Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES882-F	WT	HH	HZ	NC
chr1	924865	924865	G	T	exonic	SAMD11	.	nonsynonymous SNV	SAMD11:NM_001385640:exon1:c.G434T:p.G145V,SAMD11:NM_001385641:exon1:c.G434T:p.G145V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	.	.	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5634055	0.64915	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461736	0.79838	T	.	.	.	.	.	.	.	.	.	0.831217	0.49813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.953	0.87203	P	.	.	5.074019	0.84639	28.4	0.88105584116012625	0.17720	0.93637	0.58764	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999994	0.74766	0.11394	0.02926	0	0.166317	0.03975	0	0.183864	0.04481	0	0.166187	0.04126	0	0.810642	0.48152	3.51	3.51	0.39297	4.069000	0.57259	.	.	0.551000	0.28136	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	14.637	0.68301	940	0.13648	SAND domain|SAND domain|SAND domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	33.8	1	chr1	924865	.	G	T	33.8	.	AC=2;AF=0.1;AN=20;DP=27;ExcessHet=0;FS=0;InbreedingCoeff=0.3431;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.9;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,70	9	1	0	0
chr1	945086	945086	T	C	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon18:c.A2114G:p.E705G	.	378	1128	15	0	1	16	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0004	0.00459265	0.0023	0.0001	9.038e-05	0	0	0.0005	0.0012	0.0152	0.0019987	309	154602	rs138652036	0.0009	0.0010	0.0005	0.0012	0.0118	0.0008	0.0008	0.0112	0.0109	5.979e-05	0.0002	3.826e-05	7.56e-05	0	0.0031	0.0002	0.0011	0.0118	0.0005	0.0005	0.0003	0.0007	0.0121	0.0004	0.0004	0.0096	0.0087	2.409e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0121	0.214	0.19361	T	0.111	0.37173	T	0.0	0.02946	B	0.0	0.01387	B	0.000058	0.00387	N	48.408800	1	0.08975	N	0.77	0.19370	N	1.77	0.25841	T	-1.41	0.34795	N	0.151	0.15469	-1.0456	0.15650	T	0.045	0.19152	T	10	0.0035588741	0.00064	T	.	.	.	0.047	0.12962	.	.	0.326345978581	0.32251	0.03313889275319417	0.03261	.	.	0.348281800747	0.17669	T	0.056513	0.30308	T	-0.488325	0.00664	T	-0.6375	0.09853	T	0.0123893991982372	0.00203	T	0.255674	0.03967	T	0.08332706	0.19237	0.039669	0.04111	0.08332706	0.19237	0.039669	0.04111	-5.283	0.39774	T	.	.	0.068	0.02829	B	.	.	0.679239	0.10477	7.194	0.57409483587316601	0.05763	0.00824	0.03324	N	AEFGBHCI	0.026043	0.01887	N	-1.2354220434111	0.04496	0.2030134	-1.33529142416166	0.03982	0.1868934	0.999998522456975	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	0.685	0.685	0.17173	-1.636000	0.02119	.	.	-0.769000	0.03460	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	4.005	0.09084	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003627	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	1460.43	35	chr1	945086	.	T	C	1460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.363;DP=487;ExcessHet=0;FS=2.29;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.432;SOR=0.627	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	945520	945520	C	T	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon17:c.G2051A:p.R684K	.	411	1110	1	0	0	1	0.000450248	0.0004	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00577519495809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.07920	T	0.753	0.04754	T	0.029	0.19866	B	0.012	0.16012	B	0.000198	0.48115	N	0.177514	0.957087	0.26274	N	0.77	0.19370	N	2.06	0.20523	T	0.28	0.04233	N	0.083	0.05929	-0.9780	0.35458	T	0.024	0.10284	T	10	0.053874165	0.05648	T	0.005775	0.14982	T	0.034	0.08419	0.167	0.07186	0.357519025918	0.35359	0.0774515753278477	0.07681	.	.	0.277003854513	0.07078	T	0.01433	0.12223	T	-0.288393	0.09797	T	-0.652033	0.08813	T	0.0945254862308502	0.11743	T	0.316468	0.06291	T	0.024344916	0.01257	0.030680938	0.01555	0.024344916	0.01257	0.030680938	0.01555	-2.926	0.09406	T	.	.	0.066	0.02257	B	.	.	-0.217549	0.03003	0.454	0.91266389095463574	0.20525	0.41675	0.26710	N	AEFDGBHCI	0.067149	0.13186	N	-0.803408214239254	0.13223	0.6498914	-0.730774623738495	0.16196	0.8556208	0.999999983456006	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.07	0.647	0.16968	0.213000	0.17310	.	.	-0.193000	0.09282	0.888000	0.31154	0.000000	0.08366	0.058000	0.15825	0.0:0.2724:0.5077:0.2199	4.138	0.09647	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1599.43	34	chr1	945520	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.317;DP=460;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.114;SOR=0.873	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1164	9	0	1	0
chr1	948169	948169	T	C	exonic	NOC2L	.	nonsynonymous SNV	NOC2L:NM_015658:exon14:c.A1621G:p.I541V	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0149717844295	0.0002	0.00139776	0.0014	0	0.0009	0	0	0.0010	0	0.0035	0.0005498	85	154602	rs149625280	0.0004	0.0004	0.0003	0.0005	0.0029	0.0004	0.0004	0.0026	0.0025	0.0002	0.0004	0.0056	2.581e-05	0	0.0019	8.435e-05	0.0008	0.0029	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	9.617e-05	0	0.0003	0.0049	0	0	0	0.0001	0.0009	0.0029	0.25	0.17126	T	0.532	0.10034	T	0.22	0.30288	B	0.165	0.35019	B	0.000001	0.62929	N	0.056428	0.999891	0.50595	D	1.545	0.39105	L	0.81	0.48460	T	-0.55	0.16799	N	0.289	0.32701	-1.0071	0.27819	T	0.126	0.43091	T	10	0.011505872	0.00251	T	0.014972	0.35426	T	0.103	0.29403	.	.	0.433936292671	0.43013	0.3284553116022921	0.32758	.	.	0.423789799213	0.28358	T	0.062052	0.31814	T	-0.508102	0.00515	T	-0.505681	0.21759	T	0.31308576464653	0.25540	T	0.865113	0.56350	D	0.050782334	0.09228	0.06908342	0.14511	0.050782334	0.09227	0.06908342	0.14510	-6.103	0.47133	T	.	.	0.067	0.02428	B	.	.	1.473789	0.18978	14.03	0.93867190120136634	0.23876	0.93732	0.59033	D	AEFBI	0.208121	0.33423	N	-0.330079322880409	0.28010	1.541479	-0.300916123493313	0.28070	1.562175	0.0655655623791564	0.15365	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.2	2.88	0.32617	2.199000	0.42348	.	.	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.1054:0.0:0.8946	9.948	0.40791	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003109	0.000000	0.000000	0.002941	0.050000	0.008929	0.003268	0.000000	0.05	764.43	35	chr1	948169	.	T	C	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.592;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	9	0	1	0
chr1	970301	970301	C	T	exonic	PLEKHN1	.	stopgain	PLEKHN1:NM_001160184:exon3:c.C208T:p.R70X,PLEKHN1:NM_001367552:exon3:c.C208T:p.R70X,PLEKHN1:NM_032129:exon3:c.C208T:p.R70X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.518e-05	0	0	0	0	3.072e-05	0.0011	0	1.94e-05	3	154602	rs779046082	2.943e-05	2.941e-05	2.179e-05	3.715e-05	0.0002	2.218e-05	1.971e-05	2.455e-05	2.143e-05	0	4.474e-05	3.827e-05	2.519e-05	0	0.0002	3.328e-05	0	1.159e-05	4.604e-05	4.597e-05	1.286e-05	8.08e-05	0.0003	2.111e-05	1.528e-05	0.0001	8.293e-05	0	0	0.0003	0	0	0	0.0032	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.816714	0.06859	N	1.134170	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.081	0.05670	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290754	0.82217	D	0.276725	0.86946	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	6.448894	0.95229	34	0.99567082867152423	0.72136	0.11238	0.16501	N	AEFBI	0.095850	0.19360	N	0.105725427945561	0.46729	2.908919	-0.211371456746194	0.31126	1.758664	0.937055624386046	0.27281	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.616125	0.45549	0	.	.	5.11	3.06	0.34374	-0.057000	0.11726	.	.	0.589000	0.31548	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.2667:0.5771:0.1562:0.0	6.958	0.23764	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	585.43	33	chr1	970301	.	C	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.771;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.904;SOR=0.596	GT:AD:DP:GQ:PL	0/1:22,29:51:99:597,0,516	9	0	1	0
chr1	1020239	1020239	G	C	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon1:c.G67C:p.V23L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	14	1448	54	6	0	66	0.0222822	.	.	.	206690	not_specified|not_provided|Congenital_myasthenic_syndrome_8|AGRN-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	.	0.00878594	0.0348	0.0127	0.0641	0.0089	.	0.0123	0.0455	0.0432	0.0026067	403	154602	rs201073369	0.0071	0.0067	0.0062	0.0080	0.0319	0.0070	0.0069	0.0308	0.0303	0.0045	0.0019	0.0188	0.0010	0.0054	0.0164	0.0055	0.0088	0.0319	0.0067	0.0067	0.0066	0.0069	0.0311	0.0064	0.0062	0.0270	0.0255	0.0043	0	0.0031	0.0185	0.0048	0.0036	0.0034	0.0074	0.0086	0.0311	0.632	0.05121	T	0.192	0.28300	T	.	.	.	.	.	.	0.726910	0.09888	U	0.737577	1	0.08975	N	0.14	0.08730	N	-0.9	0.74896	T	-0.25	0.11008	N	0.053	0.02462	-0.9797	0.35071	T	0.184	0.53270	T	10	0.0018510222	0.00025	T	.	.	.	0.040	0.10527	.	.	.	.	0.18601286770968664	0.18519	0.422332236549	0.42733	0.913664937019	0.97804	D	.	.	.	-0.458053	0.01011	T	-0.40567	0.32724	T	0.00447011521354338	0.00048	T	0.49875	0.15541	T	.	.	.	.	.	.	.	.	-2.074	0.03474	T	.	.	0.079	0.07224	B	.	.	1.215538	0.16088	12.31	0.43474261126813984	0.03275	0.00656	0.02847	N	ALL	0.038155	0.05356	N	-1.10990126718945	0.06466	0.297743	-1.16109306244423	0.06570	0.316724	0.999999999973226	0.74766	0.441713	0.08003	0	0.218748	0.04544	0	0.52208	0.10781	0	0.492483	0.08430	1	.	.	2.05	1.04	0.19220	0.455000	0.21555	0.558000	0.19484	0.458000	0.21545	0.002000	0.15269	0.988000	0.31051	0.789000	0.37270	0.142:0.0:0.858:0.0	7.971	0.29289	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016317	0.009259	0.009009	0.018519	0.000000	0.000000	0.000000	0.016393	0.1	455.14	36	chr1	1020239	.	G	C	455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.602;DP=223;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.557;SOR=0.495	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,541	8	0	2	0
chr1	1041976	1041976	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon7:c.C1198T:p.R400W	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1514	7	1	0	9	0.00296345	.	.	YES	447005	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.234161199949	0.0010	0.00159744	0.0005	0.0035	0.0003	0	0	0.0002	0.0012	0.0002	0.0004075	63	154602	rs149636063	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0024	0.0022	0.0029	0.0003	0	0	0	0.0016	0.0001	0.0004	0.0002	0.0010	0.0010	0.0011	0.0009	0.0031	0.0008	0.0008	0.0026	0.0025	0.0031	0	0.0003	0	0	0	0	0.0002	0.0009	0.0002	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	0.501759	0.05096	N	1.399860	0.999998	0.08975	N	2.14	0.59869	M	-1.1	0.77336	T	-2.48	0.54059	N	0.218	0.28381	-0.6112	0.64354	T	0.503	0.81247	D	10	0.01354447	0.00287	T	0.234161	0.88398	D	0.246	0.55340	.	.	0.844727990089	0.84324	0.28116212272564134	0.28029	0.489050590399	0.47680	0.431256473064	0.29380	T	.	.	.	-0.391063	0.02648	T	-0.33819	0.40548	T	0.0244619417390315	0.01203	T	0.979335	0.92911	D	.	.	.	.	.	.	.	.	-10.943	0.79344	D	.	.	0.113	0.23744	B	.;.	.;.	2.586432	0.33543	19.37	0.99758687961689307	0.84851	0.10613	0.16070	N	AEFDBI	0.385708	0.46635	N	-0.355928116005671	0.27055	1.481372	-0.572737178095273	0.20204	1.087521	0.95909198481824	0.28404	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.89	0.228	0.14635	0.489000	0.22096	0.437000	0.18385	-0.204000	0.08590	0.027000	0.20232	0.007000	0.19602	0.001000	0.02609	0.4027:0.4127:0.0962:0.0884	4.190	0.09876	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1145.43	60	chr1	1041976	.	C	T	1145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.036;DP=626;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.452;SOR=0.737	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	9	0	1	0
chr1	1043440	1043440	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon8:c.C1586T:p.A529V	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	731516	Congenital_myasthenic_syndrome_8	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.014510625916	.	.	0.0002	0	0.0025	0	0	0	0	6.842e-05	0.0001682	26	154602	rs752221979	3.921e-05	4.446e-05	3.97e-05	3.871e-05	0.0011	3.064e-05	2.798e-05	0.0009	0.0008	0	0.0011	0	2.528e-05	0	0	3.602e-06	1.661e-05	1.165e-05	3.945e-05	3.941e-05	5.142e-05	2.691e-05	0.0003	1.716e-05	1.13e-05	0.0001	8.291e-05	0	0	0.0003	0	0.0002	0	0	0	0	0	0.303	0.14352	T	0.285	0.21678	T	.	.	.	.	.	.	0.504560	0.11911	N	0.733937	1	0.08975	N	0.29	0.10111	N	3.82	0.03728	T	-0.48	0.15379	N	0.269	0.30461	-0.9371	0.43072	T	0.006	0.01981	T	10	0.023920357	0.00641	T	0.014511	0.34674	T	0.018	0.03083	0.447	0.50629	0.33110744837	0.32714	0.4411714352499868	0.44034	0.453621968421	0.45050	0.369141459465	0.20709	T	.	.	.	-0.648964	0.00073	T	-0.735047	0.04102	T	0.0311467908591942	0.02169	T	0.788921	0.42853	T	.	.	.	.	.	.	.	.	-5.736	0.44013	T	.	.	0.090	0.12655	B	.;.	.;.	3.269019	0.44742	22.0	0.93234456577525671	0.22917	0.13493	0.17887	N	AEFBI	0.119895	0.23381	N	-0.96870823422866	0.09277	0.4384124	-1.00181021400321	0.09745	0.4866528	0.124909482756046	0.16968	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.76	0.52	0.16237	0.235000	0.17727	2.118000	0.30702	-0.197000	0.09056	0.001000	0.13787	0.971000	0.29754	0.014000	0.10232	0.2495:0.3003:0.1158:0.3344	0.594	0.00685	940	0.13648	.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1632.43	144	chr1	1043440	.	C	T	1632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.42;DP=574;ExcessHet=0;FS=1.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.22;SOR=0.625	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr1	1047342	1047342	A	G	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon20:c.A3404G:p.Q1135R	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1406	106	10	0	126	0.0428863	.	.	.	133748	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.192	.	0.0054	0.0139776	0.0143	0.0024	0.0027	0.0030	0.0046	0.0098	0.0141	0.0640	0.0127295	1968	154602	rs142416636	0.0098	0.0098	0.0081	0.0115	0.0567	0.0096	0.0096	0.0554	0.0548	0.0013	0.0030	0.0299	0.0018	0.0044	0.0307	0.0065	0.0129	0.0567	0.0077	0.0077	0.0071	0.0084	0.0574	0.0074	0.0072	0.0518	0.0497	0.0013	0	0.0042	0.0288	0.0046	0.0037	0.0238	0.0087	0.0118	0.0574	0.012	0.54683	D	0.007	0.69154	D	.	.	.	.	.	.	0.003679	0.34636	N	0.202957	0.921028	0.36678	D	2.135	0.59519	M	1.16	0.38073	T	-1.59	0.38345	N	0.519	0.54932	-1.0091	0.27198	T	0.074	0.29960	T	10	0.007086724	0.00161	T	.	.	.	0.192	0.47115	.	.	.	.	0.6762159472269722	0.67559	0.592570687533	0.54640	0.507688999176	0.39899	T	.	.	.	-0.44873	0.01149	T	-0.376367	0.36146	T	0.013385198865462	0.00242	T	0.836816	0.50885	T	.	.	.	.	.	.	.	.	-7.347	0.56529	T	.	.	0.109	0.38587	B	.;.	.;.	3.504255	0.49039	22.7	0.99389829152015619	0.62292	0.86197	0.45432	D	AEFBI	0.265116	0.38231	N	0.244303167897421	0.53358	3.504996	0.252757546594491	0.52807	3.453025	0.919847161373162	0.26614	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	2.004000	0.40474	6.613000	0.56094	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	1.0:0.0:0.0:0.0	13.671	0.61899	940	0.13648	.;SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.005051	0.024523	0.038012	0.000000	0.051724	0.018293	0.041667	0.05	771.43	38	chr1	1047342	.	A	G	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.338;DP=382;ExcessHet=0;FS=8.049;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-1.404;SOR=1.076	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	9	0	1	0
chr1	1048170	1048170	G	A	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon23:c.G3910A:p.A1304T	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	626538	not_provided|Inborn_genetic_diseases|Congenital_myasthenic_syndrome_8	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.115961597703	7.9e-05	.	7.977e-05	0	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs375590400	6.729e-05	7.046e-05	6.399e-05	7.063e-05	0.0002	5.63e-05	5.232e-05	0.0001	9.013e-05	3.054e-05	0	0	0	0	0.0002	6.724e-05	8.426e-05	0.0002	5.915e-05	5.911e-05	8.995e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	5.844e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.651	0.04832	T	0.177	0.29740	T	.	.	.	.	.	.	0.009589	0.30291	N	0.263339	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-0.74	0.20791	N	0.094	0.07398	-1.0098	0.26981	T	0.168	0.50762	T	10	0.06380245	0.08366	T	0.115962	0.79531	D	0.067	0.19503	.	.	0.62380043238	0.62074	0.2750270993301686	0.27415	0.197183558091	0.22091	0.434752881527	0.29859	T	.	.	.	-0.372466	0.03471	T	-0.517752	0.20522	T	0.0112580247223377	0.00166	T	0.542746	0.18485	T	.	.	.	.	.	.	.	.	-4.676	0.33112	T	.	.	0.067	0.04436	B	.;.	.;.	0.864170	0.12365	8.905	0.51909772674365928	0.04649	0.07437	0.13455	N	AEFBI	0.034561	0.04303	N	-1.13487888642228	0.06032	0.276638	-1.08957773557398	0.07904	0.3864023	0.32800561236804	0.19455	0.706298	0.61202	0	0.724815	0.89359	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.93	2.89	0.32713	0.356000	0.19918	0.425000	0.18262	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.232:0.5235:0.2445:0.0	8.824	0.34200	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002575	0.005495	0.001374	0.000000	0.000000	0.000000	0.003165	0.007634	0.05	1325.43	81	chr1	1048170	.	G	A	1325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=465;ExcessHet=0;FS=4.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=-1.982;SOR=0.581	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	1203820	1203820	G	A	exonic	TNFRSF18	.	nonsynonymous SNV	TNFRSF18:NM_148901:exon4:c.C539T:p.P180L	.	422	1092	8	0	0	8	0.00364964	.	.	.	2367828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.0023979843075	7.9e-05	0.000199681	2.506e-05	0	0	0.0003	0	0	0	0	2.59e-05	4	154602	rs371611084	4.337e-05	4.925e-05	4.725e-05	3.943e-05	0.0005	3.452e-05	3.134e-05	0.0001	7.804e-05	0.0002	0.0001	0	0.0002	0	0.0005	2.359e-05	0.0002	1.201e-05	7.223e-05	7.218e-05	7.709e-05	6.714e-05	0.0002	3.968e-05	3.125e-05	4.728e-05	3.046e-05	0.0001	0	0.0001	0	0	0	0	4.411e-05	0	0.0002	0.0	0.91255	D	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.320867	0.04073	N	1.475580	1	0.08975	N	.	.	.	1.53	0.30401	T	-0.01	0.07155	N	0.106	0.09066	-1.0463	0.15447	T	0.049	0.21065	T	9	0.026540726	0.00818	T	0.002398	0.04701	T	0.034	0.08419	.	.	0.0551355673512	0.04727	0.08285049561815323	0.08220	0.022438488712	0.02255	0.43814855814	0.30324	T	.	.	.	-0.545642	0.00310	T	-0.742119	0.03802	T	0.0171319049974503	0.00458	T	0.332967	0.07033	T	.	.	.	.	.	.	.	.	-3.886	0.22092	T	.	.	0.153	0.33800	B	.	.	-0.054923	0.03919	0.866	0.54226538946007341	0.05095	0.02596	0.07160	N	AEFDBCIJ	0.046348	0.07686	N	-1.38415848357361	0.02786	0.1235214	-1.56103110538332	0.01901	0.08669975	0.994376927028903	0.33608	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	1.37	-2.74	0.05582	-0.743000	0.04950	-0.517000	0.08711	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1603:0.2531:0.2078:0.3787	0.627	0.00736	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	615.43	34	chr1	1203820	.	G	A	615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.981;DP=387;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=0;SOR=0.532	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1018	9	0	1	0
chr1	1214100	1214100	G	A	exonic	TNFRSF4	.	nonsynonymous SNV	TNFRSF4:NM_003327:exon1:c.C28T:p.R10C	.	377	1075	66	4	0	74	0.0332734	.	.	.	447262	Combined_immunodeficiency_due_to_OX40_deficiency|TNFRSF4-related_disorder|not_provided	MONDO:MONDO:0014268,MedGen:C3810053,OMIM:615593,Orphanet:431149|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0053	0.00519169	0.0151	0.0038	0.0060	0	0.0120	0.0141	0.0087	0.0318	0.0070504	1090	154602	rs35304565	0.0080	0.0080	0.0075	0.0085	0.0244	0.0079	0.0078	0.0235	0.0231	0.0015	0.0033	0.0093	5.145e-05	0.0058	0.0213	0.0074	0.0088	0.0244	0.0053	0.0053	0.0053	0.0052	0.0193	0.0050	0.0048	0.0161	0.0149	0.0018	0.0011	0.0056	0.0078	0	0.0040	0.0034	0.0068	0.0080	0.0193	0.007	0.59928	D	0.011	0.64786	D	0.981	0.59675	D	0.265	0.39681	B	0.001714	0.00817	N	4.085850	1	0.08975	N	0.895	0.22405	L	-0.02	0.62918	T	-2.58	0.55662	D	0.164	0.17278	-0.9026	0.47717	T	0.129	0.43848	T	10	0.0057964325	0.00129	T	.	.	.	0.118	0.32913	.	.	0.623996689363	0.62094	0.8368611785807644	0.83646	0.200386560108	0.22444	0.452319145203	0.32260	T	0.385507	0.74689	T	-0.476144	0.00779	T	-0.4378	0.29056	T	0.016484515701066	0.00413	T	0.526647	0.17353	T	0.17434712	0.38234	0.07939246	0.17868	0.1872518	0.40170	0.064411104	0.12905	-4.77	0.34240	T	.	.	0.341	0.56005	A	.	.	2.123526	0.27030	17.32	0.98421705000658088	0.41288	0.04202	0.09711	N	AEFDBCI	0.094465	0.19100	N	-0.538297404145678	0.20852	1.10236	-0.713258259078068	0.16631	0.8807004	0.999652904049022	0.41424	0.495158	0.18159	0	0.616935	0.53198	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.14	2.21	0.27042	-0.340000	0.07868	-5.498000	0.01697	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1456:0.0:0.8544:0.0	6.235	0.19967	789	0.46346	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016871	0.010638	0.015068	0.026316	0.000000	0.034483	0.018868	0.019084	0.05	879.43	33	chr1	1214100	.	G	A	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.161;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=0.892;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1034	9	0	1	0
chr1	1309739	1309739	T	C	exonic	PUSL1	.	nonsynonymous SNV	PUSL1:NM_001346116:exon5:c.T532C:p.F178L,PUSL1:NM_153339:exon5:c.T532C:p.F178L	.	373	1148	1	0	0	1	0.00043535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.66468983702	.	.	3.422e-05	0	0	0	0	6.385e-05	0	0	1.29e-05	2	154602	rs750390825	3.458e-06	4.788e-06	0	6.964e-06	0.0005	1.01e-06	7.4e-07	0.0001	7.578e-05	0	0	0	0	0	0.0005	9.051e-07	1.676e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.988	0.77976	D	0.075696	0.21208	N	0.420104	0.990362	0.41143	D	.	.	.	-0.82	0.74053	T	-5.63	0.86836	D	0.884	0.88246	0.080	0.83801	D	0.572	0.84545	D	10	0.95902574	0.95291	D	0.66469	0.97190	D	0.658	0.87184	0.903	0.97901	0.727117891939	0.72469	0.7894061111939974	0.78892	0.471672694869	0.46430	0.867233157158	0.92170	D	0.291057	0.68436	T	0.266532	0.80128	D	0.145079	0.79872	D	0.955130994319916	0.64433	D	0.865113	0.79675	D	0.7392092	0.80247	0.7712552	0.86496	0.7392092	0.80248	0.7712552	0.86497	-12.008	0.84891	D	.	.	0.990	0.93727	P	.;.	.;.	4.198634	0.63341	24.6	0.99714323529282389	0.81563	0.77139	0.37895	D	AEFDGBHCI	0.187775	0.31507	N	0.323207865231313	0.57340	3.901123	0.166115478215636	0.48002	3.022179	0.999999999129657	0.74766	0.72623	0.87236	0	0.748881	0.99253	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	4.61	3.48	0.38946	-0.064000	0.11593	5.975000	0.52067	0.663000	0.56723	0.010000	0.18352	1.000000	0.68203	0.878000	0.41950	0.0:0.1068:0.0:0.8932	6.713	0.22478	779	0.47767	Pseudouridine synthase I, TruA, alpha/beta domain;Pseudouridine synthase I, TruA, alpha/beta domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2142.43	41	chr1	1309739	.	T	C	2142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.815;DP=493;ExcessHet=0;FS=4.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.177;SOR=0.529	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1343	9	0	1	0
chr1	1490591	1490591	G	A	exonic	ATAD3B	.	nonsynonymous SNV	ATAD3B:NM_001317238:exon13:c.G1396A:p.G466R,ATAD3B:NM_031921:exon15:c.G1534A:p.G512R	.	432	1062	27	1	0	29	0.0134696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.367517647289	7.7e-05	0.00119808	0.0009	0.0001	0.0001	0	0	0.0004	0	0.0048	0.0006986	108	154602	rs371797847	0.0005	0.0005	0.0003	0.0007	0.0055	0.0005	0.0005	0.0044	0.0042	0.0001	0.0003	0.0022	2.525e-05	0	0.0055	0.0002	0.0007	0.0047	0.0003	0.0003	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	2.407e-05	0	0.0001	0.0026	0	0	0	0.0002	0	0.0054	0.091	0.31834	T	0.319	0.19188	T	0.934	0.52202	P	0.288	0.40614	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.955	0.52871	M	-3.53	0.94764	D	-3.79	0.71639	D	0.646	0.65758	0.554	0.91288	D	0.816	0.93812	D	10	0.021294236	0.00506	T	0.367518	0.92665	D	0.640	0.86283	0.563	0.68364	0.82766997058	0.82603	0.23252161715020395	0.23167	0.0374059703501	0.03967	0.640593290329	0.58649	T	0.082176	0.36767	T	-0.0566224	0.43434	T	0.146293	0.79950	D	0.12736808118792	0.15137	T	0.971703	0.89738	D	0.28298393	0.51333	0.20234084	0.44257	0.28298393	0.51333	0.20234084	0.44256	-8.713	0.65830	D	.	.	.	.	.	.	.	3.127787	0.42255	21.5	0.95906600698738009	0.28147	0.91036	0.52735	D	AEFBI	0.634985	0.61466	D	-0.055284376640717	0.39365	2.320346	-0.234434062783645	0.30312	1.705563	0.0366613238026208	0.14255	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	2.55	1.6	0.22686	5.053000	0.64089	7.013000	0.57238	0.241000	0.18245	1.000000	0.71638	1.000000	0.68203	0.012000	0.09680	0.1249:0.0:0.8751:0.0	8.489	0.32251	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004541	0.005051	0.004076	0.002924	0.000000	0.008621	0.009259	0.003788	0.1	3736.14	39	chr1	1490591	.	G	A	3736.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.96;DP=619;ExcessHet=0.2348;FS=1.299;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.3;MQRankSum=-0.479;QD=11.25;ReadPosRankSum=-0.077;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	8	0	2	0
chr1	1520306	1520306	G	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon6:c.G680C:p.R227T,ATAD3A:NM_001170536:exon6:c.G443C:p.R148T,ATAD3A:NM_018188:exon6:c.G824C:p.R275T	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	0.9967	0.786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	7.7e-05	.	8.363e-06	0	0	0	0	1.53e-05	0	0	6.5e-06	1	154602	rs375166649	1.096e-05	1.163e-05	1.09e-05	1.102e-05	1.441e-05	6.49e-06	5.25e-06	8.53e-06	6.9e-06	0	0	0	0	0	0	1.441e-05	0	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.1	0.30515	T	0.193	0.29346	T	0.015	0.17086	B	0.026	0.20792	B	0.000066	0.52346	N	0.164006	0.907432	0.38583	D	1.15	0.29295	L	2.32	0.94210	T	-2.71	0.58896	D	0.606	0.62781	-0.2505	0.76346	T	0.555	0.83752	D	10	0.6026807	0.67001	D	0.421246	0.93797	D	0.121	0.33580	.	.	0.877543109047	0.87634	0.6672544190079055	0.66663	0.517683661184	0.49627	0.453463196754	0.32417	T	0.085777	0.37578	T	0.0856056	0.62691	D	-0.0993239	0.63450	T	0.156610424939905	0.17618	T	0.920008	0.73035	D	0.10247292	0.24214	0.08022285	0.18127	0.10247292	0.24214	0.08022285	0.18127	-11.262	0.85455	D	.	.	0.191	0.43815	B	.;.;.	.;.;.	5.311232	0.89155	29.9	0.78694753780212623	0.12412	0.96345	0.68685	D	AEFDGBI	0.700362	0.65740	D	-0.551588068322093	0.20435	1.077163	-0.446203115186155	0.23656	1.29124	0.269415834149771	0.18876	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.28	1.87	0.24559	3.336000	0.51830	4.813000	0.45056	-0.278000	0.06506	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.2981:0.2966:0.4053:0.0	2.456	0.04253	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2443.43	39	chr1	1520306	.	G	C	2443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.357;DP=564;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.47;MQRankSum=0.842;QD=12.73;ReadPosRankSum=-1.069;SOR=0.662	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1291	9	0	1	0
chr1	1520597	1520597	T	C	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon7:c.T730C:p.W244R,ATAD3A:NM_001170536:exon7:c.T493C:p.W165R,ATAD3A:NM_018188:exon7:c.T874C:p.W292R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	415	1085	22	0	0	22	0.0100365	.	.	.	2839839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.332367645262	.	.	0.0002	9.625e-05	8.643e-05	0	0	0.0001	0	0.0005	1.94e-05	3	154602	rs2767468	0.0004	0.0006	0.0004	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	0.0002	0.0002	0	0.0002	0	0.0035	0.0004	0.0004	0.0005	0.0002	0.0009	0.0001	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	0.0003	0	0.0002	0	0.0002	0	0.0034	0.0001	0	0.0017	0.839	0.02825	T	0.841	0.04965	T	0.001	0.07471	B	0.008	0.13708	B	0.000002	0.62929	N	0.063421	0.999913	0.53665	D	0.995	0.25082	L	-3.0	0.93352	D	-6.95	0.94352	D	0.479	0.51494	-0.3070	0.74790	T	0.620	0.86618	D	10	0.19466835	0.35287	T	0.332368	0.91787	D	0.336	0.65816	0.583	0.70990	0.784197563543	0.78219	0.8997627746519212	0.89948	0.593987100731	0.54729	0.550479531288	0.45925	T	0.122339	0.44593	T	0.0944643	0.63688	D	-0.102085	0.63236	T	0.0701929091246324	0.08678	T	0.535446	0.17943	T	0.3268352	0.55211	0.39737242	0.64354	0.415586	0.61797	0.40001217	0.64549	-4.84	0.48149	T	0.20377204074795494	0.27139	0.351	0.61755	A	.;.;.	.;.;.	2.661937	0.34679	19.69	0.20906440186603245	0.00773	0.88584	0.48580	D	AEFGBI	0.341212	0.43777	N	-0.949316226723773	0.09707	0.4606452	-0.820431655846448	0.14000	0.7293059	0.128589634574862	0.17043	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	3.28	0.36691	3.387000	0.52240	4.879000	0.45646	-0.872000	0.02536	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0804:0.0:0.9196	11.643	0.50502	846	0.36215	.;ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002160	0.000000	0.004087	0.004167	0.111111	0.008621	0.003165	0.000000	0.1	337.14	39	chr1	1520597	.	T	C	337.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.154;DP=846;ExcessHet=0.2348;FS=10.909;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.01;MQRankSum=-13.62;QD=0.64;ReadPosRankSum=-0.853;SOR=1.757	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1291	8	0	2	0
chr1	1534043	1534043	G	A	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon16:c.G1732A:p.G578R,ATAD3A:NM_001170536:exon16:c.G1495A:p.G499R,ATAD3A:NM_018188:exon16:c.G1876A:p.G626R	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	401	1106	14	1	0	16	0.00718133	.	.	.	731742	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.254	0.00895745932285	7.7e-05	0.000998403	0.0005	9.781e-05	8.675e-05	0	0	0.0003	0	0.0029	0.0004851	75	154602	rs200240134	0.0004	0.0004	0.0003	0.0005	0.0033	0.0003	0.0003	0.0029	0.0028	0.0001	0.0002	0.0021	0	0	0.0033	0.0001	0.0004	0.0032	0.0003	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0.0023	0	0	0	0.0001	0	0.0039	0.092	0.39575	T	0.016	0.62352	D	0.002	0.09854	B	0.003	0.08700	B	0.526643	0.05233	N	1.339610	1	0.08975	N	1.645	0.42016	L	-3.13	0.94260	D	-0.44	0.14588	N	0.19	0.22486	-0.9950	0.31299	T	0.082	0.32266	T	10	0.006322235	0.00143	T	0.008957	0.23607	T	0.254	0.56428	0.205	0.12076	0.858030211332	0.85666	0.3426565669532685	0.34178	0.557617868616	0.52378	0.240795224905	0.02862	T	0.003222	0.02626	T	-0.293966	0.09242	T	-0.19746	0.54888	T	0.00579250374565147	0.00063	T	0.606739	0.22845	T	0.05790206	0.11583	0.056852117	0.10233	0.057708804	0.11517	0.060134023	0.11402	-3.49	0.18700	T	.	.	0.085	0.14015	B	.;.;.	.;.;.	-0.375990	0.02304	0.243	0.83937976348057852	0.15004	0.03254	0.08282	N	AEFDBHI	0.132227	0.25145	N	-1.01619637540621	0.08267	0.3870375	-1.21685798152388	0.05638	0.2692183	0.0222111921143013	0.13413	0.67177	0.52595	0	0.643519	0.57511	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	3.65	-2.53	0.05959	-0.499000	0.06494	-0.793000	0.07406	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3537:0.1513:0.4951:0.0	4.668	0.12058	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005040	0.005051	0.004087	0.002924	0.000000	0.008621	0.009146	0.007576	0.05	1040.43	37	chr1	1534043	.	G	A	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.65;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.526;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,936	9	0	1	0
chr1	1626987	1626987	C	T	exonic	MIB2	.	nonsynonymous SNV	MIB2:NM_001170688:exon9:c.C1378T:p.R460W,MIB2:NM_001170689:exon9:c.C1033T:p.R345W,MIB2:NM_001170686:exon10:c.C1390T:p.R464W,MIB2:NM_001170687:exon10:c.C1360T:p.R454W,MIB2:NM_080875:exon10:c.C1402T:p.R468W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.095674869831	.	0.000199681	0.0001	0.0003	0.0001	0.0003	0.0003	3.684e-05	0	0.0001	7.12e-05	11	154602	rs542956464	2.742e-05	2.805e-05	1.773e-05	3.72e-05	0.0002	2.066e-05	1.819e-05	8.906e-05	7.069e-05	8.965e-05	2.245e-05	0	0.0001	1.928e-05	0.0002	1.17e-05	4.977e-05	0.0002	5.909e-05	5.905e-05	3.854e-05	8.056e-05	0.0006	3.075e-05	2.208e-05	0.0002	8.384e-05	9.622e-05	0	6.534e-05	0	0.0006	0	0	1.47e-05	0	0	0.016	0.78490	D	0.011	0.64786	D	0.998	0.73220	D	0.849	0.60615	P	0.017821	0.27632	N	0.352028	0.857481	0.29443	N	.	.	.	1.25	0.66652	T	-4.12	0.76414	D	0.28	0.34444	-0.5589	0.66446	T	0.240	0.60845	T	10	0.12728488	0.24204	T	0.095675	0.76471	D	0.167	0.42761	.	.	0.710848232195	0.70832	0.5758991941548679	0.57518	0.0895406292479	0.10117	0.656515002251	0.60912	T	.	.	.	-0.245333	0.14675	T	-0.289857	0.45787	T	0.272659331560135	0.23861	T	0.957038	0.86259	D	.	.	.	.	.	.	.	.	-10.775	0.80764	D	.	.	0.146	0.38941	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.621020	0.34058	19.52	0.99630737450825935	0.76020	0.78438	0.38698	D	AEFDBI	0.812622	0.73530	D	-0.302169337363344	0.29067	1.608593	-0.350016306211927	0.26508	1.464658	0.984877804448227	0.30789	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.59	-2.43	0.06145	0.022000	0.13402	0.217000	0.16029	-0.165000	0.11486	0.270000	0.25046	0.656000	0.25990	0.853000	0.40368	0.8529:0.1471:0.0:0.0	16.175	0.81659	809	0.43032	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2107.43	164	chr1	1626987	.	C	T	2107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.2;DP=509;ExcessHet=0;FS=0.576;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.763;SOR=0.61	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1123	9	0	1	0
chr1	1641723	1641723	-	TCC	exonic	CDK11B	.	nonframeshift insertion	CDK11B:NM_033487:exon7:c.179_180insGGA:p.E67_T68insE,CDK11B:NM_033490:exon8:c.296_297insGGA:p.E106_T107insE,CDK11B:NM_001291345:exon9:c.917_918insGGA:p.E313_T314insE,CDK11B:NM_001787:exon9:c.986_987insGGA:p.E336_T337insE,CDK11B:NM_033486:exon9:c.947_948insGGA:p.E323_T324insE,CDK11B:NM_033489:exon10:c.845_846insGGA:p.E289_T290insE	.	13	209	3	1	0	5	0.0118203	.	.	.	3547713	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203457539	0.0005	0.0006	0.0004	0.0007	0.0034	0.0005	0.0005	0.0031	0.0029	6.534e-05	0.0005	0.0002	3.253e-05	0	0.0025	0.0003	0.0005	0.0034	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0002	0.0011	0.0008	0.0002	0	0.0002	0	0.0003	0	0.0046	0.0004	0.0016	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1371.08	34	chr1	1641723	.	T	TTCC	1371.08	.	AC=2;AF=0.1;AN=20;DP=292;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=39.11;QD=33.92;SOR=1.839	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,412	9	1	0	0
chr1	1704971	1704971	G	A	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon13:c.C1400T:p.P467L,CDK11A:NM_001313982:exon13:c.C1388T:p.P463L,CDK11A:NM_024011:exon13:c.C1391T:p.P464L,CDK11A:NM_033529:exon13:c.C1361T:p.P454L	.	.	.	.	.	.	.	.	.	.	.	3943629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.394	0.104087805468	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs748804386	8.949e-06	8.906e-06	1.233e-05	5.535e-06	0.0002	4.99e-06	3.85e-06	4.57e-06	3.33e-06	3.061e-05	0	0	0	0	0.0002	9.038e-06	1.672e-05	0	0	6.603e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.625	0.41611	L	0.14	0.60854	T	-9.34	0.98340	D	0.532	0.69562	-0.2883	0.75312	T	0.345	0.71004	T	10	0.7163617	0.73372	D	0.104088	0.77848	D	0.394	0.70924	0.711	0.84691	0.645752913984	0.64282	0.6136493866532732	0.61296	0.197134084636	0.22086	.	.	.	0.099572	0.40451	T	0.0207392	0.54481	T	-0.1925	0.55355	T	0.993521630764008	0.84356	D	0.950305	0.80969	D	0.84894747	0.87258	0.6644851	0.80330	0.84894747	0.87259	0.6644851	0.80331	-11.763	0.83677	D	.	.	0.966	0.92429	P	.;.;.;.;.;.	.;.;.;.;.;.	4.535087	0.71228	25.6	0.97754582248721977	0.35763	0.91533	0.53729	D	AEFDBI	0.581976	0.58178	D	0.313999116574109	0.56866	3.852168	0.118253709067676	0.45481	2.810633	0.991783790221115	0.32608	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.6	2.6	0.30173	4.273000	0.58711	2.459000	0.32846	0.299000	0.18918	1.000000	0.71638	0.990000	0.31317	0.714000	0.34579	0.0:0.0:1.0:0.0	12.598	0.55835	658	0.62094	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2348.43	41	chr1	1704971	.	G	A	2348.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.86;DP=559;ExcessHet=0;FS=1.778;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.61;MQRankSum=-0.348;QD=11.98;ReadPosRankSum=0.026;SOR=0.866	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr1	1709100	1709100	A	G	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon8:c.T791C:p.L264P,CDK11A:NM_001313982:exon8:c.T779C:p.L260P,CDK11A:NM_024011:exon8:c.T782C:p.L261P,CDK11A:NM_033529:exon8:c.T752C:p.L251P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.199407292294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.01e-06	7.046e-06	1.712e-05	0	1.357e-05	1.87e-06	1.26e-06	4.17e-06	2.14e-06	0	0	0	0	0	0	1.357e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.91255	T	0.294	0.21678	T	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.072930	1	0.81001	D	2.545	0.74286	M	2.26	0.17596	T	-0.42	0.21215	N	0.507	0.53884	-1.1051	0.03527	T	0.084	0.32729	T	10	0.34290853	0.51313	T	0.199407	0.86650	D	0.132	0.35948	0.279	0.23323	0.571897645862	0.56856	0.30191750913494686	0.30104	0.9835676918	0.73823	.	.	.	0.032343	0.22444	T	-0.042551	0.45569	T	-0.298898	0.44842	T	0.82007884979248	0.47778	D	0.963304	0.86380	D	0.45264474	0.64209	0.41551083	0.65663	0.45264474	0.64209	0.41551083	0.65663	-10.564	0.83797	D	.	.	0.741	0.80506	P	.;.;.;.;.;.	.;.;.;.;.;.	4.877118	0.79954	27.2	0.9987481108916807	0.95160	0.94766	0.62256	D	AEFI	0.880815	0.80772	D	0.446523681886591	0.64006	4.645757	0.367939193223892	0.59596	4.138753	0.00241343829013502	0.09408	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.24	1.99	0.25423	7.876000	0.85623	8.454000	0.77227	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.8107:0.1893:0.0:0.0	8.793	0.34019	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	132.97	3	chr1	1709100	.	A	G	132.97	.	AC=4;AF=0.2;AN=20;DP=39;ExcessHet=0;FS=0;InbreedingCoeff=0.6636;MLEAC=3;MLEAF=0.15;MQ=27;QD=26.59;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0	8	2	0	0
chr1	1754106	1754106	C	A	exonic	NADK	.	nonsynonymous SNV	NADK:NM_001198995:exon8:c.G950T:p.C317F,NADK:NM_001198993:exon10:c.G1046T:p.C349F,NADK:NM_001353641:exon10:c.G1046T:p.C349F,NADK:NM_001353642:exon10:c.G785T:p.C262F,NADK:NM_023018:exon10:c.G1046T:p.C349F,NADK:NM_001198994:exon12:c.G1481T:p.C494F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0780226378601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.415	0.69758	M	0.72	0.50976	T	-10.69	0.99152	D	0.962	0.97207	-0.2714	0.75774	T	0.352	0.71596	T	10	0.9798485	0.97927	D	0.078023	0.72907	D	0.527	0.80007	0.931	0.98930	0.812215987614	0.81045	0.9889936934996834	0.98893	.	.	0.844260454178	0.88743	D	0.34387	0.71246	T	0.302751	0.83187	D	0.197105	0.82969	D	0.999837875366211	0.99255	D	0.983302	0.94339	D	0.98426604	0.99418	0.96414506	0.99188	0.98426604	0.99418	0.96414506	0.99189	-14.895	0.95614	D	.	.	0.997	0.97486	P	.;.;.;.	.;.;.;.	5.614436	0.92556	32	0.9936929915298286	0.61368	0.96565	0.69776	D	AEFDBCI	0.953574	0.96998	D	0.777612275596486	0.84687	8.358016	0.697039396935529	0.82152	7.697246	0.999999384663264	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.27	4.36	0.51643	7.343000	0.78559	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9201:0.0:0.0799	12.933	0.57695	687	0.59234	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1015.43	33	chr1	1754106	.	C	A	1015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.116;DP=386;ExcessHet=0;FS=1.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.058;SOR=0.443	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	9	0	1	0
chr1	1927674	1927674	G	T	exonic	CFAP74	.	nonsynonymous SNV	CFAP74:NM_001304360:exon28:c.C3460A:p.R1154S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.06325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.25253	-0.9844	0.33975	T	0.030	0.12717	T	6	0.118411034	0.22387	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	0.4116505375261653	0.41081	.	.	.	.	.	0.024591	0.18549	T	-0.263382	0.12507	T	-0.616107	0.11494	T	0.134595324773955	0.15800	T	0.430757	0.11694	T	0.178949	0.38941	0.18456918	0.41516	0.178949	0.38941	0.18456918	0.41516	-3.111	0.11423	T	.	.	0.263	0.49797	B	.	.	1.019911	0.13993	10.56	0.93916116639993408	0.23955	0.10237	0.15799	N	AEFDBI	0.113037	0.22320	N	-0.658788167222091	0.17204	0.8833234	-0.817041757523724	0.14083	0.7340056	0.0259848536202018	0.13683	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.72	1.75	0.23707	2.387000	0.44043	1.316000	0.25570	0.509000	0.23192	0.097000	0.22731	0.780000	0.26771	0.005000	0.06747	0.0:0.0:0.7196:0.2804	6.714	0.22482	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2287.43	33	chr1	1927674	.	G	T	2287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.49;DP=553;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-1.153;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	9	0	1	0
chr1	2198795	2198795	C	T	exonic	FAAP20	.	nonsynonymous SNV	FAAP20:NM_001282670:exon4:c.G194A:p.R65H	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00519169	0.0077	0.0018	0.0106	0	0.0417	0.0090	0.0154	0.0075	0.0023997	371	154602	rs142593122	0.0110	0.0086	0.0110	0.0109	0.0120	0.0108	0.0107	0.0118	0.0117	0.0019	0.0052	0.0089	0.0004	0.0033	0.0067	0.0120	0.0109	0.0072	0.0073	0.0073	0.0075	0.0070	0.0110	0.0069	0.0068	0.0104	0.0101	0.0022	0.0154	0.0081	0.0086	0	0.0029	0.0102	0.0110	0.0095	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1755.14	42	chr1	2198795	.	C	T	1755.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.593;DP=431;ExcessHet=0.2348;FS=2.311;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.182;SOR=0.488	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1054	8	0	2	0
chr1	2406784	2406784	C	G	exonic	PEX10	.	nonsynonymous SNV	PEX10:NM_001374425:exon4:c.G769C:p.G257R,PEX10:NM_001374426:exon4:c.G337C:p.G113R,PEX10:NM_001374427:exon4:c.G280C:p.G94R,PEX10:NM_002617:exon4:c.G712C:p.G238R,PEX10:NM_153818:exon4:c.G772C:p.G258R	Peroxisome biogenesis disorder 6A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 6B, Autosomal recessive	0	1495	26	1	0	28	0.00927767	.	.	YES	194546	PEX10-related_disorder|Peroxisome_biogenesis_disorder_6A_(Zellweger)|not_provided|Zellweger_spectrum_disorders|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder,_complementation_group_7	.|MONDO:MONDO:0013936,MedGen:C3553947,OMIM:614870,Orphanet:912|MedGen:C3661900|MONDO:MONDO:0019609,MedGen:C0043459,Orphanet:912|MONDO:MONDO:0013937,MedGen:C3553948,OMIM:614871,Orphanet:44|MedGen:C1864399	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.343	0.178476205058	0.0010	0.00179712	0.0015	0.0003	0.0018	0	0	0.0021	0.0046	0.0004	0.0011513	178	154602	rs61736380	0.0011	0.0011	0.0011	0.0012	0.0080	0.0011	0.0011	0.0061	0.0055	0.0002	0.0014	0.0021	2.525e-05	0.0003	0.0080	0.0012	0.0015	0.0005	0.0014	0.0014	0.0012	0.0016	0.0021	0.0012	0.0012	0.0018	0.0017	0.0002	0.0219	0.0009	0.0020	0	0.0006	0.0068	0.0021	0.0033	0.0008	0.191	0.21066	T	0.106	0.39492	T	0.823	0.50672	P	0.498	0.50679	P	0.001488	0.38855	N	0.327536	0.947171	0.26608	N	2.2	0.62015	M	-1.48	0.81150	T	-1.21	0.30762	N	0.31	0.37405	-0.4718	0.69662	T	0.422	0.76657	T	10	0.010670394	0.00236	T	0.178476	0.85359	D	0.343	0.66488	.	.	0.841721472804	0.84021	0.5729844307713985	0.57226	0.219882442572	0.24531	0.394138902426	0.24251	T	0.146469	0.48408	T	-0.357986	0.04245	T	-0.29099	0.45671	T	0.0376728540169256	0.03274	T	0.927507	0.73308	D	0.057615306	0.11489	0.07020275	0.14886	0.057615306	0.11488	0.07020275	0.14886	-6.902	0.54027	T	0.21305723523911807	0.28600	0.257	0.49216	B	.;.;.	.;.;.	1.683752	0.21456	15.21	0.98928848122039481	0.48713	0.80498	0.40120	D	AEFDBHCI	0.295790	0.40582	N	-0.0912055269759382	0.37778	2.203	-0.16806200514842	0.32720	1.864289	0.99997250291566	0.50053	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.02	-0.228	0.12452	0.469000	0.21779	-4.311000	0.02224	0.599000	0.40250	0.999000	0.42656	0.000000	0.08366	0.183000	0.21389	0.0:0.4115:0.0:0.5885	8.870	0.34465	917	0.20147	Pex, N-terminal;Pex, N-terminal;Pex, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004053	0.000000	0.005450	0.005882	0.000000	0.008772	0.009259	0.000000	0.1	2726.14	127	chr1	2406784	.	C	G	2726.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.132;DP=526;ExcessHet=0.2348;FS=0.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.369;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	8	0	2	0
chr1	2529567	2529567	C	A	exonic	HES5	.	nonsynonymous SNV	HES5:NM_001010926:exon3:c.G403T:p.A135S	.	418	1103	1	0	0	1	0.000453104	.	.	.	4146746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.284326144608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1014849600	2.155e-05	1.847e-05	1.951e-05	2.382e-05	0.0013	1.385e-05	1.175e-05	0.0003	0.0002	0	0	0	0	0	0.0013	2.011e-05	2.849e-05	0	6.157e-05	5.965e-05	6.655e-05	5.631e-05	0.0002	3.191e-05	2.393e-05	3.967e-05	2.644e-05	4.943e-05	0	0	0	0	0	0	9.114e-05	0	0.0002	0.868	0.02619	T	0.656	0.06598	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.00162	U	432.368000	1	0.08975	N	0.695	0.17993	N	-0.05	0.63403	T	0.22	0.04694	N	0.105	0.08925	-1.0189	0.24074	T	0.110	0.39675	T	10	0.056061864	0.06225	T	0.284326	0.90342	D	0.131	0.35738	0.221	0.14371	0.268702046668	0.26493	0.3327336828183182	0.33186	0.235431891898	0.26076	0.807949662209	0.83177	D	0.200771	0.55845	T	-0.228854	0.16802	T	-0.56651	0.15770	T	0.0498446794567959	0.05473	T	.	.	.	0.04771352	0.08201	0.062002245	0.12062	0.04771352	0.08201	0.062002245	0.12062	-4.646	0.32744	T	.	.	0.083	0.09094	B	.	.	0.584368	0.09528	6.305	0.75373474267354923	0.11050	0.14501	0.18436	N	AEFDBCIJ	0.067533	0.13280	N	-1.12965875330809	0.06121	0.2809305	-1.11892959997172	0.07338	0.3565776	0.999999995910835	0.74766	0.59774	0.34471	0	0.491552	0.07993	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.35	-0.0887	0.13007	0.195000	0.16960	-0.118000	0.11753	-0.451000	0.05143	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.158:0.5049:0.1381:0.199	2.288	0.03879	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	199.43	13	chr1	2529567	.	C	A	199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.365;DP=209;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.562;SOR=0.693	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,412	9	0	1	0
chr1	2606283	2606283	T	A	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon8:c.A715T:p.N239Y	.	415	1102	4	1	0	6	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	.	0.00199681	0.0021	0	8.67e-05	0	0	0	0.0067	0.0152	0.0017529	271	154602	rs533316401	0.0010	0.0010	0.0006	0.0015	0.0162	0.0010	0.0010	0.0155	0.0152	2.987e-05	4.472e-05	0	2.519e-05	0	0.0007	4.137e-05	0.0010	0.0162	0.0005	0.0006	0.0003	0.0008	0.0162	0.0004	0.0004	0.0133	0.0122	2.406e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0162	0.02	0.49613	D	0.052	0.47581	T	0.949	0.53761	P	0.516	0.48072	P	0.000045	0.53742	D	0.160044	0.999804	0.81001	D	2.175	0.60977	M	-0.79	0.73739	T	-2.29	0.50992	N	0.697	0.70175	-0.1775	0.78243	T	0.392	0.74575	T	10	0.029409438	0.01068	T	.	.	.	0.399	0.71321	0.575	0.69957	0.856652639049	0.85527	0.7386314533236433	0.73808	0.70065952119	0.61107	0.502461075783	0.39171	T	0.318181	0.68957	T	-0.319883	0.06908	T	-0.219942	0.52743	T	0.0724176210184724	0.08987	T	0.756224	0.37950	T	0.17608139	0.38501	0.1801663	0.40799	0.17608139	0.38501	0.1801663	0.40798	-7.204	0.55510	T	.	.	0.225	0.45665	B	.	.	6.698036	0.95608	35	0.99304733670285694	0.58759	0.88838	0.48962	D	AEFBI	0.598690	0.59199	D	0.30776831473035	0.56545	3.819512	0.268869553611754	0.53730	3.540605	0.971514724104596	0.29294	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.76	4.76	0.60189	5.544000	0.66938	4.822000	0.45127	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.0:0.0:0.0:1.0	13.456	0.60649	842	0.36989	Peptidase M13, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.003788	0.05	1249.43	34	chr1	2606283	.	T	A	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.208;DP=439;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.324;SOR=0.851	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1057	9	0	1	0
chr1	2611305	2611305	T	G	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon4:c.A268C:p.T90P	.	.	.	.	.	.	.	.	.	.	.	3457493	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.462	0.512412969835	.	.	5.767e-05	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs770298035	3.027e-05	3.078e-05	1.535e-05	4.546e-05	0.0005	2.281e-05	2.027e-05	0.0004	0.0003	3.173e-05	0	0	0	0	0	0	1.708e-05	0.0005	1.316e-05	1.314e-05	0	2.695e-05	0.0004	2.19e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.102	0.53900	T	0.211	0.26631	T	0.007	0.14184	B	0.013	0.16460	B	0.362399	0.13650	N	0.707040	0.999489	0.47237	D	1.47	0.36993	L	-1.57	0.81900	D	-2.17	0.49018	N	0.449	0.48689	-0.3222	0.74360	T	0.415	0.76218	T	10	0.3808394	0.54181	T	0.512413	0.95322	D	0.462	0.75889	0.392	0.41606	0.68083381961	0.67812	0.7646848045696039	0.76417	0.706614473469	0.61453	0.487788408995	0.37133	T	0.534415	0.83945	D	-0.0743089	0.40637	T	-0.0441921	0.67417	D	0.0981658282019208	0.12154	T	0.659534	0.36032	T	0.4142778	0.61708	0.5274414	0.72697	0.4142778	0.61709	0.5274414	0.72697	-11.516	0.82414	D	.	.	0.092	0.33687	B	.;.	.;.	3.284015	0.45011	22.0	0.97548436440061859	0.34555	0.76328	0.37426	D	ALL	0.481519	0.52278	N	-0.354627254600918	0.27103	1.48433	-0.300205540819873	0.28093	1.563627	0.976444975880345	0.29725	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.604944	0.38103	0	.	.	3.77	2.66	0.30672	1.769000	0.38152	1.636000	0.27766	0.640000	0.52149	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0983:0.0:0.9017	8.721	0.33600	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	752.43	42	chr1	2611305	.	T	G	752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.583;DP=428;ExcessHet=0;FS=1.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8;ReadPosRankSum=1.89;SOR=0.842	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1333	9	0	1	0
chr1	2641664	2641664	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon8:c.C2944T:p.R982C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00995942131	.	0.00139776	0.0003	0	0	0	0	0	0	0.0004	8.41e-05	13	154602	rs545565598	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0014	0.0013	9.5e-05	0	0	0.0018	0	0.0004	4.265e-05	0.0002	0.0007	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0035	0.0030	0	0	0	0	0.0050	0	0	2.941e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.698236	0.10116	U	0.853808	0.971307	0.26099	N	-0.345	0.03330	N	.	.	.	.	.	.	.	.	-1.0362	0.18481	T	0.036	0.15726	T	8	0.004797101	0.00101	T	0.009959	0.25923	T	0.020	0.03691	0.542	0.65446	0.366659145958	0.36277	0.2367700363662724	0.23592	.	.	0.443857967854	0.31104	T	0.008537	0.07834	T	-0.62341	0.00105	T	-0.663977	0.08001	T	0.017942775474669	0.00520	T	0.248475	0.03691	T	0.048379026	0.08423	0.04485265	0.05903	0.048379026	0.08422	0.04485265	0.05903	-3.662	0.18759	T	.	.	0.072	0.05145	B	.;.	.;.	1.321670	0.17257	13.06	0.85989730381820351	0.16241	0.03056	0.07957	N	AEFDBHCI	0.048031	0.08154	N	-0.997261971277257	0.08662	0.4069965	-1.03376588385426	0.09048	0.4480441	0.999997108725669	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.505578	0.09266	0	0.604944	0.38103	0	.	.	3.85	1.38	0.21262	-0.058000	0.11707	2.457000	0.32838	-0.059000	0.16651	0.002000	0.15269	1.000000	0.68203	0.032000	0.13371	0.671:0.0:0.1186:0.2105	3.227	0.06336	.	.	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	762.43	33	chr1	2641664	.	G	A	762.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-0.022;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,967	9	0	1	0
chr1	2790142	2790142	G	A	exonic	TTC34	.	nonsynonymous SNV	TTC34:NM_001242672:exon2:c.C989T:p.A330V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1018598470	4.064e-06	4.771e-06	0	8.018e-06	6.335e-06	0	0	.	.	0	0	0	0	0	0	6.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2530161	0.42663	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515049	0.16594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27493	B	.	.	3.660833	0.52006	23.2	0.68936877061341784	0.08813	0.27052	0.23169	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00832406749545143	0.11654	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.058706	0.01089	0	0.331609	0.35723	3.99	2.03	0.25714	3.724000	0.54690	3.024000	0.36014	0.485000	0.22221	0.957000	0.33433	0.489000	0.25143	0.237000	0.22922	0.0928:0.1649:0.5724:0.1699	3.676	0.07826	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	30.85	3	chr1	2790142	.	G	A	30.85	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.71;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	5	0	1	4
chr1	3494421	3494421	G	A	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon32:c.C4079T:p.T1360M	.	421	1099	2	0	0	2	0.000909091	.	.	.	2340857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0464234641605	0.0003	0.000399361	0.0012	0.0020	0	0	0	0.0010	0.0058	0.0014	0.0002781	43	154602	rs369605349	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0006	0.0002	0	2.793e-05	2.483e-05	0.0009	0.0003	0.0005	0.0008	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	0.0004	0.0005	0.0006	0.043	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.954	0.80445	D	0.023715	0.26392	U	0.356855	1	0.08975	N	3.495	0.92709	M	1.39	0.33842	T	-5.37	0.84882	D	0.495	0.52829	-0.7620	0.57296	T	0.252	0.62142	T	10	0.09761405	0.17592	T	0.046423	0.62452	D	0.115	0.32236	.	.	0.37550373646	0.37164	0.33723940004229913	0.33636	0.530034928815	0.50556	0.481380909681	0.36246	T	0.08297	0.36949	T	-0.371182	0.03534	T	-0.362301	0.37785	T	0.113025641101455	0.13734	T	0.823718	0.48487	T	0.17333926	0.38076	0.16201071	0.37655	0.17333926	0.38076	0.16201071	0.37654	-6.505	0.52380	T	.	.	0.155	0.34205	B	.;.	.;.	3.309566	0.45468	22.1	0.99695119602782367	0.80248	0.78706	0.38872	D	AEFBI	0.287778	0.39984	N	0.174880854504501	0.49995	3.193935	-0.0693837955541418	0.36662	2.136531	0.998807558846388	0.37711	0.634777	0.41761	0	0.588066	0.40923	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	3.58	2.65	0.30588	3.640000	0.54086	3.772000	0.39758	0.676000	0.76740	0.809000	0.29839	0.730000	0.26410	0.008000	0.08271	0.0:0.3226:0.6774:0.0	12.456	0.55043	982	0.03397	.;Laminin EGF domain|EGF-like domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1110.43	34	chr1	3494421	.	G	A	1110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.89;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.82;ReadPosRankSum=-1.804;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,952	9	0	1	0
chr1	3498370	3498370	C	T	splicing	MEGF6	NM_001409:exon26:c.3352+1G>A	.	.	.	422	1099	1	0	0	1	0.000454752	0.9999	0.852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0.0004	0.0017	0	3.87e-05	0.0016	0	0.0001358	21	154602	rs199620875	4.212e-05	4.72e-05	4.121e-05	4.303e-05	0.0005	3.341e-05	3.029e-05	0.0001	0.0001	0	0.0001	0	0.0003	0	0.0005	2.435e-05	6.674e-05	0.0001	6.564e-05	6.561e-05	5.139e-05	8.054e-05	0.0006	3.513e-05	2.614e-05	0.0002	8.381e-05	0	0	6.534e-05	0	0.0006	0	0	7.351e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.26222	0.12641	T	-0.236167	0.51173	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.147850	0.62199	24.4	0.9336150577459057	0.23101	0.88088	0.47865	D	AEFBCI	.	.	.	0.638883428411664	0.75650	6.343828	0.393418649849696	0.61157	4.312142	0.999658477255932	0.41424	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.092715	0.02821	0	0.829698	0.49751	3.65	2.72	0.31179	2.986000	0.49059	1.871000	0.29387	0.490000	0.22344	0.962000	0.33725	0.950000	0.28999	0.812000	0.38265	0.0:0.9004:0.0:0.0996	10.496	0.43961	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	514.43	43	chr1	3498370	.	C	T	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=355;ExcessHet=0;FS=1.293;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.015;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1067	9	0	1	0
chr1	3509132	3509132	C	T	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon12:c.G1471A:p.G491R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0458307914746	.	.	0.0007	0	0.0069	0	0	3.343e-05	0	0	0.0002781	43	154602	rs778653330	0.0001	0.0001	0.0001	7.503e-05	0.0028	8.864e-05	8.345e-05	0.0024	0.0023	3.042e-05	0.0028	0	0	0	0.0002	1.898e-05	0	2.378e-05	7.228e-05	7.223e-05	6.422e-05	8.071e-05	0.0005	3.971e-05	3.127e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	2.94e-05	0	0.0002	0.429	0.09572	T	0.041	0.50514	D	0.145	0.51690	B	0.011	0.28749	B	0.394868	0.13204	N	0.649236	1	0.08975	N	1.83	0.48079	L	-2.12	0.86283	D	-2.6	0.55983	D	0.464	0.53620	-0.6166	0.64130	T	0.406	0.75557	T	10	0.008156508	0.00185	T	0.045831	0.62172	D	0.184	0.45763	0.376	0.38994	0.798710845723	0.79683	0.6340046418852128	0.63334	0.288324777556	0.31240	0.599999368191	0.52905	T	0.008163	0.07505	T	-0.309223	0.07816	T	-0.21969	0.52768	T	0.0811867543673196	0.10138	T	0.822018	0.48145	T	0.06627665	0.14244	0.08876818	0.20717	0.06627665	0.14244	0.08876818	0.20717	-5.423	0.41140	T	.	.	0.115	0.23183	B	.;.	.;.	1.622562	0.20726	14.88	0.79544878265746477	0.12790	0.44366	0.27302	N	AEFBI	0.161242	0.28727	N	-0.614032426182452	0.18521	0.9622865	-0.696701373207386	0.17043	0.9044265	0.999476711756804	0.39898	0.732398	0.92422	0	0.547309	0.14657	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.4	3.4	0.38031	2.438000	0.44495	2.355000	0.32337	0.587000	0.30956	0.042000	0.21073	0.268000	0.24029	0.004000	0.06068	0.0:1.0:0.0:0.0	12.267	0.54003	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	176.43	35	chr1	3509132	.	C	T	176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.885;DP=352;ExcessHet=0;FS=3.368;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=-0.332;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,940	9	0	1	0
chr1	3631558	3631558	G	A	exonic	WRAP73	.	nonsynonymous SNV	WRAP73:NM_017818:exon11:c.C1148T:p.P383L	.	421	1079	22	0	0	22	0.0100917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	.	0.0019	0.00519169	0.0047	0.0007	0.0037	0.0001	0	0.0040	0.0026	0.0149	0.0040038	619	154602	rs151110688	0.0029	0.0029	0.0026	0.0033	0.0126	0.0029	0.0028	0.0120	0.0117	0.0003	0.0029	0.0121	7.561e-05	7.785e-05	0.0078	0.0022	0.0040	0.0126	0.0027	0.0027	0.0027	0.0028	0.0122	0.0025	0.0024	0.0097	0.0088	0.0005	0	0.0056	0.0127	0.0004	0	0.0068	0.0028	0.0061	0.0122	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	2.96	0.10101	T	-9.38	0.98366	D	0.893	0.89800	-0.9020	0.47782	T	0.091	0.34737	T	10	0.010327965	0.00230	T	.	.	.	0.530	0.80188	.	.	0.473143432122	0.46942	0.6306573991644232	0.62999	0.775894844478	0.65027	0.501217484474	0.38998	T	0.226463	0.59150	T	-0.122323	0.32747	T	0.062546	0.74414	D	0.127288544161297	0.15129	T	0.960504	0.85148	D	0.88864785	0.90392	0.73747844	0.84484	0.88864785	0.90393	0.73747844	0.84485	-10.239	0.75330	D	.	.	0.188	0.50481	B	.;.	.;.	4.934202	0.81377	27.5	0.9991327613985016	0.98238	0.96024	0.67189	D	AEFDBCI	0.892278	0.82906	D	0.924847458241995	0.92924	11.71118	0.849086251393675	0.92963	11.73892	0.999999999997446	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	9.219000	0.94313	8.561000	0.77567	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0:0.0:1.0:0.0	18.280	0.90035	951	0.11083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.006793	0.008772	0.000000	0.017241	0.021341	0.011364	0.05	987.43	35	chr1	3631558	.	G	A	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=423;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-1.09;SOR=1.005	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	9	0	1	0
chr1	3763781	3763781	C	T	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon8:c.C1397T:p.T466M	.	397	1118	7	0	0	7	0.00312082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0058	0.00339457	0.0068	0.0012	0.0056	0	0.0109	0.0099	0.0044	0.0007	0.0064165	992	154602	rs144028564	0.0067	0.0067	0.0067	0.0067	0.0074	0.0066	0.0065	0.0070	0.0069	0.0011	0.0074	0.0184	0.0001	0.0094	0.0019	0.0071	0.0065	0.0012	0.0069	0.0069	0.0068	0.0070	0.0110	0.0066	0.0064	0.0097	0.0092	0.0012	0.0022	0.0110	0.0204	0.0004	0.0086	0	0.0095	0.0090	0.0012	0.381	0.11156	T	0.136	0.34009	T	0.0	0.02946	B	0.001	0.04355	B	0.077984	0.02322	N	1.973700	1	0.08975	N	0.11	0.08516	N	2.25	0.17761	T	-0.48	0.15379	N	0.161	0.16864	-0.9941	0.31538	T	0.014	0.05608	T	10	0.0037753582	0.00070	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.09067344847882812	0.09000	0.13105625566	0.14780	0.287918627262	0.08620	T	0.001754	0.01176	T	-0.765393	0.00014	T	-0.859887	0.00844	T	0.00164817917624442	0.00017	T	0.263374	0.04265	T	0.01385771	0.00072	0.031199833	0.01675	0.01385771	0.00072	0.031199833	0.01675	-3.209	0.12591	T	.	.	0.066	0.02313	B	.	.	-1.476959	0.00309	0.005	0.93255571769026302	0.22947	0.00243	0.01347	N	AEFDBI	0.023133	0.01247	N	-1.2574682187906	0.04202	0.1891989	-1.26791833404371	0.04871	0.2308145	0.254859351864128	0.18722	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.76	-3.17	0.04882	-3.765000	0.00418	-6.632000	0.01346	-1.608000	0.00884	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1621:0.4807:0.0:0.3573	5.202	0.14591	803	0.44167	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.05	1167.43	41	chr1	3763781	.	C	T	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.343;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.2;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	9	0	1	0
chr1	3829868	3829868	G	A	exonic	CEP104	.	nonsynonymous SNV	CEP104:NM_014704:exon14:c.C1966T:p.R656C	Joubert syndrome 25, Autosomal recessive	429	1086	7	0	0	7	0.00321248	.	.	.	690595	Joubert_syndrome_25|not_provided	MONDO:MONDO:0014770,MedGen:C4084842,OMIM:616781,Orphanet:475|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.409	0.0662248265691	0.0035	0.000599042	0.0028	0.0010	0.0008	0.0001	0.0012	0.0043	0	0.0015	0.0028848	446	154602	rs148465057	0.0042	0.0042	0.0043	0.0041	0.0051	0.0041	0.0041	0.0050	0.0049	0.0008	0.0010	0.0003	0.0004	0.0012	0.0016	0.0051	0.0034	0.0015	0.0027	0.0027	0.0029	0.0025	0.0047	0.0024	0.0024	0.0043	0.0042	0.0010	0.0011	0.0012	0	0.0002	0.0010	0	0.0047	0.0014	0.0010	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	2.06	0.20523	T	-5.98	0.89334	D	0.809	0.80473	-0.9311	0.43977	T	0.141	0.46183	T	10	0.047321856	0.04035	T	0.066225	0.69812	D	0.409	0.72099	.	.	0.641555005616	0.63859	0.5386509971757536	0.53790	0.818007052444	0.67022	0.483595311642	0.36552	T	0.335846	0.70542	T	-0.0461738	0.45026	T	0.161989	0.80929	D	0.0682306906457835	0.08401	T	0.926807	0.73035	D	0.6482695	0.75272	0.35916236	0.61380	0.54157764	0.69486	0.30200413	0.56232	-11.905	0.84384	D	.	.	0.225	0.45641	B	.	.	5.579156	0.92288	32	0.99933905456187877	0.99535	0.98803	0.87055	D	AEFDBI	0.858914	0.77650	D	0.763681048896299	0.83793	8.11134	0.699765929696552	0.82359	7.747931	0.999717444855181	0.42101	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.548000	0.81103	11.496000	0.92946	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	0.0:0.0:0.8418:0.1582	13.295	0.59727	976	0.04745	TOG domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.007576	0.05	1091.43	35	chr1	3829868	.	G	A	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.754;DP=454;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.527;SOR=0.612	GT:AD:DP:GQ:PL	0/1:72,52:124:99:1103,0,1730	9	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	105.02	58	chr1	3836493	.	A	C	105.02	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.804;DP=353;ExcessHet=0.2348;FS=10.685;InbreedingCoeff=-0.2516;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.54;ReadPosRankSum=2.26;SOR=2.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:18:.:.:0,18,491:.	4	0	2	4
chr1	4712519	4712521	GCC	-	exonic	AJAP1	.	nonframeshift deletion	AJAP1:NM_001042478:exon2:c.649_651del:p.A218del,AJAP1:NM_018836:exon2:c.649_651del:p.A218del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245696035	2.397e-05	2.599e-05	2.452e-05	2.34e-05	0.0009	1.74e-05	1.54e-05	0.0006	0.0006	0	0	0	0.0009	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5126.1	62	chr1	4712518	.	GGCC	G	5126.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.69;DP=629;ExcessHet=0.2348;FS=0.47;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=21.1;ReadPosRankSum=0.683;SOR=0.673	GT:AD:DP:GQ:PL	0/1:49,66:115:99:2533,0,1775	8	0	2	0
chr1	6555409	6555409	G	C	exonic	TAS1R1	.	nonsynonymous SNV	TAS1R1:NM_138697:exon1:c.G36C:p.Q12H,TAS1R1:NM_177540:exon1:c.G36C:p.Q12H	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0002	0.0113818	0.0057	0.0002	0	0.0733	0	2.634e-05	0.0039	0.0007	0.0035252	545	154602	rs75881102	0.0016	0.0016	0.0017	0.0015	0.0513	0.0016	0.0015	0.0495	0.0487	0	6.806e-05	0	0.0513	0	0.0002	3.425e-05	0.0039	0.0005	0.0020	0.0020	0.0018	0.0022	0.0509	0.0018	0.0017	0.0459	0.0439	0	0	0.0017	0	0.0509	0	0	4.409e-05	0.0024	0.0006	0.005	0.91255	D	0.168	0.34359	T	0.012	0.16265	B	0.006	0.12133	B	0.037741	0.01838	N	2.257320	0.999148	0.21576	N	.	.	.	-2.46	0.91192	D	-0.34	0.22294	N	0.189	0.27673	-0.6805	0.61349	T	0.109	0.39462	T	10	0.0036830604	0.00068	T	.	.	.	0.242	0.54781	0.487	0.57098	0.551009825273	0.54757	0.5893080090986877	0.58860	0.15539898781	0.17539	0.395897090435	0.24498	T	0.047341	0.27694	T	-0.310079	0.07740	T	-0.180939	0.56437	T	0.0777268205650559	0.09693	T	0.640436	0.25296	T	0.072656915	0.16180	0.096488826	0.22929	0.072656915	0.16180	0.096488826	0.22928	-3.658	0.18700	T	.	.	0.159	0.35119	B	.;.	.;.	0.950609	0.13269	9.768	0.9864516869967761	0.44110	0.47496	0.27996	N	AEFDGBCIJ	0.080929	0.16368	N	-0.855265901914736	0.11921	0.5780545	-0.770268785450118	0.15225	0.7996643	0.999988284130698	0.51787	0.403107	0.06075	0	0.541556	0.11502	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.46	1.17	0.19998	0.729000	0.25696	2.052000	0.30351	-0.734000	0.03706	0.990000	0.36992	0.999000	0.35428	0.007000	0.07825	0.1089:0.0:0.4765:0.4146	4.612	0.11796	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002020	0.000000	0.001359	0.002924	0.000000	0.008621	0.003067	0.000000	0.05	705.43	33	chr1	6555409	.	G	C	705.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.48;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.83;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	9	0	1	0
chr1	6632889	6632889	C	T	exonic	THAP3	.	nonsynonymous SNV	THAP3:NM_001195752:exon5:c.C529T:p.H177Y,THAP3:NM_001195753:exon6:c.C532T:p.H178Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.397860294551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968143932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.993	0.68779	D	0.979	0.79672	D	0.006697	0.31864	N	0.211412	0.99762	0.81001	D	2.085	0.57729	M	-3.99	0.96308	D	-4.48	0.77965	D	0.652	0.67650	0.968	0.96669	D	0.909	0.96986	D	10	0.797339	0.79189	D	0.39786	0.93332	D	0.640	0.86283	0.349	0.34598	0.913766752971	0.91290	0.4809612143496493	0.48016	1.13332111402	0.78691	0.672153413296	0.63144	T	0.193725	0.54928	T	0.233683	0.77067	D	0.0978926	0.76768	D	0.989117324352264	0.79372	D	0.80342	0.45053	T	0.42294854	0.62287	0.49044633	0.70520	0.42294854	0.62288	0.49044633	0.70521	-7.247	0.56480	T	.	.	0.717	0.73934	P	.;.	.;.	4.709019	0.75631	26.4	0.99716318213912158	0.81703	0.91187	0.53031	D	AEFDBCI	0.628351	0.61047	D	0.556172317222219	0.70459	5.504556	0.489561293977961	0.67298	5.065126	0.999972958123827	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.05	4.05	0.46415	4.711000	0.61570	7.544000	0.60141	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	11.575	0.50113	739	0.53257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1791.43	37	chr1	6632889	.	C	T	1791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.565;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.717;SOR=0.711	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1206	9	0	1	0
chr1	7664885	7664885	T	G	exonic	CAMTA1	.	nonsynonymous SNV	CAMTA1:NM_001349608:exon8:c.T2248G:p.F750V,CAMTA1:NM_001349612:exon8:c.T2248G:p.F750V,CAMTA1:NM_001349609:exon9:c.T2338G:p.F780V,CAMTA1:NM_001349610:exon9:c.T2338G:p.F780V,CAMTA1:NM_015215:exon9:c.T2338G:p.F780V	Cerebellar ataxia, nonprogressive, with mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3424544	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.463	0.0450259444053	7.7e-05	.	8.338e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs377269648	4.518e-05	4.515e-05	4.767e-05	4.265e-05	5.935e-05	3.643e-05	3.323e-05	4.786e-05	4.366e-05	0	0	0	0	0	0	5.935e-05	0	0	1.971e-05	1.97e-05	3.855e-05	0	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.131	0.34596	T	0.993	0.65571	D	0.968	0.71741	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	1.01	0.41058	T	-2.75	0.58407	D	0.885	0.88356	-0.7185	0.59536	T	0.218	0.57994	T	10	0.8168669	0.80919	D	0.045026	0.61779	D	0.463	0.75956	.	.	0.74514148438	0.74284	0.6979037979218573	0.69731	1.58648572353	0.88459	0.887041330338	0.94886	D	0.233608	0.60045	T	0.227704	0.76506	D	0.104791	0.77226	D	0.937645077705383	0.60760	D	0.932007	0.74652	D	0.62812376	0.74198	0.5988971	0.76703	0.62812376	0.74199	0.5988971	0.76704	-12.628	0.87774	D	0.8412955095311834	0.90975	0.944	0.86264	P	.	.	4.606530	0.73013	25.9	0.9901194600889951	0.50377	0.99605	0.97912	D	AEFDBI	0.914025	0.87682	D	0.672983570350745	0.77863	6.757259	0.667568183269724	0.79927	7.186586	0.999999629342543	0.74766	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	7.569000	0.81713	7.830000	0.70079	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.111	0.72029	913	0.21160	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2614.43	36	chr1	7664885	.	T	G	2614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.353;DP=587;ExcessHet=0;FS=0.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.231;SOR=0.642	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1195	9	0	1	0
chr1	7786781	7786781	T	C	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon4:c.T335C:p.M112T,PER3:NM_001289862:exon4:c.T335C:p.M112T,PER3:NM_001289863:exon4:c.T335C:p.M112T,PER3:NM_001377275:exon4:c.T335C:p.M112T,PER3:NM_001377276:exon4:c.T335C:p.M112T,PER3:NM_016831:exon4:c.T335C:p.M112T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00850871884553	.	.	1.647e-05	0	0	0	0	1.499e-05	0	6.056e-05	1.29e-05	2	154602	rs760594236	1.849e-05	1.847e-05	1.908e-05	1.789e-05	2.319e-05	1.266e-05	1.085e-05	1.545e-05	1.306e-05	0	0	0	0	0	0	2.251e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03685	T	0.828	0.04507	T	0.009	0.29645	B	0.023	0.24975	B	0.094924	0.02491	N	2.100090	1	0.08975	N	-0.49	0.02651	N	1.66	0.27486	T	1.13	0.01182	N	0.068	0.12770	-1.0430	0.16413	T	0.018	0.07706	T	10	0.03725478	0.02070	T	0.008509	0.22507	T	0.008	0.00669	0.322	0.30226	0.158396225186	0.15383	0.24951558320620143	0.24865	0.161994770066	0.18274	0.269748747349	0.06108	T	0.006247	0.22404	T	-0.44151	0.01267	T	-0.775121	0.02603	T	0.0428138561865752	0.04203	T	0.492351	0.15167	T	0.017424915	0.00272	0.03392133	0.02369	0.017424915	0.00272	0.03392133	0.02369	-3.892	0.24162	T	0.11394793921769475	0.10028	0.062	0.02257	B	.;.;.;.;.	.;.;.;.;.	-1.114445	0.00623	0.016	0.20681587895211523	0.00754	0.00955	0.03671	N	AEFDBI	0.031224	0.03291	N	-1.86785199599332	0.00399	0.01717225	-1.93419955585819	0.00418	0.01850204	0.999999955021923	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.32	-8.64	0.00758	-3.093000	0.00669	-5.486000	0.01701	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.1909:0.4018:0.1927:0.2146	2.602	0.04573	726	0.54788	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	847.43	108	chr1	7786781	.	T	C	847.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.299;DP=422;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.85;ReadPosRankSum=0.098;SOR=0.538	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1226	9	0	1	0
chr1	7786835	7786835	C	T	exonic	PER3	.	nonsynonymous SNV	PER3:NM_001289861:exon4:c.C389T:p.T130I,PER3:NM_001289862:exon4:c.C389T:p.T130I,PER3:NM_001289863:exon4:c.C389T:p.T130I,PER3:NM_001377275:exon4:c.C389T:p.T130I,PER3:NM_001377276:exon4:c.C389T:p.T130I,PER3:NM_016831:exon4:c.C389T:p.T130I	.	.	.	.	.	.	.	.	0.9010	0.616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.037990185743	.	.	8.259e-06	0	0	0	0	0	0	6.098e-05	6.5e-06	1	154602	rs754416675	1.423e-06	4.792e-06	0	2.848e-06	2.352e-05	2.4e-07	9e-08	3.9e-06	1.46e-06	0	0	0	0	0	0	0	0	2.352e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.61437	D	0.011	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000006	0.62929	D	0.062592	0.996497	0.43237	D	2.83	0.82355	M	1.42	0.33189	T	-4.14	0.75776	D	0.706	0.72388	-0.7217	0.59379	T	0.189	0.53960	T	10	0.60818666	0.67294	D	0.03799	0.57951	D	0.216	0.50959	0.375	0.38830	0.686309345283	0.68362	0.5604255778456886	0.55969	0.407735016949	0.41623	0.533929228783	0.43588	T	0.118196	0.68893	T	-0.110681	0.34656	T	-0.296132	0.45132	T	0.977452874183655	0.71852	D	0.924807	0.72410	D	0.38104415	0.59392	0.26627868	0.52471	0.38104415	0.59392	0.26627868	0.52470	-8.791	0.66342	D	0.8248383061539777	0.89702	0.348	0.60448	A	.;.;.;.;.	.;.;.;.;.	4.545845	0.71494	25.7	0.99876829207549866	0.95328	0.93810	0.59256	D	AEFDBI	0.323429	0.42562	N	0.590369860033289	0.72572	5.827057	0.515004505120998	0.68997	5.298117	0.999982184032036	0.51787	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	4.31	4.31	0.50718	1.233000	0.32250	3.443000	0.38394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1621:0.8379:0.0:0.0	12.943	0.57754	726	0.54788	PAS domain;.;PAS domain;.;PAS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	358.43	63	chr1	7786835	.	C	T	358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.523;DP=378;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.69;ReadPosRankSum=-0.308;SOR=0.42	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1226	9	0	1	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	308.22	27	chr1	7933282	.	T	C	308.22	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.686;DP=268;ExcessHet=3.8694;FS=112.452;InbreedingCoeff=-0.418;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=0.235;SOR=7.65	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:16,0:16:0:.:.:0,0,121:.	2	0	5	3
chr1	7970934	7970934	G	A	exonic	PARK7	.	nonsynonymous SNV	PARK7:NM_001123377:exon5:c.G293A:p.R98Q,PARK7:NM_007262:exon5:c.G293A:p.R98Q	Parkinson disease 7, autosomal recessive early-onset, Autosomal recessive	0	1458	62	2	0	66	0.0221328	.	.	.	448380	Autosomal_recessive_early-onset_Parkinson_disease_7|Renal_cysts_and_diabetes_syndrome|not_provided|PARK7-related_disorder|not_specified	MONDO:MONDO:0011658,MedGen:C1853445,OMIM:606324,Orphanet:2828|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0081	0.0061901	0.0081	0.0014	0.0058	0	0.0014	0.0105	0.0077	0.0114	0.0084216	1302	154602	rs71653619	0.0095	0.0095	0.0094	0.0097	0.0189	0.0094	0.0094	0.0160	0.0149	0.0016	0.0061	0.0111	0.0001	0.0013	0.0189	0.0104	0.0094	0.0122	0.0071	0.0071	0.0078	0.0065	0.0114	0.0068	0.0067	0.0107	0.0104	0.0019	0.0208	0.0066	0.0089	0	0.0008	0.0204	0.0114	0.0085	0.0108	0.509	0.07521	T	0.617	0.08594	T	0.005	0.12996	B	0.005	0.11217	B	0.000229	0.47286	N	0.235976	0.983594	0.26640	N	0.56	0.15190	N	-2.07	0.85943	D	-0.23	0.10656	N	0.4	0.44090	-0.8486	0.52065	T	0.232	0.59855	T	10	0.007415384	0.00169	T	.	.	.	0.202	0.48754	.	.	0.595664802742	0.59245	0.6617246050350262	0.66109	0.145711389982	0.16455	0.418447196484	0.27624	T	0.213762	0.57516	T	-0.348376	0.04830	T	-0.258914	0.48934	T	0.00210440679837054	0.00022	T	0.787021	0.44511	T	0.3051896	0.53366	0.11414655	0.27552	0.2824717	0.51284	0.118711516	0.28654	-6.663	0.51531	T	0.10339772836481027	0.07969	0.132	0.30739	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.429467	0.47660	22.5	0.71239704748064825	0.09562	0.94024	0.59884	D	AEFDBI	0.881393	0.80872	D	-0.622150246714128	0.18280	0.9477725	-0.4842833585006	0.22586	1.227488	0.99927417882496	0.38974	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	3.22	0.36041	5.372000	0.65909	8.567000	0.77590	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.1872:0.0:0.8128:0.0	8.669	0.33303	803	0.44167	DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI;DJ-1/PfpI	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.015152	0.013587	0.011696	0.050000	0.008621	0.018293	0.018939	0.05	915.43	33	chr1	7970934	.	G	A	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=387;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.37;SOR=0.887	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	9	0	1	0
chr1	8358328	8358328	C	T	exonic	RERE	.	nonsynonymous SNV	RERE:NM_001042682:exon10:c.G2545A:p.A849T,RERE:NM_001042681:exon20:c.G4207A:p.A1403T,RERE:NM_012102:exon21:c.G4207A:p.A1403T	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Autosomal dominant	428	1093	0	1	0	2	0.000914077	.	.	.	1888139	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.372	0.0564084873557	7.7e-05	.	5.963e-05	0	0.0006	0	0	0	0	0	4.53e-05	7	154602	rs370883107	2.327e-05	2.326e-05	2.724e-05	1.926e-05	0.0003	1.675e-05	1.478e-05	0.0002	0.0002	0	0.0003	0	0.0001	1.889e-05	0	1.079e-05	3.316e-05	1.159e-05	1.971e-05	1.97e-05	1.284e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.823e-05	2.855e-05	0	0	0	0	0.0004	9.413e-05	0	0	0	0	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.977	0.73820	D	.	.	.	.	1	0.81001	D	2.37	0.68279	M	0.07	0.61677	T	-2.99	0.65627	D	0.749	0.79022	-0.3426	0.73768	T	0.366	0.72651	T	9	0.53930676	0.63628	D	0.056408	0.66592	D	0.372	0.69102	.	.	0.683108194731	0.68040	0.7678476255968607	0.76733	0.344135329823	0.36337	0.810183107853	0.83521	D	0.619357	0.88046	D	-0.0618557	0.42618	T	-0.0104719	0.69653	D	0.442956465696816	0.30538	T	0.976102	0.95276	D	0.41389626	0.61683	0.5607001	0.74583	0.41389626	0.61683	0.5607001	0.74583	-10.723	0.79267	D	0.4619676030968965	0.54401	0.485	0.69329	A	.;.;.;.	.;.;.;.	4.857888	0.79462	27.1	0.9992841103956086	0.99222	0.96948	0.71820	D	AEFBHCI	0.666170	0.63473	D	0.651966171653652	0.76496	6.497266	0.608590724689636	0.75561	6.332632	0.999999999995671	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	6.124000	0.71349	4.926000	0.46086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	18.990	0.92763	867	0.32089	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1660.43	33	chr1	8358328	.	C	T	1660.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.228;DP=426;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=2.35;SOR=0.545	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1266	9	0	1	0
chr1	9607681	9607681	G	A	exonic	TMEM201	.	nonsynonymous SNV	TMEM201:NM_001130924:exon7:c.G1285A:p.A429T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00156064867967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224718071	4.287e-06	7.524e-06	2.82e-06	5.795e-06	5.56e-06	1.54e-06	1.01e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.431228	0.12745	N	0.751071	1	0.08975	N	-0.49	0.02651	N	.	.	.	-0.12	0.08809	N	0.021	0.00339	-0.9856	0.33687	T	0.035	0.14943	T	9	0.019906312	0.00451	T	0.001561	0.02471	T	0.025	0.05312	0.146	0.04941	0.043077524339	0.03247	0.23828618594757925	0.23742	0.254192981874	0.27987	0.292498588562	0.09287	T	0.001939	0.01356	T	-0.257235	0.13225	T	-0.607277	0.12207	T	0.0161243560341668	0.00389	T	0.69513	0.30474	T	0.030727012	0.02785	0.046161152	0.06374	0.030727012	0.02785	0.046161152	0.06373	-3.693	0.19215	T	.	.	0.064	0.01715	B	.	.	0.045196	0.04605	1.274	0.57510287517543046	0.05785	0.02470	0.06930	N	AEFDBI	0.024246	0.01470	N	-0.856440873841102	0.11892	0.5764872	-0.959113101869886	0.10712	0.5412836	0.982042093300652	0.30345	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.51	-5.98	0.02034	-0.198000	0.09506	-1.329000	0.05702	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.937000	0.47636	0.6498:0.0:0.2531:0.0971	9.173	0.36252	762	0.50290	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1439.43	37	chr1	9607681	.	G	A	1439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.384;DP=436;ExcessHet=0;FS=5.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.314;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	9	0	1	0
chr1	9942708	9942708	T	C	exonic	LZIC	.	nonsynonymous SNV	LZIC:NM_001316974:exon2:c.A28G:p.M10V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00943056662052	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321519397	8.797e-07	1.368e-06	1.727e-06	0	1.086e-06	0	0	.	.	0	0	0	0	0	0	1.086e-06	0	0	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1054.43	37	chr1	9942708	.	T	C	1054.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.955;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.617;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	9	0	1	0
chr1	10324813	10324813	A	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon24:c.A2455C:p.S819R,KIF1B:NM_001365951:exon26:c.A2593C:p.S865R,KIF1B:NM_001365952:exon26:c.A2593C:p.S865R	Pheochromocytoma, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	212065	not_specified|KIF1B-related_disorder|Charcot-Marie-Tooth_disease_type_2|Neuroblastoma|not_provided	MedGen:CN169374|.|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|Human_Phenotype_Ontology:HP:0003006,Human_Phenotype_Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819,Orphanet:635|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.203	0.0552539015225	0.0002	0.000199681	0.0005	0	8.637e-05	0	0	0.0003	0	0.0020	0.000401	62	154602	rs140015591	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	5.974e-05	2.236e-05	0	0	0	0.0019	0.0001	0.0003	0.0020	0.0002	0.0002	0.0001	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0027	0.07	0.36113	T	0.231	0.26066	T	0.018	0.39346	B	0.005	0.33763	B	0.113296	0.19321	N	0.594135	1	0.08975	N	1.24	0.30952	L	-1.04	0.76561	T	-2.19	0.52451	N	0.388	0.42931	-0.5797	0.65629	T	0.347	0.71186	T	10	0.013733387	0.00290	T	0.055254	0.66166	D	0.203	0.48915	0.28	0.23483	0.358461578395	0.35455	0.32385600642809853	0.32298	0.480496331412	0.47068	0.340876281261	0.16569	T	0.21082	0.57142	T	-0.433936	0.01404	T	-0.41511	0.31636	T	0.0315681055838614	0.02238	T	0.937606	0.76517	D	0.06760196	0.14655	0.09778286	0.23289	0.09682651	0.22812	0.11483441	0.27720	-13.099	0.90549	D	.	.	0.283	0.54573	B	.;.;.;.;.	.;.;.;.;.	1.290857	0.16917	12.84	0.97799280949174983	0.36052	0.14046	0.18193	N	AEFDBI	0.126548	0.24354	N	-1.11769318026756	0.06328	0.291007	-1.19571223126447	0.05981	0.2865523	0.00432771497233626	0.10502	0.732398	0.92422	0	0.601575	0.49859	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.69	-2.96	0.05212	0.211000	0.17268	0.327000	0.17244	-0.566000	0.04804	0.000000	0.06391	0.000000	0.08366	0.475000	0.28453	0.3743:0.1118:0.5139:0.0	10.393	0.43367	230	0.91032	.;Kinesin-like KIF1-type;.;Kinesin-like KIF1-type;Kinesin-like KIF1-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.000000	0.000000	0.050000	0.008621	0.000000	0.011364	0.05	1174.43	34	chr1	10324813	.	A	C	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.408;DP=410;ExcessHet=0;FS=2.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.974;SOR=0.485	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	9	0	1	0
chr1	10326244	10326244	G	A	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671A:p.E891K,KIF1B:NM_001365951:exon27:c.G2809A:p.E937K,KIF1B:NM_001365952:exon27:c.G2809A:p.E937K	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0702147198646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.40068	T	0.031	0.53788	D	0.974	0.57829	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.8	0.74793	T	-1.95	0.47344	N	0.842	0.86297	-0.1741	0.78328	T	0.495	0.80854	T	10	0.7175096	0.73443	D	0.070215	0.70941	D	0.434	0.73951	0.267	0.21418	0.854749708288	0.85335	0.7995837043823811	0.79912	1.31774924333	0.83370	0.870485365391	0.92638	D	0.402952	0.75983	T	0.313264	0.83988	D	0.212206	0.83779	D	0.895268738269806	0.54679	D	0.990041	0.96927	D	0.4144187	0.61718	0.37101015	0.62339	0.4144187	0.61719	0.37101015	0.62339	-12.881	0.89052	D	.	.	0.391	0.62221	A	.;.;.;.;.	.;.;.;.;.	5.153233	0.86316	28.9	0.99879548282218389	0.95572	0.99208	0.92825	D	AEFGBI	0.899206	0.84333	D	0.534574101761821	0.69150	5.316186	0.632757527234062	0.77333	6.658991	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5513.28	34	chr1	10326244	.	G	A	5513.28	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:149,0:198:99:0|1:10326244_G_C:823,1270,6868:10326244	9	0	1	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	5513.28	34	chr1	10326244	.	G	C	5513.28	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-6.793;DP=1395;ExcessHet=4.5998;FS=275.809;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.5;ReadPosRankSum=1.84;SOR=11.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,49:198:99:0|1:10326244_G_C:823,0,5455:10326244	5	0	5	0
chr1	10660248	10660248	A	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.T794C:p.V265A,CASZ1:NM_017766:exon6:c.T794C:p.V265A	.	424	1071	26	1	0	28	0.0129032	.	.	.	695947	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0069	0.00299521	0.0073	0.0010	0.0046	0	0.0017	0.0115	0.0056	0.0022	0.0069469	1074	154602	rs138985539	0.0081	0.0081	0.0082	0.0080	0.0104	0.0080	0.0079	0.0087	0.0086	0.0016	0.0059	0.0313	0	0.0021	0.0104	0.0088	0.0088	0.0024	0.0070	0.0070	0.0075	0.0065	0.0102	0.0066	0.0065	0.0096	0.0094	0.0015	0	0.0095	0.0297	0.0002	0.0011	0.0306	0.0102	0.0114	0.0021	0.908	0.02477	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.083835	0.20731	N	0.492755	1	0.08975	N	-0.345	0.03330	N	.	.	.	0.52	0.02853	N	0.052	0.02366	-0.9854	0.33735	T	0.015	0.05801	T	9	0.0022799373	0.00033	T	.	.	.	0.029	0.06676	.	.	0.043077524339	0.03247	0.08958754732725842	0.08891	.	.	0.458169311285	0.33059	T	0.111085	0.42630	T	-0.703405	0.00035	T	-0.771493	0.02719	T	0.000453725176605205	0.00004	T	0.349165	0.07749	T	0.0205099	0.00611	0.024355443	0.00453	0.026193097	0.01646	0.024355443	0.00453	-2.53	0.06004	T	.	.	0.051	0.00234	B	.;.	.;.	-0.290436	0.02660	0.340	0.20271689420521952	0.00722	0.04523	0.10152	N	AEFBI	0.045906	0.07563	N	-1.40019804897115	0.02638	0.1167413	-1.31256629560817	0.04267	0.2008946	0.777367603031914	0.23775	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.38	1.3	0.20778	0.977000	0.29072	0.320000	0.17174	-0.745000	0.03636	0.582000	0.27602	0.000000	0.08366	0.047000	0.14932	0.4216:0.0:0.4186:0.1597	3.961	0.08906	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007056	0.005102	0.009511	0.008772	0.000000	0.000000	0.015244	0.000000	0.05	1045.43	38	chr1	10660248	.	A	G	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=450;ExcessHet=0;FS=1.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=1.41;SOR=0.534	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr1	10948556	10948556	G	A	exonic	C1orf127	.	stopgain	C1orf127:NM_001366227:exon10:c.C1162T:p.R388X,C1orf127:NM_001170754:exon12:c.C1579T:p.R527X	.	416	1099	6	1	0	8	0.00362647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00119808	0.0011	9.634e-05	0.0003	0	0	0.0002	0.0011	0.0073	0.0009573	148	154602	rs146743970	0.0005	0.0005	0.0003	0.0008	0.0072	0.0005	0.0005	0.0067	0.0065	0	0.0001	0	2.519e-05	0	0.0003	8.093e-05	0.0004	0.0072	0.0003	0.0003	0.0002	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	2.405e-05	0	0.0003	0	0	0	0	2.94e-05	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	0.016122	0.01433	N	2.848190	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.019	0.00279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0298398	0.55701	T	0.273533	0.86767	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.701076	0.96777	36	0.98607864084398644	0.43598	0.13083	0.17653	N	AEFDBHCI	0.090047	0.18250	N	-0.0716543577450887	0.38640	2.26617	-0.440912045205142	0.23807	1.300269	0.0173810677814046	0.12943	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.07	0.378	0.15435	1.047000	0.29976	0.281000	0.16766	0.618000	0.50648	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.4841:0.3435:0.1724	7.099	0.24504	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1009.43	76	chr1	10948556	.	G	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=621;ExcessHet=0;FS=4.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.654;SOR=0.389	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	9	0	1	0
chr1	11042883	11042883	G	A	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon6:c.C881T:p.T294M	MASP2 deficiency, Autosomal recessive	0	1472	50	0	0	50	0.0167001	.	.	.	731568	not_provided|Immunodeficiency_due_to_MASP-2_deficiency|MASP2-related_disorder	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.053	.	0.0028	0.00459265	0.0063	0.0021	0.0007	0	0.0251	0.0047	0.0133	0.0147	0.005705	882	154602	rs139962539	0.0055	0.0055	0.0051	0.0059	0.0159	0.0054	0.0054	0.0152	0.0149	0.0017	0.0011	0.0008	2.519e-05	0.0248	0.0104	0.0044	0.0052	0.0159	0.0055	0.0056	0.0040	0.0072	0.0143	0.0052	0.0051	0.0116	0.0106	0.0020	0.0022	0.0018	0.0006	0.0004	0.0326	0	0.0044	0.0043	0.0143	0.037	0.43085	D	0.008	0.67890	D	0.037	0.20876	B	0.028	0.21332	B	0.661655	0.10422	N	0.807051	0.825838	0.28824	N	2.015	0.55033	M	1.93	0.22881	T	-3.03	0.62747	D	0.17	0.18103	-0.9860	0.33590	T	0.035	0.15247	T	10	0.005970478	0.00134	T	.	.	.	0.053	0.14996	.	.	0.124217242631	0.12060	0.5123346054005095	0.51155	0.0407694351807	0.04372	0.255066126585	0.04321	T	0.167891	0.51469	T	-0.611316	0.00124	T	-0.638566	0.09773	T	0.0146837639690297	0.00305	T	0.690331	0.29972	T	0.03418397	0.03786	0.09641339	0.22907	0.030420668	0.02701	0.09641339	0.22906	-11.434	0.81985	D	0.4720342199219044	0.55229	0.102	0.18037	B	.	.	2.248819	0.28726	17.89	0.97414839808571385	0.33845	0.15784	0.19080	N	AEFDBI	0.195519	0.32255	N	-0.793140772280534	0.13488	0.6648029	-0.872054223652638	0.12758	0.6581308	0.0132704450316949	0.12441	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.32	-3.97	0.03821	0.362000	0.20020	-0.877000	0.07079	0.613000	0.49114	0.118000	0.23139	0.000000	0.08366	0.993000	0.69303	0.1689:0.2911:0.3291:0.2109	1.868	0.03007	804	0.43891	CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.000000	0.006793	0.011696	0.050000	0.025862	0.012195	0.018939	0.1	2786.12	88	chr1	11042883	.	G	A	2786.12	.	AC=2;AF=0.1;AN=20;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.66;SOR=0.997	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1206	9	1	0	0
chr1	11046616	11046616	G	A	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon3:c.C352T:p.R118C,MASP2:NM_139208:exon3:c.C352T:p.R118C	MASP2 deficiency, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	861924	not_provided|Immunodeficiency_due_to_MASP-2_deficiency	MedGen:C3661900|MONDO:MONDO:0013423,MedGen:C3151085,OMIM:613791,Orphanet:331187	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.196	0.0203486810133	0.0007	.	0.0005	0	0.0012	0	0	0.0006	0.0011	0.0002	0.0004916	76	154602	rs147270785	0.0006	0.0006	0.0006	0.0006	0.0118	0.0006	0.0005	0.0095	0.0087	0.0002	0.0015	0.0018	5.038e-05	0	0.0118	0.0005	0.0013	0.0003	0.0007	0.0007	0.0006	0.0007	0.0020	0.0006	0.0005	0.0015	0.0013	0.0001	0	0.0020	0.0035	0	0	0.0374	0.0006	0.0009	0	0.017	0.54683	D	0.003	0.76473	D	0.549	0.38101	P	0.143	0.33763	B	0.216603	0.16237	N	0.598136	0.999987	0.54805	D	3.4	0.91674	M	1.53	0.30401	T	-6.08	0.91956	D	0.618	0.63374	-0.8585	0.51370	T	0.113	0.40422	T	10	0.06351003	0.08284	T	0.020349	0.42927	T	0.196	0.47777	.	.	0.395441342475	0.39163	0.5751989370524087	0.57448	0.0493437229553	0.05403	0.239645630121	0.02758	T	0.299704	0.67222	T	-0.377593	0.03226	T	-0.345241	0.39749	T	0.17278274587671	0.18768	T	0.789121	0.61998	T	0.41352314	0.61658	0.36465442	0.61830	0.48186597	0.66014	0.33992428	0.59750	-11.491	0.82283	D	0.8691492522195197	0.93036	0.152	0.63731	B	.;.	.;.	4.714732	0.75784	26.4	0.99729621974057814	0.82690	0.84381	0.43463	D	AEFDGBCI	0.675972	0.64118	D	0.195136265765871	0.50965	3.281694	0.232153287062051	0.51640	3.344804	0.999999998466884	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.232000	0.42663	6.528000	0.55850	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.884000	0.42379	0.0:0.0:0.8237:0.1763	11.777	0.51259	794	0.45591	CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.045455	0.012228	0.017544	0.050000	0.000000	0.000000	0.000000	0.05	709.43	34	chr1	11046616	.	G	A	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.16;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.131;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	9	0	1	0
chr1	11059918	11059918	G	C	exonic	SRM	.	nonsynonymous SNV	SRM:NM_003132:exon1:c.C26G:p.A9G	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.570774644216	.	.	0.0029	0	0	0	0	0.0070	0	0.0007	0.0003493	54	154602	rs771883659	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0005	0	0.0004	0.0277	0	3.639e-05	0	0.0001	0.0024	0.0007	0.0008	0.0008	0.0009	0.0007	0.0008	0.0007	0.0006	0.0003	0.0002	2.427e-05	0	0	0.0273	0.0002	0	0.0034	0.0003	0.0005	0.0008	0.361	0.11882	T	0.211	0.26631	T	0.001	0.07471	B	0.0	0.01387	B	0.295964	0.14683	U	0.549745	1	0.08975	N	0.09	0.08384	N	-0.66	0.72348	T	-0.32	0.12283	N	0.216	0.24135	-1.0227	0.22834	T	0.104	0.38316	T	10	0.0053771436	0.00118	T	0.570775	0.96118	D	0.111	0.31313	0.148	0.05138	0.385882932397	0.38197	0.38256071449414875	0.38171	1.05964391427	0.76440	0.840971112251	0.88242	D	0.092927	0.39106	T	-0.149072	0.28458	T	-0.451908	0.27487	T	0.0109667043835689	0.00158	T	0.668433	0.27736	T	0.07706847	0.17469	0.058053963	0.10660	0.07706847	0.17469	0.058053963	0.10660	-3.255	0.13164	T	.	.	0.090	0.12702	B	.	.	1.464516	0.18873	13.97	0.72158324578202127	0.09876	0.00906	0.03544	N	AEFDGBHCI	0.023152	0.01251	N	-1.2379937409317	0.04460	0.2013432	-1.23890495374957	0.05297	0.2520629	0.999999999485191	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.57	1.42	0.21524	0.133000	0.15736	1.604000	0.27599	-0.455000	0.05132	0.000000	0.06391	0.118000	0.22871	0.002000	0.04165	0.1992:0.0:0.8008:0.0	5.229	0.14734	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002809	0.000000	0.000000	0.003876	0.050000	0.000000	0.003472	0.008065	0.05556	30.17	10	chr1	11059918	.	G	C	30.17	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.792;DP=95;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.77;ReadPosRankSum=-0.319;SOR=0.693	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,388	8	0	1	1
chr1	11087492	11087492	T	C	exonic	EXOSC10	.	nonsynonymous SNV	EXOSC10:NM_001001998:exon9:c.A1045G:p.M349V,EXOSC10:NM_002685:exon9:c.A1045G:p.M349V	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0364904891881	7.7e-05	0.000399361	0.0004	0	8.637e-05	0	0	0.0001	0	0.0027	0.0003752	58	154602	rs146890007	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0002	0.0023	0.0022	0	0	3.826e-05	0	0	0.0010	1.978e-05	0.0003	0.0026	9.854e-05	9.843e-05	5.141e-05	0.0001	0.0017	6.005e-05	4.879e-05	0.0008	0.0006	0	0	0	0	0	9.429e-05	0	8.823e-05	0	0.0017	0.006	0.61437	D	0.016	0.60972	D	0.364	0.38591	B	0.209	0.41528	B	0.000000	0.84330	D	0.147556	1	0.81001	D	0.785	0.19527	N	0.06	0.61798	T	-2.16	0.48850	N	0.712	0.73285	-0.8662	0.50812	T	0.162	0.49748	T	10	0.03906077	0.02369	T	0.03649	0.57022	D	0.230	0.53062	.	.	0.621920094586	0.61885	0.684729131877017	0.68411	0.394715693459	0.40623	0.487404584885	0.37079	T	0.291899	0.66464	T	-0.337369	0.05572	T	-0.26231	0.48592	T	0.0714578982348742	0.08855	T	0.946705	0.79780	D	0.633107	0.74464	0.45901313	0.68571	0.633107	0.74465	0.45901313	0.68571	-10.595	0.77454	D	.	.	0.192	0.41109	B	.;.	.;.	2.879338	0.38101	20.7	0.95734323371532648	0.27679	0.93688	0.58908	D	AEFBI	0.365352	0.45356	N	-0.205138814815498	0.32921	1.862097	-0.0743594696767151	0.36454	2.121688	0.185947040380225	0.17937	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	3.78	0.42629	0.653000	0.24588	3.060000	0.36156	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1068:0.0:0.1509:0.7423	9.385	0.37501	410	0.82135	.;3'-5' exonuclease domain|3'-5' exonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.007576	0.05	1932.43	173	chr1	11087492	.	T	C	1932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.957;DP=482;ExcessHet=0;FS=1.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.565;SOR=0.686	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	11535633	11535633	C	G	exonic	DISP3	.	nonsynonymous SNV	DISP3:NM_020780:exon20:c.C3805G:p.H1269D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0173466592725	.	.	5.062e-05	0	0	0.0007	0	0	0	0	3.88e-05	6	154602	rs374112927	1.233e-05	1.231e-05	1.09e-05	1.377e-05	0.0002	7.71e-06	6.36e-06	8.198e-05	5.784e-05	2.987e-05	0	0	0.0002	0	0	2.699e-06	0	8.121e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0004	8.14e-06	5.14e-06	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0.0002	0.819	0.02966	T	0.089	0.40426	T	0.003	0.11197	B	0.008	0.13708	B	0.021869	0.26746	N	0.378995	0.518726	0.31879	D	.	.	.	-2.58	0.89757	D	-0.99	0.26200	N	0.529	0.55799	-0.5796	0.65633	T	0.197	0.55229	T	10	0.1011188	0.18456	T	0.017347	0.39013	T	0.228	0.52768	0.196	0.10839	0.788021503808	0.78605	0.606082671430857	0.60539	0.508839714498	0.49031	0.416748404503	0.27390	T	0.008949	0.08179	T	-0.260838	0.12801	T	-0.249419	0.49873	T	0.0315953949871641	0.02241	T	0.630737	0.24588	T	0.15307242	0.34715	0.16444102	0.38093	0.15307242	0.34715	0.16444102	0.38092	-5.763	0.44250	T	.	.	0.092	0.13690	B	.	.	1.196751	0.15883	12.17	0.91401666896015865	0.20668	0.93189	0.57558	D	AEFDBI	0.319491	0.42288	N	0.204170273556412	0.51401	3.321639	0.2787462501481	0.54299	3.595423	0.9838027697499	0.30617	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.55	5.55	0.83298	1.859000	0.39058	0.844000	0.22071	0.599000	0.40250	0.915000	0.31815	0.128000	0.22971	0.588000	0.31090	0.0:1.0:0.0:0.0	18.477	0.90746	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	644.43	50	chr1	11535633	.	C	G	644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.892;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.883;SOR=0.549	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	9	0	1	0
chr1	11658775	11658775	G	A	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_183412:exon4:c.G403A:p.V135M,FBXO44:NM_183413:exon4:c.G403A:p.V135M,FBXO44:NM_001304790:exon5:c.G403A:p.V135M,FBXO44:NM_001330355:exon5:c.G499A:p.V167M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0555464066772	.	.	2.492e-05	0	0	0	0	1.515e-05	0	0.0001	1.94e-05	3	154602	rs776387122	1.3e-05	1.3e-05	6.807e-06	1.925e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.541e-05	5.974e-05	0	0	0	0	0.0005	7.195e-06	4.968e-05	3.478e-05	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.138	0.27544	T	0.0	0.92824	D	0.01	0.15535	B	0.033	0.22329	B	0.416321	0.04621	N	1.385230	1	0.81001	D	.	.	.	1.22	0.39223	T	-0.52	0.16187	N	0.364	0.41754	-1.0080	0.27541	T	0.106	0.38685	T	9	0.12956887	0.24653	T	0.055546	0.66274	D	0.059	0.16972	0.593	0.72247	0.506912157699	0.50330	0.18009975076355567	0.17928	.	.	.	.	.	0.011818	0.37157	T	-0.193169	0.21794	T	-0.333723	0.41053	T	0.157886907458305	0.17714	T	0.691931	0.30130	T	.	.	.	.	.	.	.	.	-6.881	0.53158	T	.	.	0.158	0.45714	B	.;.;.;.;.;.	.;.;.;.;.;.	0.827132	0.11988	8.543	0.99526509701278043	0.69591	0.27680	0.23345	N	AEFDBI	0.064987	0.12650	N	-0.390093426793165	0.25820	1.404538	-0.313171141238891	0.27672	1.537213	0.999980831095033	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.01	3.06	0.34374	0.324000	0.19357	2.002000	0.30126	0.640000	0.52149	0.092000	0.22623	1.000000	0.68203	0.997000	0.79791	0.0973:0.1995:0.7032:0.0	8.463	0.32103	878	0.29785	F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain;F-box associated (FBA) domain;F-box associated (FBA) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1228.43	40	chr1	11658775	.	G	A	1228.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.757;DP=434;ExcessHet=0;FS=3.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=1.04;SOR=0.665	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1225	9	0	1	0
chr1	11922898	11922898	G	A	exonic	KIAA2013	.	nonsynonymous SNV	KIAA2013:NM_138346:exon2:c.C1625T:p.T542I	.	426	1088	8	0	0	8	0.003663	.	.	.	2805719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00285916216767	0.0042	0.00179712	0.0041	0.0019	0.0035	0	0.0005	0.0055	0.0014	0.0033	0.0006274	97	154602	rs35073764	0.0062	0.0062	0.0063	0.0061	0.0073	0.0061	0.0060	0.0072	0.0071	0.0010	0.0024	0.0032	2.522e-05	0.0014	0.0016	0.0073	0.0052	0.0033	0.0041	0.0041	0.0042	0.0039	0.0068	0.0038	0.0037	0.0063	0.0061	0.0017	0	0.0033	0.0020	0	0.0008	0	0.0068	0.0038	0.0027	0.348	0.13971	T	0.121	0.36901	T	0.195	0.29512	B	0.065	0.27321	B	0.001268	0.39594	N	0.249272	0.992258	0.41596	D	1.67	0.42885	L	.	.	.	-2.32	0.51478	N	0.182	0.19728	-1.0817	0.07022	T	0.066	0.27364	T	9	0.010512382	0.00233	T	0.002859	0.06015	T	0.070	0.20419	.	.	0.110078149338	0.10416	0.7210633728408705	0.72049	.	.	0.547558784485	0.45513	T	0.010214	0.09245	T	-0.500474	0.00568	T	-0.479996	0.24445	T	0.00781692220711704	0.00092	T	0.863014	0.55864	D	0.04122817	0.06034	0.07634458	0.16900	0.04122817	0.06033	0.07634458	0.16900	-5.409	0.41006	T	.	.	0.075	0.07793	B	.;.;.	.;.;.	2.009693	0.25536	16.80	0.98284403757157512	0.39889	0.94406	0.61064	D	AEFDGBI	0.308772	0.41526	N	-0.245005774461428	0.31302	1.753889	-0.0923052406574394	0.35707	2.069022	0.999998753566587	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	2.94	0.33188	2.892000	0.48323	2.544000	0.33230	0.676000	0.76740	0.999000	0.42656	0.999000	0.35428	0.974000	0.55675	0.2907:0.0:0.7093:0.0	8.609	0.32955	764	0.49969	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001656	0.000000	0.001366	0.000000	0.000000	0.000000	0.003268	0.003968	0.05	593.43	46	chr1	11922898	.	G	A	593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=433;ExcessHet=0;FS=3.997;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.02;MQRankSum=-2.072;QD=12.11;ReadPosRankSum=0.788;SOR=0.491	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1017	9	0	1	0
chr1	11965543	11965543	C	T	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon14:c.C1534T:p.R512C,PLOD1:NM_001316320:exon15:c.C1675T:p.R559C	Ehlers-Danlos syndrome, type VI, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	YES	249375	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_specified|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.414	0.16287966263	0.0038	0.00179712	0.0035	0.0011	0.0004	0	0.0020	0.0049	0.0022	0.0037	0.0034411	532	154602	rs138490756	0.0049	0.0049	0.0049	0.0049	0.0104	0.0048	0.0048	0.0083	0.0075	0.0004	0.0008	0.0021	0	0.0028	0.0104	0.0057	0.0042	0.0035	0.0032	0.0032	0.0036	0.0028	0.0057	0.0030	0.0029	0.0052	0.0051	0.0009	0	0.0016	0.0023	0	0.0010	0.0136	0.0057	0.0024	0.0023	0.002	0.72154	D	0.009	0.66756	D	0.941	0.52883	P	0.2	0.36839	B	0.000021	0.62929	D	0.120996	0.904707	0.36258	D	0.345	0.11182	N	-1.94	0.84919	D	-3.03	0.62747	D	0.428	0.46742	-0.2701	0.75809	T	0.262	0.63274	T	10	0.013092965	0.00279	T	0.16288	0.84235	D	0.414	0.72479	.	.	0.855875980841	0.85448	0.6379520951430856	0.63729	0.41680062442	0.42316	0.247563481331	0.03515	T	0.40173	0.75895	T	-0.275741	0.11125	T	-0.165133	0.57887	T	0.0297979050361403	0.01959	T	0.943606	0.78679	D	0.25848582	0.48897	0.16500653	0.38195	0.31826228	0.54493	0.18967345	0.42326	-9.771	0.72528	D	0.12475964414831875	0.12295	0.150	0.33203	B	.	.	4.031260	0.59609	24.1	0.99820706349951294	0.90326	0.92078	0.54896	D	AEFDBI	0.778706	0.71113	D	-0.230338253826705	0.31894	1.793081	-0.167573237743813	0.32738	1.865516	0.999720114543042	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	4.64	0.57399	0.357000	0.19935	3.919000	0.40458	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.966000	0.53164	0.1487:0.7081:0.1431:0.0	10.681	0.45009	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.010101	0.004076	0.011696	0.000000	0.008621	0.009146	0.015152	0.1	2647.14	33	chr1	11965543	.	C	T	2647.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.959;DP=539;ExcessHet=0.2348;FS=4.902;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=1.36;SOR=0.525	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1341,0,1465	8	0	2	0
chr1	12192919	12192919	C	T	exonic	TNFRSF1B	.	nonsynonymous SNV	TNFRSF1B:NM_001066:exon6:c.C608T:p.T203M	.	401	1120	1	0	0	1	0.000446229	.	.	.	745626	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.048	.	.	0.00299521	0.0014	0.0002	0	0	0	4.509e-05	0.0034	0.0100	0.0013195	204	154602	rs199873050	0.0007	0.0007	0.0004	0.0009	0.0101	0.0006	0.0006	0.0095	0.0093	2.987e-05	0	0	0	1.872e-05	0.0005	3.867e-05	0.0009	0.0101	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0004	0.0108	0.0099	2.406e-05	0	0	0	0	0	0	8.821e-05	0	0.0135	0.093	0.31532	T	0.075	0.42794	T	0.007	0.14184	B	0.0	0.01387	B	0.018674	0.01493	N	2.957910	1	0.08975	N	-0.405	0.02972	N	0.09	0.61443	T	-0.69	0.19720	N	0.067	0.03956	-1.0447	0.15913	T	0.094	0.35551	T	10	0.00282982	0.00045	T	.	.	.	0.048	0.13305	.	.	0.256237801699	0.25221	0.2695497805406635	0.26867	0.355834757723	0.37339	0.235359013081	0.02388	T	0.19761	0.55434	T	-0.593386	0.00160	T	-0.617172	0.11408	T	0.0218442776435811	0.00891	T	0.721828	0.33531	T	0.011809976	0.00022	0.018025585	0.00044	0.011809976	0.00022	0.018025585	0.00044	-5.897	0.45410	T	.	.	0.082	0.08657	B	.	.	-0.449535	0.02034	0.183	0.74689593838083845	0.10790	0.00858	0.03416	N	AEFDBCI	0.034916	0.04408	N	-1.87299147603569	0.00390	0.0167638	-1.99493524311157	0.00314	0.01386005	0.999999956970772	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	-8.18	0.00926	-1.108000	0.03423	-0.986000	0.06696	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3593:0.3427:0.1158:0.1822	1.721	0.02736	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1496.43	45	chr1	12192919	.	C	T	1496.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.162;DP=465;ExcessHet=0;FS=3.314;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.53;SOR=1.038	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr1	12719510	12719510	G	A	exonic	AADACL3	.	nonsynonymous SNV	AADACL3:NM_001103170:exon2:c.G204A:p.M68I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0018106224928	.	.	3.312e-05	0	8.639e-05	0	0	4.495e-05	0	0	2.59e-05	4	154602	rs752123416	1.505e-05	1.505e-05	9.529e-06	2.063e-05	6.708e-05	9.85e-06	8.41e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	1.619e-05	1.656e-05	0	1.972e-05	1.97e-05	3.854e-05	0	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0.0005	0	0.406	0.10278	T	0.244	0.24123	T	.	.	.	.	.	.	0.304278	0.14544	N	0.689342	1	0.26026	N	.	.	.	2.92	0.09915	T	0.31	0.04022	N	0.274	0.31027	-0.9785	0.35345	T	0.018	0.07282	T	10	0.07839283	0.12488	T	0.001811	0.03115	T	0.034	0.08419	.	.	0.0138822411134	0.00435	0.47112931543939807	0.47031	0.148599470871	0.16762	0.312906146049	0.12346	T	8.6E-4	0.00434	T	-0.362451	0.03994	T	-0.650755	0.08901	T	0.0573030748990795	0.06737	T	0.69513	0.30474	T	0.116775416	0.27538	0.15643778	0.36626	0.116775416	0.27538	0.15643778	0.36626	-2.709	0.07379	T	.	.	0.378	0.58281	A	.	.	1.305584	0.17078	12.95	0.7636709354020188	0.11439	0.02602	0.07171	N	AEFDGBI	0.039777	0.05824	N	-0.744850581974925	0.14774	0.7387975	-0.791298594419147	0.14709	0.7699246	0.78725971503083	0.23952	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.44	3.48	0.38946	0.341000	0.19652	1.847000	0.29229	0.618000	0.50648	0.000000	0.06391	0.007000	0.19602	0.020000	0.11549	0.1681:0.0:0.8319:0.0	6.113	0.19331	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	959.43	35	chr1	12719510	.	G	A	959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.278;DP=433;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-1.222;SOR=0.874	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1400	9	0	1	0
chr1	12775958	12775958	C	A	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon2:c.C703A:p.L235I	.	431	1054	34	3	0	40	0.018622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0051	0.00499201	0.0060	0.0009	0.0045	0	0.0027	0.0075	0.0121	0.0082	0.0060349	933	154602	rs41303871	0.0083	0.0083	0.0083	0.0082	0.0158	0.0081	0.0081	0.0132	0.0122	0.0017	0.0048	0.0090	0	0.0034	0.0158	0.0090	0.0099	0.0088	0.0057	0.0057	0.0056	0.0058	0.0082	0.0054	0.0052	0.0076	0.0074	0.0016	0.0077	0.0082	0.0069	0.0002	0.0025	0.0204	0.0082	0.0066	0.0070	0.036	0.43393	D	0.036	0.52060	D	0.999	0.77913	D	0.998	0.88582	D	0.000273	0.46590	N	0.082849	1	0.08975	N	2.03	0.55503	M	3.92	0.03462	T	-1.63	0.39119	N	0.23	0.25867	-1.1314	0.01716	T	0.025	0.10553	T	10	0.0053751767	0.00118	T	.	.	.	0.053	0.14996	.	.	0.0884992946249	0.08302	0.37467456635632174	0.37381	0.224872128122	0.25025	0.391530036926	0.23885	T	0.041935	0.26020	T	-0.608715	0.00129	T	-0.639191	0.09727	T	0.0395617015165777	0.03612	T	0.561944	0.19701	T	0.035705116	0.04255	0.04293953	0.05231	0.035705116	0.04254	0.04293953	0.05230	-8.2	0.62425	D	.	.	0.120	0.24867	B	.	.	1.160230	0.15492	11.89	0.99267040497916514	0.57423	0.04144	0.09629	N	AEFBI	0.015681	0.00311	N	-0.21301176613444	0.32600	1.840198	-0.503277344472376	0.22064	1.196575	1.9053426631002E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.54	1.59	0.22622	-0.408000	0.07232	-20.000000	0.00162	-0.299000	0.06208	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2772:0.7228:0.0:0.0	6.734	0.22587	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.010101	0.004076	0.002924	0.050000	0.000000	0.030488	0.011364	0.05	5512.43	43	chr1	12775958	.	C	A	5512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.074;DP=856;ExcessHet=0;FS=1.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=2.48;SOR=0.805	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1067	9	0	1	0
chr1	12777268	12777268	G	A	exonic	PRAMEF12	.	nonsynonymous SNV	PRAMEF12:NM_001080830:exon3:c.G1121A:p.R374H	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0002	0.00778754	0.0036	9.61e-05	0.0002	0.0001	0	0.0002	0.0011	0.0253	0.0031953	494	154602	rs200147207	0.0015	0.0015	0.0009	0.0022	0.0225	0.0015	0.0014	0.0217	0.0214	2.992e-05	0.0001	0	2.519e-05	0	0.0007	0.0001	0.0019	0.0225	0.0008	0.0009	0.0006	0.0011	0.0234	0.0007	0.0007	0.0199	0.0186	4.814e-05	0	0.0001	0	0.0002	0	0.0034	0.0001	0.0005	0.0234	0.566	0.06262	T	0.401	0.14961	T	0.37	0.34076	B	0.059	0.26602	B	0.678136	0.06076	N	1.164400	0.999688	0.20694	N	0.865	0.21413	L	2.97	0.09450	T	-1.57	0.37955	N	0.022	0.00372	-0.9753	0.36059	T	0.015	0.05946	T	10	0.008863747	0.00201	T	.	.	.	0.060	0.17295	.	.	0.0920862733494	0.08535	0.1834787494898176	0.18266	0.0334400944667	0.03497	0.207179114223	0.00697	T	0.003979	0.03393	T	-0.77426	0.00012	T	-0.866694	0.00774	T	0.0104976695965112	0.00145	T	0.608239	0.22965	T	0.025568908	0.01510	0.049385864	0.07536	0.025568908	0.01510	0.049385864	0.07535	-4.995	0.36786	T	.	.	0.085	0.10062	B	.	.	0.320703	0.06954	3.500	0.80431122992526194	0.13200	0.01878	0.05780	N	AEFBI	0.021757	0.01005	N	-1.20391572644976	0.04942	0.2241708	-1.32423841560855	0.04119	0.1936109	4.2027368328228E-4	0.06899	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.72	-5.07	0.02717	-1.075000	0.03534	-20.000000	0.00162	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.171000	0.21011	0.2543:0.0:0.7457:0.0	10.483	0.43889	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002591	0.000000	0.001362	0.006536	0.000000	0.008772	0.000000	0.003788	0.05	2920.43	33	chr1	12777268	.	G	A	2920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=554;ExcessHet=0;FS=3.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.72;MQRankSum=-1.041;QD=12.48;ReadPosRankSum=-2.676;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1352	9	0	1	0
chr1	12794282	12794282	C	T	exonic	PRAMEF1	.	nonsynonymous SNV	PRAMEF1:NM_023013:exon3:c.C655T:p.R219C	.	433	1081	8	0	0	8	0.00368664	.	.	.	2216210	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00142032359998	0.0007	0.000399361	0.0010	0	0.0011	0	0.0002	0.0012	0.0011	0.0012	0.0008215	127	154602	rs147357536	0.0006	0.0006	0.0005	0.0006	0.0023	0.0005	0.0005	0.0013	0.0011	0.0001	0.0011	0.0045	0	0.0002	0.0023	0.0004	0.0010	0.0011	0.0007	0.0007	0.0006	0.0008	0.0016	0.0006	0.0005	0.0011	0.0010	9.672e-05	0	0.0016	0.0023	0.0002	0.0003	0	0.0007	0.0024	0.0013	0.12	0.27904	T	0.143	0.33219	T	0.0	0.02946	B	0.001	0.04355	B	0.886547	0.07268	N	1.066740	1	0.08975	N	0.035	0.08059	N	2.51	0.14284	T	0.02	0.06739	N	0.162	0.17002	-0.9756	0.35993	T	0.015	0.06186	T	10	0.0075188577	0.00171	T	0.00142	0.02113	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.14337731810921603	0.14260	0.487149320431	0.47551	0.458294987679	0.33076	T	0.001683	0.01111	T	-0.615115	0.00118	T	-0.706787	0.05463	T	0.00928990431519865	0.00118	T	0.465553	0.13627	T	0.05810497	0.11648	0.025298804	0.00570	0.05810497	0.11648	0.025298804	0.00570	-4.384	0.29339	T	.	.	0.113	0.22428	B	.	.	0.373282	0.07453	4.091	0.69434120243652719	0.08971	0.00060	0.00440	N	AEFI	0.028737	0.02587	N	-1.6758509236672	0.00931	0.04031063	-1.77805332114332	0.00832	0.0371597	3.42563002971451E-4	0.06626	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.61	-3.22	0.04808	-2.432000	0.01099	-20.000000	0.00162	-0.402000	0.05293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.373:0.4558:0.0:0.1713	3.863	0.08512	888	0.27761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004217	0.000000	0.005479	0.004425	0.000000	0.000000	0.011538	0.000000	0.05	4752.43	34	chr1	12794282	.	C	T	4752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=875;ExcessHet=0;FS=0.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.29;MQRankSum=1.96;QD=19.88;ReadPosRankSum=0.398;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1244:.	9	0	1	0
chr1	12825478	12825478	G	-	exonic	PRAMEF11	.	frameshift deletion	PRAMEF11:NM_001146344:exon4:c.901delC:p.L301Sfs*3	.	622	878	18	4	0	26	0.0145903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.00139776	0.0019	0.0002	0.0012	0	0.0006	0.0014	0.0042	0.0066	0.0014165	219	154602	rs368447714	0.0089	0.0090	0.0085	0.0093	0.0193	0.0087	0.0086	0.0184	0.0181	0.0016	0.0048	0.0078	5.752e-05	0.0035	0.0140	0.0090	0.0094	0.0193	0.0059	0.0063	0.0058	0.0061	0.0136	0.0056	0.0054	0.0105	0.0094	0.0014	0.0070	0.0065	0.0047	0	0.0032	0.0216	0.0088	0.0066	0.0136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007618	0.000000	0.004412	0.005102	0.000000	0.000000	0.014151	0.019048	0.05	105.46	22	chr1	12825477	.	AG	A	105.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.168;DP=118;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0589;MLEAC=1;MLEAF=0.05;MQ=30.71;MQRankSum=1.17;QD=9.59;ReadPosRankSum=-0.269;SOR=1.981	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,205	9	0	1	0
chr1	12938786	12938786	C	G	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.G1320C:p.K440N	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00108135829455	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201371022	0.0030	0.0054	0.0030	0.0029	0.0167	0.0029	0.0029	0.0156	0.0152	0.0070	0.0026	0.0133	0.0167	0.0016	0.0039	0.0023	0.0045	0.0011	0.0067	0.0083	0.0067	0.0067	0.0118	0.0064	0.0062	0.0109	0.0106	0.0118	0.0011	0.0066	0.0184	0.0044	0.0016	0.0104	0.0044	0.0082	0.0010	0.278	0.15613	T	0.422	0.14034	T	0.001	0.07471	B	0.004	0.10090	B	0.006114	0.01110	N	2.795530	1	0.08975	N	0.12	0.08593	N	0.83	0.47815	T	-1.16	0.29727	N	0.058	0.02964	-1.0596	0.11855	T	0.063	0.26279	T	10	0.007505417	0.00171	T	0.001081	0.01263	T	0.014	0.01968	0.387	0.40788	0.168254554758	0.16434	0.16781203573539377	0.16701	1.86067590862	0.92401	0.599129319191	0.52781	T	0.021	0.16311	T	-0.306579	0.08053	T	-0.678156	0.07096	T	0.00917191634474916	0.00116	T	.	.	.	0.09016989	0.21090	0.055151075	0.09622	0.09016989	0.21090	0.055151075	0.09621	-3.708	0.19437	T	.	.	0.130	0.29032	B	.;.	.;.	1.238247	0.16335	12.47	0.51106505301877214	0.04503	0.00735	0.03077	N	AEFI	0.032337	0.03632	N	-1.26143505230018	0.04151	0.1867814	-1.33491573488619	0.03986	0.1871159	1.09695376457081E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.994	-0.0658	0.13099	0.113000	0.15333	0.515000	0.19114	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6989:0.0:0.3011	3.475	0.07146	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2285.43	334	chr1	12938786	.	C	G	2285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.82;DP=2282;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.59;MQRankSum=-9.106;QD=10.16;ReadPosRankSum=1.51;SOR=0.725	GT:AD:DP:GQ:PL	0/1:116,109:225:99:2297,0,2425	9	0	1	0
chr1	12938972	12938972	A	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.T1134G:p.F378L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00106011888108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337300112	4.806e-06	8.894e-06	4.098e-06	5.522e-06	3e-05	2e-06	1.29e-06	1.32e-06	9.6e-07	3e-05	2.239e-05	0	0	0	0	4.507e-06	0	0	8.046e-06	1.334e-05	0	1.684e-05	1.675e-05	0	0	.	.	0	0	0	0	0	0	0	1.675e-05	0	0	0.094	0.31383	T	0.082	0.41573	T	0.015	0.17086	B	0.013	0.16460	B	0.312866	0.04026	N	1.401010	1	0.08975	N	1.91	0.51138	L	2.96	0.09542	T	-1.48	0.36189	N	0.063	0.03502	-0.9693	0.37345	T	0.026	0.11087	T	10	0.07533723	0.11631	T	0.00106	0.01215	T	0.032	0.07718	0.523	0.62668	0.043077524339	0.03247	0.19330155951732303	0.19248	1.89015088632	0.92711	0.584409832954	0.50706	T	0.025425	0.19015	T	-0.316671	0.07173	T	-0.692653	0.06236	T	0.0691271490831012	0.08528	T	.	.	.	0.048607264	0.08499	0.054022886	0.09212	0.048607264	0.08499	0.054022886	0.09211	-4.444	0.30149	T	.	.	0.543	0.66545	A	.;.	.;.	0.452162	0.08223	4.961	0.61700293490179847	0.06775	0.00398	0.01994	N	AEFI	0.035155	0.04478	N	-1.31770530023901	0.03472	0.1551741	-1.46120041433153	0.02670	0.123245	2.66272681662374E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-2.25	0.06498	-0.052000	0.11821	-4.945000	0.01915	-1.628000	0.00857	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.6745:0.0:0.3255:0.0	5.407	0.15628	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	459.43	38	chr1	12938972	.	A	C	459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.91;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.93;MQRankSum=0.674;QD=6.13;ReadPosRankSum=-0.175;SOR=0.167	GT:AD:DP:GQ:PL	0/0:35,0:35:93:0,93,1395	9	0	1	0
chr1	13050005	13050005	C	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.G1240C:p.V414L	.	578	941	3	0	0	3	0.00159151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0019	0.0026	0.0006	0.0028	0.0024	0.0018	0.0011	0.0023	.	.	.	rs1172125965	0.0015	0.0016	0.0014	0.0015	0.0016	0.0014	0.0014	0.0015	0.0014	0.0005	0.0006	0.0034	0.0003	0.0030	0.0016	0.0015	0.0012	0.0005	0.0014	0.0016	0.0011	0.0018	0.0018	0.0013	0.0012	0.0015	0.0014	0.0004	0	0.0004	0.0020	0	0.0028	0	0.0018	0.0021	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.036	0.01068	-0.9978	0.30535	T	0.040	0.17319	T	6	0.00902909	0.00204	T	.	.	.	0.038	0.09825	.	.	0.0297737177859	0.01360	0.20685637496852285	0.20601	.	.	.	.	.	0.003273	0.02677	T	-0.420336	0.01702	T	-0.84156	0.01075	T	0.0110927352757226	0.00161	T	.	.	.	0.022523431	0.00921	0.07911498	0.17781	0.022523431	0.00921	0.07911498	0.17781	-1.397	0.01566	T	.	.	0.112	0.21803	B	.	.	-0.601861	0.01567	0.104	0.43564656289561676	0.03289	0.00011	0.00159	N	AEFI	0.013522	0.00183	N	-1.38013973261158	0.02824	0.1252796	-1.58527372343863	0.01745	0.07937364	2.60854475567407E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.45	-1.44	0.08391	-0.771000	0.04805	-20.000000	0.00162	-0.675000	0.04277	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.0:0.7345:0.2655:0.0	10.081	0.41561	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3401.08	34	chr1	13050005	.	C	G	3401.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.01;DP=464;ExcessHet=0;FS=1.865;MLEAC=1;MLEAF=0.056;MQ=43.26;MQRankSum=-1.389;QD=18.89;ReadPosRankSum=-0.56;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	8	0	1	1
chr1	13050011	13050011	C	G	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon4:c.G1234C:p.V412L	.	567	952	3	0	0	3	0.00157315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00459265	0.0017	0.0010	0.0027	0.0017	0.0024	0.0016	0.0011	0.0021	0.0015912	246	154602	rs1174089374	0.0013	0.0014	0.0013	0.0014	0.0014	0.0013	0.0012	0.0013	0.0013	0.0004	0.0005	0.0033	0.0002	0.0030	0.0013	0.0014	0.0010	0.0003	0.0014	0.0016	0.0012	0.0017	0.0018	0.0012	0.0011	0.0015	0.0014	0.0002	0	0.0005	0.0020	0	0.0027	0	0.0018	0.0021	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.427749	0.04686	N	1.380310	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	-0.9908	0.32398	T	0.008	0.02884	T	10	0.0035225153	0.00063	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.18084801369215397	0.18003	.	.	.	.	.	0.003864	0.03272	T	-0.437852	0.01331	T	-0.866721	0.00774	T	0.000999426185227816	0.00010	T	.	.	.	0.023184275	0.01037	0.03157109	0.01765	0.023184275	0.01037	0.03157109	0.01765	-0.296	0.00472	T	.	.	0.093	0.14015	B	.	.	-1.022594	0.00739	0.023	0.081090229478680872	0.00057	0.00008	0.00134	N	AEFI	0.013186	0.00167	N	-1.98012272325946	0.00233	0.01000589	-2.00490364129989	0.00299	0.01320684	4.21787938253239E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-2.41	0.06184	-0.544000	0.06166	-20.000000	0.00162	-0.675000	0.04277	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.4045:0.2585:0.337:0.0	2.722	0.04881	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	3295.08	34	chr1	13050011	.	C	G	3295.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.75;DP=450;ExcessHet=0;FS=2.689;MLEAC=1;MLEAF=0.056;MQ=41.61;MQRankSum=-1.979;QD=18.94;ReadPosRankSum=-0.141;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	8	0	1	1
chr1	13053644	13053644	G	A	exonic	PRAMEF27	.	nonsynonymous SNV	PRAMEF27:NM_001300891:exon2:c.C16T:p.R6W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349608012	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0002	7.666e-05	0.0001	0.0012	0	0.0001	0.0003	0.0002	0.0004	0.0018	0.0003	0.0005	0.0004	0.0003	0.0003	0.0002	0.0002	0.0004	0	0.0001	0.0003	0	0.0018	0	0.0003	0	0	.	.	.	0.223	0.25670	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.14763	.	.	.	.	.	.	.	0.09002277	0.15645	T	.	.	.	.	.	.	.	.	.	0.2499019846622074	0.24904	.	.	.	.	.	0.022696	0.17455	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.18	0.47761	T	.	.	0.115	0.23041	B	.	.	0.507142	0.08762	5.537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.344000	0.01178	-20.000000	0.00162	-1.642000	0.00838	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1288.43	76	chr1	13053644	.	G	A	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.93;DP=618;ExcessHet=0;FS=5.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.35;MQRankSum=4.85;QD=14.48;ReadPosRankSum=-1.382;SOR=1.144	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr1	13061428	13061428	C	T	exonic	HNRNPCL3;HNRNPCL4	.	nonsynonymous SNV	HNRNPCL4:NM_001302551:exon1:c.C104T:p.A35V,HNRNPCL3:NM_001382358:exon2:c.C104T:p.A35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320838661	9.564e-06	8.492e-06	9.711e-06	9.422e-06	0.0001	4.11e-06	2.97e-06	4.467e-05	2.665e-05	4.723e-05	0.0001	0	0	0	0	1.677e-06	2.58e-05	1.678e-05	3.352e-05	2.039e-05	2.105e-05	4.765e-05	0.0001	8.91e-06	4.47e-06	1.525e-05	6.33e-06	8.618e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.20129	.	.	.	.	.	.	.	0.14019543	0.26651	T	.	.	.	.	.	.	.	.	.	0.16039158267001244	0.15960	.	.	.	.	.	0.030809	0.21752	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.454	0.70572	D	.	.	0.177	0.38587	B	.	.	1.341451	0.17480	13.19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.971000	0.56538	0.537000	0.19299	-1.675000	0.00794	1.000000	0.71638	0.065000	0.22112	0.011000	0.09372	.	.	.	.	.	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	108.44	19	chr1	13061428	.	C	T	108.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.294;DP=189;ExcessHet=0;FS=0;InbreedingCoeff=-0.0536;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=8.34;ReadPosRankSum=-1.001;SOR=0.368	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,201	9	0	1	0
chr1	13318598	13318598	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G191A:p.R64H	.	405	1091	26	0	0	26	0.0117754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0369774697323	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472959485	0.0003	0.0067	0.0003	0.0003	0.0013	0.0003	0.0003	0.0007	0.0006	0.0005	0.0002	0.0002	0.0009	9.573e-05	0.0013	0.0003	0.0003	0.0005	0.0003	0.0025	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0035	6.657e-05	0	0.0006	0.0002	0	0.0002	0.0005	0.0004	0.525	0.07140	T	0.575	0.08654	T	.	.	.	.	.	.	0.074092	0.02283	N	1.881130	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.55	0.16799	N	0.044	0.01658	-1.0293	0.20681	T	0.015	0.05946	T	8	0.023069829	0.00593	T	0.001222	0.01608	T	.	.	.	.	0.0297737177859	0.01360	0.23243132047722803	0.23158	.	.	0.456076145172	0.32774	T	.	.	.	-0.42041	0.01700	T	-0.841667	0.01074	T	0.0221624638565028	0.00927	T	0.152485	0.01303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	-0.306877	0.02587	0.318	0.3247514774469345	0.01884	0.00112	0.00708	N	AEFI	0.021848	0.01021	N	-1.54749839839041	0.01549	0.06767291	-1.73690248014379	0.00983	0.04406507	1.1847666085279E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	-2.29	0.06419	-0.600000	0.05789	-8.133000	0.01022	-3.802000	0.00059	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2401:0.3173:0.2441:0.1984	0.434	0.00444	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	721.37	76	chr1	13318598	.	G	A	721.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.761;DP=1190;ExcessHet=0.2348;FS=10.425;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=38.24;MQRankSum=-2.061;QD=2.05;ReadPosRankSum=-1.739;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,24:173:99:0|1:13318598_G_A:531,0,6097:13318598	7	0	2	1
chr1	13318601	13318601	G	A	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon2:c.G194A:p.R65H	.	406	1103	13	0	0	13	0.00585849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0336539354214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416469108	5.572e-05	0.0019	5.475e-05	5.67e-05	0.0009	4.569e-05	4.179e-05	0.0003	0.0002	8.969e-05	2.244e-05	0.0004	2.52e-05	1.877e-05	0.0009	3.437e-05	8.326e-05	0.0002	0.0001	0.0007	0.0002	0.0001	0.0006	9.796e-05	8.303e-05	0.0002	9.119e-05	9.639e-05	0	6.588e-05	0.0003	0	9.445e-05	0	0.0002	0.0005	0.0006	0.204	0.20078	T	0.542	0.09690	T	.	.	.	.	.	.	0.212854	0.03399	N	1.582610	1	0.08975	N	.	.	.	2.79	0.11189	T	-2.67	0.57110	D	0.089	0.06720	-0.9832	0.34258	T	0.043	0.18576	T	8	0.088977695	0.15370	T	0.001103	0.01312	T	.	.	.	.	0.0297737177859	0.01360	0.23248738235852817	0.23163	.	.	0.376942545176	0.21821	T	.	.	.	-0.398143	0.02381	T	-0.809682	0.01672	T	0.115081892617503	0.13942	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.	.	0.481113	0.08503	5.267	0.62407952715295867	0.06955	0.00427	0.02100	N	AEFI	0.022775	0.01181	N	-1.00019295008573	0.08600	0.4038423	-1.23786836837196	0.05313	0.2528468	1.09865888659562E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.15	0.144	0.14120	-0.846000	0.04444	-10.921000	0.00652	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2396:0.0:0.7604:0.0	4.502	0.11278	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	686.14	76	chr1	13318601	.	G	A	686.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.38;DP=802;ExcessHet=0.2348;FS=20.9;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=37.62;MQRankSum=-1.868;QD=1.98;ReadPosRankSum=-0.891;SOR=2.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,23:170:99:0|1:13318598_G_A:516,0,6054:13318598	8	0	2	0
chr1	13319432	13319432	G	A	exonic	PRAMEF15	.	stopgain	PRAMEF15:NM_001098376:exon3:c.G354A:p.W118X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.128e-06	3.48e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.48e-05	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.204723	0.16511	N	0.581015	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190343	0.72995	D	0.0356387	0.72643	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.073614	0.84639	28.4	0.98712358638582343	0.45069	0.08418	0.14350	N	AEFI	0.031504	0.03385	N	0.0590469868693664	0.44559	2.727795	-0.312800179286453	0.27684	1.537978	2.61952491240133E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	1.27	0.20595	1.928000	0.39734	-0.015000	0.13005	0.462000	0.21616	0.108000	0.22953	0.000000	0.08366	0.020000	0.11549	0.0:0.0:1.0:0.0	5.995	0.18716	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3455.43	42	chr1	13319432	.	G	A	3455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.011;DP=1075;ExcessHet=0;FS=4.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.41;MQRankSum=3.47;QD=6.75;ReadPosRankSum=1.91;SOR=0.419	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	9	0	1	0
chr1	13319687	13319687	G	C	exonic	PRAMEF15	.	nonsynonymous SNV	PRAMEF15:NM_001098376:exon3:c.G609C:p.M203I	.	437	1075	10	0	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0384152872209	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302031297	0.0002	0.0015	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0002	0.0003	0.0002	1.17e-05	0.0004	0.0019	0.0003	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0006	0	0.0007	0.0006	0	9.441e-05	0	0.0003	0.0010	0	0.33	0.13131	T	0.585	0.08361	T	.	.	.	.	.	.	0.987370	0.07880	N	1.005810	1	0.08975	N	.	.	.	2.52	0.14160	T	-2.36	0.52128	N	0.138	0.13626	-0.9810	0.34771	T	0.015	0.06282	T	8	0.10538337	0.19475	T	0.001031	0.01144	T	.	.	.	.	0.0551355673512	0.04727	0.23732904396824145	0.23647	.	.	0.71321284771	0.69058	T	.	.	.	-0.372901	0.03450	T	-0.773423	0.02657	T	0.0669887070056035	0.08222	T	0.036263	0.00250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.50925	B	.	.	-0.807251	0.01093	0.049	0.64522148943575663	0.07517	0.00394	0.01977	N	AEFI	0.021015	0.00891	N	-0.905705559726531	0.10708	0.5130102	-1.03680153140756	0.08984	0.4445248	3.21394511381033E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.44	1.44	0.21647	-2.267000	0.01252	-14.129000	0.00420	-1.280000	0.01269	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	6.382	0.20743	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	435.43	42	chr1	13319687	.	G	C	435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-8.35;DP=697;ExcessHet=0;FS=58.4;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.06;MQRankSum=3.61;QD=2.96;ReadPosRankSum=-0.429;SOR=6.171	GT:AD:DP:GQ:PL	0/1:119,28:147:99:447,0,3376	9	0	1	0
chr1	13345161	13345161	G	C	exonic	PRAMEF14	.	nonsynonymous SNV	PRAMEF14:NM_001024661:exon2:c.C154G:p.L52V	.	448	1050	24	0	0	24	0.0112994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00122823695766	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4083405	0.0065	0.0097	0.0062	0.0068	0.0101	0.0064	0.0064	0.0096	0.0094	0.0017	0.0019	0.0034	0.0010	0.0209	0.0078	0.0061	0.0069	0.0101	0.0086	0.0090	0.0082	0.0091	0.0128	0.0083	0.0081	0.0114	0.0111	0.0023	0	0.0030	0.0055	0.0030	0.0226	0.0069	0.0121	0.0062	0.0128	0.027	0.46513	D	0.04	0.50809	D	.	.	.	.	.	.	0.003069	0.35480	N	0.187155	0.999829	0.20203	N	.	.	.	2.34	0.16351	T	-2.62	0.56301	D	0.314	0.35408	-1.1271	0.01926	T	0.085	0.33014	T	10	0.013097256	0.00279	T	0.002789	0.05810	T	0.060	0.17295	.	.	0.151262610727	0.14761	0.351644659497815	0.35078	3.38724322197	0.99691	.	.	.	.	.	.	-0.235238	0.15962	T	-0.575679	0.14933	T	0.56700986623764	0.35120	D	0.610839	0.23175	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.25592	B	.	.	1.240337	0.16358	12.49	0.99596510723236842	0.73925	0.03915	0.09299	N	AEFI	0.037934	0.05291	N	-0.134736818385502	0.35886	2.06705	-0.392184949578586	0.25228	1.386172	4.36143937790654E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.69	1.69	0.23290	1.543000	0.35754	-1.448000	0.05416	0.478000	0.22058	0.023000	0.19925	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.888	0.23393	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	791.14	38	chr1	13345161	.	G	C	791.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.74;DP=370;ExcessHet=0.2348;FS=12.214;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=34.06;MQRankSum=-2.752;QD=8.33;ReadPosRankSum=1.74;SOR=2.276	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,983	8	0	2	0
chr1	13389787	13389787	T	G	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.T130G:p.S44A	.	424	1086	11	0	1	12	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00108201928901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878978459	3.861e-05	0.0031	4.116e-05	3.604e-05	0.0002	3.05e-05	2.741e-05	8.897e-05	6.453e-05	0	0.0002	0	0	0	0.0002	3.81e-05	3.335e-05	3.49e-05	3.291e-05	0.0004	6.441e-05	0	6.554e-05	1.262e-05	7.99e-06	1.174e-05	6.26e-06	2.409e-05	0	6.554e-05	0	0	0	0	4.424e-05	0	0	0.015	0.52492	D	0.01	0.65728	D	0.002	0.09854	B	0.007	0.12992	B	0.014965	0.28378	N	0.352416	1	0.08975	N	0.345	0.11182	N	3.64	0.04309	T	0.05	0.06369	N	0.265	0.30004	-0.9651	0.38191	T	0.009	0.03183	T	10	0.2735368	0.44903	T	0.001143	0.01410	T	0.038	0.09825	0.786	0.90919	0.043077524339	0.03247	0.34463560231599055	0.34376	1.59320647565	0.88566	0.657632708549	0.61071	T	0.006265	0.05696	T	-0.278162	0.10863	T	-0.637337	0.09864	T	0.121334537863731	0.14559	T	0.394561	0.09893	T	0.11320514	0.26739	0.08482383	0.19541	0.11320514	0.26738	0.08482383	0.19541	-4.361	0.29023	T	.	.	0.087	0.11414	B	.	.	1.101370	0.14855	11.39	0.909885272771082	0.20238	0.00553	0.02530	N	AEFI	0.021247	0.00925	N	-1.02090303051333	0.08170	0.3821699	-1.10666643224229	0.07572	0.3688448	4.81103890285E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	1.09	0.19517	0.599000	0.23788	-1.771000	0.04756	0.493000	0.22426	0.010000	0.18352	0.000000	0.08366	0.024000	0.12247	0.0:0.0:0.0:1.0	4.427	0.10936	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	446.43	36	chr1	13389787	.	T	G	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.854;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.39;MQRankSum=-11.05;QD=3.38;ReadPosRankSum=1.97;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1064:.	9	0	1	0
chr1	13389788	13389788	C	T	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.C131T:p.S44F	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00139010948268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879250620	4.206e-05	0.0031	4.391e-05	4.019e-05	0.0002	3.337e-05	3.025e-05	8.898e-05	6.454e-05	0	0.0002	0	0	0	0	3.901e-05	5.002e-05	8.143e-05	5.269e-05	0.0004	9.021e-05	1.347e-05	0.0001	2.562e-05	1.834e-05	2.268e-05	1.128e-05	2.41e-05	0	0.0001	0	0	0	0	5.9e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.014965	0.28378	N	0.352416	1	0.08975	N	-3.265	0.00006	N	3.81	0.03754	T	7.05	0.00003	N	0.261	0.29544	-0.9337	0.43590	T	0.002	0.00585	T	10	0.12454003	0.23656	T	0.00139	0.02037	T	0.104	0.29647	0.766	0.89373	0.043077524339	0.03247	0.3694231751582216	0.36856	1.94698254813	0.93348	0.654295921326	0.60596	T	0.00516	0.04603	T	-0.346811	0.04930	T	-0.735947	0.04063	T	0.0700963822954792	0.08664	T	0.359964	0.08281	T	0.03438067	0.03846	0.04243111	0.05052	0.03438067	0.03846	0.04243111	0.05051	2.614	0.00030	T	.	.	0.040	0.00014	B	.	.	-0.668012	0.01396	0.081	0.1028743499578364	0.00126	0.00008	0.00134	N	AEFI	0.010690	0.00081	N	-1.89761845329633	0.00347	0.01490997	-1.82639125041871	0.00678	0.03017617	2.83126045677641E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-0.159	0.12724	0.606000	0.23891	-0.592000	0.08316	-0.320000	0.05874	0.008000	0.17931	0.000000	0.08366	0.012000	0.09680	0.0:0.2712:0.0:0.7288	3.235	0.06361	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	446.43	36	chr1	13389788	.	C	T	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.413;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.27;MQRankSum=-11.05;QD=3.38;ReadPosRankSum=1.98;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1064:.	9	0	1	0
chr1	13389835	13389835	C	T	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.C178T:p.P60S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.000519209070154	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs878905302	0.0002	0.0004	0.0002	0.0002	0.0041	0.0002	0.0002	0.0035	0.0033	0.0041	0.0008	0	5.038e-05	0	0.0013	0.0001	0.0003	0	0.0013	0.0014	0.0013	0.0014	0.0043	0.0012	0.0011	0.0038	0.0036	0.0043	0	0.0012	0	0	0	0	8.824e-05	0.0014	0	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999947	0.19238	N	3.73	0.94857	H	2.34	0.16351	T	-7.51	0.95074	D	0.442	0.48042	-1.0249	0.22116	T	0.134	0.44720	T	10	0.41863424	0.56712	T	0.001271	0.01733	T	0.156	0.40720	0.85	0.95202	0.196089822672	0.19227	0.6860648120516822	0.68546	3.31666214769	0.99594	0.552836596966	0.46258	T	0.378699	0.74161	T	-0.128758	0.31697	T	-0.422728	0.30764	T	0.599439978599548	0.36378	D	0.824917	0.48720	T	0.7443584	0.80543	0.44385314	0.67587	0.7443584	0.80544	0.44385314	0.67587	-7.92	0.60524	D	.	.	0.464	0.62874	A	.	.	2.373652	0.30458	18.44	0.99598825182559148	0.74101	0.13614	0.17955	N	AEFI	0.033352	0.03938	N	0.180650014561441	0.50270	3.218696	-0.123216797300957	0.34456	1.982199	5.5610729557629E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	1.09	0.19517	1.680000	0.37224	1.139000	0.24389	0.445000	0.21165	1.000000	0.71638	0.994000	0.32194	0.066000	0.16387	0.0:1.0:0.0:0.0	5.599	0.16625	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	223.43	36	chr1	13389835	.	C	T	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.2;DP=438;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.58;MQRankSum=-11.01;QD=1.82;ReadPosRankSum=-1.434;SOR=1.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1064:.	9	0	1	0
chr1	13389845	13389845	G	A	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon1:c.G188A:p.R63H	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00107702405104	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs879165544	0.0001	0.0002	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0010	0.0001	8.944e-05	0	0.0014	3.744e-05	0	9.715e-05	0.0001	4.64e-05	0.0001	0.0002	0.0001	0.0002	0.0014	9.159e-05	7.713e-05	0.0006	0.0005	7.246e-05	0	0.0002	0	0.0014	0	0	0.0001	0	0.0002	0.191	0.21066	T	0.544	0.09621	T	0.012	0.16265	B	0.004	0.10090	B	0.383110	0.04433	N	1.379330	1	0.08975	N	1.075	0.27130	L	0.86	0.46777	T	-2.14	0.48523	N	0.215	0.24010	-1.0496	0.14509	T	0.129	0.43848	T	10	0.12911937	0.24566	T	0.003043	0.06547	T	0.125	0.34456	0.534	0.64293	0.043077524339	0.03247	0.26275243924267794	0.26188	2.13410484638	0.95201	0.493344068527	0.37902	T	0.066734	0.33021	T	-0.258023	0.13132	T	-0.608409	0.12114	T	0.034310512450044	0.02691	T	0.0767923	0.00564	T	0.032324117	0.03236	0.037530858	0.03425	0.032324117	0.03235	0.037530858	0.03425	-3.49	0.16292	T	.	.	0.080	0.07889	B	.	.	0.585481	0.09539	6.316	0.26395503035690338	0.01262	0.00305	0.01619	N	AEFI	0.032876	0.03794	N	-1.20662437717423	0.04901	0.2222587	-1.38106114101122	0.03454	0.161143	5.12982806261287E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.88	0.07294	0.082000	0.14697	-5.402000	0.01732	-0.315000	0.05944	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	0.2528:0.0:0.4105:0.3366	1.831	0.02941	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	192.43	36	chr1	13389845	.	G	A	192.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.041;DP=435;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.74;MQRankSum=-10.88;QD=1.6;ReadPosRankSum=-1.696;SOR=1.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1064:.	9	0	1	0
chr1	13392054	13392054	A	G	exonic	PRAMEF17	.	nonsynonymous SNV	PRAMEF17:NM_001099851:exon3:c.A977G:p.H326R	.	516	994	10	2	0	14	0.00699301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.0117812	0.0036	0.0024	0.0009	0.0242	0.0069	0.0019	0.0029	0.0027	0.000511	79	154602	rs201711294	0.0069	0.0076	0.0068	0.0070	0.0151	0.0068	0.0067	0.0141	0.0137	0.0022	0.0054	0.0071	0.0151	0.0033	0.0061	0.0070	0.0074	0.0064	0.0061	0.0063	0.0062	0.0060	0.0216	0.0058	0.0056	0.0184	0.0171	0.0032	0	0.0046	0.0058	0.0216	0.0018	0.0136	0.0077	0.0081	0.0071	0.093	0.31532	T	0.097	0.39190	T	0.0	0.02946	B	0.001	0.04355	B	0.092828	0.02472	N	2.240520	1	0.08975	N	1.035	0.25616	L	0.88	0.46028	T	-0.76	0.21215	N	0.031	0.00770	-1.0157	0.25110	T	0.072	0.29163	T	10	0.009825498	0.00221	T	.	.	.	0.063	0.18251	.	.	0.043077524339	0.03247	0.18130215486668497	0.18049	2.10714713315	0.94902	0.454899847507	0.32613	T	0.019003	0.15217	T	-0.291561	0.09481	T	-0.656584	0.08499	T	0.000628241407612618	0.00006	T	0.178082	0.01750	T	0.04939237	0.08763	0.0354886	0.02809	0.04939237	0.08763	0.0354886	0.02809	-4.076	0.24935	T	.	.	0.089	0.12371	B	.	.	-1.143306	0.00591	0.015	0.54630063686015007	0.05176	0.00349	0.01801	N	AEFI	0.020138	0.00765	N	-1.08510837124282	0.06917	0.3197995	-1.17312534660475	0.06361	0.3059897	4.6023511843228E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	1.04	0.19220	-0.042000	0.12016	-2.926000	0.03223	-2.787000	0.00188	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.321	0.10456	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015748	0.009804	0.012821	0.004902	0.000000	0.027273	0.017094	0.022936	0.05	2394.43	155	chr1	13392054	.	A	G	2394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.051;DP=523;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.14;MQRankSum=-5.755;QD=15.45;ReadPosRankSum=-0.008;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,120,1800:.	9	0	1	0
chr1	15445660	15445660	G	A	exonic	CTRC	.	nonsynonymous SNV	CTRC:NM_007272:exon7:c.G703A:p.V235I	.	415	1086	21	0	0	21	0.00957592	.	.	YES	277389	Hereditary_pancreatitis	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	0.138657935058	7.7e-05	0.00119808	0.0012	9.625e-05	0.0005	0	0	0.0003	0	0.0068	0.0009832	152	154602	rs140993290	0.0007	0.0007	0.0004	0.0009	0.0079	0.0006	0.0006	0.0074	0.0072	0.0003	0.0002	0.0005	0	3.744e-05	0.0050	0.0002	0.0005	0.0079	0.0005	0.0005	0.0003	0.0007	0.0083	0.0004	0.0004	0.0063	0.0056	9.624e-05	0	6.538e-05	0.0014	0.0002	0	0.0034	0.0003	0.0009	0.0083	0.006	0.61437	D	0.007	0.69154	D	0.996	0.68779	D	0.969	0.72001	D	0.000067	0.52346	D	0.126644	0.999064	0.81001	D	1.1	0.28011	L	-3.46	0.94508	D	-0.93	0.24898	N	0.524	0.55366	0.983	0.96904	D	0.897	0.96582	D	10	0.025823325	0.00765	T	0.138658	0.82115	D	0.797	0.93346	.	.	0.824012481446	0.82234	0.5726204761015677	0.57190	0.633953125668	0.57268	0.422646105289	0.28200	T	0.259948	0.63127	T	-0.0207142	0.48752	T	0.201614	0.83215	D	0.0184037413051345	0.00557	T	0.783522	0.42019	T	0.6675369	0.76301	0.7689695	0.86357	0.6858084	0.77285	0.71754605	0.83327	-10.422	0.76398	D	0.3872254015445177	0.48088	0.208	0.43448	B	.	.	4.622077	0.73408	26.0	0.99874658187836918	0.95160	0.96887	0.71481	D	AEFGBI	0.763965	0.70090	D	0.623640137267991	0.74673	6.172706	0.536749447529981	0.70482	5.51161	0.996679899047473	0.34917	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.38	4.38	0.52019	3.662000	0.54249	11.510000	0.92999	0.676000	0.76740	0.936000	0.32490	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	16.050	0.80559	917	0.20147	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.003788	0.05	1482.43	111	chr1	15445660	.	G	A	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=453;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.584;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1095	9	0	1	0
chr1	15481128	15481128	T	C	exonic	CELA2B	.	nonsynonymous SNV	CELA2B:NM_015849:exon3:c.T160C:p.W54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.0866125374213	.	0.000798722	9.885e-05	0.0012	0	0	0	0	0	0	0.0001035	16	154602	rs570562745	1.574e-05	1.642e-05	1.771e-05	1.376e-05	0.0006	1.048e-05	8.76e-06	0.0004	0.0004	0.0006	2.236e-05	0	0	0	0	8.993e-07	0	0	0.0002	0.0002	0.0003	0.0001	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0.0002	0	0	0	0	0	0	0	0.052	0.45039	T	0.049	0.54541	D	1.0	0.90584	D	0.988	0.77976	D	0.000064	0.52346	U	0.000000	0.523754	0.31548	N	0.115	0.08564	N	-2.31	0.90962	D	-11.07	0.99897	D	0.776	0.77319	0.459	0.89958	D	0.674	0.88696	D	10	0.50165176	0.61583	D	0.086613	0.74771	D	0.492	0.77847	0.613	0.74652	0.892778415409	0.89171	0.8222205446042016	0.82179	1.39810761714	0.85139	0.557833552361	0.46961	T	0.471656	0.82118	T	-0.115035	0.33939	T	-0.0235205	0.68797	D	0.293545155274077	0.24737	T	0.357364	0.13445	T	0.43938518	0.63363	0.4461243	0.67737	0.43938518	0.63364	0.4461243	0.67737	-9.564	0.71257	D	.	.	0.924	0.84558	P	.;.	.;.	3.040288	0.40753	21.2	0.95460818981595974	0.26994	0.87763	0.47414	D	AEFGI	0.405087	0.47811	N	0.0806346423108639	0.45559	2.810499	-0.0159472496579642	0.38995	2.30544	0.0647752799581796	0.15340	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.85	3.85	0.43556	3.693000	0.54467	4.620000	0.44072	0.573000	0.29008	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.0:1.0	10.916	0.46351	921	0.19240	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2006.43	33	chr1	15481128	.	T	C	2006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.033;DP=523;ExcessHet=0;FS=0.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=1.02;QD=12.78;ReadPosRankSum=-1.478;SOR=0.769	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	336.1	40	chr1	15518245	.	C	T	336.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.497;DP=1203;ExcessHet=4.5998;FS=175.279;InbreedingCoeff=-0.3998;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.57;SOR=10.685	GT:AD:DP:GQ:PL	0/1:119,36:155:46:46,0,2774	4	0	6	0
chr1	15559540	15559540	G	C	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon7:c.G102C:p.K34N,DNAJC16:NM_015291:exon8:c.G1038C:p.K346N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0328347890655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0033	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.11e-05	2.242e-05	0.0002	0.0002	0.0002	0	0.0003	0.0002	6.995e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.40832	T	0.002	0.83351	D	0.998	0.73220	D	0.852	0.60758	P	0.000001	0.84330	D	0.092863	0.978976	0.25213	N	2.62	0.76659	M	2.29	0.17113	T	-1.14	0.29323	N	0.808	0.81658	-1.0776	0.07821	T	0.076	0.30492	T	10	0.615474	0.67681	D	0.032835	0.54554	D	0.109	0.30843	0.288	0.24761	0.361160317528	0.35726	0.7971393182230749	0.79666	0.675634459511	0.59719	0.593763709068	0.52025	T	0.024746	0.32281	T	-0.129001	0.31658	T	-0.423077	0.30724	T	0.763135969638824	0.44033	D	0.957038	0.84692	D	0.17311552	0.38042	0.10023495	0.23959	0.17311552	0.38041	0.10023495	0.23958	-3.109	0.43915	T	.	.	0.535	0.66159	A	.;.;.;.	.;.;.;.	4.221675	0.63864	24.6	0.99651966654979685	0.77380	0.89772	0.50455	D	AEFDGBCI	0.332943	0.43219	N	0.165367727067141	0.49541	3.153414	0.114872783977894	0.45307	2.796318	0.999975053923645	0.50053	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.95	4.1	0.47196	2.185000	0.42215	3.965000	0.40779	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.2241:0.0:0.7759:0.0	9.034	0.35440	906	0.23090	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	142.73	74	chr1	15559540	.	G	C	142.73	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-4.323;DP=924;ExcessHet=0.2348;FS=227.947;InbreedingCoeff=-0.177;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=1.03;SOR=9.49	GT:AD:DP:GQ:PL	0/1:96,26:122:99:122,0,2062	6	0	2	2
chr1	15566144	15566144	G	T	exonic	DNAJC16	.	nonsynonymous SNV	DNAJC16:NM_001287811:exon12:c.G806T:p.G269V,DNAJC16:NM_015291:exon13:c.G1742T:p.G581V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0375384585736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.022	0.61642	D	0.664	0.41009	P	0.296	0.40883	B	0.025477	0.26083	N	0.485943	0.994313	0.42237	D	1.245	0.31408	L	-0.68	0.72568	T	-2.08	0.50666	N	0.143	0.30800	-0.9400	0.42616	T	0.173	0.51532	T	10	0.17178822	0.31916	T	0.037538	0.57677	D	0.121	0.33580	0.094	0.01195	0.79719598588	0.79531	0.3876681846110728	0.38681	0.204300164365	0.22853	0.389542192221	0.23605	T	0.024118	0.31127	T	-0.00973283	0.50303	T	-0.251757	0.49643	T	0.284907221794128	0.24377	T	0.812919	0.46506	T	0.052874118	0.09926	0.070262656	0.14906	0.052874118	0.09926	0.070262656	0.14905	-3.186	0.14869	T	.	.	0.087	0.11414	B	.;.;.;.	.;.;.;.	2.146113	0.27331	17.43	0.9807486610318864	0.38054	0.90949	0.52568	D	AEFBHCI	0.323270	0.42551	N	-0.233272567081523	0.31777	1.785202	-0.135518565529374	0.33971	1.948905	0.0121053498852716	0.12279	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.89	2.65	0.30588	3.100000	0.49966	2.031000	0.30254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.2695:0.2174:0.5132:0.0	3.374	0.06809	917	0.20147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	109.43	38	chr1	15566144	.	G	T	109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.816;DP=248;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.44;ReadPosRankSum=0.582;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	9	0	1	0
chr1	15725495	15725495	G	C	exonic	PLEKHM2	.	nonsynonymous SNV	PLEKHM2:NM_015164:exon8:c.G891C:p.E297D	.	419	1090	12	1	0	14	0.00638104	.	.	.	447354	not_provided|Dilated_Cardiomyopathy,_Recessive	MedGen:C3661900|MedGen:CN239222	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0042	0.00239617	0.0091	0.0008	0.0171	0	0.0183	0.0152	0	0.0013	0.0032212	498	154602	rs61738982	0.0043	0.0043	0.0043	0.0044	0.0047	0.0042	0.0042	0.0046	0.0046	0.0007	0.0038	0.0094	0	0.0034	0.0032	0.0047	0.0044	0.0016	0.0034	0.0034	0.0036	0.0032	0.0052	0.0032	0.0031	0.0048	0.0046	0.0008	0	0.0027	0.0089	0	0.0040	0.0102	0.0052	0.0047	0.0006	0.166	0.23183	T	0.365	0.16717	T	0.001	0.07471	B	0.003	0.08700	B	0.297958	0.14650	N	0.673698	0.999997	0.08975	N	1.78	0.46185	L	0.81	0.48769	T	-0.13	0.14193	N	0.098	0.09772	-1.0525	0.13709	T	0.050	0.21456	T	10	0.0027320385	0.00042	T	.	.	.	0.029	0.06676	0.092	0.01108	0.187945064343	0.18414	0.04548187094265733	0.04492	0.136916518323	0.15440	0.369736731052	0.20794	T	0.012511	0.10987	T	-0.601717	0.00142	T	-0.634351	0.10086	T	0.00112805250531267	0.00011	T	0.587941	0.21745	T	0.05514608	0.10677	0.050879143	0.08074	0.05514608	0.10676	0.050879143	0.08074	-4.44	0.30096	T	.	.	0.084	0.11172	B	.;.;.	.;.;.	0.488346	0.08577	5.343	0.98370892766588502	0.40750	0.12125	0.17075	N	AEFDBI	0.089372	0.18115	N	-1.16558310143289	0.05529	0.2522628	-1.16605404051323	0.06484	0.312281	0.933966873701734	0.27151	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.35	-0.213	0.12517	0.269000	0.18354	0.730000	0.21079	-0.118000	0.14412	0.008000	0.17931	0.113000	0.22817	0.300000	0.24500	0.2754:0.4223:0.3023:0.0	7.309	0.25639	756	0.51065	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003036	0.005051	0.002725	0.002924	0.000000	0.000000	0.009259	0.000000	0.05	1279.43	34	chr1	15725495	.	G	C	1279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.609;DP=430;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.621;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,955	9	0	1	0
chr1	15736568	15736568	A	T	exonic	SLC25A34	.	nonsynonymous SNV	SLC25A34:NM_207348:exon1:c.A83T:p.E28V	.	.	.	.	.	.	.	.	.	.	.	4067794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.933	0.355692365445	.	0.000399361	6.972e-05	0.0006	0	0	0	0	0	0	4.53e-05	7	154602	rs528673529	1.814e-05	6.226e-05	2.079e-05	1.54e-05	0.0007	1.227e-05	1.032e-05	0.0005	0.0004	0.0007	0	0	0	0	0	2.881e-06	1.87e-05	0	0.0002	0.0002	0.0002	8.128e-05	0.0005	0.0001	9.772e-05	0.0004	0.0003	0.0005	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.13	0.88074	M	-1.38	0.80301	T	-6.26	0.90608	D	0.815	0.81063	0.691	0.93063	D	0.736	0.90983	D	10	0.86930984	0.86190	D	0.355692	0.92384	D	0.933	0.98452	.	.	0.737004362553	0.73465	0.8609971060721917	0.86063	0.390075350529	0.40229	0.810443580151	0.83560	D	0.562846	0.85396	D	0.21379	0.75187	D	0.36551	0.90908	D	0.933189749717712	0.59975	D	0.962804	0.86152	D	0.8944266	0.90891	0.8935559	0.94519	0.8944266	0.90892	0.8935559	0.94519	-12.546	0.87408	D	.	.	0.983	0.91748	P	.	.	5.161483	0.86488	28.9	0.99270401802775998	0.57525	0.93906	0.59534	D	AEFDBHCI	0.845504	0.76242	D	0.760614538005735	0.83595	8.058637	0.627835361455788	0.76968	6.590069	0.999999999998632	0.74766	0.422189	0.06491	0	0.550933	0.16991	0	0.596394	0.31383	0	0.691587	0.68394	0	.	.	3.92	3.92	0.44525	3.933000	0.56257	11.139000	0.87016	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	12.864	0.57320	777	0.48198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	432.43	38	chr1	15736568	.	A	T	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.637;DP=336;ExcessHet=0;FS=3.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.406;SOR=0.26	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	9	0	1	0
chr1	15929667	15929667	C	T	exonic	SPEN	.	nonsynonymous SNV	SPEN:NM_015001:exon11:c.C3427T:p.R1143C	.	431	1083	8	0	0	8	0.00367985	.	.	.	3208072	SPEN-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.00323857580161	0.0004	0.000399361	0.0005	9.988e-05	0.0003	0	0	0.0007	0.0011	0.0008	0.0004722	73	154602	rs145802445	0.0003	0.0003	0.0002	0.0003	0.0024	0.0003	0.0003	0.0015	0.0012	5.976e-05	0.0002	0	0	0	0.0024	0.0003	0.0005	0.0010	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	4.815e-05	0	0	0	0	0	0	0.0004	0.0005	0.0010	0.132	0.26519	T	0.306	0.19972	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999984	0.18198	N	0	0.06538	N	3.09	0.08371	T	-1.59	0.38345	N	0.08	0.05542	-0.9583	0.39497	T	0.008	0.02884	T	9	0.013141364	0.00280	T	0.003239	0.07147	T	0.059	0.16972	.	.	0.082315109003	0.07666	0.10271011754872392	0.10201	0.314982508774	0.33775	0.218506008387	0.01225	T	0.57242	0.85865	D	-0.626132	0.00101	T	-0.744977	0.03685	T	0.01737310426068	0.00475	T	0.80372	0.45098	T	0.06449365	0.13690	0.048732556	0.07301	0.06449365	0.13690	0.048732556	0.07300	-7.142	0.55064	T	.	.	0.075	0.05579	B	.	.	2.811054	0.37005	20.4	0.80941301008218236	0.13442	0.68108	0.33678	D	AEFBCIJ	0.067842	0.13355	N	-0.473013561037891	0.22967	1.230	-0.242927380161229	0.30014	1.686425	0.00591882869419845	0.11077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	3.13	0.35090	2.856000	0.48040	2.831000	0.35021	0.599000	0.40250	0.998000	0.41325	0.698000	0.26216	0.988000	0.63387	0.0:0.6445:0.2198:0.1356	4.939	0.13305	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	5573.43	34	chr1	15929667	.	C	T	5573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.19;DP=2223;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.05;SOR=0.85	GT:AD:DP:GQ:PL	0/0:198,0:198:99:0,120,1800	9	0	1	0
chr1	16017190	16017190	C	T	exonic	HSPB7	.	nonsynonymous SNV	HSPB7:NM_001349683:exon2:c.G229A:p.G77S,HSPB7:NM_001349686:exon2:c.G217A:p.G73S,HSPB7:NM_001349687:exon2:c.G217A:p.G73S,HSPB7:NM_001349688:exon2:c.G229A:p.G77S,HSPB7:NM_001349689:exon2:c.G232A:p.G78S,HSPB7:NM_014424:exon2:c.G217A:p.G73S,HSPB7:NM_001349682:exon3:c.G442A:p.G148S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.320755214526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.08996	T	0.026	0.56640	D	0.997	0.77913	D	0.921	0.69900	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	-2.87	0.94940	D	-0.41	0.24460	N	0.714	0.74918	0.417	0.89360	D	0.805	0.93421	D	10	0.73559964	0.74598	D	0.320755	0.91467	D	0.561	0.82003	0.321	0.30064	0.973220696517	0.97293	0.7218208348204903	0.72126	0.772346005941	0.64831	0.731583535671	0.71737	T	0.025069	0.18817	T	0.277774	0.81124	D	0.161226	0.80880	D	0.933558225631714	0.60039	D	0.940606	0.77652	D	0.1631685	0.36441	0.17315339	0.39622	0.1631685	0.36440	0.17315339	0.39621	-3.724	0.23218	T	.	.	0.134	0.50572	B	.;.;.;.;.;.	.;.;.;.;.;.	4.651717	0.74163	26.1	0.99682679654099771	0.79373	0.97366	0.74295	D	AEFDGBI	0.977624	0.99731	D	0.179185868575928	0.50201	3.212351	0.205753943730955	0.50167	3.211568	0.999999999999967	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	5.772000	0.68543	7.572000	0.60737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.318000	0.24924	0.0:1.0:0.0:0.0	17.379	0.87290	439	0.80177	Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain;.;Alpha crystallin/Hsp20 domain|Heat shock protein beta-7, ACD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3398.43	33	chr1	16017190	.	C	T	3398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=537;ExcessHet=0;FS=3.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=1.32;SOR=0.992	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1248	9	0	1	0
chr1	16150928	16150928	G	C	exonic	EPHA2	.	nonsynonymous SNV	EPHA2:NM_004431:exon2:c.C121G:p.L41V	Cataract 6, multiple types, Autosomal dominant	0	1486	35	1	0	37	0.0122964	.	.	.	277032	not_provided|Cataract_6_multiple_types	MedGen:C3661900|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.359	.	0.0003	0.00219649	0.0024	9.649e-05	0.0003	0	0	0.0008	0.0033	0.0141	0.0020051	310	154602	rs147977279	0.0011	0.0011	0.0007	0.0015	0.0132	0.0011	0.0011	0.0126	0.0123	5.974e-05	0.0002	0	0	0	0.0073	0.0003	0.0014	0.0132	0.0006	0.0006	0.0004	0.0009	0.0126	0.0005	0.0005	0.0101	0.0092	9.625e-05	0	0.0002	0	0	0	0	0.0004	0.0005	0.0126	0.001	0.78490	D	0.004	0.74150	D	0.993	0.65571	D	0.989	0.78396	D	0.104332	0.19708	N	0.347855	0.999996	0.58761	D	2.645	0.77386	M	3.18	0.07478	T	-2.27	0.50666	N	0.721	0.72299	-1.0066	0.27973	T	0.095	0.35950	T	10	0.014636934	0.00308	T	.	.	.	0.359	0.67962	.	.	0.51585977439	0.51228	0.7065593612972182	0.70597	1.57610209646	0.88303	0.66790241003	0.62538	T	0.29296	0.66567	T	-0.40684	0.02086	T	-0.345498	0.39720	T	0.0443064352915746	0.04475	T	0.957704	0.84069	D	0.5229003	0.68426	0.50373375	0.71314	0.6663699	0.76240	0.5203363	0.72288	-7.228	0.55682	T	.	.	0.416	0.60448	A	.	.	4.794347	0.77832	26.8	0.99855624201752635	0.93458	0.94351	0.60889	D	AEFDGBCI	0.377127	0.46101	N	0.810017879435366	0.86730	8.979686	0.738519685415545	0.85298	8.538629	0.999996903580486	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.87	4.78	0.60666	3.419000	0.52486	9.572000	0.81012	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0903:0.0:0.9097:0.0	13.144	0.58869	337	0.86119	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-A receptor 2, ligand binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	1028.14	35	chr1	16150928	.	G	C	1028.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.222;DP=372;ExcessHet=0.2348;FS=1.685;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.159;SOR=0.482	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1111	8	0	2	0
chr1	16400834	16400834	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon9:c.G991A:p.V331I,SPATA21:NM_198546:exon11:c.G1060A:p.V354I	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00514295662579	7.7e-05	0.000399361	0.0005	0	0.0007	0	0	0.0001	0	0.0029	0.0004204	65	154602	rs140765732	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0024	0.0023	2.987e-05	0.0008	0	2.519e-05	0	0.0012	5.755e-05	0.0004	0.0026	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	9.62e-05	0	0.0009	0	0	0	0	0	0.0009	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.994206	0.08010	N	0.996911	1	0.08975	N	-1.79	0.00298	N	0.99	0.63403	T	0.06	0.07008	N	0.041	0.01658	-1.0237	0.22508	T	0.060	0.25090	T	10	0.005812824	0.00130	T	0.005143	0.13063	T	0.081	0.23632	.	.	0.0716867268079	0.06686	0.13942537549410816	0.13865	0.0730412947791	0.08188	0.31747674942	0.13039	T	6.92E-4	0.00312	T	-0.603146	0.00140	T	-0.64408	0.09374	T	0.00645700944199864	0.00072	T	0.324268	0.07018	T	0.024307951	0.01250	0.055541426	0.09761	0.024307951	0.01249	0.055541426	0.09761	-3.397	0.15016	T	.	.	0.060	0.01161	B	.;.;.	.;.;.	-0.536659	0.01753	0.132	0.80793261980074038	0.13371	0.00277	0.01499	N	AEFDBCI	0.011297	0.00097	N	-1.33076955875802	0.03329	0.1484966	-1.21596256966188	0.05653	0.2699394	0.981349876414268	0.30250	0.421363	0.06395	0	0.379588	0.06130	0	0.536957	0.11973	0	0.714379	0.83352	0	.	.	3.93	2.8	0.31881	-0.291000	0.08379	-0.833000	0.07248	-0.115000	0.14600	0.003000	0.16062	0.000000	0.08366	0.055000	0.15596	0.0:0.1115:0.0:0.8885	6.368	0.20670	764	0.49969	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	958.43	33	chr1	16400834	.	C	T	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.245;DP=405;ExcessHet=0;FS=2.8;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.9;SOR=0.45	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1073	9	0	1	0
chr1	16410043	16410043	C	T	exonic	SPATA21	.	nonsynonymous SNV	SPATA21:NM_001353349:exon4:c.G76A:p.E26K,SPATA21:NM_198546:exon6:c.G145A:p.E49K	.	399	1109	14	0	0	14	0.0062724	0.0682	0.342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	.	0.0004	0.000599042	0.0010	0.0002	0.0011	0	0	0.0014	0.0026	0.0008	0.0009702	150	154602	rs201182640	0.0008	0.0008	0.0008	0.0008	0.0106	0.0008	0.0008	0.0083	0.0076	0.0004	0.0010	0.0049	0	1.96e-05	0.0106	0.0007	0.0017	0.0007	0.0007	0.0007	0.0008	0.0007	0.0012	0.0006	0.0006	0.0008	0.0007	0.0002	0	0.0012	0.0043	0	0	0.0136	0.0009	0.0019	0.0002	0.009	0.91255	D	0.036	0.62352	D	0.793	0.44725	P	0.196	0.36635	B	0.170082	0.17400	N	0.481200	0.708219	0.30039	N	2.255	0.64187	M	-0.86	0.74477	T	-1.73	0.41046	N	0.309	0.34874	-0.5983	0.64887	T	0.253	0.62258	T	10	0.0063958764	0.00146	T	0.02057	0.43191	T	0.221	0.51721	.	.	0.409124616982	0.40530	0.2156261966168259	0.21478	0.207277676253	0.23183	0.401835441589	0.25325	T	0.004957	0.04384	T	-0.379487	0.03139	T	-0.363435	0.37655	T	0.029477732060472	0.01909	T	0.591441	0.21800	T	0.08622826	0.20034	0.113605924	0.27418	0.08622826	0.20033	0.113605924	0.27417	-3.981	0.29216	T	.	.	0.104	0.32922	B	.;.	.;.	3.894111	0.56683	23.8	0.99815731946285613	0.89885	0.17090	0.19685	N	AEFDBI	0.117871	0.23073	N	-0.364218364561367	0.26753	1.462499	-0.432620193178793	0.24046	1.31461	0.999546033684751	0.40300	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	0.615	0.16784	-0.163000	0.09986	0.415000	0.18155	0.534000	0.24903	0.079000	0.22314	0.986000	0.30841	0.499000	0.28994	0.0:0.3971:0.6029:0.0	11.609	0.50307	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004601	0.010309	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	901.43	37	chr1	16410043	.	C	T	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=0.038;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,994:.	9	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:367,147:514:99:3151,0,10179	0	0	10	0
chr1	16563970	16563970	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00252300938037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.12432957	0.23613	T	0.002523	0.05037	T	.	.	.	.	0.0297737177859	0.01360	0.028000079761831612	0.02750	.	.	0.583639860153	0.50598	T	.	.	.	-0.287952	0.09843	T	-0.651399	0.08856	T	.	.	.	0.764624	0.39166	T	.	.	.	.	.	.	.	.	-2.436	0.05358	T	.	.	0.881	0.81531	P	.	.	1.895493	0.24075	16.26	0.6732318401386217	0.08320	0.04228	0.09747	N	AEFDBCI	0.035611	0.04611	N	.	.	.	.	.	.	8.36429453886604E-4	0.07887	0.383005	0.05895	0	0.063085	0.00849	2	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	1.182000	0.31639	0.176000	0.15576	0.349000	0.19912	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	583.43	798	chr1	16563970	.	G	C	583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=5679;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.73;MQRankSum=0.662;QD=0.81;ReadPosRankSum=-0.656;SOR=0.905	GT:AD:DP:GQ:PL	0/0:519,0:519:99:0,120,1800	9	0	1	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:511,215:726:99:4242,0,13174	0	0	10	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:486,0:486:99:.:.:0,120,1800:.	3	0	7	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.122310	0.050633	0.116848	0.149573	0.000000	0.129310	0.113475	0.169355	0.15	2935.45	770	chr1	16564112	.	G	A	2935.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.06;DP=6069;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.24;MQRankSum=4.23;QD=1.31;ReadPosRankSum=0.23;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:486,0:486:99:.:.:0,120,1800:.	7	0	3	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:272,199:471:99:4644,0,7946	0	0	10	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:374,79:453:99:1032,0,12556	1	0	9	0
chr1	16564831	16564831	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	353	1167	2	0	0	2	0.000856164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00052673715664	.	.	0.0098	0.1150	0.0039	0	0	0.0007	0.0090	0.0006	0.0001153	3	26028	rs770437557	0.0008	0.0006	0.0008	0.0008	0.0317	0.0007	0.0006	0.0254	0.0231	0.0317	0.0005	0.0023	0	0	0	7.253e-05	0.0007	0.0005	0.0142	0.0030	0.0048	0.0417	0.0400	0.0048	0.0029	0.0137	0.0082	0.0400	0	0	0	.	0	.	0	.	.	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	.	.	.	.	.	.	.	0.0032152236	0.00055	T	.	.	.	.	.	.	.	0.272639205421	0.26888	0.027268892915967798	0.02676	.	.	0.477838367224	0.35759	T	.	.	.	-0.419567	0.01721	T	-0.363131	0.37690	T	.	.	.	0.979802	0.93081	D	.	.	.	.	.	.	.	.	-6.235	0.48205	T	.	.	0.191	0.40921	B	.;.	.;.	2.266331	0.28962	17.97	0.85227618949389328	0.15763	0.02401	0.06803	N	AEFDBHCI	0.047497	0.08004	N	.	.	.	.	.	.	7.43775687916315E-4	0.07741	0.186212	0.04012	1	0.332388	0.05802	1	0.099648	0.03028	3	0.289096	0.05476	2	.	.	0.448	0.448	0.15824	0.000000	0.12910	-1.249000	0.05911	0.000000	0.17513	0.068000	0.22015	0.000000	0.08366	0.068000	0.16518	.	.	.	493	0.76500	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015267	0.005102	0.028533	0.031915	0.000000	0.017241	0.000000	0.000000	0.05	448.43	494	chr1	16564831	.	T	C	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.413;DP=3045;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.11;MQRankSum=1.83;QD=0.66;ReadPosRankSum=1.32;SOR=0.684	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,110,1800	9	0	1	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1	5105.14	143	chr1	16567226	.	A	C	5105.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.71;DP=3343;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.35;MQRankSum=-2.313;QD=2.9;ReadPosRankSum=1;SOR=0.718	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1283	8	0	2	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1	5704.14	147	chr1	16569091	.	T	C	5704.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.036;DP=1533;ExcessHet=0.2348;FS=0.539;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.19;MQRankSum=-0.791;QD=6.99;ReadPosRankSum=0.879;SOR=0.72	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	8	0	2	0
chr1	16569128	16569128	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	388	1111	23	0	0	23	0.010245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0074	0.0196	0.0046	0.0329	0	0.0016	0.0066	0.0151	0.0059702	923	154602	rs373437793	0.0003	0.0004	0.0002	0.0003	0.0014	0.0002	0.0002	0.0011	0.0010	0.0004	0.0014	0	0.0007	0	0.0006	0.0001	0.0002	0.0012	0.0001	0.0002	7.938e-05	0.0002	0.0002	7.076e-05	5.588e-05	6.669e-05	4.616e-05	0.0002	0	0.0001	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009719	0.005263	0.014986	0.012712	0.055556	0.000000	0.003165	0.011538	0.05	802.43	147	chr1	16569128	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.899;DP=1820;ExcessHet=0;FS=2.406;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.88;MQRankSum=-1.196;QD=1.5;ReadPosRankSum=0.063;SOR=0.507	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr1	16574541	16574541	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	377	1144	1	0	0	1	0.000436872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00192525830407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.871e-07	1.368e-06	1.368e-06	0	9.027e-07	0	0	.	.	0	0	0	0	0	0	9.027e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.59732	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.09914	.	.	.	.	.	.	.	0.09916836	0.17978	T	0.001925	0.03404	T	.	.	.	.	0.0138822411134	0.00435	0.0038890503007139483	0.00364	.	.	0.452292233706	0.32257	T	.	.	.	-0.322173	0.06721	T	-0.700555	0.05795	T	.	.	.	0.743326	0.36245	T	.	.	.	.	.	.	.	.	-5.208	0.39023	T	.	.	0.216	0.45024	B	.;.	.;.	1.040784	0.14214	10.79	0.19681274525298001	0.00675	0.00292	0.01564	N	AEFBI	0.038782	0.05538	N	.	.	.	.	.	.	8.06636627652658E-5	0.04552	0.360735	0.05675	0	0.346384	0.05893	0	0.292756	0.05521	0	0.370666	0.05837	0	.	.	0.626	-0.651	0.10879	-1.116000	0.03397	-9.992000	0.00752	-1.783000	0.00648	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	442	0.79946	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	953.43	563	chr1	16574541	.	G	A	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.9;DP=1383;ExcessHet=0;FS=5.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.43;MQRankSum=1.49;QD=1.69;ReadPosRankSum=0.244;SOR=0.876	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1221	9	0	1	0
chr1	16576361	16576361	C	A	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	898.19	520	chr1	16576361	.	C	A	898.19	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.403;DP=3305;ExcessHet=0.2348;FS=1.632;InbreedingCoeff=-0.1131;MLEAC=1;MLEAF=0.05;MQ=40.85;MQRankSum=-3.796;QD=1.02;ReadPosRankSum=0.721;SOR=0.917	GT:AD:DP:GQ:PL	0/0:291,0:326:29:0,871,7994	9	0	1	0
chr1	16576420	16576420	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	376	1138	7	0	1	8	0.00306614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0190	0.0009	0.0014	0.0008	0.0008	0.0023	0.0020	0.0001537	4	26028	rs71224949	0.0003	0.0019	0.0002	0.0003	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	0.0002	0.0016	0.0007	5.63e-05	0.0007	9.502e-05	0.0004	0.0009	0.0024	0.0099	0.0025	0.0022	0.0075	0.0022	0.0021	0.0068	0.0065	0.0075	0	0.0017	0.0003	0.0002	0.0007	0.0034	0.0001	0.0014	0.0013	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.29544	.	.	.	.	.	.	.	0.006000161	0.00135	T	.	.	.	.	.	.	.	0.428401797576	0.42457	0.025271005007065504	0.02478	.	.	0.57541012764	0.49440	T	.	.	.	-0.390947	0.02652	T	-0.799345	0.01919	T	.	.	.	0.728327	0.34315	T	.	.	.	.	.	.	.	.	-7.356	0.56593	T	.	.	0.174	0.38117	B	.;.	.;.	1.822071	0.23154	15.91	0.71471893975274703	0.09640	0.00413	0.02050	N	AEFBI	0.054188	0.09830	N	.	.	.	.	.	.	1.1785212342222E-4	0.05269	0.228283	0.04149	0	0.429362	0.06391	1	0.076283	0.02329	2	0.195515	0.04268	0	.	.	1.14	-2.24	0.06518	0.083000	0.14718	-3.937000	0.02441	0.172000	0.17770	0.033000	0.20612	0.000000	0.08366	0.039000	0.14166	0.2378:0.0:0.4414:0.3208	1.832	0.02942	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006152	0.000000	0.008174	0.008475	0.000000	0.017241	0.003311	0.000000	0.05	518.43	423	chr1	16576420	.	G	A	518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.606;DP=2780;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.91;MQRankSum=-4.207;QD=1.87;ReadPosRankSum=-0.403;SOR=0.709	GT:AD:DP:GQ:PL	0/0:282,0:282:99:0,120,1800	9	0	1	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.25	3929.15	330	chr1	16577387	.	T	C	3929.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.94;DP=2502;ExcessHet=2.8389;FS=2.449;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=41.6;MQRankSum=-3.074;QD=3.11;ReadPosRankSum=-1.371;SOR=0.969	GT:AD:DP:GQ:PL	0/1:174,59:233:99:1121,0,4188	5	0	5	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	1009.31	72	chr1	16579293	.	A	G	1009.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.23;DP=466;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.429;MQ=35.93;MQRankSum=0.756;QD=4.59;ReadPosRankSum=-1.271;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:41,0:41:0:.:.:0,0,1326:.	2	0	5	3
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3125	1005.64	72	chr1	16579294	.	T	C	1005.64	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=465;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4289;MLEAC=6;MLEAF=0.375;MQ=35.91;MQRankSum=0.756;QD=4.57;ReadPosRankSum=-1.305;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:25:.:.:0,25,1433:.	3	0	5	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.25	464.7	70	chr1	16579305	.	G	A	464.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.45;DP=449;ExcessHet=2.8389;FS=126.997;InbreedingCoeff=-0.3739;MLEAC=5;MLEAF=0.25;MQ=35.64;MQRankSum=0.725;QD=2.18;ReadPosRankSum=-1.5;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:93:.:.:0,93,1432:.	5	0	5	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2	310.61	69	chr1	16579308	.	G	C	310.61	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.011;DP=446;ExcessHet=1.5895;FS=110.764;InbreedingCoeff=-0.2501;MLEAC=4;MLEAF=0.2;MQ=35.66;MQRankSum=0.683;QD=2.17;ReadPosRankSum=-1.139;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:94:.:.:0,94,1771:.	6	0	4	0
chr1	16581485	16581485	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	382	1115	25	0	0	25	0.0110865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0003	0.0006	0.0005	0	0.0013	0.0033	0.0068	3.84e-05	1	26028	rs773373678	0.0004	0.0010	0.0003	0.0005	0.0052	0.0004	0.0003	0.0037	0.0032	5.979e-05	0.0002	0.0062	0.0003	0	0.0052	8.099e-05	0.0007	0.0024	0.0004	0.0010	0.0004	0.0005	0.0015	0.0004	0.0003	0.0007	0.0005	2.405e-05	0	0.0003	0.0090	0.0004	0	0.0034	0.0003	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014237	0.006494	0.015027	0.017241	0.000000	0.035088	0.010490	0.015748	0.05	901.43	782	chr1	16581485	.	G	A	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.768;DP=5273;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.1;MQRankSum=0.98;QD=1.25;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PL	0/1:613,111:724:99:913,0,15328	9	0	1	0
chr1	16585563	16585563	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011903153584	.	.	0.0007	0.0069	0.0011	0	0	0	0	0	3.84e-05	1	26028	rs760712730	4.168e-05	0.0002	4.191e-05	4.146e-05	0.0010	3.265e-05	2.925e-05	0.0007	0.0006	0.0010	0.0002	0	0	0	0	2.078e-06	0.0003	0	0.0007	0.0024	0.0008	0.0006	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0005	0	0	0	0	0	0.0005	0	.	.	.	0.087	0.40747	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	0.0071806908	0.00163	T	0.00119	0.01533	T	.	.	.	.	0.487843537783	0.48417	0.01722483744877485	0.01677	.	.	0.522105276585	0.41922	T	.	.	.	-0.415725	0.01822	T	-0.834936	0.01178	T	.	.	.	0.660434	0.29327	T	.	.	.	.	.	.	.	.	-10.629	0.77584	D	.	.	0.249	0.48365	B	.;.	.;.	1.689913	0.21535	15.24	0.3928902599643247	0.02702	0.00231	0.01293	N	AEFI	0.037882	0.05277	N	.	.	.	.	.	.	1.01336842137827E-4	0.05123	0.163922	0.03765	0	0.096583	0.02683	0	0.175069	0.04249	0	0.24341	0.04801	0	.	.	.	.	.	0.585000	0.23580	-7.024000	0.01249	0.475000	0.22001	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	245.43	141	chr1	16585563	.	T	C	245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.703;DP=600;ExcessHet=0;FS=2.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.91;MQRankSum=0.008;QD=3.23;ReadPosRankSum=1.16;SOR=1.244	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,114,1710	9	0	1	0
chr1	16585649	16585649	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	444	1072	6	0	0	6	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0132	0.0064	0.0087	0.0063	0.0178	0.0172	0.0154	0.0063	3.84e-05	1	26028	rs758865423	0.0004	0.0031	0.0004	0.0004	0.0021	0.0004	0.0004	0.0010	0.0008	0.0002	4.516e-05	0.0002	0.0002	0.0002	0.0021	0.0005	0.0003	0.0003	0.0001	0.0006	0.0002	5.375e-05	0.0002	7.578e-05	6.282e-05	0.0001	8.889e-05	4.809e-05	0	6.54e-05	0	0	9.429e-05	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022807	0.035714	0.027397	0.013043	0.000000	0.035088	0.021739	0.008197	0.05	111.43	177	chr1	16585649	.	G	A	111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.41;DP=1092;ExcessHet=0;FS=4.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.52;MQRankSum=-0.21;QD=0.45;ReadPosRankSum=0.597;SOR=1.261	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	9	0	1	0
chr1	16589044	16589044	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023605930129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761873741	9.954e-07	2.211e-06	2.048e-06	0	1.427e-06	0	0	.	.	0	0	0	0	0	0	1.427e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.22098	.	.	.	.	.	.	.	0.1173833	0.22166	T	0.002361	0.04590	T	.	.	.	.	0.399596177874	0.39575	0.03473600224611081	0.03420	.	.	0.659978508949	0.61406	T	.	.	.	-0.305693	0.08133	T	-0.676884	0.07175	T	.	.	.	0.881612	0.60121	D	.	.	.	.	.	.	.	.	-8.965	0.67471	D	.	.	0.199	0.42259	B	.;.	.;.	2.084576	0.26515	17.14	0.90539374395287542	0.19795	0.01153	0.04166	N	AEFI	0.031406	0.03356	N	.	.	.	.	.	.	0.996179668057382	0.34572	0.360735	0.05675	0	0.346384	0.05893	0	0.231597	0.04857	0	0.370666	0.05837	0	.	.	0.557	0.557	0.16448	1.127000	0.30970	-8.807000	0.00910	-2.080000	0.00403	0.051000	0.21449	0.000000	0.08366	0.000000	0.00833	1.0E-4:0.0:0.9999:0.0	6.951	0.23726	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	88.82	95	chr1	16589044	.	G	A	88.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.245;DP=520;ExcessHet=0;FS=0;InbreedingCoeff=-0.0745;MLEAC=1;MLEAF=0.05;MQ=23.16;MQRankSum=-0.735;QD=2.87;ReadPosRankSum=-1.04;SOR=0.346	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr1	16591948	16591948	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	379	1141	2	0	0	2	0.000875657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0189	.	0.0131	0.1443	0.0055	0	0	0.0020	0.01	0.0002	0.0105497	1631	154602	rs201576546	0.0001	0.0004	0.0001	0.0001	0.0035	0.0001	0.0001	0.0030	0.0028	0.0035	6.717e-05	0.0010	0	0	0.0005	2.52e-05	0.0002	0	0.0005	0.0015	0.0006	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	0.0018	0	6.64e-05	0.0006	0	0	0	5.892e-05	0.0014	0	.	.	.	0.115	0.42086	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21188	.	.	.	.	.	.	.	0.0025278926	0.00038	T	.	.	.	.	.	.	.	.	.	0.06431607410502116	0.06370	.	.	0.538407564163	0.44220	T	.	.	.	-0.212618	0.19012	T	-0.543187	0.17985	T	.	.	.	0.70223	0.31206	T	.	.	.	.	.	.	.	.	1.779	0.00064	T	.	.	0.108	0.34514	B	.;.	.;.	-0.902172	0.00922	0.035	0.92894088285004783	0.22446	0.00184	0.01074	N	AEFDHCIJ	0.027552	0.02270	N	.	.	.	.	.	.	0.999999596339861	0.74766	0.205481	0.04072	1	0.550037	0.16709	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-0.824	0.10266	-4.146000	0.00324	-20.000000	0.00162	-4.525000	0.00027	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022222	0.015152	0.043478	0.028926	0.000000	0.008621	0.003049	0.000000	0.05	567.43	700	chr1	16591948	.	C	T	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.86;DP=4106;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.82;MQRankSum=-0.566;QD=0.87;ReadPosRankSum=-2.239;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	9	0	1	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044824	0.040816	0.053134	0.066116	0.050000	0.051724	0.040625	0.027344	0.1	1821.14	721	chr1	16591991	.	C	T	1821.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=4193;ExcessHet=0.2348;FS=0.753;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.17;MQRankSum=-3.257;QD=1.35;ReadPosRankSum=-0.074;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1312	8	0	2	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	5590.45	486	chr1	16757526	.	C	G	5590.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.717;DP=3256;ExcessHet=0.7463;FS=0.637;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=41.16;MQRankSum=-1.526;QD=5.09;ReadPosRankSum=-0.662;SOR=0.603	GT:AD:DP:GQ:PL	0/0:181,0:181:99:0,120,1800	7	0	3	0
chr1	16758074	16758074	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon12:c.C1529T:p.T510M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	.	.	.	0.0008	0.0002	0.0006	0	0.0010	0.0011	0.0012	0.0005	3.84e-05	1	26028	rs761937193	1.647e-05	3.771e-05	1.626e-05	1.669e-05	0.0001	1.078e-05	9.21e-06	2.795e-05	1.474e-05	0.0001	0	0	0	2.077e-05	0	1.352e-05	5.416e-05	1.397e-05	2.266e-05	7.347e-05	2.913e-05	1.569e-05	4.833e-05	6.02e-06	2.67e-06	1.283e-05	6.56e-06	0	0	0	0	0	0	0	4.833e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	121.43	387	chr1	16758074	.	G	A	121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.485;DP=2495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.09;MQRankSum=-3.086;QD=0.4;ReadPosRankSum=0.214;SOR=0.736	GT:AD:DP:GQ:PL	0/0:196,23:219:51:0,51,5194	9	0	1	0
chr1	16758583	16758583	T	C	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon11:c.A1397G:p.Q466R	.	381	1122	19	0	0	19	0.00839593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	.	0.0063	0.0015	0.0026	0	0.0070	0.0081	0.0045	0.0079	0.0005379	14	26028	rs1267876048	6.221e-06	8.418e-05	9.614e-06	2.783e-06	8.161e-06	2.93e-06	2.12e-06	3.84e-06	2.78e-06	0	0	0	0	0	0	8.161e-06	0	0	5.593e-05	0.0002	2.719e-05	8.636e-05	7.629e-05	2.702e-05	1.934e-05	2.928e-05	1.917e-05	0	0.0012	6.992e-05	0	0	0.0001	0	7.629e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	448.43	143	chr1	16758583	.	T	C	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.163;DP=1655;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.49;MQRankSum=-1.413;QD=1.44;ReadPosRankSum=0.578;SOR=0.516	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	9	0	1	0
chr1	16758952	16758952	G	A	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon10:c.C1244T:p.P415L	.	333	1136	53	0	0	53	0.0227957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	0.0252	0.0141	0.0169	0	0.0352	0.0336	0.0278	0.0134	0.0211511	3270	154602	rs202225848	0.0008	0.0071	0.0008	0.0008	0.0009	0.0008	0.0007	0.0009	0.0009	0.0003	0.0003	0.0004	0	0.0003	0.0005	0.0009	0.0006	0.0007	0.0021	0.0095	0.0020	0.0022	0.0031	0.0019	0.0018	0.0024	0.0021	0.0006	0.0023	0.0031	0.0024	0	0.0047	0	0.0025	0.0025	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	103.43	587	chr1	16758952	.	G	A	103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.538;DP=4647;ExcessHet=0;FS=5.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.9;MQRankSum=-2.328;QD=0.17;ReadPosRankSum=-0.304;SOR=1.249	GT:AD:DP:GQ:PL	0/0:334,0:334:99:0,120,1800	9	0	1	0
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	125.14	218	chr1	16759377	.	A	G	125.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.52;DP=1718;ExcessHet=0.2348;FS=6.265;InbreedingCoeff=-0.1106;MLEAC=2;MLEAF=0.1;MQ=52.93;MQRankSum=-7.383;QD=0.31;ReadPosRankSum=-2.476;SOR=1.354	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	8	0	2	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	0/1:67,10:77:99:123,0,2149	1	5	4	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	4717.98	171	chr1	16760446	.	C	T	4717.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=3.08;DP=2202;ExcessHet=4.5998;FS=15.492;InbreedingCoeff=-0.4285;MLEAC=6;MLEAF=0.3;MQ=45.05;MQRankSum=-0.209;QD=3.2;ReadPosRankSum=-0.377;SOR=1.841	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	4	0	6	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1466.14	574	chr1	16760964	.	A	G	1466.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.883;DP=5788;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.77;MQRankSum=-1.178;QD=1.23;ReadPosRankSum=1.13;SOR=0.705	GT:AD:DP:GQ:PL	0/0:288,0:288:99:0,120,1800	8	0	2	0
chr1	16936668	16936668	C	T	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon9:c.C988T:p.R330W	.	.	.	.	.	.	.	.	.	.	.	3962909	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0230845918892	.	.	4.789e-05	0.0002	0	0	0	2.947e-05	0	0.0001	2.59e-05	4	154602	rs763931467	3.463e-05	4.036e-05	2.337e-05	4.605e-05	0.0002	2.664e-05	2.404e-05	4.104e-05	2.388e-05	0.0001	0	0	0	3.9e-05	0.0002	3.263e-05	0.0001	1.194e-05	3.281e-05	3.936e-05	1.284e-05	5.367e-05	7.348e-05	1.259e-05	7.97e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.962863	0.38315	D	.	.	.	2.51	0.14284	T	-4.35	0.76900	D	0.672	0.67995	-0.9845	0.33951	T	0.089	0.34298	T	9	0.8362621	0.82782	D	0.023085	0.46030	T	0.253	0.56294	.	.	0.449474494731	0.44571	0.06839933730477114	0.06777	0.300726370093	0.32425	0.42711520195	0.28814	T	.	.	.	-0.0330381	0.46973	T	-0.0954968	0.63744	T	0.85059529542923	0.50217	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23883	B	.	.	3.790905	0.54561	23.5	0.99625139836245902	0.75655	0.53335	0.29347	D	AEFDGBI	0.226251	0.35023	N	0.141210095135354	0.48395	3.052418	-0.0094051843963119	0.39289	2.327223	0.227251691628198	0.18424	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.91	1.79	0.23992	1.138000	0.31103	2.723000	0.34327	0.599000	0.40250	0.523000	0.27135	0.993000	0.31925	0.051000	0.15275	0.3225:0.6775:0.0:0.0	11.487	0.49609	846	0.36215	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	434.43	35	chr1	16936668	.	C	T	434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=359;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-0.31;SOR=0.99	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	9	0	1	0
chr1	16970637	16970637	T	C	exonic	CROCC	.	nonsynonymous SNV	CROCC:NM_014675:exon35:c.T5654C:p.V1885A	.	429	1069	23	1	0	25	0.011558	0.0518	0.546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0063	0.0061901	0.0045	0.0173	0.0027	0	0.0003	0.0039	0.0020	0.0019	0.0028719	444	154602	rs145138931	0.0022	0.0022	0.0022	0.0022	0.0157	0.0021	0.0021	0.0145	0.0141	0.0157	0.0031	0.0046	0	0.0002	0.0157	0.0018	0.0036	0.0011	0.0059	0.0059	0.0062	0.0056	0.0149	0.0056	0.0054	0.0139	0.0135	0.0149	0	0.0044	0.0035	0	0.0002	0.0238	0.0025	0.0076	0.0015	0.161	0.23631	T	0.049	0.48336	D	.	.	.	.	.	.	.	.	.	.	0.999983	0.54805	D	.	.	.	2.69	0.12268	T	-1.91	0.44471	N	0.393	0.43417	-1.1434	0.01236	T	0.035	0.15117	T	9	0.008586884	0.00194	T	.	.	.	0.094	0.27141	.	.	0.29527378943	0.29149	0.14024493106812302	0.13947	0.283821864527	0.30819	0.550122499466	0.45875	T	.	.	.	-0.534833	0.00360	T	-0.529351	0.19352	T	0.0329127737931143	0.02457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.53701	B	.	.	3.778223	0.54311	23.5	0.99836410047426494	0.91714	0.80003	0.39760	D	AEFBCI	0.435927	0.49636	N	0.42390591296441	0.62739	4.494911	0.403996633573761	0.61814	4.386864	0.999999279184837	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.6	4.6	0.56512	5.240000	0.65201	2.798000	0.34835	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.0:0.0:1.0	12.282	0.54088	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017189	0.020408	0.028610	0.023392	0.050000	0.000000	0.003086	0.011364	0.05	726.43	40	chr1	16970637	.	T	C	726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.63;DP=402;ExcessHet=0;FS=4.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.35;SOR=1.159	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	9	0	1	0
chr1	17000309	17000309	T	A	exonic	ATP13A2	.	nonsynonymous SNV	ATP13A2:NM_001141973:exon10:c.A829T:p.S277C,ATP13A2:NM_001141974:exon10:c.A829T:p.S277C,ATP13A2:NM_022089:exon10:c.A844T:p.S282C	Kufor-Rakeb syndrome, Autosomal recessive;Spastic paraplegia 78, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	515306	Autosomal_recessive_spastic_paraplegia_type_78|Kufor-Rakeb_syndrome|not_provided	MONDO:MONDO:0014975,MedGen:C5567893,OMIM:617225,Orphanet:513436|MONDO:MONDO:0011706,MedGen:C1847640,OMIM:606693,Orphanet:306674,Orphanet:314632|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.71652311242	.	0.000199681	0.0012	0	0.0027	0	0	0	0.0075	0.0039	0.0003558	55	154602	rs538497077	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	3.038e-05	0.0008	0	0	0	0.0017	2.099e-05	0.0003	0.0027	0.0002	0.0002	0.0001	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0.0009	0	0	0	0	1.473e-05	0	0.0033	0.033	0.61437	D	0.093	0.57587	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999647	0.48019	D	3.295	0.90403	M	-2.75	0.90792	D	-3.2	0.67359	D	0.878	0.87590	0.672	0.92818	D	0.808	0.93529	D	10	0.07707608	0.12119	T	0.716523	0.97701	D	0.729	0.90501	0.744	0.87570	0.970977610466	0.97066	0.688922962712473	0.68832	1.05403310488	0.76262	0.482453584671	0.36395	T	0.826	0.95792	D	-0.0186517	0.49044	T	0.195505	0.82880	D	0.149582149042247	0.17070	T	0.950205	0.81824	D	0.31373098	0.54106	0.22297612	0.47161	0.35394886	0.57372	0.2186752	0.46579	-10.946	0.79505	D	0.4682878081554091	0.54922	0.145	0.51077	B	.;.;.;.;.	.;.;.;.;.	4.603345	0.72932	25.9	0.99040253592095528	0.51006	0.91162	0.52981	D	AEFDBI	0.489002	0.52709	N	0.553509864016431	0.70295	5.48079	0.507976475590223	0.68526	5.232249	0.27483419522533	0.18929	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	2.570000	0.45645	7.696000	0.66036	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.064	0.52876	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001015	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	1875.43	38	chr1	17000309	.	T	A	1875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.484;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.52;SOR=0.644	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr1	17338120	17338120	T	C	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon5:c.T491C:p.M164T	.	.	.	.	.	.	.	.	.	.	.	3203621	PADI4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.015	.	0.0048	0.00638978	0.0013	0.0149	0.0004	0	0	1.498e-05	0.0011	0	0.0013583	210	154602	rs11588132	0.0005	0.0005	0.0006	0.0004	0.0173	0.0005	0.0005	0.0161	0.0157	0.0173	0.0008	0	0	0	0.0009	2.7e-05	0.0013	0.0001	0.0046	0.0046	0.0048	0.0045	0.0159	0.0043	0.0042	0.0149	0.0145	0.0159	0	0.0020	0	0	0	0.0102	5.88e-05	0.0019	0	0.529	0.07048	T	0.578	0.08565	T	0.224	0.30397	B	0.131	0.32951	B	0.099154	0.19947	N	0.537298	0.997784	0.22508	N	1.33	0.33268	L	2.34	0.16351	T	-0.81	0.22294	N	0.082	0.05799	-0.9783	0.35390	T	0.009	0.03096	T	10	0.008557886	0.00194	T	.	.	.	0.015	0.02232	.	.	0.20549828249	0.20151	0.17392481891020825	0.17312	0.130270931993	0.14695	0.288032531738	0.08636	T	0.025318	0.18955	T	-0.68628	0.00044	T	-0.745596	0.03660	T	0.00115372267982541	0.00011	T	.	.	.	0.10598477	0.25061	0.077313974	0.17210	0.10598477	0.25061	0.077313974	0.17210	-2.32	0.04666	T	.	.	0.081	0.08129	B	.	.	0.179587	0.05674	2.121	0.30592967019908923	0.01681	0.48908	0.28313	N	AEFDBI	0.067397	0.13248	N	-0.755023985057364	0.14497	0.7226448	-0.707373185533505	0.16776	0.8891089	0.00202718394654044	0.09096	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	2.79	0.31792	0.553000	0.23098	-0.416000	0.09315	-0.126000	0.13398	0.391000	0.26096	0.000000	0.08366	0.018000	0.11154	0.1734:0.0943:0.0:0.7323	4.380	0.10722	658	0.62094	Protein-arginine deiminase (PAD), central domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1375.43	33	chr1	17338120	.	T	C	1375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.241;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=-0.884;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1274	9	0	1	0
chr1	17342345	17342345	T	C	exonic	PADI4	.	nonsynonymous SNV	PADI4:NM_012387:exon8:c.T878C:p.V293A	.	.	.	.	.	.	.	.	.	.	.	3211009	PADI4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.362	.	0.0039	0.00559105	0.0012	0.0138	0.0004	0	0	0	0.0011	0	0.0009638	149	154602	rs113714693	0.0004	0.0004	0.0005	0.0004	0.0159	0.0004	0.0004	0.0148	0.0143	0.0159	0.0008	0	0	0	0.0005	5.396e-06	0.0012	9.275e-05	0.0042	0.0042	0.0044	0.0040	0.0145	0.0040	0.0039	0.0136	0.0132	0.0145	0	0.0020	0	0	0	0.0102	2.941e-05	0.0019	0	0.001	0.78490	D	0.034	0.52727	D	0.999	0.77913	D	0.997	0.86255	D	0.000011	0.62929	N	0.066185	0.986377	0.40422	D	2.83	0.82355	M	1.96	0.22270	T	-3.37	0.66665	D	0.651	0.66187	-0.9251	0.44844	T	0.063	0.26172	T	10	0.021280378	0.00506	T	.	.	.	0.362	0.68230	.	.	0.433823933641	0.42998	0.4588317541215949	0.45801	0.175730073264	0.19785	0.632612109184	0.57516	T	0.252252	0.62261	T	-0.432201	0.01438	T	-0.381279	0.35573	T	0.0776673661267166	0.09685	T	.	.	.	0.78197193	0.82775	0.5948538	0.76481	0.78197193	0.82777	0.5948538	0.76482	-9.627	0.71647	D	.	.	0.256	0.49078	B	.	.	3.792412	0.54594	23.5	0.99561083743895906	0.71769	0.96575	0.69827	D	AEFDBI	0.635953	0.61528	D	0.738643204057498	0.82165	7.695414	0.672720526058396	0.80312	7.271172	0.9991537911716	0.38592	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	4.113000	0.57593	7.879000	0.72397	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	12.090	0.53021	666	0.61362	Protein-arginine deiminase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1141.43	33	chr1	17342345	.	T	C	1141.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.212;DP=435;ExcessHet=0;FS=1.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.381;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1263	9	0	1	0
chr1	17623042	17623042	C	T	exonic	ARHGEF10L	.	nonsynonymous SNV	ARHGEF10L:NM_001319838:exon4:c.C401T:p.A134V,ARHGEF10L:NM_001328124:exon4:c.C401T:p.A134V,ARHGEF10L:NM_001011722:exon10:c.C950T:p.A317V,ARHGEF10L:NM_001319837:exon10:c.C950T:p.A317V,ARHGEF10L:NM_018125:exon12:c.C1067T:p.A356V	.	424	1082	16	0	0	16	0.00733945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0176440526779	0.0021	0.00179712	0.0022	0.0006	0.0003	0	0.0014	0.0023	0.0011	0.0055	0.0021216	328	154602	rs35659971	0.0022	0.0022	0.0020	0.0023	0.0080	0.0021	0.0021	0.0062	0.0055	0.0004	0.0005	0.0017	2.519e-05	0.0009	0.0080	0.0022	0.0025	0.0055	0.0016	0.0016	0.0016	0.0017	0.0062	0.0015	0.0014	0.0045	0.0039	0.0003	0	0.0009	0.0020	0	0.0007	0.0034	0.0026	0.0005	0.0062	0.299	0.15251	T	0.306	0.20100	T	0.0	0.07471	B	0.002	0.11217	B	0.577886	0.11173	N	0.804403	0.999999	0.08975	N	0	0.06538	N	-0.16	0.65378	T	-1.0	0.26422	N	0.157	0.21056	-1.0397	0.17404	T	0.090	0.34655	T	10	0.0067733526	0.00154	T	0.017644	0.39418	T	0.103	0.29403	.	.	0.0762999501168	0.06990	0.09400740215136058	0.09332	0.615612516959	0.56040	0.224384739995	0.01578	T	0.052887	0.29288	T	-0.597705	0.00151	T	-0.629558	0.10448	T	0.00217721451537952	0.00022	T	0.773323	0.40460	T	0.0624828	0.13055	0.107744366	0.25943	0.05382828	0.10243	0.12337631	0.29749	-9.775	0.73256	D	0.12272886089529615	0.11798	0.062	0.02518	B	.;.;.	.;.;.	0.243641	0.06237	2.689	0.96311318044302952	0.29383	0.05068	0.10861	N	AEFBI	0.121403	0.23605	N	-1.2777586872161	0.03944	0.1771396	-1.30463500787126	0.04370	0.2059634	0.97379884224457	0.29487	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.58	-4.86	0.02902	-0.975000	0.03900	-2.028000	0.04322	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.586000	0.31041	0.0:0.8063:0.0:0.1937	13.153	0.58923	862	0.33134	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.010101	0.000000	0.005848	0.000000	0.008621	0.012195	0.003788	0.05	1008.43	33	chr1	17623042	.	C	T	1008.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.61;DP=393;ExcessHet=0;FS=7.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.535;SOR=0.645	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1074	9	0	1	0
chr1	18481474	18481474	C	T	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.C493T:p.P165S	.	424	1095	3	0	0	3	0.00136799	.	.	.	2239626	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.0188699027961	0.0005	0.000199681	0.0004	0.0002	0	0	0	0.0006	0	6.075e-05	0.0003363	52	154602	rs201860136	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.763e-05	8.211e-05	2.987e-05	2.236e-05	0.0068	0	0	0.0002	0.0001	0.0007	6.956e-05	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0001	8.876e-05	0	0	6.537e-05	0.0069	0	0	0	0.0002	0.0005	0.0002	0.129	0.26852	T	0.309	0.19782	T	0.046	0.21875	B	0.017	0.18140	B	0.455589	0.12454	U	0.610754	0.999984	0.18198	N	1.3	0.32576	L	-0.72	0.72994	T	-0.27	0.11366	N	0.04	0.01347	-0.9471	0.41465	T	0.175	0.51943	T	10	0.00295344	0.00048	T	0.01887	0.41071	T	0.069	0.20116	.	.	0.50557994651	0.50197	0.14627528083064015	0.14549	0.393107289621	0.40487	0.344538927078	0.17115	T	0.002673	0.02065	T	-0.306032	0.08102	T	-0.385222	0.35110	T	0.0389174842230694	0.03495	T	0.510949	0.16331	T	0.029496038	0.02453	0.07278899	0.15744	0.029496038	0.02453	0.07278899	0.15744	-3.865	0.21779	T	.	.	0.095	0.14797	B	.	.	0.718616	0.10876	7.551	0.95418151404586626	0.26892	0.21271	0.21342	N	AEFDBHCIJ	0.134784	0.25490	N	-0.643637533351912	0.17646	0.9097714	-0.575364127257759	0.20136	1.08352	0.999949113671868	0.47345	0.386957	0.05904	2	0.574621	0.32753	0	0.137785	0.03908	3	0.564101	0.26826	0	.	.	4.81	3.87	0.43823	0.957000	0.28812	-0.045000	0.12619	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.0:0.7046:0.1886:0.1068	6.059	0.19056	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2101.43	179	chr1	18481474	.	C	T	2101.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=1259;ExcessHet=0;FS=1.179;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.41;SOR=0.796	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	9	0	1	0
chr1	18482857	18482857	G	C	exonic	KLHDC7A	.	nonsynonymous SNV	KLHDC7A:NM_152375:exon1:c.G1876C:p.A626P	.	431	1065	24	2	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	.	0.0002	0.0339457	0.0195	0.0005	0.0012	0.0001	0	0.0002	0.0176	0.1335	0.0157695	2438	154602	rs137875112	0.0077	0.0077	0.0043	0.0111	0.1216	0.0076	0.0075	0.1197	0.1189	0.0005	0.0002	0	7.561e-05	0	0.0038	0.0002	0.0082	0.1216	0.0045	0.0045	0.0025	0.0065	0.1363	0.0042	0.0041	0.1277	0.1243	0.0002	0	0.0003	0	0.0006	0	0	7.35e-05	0.0019	0.1363	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.67	0.78151	M	-0.28	0.67543	T	-4.99	0.82221	D	0.276	0.31253	0.069	0.83603	D	0.508	0.81498	D	10	0.002309084	0.00034	T	.	.	.	0.669	0.87722	.	.	.	.	0.855593517401203	0.85522	1.34841275358	0.84028	0.710741639137	0.68701	T	0.134846	0.46632	T	-0.162255	0.26414	T	0.101277	0.76992	D	0.0808052761480006	0.10090	T	0.818018	0.47523	T	0.93457544	0.94697	0.8894984	0.94231	0.93457544	0.94697	0.8894984	0.94231	-10.349	0.75975	D	.	.	0.383	0.58588	A	.	.	5.220644	0.87614	29.3	0.99748549339016168	0.84077	0.99423	0.95841	D	AEFDBHI	0.957521	0.97676	D	0.813802399230385	0.86962	9.056622	0.76634760555131	0.87372	9.199578	0.999999958725453	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	8.019000	0.89128	11.799000	0.96598	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	17.059	0.86417	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.000000	0.000000	0.011696	0.050000	0.000000	0.003049	0.068182	0.05	1642.43	40	chr1	18482857	.	G	C	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=522;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.728;SOR=0.801	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,110,1288	9	0	1	0
chr1	18877457	18877457	C	T	exonic	ALDH4A1	.	nonsynonymous SNV	ALDH4A1:NM_001161504:exon10:c.G916A:p.G306R,ALDH4A1:NM_001319218:exon10:c.G1096A:p.G366R,ALDH4A1:NM_003748:exon10:c.G1096A:p.G366R,ALDH4A1:NM_170726:exon10:c.G1096A:p.G366R	Hyperprolinemia, type II, Autosomal recessive	0	1453	65	4	0	73	0.0245049	.	.	.	690430	not_provided|Hyperprolinemia_type_2	MedGen:C3661900|MONDO:MONDO:0009401,MedGen:C2931835,OMIM:239510,Orphanet:79101	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	.	0.001	0.00179712	0.0075	0.0005	0.0055	0	0.0012	0.0062	0.0065	0.0170	0.0027813	430	154602	rs41306567	0.0022	0.0022	0.0018	0.0026	0.0133	0.0021	0.0021	0.0127	0.0124	0.0004	0.0016	0.0032	2.573e-05	0.0001	0.0094	0.0015	0.0027	0.0133	0.0017	0.0017	0.0014	0.0020	0.0110	0.0015	0.0015	0.0086	0.0078	0.0004	0	0.0029	0.0014	0	0	0.0102	0.0020	0.0028	0.0110	0.133	0.26409	T	0.135	0.36901	T	0.001	0.07471	B	0.009	0.14300	B	0.663870	0.10403	N	0.849423	0.791045	0.34620	D	0.155	0.08919	N	1.59	0.28836	T	0.42	0.05503	N	0.32	0.38027	-1.0269	0.21462	T	0.044	0.18742	T	10	0.007830828	0.00178	T	.	.	.	0.038	0.09825	0.412	0.44887	0.262662153117	0.25859	0.688120731099813	0.68752	0.164871079818	0.18598	0.291973412037	0.09209	T	0.055247	0.29952	T	-0.505176	0.00534	T	-0.487396	0.23664	T	0.0081906171203606	0.00098	T	0.831217	0.49813	T	0.22828704	0.45545	0.15461615	0.36279	0.23813418	0.46687	0.12986113	0.31215	-3.624	0.35202	T	.	.	0.141	0.30971	B	.;.;.;.	.;.;.;.	2.596631	0.33695	19.42	0.98291500001102539	0.39954	0.80761	0.40317	D	AEFBI	0.355282	0.44707	N	-0.584069613298834	0.19427	1.016747	-0.409398648436248	0.24722	1.355339	0.17949397804824	0.17851	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.52	2.65	0.30588	1.723000	0.37675	2.747000	0.34506	-0.193000	0.09282	0.999000	0.42656	0.998000	0.33993	0.915000	0.45038	0.0:0.8248:0.0:0.1752	9.567	0.38570	952	0.10565	Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014691	0.010417	0.010899	0.020468	0.000000	0.008621	0.012270	0.026515	0.1	2835.14	65	chr1	18877457	.	C	T	2835.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.326;DP=620;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.32;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	8	0	2	0
chr1	19219446	19219446	C	T	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon22:c.G2773A:p.V925I,EMC1:NM_001271427:exon23:c.G2836A:p.V946I,EMC1:NM_001271428:exon23:c.G2836A:p.V946I,EMC1:NM_015047:exon23:c.G2839A:p.V947I,EMC1:NM_001375820:exon24:c.G2848A:p.V950I,EMC1:NM_001375821:exon24:c.G2845A:p.V949I	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	952160	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.015222943991	.	.	4.118e-05	0	0	0	0	7.492e-05	0	0	3.88e-05	6	154602	rs766662046	5.404e-05	5.404e-05	6.262e-05	4.538e-05	0.0010	4.41e-05	4.082e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0	0	0.0010	5.665e-05	6.623e-05	3.478e-05	3.947e-05	3.939e-05	5.145e-05	2.693e-05	0.0002	1.717e-05	1.131e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0.0002	0.202	0.21385	T	0.208	0.27414	T	0.905	0.52538	P	0.416	0.52930	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.935	0.23595	L	1.88	0.24085	T	-0.47	0.15178	N	0.416	0.45709	-1.1550	0.00884	T	0.084	0.32786	T	10	0.2976151	0.47322	T	0.015223	0.35825	T	0.118	0.32913	.	.	0.492336895404	0.48868	0.3599753228570831	0.35911	0.775270139995	0.64992	0.833569467068	0.87110	D	0.007348	0.06762	T	-0.217333	0.18358	T	-0.324259	0.42105	T	0.214260074079335	0.21173	T	0.964104	0.86689	D	0.12206478	0.28691	0.13064997	0.31390	0.12206478	0.28691	0.13064997	0.31389	-5.893	0.46762	T	0.4191486835751549	0.50818	0.123	0.25753	B	.;.;.	.;.;.	3.495700	0.48878	22.7	0.99832761371151135	0.91456	0.96358	0.68748	D	AEFDBCI	0.859839	0.77759	D	0.480725989598913	0.65964	4.889416	0.590910759451375	0.74284	6.111379	0.999999999999642	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	7.537000	0.80946	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:1.0:0.0:0.0	19.188	0.93638	809	0.43032	ER membrane protein complex subunit 1, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1195.43	34	chr1	19219446	.	C	T	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=439;ExcessHet=0;FS=2.39;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.36;SOR=0.965	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1092	9	0	1	0
chr1	19243991	19243991	G	A	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271427:exon3:c.C245T:p.T82M,EMC1:NM_001271428:exon3:c.C245T:p.T82M,EMC1:NM_001375820:exon3:c.C245T:p.T82M,EMC1:NM_001375821:exon3:c.C245T:p.T82M,EMC1:NM_015047:exon3:c.C245T:p.T82M	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	216792	EMC1-related_disorder|not_provided|Cerebellar_atrophy,_visual_impairment,_and_psychomotor_retardation%3B|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MONDO:MONDO:0014811,MedGen:C4225172,OMIM:616875|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.148	0.0121936954801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs869320625	2.189e-05	2.189e-05	2.45e-05	1.925e-05	2.698e-05	1.584e-05	1.356e-05	1.914e-05	1.661e-05	0	0	0	0	0	0	2.698e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50676	D	0.186	0.28860	T	0.988	0.66517	D	0.828	0.59497	P	0.000006	0.62929	D	0.143658	0.996625	0.81001	D	1.67	0.42885	L	0.89	0.45636	T	-1.18	0.31576	N	0.816	0.81162	-0.9312	0.43963	T	0.172	0.51484	T	10	0.7221659	0.73735	D	0.012194	0.30540	T	0.148	0.39182	.	.	0.77875509527	0.77672	0.46665215934089405	0.46584	0.97207340511	0.73401	0.499712109566	0.38788	T	0.015148	0.12759	T	-0.151847	0.28022	T	-0.35904	0.38163	T	0.768307268619537	0.44338	D	0.966103	0.87544	D	0.048998058	0.08630	0.061029535	0.11720	0.05895431	0.11923	0.061029535	0.11720	-7.445	0.57243	T	.	.	0.089	0.25462	B	.;.	.;.	4.771348	0.77247	26.7	0.99878478987883057	0.95491	0.97402	0.74521	D	AEFBI	0.477328	0.52036	N	0.599481369089772	0.73143	5.918114	0.636163549955684	0.77583	6.707588	0.974983052718382	0.29592	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	5.08	0.68373	4.929000	0.63156	8.532000	0.77460	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:0.1379:0.862:0.0	15.580	0.76171	754	0.51307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1350.43	34	chr1	19243991	.	G	A	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.147;DP=451;ExcessHet=0;FS=4.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.114;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1176	9	0	1	0
chr1	19643396	19643396	A	G	exonic	NBL1	.	nonsynonymous SNV	NBL1:NM_182744:exon1:c.A85G:p.R29G	.	.	.	.	.	.	.	.	0.9013	0.534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00226708798022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.161	0.31326	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.56	0.17003	N	0.05	0.02179	-1.0173	0.24592	T	0.042	0.17952	T	7	0.06123826	0.07646	T	0.002267	0.04342	T	0.010	0.01040	0.333	0.32005	0.201204373187	0.19734	0.6965960178630147	0.69600	1.27943491311	0.82487	0.213999539614	0.00993	T	.	.	.	-0.375335	0.03333	T	-0.776919	0.02548	T	0.0894212839268766	0.11148	T	0.464953	0.13579	T	.	.	.	.	.	.	.	.	-3.642	0.18466	T	.	.	0.08	0.07793	B	.	.	1.187502	0.15784	12.10	0.98060356496932422	0.37944	0.00344	0.01781	N	ALL	0.030951	0.03213	N	-0.604433948224878	0.18811	0.9795805	-0.863471969895292	0.12964	0.6699147	0.999999999999996	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.35	-2.54	0.05941	0.151000	0.16101	-0.727000	0.07679	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.636000	0.32315	0.4464:0.2126:0.341:0.0	3.699	0.07907	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	680.43	34	chr1	19643396	.	A	G	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.08;DP=385;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.718;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	9	0	1	0
chr1	19906461	19906461	C	T	exonic	OTUD3	.	stopgain	OTUD3:NM_015207:exon7:c.C865T:p.R289X	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0002	0	0.0011	0	0.0002	0	0.0011	0.0003	0.0001358	21	154602	rs191701178	4.858e-05	4.857e-05	4.357e-05	5.364e-05	0.0009	3.927e-05	3.605e-05	0.0007	0.0006	0	0.0009	0	2.519e-05	1.872e-05	0.0003	3.598e-06	6.625e-05	0.0002	2.628e-05	2.625e-05	1.285e-05	4.032e-05	0.0002	8.14e-06	5.14e-06	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.493229	0.12033	N	0.762817	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105051	0.64834	D	0.31893	0.89045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.290974	0.96361	36	0.99586033747463643	0.73336	0.25576	0.22740	N	AEFDBI	0.079608	0.16082	N	0.383171811175741	0.60509	4.240671	0.176803601391542	0.48580	3.071915	1.78624942172077E-4	0.05786	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.78	2.43	0.28797	0.425000	0.21065	3.018000	0.35990	0.594000	0.32500	0.003000	0.16062	0.968000	0.29604	0.994000	0.71098	0.2794:0.4847:0.2359:0.0	8.687	0.33407	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2548.43	33	chr1	19906461	.	C	T	2548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=560;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.11;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	9	0	1	0
chr1	20175005	20175008	ACCT	-	exonic	PLA2G2C	.	frameshift deletion	PLA2G2C:NM_001316722:exon3:c.178_179del:p.S60Pfs*51,PLA2G2C:NM_001367969:exon3:c.178_179del:p.R60Afs*53	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.00419329	0.0012	0.0135	0.0006	0	0	0	0.0011	0	0.0001537	4	26028	rs370008327	0.0003	0.0003	0.0004	0.0003	0.0129	0.0003	0.0003	0.0119	0.0115	0.0129	0.0005	0	0	0	0.0005	3.6e-06	0.0008	0	0.0034	0.0034	0.0035	0.0033	0.0116	0.0031	0.0030	0.0107	0.0104	0.0116	0	0.0014	0	0	0	0	0	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2662.39	43	chr1	20175004	.	CACCT	C	2662.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=614;ExcessHet=0;FS=7.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.351;SOR=1.213	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr1	20501054	20501054	C	T	exonic	MUL1	.	nonsynonymous SNV	MUL1:NM_024544:exon4:c.G695A:p.R232K	.	425	1094	3	0	0	3	0.00136924	.	.	.	2335129	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00304358720837	7.7e-05	.	0.0002	9.656e-05	0.0010	0	0	0.0002	0	0.0002	0.0002005	31	154602	rs143833510	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.501e-05	0.0003	0.0002	0	0.0004	0.0009	0	0	0.0005	9.083e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0.0004	7.569e-05	6.275e-05	7.285e-05	4.239e-05	2.404e-05	0	0.0002	0.0003	0	0	0.0034	0.0001	0.0009	0.0004	0.619	0.05325	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.007788	0.31194	N	0.436713	0.973599	0.39036	D	-0.475	0.02701	N	2.06	0.20523	T	0.48	0.03041	N	0.026	0.00527	-1.0212	0.23324	T	0.025	0.10598	T	10	0.009372652	0.00212	T	0.003044	0.06547	T	0.018	0.03083	.	.	0.0551355673512	0.04727	0.24108691139465793	0.24022	0.364596557504	0.38073	0.431156933308	0.29366	T	0.012099	0.10690	T	-0.613871	0.00120	T	-0.797594	0.01964	T	0.00561332765786522	0.00061	T	0.671133	0.27986	T	0.04408985	0.06987	0.051787104	0.08404	0.04408985	0.06987	0.051787104	0.08403	-3.38	0.14788	T	.	.	0.063	0.01449	B	.	.	0.649636	0.10179	6.922	0.87917283541257307	0.17578	0.20700	0.21137	N	AEFDBCI	0.116320	0.22834	N	-0.881419298240098	0.11285	0.5437851	-0.717611226492627	0.16522	0.8744346	0.184506649209992	0.17917	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.16	2.31	0.27816	0.635000	0.24318	0.136000	0.15109	-0.182000	0.10109	0.043000	0.21118	0.840000	0.27292	0.992000	0.67800	0.0:0.7048:0.0:0.2952	9.092	0.35778	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	3553.14	117	chr1	20501054	.	C	T	3553.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.56;DP=535;ExcessHet=0.2348;FS=2.896;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=1.49;SOR=0.517	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	8	0	2	0
chr1	20633926	20633926	G	T	exonic	PINK1	.	nonsynonymous SNV	PINK1:NM_032409:exon1:c.G378T:p.Q126H	Parkinson disease 6, early onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.256082686268	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1051163566	1.256e-05	1.642e-05	1.523e-05	9.847e-06	1.635e-05	7.85e-06	6.48e-06	1.022e-05	8.43e-06	0	0	0	0	0	0	1.635e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.155	0.31936	T	0.002	0.09854	B	0.003	0.08700	B	0.692323	0.06154	N	1.160920	0.917051	0.36569	D	1.955	0.52871	M	-0.04	0.63240	T	-1.08	0.28084	N	0.143	0.14338	-0.9847	0.33903	T	0.129	0.43848	T	10	0.17743614	0.32778	T	0.256083	0.89316	D	0.021	0.04004	0.432	0.48171	0.735110055148	0.73274	0.6335455018251716	0.63288	0.295338444936	0.31937	0.471088498831	0.34830	T	0.152839	0.49342	T	-0.132547	0.31084	T	-0.428171	0.30144	T	0.0723272159128514	0.08973	T	0.506749	0.16047	T	0.13000326	0.30346	0.06602666	0.13465	0.13000326	0.30346	0.06602666	0.13465	-5.125	0.38170	T	0.21536090571961305	0.28952	0.200	0.42302	B	.	.	2.427245	0.31222	18.68	0.97648982898232373	0.35125	0.67687	0.33523	D	ALL	0.226459	0.35041	N	-0.592630086542601	0.19167	1.001033	-0.489981026875894	0.22428	1.218152	0.999999891205496	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	3.87	1.9	0.24770	0.333000	0.19512	-0.030000	0.12807	0.518000	0.23583	0.527000	0.27166	0.000000	0.08366	0.989000	0.64315	0.1207:0.2167:0.6626:0.0	4.989	0.13551	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	854.43	76	chr1	20633926	.	G	T	854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.707;DP=403;ExcessHet=0;FS=3.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.994;SOR=0.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	9	0	1	0
chr1	20639986	20639986	C	T	exonic	PINK1	.	nonsynonymous SNV	PINK1:NM_032409:exon3:c.C770T:p.T257I	Parkinson disease 6, early onset, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	361485	Autosomal_recessive_early-onset_Parkinson_disease_6|not_provided	MONDO:MONDO:0011613,MedGen:C1853833,OMIM:605909,Orphanet:2828|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.061028962444	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	9.038e-05	5.82e-05	9	154602	rs370906995	5.643e-05	5.609e-05	5.061e-05	6.232e-05	0.0007	4.637e-05	4.261e-05	0.0002	0.0001	0	4.576e-05	0	0	0	0.0007	5.774e-05	0.0001	5.92e-05	5.914e-05	5.91e-05	3.854e-05	8.07e-05	0.0002	3.077e-05	2.21e-05	2.846e-05	1.858e-05	2.413e-05	0	6.544e-05	0	0	0	0	7.349e-05	0.0005	0.0002	0.257	0.16738	T	0.203	0.27325	T	0.001	0.07471	B	0.005	0.11217	B	0.092711	0.20260	N	0.549745	0.999995	0.08975	N	0.89	0.21648	L	-0.86	0.74477	T	-0.97	0.25770	N	0.194	0.21319	-0.8512	0.51885	T	0.247	0.61670	T	10	0.09409064	0.16702	T	0.061029	0.68199	D	0.101	0.28911	.	.	0.760246624658	0.75806	0.6426560877212691	0.64200	0.186505350035	0.20959	0.331797361374	0.15206	T	0.102931	0.41112	T	-0.32244	0.06700	T	-0.46427	0.26135	T	0.0316480323672295	0.02250	T	0.531447	0.17660	T	0.06547155	0.13995	0.044564288	0.05802	0.087983996	0.20509	0.048041884	0.07051	-4.289	0.28023	T	0.18001458181815472	0.23148	0.097	0.16010	B	.	.	1.159768	0.15487	11.89	0.90546266662979746	0.19802	0.15753	0.19065	N	AEFBCI	0.290719	0.40203	N	-0.699226847813529	0.16044	0.813966	-0.689914927246753	0.17212	0.914204	0.999983174564548	0.51787	0.743674	0.98306	0	0.69481	0.67340	0	0.630245	0.45026	0	0.691587	0.68394	0	.	.	5.73	3.53	0.39533	0.364000	0.20053	0.236000	0.16249	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.8019:0.0:0.1981	8.817	0.34159	768	0.49510	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1469.43	108	chr1	20639986	.	C	T	1469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.43;DP=420;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=3.36;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	9	0	1	0
chr1	20644515	20644515	C	G	exonic	PINK1	.	nonsynonymous SNV	PINK1:NM_032409:exon4:c.C802G:p.L268V	Parkinson disease 6, early onset, Autosomal recessive	1	1519	1	1	0	3	0.000986518	.	.	.	361486	not_provided|Autosomal_recessive_early-onset_Parkinson_disease_6	MedGen:C3661900|MONDO:MONDO:0011613,MedGen:C1853833,OMIM:605909,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.555	0.0512265757303	7.7e-05	.	9.885e-05	0	0	0.0002	0	0.0001	0	6.057e-05	9.06e-05	14	154602	rs372280083	6.704e-05	6.704e-05	6.398e-05	7.013e-05	0.0007	5.628e-05	5.171e-05	0.0002	0.0001	0	6.708e-05	0	5.038e-05	0	0.0007	5.755e-05	0.0003	6.956e-05	6.564e-05	6.561e-05	3.854e-05	9.396e-05	0.0004	3.513e-05	2.614e-05	6.83e-05	2.858e-05	0	0	6.533e-05	0	0.0004	0	0	7.349e-05	0.0005	0.0002	0.074	0.34621	T	0.089	0.40426	T	0.924	0.51285	P	0.714	0.54635	P	0.000048	0.53742	D	0.077090	0.999568	0.47592	D	1.51	0.38214	L	-1.02	0.76300	T	-2.02	0.46503	N	0.747	0.74644	-0.1149	0.79753	T	0.464	0.79279	T	10	0.7522331	0.75721	D	0.051227	0.64572	D	0.555	0.81659	.	.	0.900841570737	0.89985	0.6058041798009055	0.60511	0.58745684734	0.54325	0.4311850667	0.29371	T	0.168822	0.51597	T	-0.00706771	0.50676	T	-0.0112602	0.69602	D	0.143003748122985	0.16530	T	0.706929	0.31753	T	0.06390097	0.13503	0.10545503	0.25349	0.05974299	0.12177	0.10213529	0.24469	-6.234	0.48197	T	0.2370713321905943	0.32103	0.110	0.21353	B	.	.	2.175029	0.27721	17.56	0.99679957193399049	0.79174	0.76581	0.37570	D	AEFBI	0.512331	0.54059	D	0.233293259742276	0.52819	3.453726	0.245500637034315	0.52392	3.414479	0.998028602421739	0.36327	0.706548	0.73137	0	0.550933	0.16991	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.85	4.94	0.64645	0.606000	0.23891	1.807000	0.28930	-1.651000	0.00826	0.429000	0.26401	0.980000	0.30356	0.720000	0.34772	0.0:0.9143:0.0:0.0857	10.953	0.46551	763	0.50172	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	2049.43	148	chr1	20644515	.	C	G	2049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.622;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.576;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	9	0	1	0
chr1	20779841	20779841	T	C	exonic	HP1BP3	.	nonsynonymous SNV	HP1BP3:NM_001376792:exon2:c.A53G:p.K18R,HP1BP3:NM_001376793:exon2:c.A53G:p.K18R,HP1BP3:NM_001376794:exon2:c.A53G:p.K18R,HP1BP3:NM_001376797:exon2:c.A53G:p.K18R,HP1BP3:NM_001372052:exon3:c.A167G:p.K56R,HP1BP3:NM_001376787:exon3:c.A167G:p.K56R,HP1BP3:NM_001376788:exon3:c.A167G:p.K56R,HP1BP3:NM_001376789:exon3:c.A167G:p.K56R,HP1BP3:NM_001376790:exon3:c.A167G:p.K56R,HP1BP3:NM_001376791:exon3:c.A53G:p.K18R,HP1BP3:NM_001376795:exon3:c.A167G:p.K56R,HP1BP3:NM_001376796:exon3:c.A167G:p.K56R,HP1BP3:NM_016287:exon3:c.A167G:p.K56R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0115830826406	.	.	8.841e-06	0	0	0	0	0	0	6.602e-05	6.5e-06	1	154602	rs771841842	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3.86e-06	1.44e-06	0	0	0	0	0	0.0002	8.995e-07	0	2.325e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.91255	D	0.239	0.92824	T	0.956	0.73220	P	0.931	0.82059	D	0.000104	0.50451	D	0.168594	0.992564	0.46519	D	0.695	0.17993	N	0.69	0.51714	T	-0.46	0.62343	N	0.391	0.49055	-0.7246	0.59234	T	0.195	0.54913	T	10	0.19331	0.35095	T	0.011583	0.29347	T	0.129	0.35316	0.138	0.04187	0.427830603989	0.42401	0.07185918577436716	0.07122	0.917637757724	0.71311	0.5307046175	0.43134	T	0.122433	0.44610	T	-0.165895	0.25858	T	-0.294545	0.45298	T	0.360626358189284	0.27434	T	0.794521	0.44465	T	0.09443123	0.22201	0.09273114	0.21867	0.09443123	0.22200	0.09273114	0.21867	-4.214	0.27212	T	.	.	0.081	0.21049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.522633	0.70923	25.6	0.99641768282972154	0.76695	0.94440	0.61173	D	AEFDBI	0.471916	0.51725	N	0.545536774146038	0.69811	5.410313	0.597123282057659	0.74733	6.187488	0.999999937211999	0.74766	0.736574	0.97449	0	0.723133	0.82719	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	3.545000	0.53401	6.178000	0.54590	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.116	0.72075	839	0.37672	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	365.43	41	chr1	20779841	.	T	C	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.788;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.669;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,945	9	0	1	0
chr1	21245077	21245077	T	C	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon8:c.A1154G:p.N385S,ECE1:NM_001113349:exon9:c.A1181G:p.N394S,ECE1:NM_001113348:exon10:c.A1142G:p.N381S,ECE1:NM_001397:exon10:c.A1190G:p.N397S	.	0	1513	8	1	0	10	0.00329381	.	.	.	761541	not_provided|ECE1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	.	0.00259585	0.0013	0	0.0003	0	0	0.0003	0.0011	0.0079	0.0011902	184	154602	rs145301395	0.0007	0.0007	0.0005	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	2.987e-05	0.0002	0.0008	0	0	0.0026	0.0002	0.0009	0.0077	0.0004	0.0004	0.0003	0.0005	0.0056	0.0003	0.0003	0.0039	0.0034	2.405e-05	0	0.0012	0.0003	0	0	0	0.0002	0.0005	0.0056	0.021	0.50676	D	0.115	0.40747	T	0.043	0.21573	B	0.016	0.21085	B	0.000000	0.84330	D	0.087520	0.999564	0.47592	D	1.08	0.27187	L	-0.69	0.72678	T	-1.61	0.39314	N	0.642	0.66615	-0.7970	0.55321	T	0.221	0.58459	T	10	0.012654036	0.00271	T	.	.	.	0.116	0.32463	.	.	0.683380910013	0.68067	0.2869067786071827	0.28603	0.51859878358	0.49709	0.37147206068	0.21044	T	0.337245	0.70666	T	-0.364525	0.03881	T	-0.291826	0.45582	T	0.0445283127503575	0.04517	T	0.953005	0.88325	D	0.22118284	0.44690	0.12763987	0.30722	0.2361329	0.46459	0.13934748	0.33250	-5.232	0.41111	T	0.15735805619011872	0.18996	0.132	0.31931	B	.;.;.;.;.;.	.;.;.;.;.;.	3.262486	0.44627	22.0	0.99678396845201622	0.79108	0.89477	0.49966	D	AEFDBHCI	0.688451	0.64945	D	-0.160813510615294	0.34777	1.989138	0.0108562006493672	0.40217	2.396702	0.999999993438619	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	5.55	4.41	0.52588	4.727000	0.61687	4.163000	0.42223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1483:0.8517	11.707	0.50866	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	971.43	87	chr1	21245077	.	T	C	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.551;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.608;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1198	9	0	1	0
chr1	21847474	21847474	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon62:c.C8047T:p.R2683W,HSPG2:NM_005529:exon62:c.C8044T:p.R2682W	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	279337	not_specified|Schwartz-Jampel_syndrome_type_1|Lethal_Kniest-like_syndrome|Connective_tissue_disorder|Schwartz-Jampel_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0100435,MedGen:C4551479,OMIM:255800|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.549	0.102582270378	0.0019	0.000199681	0.0018	0.0004	0.0003	0	0.0024	0.0028	0.0011	0.0004	0.0018176	281	154602	rs142458572	0.0027	0.0027	0.0026	0.0027	0.0135	0.0026	0.0026	0.0111	0.0102	0.0004	0.0007	0.0044	0	0.0018	0.0135	0.0030	0.0029	0.0003	0.0019	0.0019	0.0021	0.0016	0.0031	0.0017	0.0016	0.0027	0.0026	0.0004	0	0.0008	0.0040	0	0.0015	0.0102	0.0031	0.0047	0.0004	0.017	0.51248	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.002521	0.36425	N	0.000000	0.999299	0.46578	D	2.62	0.76659	M	-0.39	0.69158	T	-4.61	0.79060	D	0.834	0.82964	0.177	0.85513	D	0.538	0.82960	D	10	0.14647627	0.27769	T	0.102582	0.77612	D	0.549	0.81310	.	.	0.812045843367	0.81027	0.43439531511610924	0.43356	0.795164481013	0.66010	0.541322946548	0.44632	T	0.550718	0.84783	D	-0.0875025	0.38489	T	0.098796	0.76828	D	0.0298921028318087	0.01973	T	0.90161	0.65783	D	0.25616804	0.48655	0.19854246	0.43692	0.25616804	0.48655	0.19854246	0.43691	-8.79	0.66335	D	.	.	0.178	0.38889	B	.	.	5.194660	0.87129	29.1	0.9988925561517159	0.96359	0.87433	0.46971	D	AEFBCI	0.526241	0.54868	D	0.554004034735775	0.70325	5.485179	0.429565922219069	0.63415	4.574748	0.00419080014304676	0.10449	0.67177	0.52595	0	0.633656	0.55848	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.5	2.4	0.28568	3.152000	0.50375	4.188000	0.42384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:0.5659:0.4341	12.463	0.55083	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.010870	0.017647	0.000000	0.017241	0.003049	0.000000	0.05	945.43	35	chr1	21847474	.	G	A	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.027;DP=407;ExcessHet=0;FS=5.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.658;SOR=1.24	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1296	9	0	1	0
chr1	21875990	21875990	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon24:c.C3059T:p.P1020L,HSPG2:NM_005529:exon24:c.C3056T:p.P1019L	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	1	1482	39	0	0	39	0.012987	.	.	.	192986	Connective_tissue_disorder|not_provided|not_specified|Schwartz-Jampel_syndrome	MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.310	.	0.0099	0.00259585	0.0065	0.0019	0.0041	0	0.0011	0.0104	0.0011	0.0010	0.0069339	1072	154602	rs62642528	0.0098	0.0098	0.0099	0.0096	0.0229	0.0096	0.0096	0.0197	0.0185	0.0018	0.0048	0.0027	5.038e-05	0.0020	0.0229	0.0118	0.0075	0.0014	0.0061	0.0061	0.0065	0.0056	0.0110	0.0057	0.0056	0.0104	0.0101	0.0016	0.0022	0.0037	0.0020	0	0.0021	0.0204	0.0110	0.0061	0.0004	0.01	0.56456	D	0.012	0.63918	D	1.0	0.90584	D	0.999	0.92359	D	0.001331	0.39379	N	0.000000	0.999993	0.08975	N	1.9	0.50570	L	-1.04	0.76561	T	-5.86	0.88561	D	0.796	0.79214	-0.4677	0.69805	T	0.401	0.75202	T	10	0.020259649	0.00464	T	.	.	.	0.310	0.63162	.	.	0.794784060216	0.79287	0.3879942276230261	0.38714	0.219995407713	0.24543	0.377139627934	0.21850	T	0.324577	0.69537	T	-0.414202	0.01864	T	-0.352154	0.38958	T	0.0743849599403005	0.09253	T	0.782822	0.41925	T	0.14985687	0.34145	0.16783574	0.38699	0.14985687	0.34144	0.16783574	0.38698	-5.995	0.46238	T	.	.	0.091	0.13127	B	.	.	3.609643	0.51028	23.0	0.99333071637870607	0.59856	0.24524	0.22420	N	AEFBCI	0.178904	0.30618	N	0.126691278791315	0.47710	2.992968	0.0476170099534832	0.41957	2.529515	0.940289837044212	0.27425	0.67177	0.52595	0	0.610034	0.51514	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.51	3.46	0.38718	1.180000	0.31614	6.409000	0.55591	-0.153000	0.12021	0.003000	0.16062	1.000000	0.68203	0.015000	0.10482	0.0:0.3037:0.6963:0.0	13.284	0.59664	800	0.44535	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.010101	0.014946	0.029240	0.000000	0.025862	0.024390	0.011364	0.05	1225.43	81	chr1	21875990	.	G	A	1225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=425;ExcessHet=0;FS=1.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.578;SOR=1.014	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr1	21887447	21887447	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon8:c.G931A:p.E311K,HSPG2:NM_005529:exon8:c.G931A:p.E311K	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3166520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.0186821916866	.	.	8.265e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs200992640	8.893e-06	8.893e-06	9.53e-06	8.251e-06	1.079e-05	4.96e-06	3.82e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.806	0.03068	T	0.888	0.03152	T	0.0	0.02946	B	0.0	0.01387	B	0.480481	0.04978	N	1.376210	1	0.08975	N	-0.085	0.04774	N	-3.69	0.95317	D	0.28	0.04233	N	0.102	0.08506	-0.2433	0.76540	T	0.618	0.86535	D	10	0.054083526	0.05703	T	0.018682	0.40822	T	0.352	0.67326	0.491	0.57732	0.426084969639	0.42228	0.28324127350891165	0.28237	0.225619827505	0.25111	0.231754183769	0.02101	T	0.308387	0.68048	T	-0.0822328	0.39352	T	-0.18677	0.55893	T	0.0125637296587229	0.00209	T	0.788921	0.42853	T	0.04890592	0.08599	0.04576617	0.06232	0.04890592	0.08599	0.04576617	0.06231	-7.351	0.56558	T	.	.	0.060	0.00904	B	.	.	0.404490	0.07755	4.440	0.52620086053490323	0.04782	0.05690	0.11609	N	AEFDBCI	0.019896	0.00734	N	-1.36308495391848	0.02992	0.1329453	-1.29019578717665	0.04562	0.2154723	0.998196650023082	0.36560	0.67177	0.52595	0	0.633656	0.55848	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.09	-0.0238	0.13267	-0.780000	0.04759	-0.314000	0.10017	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.572000	0.30699	0.0:0.3433:0.0:0.6567	8.236	0.30787	775	0.48401	Low-density lipoprotein (LDL) receptor class A, conserved site|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2403.43	35	chr1	21887447	.	C	T	2403.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-1.097;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1098	9	0	1	0
chr1	21890602	21890602	C	T	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon4:c.G337A:p.E113K,HSPG2:NM_005529:exon4:c.G337A:p.E113K	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	863701	Chromosome_1p36_deletion_syndrome|Schwartz-Jampel_syndrome|Inborn_genetic_diseases|Lethal_Kniest-like_syndrome|not_provided	MONDO:MONDO:0011929,MeSH:C535362,MedGen:C1842870,OMIM:607872,Orphanet:1606|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0160572550652	0.0005	.	0.0002	0.0002	0	0	0	0.0004	0.0011	0	0.0002199	34	154602	rs144511257	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	8.963e-05	8.945e-05	0	0	0	0.0017	0.0006	0.0007	1.16e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0003	0	0	0	0.0034	0.0005	0.0005	0.0002	0.027	0.46513	D	0.006	0.70582	D	0.034	0.20480	B	0.007	0.12992	B	0.109312	0.19490	N	0.368285	0.995756	0.42840	D	1.555	0.39373	L	-1.03	0.76430	T	-2.03	0.46673	N	0.267	0.30233	-0.6255	0.63760	T	0.292	0.66345	T	10	0.11313155	0.21243	T	0.016057	0.37127	T	0.135	0.36572	.	.	0.745187905424	0.74289	0.647176457325919	0.64652	0.234190946907	0.25956	0.506859242916	0.39783	T	0.342255	0.71105	T	-0.290173	0.09619	T	-0.322525	0.42298	T	0.0196864850148132	0.00671	T	0.865813	0.56549	D	0.21319883	0.43692	0.15297145	0.35967	0.21319883	0.43692	0.15297145	0.35966	-2.75	0.07733	T	.	.	0.147	0.32372	B	.	.	3.188343	0.43307	21.7	0.99821508604437037	0.90414	0.92501	0.55860	D	AEFBCI	0.382408	0.46430	N	-0.10292264401696	0.37266	2.165605	0.0742020907979777	0.43257	2.63116	0.999999426586057	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.58	4.67	0.58089	2.831000	0.47845	2.199000	0.31271	0.599000	0.40250	0.989000	0.36753	0.977000	0.30130	0.997000	0.79791	0.0:0.9174:0.0:0.0826	12.262	0.53975	773	0.48803	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1402.43	37	chr1	21890602	.	C	T	1402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=458;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.92;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	9	0	1	0
chr1	21978396	21978396	G	A	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.G71A:p.R24H	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.319	0.0371692555097	7.7e-05	.	0.0002	9.612e-05	0	0	0.0008	0.0003	0	6.069e-05	0.000207	32	154602	rs141038744	0.0016	0.0024	0.0015	0.0017	0.0022	0.0016	0.0016	0.0019	0.0018	0.0004	0.0009	0.0011	0.0004	0.0034	0.0016	0.0016	0.0018	0.0022	0.0036	0.0049	0.0037	0.0034	0.0059	0.0033	0.0032	0.0054	0.0052	0.0008	0	0.0016	0.0023	0.0006	0.0044	0	0.0059	0.0033	0.0035	0.358	0.11994	T	0.229	0.25210	T	0.0	0.02946	B	0.0	0.01387	B	0.007306	0.01163	N	2.529540	1	0.08975	N	1.255	0.31814	L	-2.41	0.88533	D	0.6	0.02518	N	0.154	0.15888	-0.6321	0.63481	T	0.420	0.76556	T	10	0.039126813	0.02379	T	0.037169	0.57449	D	0.319	0.64112	.	.	0.0954503805726	0.09146	0.4556730093205391	0.45485	0.205366021206	0.22955	0.253240227699	0.04116	T	0.00303	0.02432	T	-0.0689393	0.41495	T	-0.336803	0.40707	T	0.0574381133510097	0.06760	T	0.0687931	0.00503	T	0.018113418	0.00333	0.022597525	0.00281	0.018113418	0.00333	0.022597525	0.00281	-5.191	0.38850	T	.	.	0.101	0.17615	B	.	.	0.472177	0.08418	5.173	0.87910613318515318	0.17573	0.00578	0.02610	N	AEFBI	0.085482	0.17329	N	-1.81953427079195	0.00499	0.02148352	-1.92661621036719	0.00433	0.01917433	0.994071141636979	0.33476	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	-10.2	0.00305	-0.243000	0.08933	-1.140000	0.06212	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1653:0.2878:0.5469:0.0	12.317	0.54285	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	485.43	37	chr1	21978396	.	G	A	485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=392;ExcessHet=0;FS=18.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.1;MQRankSum=-7.5;QD=8.23;ReadPosRankSum=-2.412;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1401:.	9	0	1	0
chr1	21978398	21978398	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.C73T:p.P25S	.	417	1095	10	0	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0100996723404	.	.	0.0002	0	0	0	0.0008	0.0002	0	6.068e-05	3.84e-05	1	26028	rs769262423	0.0014	0.0022	0.0013	0.0015	0.0021	0.0013	0.0013	0.0019	0.0018	0.0003	0.0009	0.0011	0.0003	0.0033	0.0016	0.0013	0.0017	0.0021	0.0035	0.0048	0.0036	0.0033	0.0057	0.0032	0.0031	0.0052	0.0051	0.0008	0	0.0015	0.0023	0.0006	0.0045	0	0.0057	0.0033	0.0038	0.052	0.39097	T	0.036	0.52060	D	0.001	0.07471	B	0.002	0.06944	B	0.000056	0.53742	D	0.127744	0.991764	0.23986	N	1.565	0.39561	L	2.31	0.16794	T	-5.7	0.87380	D	0.28	0.31702	-1.0466	0.15361	T	0.038	0.16548	T	10	0.08696371	0.14835	T	0.010	0.26235	T	0.094	0.27141	.	.	0.0611884634855	0.05136	0.7483825438036639	0.74784	0.166043844648	0.18736	0.356677532196	0.18901	T	0.028613	0.20688	T	-0.224454	0.17389	T	-0.560189	0.16359	T	0.120394064784545	0.14468	T	0.257074	0.04045	T	0.14659725	0.33551	0.17140582	0.39321	0.14659725	0.33551	0.17140582	0.39320	-5.632	0.43084	T	.	.	0.123	0.25850	B	.	.	1.775219	0.22574	15.68	0.97385492898801918	0.33696	0.28659	0.23614	N	AEFBI	0.252745	0.37236	N	-0.68952758415734	0.16319	0.8303565	-0.69475238898778	0.17090	0.90722	0.365341940087057	0.19817	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	4.17	0.48303	1.431000	0.34534	1.016000	0.23368	0.524000	0.24156	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.8383:0.1617:0.0	13.200	0.59185	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	485.43	37	chr1	21978398	.	C	T	485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=393;ExcessHet=0;FS=18.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.19;MQRankSum=-7.5;QD=8.23;ReadPosRankSum=-2.543;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1401:.	9	0	1	0
chr1	21978416	21978416	A	C	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon2:c.A91C:p.N31H	.	423	1089	10	0	0	10	0.00457038	.	.	.	2812452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.00896937710721	.	0.00319489	0.0012	0.0003	0.0024	0.0009	0.0017	0.0010	0.0022	0.0019	0.0014295	221	154602	rs138865928	0.0020	0.0028	0.0018	0.0021	0.0039	0.0019	0.0019	0.0036	0.0034	0.0012	0.0027	0.0030	0.0007	0.0037	0.0019	0.0017	0.0025	0.0039	0.0044	0.0054	0.0046	0.0042	0.0066	0.0041	0.0040	0.0061	0.0059	0.0016	0	0.0028	0.0029	0.0019	0.0048	0	0.0066	0.0048	0.0063	0.059	0.37536	T	0.051	0.47828	T	0.003	0.11197	B	0.025	0.20508	B	0.000001	0.62929	D	0.054773	0.969413	0.38726	D	2.375	0.68372	M	2.17	0.19020	T	-3.33	0.66206	D	0.498	0.53093	-1.0550	0.13040	T	0.072	0.29130	T	10	0.026186883	0.00791	T	0.008969	0.23631	T	0.145	0.38592	.	.	0.0806252709748	0.07271	0.71909276535124	0.71852	0.196614953336	0.22022	0.645078599453	0.59286	T	0.376937	0.74022	T	-0.528434	0.00392	T	-0.538619	0.18431	T	0.0555485125125992	0.06450	T	0.563244	0.19836	T	0.39449894	0.60350	0.30128324	0.56161	0.39449894	0.60350	0.30128324	0.56160	-8.037	0.61322	D	.	.	0.320	0.54514	B	.	.	3.541128	0.49734	22.8	0.989372278766526	0.48864	0.59085	0.30818	D	AEFGBI	0.535722	0.55423	D	-0.159271809040071	0.34843	1.993903	-0.080455807497522	0.36199	2.103598	0.00486843319821761	0.10742	0.497415	0.19182	0	0.59043	0.45803	0	0.468601	0.07175	0	0.491896	0.07777	0	.	.	5.1	5.1	0.68917	1.276000	0.32760	7.862000	0.71495	-0.117000	0.14459	0.003000	0.16062	1.000000	0.68203	0.787000	0.37188	1.0:0.0:0.0:0.0	12.832	0.57132	798	0.45050	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	177.43	37	chr1	21978416	.	A	C	177.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=382;ExcessHet=0;FS=8.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.45;MQRankSum=-6.857;QD=3.62;ReadPosRankSum=-3.264;SOR=2.215	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1401	9	0	1	0
chr1	21983722	21983722	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon5:c.C391T:p.R131C	.	425	1085	12	0	0	12	0.00549954	.	.	.	718664	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.532	.	0.0011	0.0173722	0.0096	0.0010	0.0008	0.0251	0.0002	0.0004	0.0133	0.0540	0.0082923	1282	154602	rs149805485	0.0042	0.0042	0.0027	0.0058	0.0533	0.0041	0.0041	0.0520	0.0514	0.0008	0.0003	0	0.0204	7.489e-05	0.0038	0.0003	0.0055	0.0533	0.0031	0.0031	0.0022	0.0041	0.0567	0.0029	0.0028	0.0512	0.0490	0.0011	0	0.0004	0	0.0247	0	0.0034	0.0002	0.0024	0.0567	0.019	0.50132	D	0.028	0.54934	D	1.0	0.90584	D	0.823	0.59197	P	0.100394	0.19889	N	0.488930	0.999999	0.08975	N	2.59	0.75718	M	-2.51	0.89293	D	-5.75	0.87760	D	0.464	0.50056	-0.2436	0.76532	T	0.468	0.79476	T	10	0.003702402	0.00068	T	.	.	.	0.532	0.80307	.	.	0.399889258716	0.39604	0.6047300115706986	0.60404	0.738108888405	0.63096	0.457349479198	0.32947	T	0.41845	0.77079	T	-0.211407	0.19182	T	-0.0369708	0.67906	D	0.0491754289312339	0.05354	T	0.918108	0.70532	D	0.19427396	0.41170	0.27008674	0.52896	0.19427396	0.41170	0.27008674	0.52895	-10.02	0.74032	D	.	.	0.415	0.60399	A	.;.	.;.	3.340982	0.46033	22.2	0.99582197117975779	0.73099	0.06319	0.12316	N	AEFBI	0.240755	0.36248	N	-0.389966078087591	0.25826	1.40482	-0.597886246141452	0.19547	1.04929	1.53145191743026E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.42	2.43	0.28797	-0.359000	0.07683	0.703000	0.20862	-1.365000	0.01177	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3509:0.6491:0.0:0.0	10.963	0.46608	772	0.48957	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.010101	0.001359	0.002924	0.000000	0.008621	0.003049	0.015152	0.05	2650.43	115	chr1	21983722	.	C	T	2650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.305;DP=1347;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.99;MQRankSum=-2.708;QD=13.12;ReadPosRankSum=-0.42;SOR=0.569	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	9	0	1	0
chr1	22511813	22511813	A	C	exonic	ZBTB40	.	nonsynonymous SNV	ZBTB40:NM_001330398:exon9:c.A1804C:p.T602P,ZBTB40:NM_014870:exon11:c.A2140C:p.T714P,ZBTB40:NM_001083621:exon12:c.A2140C:p.T714P	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0147998039284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.18434	T	0.126	0.36765	T	0.0	0.02946	B	0.001	0.04355	B	0.989794	0.08038	N	0.994717	1	0.08975	N	0.55	0.14455	N	-0.94	0.75325	T	-1.2	0.32791	N	0.103	0.15046	-0.9333	0.43650	T	0.189	0.54064	T	10	0.044253767	0.03361	T	0.015	0.35150	T	0.153	0.40148	0.116	0.02439	0.379193981924	0.37526	0.14638626159737997	0.14560	0.150298648537	0.16954	0.278579056263	0.07295	T	0.024018	0.18227	T	-0.223312	0.17542	T	-0.558548	0.16513	T	0.0359694212675095	0.02976	T	0.462854	0.13445	T	0.074280046	0.16658	0.09294639	0.21929	0.074280046	0.16658	0.09294639	0.21929	-3.297	0.13698	T	.	.	0.070	0.12181	B	.;.;.	.;.;.	1.257594	0.16549	12.61	0.28703041354361669	0.01487	0.14688	0.18534	N	AEFBI	0.183408	0.31073	N	-1.37546185883262	0.02869	0.1273322	-1.45491284814855	0.02726	0.1259007	0.0252566081396356	0.13636	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.73	-7.03	0.01428	-0.177000	0.09789	-0.042000	0.12656	-0.095000	0.16041	0.019000	0.19563	0.000000	0.08366	0.228000	0.22680	0.2375:0.3156:0.4469:0.0	9.161	0.36185	858	0.34001	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1657.43	43	chr1	22511813	.	A	C	1657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=467;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-2.743;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1089	9	0	1	0
chr1	22784429	22784429	C	T	exonic	EPHB2	.	nonsynonymous SNV	EPHB2:NM_001309192:exon3:c.C164T:p.T55M,EPHB2:NM_001309193:exon3:c.C164T:p.T55M,EPHB2:NM_004442:exon3:c.C164T:p.T55M,EPHB2:NM_017449:exon3:c.C164T:p.T55M	.	.	.	.	.	.	.	.	.	.	.	2733130	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.303	0.0107857874121	.	0.000199681	2.48e-05	0	8.675e-05	0	0	3.004e-05	0	0	2.59e-05	4	154602	rs202156735	3.557e-05	3.557e-05	4.084e-05	3.025e-05	0.0002	2.762e-05	2.501e-05	8.861e-05	6.427e-05	0	0.0002	0	0	0	0	3.327e-05	8.279e-05	2.319e-05	5.908e-05	5.905e-05	3.853e-05	8.054e-05	0.0003	3.074e-05	2.208e-05	8.868e-05	5.28e-05	2.405e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0	0.001	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.19	0.61577	M	3.84	0.03675	T	-2.76	0.58569	D	0.791	0.78737	-1.2266	0.00036	T	0.041	0.17827	T	10	0.50504863	0.61769	D	0.010786	0.27726	T	0.303	0.62400	.	.	0.539130046914	0.53565	0.4975187350104011	0.49672	1.3443435746	0.83939	0.795471489429	0.81274	T	0.006264	0.47589	T	-0.11981	0.33155	T	-0.140576	0.60068	T	0.605892956256866	0.36635	D	0.971703	0.89738	D	0.6522093	0.75482	0.29366016	0.55395	0.6522093	0.75483	0.29366016	0.55395	-9.517	0.71362	D	.	.	0.696	0.72787	P	.;.;.;.;.	.;.;.;.;.	5.741297	0.93333	33	0.99922273151202701	0.98852	0.97325	0.74040	D	AEFDBI	0.883030	0.81163	D	0.738289564540198	0.82140	7.689826	0.734670944976439	0.85008	8.454061	0.999999999902251	0.74766	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.844000	0.85149	7.686000	0.65553	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.435	0.87441	473	0.77910	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 2, ligand binding domain;.;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 2, ligand binding domain;.;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-B receptor 2, ligand binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1407.43	34	chr1	22784429	.	C	T	1407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.641;SOR=0.727	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,101,1314	9	0	1	0
chr1	22953111	22953111	C	T	exonic	LACTBL1	.	nonsynonymous SNV	LACTBL1:NM_001289974:exon8:c.G1672A:p.D558N	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0063	0	0	0	0.0427	0.0033	0.0625	0	0.0006145	95	154602	rs183423016	0.0044	0.0033	0.0045	0.0044	0.0047	0.0043	0.0043	0.0046	0.0046	0.0006	0.0021	0.0016	0	0.0095	0.0031	0.0047	0.0029	0.0006	0.0033	0.0033	0.0030	0.0036	0.0044	0.0031	0.0030	0.0040	0.0038	0.0008	0	0.0018	0.0003	0	0.0125	0.0034	0.0044	0.0024	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.16	0.60381	M	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.008165479	0.00185	T	.	.	.	.	.	.	.	0.39694197178	0.39312	0.6323432629744559	0.63168	.	.	.	.	.	0.004782	0.04195	T	-0.501457	0.00561	T	-0.49158	0.23225	T	.	.	.	0.936106	0.76057	D	0.11265751	0.26614	0.28331494	0.54324	0.11265751	0.26613	0.28331494	0.54323	-3.972	0.23383	T	.	.	0.673	0.71868	P	.;.	.;.	4.717928	0.75867	26.4	0.86755802676307481	0.16751	0.97941	0.78296	D	AEFDBI	0.605307	0.59607	D	.	.	.	.	.	.	0.999511076539664	0.40117	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.67	3.68	0.41359	5.477000	0.66525	5.489000	0.48743	0.505000	0.23025	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.0:0.8232:0.1767:0.0	11.964	0.52315	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1664.43	34	chr1	22953111	.	C	T	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.436;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.457;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	9	0	1	0
chr1	23751882	23751882	C	T	exonic	ELOA	.	nonsynonymous SNV	ELOA:NM_003198:exon4:c.C1355T:p.T452I	.	432	1065	25	0	0	25	0.0116009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00429978092574	0.0005	0.000998403	0.0017	0.0002	0.0003	0	0.0005	0.0019	0.0034	0.0043	0.0014618	226	154602	rs141899107	0.0013	0.0013	0.0011	0.0015	0.0102	0.0013	0.0012	0.0081	0.0074	0.0005	0.0004	0.0044	0	0.0005	0.0102	0.0011	0.0018	0.0044	0.0011	0.0011	0.0012	0.0010	0.0035	0.0010	0.0009	0.0022	0.0018	0.0003	0	0.0004	0.0029	0	9.432e-05	0.0204	0.0016	0.0038	0.0035	0.108	0.29420	T	0.037	0.52389	D	0.03	0.20002	B	0.012	0.16012	B	0.003364	0.35041	N	0.253566	0.966603	0.25886	N	2.015	0.55033	M	3.21	0.07125	T	-1.59	0.38345	N	0.227	0.27197	-1.0705	0.09304	T	0.026	0.11264	T	10	0.0032594204	0.00056	T	0.004	0.10435	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.11500535156170279	0.11428	0.355051239597	0.37268	0.483763575554	0.36575	T	0.224116	0.58846	T	-0.552325	0.00282	T	-0.566023	0.15816	T	0.018541931672838	0.00569	T	0.657134	0.26688	T	0.04585418	0.07578	0.05966502	0.11235	0.04585418	0.07577	0.05966502	0.11234	-5.875	0.45221	T	.	.	0.146	0.36375	B	.;.;.	.;.;.	2.686434	0.35059	19.80	0.99772456471043602	0.86003	0.97449	0.74821	D	AEFDBCI	0.662336	0.63224	D	-0.162840461811711	0.34691	1.983129	-0.073760450604231	0.36479	2.123462	0.999999885705016	0.74766	0.706548	0.73137	0	0.639134	0.57113	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	4.94	0.64645	5.272000	0.65369	3.955000	0.40703	0.596000	0.33519	0.522000	0.27127	0.388000	0.24649	0.384000	0.26424	0.0:0.932:0.0:0.068	15.076	0.71746	478	0.77585	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.015152	0.010870	0.023392	0.000000	0.008621	0.012195	0.022727	0.05	753.43	36	chr1	23751882	.	C	T	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.186;DP=387;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.814;SOR=1.294	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,104,1239	9	0	1	0
chr1	23797047	23797047	G	A	exonic	GALE	.	nonsynonymous SNV	GALE:NM_001127621:exon6:c.C629T:p.P210L,GALE:NM_000403:exon7:c.C629T:p.P210L,GALE:NM_001008216:exon7:c.C629T:p.P210L	Galactose epimerase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	494036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.961	0.679703410898	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163216229	6.844e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.975	0.96601	H	-3.48	0.94584	D	-9.7	0.98636	D	0.958	0.96758	1.094	0.99399	D	0.947	0.98256	D	10	0.97339565	0.97014	D	0.679703	0.97344	D	0.961	0.99405	.	.	0.953678394376	0.95318	0.878289159940182	0.87795	0.625447999306	0.56721	0.721738874912	0.70300	T	0.90378	0.98133	D	0.551845	0.95832	D	0.554911	0.95769	D	0.999976277351379	0.99958	D	0.998238	0.99167	D	0.9877965	0.99642	0.94906604	0.98343	0.9877965	0.99642	0.94906604	0.98343	-14.832	0.95446	D	0.8280386430095575	0.89951	0.847	0.81129	P	.;.;.;.	.;.;.;.	6.222408	0.94823	34	0.99885798808900705	0.96126	0.99633	0.98183	D	AEFDGBHCI	0.943454	0.94932	D	1.08006020929887	0.97747	16.68695	0.998114068883351	0.98590	18.72609	1.0	0.98316	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	9.441000	0.96742	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.096	0.93234	507	0.75469	NAD(P)-binding domain;NAD(P)-binding domain;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1275.43	39	chr1	23797047	.	G	A	1275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.336;DP=444;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.75;SOR=0.473	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1459	9	0	1	0
chr1	23868280	23868280	C	G	exonic	FUCA1	.	nonsynonymous SNV	FUCA1:NM_000147:exon1:c.G7C:p.A3P	Fucosidosis, Autosomal recessive	5	1467	47	3	0	53	0.0177436	.	.	YES	280123	not_provided|FUCA1-related_disorder|Fucosidosis	MedGen:C3661900|.|MONDO:MONDO:0009254,MedGen:C0016788,OMIM:230000,Orphanet:349	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.067	.	0.0021	0.0133786	0.0161	0	0.0971	0	0	0.0087	0.0467	0.0181	0.0068498	1059	154602	rs61996282	0.0096	0.0096	0.0096	0.0097	0.0518	0.0095	0.0095	0.0498	0.0490	0.0019	0.0518	0.0013	0.0001	0.0015	0.0106	0.0088	0.0099	0.0157	0.0094	0.0094	0.0088	0.0100	0.0422	0.0090	0.0089	0.0395	0.0385	0.0023	0	0.0422	0.0012	0	0.0013	0.0068	0.0084	0.0118	0.0164	0.174	0.22486	T	0.084	0.41239	T	0.0	0.02946	B	0.001	0.04355	B	0.000389	0.00589	N	4.458410	1	0.08975	N	0.205	0.09354	N	0.63	0.53088	T	-0.34	0.12661	N	0.174	0.18649	-1.0848	0.06444	T	0.021	0.08639	T	10	0.0022031665	0.00032	T	.	.	.	0.067	0.19503	.	.	.	.	0.5235821115694509	0.52282	0.470944129722	0.46361	0.358692973852	0.19194	T	0.072016	0.34349	T	-0.58831	0.00172	T	-0.580599	0.14491	T	0.0198403468811232	0.00686	T	0.251175	0.03802	T	0.085943185	0.19958	0.11733206	0.28325	0.06121017	0.12649	0.10698687	0.25747	-3.762	0.20238	T	.	.	0.080	0.07985	B	.	.	0.094463	0.04974	1.537	0.98163784923902153	0.38797	0.03710	0.08995	N	ALL	0.164038	0.29039	N	-1.26523520428306	0.04101	0.1844868	-1.30639370058685	0.04347	0.2048423	1.0	0.98316	0.437478	0.07067	0	0.218748	0.04544	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	4.9	-3.58	0.04303	-2.153000	0.01373	-6.841000	0.01293	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2648:0.318:0.1932:0.2239	0.578	0.00661	639	0.64210	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1327.43	34	chr1	23868280	.	C	G	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.311;DP=400;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.01;SOR=0.927	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1025	9	0	1	0
chr1	23961617	23961617	G	A	exonic	PNRC2	.	nonsynonymous SNV	PNRC2:NM_017761:exon3:c.G160A:p.A54T	.	425	1087	8	2	0	12	0.00548948	.	.	.	2225305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0104569753217	.	.	.	.	.	.	.	.	.	.	.	.	.	rs908873824	0.0001	0.0001	5.854e-05	0.0002	0.0014	0.0001	9.702e-05	0.0009	0.0008	2.988e-05	0.0002	0	0	0	0.0014	4.137e-05	0.0003	0.0011	6.566e-05	6.562e-05	8.996e-05	4.027e-05	0.0003	3.514e-05	2.614e-05	8.867e-05	5.28e-05	0	0	0.0003	0	0	0	0.0034	5.88e-05	0	0.0002	0.077	0.34095	T	0.226	0.25438	T	0.0	0.02946	B	0.001	0.04355	B	0.251643	0.15497	N	0.633911	0.814414	0.34686	D	0.695	0.17993	N	0.92	0.44461	T	-0.82	0.22508	N	0.175	0.19861	-1.0750	0.08348	T	0.080	0.31795	T	9	0.086693615	0.14760	T	0.010457	0.27023	T	0.089	0.25827	0.205	0.12076	0.344710718752	0.34073	0.31461409994735884	0.31374	.	.	0.412409842014	0.26791	T	0.122914	0.44692	T	-0.458527	0.01004	T	-0.514451	0.20858	T	0.0569530182961171	0.06680	T	0.805019	0.45286	T	0.08076223	0.18523	0.21908306	0.46635	0.08076223	0.18522	0.21908306	0.46634	-4.645	0.32732	T	.	.	0.076	0.06069	B	.;.;.	.;.;.	2.969952	0.39582	21.0	0.99349917859898129	0.60533	0.92526	0.55918	D	AEFDBCI	0.779909	0.71196	D	-0.117436908156747	0.36634	2.120152	0.0169427648861556	0.40501	2.418138	0.999999933356253	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.59	3.59	0.40253	6.799000	0.74947	11.711000	0.94653	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.178:0.822:0.0	11.776	0.51255	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	523.43	49	chr1	23961617	.	G	A	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=411;ExcessHet=0;FS=6.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.14;MQRankSum=-0.319;QD=10.26;ReadPosRankSum=0.39;SOR=1.588	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1046	9	0	1	0
chr1	24334661	24334661	G	A	exonic	GRHL3	.	nonsynonymous SNV	GRHL3:NM_001195010:exon3:c.G83A:p.R28Q,GRHL3:NM_021180:exon3:c.G236A:p.R79Q,GRHL3:NM_198173:exon3:c.G221A:p.R74Q,GRHL3:NM_198174:exon3:c.G221A:p.R74Q	Van der Woude syndrome 2, Autosomal dominant	428	1080	14	0	0	14	0.00643974	.	.	.	2011023	Van_der_Woude_syndrome_2	MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.335	0.06388014343	.	0.000399361	0.0004	9.638e-05	8.646e-05	0	0	0.0002	0	0.0019	0.0003299	51	154602	rs534391501	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0020	0.0017	8.97e-05	4.516e-05	0.0005	0	0	0.0031	9.9e-05	0.0004	0.0018	0.0002	0.0002	0.0002	0.0002	0.0021	0.0001	0.0001	0.0011	0.0009	7.236e-05	0	0.0002	0.0006	0	0	0	0.0001	0.0005	0.0021	0.003	0.72154	D	0.006	0.92824	D	1.0	0.90584	D	0.928	0.66279	D	0.000005	0.62929	D	0.058906	0.997981	0.81001	D	2.565	0.75005	M	0.23	0.59717	T	-2.81	0.73893	D	0.378	0.43223	-0.1428	0.79096	T	0.410	0.75887	T	10	0.022968978	0.00588	T	0.06388	0.69106	D	0.335	0.65718	.	.	0.418159628064	0.41432	0.422662077019578	0.42183	1.17107731969	0.79766	0.543375909328	0.44922	T	0.569705	0.85732	D	-0.081701	0.39437	T	0.0966356	0.76684	D	0.232860723461265	0.22087	T	0.882912	0.60466	D	0.5762318	0.71402	0.43729585	0.67153	0.54921657	0.69913	0.41529933	0.65648	-3.181	0.15573	T	0.3452130181781596	0.44275	0.409	0.75204	A	.;.;.;.;.	.;.;.;.;.	5.400282	0.90437	31	0.99939239298135552	0.99734	0.94711	0.62067	D	AEFDBI	0.631516	0.61246	D	0.756497940984624	0.83330	7.988722	0.714576806346962	0.83487	8.034031	0.999999985641178	0.74766	0.653281	0.48532	0	0.627178	0.54094	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	4.560000	0.60512	9.915000	0.82458	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.030	0.89205	814	0.42100	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.005848	0.050000	0.000000	0.000000	0.000000	0.05	759.43	34	chr1	24334661	.	G	A	759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=401;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.389;SOR=0.833	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr1	24383997	24383997	T	C	exonic	STPG1	.	nonsynonymous SNV	STPG1:NM_178122:exon3:c.A55G:p.I19V,STPG1:NM_001199012:exon4:c.A196G:p.I66V,STPG1:NM_001199013:exon4:c.A196G:p.I66V	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000999487538752	7.7e-05	0.00139776	0.0012	0	0	0	0	0.0003	0.0099	0.0075	0.0010284	159	154602	rs200647962	0.0006	0.0006	0.0004	0.0008	0.0071	0.0006	0.0006	0.0066	0.0064	8.998e-05	0.0001	0	0	1.873e-05	0	0.0002	0.0011	0.0071	0.0004	0.0004	0.0003	0.0006	0.0085	0.0003	0.0003	0.0064	0.0057	0.0001	0	0.0002	0	0	9.413e-05	0.0034	0.0001	0.0009	0.0085	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.967721	0.07758	N	1.016300	1	0.08975	N	0.425	0.12573	N	.	.	.	-0.01	0.07736	N	0.058	0.03392	-0.9887	0.32928	T	0.030	0.13111	T	9	0.005063653	0.00109	T	9.99E-4	0.01073	T	0.112	0.31546	.	.	0.0297737177859	0.01360	0.08984958257102625	0.08917	0.12648458136	0.14259	0.292053699493	0.09221	T	2.8E-4	0.00069	T	-0.623425	0.00105	T	-0.664138	0.07989	T	0.0100376437632676	0.00134	T	0.525647	0.17685	T	0.027524278	0.01957	0.023370385	0.00351	0.027524278	0.01957	0.023370385	0.00351	-2.785	0.09024	T	.	.	0.082	0.10883	B	.;.;.	.;.;.	-0.795522	0.01115	0.051	0.22473242607285895	0.00906	0.04807	0.10528	N	AEFDBCI	0.054485	0.09911	N	-1.78450676094717	0.00584	0.0251692	-1.75847053329432	0.00902	0.04032006	0.999951186397888	0.48110	0.651	0.46895	0	0.624146	0.53433	0	0.65145	0.50148	0	0.563494	0.21769	0	.	.	6.03	-4.14	0.03628	-0.381000	0.07475	-1.950000	0.04446	-1.130000	0.01458	0.000000	0.06391	0.000000	0.08366	0.267000	0.23694	0.0:0.3761:0.2506:0.3733	6.449	0.21091	738	0.53389	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.05	913.43	34	chr1	24383997	.	T	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.148;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.23;ReadPosRankSum=0.137;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1064	9	0	1	0
chr1	24669224	24669224	C	T	exonic	SRRM1	.	nonsynonymous SNV	SRRM1:NM_001366584:exon13:c.C1586T:p.T529M,SRRM1:NM_001366565:exon14:c.C1592T:p.T531M,SRRM1:NM_001366567:exon14:c.C1586T:p.T529M,SRRM1:NM_001366568:exon14:c.C1634T:p.T545M,SRRM1:NM_001366572:exon14:c.C1589T:p.T530M,SRRM1:NM_001366573:exon14:c.C1628T:p.T543M,SRRM1:NM_001366582:exon14:c.C1838T:p.T613M,SRRM1:NM_001366585:exon14:c.C1631T:p.T544M,SRRM1:NM_001366586:exon14:c.C1502T:p.T501M,SRRM1:NM_001366587:exon14:c.C1544T:p.T515M,SRRM1:NM_001366588:exon14:c.C1835T:p.T612M,SRRM1:NM_001366589:exon14:c.C1832T:p.T611M,SRRM1:NM_001366592:exon14:c.C1745T:p.T582M,SRRM1:NM_001366598:exon14:c.C1589T:p.T530M,SRRM1:NM_005839:exon14:c.C1841T:p.T614M,SRRM1:NM_001303448:exon15:c.C1877T:p.T626M,SRRM1:NM_001303449:exon15:c.C1760T:p.T587M,SRRM1:NM_001366566:exon15:c.C1592T:p.T531M,SRRM1:NM_001366569:exon15:c.C1880T:p.T627M,SRRM1:NM_001366570:exon15:c.C1625T:p.T542M,SRRM1:NM_001366571:exon15:c.C1634T:p.T545M,SRRM1:NM_001366575:exon15:c.C1874T:p.T625M,SRRM1:NM_001366576:exon15:c.C1790T:p.T597M,SRRM1:NM_001366577:exon15:c.C1793T:p.T598M,SRRM1:NM_001366581:exon15:c.C1787T:p.T596M,SRRM1:NM_001366590:exon15:c.C1628T:p.T543M,SRRM1:NM_001366591:exon15:c.C1544T:p.T515M,SRRM1:NM_001366593:exon15:c.C1631T:p.T544M,SRRM1:NM_001366594:exon15:c.C1541T:p.T514M,SRRM1:NM_001366595:exon15:c.C1883T:p.T628M,SRRM1:NM_001366596:exon15:c.C1676T:p.T559M,SRRM1:NM_001366597:exon15:c.C1766T:p.T589M,SRRM1:NM_001366599:exon15:c.C1586T:p.T529M,SRRM1:NM_001366578:exon16:c.C1541T:p.T514M,SRRM1:NM_001366600:exon16:c.C1634T:p.T545M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0235109833142	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs778169233	1.915e-05	1.915e-05	1.361e-05	2.475e-05	4.637e-05	1.328e-05	1.144e-05	1.583e-05	9.3e-06	0	0	0	2.519e-05	3.744e-05	0	1.709e-05	3.312e-05	4.637e-05	2.63e-05	2.627e-05	0	5.384e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	9.423e-05	0	4.411e-05	0	0	0.001	0.78490	D	0.222	0.48855	T	0.998	0.73220	D	0.725	0.55077	P	0.000154	0.49130	D	0.088362	0.999204	0.46326	D	1.39	0.34934	L	0.81	0.50459	T	-0.94	0.25118	N	0.434	0.50508	-0.7248	0.59224	T	0.226	0.59058	T	10	0.25996697	0.43440	T	0.023511	0.46474	T	0.222	0.51872	.	.	0.321697908245	0.31786	0.15797648750100976	0.15718	0.505741086259	0.48806	0.649769544601	0.59953	T	0.025315	0.18955	T	-0.0948411	0.37278	T	-0.277155	0.47095	T	0.484872457944312	0.32076	T	0.760524	0.45757	T	0.059699025	0.12165	0.14437342	0.34279	0.059699025	0.12164	0.14437342	0.34278	-4.61	0.32297	T	.	.	0.123	0.44015	B	.;.;.;.	.;.;.;.	3.870043	0.56179	23.7	0.99743664753827377	0.83703	0.93789	0.59195	D	AEFGBI	0.401485	0.47596	N	0.594709776605687	0.72845	5.870037	0.631421721635863	0.77233	6.640189	0.999325065994865	0.39149	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	2.616000	0.46041	5.948000	0.51598	0.596000	0.33519	0.987000	0.36337	1.000000	0.68203	0.896000	0.43308	0.0:1.0:0.0:0.0	20.439	0.99109	713	0.56348	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2117.43	34	chr1	24669224	.	C	T	2117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=504;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.92;MQRankSum=-0.431;QD=10.97;ReadPosRankSum=0.763;SOR=0.539	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	9	0	1	0
chr1	25805153	25805153	G	A	exonic	SELENON	.	unknown	UNKNOWN	Muscular dystrophy, rigid spine, 1, Autosomal recessive;Myopathy, congenital, with fiber-type disproportion, Autosomal recessive, Autosomal dominant	2	1515	5	0	0	5	0.00164745	.	.	.	206785	Congenital_myopathy_with_fiber_type_disproportion|Eichsfeld_type_congenital_muscular_dystrophy|SEPN1-related_disorder|not_specified|not_provided	MONDO:MONDO:0009711,MedGen:C0546264,Orphanet:2020|MONDO:MONDO:0011271,MedGen:C0410180,OMIM:602771|MedGen:CN239420|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.0122374439035	0.0005	.	0.0007	0.0002	0.0006	0	0	0.0011	0.0022	0.0001	0.000815	126	154602	rs201692549	0.0012	0.0012	0.0012	0.0011	0.0014	0.0011	0.0011	0.0013	0.0013	0.0004	0.0010	0	0	7.525e-05	0.0004	0.0014	0.0010	0.0001	0.0009	0.0009	0.0010	0.0007	0.0014	0.0008	0.0007	0.0011	0.0010	0.0005	0	0.0013	0	0	0	0	0.0014	0.0014	0	1.0	0.11550	T	0.666	0.06427	T	0.004	0.12183	B	0.001	0.04355	B	0.701531	0.06206	N	1.144270	1	0.08975	N	-0.17	0.04298	N	2.95	0.54540	T	0.27	0.05217	N	0.057	0.31027	-1.0282	0.21038	T	0.043	0.18493	T	10	0.007618934	0.00173	T	0.012237	0.30635	T	0.023	0.04649	.	.	0.158396225186	0.15383	.	.	0.235359856156	0.26065	0.224432840943	0.01582	T	0.051133	0.28794	T	-0.559902	0.00254	T	-0.601664	0.12672	T	0.000496167081268919	0.00004	T	0.513749	0.16498	T	0.051467117	0.09456	0.057641283	0.10515	0.051467117	0.09456	0.057641283	0.10515	.	.	.	.	.	0.072	0.04396	B	.;.;.	.;.;.	1.135421	0.15225	11.68	0.59833787531009552	0.06318	0.09258	0.15050	N	AEFDGBI	0.097508	0.19665	N	-1.42331487098782	0.02435	0.1075211	-1.38879890599823	0.03370	0.1570784	0.999988263948068	0.51787	0.695654	0.57023	0	0.681609	0.65952	0	0.723109	0.80598	0	0.591603	0.36755	0	.	.	4.19	-1.02	0.09618	0.697000	0.25234	1.702000	0.28138	0.672000	0.70159	0.000000	0.06391	0.002000	0.18203	0.137000	0.19835	0.3338:0.0:0.513:0.1532	4.066	0.09341	661	0.61838	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1255.43	33	chr1	25805153	.	G	A	1255.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.816;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1225:.	9	0	1	0
chr1	25837515	25837516	GG	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.117_118del:p.L40Sfs*7,AUNIP:NM_024037:exon2:c.117_118del:p.L40Sfs*7	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	0.0002005	31	154602	rs762902706	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.236e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.411e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	753.39	33	chr1	25837514	.	AGG	A	753.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.501;DP=347;ExcessHet=0;FS=6.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=0.183;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1033:.	9	0	1	0
chr1	25837518	25837518	G	-	exonic	AUNIP	.	frameshift deletion	AUNIP:NM_001287490:exon2:c.115delC:p.L39Sfs*65,AUNIP:NM_024037:exon2:c.115delC:p.L39Sfs*65	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0002	0	0	0	0.0002	0.0004	0	6.061e-05	1.29e-05	2	154602	rs761229800	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0002	2.237e-05	0.0008	0	0.0004	0	0.0008	0.0007	0.0002	0.0005	0.0005	0.0006	0.0004	0.0010	0.0005	0.0004	0.0008	0.0008	0.0002	0	0.0001	0.0009	0	9.414e-05	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	753.39	33	chr1	25837517	.	AG	A	753.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.823;DP=346;ExcessHet=0;FS=6.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.74;ReadPosRankSum=0.023;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1033:.	9	0	1	0
chr1	25988233	25988233	G	C	exonic	PAFAH2	.	nonsynonymous SNV	PAFAH2:NM_000437:exon4:c.C339G:p.F113L	.	.	.	.	.	.	.	.	0.9295	0.624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0138774376806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.46910	D	0.171	0.30339	T	0.948	0.53620	P	0.754	0.56161	P	0.000003	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	0.51	0.55439	T	-3.27	0.67824	D	0.77	0.76760	-0.9926	0.31933	T	0.160	0.49463	T	10	0.7320503	0.74365	D	0.013877	0.33612	T	0.280	0.59740	0.816	0.93060	0.469248961376	0.46551	0.4175625665605737	0.41672	0.379620937222	0.39352	0.670211315155	0.62868	T	0.40766	0.76321	T	0.0892291	0.63104	D	-0.109605	0.62643	T	0.987691700458527	0.78141	D	0.948505	0.93712	D	0.49179837	0.66609	0.41604352	0.65700	0.49179837	0.66610	0.41604352	0.65700	-10.2	0.75100	D	.	.	0.912	0.84664	P	.;.;.;.	.;.;.;.	5.279278	0.88641	29.7	0.99869048646591763	0.94726	0.90289	0.51347	D	AEFDBI	0.524913	0.54791	D	0.401751944433067	0.61518	4.354089	0.480443975030024	0.66695	4.985676	0.999999980210273	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.84	5.84	0.93373	4.061000	0.57199	9.991000	0.82984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0775:0.0:0.9225:0.0	12.941	0.57737	690	0.58899	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1151.43	40	chr1	25988233	.	G	C	1151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.531;DP=407;ExcessHet=0;FS=2.997;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.542;SOR=1.135	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1185	9	0	1	0
chr1	26058484	26058484	A	T	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon5:c.T737A:p.I246N	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0259062497016	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs751834690	4.788e-05	4.788e-05	3.947e-05	5.638e-05	0.0003	3.86e-05	3.54e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0.0003	4.047e-05	4.967e-05	0.0002	3.943e-05	3.94e-05	2.57e-05	5.381e-05	0.0002	1.716e-05	1.13e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0.0002	0.048	0.40068	D	0.057	0.46406	T	0.207	0.29891	B	0.106	0.31143	B	0.000010	0.62929	D	0.149749	0.982539	0.39903	D	2.215	0.62545	M	0.89	0.45636	T	-3.16	0.64246	D	0.786	0.78262	-1.0011	0.29602	T	0.112	0.40075	T	10	0.64110816	0.69062	D	0.025906	0.48854	D	0.200	0.48430	0.502	0.59460	0.395289904662	0.39143	0.7605954958857244	0.76007	0.657483067834	0.58699	0.639129638672	0.58441	T	0.715226	0.91908	D	-0.282996	0.10352	T	-0.352132	0.38960	T	0.289428681135178	0.24566	T	0.776522	0.40874	T	0.5796899	0.71592	0.33347118	0.59183	0.5796899	0.71593	0.33347118	0.59183	-9.859	0.73063	D	.	.	0.225	0.45702	B	.	.	3.154724	0.42722	21.6	0.97486123199336694	0.34214	0.88036	0.47792	D	AEFGBI	0.410139	0.48113	N	-0.238672972915784	0.31558	1.770739	-0.148059369265145	0.33482	1.915774	0.987068973636989	0.31178	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.5	3.15	0.35301	1.989000	0.40328	4.736000	0.44580	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.8005:0.0:0.0709:0.1286	7.353	0.25873	720	0.55521	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1242.43	33	chr1	26058484	.	A	T	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.294;DP=414;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.6;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr1	26168480	26168480	T	C	exonic	C1orf232	.	nonsynonymous SNV	C1orf232:NM_001364667:exon1:c.A20G:p.K7R,C1orf232:NM_001364669:exon1:c.A20G:p.K7R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.705e-06	7.524e-06	7.018e-06	0	0.0002	8.7e-07	5.9e-07	6.97e-05	4.209e-05	0	0	0	0	0	0	0	0	0.0002	1.971e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	.	.	.	0.614	0.10138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.51583	.	.	.	.	.	.	.	0.20744139	0.37040	T	.	.	.	.	.	.	.	.	.	0.08326414995136208	0.08260	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476852	0.15517	T	0.23154041	0.45927	0.4165227	0.65734	0.23154041	0.45927	0.4165227	0.65734	-4.148	0.25995	T	.	.	0.121	0.25067	B	.;.	.;.	2.778229	0.36485	20.3	0.86908663220989202	0.16855	0.79606	0.39479	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999620940239346	0.41093	0.06567	0.01388	0	0.060609	0.00678	0	0.091372	0.02933	0	0.062806	0.01542	0	0.971475	0.73739	5.18	5.18	0.71140	1.853000	0.38998	5.011000	0.46670	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.856	0.57273	410	0.82135	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1505.43	47	chr1	26168480	.	T	C	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.356;DP=492;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.38;SOR=0.597	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	9	0	1	0
chr1	26191320	26191320	A	G	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon2:c.A247G:p.M83V	.	415	1079	27	1	0	29	0.0132602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.0890002567253	0.0062	0.00339457	0.0066	0.0023	0.0041	0.0001	0.0018	0.0092	0.0055	0.0062	0.0066235	1024	154602	rs142583631	0.0082	0.0082	0.0082	0.0083	0.0101	0.0081	0.0080	0.0086	0.0085	0.0013	0.0060	0.0251	5.038e-05	0.0020	0.0101	0.0087	0.0101	0.0066	0.0061	0.0061	0.0064	0.0057	0.0086	0.0057	0.0056	0.0080	0.0078	0.0020	0.0077	0.0061	0.0236	0	0.0016	0.0170	0.0086	0.0114	0.0054	0.017	0.51248	D	0.038	0.51421	D	0.278	0.32022	B	0.084	0.29270	B	0.002745	0.36001	N	0.197595	0.768552	0.29462	N	2.28	0.64929	M	-4.32	0.97218	D	-1.13	0.29114	N	0.119	0.10911	0.533	0.91006	D	0.779	0.92481	D	10	0.011005491	0.00242	T	0.089	0.75242	D	0.488	0.77592	.	.	0.877863225903	0.87667	0.4000759279756169	0.39922	0.184010296965	0.20694	0.391340315342	0.23859	T	0.057981	0.30717	T	-0.147869	0.28646	T	0.0252085	0.71966	D	0.0179220966271722	0.00518	T	0.727127	0.34152	T	0.13451928	0.31251	0.16348451	0.37922	0.13451928	0.31251	0.16348451	0.37921	-2.635	0.06774	T	.	.	0.091	0.12891	B	.;.	.;.	1.114159	0.14994	11.50	0.98992797598497251	0.49983	0.70222	0.34502	D	AEFDBI	0.220278	0.34505	N	-0.0325643871325253	0.40383	2.397351	0.0904244237645987	0.44065	2.695558	0.995485200455969	0.34152	0.554377	0.28877	0	0.578056	0.33634	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	1.557000	0.35906	1.442000	0.26535	-0.095000	0.16041	0.910000	0.31679	0.135000	0.23037	0.138000	0.19872	1.0:0.0:0.0:0.0	12.318	0.54289	413	0.81939	.;.	CNKSR1|CNKSR1	Pituitary|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.008152	0.000000	0.000000	0.000000	0.012195	0.011364	0.05	1117.43	69	chr1	26191320	.	A	G	1117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.543;DP=595;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.497;SOR=0.693	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	9	0	1	0
chr1	26197689	26197689	G	A	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon4:c.G463A:p.G155S	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.0809592570709	7.7e-05	0.000798722	0.0004	0	8.721e-05	0	0	0.0001	0	0.0021	0.0003363	52	154602	rs375444620	0.0002	0.0002	0.0001	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	4.472e-05	0.0010	0	1.872e-05	0.0011	2.698e-05	0.0003	0.0024	9.847e-05	9.842e-05	6.422e-05	0.0001	0.0023	6.001e-05	4.875e-05	0.0013	0.0010	0	0	0	0.0006	0	0	0	2.939e-05	0	0.0023	0.241	0.17643	T	0.043	0.49942	D	1.0	0.90584	D	0.989	0.78396	D	0.001908	0.37691	N	0.118877	0.650852	0.30534	N	1.575	0.39704	L	-4.91	0.98352	D	-2.42	0.53096	N	0.478	0.51315	0.890	0.95536	D	0.928	0.97608	D	10	0.031480014	0.01284	T	0.080959	0.73576	D	0.528	0.80067	.	.	0.898099853859	0.89708	0.8305923145013427	0.83018	0.7076550198	0.61502	0.413335621357	0.26919	T	0.575151	0.85997	D	-0.249859	0.14115	T	-0.136919	0.60384	T	0.0904476493597031	0.11272	T	0.816718	0.47282	T	0.0887797	0.20721	0.13681822	0.32720	0.0887797	0.20721	0.13681822	0.32719	-5.566	0.42481	T	.	.	0.117	0.23848	B	.;.	.;.	4.995215	0.82842	27.9	0.99751138418435781	0.84305	0.60652	0.31257	D	AEFBI	0.120953	0.23539	N	0.376170893085921	0.60132	4.199026	0.335095336439109	0.57613	3.927801	8.84347957961435E-5	0.04703	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.32	3.44	0.38486	2.303000	0.43307	2.208000	0.31344	0.676000	0.76740	0.997000	0.40164	0.908000	0.28083	0.958000	0.51230	0.1987:0.0:0.8013:0.0	7.117	0.24602	412	0.82007	Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	679.43	33	chr1	26197689	.	G	A	679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.072;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.271;SOR=0.628	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr1	26275028	26275028	G	A	exonic	CEP85	.	nonsynonymous SNV	CEP85:NM_001281518:exon5:c.G155A:p.R52Q,CEP85:NM_001281517:exon11:c.G1706A:p.R569Q,CEP85:NM_001319944:exon12:c.G1859A:p.R620Q,CEP85:NM_022778:exon12:c.G1859A:p.R620Q	.	.	.	.	.	.	.	.	.	.	.	2355038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00531892832847	.	.	0.0006	0	0	0.0006	0	0.0011	0	0	0.0002264	35	154602	rs201784964	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0	2.432e-05	0.0057	0.0003	0	0	5.188e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.762e-05	2.575e-05	0	0	0	0.0072	0	0	0	8.82e-05	0.0014	0.0002	0.05	0.39575	D	0.214	0.26386	T	0.078	0.24389	B	0.011	0.18140	B	0.000505	0.43753	N	0.266541	0.945224	0.37479	D	1.31	0.32734	L	2.77	0.11407	T	0.03	0.06612	N	0.177	0.19055	-1.0772	0.07901	T	0.028	0.12103	T	10	0.006749302	0.00153	T	0.005319	0.13618	T	0.040	0.10527	.	.	0.224531998449	0.22054	0.08531571735260235	0.08465	0.0969990469516	0.10956	0.304969757795	0.11146	T	0.007256	0.06675	T	-0.499773	0.00573	T	-0.58458	0.14139	T	0.0333387513587204	0.02528	T	0.851715	0.53598	D	0.26540744	0.49609	0.22913033	0.47976	0.26540744	0.49609	0.22913033	0.47975	-3.32	0.15395	T	.	.	0.075	0.05668	B	.;.;.	.;.;.	2.817372	0.37108	20.4	0.99848711227772968	0.92838	0.75709	0.37083	D	ALL	0.208038	0.33416	N	-0.168881865557148	0.34433	1.965398	-0.0316902680551047	0.38291	2.253921	0.999999933019461	0.74766	0.722319	0.85440	0	0.71359	0.82159	0	0.698795	0.65105	0	0.723	0.93126	0	.	.	5.57	3.69	0.41483	0.966000	0.28929	1.795000	0.28833	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.995000	0.73285	0.144:0.0:0.856:0.0	11.566	0.50059	441	0.80015	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1294.43	83	chr1	26275028	.	G	A	1294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.923;DP=456;ExcessHet=0;FS=4.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=-0.175;SOR=1.147	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	12275.9	45	chr1	26282323	.	A	*	12275.9	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.395;DP=333;ExcessHet=0;FS=12.7;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.87;MQRankSum=0;QD=24.48;ReadPosRankSum=-0.278;SOR=1.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:30:57:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1236,1077,1070:26282320	6	0	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	8079.96	55	chr1	26282334	.	TGGGGCCG	*	8079.96	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.35;DP=378;ExcessHet=4.5998;FS=16.733;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.89;MQRankSum=0;QD=22.51;ReadPosRankSum=-0.863;SOR=1.402	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:36:39:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1433,1286,1323:26282320	7	0	3	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	7970.94	64	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	7970.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.886;DP=414;ExcessHet=4.5998;FS=13.964;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=59.9;MQRankSum=0;QD=20.39;ReadPosRankSum=0.282;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,4:36:36:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1429,1290,1373:26282320	7	0	3	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,32:36:99:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1393,99,0:26282320	0	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3598.17	66	chr1	26282374	.	ACC	*	3598.17	.	AC=2;AF=0.125;AN=16;BaseQRankSum=1.01;DP=428;ExcessHet=2.8389;FS=13.45;InbreedingCoeff=-0.4296;MLEAC=2;MLEAF=0.125;MQ=59.76;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.166;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:41:.:.:0,41,1094:.	6	0	2	2
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1943.22	77	chr1	26282386	.	GCCGGGA	*	1943.22	.	AC=3;AF=0.188;AN=16;BaseQRankSum=0.129;DP=487;ExcessHet=2.8389;FS=11.565;InbreedingCoeff=-0.4379;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.35;SOR=0.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:10:.:.:0,10,1088:.	5	0	3	2
chr1	26337616	26337616	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon9:c.T3566C:p.I1189T	.	419	1102	1	0	0	1	0.000453515	.	.	.	3429805	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.661	0.0977379463425	.	0.000199681	0.0001	0	0.0002	0	0	0.0002	0	0	9.06e-05	14	154602	rs564390494	5.886e-05	5.883e-05	5.856e-05	5.916e-05	0.0007	4.879e-05	4.498e-05	0.0002	0.0002	0.0001	0.0003	0	0	0	0.0007	5.486e-05	4.969e-05	0	7.897e-05	7.878e-05	0.0001	4.04e-05	0.0003	4.503e-05	3.517e-05	0.0001	8.301e-05	0	0	0.0003	0	0	0	0	7.357e-05	0.0009	0	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	0.000162	0.48594	D	0.243081	0.999406	0.81001	D	.	.	.	.	.	.	.	.	.	0.759	0.75742	-0.3156	0.74546	T	0.403	0.75359	T	10	0.45656005	0.59025	T	0.097738	0.76824	D	0.661	0.87332	.	.	0.823787080964	0.82212	0.7668235288479623	0.76631	0.379646040224	0.39352	0.56279283762	0.47662	T	.	.	.	-0.0366623	0.46442	T	0.011282	0.71065	D	0.465638905763626	0.31371	T	0.821518	0.48098	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.68834	A	.;.;.	.;.;.	3.637801	0.51562	23.1	0.99811948636811731	0.89531	0.97488	0.75073	D	AEFDGBCI	0.780451	0.71234	D	0.440291269893721	0.63654	4.603414	0.467466387328211	0.65844	4.875675	0.999999999691942	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.83	4.83	0.61880	4.722000	0.61651	11.206000	0.89223	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.380	0.60207	407	0.82314	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin;.;Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	838.43	40	chr1	26337616	.	A	G	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.78;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.319;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr1	26344165	26344165	C	A	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G2493T:p.E831D	.	347	1171	4	0	0	4	0.00170503	.	.	.	3239268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0025	0	0	0	0	0.0052	0	0.0015	0.0011319	175	154602	rs185540835	0.0044	0.0042	0.0045	0.0044	0.0072	0.0043	0.0043	0.0055	0.0050	0.0007	0.0043	0.0013	0	0.0007	0.0072	0.0051	0.0037	0.0014	0.0034	0.0034	0.0033	0.0035	0.0068	0.0031	0.0030	0.0057	0.0053	0.0010	0	0.0068	0.0012	0	0.0002	0.0102	0.0051	0.0043	0.0008	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.234	0.26354	.	.	.	.	.	.	.	0.0060617626	0.00136	T	.	.	.	.	.	.	.	0.628675003835	0.62564	0.08372301459071398	0.08306	.	.	0.479630947113	0.36005	T	.	.	.	-0.439033	0.01310	T	-0.398571	0.33550	T	.	.	.	0.592841	0.22695	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.36889	B	.;.;.	.;.;.	1.471793	0.18960	14.02	0.99820692556362078	0.90326	0.68077	0.33667	D	AEFBI	.	.	.	.	.	.	.	.	.	0.162355229870598	0.17612	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	4.15	0.47978	0.515000	0.22507	-2.401000	0.03800	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.991000	0.66497	0.0:0.8235:0.0:0.1765	10.031	0.41276	361	0.84870	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004268	0.010204	0.000000	0.003817	0.000000	0.000000	0.003521	0.013274	0.05	2370.43	115	chr1	26344165	.	C	A	2370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=783;ExcessHet=0;FS=2.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.6;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	9	0	1	0
chr1	26344884	26344884	A	G	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.T1774C:p.S592P	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0029	0	0	0	0.0128	0.0006	0	0.0047	0.0004657	72	154602	rs538385557	0.0006	0.0006	0.0005	0.0008	0.0056	0.0006	0.0006	0.0046	0.0045	3.174e-05	5.618e-05	3.982e-05	0	0.0023	0.0056	0.0003	0.0006	0.0050	0.0007	0.0007	0.0005	0.0008	0.0045	0.0006	0.0005	0.0030	0.0025	7.951e-05	0	0.0001	0	0	0.0024	0	0.0007	0.0015	0.0045	0.007	0.59928	D	0.372	0.16376	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.19	0.78427	T	-3.67	0.70191	D	0.045	0.01740	.	.	.	.	.	.	.	0.0076414645	0.00174	T	.	.	.	.	.	.	.	0.593458155424	0.59024	0.02519222091890092	0.02470	.	.	0.312482118607	0.12282	T	0.508241	0.82561	D	-0.544142	0.00316	T	-0.553583	0.16984	T	.	.	.	0.20068	0.02286	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12181	B	.;.;.	.;.;.	0.128573	0.05245	1.749	0.46358438282256698	0.03707	0.00081	0.00551	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.060607950324704	0.15203	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0567458	0.13447	2.56	-0.481	0.11479	-0.598000	0.05802	-3.681000	0.02609	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3975:0.0:0.3879:0.2146	2.632	0.04647	355	0.85216	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005359	0.000000	0.001416	0.006993	0.000000	0.019608	0.006369	0.007812	0.05	2088.43	115	chr1	26344884	.	A	G	2088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.421;DP=1233;ExcessHet=0;FS=0.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=1.3;QD=11.41;ReadPosRankSum=-1.142;SOR=0.624	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	9	0	1	0
chr1	26346482	26346482	C	T	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.G176A:p.R59H	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	8.2e-05	0.000798722	0.0005	0.0001	0.0006	0	0	6.263e-05	0.0012	0.0031	0.0004463	69	154602	rs370067840	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	0.0004	0	5.038e-05	0	0	1.259e-05	0.0002	0.0033	0.0002	0.0002	6.426e-05	0.0003	0.0043	0.0001	0.0001	0.0029	0.0024	4.813e-05	0	0.0001	0	0.0002	0	0	0	0	0.0043	.	.	.	0.544	0.09621	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.028	0.00618	-0.9585	0.39461	T	0.012	0.04510	T	9	0.006425917	0.00146	T	.	.	.	0.044	0.11924	.	.	0.0297737177859	0.01360	0.04577471199051958	0.04521	.	.	0.206053942442	0.00655	T	.	.	.	-0.782315	0.00011	T	-0.899882	0.00503	T	0.0125665755209146	0.00209	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.46250	B	.;.;.	.;.;.	0.382107	0.07541	4.190	0.5933387920255544	0.06200	0.00575	0.02600	N	AEFDBHCI	.	.	.	-1.48351235336492	0.01966	0.08633371	-1.46811101694895	0.02610	0.1203354	0.0267706460024836	0.13733	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.04	-2.42	0.06164	-0.432000	0.07026	-4.291000	0.02235	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3138:0.1908:0.1383:0.3571	0.242	0.00179	349	0.85513	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.007576	0.05	2031.43	42	chr1	26346482	.	C	T	2031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.96;DP=574;ExcessHet=0;FS=2.393;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=1.97;SOR=0.75	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1303	9	0	1	0
chr1	26794507	26794507	G	A	exonic	PIGV	.	nonsynonymous SNV	PIGV:NM_001374483:exon2:c.G92A:p.S31N,PIGV:NM_001202554:exon3:c.G473A:p.S158N,PIGV:NM_001374478:exon3:c.G473A:p.S158N,PIGV:NM_001374480:exon3:c.G473A:p.S158N,PIGV:NM_001374481:exon3:c.G473A:p.S158N,PIGV:NM_001374482:exon3:c.G473A:p.S158N,PIGV:NM_017837:exon3:c.G473A:p.S158N	Hyperphosphatasia with mental retardation syndrome 1, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	732359	Hyperphosphatasia_with_intellectual_disability_syndrome_1|not_provided	MONDO:MONDO:0009398,MedGen:C4551502,OMIM:239300,Orphanet:247262|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.373	0.0682984300424	.	0.000199681	0.0008	9.612e-05	0.0003	0	0	0.0002	0.0011	0.0046	0.0006404	99	154602	rs201332799	0.0004	0.0004	0.0002	0.0006	0.0043	0.0004	0.0004	0.0039	0.0038	0	4.472e-05	0	0	0.0004	0.0023	0.0001	0.0004	0.0043	0.0003	0.0003	0.0001	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0	0.0005	0	0.0002	0.0005	0.0039	0.478	0.08286	T	0.012	0.63918	D	0.074	0.24142	B	0.039	0.23607	B	0.000000	0.84330	D	0.045576	0.999898	0.81001	D	1.41	0.35535	L	-1.73	0.83327	D	2.42	0.00255	N	0.501	0.53357	-0.5482	0.66855	T	0.366	0.72643	T	9	0.018813342	0.00413	T	0.068298	0.70412	D	0.373	0.69188	.	.	0.873632360492	0.87240	0.17975048978749725	0.17894	0.220091016558	0.24552	0.645162761211	0.59298	T	0.282528	0.65527	T	-0.371432	0.03522	T	-0.305909	0.44097	T	0.051816980310711	0.05815	T	0.889011	0.61998	D	0.17840683	0.38857	0.19594933	0.43299	0.17763558	0.38740	0.19246356	0.42760	-2.397	0.05114	T	0.10114410098652933	0.07542	0.406	0.61659	A	.;.;.	.;.;.	2.950590	0.39262	20.9	0.33309165013536363	0.01977	0.97194	0.73244	D	AEFBI	.	.	.	-0.0186120809733682	0.41013	2.445699	0.185061206475967	0.49027	3.111052	0.999997140938669	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	5.55	0.83298	4.529000	0.60301	11.812000	0.96965	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1359:0.8641:0.0	15.827	0.78494	379	0.83778	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1715.43	33	chr1	26794507	.	G	A	1715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.802;DP=459;ExcessHet=0;FS=2.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-3.004;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	9	0	1	0
chr1	27006326	27006326	C	T	exonic	TENT5B	.	nonsynonymous SNV	TENT5B:NM_052943:exon2:c.G896A:p.R299H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00828648616696	.	.	1.751e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs767923600	1.303e-05	1.368e-05	1.091e-05	1.517e-05	0.0001	8.33e-06	6.72e-06	8.014e-05	6.249e-05	0	0	0	0	0	0	4.503e-06	3.32e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.005	0.72224	D	0.668	0.41123	P	0.623	0.51505	P	0.311500	0.14426	U	0.408862	0.999044	0.21681	N	.	.	.	1.73	0.26445	T	-3.16	0.64246	D	0.177	0.19055	-1.0377	0.18016	T	0.066	0.27225	T	10	0.25909996	0.43344	T	0.008286	0.21954	T	0.203	0.48915	0.565	0.68633	0.533567079455	0.53006	0.435973227786984	0.43514	0.851614069957	0.68559	0.381505578756	0.22469	T	0.160663	0.50460	T	-0.383493	0.02961	T	-0.551969	0.17136	T	0.384888888651609	0.28370	T	0.234777	0.03226	T	0.07886185	0.17983	0.059858523	0.11304	0.07886185	0.17982	0.059858523	0.11304	-6.624	0.51236	T	.	.	0.098	0.16187	B	.	.	4.026614	0.59515	24.1	0.99899010632299456	0.97124	0.21349	0.21370	N	AEFDBHCI	0.377347	0.46115	N	0.228134163368195	0.52565	3.430021	0.240323053176682	0.52100	3.387286	0.999999999998575	0.74766	0.714207	0.82060	0	0.59043	0.45803	0	0.648423	0.49468	0	0.613276	0.41899	0	.	.	5.31	4.33	0.51083	5.102000	0.64408	2.726000	0.34350	-0.176000	0.10722	1.000000	0.71638	0.038000	0.21505	0.778000	0.36829	0.0:0.7186:0.0:0.2814	4.365	0.10655	353	0.85335	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1943.43	135	chr1	27006326	.	C	T	1943.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.291;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1128	9	0	1	0
chr1	27306199	27306199	C	G	exonic	WDTC1	.	nonsynonymous SNV	WDTC1:NM_001276252:exon16:c.C1850G:p.T617R,WDTC1:NM_015023:exon16:c.C1847G:p.T616R	.	419	1075	26	2	0	30	0.0137615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00497530531623	0.0005	0.00239617	0.0016	0.0004	0.0003	0	0.0005	0.0012	0.0022	0.0065	0.0015071	233	154602	rs140564293	0.0012	0.0012	0.0010	0.0013	0.0073	0.0011	0.0011	0.0068	0.0066	5.974e-05	0.0003	0.0082	0	0.0003	0.0059	0.0006	0.0017	0.0073	0.0009	0.0009	0.0007	0.0011	0.0077	0.0008	0.0007	0.0057	0.0050	7.218e-05	0	0.0007	0.0072	0.0002	0.0002	0.0034	0.0008	0.0019	0.0077	0.405	0.10311	T	0.441	0.13290	T	0.001	0.09854	B	0.0	0.04355	B	0.000015	0.62929	D	0.145244	0.947591	0.37575	D	0	0.06538	N	0.11	0.61208	T	-0.11	0.08653	N	0.182	0.19728	-1.0273	0.21331	T	0.050	0.21104	T	10	0.007212788	0.00164	T	0.004975	0.12535	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.44393923415366376	0.44311	1.02241643155	0.75166	0.718167483807	0.69780	T	0.131349	0.46078	T	-0.465196	0.00912	T	-0.43797	0.29036	T	0.0128237361313397	0.00218	T	0.90111	0.65631	D	0.10437623	0.24675	0.121083185	0.29216	0.10437623	0.24675	0.121083185	0.29216	-7.719	0.59140	D	.	.	0.125	0.33596	B	.;.	.;.	4.076456	0.60605	24.2	0.94675613193340502	0.25305	0.96925	0.71691	D	AEFGBI	0.707001	0.66188	D	-0.29735598055378	0.29251	1.620429	-0.0393699762763489	0.37954	2.229351	0.999999695291189	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	3.825000	0.55430	5.836000	0.50206	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.998000	0.85391	0.2869:0.713:0.0:0.0	10.986	0.46737	356	0.85138	WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.000000	0.012195	0.015152	0.05	961.43	38	chr1	27306199	.	C	G	961.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.66;DP=422;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=2.56;SOR=0.493	GT:AD:DP:GQ:PL	0/1:59,41:100:99:973,0,1510	9	0	1	0
chr1	27332098	27332098	C	T	exonic	TMEM222	.	nonsynonymous SNV	TMEM222:NM_032125:exon3:c.C308T:p.A103V	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.00156299132547	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs139728654	4.104e-06	4.104e-06	4.084e-06	4.125e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	4.967e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.28026	T	0.275	0.22761	T	0.0	0.02946	B	0.002	0.06944	B	0.001845	0.37840	N	0.297439	0.753868	0.29610	N	0.245	0.09735	N	.	.	.	-0.57	0.17417	N	0.303	0.34228	-1.0633	0.10950	T	0.057	0.23866	T	9	0.20928231	0.37285	T	0.001563	0.02471	T	0.150	0.39571	.	.	0.241078983079	0.23725	0.5804440348877591	0.57973	0.332720288705	0.35319	0.544475197792	0.45078	T	0.040032	0.25393	T	-0.057566	0.43286	T	-0.320466	0.42524	T	0.2146901740664	0.21195	T	0.807219	0.71908	T	0.02531691	0.01457	0.06087116	0.11664	0.02531691	0.01457	0.06087116	0.11664	-3.854	0.21614	T	.	.	0.127	0.36275	B	.;.;.;.;.;.	.;.;.;.;.;.	2.796809	0.36783	20.3	0.96920574873995491	0.31617	0.84558	0.43641	D	AEFBI	0.253612	0.37307	N	-0.278093749289238	0.29995	1.668494	-0.0730372287814144	0.36509	2.125614	0.965940508322886	0.28867	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.81	3.62	0.40616	2.164000	0.42013	2.163000	0.30996	-0.178000	0.10482	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.6827:0.0:0.3173	7.102	0.24523	451	0.79296	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1559.43	37	chr1	27332098	.	C	T	1559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.488;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.357;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	9	0	1	0
chr1	27334251	27334251	T	G	exonic	TMEM222	.	nonsynonymous SNV	TMEM222:NM_032125:exon5:c.T509G:p.F170C	.	408	1110	4	0	0	4	0.00179856	.	.	.	3211016	TMEM222-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.264	0.00529695480291	0.0007	0.00119808	0.0008	0.0010	0.0023	0.0007	0	0.0006	0.0022	0.0009	0.0008344	129	154602	rs150291870	0.0006	0.0006	0.0006	0.0006	0.0024	0.0006	0.0006	0.0021	0.0019	0.0004	0.0024	0.0025	0.0002	0.0001	0.0005	0.0005	0.0008	0.0013	0.0007	0.0007	0.0008	0.0007	0.0027	0.0006	0.0006	0.0020	0.0018	0.0006	0	0.0027	0.0017	0	0	0	0.0004	0.0014	0.0010	0.041	0.46513	D	0.072	0.50809	T	0.999	0.77913	D	0.935	0.67021	D	0.047084	0.23377	N	0.500442	0.710576	0.30017	N	2.78	0.81115	M	.	.	.	-4.1	0.74900	D	0.493	0.52651	-0.3790	0.72682	T	0.321	0.68995	T	9	0.01963374	0.00441	T	0.005297	0.13556	T	0.264	0.57741	.	.	0.334659703779	0.33074	0.6985614336726526	0.69797	0.499841070482	0.48406	0.549677610397	0.45812	T	0.263802	0.63551	T	-0.301075	0.08558	T	-0.210798	0.53619	T	0.0563775284545176	0.06585	T	0.750125	0.37500	T	0.2680587	0.49878	0.3056502	0.56591	0.2680587	0.49878	0.3056502	0.56590	-8.589	0.65016	D	.	.	0.099	0.27343	B	.;.;.;.;.	.;.;.;.;.	4.023161	0.59433	24.1	0.97460442322806917	0.34079	0.88943	0.49122	D	AEFBHCI	0.737316	0.68255	D	0.526786776001699	0.68678	5.250522	0.460410315785468	0.65389	4.817493	0.999757588808173	0.42595	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	3.95	0.44952	3.078000	0.49794	0.692000	0.20773	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1407:0.8593	12.349	0.54465	459	0.78817	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	3759.43	35	chr1	27334251	.	T	G	3759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.745;DP=665;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.115;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1059	9	0	1	0
chr1	27382622	27382622	T	C	exonic	CD164L2	.	nonsynonymous SNV	CD164L2:NM_001330448:exon2:c.A134G:p.N45S,CD164L2:NM_207397:exon2:c.A134G:p.N45S	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.010628302748	0.0002	0.00119808	0.0008	9.942e-05	0.0002	0.0001	0	0.0004	0.0047	0.0034	0.0006598	102	154602	rs140169689	0.0004	0.0004	0.0003	0.0005	0.0094	0.0003	0.0003	0.0073	0.0065	0	0.0002	0	0	0	0.0094	0.0002	0.0009	0.0026	0.0003	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	2.408e-05	0	0.0002	0	0	0	0	0.0003	0	0.0031	0.008	0.58626	D	0.26	0.23298	T	0.986	0.61523	D	0.848	0.60574	P	0.015669	0.28183	N	0.251109	0.919343	0.27330	N	2.285	0.65182	M	1.04	0.40218	T	-0.27	0.11366	N	0.26	0.29429	-0.9393	0.42727	T	0.152	0.48135	T	10	0.011585534	0.00253	T	0.010628	0.27388	T	0.186	0.46104	.	.	0.545611132464	0.54216	0.2765596639845557	0.27568	0.147450757284	0.16638	0.516688346863	0.41160	T	0.004111	0.03522	T	-0.567833	0.00228	T	-0.59148	0.13538	T	0.0427860683289049	0.04198	T	0.822518	0.48242	T	0.06435776	0.13647	0.09246045	0.21791	0.06435776	0.13646	0.09246045	0.21790	-2.412	0.05207	T	.	.	0.131	0.28232	B	.;.	.;.	2.841763	0.37494	20.5	0.99801818508141793	0.88639	0.79222	0.39216	D	AEFBI	0.091932	0.18617	N	0.309072221702106	0.56613	3.826304	0.265049426994407	0.53511	3.519564	0.999609762953021	0.40866	0.676563	0.55306	0	0.547309	0.14657	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	4.64	3.51	0.39297	1.268000	0.32665	2.645000	0.33778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.1061:0.0:0.8939	6.763	0.22737	624	0.65661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	466.43	36	chr1	27382622	.	T	C	466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.025;DP=410;ExcessHet=0;FS=2.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.43;SOR=0.317	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	28529938	28529938	G	C	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G72C:p.K24N,RCC1:NM_001048195:exon2:c.G72C:p.K24N,RCC1:NM_001269:exon2:c.G72C:p.K24N,RCC1:NM_001048199:exon4:c.G72C:p.K24N,RCC1:NM_001381865:exon5:c.G72C:p.K24N,RCC1:NM_001381866:exon5:c.G72C:p.K24N	.	.	.	.	.	.	.	.	0.0005	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0722973044124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.013	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.79565	0.34444	D	0.975	0.24501	L	-1.42	0.80645	T	-2.69	0.57435	D	0.534	0.59816	-0.3382	0.73896	T	0.360	0.72216	T	10	0.3560201	0.52350	T	0.072297	0.71496	D	0.385	0.70194	0.466	0.53729	0.810979576649	0.80920	0.4355928167309696	0.43476	1.08794106341	0.77349	0.71510207653	0.69333	T	0.171459	0.51959	T	-0.0209551	0.48717	T	-0.267877	0.48035	T	0.966483950614929	0.67598	D	0.647135	0.26150	T	0.8713628	0.88969	0.54599774	0.73756	0.8713628	0.88971	0.54599774	0.73757	-4.422	0.41312	T	.	.	0.469	0.83749	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.349977	0.46200	22.3	0.9977828321055946	0.86519	0.71592	0.35080	D	AEFDBI	0.232333	0.35542	N	0.0636588868213935	0.44772	2.745291	0.054517838595966	0.42291	2.555406	0.945564337054047	0.27666	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.591	0.16648	0.093000	0.14925	1.729000	0.28315	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.4743:0.0:0.5257:0.0	6.317	0.20404	509	0.75304	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	79.95	35	chr1	28529938	.	G	C	79.95	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.034;DP=609;ExcessHet=0.2348;FS=143.236;InbreedingCoeff=-0.1618;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.43;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:4:.:.:0,4,1024:.	7	0	2	1
chr1	28529939	28529939	G	A	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G73A:p.D25N,RCC1:NM_001048195:exon2:c.G73A:p.D25N,RCC1:NM_001269:exon2:c.G73A:p.V25I,RCC1:NM_001048199:exon4:c.G73A:p.V25I,RCC1:NM_001381865:exon5:c.G73A:p.V25I,RCC1:NM_001381866:exon5:c.G73A:p.V25I	.	.	.	.	.	.	.	.	0.5313	0.524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.621	0.17585	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999707	0.48408	D	0.805	0.20218	L	-1.37	0.80214	T	-0.08	0.09627	N	0.282	0.31925	-0.8367	0.52865	T	0.230	0.59608	T	9	0.1642656	0.30736	T	0.102731	0.77636	D	0.193	0.47281	0.374	0.38667	0.56369308836	0.56033	.	.	.	.	.	.	.	0.096226	0.39781	T	-0.246509	0.14529	T	-0.591869	0.13504	T	0.41732761410587	0.29592	T	0.692831	0.30243	T	0.08214295	0.18909	0.111036256	0.26779	0.08214295	0.18909	0.111036256	0.26779	-4.477	0.30586	T	.	.	0.14	0.30686	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.950203	0.57866	23.9	0.97990855547560107	0.37401	0.88842	0.48968	D	AEFDBI	0.502570	0.53492	D	-0.318498542283485	0.28444	1.569036	-0.10307575425883	0.35266	2.03826	0.999030383757656	0.38264	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	4.26	0.49832	3.490000	0.53007	5.774000	0.49761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0956:0.0:0.9044:0.0	9.872	0.40351	509	0.75304	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	49.43	35	chr1	28529939	.	G	A	49.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.787;DP=476;ExcessHet=0;FS=33.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.523;SOR=5.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,111,1665:.	9	0	1	0
chr1	28594038	28594038	G	C	exonic	RAB42	.	nonsynonymous SNV	RAB42:NM_001193532:exon2:c.G578C:p.G193A,RAB42:NM_152304:exon2:c.G239C:p.G80A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0367672750881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317642400	2.737e-06	2.736e-06	0	5.501e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.17881	T	0.254	0.23433	T	.	.	.	.	.	.	0.018311	0.27512	N	0.259516	0.674151	0.30337	N	0.805	0.20218	L	-1.29	0.79475	T	-0.53	0.16393	N	0.07	0.04307	-0.8447	0.52331	T	0.223	0.58639	T	10	0.18450806	0.33827	T	0.036767	0.57199	D	0.183	0.45592	.	.	0.801023057265	0.79916	0.5293721705516178	0.52861	0.121108408864	0.13643	0.275127649307	0.06822	T	.	.	.	-0.157368	0.27165	T	-0.463824	0.26184	T	0.118399761617184	0.14273	T	0.651635	0.27458	T	0.042554453	0.06474	0.07671056	0.17018	0.042554453	0.06473	0.07671056	0.17017	-5.091	0.37812	T	.	.	0.112	0.29255	B	.;.	.;.	2.546221	0.32951	19.19	0.94667413983499094	0.25288	0.94367	0.60939	D	AEFDGBHI	0.578270	0.57954	D	-0.333641677393883	0.27878	1.533085	-0.141108469425554	0.33752	1.934031	0.999999986464678	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.26897	0.05253	2	0.664235	0.64389	0	.	.	5.46	3.53	0.39533	3.952000	0.56399	4.168000	0.42254	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.827000	0.38976	0.1745:0.1863:0.6392:0.0	4.887	0.13067	501	0.75956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1179.43	37	chr1	28594038	.	G	C	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.144;DP=429;ExcessHet=0;FS=1.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.5;MQRankSum=1.38;QD=11.13;ReadPosRankSum=0.228;SOR=0.578	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1354	9	0	1	0
chr1	29148694	29148694	G	A	exonic	SRSF4	.	nonsynonymous SNV	SRSF4:NM_005626:exon6:c.C1201T:p.R401C	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00783323929991	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs760935315	1.026e-05	1.026e-05	9.529e-06	1.1e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	5.974e-05	0	0	0	0	0.0003	7.194e-06	1.656e-05	2.319e-05	1.315e-05	1.313e-05	0	2.689e-05	2.409e-05	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.007	0.69154	D	0.001	0.07471	B	0.001	0.04355	B	0.899210	0.07344	N	1.053470	0.946953	0.37548	D	0.805	0.20218	L	2.97	0.09450	T	-0.54	0.16598	N	0.276	0.31253	-1.0717	0.09043	T	0.024	0.10284	T	10	0.12748411	0.24244	T	0.007833	0.20773	T	0.066	0.19193	.	.	0.138757226776	0.13463	0.48892942408184314	0.48812	0.304014704751	0.32724	0.243880808353	0.03150	T	0.031893	0.22246	T	-0.322639	0.06684	T	-0.519697	0.20324	T	0.21056792140007	0.20983	T	0.839416	0.51368	T	0.09929988	0.23434	0.05212554	0.08525	0.09929988	0.23434	0.05212554	0.08524	-8.594	0.65049	D	.	.	0.086	0.20896	B	.;.	.;.	4.194352	0.63243	24.6	0.99246700100374508	0.56727	0.92395	0.55613	D	AEFDGBHCI	0.608986	0.59836	D	-0.23105832313077	0.31865	1.791151	-0.0873252893944132	0.35914	2.083457	0.968407611204974	0.29050	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.72	2.61	0.30255	2.063000	0.41049	6.287000	0.55391	-0.108000	0.15293	0.989000	0.36753	1.000000	0.68203	0.854000	0.40426	0.0796:0.292:0.6284:0.0	8.463	0.32100	602	0.67834	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2650.43	34	chr1	29148694	.	G	A	2650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=487;ExcessHet=0;FS=4.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=2.61;SOR=1.053	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1218	9	0	1	0
chr1	29275715	29275715	G	T	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon8:c.G1412T:p.R471L,PTPRU:NM_005704:exon8:c.G1412T:p.R471L,PTPRU:NM_133177:exon8:c.G1412T:p.R471L,PTPRU:NM_133178:exon8:c.G1412T:p.R471L	.	433	1052	36	1	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0052	0.00638978	0.0095	0.0008	0.0170	0.0013	0.0120	0.0086	0.0067	0.0172	0.0086092	1331	154602	rs35745442	0.0071	0.0071	0.0067	0.0074	0.0244	0.0069	0.0069	0.0212	0.0199	0.0010	0.0165	0.0105	0.0012	0.0125	0.0244	0.0057	0.0092	0.0177	0.0061	0.0061	0.0056	0.0067	0.0176	0.0058	0.0057	0.0146	0.0135	0.0009	0	0.0110	0.0098	0.0015	0.0133	0.0068	0.0065	0.0066	0.0176	0.166	0.24564	T	0.009	0.67890	D	0.912	0.53479	P	0.219	0.44178	B	0.000031	0.55875	D	0.069695	0.999525	0.47407	D	2.275	0.64647	M	0.64	0.52867	T	-4.39	0.77225	D	0.647	0.65844	-0.8413	0.52560	T	0.127	0.43380	T	9	0.009268105	0.00209	T	.	.	.	0.192	0.47115	.	.	0.24933006939	0.24537	0.6364288534790301	0.63576	0.72036751428	0.62177	0.577766299248	0.49771	T	0.327914	0.69838	T	-0.369222	0.03633	T	-0.289512	0.45823	T	0.0330116464804545	0.02473	T	0.987868	0.95886	D	0.38455072	0.59643	0.32482594	0.58403	0.38998896	0.60031	0.32482594	0.58402	-8.927	0.67704	D	.	.	0.231	0.46779	B	.;.;.;.	.;.;.;.	4.957788	0.81954	27.7	0.99732887324895736	0.82904	0.97459	0.74885	D	AEFBI	0.933729	0.92606	D	0.571116940105998	0.71377	5.641609	0.620875087269441	0.76457	6.494692	0.999927777652176	0.46280	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.4	5.4	0.77957	7.238000	0.77628	7.637000	0.63009	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	18.531	0.90944	371	0.84287	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.015152	0.006793	0.023392	0.050000	0.008621	0.018293	0.015152	0.05	1104.43	35	chr1	29275715	.	G	T	1104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.554;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.06;SOR=0.643	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1116,0,969	9	0	1	0
chr1	29317881	29317881	A	C	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon25:c.A3638C:p.D1213A,PTPRU:NM_133178:exon25:c.A3647C:p.D1216A,PTPRU:NM_005704:exon26:c.A3677C:p.D1226A,PTPRU:NM_133177:exon26:c.A3665C:p.D1222A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.132635592698	.	.	4.129e-05	0	0	0	0	3.005e-05	0	0.0002	3.23e-05	5	154602	rs773499522	1.437e-05	1.436e-05	6.807e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	0.0001	8.646e-05	0	0	0	0	0	0	4.496e-06	1.656e-05	0.0002	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.96	0.55278	D	0.527	0.48453	P	0.000004	0.62929	D	0.060491	0.999888	0.50402	D	2.405	0.69568	M	-1.7	0.83072	D	-5.46	0.85541	D	0.504	0.59393	0.136	0.84815	D	0.552	0.83621	D	9	0.4149102	0.56475	T	0.132636	0.81497	D	0.628	0.85666	0.515	0.61459	0.542878478726	0.53941	0.5695513118796958	0.56883	1.01254877537	0.74827	0.516847968102	0.41183	T	0.510805	0.82701	D	-0.0804019	0.39651	T	-0.0570759	0.66536	T	0.878966987133026	0.52891	D	0.987001	0.95549	D	0.7060494	0.78389	0.64495593	0.79244	0.7060494	0.78390	0.64495593	0.79245	-6.678	0.52700	T	.	.	0.169	0.37178	B	.;.;.;.	.;.;.;.	4.257063	0.64661	24.7	0.99190302630149385	0.54965	0.99074	0.90844	D	AEFDBI	0.894826	0.83422	D	0.538591365358333	0.69390	5.350137	0.5334169836948	0.70254	5.477977	0.999993790922585	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.89	4.89	0.63387	9.318000	0.95450	9.419000	0.80746	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	14.152	0.64924	373	0.84140	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	118	chr1	29317881	.	A	C	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.862;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.587;SOR=0.704	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr1	30953904	30953904	C	T	exonic	PUM1	.	nonsynonymous SNV	PUM1:NM_001020658:exon15:c.G2401A:p.A801T,PUM1:NM_014676:exon15:c.G2401A:p.A801T	.	.	.	.	.	.	.	.	.	.	.	2325393	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0055857979005	.	.	1.649e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs769056716	2.121e-05	2.121e-05	2.722e-05	1.513e-05	5.974e-05	1.52e-05	1.324e-05	1.746e-05	1.503e-05	5.974e-05	0	0	0	0	0	2.518e-05	0	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	2.406e-05	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0	0	0	0	0.0005	0	0.582	0.05954	T	0.671	0.07267	T	0.014	0.38124	B	0.006	0.38982	B	0.000000	0.84330	D	0.046357	0.999979	0.58761	D	-0.975	0.01213	N	2.26	0.17761	T	0.03	0.06612	N	0.156	0.16168	-0.9204	0.45499	T	0.182	0.52950	T	10	0.08339122	0.13866	T	0.005586	0.14409	T	0.085	0.24743	0.291	0.25241	0.168254554758	0.16434	0.531768137753751	0.53101	0.957206127568	0.72872	0.676646113396	0.63788	T	0.007576	0.35615	T	-0.209378	0.19466	T	-0.538534	0.18440	T	0.129850805056738	0.15368	T	0.693131	0.30283	T	0.08979103	0.20991	0.1914966	0.42611	0.08979103	0.20990	0.1914966	0.42610	-3.639	0.19082	T	.	.	0.066	0.03301	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.838029	0.78954	27.0	0.95148703239728294	0.26279	0.95521	0.65052	D	AEFBI	.	.	.	0.268650997074287	0.54567	3.621961	0.408444976422288	0.62091	4.418745	0.999457264814229	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.352000	0.51954	2.790000	0.34790	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.998000	0.85391	0.0:1.0:0.0:0.0	19.813	0.96552	946	0.12043	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	973.43	33	chr1	30953904	.	C	T	973.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=390;ExcessHet=0;FS=2.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.483;SOR=1.033	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	9	0	1	0
chr1	31672480	31672480	G	A	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon47:c.C3041T:p.P1014L	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.203094384251	.	.	4.972e-05	0	0	0	0	8.996e-05	0	0	3.88e-05	6	154602	rs201592828	3.831e-05	3.831e-05	3.267e-05	4.4e-05	0.0001	3.025e-05	2.719e-05	5.805e-05	3.952e-05	2.987e-05	0.0001	0.0001	0	0	0	3.147e-05	0.0001	2.319e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	4.41e-05	0	0	0.016	0.58626	D	0.025	0.56192	D	0.0	0.02946	B	0.001	0.04355	B	0.053992	0.22762	N	0.468738	0.999997	0.08975	N	2.445	0.70938	M	-4.51	0.97672	D	-1.6	0.70553	N	0.113	0.10056	0.644	0.92465	D	0.890	0.96335	D	10	0.36017528	0.52668	T	0.203094	0.86857	D	0.367	0.68670	.	.	0.779824653679	0.77779	0.3004419152501345	0.29957	0.159810246619	0.18033	0.436811745167	0.30141	T	0.03539	0.23699	T	0.00325263	0.52102	T	-0.0354612	0.68006	D	0.0542824983268553	0.06237	T	0.335566	0.18382	T	0.046245262	0.07707	0.050649278	0.07992	0.046245262	0.07707	0.050649278	0.07992	-3.94	0.22903	T	.	.	0.07	0.03479	B	.;.	.;.	1.434191	0.18528	13.79	0.71911294523934299	0.09791	0.04857	0.10593	N	AEFDBHI	0.079322	0.16019	N	-0.553919058771677	0.20361	1.072777	-0.65894919550074	0.17990	0.9591237	0.999998130233323	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.45	2.54	0.29674	0.967000	0.28941	2.028000	0.30240	0.676000	0.76740	0.011000	0.18532	0.982000	0.30508	0.018000	0.11154	0.108:0.0:0.6791:0.2129	4.878	0.13021	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1246.43	36	chr1	31672480	.	G	A	1246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=427;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.823;SOR=0.776	GT:AD:DP:GQ:PL	0/1:65,53:118:99:1258,0,1465	9	0	1	0
chr1	31684159	31684159	C	T	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon32:c.G2233A:p.G745S	.	384	1127	10	1	0	12	0.00529568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802	.	0.0048	0.0161741	0.0107	0.0070	0.0018	0.0924	0.0465	0.0059	0	0.0071	0.0050193	776	154602	rs34770879	0.0056	0.0056	0.0056	0.0055	0.0428	0.0055	0.0054	0.0410	0.0403	0.0041	0.0013	0.0005	0.0428	0.0233	0.0025	0.0037	0.0099	0.0048	0.0077	0.0077	0.0069	0.0086	0.0599	0.0074	0.0072	0.0545	0.0523	0.0046	0	0.0025	0.0003	0.0599	0.0270	0.0034	0.0045	0.0066	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999842	0.49770	D	4.04	0.96988	H	-4.59	0.99321	D	-5.96	0.89211	D	0.954	0.96302	0.328	0.87999	D	0.954	0.98497	D	10	0.005669534	0.00126	T	.	.	.	0.802	0.93543	.	.	0.935797211501	0.93513	0.6373130916019192	0.63665	0.155481381707	0.17549	0.69817340374	0.66881	T	0.125655	0.65007	T	0.164547	0.70622	D	0.508375	0.94817	D	0.104977028647165	0.12895	T	0.960304	0.96302	D	0.8319353	0.86037	0.7904442	0.87673	0.8319353	0.86039	0.7904442	0.87674	-14.775	0.95303	D	.	.	0.253	0.54653	B	.;.	.;.	4.329691	0.66332	24.9	0.98617893667159107	0.43731	0.91905	0.54517	D	AEFDBHCI	0.722313	0.67228	D	0.865826348512691	0.89990	10.20486	0.714916726334186	0.83512	8.040875	0.999999999995919	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.440796	0.06475	0	0.584449	0.35598	0	.	.	5.49	5.49	0.81022	1.871000	0.39176	7.642000	0.63248	0.537000	0.25018	0.619000	0.27905	1.000000	0.68203	0.205000	0.22041	0.0:1.0:0.0:0.0	15.250	0.73227	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007812	0.005618	0.009777	0.003030	0.000000	0.008929	0.012579	0.000000	0.05	641.43	35	chr1	31684159	.	C	T	641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=399;ExcessHet=0;FS=1.878;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=1.3;SOR=0.928	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1195	9	0	1	0
chr1	31684597	31684597	G	C	exonic	COL16A1	.	nonsynonymous SNV	COL16A1:NM_001856:exon31:c.C2086G:p.P696A	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.0765955497944	8.4e-05	.	2.522e-05	0	0	0	0	4.584e-05	0	0	1.94e-05	3	154602	rs377043093	8.21e-06	8.209e-06	5.446e-06	1.1e-05	0.0002	4.38e-06	3.46e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.993e-06	1.656e-05	0	2.629e-05	2.627e-05	0	5.382e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.411e-05	0	0	0.03	0.54683	D	0.154	0.53788	T	0.573	0.44546	P	0.429	0.53151	B	0.002267	0.36887	N	0.248268	0.876289	0.35661	D	1.835	0.48228	L	-3.28	0.93691	D	-3.15	0.72820	D	0.437	0.47580	0.878	0.95380	D	0.819	0.93916	D	10	0.5891465	0.66281	D	0.076596	0.72570	D	0.421	0.73005	.	.	0.829241270865	0.82761	0.17754249720578824	0.17673	0.151647942823	0.17117	0.496607005596	0.38354	T	0.425452	0.89230	T	0.054015	0.58859	T	-0.0965418	0.63665	T	0.357451170682907	0.27309	T	0.806319	0.82717	T	0.08333024	0.19237	0.09757449	0.23231	0.08333024	0.19237	0.09757449	0.23231	-6.166	0.47647	T	.	.	0.060	0.01762	B	.;.	.;.	2.298529	0.29410	18.11	0.84922125092697331	0.15578	0.70850	0.34763	D	AEFBCI	0.179001	0.30628	N	0.136567376358042	0.48175	3.033292	0.106858944528845	0.44898	2.762788	0.999998487998514	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.638833	0.57524	0	.	.	5.34	5.34	0.75982	1.897000	0.39430	8.692000	0.78080	0.676000	0.76740	0.971000	0.34370	1.000000	0.68203	0.012000	0.09680	0.0:0.0:1.0:0.0	14.931	0.70564	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1306.43	36	chr1	31684597	.	G	C	1306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=411;ExcessHet=0;FS=3.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.97;ReadPosRankSum=0.2;SOR=0.721	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr1	32207442	32207442	C	G	exonic	IQCC	.	nonsynonymous SNV	IQCC:NM_001160042:exon5:c.C1001G:p.P334R,IQCC:NM_018134:exon5:c.C761G:p.P254R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00191194288042	7.7e-05	.	0.0002	0	8.691e-05	0	0	0.0003	0	6.085e-05	0.0001682	26	154602	rs375598262	0.0001	0.0001	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	2.987e-05	0.0002	7.653e-05	0	0	0.0010	0.0002	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	9.151e-05	7.706e-05	0.0001	9.901e-05	4.819e-05	0	0.0002	0	0	0	0.0034	0.0002	0.0005	0	0.013	0.58626	D	0.036	0.57587	D	0.001	0.07471	B	0.005	0.11217	B	0.036323	0.01816	N	2.152990	1	0.08975	N	0.97	0.24054	L	2.65	0.12676	T	-2.71	0.57762	D	0.082	0.06720	-0.9949	0.31326	T	0.020	0.08500	T	10	0.040947467	0.02707	T	0.001912	0.03377	T	0.041	0.10877	.	.	0.0138822411134	0.00435	0.0547202244965055	0.05413	0.0821638459929	0.09262	0.240643918514	0.02849	T	0.004912	0.04332	T	-0.556117	0.00268	T	-0.724221	0.04595	T	0.0306053340206516	0.02083	T	0.450755	0.12737	T	0.076394714	0.17274	0.0743323	0.16250	0.076394714	0.17274	0.0743323	0.16249	-3.273	0.14589	T	.	.	0.093	0.17317	B	.;.	.;.	0.926538	0.13016	9.521	0.72227951581247041	0.09900	0.03172	0.08149	N	AEFDGBCI	0.035225	0.04498	N	-1.17767507233897	0.05338	0.2431226	-1.26845253546914	0.04863	0.2304285	0.999979118373796	0.50053	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	3.81	-3.73	0.04112	-0.555000	0.06089	-0.193000	0.11018	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.2704:0.2365:0.3017:0.1915	0.743	0.00915	443	0.79878	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1536.43	34	chr1	32207442	.	C	G	1536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.173;DP=502;ExcessHet=0;FS=3.535;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=1.42;SOR=0.623	GT:AD:DP:GQ:PL	0/1:90,79:169:99:1548,0,2161	9	0	1	0
chr1	32600229	32600229	T	C	exonic	ZBTB8A	.	nonsynonymous SNV	ZBTB8A:NM_001040441:exon5:c.T1136C:p.I379T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00241990515012	0.0030	0.000998403	0.0033	0.0013	0.0007	0	0.0009	0.0053	0.0011	0.0011	0.0033893	524	154602	rs142604487	0.0053	0.0053	0.0055	0.0052	0.0065	0.0052	0.0052	0.0064	0.0063	0.0007	0.0013	0.0003	0	0.0010	0.0016	0.0065	0.0055	0.0009	0.0030	0.0030	0.0033	0.0026	0.0050	0.0027	0.0026	0.0045	0.0044	0.0012	0	0.0026	0	0	0.0008	0	0.0050	0.0047	0.0006	0.379	0.11227	T	0.536	0.09897	T	.	.	.	.	.	.	0.032298	0.25050	U	0.415366	0.999998	0.58761	D	.	.	.	2.53	0.14038	T	-0.98	0.25986	N	0.274	0.31027	-0.9796	0.35094	T	0.011	0.03903	T	10	0.006718248	0.00152	T	0.00242	0.04757	T	0.047	0.12962	.	.	0.242825505644	0.23883	0.15417186741259037	0.15338	0.508974940275	0.49039	0.382187217474	0.22567	T	.	.	.	-0.64654	0.00076	T	-0.697761	0.05949	T	0.00389562423636306	0.00041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.13830	B	.	.	1.979033	0.25141	16.65	0.89283578691426624	0.18665	0.89638	0.50231	D	AEFDBHCIJ	0.248370	0.36879	N	-0.647700666945845	0.17528	0.9026817	-0.50083872641372	0.22131	1.200546	0.0758064022712143	0.15708	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.37	3.01	0.33872	2.813000	0.47701	3.334000	0.37651	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.997000	0.79791	0.0:0.0784:0.1486:0.773	7.097	0.24492	208	0.91895	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2363.43	33	chr1	32600229	.	T	C	2363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=530;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.21;SOR=0.811	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1302	9	0	1	0
chr1	32895665	32895665	C	T	exonic	TMEM54	.	nonsynonymous SNV	TMEM54:NM_001329723:exon3:c.G289A:p.A97T,TMEM54:NM_001329722:exon4:c.G349A:p.A117T,TMEM54:NM_033504:exon4:c.G349A:p.A117T	.	407	1105	10	0	0	10	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0231429787654	0.0002	0.000599042	0.0011	0	0	0	0	0.0013	0.0048	0.0016	0.000401	62	154602	rs34622520	0.0005	0.0005	0.0004	0.0005	0.0039	0.0005	0.0004	0.0026	0.0022	0.0002	0.0004	0.0051	0	0	0.0039	0.0003	0.0009	0.0018	0.0003	0.0003	0.0003	0.0004	0.0017	0.0003	0.0002	0.0008	0.0006	0.0001	0	0.0003	0.0020	0	0	0.0068	0.0003	0.0009	0.0017	0.044	0.41096	D	0.22	0.25907	T	0.999	0.77913	D	0.931	0.66596	D	0.000060	0.53742	D	0.168708	1	0.81001	D	2.6	0.76081	M	0.88	0.46028	T	-1.72	0.40850	N	0.345	0.38643	-0.7450	0.58195	T	0.205	0.56266	T	10	0.007438123	0.00169	T	0.023143	0.46083	T	0.169	0.43123	.	.	0.478905595755	0.47518	0.5883529052324505	0.58765	0.815431667459	0.66915	0.561129748821	0.47427	T	0.125754	0.45167	T	-0.389301	0.02718	T	-0.338765	0.40484	T	0.133774310350418	0.15726	T	0.817118	0.47377	T	0.09156814	0.21459	0.14800246	0.35003	0.09156814	0.21459	0.14800246	0.35002	-4.479	0.30613	T	.	.	0.088	0.11510	B	.	.	3.595061	0.50751	23.0	0.99929470913499452	0.99279	0.17835	0.20007	N	AEFDBI	0.160622	0.28658	N	0.324821971651083	0.57425	3.909777	0.227222408181146	0.51362	3.319509	0.999957797736377	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.09	5.09	0.68647	0.689000	0.25118	3.351000	0.37785	0.596000	0.33519	0.026000	0.20160	0.998000	0.33993	0.224000	0.22571	0.0:0.9141:0.0:0.0859	11.210	0.48023	479	0.77495	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004573	0.005155	0.006849	0.002924	0.000000	0.008772	0.003106	0.007576	0.1	1779.12	60	chr1	32895665	.	C	T	1779.12	.	AC=2;AF=0.1;AN=20;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.65;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1127	9	1	0	0
chr1	33625105	33625105	G	A	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon34:c.C5446T:p.L1816F,CSMD2:NM_052896:exon34:c.C5326T:p.L1776F	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0397671201126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.45756	T	0.016	0.60972	D	0.992	0.67487	D	0.917	0.72226	D	0.000001	0.84330	D	0.000000	0.998957	0.81001	D	2.48	0.72069	M	-0.23	0.66652	T	-1.37	0.34795	N	0.544	0.62526	-0.0486	0.81236	T	0.536	0.82825	D	10	0.45392996	0.58871	T	0.039767	0.58997	D	0.291	0.61040	0.463	0.53242	0.713242254277	0.71073	0.2562714461483835	0.25541	.	.	0.568041622639	0.48401	T	0.04929	0.28264	T	0.0495398	0.58284	T	-0.166616	0.57753	T	0.953926682472229	0.64142	D	0.916808	0.70203	D	0.20832162	0.43065	0.25479883	0.51151	0.20832162	0.43065	0.25479883	0.51150	-7.733	0.59237	D	.	.	0.086	0.11366	B	.;.;.;.	.;.;.;.	3.963560	0.58153	23.9	0.9986875180844812	0.94637	0.86990	0.46399	D	AEFDGBHCI	0.667404	0.63553	D	0.843118614872463	0.88711	9.682883	0.831833643253109	0.91912	11.13409	0.999999998711654	0.74766	0.77792	0.99625	0	0.615948	0.52940	0	0.854111	0.99894	0	0.584449	0.35598	0	.	.	6.16	6.16	0.99302	4.648000	0.61122	8.622000	0.77815	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.424	0.94724	469	0.78175	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	720.43	37	chr1	33625105	.	G	A	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.722;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=0.013;SOR=0.768	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1281	9	0	1	0
chr1	34212324	34212324	C	G	exonic	C1orf94	.	nonsynonymous SNV	C1orf94:NM_001134734:exon6:c.C1639G:p.P547A,C1orf94:NM_032884:exon6:c.C1069G:p.P357A	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	.	0.00439297	0.0027	0	0	0.0001	0	1.499e-05	0.0011	0.0194	0.0022574	349	154602	rs373171181	0.0012	0.0012	0.0006	0.0018	0.0187	0.0011	0.0011	0.0179	0.0176	2.987e-05	0	0	2.519e-05	0	0.0005	3.417e-05	0.0011	0.0187	0.0007	0.0007	0.0003	0.0010	0.0194	0.0005	0.0005	0.0162	0.0150	7.229e-05	0	0	0	0.0004	0	0	1.47e-05	0	0.0194	0.0	0.91255	D	0.0	0.92824	D	0.987	0.61912	D	0.849	0.60615	P	0.000406	0.44736	D	0.099352	0.524156	0.31921	D	1.625	0.41611	L	1.7	0.27822	T	-5.7	0.87380	D	0.501	0.53972	-0.6499	0.62719	T	0.151	0.47856	T	10	0.0063800216	0.00144	T	.	.	.	0.132	0.35948	.	.	0.544738774389	0.54127	0.37178014279075466	0.37092	0.197010425649	0.22071	.	.	.	0.022062	0.17072	T	-0.426871	0.01548	T	-0.371011	0.36771	T	0.170159305944066	0.18591	T	0.669833	0.27843	T	0.54448825	0.69648	0.5142958	0.71935	0.54448825	0.69649	0.5142958	0.71936	-3.744	0.20282	T	.	.	0.087	0.11220	B	.;.	.;.	2.850862	0.37639	20.5	0.99572670672526864	0.72501	0.73407	0.35908	D	AEFDBI	0.103673	0.20764	N	0.409477621458752	0.61941	4.402433	0.341976418535488	0.58027	3.970891	0.407444686760271	0.20183	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.18	4.25	0.49658	2.043000	0.40854	2.160000	0.30975	0.597000	0.34315	0.427000	0.26385	0.989000	0.31174	0.975000	0.56047	0.1879:0.8121:0.0:0.0	10.931	0.46432	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3269.43	36	chr1	34212324	.	C	G	3269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.018;DP=617;ExcessHet=0;FS=0.429;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.192;SOR=0.654	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1396	9	0	1	0
chr1	35746954	35746954	G	T	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon14:c.C2474A:p.A825D,CLSPN:NM_001330490:exon15:c.C2666A:p.A889D,CLSPN:NM_022111:exon15:c.C2666A:p.A889D	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00764341559897	.	0.000599042	7.413e-05	0	0	0	0	0	0	0.0005	7.76e-05	12	154602	rs534927658	3.626e-05	3.625e-05	2.45e-05	4.813e-05	0.0009	2.828e-05	2.565e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	6.295e-06	9.935e-05	0.0004	4.597e-05	4.593e-05	5.14e-05	4.028e-05	0.0010	2.108e-05	1.526e-05	0.0004	0.0003	4.812e-05	0	0	0	0	0	0	0	0	0.0010	0.061	0.61437	T	0.222	0.34477	T	0.256	0.35064	B	0.058	0.27859	B	0.012656	0.29101	N	0.406109	0.730193	0.33710	D	0.805	0.20218	L	1.68	0.27184	T	-1.78	0.43149	N	0.167	0.19995	-1.0254	0.21952	T	0.051	0.21728	T	10	0.020097435	0.00458	T	0.007643	0.20272	T	0.040	0.10527	0.22	0.14224	0.102598925029	0.09809	0.20164741232760422	0.20081	0.138008884758	0.15561	0.38619530201	0.23132	T	0.018607	0.14973	T	-0.505654	0.00531	T	-0.60332	0.12534	T	0.0444744267734707	0.04506	T	0.671533	0.28809	T	0.22756429	0.45460	0.3683398	0.62126	0.22756429	0.45460	0.3683398	0.62125	-3.939	0.22888	T	.	.	0.098	0.21428	B	.;.;.;.	.;.;.;.	3.318068	0.45624	22.2	0.99252396540917254	0.56924	0.96824	0.71137	D	AEFDBI	0.437166	0.49708	N	0.0574567241906632	0.44486	2.721787	0.216023813836379	0.50737	3.262537	0.998677923555027	0.37434	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	6.09	5.17	0.70848	4.866000	0.62702	6.917000	0.56917	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8703:0.1297	16.838	0.85827	207	0.91931	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2817.43	33	chr1	35746954	.	G	T	2817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.378;DP=526;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1089	9	0	1	0
chr1	35764667	35764667	C	A	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon3:c.G181T:p.V61F,CLSPN:NM_001330490:exon3:c.G181T:p.V61F,CLSPN:NM_022111:exon3:c.G181T:p.V61F	.	431	1089	2	0	0	2	0.000917431	.	.	.	2371948	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.0087830815466	.	.	0.0002	0	0	0.0001	0	4.632e-05	0	0.0013	0.0001617	25	154602	rs148367321	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0009	3.142e-05	0	0	5.069e-05	1.888e-05	0	0.0002	0.0003	0.0011	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	0.002	0.72154	D	0.12	0.51421	T	0.785	0.44430	P	0.258	0.39350	B	0.057353	0.22488	N	0.459798	0.971642	0.25642	N	2.42	0.70002	M	1.48	0.32958	T	-1.61	0.39119	N	0.251	0.28732	-1.0678	0.09903	T	0.056	0.23450	T	10	0.028873593	0.01016	T	0.008783	0.23172	T	0.018	0.03083	0.248	0.18447	0.0934897674506	0.08844	0.09250382552451873	0.09182	0.118575790678	0.13351	0.334983289242	0.15685	T	0.019693	0.15640	T	-0.451502	0.01107	T	-0.471768	0.25325	T	0.0988848583967573	0.12234	T	0.487551	0.16094	T	0.21532752	0.43962	0.13369219	0.32054	0.21532752	0.43962	0.13369219	0.32053	-5.025	0.39013	T	.	.	0.126	0.27523	B	.;.;.;.	.;.;.;.	1.326192	0.17311	13.09	0.99425898533871593	0.64032	0.76507	0.37528	D	AEFBI	0.083537	0.16925	N	-0.272023749363429	0.30233	1.683833	-0.160429118526701	0.33009	1.883757	0.999788028467876	0.43007	0.706298	0.61202	0	0.662677	0.63036	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.03	2.84	0.32241	0.861000	0.27540	0.869000	0.22297	-1.705000	0.00752	0.980000	0.35271	0.719000	0.26340	0.580000	0.30894	0.1273:0.6525:0.2201:0.0	12.396	0.54718	197	0.92378	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2339.12	34	chr1	35764667	.	C	A	2339.12	.	AC=2;AF=0.1;AN=20;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.99;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	9	1	0	0
chr1	36171234	36171234	C	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon2:c.C310T:p.R104W,MAP7D1:NM_001286366:exon2:c.C310T:p.R104W,MAP7D1:NM_018067:exon2:c.C310T:p.R104W	.	430	1085	7	0	0	7	0.00321543	.	.	.	718948	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0005	0.014377	0.0065	0.0011	0.0006	0.0403	0	0.0002	0.0081	0.0245	0.0058537	905	154602	rs2296266	0.0028	0.0028	0.0023	0.0032	0.0386	0.0027	0.0027	0.0370	0.0363	0.0004	0.0004	0.0004	0.0386	1.875e-05	0.0019	0.0002	0.0058	0.0219	0.0027	0.0027	0.0025	0.0029	0.0443	0.0025	0.0024	0.0396	0.0378	0.0009	0	0.0011	0	0.0443	0	0	0.0003	0.0014	0.0207	0.002	0.78490	D	0.014	0.62352	D	0.994	0.90584	D	0.653	0.64886	P	0.034645	0.24743	N	0.198819	0.998413	0.22169	N	1.5	0.37844	L	3.41	0.05574	T	-3.0	0.62343	D	0.283	0.34874	-1.0820	0.06965	T	0.016	0.06664	T	10	0.0029316545	0.00047	T	.	.	.	0.099	0.28413	.	.	0.082315109003	0.07666	0.18897196005309339	0.18815	0.568028422092	0.53036	0.450813233852	0.32055	T	0.022304	0.17222	T	-0.494798	0.00612	T	-0.451385	0.27544	T	0.0357868817457053	0.02943	T	0.946705	0.80601	D	0.16510792	0.36761	0.17283908	0.39568	0.16510792	0.36760	0.17283908	0.39567	-6.929	0.54609	T	.	.	0.103	0.26294	B	.;.;.;.;.	.;.;.;.;.	3.755369	0.53849	23.4	0.99895597151673843	0.96895	0.15874	0.19123	N	AEFDBI	0.207276	0.33346	N	-0.115112555309608	0.36734	2.127353	-0.207363474746172	0.31270	1.768137	0.999595846667756	0.40745	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.06	1.96	0.25203	0.699000	0.25264	2.128000	0.30762	0.587000	0.30956	0.000000	0.06391	0.971000	0.29754	0.833000	0.39279	0.6187:0.3813:0.0:0.0	11.831	0.51567	192	0.92531	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	305.43	43	chr1	36171234	.	C	T	305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=376;ExcessHet=0;FS=2.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=-0.019;SOR=1.159	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr1	36178424	36178424	G	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.G1603T:p.A535S,MAP7D1:NM_018067:exon10:c.G1714T:p.A572S,MAP7D1:NM_001286366:exon11:c.G1618T:p.A540S	.	411	1106	5	0	0	5	0.0022553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00880160566495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	2.736e-06	0	5.518e-06	0.0004	6.4e-07	4.3e-07	7.056e-05	2.942e-05	0	0	0	0	0	0.0004	9.001e-07	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.34621	T	0.363	0.18125	T	0.419	0.40609	B	0.275	0.40079	B	0.001694	0.38271	N	0.000000	1	0.81001	D	1.79	0.46772	L	2.64	0.12780	T	-1.01	0.28906	N	0.218	0.24385	-0.9949	0.31326	T	0.022	0.09238	T	10	0.10526258	0.19447	T	0.008802	0.23221	T	0.041	0.10877	0.175	0.08135	0.161926535498	0.15789	0.1592408061750861	0.15845	0.431555471661	0.43355	0.425890386105	0.28647	T	0.006707	0.06137	T	-0.237887	0.15619	T	-0.579484	0.14592	T	0.210925922063062	0.21001	T	0.848715	0.53056	T	0.079965174	0.18299	0.0939751	0.22222	0.079965174	0.18298	0.0939751	0.22221	-3.861	0.21794	T	.	.	0.085	0.10062	B	.;.;.	.;.;.	2.910457	0.38601	20.8	0.98677189039939472	0.44554	0.85996	0.45198	D	AEFDBCI	0.145189	0.26834	N	-0.397833627590146	0.25546	1.387534	-0.382412573233495	0.25522	1.404013	0.999973243865281	0.50053	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	2.59	0.30091	1.091000	0.30526	3.192000	0.36708	0.676000	0.76740	0.208000	0.24400	1.000000	0.68203	0.354000	0.25750	0.0963:0.1568:0.7469:0.0	9.024	0.35380	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	695.43	34	chr1	36178424	.	G	T	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.202;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.33;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1042:.	9	0	1	0
chr1	36178425	36178425	C	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon9:c.C1604T:p.A535V,MAP7D1:NM_018067:exon10:c.C1715T:p.A572V,MAP7D1:NM_001286366:exon11:c.C1619T:p.A540V	.	412	1105	5	0	0	5	0.00225734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00952563922711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	2.736e-06	0	4.138e-06	0.0004	5.5e-07	1.5e-07	7.048e-05	2.939e-05	0	0	0	0	0	0.0004	0	1.663e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.57480	D	0.14	0.34959	T	0.59	0.44504	P	0.275	0.40079	B	0.001694	0.38271	N	0.000000	0.550373	0.81001	D	1.79	0.46772	L	2.54	0.13916	T	-1.57	0.42575	N	0.138	0.13626	-1.0796	0.07426	T	0.028	0.11882	T	10	0.13770357	0.26194	T	0.009526	0.24947	T	0.059	0.16972	0.249	0.18602	0.102598925029	0.09809	0.19402327189147608	0.19320	0.526218639335	0.50253	0.45193707943	0.32209	T	0.013469	0.11642	T	-0.172023	0.24929	T	-0.484876	0.23930	T	0.816351711750031	0.47504	D	0.885211	0.61002	D	0.1693656	0.37448	0.17590159	0.40087	0.1693656	0.37448	0.17590159	0.40087	-5.237	0.39774	T	.	.	0.090	0.12702	B	.;.;.	.;.;.	3.816944	0.55095	23.6	0.99871579071747996	0.94902	0.93919	0.59572	D	AEFDBCI	0.481727	0.52290	N	-0.0832575852697836	0.38127	2.228298	-0.0575215193603278	0.37165	2.172503	0.999999999997304	0.74766	0.72623	0.87236	0	0.702456	0.74545	0	0.594344	0.31042	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	3.465000	0.52828	4.795000	0.44928	0.599000	0.40250	0.248000	0.24829	1.000000	0.68203	0.359000	0.25863	0.0:1.0:0.0:0.0	16.315	0.82749	152	0.94023	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	695.43	34	chr1	36178425	.	C	T	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.23;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1042:.	9	0	1	0
chr1	36308165	36308165	G	C	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon5:c.G262C:p.E88Q,SH3D21:NM_001162530:exon8:c.G595C:p.E199Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	3917812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.457	0.032545809901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.157e-07	6.84e-07	0	1.451e-06	9.277e-07	0	0	.	.	0	0	0	0	0	0	9.277e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	U	0.000000	0.994069	0.81001	D	.	.	.	2.02	0.21119	T	-2.79	0.59059	D	0.797	0.79310	-0.1456	0.79026	T	0.369	0.72864	T	10	0.81062025	0.80350	D	0.032546	0.54343	D	0.457	0.75551	.	.	0.422404719673	0.41854	0.7739890387523245	0.77348	0.399734681576	0.40989	0.546814799309	0.45408	T	.	.	.	0.103483	0.64667	D	-0.0891309	0.64227	T	0.994969308376312	0.86599	D	0.963304	0.86724	D	.	.	.	.	.	.	.	.	-10.773	0.79201	D	.	.	0.932	0.85185	P	.;.	.;.	4.733840	0.76271	26.5	0.99791992960063036	0.87750	0.95059	0.63288	D	AEFDBI	0.535457	0.55407	D	0.718595445744955	0.80852	7.386906	0.591027773745826	0.74295	6.112795	0.999999996599715	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.517000	0.66777	11.865000	0.98423	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.0:0.0:1.0:0.0	14.188	0.65160	126	0.94940	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1089.43	53	chr1	36308165	.	G	C	1089.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=466;ExcessHet=0;FS=3.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.083;SOR=0.368	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr1	36319756	36319756	C	A	exonic	SH3D21	.	nonsynonymous SNV	SH3D21:NM_024676:exon11:c.C760A:p.P254T,SH3D21:NM_001162530:exon14:c.C1093A:p.P365T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00243855083924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.02639	T	0.602	0.13752	T	0.017	0.17573	B	0.004	0.10090	B	0.000384	0.00589	N	4.340490	0.999998	0.08975	N	.	.	.	1.41	0.33412	T	0.25	0.04456	N	0.032	0.01658	-1.0722	0.08936	T	0.045	0.19437	T	10	0.029398263	0.01067	T	0.002439	0.04813	T	0.021	0.04004	.	.	0.0482279557977	0.04254	0.12635905994842528	0.12561	0.0726139888811	0.08138	0.1910918504	0.00245	T	.	.	.	-0.307873	0.07936	T	-0.680014	0.06982	T	0.196177318692207	0.20202	T	0.426857	0.11519	T	.	.	.	.	.	.	.	.	-0.731	0.00815	T	.	.	0.062	0.02145	B	.;.	.;.	-0.910913	0.00907	0.034	0.80219557440922995	0.13100	0.00125	0.00780	N	AEFDGBI	0.016911	0.00409	N	-1.38475300776244	0.02780	0.1232611	-1.40123763431813	0.03240	0.1507322	0.999986932244467	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.592323	0.36904	0	.	.	3.49	-0.639	0.10920	-0.447000	0.06901	2.200000	0.31279	-0.146000	0.12295	0.000000	0.06391	0.965000	0.29475	0.001000	0.02609	0.4113:0.2378:0.351:0.0	3.506	0.07249	127	0.94899	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	855.43	35	chr1	36319756	.	C	A	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.247;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.96;SOR=0.749	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	9	0	1	0
chr1	36456246	36456246	G	C	exonic	MRPS15	.	nonsynonymous SNV	MRPS15:NM_031280:exon7:c.C577G:p.P193A	.	431	1084	6	0	1	7	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	.	.	0.0103834	0.0060	0.0002	0.0003	0	0	6.008e-05	0.0022	0.0436	0.0052522	812	154602	rs201522148	0.0028	0.0028	0.0016	0.0040	0.0439	0.0027	0.0027	0.0427	0.0422	0.0001	0.0002	0	0.0002	0	0.0010	7.284e-05	0.0026	0.0439	0.0015	0.0015	0.0008	0.0023	0.0449	0.0014	0.0013	0.0400	0.0381	9.624e-05	0	0.0002	0	0.0004	0	0	8.835e-05	0.0005	0.0449	0.023	0.48186	D	0.029	0.54541	D	0.908	0.50127	P	0.527	0.48453	P	0.000006	0.62929	D	0.146573	0.999996	0.58761	D	2.14	0.59869	M	.	.	.	-5.4	0.85103	D	0.406	0.44666	-0.3091	0.74730	T	0.320	0.68882	T	9	0.004027784	0.00078	T	.	.	.	0.402	0.71558	.	.	0.637113853397	0.63413	0.43436745631338997	0.43353	0.597807685971	0.54967	0.380589306355	0.22339	T	0.388229	0.74896	T	-0.303701	0.08315	T	-0.177605	0.56744	T	0.0898948957610165	0.11206	T	0.713029	0.32487	T	0.22880065	0.45606	0.24839096	0.50388	0.22880065	0.45606	0.24839096	0.50387	-9.134	0.68555	D	.	.	0.200	0.42302	B	.	.	2.808836	0.36971	20.4	0.9930085584776398	0.58613	0.98848	0.87654	D	AEFBI	0.644050	0.62044	D	0.53193251129426	0.68988	5.293776	0.53074201271359	0.70068	5.451288	0.999995593311148	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.26	0.73479	6.279000	0.72647	1.902000	0.29588	-0.107000	0.15377	1.000000	0.71638	0.979000	0.30280	0.935000	0.47363	0.0:0.0:0.8634:0.1366	15.845	0.78661	126	0.94940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.05	709.43	33	chr1	36456246	.	G	C	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.485;DP=370;ExcessHet=0;FS=0.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.232;SOR=0.475	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1257	9	0	1	0
chr1	37475591	37475591	C	T	exonic	ZC3H12A	.	nonsynonymous SNV	ZC3H12A:NM_001323550:exon2:c.C95T:p.P32L,ZC3H12A:NM_025079:exon2:c.C95T:p.P32L	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00607492430841	0.0020	0.00119808	0.0021	0.0002	0.0004	0	0.0077	0.0026	0.0033	0.0013	0.002128	329	154602	rs115805535	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0023	0.0022	0.0001	0.0007	0.0002	0	0.0087	0.0028	0.0024	0.0017	0.0016	0.0018	0.0018	0.0017	0.0019	0.0037	0.0017	0.0016	0.0024	0.0020	0.0004	0	0.0011	0.0003	0	0.0069	0.0068	0.0021	0.0019	0.0037	0.023	0.48186	D	0.017	0.60337	D	0.001	0.07471	B	0.002	0.06944	B	0.511821	0.05151	N	1.305210	0.999999	0.08975	N	2.47	0.71715	M	1.94	0.22678	T	-1.22	0.30964	N	0.245	0.27673	-1.0001	0.29888	T	0.043	0.18535	T	10	0.0036097467	0.00065	T	0.006075	0.15875	T	0.027	0.05988	.	.	0.110392049598	0.10638	0.4266768981780453	0.42584	0.550453853848	0.51914	0.331350296736	0.15138	T	0.099441	0.40426	T	-0.530672	0.00380	T	-0.532715	0.19017	T	0.0248165175544157	0.01248	T	0.755524	0.37862	T	0.036713094	0.04569	0.064831436	0.13050	0.036713094	0.04569	0.064831436	0.13050	-4.411	0.29706	T	.	.	0.070	0.03661	B	.	.	1.055195	0.14367	10.94	0.94398696096965262	0.24786	0.23600	0.22128	N	AEFDGBHCI	0.056063	0.10334	N	-0.897462391982019	0.10902	0.5233444	-0.965312171067998	0.10570	0.5331936	0.999999953356524	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	4.13	2.16	0.26663	1.300000	0.33040	0.991000	0.23192	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:0.7161:0.1818:0.1021	6.587	0.21823	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1406.43	33	chr1	37475591	.	C	T	1406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=388;ExcessHet=0;FS=4.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=0.923;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1041:.	9	0	1	0
chr1	37475595	37475595	G	T	exonic	ZC3H12A	.	nonsynonymous SNV	ZC3H12A:NM_001323550:exon2:c.G99T:p.R33S,ZC3H12A:NM_025079:exon2:c.G99T:p.R33S	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00328558190096	0.0029	0.00139776	0.0024	0.0035	0.0004	0	0.0077	0.0026	0.0033	0.0013	0.0023674	366	154602	rs116208741	0.0024	0.0024	0.0024	0.0024	0.0035	0.0023	0.0023	0.0030	0.0028	0.0035	0.0009	0.0002	0	0.0087	0.0028	0.0024	0.0020	0.0017	0.0028	0.0028	0.0028	0.0029	0.0039	0.0026	0.0025	0.0033	0.0031	0.0038	0	0.0016	0.0003	0	0.0069	0.0068	0.0022	0.0038	0.0039	0.124	0.27426	T	0.873	0.03286	T	0.004	0.12183	B	0.002	0.06944	B	0.695913	0.06174	N	1.176120	1	0.08975	N	1.1	0.28011	L	2.03	0.20959	T	0.76	0.01978	N	0.072	0.04547	-0.9633	0.38547	T	0.031	0.13374	T	10	0.0050076246	0.00108	T	0.003286	0.07268	T	0.023	0.04649	0.171	0.07655	0.043077524339	0.03247	0.10926685133256654	0.10855	0.591322331779	0.54571	0.241275086999	0.02906	T	0.032812	0.22648	T	-0.611671	0.00124	T	-0.649065	0.09019	T	0.0066728707799811	0.00075	T	0.424758	0.11367	T	0.09235534	0.21664	0.0643721	0.12892	0.09235534	0.21664	0.0643721	0.12891	-1.722	0.02287	T	.	.	0.100	0.17016	B	.	.	0.596231	0.09647	6.419	0.72764252282045094	0.10087	0.09879	0.15533	N	AEFDGBHCI	0.079442	0.16045	N	-1.09756894888903	0.06688	0.3085805	-1.126291124345	0.07200	0.3493778	0.999999840475249	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	4.13	2.18	0.26813	2.261000	0.42932	1.376000	0.25995	-0.153000	0.12021	0.939000	0.32602	0.042000	0.21616	0.005000	0.06747	0.0935:0.0:0.7323:0.1742	6.778	0.22818	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1409.43	33	chr1	37475595	.	G	T	1409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.566;DP=386;ExcessHet=0;FS=4.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=1.11;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1041:.	9	0	1	0
chr1	37540562	37540562	G	A	exonic	SNIP1	.	nonsynonymous SNV	SNIP1:NM_024700:exon3:c.C521T:p.A174V	Psychomotor retardation, epilepsy, and craniofacial dysmorphism, Autosomal recessive	0	1475	43	4	0	51	0.0169943	.	.	.	780678	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00549252527432	0.0009	0.00119808	0.0013	0.0002	0.0009	0	0	0.0017	0.0022	0.0021	0.0013195	204	154602	rs147613529	0.0011	0.0011	0.0009	0.0012	0.0298	0.0010	0.0010	0.0262	0.0248	0.0007	0.0011	0.0010	2.519e-05	0.0001	0.0298	0.0009	0.0018	0.0023	0.0011	0.0011	0.0010	0.0011	0.0022	0.0009	0.0009	0.0016	0.0014	0.0001	0	0.0022	0.0017	0.0002	9.446e-05	0.0340	0.0014	0.0052	0.0008	0.124	0.27426	T	0.276	0.21947	T	0.329	0.33227	B	0.023	0.19966	B	0.067788	0.21716	N	0.510605	0.999944	0.19238	N	2.015	0.55033	M	2.38	0.15843	T	-0.93	0.24898	N	0.079	0.05414	-1.0041	0.28725	T	0.015	0.06090	T	10	0.009179503	0.00207	T	0.005493	0.14136	T	0.022	0.04323	.	.	0.334371577756	0.33041	0.1118918308378245	0.11118	0.57562879392	0.53556	0.431181848049	0.29370	T	0.064636	0.32485	T	-0.556262	0.00267	T	-0.577976	0.14725	T	0.00548965172254646	0.00060	T	0.781422	0.41649	T	0.030039353	0.02599	0.04352365	0.05435	0.030039353	0.02598	0.04352365	0.05435	-4.586	0.31995	T	0.16506830311396595	0.20438	0.108	0.20274	B	.	.	2.022329	0.25697	16.86	0.96986741076784078	0.31883	0.76618	0.37591	D	AEFBCI	0.101475	0.20381	N	-0.56430966759153	0.20036	1.053331	-0.477086120203942	0.22786	1.239378	1.50552123411097E-4	0.05573	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	1.91	0.24841	2.197000	0.42329	2.652000	0.33822	-0.169000	0.11342	1.000000	0.71638	1.000000	0.68203	0.191000	0.21631	0.0824:0.0:0.4389:0.4787	7.539	0.26898	927	0.17636	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.025680	0.000000	0.043478	0.023392	0.000000	0.034483	0.015244	0.007576	0.05	1933.43	126	chr1	37540562	.	G	A	1933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.795;DP=441;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.074;SOR=0.53	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	9	0	1	0
chr1	37857470	37857470	G	T	exonic	MTF1	.	nonsynonymous SNV	MTF1:NM_005955:exon2:c.C189A:p.D63E	.	8	1509	5	0	0	5	0.00165399	.	.	.	696718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.166	.	0.0062	0.00259585	0.0096	0.0011	0.0007	0	0.0295	0.0139	0.0088	0.0007	0.0093013	1438	154602	rs41267341	0.0094	0.0094	0.0097	0.0091	0.0106	0.0093	0.0092	0.0104	0.0104	0.0016	0.0011	0	0	0.0264	0.0010	0.0106	0.0061	0.0007	0.0073	0.0074	0.0071	0.0075	0.0107	0.0070	0.0068	0.0101	0.0098	0.0016	0.0318	0.0009	0	0	0.0250	0	0.0107	0.0033	0.0008	0.635	0.05076	T	1.0	0.01155	T	0.139	0.27501	B	0.055	0.25995	B	0.000000	0.84330	D	0.049574	0.990873	0.24113	N	0.525	0.13617	N	3.12	0.08106	T	-0.67	0.19297	N	0.156	0.16168	-1.0497	0.14481	T	0.005	0.01506	T	10	0.001942426	0.00027	T	.	.	.	0.166	0.42578	0.304	0.27325	0.368770208536	0.36493	0.28210966629395823	0.28123	1.10674519468	0.77915	0.523692309856	0.42146	T	.	.	.	-0.620519	0.00109	T	-0.647853	0.09104	T	0.00484275242672533	0.00052	T	0.711729	0.32279	T	0.1058727	0.25032	0.067161396	0.13856	0.1058727	0.25032	0.067161396	0.13855	-2.349	0.04830	T	.	.	0.175	0.38245	B	.	.	-1.774560	0.00166	0.002	0.79552786494980054	0.12794	0.07678	0.13683	N	AEFBI	0.118550	0.23177	N	-1.8798017172648	0.00378	0.01623017	-1.83812928703088	0.00644	0.02865607	0.999999996327996	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.62	-8.4	0.00843	-2.032000	0.01514	-2.755000	0.03395	-1.324000	0.01223	0.000000	0.06391	0.000000	0.08366	0.254000	0.23365	0.6024:0.0744:0.3232:0.0	13.711	0.62148	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2355.43	35	chr1	37857470	.	G	T	2355.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=525;ExcessHet=0;FS=1.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.296;SOR=0.75	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	9	0	1	0
chr1	37887425	37887428	GAAA	-	exonic	INPP5B	.	frameshift deletion	INPP5B:NM_001297434:exon5:c.445_448del:p.F149Tfs*26,INPP5B:NM_001350227:exon5:c.277_280del:p.F93Tfs*26,INPP5B:NM_001350228:exon8:c.277_280del:p.F93Tfs*26,INPP5B:NM_001365822:exon10:c.871_874del:p.F291Tfs*26,INPP5B:NM_001365825:exon10:c.580_583del:p.F194Tfs*26,INPP5B:NM_001365820:exon11:c.937_940del:p.F313Tfs*26,INPP5B:NM_001365821:exon11:c.931_934del:p.F311Tfs*26,INPP5B:NM_005540:exon11:c.937_940del:p.F313Tfs*26,INPP5B:NM_001365823:exon12:c.742_745del:p.F248Tfs*26,INPP5B:NM_001365824:exon12:c.742_745del:p.F248Tfs*26	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757917377	6.844e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1613.39	36	chr1	37887424	.	TGAAA	T	1613.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=439;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.919;SOR=0.547	GT:AD:DP:GQ:PL	0/1:74,44:118:99:1625,0,2954	9	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	140.44	33	chr1	38018559	.	G	C	140.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.037;DP=537;ExcessHet=0;FS=64.437;InbreedingCoeff=-0.0538;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.357;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,991:.	9	0	1	0
chr1	38018561	38018564	GGGT	-	exonic	UTP11	.	frameshift deletion	UTP11:NM_016037:exon4:c.326_329del:p.R109Mfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.578e-05	6.777e-05	2.184e-05	9.651e-06	3e-05	1.051e-05	8.78e-06	1.217e-05	1.033e-05	3e-05	0	0	0	0	0	1.894e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	137.39	33	chr1	38018560	.	AGGGT	A	137.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.642;DP=612;ExcessHet=0;FS=60.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.212;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,991:.	9	0	1	0
chr1	38018564	38018564	-	CCCC	exonic	UTP11	.	frameshift insertion	UTP11:NM_016037:exon4:c.329_330insCCCC:p.A111Pfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	155.39	40	chr1	38018564	.	T	TCCCC	155.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.057;DP=574;ExcessHet=0;FS=60.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=-0.182;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,991:.	9	0	1	0
chr1	39292767	39292767	G	T	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon16:c.G1931T:p.G644V	.	436	1053	30	3	0	36	0.0168067	0.0862	0.118	.	707402	not_provided|Lissencephaly_9_with_complex_brainstem_malformation	MedGen:C3661900|MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.407	.	0.0057	0.0061901	0.0054	0.0090	0.0046	0.0027	0.0017	0.0057	0.0135	0.0053	0.0045213	699	154602	rs139995582	0.0039	0.0039	0.0037	0.0041	0.0657	0.0038	0.0038	0.0602	0.0581	0.0082	0.0044	0.0151	0.0016	0.0031	0.0657	0.0030	0.0080	0.0050	0.0059	0.0059	0.0058	0.0059	0.0079	0.0055	0.0054	0.0072	0.0069	0.0079	0.0297	0.0077	0.0164	0.0031	0.0035	0.0680	0.0036	0.0142	0.0033	0.182	0.23183	T	0.319	0.19188	T	.	.	.	.	.	.	.	.	.	.	0.999099	0.46054	D	.	.	.	-3.46	0.94508	D	-0.64	0.53420	N	0.536	0.59308	-0.0226	0.81785	T	0.540	0.83032	D	9	0.007428974	0.00169	T	.	.	.	0.407	0.71946	.	.	0.663463389151	0.66063	0.2719606755441549	0.27109	.	.	0.431831806898	0.29459	T	0.047915	0.42668	T	-0.156217	0.27343	T	0.00880123	0.70905	D	0.00550271441298207	0.00060	T	0.873913	0.62289	D	0.07105359	0.15700	0.15626097	0.36592	0.0642471	0.13612	0.11086408	0.26736	-6.513	0.50387	T	.	.	0.122	0.25560	B	.;.;.;.;.;.	.;.;.;.;.;.	3.131677	0.42320	21.5	0.975439539661204	0.34528	0.88553	0.48534	D	AEFBI	0.331998	0.43155	N	0.0541826292783003	0.44335	2.709463	0.215040670187335	0.50680	3.257699	0.99948405510215	0.39952	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.61	5.61	0.85347	3.037000	0.49465	9.949000	0.82714	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0731:0.0:0.7804:0.1465	9.169	0.36233	704	0.57414	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.049395	0.030612	0.051630	0.131579	0.000000	0.060345	0.009146	0.007576	0.05	382.43	35	chr1	39292767	.	G	T	382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.39;DP=275;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=0.596;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,979	9	0	1	0
chr1	39297693	39297693	G	T	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon20:c.G2444T:p.C815F	.	433	1086	3	0	0	3	0.00137931	.	.	.	696724	MACF1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.704	0.456115479237	0.0055	0.00199681	0.0051	0.0012	0.0022	0	0.0032	0.0075	0.0044	0.0031	0.0051487	796	154602	rs148207245	0.0079	0.0079	0.0081	0.0077	0.0094	0.0078	0.0077	0.0092	0.0091	0.0009	0.0020	0.0052	2.519e-05	0.0032	0.0010	0.0094	0.0065	0.0033	0.0050	0.0050	0.0054	0.0045	0.0082	0.0047	0.0046	0.0076	0.0074	0.0015	0.0209	0.0038	0.0055	0	0.0017	0	0.0082	0.0043	0.0023	0.001	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999973	0.58761	D	.	.	.	-4.76	0.98111	D	-9.83	0.99124	D	0.855	0.90932	0.929	0.96090	D	0.946	0.98222	D	9	0.024349898	0.00667	T	0.456115	0.94430	D	0.704	0.89376	.	.	0.949578187931	0.94904	0.4102661905157068	0.40942	.	.	0.639173030853	0.58446	T	0.173058	0.88137	T	0.237373	0.77412	D	0.577588	0.96324	D	0.117944940499817	0.14227	T	0.920408	0.91141	D	0.8187053	0.85133	0.8915793	0.94379	0.82597226	0.85626	0.88760906	0.94098	-9.918	0.73419	D	.	.	0.520	0.66532	A	.;.;.;.;.;.	.;.;.;.;.;.	3.743494	0.53615	23.4	0.9929754317282814	0.58505	0.99239	0.93282	D	AEFDBIJ	0.926404	0.90744	D	0.754594021743226	0.83204	7.956433	0.797480323276588	0.89616	10.050	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	8.030000	0.89164	11.885000	0.98936	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.621	0.99492	627	0.65350	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.007576	0.05	1946.43	39	chr1	39297693	.	G	T	1946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.761;DP=531;ExcessHet=0;FS=4.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.289;SOR=0.985	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	9	0	1	0
chr1	39310999	39310999	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon25:c.A3284G:p.E1095G	.	430	1086	6	0	0	6	0.00275482	0.8309	0.846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	0.23801608769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1008774166	5.483e-06	5.472e-06	2.727e-06	8.267e-06	0.0007	2.36e-06	1.71e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.7e-06	0	1.165e-05	6.568e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.048	0.76473	D	0.907	0.50062	P	0.574	0.49998	P	.	.	.	.	0.944403	0.41895	D	.	.	.	-0.29	0.88533	T	-6.43	0.93366	D	0.524	0.59053	0.763	0.93952	D	0.800	0.93248	D	9	0.7536801	0.75823	D	0.238016	0.88569	D	0.662	0.87381	0.261	0.20473	0.86476991348	0.86345	0.26161540624014595	0.26074	.	.	0.509648442268	0.40174	T	0.172124	0.88079	T	0.38793	0.89203	D	0.319458	0.89067	D	0.988248679572791	0.78603	D	0.959604	0.87634	D	0.4489126	0.63972	0.6944314	0.82011	0.4489126	0.63972	0.6944314	0.82012	-8.965	0.67659	D	.	.	0.252	0.48654	B	.;.;.;.;.;.	.;.;.;.;.;.	4.405645	0.68111	25.2	0.99916924930059536	0.98449	0.99886	0.99947	D	AEFBI	0.917979	0.88639	D	0.767122628802243	0.84016	8.171224	0.763115421097482	0.87136	9.118418	0.999999988731413	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.64	5.64	0.86480	9.322000	0.95579	11.248000	0.90647	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.873	0.78922	570	0.70478	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	438.43	33	chr1	39310999	.	A	G	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.99;DP=329;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.446;SOR=0.432	GT:AD:DP:GQ:PL	0/0:36,0:36:84:0,84,1260	9	0	1	0
chr1	39315649	39315649	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon26:c.A3422G:p.K1141R	.	431	1068	23	0	0	23	0.0106531	.	.	.	2127577	not_provided|MACF1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.380	0.0345361033051	0.0003	0.00119808	0.0007	0.0002	0.0003	0	0	0.0005	0	0.0031	0.0006921	107	154602	rs151139850	0.0005	0.0005	0.0004	0.0007	0.0076	0.0005	0.0005	0.0058	0.0052	0	0.0006	0.0005	0	0	0.0076	0.0003	0.0009	0.0036	0.0007	0.0007	0.0007	0.0007	0.0048	0.0006	0.0006	0.0033	0.0028	0.0002	0.0439	0.0003	0	0	0	0.0068	0.0004	0.0009	0.0048	0.216	0.58626	T	0.076	0.64786	T	0.993	0.65571	D	0.888	0.63021	P	.	.	.	.	0.959664	0.31396	N	.	.	.	-1.39	0.80387	T	-1.49	0.42191	N	0.572	0.61849	0.005	0.82361	D	0.595	0.85561	D	9	0.007915109	0.00180	T	0.034536	0.55743	D	0.380	0.69780	.	.	0.660878753513	0.65803	0.5317333108075932	0.53098	.	.	0.510408580303	0.40280	T	0.079662	0.56022	T	-0.231864	0.16402	T	-0.108884	0.62700	T	0.0492496037244489	0.05368	T	0.872813	0.58193	D	0.1292021	0.30185	0.2361403	0.48877	0.1292021	0.30184	0.2361403	0.48876	-5.149	0.39346	T	.	.	0.108	0.25689	B	.;.;.;.;.;.	.;.;.;.;.;.	2.913246	0.38653	20.8	0.99830827131387634	0.91284	0.97971	0.78532	D	AEFBI	0.658986	0.63006	D	0.352168965404022	0.58853	4.060316	0.429410384901609	0.63405	4.573555	0.999996552906235	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	4.265000	0.58663	8.138000	0.76675	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	16.422	0.83604	563	0.71062	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.008152	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1097.43	34	chr1	39315649	.	A	G	1097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=412;ExcessHet=0;FS=0.78;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.065;SOR=0.581	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1172	9	0	1	0
chr1	39322623	39322623	C	A	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon31:c.C4060A:p.L1354M	.	430	1082	10	0	0	10	0.00459982	.	.	.	971333	Spectraplakinopathy_type_I|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.196	0.074181002059	0.0008	0.000199681	0.0011	0.0005	0.0017	0	0.0008	0.0013	0	0.0012	0.0010931	169	154602	rs141025026	0.0011	0.0011	0.0011	0.0012	0.0031	0.0011	0.0011	0.0020	0.0017	0.0003	0.0014	0.0012	0	0.0005	0.0031	0.0012	0.0011	0.0014	0.0009	0.0009	0.0008	0.0009	0.0017	0.0007	0.0007	0.0012	0.0010	0.0002	0	0.0017	0.0014	0	0.0005	0.0034	0.0011	0.0033	0.0004	0.015	0.65419	D	0.078	0.65728	T	0.999	0.77913	D	0.965	0.71173	D	.	.	.	.	0.997146	0.54805	D	.	.	.	-0.43	0.71425	T	-1.13	0.33798	N	0.553	0.57860	-0.1046	0.79993	T	0.501	0.81134	D	9	0.03752166	0.02111	T	0.074181	0.71977	D	0.234	0.53644	.	.	0.676492767695	0.67374	0.24167956163382087	0.24081	.	.	0.780992388725	0.79077	T	0.082777	0.53003	T	-0.143071	0.29403	T	-0.00836763	0.69790	D	0.0589111484587193	0.06996	T	0.928807	0.74741	D	0.28034267	0.51082	0.20437068	0.44558	0.28034267	0.51081	0.20437068	0.44557	-9.351	0.72827	D	.	.	0.212	0.46214	B	.;.;.;.;.;.	.;.;.;.;.;.	3.447765	0.47999	22.5	0.99688708648307756	0.79775	0.96524	0.69570	D	AEFGBCI	0.534732	0.55365	D	0.496658169237262	0.66893	5.009675	0.561872396246422	0.72228	5.776739	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	2.206000	0.42416	0.609000	0.20011	0.599000	0.40250	1.000000	0.71638	0.094000	0.22579	0.997000	0.79791	0.0:1.0:0.0:0.0	20.478	0.99191	560	0.71333	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	2753.43	33	chr1	39322623	.	C	A	2753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.66;DP=505;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-1.426;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr1	39413578	39413578	A	G	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.A3313G:p.T1105A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00387143386036	.	.	.	.	.	.	.	.	.	.	0.0044183	115	26028	rs783822	0.0007	0.0006	0.0006	0.0007	0.0128	0.0006	0.0006	0.0104	0.0095	0.0011	0.0033	0.0014	0.0128	0.0025	0.0021	0.0004	0.0013	0.0026	0.0013	0.0008	0.0014	0.0013	0.0028	0.0009	0.0007	0.0012	0.0008	0.0028	0	0.0021	0.0022	0.0022	0.0010	0	0.0008	0	0.0026	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	-0.9491	0.41126	T	0.019	0.07939	T	9	0.005288273	0.00116	T	0.003871	0.09086	T	0.006	0.00375	.	.	0.043077524339	0.03247	.	.	0.0504775060377	0.05541	0.315991818905	0.12813	T	0.045417	0.27117	T	-0.776442	0.00012	T	-0.801229	0.01872	T	0.000437457842053846	0.00003	T	0.0607939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02342	B	.;.	.;.	-0.362137	0.02359	0.257	0.43054762521816714	0.03215	0.00255	0.01401	N	AEFBI	0.016902	0.00409	N	-1.62983930477449	0.01123	0.04876604	-1.57471085148324	0.01811	0.08247283	0.999525929055497	0.40175	0.722319	0.85440	0	0.379588	0.06130	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.86	1.59	0.22622	-2.150000	0.01376	-20.000000	0.00162	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3802:0.1494:0.4704:0.0	4.767	0.12507	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.044181	0.101124	0.017143	0.117647	0.150000	0.009259	0.012903	0.007812	0.05556	135.19	11	chr1	39413578	.	A	G	135.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.463;DP=152;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.056;MQ=43.65;MQRankSum=-0.683;QD=9.66;ReadPosRankSum=-0.56;SOR=0.12	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,370	8	0	1	1
chr1	40069786	40069786	C	T	exonic	CAP1	.	nonsynonymous SNV	CAP1:NM_001105530:exon9:c.C905T:p.A302V,CAP1:NM_001330502:exon9:c.C902T:p.A301V,CAP1:NM_001350476:exon9:c.C905T:p.A302V,CAP1:NM_001350477:exon9:c.C905T:p.A302V,CAP1:NM_001350479:exon9:c.C905T:p.A302V,CAP1:NM_001350480:exon9:c.C905T:p.A302V,CAP1:NM_001350481:exon9:c.C905T:p.A302V,CAP1:NM_001350482:exon9:c.C902T:p.A301V,CAP1:NM_001350483:exon9:c.C902T:p.A301V,CAP1:NM_001350485:exon9:c.C902T:p.A301V,CAP1:NM_006367:exon9:c.C905T:p.A302V,CAP1:NM_001350475:exon10:c.C905T:p.A302V,CAP1:NM_001350478:exon10:c.C905T:p.A302V,CAP1:NM_001350484:exon10:c.C902T:p.A301V	.	431	1075	14	2	0	18	0.00830258	.	.	.	3298832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00627107017972	0.0003	0.000199681	0.0005	0.0002	0.0003	0	0.0003	0.0005	0.0011	0.0012	0.0003946	61	154602	rs201677980	0.0004	0.0004	0.0004	0.0004	0.0069	0.0004	0.0004	0.0052	0.0046	0.0003	0.0009	0.0003	0	0.0004	0.0069	0.0003	0.0008	0.0008	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0010	0.0008	0.0002	0	0.0014	0	0	0.0006	0.0068	0.0005	0.0014	0.0010	0.01	0.56456	D	0.05	0.48336	T	0.837	0.46346	P	0.434	0.45506	B	0.000009	0.62929	D	0.111766	0.999705	0.50595	D	2.305	0.65957	M	2.76	0.11515	T	-2.01	0.46337	N	0.205	0.22998	-1.1838	0.00317	T	0.041	0.17615	T	10	0.038006812	0.02191	T	0.006271	0.16464	T	0.101	0.28911	.	.	0.350697349064	0.34675	0.34790820602998895	0.34704	0.342173482841	0.36152	0.506744980812	0.39768	T	0.068491	0.33471	T	-0.382951	0.02984	T	-0.394346	0.34044	T	0.0612388219738065	0.07363	T	0.770723	0.40088	T	0.27285254	0.50354	0.22329414	0.47203	0.27285254	0.50354	0.22329414	0.47202	-6.553	0.50800	T	.	.	0.075	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.291997	0.45147	22.1	0.9990005796791841	0.97199	0.94855	0.62564	D	AEFBCI	0.805473	0.73005	D	0.285680783092782	0.55421	3.706285	0.40573520871201	0.61922	4.399274	0.999999999968951	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.59	5.59	0.84677	4.447000	0.59762	3.357000	0.37830	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.598	0.91192	334	0.86273	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006579	0.000000	0.008152	0.008824	0.000000	0.034483	0.000000	0.000000	0.05	1512.43	34	chr1	40069786	.	C	T	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.073;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.63;SOR=0.7	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	9	0	1	0
chr1	40307755	40307755	C	A	exonic	COL9A2	.	nonsynonymous SNV	COL9A2:NM_001852:exon18:c.G902T:p.G301V	Epiphyseal dysplasia, multiple, 2, Autosomal dominant	0	225	1	0	0	1	0.00221729	0.0193	0.08	.	1486100	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.887	0.772824508068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372191928	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.964	0.55854	D	0.784	0.57456	P	0.000000	0.84330	D	0.047985	1	0.81001	D	4.495	0.98962	H	-6.29	0.99632	D	-7.58	0.95276	D	0.873	0.87049	1.002	0.97223	D	0.989	0.99701	D	10	0.99255085	0.99791	D	0.772825	0.98205	D	0.887	0.96725	0.869	0.96265	0.973521263946	0.97323	0.9417514987636503	0.94156	1.00163694838	0.74428	0.717937231064	0.69746	T	0.401803	0.75900	T	0.496798	0.94191	D	0.475839	0.94114	D	0.999542832374573	0.97846	D	0.989957	0.96858	D	0.9298715	0.94224	0.8306375	0.90226	0.9298715	0.94225	0.8306375	0.90226	-14.464	0.94467	D	.	.	0.640	0.70507	P	.	.	3.723659	0.53221	23.3	0.97556424223569482	0.34598	0.98706	0.85820	D	AEFDBI	0.762252	0.69972	D	0.785788468520018	0.85207	8.508282	0.667844402789374	0.79948	7.191116	0.999995534054997	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.64	5.64	0.86480	5.410000	0.66123	7.572000	0.60737	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:1.0:0.0:0.0	17.191	0.86761	413	0.81939	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1349.43	34	chr1	40307755	.	C	A	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.574;DP=409;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.24;ReadPosRankSum=-1.065;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	9	0	1	0
chr1	40547125	40547125	G	C	exonic	ZNF684	.	nonsynonymous SNV	ZNF684:NM_152373:exon5:c.G802C:p.E268Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.00465851455191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002962	0.35639	N	0.000000	0.983049	0.39965	D	1.64	0.41913	L	0.33	0.58323	T	-2.86	0.60188	D	0.2	0.22098	-0.4443	0.70588	T	0.301	0.67205	T	10	0.4455493	0.58373	T	0.004659	0.11566	T	0.235	0.53788	0.309	0.28128	0.303123707472	0.29912	0.02825999426629209	0.02775	0.40674524776	0.41549	0.448014676571	0.31673	T	0.142468	0.47808	T	-0.0377857	0.46277	T	-0.292053	0.45558	T	0.981740236282349	0.74087	D	0.693931	0.30359	T	0.34812194	0.56921	0.3328065	0.59125	0.34812194	0.56921	0.3328065	0.59124	-6.335	0.48999	T	.	.	0.147	0.32565	B	.;.	.;.	3.755443	0.53849	23.4	0.99718663152016718	0.81914	0.89047	0.49283	D	AEFDGBHCI	0.587761	0.58529	D	0.567873566761143	0.71178	5.611372	0.53371011611774	0.70273	5.480936	0.999997542826123	0.74766	0.566229	0.32551	0	0.546412	0.12157	0	0.463624	0.06942	0	0.674467	0.66132	0	.	.	4.29	4.29	0.50359	5.095000	0.64363	.	.	0.618000	0.50648	1.000000	0.71638	.	.	0.996000	0.76049	0.0:0.0:1.0:0.0	14.634	0.68277	451	0.79296	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1028.43	33	chr1	40547125	.	G	C	1028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.494;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-1.747;SOR=0.679	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr1	41009547	41009547	G	A	exonic	CTPS1	.	nonsynonymous SNV	CTPS1:NM_001301237:exon13:c.G1181A:p.R394Q,CTPS1:NM_001905:exon17:c.G1649A:p.R550Q	Immunodeficiency 24, Autosomal recessive	427	1093	2	0	0	2	0.000914077	.	.	.	627841	Severe_combined_immunodeficiency_due_to_CTPS1_deficiency	MONDO:MONDO:0014391,MedGen:C4014617,OMIM:615897,Orphanet:420573	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.051	0.00695252739234	.	.	9.899e-05	9.634e-05	0	0	0	0.0002	0	6.061e-05	7.76e-05	12	154602	rs776186929	5.199e-05	5.199e-05	4.356e-05	6.05e-05	0.0009	4.258e-05	3.888e-05	0.0003	0.0002	0.0001	2.236e-05	3.826e-05	2.519e-05	0	0.0009	4.946e-05	0.0001	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0001	8.668e-05	7.259e-05	6.807e-05	5.09e-05	4.82e-05	0	0.0001	0	0	0	0.0204	0.0001	0.0005	0	0.739	0.03708	T	0.681	0.06090	T	0.021	0.18474	B	0.004	0.10090	B	0.000086	0.51296	N	0.159006	0.999699	0.48338	D	0.475	0.13142	N	0.99	0.41750	T	-1.1	0.28497	N	0.245	0.27673	-1.0854	0.06335	T	0.051	0.21689	T	10	0.072362214	0.10793	T	0.006953	0.18402	T	0.051	0.14325	0.39	0.41279	0.685924971765	0.68324	0.37847154352061396	0.37762	1.08999781188	0.77402	0.395078271627	0.24383	T	0.181502	0.53319	T	-0.270449	0.11707	T	-0.410923	0.32118	T	0.0394966639578342	0.03599	T	0.906909	0.67118	D	0.10590062	0.25039	0.05134056	0.08243	0.10590062	0.25039	0.05134056	0.08243	-3.371	0.14669	T	.	.	0.100	0.34094	B	.;.;.;.;.;.	.;.;.;.;.;.	3.035452	0.40672	21.2	0.88049169394723936	0.17677	0.94375	0.60965	D	AEFDBI	0.446928	0.50278	N	-0.329907353891085	0.28017	1.541883	-0.102342439330566	0.35297	2.040319	0.999842445920366	0.43971	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.47	0.53770	4.882000	0.62813	9.870000	0.82121	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0862:0.0:0.9138:0.0	11.678	0.50704	645	0.63593	Glutamine amidotransferase;Glutamine amidotransferase;.;Glutamine amidotransferase;Glutamine amidotransferase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1041.43	44	chr1	41009547	.	G	A	1041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=423;ExcessHet=0;FS=0.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-0.081;SOR=0.838	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1255	9	0	1	0
chr1	41020513	41020516	AGAG	-	exonic	SLFNL1	.	frameshift deletion	SLFNL1:NM_001377532:exon1:c.145_148del:p.L49Mfs*5,SLFNL1:NM_144990:exon2:c.145_148del:p.L49Mfs*5,SLFNL1:NM_001168247:exon3:c.145_148del:p.L49Mfs*5,SLFNL1:NM_001300859:exon3:c.145_148del:p.L49Mfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0.0009	0	0	7.649e-05	0	0	3.84e-05	1	26028	rs773080616	7.254e-05	7.251e-05	7.899e-05	6.603e-05	0.0028	6.117e-05	5.702e-05	0.0017	0.0014	5.974e-05	0.0004	0.0002	0	0	0.0028	4.586e-05	0.0002	2.319e-05	7.231e-05	7.224e-05	8.995e-05	5.383e-05	0.0003	3.973e-05	3.128e-05	8.877e-05	5.386e-05	0	0	0.0003	0.0009	0	0	0	5.88e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2010.39	114	chr1	41020512	.	TAGAG	T	2010.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.675;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=0.752;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	9	0	1	0
chr1	41382210	41382211	CA	-	exonic	FOXO6	.	frameshift deletion	FOXO6:NM_001291281:exon3:c.1009_1010del:p.Q337Gfs*39	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	0.00073	19	26028	rs373524987	0.0043	0.0026	0.0045	0.0042	0.0067	0.0042	0.0042	0.0046	0.0041	0.0037	0.0031	0.0057	0.0067	0	0.0037	0.0043	0.0050	0.0039	4.089e-05	0.0013	5.307e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	289.49	4	chr1	41382209	.	CCA	C	289.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=86;ExcessHet=0.2348;FS=11.139;InbreedingCoeff=-0.1289;MLEAC=1;MLEAF=0.05;MQ=59.31;MQRankSum=0;QD=18.09;ReadPosRankSum=0.938;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:33:.:.:0,33,495:.	9	0	1	0
chr1	41382209	41382209	-	GGGACGCCCGCCTACTTCGGCGGCTG	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1008_1009insGGGACGCCCGCCTACTTCGGCGGCTG:p.Q337Gfs*166	.	632	828	31	5	26	67	0.0241603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013447	35	26028	.	0.0010	0.0006	0.0010	0.0009	0.0041	0.0009	0.0009	0.0014	0.0009	0.0007	0.0041	0.0008	0.0011	0.0036	0.0012	0.0010	0.0008	0.0012	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0001	0.0001	9.233e-05	0.0001	0.0022	0.0002	0	0.0002	0.0006	0.0034	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	289.49	4	chr1	41382209	.	C	CGGGACGCCCGCCTACTTCGGCGGCTG	289.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=86;ExcessHet=0.2348;FS=11.139;InbreedingCoeff=-0.1289;MLEAC=1;MLEAF=0.05;MQ=59.31;MQRankSum=0;QD=18.09;ReadPosRankSum=0.938;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:33:.:.:0,33,495:.	9	0	1	0
chr1	41382212	41382212	-	GGAC	exonic	FOXO6	.	frameshift insertion	FOXO6:NM_001291281:exon3:c.1011_1012insGGAC:p.A338Gfs*40	.	580	911	21	4	6	35	0.0156672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	.	0.0043	0.0026	0.0045	0.0042	0.0068	0.0042	0.0042	0.0048	0.0041	0.0038	0.0030	0.0057	0.0068	0	0.0037	0.0043	0.0048	0.0039	4.088e-05	0.0009	5.306e-05	2.803e-05	4.548e-05	1.768e-05	1.164e-05	1.207e-05	6.35e-06	0	0	0	0	0	0.0004	0	4.548e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	73.33	4	chr1	41382212	.	G	GGGAC	73.33	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.887;DP=88;ExcessHet=0;FS=6.368;InbreedingCoeff=-0.062;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:33:.:.:0,33,495:.	9	0	1	0
chr1	41484167	41484167	G	A	exonic	EDN2	.	nonsynonymous SNV	EDN2:NM_001302269:exon2:c.C101T:p.A34V,EDN2:NM_001956:exon2:c.C101T:p.A34V	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0122651103636	0.0045	0.00279553	0.0027	0.0082	0.0009	0	0.0010	0.0032	0.0012	0.0009	0.0027749	429	154602	rs41269471	0.0040	0.0040	0.0041	0.0039	0.0070	0.0039	0.0039	0.0063	0.0060	0.0070	0.0013	0.0005	2.519e-05	0.0013	0.0008	0.0046	0.0033	0.0010	0.0040	0.0040	0.0040	0.0039	0.0070	0.0037	0.0036	0.0064	0.0061	0.0070	0.0110	0.0022	0.0003	0	0.0009	0	0.0036	0.0014	0.0019	0.064	0.36509	T	0.108	0.37589	T	0.01	0.15535	B	0.005	0.11217	B	0.457989	0.12426	N	0.778015	1	0.08975	N	0.805	0.20218	L	-1.83	0.84122	D	-1.76	0.41618	N	0.044	0.01658	-0.8449	0.52318	T	0.248	0.61681	T	10	0.0042301714	0.00085	T	0.012265	0.30673	T	0.222	0.51872	.	.	0.613916450604	0.61080	0.3829799047832118	0.38212	0.102315109398	0.11580	0.310961782932	0.12052	T	0.174788	0.52413	T	-0.528483	0.00392	T	-0.526778	0.19610	T	0.00291602631789837	0.00030	T	0.432757	0.11777	T	0.039640546	0.05511	0.052177876	0.08547	0.039640546	0.05511	0.052177876	0.08546	-4.63	0.32546	T	.	.	0.075	0.05447	B	.	.	0.284610	0.06614	3.107	0.954432609125343	0.26952	0.11837	0.16893	N	AEFGBCI	0.091843	0.18600	N	-1.37567682903136	0.02867	0.1272399	-1.47596202287783	0.02543	0.1171249	0.999996142406548	0.74766	0.615755	0.39536	0	0.61073	0.52368	0	0.618376	0.41669	0	0.613276	0.41899	0	.	.	5.09	-5.41	0.02442	0.245000	0.17917	-1.147000	0.06192	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2125:0.2115:0.2525:0.3235	0.461	0.00482	463	0.78548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	822.43	37	chr1	41484167	.	G	A	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.127;DP=434;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.799;SOR=0.427	GT:AD:DP:GQ:PL	0/1:33,36:69:99:834,0,777	9	0	1	0
chr1	42735103	42735103	C	A	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_148960:exon5:c.G658T:p.G220C	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1401701	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.400	0.15966669736	.	0.000199681	6.897e-05	0	0.0003	0	0	7.774e-05	0	0	7.12e-05	11	154602	rs200491942	3.763e-05	3.762e-05	4.085e-05	3.439e-05	0.0005	2.96e-05	2.656e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0003	2.339e-05	3.314e-05	2.319e-05	4.597e-05	4.593e-05	5.139e-05	4.029e-05	0.0004	2.108e-05	1.526e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0.0005	0	0.0	0.91255	D	0.125	0.35330	T	1.0	0.90584	D	0.979	0.74454	D	0.336112	0.14036	N	0.696409	0.993412	0.81001	D	0.69	0.16971	N	-2.78	0.90962	D	-0.43	0.14390	N	0.174	0.18649	0.439	0.89671	D	0.679	0.88911	D	10	0.15017232	0.28408	T	0.159667	0.83982	D	0.400	0.71401	0.157	0.06070	0.956602318341	0.95614	0.585670720850032	0.58496	0.713328286402	0.61811	0.634899258614	0.57839	T	0.060458	0.31393	T	-0.101158	0.36234	T	-0.0211722	0.68951	D	0.151695059924951	0.17237	T	0.527047	0.17380	T	0.27199244	0.50269	0.21294896	0.45785	0.27199244	0.50269	0.21294896	0.45784	-6.344	0.49071	T	.	.	0.189	0.40650	B	.	.	4.784073	0.77568	26.7	0.99487688282733422	0.67235	0.97230	0.73460	D	AEFBI	0.813028	0.73561	D	0.439010585286741	0.63583	4.594759	0.487462776869659	0.67158	5.046715	0.999968282796807	0.48965	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.95	4.95	0.64894	1.940000	0.39851	4.839000	0.45267	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	14.018	0.64051	507	0.75469	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003788	0.05	1917.43	35	chr1	42735103	.	C	A	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.837;DP=455;ExcessHet=0;FS=3.043;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.6;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	9	0	1	0
chr1	42735803	42735803	G	C	exonic	CLDN19	.	nonsynonymous SNV	CLDN19:NM_001185117:exon3:c.C616G:p.Q206E	Hypomagnesemia 5, renal, with ocular involvement, Autosomal recessive	1	1499	22	0	0	22	0.00728477	.	.	.	1274749	Renal_hypomagnesemia_5_with_ocular_involvement|not_provided	MONDO:MONDO:0009548,MedGen:C4721891,OMIM:248190,Orphanet:2196|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0151173911199	.	0.000798722	0.0039	0.0021	0	0	0	0.0052	0.0062	0.0036	0.0012678	196	154602	rs199656937	0.0031	0.0030	0.0030	0.0032	0.0106	0.0030	0.0030	0.0085	0.0077	0.0008	0.0014	0.0071	2.794e-05	0.0005	0.0106	0.0033	0.0035	0.0034	0.0017	0.0017	0.0017	0.0018	0.0026	0.0016	0.0015	0.0023	0.0022	0.0006	0	0.0012	0.0040	0	0.0008	0.0103	0.0026	0.0028	0.0017	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.06	0.85875	D	0.34	0.03824	N	0.159	0.16586	-0.8451	0.52304	T	0.243	0.61095	T	9	0.0043708086	0.00089	T	0.015117	0.35666	T	0.118	0.32913	.	.	0.471132149292	0.46741	.	.	.	.	.	.	.	.	.	.	-0.439585	0.01300	T	-0.404081	0.32910	T	0.00960231344622355	0.00125	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-4.102	0.25320	T	.	.	0.085	0.10256	B	.	.	0.188582	0.05752	2.194	0.50048909106492712	0.04316	0.12048	0.17027	N	AEFBI	0.116089	0.22798	N	-1.18940987684387	0.05160	0.2345465	-1.17931876156142	0.06256	0.300566	0.945552775036207	0.27666	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.17	0.923	0.18539	-0.409000	0.07223	0.808000	0.21724	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1925:0.0:0.649:0.1585	5.542	0.16333	507	0.75469	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011076	0.016667	0.009915	0.020833	0.000000	0.009615	0.003145	0.007752	0.05	1664.43	33	chr1	42735803	.	G	C	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.37;SOR=0.69	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	9	0	1	0
chr1	42929978	42929978	T	G	exonic	SLC2A1	.	nonsynonymous SNV	SLC2A1:NM_006516:exon5:c.A574C:p.I192L	Dystonia 9, Autosomal dominant;GLUT1 deficiency syndrome 1, infantile onset, severe, Autosomal recessive, Autosomal dominant;GLUT1 deficiency syndrome 2, childhood onset, Autosomal dominant;Stomatin-deficient cryohydrocytosis with neurologic defects, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1924097	GLUT1_deficiency_syndrome_1,_autosomal_recessive	MedGen:C3149117	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.0195864361954	.	.	3.301e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs746393667	7.525e-06	7.524e-06	4.084e-06	1.1e-05	0.0001	4.04e-06	2.95e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000351	0.45440	D	0.263785	0.987856	0.24473	N	-1.09	0.01018	N	-1.47	0.81067	T	0.73	0.02068	N	0.306	0.34552	-0.9059	0.47343	T	0.102	0.37718	T	10	0.05052632	0.04798	T	0.019586	0.41992	T	0.289	0.60808	0.492	0.57890	0.657462711111	0.65460	0.3843957323784535	0.38354	0.892597622271	0.70285	0.326517850161	0.14409	T	0.360833	0.72701	T	-0.249157	0.14202	T	-0.321373	0.42424	T	0.00682215022509561	0.00077	T	0.839116	0.51273	T	0.0949636	0.22339	0.05095242	0.08103	0.0949636	0.22339	0.05095242	0.08103	-0.955	0.00951	T	0.0478990902359329	0.00718	0.085	0.10400	B	.	.	0.626891	0.09953	6.710	0.63440208245592966	0.07224	0.39773	0.26288	N	AEFBHCI	0.172851	0.29990	N	-1.38338385166213	0.02794	0.12387	-1.24306483178187	0.05235	0.2489247	0.999999469750395	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.16	-5.39	0.02457	0.294000	0.18803	-1.494000	0.05313	-0.120000	0.14102	0.123000	0.23227	0.000000	0.08366	0.983000	0.59808	0.1944:0.6054:0.0:0.2002	7.833	0.28515	396	0.82953	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2280.43	39	chr1	42929978	.	T	G	2280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=580;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=0.46;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1349:.	9	0	1	0
chr1	43156285	43156285	G	A	exonic	FAM183A	.	stopgain	FAM183A:NM_001101376:exon4:c.G377A:p.W126X	.	.	.	.	.	.	.	.	.	.	.	1325538	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0018	0.000399361	0.0009	0.0001	0.0003	0	0.0006	0.0013	0	0.0005	0.0009314	144	154602	rs149435229	0.0016	0.0016	0.0017	0.0016	0.0019	0.0016	0.0015	0.0019	0.0018	0.0002	0.0006	7.652e-05	0	0.0005	0.0003	0.0019	0.0014	0.0006	0.0012	0.0012	0.0014	0.0010	0.0024	0.0011	0.0010	0.0021	0.0020	0.0002	0	0.0002	0	0	0.0006	0	0.0024	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.40652	N	0.000000	0.980041	0.39625	D	.	.	.	.	.	.	.	.	.	0.089	0.07673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253972	0.78971	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	7.648845	0.96726	36	0.97406878149552589	0.33805	0.84425	0.43507	D	AEFDGBI	0.038151	0.05356	N	0.604688180851144	0.73471	5.971443	0.395382275877115	0.61278	4.325893	0.824809765041219	0.24588	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.07	4.07	0.46726	2.644000	0.46279	4.214000	0.42550	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	12.070	0.52912	435	0.80441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1058.43	33	chr1	43156285	.	G	A	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.255;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	9	0	1	0
chr1	43930190	43930190	G	A	exonic	ST3GAL3	.	nonsynonymous SNV	ST3GAL3:NM_001270462:exon8:c.G662A:p.R221H,ST3GAL3:NM_001270461:exon9:c.G755A:p.R252H,ST3GAL3:NM_174966:exon10:c.G803A:p.R268H,ST3GAL3:NM_001270460:exon11:c.G1004A:p.R335H,ST3GAL3:NM_001363573:exon11:c.G965A:p.R322H,ST3GAL3:NM_174969:exon11:c.G1049A:p.R350H,ST3GAL3:NM_001270459:exon12:c.G1007A:p.R336H,ST3GAL3:NM_006279:exon12:c.G1097A:p.R366H,ST3GAL3:NM_174964:exon12:c.G1142A:p.R381H,ST3GAL3:NM_174971:exon12:c.G1211A:p.R404H,ST3GAL3:NM_174963:exon13:c.G1304A:p.R435H,ST3GAL3:NM_174968:exon13:c.G1259A:p.R420H	Epileptic encephalopathy, early infantile, 15, Autosomal recessive;Mental retardation, autosomal recessive 12, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	206817	not_specified|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0211494722741	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs572958701	3.01e-05	3.01e-05	2.042e-05	3.988e-05	0.0004	2.282e-05	2.032e-05	0.0002	0.0001	2.987e-05	2.236e-05	7.652e-05	2.519e-05	0	0.0004	1.169e-05	4.969e-05	0.0002	1.313e-05	1.312e-05	1.284e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.416e-05	0	0	0	0.0002	0.155	0.32769	T	0.069	0.50514	T	0.006	0.15093	B	0.003	0.16012	B	0.028253	0.25631	N	0.415063	1	0.20249	N	.	.	.	1.56	0.65006	T	-0.74	0.20791	N	0.232	0.26111	-0.9352	0.43364	T	0.142	0.46294	T	9	0.056435257	0.06326	T	0.021149	0.43873	T	0.021	0.04004	0.62	0.75461	0.652461687722	0.64956	.	.	0.719543112965	0.62140	0.226073414087	0.01690	T	0.097858	0.40111	T	-0.278459	0.10831	T	-0.43511	0.29355	T	0.289073288440704	0.24551	T	0.775622	0.56644	T	0.01991817	0.00534	0.026841143	0.00797	0.01991817	0.00534	0.026841143	0.00796	-4.215	0.32347	T	0.17744362050500495	0.22694	0.079	0.26042	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.039193	0.14197	10.77	0.96700769070920733	0.30773	0.03873	0.09239	N	AEFGBCIJ	0.069104	0.13663	N	-0.937332622458763	0.09978	0.474737	-0.965098834218254	0.10575	0.5334674	0.999938417842289	0.46732	0.743674	0.98306	0	0.630245	0.54622	0	0.779548	0.98927	0	0.584449	0.35598	0	.	.	4.5	-2.07	0.06873	0.040000	0.13791	-0.543000	0.08571	-0.895000	0.02364	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.4454:0.0:0.5546:0.0	11.032	0.46995	143	0.94301	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1542.43	43	chr1	43930190	.	G	A	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.454;DP=485;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.297;SOR=0.896	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,108,1620	9	0	1	0
chr1	43972215	43972215	A	G	exonic	DPH2	.	nonsynonymous SNV	DPH2:NM_001039589:exon4:c.A542G:p.D181G,DPH2:NM_001319169:exon4:c.A821G:p.D274G,DPH2:NM_001319165:exon5:c.A998G:p.D333G,DPH2:NM_001319166:exon5:c.A953G:p.D318G,DPH2:NM_001319167:exon5:c.A647G:p.D216G,DPH2:NM_001319168:exon5:c.A998G:p.D333G,DPH2:NM_001319170:exon5:c.A647G:p.D216G,DPH2:NM_001319171:exon5:c.A782G:p.D261G,DPH2:NM_001384:exon5:c.A1226G:p.D409G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.28220818162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.036	0.52060	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.135	0.88152	M	.	.	.	-5.6	0.89029	D	0.679	0.68603	-0.1692	0.78448	T	0.427	0.77048	T	9	0.7415736	0.74995	D	0.282208	0.90271	D	0.463	0.75956	0.55	0.66576	0.69948658266	0.69688	0.8440117469127337	0.84362	1.01093469591	0.74771	0.68488073349	0.64970	T	0.402893	0.75980	T	0.259855	0.79517	D	0.135487	0.79251	D	0.980390548706055	0.73336	D	0.866813	0.59716	D	0.6886792	0.77440	0.6079229	0.77201	0.6886792	0.77441	0.6079229	0.77202	-3.816	0.21044	T	.	.	0.324	0.60378	B	.;.;.	.;.;.	4.155522	0.62368	24.4	0.98363578424553888	0.40668	0.95273	0.64083	D	AEFDBHCI	0.597984	0.59156	D	0.509847346424808	0.67669	5.112753	0.411432766905397	0.62274	4.440351	0.999999999988721	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.93	4.93	0.64394	3.048000	0.49552	9.396000	0.80612	0.729000	0.85517	1.000000	0.71638	1.000000	0.68203	0.349000	0.25636	1.0:0.0:0.0:0.0	12.475	0.55144	313	0.87327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2751.43	44	chr1	43972215	.	A	G	2751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=565;ExcessHet=0;FS=2.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.115;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1218	9	0	1	0
chr1	43977343	43977343	C	T	exonic	ATP6V0B	.	nonsynonymous SNV	ATP6V0B:NM_001294333:exon7:c.C718T:p.P240S	.	416	1098	8	0	0	8	0.00362976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.00179712	0.0019	0	0.0014	0	0	0.0003	0.0140	0.0053	0.0005498	85	154602	rs144973199	0.0005	0.0005	0.0004	0.0006	0.0047	0.0005	0.0005	0.0043	0.0041	6.222e-05	0.0003	0.0001	0	0	0.0016	0.0003	0.0008	0.0047	0.0004	0.0004	0.0004	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	4.811e-05	0	0.0016	0	0	0	0	0.0002	0.0009	0.0035	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.35	0.12847	N	0.126	0.11912	-1.0155	0.25175	T	0.044	0.19029	T	6	0.0036219954	0.00066	T	.	.	.	0.007	0.00512	.	.	0.043077524339	0.03247	0.4359435098946122	0.43511	.	.	.	.	.	0.008229	0.07566	T	-0.545466	0.00310	T	-0.55576	0.16777	T	0.00511638632547428	0.00055	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07602	B	.	.	-0.016545	0.04170	1.005	0.85239337389978642	0.15770	0.07734	0.13735	N	AEFBCI	0.071916	0.14335	N	-1.10842491069673	0.06492	0.2990216	-1.18576299632909	0.06147	0.294978	0.999379009753806	0.39355	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.322989	0.05693	1	.	.	3.4	0.383	0.15462	-1.321000	0.02805	-0.865000	0.07126	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.210000	0.22183	0.0:0.5161:0.235:0.2489	3.731	0.08019	308	0.87611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1760.43	36	chr1	43977343	.	C	T	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=471;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.065;SOR=0.779	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr1	43995943	43995943	G	A	exonic	CCDC24	.	nonsynonymous SNV	CCDC24:NM_001349129:exon7:c.G305A:p.R102Q,CCDC24:NM_001349128:exon8:c.G743A:p.R248Q,CCDC24:NM_001349127:exon9:c.G703A:p.G235S,CCDC24:NM_152499:exon9:c.G707A:p.R236Q	.	420	1057	43	2	0	47	0.0217492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0005	0.00399361	0.0032	0.0004	0.0003	0.0003	0	0.0010	0.0088	0.0182	0.0027425	424	154602	rs142384645	0.0018	0.0018	0.0012	0.0024	0.0182	0.0017	0.0017	0.0175	0.0172	0.0004	0.0004	0.0010	0.0002	5.62e-05	0.0153	0.0007	0.0025	0.0182	0.0011	0.0011	0.0008	0.0014	0.0172	0.0010	0.0009	0.0142	0.0131	9.621e-05	0	0.0008	0.0023	0.0004	0	0.0204	0.0007	0.0033	0.0172	0.662	0.04671	T	0.429	0.13752	T	0.003	0.11197	B	0.001	0.04355	B	0.320142	0.04069	N	1.550060	1	0.08975	N	-1.1	0.00987	N	.	.	.	0.13	0.05503	N	0.032	0.00825	-1.0559	0.12803	T	0.029	0.12409	T	9	0.001950413	0.00027	T	.	.	.	0.008	0.00669	.	.	0.0954503805726	0.09146	0.07001160870663188	0.06938	0.0444665148545	0.04800	0.235512048006	0.02400	T	6.65E-4	0.00291	T	-0.773633	0.00012	T	-0.869767	0.00744	T	0.000264297947003674	0.00002	T	0.620638	0.23835	T	0.022738144	0.00958	0.025527406	0.00600	0.022738144	0.00958	0.025527406	0.00600	-3.716	0.19555	T	.	.	0.063	0.01555	B	.	.	-0.148397	0.03363	0.598	0.7658612605579761	0.11527	0.01631	0.05259	N	AEFBCI	0.083598	0.16937	N	-1.65262587755734	0.01024	0.04440356	-1.69864411206519	0.01143	0.05141937	0.999789365406696	0.43007	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.5	-7.55	0.01185	-1.475000	0.02441	-0.405000	0.09385	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.124000	0.19330	0.1656:0.1152:0.4911:0.228	1.925	0.03114	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.000000	0.010870	0.029240	0.050000	0.000000	0.009146	0.015152	0.05	1735.43	33	chr1	43995943	.	G	A	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.45;DP=450;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.321;SOR=0.791	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	9	0	1	0
chr1	44701045	44701045	G	C	exonic	ARMH1	.	nonsynonymous SNV	ARMH1:NM_001145636:exon5:c.G565C:p.G189R	.	427	1091	4	0	0	4	0.00182983	.	.	.	2812759	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.205	.	0.0061	0.00319489	0.0048	0.0005	0.0024	0	0.0135	0.0076	0.0124	0.0013	0.0020051	310	154602	rs4322271	0.0070	0.0068	0.0073	0.0068	0.0078	0.0069	0.0069	0.0076	0.0076	0.0011	0.0065	0.0069	0	0.0109	0.0026	0.0078	0.0066	0.0012	0.0054	0.0054	0.0056	0.0051	0.0076	0.0051	0.0049	0.0071	0.0068	0.0014	0.0186	0.0062	0.0055	0	0.0085	0	0.0076	0.0080	0.0008	0.018	0.63226	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.43	0.56772	T	-5.19	0.83625	D	0.821	0.81658	-0.5268	0.67662	T	0.260	0.63066	T	10	0.009191453	0.00208	T	.	.	.	0.494	0.77973	.	.	0.203808441222	0.19973	0.7365968518368619	0.73604	.	.	.	.	.	0.316552	0.68808	T	-0.0405432	0.45869	T	0.178381	0.81903	D	0.0253349440291391	0.01317	T	0.922508	0.76517	D	0.69405615	0.77732	0.80958045	0.88874	0.69405615	0.77733	0.80958045	0.88874	-11.985	0.84778	D	.	.	0.968	0.89096	P	.;.;.;.	.;.;.;.	5.204782	0.87323	29.2	0.99943175025758968	0.99848	0.66957	0.33260	D	AEFBCI	0.861877	0.78003	D	0.551578394565844	0.70178	5.46357	0.635854040271539	0.77563	6.703158	0.999999999999846	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.11	6.11	0.99132	6.284000	0.72677	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.329	0.98710	0	0.99858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002457	0.000000	0.007812	0.000000	0.000000	0.000000	0.005814	0.000000	0.05	580.43	33	chr1	44701045	.	G	C	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.083;DP=381;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=0.189;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1056	9	0	1	0
chr1	44766875	44766875	A	G	exonic	KIF2C	.	nonsynonymous SNV	KIF2C:NM_001297655:exon19:c.A1898G:p.Y633C,KIF2C:NM_001297656:exon19:c.A1859G:p.Y620C,KIF2C:NM_001297657:exon19:c.A1682G:p.Y561C,KIF2C:NM_006845:exon20:c.A2021G:p.Y674C	.	.	.	.	.	.	.	.	.	.	.	3268960	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.686	0.105114770532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053975795	2.736e-06	2.736e-06	2.722e-06	2.75e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	1.159e-05	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.028	0.49613	D	0.021	0.59159	D	0.962	0.58756	D	0.846	0.62312	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.275	0.64647	M	-0.99	0.76037	T	-8.26	0.96915	D	0.85	0.84609	-0.2021	0.77617	T	0.339	0.70526	T	10	0.8004147	0.79451	D	0.105115	0.78006	D	0.686	0.88538	0.373	0.38503	0.825095527755	0.82344	0.7641538898779399	0.76363	1.15484510752	0.79333	0.661536097527	0.61630	T	0.176442	0.52639	T	0.360291	0.87274	D	0.279757	0.87110	D	0.991992712020874	0.82376	D	0.90391	0.66280	D	0.68445176	0.77210	0.6946919	0.82026	0.68445176	0.77211	0.6946919	0.82027	-3.352	0.24385	T	.	.	0.227	0.54718	B	.;.	.;.	4.661511	0.74412	26.2	0.99618031891766612	0.75233	0.99120	0.91519	D	AEFBHCI	0.921637	0.89541	D	0.436969885462199	0.63466	4.581077	0.488797387881352	0.67244	5.058398	0.999999999910495	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.527000	0.90409	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	1.0:0.0:0.0:0.0	15.997	0.80051	0	0.99858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4905.12	34	chr1	44766875	.	A	G	4905.12	.	AC=2;AF=0.1;AN=20;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.2;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	9	1	0	0
chr1	45012913	45012913	G	C	exonic	UROD	.	nonsynonymous SNV	UROD:NM_000374:exon2:c.G27C:p.Q9H	Porphyria cutanea tarda, Autosomal dominant;Porphyria, hepatoerythropoietic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	864495	Familial_porphyria_cutanea_tarda|not_specified|not_provided	MONDO:MONDO:0008296,MedGen:C0268323,OMIM:176100,Orphanet:101330,Orphanet:443062|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0506838942365	0.0002	.	7.567e-05	0	8.721e-05	0	0	0.0001	0	0	6.47e-05	10	154602	rs150027651	9.717e-05	9.714e-05	9.941e-05	9.491e-05	0.0001	8.379e-05	7.918e-05	9.613e-05	8.96e-05	0	2.237e-05	0.0004	0	0	0	0.0001	8.283e-05	0	5.929e-05	5.915e-05	7.723e-05	4.049e-05	6.569e-05	3.085e-05	2.215e-05	1.973e-05	1.125e-05	2.423e-05	0	6.569e-05	0.0009	0	0	0	5.884e-05	0	0	0.254	0.16903	T	0.311	0.19660	T	0.009	0.15093	B	0.009	0.14300	B	0.008225	0.30949	N	0.382752	1	0.08975	N	0.27	0.09956	N	-3.53	0.94764	D	-0.66	0.24026	N	0.289	0.32701	-0.4407	0.70707	T	0.514	0.81797	D	10	0.08211532	0.13516	T	0.050684	0.64345	D	0.201	0.48592	0.368	0.37687	0.945078011147	0.94450	0.6834013975892372	0.68279	0.438197802347	0.43858	0.328576415777	0.14718	T	0.206947	0.56643	T	-0.0795716	0.39783	T	-0.147525	0.59462	T	0.0415920302382287	0.03980	T	0.735926	0.35246	T	0.059924174	0.12234	0.041797135	0.04833	0.059924174	0.12234	0.041797135	0.04833	-5.365	0.40582	T	.	.	0.117	0.31203	B	.;.;.;.	.;.;.;.	2.286894	0.29245	18.06	0.83463738485573846	0.14740	0.92895	0.56810	D	ALL	0.436401	0.49664	N	-0.656715504612448	0.17265	0.8869372	-0.520795385792772	0.21589	1.168597	1.0	0.98316	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	6.07	4.16	0.48138	0.476000	0.21890	4.272000	0.42850	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.467000	0.28274	0.1483:0.0:0.506:0.3457	4.534	0.11422	719	0.55657	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2543.43	39	chr1	45012913	.	G	C	2543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=506;ExcessHet=0;FS=1.214;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=1.8;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	9	0	1	0
chr1	45088040	45088040	G	A	exonic	ZSWIM5	.	nonsynonymous SNV	ZSWIM5:NM_020883:exon2:c.C793T:p.R265C	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0767974187746	0.0041	0.00239617	0.0027	0.0008	0.0029	0	0.0008	0.0038	0.0033	0.0014	0.0028266	437	154602	rs116809634	0.0043	0.0043	0.0044	0.0042	0.0087	0.0042	0.0042	0.0068	0.0061	0.0008	0.0030	0.0021	2.519e-05	0.0004	0.0087	0.0050	0.0047	0.0011	0.0032	0.0032	0.0035	0.0029	0.0052	0.0030	0.0029	0.0048	0.0046	0.0012	0	0.0040	0.0014	0	0.0007	0.0068	0.0052	0.0033	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	0.64	0.52867	T	-5.87	0.88630	D	0.89	0.88909	-0.3013	0.74949	T	0.271	0.64277	T	10	0.03297335	0.01461	T	0.076797	0.72618	D	0.598	0.84074	.	.	0.858212518775	0.85684	0.7835790356711932	0.78308	0.550900486598	0.51946	0.836088776588	0.87498	D	0.572703	0.85878	D	-0.00590948	0.50838	T	0.220654	0.84205	D	0.0301943757762457	0.02019	T	0.956004	0.83260	D	0.6396926	0.74814	0.48607525	0.70255	0.6396926	0.74815	0.48607525	0.70255	-10.288	0.75618	D	.	.	0.681	0.72201	P	.	.	5.622251	0.92614	32	0.99934805239166158	0.99579	0.99230	0.93150	D	AEFBI	0.946912	0.95689	D	0.902704048203018	0.91890	11.11985	0.839654726346057	0.92398	11.40319	0.999999700124564	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.61	4.61	0.56724	10.003000	0.99689	8.605000	0.77744	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.335	0.90227	407	0.82314	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.005051	0.013587	0.005848	0.000000	0.000000	0.009146	0.000000	0.05	1890.43	34	chr1	45088040	.	G	A	1890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.537;SOR=0.668	GT:AD:DP:GQ:PL	0/1:77,78:155:99:1902,0,1731	9	0	1	0
chr1	46030732	46030732	C	A	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon22:c.C2679A:p.D893E,MAST2:NM_001324321:exon22:c.C2217A:p.D739E,MAST2:NM_015112:exon22:c.C2679A:p.D893E,MAST2:NM_001324320:exon23:c.C2700A:p.D900E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0199605274156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.934e-07	1.368e-06	0	1.395e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.567	0.12957	T	0.001	0.07471	B	0.005	0.11217	B	0.000006	0.62929	N	0.103873	0.958592	0.39122	D	1.62	0.41497	L	0.01	0.63077	T	-1.32	0.32991	N	0.139	0.17002	-1.0808	0.07194	T	0.118	0.41560	T	10	0.15230301	0.28772	T	0.019961	0.42451	T	0.169	0.43123	0.106	0.01810	0.629319392303	0.62629	0.31942604366470034	0.31855	0.182875825819	0.20567	0.533089518547	0.43470	T	0.009774	0.08877	T	-0.241489	0.15159	T	-0.584658	0.14132	T	0.535818755626678	0.33949	D	0.825317	0.49916	T	0.05016656	0.09022	0.035994753	0.02959	0.05016656	0.09021	0.035994753	0.02959	-3.439	0.15587	T	.	.	0.136	0.29560	B	.;.;.	.;.;.	1.762343	0.22416	15.61	0.96750325304630314	0.30957	0.96505	0.69474	D	AEFBI	0.438609	0.49793	N	-0.598467812313085	0.18992	0.9904715	-0.535431819696536	0.21194	1.145363	0.0560714513731315	0.15041	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.86	-1.93	0.07180	0.266000	0.18300	0.360000	0.17566	0.599000	0.40250	0.973000	0.34540	0.989000	0.31174	0.856000	0.40543	0.1147:0.4829:0.1193:0.2831	2.476	0.04296	90	0.96275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	508.43	40	chr1	46030732	.	C	A	508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.041;DP=393;ExcessHet=0;FS=3.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=-0.651;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	9	0	1	0
chr1	46185497	46185497	G	A	exonic	TSPAN1	.	nonsynonymous SNV	TSPAN1:NM_005727:exon9:c.G690A:p.M230I	.	413	1103	5	1	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.0883654677359	0.0028	0.00139776	0.0030	0.0005	0.0022	0	0.0032	0.0039	0.0033	0.0030	0.0028654	443	154602	rs34463133	0.0029	0.0029	0.0029	0.0029	0.0034	0.0028	0.0028	0.0032	0.0031	0.0004	0.0014	0.0003	0.0001	0.0023	0.0033	0.0032	0.0023	0.0034	0.0022	0.0022	0.0022	0.0021	0.0035	0.0020	0.0019	0.0030	0.0028	0.0007	0.0011	0.0012	0	0	0.0033	0	0.0033	0.0014	0.0035	0.163	0.23450	T	0.016	0.60972	D	0.957	0.54824	D	0.859	0.61184	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.4	0.69460	M	-1.16	0.78082	T	-2.68	0.57275	D	0.338	0.37923	-0.1596	0.78681	T	0.533	0.82709	D	10	0.013733625	0.00290	T	0.088365	0.75120	D	0.627	0.85615	0.658	0.79585	0.652953024311	0.65006	0.7969632555474615	0.79649	0.777021582019	0.65084	0.477970838547	0.35777	T	0.298677	0.67123	T	0.0068506	0.52596	T	0.235908	0.84954	D	0.0196533650159836	0.00668	T	0.849815	0.53298	T	0.62144357	0.73841	0.5577279	0.74415	0.62144357	0.73842	0.5577279	0.74416	-6.471	0.50062	T	.	.	0.895	0.82395	P	.	.	4.477672	0.69836	25.4	0.99572763326683877	0.72501	0.84188	0.43271	D	AEFDGBHCI	0.814069	0.73639	D	0.550366806505879	0.70105	5.452827	0.564604200701153	0.72420	5.806931	0.999999999999966	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.36	5.36	0.76624	6.395000	0.73157	9.977000	0.82899	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.230	0.82154	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1725.43	40	chr1	46185497	.	G	A	1725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.882;DP=495;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.11;SOR=0.665	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr1	46511063	46511063	T	A	exonic	DMBX1	.	nonsynonymous SNV	DMBX1:NM_147192:exon3:c.T477A:p.D159E,DMBX1:NM_172225:exon5:c.T462A:p.D154E	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0913191228614	.	.	0.0004	0	0	0	0	0.0003	0	0.0015	0.0003105	48	154602	rs200899250	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	0	4.473e-05	0.0019	0	0	0.0012	0.0001	0.0005	0.0017	0.0002	0.0002	0.0001	0.0003	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0005	0.0023	0	0	0.0034	7.35e-05	0	0.0015	0.565	0.06282	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.084077	0.20717	N	0.553031	0.999731	0.20771	N	-0.205	0.04094	N	-3.07	0.92938	D	0.11	0.05706	N	0.086	0.07673	-0.6266	0.63714	T	0.393	0.74656	T	10	0.006982118	0.00159	T	0.091319	0.75684	D	0.211	0.50185	0.158	0.06178	0.344740032716	0.34089	0.2479999156111008	0.24713	0.32656759674	0.34803	0.417535930872	0.27499	T	0.077742	0.35726	T	-0.509524	0.00505	T	-0.523687	0.19922	T	0.00951277754141228	0.00123	T	0.579842	0.22366	T	0.031391006	0.02970	0.034634586	0.02566	0.031391006	0.02969	0.034634586	0.02566	-2.896	0.09264	T	.	.	0.075	0.05360	B	.;.	.;.	0.066546	0.04760	1.382	0.74093178379257119	0.10567	0.10295	0.15841	N	AEFBI	0.121889	0.23677	N	-1.31706171184087	0.03480	0.15551	-1.22721476300897	0.05476	0.2610475	0.0132203857542701	0.12433	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.32	-0.24	0.12403	-0.262000	0.08706	-1.628000	0.05030	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.1386:0.4024:0.1542:0.3048	1.561	0.02438	85	0.96447	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1040.43	34	chr1	46511063	.	T	A	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.691;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1111	9	0	1	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	41.52	144	chr1	46613215	.	G	C	41.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.228;DP=1291;ExcessHet=0;FS=117.538;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=1.04;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:38:.:.:0,38,1834:.	6	0	1	3
chr1	47068677	47068677	G	T	exonic	CYP4Z1	.	nonsynonymous SNV	CYP4Z1:NM_178134:exon2:c.G233T:p.C78F	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00343735832487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.691	0.04289	T	0.695	0.05825	T	0.998	0.73220	D	0.942	0.67772	D	0.029331	0.25470	U	0.305869	0.996905	0.22861	N	1.87	0.49600	L	-0.31	0.68030	T	-2.02	0.46503	N	0.426	0.46555	-0.8303	0.53282	T	0.265	0.63630	T	10	0.31479478	0.48917	T	0.003437	0.07755	T	0.168	0.42943	0.255	0.19533	0.483670899158	0.47999	0.3433297364309384	0.34245	0.0796842656283	0.08968	0.365582019091	0.20196	T	0.015771	0.13166	T	-0.0564041	0.43466	T	-0.318797	0.42706	T	0.649656653404236	0.38447	D	0.158684	0.01414	T	0.19412911	0.41151	0.14794268	0.34991	0.19412911	0.41151	0.14794268	0.34990	-3.807	0.20909	T	.	.	0.135	0.29255	B	.	.	2.814133	0.37057	20.4	0.82719912944435248	0.14339	0.90590	0.51892	D	AEFGBI	0.256679	0.37556	N	0.0156972215958806	0.42570	2.567372	-0.0814783398956545	0.36155	2.100578	1.81307151160965E-4	0.05844	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	2.819000	0.47749	3.158000	0.36555	0.487000	0.22268	0.995000	0.38783	0.964000	0.29435	0.017000	0.10941	0.0:0.0:1.0:0.0	9.276	0.36859	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1217.43	38	chr1	47068677	.	G	T	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.261;DP=447;ExcessHet=0;FS=2.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.311;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr1	47148753	47148753	C	T	exonic	CYP4A22	.	nonsynonymous SNV	CYP4A22:NM_001010969:exon12:c.C1516T:p.L506F	.	416	1010	94	2	0	98	0.0462701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0085	0.00878594	0.0102	0.0088	0.0061	0	0.0005	0.0061	0.0113	0.0416	0.0090426	1398	154602	rs61736430	0.0078	0.0078	0.0068	0.0088	0.0391	0.0077	0.0076	0.0380	0.0376	0.0094	0.0069	0.0086	2.519e-05	0.0006	0.0193	0.0058	0.0098	0.0391	0.0078	0.0078	0.0074	0.0082	0.0340	0.0074	0.0073	0.0298	0.0282	0.0088	0	0.0118	0.0075	0	0.0004	0.0034	0.0062	0.0076	0.0340	0.001	0.78490	D	0.003	0.76473	D	0.983	0.60381	D	0.917	0.65306	D	0.000250	0.46924	D	0.139605	1	0.08975	N	3.185	0.88900	M	-0.89	0.74793	T	-2.6	0.63090	D	0.27	0.36779	-0.6509	0.62675	T	0.344	0.70940	T	10	0.006461054	0.00146	T	.	.	.	0.272	0.58758	.	.	.	.	0.6044885089393155	0.60379	0.784704493341	0.65455	0.381250858307	0.22433	T	0.136	0.46876	T	-0.494442	0.00614	T	-0.45444	0.27208	T	0.0607866177424227	0.07291	T	0.787421	0.54241	T	0.42484096	0.62412	0.3200535	0.57963	0.42484096	0.62413	0.3200535	0.57962	-3.301	0.13750	T	.	.	0.218	0.44847	B	.;.;.	.;.;.	3.186690	0.43278	21.7	0.98604990409770055	0.43559	0.01778	0.05572	N	AEFBI	0.211497	0.33728	N	-0.312845371961962	0.28660	1.582626	-0.564413672780458	0.20423	1.100303	0.00114662903407456	0.08272	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.69	1.69	0.23290	-0.188000	0.09638	0.991000	0.23192	0.439000	0.21057	0.002000	0.15269	0.611000	0.25768	0.010000	0.09038	0.0:0.864:0.0:0.136	8.230	0.30750	253	0.90069	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.009511	0.014620	0.000000	0.008621	0.018293	0.026515	0.05	2160.43	141	chr1	47148753	.	C	T	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.72;DP=916;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.52;MQRankSum=-0.455;QD=10.19;ReadPosRankSum=1.42;SOR=0.757	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	9	0	1	0
chr1	47263056	47263056	C	G	exonic	STIL	.	nonsynonymous SNV	STIL:NM_001048166:exon15:c.G2676C:p.Q892H,STIL:NM_003035:exon15:c.G2673C:p.Q891H,STIL:NM_001282936:exon16:c.G2673C:p.Q891H,STIL:NM_001282937:exon16:c.G2622C:p.Q874H,STIL:NM_001282938:exon17:c.G2535C:p.Q845H,STIL:NM_001282939:exon17:c.G2481C:p.Q827H,STIL:NM_001377417:exon17:c.G2535C:p.Q845H	Microcephaly 7, primary, autosomal recessive, Autosomal recessive	0	1519	1	2	0	5	0.00164312	.	.	.	1490192	Microcephaly_7,_primary,_autosomal_recessive|not_provided	MONDO:MONDO:0012989,MedGen:C2675187,OMIM:612703,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00412096120283	.	0.000199681	3.298e-05	0	0.0003	0	0	1.5e-05	0	0	3.88e-05	6	154602	rs200995168	4.583e-05	4.583e-05	4.084e-05	5.088e-05	0.0017	3.661e-05	3.347e-05	0.0009	0.0007	5.974e-05	0.0002	0	0	0	0.0017	3.327e-05	0.0001	1.159e-05	6.566e-05	6.562e-05	6.424e-05	6.714e-05	0.0001	3.514e-05	2.614e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.82e-05	0.0009	0	0.561	0.07048	T	0.259	0.25438	T	0.0	0.02946	B	0.001	0.04355	B	0.428485	0.12778	N	0.754074	1	0.08975	N	0	0.06538	N	2.28	0.44065	T	-0.4	0.18877	N	0.062	0.11483	-1.0220	0.23063	T	0.052	0.22153	T	10	0.019976616	0.00453	T	0.004121	0.09869	T	0.029	0.06676	0.174	0.08014	0.219573609325	0.21563	0.24618558182055994	0.24532	0.0964167291934	0.10881	0.244788885117	0.03239	T	0.109477	0.42338	T	-0.497151	0.00593	T	-0.682599	0.06826	T	0.00677107604252951	0.00076	T	0.278472	0.08219	T	0.037095	0.04691	0.045252826	0.06049	0.037095	0.04691	0.045252826	0.06049	-3.628	0.18263	T	0.15110769742124938	0.17802	0.096	0.16010	B	.;.;.;.;.	.;.;.;.;.	0.359650	0.07324	3.937	0.48031815159587465	0.03975	0.39294	0.26181	N	ALL	0.114894	0.22613	N	-1.40635910037059	0.02582	0.114227	-1.34016573221322	0.03923	0.1839998	0.999999998813243	0.74766	0.696267	0.57585	0	0.637152	0.57089	0	0.779548	0.98927	0	0.572988	0.34948	1	.	.	5.51	2.51	0.29435	0.189000	0.16845	0.581000	0.19707	-1.168000	0.01403	0.002000	0.15269	0.080000	0.22369	0.114000	0.18915	0.1471:0.5312:0.3217:0.0	9.340	0.37238	664	0.61548	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	857.43	68	chr1	47263056	.	C	G	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=382;ExcessHet=0;FS=2.125;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.184;SOR=0.418	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	9	0	1	0
chr1	47417213	47417213	A	G	exonic	FOXE3	.	nonsynonymous SNV	FOXE3:NM_012186:exon1:c.A898G:p.S300G	Anterior segment dysgenesis 2, multiple subtypes, Autosomal recessive;Cataract 34, multiple types	11	1478	31	2	0	35	0.0117018	.	.	.	270847	not_specified|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Anterior_segment_dysgenesis|Congenital_primary_aphakia|Cardiovascular_phenotype	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|Human_Phenotype_Ontology:HP:0007696,Human_Phenotype_Ontology:HP:0007699,Human_Phenotype_Ontology:HP:0007700,Human_Phenotype_Ontology:HP:0008040,MONDO:MONDO:0019503,MedGen:C1862839,OMIM:PS107250,Orphanet:88632|MONDO:MONDO:0012456,MedGen:C1853230,OMIM:610256,Orphanet:83461|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.290	.	.	0.00159744	0.0056	0	0	0	.	0.0140	0	0.0046	0.0004463	69	154602	rs552420470	0.0031	0.0028	0.0031	0.0031	0.0075	0.0030	0.0030	0.0052	0.0044	0.0004	0.0010	0.0068	0	0.0162	0.0075	0.0027	0.0044	0.0023	0.0035	0.0035	0.0028	0.0042	0.0034	0.0032	0.0031	0.0030	0.0029	0.0009	0.0198	0.0009	0.0072	0	0.0174	0.0068	0.0034	0.0014	0.0031	0.792	0.03184	T	0.539	0.09795	T	0.0	0.02946	B	0.0	0.01387	B	0.295066	0.14698	N	0.476851	0.999999	0.08975	N	-0.55	0.02420	N	-3.35	0.94022	D	-0.04	0.07590	N	0.009	0.00081	-0.5843	0.65447	T	0.449	0.78413	T	10	0.002399385	0.00036	T	.	.	.	0.290	0.60924	.	.	0.278968121808	0.27521	0.25902939876241915	0.25816	.	.	0.85276901722	0.90032	D	0.047203	0.27653	T	-0.49657	0.00598	T	-0.485524	0.23862	T	0.00355428885476566	0.00038	T	0.349665	0.07767	T	0.0522095	0.09705	0.084667906	0.19493	0.06239897	0.13029	0.09056662	0.21243	-1.467	0.01698	T	.	.	0.063	0.01428	B	.	.	0.543012	0.09114	5.899	0.54533621611238681	0.05157	0.04776	0.10488	N	AEFDBHCI	0.022941	0.01212	N	-1.41013078079519	0.02549	0.1127034	-1.40882137805127	0.03163	0.1470107	0.99369782197003	0.33317	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.4	-2.55	0.05922	-0.911000	0.04159	0.151000	0.15292	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.3845:0.0:0.6155:0.0	11.549	0.49966	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006151	0.000000	0.000000	0.000000	0.000000	0.000000	0.009709	0.025641	0.05	306.43	30	chr1	47417213	.	A	G	306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=298;ExcessHet=0;FS=2.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.613;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr1	48222849	48222849	T	C	exonic	SLC5A9	.	nonsynonymous SNV	SLC5A9:NM_001011547:exon1:c.T113C:p.I38T,SLC5A9:NM_001135181:exon1:c.T113C:p.I38T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.860	0.138154770501	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262781512	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.055	0.52060	T	0.981	0.59675	D	0.69	0.53781	P	0.000000	0.84330	D	0.052195	1	0.81001	D	3.08	0.87267	M	-2.42	0.88997	D	-4.24	0.76015	D	0.837	0.83269	0.708	0.93281	D	0.784	0.92656	D	10	0.96694136	0.96196	D	0.138155	0.82065	D	0.860	0.95728	0.797	0.91729	0.372993862945	0.36913	0.6035771831916372	0.60288	0.743471328655	0.63393	0.618409514427	0.55504	T	0.035255	0.23648	T	0.354249	0.86805	D	0.286564	0.87475	D	0.988575994968414	0.78889	D	0.845515	0.54193	T	0.35953644	0.57800	0.3097623	0.56989	0.35953644	0.57801	0.3097623	0.56988	-11.722	0.83552	D	.	.	0.290	0.54918	B	.;.;.	.;.;.	4.146697	0.62175	24.4	0.99478474922354443	0.66741	0.98176	0.80261	D	AEFGBHCI	0.891590	0.82770	D	0.515722283181784	0.68018	5.159916	0.437747953751464	0.63934	4.637425	1.0	0.98316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	7.479000	0.80115	7.698000	0.66136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:0.0:1.0	14.297	0.65878	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1751.43	37	chr1	48222849	.	T	C	1751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.309;DP=453;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.768;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	9	0	1	0
chr1	50418880	50418880	C	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.G1414A:p.A472T	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.119220496175	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	5.82e-05	9	154602	rs555999952	5.306e-05	5.883e-05	5.975e-05	4.622e-05	0.0029	4.301e-05	3.953e-05	0.0018	0.0014	3.661e-05	0.0002	4.433e-05	0	0	0.0029	3.75e-05	0.0002	1.365e-05	4.597e-05	4.594e-05	6.425e-05	2.686e-05	0.0001	2.108e-05	1.526e-05	4.767e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.024	0.47745	D	0.023	0.57104	D	0.999	0.77913	D	0.978	0.74104	D	0.000004	0.62929	D	0.000000	0.823111	0.34805	D	0.345	0.11182	N	1.26	0.36330	T	-0.54	0.16598	N	0.459	0.49783	-0.8089	0.54617	T	0.136	0.45184	T	10	0.19503546	0.35339	T	0.11922	0.79947	D	0.147	0.38986	.	.	0.151104730317	0.14643	0.44822042843175486	0.44740	.	.	0.897102177143	0.96112	D	0.022559	0.17371	T	-0.306007	0.08104	T	-0.392621	0.34246	T	0.151385655917633	0.17213	T	0.634537	0.24876	T	0.18168136	0.39350	0.3060656	0.56632	0.18168136	0.39350	0.3060656	0.56631	-6.286	0.48611	T	.	.	0.285	0.51721	B	.;.	.;.	3.171843	0.43022	21.6	0.99389333683743553	0.62247	0.98193	0.80412	D	AEFDBHCIJ	0.442330	0.50010	N	0.241462006616094	0.53219	3.491731	0.163330534474579	0.47853	3.009357	0.999892364472548	0.45129	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.93	2.93	0.33092	3.324000	0.51734	6.676000	0.56295	0.460000	0.21577	0.754000	0.29177	1.000000	0.68203	0.476000	0.28476	0.0:1.0:0.0:0.0	13.702	0.62095	560	0.71333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002564	0.000000	0.005450	0.000000	0.050000	0.000000	0.000000	0.000000	0.05	745.43	57	chr1	50418880	.	C	T	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.067;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.351;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	9	0	1	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4519.12	9	chr1	50419106	.	G	*	4519.12	.	AC=4;AF=0.2;AN=20;DP=185;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=4;MLEAF=0.2;MQ=59.68;QD=26.27;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,6:8:45:0|1:50419101_CCGGCGG_C:220,0,45:50419101	6	0	4	0
chr1	50419359	50419359	C	G	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.G935C:p.R312P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0994541454182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.384e-06	1.368e-06	1.378e-06	1.391e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.996	0.68779	D	0.839	0.60107	P	0.002469	0.36499	N	0.000000	0.999375	0.46831	D	1.355	0.33814	L	1.6	0.28604	T	-2.81	0.59389	D	0.434	0.47301	-1.0555	0.12908	T	0.101	0.37341	T	10	0.37453818	0.53730	T	0.099454	0.77111	D	0.132	0.35948	0.375	0.38830	0.297375071883	0.29337	0.5274210766178218	0.52666	.	.	0.90724414587	0.97202	D	0.148845	0.48758	T	-0.0939158	0.37428	T	-0.37268	0.36576	T	0.970004320144653	0.68793	D	0.69773	0.30785	T	0.5835239	0.71800	0.70281345	0.82485	0.5835239	0.71802	0.70281345	0.82486	-9.284	0.69506	D	.	.	0.204	0.45726	B	.;.	.;.	4.839655	0.78995	27.0	0.99718875397191109	0.81914	0.97800	0.77226	D	AEFDBHCI	0.884754	0.81471	D	0.449888103460817	0.64196	4.668886	0.424793800139835	0.63113	4.538803	0.999998741782829	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.8	3.8	0.42887	3.469000	0.52857	4.655000	0.44213	0.524000	0.24156	0.986000	0.36153	1.000000	0.68203	0.978000	0.57271	0.0:0.8934:0.0:0.1065	9.463	0.37962	560	0.71333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1071.43	34	chr1	50419359	.	C	G	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.026;DP=423;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.456;SOR=0.782	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1316	9	0	1	0
chr1	51878485	51878485	G	A	exonic	NRDC	.	nonsynonymous SNV	NRDC:NM_001101662:exon1:c.C131T:p.P44L,NRDC:NM_002525:exon1:c.C131T:p.P44L	.	.	.	.	.	.	.	.	.	.	.	719006	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0056	0.00499201	0.0016	0.0175	0.0008	0	0	6.098e-05	0	0	0.0014877	230	154602	rs138608728	0.0005	0.0005	0.0006	0.0004	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0011	0	0	0	0.0002	1.529e-05	0.0009	0	0.0048	0.0048	0.0050	0.0045	0.0171	0.0045	0.0044	0.0160	0.0156	0.0171	0	0.0007	0	0	0	0	5.879e-05	0.0024	0	0.234	0.18691	T	0.358	0.26145	T	0.19	0.29379	B	0.043	0.24256	B	0.021292	0.26863	N	0.266470	0.999996	0.22029	N	0.55	0.14455	N	1.49	0.32958	T	-0.81	0.23808	N	0.083	0.15046	-1.0343	0.19078	T	0.021	0.08778	T	10	0.0023062527	0.00034	T	.	.	.	0.019	0.03383	.	.	0.043077524339	0.03247	0.2758344124545456	0.27496	0.0990729327235	0.11194	0.389662861824	0.23622	T	0.110408	0.42507	T	-0.601426	0.00143	T	-0.621747	0.11049	T	0.01604822923035	0.00385	T	0.70273	0.31245	T	0.05076628	0.09221	0.08082452	0.18316	0.05076628	0.09221	0.08082452	0.18315	-3.346	0.14338	T	.	.	0.122	0.36194	B	.;.;.	.;.;.	1.678173	0.21391	15.18	0.99762690563851286	0.85172	0.09659	0.15365	N	ALL	0.080467	0.16270	N	-0.70468373666719	0.15889	0.8048195	-0.650632956075202	0.18200	0.9712486	0.999999999171088	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.17	3.29	0.36801	0.505000	0.22352	1.659000	0.27889	0.676000	0.76740	0.007000	0.17678	0.066000	0.22130	0.741000	0.35472	0.0923:0.0:0.7245:0.1832	6.254	0.20071	328	0.86572	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1299.43	33	chr1	51878485	.	G	A	1299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=420;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.512;SOR=0.868	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1134	9	0	1	0
chr1	52033427	52033427	C	T	exonic	KTI12	.	nonsynonymous SNV	KTI12:NM_138417:exon1:c.G335A:p.G112D	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00784579660146	0.0013	0.000599042	0.0008	0.0004	8.728e-05	0	0	0.0014	0	0	0.000718	111	154602	rs144575218	0.0019	0.0019	0.0020	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	0.0003	0.0002	0.0020	0	7.588e-05	0.0005	0.0023	0.0021	3.491e-05	0.0012	0.0012	0.0013	0.0010	0.0021	0.0010	0.0010	0.0018	0.0017	0.0004	0	0.0008	0.0014	0	9.407e-05	0	0.0021	0	0	0.364	0.11770	T	0.575	0.08654	T	0.001	0.07471	B	0.003	0.08700	B	0.704001	0.06219	N	1.244690	0.999953	0.19072	N	-0.19	0.04217	N	0.98	0.42122	T	0.15	0.05310	N	0.139	0.13769	-1.0244	0.22279	T	0.059	0.24686	T	10	0.0054050684	0.00119	T	0.007846	0.20824	T	0.094	0.27141	.	.	0.244539031024	0.24083	0.26972453496800286	0.26885	0.724652031395	0.62407	0.504876077175	0.39507	T	7.04E-4	0.00319	T	-0.579834	0.00193	T	-0.624682	0.10821	T	0.0051122949867276	0.00055	T	0.456654	0.13107	T	0.053273782	0.10058	0.0651081	0.13147	0.053273782	0.10058	0.0651081	0.13146	-4.677	0.33125	T	.	.	0.092	0.13409	B	.	.	1.014391	0.13936	10.50	0.92251775185873508	0.21632	0.11547	0.16706	N	ALL	0.074654	0.14969	N	-1.08647870511419	0.06891	0.3185622	-1.10579114106223	0.07589	0.3697296	0.999999999994987	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.83	-0.434	0.11670	0.982000	0.29137	0.133000	0.15072	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.0:0.5495:0.1432:0.3073	5.533	0.16283	448	0.79501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1236.43	35	chr1	52033427	.	C	T	1236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.544;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.633;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	0	1	0
chr1	52238481	52238481	G	A	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.G1064A:p.C355Y,ZFYVE9:NM_007324:exon4:c.G1064A:p.C355Y	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00745861454519	0.0015	0.00119808	0.0017	0.0005	0.0009	0	0.0041	0.0023	0.0011	0.0009	0.00163	252	154602	rs150425258	0.0015	0.0015	0.0014	0.0016	0.0111	0.0015	0.0014	0.0089	0.0081	0.0006	0.0011	0.0161	0	0.0021	0.0111	0.0012	0.0025	0.0011	0.0018	0.0018	0.0018	0.0018	0.0022	0.0016	0.0015	0.0016	0.0014	0.0003	0.0077	0.0022	0.0150	0	0.0031	0.0102	0.0018	0.0033	0.0008	0.053	0.41096	T	0.394	0.16134	T	0.148	0.30574	B	0.049	0.31143	B	0.848682	0.07043	N	1.077970	1	0.08975	N	0.895	0.22405	L	0.8	0.48769	T	-1.74	0.41239	N	0.287	0.40264	-1.0194	0.23910	T	0.062	0.25815	T	10	0.0066120327	0.00150	T	0.007459	0.19792	T	0.036	0.09122	.	.	0.128874641272	0.12493	0.19580028617862139	0.19497	0.191457487141	0.21472	0.302525669336	0.10778	T	0.009153	0.08348	T	-0.452483	0.01092	T	-0.43	0.29935	T	0.010937583888807	0.00157	T	0.529847	0.17555	T	0.06562438	0.14042	0.09003683	0.21091	0.06562438	0.14041	0.09003683	0.21090	-3.876	0.21943	T	.	.	0.070	0.17573	B	.;.;.	.;.;.	1.239124	0.16346	12.48	0.67762937216443309	0.08452	0.26054	0.22881	N	AEFDGBCI	0.072578	0.14489	N	-0.574075614779124	0.19735	1.035197	-0.577896067599742	0.20069	1.079664	0.999999986388764	0.74766	0.730579	0.87903	0	0.588066	0.40923	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	4.88	0.501	0.16130	1.142000	0.31152	1.584000	0.27491	0.676000	0.76740	0.899000	0.31403	0.356000	0.24496	0.581000	0.30918	0.2596:0.2835:0.4569:0.0	5.226	0.14714	335	0.86220	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013092	0.005051	0.016304	0.011696	0.000000	0.025862	0.009146	0.003788	0.05	1649.43	34	chr1	52238481	.	G	A	1649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=-0.022;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	9	0	1	0
chr1	52238678	52238678	A	G	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.A1261G:p.K421E,ZFYVE9:NM_007324:exon4:c.A1261G:p.K421E	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0043	0.00359425	0.0009	0.0101	0.0005	0	0	4.504e-05	0.0011	0	0.000925	143	154602	rs61753464	0.0003	0.0003	0.0004	0.0003	0.0108	0.0003	0.0003	0.0099	0.0096	0.0108	0.0006	0	0	0	0.0005	2.068e-05	0.0008	1.159e-05	0.0032	0.0033	0.0034	0.0031	0.0114	0.0030	0.0029	0.0105	0.0102	0.0114	0	0.0009	0	0	0	0	5.88e-05	0.0019	0	0.024	0.48186	D	0.645	0.06859	T	0.094	0.28062	B	0.016	0.22909	B	0.006799	0.31798	N	0.206028	0.999567	0.20970	N	0.695	0.17993	N	1.15	0.38236	T	-0.68	0.21215	N	0.136	0.25377	-1.0334	0.19363	T	0.045	0.19234	T	10	0.0032640696	0.00056	T	.	.	.	0.038	0.09825	.	.	0.0675242888579	0.06100	0.06326488973133346	0.06265	0.147862766513	0.16680	0.364331007004	0.20015	T	0.005978	0.05421	T	-0.573682	0.00210	T	-0.587436	0.13888	T	0.00919048132809743	0.00116	T	0.59994	0.28021	T	0.12990418	0.30326	0.14442493	0.34289	0.12990418	0.30326	0.14442493	0.34288	-2.643	0.06837	T	.	.	0.076	0.17869	B	.;.;.	.;.;.	1.767118	0.22475	15.63	0.99480078487430745	0.66850	0.54697	0.29679	D	ALL	0.098549	0.19856	N	-0.44044394568253	0.24065	1.296813	-0.277953334614871	0.28826	1.610245	0.999999999996558	0.74766	0.706298	0.61202	0	0.624146	0.53433	0	0.709663	0.75317	0	0.616919	0.45865	0	.	.	4.98	3.82	0.43153	2.414000	0.44281	3.378000	0.37982	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.999000	0.91618	0.8478:0.0:0.1522:0.0	9.022	0.35368	335	0.86220	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2253.43	34	chr1	52238678	.	A	G	2253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.809;DP=463;ExcessHet=0;FS=3.78;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.504;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	9	0	1	0
chr1	52354636	52354636	T	C	exonic	CC2D1B	.	nonsynonymous SNV	CC2D1B:NM_001330585:exon23:c.A2402G:p.N801S,CC2D1B:NM_032449:exon23:c.A2420G:p.N807S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00133282530271	.	.	5.766e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs766423165	1.984e-05	1.984e-05	9.528e-06	3.025e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	0	0.0003	6.57e-06	6.567e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.294	0.17643	T	0.618	0.07493	T	0.005	0.15093	B	0.004	0.14300	B	0.033894	0.24840	N	0.439021	0.995732	0.24536	N	-0.805	0.01590	N	1.8	0.25344	T	-0.16	0.10656	N	0.126	0.11912	-0.9901	0.32576	T	0.023	0.09832	T	10	0.04651904	0.03854	T	0.001333	0.01885	T	0.027	0.05988	0.21	0.12781	0.42324137094	0.41940	0.13179357836281844	0.13104	0.0254209843735	0.02595	0.390446722507	0.23733	T	0.008111	0.07462	T	-0.469757	0.00853	T	-0.596394	0.13117	T	0.0608958362273124	0.07308	T	0.826617	0.52582	T	0.03916748	0.05356	0.04122049	0.04637	0.03916748	0.05356	0.04122049	0.04637	-4.901	0.35746	T	.	.	0.067	0.02399	B	.;.	.;.	3.287470	0.45070	22.1	0.92724477676935968	0.22223	0.87802	0.47467	D	AEFDGBCI	0.398346	0.47406	N	-0.514866503826403	0.21599	1.147436	-0.300137274585664	0.28095	1.563784	0.532689977169904	0.21188	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	1.95	0.25130	3.047000	0.49544	2.006000	0.30143	0.665000	0.62972	0.985000	0.35982	0.994000	0.32194	0.998000	0.85391	0.0:0.0833:0.5013:0.4154	8.264	0.30962	353	0.85335	C2 domain|C2 domain|Freud, C2 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1890.43	38	chr1	52354636	.	T	C	1890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.624;DP=520;ExcessHet=0;FS=1.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.888;SOR=0.523	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	9	0	1	0
chr1	52361541	52361546	TCCTCC	-	exonic	CC2D1B	.	nonframeshift deletion	CC2D1B:NM_001330585:exon4:c.285_290del:p.E96_E97del,CC2D1B:NM_032449:exon4:c.285_290del:p.E96_E97del	.	395	1107	16	4	0	24	0.0107239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0777	0.00698882	0.0068	0.0008	0.0058	0	0.0011	0.0074	0.0094	0.0146	0.0047641	124	26028	rs530661837	0.0077	0.0077	0.0075	0.0079	0.0137	0.0076	0.0075	0.0124	0.0121	0.0010	0.0064	0.0041	0	0.0011	0.0137	0.0082	0.0078	0.0130	0.0058	0.0058	0.0064	0.0051	0.0128	0.0055	0.0053	0.0102	0.0093	0.0015	0	0.0071	0.0064	0	0.0010	0	0.0089	0.0057	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1530.39	35	chr1	52361540	.	TTCCTCC	T	1530.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.838;DP=418;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=1.17;SOR=0.956	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr1	52842935	52842935	G	A	exonic	ZYG11A	.	nonsynonymous SNV	ZYG11A:NM_001004339:exon1:c.G52A:p.D18N	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00910013186126	.	.	0.0002	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs773974324	2.685e-05	2.736e-05	2.005e-05	3.384e-05	0.0004	1.981e-05	1.73e-05	0.0003	0.0003	0	0	0	0	0	0	9.345e-07	3.501e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.04315	T	0.937	0.02717	T	0.001	0.07471	B	0.001	0.04355	B	0.978154	0.07822	U	1.017410	1	0.22293	N	2.015	0.55033	M	0.89	0.45636	T	0.05	0.06369	N	0.131	0.12627	-1.0199	0.23747	T	0.040	0.17277	T	10	0.032410026	0.01392	T	0.009	0.23941	T	0.034	0.08419	0.316	0.29258	0.0297737177859	0.01360	0.20247039688920043	0.20164	.	.	0.512692689896	0.40599	T	6.37E-4	0.00271	T	-0.576791	0.00202	T	-0.703263	0.05649	T	0.0558023149029575	0.06491	T	0.50475	0.15921	T	0.056431897	0.11102	0.039195206	0.03959	0.056431897	0.11102	0.039195206	0.03959	-3.972	0.23383	T	.	.	0.084	0.09868	B	.	.	2.592653	0.33639	19.40	0.97401481211286545	0.33775	0.10028	0.15645	N	ALL	0.032713	0.03746	N	-1.02886156652168	0.08008	0.3740196	-0.990210008759024	0.10005	0.5011651	0.999999999770937	0.74766	0.652421	0.48094	0	0.218748	0.04544	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.17	0.883	0.18312	0.782000	0.26449	3.554000	0.39061	0.526000	0.24426	0.976000	0.34826	1.000000	0.68203	0.642000	0.32476	0.1222:0.2057:0.4607:0.2114	1.849	0.02974	145	0.94217	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1215.43	36	chr1	52842935	.	G	A	1215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.814;DP=431;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.467;SOR=0.483	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1199	9	0	1	0
chr1	53114758	53114758	C	T	exonic	SLC1A7	.	nonsynonymous SNV	SLC1A7:NM_001287595:exon3:c.G431A:p.R144Q,SLC1A7:NM_001287596:exon3:c.G431A:p.R144Q,SLC1A7:NM_006671:exon3:c.G431A:p.R144Q	.	423	1097	2	0	0	2	0.000910747	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.559	0.0687043301598	.	.	0.0002	0	0.0011	0	0	4.625e-05	0.0012	0.0004	0.0001488	23	154602	rs775909830	6.571e-05	6.704e-05	5.721e-05	7.431e-05	0.0005	5.499e-05	5.11e-05	0.0004	0.0003	0	0.0005	0	0	1.873e-05	0.0005	2.519e-05	9.947e-05	0.0004	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.001	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.635	0.77114	M	0.26	0.59314	T	-3.48	0.68999	D	0.935	0.94077	0.013	0.82525	D	0.472	0.79721	T	9	0.58627707	0.76437	D	0.068704	0.70524	D	0.559	0.81888	0.813	0.92857	0.770764899047	0.76866	0.9284019268100916	0.92818	0.455546103527	0.45228	0.673610806465	0.63353	T	0.309729	0.68173	T	0.0469464	0.57948	T	0.205504	0.83428	D	0.347977881170894	0.26939	T	0.996	0.99942	D	0.68147254	0.77048	0.61310595	0.77487	0.68147254	0.77050	0.61310595	0.77488	-12.815	0.88586	D	.	.	0.799	0.77246	P	.;.;.	.;.;.	6.643305	0.95528	35	0.99944487174125307	0.99868	0.98582	0.84349	D	AEFDBI	0.957574	0.97684	D	0.894502907137651	0.91486	10.90894	0.831718130841797	0.91905	11.13018	0.999999999999996	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.42	5.42	0.78666	7.534000	0.80907	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:1.0:0.0:0.0	19.235	0.93840	600	0.68026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1196.43	33	chr1	53114758	.	C	T	1196.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=390;ExcessHet=0;FS=5.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=0.395;SOR=1.422	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr1	53828075	53828075	C	T	exonic	NDC1	.	nonsynonymous SNV	NDC1:NM_018087:exon4:c.G379A:p.V127M	.	434	1086	2	0	0	2	0.000919963	.	.	.	3558881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	0.00874370951065	.	.	7.415e-05	0	0.0003	0	0	7.495e-05	0.0011	0	7.76e-05	12	154602	rs769789336	4.241e-05	4.241e-05	4.356e-05	4.125e-05	0.0003	3.376e-05	3.065e-05	0.0001	9.193e-05	0	0.0002	0	0	0	0.0003	4.227e-05	4.967e-05	0	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0003	2.108e-05	1.526e-05	8.874e-05	5.384e-05	0	0	0.0003	0	0	0	0.0068	1.47e-05	0	0	0.19	0.21144	T	0.036	0.52060	D	0.003	0.11197	B	0.006	0.12133	B	0.170034	0.17402	N	0.602886	1	0.81001	D	0.11	0.08516	N	0.92	0.44461	T	-0.51	0.15986	N	0.194	0.21319	-1.0662	0.10269	T	0.043	0.18576	T	10	0.06770873	0.09472	T	0.008744	0.23074	T	0.054	0.15330	0.531	0.63855	0.171220215726	0.16700	0.405029520553448	0.40418	0.124255005918	0.13989	0.280599325895	0.07575	T	0.015962	0.13288	T	-0.478441	0.00755	T	-0.64031	0.09647	T	0.0331872391323925	0.02502	T	0.829317	0.49436	T	0.022456173	0.00909	0.037915815	0.03546	0.022456173	0.00909	0.037915815	0.03546	-5.314	0.40081	T	.	.	0.082	0.08851	B	.	.	1.612624	0.20604	14.83	0.97092229125465568	0.32328	0.41820	0.26742	N	AEFBI	0.041028	0.06184	N	-0.770152354202215	0.14093	0.6992271	-0.679576471390971	0.17471	0.929189	0.0070551910128909	0.11374	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	-3.11	0.04975	-0.239000	0.08983	1.109000	0.24140	0.549000	0.26987	0.859000	0.30595	1.000000	0.68203	0.998000	0.85391	0.1748:0.1315:0.5157:0.178	3.848	0.08453	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	735.43	80	chr1	53828075	.	C	T	735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=392;ExcessHet=0;FS=3.002;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-0.359;SOR=0.899	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	9	0	1	0
chr1	54144712	54144712	C	T	exonic	CDCP2	.	nonsynonymous SNV	CDCP2:NM_001353655:exon3:c.G181A:p.V61M,CDCP2:NM_201546:exon3:c.G181A:p.V61M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0392645788419	7.7e-05	.	1.653e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs368144780	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.987e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	2.987e-05	0	0	0	0	0	6.295e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.325	0.33218	L	2.2	0.18570	T	-1.38	0.34198	N	0.786	0.78262	-1.0430	0.16413	T	0.138	0.45470	T	10	0.54090184	0.63713	D	0.039265	0.58710	D	0.252	0.56159	.	.	0.460526725402	0.45678	0.5535895674829301	0.55284	0.339247229736	0.35880	0.692285895348	0.66034	T	0.01844	0.14866	T	0.000323352	0.51698	T	-0.221826	0.52562	T	0.971964299678802	0.69517	D	0.90111	0.65631	D	0.2584202	0.48891	0.28952897	0.54972	0.2584202	0.48891	0.28952897	0.54972	-6.277	0.48540	T	.	.	0.231	0.46401	B	.;.	.;.	4.957082	0.81928	27.7	0.9989252979314136	0.96589	0.98975	0.89414	D	AEFDBI	0.934217	0.92726	D	0.772120914339094	0.84336	8.259346	0.767440978698855	0.87453	9.227541	0.999999999921255	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	7.565000	0.81337	7.584000	0.61047	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.418	0.94700	837	0.37933	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2431.43	39	chr1	54144712	.	C	T	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.699;DP=573;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=2.68;SOR=0.669	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr1	54210066	54210066	T	C	exonic	MRPL37	.	nonsynonymous SNV	MRPL37:NM_001330602:exon4:c.T767C:p.F256S,MRPL37:NM_016491:exon4:c.T767C:p.F256S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0335022744679	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs773879342	1.3e-05	1.368e-05	1.089e-05	1.513e-05	2.698e-06	8.31e-06	6.7e-06	7.2e-07	2e-07	0	0	0	0	0.0003	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.002	0.79402	D	0.999	0.77913	D	0.97	0.72226	D	0.000021	0.62929	D	0.188597	1	0.81001	D	2.89	0.83701	M	2.15	0.19311	T	-4.78	0.80851	D	0.917	0.93252	-0.3742	0.72833	T	0.368	0.72803	T	10	0.82483566	0.81669	D	0.033502	0.55023	D	0.267	0.58126	0.73	0.86373	0.619976913611	0.61689	0.9353813624967855	0.93518	1.25690945348	0.81934	0.488486647606	0.37228	T	0.152742	0.67962	T	0.0884814	0.63018	D	-0.110679	0.62556	T	0.944587767124176	0.62090	D	0.913209	0.69058	D	0.8699025	0.88853	0.8484292	0.91399	0.8699025	0.88855	0.8484292	0.91399	-3.383	0.14829	T	.	.	0.533	0.69803	A	.;.;.	.;.;.	4.547758	0.71547	25.7	0.99876800846766478	0.95328	0.99068	0.90757	D	AEFBI	0.927426	0.91006	D	0.484303158431185	0.66174	4.916035	0.552483796250419	0.71569	5.675043	0.99999999835719	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.402000	0.79208	7.823000	0.69822	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:0.0:1.0	15.928	0.79419	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2294.43	35	chr1	54210066	.	T	C	2294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.857;DP=524;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.636;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	9	0	1	0
chr1	54584704	54584704	G	A	exonic	ACOT11	.	nonsynonymous SNV	ACOT11:NM_015547:exon2:c.G83A:p.R28H,ACOT11:NM_147161:exon2:c.G83A:p.R28H	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0130511085443	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328162363	6.841e-06	6.84e-06	5.445e-06	8.25e-06	0.0002	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.093e-06	0	0	4.6e-05	4.597e-05	7.709e-05	1.345e-05	0.0002	2.109e-05	1.527e-05	5.289e-05	2.836e-05	2.413e-05	0	0.0002	0	0	0	0	2.94e-05	0.0005	0	0.207	0.29158	T	0.244	0.33109	T	0.001	0.12183	B	0.002	0.06944	B	0.561389	0.05426	N	1.226830	1	0.08975	N	0	0.06538	N	2.84	0.11515	T	0.25	0.04456	N	0.078	0.05287	-0.9475	0.41397	T	0.015	0.06138	T	10	0.051306397	0.04993	T	0.013051	0.32145	T	0.012	0.01476	.	.	0.152612264143	0.14878	0.21899189252379628	0.21815	0.241955391217	0.26711	0.247432470322	0.03502	T	0.005409	0.04862	T	-0.41348	0.01885	T	-0.831712	0.01232	T	0.056903434506005	0.06672	T	0.663534	0.27241	T	0.021748936	0.00794	0.02335845	0.00350	0.021748936	0.00794	0.02335845	0.00350	-4.451	0.31318	T	.	.	0.086	0.14660	B	.;.	.;.	0.973711	0.13511	10.03	0.98097737157307097	0.38245	0.06795	0.12819	N	AEFDBHCI	0.052598	0.09404	N	-1.23197089951746	0.04543	0.2052436	-1.21329545400455	0.05696	0.2721104	0.998404590219355	0.36906	0.632932	0.41330	0	0.547309	0.14657	0	0.601832	0.32385	0	0.655142	0.61905	0	.	.	5.27	0.138	0.14091	-0.039000	0.12076	0.438000	0.18395	0.667000	0.69007	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.3762:0.0:0.6238:0.0	8.584	0.32807	717	0.55835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2460.43	188	chr1	54584704	.	G	A	2460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=504;ExcessHet=0;FS=5.126;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.464;SOR=0.709	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1351	9	0	1	0
chr1	54630829	54630829	C	G	exonic	ACOT11	.	nonsynonymous SNV	ACOT11:NM_015547:exon16:c.C1725G:p.D575E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00698083623215	0.0004	0.000199681	0.0001	0.0015	0	0	0	0	0	0	0.00011	17	154602	rs113917018	3.894e-05	4.135e-05	3.2e-05	4.477e-05	0.0010	2.633e-05	2.212e-05	0.0006	0.0005	0.0010	0	0	0	0	0	0	0.0002	0	0.0002	0.0002	0.0001	0.0003	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	6.533e-05	0	0	0	0	0	0.0005	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.009293	0.30429	U	0.290769	1	0.08975	N	0	0.06538	N	-1.09	0.77206	T	-0.23	0.10656	N	0.108	0.09349	-0.8503	0.51948	T	0.196	0.55042	T	6	0.025497645	0.00742	T	0.006981	0.18485	T	0.107	0.30369	0.479	0.55823	0.721118004057	0.71866	0.1928181273524886	0.19199	0.181768185233	0.20427	.	.	.	0.005984	0.05421	T	-0.164568	0.26059	T	-0.474167	0.25068	T	0.0242155284918803	0.01172	T	0.205379	0.02414	T	0.35200796	0.57222	0.18315561	0.41287	0.35200796	0.57223	0.18315561	0.41286	-2.981	0.09978	T	.	.	0.153	0.33868	B	.	.	0.294632	0.06705	3.214	0.34733163396557798	0.02141	0.00294	0.01573	N	AEFBI	0.043379	0.06850	N	-0.877519997847494	0.11378	0.5488046	-1.05360519005556	0.08632	0.4253644	1.64607651243059E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	.	.	.	0.055000	0.14112	-2.813000	0.03335	0.065000	0.17553	0.141000	0.23520	0.000000	0.08366	0.155000	0.20479	.	.	.	808	0.43318	START domain|START domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001591	0.000000	0.001366	0.007143	0.000000	0.000000	0.000000	0.000000	0.05	936.43	35	chr1	54630829	.	C	G	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=394;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.624;SOR=0.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	9	0	1	0
chr1	54700342	54700342	C	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon16:c.C1540T:p.R514C,MROH7:NM_001039464:exon18:c.C2986T:p.R996C	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0230320514409	0.0016	0.00179712	0.0024	0.0005	0.0058	0.0001	0.0005	0.0018	0.0058	0.0057	0.0020569	318	154602	rs139827199	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0045	0.0044	0.0004	0.0027	0.0009	2.519e-05	0.0004	0.0038	0.0016	0.0015	0.0049	0.0012	0.0012	0.0014	0.0011	0.0041	0.0011	0.0010	0.0027	0.0023	0.0004	0	0.0010	0.0003	0.0002	0.0003	0.0034	0.0018	0.0024	0.0041	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.917	0.65306	D	0.303897	0.14550	N	0.610623	0.997959	0.49512	D	2.16	0.60381	M	4.72	0.02121	T	-3.93	0.73267	D	0.683	0.69913	-1.0772	0.07901	T	0.085	0.33014	T	10	0.013888657	0.00293	T	0.023032	0.45967	T	0.160	0.41473	.	.	0.186928172975	0.18263	0.21068615473690672	0.20984	0.473772204967	0.46581	0.597358465195	0.52532	T	0.132132	0.46203	T	-0.38034	0.03101	T	-0.318018	0.42791	T	0.0268653159448051	0.01525	T	0.876412	0.58869	D	0.20939183	0.43205	0.21668613	0.46305	0.20939183	0.43205	0.21668613	0.46304	-6.247	0.48301	T	.	.	0.332	0.55390	B	.;.	.;.	4.189719	0.63134	24.5	0.9992411981508893	0.98980	0.45925	0.27646	N	AEFBI	0.116902	0.22923	N	0.392515429573369	0.61017	4.297238	0.309431187916425	0.56094	3.77228	8.28159807578539E-5	0.04703	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.5	3.47	0.38831	1.035000	0.29824	0.394000	0.17923	0.599000	0.40250	0.954000	0.33273	0.065000	0.22112	0.993000	0.69303	0.3821:0.6179:0.0:0.0	10.283	0.42730	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.007576	0.05	1139.43	36	chr1	54700342	.	C	T	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.389;DP=413;ExcessHet=0;FS=0.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.672;SOR=0.879	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr1	54787794	54787794	T	A	exonic	TTC22	.	nonsynonymous SNV	TTC22:NM_001114108:exon3:c.A656T:p.E219V,TTC22:NM_017904:exon3:c.A656T:p.E219V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0160732917993	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1005603016	1.37e-06	1.368e-06	0	2.754e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.27426	T	0.22	0.26226	T	0.089	0.27697	B	0.064	0.31370	B	0.009049	0.30540	N	0.352193	0.90549	0.36276	D	1.265	0.31966	L	0.79	0.49358	T	-1.03	0.28906	N	0.449	0.50868	-0.9724	0.36691	T	0.091	0.34847	T	10	0.17210057	0.31964	T	0.016073	0.37142	T	0.102	0.29158	0.233	0.16155	0.471211772063	0.46748	0.44383717701725617	0.44301	0.359318294384	0.37625	0.394331395626	0.24278	T	0.007612	0.07006	T	-0.089681	0.38129	T	-0.366597	0.37285	T	0.434821963310242	0.30239	T	0.676632	0.28519	T	0.17932193	0.38998	0.10074232	0.24096	0.17932193	0.38997	0.10074232	0.24095	-5.806	0.44626	T	.	.	0.178	0.40984	B	.;.	.;.	2.756729	0.36146	20.2	0.98631195948692663	0.43920	0.74181	0.36285	D	AEFDBI	0.239854	0.36174	N	-0.207970728678835	0.32808	1.854285	-0.0541330228765595	0.37312	2.182948	0.998520428591714	0.37129	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	2.029000	0.40718	3.336000	0.37667	0.561000	0.28422	0.958000	0.33488	0.999000	0.35428	0.992000	0.67800	0.0:0.0:0.0:1.0	11.427	0.49261	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	647.43	34	chr1	54787794	.	T	A	647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.324;DP=398;ExcessHet=0;FS=2.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.077;SOR=0.771	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr1	54800802	54800802	G	C	exonic	TTC22	.	nonsynonymous SNV	TTC22:NM_001114108:exon1:c.C362G:p.A121G,TTC22:NM_017904:exon1:c.C362G:p.A121G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0105197771463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.15509	T	0.387	0.16328	T	0.0	0.07471	B	0.001	0.08700	B	0.028015	0.25668	N	0.392743	0.745255	0.29694	N	1.445	0.36358	L	1.54	0.30133	T	-1.36	0.33798	N	0.122	0.11340	-1.0616	0.11361	T	0.055	0.23148	T	10	0.068627924	0.09732	T	0.01052	0.27152	T	0.045	0.12272	0.206	0.12216	0.188950314367	0.18478	0.26887549560920204	0.26800	0.374542433298	0.38912	0.699378669262	0.67054	T	0.012007	0.10625	T	-0.259274	0.12984	T	-0.610206	0.11967	T	0.205375164747238	0.20709	T	0.652235	0.26282	T	0.12585789	0.29494	0.11818205	0.28530	0.12585789	0.29494	0.11818205	0.28529	-5.872	0.45195	T	.	.	0.100	0.18289	B	.;.	.;.	3.402364	0.47155	22.4	0.98875480559348228	0.47719	0.53425	0.29369	D	AEFDBCI	0.238818	0.36088	N	-0.30427436568147	0.28984	1.603399	-0.19248199269668	0.31812	1.803848	0.999975155369582	0.50053	0.59774	0.34471	0	0.166054	0.03914	2	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.31	2.17	0.26736	2.199000	0.42348	2.688000	0.34067	0.590000	0.31872	0.864000	0.30684	0.998000	0.33993	0.963000	0.52385	0.0:0.1399:0.359:0.5011	7.021	0.24095	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	616.43	34	chr1	54800802	.	G	C	616.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.653;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.14;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1165	9	0	1	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	566.1	44	chr1	54813813	.	G	GA	566.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.989;DP=323;ExcessHet=0.2348;FS=3.528;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.45;ReadPosRankSum=-0.647;SOR=1.189	GT:AD:DP:GQ:PL	0/1:17,6:23:99:105,0,442	8	0	2	0
chr1	56511976	56511976	T	C	exonic	PLPP3	.	nonsynonymous SNV	PLPP3:NM_003713:exon5:c.A810G:p.I270M	.	427	1094	1	0	0	1	0.00045683	0.0507	0.368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0696274306782	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759898320	5.475e-06	5.472e-06	4.085e-06	6.878e-06	0.0003	2.36e-06	1.7e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.656e-05	5.806e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.031	0.53788	D	0.146	0.27821	B	0.369	0.43514	B	0.000507	0.43753	D	0.256920	0.999999	0.58761	D	.	.	.	-0.95	0.75438	T	-1.48	0.36189	N	0.474	0.50958	-0.7432	0.58288	T	0.294	0.66564	T	9	0.26385334	0.43867	T	0.069627	0.70782	D	0.321	0.64318	0.425	0.47021	0.494013581214	0.49034	0.5672986322911534	0.56657	1.47327362475	0.86575	0.534450471401	0.43660	T	0.588503	0.86633	D	-0.123209	0.32599	T	-0.211158	0.53585	T	0.413005832332737	0.29430	T	0.820318	0.47908	T	0.102521986	0.24226	0.14456643	0.34317	0.102521986	0.24226	0.14456643	0.34317	-6.481	0.50140	T	.	.	0.214	0.44332	B	.	.	2.708843	0.35399	19.89	0.99685513712955909	0.79574	0.88553	0.48534	D	AEFBI	0.487032	0.52595	N	-0.0493787954628986	0.39629	2.340165	0.0667689791203222	0.42890	2.602256	0.998499665981663	0.37071	0.722319	0.85440	0	0.610034	0.51514	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	3.61	0.40494	1.609000	0.36469	2.320000	0.32129	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.1605:0.1297:0.0:0.7098	4.563	0.11565	830	0.39242	Phosphatidic acid phosphatase type 2/haloperoxidase|Phosphatidic acid phosphatase type 2/haloperoxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3498.43	230	chr1	56511976	.	T	C	3498.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.359;DP=543;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.621;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	9	0	1	0
chr1	56912476	56912476	G	A	exonic	C8A	.	nonsynonymous SNV	C8A:NM_000562:exon10:c.G1454A:p.R485H	C8 deficiency, type I, Autosomal recessive	1	1291	192	7	31	237	0.0738881	.	.	.	719027	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.308	0.0660108524126	.	0.000599042	0.0018	0.0002	0.0020	0.0001	0	0.0021	0.0011	0.0033	0.0015782	244	154602	rs1620075	0.0013	0.0013	0.0011	0.0014	0.0257	0.0012	0.0012	0.0223	0.0210	0.0003	0.0023	0.0090	0.0001	1.872e-05	0.0257	0.0008	0.0029	0.0038	0.0012	0.0012	0.0012	0.0012	0.0025	0.0011	0.0010	0.0019	0.0017	0.0005	0	0.0025	0.0075	0	0	0.0068	0.0012	0.0019	0.0025	0.037	0.43085	D	0.015	0.61642	D	0.24	0.30857	B	0.071	0.27960	B	0.000972	0.40836	N	0.258044	1	0.08975	P	3.27	0.90083	M	-1.95	0.85003	D	-3.65	0.69950	D	0.179	0.19325	0.005	0.82361	D	0.573	0.84581	D	9	0.0131421685	0.00280	T	0.066011	0.69750	D	0.308	0.62947	.	.	0.789046042334	0.78708	0.6761076518119528	0.67548	0.0419906102033	0.04514	0.198301255703	0.00409	T	0.332225	0.70221	T	-0.378979	0.03162	T	-0.314819	0.43139	T	0.0836411425669685	0.10446	T	0.626737	0.24270	T	0.5649618	0.70783	0.4834557	0.70095	0.5649618	0.70784	0.4834557	0.70095	-9.295	0.69576	D	.	.	0.095	0.14842	B	.	.	1.105418	0.14901	11.42	0.96304848799729081	0.29360	0.07715	0.13717	N	AEFBI	0.602280	0.59420	D	-1.00260874437502	0.08549	0.4012821	-1.08640013410403	0.07967	0.3897349	0.989464276781133	0.31835	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	0.696	0.17237	0.252000	0.18046	-1.678000	0.04932	-0.682000	0.04210	0.001000	0.13787	0.000000	0.08366	0.194000	0.21720	0.4218:0.0:0.5782:0.0	12.471	0.55127	880	0.29376	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	3553.16	35	chr1	56912476	.	G	A	3553.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.83;DP=555;ExcessHet=0.2348;FS=1.534;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=1.43;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1357:.	9	0	1	0
chr1	56940892	56940892	C	T	exonic	C8B	.	stopgain	C8B:NM_000066:exon9:c.G1355A:p.W452X,C8B:NM_001278543:exon10:c.G1199A:p.W400X,C8B:NM_001278544:exon10:c.G1169A:p.W390X	C8 deficiency, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1351333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200077558	1.3e-05	1.3e-05	1.225e-05	1.375e-05	1.709e-05	8.31e-06	6.7e-06	1.093e-05	8.81e-06	0	0	0	0	0	0	1.709e-05	0	0	1.315e-05	1.313e-05	1.285e-05	1.347e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.702	0.71587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614224	0.98017	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.750943	0.99279	43	0.99731189590051472	0.82761	0.98924	0.88695	D	AEFI	0.105271	0.21038	N	0.900365014889063	0.91778	11.059	0.779733292651363	0.88349	9.549396	0.999999955263291	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.25	5.25	0.73169	5.517000	0.66777	4.594000	0.43970	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.208	0.93730	867	0.32089	.;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1396.43	82	chr1	56940892	.	C	T	1396.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.173;DP=390;ExcessHet=0;FS=0.864;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.03;ReadPosRankSum=-0.25;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	9	0	1	0
chr1	58539090	58539090	G	A	exonic	OMA1	.	nonsynonymous SNV	OMA1:NM_145243:exon2:c.C205T:p.H69Y	.	433	1072	16	1	0	18	0.00832562	.	.	.	696814	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0083	0.0105831	0.0035	0.0202	0.0061	0	0	0.0018	0.0055	0.0008	0.0035446	548	154602	rs75220198	0.0026	0.0027	0.0029	0.0024	0.0213	0.0025	0.0025	0.0193	0.0186	0.0209	0.0062	0.0076	0	3.762e-05	0.0213	0.0016	0.0061	0.0008	0.0076	0.0076	0.0077	0.0075	0.0196	0.0072	0.0071	0.0185	0.0180	0.0196	0	0.0136	0.0081	0	0	0.0102	0.0011	0.0100	0.0006	0.647	0.04897	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.282623	0.03843	N	1.424610	1	0.08975	N	-0.09	0.04745	N	2.55	0.30401	T	-0.28	0.26639	N	0.072	0.04547	-1.0471	0.15217	T	0.019	0.07893	T	9	0.0035673082	0.00064	T	.	.	.	0.038	0.09825	.	.	0.0716867268079	0.06686	0.19121802954509343	0.19039	0.0710877946983	0.07967	0.22847956419	0.01857	T	0.003165	0.11750	T	-0.567158	0.00230	T	-0.57054	0.15401	T	0.000551141018948583	0.00005	T	0.570643	0.22456	T	0.014462947	0.00094	0.025972793	0.00663	0.014462947	0.00094	0.025972793	0.00663	-4.386	0.29367	T	.	.	0.067	0.12797	B	.;.;.;.;.;.	.;.;.;.;.;.	0.169778	0.05591	2.045	0.38770388190817467	0.02635	0.06867	0.12892	N	AEFDBI	0.061125	0.11665	N	-1.29365871496088	0.03751	0.1681218	-1.26594598636654	0.04899	0.2321911	6.43101686409418E-5	0.04366	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.65	0.465	0.15923	0.784000	0.26477	0.292000	0.16883	-0.816000	0.03012	0.009000	0.18154	0.000000	0.08366	0.173000	0.21076	0.2027:0.209:0.3746:0.2136	1.288	0.01930	950	0.11238	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.026687	0.080808	0.035326	0.029240	0.050000	0.017241	0.009146	0.000000	0.05	948.43	93	chr1	58539090	.	G	A	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.047;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	9	0	1	0
chr1	59321646	59321646	C	G	exonic	FGGY	.	nonsynonymous SNV	FGGY:NM_001113411:exon2:c.C97G:p.L33V,FGGY:NM_001244714:exon2:c.C97G:p.L33V,FGGY:NM_001350790:exon2:c.C97G:p.L33V,FGGY:NM_001350791:exon2:c.C97G:p.L33V,FGGY:NM_001350794:exon2:c.C97G:p.L33V,FGGY:NM_001350795:exon2:c.C97G:p.L33V,FGGY:NM_018291:exon2:c.C97G:p.L33V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00658430892354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.10838	T	0.752	0.17014	T	0.0	0.02946	B	0.005	0.11217	B	0.001993	0.37503	N	0.179398	0.999998	0.08975	N	0.685	0.16464	N	0.42	0.56937	T	-0.05	0.08033	N	0.07	0.04307	-1.0723	0.08915	T	0.038	0.16333	T	9	0.07695553	0.12086	T	0.006584	0.17358	T	0.019	0.03383	0.439	0.49321	0.0884992946249	0.08302	0.374189757088041	0.37332	0.0261489626011	0.02673	0.3889118433	0.23516	T	0.004116	0.03978	T	-0.166569	0.25755	T	-0.477041	0.24761	T	0.0978046730160713	0.12114	T	0.883212	0.60517	D	0.04983651	0.08912	0.045236386	0.06042	0.04983651	0.08912	0.045236386	0.06042	-4.025	0.25555	T	.	.	0.105	0.21877	B	.;.;.;.;.	.;.;.;.;.	0.788807	0.11589	8.182	0.80252526562547799	0.13116	0.42979	0.26997	N	AEFBI	0.149720	0.27386	N	-0.910757218303322	0.10590	0.5067561	-0.809806032092984	0.14259	0.7440907	0.0261613837719064	0.13695	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.2	2.21	0.27042	1.326000	0.33341	1.726000	0.28294	-0.223000	0.07921	0.852000	0.30477	0.932000	0.28569	0.375000	0.26223	0.2363:0.3365:0.4273:0.0	9.099	0.35817	950	0.11238	.;Carbohydrate kinase, FGGY, N-terminal;.;Carbohydrate kinase, FGGY, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1648.43	33	chr1	59321646	.	C	G	1648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.501;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=0.699;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	9	0	1	0
chr1	59346346	59346346	G	A	exonic	FGGY	.	nonsynonymous SNV	FGGY:NM_001350796:exon3:c.G77A:p.G26E,FGGY:NM_001350798:exon3:c.G77A:p.G26E,FGGY:NM_001350799:exon3:c.G77A:p.G26E,FGGY:NM_001113411:exon4:c.G413A:p.G138E,FGGY:NM_001350790:exon4:c.G413A:p.G138E,FGGY:NM_001350791:exon4:c.G413A:p.G138E,FGGY:NM_001350794:exon4:c.G413A:p.G138E,FGGY:NM_018291:exon4:c.G413A:p.G138E,FGGY:NM_001350792:exon6:c.G245A:p.G82E,FGGY:NM_001350793:exon6:c.G245A:p.G82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.738	0.193895882663	.	.	8.266e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs779045174	6.166e-06	6.156e-06	4.09e-06	8.263e-06	3.598e-06	2.9e-06	2.1e-06	8.4e-07	5.7e-07	0	0	0	0	9.361e-05	0	3.598e-06	0	0	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.08	0.97210	H	-0.42	0.69536	T	-7.82	0.95977	D	0.935	0.94432	0.464	0.90039	D	0.629	0.86972	D	9	0.9892709	0.99383	D	0.193896	0.86330	D	0.738	0.90895	0.949	0.99388	0.581818759506	0.57853	0.9134911326794277	0.91324	0.22430122532	0.24958	0.675413250923	0.63611	T	0.230378	0.65238	T	0.393456	0.89533	D	0.327396	0.89401	D	0.999330282211304	0.97004	D	0.999084	0.99613	D	0.92842937	0.94080	0.91178113	0.95816	0.92842937	0.94081	0.91178113	0.95816	-14.052	0.93931	D	.	.	0.956	0.93009	P	.;.;.	.;.;.	4.133872	0.61886	24.4	0.99589933293571298	0.73513	0.68214	0.33718	D	AEFBCI	0.931117	0.91945	D	0.798131249997956	0.85989	8.743732	0.662830339976439	0.79568	7.110282	0.999999995846619	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.622129	0.49086	0	.	.	5.49	5.49	0.81022	8.715000	0.91114	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	19.180	0.93604	963	0.08280	Carbohydrate kinase, FGGY, N-terminal;.;Carbohydrate kinase, FGGY, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1452.43	34	chr1	59346346	.	G	A	1452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.821;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=1.12;SOR=0.661	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	9	0	1	0
chr1	60040005	60040005	C	T	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.G659A:p.R220H	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00591110923169	0.0019	0.00139776	0.0026	0.0004	0.0013	0.0002	0.0018	0.0028	0.0011	0.0053	0.0023286	360	154602	rs150454796	0.0021	0.0021	0.0020	0.0022	0.0071	0.0020	0.0020	0.0054	0.0048	0.0009	0.0015	0.0100	0.0001	0.0014	0.0071	0.0018	0.0028	0.0045	0.0018	0.0018	0.0019	0.0018	0.0037	0.0016	0.0016	0.0024	0.0020	0.0003	0	0.0020	0.0075	0.0002	0.0025	0.0068	0.0023	0.0024	0.0037	0.676	0.04482	T	0.322	0.19016	T	0.0	0.02946	B	0.001	0.04355	B	0.574333	0.05498	N	1.228140	1	0.08975	N	-0.515	0.02571	N	0.94	0.43672	T	-0.51	0.15986	N	0.021	0.00339	-0.9697	0.37262	T	0.042	0.18076	T	10	0.005159229	0.00112	T	0.005911	0.15400	T	0.047	0.12962	.	.	0.17948927462	0.17512	0.18253245908563692	0.18172	0.0623679061293	0.06938	.	.	.	0.005315	0.04761	T	-0.656427	0.00066	T	-0.715148	0.05033	T	0.000996837629543356	0.00010	T	0.442656	0.12286	T	0.024146888	0.01219	0.043069344	0.05276	0.024146888	0.01218	0.043069344	0.05276	-7.115	0.54868	T	.	.	0.065	0.01810	B	.	.	-2.662912	0.00021	0.001	0.78058247102254086	0.12138	0.00337	0.01752	N	AEFI	0.028525	0.02529	N	-1.86100754950578	0.00412	0.01772754	-1.88722618413857	0.00519	0.02299955	0.963407202579136	0.28688	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.18	-8.79	0.00709	-3.551000	0.00484	-20.000000	0.00162	-1.748000	0.00692	0.000000	0.06391	0.000000	0.08366	0.560000	0.30412	0.0:0.2006:0.0:0.7994	17.217	0.86829	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.008152	0.002924	0.000000	0.000000	0.006098	0.007576	0.1	2473.12	35	chr1	60040005	.	C	T	2473.12	.	AC=2;AF=0.1;AN=20;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.16;SOR=0.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	1	0	0
chr1	60040099	60040099	G	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon5:c.C565G:p.P189A	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00719872791336	0.0019	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0050	0.0022639	350	154602	rs11585228	0.0020	0.0020	0.0019	0.0021	0.0071	0.0020	0.0019	0.0054	0.0048	0.0007	0.0015	0.0100	5.038e-05	0.0014	0.0071	0.0018	0.0028	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0.0002	0.0024	0.0068	0.0023	0.0024	0.0035	0.099	0.30656	T	0.0	0.92824	D	0.004	0.12183	B	0.006	0.12133	B	0.608251	0.10892	N	0.808768	1	0.08975	N	2.175	0.60977	M	1.02	0.40749	T	-3.83	0.72120	D	0.084	0.06059	-0.9696	0.37283	T	0.087	0.33662	T	10	0.009225935	0.00208	T	0.007199	0.19089	T	0.049	0.13647	.	.	0.318252033908	0.31440	0.08055325296208754	0.07990	0.051673236916	0.05686	.	.	.	0.020848	0.16341	T	-0.566595	0.00232	T	-0.586384	0.13980	T	0.00977125481276247	0.00128	T	0.49705	0.15447	T	0.07851274	0.17883	0.08221232	0.18746	0.07851274	0.17882	0.08221232	0.18746	-4.108	0.25408	T	.	.	0.099	0.16538	B	.	.	0.207856	0.05916	2.358	0.58454737945237512	0.05997	0.05983	0.11944	N	AEFI	0.070639	0.14031	N	-0.825917449351535	0.12650	0.6179676	-0.913139151063799	0.11783	0.6024245	5.85137247288541E-4	0.07390	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.03	-0.765	0.10468	1.204000	0.31902	0.437000	0.18385	0.676000	0.76740	0.070000	0.22072	0.001000	0.17328	0.020000	0.11549	0.1797:0.2764:0.402:0.1419	2.030	0.03314	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006054	0.005051	0.008152	0.005848	0.000000	0.000000	0.006135	0.007576	0.1	2321.12	35	chr1	60040099	.	G	C	2321.12	.	AC=2;AF=0.1;AN=20;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.8;SOR=1.103	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	1	0	0
chr1	60041001	60041001	T	C	exonic	C1orf87	.	nonsynonymous SNV	C1orf87:NM_152377:exon4:c.A473G:p.D158G	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00311631352435	0.0020	0.00119808	0.0025	0.0004	0.0012	0.0002	0.0018	0.0028	0.0011	0.0056	0.0022574	349	154602	rs145230176	0.0020	0.0020	0.0019	0.0021	0.0070	0.0020	0.0019	0.0053	0.0047	0.0007	0.0015	0.0101	2.524e-05	0.0014	0.0070	0.0018	0.0026	0.0043	0.0018	0.0018	0.0019	0.0017	0.0035	0.0016	0.0016	0.0022	0.0019	0.0003	0	0.0020	0.0075	0	0.0025	0.0068	0.0023	0.0024	0.0035	0.704	0.04120	T	0.809	0.03956	T	0.001	0.07471	B	0.002	0.06944	B	0.545901	0.11487	N	0.779066	1	0.08975	N	1.4	0.35362	L	2.23	0.18083	T	-0.88	0.23808	N	0.075	0.04913	-0.9527	0.40503	T	0.025	0.10866	T	10	0.00558576	0.00123	T	0.003116	0.06756	T	0.033	0.08068	.	.	0.139678290688	0.13603	0.1458111418850888	0.14503	0.0654620922164	0.07306	.	.	.	0.002106	0.01509	T	-0.742369	0.00020	T	-0.839009	0.01114	T	0.000320272311906492	0.00003	T	0.432757	0.11777	T	0.048990704	0.08626	0.0663158	0.13568	0.048990704	0.08626	0.0663158	0.13568	-2.906	0.09203	T	.	.	0.075	0.05668	B	.	.	0.055736	0.04680	1.326	0.71697848114821094	0.09717	0.00994	0.03770	N	AEFI	0.031967	0.03522	N	-0.96971236975053	0.09255	0.4372813	-0.929877580288252	0.11391	0.580026	5.61244375151907E-4	0.07335	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.25	0.441	0.15789	-0.251000	0.08837	-0.680000	0.07891	-0.242000	0.07441	0.002000	0.15269	0.000000	0.08366	0.070000	0.16646	0.0:0.5913:0.0:0.4087	7.769	0.28162	876	0.30350	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006061	0.005051	0.008152	0.005848	0.000000	0.000000	0.006173	0.007576	0.1	4252.12	34	chr1	60041001	.	T	C	4252.12	.	AC=2;AF=0.1;AN=20;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.27;SOR=0.917	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	9	1	0	0
chr1	62450619	62450619	A	G	exonic	USP1	.	nonsynonymous SNV	USP1:NM_001017415:exon9:c.A1996G:p.I666V,USP1:NM_001017416:exon9:c.A1996G:p.I666V,USP1:NM_003368:exon9:c.A1996G:p.I666V	.	427	1043	51	1	0	53	0.0247779	.	.	.	2808940	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.294	0.00157778008887	0.0013	0.00219649	0.0030	0.0002	0.0023	0	0	0.0027	0.0044	0.0091	0.0028395	439	154602	rs141001844	0.0020	0.0020	0.0016	0.0023	0.0295	0.0019	0.0019	0.0259	0.0245	0.0006	0.0023	0.0191	0	9.368e-05	0.0295	0.0009	0.0041	0.0092	0.0024	0.0024	0.0022	0.0025	0.0070	0.0022	0.0021	0.0052	0.0045	0.0001	0.0899	0.0025	0.0204	0	0	0.0510	0.0015	0.0057	0.0070	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000008	0.62929	N	0.109127	0.863988	0.28312	N	-1.9	0.00240	N	2.78	0.11298	T	0.06	0.06253	N	0.027	0.00571	-0.9329	0.43710	T	0.009	0.03359	T	10	0.0028123558	0.00044	T	0.001578	0.02523	T	0.294	0.61388	.	.	0.043077524339	0.03247	0.12277180186797472	0.12203	0.0809128222663	0.09109	0.262857377529	0.05235	T	0.077786	0.35738	T	-0.735338	0.00022	T	-0.823065	0.01391	T	0.00143022983137073	0.00014	T	0.530047	0.17581	T	0.046241585	0.07707	0.059083413	0.11029	0.046241585	0.07707	0.059083413	0.11029	-2.613	0.06603	T	.	.	0.049	0.00112	B	.;.	.;.	-1.993868	0.00102	0.002	0.74274434919979704	0.10634	0.11600	0.16740	N	AEFDGBI	0.045861	0.07548	N	-1.10456425471422	0.06562	0.3023988	-0.932802013638722	0.11323	0.5761336	0.833729220619067	0.24739	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	-2.28	0.06438	0.242000	0.17862	-5.550000	0.01678	-2.134000	0.00380	0.612000	0.27847	0.000000	0.08366	0.824000	0.38829	0.2925:0.0:0.7075:0.0	12.722	0.56521	866	0.32446	Ubiquitin specific protease domain;Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021148	0.005051	0.025815	0.052632	0.050000	0.034483	0.012195	0.003788	0.05	1374.43	36	chr1	62450619	.	A	G	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.848;DP=438;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.027;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	9	0	1	0
chr1	62654023	62654023	C	T	exonic	DOCK7	.	nonsynonymous SNV	DOCK7:NM_001271999:exon3:c.G281A:p.R94Q,DOCK7:NM_001272000:exon3:c.G281A:p.R94Q,DOCK7:NM_001272001:exon3:c.G281A:p.R94Q,DOCK7:NM_001272002:exon3:c.G281A:p.R94Q,DOCK7:NM_001330614:exon3:c.G281A:p.R94Q,DOCK7:NM_001367561:exon3:c.G281A:p.R94Q,DOCK7:NM_033407:exon3:c.G281A:p.R94Q	Epileptic encephalopathy, early infantile, 23, Autosomal recessive	434	1087	1	0	0	1	0.00045977	.	.	.	732547	Developmental_and_epileptic_encephalopathy,_23|not_provided	MONDO:MONDO:0014371,MedGen:C4014492,OMIM:615859,Orphanet:411986|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.301	.	.	0.00319489	0.0017	0	8.721e-05	0	0	7.515e-05	0.0022	0.0121	0.0014618	226	154602	rs570514826	0.0008	0.0008	0.0005	0.0012	0.0126	0.0008	0.0008	0.0120	0.0117	8.962e-05	4.474e-05	0	7.561e-05	0	0.0009	6.835e-05	0.0009	0.0126	0.0005	0.0005	0.0002	0.0008	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0.0002	0	0	1.471e-05	0	0.0147	0.003	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.948	0.68536	D	0.000000	0.84330	D	0.044896	1	0.81001	D	2.675	0.78361	M	0.28	0.59037	T	-2.9	0.68999	D	0.911	0.93487	-0.3914	0.72297	T	0.357	0.71967	T	10	0.007990241	0.00181	T	.	.	.	0.301	0.62179	0.599	0.72984	0.626022771783	0.62297	0.7785082929031828	0.77800	0.831224666612	0.67627	0.562829732895	0.47667	T	0.401358	0.75868	T	-0.133251	0.30972	T	0.0468484	0.73376	D	0.105697195975679	0.12971	T	0.89741	0.64114	D	0.4698182	0.65279	0.26132175	0.51908	0.48545063	0.66230	0.27608937	0.53550	-2.097	0.07455	T	.	.	0.327	0.68817	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.126802	0.85775	28.7	0.99961524852797257	0.99998	0.97780	0.77079	D	AEFBI	0.842581	0.75968	D	0.836207887043784	0.88308	9.530264	0.798774955109887	0.89707	10.08774	0.99999999963592	0.74766	0.638212	0.43195	0	0.546412	0.12157	0	0.653264	0.51672	0	0.645948	0.59608	0	.	.	5.16	5.16	0.70563	7.545000	0.81074	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.818	0.92051	867	0.32089	.;.;.;.;.;Dedicator of cytokinesis C/D, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	768.43	37	chr1	62654023	.	C	T	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.752;SOR=0.736	GT:AD:DP:GQ:PL	0/1:29,32:61:99:780,0,618	9	0	1	0
chr1	62864106	62864106	G	T	exonic	ATG4C	.	nonsynonymous SNV	ATG4C:NM_032852:exon11:c.G1324T:p.D442Y,ATG4C:NM_178221:exon11:c.G1324T:p.D442Y	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00404425314136	0.0012	0.000599042	0.0015	0.0003	8.787e-05	0	0.0006	0.0022	0	0.0021	0.0015524	240	154602	rs144423131	0.0019	0.0019	0.0018	0.0019	0.0024	0.0018	0.0018	0.0022	0.0021	0.0003	0.0005	0.0010	0	0.0018	0.0005	0.0021	0.0010	0.0024	0.0014	0.0014	0.0014	0.0014	0.0020	0.0013	0.0012	0.0018	0.0017	0.0003	0	0.0014	0.0012	0	0.0023	0	0.0020	0.0024	0.0017	0.024	0.47745	D	0.062	0.45318	T	0.459	0.36338	P	0.248	0.38946	B	0.000013	0.62929	D	0.145045	0.99995	0.52396	D	2.08	0.57402	M	.	.	.	-2.07	0.47344	N	0.399	0.44666	-0.8484	0.52079	T	0.154	0.48412	T	9	0.0134164095	0.00285	T	0.004044	0.09618	T	0.121	0.33580	.	.	0.582449840715	0.57917	0.5920656174368618	0.59136	0.0509601143664	0.05602	0.473263263702	0.35129	T	0.423208	0.77404	T	-0.257292	0.13218	T	-0.143831	0.59785	T	0.0509049364893792	0.05658	T	0.884911	0.60954	D	0.37043568	0.58617	0.2593931	0.51687	0.37043568	0.58617	0.2593931	0.51686	-5.04	0.37271	T	.	.	0.087	0.11366	B	.;.	.;.	4.130967	0.61814	24.4	0.98939227030873456	0.48902	0.93247	0.57710	D	AEFI	0.528888	0.55022	D	0.187495357193492	0.50597	3.248293	0.268647949672856	0.53718	3.539386	0.0946602603244771	0.16210	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.37	4.44	0.53164	5.486000	0.66578	11.828000	0.97436	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8576:0.1424	15.168	0.72525	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	334.43	33	chr1	62864106	.	G	T	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.587;DP=348;ExcessHet=0;FS=1.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=0.015;SOR=0.387	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	9	0	1	0
chr1	63651700	63651700	G	A	exonic	PGM1	.	nonsynonymous SNV	PGM1:NM_001172818:exon9:c.G1366A:p.A456T,PGM1:NM_001172819:exon9:c.G721A:p.A241T,PGM1:NM_002633:exon9:c.G1312A:p.A438T	Congenital disorder of glycosylation, type It, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1927854	PGM1-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.396	0.0381336770999	.	0.000199681	5.054e-05	0.0002	8.839e-05	0	0	4.592e-05	0	0	6.47e-05	10	154602	rs201303497	1.369e-05	1.573e-05	9.532e-06	1.788e-05	0.0002	8.94e-06	7.27e-06	8.36e-06	5.72e-06	0	2.238e-05	0	5.044e-05	0	0.0002	1.259e-05	3.314e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.406e-05	0	0	0	0	0	0	2.94e-05	0	0	0.069	0.36310	T	0.015	0.61642	D	0.94	0.77913	P	0.306	0.59428	B	0.000000	0.84330	D	0.000000	0.999295	0.46578	D	3.675	0.94400	H	0.79	0.49068	T	-2.64	0.58085	D	0.635	0.64818	-0.3323	0.74067	T	0.263	0.63394	T	10	0.61328554	0.67564	D	0.038134	0.58041	D	0.396	0.71084	.	.	0.686562002565	0.68387	0.6649921547793766	0.66436	0.567138394775	0.52986	0.583700299263	0.50607	T	0.719569	0.92064	D	0.077768	0.61778	D	0.0560788	0.73985	D	0.943886935710907	0.61949	D	0.918108	0.70532	D	0.53216815	0.68954	0.28257906	0.54247	0.53216815	0.68955	0.28257906	0.54246	-8.03	0.68038	D	0.4963731691693412	0.57235	0.681	0.72474	P	.;.;.;.	.;.;.;.	4.819160	0.78469	26.9	0.99927978759564073	0.99222	0.95702	0.65792	D	AEFGBCI	0.954016	0.97078	D	0.661565365954056	0.77118	6.613783	0.582806570477629	0.73706	6.014803	0.999999997431719	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.69	4.78	0.60666	8.146000	0.89551	9.998000	0.83025	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.848000	0.40082	0.0679:0.0:0.9321:0.0	15.182	0.72653	903	0.23940	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2532.43	35	chr1	63651700	.	G	A	2532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.503;DP=522;ExcessHet=0;FS=5.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.54;SOR=0.418	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1323	9	0	1	0
chr1	64178209	64178209	G	C	exonic	ROR1	.	nonsynonymous SNV	ROR1:NM_005012:exon9:c.G2168C:p.S723T	.	429	1084	9	0	0	9	0.00413413	.	.	.	1501728	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0131270095098	7.7e-05	.	0.0003	9.615e-05	0	0	0	0.0003	0.0011	0.0013	0.0002652	41	154602	rs371601159	0.0002	0.0002	0.0001	0.0002	0.0123	0.0002	0.0002	0.0100	0.0092	8.961e-05	0	0.0008	0	0	0.0123	2.968e-05	0.0003	0.0014	0.0001	0.0001	3.856e-05	0.0002	0.0031	8.167e-05	6.723e-05	0.0019	0.0016	2.407e-05	0	0	0	0	0	0.0034	1.47e-05	0.0005	0.0031	0.152	0.24468	T	0.539	0.11299	T	0.119	0.26641	B	0.122	0.32387	B	0.002653	0.36173	N	0.122893	0.998165	0.44581	D	0.735	0.18861	N	0.0	0.62608	T	-1.92	0.44657	N	0.296	0.33469	-1.0278	0.21168	T	0.096	0.36263	T	10	0.0612697	0.07655	T	0.013127	0.32289	T	0.040	0.10527	.	.	0.398365109743	0.39450	0.5552575564902293	0.55452	0.396995801729	0.40801	0.712590515614	0.68969	T	0.321446	0.69254	T	-0.389523	0.02709	T	-0.367677	0.37159	T	0.024406061091393	0.01196	T	0.846115	0.52582	T	0.23783943	0.46653	0.17082903	0.39221	0.20582056	0.42736	0.17236112	0.39485	-6.309	0.48793	T	.	.	0.067	0.03093	B	.;.	.;.	1.641907	0.20951	14.99	0.94755494463294709	0.25460	0.98048	0.79160	D	AEFBI	0.497821	0.53218	N	-0.101113329243474	0.37345	2.171319	0.0607145502927091	0.42593	2.578897	0.862192913373152	0.25248	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.98	4.11	0.47350	4.095000	0.57456	3.607000	0.39241	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0658:0.1235:0.8106:0.0	11.843	0.51639	944	0.12746	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.001359	0.020468	0.000000	0.000000	0.000000	0.011364	0.05	2144.43	184	chr1	64178209	.	G	C	2144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3;DP=547;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.802;SOR=0.751	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,114,1710	9	0	1	0
chr1	65392685	65392685	C	G	exonic	DNAJC6	.	nonsynonymous SNV	DNAJC6:NM_001256864:exon12:c.C1723G:p.P575A,DNAJC6:NM_014787:exon12:c.C1552G:p.P518A,DNAJC6:NM_001256865:exon13:c.C1513G:p.P505A	Parkinson disease 19a, juvenile-onset, Autosomal recessive;Parkinson disease 19b, early-onset, Autosomal recessive	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.0210348070964	0.0002	.	1.67e-05	9.658e-05	0	0	0	1.512e-05	0	0	1.29e-05	2	154602	rs201900120	4.451e-05	4.446e-05	4.632e-05	4.267e-05	0.0099	3.578e-05	3.26e-05	0.0078	0.0071	0	2.244e-05	0	0	0	0.0099	3.599e-06	4.973e-05	0	1.972e-05	1.97e-05	3.855e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.341	0.13610	T	0.396	0.23097	T	0.011	0.21002	B	0.005	0.21540	B	0.000058	0.53742	D	0.171324	0.999736	0.48635	D	1.5	0.37844	L	-2.96	0.92007	D	-0.56	0.18877	N	0.184	0.21056	-0.2619	0.76036	T	0.519	0.82038	D	9	0.13092601	0.24916	T	0.021035	0.43745	T	0.439	0.74306	.	.	0.337439445736	0.33357	0.19864149846702223	0.19781	0.31714013456	0.33961	0.47977489233	0.36025	T	0.069394	0.33698	T	-0.123341	0.32578	T	-0.23342	0.51440	T	0.0717002082179946	0.08888	T	0.844516	0.52185	T	0.058517948	0.11782	0.07669368	0.17011	0.058517948	0.11782	0.07669368	0.17011	-3.648	0.18553	T	.	.	0.061	0.01834	B	.;.;.	.;.;.	3.013544	0.40311	21.1	0.89130338975973045	0.18536	0.88358	0.48249	D	AEFBI	0.319602	0.42296	N	-0.0757387046120789	0.38459	2.25282	0.101672348409563	0.44635	2.74136	0.999452607337871	0.39788	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.65	5.65	0.86881	4.298000	0.58863	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.914	0.97044	786	0.46839	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1579.43	126	chr1	65392685	.	C	G	1579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=488;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=1.26;SOR=0.537	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr1	65918827	65918827	C	A	exonic	PDE4B	.	nonsynonymous SNV	PDE4B:NM_001037341:exon3:c.C273A:p.S91R,PDE4B:NM_002600:exon3:c.C273A:p.S91R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0056647794725	.	.	.	.	.	.	.	.	.	.	.	.	.	rs930611504	1.386e-06	5.474e-06	2.762e-06	0	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.132e-07	0	1.164e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.188	0.21304	T	0.313	0.19539	T	0.002	0.09854	B	0.006	0.12133	B	0.450132	0.12518	N	0.770400	0.825475	0.28828	N	0.975	0.24501	L	2.3	0.16953	T	-0.72	0.20358	N	0.213	0.23758	-1.0047	0.28547	T	0.014	0.05369	T	10	0.109785825	0.20494	T	0.005665	0.14651	T	0.025	0.05312	0.223	0.14665	0.102598925029	0.09809	.	.	0.527046185779	0.50316	0.709200382233	0.68478	T	0.203894	0.56250	T	-0.216868	0.18422	T	-0.549293	0.17393	T	0.38453778649189	0.28357	T	0.483852	0.14720	T	0.21276075	0.43637	0.203509	0.44430	0.21276075	0.43637	0.203509	0.44429	-5.297	0.39913	T	.	.	0.241	0.47492	B	.;.	.;.	3.356473	0.46317	22.3	0.98189762484663534	0.39018	0.88112	0.47899	D	AEFBI	0.469538	0.51587	N	-0.136516051235787	0.35810	2.061693	0.0883164132709285	0.43958	2.687029	0.0113609981597073	0.12171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	2.057000	0.40991	4.828000	0.45175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8468:0.1532:0.0	13.855	0.63017	828	0.39726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	695.43	35	chr1	65918827	.	C	A	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.085;DP=380;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=0.044;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	9	0	1	0
chr1	67182913	67182913	G	A	exonic	IL23R	.	nonsynonymous SNV	IL23R:NM_144701:exon4:c.G445A:p.G149R	.	422	1094	5	1	0	7	0.00318907	.	.	.	1153674	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0031	0.0111821	0.0071	0.0012	0.0071	0.0512	0.0064	0.0037	0.0044	0.0016	0.0067852	1049	154602	rs76418789	0.0063	0.0063	0.0064	0.0062	0.0628	0.0062	0.0061	0.0608	0.0599	0.0007	0.0061	0.0002	0.0628	0.0053	0.0017	0.0049	0.0069	0.0029	0.0050	0.0050	0.0052	0.0047	0.0444	0.0047	0.0045	0.0397	0.0378	0.0005	0.0099	0.0034	0.0003	0.0444	0.0066	0	0.0052	0.0019	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000099	0.51296	D	0.132706	0.999622	0.47904	D	2.815	0.81989	M	0.49	0.55775	T	-7.86	0.96085	D	0.921	0.92433	-0.3225	0.74352	T	0.318	0.68779	T	10	0.008963466	0.00203	T	.	.	.	0.331	0.65325	0.484	0.56621	0.857617907083	0.85624	0.9166954182914536	0.91644	0.759124871029	0.64150	0.523234724998	0.42081	T	0.692949	0.91089	D	-0.0737695	0.40724	T	0.176331	0.81784	D	0.0502850754697659	0.05550	T	0.864814	0.56255	D	0.8911355	0.90604	0.7783029	0.86925	0.8911355	0.90606	0.7783029	0.86926	-8.743	0.66027	D	.	.	0.512	0.65141	A	.	.	4.576904	0.72268	25.8	0.99937433696193656	0.99661	0.90198	0.51187	D	AEFBI	0.625136	0.60845	D	0.755388666411983	0.83254	7.969833	0.693267314173342	0.81867	7.628266	0.0233105093093452	0.13497	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.24	5.24	0.72863	5.262000	0.65319	11.767000	0.95766	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:1.0:0.0	14.342	0.66193	592	0.68746	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	1482.43	37	chr1	67182913	.	G	A	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.372;SOR=0.732	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr1	68438977	68438977	A	C	exonic	RPE65	.	nonsynonymous SNV	RPE65:NM_000329:exon9:c.T963G:p.N321K	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive	0	1482	40	0	0	40	0.0133156	.	.	YES	98767	Leber_congenital_amaurosis|Retinitis_pigmentosa|Joubert_syndrome_9|not_provided|Retinitis_pigmentosa_20|Leber_congenital_amaurosis_2|RPE65-related_recessive_retinopathy|not_specified	MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MedGen:C3661900|MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791|MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65|MONDO:MONDO:0100368,MedGen:CN305526|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.215	.	0.0008	0.00499201	0.0054	0.0003	0.0013	0.0001	0	0.0012	0.0088	0.0328	0.0045278	700	154602	rs149916178	0.0028	0.0028	0.0016	0.0039	0.0357	0.0027	0.0027	0.0346	0.0342	0.0001	0.0011	0.0043	2.52e-05	1.872e-05	0.0090	0.0005	0.0026	0.0357	0.0014	0.0014	0.0008	0.0021	0.0280	0.0013	0.0012	0.0242	0.0227	9.628e-05	0	0.0008	0.0060	0.0004	0	0	0.0006	0.0019	0.0280	0.075	0.34444	T	0.146	0.32891	T	0.013	0.16609	B	0.027	0.21085	B	0.000617	0.42945	D	0.265288	0.999999	0.08975	N	1.575	0.39704	L	-3.49	0.94621	D	-1.32	0.32991	N	0.416	0.45615	-0.3705	0.72946	T	0.503	0.81256	D	10	0.011144489	0.00245	T	.	.	.	0.215	0.50805	0.835	0.94294	0.775488474258	0.77342	0.5935617026209556	0.59286	0.0643189233085	0.07168	0.274915516376	0.06793	T	0.72609	0.92296	D	-0.37845	0.03186	T	-0.290632	0.45707	T	0.00814690459576519	0.00097	T	0.927007	0.73102	D	0.18744066	0.40198	0.21505415	0.46079	0.18744066	0.40198	0.21505415	0.46079	-5.8	0.44574	T	0.21033390043485128	0.28177	0.121	0.25166	B	.	.	1.060416	0.14419	11.00	0.94426477776346773	0.24837	0.45798	0.27618	N	AEFBI	0.139898	0.26164	N	-0.9372702875546	0.09980	0.4748083	-0.892985305148867	0.12260	0.629581	0.607420407576686	0.21776	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	-0.301	0.12165	0.135000	0.15775	0.067000	0.14209	-0.562000	0.04833	0.889000	0.31176	0.000000	0.08366	0.953000	0.50222	0.4224:0.0:0.5776:0.0	9.370	0.37408	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.018939	0.05	1161.43	33	chr1	68438977	.	A	C	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=394;ExcessHet=0;FS=5.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.078;SOR=1.063	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	9	0	1	0
chr1	68494608	68494608	C	A	exonic	DEPDC1	.	nonsynonymous SNV	DEPDC1:NM_001114120:exon2:c.G136T:p.A46S,DEPDC1:NM_017779:exon2:c.G136T:p.A46S	.	639	880	2	1	0	4	0.00226757	.	.	.	3237109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.0264316345784	.	.	4.958e-05	0	0	0	0	4.503e-05	0	0.0002	4.53e-05	7	154602	rs776724301	8.142e-05	8.14e-05	5.991e-05	0.0001	0.0007	6.936e-05	6.488e-05	0.0004	0.0004	0	6.709e-05	0	0	0	0.0007	5.577e-05	4.97e-05	0.0005	3.939e-05	3.937e-05	3.854e-05	4.027e-05	0.0004	1.714e-05	1.129e-05	7.285e-05	3.027e-05	0	0	6.533e-05	0	0	0	0.0034	2.94e-05	0	0.0004	0.083	0.40068	T	0.009	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	2.43	0.15261	T	-1.92	0.44657	N	0.815	0.81957	-1.0404	0.17192	T	0.107	0.38931	T	9	0.79532504	0.79018	D	0.026432	0.49337	D	0.293	0.61272	0.651	0.78858	0.528761452848	0.52524	0.736500165403895	0.73595	0.367955838784	0.38357	0.662032604218	0.61700	T	0.061151	0.31577	T	-0.125394	0.32243	T	-0.0816368	0.64784	T	0.22222497710162	0.21574	T	0.922208	0.71716	D	0.2117917	0.43513	0.22816494	0.47849	0.2117917	0.43513	0.22816494	0.47848	-6.308	0.50739	T	.	.	0.363	0.57374	A	.;.	.;.	4.796083	0.77887	26.8	0.99749997232558008	0.84152	0.98318	0.81579	D	AEFBI	0.911525	0.87091	D	0.83308675803367	0.88124	9.462367	0.812675261951308	0.90662	10.50972	0.999999999999994	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.631631	0.49550	0	.	.	5.58	5.58	0.84361	7.506000	0.80535	7.635000	0.62917	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.152	0.93478	946	0.12043	DEP domain|DEP domain|DEP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001043	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.003876	0.05	1457.43	33	chr1	68494608	.	C	A	1457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.026;DP=429;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.44;MQRankSum=0.008;QD=12.46;ReadPosRankSum=-0.584;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1122	9	0	1	0
chr1	71066821	71066821	G	A	exonic	ZRANB2	.	nonsynonymous SNV	ZRANB2:NM_005455:exon9:c.C884T:p.S295F,ZRANB2:NM_203350:exon9:c.C884T:p.S295F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0189465933074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.68238	D	0.082	0.44302	T	0.651	0.40707	P	0.174	0.41883	B	.	.	.	.	0.998568	0.45092	D	0.695	0.17993	N	-0.19	0.65931	T	-0.64	0.18670	N	0.374	0.41952	-0.8316	0.53198	T	0.135	0.45010	T	9	0.19049472	0.34695	T	0.018947	0.41175	T	0.215	0.50805	0.291	0.25241	0.187035705434	0.18338	0.38780095115433355	0.38695	0.141070614685	0.15908	0.495897978544	0.38257	T	0.116971	0.43670	T	-0.0232086	0.48394	T	-0.271114	0.47707	T	0.744295532847505	0.42970	D	0.79692	0.44184	T	0.11399384	0.26916	0.23015772	0.48110	0.11399384	0.26916	0.23015772	0.48109	-6.931	0.53529	T	.	.	0.159	0.39305	B	.;.;.	.;.;.	5.063353	0.84412	28.3	0.99647130912056003	0.77068	0.99574	0.97595	D	AEFGBI	0.890028	0.82468	D	0.424570282885654	0.62776	4.499272	0.580820763597451	0.73566	5.99142	0.99999999999978	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.84	5.84	0.93373	9.602000	0.97623	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.144	0.98070	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5307.12	34	chr1	71066821	.	G	A	5307.12	.	AC=2;AF=0.1;AN=20;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.53;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1261	9	1	0	0
chr1	74463486	74463486	T	C	exonic	FPGT-TNNI3K;TNNI3K	.	nonsynonymous SNV	TNNI3K:NM_015978:exon21:c.T2057C:p.I686T,FPGT-TNNI3K:NM_001112808:exon23:c.T2360C:p.I787T,FPGT-TNNI3K:NM_001199327:exon23:c.T2360C:p.I787T	.	426	999	89	8	0	105	0.0499287	.	.	.	983822	not_specified|not_provided|TNNI3K-related_disorder|Atrial_conduction_disease	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0014500,MedGen:C4015285,OMIM:616117,Orphanet:436242	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.612	.	0.0041	0.0209665	0.0169	0.0061	0.0302	0.0441	0.0219	0.0060	0.0220	0.0415	0.015058	2328	154602	rs3737564	0.0085	0.0085	0.0076	0.0095	0.0415	0.0084	0.0084	0.0398	0.0391	0.0061	0.0254	0.0086	0.0415	0.0209	0.0310	0.0034	0.0136	0.0386	0.0098	0.0098	0.0087	0.0109	0.0443	0.0094	0.0092	0.0394	0.0375	0.0060	0	0.0145	0.0101	0.0409	0.0220	0.0170	0.0042	0.0123	0.0443	0.677	0.78490	T	0.002	0.79402	D	0.684	0.41517	P	0.272	0.39956	B	0.000020	0.62929	D	0.116676	0.999935	0.52935	D	2.225	0.63025	M	-1.52	0.81987	D	1.58	0.67477	N	0.512	0.56403	0.007	0.82391	D	0.428	0.77088	T	10	0.008914053	0.00202	T	.	.	.	0.612	0.84826	.	.	.	.	0.6018879179360921	0.73885	0.0332647967301	0.03475	.	.	.	0.54971	0.84731	D	-0.123018	0.32630	T	0.0819324	0.75706	D	0.0199967337014551	0.00700	T	0.890111	0.62362	D	0.66958565	0.76410	0.6346558	0.78674	0.66958565	0.76412	0.6346558	0.78675	-8.973	0.67523	D	0.2936958081766033	0.39050	0.154	0.45883	B	.;.;.	.;.;.	3.562511	0.50129	22.9	0.99666196559818743	0.78266	0.97744	0.76819	D	AEFGBCIJ	0.860783	0.77871	D	0.518357775504104	0.68177	5.181282	0.592106041842497	0.74370	6.125954	0.999999998736648	0.74766	0.554377	0.28877	0	0.624306	0.53593	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.91	5.91	0.95240	7.443000	0.79636	3.381000	0.38003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.002	0.80097	893	0.26510	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.015152	0.025815	0.014620	0.000000	0.025862	0.030488	0.041667	0.05	3030.43	39	chr1	74463486	.	T	C	3030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.285;DP=563;ExcessHet=0;FS=0.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.701;SOR=0.677	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1370	9	0	1	0
chr1	74571882	74571882	C	G	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon14:c.G3828C:p.E1276D	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0042	0.00219649	0.0011	0.0124	0.0002	0	0	1.499e-05	0	0	0.0009832	152	154602	rs142226796	0.0004	0.0004	0.0004	0.0003	0.0135	0.0003	0.0003	0.0125	0.0121	0.0135	0.0005	7.652e-05	0	0	0.0005	8.993e-06	0.0009	1.159e-05	0.0032	0.0032	0.0036	0.0029	0.0115	0.0030	0.0029	0.0106	0.0103	0.0115	0	0.0006	0	0	0	0	1.47e-05	0.0028	0	0.013	0.53900	D	0.074	0.42976	T	0.982	0.60036	D	0.832	0.59730	P	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.32	0.16640	T	-1.46	0.35792	N	0.21	0.23380	-0.9984	0.30367	T	0.021	0.09101	T	9	0.004998088	0.00108	T	.	.	.	0.037	0.09474	0.243	0.17677	0.0482279557977	0.04254	0.0220780391853684	0.02159	0.141599937095	0.15959	.	.	.	0.019531	0.15543	T	-0.665643	0.00058	T	-0.717896	0.04899	T	0.0200777280573402	0.00708	T	0.422958	0.11265	T	0.14939258	0.34061	0.106470466	0.25614	0.14939258	0.34060	0.106470466	0.25614	-5.078	0.37674	T	.	.	0.143	0.31482	B	.	.	1.746831	0.22223	15.53	0.99494416912403316	0.67630	0.15555	0.18969	N	AEFBCI	0.119962	0.23390	N	-0.492199436518495	0.22336	1.191937	-0.67771718702289	0.17519	0.931866	0.0110491733723774	0.12122	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.85	0.263	0.14858	-0.119000	0.10649	0.111000	0.14782	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.6475:0.0:0.3525	9.940	0.40745	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2187.43	201	chr1	74571882	.	C	G	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.716;DP=877;ExcessHet=0;FS=11.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.637;SOR=1.285	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	9	0	1	0
chr1	74714632	74714632	T	G	splicing	CRYZ	NM_001889:exon5:c.429-2A>C;NM_001134759:exon3:c.18-2A>C;NM_001130043:exon5:c.429-2A>C;NM_001130042:exon6:c.429-2A>C	.	.	.	424	1096	2	0	0	2	0.000911577	0.9999	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.476e-05	0	0	0	0	4.503e-05	0	0	1.94e-05	3	154602	rs143597042	2.053e-06	2.052e-06	2.724e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213965	0.75204	D	0.133215	0.79103	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.834316	0.78857	27.0	0.99485679326044751	0.67124	0.98514	0.83591	D	AEFDGBHCI	.	.	.	1.03886609234376	0.96819	15.18799	0.875461787459055	0.94412	12.74069	0.99999999999874	0.74766	0.164513	0.03853	0	0.093163	0.02533	0	0.183335	0.04453	0	0.109871	0.03346	0	0.964009	0.67528	5.71	5.71	0.89031	6.933000	0.75689	7.789000	0.68848	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.0:0.0:1.0	15.640	0.76750	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1338.43	43	chr1	74714632	.	T	G	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.38;DP=428;ExcessHet=0;FS=0.808;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.499;SOR=0.625	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1236	9	0	1	0
chr1	75728443	75728443	A	G	exonic	ACADM	.	nonsynonymous SNV	ACADM:NM_000016:exon2:c.A73G:p.T25A,ACADM:NM_001127328:exon2:c.A85G:p.T29A,ACADM:NM_001286043:exon2:c.A73G:p.T25A	Acyl-CoA dehydrogenase, medium chain, deficiency of, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0904751449671	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.19225	T	0.52	0.18789	T	0.001	0.07471	B	0.001	0.04355	B	0.002787	0.35935	N	0.267587	1	0.81001	D	0.895	0.22405	L	-4.32	0.97267	D	-1.48	0.36189	N	0.498	0.54584	-0.0973	0.80160	T	0.579	0.84831	D	10	0.23983172	0.41130	T	0.090475	0.75526	D	0.424	0.73226	0.224	0.14813	0.87496722109	0.87374	0.4380577905867984	0.43722	0.18191146158	0.20451	0.414616405964	0.27095	T	0.462412	0.79878	T	0.147706	0.69053	D	-0.0256066	0.68660	D	0.322697758674622	0.25931	T	0.617538	0.23835	T	0.044340022	0.07070	0.05143414	0.08275	0.044340022	0.07070	0.05143414	0.08274	-4.437	0.30055	T	.	.	0.064	0.05145	B	.;.;.	.;.;.	2.405391	0.30907	18.58	0.94935580446929924	0.25824	0.81605	0.40975	D	AEFGBI	0.673238	0.63936	D	-0.376038653303992	0.26326	1.435891	-0.179927010198185	0.32276	1.834617	0.99999687909066	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.35	4.2	0.48814	2.866000	0.48119	6.635000	0.56164	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.8521:0.0:0.0:0.1479	10.232	0.42437	765	0.49814	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	971.43	34	chr1	75728443	.	A	G	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=433;ExcessHet=0;FS=1.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.56;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,925	9	0	1	0
chr1	76868678	76868678	A	G	exonic	ST6GALNAC5	.	nonsynonymous SNV	ST6GALNAC5:NM_001320273:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_001320274:exon2:c.A197G:p.Q66R,ST6GALNAC5:NM_030965:exon2:c.A197G:p.Q66R	.	376	1129	16	1	0	18	0.00790861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0005	0.00219649	0.0050	0.0007	0.0027	0	0	0.0018	0	0.0111	0.0013971	216	154602	rs143010807	0.0016	0.0016	0.0013	0.0018	0.0208	0.0015	0.0015	0.0178	0.0166	0.0011	0.0019	0.0009	5.453e-05	0.0001	0.0208	0.0011	0.0021	0.0088	0.0015	0.0015	0.0014	0.0016	0.0098	0.0013	0.0013	0.0075	0.0068	0.0003	0	0.0023	0.0014	0.0002	0.0002	0.0171	0.0017	0.0024	0.0098	0.818	0.02974	T	0.592	0.08161	T	0.0	0.02946	B	0.001	0.04355	B	0.879119	0.07224	N	1.058050	0.999999	0.08975	N	0.69	0.16971	N	1.8	0.25344	T	-0.09	0.08340	N	0.072	0.04547	-0.9746	0.36213	T	0.017	0.06902	T	10	0.0040742457	0.00080	T	.	.	.	0.040	0.10527	.	.	0.0675242888579	0.06100	0.24362056139935523	0.24276	0.365251766803	0.38123	0.643308639526	0.59035	T	0.003651	0.03060	T	-0.709402	0.00032	T	-0.786375	0.02266	T	0.000591769945659934	0.00005	T	0.256074	0.03980	T	0.051826894	0.09575	0.068529576	0.14323	0.051826894	0.09575	0.068529576	0.14323	-3.171	0.12129	T	.	.	0.066	0.02285	B	.	.	1.920179	0.24388	16.38	0.5886146095808017	0.06090	0.23561	0.22116	N	AEFDBCIJ	0.114398	0.22533	N	-0.864118029501418	0.11704	0.5662958	-0.793534210565514	0.14654	0.7667593	0.999976067596103	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.37	2.33	0.27981	0.765000	0.26211	3.148000	0.36512	-0.260000	0.06918	0.339000	0.25666	0.999000	0.35428	0.897000	0.43391	0.5458:0.3315:0.1227:0.0	8.102	0.30022	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029474	0.005208	0.037088	0.071429	0.050000	0.045455	0.012346	0.015152	0.05	266.43	39	chr1	76868678	.	A	G	266.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.341;DP=318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=1.89;SOR=0.722	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,893	9	0	1	0
chr1	77521899	77521899	G	A	exonic	AK5	.	nonsynonymous SNV	AK5:NM_012093:exon12:c.G1306A:p.G436S,AK5:NM_174858:exon12:c.G1384A:p.G462S	.	.	.	.	.	.	.	.	.	.	.	3273149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.858	0.362026542618	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866311885	7.529e-06	8.209e-06	1.09e-05	4.128e-06	0.0003	4.04e-06	2.95e-06	6.098e-05	2.523e-05	0	2.246e-05	0	2.52e-05	0	0.0003	3.598e-06	3.314e-05	1.161e-05	4.601e-05	4.597e-05	2.569e-05	6.729e-05	0.0002	2.11e-05	1.527e-05	5.287e-05	2.835e-05	0	0	0.0002	0	0.0002	0	0	4.409e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.971	0.72444	D	0.000214	0.47681	D	0.080797	1	0.81001	D	3.885	0.96017	H	-1.88	0.84487	D	-4.37	0.77061	D	0.669	0.67908	0.800	0.94414	D	0.792	0.92966	D	10	0.92787874	0.92133	D	0.362027	0.92535	D	0.858	0.95655	0.8	0.91946	0.848803182647	0.84735	0.9252631224669388	0.92503	0.699216201544	0.61017	0.481403291225	0.36250	T	0.616421	0.87916	D	0.301115	0.83060	D	0.258	0.86018	D	0.997174382209778	0.90938	D	0.917608	0.70392	D	0.9033801	0.91687	0.84006304	0.90842	0.9033801	0.91688	0.84006304	0.90843	-11.131	0.80371	D	.	.	0.143	0.35372	B	.;.	.;.	4.958883	0.81980	27.7	0.99867623920440307	0.94547	0.97842	0.77538	D	AEFDBI	0.828609	0.74767	D	0.847755363253981	0.88980	9.787087	0.717365645725497	0.83699	8.090376	0.999719443896797	0.42101	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	3.85	0.43556	7.543000	0.81054	6.503000	0.55788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0862:0.0:0.9138:0.0	12.134	0.53267	644	0.63734	Adenylate kinase, conserved site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1568.43	33	chr1	77521899	.	G	A	1568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=438;ExcessHet=0;FS=3.214;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.923;SOR=0.442	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	9	0	1	0
chr1	77741401	77741401	C	T	exonic	USP33	.	nonsynonymous SNV	USP33:NM_001377431:exon3:c.G110A:p.G37E,USP33:NM_001377434:exon3:c.G110A:p.G37E,USP33:NM_001377435:exon3:c.G110A:p.G37E,USP33:NM_001377436:exon3:c.G110A:p.G37E,USP33:NM_001377437:exon3:c.G110A:p.G37E,USP33:NM_201624:exon3:c.G110A:p.G37E,USP33:NM_001377430:exon4:c.G203A:p.G68E,USP33:NM_001377432:exon4:c.G203A:p.G68E,USP33:NM_001377433:exon4:c.G203A:p.G68E,USP33:NM_015017:exon4:c.G203A:p.G68E,USP33:NM_201626:exon4:c.G203A:p.G68E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0203241325672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.01	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.45	0.71042	M	0.89	0.45636	T	-3.76	0.91353	D	0.391	0.46928	-0.9623	0.38742	T	0.156	0.48841	T	10	0.84443444	0.83606	D	0.020324	0.42890	T	0.391	0.70684	0.766	0.89373	0.625240302323	0.62219	0.8967375538010217	0.89644	1.95920376204	0.93432	0.828889548779	0.86393	D	0.177378	0.52765	T	0.257262	0.79276	D	0.131763	0.79007	D	0.997024714946747	0.90598	D	0.970303	0.89869	D	0.5803117	0.71625	0.5741674	0.75334	0.5803117	0.71627	0.5741674	0.75334	-11.862	0.84172	D	.	.	0.978	0.93507	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.194051	0.87119	29.1	0.99760784347232867	0.85011	0.98524	0.83701	D	AEFGBI	0.706107	0.66127	D	0.711212733275138	0.80369	7.27876	0.688655926290875	0.81517	7.545253	0.999792592724356	0.43153	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.08	4.16	0.48138	4.873000	0.62751	7.552000	0.60294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9184:0.0:0.0816	12.004	0.52543	773	0.48803	.;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;.;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;Zinc finger, UBP-type|Zinc finger, UBP-type|Zinc finger, UBP-type;Zinc finger, UBP-type|Zinc finger, UBP-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	33	chr1	77741401	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.692;DP=355;ExcessHet=0;FS=2.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-1.028;SOR=1.161	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1003	9	0	1	0
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K,NEXN:NM_144573:exon11:c.G1424A:p.R475K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	79.47	45	chr1	77935995	.	G	A	79.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.099;DP=276;ExcessHet=0;FS=20.836;InbreedingCoeff=-0.056;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=-0.956;SOR=4.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:40:.:.:0,40,451:.	9	0	1	0
chr1	78046276	78046276	C	T	exonic	GIPC2	.	nonsynonymous SNV	GIPC2:NM_017655:exon1:c.C182T:p.S61F	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	.	0.0005	0.0375399	0.0191	0.0010	0.0009	0.0888	0.0002	0.0007	0.0153	0.0791	0.0147993	2288	154602	rs17101180	0.0080	0.0080	0.0062	0.0099	0.1125	0.0079	0.0078	0.1097	0.1086	0.0006	0.0009	0.0044	0.1125	3.817e-05	0.0032	0.0002	0.0141	0.0688	0.0064	0.0065	0.0051	0.0079	0.0943	0.0061	0.0060	0.0874	0.0846	0.0012	0	0.0022	0.0029	0.0943	9.425e-05	0.0034	0.0002	0.0109	0.0752	0.001	0.78490	D	0.004	0.74150	D	0.61	0.39628	P	0.265	0.39681	B	0.034026	0.24822	N	0.426776	0.873566	0.35610	D	2.485	0.72352	M	-1.6	0.82165	D	-3.62	0.69593	D	0.074	0.04790	-0.0832	0.80482	T	0.387	0.74180	T	10	0.002834022	0.00045	T	.	.	.	0.332	0.65424	.	.	.	.	0.40153439069355695	0.40069	0.423830427067	0.42828	0.471358656883	0.34868	T	0.291844	0.66458	T	-0.407502	0.02065	T	-0.215847	0.53135	T	0.0482287549782519	0.05185	T	0.962704	0.86103	D	0.5242075	0.68500	0.44337794	0.67556	0.5242075	0.68501	0.44337794	0.67556	-7.978	0.60920	D	.	.	0.214	0.44253	B	.	.	3.941133	0.57670	23.9	0.99238152381201261	0.56437	0.84458	0.43540	D	AEFDBHCI	0.628365	0.61048	D	0.131085543399481	0.47916	3.010826	0.141253056345753	0.46680	2.910128	0.999999904777494	0.74766	0.685219	0.55550	0	0.491552	0.07993	0	0.674405	0.61402	0	0.375	0.06713	1	.	.	3.8	3.8	0.42887	0.639000	0.24378	2.526000	0.33144	0.522000	0.23927	0.223000	0.24568	0.180000	0.23413	0.950000	0.49671	0.0:0.7671:0.2329:0.0	12.157	0.53388	306	0.87689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008586	0.000000	0.000000	0.008772	0.000000	0.000000	0.012195	0.026515	0.05	825.43	33	chr1	78046276	.	C	T	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.208;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.077;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1035	9	0	1	0
chr1	78492766	78492766	A	T	exonic	PTGFR	.	nonsynonymous SNV	PTGFR:NM_000959:exon2:c.A23T:p.Q8L,PTGFR:NM_001039585:exon2:c.A23T:p.Q8L	.	432	1070	20	0	0	20	0.00925926	.	.	.	719090	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0041	0.00738818	0.0059	0.0006	0.0031	0.0013	0.0009	0.0046	0.0102	0.0224	0.0056079	867	154602	rs41292960	0.0051	0.0051	0.0046	0.0056	0.0191	0.0050	0.0050	0.0183	0.0180	0.0005	0.0042	0.0023	0.0025	0.0010	0.0158	0.0044	0.0057	0.0191	0.0041	0.0041	0.0038	0.0043	0.0205	0.0038	0.0037	0.0172	0.0160	0.0008	0	0.0067	0.0023	0.0017	0.0013	0.0170	0.0048	0.0090	0.0205	0.05	0.39575	D	0.164	0.45961	T	0.0	0.07471	B	0.0	0.08700	B	0.018422	0.27485	N	0.385314	0.622299	0.30769	N	1.1	0.28011	L	-2.53	0.89430	D	-1.34	0.33998	N	0.122	0.21969	-0.7105	0.59928	T	0.300	0.67166	T	10	0.003374815	0.00059	T	.	.	.	0.181	0.45247	.	.	0.419120893867	0.41530	0.47915917809288416	0.47835	0.209392805901	0.23407	0.331329494715	0.15136	T	0.170723	0.51857	T	-0.309677	0.07777	T	-0.20267	0.54392	T	0.0158607068693178	0.00372	T	0.659534	0.26859	T	0.096999705	0.22858	0.11808839	0.28506	0.096999705	0.22857	0.11808839	0.28505	-2.188	0.04441	T	.	.	0.080	0.07697	B	.;.;.	.;.;.	2.602499	0.33784	19.44	0.98998694768417228	0.50106	0.75837	0.37153	D	AEFBIJ	0.174670	0.30181	N	-0.189002705709389	0.33591	1.907492	-0.00394887460488699	0.39536	2.345695	0.999976573831492	0.50053	0.549168	0.22868	0	0.563428	0.19063	0	0.563428	0.18855	0	0.616125	0.45549	0	.	.	5.55	4.35	0.51454	3.044000	0.49520	6.687000	0.56329	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.6324:0.2477:0.0:0.1199	6.821	0.23038	280	0.88949	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.014946	0.008772	0.000000	0.000000	0.021341	0.011364	0.05	1347.43	39	chr1	78492766	.	A	T	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.812;DP=432;ExcessHet=0;FS=1.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.395;SOR=0.534	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1328	9	0	1	0
chr1	81990481	81990481	G	T	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3548T:p.G1183V,ADGRL2:NM_001297704:exon21:c.G3548T:p.G1183V,ADGRL2:NM_001330645:exon21:c.G3587T:p.G1196V,ADGRL2:NM_001366002:exon21:c.G3548T:p.G1183V,ADGRL2:NM_001350698:exon23:c.G3728T:p.G1243V,ADGRL2:NM_001366005:exon24:c.G3746T:p.G1249V,ADGRL2:NM_001366006:exon24:c.G3746T:p.G1249V,ADGRL2:NM_001366003:exon28:c.G3728T:p.G1243V,ADGRL2:NM_001366004:exon28:c.G3728T:p.G1243V	.	425	1055	42	0	0	42	0.0195167	.	.	.	3211183	ADGRL2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.362	.	0.0008	0.00259585	0.0021	9.61e-05	0.0005	0	0	0.0013	0.0055	0.0091	0.0018305	283	154602	rs143448377	0.0014	0.0014	0.0011	0.0016	0.0102	0.0013	0.0013	0.0083	0.0081	0.0001	0.0008	0.0030	2.519e-05	9.36e-05	0.0102	0.0008	0.0020	0.0088	0.0010	0.0010	0.0009	0.0011	0.0091	0.0009	0.0008	0.0070	0.0062	0.0002	0	0.0010	0.0012	0.0002	9.414e-05	0.0102	0.0010	0.0028	0.0091	0.001	0.78490	D	0.05	0.48594	T	0.995	0.67487	D	0.929	0.66367	D	0.000338	0.45700	D	0.187285	1	0.81001	D	.	.	.	-0.46	0.70597	T	-4.03	0.76740	D	0.684	0.70878	-0.8069	0.54736	T	0.191	0.54359	T	10	0.0074394643	0.00169	T	.	.	.	0.539	0.80723	.	.	0.082315109003	0.07666	0.4814075198055706	0.48060	0.567196384469	0.52991	0.55849480629	0.47055	T	0.067859	0.82202	T	-0.247787	0.14371	T	-0.122308	0.61613	T	0.141194857536656	0.16377	T	0.914708	0.73561	D	0.56956995	0.71037	0.5168769	0.72086	0.56956995	0.71038	0.5168769	0.72087	-3.675	0.22542	T	.	.	0.162	0.37633	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.611038	0.51059	23.0	0.99109637766004166	0.52699	0.92818	0.56620	D	AEFGBCI	0.951242	0.96562	D	0.221703935337338	0.52252	3.400531	0.261948915020974	0.53333	3.502685	0.999349580085339	0.39222	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	4.6	0.56512	7.460000	0.79850	8.639000	0.77885	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.1392:0.8607:0.0	16.018	0.80255	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.006793	0.014620	0.050000	0.017241	0.015244	0.011364	0.1	3669.14	33	chr1	81990481	.	G	T	3669.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.601;DP=623;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.71;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	8	0	2	0
chr1	81990583	81990583	G	A	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.G3650A:p.R1217Q,ADGRL2:NM_001297704:exon21:c.G3650A:p.R1217Q,ADGRL2:NM_001330645:exon21:c.G3689A:p.R1230Q,ADGRL2:NM_001366002:exon21:c.G3650A:p.R1217Q,ADGRL2:NM_001350698:exon23:c.G3830A:p.R1277Q,ADGRL2:NM_001366005:exon24:c.G3848A:p.R1283Q,ADGRL2:NM_001366006:exon24:c.G3848A:p.R1283Q,ADGRL2:NM_001366003:exon28:c.G3830A:p.R1277Q,ADGRL2:NM_001366004:exon28:c.G3830A:p.R1277Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.168777901214	.	.	2.473e-05	0	8.655e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs760725709	3.01e-05	3.01e-05	3.267e-05	2.75e-05	6.708e-05	2.282e-05	2.032e-05	2.116e-05	1.862e-05	5.974e-05	6.708e-05	0	2.519e-05	0	0	2.968e-05	3.312e-05	3.478e-05	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000024	0.55875	D	0.067473	0.999984	0.81001	D	.	.	.	-0.81	0.75789	T	-2.41	0.54059	N	0.701	0.77319	0.086	0.83919	D	0.487	0.80476	T	10	0.43535274	0.57757	T	0.168778	0.84678	D	0.580	0.83081	0.683	0.82078	0.322284741503	0.31843	0.6662609490396535	0.66564	0.570300441152	0.53190	0.638867974281	0.58403	T	0.085222	0.75553	T	-0.0213883	0.48656	T	-0.0869714	0.64389	T	0.487673619112053	0.32178	T	0.99518	0.98360	D	0.39867127	0.60640	0.39794812	0.64397	0.39867127	0.60641	0.39794812	0.64397	-3.571	0.18277	T	.	.	0.211	0.56560	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.029575	0.83645	28.1	0.9993200393897701	0.99439	0.93735	0.59041	D	AEFGBCI	0.944275	0.95115	D	0.568524904709652	0.71218	5.617405	0.561871206693233	0.72228	5.776728	0.999957633456103	0.48110	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	4.86	0.62624	7.760000	0.84095	11.936000	0.99985	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.8655:0.1345	16.166	0.81568	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2397.43	33	chr1	81990583	.	G	A	2397.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.8;DP=707;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.38;SOR=0.75	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr1	81990915	81990915	C	G	exonic	ADGRL2	.	nonsynonymous SNV	ADGRL2:NM_012302:exon20:c.C3982G:p.P1328A,ADGRL2:NM_001297704:exon21:c.C3982G:p.P1328A,ADGRL2:NM_001330645:exon21:c.C4021G:p.P1341A,ADGRL2:NM_001366002:exon21:c.C3982G:p.P1328A,ADGRL2:NM_001350698:exon23:c.C4162G:p.P1388A,ADGRL2:NM_001366005:exon24:c.C4180G:p.P1394A,ADGRL2:NM_001366006:exon24:c.C4180G:p.P1394A,ADGRL2:NM_001366003:exon28:c.C4162G:p.P1388A,ADGRL2:NM_001366004:exon28:c.C4162G:p.P1388A	.	438	1046	37	1	0	39	0.0183013	.	.	.	3210903	ADGRL2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0008	0.00239617	0.0018	9.617e-05	0.0005	0	0	0.0012	0.0055	0.0076	0.0016171	250	154602	rs142267708	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0072	0.0070	0.0001	0.0008	0.0030	0	9.361e-05	0.0087	0.0008	0.0019	0.0077	0.0009	0.0009	0.0008	0.0009	0.0077	0.0008	0.0007	0.0057	0.0051	0.0002	0	0.0009	0.0012	0.0002	9.407e-05	0.0102	0.0009	0.0024	0.0077	0.375	0.18061	T	0.206	0.27056	T	0.128	0.27003	B	0.075	0.28327	B	0.159877	0.17697	N	0.561955	1	0.81001	D	.	.	.	-0.42	0.70717	T	-2.27	0.50666	N	0.302	0.34120	-0.9602	0.39143	T	0.114	0.40650	T	10	0.0053347647	0.00117	T	.	.	.	0.112	0.31546	.	.	0.082315109003	0.07666	0.4140615702400013	0.41322	0.11031533871	0.12446	0.379887998104	0.22241	T	0.056903	0.80086	T	-0.416679	0.01797	T	-0.366741	0.37271	T	0.0454788217630323	0.04690	T	0.911709	0.69400	D	0.048075262	0.08320	0.07846932	0.17579	0.048075262	0.08320	0.07846932	0.17578	-4.424	0.32472	T	.	.	0.079	0.11461	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.688237	0.21508	15.23	0.84900520384378553	0.15565	0.43642	0.27143	N	AEFBCI	0.589979	0.58665	D	0.00965783698767059	0.42293	2.545568	-0.00654706581580577	0.39417	2.336899	0.999451034309693	0.39788	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	4.688000	0.61403	4.927000	0.46095	0.599000	0.40250	0.296000	0.25288	0.578000	0.25607	0.855000	0.40485	0.0:1.0:0.0:0.0	18.884	0.92338	963	0.08280	GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal;.;.;GPCR, family 2, latrophilin, C-terminal;.;.;.;GPCR, family 2, latrophilin, C-terminal;GPCR, family 2, latrophilin, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.006793	0.011696	0.050000	0.017241	0.009146	0.011364	0.1	3478.14	33	chr1	81990915	.	C	G	3478.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.88;DP=592;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.267;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	8	0	2	0
chr1	84144471	84144471	C	T	exonic	PRKACB	.	nonsynonymous SNV	PRKACB:NM_001300916:exon1:c.C110T:p.T37I,PRKACB:NM_182948:exon1:c.C110T:p.T37I	.	434	1082	5	1	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	7.7e-05	0.00259585	0.0013	0	8.639e-05	0	0	5.994e-05	0.0044	0.0090	0.0011255	174	154602	rs369346119	0.0006	0.0006	0.0004	0.0009	0.0091	0.0006	0.0006	0.0086	0.0084	0	4.515e-05	0	2.529e-05	0	0.0005	6.479e-05	0.0007	0.0091	0.0004	0.0004	0.0002	0.0005	0.0093	0.0003	0.0003	0.0072	0.0064	4.812e-05	0	0.0001	0	0	0	0	5.883e-05	0.0009	0.0093	0.058	0.37750	T	0.242	0.24264	T	0.13	0.27095	B	0.051	0.25434	B	0.115585	0.19228	N	0.561549	0.998107	0.44513	D	.	.	.	-0.27	0.67367	T	-0.43	0.14390	N	0.321	0.36148	-1.0349	0.18888	T	0.071	0.28969	T	10	0.003213942	0.00055	T	.	.	.	0.037	0.09474	.	.	0.47083157667	0.46712	0.2539837330481664	0.25312	0.913198446343	0.71136	0.31208562851	0.12222	T	.	.	.	-0.449062	0.01144	T	-0.412273	0.31963	T	0.0266153485007175	0.01490	T	0.726327	0.34071	T	.	.	.	.	.	.	.	.	-4.252	0.27499	T	.	.	0.072	0.04238	B	.	.	1.988880	0.25265	16.70	0.99474924919303975	0.66525	0.16854	0.19579	N	ALL	0.096939	0.19561	N	-0.418171231056342	0.24833	1.343643	-0.25445033708138	0.29618	1.660824	0.999999996097718	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.573888	0.23631	0	0.56214	0.19341	0	.	.	5.56	4.65	0.57626	1.544000	0.35764	2.712000	0.34244	-0.177000	0.10537	0.120000	0.23175	0.035000	0.21413	0.985000	0.61073	0.0:0.7899:0.1377:0.0724	11.059	0.47153	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1421.43	33	chr1	84144471	.	C	T	1421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=432;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.443;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	9	0	1	0
chr1	84414641	84414641	A	C	exonic	DNASE2B	.	nonsynonymous SNV	DNASE2B:NM_058248:exon4:c.A235C:p.N79H,DNASE2B:NM_021233:exon6:c.A859C:p.N287H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0393029055031	.	.	8.25e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs766038489	5.473e-06	5.472e-06	6.806e-06	4.125e-06	1.159e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.405	0.91733	M	2.4	0.15608	T	-4.46	0.78891	D	0.941	0.94904	-0.7618	0.57307	T	0.128	0.43666	T	10	0.96709734	0.96215	D	0.039303	0.58733	D	0.527	0.80007	0.85	0.95202	0.747807528701	0.74553	0.7214464417065364	0.72088	0.439334003021	0.43960	0.573755383492	0.49208	T	0.325	0.69539	T	-0.0981367	0.36733	T	-0.281889	0.46610	T	0.985913097858429	0.76772	D	0.840116	0.51512	T	0.9117735	0.92460	0.8580931	0.92050	0.9117735	0.92461	0.8580931	0.92050	-5.772	0.44330	T	.	.	0.444	0.61927	A	.;.	.;.	4.377972	0.67463	25.1	0.99699736739534539	0.80522	0.98950	0.89059	D	AEFBI	0.914523	0.87801	D	0.925805053674758	0.92965	11.73736	0.855725473849936	0.93346	11.98225	0.999956065129009	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.631631	0.49550	0	.	.	5.28	5.28	0.74118	8.361000	0.89995	10.854000	0.83952	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	15.361	0.74183	513	0.74941	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1433.43	35	chr1	84414641	.	A	C	1433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.88;DP=420;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.209;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	9	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	358.95	87	chr1	85158755	.	A	G	358.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.747;DP=688;ExcessHet=0.7463;FS=75.313;InbreedingCoeff=-0.2081;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=0.195;SOR=8.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,11:52:99:1|0:85158731_C_CA:144,0,1335:85158731	7	0	3	0
chr1	85158757	85158757	C	T	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578A:p.S1193N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0109281839246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.081	0.41742	T	0.958	0.54977	D	0.477	0.46994	P	0.000003	0.62929	D	0.141141	0.841424	0.28625	N	2.89	0.83701	M	3.01	0.09075	T	-1.36	0.33798	N	0.206	0.22870	-1.0896	0.05599	T	0.013	0.05273	T	10	0.1897026	0.34581	T	0.010928	0.28020	T	0.125	0.34456	0.093	0.01151	0.236890367714	0.23314	0.17515521952640145	0.17434	0.264699697906	0.29017	0.548633217812	0.45665	T	0.019491	0.15519	T	-0.177965	0.24039	T	-0.493411	0.23033	T	0.97476464509964	0.70646	D	0.379762	0.09155	T	0.4281341	0.62630	0.3544614	0.60990	0.4281341	0.62630	0.3544614	0.60990	-4.729	0.33754	T	.	.	0.092	0.13783	B	.	.	2.612422	0.33929	19.48	0.99246127042489396	0.56727	0.95586	0.65314	D	AEFGBI	0.675178	0.64065	D	0.296660874281403	0.55980	3.76211	0.369003311841199	0.59662	4.145805	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1448.14	72	chr1	85158757	.	C	T	1448.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,11:52:99:1|0:85158731_C_CA:144,0,1335:85158731	8	0	2	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1448.14	72	chr1	85158757	.	C	G	1448.14	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:41,0:52:99:1|0:85158731_C_CA:144,265,1632:85158731	3	0	7	0
chr1	85730622	85730622	A	G	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_001349955:exon60:c.T2969C:p.I990T,COL24A1:NM_152890:exon60:c.T5069C:p.I1690T	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0009	0.00119808	0.0021	0	0.0003	0	0.0162	0.0015	0.0022	0.0022	0.0017788	275	154602	rs189025471	0.0015	0.0015	0.0014	0.0016	0.0023	0.0014	0.0014	0.0021	0.0020	0.0001	0.0002	0	0	0.0162	0.0005	0.0009	0.0014	0.0023	0.0017	0.0017	0.0012	0.0022	0.0019	0.0015	0.0015	0.0011	0.0010	2.405e-05	0	0.0003	0	0	0.0146	0	0.0013	0.0005	0.0019	0.102	0.30235	T	0.045	0.49390	D	0.006	0.13644	B	0.034	0.22546	B	0.001829	0.37892	N	0.000000	0.979951	0.25146	N	1.28	0.32218	L	-0.74	0.73205	T	-2.06	0.47175	N	0.109	0.09490	-0.9892	0.32803	T	0.114	0.40490	T	10	0.005934775	0.00133	T	.	.	.	0.079	0.23065	.	.	0.539251968656	0.53577	0.36120485589810514	0.36034	0.0436724569655	0.04704	0.369047820568	0.20696	T	0.086233	0.37679	T	-0.45802	0.01011	T	-0.433112	0.29582	T	0.0222092066859869	0.00933	T	0.456654	0.13107	T	0.057280067	0.11379	0.0721206	0.15522	0.057280067	0.11378	0.0721206	0.15521	-7.1	0.54760	T	.	.	0.056	0.00505	B	.	.	1.799983	0.22880	15.80	0.8314468362838997	0.14566	0.80909	0.40429	D	AEFBI	0.321263	0.42412	N	-0.408003121458458	0.25188	1.365493	-0.280666387387541	0.28735	1.604495	0.961502386616491	0.28559	0.693126	0.56070	0	0.659464	0.62310	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	3.3	0.36912	1.806000	0.38530	1.878000	0.29433	-0.045000	0.17359	0.708000	0.28703	0.929000	0.28499	0.879000	0.42020	0.8469:0.0:0.1531:0.0	8.855	0.34381	677	0.60274	Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal|Fibrillar collagen, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1207.43	34	chr1	85730622	.	A	G	1207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.123;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=2.72;SOR=0.695	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1093	9	0	1	0
chr1	86489017	86489017	A	G	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon8:c.A1204G:p.T402A	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0216330771167	0.0012	0.000798722	0.0015	0.0003	0.0009	0	0	0.0020	0.0022	0.0022	0.0014165	219	154602	rs138472865	0.0013	0.0013	0.0012	0.0015	0.0033	0.0013	0.0013	0.0022	0.0018	0.0002	0.0007	0.0148	0	0.0004	0.0033	0.0010	0.0019	0.0022	0.0010	0.0010	0.0009	0.0010	0.0029	0.0008	0.0008	0.0018	0.0014	9.62e-05	0	0.0003	0.0153	0	9.434e-05	0.0034	0.0010	0.0005	0.0029	0.302	0.14400	T	0.505	0.11004	T	0.955	0.54515	P	0.714	0.54635	P	0.002154	0.37138	N	0.269718	1	0.08975	N	2.28	0.64929	M	-0.18	0.65747	T	-2.26	0.50502	N	0.35	0.39659	-0.9777	0.35526	T	0.119	0.41778	T	10	0.012068808	0.00261	T	0.021633	0.44424	T	0.175	0.44197	.	.	0.633545781819	0.63054	0.5853350931980922	0.58463	0.349758134559	0.36824	0.358265161514	0.19133	T	0.034696	0.23426	T	-0.430367	0.01475	T	-0.396827	0.33754	T	0.0706591572256433	0.08744	T	0.647535	0.25853	T	0.25249124	0.48265	0.15313177	0.35997	0.25249124	0.48265	0.15313177	0.35996	-5.525	0.42101	T	.	.	0.087	0.11269	B	.;.	.;.	3.168620	0.42966	21.6	0.97089024586738559	0.32315	0.40016	0.26342	N	AEFBCI	0.151706	0.27624	N	-0.150724483928656	0.35204	2.019106	-0.205261017013835	0.31346	1.773141	0.15622048438188	0.17521	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.7	5.7	0.88690	3.185000	0.50635	9.288000	0.79769	0.756000	0.94297	0.639000	0.28076	1.000000	0.68203	0.158000	0.20581	0.7222:0.1417:0.0:0.1361	7.798	0.28324	746	0.52331	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.016304	0.002924	0.050000	0.017241	0.006098	0.015152	0.1	2130.14	34	chr1	86489017	.	A	G	2130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.151;DP=456;ExcessHet=0.2348;FS=5.225;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.501;SOR=0.474	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1023	8	0	2	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:157,124:281:99:.:.:4537,0,5897:.	1	5	4	0
chr1	89582688	89582691	CCCA	-	exonic	LRRC8B	.	frameshift deletion	LRRC8B:NM_001369817:exon5:c.38_41del:p.A13Gfs*7,LRRC8B:NM_001369819:exon6:c.38_41del:p.A13Gfs*7,LRRC8B:NM_001134476:exon7:c.38_41del:p.A13Gfs*7,LRRC8B:NM_015350:exon8:c.38_41del:p.A13Gfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	98.39	35	chr1	89582687	.	GCCCA	G	98.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=391;ExcessHet=0;FS=29.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.677;SOR=4.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,13:83:99:0|1:89582687_GCCCA_G:110,0,2645:89582687	9	0	1	0
chr1	89582689	89582689	C	0	exonic	LRRC8B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4355.93	35	chr1	89582689	.	C	*	4355.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=481;ExcessHet=0.0405;FS=0.555;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.496;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,13:83:99:1|0:89582687_GCCCA_G:2381,1922,2645:89582687	9	0	1	0
chr1	89582691	89582691	-	TTTG	exonic	LRRC8B	.	frameshift insertion	LRRC8B:NM_001369817:exon5:c.41_42insTTTG:p.Q14Hfs*51,LRRC8B:NM_001369819:exon6:c.41_42insTTTG:p.Q14Hfs*51,LRRC8B:NM_001134476:exon7:c.41_42insTTTG:p.Q14Hfs*51,LRRC8B:NM_015350:exon8:c.41_42insTTTG:p.Q14Hfs*51	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	98.39	35	chr1	89582691	.	A	ATTTG	98.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.992;DP=475;ExcessHet=0;FS=29.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.356;SOR=4.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,13:83:99:0|1:89582687_GCCCA_G:110,0,2645:89582687	9	0	1	0
chr1	92181416	92181416	C	T	exonic	BTBD8	.	stopgain	BTBD8:NM_015237:exon6:c.C2194T:p.R732X,BTBD8:NM_001376131:exon17:c.C3733T:p.R1245X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.717e-06	5.472e-06	7.05e-06	4.347e-06	0.0001	2.46e-06	1.78e-06	3.81e-05	2.257e-05	0	0.0001	0	0	0	0	2.781e-06	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000060	0.53742	D	0.169313	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58478	0.97200	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.124902	0.94616	34	0.99626952133364644	0.75776	0.83106	0.42252	D	AEFBI	0.311278	0.41706	N	0.284604695312993	0.55366	3.700878	0.105486272672471	0.44829	2.757123	6.42486347469596E-4	0.07527	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.06	1.11	0.19640	1.361000	0.33740	0.613000	0.20051	-0.554000	0.04884	0.998000	0.41325	0.372000	0.24573	0.492000	0.28837	0.6304:0.2458:0.1238:0.0	7.155	0.24807	736	0.53558	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1461.43	91	chr1	92181416	.	C	T	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.712;DP=636;ExcessHet=0;FS=1.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.507;SOR=0.624	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	92184133	92184133	C	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon7:c.C3643G:p.L1215V,BTBD8:NM_001376131:exon18:c.C5182G:p.L1728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0190780032136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	1.41e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999529	0.47407	D	.	.	.	.	.	.	.	.	.	.	.	-1.0856	0.06298	T	0.064	0.26385	T	10	0.3291154	0.50170	T	0.019078	0.41344	T	0.218	0.51265	0.252	0.19067	0.151104730317	0.14643	0.20956648700883299	0.20872	.	.	0.679211735725	0.64156	T	0.11897	0.44016	T	0.0119849	0.53297	T	-0.220561	0.52683	T	0.91614294052124	0.57345	D	0.916508	0.70155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.67276	A	.;.;.;.	.;.;.;.	3.542683	0.49765	22.8	0.99658142899018609	0.77757	0.95026	0.63168	D	AEFGBI	0.589776	0.58653	D	0.601594218466537	0.73274	5.939652	0.557650617828793	0.71931	5.730668	0.997342182401955	0.35520	0.554377	0.28877	0	0.486142	0.07564	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.58	4.62	0.56946	3.813000	0.55340	4.099000	0.41853	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.7926:0.0:0.2074	7.677	0.27655	732	0.54084	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2187.43	42	chr1	92184133	.	C	G	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.478;DP=516;ExcessHet=0;FS=0.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.258;SOR=0.627	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1033	9	0	1	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X,CCDC18:NM_001378204:exon21:c.T2936G:p.L979X,CCDC18:NM_206886:exon21:c.T2936G:p.L979X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	127.59	78	chr1	93239851	.	T	G	127.59	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.994;DP=404;ExcessHet=0;FS=226.191;InbreedingCoeff=-0.1826;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=-0.219;SOR=7.378	GT:AD:DP:GQ:PL	./.:31,0:31:0:0,0,593	2	0	1	7
chr1	94174207	94174207	C	T	exonic	ARHGAP29	.	nonsynonymous SNV	ARHGAP29:NM_001328665:exon22:c.G3256A:p.A1086T,ARHGAP29:NM_001328667:exon22:c.G3256A:p.A1086T,ARHGAP29:NM_001328664:exon23:c.G3448A:p.A1150T,ARHGAP29:NM_001328666:exon23:c.G3421A:p.A1141T,ARHGAP29:NM_004815:exon23:c.G3448A:p.A1150T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0055344069245	.	0.000199681	7.416e-05	0	0	0	0	0.0001	0	6.058e-05	7.12e-05	11	154602	rs149136237	6.362e-05	6.362e-05	5.173e-05	7.563e-05	0.0007	5.294e-05	4.911e-05	0.0003	0.0002	0	2.236e-05	7.652e-05	0	0	0.0007	4.586e-05	4.967e-05	0.0004	4.599e-05	4.593e-05	1.286e-05	8.062e-05	0.0002	2.109e-05	1.527e-05	1.973e-05	1.125e-05	2.407e-05	0	0	0	0	0	0.0034	5.883e-05	0	0.0002	0.269	0.16091	T	0.257	0.23231	T	0.011	0.15914	B	0.003	0.08700	B	0.434958	0.12701	N	0.646179	0.999949	0.19238	N	1.71	0.44315	L	1.9	0.23486	T	-0.22	0.10480	N	0.028	0.00618	-0.9983	0.30395	T	0.013	0.05321	T	10	0.023409218	0.00611	T	0.005534	0.14258	T	0.014	0.01968	.	.	0.147330786459	0.14319	0.21072314373547518	0.20988	0.136285349207	0.15377	0.334223479033	0.15570	T	0.024537	0.18521	T	-0.468263	0.00871	T	-0.650725	0.08903	T	0.026966856953142	0.01539	T	0.593841	0.21938	T	0.023769194	0.01146	0.043708596	0.05498	0.023769194	0.01146	0.043708596	0.05497	-3.197	0.12444	T	.	.	0.070	0.03301	B	.	.	0.501083	0.08699	5.474	0.85553971296442044	0.15965	0.13317	0.17787	N	AEFBCI	0.092139	0.18656	N	-1.1189487333142	0.06306	0.2899408	-1.09704822227857	0.07758	0.3786391	0.838522006717427	0.24823	0.67177	0.52595	0	0.627178	0.54094	0	0.653264	0.51672	0	0.711	0.71501	0	.	.	5.31	2.41	0.28644	-0.152000	0.10145	-2.739000	0.03412	-0.230000	0.07744	0.001000	0.13787	0.000000	0.08366	0.076000	0.17014	0.1313:0.5847:0.0:0.284	5.217	0.14668	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3125.43	172	chr1	94174207	.	C	T	3125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=539;ExcessHet=0;FS=2.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.317;SOR=0.576	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr1	99881109	99881109	A	G	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon15:c.A1933G:p.T645A,AGL:NM_000642:exon15:c.A1933G:p.T645A,AGL:NM_000643:exon15:c.A1933G:p.T645A,AGL:NM_000644:exon15:c.A1933G:p.T645A,AGL:NM_000646:exon15:c.A1885G:p.T629A	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	516123	Glycogen_storage_disease_type_III|not_provided	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0158302128751	.	.	4.947e-05	0	8.687e-05	0	0	7.497e-05	0	0	7.12e-05	11	154602	rs576969969	5.063e-05	5.062e-05	4.357e-05	5.776e-05	0.0004	4.126e-05	3.779e-05	0.0002	0.0002	0	0.0004	0.0002	0	0	0.0003	2.968e-05	0.0001	0.0001	5.258e-05	5.254e-05	3.855e-05	6.726e-05	0.0002	2.558e-05	1.83e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0003	0	0	0	4.41e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	0.000001	0.62929	D	0.098546	0.928607	0.27116	N	-2.735	0.00029	N	-1.69	0.82985	D	3.15	0.00121	N	0.406	0.44952	-0.9495	0.41058	T	0.045	0.19437	T	10	0.06758392	0.09438	T	0.01583	0.36777	T	0.222	0.51872	0.602	0.73346	0.717622369731	0.71514	0.41927865779125334	0.41843	0.0405049159976	0.04339	0.355544745922	0.18736	T	0.085475	0.37509	T	-0.298889	0.08764	T	-0.350954	0.39097	T	0.0457085811075749	0.04731	T	0.80112	0.46793	T	0.05034634	0.09082	0.05491873	0.09536	0.05034634	0.09081	0.05491873	0.09536	2.418	0.00035	T	0.06861885834221801	0.02506	0.056	0.00470	B	.;.;.;.;.	.;.;.;.;.	1.372198	0.17825	13.39	0.13762743206219819	0.00282	0.52448	0.29134	D	AEFBI	0.065726	0.12835	N	-0.838138258941096	0.12343	0.6010989	-0.569308984161782	0.20295	1.092799	4.63100418470655E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	4.555000	0.60477	4.634000	0.44128	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.220000	0.22462	0.7363:0.0:0.1366:0.1271	5.560	0.16421	856	0.34373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.05	669.43	47	chr1	99881109	.	A	G	669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=388;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.37;SOR=0.544	GT:AD:DP:GQ:PL	0/1:26,30:56:99:681,0,533	9	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1444.51	152	chr1	99884396	.	T	C	1444.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.239;DP=804;ExcessHet=2.8389;FS=173.721;InbreedingCoeff=-0.358;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=1.43;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:47:.:.:0,47,908:.	5	0	5	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1070.13	151	chr1	99884400	.	T	C	1070.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.868;DP=818;ExcessHet=2.8389;FS=160.887;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=1.64;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:36:.:.:0,36,858:.	5	0	5	0
chr1	100160474	100160474	C	T	exonic	LRRC39	.	nonsynonymous SNV	LRRC39:NM_001256387:exon3:c.G211A:p.E71K,LRRC39:NM_001256385:exon4:c.G211A:p.E71K,LRRC39:NM_001256386:exon4:c.G211A:p.E71K,LRRC39:NM_144620:exon4:c.G211A:p.E71K	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0636348000839	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221449458	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.26519	T	0.02	0.58613	D	0.998	0.73220	D	0.994	0.82059	D	0.000055	0.53742	D	0.000000	1	0.81001	D	1.59	0.40313	L	7.92	0.00327	T	-1.41	0.34795	N	0.772	0.77507	1.075	0.98725	D	0.001	0.00255	T	10	0.72701716	0.74042	D	0.063635	0.69028	D	0.321	0.64318	0.379	0.39482	0.661506781955	0.65867	0.4484688165803696	0.44764	0.313794435588	0.33667	0.689410150051	0.65621	T	0.029022	0.20890	T	-0.0169848	0.49282	T	-0.262174	0.48607	T	0.981681168079376	0.74053	D	0.926707	0.72990	D	0.27864414	0.50917	0.23696324	0.48982	0.27864414	0.50917	0.23696324	0.48981	-3.115	0.14245	T	.	.	0.25	0.52243	B	.;.;.;.	.;.;.;.	4.126993	0.61730	24.4	0.99913188027623856	0.98167	0.98047	0.79151	D	AEFBI	0.871021	0.79222	D	0.566884212103833	0.71118	5.602318	0.600398691944616	0.74970	6.228411	0.999999930185091	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.99	4.99	0.65942	7.152000	0.77009	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.645	0.91367	581	0.69614	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	797.43	35	chr1	100160474	.	C	T	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.799;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.123;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	9	0	1	0
chr1	103620563	103620563	G	A	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon5:c.G757A:p.G253S	.	486	1033	3	0	0	3	0.00144998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.271201252309	0.0002	.	0.0017	0.0002	8.767e-05	0	0.0002	0.0029	0.0022	0.0005	0.0002305	6	26028	rs142529431	0.0005	0.0021	0.0005	0.0005	0.0012	0.0005	0.0004	0.0005	0.0005	5.998e-05	0.0001	0.0011	0	0.0004	0.0012	0.0005	0.0004	0.0002	0.0008	0.0017	0.0010	0.0006	0.0014	0.0007	0.0006	0.0012	0.0011	0.0002	0	0.0001	0.0026	0	0.0006	0	0.0014	0	0.0002	0.012	0.54683	D	0.1	0.38742	T	0.902	0.49745	P	0.569	0.49832	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.93	0.84523	M	-4.71	0.98035	D	-4.84	0.81030	D	0.788	0.78451	1.028	0.97675	D	0.914	0.97157	D	10	0.38705865	0.54618	T	0.271201	0.89885	D	0.872	0.96170	.	.	0.953785314089	0.95329	0.5180351664296993	0.51726	3.21115196292	0.99499	0.702695846558	0.67534	T	0.711773	0.91784	D	-0.00969737	0.50309	T	0.118208	0.78117	D	0.500755786895752	0.32657	D	0.986501	0.95398	D	0.85266435	0.87533	0.8054428	0.88611	0.85266435	0.87534	0.8054428	0.88612	-11.647	0.83089	D	.	.	0.308	0.54868	B	.;.	.;.	5.221420	0.87634	29.3	0.99615060051095927	0.75052	0.97932	0.78226	D	AEFI	0.947153	0.95740	D	0.515687858728527	0.68018	5.159648	0.426984453647574	0.63251	4.555308	0.948775723305939	0.27815	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.96	2.96	0.33383	9.412000	0.96668	8.230000	0.76836	0.320000	0.19365	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:0.0:1.0:0.0	13.973	0.63768	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000610	0.000000	0.001377	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	257.43	35	chr1	103620563	.	G	A	257.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.071;DP=484;ExcessHet=0;FS=3.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.8;MQRankSum=2.72;QD=1.51;ReadPosRankSum=0.983;SOR=0.414	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	9	0	1	0
chr1	103620582	103620582	G	A	exonic	AMY2A	.	nonsynonymous SNV	AMY2A:NM_000699:exon5:c.G776A:p.S259N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0420078793477	.	.	2.942e-05	0	0	0	0	1.751e-05	0	0.0002	3.84e-05	1	26028	rs775695406	9.73e-06	2.062e-05	8.306e-06	1.117e-05	4.682e-05	5.65e-06	4.42e-06	1.593e-05	9.37e-06	3.01e-05	0	0	0	0	0	8.219e-06	0	4.682e-05	1.362e-05	1.983e-05	1.331e-05	1.394e-05	0.0002	2.26e-06	8.5e-07	.	.	0	0	0	0	0	0	0	1.528e-05	0	0.0002	0.095	0.31235	T	0.382	0.15890	T	0.358	0.33818	B	0.366	0.43381	B	0.185733	0.16981	N	0.638756	1	0.08975	N	1.27	0.32069	L	-4.86	0.98263	D	-1.35	0.33598	N	0.396	0.43706	0.673	0.92839	D	0.853	0.95111	D	10	0.30099422	0.47644	T	0.042008	0.60234	D	0.369	0.68844	0.358	0.36060	0.904549218002	0.90359	0.2172194502200928	0.21637	2.21200435668	0.95776	0.475389033556	0.35422	T	0.549	0.84684	D	0.0595312	0.59554	T	-0.152264	0.59042	T	0.537138521671295	0.33998	D	0.942906	0.78488	D	0.43687418	0.63200	0.24031447	0.49402	0.43687418	0.63201	0.24031447	0.49401	-7.546	0.57933	D	.	.	0.267	0.50781	B	.;.	.;.	3.265382	0.44675	22.0	0.97161620808618676	0.32634	0.20142	0.20930	N	AEFI	0.328007	0.42880	N	-0.314674808984962	0.28589	1.578198	-0.391367929160732	0.25253	1.387657	6.99757871862896E-5	0.04366	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.13	3.13	0.35090	3.827000	0.55445	6.294000	0.55403	0.320000	0.19365	0.323000	0.25529	0.999000	0.35428	0.072000	0.16771	0.0:0.0:0.7955:0.2045	9.886	0.40433	796	0.45353	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	197.43	35	chr1	103620582	.	G	A	197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.187;DP=485;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.53;MQRankSum=0.208;QD=1.23;ReadPosRankSum=-0.018;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	9	0	1	0
chr1	108934711	108934711	C	T	exonic	CLCC1	.	nonsynonymous SNV	CLCC1:NM_001278203:exon6:c.G1060A:p.G354R,CLCC1:NM_001278202:exon10:c.G1252A:p.G418R,CLCC1:NM_001377469:exon10:c.G1513A:p.G505R,CLCC1:NM_001048210:exon11:c.G1615A:p.G539R,CLCC1:NM_001377460:exon11:c.G1615A:p.G539R,CLCC1:NM_001377461:exon11:c.G1615A:p.G539R,CLCC1:NM_001377462:exon11:c.G1615A:p.G539R,CLCC1:NM_001377463:exon11:c.G1615A:p.G539R,CLCC1:NM_001377464:exon11:c.G1615A:p.G539R,CLCC1:NM_015127:exon11:c.G1465A:p.G489R,CLCC1:NM_001377458:exon12:c.G1615A:p.G539R,CLCC1:NM_001377459:exon12:c.G1615A:p.G539R,CLCC1:NM_001377465:exon12:c.G1615A:p.G539R,CLCC1:NM_001377466:exon12:c.G1615A:p.G539R,CLCC1:NM_001377467:exon12:c.G1615A:p.G539R,CLCC1:NM_001377468:exon12:c.G1615A:p.G539R,CLCC1:NM_001377470:exon12:c.G1324A:p.G442R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0101264820097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	0	4.126e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.037	0.51737	D	0.004	0.12183	B	0.004	0.11217	B	0.726119	0.06342	N	1.158390	1	0.08975	N	1.155	0.29575	L	0.46	0.56281	T	-1.43	0.35194	N	0.154	0.15888	-1.0286	0.20908	T	0.032	0.13635	T	10	0.12432578	0.23613	T	0.010126	0.26302	T	0.044	0.11924	0.632	0.76810	0.212008924253	0.20833	0.060338255716156725	0.05973	.	.	0.307236075401	0.11488	T	0.010443	0.09434	T	-0.242059	0.15088	T	-0.585477	0.14060	T	0.0899233116284713	0.11209	T	0.768923	0.39853	T	0.059903115	0.12228	0.04736129	0.06805	0.059903115	0.12228	0.04736129	0.06804	-4.481	0.31741	T	.	.	0.116	0.33664	B	.;.;.;.;.;.	.;.;.;.;.;.	1.133450	0.15202	11.67	0.90238710161639601	0.19511	0.04193	0.09698	N	AEFGBI	0.056662	0.10492	N	-1.22193882928207	0.04683	0.2118738	-1.22464186262697	0.05516	0.2630451	0.00668897266867782	0.11281	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	-0.0897	0.13003	0.150000	0.16082	0.472000	0.18721	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4751:0.2775:0.2475	5.128	0.14225	861	0.33516	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1129.43	85	chr1	108934711	.	C	T	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=422;ExcessHet=0;FS=1.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=2.09;SOR=0.922	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr1	109189129	109189129	C	T	exonic	ELAPOR1	.	nonsynonymous SNV	ELAPOR1:NM_001284353:exon3:c.C269T:p.T90M,ELAPOR1:NM_001267048:exon8:c.C1022T:p.T341M,ELAPOR1:NM_001284352:exon9:c.C977T:p.T326M,ELAPOR1:NM_020775:exon10:c.C1283T:p.T428M	.	.	.	.	.	.	.	.	.	.	.	4131933	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00637030867073	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970365265	1.095e-05	1.094e-05	9.529e-06	1.238e-05	0.0002	6.48e-06	5.24e-06	8.862e-05	6.428e-05	0	0.0002	0	0	0	0	5.396e-06	0	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.089	0.37118	T	0.115	0.36630	T	0.379	0.47190	B	0.105	0.32546	B	0.000716	0.42254	N	0.270150	0.714256	0.33550	D	1.52	0.38360	L	2.77	0.11407	T	-1.03	0.27052	N	0.213	0.23758	-0.9137	0.46390	T	0.008	0.02926	T	10	0.094215244	0.16736	T	0.00637	0.16754	T	0.042	0.11227	0.378	0.39319	0.221734844693	0.21761	0.5606580053653603	0.55992	0.204845354841	0.22904	0.263759672642	0.05346	T	0.04212	0.26081	T	-0.335573	0.05701	T	-0.522833	0.20008	T	0.417057663202286	0.29582	T	0.670533	0.27914	T	0.026877368	0.01803	0.076602995	0.16982	0.026877368	0.01803	0.076602995	0.16982	-5.539	0.51183	T	.	.	0.067	0.05890	B	.;.;.	.;.;.	1.247258	0.16435	12.54	0.9577584339761086	0.27791	0.15476	0.18930	N	AEFGBI	0.179243	0.30652	N	-0.487172936272917	0.22501	1.201877	-0.456171813073306	0.23374	1.274339	0.999678442744809	0.41644	0.446893	0.09132	0	0.563428	0.19063	0	0.467745	0.07146	0	0.613276	0.41899	0	.	.	5.12	2.27	0.27501	0.061000	0.14242	-1.030000	0.06551	-0.192000	0.09343	0.002000	0.15269	0.000000	0.08366	0.916000	0.45140	0.0:0.6747:0.0:0.3253	7.991	0.29403	663	0.61610	Tyrosine-protein kinase ephrin type A/B receptor-like;Tyrosine-protein kinase ephrin type A/B receptor-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2685.43	33	chr1	109189129	.	C	T	2685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.445;DP=539;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.175;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	9	0	1	0
chr1	109251497	109251497	G	C	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon1:c.G1418C:p.R473P	.	.	.	.	.	.	.	.	.	.	.	3798132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.392	0.0249482563292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.992752	0.41734	D	0.57	0.15267	N	4.65	0.01779	T	-4.85	0.81107	D	0.882	0.88027	-0.4922	0.68930	T	0.009	0.03183	T	9	0.8983073	0.89188	D	0.024948	0.47933	T	0.392	0.70764	0.618	0.75232	0.579960410888	0.57666	0.8783394655290764	0.87800	1.4404443071	0.85963	0.668531298637	0.62628	T	0.362915	0.72874	T	0.163834	0.70555	D	-0.00244044	0.70177	D	0.915475487709045	0.57252	D	0.976502	0.91818	D	0.72708285	0.79559	0.5992984	0.76725	0.72708285	0.79560	0.5992984	0.76726	-16.351	0.98240	D	0.6049259967677886	0.67214	0.930	0.84988	P	.	.	4.276878	0.65116	24.8	0.99181936154728245	0.54701	0.95638	0.65526	D	AEFDGBCI	0.937621	0.93565	D	0.395659730073271	0.61186	4.316391	0.325835940905676	0.57063	3.870854	0.999999999993742	0.74766	0.718356	0.82227	0	0.626922	0.53725	0	0.570548	0.19454	0	0.616125	0.45549	0	.	.	4.82	4.82	0.61641	10.003000	0.99689	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.0:1.0:0.0	18.163	0.89648	764	0.49969	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2952.43	251	chr1	109251497	.	G	C	2952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=605;ExcessHet=0;FS=0.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.414;SOR=0.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	9	0	1	0
chr1	109251971	109251971	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon1:c.C1892T:p.T631M	.	415	1101	6	0	0	6	0.00271739	.	.	.	731546	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.249	0.0084220510358	0.0033	0.00119808	0.0039	0.0013	0.0016	0.0001	0.0014	0.0061	0.0033	0.0015	0.0041655	644	154602	rs41279706	0.0053	0.0053	0.0054	0.0052	0.0064	0.0052	0.0052	0.0062	0.0062	0.0008	0.0024	0.0001	7.557e-05	0.0019	0.0040	0.0064	0.0050	0.0017	0.0034	0.0034	0.0035	0.0033	0.0057	0.0032	0.0031	0.0053	0.0051	0.0011	0	0.0029	0	0.0004	0.0021	0	0.0057	0.0028	0.0012	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999927	0.51308	D	2.295	0.65404	M	4.08	0.03003	T	-4.15	0.75297	D	0.798	0.79406	-1.1757	0.00437	T	0.029	0.12453	T	9	0.023953468	0.00643	T	0.008422	0.22282	T	0.249	0.55752	.	.	0.526083527127	0.52256	0.444074245375542	0.44325	1.21388553281	0.80903	0.695509850979	0.66496	T	0.414316	0.76791	T	-0.263966	0.12439	T	-0.143984	0.59770	T	0.0311747803452138	0.02174	T	0.872813	0.58002	D	0.33937046	0.56229	0.34981853	0.60601	0.33937046	0.56229	0.34981853	0.60601	-9.774	0.72547	D	0.2583078757250682	0.34901	0.085	0.10400	B	.	.	5.225226	0.87703	29.3	0.99883443126596039	0.95892	0.88632	0.48651	D	AEFBCI	0.476490	0.51988	N	0.739437953857987	0.82215	7.708061	0.696107921546824	0.82082	7.680004	0.99999999896488	0.74766	0.736574	0.97449	0	0.626922	0.53725	0	0.732669	0.93749	0	0.616125	0.45549	0	.	.	4.95	4.95	0.64894	3.381000	0.52188	4.105000	0.41886	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:0.8625:0.1375:0.0	15.587	0.76240	764	0.49969	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	3738.43	172	chr1	109251971	.	C	T	3738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.05;DP=1837;ExcessHet=0;FS=0.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.103;SOR=0.729	GT:AD:DP:GQ:PL	0/0:194,0:194:99:0,120,1800	9	0	1	0
chr1	109261233	109261233	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon3:c.C4150T:p.R1384C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807	0.263420497756	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286591349	5.474e-06	5.472e-06	4.085e-06	6.877e-06	2.519e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	2.519e-05	0	0	6.295e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	3.19	0.88972	M	-1.31	0.79666	T	-6.74	0.92648	D	0.797	0.79310	0.586	0.91707	D	0.708	0.89947	D	9	0.8935499	0.88703	D	0.26342	0.89598	D	0.807	0.93738	0.626	0.76141	0.813029694999	0.81127	0.8270530484759968	0.82663	1.38724322197	0.84908	0.78561848402	0.79777	T	0.606744	0.87477	D	0.260175	0.79545	D	0.135947	0.79280	D	0.998726665973663	0.94977	D	0.996975	0.98834	D	0.56502247	0.70787	0.46344954	0.68853	0.56502247	0.70788	0.46344954	0.68853	-12.973	0.89252	D	0.7625660922923794	0.84425	0.868	0.80786	P	.	.	5.803324	0.93624	33	0.99946650814083626	0.99913	0.96307	0.68501	D	AEFDBCI	0.856016	0.77321	D	0.831004731247185	0.88001	9.417388	0.752227329716701	0.86324	8.85252	0.999999983947827	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.77	4.77	0.60425	5.936000	0.69869	4.935000	0.46163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.993	0.89096	785	0.46916	Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1665.43	33	chr1	109261233	.	C	T	1665.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=462;ExcessHet=0;FS=1.29;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.582;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	0	1	0
chr1	109267923	109267923	A	G	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon17:c.A6181G:p.N2061D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0122084112041	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894102886	2.056e-06	3.42e-06	1.364e-06	2.755e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	1.313e-05	1.313e-05	0	2.688e-05	0.0001	2.18e-06	8.2e-07	2.259e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.28	0.15509	T	0.275	0.22016	T	0.987	0.61912	D	0.929	0.66367	D	.	.	.	.	0.997109	0.43633	D	1.335	0.33326	L	2.95	0.09635	T	-1.82	0.42763	N	0.461	0.49783	-1.0648	0.10596	T	0.026	0.11353	T	9	0.3225911	0.49607	T	0.012208	0.30578	T	0.087	0.25287	0.314	0.28935	0.597789299623	0.59458	0.7934630304048191	0.79299	0.754964615035	0.63972	0.715742588043	0.69426	T	0.121805	0.44502	T	-0.203038	0.20368	T	-0.529426	0.19343	T	0.902167499065399	0.55506	D	0.829317	0.49436	T	0.11180729	0.26419	0.14239168	0.33876	0.11180729	0.26419	0.14239168	0.33875	-3.955	0.23128	T	0.5917808756049618	0.65858	0.311	0.53846	B	.	.	4.615629	0.73244	26.0	0.99062464252381899	0.51528	0.93431	0.58198	D	AEFDGBIJ	0.483214	0.52375	N	0.450707773379622	0.64242	4.674485	0.433783992577685	0.63681	4.606943	0.999999851818937	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	4.38	4.38	0.52019	5.717000	0.68096	9.289000	0.79777	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.9017:0.0:0.0983:0.0	8.774	0.33910	789	0.46346	GAIN domain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1225.43	33	chr1	109267923	.	A	G	1225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.863;DP=436;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.5;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	1445.29	96	chr1	109508616	.	G	C	1445.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.994;DP=840;ExcessHet=2.8389;FS=240.489;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.33;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,23:101:99:0|1:109508616_G_C:180,0,1906:109508616	2	0	5	3
chr1	109508617	109508617	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A296G:p.N99S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.00377047473703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	2.726e-06	1.377e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.023848	0.26367	N	0.283710	0.744098	0.29705	N	-1.225	0.00812	N	4.52	0.01997	T	0.92	0.01573	N	0.044	0.04072	-0.9142	0.46325	T	0.001	0.00318	T	10	0.027937263	0.00931	T	0.00377	0.08775	T	0.152	0.39956	0.237	0.16760	0.21174354426	0.20776	0.18114392568070153	0.18033	0.765883629124	0.64500	0.483428955078	0.36529	T	0.005866	0.05316	T	-0.395562	0.02475	T	-0.805974	0.01758	T	0.0602567331267085	0.07209	T	0.826617	0.49005	T	0.038544018	0.05153	0.047732275	0.06941	0.038544018	0.05153	0.047732275	0.06940	-0.373	0.00511	T	.	.	0.064	0.01884	B	.;.	.;.	1.840698	0.23383	16.00	0.57174240635056761	0.05711	0.18455	0.20267	N	AEFBCI	0.212306	0.33801	N	-0.740697034335553	0.14888	0.7454824	-0.519573181039383	0.21622	1.170563	0.989457814758624	0.31831	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	4.99	0.65942	-0.133000	0.10430	2.868000	0.35247	0.665000	0.62972	0.001000	0.13787	1.000000	0.68203	1.000000	0.97212	0.0:0.0899:0.1832:0.7269	5.179	0.14477	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	364.14	97	chr1	109508617	.	T	C	364.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.063;DP=649;ExcessHet=0.2348;FS=164.258;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.17;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:98,9:107:40:0|1:109508616_G_C:0,40,3857:109508616	8	0	2	0
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	214.45	96	chr1	109508618	.	T	C	214.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.512;DP=634;ExcessHet=0.7463;FS=90.79;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.12;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:99,9:108:43:0|1:109508616_G_C:0,43,3881:109508616	7	0	3	0
chr1	109608722	109608722	C	T	exonic	GNAT2	.	nonsynonymous SNV	GNAT2:NM_005272:exon4:c.G370A:p.V124M,GNAT2:NM_001377295:exon5:c.G370A:p.V124M,GNAT2:NM_001379232:exon5:c.G370A:p.V124M	Achromatopsia 4	0	1512	9	1	0	11	0.00362438	.	.	.	194412	GNAT2-related_disorder|Retinal_dystrophy|not_specified|not_provided|Achromatopsia_4	.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013465,MedGen:C1841721,OMIM:613856,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.335	0.0446554630595	0.0045	0.00259585	0.0054	0.0009	0.0021	0	0.0032	0.0075	0.0066	0.0061	0.0055821	863	154602	rs41280330	0.0069	0.0069	0.0070	0.0069	0.0079	0.0068	0.0068	0.0077	0.0077	0.0010	0.0022	0.0036	0	0.0042	0.0059	0.0079	0.0067	0.0061	0.0044	0.0044	0.0045	0.0043	0.0075	0.0041	0.0040	0.0065	0.0063	0.0012	0	0.0032	0.0020	0.0004	0.0030	0	0.0071	0.0043	0.0075	0.046	0.40573	D	0.065	0.44702	T	0.99	0.63424	D	0.738	0.55619	P	0.005516	0.32736	N	0.287924	0.868387	0.35516	D	1.63	0.41750	L	-2.43	0.88689	D	-0.41	0.14000	N	0.426	0.46555	0.530	0.90961	D	0.714	0.90196	D	10	0.008829892	0.00200	T	0.044655	0.61597	D	0.335	0.65718	.	.	0.921974883161	0.92118	0.8104456628994533	0.80999	0.354423072536	0.37217	0.497574865818	0.38490	T	0.423673	0.77435	T	-0.23169	0.16426	T	-0.096188	0.63691	T	0.0494856905650249	0.05409	T	0.973003	0.90263	D	0.19789441	0.41672	0.24691439	0.50211	0.18797	0.40274	0.24691439	0.50210	-5.791	0.44496	T	0.2074948243035606	0.27734	0.243	0.47697	B	.	.	4.155617	0.62368	24.4	0.99895602382781312	0.96895	0.91798	0.54285	D	AEFBI	0.437475	0.49726	N	0.562450296784154	0.70845	5.56152	0.525014713537541	0.69678	5.394781	0.99998920776304	0.51787	0.421363	0.06395	0	0.550933	0.16991	0	0.491513	0.07944	0	0.664235	0.64389	0	.	.	4.69	4.69	0.58546	2.020000	0.40630	7.667000	0.64568	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	17.774	0.88411	851	0.35303	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.003788	0.05	2435.43	33	chr1	109608722	.	C	T	2435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=536;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.169;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	9	0	1	0
chr1	109621124	109621124	C	G	exonic	AMPD2	.	nonsynonymous SNV	AMPD2:NM_001308170:exon1:c.C17G:p.A6G	Pontocerebellar hypoplasia, type 9, Autosomal recessive	411	1102	8	1	0	10	0.00451671	.	.	.	690324	Hereditary_spastic_paraplegia_63|Pontocerebellar_hypoplasia_type_9|not_provided	MONDO:MONDO:0014305,MedGen:C3810295,OMIM:615686,Orphanet:401805|MONDO:MONDO:0014351,MedGen:C4014354,OMIM:615809,Orphanet:369920|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	0.647434471807	.	0.000798722	0.0012	0	0.0003	0	0	8.212e-05	0	0.0060	0.0006533	101	154602	rs570541266	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	2.29e-05	0	5.154e-05	0	0.0004	3.349e-05	0.0004	0.0050	0.0002	0.0002	0.0001	0.0002	0.0044	0.0001	9.7e-05	0.0029	0.0025	0	0	0	0	0	0	0	5.882e-05	0	0.0044	0.974	0.02034	T	0.568	0.08870	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999541	0.47497	D	.	.	.	-2.03	0.85613	D	-0.16	0.09460	N	0.279	0.31590	-1.0043	0.28666	T	0.102	0.37694	T	7	0.005859673	0.00131	T	0.647434	0.97009	D	0.157	0.40909	0.148	0.05138	0.658416286431	0.65555	.	.	.	.	.	.	.	.	.	.	-0.23072	0.16555	T	-0.102547	0.63201	T	0.0155271133238361	0.00352	T	0.49655	0.15423	T	.	.	.	.	.	.	.	.	-3.355	0.14457	T	.	.	0.080	0.07937	B	.	.	2.123303	0.27030	17.32	0.82919572938239627	0.14445	0.07285	0.13308	N	ALL	0.022525	0.01136	N	-0.310894542526896	0.28732	1.58731	-0.372469697760626	0.25820	1.422366	0.999999999999989	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	3.81	0.29	0.14978	-0.115000	0.10713	0.424000	0.18252	0.549000	0.26987	0.001000	0.13787	0.997000	0.33255	0.984000	0.60418	0.0:0.416:0.4695:0.1145	6.662	0.22211	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	814.43	33	chr1	109621124	.	C	G	814.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.229;DP=369;ExcessHet=0;FS=5.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=1.02;SOR=0.214	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1019	9	0	1	0
chr1	109627849	109627849	G	C	exonic	AMPD2	.	nonsynonymous SNV	AMPD2:NM_001308170:exon8:c.G963C:p.K321N,AMPD2:NM_001257361:exon9:c.G834C:p.K278N,AMPD2:NM_004037:exon9:c.G1026C:p.K342N,AMPD2:NM_139156:exon9:c.G945C:p.K315N,AMPD2:NM_001368809:exon10:c.G1026C:p.K342N	Pontocerebellar hypoplasia, type 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0706078502779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.34800	T	0.309	0.25362	T	0.641	0.90584	P	0.115	0.83170	B	0.000000	0.84330	N	0.047275	0.99499	0.42500	D	2.565	0.75005	M	-2.82	0.91192	D	-1.63	0.45404	N	0.714	0.74918	-0.0395	0.81428	T	0.598	0.85683	D	10	0.5678679	0.65153	D	0.070608	0.71049	D	0.271	0.58633	0.378	0.39319	0.834945890135	0.83337	0.9538939982333966	0.95373	1.81151216937	0.91805	0.880734622478	0.94059	D	0.416881	0.76970	T	0.031518	0.55925	T	-0.192503	0.55355	T	0.812048256397247	0.47193	D	0.935206	0.75689	D	0.18367572	0.39646	0.14593779	0.34593	0.18367572	0.39646	0.14593779	0.34592	-9.592	0.74091	D	.	.	0.818	0.78867	P	.;.;.;.;.;.	.;.;.;.;.;.	3.532749	0.49572	22.8	0.9976603430194787	0.85500	0.97658	0.76213	D	AEFBI	0.634860	0.61458	D	-0.117967397880545	0.36610	2.118501	-0.0657441383265564	0.36815	2.147465	0.788411208204607	0.23971	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	1.28	0.20656	2.065000	0.41068	1.273000	0.25303	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2942:0.0:0.5674:0.1384	5.095	0.14065	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	165.4	37	chr1	109627849	.	G	C	165.4	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.212;DP=727;ExcessHet=0.2348;FS=133.571;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=2.18;SOR=8.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:78,0:93:99:0|1:109627849_G_T:0,230,2327:109627849	8	0	1	1
chr1	109689279	109689279	T	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.T314C:p.M105T,GSTM1:NM_146421:exon5:c.T314C:p.M105T	.	982	537	0	3	0	6	0.00555556	.	.	.	695968	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	0.00678492829244	.	.	3.588e-05	0	0	0	0	0	0.0049	0	5.17e-05	8	154602	rs202002774	5.605e-06	0.0016	5.601e-06	5.609e-06	3.859e-05	1.31e-06	8.9e-07	6.4e-06	2.39e-06	0	0	0	0	0	0	3.849e-06	0	3.859e-05	3.734e-05	0.0034	2.426e-05	5.114e-05	0.0003	9.92e-06	4.75e-06	4.63e-05	1.915e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	0.057	0.39097	T	0.284	0.22084	T	0.773	0.44016	P	0.459	0.46380	P	0.000002	0.62929	U	0.055508	0.989061	0.81001	D	3.345	0.91022	M	4.54	0.03809	T	-5.25	0.84035	D	0.412	0.49146	-1.0963	0.04569	T	0.014	0.05465	T	10	0.3916999	0.54938	T	0.006785	0.17925	T	0.162	0.41843	.	.	0.221734844693	0.21761	0.5243859957062466	0.52362	1.16759706748	0.79672	0.455572098494	0.32704	T	0.314375	0.68606	T	-0.100377	0.36361	T	-0.381961	0.35493	T	0.258686060816388	0.23258	T	0.424358	0.12156	T	0.74832326	0.80771	0.5330875	0.73020	0.74832326	0.80772	0.5330875	0.73021	-6.657	0.62168	T	.	.	0.286	0.51840	B	.;.;.;.;.	.;.;.;.;.	1.642350	0.20957	14.99	0.69312899407550344	0.08932	0.77746	0.38263	D	AEFGBI	0.250440	0.37048	N	-0.312240552772623	0.28683	1.584075	-0.430811864685018	0.24098	1.317746	0.846920786302177	0.24971	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.02	0.25641	1.663000	0.37045	-0.229000	0.10694	0.660000	0.55035	1.000000	0.71638	0.001000	0.17328	0.021000	0.11733	0.0:0.1286:0.0:0.8714	6.059	0.19054	824	0.40336	Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	chr1:110231901	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	76.67	.	chr1	109689279	.	T	C	76.67	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=29.25;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	5	1	0	4
chr1	109689287	109689288	CA	-	exonic	GSTM1	.	frameshift deletion	GSTM1:NM_000561:exon5:c.322_323del:p.H108Yfs*13,GSTM1:NM_146421:exon5:c.322_323del:p.H108Yfs*13	.	988	531	0	3	0	6	0.00561798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183423000	2.809e-06	0.0005	0	5.622e-06	3.859e-06	4.7e-07	1.8e-07	6.4e-07	2.4e-07	0	0	0	0	0	0	3.859e-06	0	0	2.475e-05	0.0023	0	5.095e-05	0.0001	4.11e-06	1.54e-06	.	.	0	0	0.0001	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	76.62	.	chr1	109689286	.	CCA	C	76.62	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=30.26;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	5	1	0	4
chr1	109689289	109689289	-	GG	exonic	GSTM1	.	frameshift insertion	GSTM1:NM_000561:exon5:c.324_325insGG:p.M109Gfs*6,GSTM1:NM_146421:exon5:c.324_325insGG:p.M109Gfs*6	.	989	530	0	3	0	6	0.00562852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241704212	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.729e-05	0.0023	0	7.672e-05	0.0003	9.9e-06	4.75e-06	4.625e-05	1.913e-05	0	0	0.0003	0	0	0.0002	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	76.62	.	chr1	109689289	.	T	TGG	76.62	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=26.12;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	5	1	0	4
chr1	109689300	109689300	G	T	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.G335T:p.G112V,GSTM1:NM_146421:exon5:c.G335T:p.G112V	.	990	529	0	3	0	6	0.0056391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00254084323904	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1179816349	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.48e-05	0.0020	2.416e-05	2.547e-05	0.0001	4.12e-06	1.54e-06	.	.	3.525e-05	0	0.0001	0	0	0	0	0	0	0	0.972	0.02568	T	1.0	0.05727	T	0.001	0.07471	B	0.006	0.12133	B	0.193539	0.16783	N	0.517604	1	0.08975	N	-0.695	0.01866	N	3.96	0.03624	T	1.55	0.01787	N	0.221	0.24758	-1.0500	0.14397	T	0.001	0.00222	T	10	0.024888337	0.00701	T	0.002541	0.05093	T	0.136	0.36778	0.372	0.38340	0.0846915920261	0.08053	0.37431931498027177	0.37345	1.22941327989	0.81299	0.297374427319	0.10010	T	0.025902	0.19278	T	-0.263541	0.12489	T	-0.616335	0.11475	T	0.0328750871121883	0.02450	T	0.50475	0.19406	T	0.15011089	0.34189	0.087273456	0.20275	0.15011089	0.34189	0.087273456	0.20275	-3.923	0.33598	T	.	.	0.223	0.45458	B	.;.;.;.;.	.;.;.;.;.	-2.059496	0.00088	0.002	0.40153318879898264	0.02816	0.00211	0.01201	N	AEFDGBI	0.040038	0.05899	N	-2.43387908591156	0.00023	0.0009779129	-2.44140761310503	0.00031	0.001386376	0.995926402434481	0.34412	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	-6.34	0.01808	-2.119000	0.01411	-20.000000	0.00162	-0.841000	0.02792	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2701:0.2566:0.4732	5.922	0.18327	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	76.67	.	chr1	109689300	.	G	T	76.67	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=29.55;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	5	1	0	4
chr1	109689314	109689314	A	C	exonic	GSTM1	.	nonsynonymous SNV	GSTM1:NM_000561:exon5:c.A349C:p.N117H,GSTM1:NM_146421:exon5:c.A349C:p.N117H	.	995	526	0	1	0	2	0.00189753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0035593207228	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1363667431	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.238e-05	0.0008	0	2.543e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	0.007	0.61437	D	0.027	0.57104	D	0.953	0.54283	P	0.541	0.48869	P	0.726851	0.06346	U	1.173350	1	0.81001	D	2.535	0.73915	M	4.47	0.04228	T	-2.55	0.56787	D	0.214	0.30233	-0.9856	0.33687	T	0.013	0.05321	T	10	0.23352018	0.40371	T	0.003559	0.08123	T	0.164	0.42212	0.534	0.64293	0.224531998449	0.22054	0.4104308232327156	0.40959	1.06697471988	0.76656	0.264495611191	0.05438	T	0.137855	0.47102	T	-0.193259	0.21780	T	-0.51538	0.20763	T	0.415729910135269	0.29532	T	0.352565	0.08297	T	0.33059093	0.55519	0.15954101	0.37203	0.33059093	0.55519	0.15954101	0.37203	-9.012	0.72693	D	.	.	0.111	0.21728	B	.;.;.;.;.	.;.;.;.;.	2.041384	0.25950	16.94	0.9905595212720979	0.51367	0.87273	0.46762	D	AEFDGBI	0.292070	0.40304	N	-0.258970255628518	0.30745	1.71732	-0.390145311047094	0.25288	1.389861	0.799511939276101	0.24161	0.660085	0.49399	0	0.662677	0.63036	0	0.693144	0.63139	0	0.564101	0.26826	0	.	.	3.17	2.03	0.25714	2.245000	0.42784	2.689000	0.34074	0.750000	0.87069	0.958000	0.33488	0.003000	0.18671	0.004000	0.06068	0.871:0.0:0.129:0.0	6.008	0.18785	824	0.40336	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	76.67	.	chr1	109689314	.	A	C	76.67	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=56.5;QD=29.14;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	5	1	0	4
chr1	110112994	110112994	G	A	exonic	UBL4B	.	nonsynonymous SNV	UBL4B:NM_203412:exon1:c.G460A:p.A154T	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0025	0.00359425	0.0011	0.0123	0.0005	0	0	4.122e-05	0	8.681e-05	0.0008603	133	154602	rs140174144	0.0003	0.0003	0.0004	0.0003	0.0110	0.0003	0.0003	0.0100	0.0097	0.0110	0.0008	0	0	0	0.0005	1.803e-05	0.0010	9.398e-05	0.0029	0.0029	0.0030	0.0029	0.0096	0.0027	0.0026	0.0088	0.0085	0.0096	0	0.0029	0	0	0	0	1.47e-05	0.0024	0	0.011	0.55530	D	0.044	0.49663	D	0.734	0.42776	P	0.243	0.38752	B	0.302349	0.03962	U	1.577180	1	0.08975	N	1.445	0.36358	L	.	.	.	-0.49	0.15578	N	0.115	0.10340	-1.0100	0.26917	T	0.053	0.22539	T	9	0.0034535825	0.00061	T	.	.	.	0.078	0.22779	.	.	0.259761712551	0.25597	0.06295684546142372	0.06234	0.136686896134	0.15421	0.243465900421	0.03111	T	0.024039	0.18239	T	-0.525145	0.00410	T	-0.519149	0.20381	T	0.0213969687791669	0.00842	T	0.371663	0.08799	T	0.07460351	0.16754	0.13777359	0.32923	0.07460351	0.16754	0.13777359	0.32922	-4.246	0.27412	T	.	.	0.075	0.05711	B	.	.	1.712391	0.21803	15.36	0.96059001699027491	0.28588	0.27395	0.23265	N	AEFGBHCI	0.048161	0.08190	N	-0.419603215364067	0.24781	1.340587	-0.561480721751342	0.20501	1.104844	0.989185021057756	0.31747	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	2.75	2.75	0.31439	2.427000	0.44397	2.570000	0.33360	0.618000	0.50648	0.048000	0.21332	0.917000	0.28245	0.003000	0.05239	0.0:0.0:1.0:0.0	11.331	0.48714	370	0.84343	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	794.43	35	chr1	110112994	.	G	A	794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.584;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.255;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	0	1	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	317.64	86	chr1	110222977	.	C	G	317.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.896;DP=1036;ExcessHet=0;FS=119.203;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.19;ReadPosRankSum=3.16;SOR=7.634	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:102,0:102:0:.:.:0,0,1434:.	3	0	1	6
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	309.43	37	chr1	110222980	.	C	G	309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.322;DP=872;ExcessHet=0;FS=118.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=2.97;SOR=7.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	9	0	1	0
chr1	110223499	110223499	T	C	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.T1214C:p.I405T,KCNC4:NM_001377330:exon2:c.T1214C:p.I405T,KCNC4:NM_004978:exon2:c.T1214C:p.I405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.302057152959	.	.	8.286e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs750297898	6.842e-06	7.524e-06	9.53e-06	4.126e-06	2.987e-05	3.46e-06	2.52e-06	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	4.496e-06	3.312e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.37118	T	0.052	0.47581	T	0.985	0.61118	D	0.756	0.56253	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.08	0.27187	L	-4.85	0.98245	D	-3.71	0.70674	D	0.87	0.86725	1.083	0.98984	D	0.922	0.97415	D	10	0.8524344	0.84427	D	0.302057	0.90915	D	0.863	0.95839	0.472	0.54699	0.999911786721	0.99991	0.8946391373405372	0.89434	2.43584855541	0.97295	0.89025914669	0.95293	D	0.638008	0.88863	D	0.458681	0.92866	D	0.421087	0.92777	D	0.982883274555206	0.74762	D	0.944706	0.79020	D	0.39695436	0.60521	0.35028428	0.60640	0.39695436	0.60521	0.35028428	0.60640	-8.082	0.61919	D	.	.	0.572	0.67711	P	.;.;.	.;.;.	4.760786	0.76968	26.6	0.99750778316777111	0.84228	0.97431	0.74706	D	AEFGBI	0.856770	0.77405	D	0.530028039053655	0.68875	5.277657	0.5477744271187	0.71244	5.625155	0.9999999797738	0.74766	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.93	4.93	0.64394	8.017000	0.88732	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	14.861	0.70017	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3053.43	37	chr1	110223499	.	T	C	3053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.241;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.386;SOR=0.694	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr1	110223540	110223540	G	A	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.G1255A:p.D419N,KCNC4:NM_001377330:exon2:c.G1255A:p.D419N,KCNC4:NM_004978:exon2:c.G1255A:p.D419N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.110127376566	.	.	8.277e-06	0	0	0	0	1.508e-05	0	0	6.5e-06	1	154602	rs772738428	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.987e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	2.987e-05	0	0	0	1.88e-05	0	3.597e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.365	0.11732	T	0.432	0.16570	T	0.066	0.23586	B	0.067	0.27542	B	0.000001	0.84330	D	0.094421	0.990706	0.41217	D	0.175	0.09039	N	-4.65	0.97938	D	-0.43	0.17834	N	0.206	0.22870	0.470	0.90122	D	0.771	0.92220	D	10	0.377281	0.53927	T	0.110127	0.78738	D	0.396	0.71084	0.376	0.38994	0.999280504799	0.99927	0.7840773956373859	0.78358	1.39290018686	0.85036	0.712470412254	0.68951	T	0.351676	0.71921	T	0.018	0.54084	T	-0.212208	0.53484	T	0.473510503768921	0.31660	T	0.911209	0.69822	D	0.18842502	0.40340	0.0975388	0.23220	0.18842502	0.40340	0.0975388	0.23220	-5.654	0.43282	T	.	.	0.169	0.37140	B	.;.;.	.;.;.	3.596044	0.50772	23.0	0.99139460717947392	0.53491	0.90858	0.52394	D	AEFGBI	0.467360	0.51462	N	-0.0411831355753287	0.39997	2.367891	0.131699085522004	0.46180	2.868204	0.998513228957087	0.37109	0.736574	0.97449	0	0.588066	0.40923	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	4.697000	0.61467	7.672000	0.64834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3037:0.6963:0.0	12.944	0.57759	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4122.43	37	chr1	110223540	.	G	A	4122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=688;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.134;SOR=0.901	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr1	110341408	110341408	C	T	exonic	RBM15	.	nonsynonymous SNV	RBM15:NM_001201545:exon1:c.C2003T:p.A668V,RBM15:NM_022768:exon1:c.C2003T:p.A668V	Megakaryoblastic leukemia, acute	422	1039	57	4	0	65	0.0303313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0048	0.00559105	0.0061	0.0010	0.0040	0	0.0030	0.0067	0.0077	0.0129	0.0059572	921	154602	rs150900331	0.0060	0.0060	0.0056	0.0064	0.0229	0.0059	0.0058	0.0197	0.0185	0.0011	0.0042	0.0147	0	0.0034	0.0229	0.0056	0.0073	0.0127	0.0051	0.0051	0.0049	0.0052	0.0137	0.0048	0.0046	0.0110	0.0101	0.0009	0.0033	0.0054	0.0124	0.0002	0.0031	0.0238	0.0071	0.0076	0.0137	0.117	0.28271	T	0.312	0.19599	T	0.0	0.02946	B	0.0	0.01387	B	0.494839	0.12016	N	0.710757	1	0.08975	N	0.345	0.11182	N	2.2	0.18570	T	-1.7	0.40468	N	0.055	0.03175	-0.9287	0.44328	T	0.009	0.03227	T	10	0.0030899048	0.00051	T	.	.	.	0.027	0.05988	.	.	0.117191471859	0.11215	0.2182879860972043	0.21744	0.713490700197	0.61819	0.405892670155	0.25888	T	0.297953	0.67053	T	-0.665341	0.00058	T	-0.717462	0.04919	T	0.00200101687308719	0.00021	T	0.679332	0.28809	T	0.04694136	0.07941	0.08194425	0.18665	0.04694136	0.07941	0.08194425	0.18664	-4.584	0.32322	T	.	.	0.073	0.08272	B	.;.;.;.;.	.;.;.;.;.	1.796698	0.22840	15.78	0.95988238114539981	0.28380	0.33658	0.24881	N	ALL	0.181846	0.30916	N	-1.0320615013265	0.07945	0.3707962	-0.968512324056755	0.10497	0.529055	0.999999987827702	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.662433	0.64102	0	.	.	4.87	0.956	0.18731	0.682000	0.25015	0.428000	0.18294	-0.182000	0.10109	0.001000	0.13787	0.031000	0.21272	0.986000	0.61781	0.0:0.6211:0.0:0.3789	8.347	0.31441	872	0.31118	.;.;.;.;.	LAMTOR5	Skin_Not_Sun_Exposed_Suprapubic	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.015152	0.021739	0.008772	0.150000	0.025862	0.024390	0.026515	0.05	2080.43	42	chr1	110341408	.	C	T	2080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=515;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.757;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr1	110518708	110518708	C	T	exonic	KCNA10	.	nonsynonymous SNV	KCNA10:NM_005549:exon1:c.G80A:p.G27D	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260	.	0.0081	0.00878594	0.0026	0.0279	0.0014	0	0	7.974e-05	0.0012	0	0.002335	361	154602	rs115598075	0.0008	0.0008	0.0009	0.0007	0.0228	0.0008	0.0007	0.0215	0.0209	0.0228	0.0019	0	0	0	0.0019	0.0002	0.0013	0	0.0070	0.0070	0.0073	0.0067	0.0240	0.0066	0.0065	0.0228	0.0223	0.0240	0	0.0027	0	0	0	0	0.0002	0.0061	0	0.014	0.53172	D	0.442	0.13252	T	0.001	0.07471	B	0.002	0.06944	B	0.537747	0.05295	N	1.257310	0.837341	0.28678	N	1.01	0.25309	L	-4.18	0.96882	D	-1.15	0.29525	N	0.197	0.21710	-0.4350	0.70897	T	0.527	0.82385	D	10	0.005542755	0.00122	T	.	.	.	0.260	0.57221	.	.	0.58115309548	0.57786	0.17914753881455575	0.17833	0.0412586449432	0.04428	0.376091957092	0.21702	T	0.06909	0.33623	T	-0.352471	0.04573	T	-0.260152	0.48809	T	0.00467385380938013	0.00050	T	0.518548	0.16835	T	0.086403124	0.20082	0.0790709	0.17769	0.086403124	0.20082	0.0790709	0.17769	-2.973	0.09893	T	.	.	0.077	0.06341	B	.	.	1.188891	0.15801	12.11	0.97355296653308143	0.33544	0.59379	0.30899	D	AEFBI	0.199721	0.32650	N	-0.553128617459778	0.20385	1.074267	-0.431292337405844	0.24084	1.316911	4.28745433579627E-4	0.06935	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	1.51	0.22094	1.603000	0.36404	0.389000	0.17868	-0.234000	0.07639	0.043000	0.21118	0.006000	0.19429	0.652000	0.32748	0.1327:0.4679:0.2572:0.1421	3.149	0.06093	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1611.43	38	chr1	110518708	.	C	T	1611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.794;DP=481;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.154;SOR=0.727	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	110949885	110949885	G	C	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_001006945:exon2:c.C227G:p.T76R,LRIF1:NM_018372:exon3:c.C1835G:p.T612R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0209892720318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.447	0.36101	T	0.078	0.37927	B	0.118	0.41660	B	0.325441	0.14201	N	0.673920	1	0.08975	N	2.08	0.57402	M	1.91	0.31470	T	-1.22	0.41618	N	0.194	0.29081	-1.0451	0.15796	T	0.034	0.14813	T	10	0.08899155	0.15375	T	0.020989	0.43686	T	0.042	0.11227	0.147	0.05039	0.510758216515	0.50715	0.18596798790837074	0.18514	0.392744924576	0.40454	0.373809695244	0.21377	T	0.047302	0.27682	T	-0.186225	0.22814	T	-0.505276	0.21801	T	0.296376117410699	0.24854	T	0.735226	0.35154	T	0.07448203	0.16716	0.09102388	0.21379	0.07448203	0.16716	0.09102388	0.21379	-4.48	0.30626	T	0.21689145730599693	0.29182	0.106	0.24934	B	.;.;.	.;.;.	2.084065	0.26508	17.14	0.97828875922411263	0.36246	0.29413	0.23815	N	AEFGBI	0.119995	0.23396	N	-0.387048147501053	0.25930	1.411299	-0.408242646252422	0.24755	1.357	0.177658675517435	0.17826	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	3.77	0.42499	2.389000	0.44060	6.609000	0.56081	0.656000	0.54149	0.073000	0.22155	0.999000	0.35428	0.980000	0.58198	0.086:0.0:0.7477:0.1664	7.287	0.25520	625	0.65529	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1887.43	36	chr1	110949885	.	G	C	1887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=450;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.23;SOR=0.477	GT:AD:DP:GQ:PL	0/1:70,74:144:99:1899,0,1674	9	0	1	0
chr1	111350138	111350138	C	T	exonic	PIFO	.	nonsynonymous SNV	PIFO:NM_001300831:exon4:c.C323T:p.P108L,PIFO:NM_181643:exon5:c.C422T:p.P141L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.011702318135	0.0002	0.000199681	0.0001	0.0006	0.0005	0	0	1.499e-05	0	0	9.06e-05	14	154602	rs371024578	5.404e-05	5.404e-05	6.807e-05	3.988e-05	0.0005	4.41e-05	4.082e-05	0.0003	0.0003	0.0005	0.0005	0	7.558e-05	0	0	2.069e-05	6.623e-05	0.0001	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0.0002	9.427e-05	0	2.941e-05	0	0	0.086	0.32610	T	0.182	0.30631	T	0.951	0.53992	P	0.451	0.46123	P	0.275103	0.15052	N	0.662254	1	0.08975	N	1.87	0.49600	L	1.97	0.30133	T	-4.23	0.77143	D	0.282	0.38027	-1.0685	0.09746	T	0.035	0.15074	T	10	0.06714967	0.09314	T	0.011702	0.29585	T	0.063	0.18251	.	.	0.229924730088	0.22615	0.24026271498202895	0.23940	0.131956524473	0.14876	0.316593408585	0.12905	T	0.443435	0.78723	T	-0.478816	0.00751	T	-0.568078	0.15627	T	0.0928854034203194	0.11556	T	0.693531	0.30321	T	0.04693368	0.07938	0.06453926	0.12951	0.04693368	0.07938	0.06453926	0.12950	-5.061	0.37495	T	.	.	0.075	0.05668	B	.;.	.;.	0.814513	0.11854	8.423	0.95698899284553807	0.27587	0.03975	0.09388	N	AEFBI	0.045276	0.07385	N	-0.510296531328316	0.21745	1.156336	-0.660524281140271	0.17952	0.9568344	0.0125962015049366	0.12349	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	6.08	2.09	0.26154	0.312000	0.19147	-0.201000	0.10944	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.1677:0.588:0.0:0.2443	4.375	0.10700	847	0.35998	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	552.43	33	chr1	111350138	.	C	T	552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=363;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.621;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1060	9	0	1	0
chr1	111414961	111414961	A	0	exonic	OVGP1	.	.	.	.	423	578	414	100	7	621	0.346893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1571.06	110	chr1	111414961	.	A	*	1571.06	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.5;DP=805;ExcessHet=0.2065;FS=0.523;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=2.12;SOR=0.756	GT:AD:DP:GQ:PL	0/1:58,41:99:99:1517,0,2161	6	0	4	0
chr1	111414970	111414970	A	0	exonic	OVGP1	.	.	.	.	427	574	414	100	7	621	0.348468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1837.02	110	chr1	111414970	.	A	*	1837.02	.	AC=4;AF=0.2;AN=20;DP=807;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=4.32;SOR=0.707	GT:AD:DP:GQ:PL	0/1:58,41:99:99:1517,0,2161	6	0	4	0
chr1	111477698	111477698	G	A	exonic	C1orf162	.	nonsynonymous SNV	C1orf162:NM_001300835:exon4:c.G163A:p.V55I,C1orf162:NM_174896:exon5:c.G250A:p.V84I	.	420	1082	19	1	0	21	0.00961098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00409375774602	0.0005	0.00159744	0.0016	0.0002	0.0009	0	0	0.0006	0.0022	0.0090	0.0013907	215	154602	rs140103670	0.0010	0.0010	0.0007	0.0012	0.0082	0.0009	0.0009	0.0077	0.0075	0.0001	0.0006	0.0010	0	0	0.0045	0.0005	0.0011	0.0082	0.0006	0.0006	0.0006	0.0006	0.0069	0.0005	0.0005	0.0050	0.0044	0.0001	0	0.0003	0.0012	0	0	0	0.0006	0.0005	0.0069	0.229	0.18371	T	0.427	0.13832	T	0.046	0.21875	B	0.011	0.15521	B	0.095398	0.02496	N	2.152440	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-0.17	0.09627	N	0.099	0.08088	-1.0725	0.08873	T	0.027	0.11485	T	10	0.0035338998	0.00063	T	0.004094	0.09775	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.0694724589363589	0.06885	0.417457423283	0.42365	.	.	.	0.002328	0.01720	T	-0.659428	0.00063	T	-0.714026	0.05090	T	0.00108029322057687	0.00010	T	0.322168	0.06550	T	0.035075165	0.04059	0.033002805	0.02125	0.035075165	0.04059	0.033002805	0.02125	-3.601	0.17871	T	.	.	0.112	0.21987	B	.	.	0.585064	0.09533	6.312	0.92389584783126355	0.21800	0.01920	0.05866	N	AEFDBI	0.032020	0.03537	N	-1.30145367959959	0.03659	0.1638355	-1.36204659220269	0.03666	0.1714712	0.999820827371025	0.43622	0.600919	0.35232	0	0.596877	0.49441	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	4.1	-2.52	0.05978	0.261000	0.18211	1.116000	0.24201	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5629:0.0:0.2656:0.1714	4.289	0.10313	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.018939	0.05	1378.43	111	chr1	111477698	.	G	A	1378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.624;DP=467;ExcessHet=0;FS=3.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.446;SOR=1.147	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1262	9	0	1	0
chr1	111488886	111488886	A	G	exonic	TMIGD3	.	nonsynonymous SNV	TMIGD3:NM_001081976:exon3:c.T353C:p.I118T,TMIGD3:NM_020683:exon3:c.T596C:p.I199T	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0103976899152	.	0.000199681	1.648e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs527326365	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.089	0.32141	T	0.002	0.79402	D	.	.	.	.	.	.	0.025861	0.26018	N	0.279570	0.963864	0.26006	N	.	.	.	3.53	0.04852	T	-0.62	0.37566	N	0.383	0.51048	-0.8812	0.49665	T	0.143	0.46422	T	10	0.20946658	0.37310	T	0.010398	0.26893	T	0.082	0.23913	0.569	0.69167	0.455816718377	0.45207	0.3837026637559841	0.38285	0.0370465282371	0.03928	0.593487381935	0.51987	T	0.073652	0.34749	T	-0.182105	0.23422	T	-0.499357	0.22414	T	0.294925600290298	0.24794	T	0.659534	0.26859	T	0.09212726	0.21605	0.08971146	0.20995	0.09212726	0.21604	0.08971146	0.20995	-8.694	0.75342	D	.	.	0.177	0.38623	B	.;.	.;.	2.261805	0.28903	17.95	0.86002481916251139	0.16249	0.63673	0.32163	D	AEFBI	0.139174	0.26069	N	0.0167682739938382	0.42618	2.571261	0.014937016510841	0.40407	2.410998	0.999830165856239	0.43792	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.15	4.04	0.46262	1.603000	0.36404	2.119000	0.30708	0.756000	0.94297	0.867000	0.30739	0.001000	0.17328	0.007000	0.07825	0.8981:0.0:0.1019:0.0	6.857	0.23228	614	0.66605	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1817.43	36	chr1	111488886	.	A	G	1817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.33;DP=461;ExcessHet=0;FS=2.249;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.621;SOR=0.919	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1129	9	0	1	0
chr1	112550624	112550624	G	A	exonic	ST7L	.	nonsynonymous SNV	ST7L:NM_001308264:exon12:c.C917T:p.T306M,ST7L:NM_017744:exon13:c.C1466T:p.T489M,ST7L:NM_138727:exon13:c.C1415T:p.T472M,ST7L:NM_138729:exon13:c.C1466T:p.T489M	.	436	1084	2	0	0	2	0.000921659	.	.	.	2340471	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.124	0.0344226869785	0.0002	0.000199681	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0.0002264	35	154602	rs142542242	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0005	0	0.0002	0.0026	2.525e-05	1.874e-05	0.0012	4.589e-05	0.0003	0.0007	0.0001	0.0001	0.0001	8.066e-05	0.0006	7.092e-05	5.748e-05	0.0002	9.022e-05	0	0	6.54e-05	0.0017	0	0	0	0.0001	0	0.0006	0.092	0.35349	T	0.013	0.63918	D	0.945	0.62824	P	0.594	0.55619	P	0.000018	0.62929	N	0.154235	0.998636	0.81001	D	2.19	0.61577	M	2.1	0.19990	T	-1.93	0.45042	N	0.278	0.33250	-1.1378	0.01443	T	0.044	0.18989	T	10	0.025365531	0.00733	T	0.034423	0.55668	D	0.124	0.34239	.	.	0.416075642716	0.41223	0.7062561368893706	0.70567	0.105421430859	0.11918	0.400207340717	0.25098	T	0.00414	0.03552	T	-0.464921	0.00915	T	-0.53801	0.18493	T	0.0714610188314061	0.08855	T	0.835416	0.50550	T	0.034370888	0.03843	0.0786793	0.17644	0.034370888	0.03843	0.0786793	0.17644	-4.362	0.29367	T	.	.	0.069	0.07365	B	.;.;.;.;.	.;.;.;.;.	3.242385	0.44262	21.9	0.99586771746513525	0.73336	0.92094	0.54931	D	AEFBI	0.470120	0.51621	N	-0.0249598787395297	0.40727	2.423673	-0.00978336657672146	0.39272	2.325983	0.0299660617270688	0.13916	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.69	2.81	0.31971	2.954000	0.48806	5.191000	0.47899	-1.611000	0.00880	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1364:0.0:0.7434:0.1202	9.357	0.37338	860	0.33753	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	191.43	34	chr1	112550624	.	G	A	191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.18;DP=315;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=1.37;SOR=0.775	GT:AD:DP:GQ:PL	0/1:17,11:28:99:203,0,394	9	0	1	0
chr1	112654521	112654521	C	G	exonic	CAPZA1	.	nonsynonymous SNV	CAPZA1:NM_006135:exon5:c.C276G:p.N92K	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00489732662432	0.0002	0.000199681	0.0005	0.0002	8.66e-05	0	0	1.499e-05	0.0011	0.0036	0.0004398	68	154602	rs371346893	0.0002	0.0002	8.712e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0010	6.295e-06	0.0001	0.0030	9.856e-05	9.843e-05	7.714e-05	0.0001	0.0021	6.006e-05	4.88e-05	0.0011	0.0009	7.226e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.049	0.39820	D	0.028	0.54934	D	0.991	0.64070	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	0.964683	0.38422	D	1.965	0.53209	M	.	.	.	-2.13	0.48354	N	0.367	0.40864	-0.7727	0.56709	T	0.215	0.57718	T	9	0.019715786	0.00444	T	0.004897	0.12318	T	0.146	0.38789	0.525	0.62967	0.59497832424	0.59176	0.6249348457931955	0.62426	0.31274946095	0.33575	0.729423701763	0.71421	T	0.07272	0.34524	T	-0.458839	0.01000	T	-0.434603	0.29414	T	0.102700732224491	0.12652	T	0.936906	0.76326	D	0.42611736	0.62497	0.3784169	0.62920	0.42611736	0.62497	0.3784169	0.62920	-3.303	0.13776	T	.	.	0.392	0.59148	A	.	.	3.735130	0.53455	23.4	0.99545412633999852	0.70773	0.95734	0.65927	D	AEFGBI	0.716795	0.66852	D	0.54118286559011	0.69545	5.372449	0.509471069495419	0.68624	5.246093	0.0201003894572361	0.13225	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.69	3.77	0.42499	2.740000	0.47092	2.703000	0.34176	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8369:0.0:0.1631	9.812	0.39996	901	0.24189	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1143.43	35	chr1	112654521	.	C	G	1143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.108;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-1.047;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	9	0	1	0
chr1	112913896	112913896	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1498A:p.V500I,SLC16A1:NM_003051:exon5:c.G1498A:p.V500I	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00579887363399	.	.	8.241e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs775789149	2.052e-06	2.052e-06	2.722e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	3.826e-05	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.05245	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	0.227981	0.03499	N	1.660300	1	0.08975	N	0.55	0.14455	N	1.91	0.23283	T	-0.08	0.08187	N	0.176	0.20925	-1.0161	0.24980	T	0.012	0.04747	T	10	0.02623862	0.00795	T	0.005799	0.15072	T	0.024	0.04979	0.194	0.10571	0.110392049598	0.10638	0.1114119515998816	0.11070	0.27267148181	0.29773	0.374688088894	0.21502	T	0.09268	0.39053	T	-0.24671	0.14506	T	-0.592158	0.13480	T	0.0296397600322962	0.01935	T	.	.	.	0.057520118	0.11456	0.027764559	0.00953	0.057520118	0.11456	0.027764559	0.00953	-5.306	0.40003	T	.	.	0.087	0.11414	B	.;.	.;.	0.883975	0.12572	9.100	0.82721935294822513	0.14340	0.15420	0.18903	N	AEFBI	0.119331	0.23295	N	-0.776810929061314	0.13915	0.6891074	-0.660150425308615	0.17960	0.9573774	0.78596530235453	0.23930	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	1.91	0.24841	-0.045000	0.11957	-0.298000	0.10137	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.978000	0.57271	0.0:0.4979:0.3512:0.1509	5.613	0.16698	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	278.14	37	chr1	112913896	.	C	T	278.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.687;DP=470;ExcessHet=0.2348;FS=58.199;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=3.2;SOR=6.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	8	0	2	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	722.66	82	chr1	112913901	.	C	G	722.66	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.427;DP=779;ExcessHet=1.5895;FS=141.989;InbreedingCoeff=-0.276;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.02;ReadPosRankSum=2.09;SOR=7.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:8:.:.:0,8,1312:.	6	0	4	0
chr1	113590573	113590573	T	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.T853C:p.Y285H,MAGI3:NM_152900:exon5:c.T853C:p.Y285H	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0067	0.00219649	0.0054	0.0029	0.0013	0	0.0114	0.0079	0.0055	0.0005	0.0058214	900	154602	rs149597924	0.0087	0.0087	0.0090	0.0085	0.0104	0.0086	0.0086	0.0102	0.0101	0.0031	0.0020	0.0024	0	0.0110	0.0024	0.0104	0.0058	0.0004	0.0062	0.0062	0.0060	0.0063	0.0089	0.0058	0.0057	0.0083	0.0080	0.0031	0.0033	0.0027	0.0026	0	0.0127	0.0034	0.0089	0.0080	0.0006	0.425	0.19854	T	0.522	0.15305	T	0.988	0.62325	D	0.854	0.60866	P	0.000003	0.62929	D	0.110120	0.992614	0.41694	D	1.59	0.40313	L	2.56	0.15724	T	-0.87	0.23808	N	0.614	0.63035	-1.0862	0.06191	T	0.037	0.15856	T	10	0.005224645	0.00114	T	.	.	.	0.147	0.38986	.	.	0.143184338766	0.13958	0.33790276454343116	0.33703	0.708216348336	0.61539	0.708433866501	0.68366	T	0.065746	0.32768	T	-0.44851	0.01153	T	-0.404706	0.32837	T	0.0251914156434318	0.01298	T	0.89741	0.64114	D	0.14065352	0.32443	0.103441365	0.24820	0.14065352	0.32442	0.103441365	0.24820	-7.689	0.71498	D	.	.	0.269	0.50343	B	.;.;.;.	.;.;.;.	4.057024	0.60177	24.2	0.99651975829445139	0.77380	0.90619	0.51945	D	AEDI	0.351985	0.44490	N	0.218484437815439	0.52095	3.385954	0.230442361398615	0.51546	3.336086	0.873763235308425	0.25472	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.77	0.60425	5.472000	0.66496	6.164000	0.54386	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0682:0.0:0.9318	11.867	0.51774	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.004076	0.002924	0.000000	0.008621	0.003049	0.000000	0.05	1707.43	33	chr1	113590573	.	T	C	1707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.644;DP=433;ExcessHet=0;FS=7.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.7;SOR=0.318	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	9	0	1	0
chr1	113724885	113724885	C	T	exonic	PHTF1	.	nonsynonymous SNV	PHTF1:NM_001323049:exon6:c.G497A:p.R166Q,PHTF1:NM_006608:exon6:c.G497A:p.R166Q,PHTF1:NM_001323041:exon7:c.G497A:p.R166Q,PHTF1:NM_001323042:exon7:c.G497A:p.R166Q,PHTF1:NM_001323043:exon7:c.G497A:p.R166Q,PHTF1:NM_001323044:exon7:c.G371A:p.R124Q,PHTF1:NM_001323047:exon7:c.G497A:p.R166Q,PHTF1:NM_001323048:exon7:c.G497A:p.R166Q,PHTF1:NM_001323051:exon7:c.G371A:p.R124Q,PHTF1:NM_001323052:exon7:c.G497A:p.R166Q,PHTF1:NM_001323053:exon7:c.G497A:p.R166Q,PHTF1:NM_001323045:exon8:c.G371A:p.R124Q,PHTF1:NM_001323050:exon8:c.G371A:p.R124Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00290407327926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248952900	1.39e-06	3.42e-06	2.764e-06	0	9.061e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.888e-05	0	9.061e-07	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.075	0.34444	T	0.205	0.27145	T	0.93	0.51791	P	0.315	0.41566	B	0.026769	0.25864	N	0.324362	0.999999	0.81001	D	2.275	0.64647	M	.	.	.	-2.0	0.50175	N	0.494	0.53884	-1.1153	0.02651	T	0.046	0.19559	T	9	0.22958949	0.39890	T	0.002904	0.06133	T	0.078	0.22779	0.289	0.24921	0.302793454619	0.29890	0.4901743255973262	0.48937	0.185452631299	0.20850	0.563128709793	0.47709	T	0.083337	0.37031	T	0.0441479	0.57586	T	-0.174361	0.57043	T	0.899383723735809	0.55168	D	0.909209	0.67884	D	0.13367243	0.31084	0.07655979	0.16970	0.13367243	0.31084	0.07655979	0.16970	-5.422	0.42471	T	.	.	0.413	0.62216	A	.;.;.;.	.;.;.;.	3.957718	0.58026	23.9	0.99794740390073233	0.88017	0.90307	0.51379	D	AEFBI	0.374691	0.45950	N	0.0913328135511036	0.46060	2.852226	0.206440574438963	0.50203	3.214957	0.296753784957883	0.19146	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.29	4.36	0.51643	3.079000	0.49802	6.015000	0.52706	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9164:0.0:0.0836	11.654	0.50569	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	563.43	34	chr1	113724885	.	C	T	563.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.588;DP=333;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.027;SOR=0.477	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	9	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:78,44:133:99:426,0,842	0	0	10	0
chr1	114860747	114860747	C	T	exonic	SYCP1	.	nonsynonymous SNV	SYCP1:NM_001282541:exon8:c.C536T:p.T179I,SYCP1:NM_001282542:exon8:c.C536T:p.T179I,SYCP1:NM_003176:exon8:c.C536T:p.T179I	.	452	1052	18	0	0	18	0.00848256	.	.	.	745588	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.281	0.0141348020109	0.0012	0.000599042	0.0020	0	0.0005	0	0	0.0022	0.0060	0.0054	0.001533	237	154602	rs150451249	0.0015	0.0015	0.0013	0.0017	0.0111	0.0014	0.0014	0.0086	0.0078	0.0002	0.0004	0.0033	2.569e-05	0.0001	0.0111	0.0012	0.0020	0.0059	0.0010	0.0010	0.0010	0.0011	0.0048	0.0009	0.0008	0.0033	0.0028	0.0001	0	0.0010	0.0043	0	9.446e-05	0.0102	0.0013	0.0009	0.0048	0.002	0.72154	D	0.139	0.37449	T	1.0	0.90584	D	0.979	0.74454	D	0.000014	0.62929	D	0.112628	0.987196	0.40550	D	2.085	0.57729	M	0.56	0.54540	T	-2.44	0.63090	N	0.638	0.67564	-0.9053	0.47412	T	0.184	0.53285	T	10	0.0132445395	0.00282	T	0.014135	0.34055	T	0.281	0.59861	.	.	0.278043722374	0.27408	0.7670947493717172	0.76658	0.602018099317	0.55225	0.567115843296	0.48271	T	0.244099	0.61315	T	-0.222791	0.17613	T	-0.0904664	0.64127	T	0.0489172973655172	0.05308	T	0.791621	0.57032	T	0.59118	0.72215	0.5723019	0.75230	0.59118	0.72216	0.5723019	0.75231	-3.09	0.11182	T	.	.	0.497	0.67008	A	.;.;.;.;.	.;.;.;.;.	4.416453	0.68366	25.2	0.99858438954959727	0.93729	0.94169	0.60322	D	AEFDI	0.499265	0.53302	N	0.525027145739938	0.68573	5.235982	0.508771397051291	0.68580	5.239554	0.0193736205149413	0.13156	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	3.97	0.45241	3.565000	0.53543	3.967000	0.40794	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.9177:0.0:0.0823	12.620	0.55958	843	0.36859	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005435	0.005848	0.000000	0.008621	0.009146	0.003788	0.05	419.43	33	chr1	114860747	.	C	T	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.63;ReadPosRankSum=-0.494;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,976	9	0	1	0
chr1	116128208	116128208	G	A	exonic	MAB21L3	.	nonsynonymous SNV	MAB21L3:NM_152367:exon6:c.G724A:p.E242K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0206339754138	.	.	3.296e-05	0	0	0	0	5.997e-05	0	0	2.59e-05	4	154602	rs750057560	2.257e-05	2.257e-05	2.45e-05	2.063e-05	0.0005	1.61e-05	1.416e-05	0.0001	7.541e-05	0	0	0	2.519e-05	3.744e-05	0.0005	2.338e-05	1.656e-05	0	4.599e-05	4.597e-05	2.569e-05	6.725e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	0	0	0	0	0	9.411e-05	0	8.819e-05	0	0	0.016	0.51853	D	0.083	0.41405	T	0.032	0.20242	B	0.042	0.24114	B	0.000107	0.50451	D	0.084915	0.999966	0.52935	D	2.77	0.80896	M	1.96	0.22270	T	-3.09	0.63438	D	0.975	0.98563	-1.0632	0.10974	T	0.058	0.24502	T	10	0.97793424	0.97646	D	0.020634	0.43263	T	0.438	0.74235	0.933	0.98990	0.601095518603	0.59790	0.8815122705563192	0.88119	0.0980872584222	0.11074	0.480538368225	0.36131	T	0.329143	0.69947	T	0.078338	0.61846	D	0.0723937	0.75071	D	0.624193251132965	0.37378	D	0.877412	0.59112	D	0.40104905	0.60805	0.3264293	0.58549	0.40104905	0.60805	0.3264293	0.58549	-5.304	0.39983	T	.	.	0.300	0.52961	B	.	.	4.104975	0.61238	24.3	0.99823351733040722	0.90590	0.98327	0.81666	D	AEFBI	0.853742	0.77073	D	0.273958361509996	0.54832	3.647978	0.37971967614089	0.60314	4.217784	0.999997846002496	0.74766	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.565000	0.81337	9.982000	0.82930	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	19.167	0.93547	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1602.43	33	chr1	116128208	.	G	A	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=467;ExcessHet=0;FS=4.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.589;SOR=0.537	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1404	9	0	1	0
chr1	117076755	117076755	C	G	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon7:c.C1505G:p.P502R	.	423	1087	9	3	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0546821588281	0.0008	0.000798722	0.0006	9.61e-05	0.0004	0	0.0002	0.0009	0.0022	6.089e-05	0.0005563	86	154602	rs142460316	0.0009	0.0009	0.0009	0.0009	0.0017	0.0009	0.0009	0.0010	0.0010	0.0003	0.0007	0.0007	0	0.0001	0.0017	0.0011	0.0012	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0009	0	0	0.0002	0	0.0011	0.0019	0.0004	0.026	0.46910	D	0.032	0.53426	D	0.684	0.41517	P	0.209	0.37260	B	0.048019	0.23291	N	0.219801	1	0.08975	N	2.05	0.56469	M	-2.22	0.87038	D	-2.38	0.52451	N	0.368	0.40963	-0.3139	0.74595	T	0.531	0.82583	D	10	0.018920392	0.00416	T	0.054682	0.65950	D	0.247	0.55478	.	.	0.820817334265	0.81912	0.41558741462957033	0.41474	0.199913314117	0.22393	0.28744751215	0.08552	T	0.029907	0.21320	T	-0.28428	0.10218	T	-0.231566	0.51621	T	0.00934911947987783	0.00119	T	0.329867	0.06895	T	0.09596712	0.22596	0.06615327	0.13510	0.09596712	0.22596	0.06615327	0.13510	-6.046	0.46662	T	.	.	0.085	0.10256	B	.	.	1.364117	0.17734	13.34	0.9849430273230676	0.42132	0.19087	0.20522	N	AEFBI	0.051833	0.09196	N	-0.289949994759726	0.29536	1.638753	-0.443235559324899	0.23742	1.296302	0.913130403057434	0.26414	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.93	3.01	0.33872	1.252000	0.32476	0.114000	0.14823	-0.176000	0.10722	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1584:0.6772:0.0:0.1644	5.531	0.16273	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1421.43	38	chr1	117076755	.	C	G	1421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.417;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.009;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	9	0	1	0
chr1	117092779	117092779	G	A	exonic	TTF2	.	nonsynonymous SNV	TTF2:NM_003594:exon18:c.G2854A:p.E952K	.	422	1084	16	0	0	16	0.00732601	.	.	.	706616	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.500	.	0.0078	0.00479233	0.0072	0.0012	0.0043	0	0.0020	0.0113	0.0066	0.0024	0.0071215	1101	154602	rs41306197	0.0078	0.0078	0.0077	0.0079	0.0121	0.0077	0.0076	0.0099	0.0090	0.0014	0.0050	0.0384	0	0.0015	0.0121	0.0082	0.0099	0.0022	0.0069	0.0069	0.0075	0.0063	0.0096	0.0065	0.0064	0.0090	0.0088	0.0015	0.0636	0.0065	0.0366	0	0.0008	0.0102	0.0096	0.0133	0.0019	0.039	0.42487	D	0.128	0.34959	T	1.0	0.90584	D	0.998	0.88582	D	0.001813	0.37945	N	0.000000	1	0.81001	D	2.91	0.84121	M	-2.29	0.87591	D	-1.37	0.33998	N	0.647	0.65844	0.222	0.86288	D	0.691	0.89345	D	10	0.009188026	0.00208	T	.	.	.	0.500	0.78350	.	.	0.94980648375	0.94927	0.40208463991760734	0.40124	0.774771022593	0.64964	0.594895720482	0.52183	T	0.023315	0.17820	T	-0.230493	0.16584	T	-0.0928324	0.63949	T	0.0267691115987556	0.01512	T	0.935306	0.75759	D	0.1221448	0.28709	0.118917234	0.28704	0.1221448	0.28708	0.118917234	0.28703	-12.071	0.85195	D	.	.	0.270	0.50370	B	.	.	4.847000	0.79187	27.1	0.99905566058912054	0.97651	0.98527	0.83734	D	AEFDGBCIJ	0.901852	0.84905	D	0.630458009251532	0.75108	6.24836	0.56580612014504	0.72504	5.820292	0.999999999999484	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	8.857000	0.91856	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:0.0:1.0:0.0	13.794	0.62652	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.025253	0.021739	0.002924	0.050000	0.000000	0.009146	0.007576	0.05	2109.43	33	chr1	117092779	.	G	A	2109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.402;DP=491;ExcessHet=0;FS=1.167;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.28;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	9	0	1	0
chr1	117623641	117623641	C	T	exonic	TENT5C	.	nonsynonymous SNV	TENT5C:NM_017709:exon2:c.C773T:p.T258I	.	420	1101	1	0	0	1	0.000453926	.	.	.	137969	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.013	0.00399986456325	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs587778306	1.71e-05	1.71e-05	1.497e-05	1.925e-05	0.0004	1.174e-05	9.92e-06	0.0003	0.0002	0.0004	4.472e-05	0	0	0	0	0	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.078	0.42261	T	0.017	0.17573	B	0.028	0.21332	B	0.423250	0.12842	N	0.725554	0.801782	0.29106	N	.	.	.	1.97	0.22067	T	-1.01	0.26639	N	0.054	0.02559	-1.0436	0.16236	T	0.017	0.07092	T	10	0.10252601	0.18796	T	0.004	0.09493	T	0.013	0.01715	0.407	0.44066	0.123314135267	0.11883	0.41507378258615785	0.41423	0.625271187301	0.56708	0.42029517889	0.27877	T	0.023835	0.18124	T	-0.377326	0.03238	T	-0.582807	0.14295	T	0.125313431024551	0.14942	T	0.875013	0.58582	D	0.1335313	0.31056	0.13290815	0.31882	0.1335313	0.31056	0.13290815	0.31881	-5.281	0.39754	T	.	.	0.111	0.21616	B	.	.	3.061137	0.41109	21.3	0.99154400916757435	0.53903	0.76765	0.37676	D	AEFDGBCI	0.259641	0.37794	N	-0.0918224845173871	0.37750	2.20083	0.103430443372737	0.44723	2.748624	0.999999998920901	0.74766	0.625279	0.40028	0	0.60822	0.50512	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.71	4.8	0.61157	2.416000	0.44298	3.356000	0.37822	-0.176000	0.10722	0.979000	0.35152	0.995000	0.32472	0.973000	0.55318	0.0:0.8545:0.0:0.1455	9.620	0.38881	685	0.59416	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2766.43	34	chr1	117623641	.	C	T	2766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.619;DP=545;ExcessHet=0;FS=5.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.625;SOR=0.642	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1249	9	0	1	0
chr1	117912072	117912072	T	C	exonic	GDAP2	.	nonsynonymous SNV	GDAP2:NM_001135589:exon5:c.A481G:p.M161V,GDAP2:NM_017686:exon5:c.A481G:p.M161V	.	434	1087	1	0	0	1	0.00045977	.	.	.	3539017	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00687899929341	0.0005	0.000599042	0.0002	9.699e-05	0	0	0	0.0003	0.0011	0.0002	0.0001746	27	154602	rs139796812	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	2.239e-05	0.0030	5.047e-05	0	0.0002	0.0002	0.0003	8.134e-05	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0	0.0043	0	0	0	0.0002	0	0	0.145	0.25154	T	0.107	0.38160	T	0.063	0.25247	B	0.037	0.23121	B	0.000000	0.84330	N	0.036199	0.999994	0.58761	D	0.11	0.08516	N	2.12	0.19726	T	-1.04	0.27259	N	0.387	0.42834	-1.0036	0.28874	T	0.010	0.03811	T	10	0.010946721	0.00241	T	0.006879	0.18205	T	0.047	0.12962	.	.	0.216624796971	0.21254	0.7107910349353793	0.71021	0.212482428968	0.23749	0.535027384758	0.43743	T	0.043684	0.26579	T	-0.439506	0.01302	T	-0.551024	0.17227	T	0.013131237493157	0.00231	T	0.79912	0.44420	T	0.5148736	0.67964	0.17213847	0.39446	0.42112902	0.62167	0.22178665	0.46999	-5.726	0.44574	T	.	.	0.176	0.44423	B	.;.	.;.	1.897475	0.24102	16.27	0.90902016897470617	0.20151	0.92157	0.55071	D	AEFBI	0.129007	0.24700	N	-0.480489328129975	0.22722	1.215197	-0.331692727939718	0.27082	1.500264	0.00791477960620308	0.11571	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.23	1.64	0.22949	2.913000	0.48487	0.297000	0.16936	0.658000	0.54486	1.000000	0.71638	0.072000	0.22236	0.970000	0.54328	0.0:0.2105:0.0:0.7895	9.186	0.36333	678	0.60190	Macro domain|Macro domain|Macro domain|GDAP2, macro domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	618.43	33	chr1	117912072	.	T	C	618.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.246;DP=363;ExcessHet=0;FS=1.117;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.25;SOR=0.683	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1037	9	0	1	0
chr1	119383022	119383022	T	A	exonic	HAO2	.	nonsynonymous SNV	HAO2:NM_016527:exon3:c.T239A:p.F80Y,HAO2:NM_001005783:exon4:c.T278A:p.F93Y,HAO2:NM_001377472:exon4:c.T278A:p.F93Y	.	433	1055	32	2	0	36	0.0167754	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0221846542679	0.0015	0.00119808	0.0023	0.0009	0.0026	0	0	0.0028	0.0036	0.0025	0.0020763	321	154602	rs41306185	0.0019	0.0019	0.0018	0.0020	0.0170	0.0018	0.0018	0.0143	0.0133	0.0006	0.0022	0.0010	0	0.0004	0.0170	0.0019	0.0025	0.0026	0.0016	0.0016	0.0018	0.0014	0.0024	0.0014	0.0014	0.0021	0.0019	0.0007	0	0.0018	0.0009	0	9.418e-05	0.0170	0.0024	0.0052	0.0021	0.013	0.53900	D	0.109	0.37449	T	0.186	0.29254	B	0.274	0.40037	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.28	0.32218	L	1.56	0.29602	T	-1.68	0.40082	N	0.66	0.71055	-1.0737	0.08619	T	0.046	0.19800	T	9	0.020435303	0.00471	T	0.022185	0.45053	T	0.174	0.44019	.	.	0.184867976434	0.18130	0.7442278364771182	0.74368	0.148931395982	0.16796	0.553254902363	0.46316	T	0.016884	0.39789	T	-0.371119	0.03538	T	-0.31079	0.43573	T	0.0347134229547542	0.02759	T	0.940406	0.77539	D	0.4336018	0.62987	0.30213737	0.56246	0.4336018	0.62988	0.30213737	0.56245	-4.546	0.31486	T	.	.	0.205	0.43032	B	.;.;.;.	.;.;.;.	3.012749	0.40293	21.1	0.98698266928499656	0.44866	0.98959	0.89186	D	AEFBI	0.970689	0.99290	D	0.044259173628731	0.43878	2.672305	0.151712515987709	0.47231	2.956636	0.99940961548204	0.39524	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	6.039000	0.52998	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.068000	0.16518	0.0:0.0:0.0:1.0	15.668	0.77002	770	0.49152	FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain;.;FMN-dependent dehydrogenase|FMN hydroxy acid dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.025253	0.020380	0.008772	0.000000	0.017241	0.024390	0.007576	0.05	1213.43	36	chr1	119383022	.	T	A	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.903;DP=413;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.721;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1131	9	0	1	0
chr1	119422169	119422169	T	C	exonic	HSD3B2	.	nonsynonymous SNV	HSD3B2:NM_000198:exon4:c.T668C:p.V223A,HSD3B2:NM_001166120:exon4:c.T668C:p.V223A	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.108876548008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.086	0.40909	T	0.815	0.45525	P	0.679	0.53442	P	0.000002	0.62929	D	0.058872	0.999986	0.54805	D	2.67	0.78151	M	-2.59	0.89822	D	-2.93	0.61284	D	0.486	0.52029	0.253	0.86788	D	0.629	0.86985	D	9	0.8173064	0.80959	D	0.108877	0.78560	D	0.682	0.88348	0.814	0.92925	0.999896452263	0.99989	0.5181679192019256	0.51739	0.576694450929	0.53618	0.60534620285	0.53659	T	0.757609	0.93407	D	0.108683	0.65214	D	-0.0816607	0.64782	T	0.964553475379944	0.66993	D	0.714229	0.32652	T	0.39722496	0.60540	0.30491844	0.56520	0.39722496	0.60540	0.30491844	0.56519	-5.316	0.40101	T	0.30838737677218514	0.40616	0.271	0.54041	B	.;.	.;.	4.177712	0.62865	24.5	0.99707693567709055	0.81074	0.96474	0.69319	D	AEFI	0.544154	0.55919	D	0.285675610912907	0.55421	3.706261	0.230980790095606	0.51573	3.338813	0.163765464656093	0.17633	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.98	3.98	0.45383	4.414000	0.59555	4.842000	0.45294	0.366000	0.20181	1.000000	0.71638	1.000000	0.68203	0.561000	0.30436	0.0:0.1041:0.0:0.8959	7.169	0.24885	687	0.59234	3-beta hydroxysteroid dehydrogenase/isomerase;3-beta hydroxysteroid dehydrogenase/isomerase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1472.43	33	chr1	119422169	.	T	C	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-2.243;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1338	9	0	1	0
chr1	119743997	119743997	C	A	exonic	PHGDH	.	nonsynonymous SNV	PHGDH:NM_006623:exon12:c.C1559A:p.A520E	Neu-Laxova syndrome 1, Autosomal recessive;Phosphoglycerate dehydrogenase deficiency, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	718144	Inborn_genetic_diseases|PHGDH_deficiency|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011152,MedGen:C1866174,OMIM:601815,Orphanet:79351|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.379	0.0486002953822	0.0012	0.000399361	0.0009	0.0013	0.0010	0	0	0.0011	0.0011	0.0007	0.0008861	137	154602	rs151275800	0.0007	0.0007	0.0007	0.0007	0.0125	0.0007	0.0006	0.0102	0.0093	0.0011	0.0016	0.0069	0	0	0.0125	0.0004	0.0015	0.0011	0.0010	0.0010	0.0008	0.0012	0.0031	0.0009	0.0008	0.0024	0.0022	0.0008	0	0.0031	0.0075	0	0	0.0204	0.0004	0.0028	0.0006	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.566532	0.11282	N	0.828739	1	0.08975	N	1.04	0.26193	L	.	.	.	.	.	.	.	.	-0.8318	0.53185	T	0.234	0.60026	T	10	0.006540984	0.00148	T	0.049	0.63443	D	.	.	.	.	.	.	0.6366318522980537	0.63597	.	.	0.245699360967	0.03328	T	0.349448	0.71730	T	-0.269329	0.11832	T	-0.184276	0.56125	T	0.00205499541875495	0.00021	T	0.606339	0.22935	T	0.10596267	0.25054	0.12344998	0.29768	0.08888882	0.20750	0.12371422	0.29829	-3.725	0.19688	T	0.15874933436553146	0.19257	0.11	0.21201	B	.;.;.;.	.;.;.;.	1.436049	0.18546	13.80	0.92638486417996646	0.22111	0.16378	0.19361	N	AEFDGBHCI	0.393475	0.47110	N	-0.986973232252806	0.08881	0.4181502	-0.933380390494312	0.11309	0.5753723	0.999999769944465	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.81	2.93	0.33092	0.593000	0.23700	1.025000	0.23435	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.851000	0.40252	0.1652:0.6653:0.0:0.1696	5.167	0.14419	755	0.51144	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.016304	0.014620	0.000000	0.008621	0.000000	0.011364	0.05	505.43	33	chr1	119743997	.	C	A	505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.103;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-0.97;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	9	0	1	0
chr1	119755490	119755490	G	C	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon5:c.C998G:p.S333C,HMGCS2:NM_005518:exon6:c.C1124G:p.S375C	HMG-CoA synthase-2 deficiency, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	276465	not_provided|3-hydroxy-3-methylglutaryl-CoA_synthase_deficiency|not_specified	MedGen:C3661900|MONDO:MONDO:0011614,MedGen:C2751532,OMIM:605911,Orphanet:35701|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.578	.	0.0004	0.00399361	0.0019	0.0002	0.0003	0	0	0.0002	0.0011	0.0127	0.0016753	259	154602	rs151328418	0.0010	0.0010	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	0.0002	8.944e-05	7.652e-05	2.519e-05	0	0.0026	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0009	0.0141	0.0005	0.0005	0.0114	0.0104	7.219e-05	0	0.0002	0	0	9.42e-05	0	0.0003	0.0009	0.0141	0.011	0.55530	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.001595	0.38554	N	0.185657	0.999968	0.52935	D	2.23	0.63091	M	-1.17	0.78199	T	-2.28	0.50830	N	0.864	0.86404	0.076	0.83737	D	0.542	0.83122	D	10	0.013461292	0.00285	T	.	.	.	0.578	0.82968	.	.	0.914753015564	0.91389	0.47170183242617564	0.47089	0.509296270345	0.49072	0.528510212898	0.42824	T	0.541205	0.84295	D	-0.137979	0.30211	T	0.0400577	0.72932	D	0.0623311034081158	0.07531	T	0.854615	0.54143	D	0.6254988	0.74057	0.3769495	0.62805	0.57394576	0.71278	0.4756891	0.69618	-9.718	0.72699	D	0.24168275128639305	0.32738	0.171	0.38080	B	.;.	.;.	4.130297	0.61802	24.4	0.98637468825228192	0.44001	0.99315	0.94380	D	AEFGBI	0.972460	0.99427	D	0.730189148890773	0.81611	7.563106	0.679394563703988	0.80818	7.383954	0.999999999996283	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	5.57	0.84021	9.401000	0.96640	8.246000	0.76856	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	17.401	0.87350	786	0.46839	Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1412.43	33	chr1	119755490	.	G	C	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.948;DP=450;ExcessHet=0;FS=2.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.487;SOR=0.951	GT:AD:DP:GQ:PL	0/1:75,59:134:99:1424,0,1831	9	0	1	0
chr1	119764542	119764542	G	T	exonic	HMGCS2	.	nonsynonymous SNV	HMGCS2:NM_001166107:exon2:c.C189A:p.F63L,HMGCS2:NM_005518:exon2:c.C189A:p.F63L	HMG-CoA synthase-2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.0457106978412	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs758019802	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.013	0.63109	D	0.997	0.70673	D	0.943	0.67921	D	0.000160	0.49130	N	0.089011	0.999627	0.50225	D	2.535	0.73915	M	-2.34	0.87989	D	-5.11	0.83092	D	0.846	0.85449	0.239	0.86567	D	0.656	0.88038	D	10	0.8837979	0.87699	D	0.045711	0.62114	D	0.636	0.86078	0.691	0.82843	0.932709626313	0.93202	0.8342802113016511	0.83387	0.5538335945	0.52143	0.704160630703	0.67746	T	0.837318	0.96173	D	0.199698	0.73863	D	0.0645615	0.74548	D	0.9870285987854	0.77604	D	0.977102	0.91996	D	0.8621596	0.88250	0.79511756	0.87964	0.8621596	0.88252	0.79511756	0.87965	-10.736	0.78190	D	0.4241938193110277	0.51246	0.913	0.87226	P	.;.	.;.	3.408290	0.47264	22.4	0.9936384079206606	0.61113	0.93284	0.57806	D	AEFGBI	0.814148	0.73644	D	0.299277597196204	0.56111	3.775505	0.177155490280299	0.48598	3.073584	0.985088937955679	0.30826	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.72	0.121	0.13999	0.914000	0.28246	0.555000	0.19457	0.618000	0.50648	1.000000	0.71638	0.993000	0.31925	0.998000	0.85391	0.5054:0.0:0.4946:0.0	8.289	0.31108	803	0.44167	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1313.43	41	chr1	119764542	.	G	T	1313.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.785;DP=448;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.444;SOR=0.416	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1111	9	0	1	0
chr1	119841481	119841481	G	A	exonic	NBPF7	.	nonsynonymous SNV	NBPF7:NM_001047980:exon3:c.C458T:p.P153L	.	425	1081	16	0	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.014377	0.0084	0.0004	0.0008	0.0010	0	0.0001	0.0055	0.0592	0.0072832	1126	154602	rs183775485	0.0037	0.0037	0.0022	0.0053	0.0571	0.0037	0.0036	0.0558	0.0552	0.0005	0.0003	3.963e-05	0.0024	0	0.0013	9.113e-05	0.0042	0.0571	0.0021	0.0021	0.0012	0.0031	0.0628	0.0019	0.0019	0.0570	0.0547	0.0002	0	6.533e-05	0	0.0014	0	0	7.352e-05	0	0.0628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.026515	0.1	2550.14	34	chr1	119841481	.	G	A	2550.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.46;DP=541;ExcessHet=0.2348;FS=0.987;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=0.332;SOR=0.779	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	8	0	2	0
chr1	119967490	119967490	G	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon8:c.C1396A:p.Q466K,NOTCH2:NM_024408:exon8:c.C1396A:p.Q466K	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	138707	not_provided|Hajdu-Cheney_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0007057,MedGen:C0917715,OMIM:102500,Orphanet:955|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.490	0.0540084363161	0.0002	0.00159744	0.0012	0	0.0002	0	0	0.0012	0.0011	0.0039	0.0010608	164	154602	rs141935585	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0045	5.975e-05	0.0004	0.0119	7.559e-05	0	0.0024	0.0002	0.0016	0.0051	0.0006	0.0006	0.0006	0.0006	0.0046	0.0005	0.0005	0.0031	0.0026	2.405e-05	0	0.0001	0.0118	0	0	0.0068	0.0003	0.0014	0.0046	0.05	0.39575	D	0.165	0.30926	T	0.997	0.70673	D	0.992	0.80445	D	0.051790	0.22951	N	0.218587	1	0.81001	D	1.54	0.38927	L	-1.54	0.81640	D	-2.89	0.60665	D	0.275	0.31140	-0.2133	0.77327	T	0.470	0.79605	T	10	0.015744537	0.00331	T	0.054008	0.65690	D	0.490	0.77720	.	.	0.794429864761	0.79251	0.8310143140814363	0.83060	0.724846526864	0.62416	0.630724787712	0.57248	T	0.762811	0.93588	D	-0.260944	0.12791	T	-0.147338	0.59479	T	0.0276478020861148	0.01636	T	0.808919	0.45897	T	0.40501353	0.61078	0.21972813	0.46722	0.4237735	0.62342	0.24696754	0.50216	-6.274	0.48516	T	0.16123221376884006	0.19725	0.099	0.16713	B	.;.	.;.	2.909045	0.38583	20.8	0.99497629346689553	0.67859	0.97994	0.78718	D	AEFBI	0.693048	0.65251	D	0.182510541799373	0.50359	3.226697	0.29721799957346	0.55377	3.700765	0.999999999179144	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	4.78	0.60666	5.468000	0.66473	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8497:0.1503	14.919	0.70467	861	0.33516	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2350.43	38	chr1	119967490	.	G	T	2350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.664;DP=486;ExcessHet=0;FS=4.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.358;SOR=0.441	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	9	0	1	0
chr1	120005529	120005529	C	T	exonic	NOTCH2	.	nonsynonymous SNV	NOTCH2:NM_001200001:exon3:c.G215A:p.R72H,NOTCH2:NM_024408:exon3:c.G215A:p.R72H	Alagille syndrome 2, Autosomal dominant;Hajdu-Cheney syndrome, Autosomal dominant	1	1514	6	1	0	8	0.00263505	.	.	.	364427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0002	0.00519169	0.0035	0.0002	8.975e-05	0.0004	0	0.0001	0.0023	0.0241	0.0012679	33	26028	rs201838650	0.0015	0.0015	0.0009	0.0022	0.0243	0.0015	0.0015	0.0234	0.0230	0.0002	0.0001	7.659e-05	0.0004	0	0.0003	3.254e-05	0.0015	0.0243	0.0008	0.0008	0.0004	0.0012	0.0228	0.0007	0.0006	0.0193	0.0180	2.435e-05	0	0.0001	0	0.0002	0	0	4.441e-05	0.0010	0.0228	0.55	0.06585	T	0.172	0.34716	T	0.656	0.40834	P	0.253	0.39112	B	0.006021	0.32339	U	0.000000	1	0.08975	N	0.425	0.12573	N	0.42	0.56937	T	-0.79	0.21860	N	0.352	0.45047	-1.1083	0.03219	T	0.042	0.17910	T	10	0.015218258	0.00319	T	.	.	.	0.093	0.26882	.	.	0.586462102955	0.58320	0.38202645344111025	0.38117	1.42373316533	0.85663	0.414664924145	0.27102	T	0.54962	0.84726	D	-0.499828	0.00573	T	-0.472491	0.25248	T	0.0215367702644792	0.00857	T	0.889911	0.62289	D	0.044176515	0.07017	0.039038505	0.03907	0.048702903	0.08529	0.035759732	0.02889	-4.167	0.26272	T	.	.	0.074	0.22537	B	.;.;.	.;.;.	3.222316	0.43907	21.8	0.99500351401923359	0.67973	0.45660	0.27588	N	AEFBI	0.068410	0.13493	N	-0.0910239517460659	0.37786	2.20338	0.0427882768521916	0.41723	2.511555	4.26304549591561E-4	0.06935	0.706298	0.61202	0	0.60822	0.50512	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.4	3.51	0.39297	1.983000	0.40270	1.308000	0.25520	0.433000	0.20966	0.800000	0.29721	1.000000	0.68203	0.992000	0.67800	0.0:0.673:0.1581:0.1689	6.567	0.21715	889	0.27310	EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003727	0.000000	0.000000	0.008850	0.000000	0.000000	0.000000	0.008696	0.05	1200.43	33	chr1	120005529	.	C	T	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.2;DP=426;ExcessHet=0;FS=1.735;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.55;MQRankSum=-0.265;QD=11.65;ReadPosRankSum=0.633;SOR=0.91	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	9	0	1	0
chr1	120157055	120157055	G	A	exonic	SEC22B	.	stopgain	SEC22B:NM_004892:exon5:c.C631T:p.R211X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.334e-06	1.642e-05	1.043e-05	6.164e-06	3.363e-05	4.47e-06	3.27e-06	4.9e-06	2.44e-06	3.363e-05	0	0	0	0	0	7.853e-06	0	2.955e-05	6.572e-06	6.563e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.70175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.764922	0.96839	36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.557000	0.60491	6.672000	0.56282	0.479000	0.22080	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	.	.	.	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	920.43	34	chr1	120157055	.	G	A	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.112;DP=399;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.09;MQRankSum=-3.605;QD=10.83;ReadPosRankSum=0.404;SOR=0.955	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr1	120449241	120449241	C	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.C827T:p.A276V	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782789067	0.0006	0.0022	0.0006	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0001	6.761e-05	0.0002	0	3.756e-05	0.0005	0.0008	0.0004	0.0002	9.259e-05	0.0006	0.0001	8.128e-05	0.0004	5.562e-05	4.392e-05	7.395e-05	5.118e-05	2.425e-05	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	155.43	91	chr1	120449241	.	C	T	155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.835;DP=793;ExcessHet=0;FS=4.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.84;MQRankSum=-2.305;QD=0.55;ReadPosRankSum=2.19;SOR=0.518	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1589	9	0	1	0
chr1	120449333	120449333	A	G	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.A919G:p.R307G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325220470	5.623e-05	0.0001	3.412e-05	7.856e-05	0.0005	4.621e-05	4.247e-05	0.0003	0.0003	0	0.0001	0	0.0001	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.69e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	968.43	91	chr1	120449333	.	A	G	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.011;DP=980;ExcessHet=0;FS=29.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.36;MQRankSum=1.75;QD=4.02;ReadPosRankSum=1.6;SOR=1.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,120,1589:.	9	0	1	0
chr1	120449334	120449334	G	T	exonic	NBPF8	.	nonsynonymous SNV	NBPF8:NM_001037501:exon9:c.G920T:p.R307I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297465870	5.623e-05	0.0001	3.276e-05	7.994e-05	0.0005	4.621e-05	4.247e-05	0.0004	0.0003	0	0.0001	0	7.559e-05	0	0.0004	2.524e-05	6.64e-05	0.0005	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	9.691e-05	0.0008	0.0006	4.809e-05	0.0011	6.533e-05	0.0003	0.0008	0	0	0.0001	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	968.43	91	chr1	120449334	.	G	T	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.9;DP=979;ExcessHet=0;FS=29.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.42;MQRankSum=1.75;QD=4.02;ReadPosRankSum=1.87;SOR=1.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,120,1589:.	9	0	1	0
chr1	120809819	120809819	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.G502A:p.E168K	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335706926	0.0029	0.0032	0.0017	0.0041	0.0431	0.0028	0.0028	0.0420	0.0415	0.0005	0.0002	0.0001	0.0014	1.97e-05	0.0009	0.0002	0.0027	0.0431	0.0016	0.0015	0.0008	0.0024	0.0413	0.0014	0.0013	0.0364	0.0345	0.0002	0	7.404e-05	0	0.0022	0	0	6.383e-05	0.0005	0.0413	.	.	.	0.095	0.41239	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.21839	.	.	.	.	.	.	.	0.0061796606	0.00139	T	.	.	.	.	.	.	.	.	.	0.03486794252730376	0.03433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23570	B	.;.;.;.;.	.;.;.;.;.	1.558948	0.19974	14.53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356000	0.19918	-3.305000	0.02891	-0.588000	0.04664	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1487.43	33	chr1	120809819	.	G	A	1487.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.961;DP=653;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.12;MQRankSum=0.342;QD=4.55;ReadPosRankSum=0.058;SOR=0.81	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1307	9	0	1	0
chr1	120809823	120809823	A	G	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.A506G:p.D169G	.	439	1055	23	5	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403692093	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0004	0.0035	0.0034	0	0.0006	0.0003	0	0	0.0046	0.0001	0.0009	0.0039	0.0003	0.0003	0.0002	0.0004	0.0034	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0.0003	0.0002	0	0.0037	0.0003	0.0016	0.0034	.	.	.	0.039	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.31925	.	.	.	.	.	.	.	0.061215937	0.07641	T	.	.	.	.	.	.	.	.	.	0.03205359752714085	0.03153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.40952	B	.;.;.;.;.	.;.;.;.;.	0.622834	0.09910	6.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.086000	0.11198	-0.420000	0.09290	-0.536000	0.04945	0.094000	0.22667	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	7697.53	33	chr1	120809823	.	A	G	7697.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.388;DP=867;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.97;MQRankSum=4.33;QD=26.64;ReadPosRankSum=1.34;SOR=0.684	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1307	8	2	0	0
chr1	120816099	120816099	G	C	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon9:c.G1321C:p.D441H	.	585	934	3	0	0	3	0.00160342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782267140	0	1.044e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.58089	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.183	0.20528	-1.0610	0.11508	T	0.031	0.13461	T	8	0.045099497	0.03541	T	6.87E-4	0.00418	T	.	.	.	.	0.0401082797425	0.02173	0.05911318449030083	0.05851	.	.	.	.	.	.	.	.	-0.201154	0.20637	T	-0.52672	0.19615	T	0.0180034953860746	0.00525	T	0.867613	0.58002	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.48417	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.372530	0.30443	18.44	0.85241240877536939	0.15771	0.02757	0.07446	N	AEFBI	0.048833	0.08373	N	-1.23152176354792	0.04549	0.2055356	-1.33487542808804	0.03987	0.1871405	0.986366715889318	0.31051	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	0.394	-0.788	0.10387	0.921000	0.28338	.	.	0.221000	0.18078	0.810000	0.29852	.	.	0.022000	0.11911	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	200.17	37	chr1	120816099	.	G	C	200.17	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=237;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1116;MLEAC=1;MLEAF=0.05;MQ=26.01;MQRankSum=0.567;QD=7.7;ReadPosRankSum=0.312;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	9	0	1	0
chr1	120816099	120816099	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon9:c.G1321A:p.D441N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00097419413534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.56192	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.124	0.15328	-1.0188	0.24106	T	0.025	0.10777	T	8	0.048446983	0.04297	T	7.12E-4	0.00454	T	.	.	.	.	0.0297737177859	0.01360	0.020359854757450356	0.01988	.	.	.	.	.	.	.	.	-0.282378	0.10417	T	-0.643393	0.09424	T	0.0640454941201747	0.07789	T	0.682032	0.31835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.29004	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.805171	0.22940	15.82	0.9127789475015925	0.20537	0.01850	0.05723	N	AEFBI	0.042780	0.06680	N	-1.29728425791866	0.03708	0.1661352	-1.3836809281763	0.03425	0.1597536	0.986366715889318	0.31051	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	0.394	-0.788	0.10387	0.921000	0.28338	.	.	0.221000	0.18078	0.810000	0.29852	.	.	0.022000	0.11911	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	200.17	37	chr1	120816099	.	G	A	200.17	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=237;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1116;MLEAC=1;MLEAF=0.05;MQ=26.01;MQRankSum=0.567;QD=7.7;ReadPosRankSum=0.312;SOR=0.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	9	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	94.37	81	chr1	144435839	.	C	G	94.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.191;DP=651;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=32.81;MQRankSum=-2.458;QD=0.96;ReadPosRankSum=2.2;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,5:55:59:0|1:144435839_C_G:59,0,2077:144435839	7	0	2	1
chr1	144905899	144905899	C	T	exonic	SRGAP2B	.	nonsynonymous SNV	SRGAP2B:NM_001385227:exon5:c.G599A:p.R200Q,SRGAP2B:NM_001385228:exon5:c.G392A:p.R131Q,SRGAP2B:NM_001271870:exon6:c.G662A:p.R221Q,SRGAP2B:NM_001366280:exon6:c.G662A:p.R221Q,SRGAP2B:NM_001330684:exon7:c.G203A:p.R68Q,SRGAP2B:NM_001368324:exon7:c.G203A:p.R68Q,SRGAP2B:NM_001385226:exon7:c.G752A:p.R251Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242352697	7.459e-05	7.157e-05	7.327e-05	7.571e-05	0.0005	5.582e-05	5.034e-05	0.0003	0.0002	0	0	0	0.0005	0	0	1.265e-05	0.0005	0.0001	7.59e-05	7.269e-05	9.417e-05	5.666e-05	0.0012	4.165e-05	3.269e-05	0.0005	0.0004	8.251e-05	0	0	0.0003	0.0012	0	0	1.487e-05	0	0	.	.	.	0.077	0.46182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.41162	.	.	.	.	.	.	.	0.73665535	0.74667	D	.	.	.	.	.	.	.	.	.	0.5641967205493277	0.56346	.	.	.	.	.	0.170938	0.51887	T	.	.	.	.	.	.	.	.	.	0.99758	0.99030	D	.	.	.	.	.	.	.	.	-14.193	0.93667	D	.	.	0.753	0.79447	P	.;.;.	.;.;.	5.033087	0.83719	28.1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.735000	0.83874	7.663000	0.64347	0.284000	0.18682	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	.	.	.	614	0.66605	F-BAR domain;F-BAR domain;F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	122.45	20	chr1	144905899	.	C	T	122.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.28;DP=163;ExcessHet=0;FS=9.756;InbreedingCoeff=-0.0543;MLEAC=1;MLEAF=0.05;MQ=28.62;MQRankSum=3.35;QD=7.65;ReadPosRankSum=-0.283;SOR=1.864	GT:AD:DP:GQ:PL	0/0:13,0:13:20:0,20,379	9	0	1	0
chr1	145686561	145686561	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201325:exon3:c.G376A:p.G126S,PDZK1:NM_001201326:exon3:c.G376A:p.G126S,PDZK1:NM_001371359:exon3:c.G376A:p.G126S,PDZK1:NM_002614:exon4:c.G376A:p.G126S	.	473	1038	8	3	0	14	0.00669856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00496683770762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs148919265	0.0075	0.0075	0.0076	0.0073	0.0088	0.0073	0.0073	0.0086	0.0086	0.0012	0.0021	0.0010	0	0.0023	0.0036	0.0088	0.0058	0.0054	0.0049	0.0049	0.0052	0.0045	0.0086	0.0046	0.0045	0.0081	0.0078	0.0016	0.0011	0.0024	0.0009	0	0.0016	0	0.0086	0.0043	0.0037	0.499	0.09458	T	0.623	0.07368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.71	0.31205	T	-0.73	0.20576	N	0.154	0.15888	.	.	.	.	.	.	.	0.013003588	0.00277	T	.	.	.	.	.	.	.	.	.	0.7411778002221158	0.74063	.	.	.	.	.	0.112208	0.42830	T	.	.	.	.	.	.	.	.	.	0.780122	0.41468	T	.	.	.	.	.	.	.	.	-1.972	0.03343	T	.	.	0.076	0.06024	B	.;.;.;.	.;.;.;.	0.171449	0.05604	2.058	.	.	.	.	.	.	0.376490	0.46062	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.379000	0.43973	2.230000	0.31524	0.310000	0.19122	0.019000	0.19563	0.010000	0.20010	0.105000	0.18517	.	.	.	272	0.89337	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	781.43	34	chr1	145686561	.	C	T	781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.246;DP=406;ExcessHet=0;FS=2.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.82;MQRankSum=2.23;QD=8.59;ReadPosRankSum=0.999;SOR=0.612	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1262	9	0	1	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	864.97	118	chr1	145872713	.	C	G	864.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.812;DP=1235;ExcessHet=4.5998;FS=146.997;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.198;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:101,19:120:54:.:.:0,54,1938:.	4	0	6	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	816.97	118	chr1	145872714	.	C	G	816.97	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.066;DP=1182;ExcessHet=4.5998;FS=151.643;InbreedingCoeff=-0.4278;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.04;SOR=10.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:105,0:105:99:.:.:0,120,1800:.	4	0	6	0
chr1	145879291	145879291	C	T	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_144698:exon2:c.G137A:p.R46Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00575104945032	.	.	.	.	.	.	.	.	.	.	.	.	.	rs587648258	3.084e-05	3.147e-05	3.273e-05	2.893e-05	0.0004	2.351e-05	2.099e-05	0.0003	0.0002	6.01e-05	0.0001	0	0.0004	0	0.0002	1.44e-05	4.975e-05	0	0.0001	0.0001	7.714e-05	0.0001	0.0012	6.513e-05	5.324e-05	0.0005	0.0003	4.817e-05	0	0.0001	0	0.0012	0	0	8.823e-05	0	0	0.085	0.32769	T	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	0.52642	T	-0.3	0.11913	N	0.32	0.36043	.	.	.	.	.	.	.	0.22956496	0.39887	T	.	.	.	.	.	.	.	.	.	0.7630090900119706	0.76248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34116	B	.	.	3.326036	0.45769	22.2	.	.	.	.	.	.	0.482515	0.52335	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.135000	0.41735	1.398000	0.26172	0.599000	0.40250	0.982000	0.35529	0.783000	0.26796	0.811000	0.38219	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1362.43	85	chr1	145879291	.	C	T	1362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.784;DP=408;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.65;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	0	1	0
chr1	145898985	145898985	C	T	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon13:c.G1754A:p.R585Q,ITGA10:NM_001303040:exon14:c.G1790A:p.R597Q,ITGA10:NM_003637:exon17:c.G2183A:p.R728Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	3690601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.00204105273759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	5.445e-05	0.0002	0.0016	9.091e-05	8.598e-05	0.0014	0.0013	0	2.236e-05	0	5.038e-05	0	0.0002	2.698e-06	9.934e-05	0.0016	7.223e-05	7.874e-05	5.14e-05	9.399e-05	0.0017	3.968e-05	3.125e-05	0.0008	0.0006	0	0	6.533e-05	0	0	0	0	0	0.0009	0.0017	0.534	0.06935	T	0.388	0.15698	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	0.43672	T	0.65	0.02332	N	0.031	0.01203	.	.	.	.	.	.	.	0.031131297	0.01245	T	.	.	.	.	.	.	.	.	.	0.8904752034209013	0.89017	.	.	.	.	.	0.033471	0.22927	T	.	.	.	.	.	.	.	.	.	0.80392	0.45144	T	.	.	.	.	.	.	.	.	-2.764	0.07856	T	.	.	0.066	0.04932	B	.;.	.;.	1.423789	0.18411	13.72	.	.	.	.	.	.	0.041325	0.06266	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033000	0.13642	-1.652000	0.04982	0.596000	0.33519	0.226000	0.24601	0.000000	0.08366	0.949000	0.49496	.	.	.	934	0.15400	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2018.43	43	chr1	145898985	.	C	T	2018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.749;DP=538;ExcessHet=0;FS=1.194;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.611;SOR=0.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	9	0	1	0
chr1	145899064	145899064	C	T	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon13:c.G1675A:p.A559T,ITGA10:NM_001303040:exon14:c.G1711A:p.A571T,ITGA10:NM_003637:exon17:c.G2104A:p.A702T	.	423	1070	27	2	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00317430332807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35515885	0.0035	0.0035	0.0034	0.0036	0.0243	0.0034	0.0034	0.0210	0.0198	0.0045	0.0060	0.0215	5.038e-05	0.0011	0.0243	0.0031	0.0062	0.0011	0.0046	0.0047	0.0050	0.0042	0.0064	0.0044	0.0042	0.0054	0.0050	0.0044	0	0.0064	0.0242	0.0002	0.0011	0.0272	0.0043	0.0104	0.0006	0.074	0.34621	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.50192	T	-1.48	0.36189	N	0.137	0.14338	.	.	.	.	.	.	.	0.012380809	0.00266	T	.	.	.	.	.	.	.	.	.	0.9765553922096653	0.97645	.	.	.	.	.	0.056132	0.30201	T	.	.	.	.	.	.	.	.	.	0.875312	0.58632	D	.	.	.	.	.	.	.	.	-9.059	0.68121	D	.	.	0.141	0.30920	B	.;.	.;.	3.764463	0.54031	23.4	.	.	.	.	.	.	0.225467	0.34955	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.890000	0.48308	7.593000	0.61311	0.596000	0.33519	0.990000	0.36992	1.000000	0.68203	0.710000	0.34452	.	.	.	934	0.15400	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1823.43	154	chr1	145899064	.	C	T	1823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=621;ExcessHet=0;FS=0.598;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=2.05;SOR=0.625	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	9	0	1	0
chr1	145901662	145901662	A	G	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon8:c.T868C:p.Y290H,ITGA10:NM_001303040:exon9:c.T904C:p.Y302H,ITGA10:NM_003637:exon12:c.T1297C:p.Y433H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.00177112488701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.98	0.42122	T	-4.86	0.81187	D	0.931	0.93959	.	.	.	.	.	.	.	0.87554693	0.86843	D	.	.	.	.	.	.	.	.	.	0.9844711067584849	0.98440	.	.	.	.	.	0.616649	0.87926	D	.	.	.	.	.	.	.	.	.	0.89941	0.71398	D	.	.	.	.	.	.	.	.	-11.456	0.82100	D	.	.	0.975	0.90256	P	.;.	.;.	4.688912	0.75117	26.3	.	.	.	.	.	.	0.819705	0.74067	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.510000	0.90360	11.149000	0.87296	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	.	.	.	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	279.43	33	chr1	145901662	.	A	G	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.95;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=0.217;SOR=0.634	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,741	9	0	1	0
chr1	145907402	145907402	G	A	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_003637:exon2:c.C116T:p.A39V	.	430	1091	1	0	0	1	0.000458085	.	.	.	2436169	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00428286882632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372880825	8.551e-05	8.551e-05	6.806e-05	0.0001	0.0006	7.312e-05	6.815e-05	0.0005	0.0004	0	0	0.0016	2.519e-05	0	0.0003	1.259e-05	0.0002	0.0006	7.224e-05	7.218e-05	7.71e-05	6.716e-05	0.0006	3.969e-05	3.126e-05	0.0002	8.996e-05	0	0	0	0.0020	0	0	0	1.47e-05	0	0.0006	0.147	0.24955	T	0.083	0.41405	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.6	0.71662	T	-1.86	0.43524	N	0.46	0.49692	.	.	.	.	.	.	.	0.18663383	0.34137	T	.	.	.	.	.	.	.	.	.	0.9665454062817345	0.96642	.	.	.	.	.	0.138848	0.47256	T	.	.	.	.	.	.	.	.	.	0.863614	0.55989	D	.	.	.	.	.	.	.	.	-6.779	0.52403	T	.	.	0.233	0.46619	B	.	.	4.498736	0.70345	25.5	.	.	.	.	.	.	0.447427	0.50307	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917000	0.75604	9.807000	0.81726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	.	.	.	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1457.43	34	chr1	145907402	.	G	A	1457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.267;DP=468;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.327;SOR=0.596	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1241	9	0	1	0
chr1	145994976	145994976	C	G	exonic	TXNIP	.	nonsynonymous SNV	TXNIP:NM_001313972:exon3:c.G362C:p.G121A,TXNIP:NM_006472:exon4:c.G527C:p.G176A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.88	0.23884	T	-4.89	0.81431	D	0.924	0.92784	.	.	.	.	.	.	.	0.9178163	0.91140	D	.	.	.	.	.	.	.	.	.	0.9961424302840691	0.99612	.	.	.	.	.	0.408319	0.76368	T	.	.	.	.	.	.	.	.	.	0.944306	0.83579	D	.	.	.	.	.	.	.	.	-11.37	0.83767	D	.	.	0.985	0.92114	P	.;.	.;.	4.940421	0.81522	27.6	.	.	.	.	.	.	0.931454	0.92031	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.420000	0.73257	7.623000	0.62394	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	.	.	.	958	0.09170	Arrestin C-terminal-like domain|Arrestin C-terminal-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2936.43	34	chr1	145994976	.	C	G	2936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.652;DP=511;ExcessHet=0;FS=1.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.013;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	9	0	1	0
chr1	146019387	146019387	C	-	exonic	HJV	.	frameshift deletion	HJV:NM_145277:exon2:c.106delG:p.D36Tfs*97,HJV:NM_001379352:exon3:c.445delG:p.D149Tfs*97,HJV:NM_213653:exon3:c.445delG:p.D149Tfs*97	.	.	.	.	.	.	.	.	.	.	.	1318616	not_provided|Hemochromatosis_type_2A	MedGen:C3661900|MONDO:MONDO:0011216,MedGen:C1865614,OMIM:602390,Orphanet:79230	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	6.808e-06	2.751e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1756.39	34	chr1	146019386	.	TC	T	1756.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.658;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=0.164;SOR=0.749	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr1	146069593	146069593	G	A	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.C10253T:p.A3418V,NBPF10:NM_001302371:exon86:c.C10760T:p.A3587V	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000170635889396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.141e-06	5.478e-06	1.425e-06	2.859e-06	1.171e-05	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.418e-07	1.733e-05	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.23253	.	.	.	.	.	.	.	0.084786475	0.14246	T	.	.	.	.	.	.	.	.	.	0.007021671449392839	0.00669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.70353	0.31362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.65386	A	.;.	.;.	-0.181597	0.03186	0.524	.	.	.	.	.	.	0.021174	0.00915	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.041000	0.12036	-5.881000	0.01565	-0.842000	0.02783	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	230.43	47	chr1	146069593	.	G	A	230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.236;DP=766;ExcessHet=0;FS=9.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.1;MQRankSum=1.83;QD=1.62;ReadPosRankSum=0.316;SOR=1.747	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,99,1485	9	0	1	0
chr1	146069594	146069594	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon82:c.G10252A:p.A3418T,NBPF10:NM_001302371:exon86:c.G10759A:p.A3587T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000149198330203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.049e-05	9.243e-05	4.262e-05	7.842e-05	0.0005	5.003e-05	4.609e-05	0.0003	0.0003	0	0	0	0	0	0.0002	4.13e-05	1.727e-05	0.0005	8.16e-06	2.671e-05	0	1.681e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.029	0.54541	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.20129	.	.	.	.	.	.	.	0.083289355	0.13838	T	.	.	.	.	.	.	.	.	.	0.004073885125280471	0.00382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732227	0.34774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.58697	A	.;.	.;.	-0.410275	0.02174	0.213	.	.	.	.	.	.	0.019863	0.00729	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.178000	0.03203	-9.304000	0.00839	-1.327000	0.01220	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	258.43	47	chr1	146069594	.	C	T	258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.169;DP=704;ExcessHet=0;FS=0.828;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.38;MQRankSum=-4.727;QD=1.97;ReadPosRankSum=2.66;SOR=0.811	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,99,1485	9	0	1	0
chr1	146134258	146134258	G	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon9:c.C1314G:p.D438E,NBPF10:NM_001302371:exon9:c.C1314G:p.D438E	.	432	1070	19	1	0	21	0.00971772	.	.	.	3409357	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381967314	0.0049	0.0064	0.0049	0.0048	0.0088	0.0048	0.0047	0.0066	0.0058	0.0005	0.0046	0.0007	2.522e-05	0.0058	0.0088	0.0054	0.0046	0.0032	0.0042	0.0048	0.0042	0.0042	0.0058	0.0040	0.0039	0.0053	0.0051	0.0011	0	0.0051	0.0009	0.0002	0.0078	0.0102	0.0058	0.0074	0.0035	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	0.39781	T	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.011097819	0.00244	T	.	.	.	.	.	.	.	.	.	0.061565213573734096	0.06096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472753	0.14054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50490	B	.	.	-0.323164	0.02517	0.299	.	.	.	.	.	.	0.030114	0.02969	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.791000	0.04705	.	.	-0.696000	0.04083	0.005000	0.17040	.	.	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	717.43	54	chr1	146134258	.	G	C	717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.06;DP=565;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.28;MQRankSum=-9.777;QD=3.68;ReadPosRankSum=-1.128;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	9	0	1	0
chr1	146985717	146985717	A	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon26:c.A2852G:p.Y951C	.	471	1032	19	0	0	19	0.00912146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000163214244258	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431147745	0.0012	0.0035	0.0010	0.0014	0.0029	0.0011	0.0011	0.0023	0.0020	0.0029	0.0011	0.0033	0	0.0011	0.0020	0.0010	0.0010	0.0021	0.0002	0.0015	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0003	0	0.0002	0.0002	0	0.0001	0	0.0002	.	.	.	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.169	0.18649	-0.9519	0.40643	T	0.009	0.03183	T	4	0.08142331	0.13327	T	5.1E-4	0.00163	T	.	.	.	.	0.0716867268079	0.06686	0.00371447489682259	0.00347	.	.	.	.	.	.	.	.	-0.200108	0.20788	T	-0.525218	0.19768	T	0.0803811617759508	0.10036	T	0.957404	0.85901	D	0.08617099	0.20018	0.18917689	0.42250	0.08617099	0.20017	0.18917689	0.42249	-7.722	0.59161	D	.	.	0.376	0.60603	A	.;.;.;.;.	.;.;.;.;.	0.435955	0.08064	4.786	0.32174284863828506	0.01851	0.00255	0.01401	N	AEFI	0.031340	0.03327	N	-0.936343263324024	0.10001	0.4759034	-1.1901068516727	0.06074	0.2912888	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.562000	0.02260	-3.618000	0.02653	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	759	0.50631	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	76.43	34	chr1	146985717	.	A	G	76.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.04;DP=351;ExcessHet=0;FS=12.129;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=25.56;MQRankSum=-0.151;QD=2.55;ReadPosRankSum=1.32;SOR=3.611	GT:AD:DP:GQ:PL	0/1:24,6:30:88:88,0,629	9	0	1	0
chr1	146994431	146994431	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4230G:p.D1410E	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0013438849078	.	0.000998403	0.0015	0.0001	0.0003	0	0	0.0003	0.0012	0.0081	0.0010479	162	154602	rs587610532	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	5.985e-05	4.473e-05	3.827e-05	0	0	0.0015	0.0002	0.0005	0.0065	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	7.267e-05	0	0	0	0.0002	0	0	0.0002	0	0.0058	.	.	.	0.032	0.54541	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.16725	-0.9866	0.33445	T	0.014	0.05369	T	6	0.0059071183	0.00132	T	0.001344	0.01910	T	.	.	.	.	0.132336055621	0.12781	4.0613534839188605E-4	0.00037	.	.	.	.	.	0.07846	0.35896	T	-0.242254	0.15062	T	-0.585758	0.14035	T	0.0435956033519497	0.04346	T	0.888511	0.73561	D	0.13349986	0.31048	0.103441626	0.24820	0.13349986	0.31048	0.103441626	0.24820	-5.249	0.39435	T	.	.	0.366	0.57616	A	.;.;.;.;.;.	.;.;.;.;.;.	1.093268	0.14769	11.31	0.9579767046672597	0.27849	0.01602	0.05196	N	AEFHCI	0.036093	0.04755	N	-0.677581902665687	0.16662	0.8508681	-0.917115520137308	0.11690	0.5971268	1.42272786872639E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.59	0.59	0.16642	-0.310000	0.08175	-1.148000	0.06189	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	797	0.45241	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2664.43	85	chr1	146994431	.	C	G	2664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=803;ExcessHet=0;FS=2.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.53;MQRankSum=0.127;QD=10.62;ReadPosRankSum=-1.93;SOR=0.858	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	9	0	1	0
chr1	146994534	146994534	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4333G:p.L1445V	.	439	995	80	8	0	96	0.0460211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00878594	0.0133	0.0008	0.0125	0	0.0008	0.0115	0.0275	0.0385	0.0105367	1629	154602	rs200424287	0.0097	0.0097	0.0089	0.0105	0.0367	0.0096	0.0095	0.0320	0.0301	0.0017	0.0071	0.0172	0	0.0012	0.0367	0.0087	0.0129	0.0303	0.0070	0.0070	0.0067	0.0073	0.0296	0.0066	0.0065	0.0256	0.0241	0.0012	0	0.0057	0.0208	0	0.0007	0.0136	0.0098	0.0130	0.0296	.	.	.	0.04	0.53072	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.25867	-0.9640	0.38409	T	0.008	0.02968	T	6	0.0031640828	0.00053	T	.	.	.	.	.	.	.	.	.	1.2685876947599533E-4	0.00011	.	.	.	.	.	0.022672	0.17437	T	-0.596757	0.00153	T	-0.603517	0.12517	T	0.00373065755183608	0.00040	T	0.717528	0.33152	T	0.070765465	0.15614	0.07999147	0.18057	0.070765465	0.15614	0.07999147	0.18056	-3.886	0.22092	T	.	.	0.242	0.47600	B	.;.;.;.;.;.	.;.;.;.;.;.	0.664702	0.10331	7.061	0.74286934923283787	0.10639	0.12687	0.17419	N	AEFCI	0.077979	0.15723	N	-0.49473663388212	0.22253	1.186899	-0.71056478873505	0.16698	0.884545	1.28053174850038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.429	0.429	0.15721	0.830000	0.27115	-4.642000	0.02055	-0.678000	0.04252	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	803	0.44167	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5762.14	143	chr1	146994534	.	C	G	5762.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.39;DP=835;ExcessHet=0.2348;FS=0.795;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.43;MQRankSum=7.59;QD=15.08;ReadPosRankSum=0.205;SOR=0.743	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,99,1485	8	0	2	0
chr1	147908392	147908392	C	T	exonic	GJA8	.	nonsynonymous SNV	GJA8:NM_005267:exon2:c.C437T:p.T146I	Cataract 1, multiple types, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.760	0.590691000881	.	0.000399361	3.296e-05	0	8.642e-05	0	0.0002	0	0	0.0001	3.88e-05	6	154602	rs200110674	2.463e-05	2.463e-05	1.225e-05	3.713e-05	0.0002	1.803e-05	1.6e-05	0.0001	9.45e-05	0	0	0	0	0.0002	0	8.093e-06	0	0.0002	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0002	1.26e-05	7.97e-06	.	.	0	0	6.532e-05	0	0	0.0003	0	0	0	0.0002	0.003	0.68238	D	0.023	0.57104	D	0.999	0.77913	D	0.953	0.69275	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.1	0.28011	L	-4.5	0.97650	D	-2.95	0.61580	D	0.526	0.55540	1.054	0.98198	D	0.927	0.97604	D	10	0.5980559	0.66754	D	0.590691	0.96363	D	0.760	0.91837	.	.	0.905830307638	0.90489	0.8817680950635441	0.88144	.	.	0.741170525551	0.73145	T	0.893288	0.97849	D	0.0471921	0.57980	T	0.0666803	0.74689	D	0.34443318988117	0.26799	T	0.560744	0.19617	T	0.40541875	0.61106	0.45662418	0.68418	0.40541875	0.61106	0.45662418	0.68418	-7.676	0.58841	D	0.6012892887395832	0.66833	0.294	0.52491	B	.	.	3.915815	0.57135	23.8	0.99567199205755441	0.72136	0.91682	0.54040	D	AEFDBCI	0.781280	0.71291	D	0.420074872808369	0.62526	4.469976	0.378055389599786	0.60214	4.206572	0.999945564847389	0.47345	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.06	4.15	0.47978	6.110000	0.71213	3.984000	0.40930	-0.233000	0.07663	1.000000	0.71638	0.968000	0.29604	0.978000	0.57271	0.0:0.9247:0.0:0.0753	13.695	0.62052	952	0.10565	Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2316.43	33	chr1	147908392	.	C	T	2316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.629;DP=498;ExcessHet=0;FS=1.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.098;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1044	9	0	1	0
chr1	147908652	147908652	C	T	exonic	GJA8	.	nonsynonymous SNV	GJA8:NM_005267:exon2:c.C697T:p.R233W	Cataract 1, multiple types, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.294019697902	0.0002	0.000199681	0.0001	0	0.0007	0	0	2.998e-05	0	0.0002	9.7e-05	15	154602	rs140512440	5.952e-05	5.951e-05	6.126e-05	5.775e-05	0.0005	4.883e-05	4.561e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0003	3.867e-05	0.0001	0.0001	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0002	1.714e-05	1.129e-05	4.88e-06	1.83e-06	0	0	6.538e-05	0	0	0	0	2.94e-05	0.0009	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.936	0.67150	D	0.000007	0.62929	D	0.065730	0.999997	0.58761	D	2.045	0.56016	M	-4.56	0.97772	D	-2.26	0.50502	N	0.698	0.70263	1.062	0.98396	D	0.907	0.96932	D	10	0.7287819	0.74154	D	0.29402	0.90660	D	0.690	0.88726	.	.	0.92797645703	0.92724	0.860726395076712	0.86036	.	.	0.451628297567	0.32167	T	0.667243	0.90083	D	0.0264538	0.55249	T	0.162133	0.80936	D	0.339203149080276	0.26592	T	0.89951	0.64815	D	0.3365709	0.56005	0.37050173	0.62298	0.3365709	0.56005	0.37050173	0.62298	-5.668	0.43408	T	0.3295728582200184	0.42763	0.099	0.16626	B	.	.	4.530834	0.71121	25.6	0.99877832547744616	0.95491	0.98995	0.89700	D	AEFDBI	0.908584	0.86409	D	0.351339474185347	0.58810	4.055636	0.29695467454901	0.55361	3.699242	0.9999994761575	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	4.4	0.52402	4.962000	0.63395	2.677000	0.33989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.800000	0.37734	0.0:1.0:0.0:0.0	17.139	0.86625	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2480.43	33	chr1	147908652	.	C	T	2480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.76;DP=491;ExcessHet=0;FS=4.353;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-1.651;SOR=1.038	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1044	9	0	1	0
chr1	147938751	147938751	C	T	exonic	GPR89B	.	nonsynonymous SNV	GPR89B:NM_001350180:exon3:c.C140T:p.T47M,GPR89B:NM_016334:exon3:c.C140T:p.T47M,GPR89B:NM_001350181:exon4:c.C65T:p.T22M,GPR89B:NM_001350182:exon4:c.C65T:p.T22M	.	.	.	.	.	.	.	.	.	.	.	2401302	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.240	0.00583877874165	7.7e-05	.	0.0008	0.0001	0.0001	0	0.0003	0.0014	0	7.95e-05	.	.	.	rs375851990	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0	0.0002	0.0013	2.54e-05	0.0004	0.0002	0.0007	0.0005	3.507e-05	0.0005	0.0005	0.0004	0.0006	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0.0033	0	0.0009	0	0.0002	0	0.0009	0	0	0.003	0.68238	D	0.109	0.37449	T	.	.	.	.	.	.	0.000037	0.55875	D	0.119636	1	0.81001	D	.	.	.	.	.	.	-4.47	0.77881	D	0.75	0.74918	-0.7545	0.57699	T	0.180	0.52690	T	8	0.06371182	0.08341	T	0.005839	0.15191	T	0.240	0.54500	.	.	0.102598925029	0.09809	0.7418395535122155	0.74129	2.0454015372	0.94308	0.721824109554	0.70312	T	0.161621	0.50596	T	-0.103123	0.35906	T	0.0227461	0.71807	D	0.19192826582253	0.19958	T	0.874313	0.58483	D	0.13305932	0.30961	0.19156146	0.42621	0.13305932	0.30961	0.19156146	0.42621	-8.715	0.65844	D	.	.	0.307	0.71750	B	.;.	.;.	4.411710	0.68252	25.2	0.99473268304088258	0.66472	0.88368	0.48264	D	AEFGI	0.415828	0.48453	N	0.0436599737566407	0.43851	2.670067	-0.00133421225437338	0.39655	2.354578	0.082111391894626	0.15892	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.25	3.34	0.37357	6.016000	0.70451	2.260000	0.31754	-1.235000	0.01322	1.000000	0.71638	0.979000	0.30280	0.069000	0.16583	0.0:0.9105:0.0:0.0895	11.905	0.51990	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000543	0.000000	0.000000	0.000000	0.000000	0.000000	0.003571	0.000000	0.05	1344.43	34	chr1	147938751	.	C	T	1344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=411;ExcessHet=0;FS=3.844;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.34;MQRankSum=-2.522;QD=13.44;ReadPosRankSum=1.23;SOR=0.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	9	0	1	0
chr1	148117694	148117694	T	C	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon11:c.A1184G:p.N395S,NBPF11:NM_001385470:exon11:c.A1184G:p.N395S,NBPF11:NM_001385477:exon11:c.A959G:p.N320S,NBPF11:NM_001385480:exon11:c.A959G:p.N320S,NBPF11:NM_001101663:exon12:c.A1184G:p.N395S,NBPF11:NM_001385469:exon12:c.A1184G:p.N395S,NBPF11:NM_001385475:exon12:c.A1184G:p.N395S,NBPF11:NM_001385479:exon12:c.A959G:p.N320S,NBPF11:NM_183372:exon12:c.A1184G:p.N395S,NBPF11:NM_001385471:exon13:c.A1184G:p.N395S,NBPF11:NM_001385474:exon13:c.A1184G:p.N395S,NBPF11:NM_001385478:exon13:c.A959G:p.N320S,NBPF11:NM_001385472:exon14:c.A1184G:p.N395S,NBPF11:NM_001385473:exon14:c.A1184G:p.N395S,NBPF11:NM_001385476:exon14:c.A1184G:p.N395S	.	736	780	6	0	0	6	0.00383142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000516502707967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355498339	8.823e-06	0.0001	4.669e-06	1.254e-05	0.0002	2.06e-06	1.39e-06	2.88e-05	1.201e-05	0.0002	0	0	3.212e-05	0	0	3.691e-06	0	0	0.0004	0.0015	0.0005	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0	0	0.0002	0	0	5.109e-05	0.0006	0	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.62	0.41497	L	.	.	.	.	.	.	0.069	0.04426	-0.9845	0.33951	T	0.007	0.02558	T	8	0.08626592	0.14647	T	0.001028	0.01144	T	.	.	.	.	0.438701194649	0.43488	0.009462545994910832	0.00909	.	.	.	.	.	0.192754	0.54800	T	-0.22476	0.17349	T	-0.560628	0.16319	T	0.138356238589353	0.16132	T	0.414459	0.10821	T	0.059404626	0.12068	0.08127603	0.18457	0.059404626	0.12068	0.08127603	0.18457	-8.742	0.66021	D	.	.	0.103	0.29806	B	.;.;.;.	.;.;.;.	-0.086864	0.03718	0.764	0.19961925675828007	0.00697	0.00063	0.00458	N	AEFI	0.026487	0.01998	N	-1.02295796950048	0.08129	0.3800761	-1.33272578966305	0.04014	0.1884419	3.60146663870197E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.118	-0.237	0.12417	-4.286000	0.00296	-20.000000	0.00162	-1.968000	0.00471	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	48.61	23	chr1	148117694	.	T	C	48.61	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.51;DP=158;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1293;MLEAC=2;MLEAF=0.1;MQ=25.26;MQRankSum=-1.753;QD=1.52;ReadPosRankSum=-0.748;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,196:.	8	0	2	0
chr1	148120681	148120681	C	T	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon9:c.G808A:p.V270I,NBPF11:NM_001385470:exon9:c.G808A:p.V270I,NBPF11:NM_001385477:exon9:c.G583A:p.V195I,NBPF11:NM_001385480:exon9:c.G583A:p.V195I,NBPF11:NM_001101663:exon10:c.G808A:p.V270I,NBPF11:NM_001385469:exon10:c.G808A:p.V270I,NBPF11:NM_001385475:exon10:c.G808A:p.V270I,NBPF11:NM_001385479:exon10:c.G583A:p.V195I,NBPF11:NM_183372:exon10:c.G808A:p.V270I,NBPF11:NM_001385471:exon11:c.G808A:p.V270I,NBPF11:NM_001385474:exon11:c.G808A:p.V270I,NBPF11:NM_001385478:exon11:c.G583A:p.V195I,NBPF11:NM_001385472:exon12:c.G808A:p.V270I,NBPF11:NM_001385473:exon12:c.G808A:p.V270I,NBPF11:NM_001385476:exon12:c.G808A:p.V270I	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00169904562949	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237737551	0.0004	0.0004	0.0003	0.0004	0.0021	0.0004	0.0003	0.0019	0.0018	0.0001	0.0002	0	0.0008	7.491e-05	0.0007	0.0003	0.0006	0.0021	0.0004	0.0004	0.0004	0.0004	0.0031	0.0003	0.0003	0.0019	0.0016	0.0002	0	0.0001	0	0.0031	0	0	0.0003	0.0005	0.0023	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.355	0.33814	L	.	.	.	.	.	.	0.108	0.09349	-0.9128	0.46505	T	0.004	0.01400	T	7	0.024328679	0.00665	T	0.001699	0.02830	T	.	.	0.129	0.03412	0.0551355673512	0.04727	0.007768515961441434	0.00741	.	.	.	.	.	0.009983	0.09054	T	-0.259042	0.13013	T	-0.609873	0.11996	T	0.13418101831985	0.15763	T	0.542646	0.18460	T	0.06716865	0.14520	0.08114281	0.18415	0.06716865	0.14520	0.08114281	0.18414	-3.455	0.15807	T	.	.	0.100	0.19357	B	.;.;.;.	.;.;.;.	-0.132671	0.03450	0.637	0.6027177137814862	0.06423	0.00067	0.00479	N	AEFI	0.022668	0.01163	N	-0.925877009486483	0.10239	0.4883756	-1.15243550706744	0.06724	0.3246325	1.13787496935436E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-2.145000	0.01382	-14.523000	0.00400	-0.801000	0.03157	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1242.43	34	chr1	148120681	.	C	T	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=477;ExcessHet=0;FS=10.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.02;MQRankSum=-10.17;QD=8.02;ReadPosRankSum=2.19;SOR=1.499	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	9	0	1	0
chr1	148123871	148123871	C	A	exonic	NBPF11	.	nonsynonymous SNV	NBPF11:NM_001385468:exon6:c.G475T:p.V159F,NBPF11:NM_001385470:exon6:c.G475T:p.V159F,NBPF11:NM_001385477:exon6:c.G250T:p.V84F,NBPF11:NM_001385480:exon6:c.G250T:p.V84F,NBPF11:NM_001101663:exon7:c.G475T:p.V159F,NBPF11:NM_001385469:exon7:c.G475T:p.V159F,NBPF11:NM_001385475:exon7:c.G475T:p.V159F,NBPF11:NM_001385479:exon7:c.G250T:p.V84F,NBPF11:NM_183372:exon7:c.G475T:p.V159F,NBPF11:NM_001385471:exon8:c.G475T:p.V159F,NBPF11:NM_001385474:exon8:c.G475T:p.V159F,NBPF11:NM_001385478:exon8:c.G250T:p.V84F,NBPF11:NM_001385472:exon9:c.G475T:p.V159F,NBPF11:NM_001385473:exon9:c.G475T:p.V159F,NBPF11:NM_001385476:exon9:c.G475T:p.V159F	.	422	1038	62	0	0	62	0.0289991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00142394010296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207133286	0.0052	0.0054	0.0047	0.0058	0.0281	0.0051	0.0051	0.0240	0.0224	0.0008	0.0030	0.0281	0	0.0004	0.0281	0.0043	0.0072	0.0159	0.0043	0.0044	0.0041	0.0044	0.0175	0.0040	0.0039	0.0144	0.0133	0.0006	0	0.0046	0.0290	0.0004	0.0002	0.0476	0.0050	0.0063	0.0175	.	.	.	0.146	0.45744	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	2.71	0.79292	M	.	.	.	.	.	.	0.153	0.15749	-0.9683	0.37551	T	0.057	0.23866	T	7	0.004335612	0.00088	T	0.001424	0.02113	T	.	.	0.117	0.02508	0.199424873507	0.19547	0.03541266956653438	0.03488	.	.	.	.	.	0.098663	0.40270	T	-0.0594101	0.42998	T	-0.323115	0.42231	T	0.0688986951738973	0.08496	T	0.561144	0.20320	T	0.13022043	0.30391	0.19046506	0.42451	0.13022043	0.30390	0.19046506	0.42450	-9.878	0.73178	D	.	.	0.181	0.47708	B	.;.;.;.	.;.;.;.	1.778462	0.22614	15.69	0.48853896195317942	0.04111	0.00265	0.01446	N	AEFI	0.043442	0.06869	N	-0.876222276605691	0.11410	0.550476	-1.00334385492625	0.09711	0.4847502	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	-0.060000	0.11669	-20.000000	0.00162	0.167000	0.17740	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	.	.	.	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	263.43	41	chr1	148123871	.	C	A	263.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.379;DP=341;ExcessHet=0;FS=3.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.25;MQRankSum=0.29;QD=7.53;ReadPosRankSum=0.957;SOR=1.409	GT:AD:DP:GQ:PL	0/0:30,0:30:72:0,72,1080	9	0	1	0
chr1	148533189	148533189	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon66:c.G8276C:p.R2759T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405098496	0.0001	8.16e-05	0.0001	0.0001	0.0004	0.0001	0.0001	4.019e-05	2.608e-05	0	0	0.0029	0	0	0.0004	3.793e-05	0.0005	0.0001	0.0001	0.0001	0.0001	8.418e-05	2.328e-05	5.788e-05	4.325e-05	.	.	0	0	0	0.0034	0	0	0	2.328e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.12	0.08106	T	.	.	.	0.265	0.40465	.	.	.	.	.	.	.	0.084970474	0.14297	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.941106	0.84101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.53518	B	.;.;.;.;.;.	.;.;.;.;.;.	0.692871	0.10613	7.318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.295000	0.08335	-2.136000	0.04160	0.200000	0.17917	0.904000	0.31524	0.000000	0.08366	0.028000	0.12845	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	169.46	2	chr1	148533189	.	C	G	169.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.18;DP=42;ExcessHet=0;FS=5.441;InbreedingCoeff=-0.1183;MLEAC=1;MLEAF=0.05;MQ=31.27;MQRankSum=-1.068;QD=24.21;ReadPosRankSum=0.366;SOR=2.225	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,68	9	0	1	0
chr1	148557530	148557530	T	C	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon35:c.A4460G:p.D1487G	.	495	1026	1	0	0	1	0.000487092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0004	0.0003	0.0006	0.0062	0.0004	0.0004	0.0057	0.0055	0	0	0	3.255e-05	0	0	5.82e-06	0.0003	0.0062	0.0002	0.0002	0.0002	0.0002	0.0069	0.0001	0.0001	0.0048	0.0041	0	0	0	0	0	0	0	0	0	0.0069	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.018124968	0.00392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.870213	0.61827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49226	B	.;.	.;.	1.609953	0.20572	14.81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758000	0.26113	0.236000	0.16249	0.319000	0.19345	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	982.43	34	chr1	148557530	.	T	C	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.218;DP=432;ExcessHet=0;FS=2.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.45;MQRankSum=-1.207;QD=7.62;ReadPosRankSum=0.562;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,928	9	0	1	0
chr1	148559817	148559817	C	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon32:c.G4198T:p.V1400F	.	470	1048	4	0	0	4	0.00190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00178027364514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404207004	0.0008	0.0009	0.0008	0.0009	0.0030	0.0008	0.0008	0.0026	0.0025	0.0001	0.0001	0	2.788e-05	1.899e-05	0.0005	0.0008	0.0010	0.0030	0.0004	0.0004	0.0005	0.0003	0.0014	0.0003	0.0003	0.0006	0.0004	6.869e-05	0	7.128e-05	0	0	0	0	0.0006	0.0015	0.0014	.	.	.	0.001	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.30347	.	.	.	.	.	.	.	0.09931323	0.18014	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753225	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.66871	A	.;.	.;.	0.769988	0.11396	8.011	.	.	.	.	.	.	0.024096	0.01439	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749000	0.25985	-2.486000	0.03695	0.146000	0.17681	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	996.43	35	chr1	148559817	.	C	A	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.966;DP=381;ExcessHet=0;FS=2.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.9;MQRankSum=0.662;QD=14.44;ReadPosRankSum=-1.363;SOR=1.055	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	9	0	1	0
chr1	148577219	148577219	C	G	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon14:c.G1990C:p.E664Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00150840756542	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386974827	1.296e-05	9.049e-06	1.605e-05	1.031e-05	1.915e-05	5.39e-06	3.46e-06	7.88e-06	5.52e-06	0	0	0	0	0	0	1.915e-05	3.386e-05	0	2.084e-05	1.976e-05	0	4.314e-05	0.0002	5.54e-06	2.54e-06	5.1e-06	1.91e-06	0	0	0	0	0	0	0	3.071e-05	0	0.0002	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.94	0.09728	T	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	0.072913855	0.10948	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.296156	0.09028	T	-0.663184	0.08053	T	0.0818734423207617	0.10226	T	0.744526	0.39759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.54012	B	.;.;.;.	.;.;.;.	0.982907	0.13607	10.14	0.98075069468308873	0.38062	0.00498	0.02351	N	AEFI	0.040375	0.05997	N	-0.801446166560038	0.13272	0.6527124	-1.0468353998989	0.08773	0.4329927	1.35326974368458E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	0.046875	0.06002	.	.	.	0.295000	0.18821	-0.220000	0.10772	0.289000	0.18753	0.002000	0.15269	0.007000	0.19602	0.002000	0.04165	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	234.43	27	chr1	148577219	.	C	G	234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.81;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.87;MQRankSum=-0.393;QD=14.65;ReadPosRankSum=1.2;SOR=0.458	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	9	0	1	0
chr1	148595576	148595576	C	A	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon1:c.G142T:p.A48S	.	463	1053	6	0	0	6	0.00284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263755885	0.0040	0.0046	0.0041	0.0039	0.0219	0.0039	0.0039	0.0205	0.0200	0.0219	0.0048	0.0005	0.0195	0.0006	0.0026	0.0033	0.0036	0.0011	0.0090	0.0095	0.0094	0.0086	0.0238	0.0086	0.0084	0.0225	0.0220	0.0238	0	0.0044	0.0009	0.0097	0.0002	0.0037	0.0037	0.0050	0.0004	.	.	.	0.026	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	.	.	.	0.113	0.22357	.	.	.	.	.	.	.	0.007470727	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523348	0.20399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.41783	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.377542	0.02298	0.242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.197000	0.09519	-0.348000	0.09765	-0.771000	0.03446	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	929	0.16858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	1295.43	.	chr1	148595576	.	C	A	1295.43	.	AC=2;AF=0.111;AN=18;DP=321;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=32.31;QD=26.99;SOR=2.03	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1182	8	1	0	1
chr1	148679517	148679518	GG	-	exonic	NOTCH2NLB	.	frameshift deletion	NOTCH2NLB:NM_001364007:exon1:c.17_18del:p.P6Rfs*27	.	298	1222	2	0	0	2	0.000817661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234415772	7.696e-05	0.0012	8.46e-05	6.912e-05	0.0007	6.28e-05	5.812e-05	0.0004	0.0003	0.0002	0	5.349e-05	0.0007	0.0001	0	5.205e-05	9.434e-05	0.0002	0.0003	0.0042	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0004	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	33.17	12	chr1	148679516	.	CGG	C	33.17	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.142;DP=53;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=54.92;MQRankSum=-1.644;QD=2.07;ReadPosRankSum=0.558;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,134	6	0	1	3
chr1	149027610	149027610	G	A	exonic	PDE4DIP	.	nonsynonymous SNV	PDE4DIP:NM_001350520:exon36:c.G7138A:p.E2380K,PDE4DIP:NM_001198834:exon40:c.G6652A:p.E2218K,PDE4DIP:NM_014644:exon40:c.G6652A:p.E2218K,PDE4DIP:NM_001350522:exon41:c.G6493A:p.E2165K,PDE4DIP:NM_001198832:exon42:c.G6334A:p.E2112K,PDE4DIP:NM_001350521:exon42:c.G6946A:p.E2316K,PDE4DIP:NM_001350523:exon42:c.G6331A:p.E2111K,PDE4DIP:NM_001377392:exon43:c.G7063A:p.E2355K,PDE4DIP:NM_001377393:exon43:c.G6520A:p.E2174K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.874e-06	6.158e-06	1.865e-05	0	1.144e-05	2.08e-06	1.4e-06	3.04e-06	8.4e-07	0	0	0	0	0	0	1.144e-05	3.916e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.51853	T	0.016	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.71	0.01655	T	-1.67	0.40468	N	0.4	0.45992	.	.	.	.	.	.	.	0.3101698	0.48497	T	.	.	.	.	.	.	.	.	.	0.6219760564125469	0.62130	.	.	.	.	.	0.12008	0.44206	T	.	.	.	.	.	.	.	.	.	0.777822	0.42989	T	.	.	.	.	.	.	.	.	-4.942	0.37045	T	.	.	0.150	0.33273	B	.;.;.;.;.	.;.;.;.;.	3.797223	0.54692	23.5	.	.	.	.	.	.	0.377230	0.46108	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.996000	0.56722	3.827000	0.39978	0.590000	0.31872	0.445000	0.26527	0.982000	0.30508	0.179000	0.21265	.	.	.	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	65.55	2	chr1	149027610	.	G	A	65.55	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.598;DP=23;ExcessHet=0;FS=0;InbreedingCoeff=-0.1707;MLEAC=1;MLEAF=0.05;MQ=25.7;MQRankSum=1.15;QD=10.92;ReadPosRankSum=1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,68	9	0	1	0
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C,NBPF9:NM_001277444:exon7:c.G958T:p.G320C	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	7396.95	178	chr1	149075685	.	C	A	7396.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=1.26;DP=3367;ExcessHet=7.0302;FS=5.633;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=47.89;MQRankSum=-6.342;QD=2.9;ReadPosRankSum=-2.292;SOR=1.254	GT:AD:DP:GQ:PL	0/1:319,49:368:99:258,0,8144	3	0	7	0
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C,NBPF9:NM_001277444:exon3:c.T206G:p.F69C	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	823.14	232	chr1	149080125	.	A	C	823.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.97;DP=1527;ExcessHet=0.2348;FS=1.567;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=35.95;MQRankSum=-1.631;QD=2.12;ReadPosRankSum=-0.641;SOR=0.814	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	8	0	2	0
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	44.43	91	chr1	149476000	.	C	A	44.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.47;DP=729;ExcessHet=0;FS=34.039;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.35;MQRankSum=-3.164;QD=0.44;ReadPosRankSum=-2.627;SOR=3.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1475:.	9	0	1	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	151.3	91	chr1	149476006	.	G	A	151.3	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.87;DP=868;ExcessHet=0.2348;FS=25.359;InbreedingCoeff=-0.1181;MLEAC=2;MLEAF=0.1;MQ=35.83;MQRankSum=-2.675;QD=0.56;ReadPosRankSum=-3.021;SOR=3.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1475:.	8	0	2	0
chr1	149480153	149480153	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon4:c.G505A:p.D169N	.	492	1028	2	0	0	2	0.000971817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00139915521415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392428854	0.0001	8.467e-05	8.865e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	0	0.0002	0	0	0	0	3.141e-05	0.0002	0.0009	3.44e-05	3.294e-05	1.341e-05	5.652e-05	0.0011	1.306e-05	8.31e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.194	0.21319	-0.8983	0.48165	T	0.003	0.01092	T	7	0.10662776	0.19768	T	0.001399	0.02062	T	.	.	0.13	0.03494	0.0401082797425	0.02173	.	.	.	.	0.570006608963	0.48679	T	0.026546	0.19622	T	-0.283243	0.10327	T	-0.644636	0.09334	T	0.265221042936845	0.23542	T	0.737426	0.35417	T	0.062510714	0.13064	0.08752906	0.20351	0.062510714	0.13064	0.08752906	0.20351	-4.548	0.31512	T	.	.	0.098	0.23113	B	.;.;.;.	.;.;.;.	1.326132	0.17306	13.09	0.97254530871457434	0.33061	0.00606	0.02697	N	AEFI	0.034243	0.04207	N	-0.729092651482331	0.15208	0.7643901	-0.974325723053326	0.10363	0.5215131	1.10942770519523E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	.	.	.	-1.174000	0.03214	-0.556000	0.08502	-0.898000	0.02344	0.071000	0.22100	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	870.43	33	chr1	149480153	.	G	A	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.563;DP=380;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=29.62;MQRankSum=0.787;QD=12.61;ReadPosRankSum=0.348;SOR=0.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1256	9	0	1	0
chr1	149488149	149488149	G	C	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon9:c.G1177C:p.E393Q	.	530	962	28	2	0	32	0.0163599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00060867098707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474159899	0.0034	0.0026	0.0020	0.0046	0.0225	0.0033	0.0032	0.0215	0.0211	0.0002	0.0014	0.0040	0	0.0002	0.0141	0.0010	0.0026	0.0225	0.0013	0.0014	0.0012	0.0015	0.0187	0.0012	0.0011	0.0152	0.0140	0.0002	0	0.0011	0.0054	0	0	0.0070	0.0010	0.0021	0.0187	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.123	0.14622	-1.0889	0.05718	T	0.035	0.15074	T	9	0.0548667	0.05907	T	6.09E-4	0.00289	T	.	.	0.821	0.93395	0.0666544352282	0.05500	.	.	.	.	0.57171189785	0.48920	T	0.014894	0.12595	T	-0.0565468	0.43446	T	-0.319002	0.42685	T	0.621665894985199	0.37274	D	0.722728	0.39577	T	0.046422713	0.07767	0.05308705	0.08876	0.046422713	0.07767	0.05308705	0.08875	-9.616	0.71579	D	.	.	0.245	0.47923	B	.;.	.;.	0.888687	0.12623	9.147	0.98128739072125104	0.38498	0.01707	0.05422	N	AEFI	0.030943	0.03210	N	-0.304474474754588	0.28978	1.602928	-0.640070078323218	0.18468	0.9866734	1.56385238301757E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	0.698	0.698	0.17247	0.194000	0.16941	-0.724000	0.07692	0.184000	0.17816	0.006000	0.17386	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.803	0.12670	.	.	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	338.15	23	chr1	149488149	.	G	C	338.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.7;DP=161;ExcessHet=0.2348;FS=6.1;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=37.89;MQRankSum=-0.552;QD=10.25;ReadPosRankSum=0.458;SOR=2.16	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,395	8	0	2	0
chr1	149784224	149784224	C	T	exonic	FCGR1A	.	stopgain	FCGR1A:NM_001378805:exon2:c.C253T:p.R85X,FCGR1A:NM_000566:exon3:c.C274T:p.R92X,FCGR1A:NM_001378804:exon3:c.C277T:p.R93X,FCGR1A:NM_001378806:exon3:c.C274T:p.R92X,FCGR1A:NM_001378807:exon3:c.C205T:p.R69X,FCGR1A:NM_001378808:exon3:c.C274T:p.R92X	.	549	957	15	1	0	17	0.00880373	.	.	.	29865	IGG_receptor_I,_phagocytic,_familial_deficiency_of|FCGR1A-related_disorder|not_provided	MedGen:C4016211|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0039	0.00379393	0.0053	0.0024	0.0031	0.0001	0.0008	0.0073	0	0.0051	0.0018826	49	26028	rs74315310	0.0060	0.0060	0.0060	0.0060	0.0071	0.0059	0.0059	0.0070	0.0069	0.0010	0.0031	0.0002	0.0001	0.0008	0.0039	0.0071	0.0050	0.0044	0.0039	0.0039	0.0042	0.0035	0.0065	0.0036	0.0035	0.0060	0.0058	0.0012	0.0033	0.0044	0	0.0002	0.0004	0	0.0065	0.0033	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	0.695922	0.06174	U	1.534420	0.365482	0.81001	A	.	.	.	.	.	.	.	.	.	0.506	0.53796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236812	0.77361	D	0.57	0.96224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.226777	0.87732	29.3	0.99636223221745535	0.76387	0.05200	0.11024	N	AEFBI	0.041883	0.06426	N	0.090000491387709	0.45997	2.847056	-0.259691889045464	0.29438	1.649333	0.987842867946595	0.31355	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.13	3.13	0.35090	0.368000	0.20132	0.770000	0.21388	-0.254000	0.07082	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	10.438	0.43636	556	0.71678	Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003067	0.008772	0.002755	0.004425	0.000000	0.000000	0.000000	0.000000	0.05	734.43	33	chr1	149784224	.	C	T	734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=374;ExcessHet=0;FS=7.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.38;MQRankSum=-1.254;QD=12.45;ReadPosRankSum=0.645;SOR=1.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	9	0	1	0
chr1	149936633	149936633	-	C	exonic	MTMR11	.	frameshift insertion	MTMR11:NM_001145862:exon1:c.14dupG:p.R6Pfs*23	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00259585	0.0020	0.0005	0.0026	0.0017	0	0.0039	0	0.0005	0.0001153	3	26028	rs587606143	0.0060	0.0058	0.0062	0.0057	0.0050	0.0059	0.0058	0.0049	0.0048	0.0005	0.0008	0.0007	0.0002	0.0533	0.0011	0.0050	0.0038	0.0005	0.0071	0.0072	0.0050	0.0093	0.0057	0.0067	0.0066	0.0052	0.0050	0.0007	0	0.0011	0.0014	0.0008	0.0591	0.0034	0.0057	0.0033	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	991.1	36	chr1	149936633	.	G	GC	991.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.424;DP=340;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.233;SOR=0.606	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,784	8	0	2	0
chr1	150157445	150157445	C	T	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_016274:exon5:c.C484T:p.H162Y	.	424	1097	1	0	0	1	0.000455581	.	.	.	3576757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00936936391692	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs782450928	4.652e-05	4.72e-05	4.765e-05	4.538e-05	5.486e-05	3.728e-05	3.412e-05	4.352e-05	3.944e-05	0	2.236e-05	0	2.519e-05	0	0	5.486e-05	8.281e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.025	0.47320	D	0.295	0.20680	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	0.999404	0.81001	D	1.63	0.41750	L	2.28	0.17271	T	-2.33	0.51646	N	0.414	0.45426	-1.1181	0.02455	T	0.031	0.13330	T	9	0.15335518	0.28948	T	0.009369	0.24577	T	0.054	0.15330	0.226	0.15109	0.043077524339	0.03247	0.3482261792157467	0.34736	0.767812265315	0.64609	0.76900190115	0.77275	T	0.197101	0.55367	T	-0.258039	0.13130	T	-0.525566	0.19733	T	0.367793053388596	0.27712	T	0.90141	0.65732	D	0.34777147	0.56893	0.29414722	0.55444	0.34777147	0.56893	0.29414722	0.55443	-11.344	0.81511	D	.	.	0.288	0.52018	B	.	.	4.414643	0.68328	25.2	0.99586145670173221	0.73336	0.84938	0.44034	D	AEFDBCIJ	0.441126	0.49940	N	0.0177727889513968	0.42662	2.574855	0.139429189966813	0.46586	2.902084	0.999999997480981	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.69	4.69	0.58546	3.803000	0.55264	7.603000	0.61629	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.719000	0.34739	0.0:1.0:0.0:0.0	17.138	0.86624	330	0.86467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1048.43	84	chr1	150157445	.	C	T	1048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.595;DP=404;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.16;SOR=0.724	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1530	9	0	1	0
chr1	150159129	150159129	G	A	exonic	PLEKHO1	.	nonsynonymous SNV	PLEKHO1:NM_001304723:exon5:c.G320A:p.R107Q,PLEKHO1:NM_001304724:exon5:c.G287A:p.R96Q,PLEKHO1:NM_001304722:exon6:c.G320A:p.R107Q,PLEKHO1:NM_016274:exon6:c.G836A:p.R279Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0066	0.00519169	0.0102	0.0021	0.0025	0.0001	0.0194	0.0116	0.0170	0.0160	0.0094307	1458	154602	rs41264971	0.0088	0.0088	0.0084	0.0092	0.0179	0.0087	0.0086	0.0172	0.0169	0.0009	0.0029	0.0022	0.0001	0.0215	0.0094	0.0085	0.0083	0.0179	0.0066	0.0066	0.0067	0.0065	0.0135	0.0063	0.0061	0.0109	0.0099	0.0016	0.0011	0.0021	0.0023	0	0.0193	0.0034	0.0091	0.0038	0.0135	0.054	0.47745	T	0.267	0.31225	T	0.905	0.49920	P	0.267	0.39770	B	0.014129	0.28625	N	0.351400	0.984405	0.40141	D	2.135	0.59519	M	0.72	0.50976	T	-1.43	0.35194	N	0.374	0.41557	-1.0613	0.11434	T	0.070	0.28577	T	10	0.0047944784	0.00101	T	.	.	.	0.075	0.21907	.	.	.	.	0.18990143602419438	0.18908	0.464578811842	0.45924	0.511497855186	0.40431	T	0.030915	0.44076	T	-0.406135	0.02109	T	-0.342536	0.40057	T	0.00607151602267701	0.00067	T	0.808919	0.46506	T	0.106724344	0.25235	0.06900925	0.14484	0.106724344	0.25235	0.06900925	0.14484	-3.939	0.22888	T	.	.	0.102	0.17869	B	.;.	.;.	3.784036	0.54430	23.5	0.99942678426939813	0.99848	0.83582	0.42690	D	ALL	0.714528	0.66698	D	0.357264008198067	0.59123	4.089313	0.408174213897655	0.62074	4.416803	0.99999999999741	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	3.396000	0.52309	11.733000	0.95036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.1598:0.8402:0.0	13.188	0.59118	330	0.86467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.010101	0.008152	0.005848	0.050000	0.000000	0.006098	0.022727	0.05	1216.43	89	chr1	150159129	.	G	A	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=416;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.522;SOR=0.843	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	9	0	1	0
chr1	150226675	150226675	-	CTTCAT	exonic	ANP32E	.	nonframeshift insertion	ANP32E:NM_001136478:exon4:c.490_491insATGAAG:p.E163_A164insDE,ANP32E:NM_001280560:exon4:c.447_448insATGAAG:p.K149_Q150insMK,ANP32E:NM_001136479:exon5:c.469_470insATGAAG:p.E156_A157insDE,ANP32E:NM_001280559:exon5:c.613_614insATGAAG:p.E204_A205insDE,ANP32E:NM_030920:exon5:c.613_614insATGAAG:p.E204_A205insDE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	9.612e-05	0	0	0	0.0003	0	0	0.0001229	19	154602	rs782472960	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	3.005e-05	2.237e-05	0	0	5.622e-05	0	0.0002	0.0002	1.162e-05	8.63e-05	8.538e-05	7.774e-05	9.528e-05	0.0002	5.006e-05	4e-05	9.095e-05	7.046e-05	4.851e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1840.39	35	chr1	150226675	.	G	GCTTCAT	1840.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.36;ReadPosRankSum=-0.595;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1040	9	0	1	0
chr1	150553051	150553051	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon5:c.C232T:p.L78F,ADAMTSL4:NM_001288608:exon5:c.C232T:p.L78F,ADAMTSL4:NM_001378596:exon5:c.C232T:p.L78F,ADAMTSL4:NM_019032:exon5:c.C232T:p.L78F,ADAMTSL4:NM_025008:exon5:c.C232T:p.L78F	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	276584	not_provided|Ectopia_lentis_et_pupillae|Ectopia_lentis_2,_isolated,_autosomal_recessive|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00747034602609	0.0003	0.000199681	0.0003	0	0.0003	0	0.0002	0.0003	0.0046	0.0001	0.0002458	38	154602	rs147688134	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0024	0.0021	8.961e-05	0.0004	3.827e-05	0	7.558e-05	0.0036	0.0002	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0008	0.0006	0	0	0.0012	0	0	9.414e-05	0	0.0005	0	0	0.266	0.18371	T	0.398	0.30045	T	0.986	0.63424	D	0.876	0.62825	P	.	.	.	.	1	0.08975	N	-0.2	0.04182	N	2.19	0.18724	T	-0.68	0.19933	N	0.208	0.34120	-1.0610	0.11508	T	0.025	0.10688	T	9	0.027524263	0.00897	T	0.00747	0.19819	T	0.042	0.11227	.	.	0.305086939656	0.30112	0.11978757738667244	0.11905	0.544725754754	0.51518	0.492609620094	0.37801	T	0.005817	0.05268	T	-0.546218	0.00307	T	-0.681832	0.06872	T	0.0371716211229922	0.03186	T	0.765223	0.39255	T	0.07674326	0.17375	0.06934588	0.14598	0.07674326	0.17375	0.06934588	0.14597	-3.218	0.12701	T	0.44589013935011	0.53057	0.077	0.16756	B	.;.;.;.	.;.;.;.	1.338480	0.17444	13.17	0.99179345625985427	0.54643	0.08901	0.14759	N	AEFDGBCI	0.077601	0.15639	N	-0.477931293276343	0.22805	1.220311	-0.666878272354097	0.17791	0.9475708	0.999999811847463	0.74766	0.608966	0.35542	0	0.550933	0.16991	0	0.584781	0.30282	0	0.505526	0.08623	0	.	.	3.02	2.09	0.26154	0.685000	0.25058	1.398000	0.26172	0.549000	0.26987	0.012000	0.18695	0.524000	0.25326	0.004000	0.06068	0.0:0.8352:0.0:0.1648	5.695	0.17120	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	384.43	35	chr1	150553051	.	C	T	384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.55;DP=347;ExcessHet=0;FS=1.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.14;SOR=0.839	GT:AD:DP:GQ:PL	0/1:26,16:42:99:396,0,655	9	0	1	0
chr1	150966240	150966240	C	A	exonic	CERS2	.	nonsynonymous SNV	CERS2:NM_022075:exon11:c.G1051T:p.G351W,CERS2:NM_181746:exon11:c.G1051T:p.G351W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0142710127594	.	.	.	.	.	.	.	.	.	.	1.94e-05	3	154602	.	8.915e-06	1.026e-05	8.19e-06	9.647e-06	4.67e-05	4.98e-06	3.83e-06	1.59e-05	9.35e-06	0	0	0	2.52e-05	0	0	6.301e-06	1.66e-05	4.67e-05	6.572e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.015	0.52492	D	0.016	0.60972	D	0.975	0.58077	D	0.782	0.57384	P	0.011671	0.29444	N	0.346312	0.999997	0.58761	D	0	0.06538	N	2.85	0.10578	T	-1.38	0.34198	N	0.371	0.41261	-1.0917	0.05254	T	0.094	0.35578	T	10	0.26894778	0.44417	T	0.014271	0.34274	T	0.168	0.42943	0.222	0.14518	0.151262610727	0.14761	0.2308002791553938	0.22995	1.3909633865	0.84999	0.53301602602	0.43460	T	0.347252	0.71540	T	-0.120892	0.32977	T	-0.41143	0.32060	T	0.806931845773586	0.46832	D	0.814119	0.46793	T	0.23180568	0.45958	0.17471574	0.39887	0.23180568	0.45958	0.17471574	0.39887	-8.252	0.62774	D	.	.	0.280	0.51271	B	.;.	.;.	4.665203	0.74508	26.2	0.99079217995267488	0.51930	0.97837	0.77499	D	AEFDBCI	0.926807	0.90850	D	0.741596633151981	0.82357	7.742458	0.761513791513941	0.87014	9.078339	0.999999999999997	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.54	5.54	0.82907	7.137000	0.76892	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.287	0.94064	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	774.43	37	chr1	150966240	.	C	A	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.652;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=2.07;SOR=0.718	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr1	150997338	150997338	-	GCT	exonic	MINDY1	.	nonframeshift insertion	MINDY1:NM_001376669:exon9:c.1199_1200insAGC:p.A400_G401insA,MINDY1:NM_001376670:exon9:c.1172_1173insAGC:p.A391_G392insA,MINDY1:NM_001376671:exon9:c.863_864insAGC:p.A288_G289insA,MINDY1:NM_001376672:exon9:c.860_861insAGC:p.A287_G288insA,MINDY1:NM_001376674:exon9:c.833_834insAGC:p.A278_G279insA,MINDY1:NM_001040217:exon10:c.932_933insAGC:p.A311_G312insA,MINDY1:NM_001163259:exon10:c.1073_1074insAGC:p.A358_G359insA,MINDY1:NM_001163260:exon10:c.932_933insAGC:p.A311_G312insA,MINDY1:NM_001376664:exon10:c.1361_1362insAGC:p.A454_G455insA,MINDY1:NM_001376665:exon10:c.1358_1359insAGC:p.A453_G454insA,MINDY1:NM_001376666:exon10:c.1334_1335insAGC:p.A445_G446insA,MINDY1:NM_001376667:exon10:c.1331_1332insAGC:p.A444_G445insA,MINDY1:NM_001376668:exon10:c.1331_1332insAGC:p.A444_G445insA,MINDY1:NM_001376673:exon10:c.860_861insAGC:p.A287_G288insA,MINDY1:NM_001163258:exon11:c.1502_1503insAGC:p.A501_G502insA,MINDY1:NM_001319998:exon11:c.1358_1359insAGC:p.A453_G454insA,MINDY1:NM_018379:exon11:c.1358_1359insAGC:p.A453_G454insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1717.39	35	chr1	150997338	.	G	GGCT	1717.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.666;DP=427;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.927;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	9	0	1	0
chr1	151168266	151168266	C	T	exonic	SCNM1;TNFAIP8L2-SCNM1	.	nonsynonymous SNV	TNFAIP8L2-SCNM1:NM_001204848:exon6:c.C416T:p.A139V,SCNM1:NM_001204856:exon6:c.C416T:p.A139V,SCNM1:NM_024041:exon6:c.C521T:p.A174V	.	425	1066	31	0	0	31	0.0143319	.	.	.	2809247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.034	0.0023350239851	0.0042	0.00319489	0.0042	0.0011	0.0016	0	0.0008	0.0051	0.0022	0.0079	0.0042237	653	154602	rs138637165	0.0054	0.0054	0.0054	0.0055	0.0109	0.0053	0.0053	0.0088	0.0080	0.0009	0.0023	0.0040	2.519e-05	0.0007	0.0109	0.0059	0.0051	0.0081	0.0036	0.0036	0.0037	0.0035	0.0101	0.0033	0.0032	0.0079	0.0071	0.0009	0	0.0042	0.0052	0	0.0004	0.0102	0.0053	0.0047	0.0101	0.306	0.18956	T	0.392	0.16914	T	0.005	0.12996	B	0.005	0.11217	B	0.112343	0.19361	N	0.517672	1	0.08975	N	2.05	0.56469	M	.	.	.	-0.96	0.25551	N	0.09	0.09066	-1.0303	0.20357	T	0.030	0.12892	T	9	0.0028794706	0.00046	T	0.002335	0.04507	T	0.034	0.08419	.	.	0.139678290688	0.13603	0.14622092655761348	0.14544	0.329677795498	0.35074	0.324216008186	0.14058	T	0.019554	0.15555	T	-0.540222	0.00334	T	-0.543077	0.17995	T	0.00682220094844182	0.00077	T	0.760924	0.38541	T	0.035497822	0.04190	0.035514936	0.02818	0.035497822	0.04190	0.035514936	0.02818	-3.908	0.22423	T	.	.	0.088	0.13737	B	.;.;.	.;.;.	1.910264	0.24259	16.33	0.9809805084394706	0.38245	0.19355	0.20628	N	AEFBI	0.105321	0.21047	N	-0.637466549262335	0.17826	0.9206538	-0.592145196668269	0.19696	1.057959	0.999720127749286	0.42220	0.719381	0.83141	0	0.723133	0.82719	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.5	2.43	0.28797	1.402000	0.34209	1.629000	0.27729	0.596000	0.33519	0.019000	0.19563	0.588000	0.25656	0.547000	0.30103	0.3234:0.5907:0.0:0.0859	6.349	0.20570	116	0.95299	.;.;.	.	.	.	.	rs138637165	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.000000	0.009511	0.008772	0.000000	0.000000	0.018293	0.007576	0.05	762.43	33	chr1	151168266	.	C	T	762.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.481;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-1.129;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	9	0	1	0
chr1	151171494	151171494	G	C	exonic	TMOD4	.	nonsynonymous SNV	TMOD4:NM_013353:exon7:c.C665G:p.A222G	.	427	1063	31	1	0	33	0.0152849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0300531549822	0.0042	0.00319489	0.0042	0.0011	0.0016	0	0.0008	0.0051	0.0022	0.0079	0.004269	660	154602	rs28730722	0.0054	0.0054	0.0054	0.0055	0.0109	0.0053	0.0053	0.0088	0.0080	0.0009	0.0023	0.0040	2.519e-05	0.0007	0.0109	0.0059	0.0051	0.0081	0.0036	0.0036	0.0037	0.0035	0.0101	0.0033	0.0032	0.0079	0.0071	0.0009	0	0.0042	0.0052	0	0.0003	0.0102	0.0053	0.0047	0.0101	0.19	0.21144	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.01387	B	0.001090	0.40303	N	0.286169	0.999951	0.19072	N	0.14	0.08730	N	-2.97	0.92007	D	-0.92	0.24676	N	0.06	0.03175	-0.6754	0.61584	T	0.297	0.66811	T	10	0.010505557	0.00233	T	0.030053	0.52447	D	0.231	0.53208	.	.	0.949542646765	0.94901	0.15439785008813325	0.15360	0.260443566416	0.28611	0.248093739152	0.03570	T	0.080112	0.36288	T	-0.423893	0.01616	T	-0.375979	0.36192	T	0.00660717084474392	0.00074	T	0.572743	0.20478	T	0.06913606	0.15121	0.1036353	0.24870	0.06913606	0.15121	0.1036353	0.24869	-2.016	0.03242	T	.	.	0.081	0.08033	B	.	.	2.116732	0.26944	17.29	0.98286162977844094	0.39907	0.72186	0.35342	D	AEFDBCI	0.147669	0.27139	N	-0.437877967492058	0.24153	1.302159	-0.237844959087075	0.30192	1.697849	0.999627288306964	0.41093	0.421363	0.06395	0	0.573116	0.20632	0	0.536957	0.11973	0	0.508809	0.08732	0	.	.	5.89	2.79	0.31792	1.668000	0.37097	5.650000	0.49179	0.676000	0.76740	0.787000	0.29557	1.000000	0.68203	0.986000	0.61781	0.0736:0.192:0.628:0.1064	7.425	0.26266	114	0.95383	.	.	.	.	.	rs28730722	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.009511	0.008772	0.000000	0.008621	0.018293	0.015152	0.05	2128.43	35	chr1	151171494	.	G	C	2128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.515;DP=492;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.464;SOR=0.589	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1327	9	0	1	0
chr1	151177011	151177011	A	G	exonic	VPS72	.	nonsynonymous SNV	VPS72:NM_001271087:exon6:c.T761C:p.V254A,VPS72:NM_005997:exon6:c.T728C:p.V243A	.	414	1077	31	0	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.009	0.00678914	0.0057	0.0169	0.0025	0	0.0008	0.0054	0.0039	0.0087	0.0054721	846	154602	rs78427992	0.0060	0.0059	0.0060	0.0059	0.0191	0.0058	0.0058	0.0178	0.0174	0.0191	0.0034	0.0040	2.542e-05	0.0007	0.0138	0.0059	0.0066	0.0081	0.0079	0.0080	0.0082	0.0077	0.0161	0.0076	0.0074	0.0151	0.0147	0.0161	0	0.0056	0.0052	0	0.0004	0.0136	0.0053	0.0095	0.0102	0.793	0.03175	T	0.752	0.04772	T	0.0	0.02946	B	0.0	0.01387	B	0.009899	0.30155	N	0.360258	1	0.08975	N	-1.32	0.00691	N	.	.	.	0.49	0.03824	N	0.025	0.02964	-0.9514	0.40730	T	0.010	0.03673	T	9	0.0037549734	0.00070	T	.	.	.	0.078	0.22779	.	.	0.0401082797425	0.02173	.	.	0.587943224786	0.54355	0.419013440609	0.27701	T	0.04423	0.26752	T	-0.656704	0.00066	T	-0.701807	0.05727	T	0.000186556837697736	0.00001	T	0.174683	0.01682	T	0.017079594	0.00244	0.024969399	0.00528	0.017079594	0.00244	0.024969399	0.00528	-2.255	0.09559	T	.	.	0.059	0.01934	B	.;.	.;.	0.374732	0.07468	4.107	0.46410719542778284	0.03715	0.00333	0.01736	N	AEFDGBI	0.030784	0.03164	N	-1.16472721364999	0.05541	0.2529068	-1.04608233724713	0.08789	0.4338623	0.999872400141814	0.44625	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.41	4.42	0.52775	2.076000	0.41172	2.588000	0.33452	-0.753000	0.03565	0.357000	0.25817	0.353000	0.24482	0.009000	0.08673	0.2056:0.0:0.7944:0.0	6.894	0.23428	112	0.95438	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013131	0.000000	0.013587	0.023392	0.000000	0.008621	0.018405	0.015152	0.05	721.43	39	chr1	151177011	.	A	G	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=397;ExcessHet=0;FS=6.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.259;SOR=1.412	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1060	9	0	1	0
chr1	151286637	151286637	G	A	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon2:c.G346A:p.G116R,ZNF687:NM_020832:exon2:c.G346A:p.G116R,ZNF687:NM_001304763:exon3:c.G346A:p.G116R	Paget disease of bone 6, Autosomal dominant	411	1082	29	0	0	29	0.0132239	.	.	.	706682	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.116	0.0077978684814	0.0045	0.00239617	0.0053	0.0011	0.0013	0	0.0018	0.0070	0.0022	0.0082	0.0052781	816	154602	rs112780836	0.0066	0.0066	0.0066	0.0066	0.0106	0.0065	0.0064	0.0085	0.0077	0.0008	0.0019	0.0040	2.519e-05	0.0011	0.0106	0.0074	0.0055	0.0083	0.0044	0.0044	0.0045	0.0043	0.0097	0.0041	0.0040	0.0075	0.0067	0.0015	0	0.0028	0.0052	0	0.0011	0.0136	0.0069	0.0047	0.0097	0.005	0.63226	D	0.143	0.33219	T	0.132	0.27209	B	0.051	0.25434	B	0.054488	0.22721	N	0.220262	0.99836	0.22200	N	2.035	0.55589	M	5.61	0.00817	T	-1.83	0.42957	N	0.14	0.13911	-0.9328	0.43725	T	0.003	0.00897	T	10	0.0031077862	0.00052	T	0.007798	0.20694	T	0.116	0.32463	0.169	0.07419	0.161926535498	0.15789	0.09275164906072043	0.09207	0.378017355706	0.39229	0.413093268871	0.26885	T	0.019033	0.15236	T	-0.546198	0.00307	T	-0.545676	0.17744	T	0.017529488717337	0.00488	T	0.705629	0.31596	T	0.12748055	0.29830	0.099288575	0.23701	0.12012196	0.28271	0.099288575	0.23700	-5.302	0.39963	T	.	.	0.133	0.28693	B	.;.;.	.;.;.	1.867266	0.23722	16.13	0.99521263984027808	0.69284	0.40792	0.26515	N	AEFDGBCI	0.181147	0.30846	N	-0.127789319807598	0.36186	2.088219	-0.145802820623253	0.33570	1.921671	0.999645886790659	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.32	4.32	0.50899	2.201000	0.42368	9.873000	0.82142	0.618000	0.50648	0.053000	0.21524	1.000000	0.68203	0.026000	0.12556	0.0:0.1794:0.8206:0.0	11.717	0.50927	90	0.96275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.009511	0.008772	0.000000	0.008621	0.015244	0.011364	0.05	982.43	39	chr1	151286637	.	G	A	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.77;DP=447;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.757;SOR=0.959	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	9	0	1	0
chr1	151289123	151289123	G	A	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon4:c.G2323A:p.G775S,ZNF687:NM_020832:exon4:c.G2323A:p.G775S,ZNF687:NM_001304763:exon5:c.G2323A:p.G775S	Paget disease of bone 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2350535	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0241773340193	7.7e-05	0.000199681	3.302e-05	0.0003	0	0	0	0	0	6.083e-05	3.23e-05	5	154602	rs147334222	2.668e-05	2.668e-05	1.77e-05	3.575e-05	0.0007	1.997e-05	1.754e-05	0.0004	0.0004	0.0007	0.0002	0	0	0	0	1.799e-06	9.935e-05	2.319e-05	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	0	0	0	0.09	0.31987	T	0.056	0.46632	T	0.933	0.52105	P	0.699	0.54128	P	0.002823	0.35868	N	0.000000	0.999999	0.58761	D	0.935	0.23595	L	4.47	0.02084	T	-0.36	0.13035	N	0.379	0.42050	-0.7867	0.55921	T	0.005	0.01797	T	10	0.15305829	0.28898	T	0.024177	0.47165	T	0.166	0.42578	.	.	0.198222871337	0.19423	0.5190740119565079	0.51830	0.596461484873	0.54886	0.764130473137	0.76546	T	0.018622	0.14980	T	-0.4156	0.01826	T	-0.528781	0.19409	T	0.149162983300675	0.17036	T	0.851815	0.53646	D	0.057768937	0.11537	0.07308248	0.15842	0.057768937	0.11536	0.07308248	0.15842	-8.558	0.64812	D	.	.	0.253	0.48766	B	.;.	.;.	4.083957	0.60771	24.3	0.9972705003914567	0.82477	0.97560	0.75550	D	AEFDGBCI	0.929634	0.91569	D	0.0857984092434183	0.45800	2.830606	0.135219520339059	0.46362	2.883556	0.999999997330742	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.68	3.76	0.42368	5.786000	0.68654	6.761000	0.56536	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0868:0.0:0.9132:0.0	11.846	0.51658	91	0.96221	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3461.43	34	chr1	151289123	.	G	A	3461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.701;DP=650;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.689;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1268	9	0	1	0
chr1	151365215	151365215	A	G	exonic	SELENBP1	.	nonsynonymous SNV	SELENBP1:NM_001258288:exon9:c.T925C:p.S309P,SELENBP1:NM_001258289:exon10:c.T1237C:p.S413P,SELENBP1:NM_003944:exon10:c.T1111C:p.S371P	.	435	1080	7	0	0	7	0.00323027	.	.	.	2343757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00620693835847	.	.	8.66e-06	0	0	0	0	1.561e-05	0	0	1.29e-05	2	154602	rs776010271	4.994e-05	4.994e-05	5.582e-05	4.401e-05	0.0017	4.059e-05	3.734e-05	0.0009	0.0007	0	0	0	2.519e-05	0	0.0017	3.238e-05	0.0002	0.0002	7.228e-05	7.219e-05	8.998e-05	5.377e-05	0.0002	3.971e-05	3.127e-05	4.767e-05	3.34e-05	0	0	6.542e-05	0	0	0	0.0068	0.0001	0	0.0002	0.302	0.14400	T	0.292	0.21011	T	0.001	0.07471	B	0.009	0.14300	B	0.379221	0.13413	N	0.741751	1	0.08975	N	1.195	0.30194	L	.	.	.	-2.3	0.51157	N	0.216	0.24135	-1.0642	0.10736	T	0.043	0.18410	T	9	0.13605133	0.25886	T	0.006207	0.16288	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.5852307225278948	0.58453	0.112956299353	0.12750	0.350427240133	0.17984	T	0.063629	0.32225	T	-0.36888	0.03651	T	-0.530978	0.19188	T	0.0654764915367856	0.08000	T	0.735426	0.37284	T	0.2994287	0.52853	0.30029455	0.56063	0.2994287	0.52853	0.30029455	0.56062	-7.626	0.58492	D	.	.	0.239	0.54071	B	.;.;.	.;.;.	1.547971	0.19842	14.46	0.94343161350669724	0.24685	0.18456	0.20268	N	AEFDGBHCI	0.802127	0.72764	D	-0.700391730785641	0.16011	0.8120018	-0.776124346542676	0.15082	0.7913802	0.941577400920548	0.27483	0.631515	0.41029	0	0.615948	0.52940	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.59	2.17	0.26736	-0.180000	0.09747	2.666000	0.33914	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.688000	0.33778	0.6863:0.3137:0.0:0.0	10.435	0.43616	242	0.90534	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	731.43	33	chr1	151365215	.	A	G	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.961;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.587;SOR=0.782	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr1	151520656	151520656	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon5:c.G1105A:p.E369K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0156595869551	.	.	7.828e-05	0	0	0	0	0	0	0.0006	5.82e-05	9	154602	rs764215568	2.531e-05	2.531e-05	1.089e-05	3.988e-05	0.0004	1.868e-05	1.631e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.993e-07	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.566	0.08930	T	.	.	.	.	.	.	0.007240	0.31521	N	0.331639	0.791143	0.34388	D	.	.	.	-0.1	0.64264	T	-0.99	0.26200	N	0.379	0.42050	-0.7062	0.60139	T	0.233	0.59990	T	10	0.1956881	0.35430	T	0.01566	0.36515	T	0.157	0.40909	.	.	0.549671953984	0.54624	0.08188064297400582	0.08123	0.185886267333	0.20899	0.440113395452	0.30592	T	.	.	.	-0.237901	0.15617	T	-0.257539	0.49069	T	0.167543388294002	0.18412	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.17146	B	.	.	3.837979	0.55523	23.6	0.99932449173019589	0.99439	0.86848	0.46220	D	AEFBHCI	0.407151	0.47935	N	0.322441500959238	0.57301	3.897045	0.364721735659672	0.59400	4.117427	0.999998295822769	0.74766	0.706548	0.73137	0	0.61073	0.52368	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.22	5.22	0.72285	3.731000	0.54739	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	17.504	0.87636	415	0.81806	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	978.43	39	chr1	151520656	.	G	A	978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.063;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.74;ReadPosRankSum=-0.157;SOR=0.726	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	9	0	1	0
chr1	151851098	151851098	G	A	exonic	THEM5	.	nonsynonymous SNV	THEM5:NM_182578:exon3:c.C419T:p.S140L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0147365966189	.	.	1.65e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs200369753	1.3e-05	1.3e-05	1.089e-05	1.513e-05	8.115e-05	8.31e-06	6.7e-06	3.765e-05	2.662e-05	2.987e-05	0	0	2.519e-05	1.872e-05	0	5.396e-06	4.967e-05	8.115e-05	6.566e-06	6.562e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.313	0.13879	T	0.152	0.32249	T	0.996	0.68779	D	0.692	0.53862	P	0.000002	0.62929	D	0.060066	0.63433	0.30671	N	2.485	0.72352	M	2.09	0.20122	T	-1.09	0.28290	N	0.698	0.70263	-1.0877	0.05925	T	0.036	0.15465	T	10	0.6055141	0.67152	D	0.014737	0.35052	T	0.139	0.37390	0.318	0.29581	0.37262878642	0.36876	0.3398375260303536	0.33896	0.378730719423	0.39278	0.474958658218	0.35364	T	0.003366	0.02768	T	-0.181744	0.23478	T	-0.401985	0.33153	T	0.954387187957764	0.64252	D	0.844815	0.52285	T	0.39320245	0.60259	0.124181315	0.29936	0.39320245	0.60259	0.124181315	0.29935	-6.366	0.49244	T	.	.	0.346	0.56317	A	.	.	3.641685	0.51634	23.1	0.99698970098183159	0.80453	0.73129	0.35775	D	AEFDGBI	0.168903	0.29570	N	0.235913486812584	0.52945	3.46588	0.221393259659165	0.51035	3.289717	0.999996792003761	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.91	4.99	0.65942	3.235000	0.51027	8.345000	0.77002	0.648000	0.52827	0.997000	0.40164	1.000000	0.68203	0.260000	0.23518	0.0:0.162:0.838:0.0	12.997	0.58056	577	0.69927	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1272.43	34	chr1	151851098	.	G	A	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.638;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	9	0	1	0
chr1	152080747	152080747	G	A	exonic	LOC100131107	.	nonsynonymous SNV	LOC100131107:NM_001310142:exon1:c.C61T:p.R21W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs572211444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2705.43	180	chr1	152080747	.	G	A	2705.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=0;QD=15.03;ReadPosRankSum=-1.075;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1491	9	0	1	0
chr1	152108961	152108961	T	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.A4256G:p.E1419G	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00260118809853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	6.595e-06	6.577e-06	0	1.35e-05	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	0.024	0.47745	D	0.004	0.74150	D	0.59	0.39078	P	0.243	0.38752	B	.	.	.	.	0.987891	0.24469	N	2.67	0.78151	M	3.15	0.07820	T	-1.89	0.44094	N	0.24	0.27077	-0.9643	0.38350	T	0.011	0.03949	T	9	0.114938974	0.21639	T	0.002601	0.05263	T	0.044	0.11924	0.198	0.11110	0.436239592564	0.43243	0.045007362408155116	0.04444	0.310527836263	0.33367	0.263199031353	0.05277	T	0.002802	0.02196	T	-0.232126	0.16367	T	-0.571209	0.15339	T	0.22076390683651	0.21502	T	0.369963	0.08710	T	0.14727755	0.33676	0.1336607	0.32045	0.14727755	0.33676	0.1336607	0.32044	-9.041	0.67961	D	.	.	0.259	0.49334	B	.;.	.;.	2.704624	0.35341	19.87	0.96137975778728635	0.28826	0.10850	0.16236	N	AEFDBCIJ	0.086029	0.17442	N	-0.419309755473364	0.24793	1.341202	-0.501336365154178	0.22118	1.199726	0.999999330353058	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.59	3.45	0.38602	1.415000	0.34355	.	.	0.573000	0.29008	0.011000	0.18532	0.000000	0.08366	0.021000	0.11733	0.0:0.0982:0.0:0.9018	8.244	0.30839	478	0.77585	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3392.43	174	chr1	152108961	.	T	C	3392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.118;DP=1546;ExcessHet=0;FS=0.426;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=1.8;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	9	0	1	0
chr1	152109147	152109147	T	C	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.A4070G:p.E1357G	.	414	1090	18	0	0	18	0.00818926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00199687680997	0.0014	0.000599042	0.0015	0.0004	0.0027	0	0	0.0016	0.0089	0.0016	0.0012936	200	154602	rs187205661	0.0010	0.0010	0.0009	0.0011	0.0120	0.0009	0.0009	0.0097	0.0089	0.0002	0.0025	0.0052	0	0.0001	0.0120	0.0008	0.0020	0.0014	0.0011	0.0011	0.0011	0.0010	0.0031	0.0009	0.0009	0.0024	0.0021	0.0001	0	0.0031	0.0063	0	9.407e-05	0.0136	0.0011	0.0028	0.0010	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.886	0.62898	P	.	.	.	.	1	0.08975	N	2.605	0.76211	M	3.02	0.08986	T	-2.09	0.47683	N	0.17	0.18376	-1.0393	0.17526	T	0.020	0.08266	T	9	0.006308019	0.00142	T	0.001997	0.03615	T	0.070	0.20419	.	.	0.540153309661	0.53666	0.029142579865045516	0.02863	0.310527836263	0.33367	0.276593744755	0.07023	T	0.003272	0.02677	T	-0.522414	0.00426	T	-0.517497	0.20548	T	0.0236382078003124	0.01101	T	0.381062	0.09207	T	0.05759065	0.11479	0.115004845	0.27761	0.07775522	0.17667	0.08821971	0.20556	-8.197	0.62405	D	.	.	0.368	0.58715	A	.;.	.;.	2.059286	0.26183	17.03	0.94218210039858263	0.24465	0.13547	0.17918	N	AEFDBCI	0.108189	0.21531	N	-0.261898997275469	0.30631	1.709767	-0.492664172177704	0.22355	1.213806	0.999993752611818	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.08	1.62	0.22817	0.304000	0.18983	.	.	-0.160000	0.11618	0.000000	0.06391	.	.	0.351000	0.25682	0.1863:0.2139:0.0:0.5998	2.865	0.05254	478	0.77585	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013595	0.010101	0.020380	0.014620	0.150000	0.000000	0.006098	0.007576	0.05	1831.43	174	chr1	152109147	.	T	C	1831.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.097;DP=1622;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-0.099;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	9	0	1	0
chr1	152109804	152109804	C	T	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3413A:p.R1138K	.	424	1089	9	0	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00758786	0.0048	0.0001	0.0003	0	0	2.999e-05	0	0.0348	0.0040491	626	154602	rs533992300	0.0021	0.0021	0.0011	0.0032	0.0339	0.0021	0.0020	0.0329	0.0325	9.158e-05	0	0	0	0	0.0025	2.364e-05	0.0021	0.0339	0.0011	0.0011	0.0005	0.0016	0.0346	0.0009	0.0009	0.0302	0.0286	0	0	0	0	0	0	0	0	0.0005	0.0346	0.0	0.91255	D	0.339	0.18071	T	0.141	0.27581	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.87	0.49600	L	3.58	0.04594	T	-0.36	0.13035	N	0.215	0.24135	-0.9188	0.45716	T	0.003	0.00832	T	9	0.0022397041	0.00033	T	.	.	.	0.015	0.02232	0.292	0.25400	0.39798585902	0.39410	0.020110557720561088	0.01964	0.269095252176	0.29422	0.304328262806	0.11049	T	0.002148	0.01547	T	-0.575642	0.00205	T	-0.573884	0.15095	T	0.110068335798985	0.13431	T	0.153785	0.01329	T	0.16616009	0.36933	0.2301852	0.48113	0.17152028	0.37790	0.27158147	0.53059	-6.744	0.52141	T	.	.	0.192	0.44986	B	.;.	.;.	1.747150	0.22230	15.53	0.51538923033367567	0.04581	0.04943	0.10703	N	AEFDBHCI	0.076084	0.15298	N	-1.1373360611999	0.05990	0.2746135	-1.17216560275044	0.06378	0.3068309	0.999861090633338	0.44398	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.554799	0.18163	0	.	.	3.01	2.08	0.26079	1.223000	0.32131	.	.	0.440000	0.21072	0.005000	0.17040	0.000000	0.08366	0.001000	0.02609	0.0:0.8634:0.0:0.1366	7.490	0.26625	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004228	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.05	2181.43	68	chr1	152109804	.	C	T	2181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.044;DP=768;ExcessHet=0;FS=1.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=1.73;QD=12.83;ReadPosRankSum=-0.896;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	9	0	1	0
chr1	152110481	152110481	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G2736C:p.E912D	.	.	.	.	.	.	.	.	.	.	.	718222	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	0.0094612221149	0.0022	0.00279553	0.0008	0.0082	0.0006	0	0	4.497e-05	0	6.088e-05	0.000705	109	154602	rs143222885	0.0003	0.0003	0.0004	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0008	0	0	0	0.0009	0.0001	0.0005	2.327e-05	0.0023	0.0023	0.0025	0.0022	0.0082	0.0021	0.0021	0.0074	0.0072	0.0082	0	0.0005	0	0.0002	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.563	0.09022	T	0.139	0.27501	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.42	0.05507	T	-0.29	0.11728	N	0.101	0.08506	-0.9080	0.47097	T	0.003	0.01092	T	9	0.0032268167	0.00055	T	0.009461	0.24786	T	0.007	0.00512	0.358	0.36060	0.314716216878	0.31082	0.029712328873895966	0.02920	0.241407247156	0.26664	0.282814204693	0.07888	T	0.001129	0.00635	T	-0.593821	0.00159	T	-0.619503	0.11224	T	0.0333703709589778	0.02533	T	0.191181	0.02047	T	0.117134504	0.27617	0.14779852	0.34961	0.117134504	0.27617	0.14779852	0.34961	-6.524	0.50472	T	.	.	0.302	0.53151	B	.;.	.;.	1.622089	0.20720	14.88	0.6886709916982241	0.08791	0.04000	0.09424	N	ALL	0.053280	0.09586	N	-1.07597103092534	0.07088	0.3282463	-1.1388658080374	0.06969	0.3373194	0.999999992807045	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.554799	0.18163	0	.	.	2.11	1.17	0.19998	0.323000	0.19340	.	.	0.483000	0.22176	0.000000	0.06391	0.001000	0.17328	0.014000	0.10232	0.0:0.8394:0.0:0.1606	6.742	0.22630	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1454.43	68	chr1	152110481	.	C	G	1454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.938;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.095;SOR=0.712	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	9	0	1	0
chr1	152111858	152111860	CTC	-	exonic	TCHH	.	nonframeshift deletion	TCHH:NM_007113:exon3:c.1357_1359del:p.E453del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00279553	0.0008	0.0082	0.0006	0	0	4.507e-05	0	6.059e-05	0.0001153	3	26028	rs146085887	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0003	0.0063	0.0061	0.0071	0.0008	0	0	0	0.0009	0.0001	0.0006	5.832e-05	0.0016	0.0016	0.0016	0.0015	0.0056	0.0014	0.0013	0.0049	0.0046	0.0056	0	0.0005	0	0	0	0	0.0001	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002523	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1751.39	40	chr1	152111857	.	TCTC	T	1751.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.414;DP=482;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.77;MQRankSum=1.13;QD=21.36;ReadPosRankSum=-2.227;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1132	9	0	1	0
chr1	152154911	152154911	C	T	exonic	RPTN	.	nonsynonymous SNV	RPTN:NM_001122965:exon3:c.G2188A:p.D730N	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00302839162828	.	.	4.157e-05	0	8.654e-05	0	0	6.032e-05	0	0	3.23e-05	5	154602	rs201520409	3.694e-05	3.694e-05	3.539e-05	3.85e-05	0.0023	2.894e-05	2.592e-05	0.0013	0.0011	2.987e-05	8.944e-05	0.0004	0	0	0.0023	1.619e-05	9.934e-05	2.319e-05	1.973e-05	1.97e-05	1.286e-05	2.693e-05	1.47e-05	5.25e-06	2.46e-06	.	.	0	0	0	0.0006	0	0	0	1.47e-05	0	0	0.36	0.11919	T	0.607	0.07766	T	0.217	0.30183	B	0.033	0.22329	B	0.292414	0.14744	U	0.490781	1	0.08975	N	1.32	0.33002	L	2.48	0.14657	T	-1.54	0.37375	N	0.066	0.03841	-0.9213	0.45376	T	0.006	0.02018	T	10	0.035672426	0.01827	T	0.003028	0.06517	T	0.046	0.12618	.	.	0.20549828249	0.20151	0.010060484311307674	0.00968	0.0214910408985	0.02133	0.285068035126	0.08208	T	0.011589	0.10317	T	-0.552086	0.00283	T	-0.833838	0.01196	T	0.0306084417375897	0.02085	T	0.453055	0.12870	T	0.034144305	0.03773	0.027009929	0.00824	0.034144305	0.03773	0.027009929	0.00824	-5.093	0.37834	T	.	.	0.099	0.16713	B	.	.	0.670709	0.10390	7.116	0.56259121675468471	0.05514	0.04632	0.10298	N	AEFDBI	0.041827	0.06411	N	-1.04814276197741	0.07624	0.3547919	-1.07565911549557	0.08181	0.4011323	2.03072527400247E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	1.29	0.20717	0.011000	0.13162	.	.	0.500000	0.22704	0.016000	0.19238	0.000000	0.08366	0.025000	0.12405	0.1646:0.6352:0.0:0.2002	5.018	0.13689	635	0.64580	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.100000	0.008621	0.000000	0.000000	0.05	6535.43	34	chr1	152154911	.	C	T	6535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.007;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1271	9	0	1	0
chr1	152213889	152213891	GTG	-	exonic	HRNR	.	nonframeshift deletion	HRNR:NM_001009931:exon3:c.7738_7740del:p.H2580del	.	590	927	5	0	0	5	0.00268962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1230403957	1.296e-05	0.0004	1.166e-05	1.414e-05	0.0001	5.39e-06	3.46e-06	5.23e-05	3.541e-05	0	0	0	0	0	0	2.882e-06	0	0.0001	4.628e-05	0.0003	1.762e-05	7.797e-05	0.0013	1.753e-05	1.182e-05	0.0004	0.0003	4.282e-05	0	0	0	0	0	0	0	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	147.39	33	chr1	152213888	.	CGTG	C	147.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=358;ExcessHet=0;FS=3.938;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=24.54;MQRankSum=0.543;QD=2.83;ReadPosRankSum=0.349;SOR=1.596	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,378	9	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	550.24	308	chr1	152214827	.	A	*	550.24	.	AC=6;AF=0.3;AN=20;BaseQRankSum=4.01;DP=1774;ExcessHet=10.3881;FS=42.431;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.67;MQRankSum=2.78;QD=0.34;ReadPosRankSum=-3.783;SOR=9.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:105,0:122:99:0|1:152214821_T_A:398,714,5058:152214821	4	0	6	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	470.2	308	chr1	152214830	.	C	*	470.2	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.142;DP=1764;ExcessHet=10.3881;FS=42.67;InbreedingCoeff=-0.6665;MLEAC=6;MLEAF=0.3;MQ=27.6;MQRankSum=2.83;QD=0.3;ReadPosRankSum=-4.464;SOR=9.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:97,0:114:99:0|1:152214821_T_A:422,714,4787:152214821	4	0	6	0
chr1	152215073	152215073	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6556A:p.G2186S	.	413	1058	51	0	0	51	0.0235348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0002	.	0.0028	0.0009	0.0004	0.0003	0	0.0013	0.0015	0.0132	0.0017076	264	154602	rs369310118	0.0004	0.0016	0.0003	0.0005	0.0035	0.0004	0.0004	0.0031	0.0030	0.0002	6.77e-05	0.0013	2.521e-05	1.89e-05	0.0032	0.0002	0.0005	0.0035	0.0003	0.0006	0.0003	0.0004	0.0047	0.0003	0.0002	0.0032	0.0027	0.0001	0	6.704e-05	0.0003	0	0	0	0.0003	0.0015	0.0047	0.031	0.45039	D	0.29	0.21011	T	0.89	0.48942	P	0.082	0.29098	B	.	.	.	.	1	0.08975	N	1.955	0.52871	M	4.46	0.02102	T	-0.75	0.21003	N	0.217	0.24260	-0.8940	0.48577	T	0.002	0.00526	T	9	0.006400287	0.00145	T	.	.	.	0.079	0.23065	.	.	0.337868961071	0.33390	0.023821135414630563	0.02333	.	.	0.574209809303	0.49272	T	0.016079	0.13364	T	-0.629641	0.00096	T	-0.674462	0.07325	T	0.00560276802564981	0.00061	T	0.332567	0.07018	T	0.04420956	0.07027	0.047306728	0.06787	0.04420956	0.07027	0.047306728	0.06786	-9.429	0.70417	D	.	.	0.117	0.23848	B	.	.	0.827833	0.11993	8.550	0.82080008091088474	0.14008	0.00254	0.01397	N	AEFBI	0.034004	0.04137	N	-0.901208047052108	0.10814	0.5186456	-1.13080107986528	0.07117	0.3450171	1.00382679385416E-4	0.04910	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-3.96	0.03833	-1.323000	0.02800	.	.	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3675:0.1449:0.4876	5.364	0.15408	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005870	0.000000	0.001359	0.016667	0.000000	0.008621	0.009259	0.015385	0.05	2178.43	230	chr1	152215073	.	C	T	2178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=2232;ExcessHet=0;FS=5.881;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.94;MQRankSum=0.949;QD=5.46;ReadPosRankSum=0.987;SOR=0.462	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	9	0	1	0
chr1	152215129	152215129	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6500A:p.R2167H	.	388	1133	1	0	0	1	0.000441112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0025	.	0.0024	0.0276	0.0010	0.0001	0	0.0002	0.0011	0.0003	3.84e-05	1	26028	rs76307787	7.129e-05	0.0010	8.05e-05	6.199e-05	0.0030	5.993e-05	5.6e-05	0.0025	0.0023	0.0030	6.733e-05	0	0	0	0.0002	8.997e-07	9.974e-05	0	0.0014	0.0061	0.0014	0.0014	0.0047	0.0013	0.0012	0.0042	0.0039	0.0047	0	0.0016	0	0	0	0	2.941e-05	0.0005	0	0.256	0.16793	T	0.228	0.25286	T	0.991	0.64070	D	0.41	0.44785	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	4.4	0.02215	T	0.53	0.02808	N	0.057	0.02861	-0.8572	0.51463	T	0.003	0.00929	T	9	0.005711168	0.00127	T	.	.	.	0.054	0.15330	.	.	0.458283960492	0.45451	0.033886453359034854	0.03336	.	.	0.544039607048	0.45017	T	0.014025	0.12018	T	-0.340345	0.05364	T	-0.726659	0.04480	T	0.0225341743905536	0.00969	T	0.189581	0.02010	T	0.019419203	0.00472	0.029537719	0.01302	0.019419203	0.00472	0.029537719	0.01302	-9.525	0.71014	D	.	.	0.089	0.11941	B	.	.	0.807238	0.11783	8.354	0.8834170322412388	0.17901	0.00587	0.02638	N	AEFBI	0.030771	0.03161	N	-0.520475429842129	0.21419	1.13655	-0.721710515922399	0.16421	0.8685872	1.63978741130165E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.09	1.12	0.19700	-1.260000	0.02967	.	.	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7517:0.0:0.2483	6.844	0.23161	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007962	0.000000	0.012228	0.012397	0.000000	0.017241	0.006135	0.000000	0.05	1477.43	1099	chr1	152215129	.	C	T	1477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=4821;ExcessHet=0;FS=7.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.49;MQRankSum=-1.609;QD=1.77;ReadPosRankSum=-3.99;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800:.	9	0	1	0
chr1	152215142	152215142	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6487A:p.G2163R	.	377	1142	3	0	0	3	0.00131176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0021	0.0246	0.0007	0	0	0.0001	0.0011	0.0003	3.84e-05	1	26028	rs775442953	7.676e-05	0.0009	8.321e-05	7.024e-05	0.0034	6.503e-05	6.081e-05	0.0028	0.0026	0.0034	0	0	0	0	0.0002	8.996e-07	6.648e-05	0	0.0013	0.0060	0.0014	0.0012	0.0049	0.0012	0.0011	0.0043	0.0041	0.0049	0	0.0005	0	0	0	0	0	0	0	0.027	0.46513	D	0.513	0.10714	T	0.164	0.28467	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	2.37	0.15964	T	-1.24	0.31375	N	0.115	0.10340	-0.9153	0.46181	T	0.007	0.02360	T	9	0.0070596933	0.00160	T	.	.	.	0.013	0.01715	0.29	0.25081	0.314417295294	0.31040	0.012611169085636087	0.01220	.	.	0.628767311573	0.56970	T	0.016955	0.13915	T	-0.304919	0.08204	T	-0.675771	0.07244	T	0.00423984126840606	0.00045	T	0.453455	0.12891	T	0.08986522	0.21009	0.07681789	0.17053	0.08986522	0.21008	0.07681789	0.17052	-9.77	0.72522	D	.	.	0.293	0.52442	B	.	.	0.313107	0.06882	3.416	0.84602546538052092	0.15388	0.02608	0.07182	N	AEFBI	0.029253	0.02728	N	-1.26459064237944	0.04110	0.1848759	-1.32738116894511	0.04080	0.19169	1.24246345123986E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.51	-0.816	0.10292	-0.106000	0.10860	.	.	0.584000	0.30380	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5377:0.1601:0.3022	4.710	0.12250	568	0.70638	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006369	0.000000	0.010870	0.012295	0.000000	0.017241	0.000000	0.000000	0.05	1499.43	1289	chr1	152215142	.	C	T	1499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=5664;ExcessHet=0;FS=5.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.09;MQRankSum=-1.871;QD=1.6;ReadPosRankSum=-1.354;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:107,0:107:99:.:.:0,120,1800:.	9	0	1	0
chr1	152216539	152216539	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5090A:p.R1697H	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0008	.	0.0015	0.0177	0.0007	0	0	0.0001	0	0.0001	0.0013066	202	154602	rs147155372	0.0003	0.0011	0.0003	0.0003	0.0087	0.0002	0.0002	0.0078	0.0075	0.0087	0.0005	0.0002	2.622e-05	0	0.0009	3.964e-05	0.0006	0.0001	0.0048	0.0096	0.0046	0.0051	0.0168	0.0045	0.0044	0.0157	0.0153	0.0168	0	0.0025	0.0003	0	0	0.0039	0.0001	0.0037	0.0003	0.088	0.32296	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.74	0.01604	T	0.98	0.01447	N	0.055	0.02658	-0.9540	0.40274	T	0.002	0.00646	T	9	0.0040805936	0.00080	T	.	.	.	0.045	0.12272	.	.	0.184867976434	0.18130	0.03981449810652407	0.03927	.	.	0.443020343781	0.30990	T	0.014138	0.12091	T	-0.377501	0.03230	T	-0.78003	0.02452	T	0.00689922777791677	0.00078	T	0.230677	0.03117	T	0.018001338	0.00323	0.032038733	0.01879	0.018001338	0.00322	0.032038733	0.01879	-9.529	0.71039	D	.	.	0.094	0.14614	B	.	.	0.641780	0.10104	6.849	0.81979327576415273	0.13957	0.02032	0.06091	N	AEFI	0.024710	0.01573	N	-1.40839909054869	0.02564	0.1134066	-1.47200568872446	0.02577	0.1187333	1.57290069993394E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.88	-1.58	0.08029	-0.554000	0.06097	.	.	-4.950000	0.00017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5788:0.0:0.4212	8.960	0.35006	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002648	0.000000	0.005435	0.004132	0.000000	0.000000	0.000000	0.000000	0.05	1865.43	192	chr1	152216539	.	C	T	1865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.35;DP=2807;ExcessHet=0;FS=6.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.65;MQRankSum=1.82;QD=9.37;ReadPosRankSum=0.391;SOR=0.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:307,0:307:99:.:.:0,120,1800:.	9	0	1	0
chr1	152216552	152216552	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5077A:p.G1693R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0008	.	0.0015	0.0170	0.0007	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs140441435	0.0003	0.0011	0.0003	0.0002	0.0083	0.0002	0.0002	0.0075	0.0072	0.0083	0.0005	0.0001	0	1.892e-05	0.0011	4.161e-05	0.0006	0.0001	0.0046	0.0091	0.0045	0.0047	0.0162	0.0043	0.0042	0.0151	0.0147	0.0162	0	0.0023	0.0003	0	0	0	7.679e-05	0.0039	0	0.014	0.53172	D	0.737	0.05036	T	0.02	0.18235	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.32	0.66415	M	4.59	0.01885	T	-1.71	0.40660	N	0.105	0.08925	-0.9381	0.42916	T	0.001	0.00467	T	9	0.0070360303	0.00160	T	.	.	.	0.011	0.01250	0.286	0.24440	0.318828661733	0.31499	0.013213045917889436	0.01279	.	.	0.51032936573	0.40269	T	0.017396	0.14198	T	-0.299816	0.08677	T	-0.668442	0.07708	T	0.0046805425629068	0.00050	T	0.452755	0.12846	T	0.08583757	0.19928	0.07435774	0.16259	0.08583757	0.19928	0.07435774	0.16259	-9.549	0.71163	D	.	.	0.293	0.52393	B	.	.	0.546363	0.09152	5.932	0.85331026945132604	0.15826	0.01332	0.04590	N	AEFI	0.031235	0.03297	N	-1.29279395537981	0.03761	0.1685979	-1.36864479814756	0.03591	0.1678097	1.78876457453815E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.13	-1.78	0.07527	-1.478000	0.02435	.	.	-1.106000	0.01499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4305:0.1931:0.3764	3.692	0.07881	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001589	0.000000	0.004076	0.004132	0.000000	0.000000	0.000000	0.000000	0.05	1815.43	192	chr1	152216552	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.971;DP=2775;ExcessHet=0;FS=4.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.89;MQRankSum=1.29;QD=10.62;ReadPosRankSum=-1.064;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:307,0:307:99:.:.:0,120,1800:.	9	0	1	0
chr1	152218546	152218546	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G3083A:p.R1028K	.	420	1088	13	1	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00205941874828	0.0005	0.000399361	0.0006	9.61e-05	0.0005	0.0002	0	0.0003	0.0011	0.0027	0.0004916	76	154602	rs139825906	0.0005	0.0005	0.0004	0.0006	0.0033	0.0005	0.0005	0.0029	0.0028	2.987e-05	0.0006	0.0011	0	1.872e-05	0.0016	0.0004	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	7.23e-05	0	0.0003	0.0012	0	0	0	0.0003	0.0005	0.0023	1.0	0.00964	T	0.997	0.02325	T	0.003	0.11197	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	4.51	0.02015	T	-0.49	0.15578	N	0.1	0.08227	-0.9403	0.42568	T	0.001	0.00438	T	9	0.009475589	0.00214	T	0.002059	0.03775	T	0.012	0.01476	.	.	0.301455362545	0.29754	0.0052821143759877445	0.00499	.	.	0.539631009102	0.44393	T	0.016013	0.13319	T	-0.680243	0.00048	T	-0.753577	0.03349	T	0.00397605125544285	0.00042	T	0.180382	0.01798	T	0.064437516	0.13672	0.05156177	0.08322	0.064437516	0.13671	0.05156177	0.08321	-6.278	0.48548	T	.	.	0.145	0.31882	B	.	.	0.113539	0.05123	1.652	0.5233946700520915	0.04729	0.00637	0.02791	N	AEFBI	0.032491	0.03683	N	-1.50900998435382	0.01790	0.07843129	-1.54717309693685	0.01995	0.09115902	1.30687003692073E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-0.934	0.09897	-0.294000	0.08346	.	.	-0.373000	0.05434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.506:0.0:0.494	6.410	0.20889	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001587	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.1	8704.14	304	chr1	152218546	.	C	T	8704.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.04;DP=2320;ExcessHet=0.2348;FS=2.415;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.15;MQRankSum=-0.556;QD=12.38;ReadPosRankSum=-0.911;SOR=0.757	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	8	0	2	0
chr1	152218723	152218723	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2906C:p.R969T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00159344688998	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs753942220	5.473e-06	5.472e-06	4.084e-06	6.875e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.22746	T	0.841	0.03600	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.39	0.34934	L	4.5	0.02032	T	-0.39	0.13611	N	0.112	0.09914	-0.9264	0.44659	T	0.002	0.00585	T	9	0.05594623	0.06195	T	0.001593	0.02548	T	0.020	0.03691	0.29	0.25081	0.296329037015	0.29243	0.004171480446521937	0.00391	.	.	0.512784838676	0.40611	T	0.013828	0.11884	T	-0.43206	0.01440	T	-0.761546	0.03057	T	0.0269625631066341	0.01539	T	0.265873	0.04359	T	0.042343643	0.06404	0.034914605	0.02644	0.042343643	0.06404	0.034914605	0.02644	-9.75	0.72402	D	.	.	0.116	0.23360	B	.	.	0.542166	0.09109	5.891	0.31238569485553008	0.01750	0.05233	0.11064	N	AEFBI	0.032047	0.03545	N	-1.04772395869185	0.07633	0.3552046	-1.08458956544809	0.08003	0.3916459	1.9027249639652E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.71	1.77	0.23848	0.127000	0.15617	.	.	0.433000	0.20966	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6741:0.2074:0.1185	5.309	0.15129	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	6112.43	304	chr1	152218723	.	C	G	6112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.984;DP=2627;ExcessHet=0;FS=0.519;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.78;MQRankSum=-0.279;QD=12.87;ReadPosRankSum=0.744;SOR=0.661	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	9	0	1	0
chr1	152218845	152218845	C	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2784C:p.Q928H	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00277398207892	.	0.000199681	0.0004	0	8.637e-05	0.0001	0	0.0001	0.0011	0.0021	0.000304	47	154602	rs199549819	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0002	0.0014	0.0013	0	2.236e-05	0	5.04e-05	0	0.0012	8.993e-05	0.0002	0.0016	0.0001	0.0001	0.0001	0.0001	0.0015	7.582e-05	6.286e-05	0.0007	0.0005	2.409e-05	0	0	0	0	0	0.0034	0.0001	0	0.0015	0.014	0.53172	D	0.121	0.35840	T	0.995	0.67487	D	0.839	0.60107	P	.	.	.	.	1	0.08975	N	2.215	0.62545	M	4.54	0.01963	T	-1.48	0.36189	N	0.108	0.09349	-0.8849	0.49365	T	0.007	0.02598	T	9	0.022691846	0.00574	T	0.002774	0.05752	T	0.039	0.10176	0.283	0.23961	0.509228182784	0.50563	0.008687222983592115	0.00832	.	.	0.514081060886	0.40794	T	0.019604	0.15585	T	-0.637546	0.00086	T	-0.707582	0.05421	T	0.0308943800628185	0.02129	T	0.304669	0.05813	T	0.06817321	0.14829	0.06522582	0.13188	0.06817321	0.14829	0.06522582	0.13188	-6.271	0.48493	T	.	.	0.190	0.40794	B	.	.	1.155514	0.15440	11.85	0.57709566375960941	0.05829	0.07031	0.13058	N	AEFBI	0.035298	0.04519	N	-0.200597682536222	0.33109	1.874776	-0.400489424023735	0.24982	1.371237	1.05634643418225E-4	0.05123	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.76	2.81	0.31971	-0.145000	0.10248	.	.	-0.307000	0.06116	0.000000	0.06391	.	.	0.042000	0.14466	0.0:0.8868:0.0:0.1132	9.460	0.37943	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4726.43	304	chr1	152218845	.	C	G	4726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.84;DP=2780;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=-1.131;QD=10.65;ReadPosRankSum=0.523;SOR=0.764	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	9	0	1	0
chr1	152218889	152218889	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2740A:p.G914S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0064	0.00638978	0.0017	0.0178	0.0010	0.0002	0	0.0001	0	6.056e-05	0.0016559	256	154602	rs150329486	0.0007	0.0007	0.0008	0.0006	0.0175	0.0006	0.0006	0.0163	0.0159	0.0175	0.0012	0	0.0002	0	0.0012	0.0002	0.0015	6.957e-05	0.0049	0.0049	0.0051	0.0047	0.0166	0.0046	0.0045	0.0156	0.0152	0.0166	0	0.0023	0	0.0006	0	0	0.0002	0.0038	0	0.573	0.06125	T	0.995	0.02336	T	0.906	0.49993	P	0.079	0.28749	B	.	.	.	.	1	0.08975	N	0.79	0.19579	N	4.47	0.02084	T	0.48	0.03041	N	0.073	0.04668	-0.9162	0.46063	T	0.001	0.00378	T	9	0.0038478076	0.00073	T	.	.	.	0.038	0.09825	.	.	0.247322355667	0.24350	0.002395140940065346	0.00222	.	.	0.547664523125	0.45528	T	0.013393	0.11594	T	-0.746782	0.00019	T	-0.830541	0.01253	T	0.00463312138219259	0.00050	T	0.286771	0.05140	T	0.019365957	0.00465	0.03967883	0.04115	0.019365957	0.00465	0.03967883	0.04114	-6.018	0.46431	T	.	.	0.095	0.14706	B	.	.	0.181383	0.05688	2.136	0.71513911445712808	0.09655	0.00438	0.02140	N	AEFBI	0.022896	0.01203	N	-1.1325469797088	0.06072	0.2785413	-1.30970758777482	0.04304	0.2027178	5.6834665638494E-5	0.04171	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-3.63	0.04238	-2.207000	0.01314	.	.	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5327:0.0:0.4673	9.434	0.37792	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003171	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	5071.43	304	chr1	152218889	.	C	T	5071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=2617;ExcessHet=0;FS=2.173;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.95;MQRankSum=0.015;QD=13.07;ReadPosRankSum=1.93;SOR=0.819	GT:AD:DP:GQ:PL	0/0:115,0:115:99:0,120,1800	9	0	1	0
chr1	152219272	152219272	C	A	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2357T:p.G786V	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00212828475701	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs761620569	4.789e-06	4.788e-06	4.084e-06	5.5e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.076	0.42614	T	0.982	0.60036	D	0.722	0.54942	P	.	.	.	.	0.999996	0.08975	N	2.645	0.77386	M	3.43	0.05440	T	-3.14	0.64019	D	0.082	0.05799	-0.9675	0.37713	T	0.010	0.03627	T	9	0.18031114	0.33209	T	0.002128	0.03962	T	0.054	0.15330	0.358	0.36060	0.595504241854	0.59229	0.0023360632022177536	0.00216	.	.	0.579312682152	0.49989	T	0.166483	0.51273	T	-0.474214	0.00801	T	-0.716298	0.04977	T	0.258180499076843	0.23235	T	0.314169	0.06189	T	0.07020806	0.15445	0.070709765	0.15055	0.07020806	0.15444	0.070709765	0.15054	-8.989	0.67626	D	.	.	0.185	0.39999	B	.	.	0.940402	0.13162	9.662	0.71398190324494526	0.09615	0.13380	0.17823	N	AEFDBI	0.064033	0.12409	N	-0.349101323869587	0.27305	1.497035	-0.564690836826707	0.20416	1.099871	9.69721632556608E-5	0.04910	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.13	1.07	0.19399	0.103000	0.15128	.	.	-0.307000	0.06116	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6455:0.2221:0.1324	4.720	0.12291	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3341.43	317	chr1	152219272	.	C	A	3341.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.232;DP=2835;ExcessHet=0;FS=0.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.939;SOR=0.744	GT:AD:DP:GQ:PL	0/0:293,0:293:99:0,120,1800	9	0	1	0
chr1	152219623	152219623	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T2006C:p.F669S	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.00279553	0.0009	0	0.0002	0	0	4.495e-05	0	0.0061	0.0007956	123	154602	rs77790012	0.0004	0.0005	0.0002	0.0006	0.0064	0.0004	0.0004	0.0059	0.0058	0	2.264e-05	0	0.0001	0	0.0002	6.338e-06	0.0004	0.0064	0.0003	0.0004	0.0002	0.0004	0.0096	0.0002	0.0002	0.0072	0.0064	2.695e-05	0	0	0	0.0002	0	0	3.363e-05	0	0.0096	0.125	0.27310	T	0.709	0.05544	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.325	0.00090	N	4.37	0.02277	T	2.95	0.00148	N	0.094	0.07398	-0.9944	0.31459	T	0.001	0.00255	T	9	0.005220473	0.00114	T	.	.	.	0.034	0.08419	.	.	0.295623431141	0.29171	0.033653172035226414	0.03313	.	.	0.560231804848	0.47300	T	0.013727	0.11817	T	-0.410801	0.01963	T	-0.827863	0.01300	T	0.021996538704179	0.00908	T	0.142786	0.01162	T	0.029769693	0.02527	0.0867597	0.20122	0.029769693	0.02526	0.0867597	0.20121	2.422	0.00035	T	.	.	0.069	0.03093	B	.	.	-0.250657	0.02843	0.398	0.56543394743680775	0.05575	0.00010	0.00151	N	AEFBI	0.010405	0.00074	N	-1.43805631999196	0.02312	0.1019549	-1.35977285290676	0.03692	0.1727441	7.52600819089051E-5	0.04552	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	2.52	0.29514	-0.631000	0.05593	.	.	-1.235000	0.01322	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1177:0.0:0.8823:0.0	8.714	0.33561	570	0.70478	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.1111	559.37	407	chr1	152219623	.	A	G	559.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=6.43;DP=3906;ExcessHet=0.2348;FS=7.179;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=59;MQRankSum=-16.71;QD=0.56;ReadPosRankSum=-6.535;SOR=1.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:412,44:456:99:0|1:152219622_A_G:485,0,17160:152219622	7	0	2	1
chr1	152219626	152219626	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A2003G:p.D668G	.	424	1094	2	0	2	4	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00115791171022	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.00073	19	26028	rs201373508	8.49e-06	0.0001	9.849e-06	7.115e-06	3.53e-05	4.53e-06	3.58e-06	9.38e-06	4.6e-06	0	0	0	0	0	0	7.41e-06	1.742e-05	3.53e-05	4.634e-05	0.0002	7.256e-05	1.895e-05	0.0002	1.755e-05	1.184e-05	3.046e-05	1.262e-05	3.18e-05	0	0.0002	0	0	0	0	4.303e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.49	0.00058	N	3.82	0.03728	T	1.88	0.00467	N	0.075	0.04913	-0.9305	0.44066	T	0.001	0.00287	T	9	0.023259073	0.00603	T	0.001158	0.01459	T	0.022	0.04323	.	.	0.134241683229	0.13084	0.025996270308110095	0.02550	.	.	0.479595899582	0.36001	T	0.01356	0.11709	T	-0.417779	0.01767	T	-0.837887	0.01131	T	0.0233545887119417	0.01065	T	0.194581	0.02117	T	0.026619844	0.01743	0.05906723	0.11022	0.026619844	0.01743	0.05906723	0.11022	1.939	0.00055	T	.	.	0.092	0.13503	B	.	.	-0.821274	0.01066	0.046	0.43249806253065387	0.03243	0.00199	0.01145	N	AEFBI	0.017387	0.00452	N	-1.79079954483704	0.00568	0.02446565	-1.8032040271601	0.00749	0.03338449	3.23504371043759E-4	0.06540	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.44	-4.87	0.02893	-2.060000	0.01480	.	.	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4184:0.2235:0.3581	5.561	0.16427	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	591.24	407	chr1	152219626	.	T	C	591.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.01;DP=4096;ExcessHet=0.2348;FS=8.947;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=58.33;MQRankSum=-17.18;QD=0.58;ReadPosRankSum=-8.356;SOR=1.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:422,49:471:99:0|1:152219622_A_G:529,0,17437:152219622	5	0	2	3
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	279.43	421	chr1	152219783	.	T	C	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=7.18;DP=3923;ExcessHet=0;FS=15.346;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=52.08;MQRankSum=-8.126;QD=0.62;ReadPosRankSum=-7.32;SOR=2.49	GT:AD:DP:GQ:PL	0/0:465,0:465:99:0,120,1800	9	0	1	0
chr1	152303212	152303212	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C11674T:p.R3892W	Ichthyosis vulgaris, Autosomal dominant	0	1465	57	0	0	57	0.0190827	.	.	.	1195846	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.082	0.00554769908557	0.0016	0.00159744	0.0027	0.0005	0.0010	0.0002	0.0054	0.0021	0.0044	0.0076	0.0023415	362	154602	rs141128022	0.0021	0.0021	0.0018	0.0024	0.0089	0.0020	0.0020	0.0084	0.0082	0.0003	0.0016	0.0083	2.519e-05	0.0048	0.0062	0.0014	0.0029	0.0089	0.0018	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0004	0	0.0018	0.0081	0	0.0061	0.0068	0.0016	0.0019	0.0060	0.107	0.29554	T	.	.	.	0.964	0.55854	D	0.183	0.35961	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.66	0.01756	T	-0.69	0.19720	N	0.142	0.14196	-0.8597	0.51284	T	0.002	0.00526	T	9	0.0057953596	0.00129	T	0.005548	0.14319	T	0.082	0.23913	.	.	0.328222422547	0.32431	0.015331430378345676	0.01489	.	.	0.205580681562	0.00637	T	0.027624	0.20190	T	-0.616504	0.00115	T	-0.652933	0.08750	T	0.0155825827814693	0.00355	T	0.49745	0.15470	T	0.04290102	0.06590	0.030120097	0.01429	0.04290102	0.06589	0.030120097	0.01428	-6.245	0.48285	T	.	.	0.160	0.35456	B	.	.	2.053606	0.26105	17.00	0.98448850519908393	0.41598	0.06603	0.12618	N	AEFBI	0.077473	0.15610	N	-0.566929061247806	0.19955	1.048469	-0.755836527502834	0.15580	0.8200499	1.46969122758361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.17	1.13	0.19758	1.153000	0.31287	.	.	0.613000	0.49114	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.676:0.324	5.602	0.16640	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.000000	0.050000	0.017241	0.009146	0.011364	0.1	7164.14	33	chr1	152303212	.	G	A	7164.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.11;DP=832;ExcessHet=0.2348;FS=2.46;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.728;SOR=0.547	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1184	8	0	2	0
chr1	152303961	152303961	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T10925C:p.I3642T	Ichthyosis vulgaris, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	YES	1195849	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0069	.	0.0035	0.0385	0.0013	0	0	0.0004	0.0011	0.0004	0.0005763	15	26028	rs150010190	0.0011	0.0014	0.0013	0.0010	0.0320	0.0011	0.0011	0.0304	0.0297	0.0320	0.0018	0.0008	5.038e-05	0	0.0033	0.0003	0.0021	0.0004	0.0058	0.0085	0.0060	0.0057	0.0206	0.0055	0.0054	0.0195	0.0190	0.0206	0	0.0017	0	0	0	0	0.0002	0.0024	0	1.0	0.00964	T	.	.	.	0.081	0.24602	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	-0.71	0.01811	N	3.86	0.03624	T	0.43	0.03297	N	0.038	0.01203	-0.9336	0.43605	T	0.002	0.00615	T	9	0.0039396286	0.00075	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.010551573171303709	0.01016	.	.	0.28362852335	0.08003	T	0.012736	0.11141	T	-0.784356	0.00010	T	-0.875764	0.00690	T	3.21378574881237e-05	0.00000	T	0.237776	0.03353	T	0.021012286	0.00683	0.053564195	0.09047	0.021012286	0.00683	0.053564195	0.09046	-5.241	0.39356	T	.	.	0.069	0.03060	B	.	.	-0.719614	0.01275	0.067	0.35760694279240979	0.02262	0.00017	0.00201	N	AEFBI	0.012907	0.00155	N	-1.46307970545098	0.02116	0.0930999	-1.42371780322069	0.03016	0.1399039	1.59035186883024E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.59	1.5	0.22029	-0.328000	0.07988	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0973:0.1616:0.7411:0.0	8.009	0.29503	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005826	0.000000	0.012228	0.008197	0.000000	0.008621	0.000000	0.000000	0.05	10298.4	649	chr1	152303961	.	A	G	10298.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=3491;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.49;MQRankSum=-0.964;QD=7.15;ReadPosRankSum=2.28;SOR=0.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1184	9	0	1	0
chr1	152306286	152306286	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T8600G:p.I2867S	Ichthyosis vulgaris, Autosomal dominant	1	1398	122	1	0	124	0.0424658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.0139776	1.664e-05	0	0.0002	0	0	0	0	0	0.0026894	70	26028	rs562496957	0.0004	0.0017	0.0004	0.0004	0.0182	0.0004	0.0004	0.0169	0.0164	0.0182	0.0001	0	5.157e-05	0	0	4.499e-06	0.0002	4.649e-05	0.0001	0.0087	0.0001	0.0001	0.0007	8.399e-05	6.959e-05	0.0002	0.0001	0.0003	0	0.0003	0	0.0007	9.781e-05	0	1.508e-05	0	0	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.695	0.00033	N	4.44	0.02139	T	1.22	0.01051	N	0.108	0.09349	-0.9320	0.43844	T	0.000	0.00114	T	9	0.005701959	0.00127	T	.	.	.	0.028	0.06331	.	.	0.0666544352282	0.05500	0.03254880392644141	0.03202	.	.	0.232478544116	0.02157	T	0.011277	0.10082	T	-0.338118	0.05519	T	-0.72346	0.04630	T	0.0612642933428966	0.07366	T	0.29767	0.05533	T	0.03513105	0.04077	0.070264496	0.14906	0.03513105	0.04077	0.070264496	0.14905	0.608	0.00192	T	.	.	0.072	0.04316	B	.	.	-0.356046	0.02382	0.263	0.50286818611689099	0.04358	0.00033	0.00296	N	AEFI	0.012106	0.00124	N	-1.93142500550348	0.00296	0.01268816	-1.86376335753537	0.00576	0.0255669	2.65845221984093E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	-2.54	0.05941	-0.796000	0.04680	.	.	-0.434000	0.05191	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3682:0.2705:0.3613:0.0	5.099	0.14083	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4204.43	1597	chr1	152306286	.	A	C	4204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.076;DP=5189;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.05;MQRankSum=-11.17;QD=2.63;ReadPosRankSum=7.78;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1458:.	9	0	1	0
chr1	152306292	152306292	-	CC	exonic	FLG	.	frameshift insertion	FLG:NM_002016:exon3:c.8593_8594insGG:p.A2865Gfs*28	Ichthyosis vulgaris, Autosomal dominant	0	1397	124	1	0	126	0.0431507	.	.	.	1019162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1205280854	0.0003	0.0016	0.0004	0.0003	0.0150	0.0003	0.0003	0.0139	0.0134	0.0150	8.971e-05	0	5.141e-05	0	0	0	0.0001	3.488e-05	9.776e-05	0.0079	0.0001	8.565e-05	0.0006	5.861e-05	4.725e-05	0.0002	8.916e-05	0.0002	0	0.0002	0	0.0006	9.509e-05	0	1.482e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4058.39	1637	chr1	152306292	.	G	GCC	4058.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.743;DP=5208;ExcessHet=0;FS=0.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.46;MQRankSum=-11.69;QD=2.48;ReadPosRankSum=7.21;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1458:.	9	0	1	0
chr1	152306295	152306296	TG	-	exonic	FLG	.	frameshift deletion	FLG:NM_002016:exon3:c.8590_8591del:p.H2864Cfs*5	Ichthyosis vulgaris, Autosomal dominant	1	1401	119	1	0	121	0.0413958	.	.	.	1019163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407703398	0.0003	0.0015	0.0003	0.0002	0.0132	0.0003	0.0003	0.0121	0.0117	0.0132	8.971e-05	0	2.574e-05	0	0	0	8.32e-05	3.487e-05	7.227e-05	0.0080	7.064e-05	7.397e-05	0.0005	3.847e-05	2.957e-05	8.069e-05	3.381e-05	0.0001	0	0.0001	0	0.0005	9.714e-05	0	1.499e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3929.39	1647	chr1	152306294	.	ATG	A	3929.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.266;DP=5218;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.71;MQRankSum=-11.94;QD=2.39;ReadPosRankSum=6.69;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1458:.	9	0	1	0
chr1	152306299	152306299	T	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A8587T:p.T2863S	Ichthyosis vulgaris, Autosomal dominant	1	1406	114	1	0	116	0.0396175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00815051428836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271569013	0.0003	0.0015	0.0003	0.0002	0.0126	0.0003	0.0002	0.0116	0.0112	0.0126	8.971e-05	0	2.571e-05	0	0	4.498e-06	9.984e-05	1.162e-05	0.0002	0.0082	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0001	0	0.0005	9.694e-05	0	4.498e-05	0.0005	0	0.75	0.03587	T	.	.	.	0.477	0.36687	P	0.241	0.38645	B	.	.	.	.	1	0.08975	N	1.105	0.28596	L	4.7	0.01673	T	0.28	0.04233	N	0.048	0.01999	-0.9323	0.43799	T	0.002	0.00526	T	9	0.06755382	0.09427	T	0.008151	0.21598	T	0.011	0.01250	0.317	0.29419	0.162503812791	0.15892	0.035396750250694796	0.03486	.	.	0.270178943872	0.06164	T	0.009579	0.08713	T	-0.5121	0.00488	T	-0.68323	0.06789	T	0.0273883762299825	0.01600	T	0.216078	0.02692	T	0.025629967	0.01522	0.028810205	0.01152	0.025629967	0.01522	0.028810205	0.01152	-3.074	0.11000	T	.	.	0.090	0.12655	B	.	.	-0.112232	0.03568	0.691	0.56914044250386053	0.05655	0.01371	0.04680	N	AEFI	0.036336	0.04825	N	-0.963681291731912	0.09387	0.4441023	-1.1154303731441	0.07405	0.3600705	1.18193506777854E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.59	0.398	0.15542	-0.081000	0.11285	.	.	-1.396000	0.01145	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2327:0.0:0.7673	3.431	0.06999	561	0.71236	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3742.43	1638	chr1	152306299	.	T	A	3742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.56;DP=5209;ExcessHet=0;FS=1.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.02;MQRankSum=-12.06;QD=2.28;ReadPosRankSum=5.88;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1458:.	9	0	1	0
chr1	152306354	152306354	-	TTG	exonic	FLG	.	nonframeshift insertion	FLG:NM_002016:exon3:c.8531_8532insCAA:p.E2844delinsDK	Ichthyosis vulgaris, Autosomal dominant	0	1513	2	0	7	9	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1448728360	0.0001	0.0006	0.0001	9.383e-05	0.0049	8.949e-05	8.431e-05	0.0043	0.0040	0.0049	4.489e-05	0	0	0	0	8.997e-07	3.325e-05	0	4.259e-05	0.0057	4.174e-05	4.348e-05	0.0004	1.829e-05	1.204e-05	7.208e-05	2.998e-05	6.25e-05	0	6.77e-05	0	0.0004	0	0	1.484e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	198.39	1440	chr1	152306354	.	C	CTTG	198.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.17;DP=5331;ExcessHet=0;FS=5.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.05;MQRankSum=-6.089;QD=0.14;ReadPosRankSum=-10.83;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1458:.	9	0	1	0
chr1	152308194	152308194	G	T	exonic	FLG	.	stopgain	FLG:NM_002016:exon3:c.C6692A:p.S2231X	Ichthyosis vulgaris, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0960463	0.0738	0.0499	0.1290	0.1770	0.0452	0.0409	0.0874	0.1414	0.0185185	482	26028	rs536240526	4.279e-05	0.0025	4.326e-05	4.232e-05	0.0010	3.395e-05	3.077e-05	0.0007	0.0006	0.0010	4.667e-05	4.046e-05	0.0004	0	0	5.466e-06	0.0002	1.188e-05	0.0006	0.0029	0.0006	0.0006	0.0028	0.0005	0.0005	0.0022	0.0020	0.0028	0	0.0002	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.284	0.32148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.828627	0.93730	33	0.94689239606745224	0.25331	0.01165	0.04195	N	AEFBI	0.017660	0.00478	N	-0.263201740900834	0.30579	1.706429	-0.647889126147857	0.18270	0.9752533	1.8516116629361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.46	1.53	0.22224	0.240000	0.17822	.	.	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1685:0.0:0.8315:0.0	5.470	0.15957	563	0.71062	.	.	.	.	.	.	Benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	193.05	541	chr1	152308194	.	G	T	193.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=6.68;DP=2312;ExcessHet=0;FS=10.327;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=57.98;MQRankSum=-13.64;QD=0.32;ReadPosRankSum=-5.947;SOR=2.267	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1380	8	0	1	1
chr1	152308195	152308195	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6691G:p.S2231A	Ichthyosis vulgaris, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.0960463	0.0740	0.0504	0.1302	0.1788	0.0451	0.0409	0.0876	0.1417	0.0185185	482	26028	rs556324776	6.34e-05	0.0031	7.006e-05	5.667e-05	0.0013	5.246e-05	4.855e-05	0.0010	0.0009	0.0013	2.351e-05	4.081e-05	0.0005	0	0	1.918e-05	0.0002	1.197e-05	0.0007	0.0029	0.0007	0.0007	0.0031	0.0006	0.0005	0.0025	0.0023	0.0031	0	0.0003	0	0	0.0001	0	1.714e-05	0.0007	0	0.361	0.11882	T	.	.	.	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.165	0.04321	N	3.75	0.03922	T	-0.76	0.21215	N	0.008	0.00068	-0.9703	0.37136	T	0.001	0.00408	T	9	0.0016847253	0.00021	T	.	.	.	0.020	0.03691	.	.	.	.	0.023400691961431297	0.02292	.	.	0.250265181065	0.03796	T	0.01042	0.09410	T	-0.421068	0.01684	T	-0.842611	0.01060	T	0.0111847063957195	0.00164	T	0.113289	0.00862	T	0.049661875	0.08852	0.0466271	0.06541	0.049661875	0.08852	0.0466271	0.06541	-1.481	0.01726	T	.	.	0.07	0.03479	B	.	.	-0.108554	0.03590	0.701	0.38466588929725054	0.02596	0.00127	0.00790	N	AEFBI	0.024979	0.01634	N	-2.80467277842901	0.00003	0.0001331835	-2.84999607398235	0.00003	0.0001554434	0.937587305439055	0.27304	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-5.35	0.02488	-0.933000	0.04067	.	.	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3562:0.4539:0.1899:0.0	6.785	0.22854	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	358.05	541	chr1	152308195	.	A	C	358.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.71;DP=2317;ExcessHet=0;FS=12.443;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=57.95;MQRankSum=-13.61;QD=0.59;ReadPosRankSum=-6.616;SOR=2.073	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1380	8	0	1	1
chr1	152308209	152308209	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6677T:p.G2226V	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.183307	0.0814	0.0632	0.1473	0.1924	0.0496	0.0461	0.0930	0.1461	0.0354234	922	26028	rs544807449	0.0005	0.0052	0.0005	0.0005	0.0130	0.0004	0.0004	0.0117	0.0113	0.0130	0.0008	0.0003	0.0046	0.0001	0.0013	5.441e-05	0.0017	0.0003	0.0018	0.0036	0.0016	0.0020	0.0088	0.0016	0.0015	0.0077	0.0072	0.0088	0	0.0005	0	0.0012	0.0004	0	5.587e-05	0.0015	0.0012	0.105	0.29823	T	.	.	.	0.868	0.47740	P	0.372	0.43610	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	3.29	0.06445	T	-2.19	0.49352	N	0.076	0.05037	-0.9736	0.36431	T	0.005	0.01578	T	9	0.0030772686	0.00051	T	.	.	.	0.165	0.42395	.	.	.	.	0.04323361185617763	0.04268	.	.	0.259808212519	0.04868	T	0.028284	0.20524	T	-0.29482	0.09157	T	-0.661265	0.08180	T	0.0260858363473376	0.01417	T	0.40156	0.10241	T	0.10558327	0.24963	0.10160429	0.24329	0.10558327	0.24963	0.10160429	0.24329	-6.387	0.49408	T	.	.	0.163	0.36053	B	.	.	0.777234	0.11474	8.076	0.62904335362991759	0.07083	0.02780	0.07486	N	AEFBI	0.039599	0.05774	N	-0.779306879523823	0.13850	0.6853526	-1.02305830469118	0.09279	0.460741	2.08373560863147E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.93	-1.95	0.07135	-0.009000	0.12703	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2337:0.3704:0.2307:0.1652	0.807	0.01016	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1417.52	583	chr1	152308209	.	C	A	1417.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.83;DP=2619;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=58;MQRankSum=-12;QD=2.19;ReadPosRankSum=-6.705;SOR=1.3	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1380	6	0	1	3
chr1	152308212	152308212	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6674C:p.V2225A	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	1245031	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.183307	0.0849	0.0676	0.1618	0.2071	0.0519	0.0475	0.0976	0.1499	0.0354234	922	26028	rs116918835	0.0009	0.0054	0.0009	0.0009	0.0197	0.0008	0.0008	0.0181	0.0175	0.0197	0.0013	0.0008	0.0076	0.0002	0.0014	0.0001	0.0026	0.0020	0.0022	0.0037	0.0020	0.0024	0.0108	0.0019	0.0018	0.0095	0.0090	0.0108	0	0.0006	0	0.0014	0.0004	0	7.611e-05	0.0008	0.0013	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.18	0.09070	N	3.97	0.03326	T	0.73	0.02068	N	0.021	0.00339	-0.9292	0.44256	T	0.002	0.00526	T	8	0.0012171268	0.00013	T	.	.	.	0.037	0.09474	.	.	.	.	0.028666542745717876	0.02816	.	.	0.285316556692	0.08245	T	0.009382	0.08542	T	-0.378214	0.03197	T	-0.781055	0.02422	T	0.000276302609008336	0.00002	T	0.166283	0.01543	T	0.032984942	0.03429	0.09148293	0.21510	0.032984942	0.03429	0.09148293	0.21510	-4.226	0.27126	T	.	.	0.061	0.01075	B	.	.	-0.504175	0.01853	0.149	0.39177539384107868	0.02688	0.00100	0.00648	N	AEFBI	0.016280	0.00357	N	-1.58518500512031	0.01340	0.05839091	-1.65704622896125	0.01340	0.06047888	1.29783415351714E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.693	-0.944	0.09862	-1.778000	0.01875	.	.	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.008621	0.009146	0.003788	0.0625	1675.73	515	chr1	152308212	.	A	G	1675.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=11.59;DP=2562;ExcessHet=0;FS=5.589;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=58.03;MQRankSum=-11.25;QD=2.55;ReadPosRankSum=-5.69;SOR=1.276	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1380	7	0	1	2
chr1	152308240	152308240	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6646C:p.W2216R	Ichthyosis vulgaris, Autosomal dominant	0	1519	2	0	1	3	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	.	0.0011	0.0113	0.0002	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs750334731	6.16e-06	0.0003	5.449e-06	6.879e-06	0.0001	2.9e-06	2.1e-06	4.124e-05	2.401e-05	0.0001	2.238e-05	0	2.519e-05	0	0	1.799e-06	1.659e-05	0	0.0004	0.0055	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0001	0	0	0	0	1.472e-05	0	0	0.884	0.02519	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.74	0.01604	T	0.57	0.02638	N	0.041	0.01421	-0.9918	0.32141	T	0.001	0.00287	T	9	0.006183088	0.00139	T	.	.	.	0.015	0.02232	0.275	0.22687	0.134241683229	0.13084	0.017096601575852525	0.01664	.	.	0.21634504199	0.01109	T	0.012107	0.10698	T	-0.519008	0.00446	T	-0.814167	0.01574	T	0.0325369226154847	0.02394	T	0.142786	0.01162	T	0.030487433	0.02720	0.048043367	0.07052	0.030487433	0.02720	0.048043367	0.07051	3.097	0.00019	T	.	.	0.097	0.15877	B	.	.	0.174176	0.05627	2.079	0.58310186660061003	0.05964	0.00015	0.00188	N	AEFBI	0.012262	0.00129	N	-1.48502118576232	0.01955	0.08584978	-1.49893989338641	0.02353	0.1081092	1.49699493291343E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.46	1.46	0.21769	-1.509000	0.02368	.	.	-0.608000	0.04593	0.000000	0.06391	0.007000	0.19602	0.000000	0.00833	0.2291:0.0:0.7709:0.0	4.096	0.09465	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	70.43	515	chr1	152308240	.	A	G	70.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.954;DP=2710;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.18;MQRankSum=-13.27;QD=0.09;ReadPosRankSum=-5.215;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1380	9	0	1	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E	Ichthyosis vulgaris, Autosomal dominant	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	32705.3	773	chr1	152308312	.	T	C	32705.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.839;DP=3877;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=58.34;MQRankSum=-14.05;QD=9.17;ReadPosRankSum=3.1;SOR=0.685	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1380	9	0	1	0
chr1	152308926	152308926	C	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G5960A:p.R1987H	Ichthyosis vulgaris, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00160212493888	0.0002	.	0.0004	0.0002	8.637e-05	0.0017	0	4.495e-05	0	0.0018	0.0003428	53	154602	rs150720370	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	0.0001	2.236e-05	0	0.0011	0	0.0012	9.712e-05	0.0002	0.0014	0.0002	0.0003	0.0002	0.0002	0.0015	0.0002	0.0001	0.0008	0.0006	0.0001	0	6.533e-05	0	0.0015	0	0	0.0002	0	0.0010	0.604	0.05567	T	.	.	.	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.665	0.16292	N	5.52	0.00903	T	0.04	0.06488	N	0.046	0.01825	-0.9748	0.36170	T	0.001	0.00287	T	9	0.01054126	0.00234	T	0.001602	0.02574	T	0.006	0.00375	.	.	0.0666544352282	0.05500	0.00882527760408678	0.00846	.	.	0.198732987046	0.00421	T	0.014259	0.12170	T	-0.732594	0.00023	T	-0.831881	0.01229	T	0.0101435463186682	0.00137	T	0.483452	0.14697	T	0.022931406	0.00991	0.03253012	0.02003	0.022931406	0.00991	0.03253012	0.02003	-8.495	0.64396	D	.	.	0.087	0.11172	B	.	.	-0.072764	0.03807	0.807	0.49881538539254361	0.04287	0.00037	0.00318	N	AEFBI	0.023558	0.01330	N	-1.61296677362794	0.01201	0.05221832	-1.74703559004593	0.00944	0.04227932	1.05924605377094E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.66	-3.32	0.04663	-1.451000	0.02494	.	.	-0.695000	0.04090	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2542:0.2119:0.5339	3.690	0.07875	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5850.43	901	chr1	152308926	.	C	T	5850.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.32;DP=3902;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.42;MQRankSum=1.96;QD=7.43;ReadPosRankSum=0.1;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1380	9	0	1	0
chr1	152309148	152309148	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5738C:p.N1913T	Ichthyosis vulgaris, Autosomal dominant	0	1518	3	0	1	4	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000758759005081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs541394374	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0025	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.573e-05	0	0	0	0	1.473e-05	0	0	0.305	0.14256	T	.	.	.	0.911	0.50336	P	0.579	0.50152	P	.	.	.	.	1	0.08975	N	1.265	0.31966	L	4.7	0.01673	T	-0.16	0.09460	N	0.07	0.04307	-0.9710	0.36988	T	0.002	0.00707	T	9	0.06515136	0.08748	T	7.59E-4	0.00549	T	0.057	0.16321	0.315	0.29096	0.0716867268079	0.06686	0.0015192893771644796	0.00140	.	.	0.246517330408	0.03409	T	0.012997	0.11321	T	-0.42283	0.01641	T	-0.845143	0.01024	T	0.169582322693503	0.18552	T	0.324568	0.06628	T	0.080356464	0.18408	0.065636255	0.13332	0.080356464	0.18408	0.065636255	0.13331	-3.966	0.23293	T	.	.	0.188	0.40554	B	.	.	-1.053360	0.00698	0.020	0.25207745535954701	0.01151	0.00897	0.03520	N	AEFBI	0.036746	0.04945	N	-1.95268531002226	0.00267	0.01145097	-2.23221538702727	0.00095	0.004161579	0.999995353605371	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-6.9	0.01496	-4.975000	0.00192	.	.	-3.412000	0.00088	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.096:0.452:0.2904:0.1617	5.405	0.15616	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	795.43	532	chr1	152309148	.	T	G	795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=2808;ExcessHet=0;FS=2.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.34;MQRankSum=-13.56;QD=1.24;ReadPosRankSum=-3.683;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1380:.	9	0	1	0
chr1	152309149	152309149	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5737C:p.N1913H	Ichthyosis vulgaris, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	1164847	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.0081869	0.0021	0.0224	0.0010	0	0	8.99e-05	0	0	0.0016136	42	26028	rs561463895	0.0006	0.0009	0.0007	0.0006	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0011	0	2.519e-05	0	0.0037	6.927e-05	0.0014	0.0002	0.0061	0.0083	0.0063	0.0059	0.0215	0.0058	0.0057	0.0203	0.0198	0.0215	0	0.0024	0	0	0	0.0068	0.0001	0.0053	0.0002	0.314	0.13834	T	.	.	.	0.022	0.18677	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.02	0.07987	N	5.01	0.01308	T	0.47	0.03090	N	0.088	0.06587	-0.8877	0.49130	T	0.001	0.00408	T	9	0.0038010776	0.00071	T	.	.	.	0.028	0.06331	.	.	0.119812018005	0.11559	0.0028406063628844402	0.00264	.	.	0.239344403148	0.02732	T	0.01052	0.09491	T	-0.766611	0.00014	T	-0.860334	0.00839	T	0.00269116279263132	0.00028	T	0.275372	0.04709	T	0.042536438	0.06470	0.041122578	0.04604	0.042536438	0.06470	0.041122578	0.04604	0.936	0.00140	T	.	.	0.084	0.09772	B	.	.	-1.565117	0.00258	0.004	0.450417971896859	0.03506	0.00139	0.00851	N	AEFBI	0.019488	0.00682	N	-1.51631893579081	0.01742	0.07628056	-1.6477246330247	0.01388	0.06269787	0.00109989909081102	0.08217	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-5.76	0.02183	-1.826000	0.01799	.	.	-1.789000	0.00640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2638:0.1987:0.5375	7.455	0.26429	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010042	0.020202	0.020380	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	816.43	532	chr1	152309149	.	T	G	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=2807;ExcessHet=0;FS=2.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.34;MQRankSum=-13.67;QD=1.28;ReadPosRankSum=-3.354;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1380:.	9	0	1	0
chr1	152309371	152309371	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5515C:p.S1839P	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00131350387666	.	.	8.236e-06	0	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs749467652	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	6.59e-06	6.571e-06	1.287e-05	0	2.423e-05	0	0	.	.	2.423e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	.	.	.	0.967	0.56408	D	0.939	0.67449	D	.	.	.	.	1	0.08975	N	3.07	0.87108	M	3.81	0.03754	T	-3.37	0.66665	D	0.123	0.11483	-1.0746	0.08431	T	0.015	0.06282	T	9	0.15762255	0.29659	T	0.001314	0.01834	T	0.085	0.24743	0.236	0.16608	0.234412748748	0.23057	0.005256197289127799	0.00496	.	.	0.324181675911	0.14054	T	0.094391	0.39408	T	-0.366723	0.03763	T	-0.667694	0.07757	T	0.427180796861649	0.29956	T	0.429357	0.11628	T	0.21445833	0.43852	0.20644914	0.44859	0.21445833	0.43852	0.20644914	0.44858	-7.455	0.57293	T	.	.	0.240	0.47448	B	.	.	1.166331	0.15557	11.94	0.81109478964903425	0.13524	0.00382	0.01931	N	AEFBI	0.047200	0.07920	N	-0.798845838190429	0.13340	0.6564821	-1.13629022954185	0.07016	0.3397664	0.00209953674542018	0.09151	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	-6.13	0.01937	-0.094000	0.11060	.	.	0.361000	0.20101	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.2253:0.1398:0.3615:0.2734	1.354	0.02048	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5246.43	399	chr1	152309371	.	A	G	5246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.31;DP=2674;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.367;SOR=0.632	GT:AD:DP:GQ:PL	0/1:245,213:458:99:5258,0,6421	9	0	1	0
chr1	152312082	152312082	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2804C:p.G935A	Ichthyosis vulgaris, Autosomal dominant	0	1491	31	0	0	31	0.0102887	.	.	.	1195865	FLG-related_disorder|Ichthyosis_vulgaris|not_provided	.|MONDO:MONDO:0024304,MedGen:C0079584,OMIM:146700|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.000885805589783	0.0026	0.000599042	0.0028	0.0003	0.0020	0	0	0.0042	0.0099	0.0015	0.0024967	386	154602	rs150503113	0.0019	0.0019	0.0018	0.0020	0.0222	0.0019	0.0018	0.0191	0.0179	0.0005	0.0030	0.0278	0	0.0001	0.0222	0.0013	0.0043	0.0013	0.0024	0.0024	0.0025	0.0022	0.0048	0.0022	0.0021	0.0040	0.0036	0.0003	0.0022	0.0048	0.0355	0	9.425e-05	0.0238	0.0019	0.0052	0.0008	0.018	0.50676	D	.	.	.	0.204	0.29802	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	2.735	0.79925	M	4.76	0.01576	T	-1.68	0.40082	N	0.096	0.07673	-0.9383	0.42885	T	0.002	0.00769	T	9	0.005888641	0.00132	T	8.86E-4	0.00800	T	0.026	0.05648	.	.	0.117506650769	0.11410	0.013417229045876907	0.01299	.	.	0.255646705627	0.04385	T	0.02681	0.19761	T	-0.682628	0.00046	T	-0.757315	0.03210	T	0.00847852903289858	0.00103	T	0.534247	0.17838	T	0.077396624	0.17565	0.060455702	0.11514	0.077396624	0.17564	0.060455702	0.11514	-8.24	0.62694	D	.	.	0.145	0.31857	B	.	.	-0.570785	0.01653	0.116	0.58113512807442025	0.05920	0.01243	0.04382	N	AEFBI	0.032672	0.03735	N	-1.15039363912109	0.05773	0.2640714	-1.32093414333687	0.04160	0.1956355	2.03026426021431E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.81	-1.91	0.07225	-1.041000	0.03653	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3637:0.2118:0.4245	3.331	0.06669	591	0.68823	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.019979	0.030303	0.029891	0.019531	0.100000	0.008621	0.003049	0.007576	0.05	4250.43	605	chr1	152312082	.	C	G	4250.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.618;DP=2780;ExcessHet=0;FS=1.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.79;MQRankSum=-1.753;QD=10.44;ReadPosRankSum=0.411;SOR=0.601	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr1	152312297	152312297	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2589C:p.R863S	Ichthyosis vulgaris, Autosomal dominant	0	1506	15	0	1	16	0.0049554	.	.	.	1195869	FLG-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00455718386317	0.0027	0.00299521	0.0013	0.0084	0.0009	0	0	0.0002	0	0.0031	0.0011578	179	154602	rs149855516	0.0005	0.0005	0.0005	0.0006	0.0079	0.0005	0.0005	0.0072	0.0069	0.0079	0.0010	0	7.557e-05	7.488e-05	0.0017	0.0001	0.0008	0.0032	0.0026	0.0026	0.0026	0.0025	0.0079	0.0023	0.0023	0.0072	0.0069	0.0079	0	0.0022	0	0.0002	9.497e-05	0	0.0002	0	0.0023	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.035	0.05024	N	5.58	0.00843	T	2.34	0.00278	N	0.054	0.02559	-0.9111	0.46719	T	0.000	0.00152	T	9	0.004664898	0.00098	T	0.004557	0.11252	T	0.014	0.01968	.	.	0.0716867268079	0.06686	0.06347440224965822	0.06286	.	.	0.234674930573	0.02331	T	0.01273	0.11134	T	-0.722244	0.00027	T	-0.803691	0.01812	T	0.000580257885496856	0.00005	T	0.316468	0.06291	T	0.07270883	0.16195	0.05372356	0.09104	0.07270883	0.16195	0.05372356	0.09103	-7.778	0.59547	D	.	.	0.089	0.12181	B	.	.	-1.168666	0.00563	0.014	0.44239524625645671	0.03387	0.00025	0.00253	N	AEFBI	0.018053	0.00518	N	-1.96052580780369	0.00257	0.01101426	-2.04367172998558	0.00247	0.01089423	0.0874755642667334	0.16035	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.78	-7.55	0.01185	-1.981000	0.01580	.	.	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1634:0.4421:0.1716:0.2229	2.908	0.05374	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	5125.43	432	chr1	152312297	.	C	G	5125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.327;DP=2287;ExcessHet=0;FS=3.232;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.38;MQRankSum=-10.84;QD=11.62;ReadPosRankSum=1.38;SOR=0.486	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr1	152315447	152315447	G	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon2:c.C10A:p.L4I	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00526669732699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.853e-07	6.841e-07	0	1.378e-06	1.167e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.788	0.44546	P	0.526	0.48415	P	.	.	.	.	1	0.08975	N	2.335	0.66956	M	1.43	0.32958	T	-2.0	0.46146	N	0.344	0.38541	-0.9557	0.39970	T	0.064	0.26349	T	9	0.6299233	0.68457	D	0.005267	0.13464	T	0.178	0.44724	0.86	0.95774	0.236890367714	0.23314	0.06965755541058022	0.06903	.	.	0.472915053368	0.35082	T	0.116256	0.43547	T	-0.177781	0.24067	T	-0.493146	0.23062	T	0.432711362838745	0.30161	T	0.430757	0.11694	T	0.43091443	0.62812	0.45238554	0.68145	0.43091443	0.62813	0.45238554	0.68145	-8.85	0.66726	D	.	.	0.360	0.57192	A	.	.	1.287483	0.16881	12.82	0.92177452505373425	0.21543	0.02451	0.06895	N	AEFBI	0.042317	0.06551	N	-0.835049695085866	0.12421	0.6053458	-1.07781891403222	0.08138	0.3988198	6.62937416488239E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-3.63	0.04238	0.215000	0.17352	.	.	-0.831000	0.02872	0.010000	0.18352	0.998000	0.33993	0.017000	0.10941	0.0:0.108:0.192:0.7	12.104	0.53106	572	0.70300	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain|S-100	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	370.43	34	chr1	152315447	.	G	T	370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=380;ExcessHet=0;FS=1.108;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.28;ReadPosRankSum=0.749;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1070	9	0	1	0
chr1	152351526	152351526	T	C	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.A6260G:p.H2087R	.	434	1048	40	0	0	40	0.0187266	.	.	.	2805939	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00479233	0.0068	0.0012	0.0097	0	0.0008	0.0057	0.0121	0.0187	0.0062677	969	154602	rs141384852	0.0066	0.0066	0.0059	0.0073	0.0319	0.0065	0.0065	0.0281	0.0267	0.0014	0.0071	0.0051	5.05e-05	0.0005	0.0319	0.0063	0.0071	0.0182	0.0043	0.0043	0.0047	0.0039	0.0132	0.0040	0.0039	0.0106	0.0096	0.0016	0.0011	0.0051	0.0029	0.0002	0.0009	0.0104	0.0059	0.0091	0.0132	0.064	0.36509	T	0.246	0.23984	T	0.015	0.17086	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	1.18	0.37746	T	-1.78	0.42001	N	0.2	0.22098	-0.9826	0.34398	T	0.025	0.10777	T	9	0.00496462	0.00106	T	.	.	.	0.024	0.04979	.	.	0.132336055621	0.12781	0.05537557425557988	0.05478	0.212961028099	0.23803	0.307520180941	0.11533	T	0.006229	0.05666	T	-0.556913	0.00265	T	-0.558464	0.16521	T	0.00240712079536758	0.00025	T	0.310869	0.06046	T	0.049321175	0.08740	0.052928723	0.08818	0.049321175	0.08740	0.052928723	0.08818	-8.854	0.66752	D	.	.	0.131	0.28261	B	.	.	1.380453	0.17916	13.44	0.79875974500555302	0.12941	0.06125	0.12103	N	AEFBCI	0.036976	0.05012	N	-1.05045716834564	0.07579	0.3525285	-1.07817471328921	0.08131	0.398442	2.41949346052646E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	2.29	0.27658	0.107000	0.15212	.	.	-0.668000	0.04312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1717:0.0939:0.0:0.7344	4.430	0.10947	565	0.70868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.027551	0.045455	0.019022	0.037975	0.100000	0.025862	0.018293	0.018939	0.05	6125.43	201	chr1	152351526	.	T	C	6125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.717;DP=1247;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=0.386;QD=10.31;ReadPosRankSum=0.104;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	9	0	1	0
chr1	152354961	152355191	GAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	-	exonic	FLG2	.	nonframeshift deletion	FLG2:NM_001014342:exon3:c.2595_2825del:p.S869_T945del	.	431	1042	9	40	0	89	0.0409572	.	.	.	970660	Peeling_skin_syndrome_6	MONDO:MONDO:0054852,MedGen:C4748093,OMIM:618084	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0191	0.0006	0.0400	0.0837	0.0047	0.0089	0.0187	0.0291	.	.	.	.	0.0081	0.0082	0.0075	0.0087	0.0761	0.0080	0.0079	0.0738	0.0729	0.0005	0.0381	0.0193	0.0761	0.0037	0.0142	0.0032	0.0101	0.0253	0.0039	0.0046	0.0039	0.0039	0.0185	0.0037	0.0035	0.0154	0.0143	0.0005	0.0011	0.0088	0.0145	0.0185	0.0033	0.0076	0.0033	0.0015	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	15793.1	555	chr1	152354960	.	TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	T	15793.1	.	AC=2;AF=0.1;AN=20;DP=1749;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=58.43;QD=28.46;SOR=0.911	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	9	1	0	0
chr1	152566019	152566019	G	A	exonic	LCE3E	.	nonsynonymous SNV	LCE3E:NM_178435:exon2:c.C190T:p.R64W	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0007	0.00179712	0.0028	0	0.0003	0.0001	0.0163	0.0015	0.0088	0.0070	0.0023415	362	154602	rs141660085	0.0017	0.0017	0.0015	0.0020	0.0069	0.0017	0.0017	0.0065	0.0063	8.961e-05	0.0004	0	2.519e-05	0.0159	0.0024	0.0009	0.0017	0.0069	0.0020	0.0020	0.0012	0.0028	0.0056	0.0018	0.0018	0.0040	0.0034	0.0001	0	0.0004	0	0.0004	0.0178	0	0.0011	0.0009	0.0056	0.001	0.78490	D	0.072	0.43344	T	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.512765	0.31633	N	.	.	.	3.58	0.04594	T	-7.34	0.94594	D	0.243	0.27435	-1.0691	0.09612	T	0.018	0.07282	T	8	0.0069955885	0.00159	T	.	.	.	0.119	0.33137	.	.	0.42081714158	0.41701	0.045876631416582526	0.04531	0.0109884020189	0.01019	0.290862977505	0.09048	T	0.169304	0.51663	T	-0.532448	0.00372	T	-0.534154	0.18873	T	0.129430871580562	0.15329	T	0.615438	0.23533	T	0.2365254	0.46504	0.18598147	0.41743	0.2365254	0.46504	0.18598147	0.41742	-6.756	0.52231	T	.	.	0.123	0.25753	B	.	.	1.079586	0.14625	11.18	0.86540543742528564	0.16605	0.02377	0.06757	N	AEFBI	0.071883	0.14325	N	-0.358730681885269	0.26953	1.47501	-0.622997363671662	0.18902	1.011872	0.0117669632086188	0.12232	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.82	-4.79	0.02966	-1.063000	0.03576	.	.	-0.110000	0.15115	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.1312:0.1909:0.6778	8.553	0.32624	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007634	0.05	3297.43	33	chr1	152566019	.	G	A	3297.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=576;ExcessHet=0;FS=1.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.6;MQRankSum=-0.814;QD=15.13;ReadPosRankSum=-0.901;SOR=0.56	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr1	152687091	152687091	G	A	exonic	LCE2B	.	nonsynonymous SNV	LCE2B:NM_014357:exon2:c.G248A:p.R83Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0088	0.0103834	0.0028	0.0344	0.0007	0	0	1.525e-05	0.0011	6.066e-05	0.002749	425	154602	rs28391399	0.0009	0.0009	0.0010	0.0008	0.0329	0.0008	0.0008	0.0313	0.0306	0.0329	0.0010	0	5.038e-05	0	0.0017	1.619e-05	0.0019	5.798e-05	0.0091	0.0091	0.0092	0.0089	0.0319	0.0087	0.0085	0.0305	0.0299	0.0319	0	0.0027	0	0	0	0	1.472e-05	0.0052	0.0006	0.0	0.91255	D	0.158	0.31629	T	0.194	0.29493	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.035	0.55589	M	3.72	0.04014	T	-1.66	0.39692	N	0.187	0.20395	-0.9437	0.42025	T	0.005	0.01797	T	9	0.0033533573	0.00058	T	.	.	.	0.091	0.26358	.	.	0.110078149338	0.10416	0.02670578154572866	0.02620	0.00259469205085	0.00220	0.268126726151	0.05898	T	0.074495	0.34951	T	-0.684484	0.00045	T	-0.731616	0.04254	T	0.0219270622814454	0.00900	T	0.518148	0.16784	T	0.1451331	0.33283	0.110738404	0.26704	0.1451331	0.33283	0.110738404	0.26704	-7.499	0.57603	T	.	.	0.126	0.26638	B	.	.	1.967885	0.24995	16.60	0.82369535310228204	0.14156	0.01425	0.04802	N	AEFBI	0.035403	0.04552	N	-0.8315240622838	0.12509	0.6101967	-0.97117169402519	0.10435	0.5256032	1.15541404896304E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.28	0.068	0.13679	0.196000	0.16979	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1754:0.0:0.5487:0.276	2.704	0.04838	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2533.43	36	chr1	152687091	.	G	A	2533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=490;ExcessHet=0;FS=0.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.32;MQRankSum=-1.545;QD=14.73;ReadPosRankSum=-1.14;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr1	152759907	152759907	G	A	exonic	KPRP	.	nonsynonymous SNV	KPRP:NM_001025231:exon2:c.G319A:p.V107I	.	430	1072	18	2	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00143544866918	0.0010	0.00179712	0.0019	0.0003	0.0005	0	0.0003	0.0012	0.0033	0.0083	0.0016882	261	154602	rs141893273	0.0014	0.0014	0.0012	0.0016	0.0081	0.0013	0.0013	0.0076	0.0074	8.965e-05	0.0013	0.0054	0	0.0002	0.0033	0.0009	0.0015	0.0081	0.0014	0.0014	0.0012	0.0016	0.0069	0.0013	0.0012	0.0050	0.0044	0.0004	0	0.0046	0.0072	0	0	0.0068	0.0010	0.0014	0.0069	.	.	.	0.166	0.30828	T	0.001	0.07471	B	0.01	0.14941	B	0.197705	0.16681	N	0.502898	1	0.08975	N	1.455	0.36767	L	.	.	.	.	.	.	0.135	0.13198	-0.9933	0.31749	T	0.013	0.05081	T	10	0.0041950047	0.00083	T	0.001435	0.02139	T	.	.	.	.	0.0986583533028	0.09354	0.0326603906186976	0.03214	.	.	0.262207508087	0.05156	T	0.011288	0.10090	T	-0.583315	0.00184	T	-0.605963	0.12315	T	0.00202387368533371	0.00021	T	0.352865	0.07937	T	0.031186612	0.02914	0.034994595	0.02667	0.031186612	0.02914	0.034994595	0.02667	-5.355	0.40484	T	.	.	0.082	0.08948	B	.	.	0.144917	0.05383	1.861	0.57246240920058877	0.05727	0.06025	0.11992	N	AEFDGBHIJ	0.040569	0.06054	N	-0.85380326589887	0.11956	0.5799864	-0.853312163780188	0.13208	0.6839292	0.999999999064034	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	3.73	0.41982	0.675000	0.24912	.	.	-0.119000	0.14319	0.001000	0.13787	0.006000	0.19429	0.001000	0.02609	0.1692:0.0:0.8308:0.0	9.188	0.36341	724	0.55085	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	3102.43	38	chr1	152759907	.	G	A	3102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.762;DP=1318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.205;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1259	9	0	1	0
chr1	152827648	152827648	G	T	exonic	LCE1A	.	nonsynonymous SNV	LCE1A:NM_178348:exon1:c.G176T:p.G59V	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0048	0.00279553	0.0071	0.0006	0.0026	0	0.0198	0.0077	0.0078	0.0099	0.0066299	1025	154602	rs137886860	0.0064	0.0064	0.0061	0.0066	0.0107	0.0062	0.0062	0.0102	0.0099	0.0005	0.0020	0.0027	2.519e-05	0.0181	0.0024	0.0062	0.0056	0.0107	0.0062	0.0063	0.0060	0.0065	0.0084	0.0059	0.0058	0.0078	0.0076	0.0010	0.0537	0.0026	0.0029	0.0002	0.0176	0.0034	0.0084	0.0047	0.0083	.	.	.	0.037	0.51737	D	0.252	0.31228	B	0.065	0.27321	B	0.001619	0.38497	N	0.000000	0.511832	0.31641	N	0.975	0.24501	L	4.05	0.03092	T	0.1	0.05810	N	0.327	0.36779	-0.9207	0.45458	T	0.004	0.01261	T	10	0.0056049526	0.00124	T	.	.	.	0.053	0.14996	.	.	0.42573502686	0.42190	0.02000986391656538	0.01953	0.00632469907816	0.00551	.	.	.	0.013973	0.11984	T	-0.551778	0.00285	T	-0.555972	0.16757	T	0.0141190291080568	0.00276	T	.	.	.	0.28463754	0.51490	0.29991361	0.56025	0.28463754	0.51490	0.29991361	0.56024	-8.34	0.63364	D	.	.	0.139	0.30423	B	.	.	2.033724	0.25852	16.91	0.92754091606875322	0.22261	0.96048	0.67297	D	AEFBI	0.289958	0.40147	N	-0.0558428762478233	0.39341	2.318482	0.0934079522935043	0.44217	2.707679	0.0109707312120962	0.12109	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	4.706000	0.61534	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.124000	0.19330	0.0:0.0:1.0:0.0	12.484	0.55203	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003178	0.000000	0.000000	0.004098	0.000000	0.000000	0.006135	0.011364	0.05	1074.43	36	chr1	152827648	.	G	T	1074.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.662;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-0.699;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	9	0	1	0
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1527.16	22	chr1	152910506	.	C	*	1527.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=328;ExcessHet=0.6204;FS=2.516;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=55.83;MQRankSum=-0.909;QD=13.76;ReadPosRankSum=-1.266;SOR=1.025	GT:AD:DP:GQ:PL	0/0:11,0:22:99:373,410,875	9	0	1	0
chr1	152985356	152985356	C	0	exonic	SPRR1A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6456.03	112	chr1	152985356	.	C	*	6456.03	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.115;DP=772;ExcessHet=4.5998;FS=2.451;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0;QD=10.67;ReadPosRankSum=1.11;SOR=0.546	GT:AD:DP:GQ:PL	0/0:47,0:89:99:1092,1233,2577	9	0	1	0
chr1	153390447	153390447	T	C	exonic	S100A8	.	nonsynonymous SNV	S100A8:NM_001319196:exon2:c.A161G:p.Y54C,S100A8:NM_001319197:exon2:c.A158G:p.Y53C,S100A8:NM_001319198:exon2:c.A113G:p.Y38C,S100A8:NM_001319201:exon2:c.A89G:p.Y30C,S100A8:NM_002964:exon2:c.A89G:p.Y30C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0174871241907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.076	0.42614	T	0.999	0.77913	D	0.956	0.69739	D	0.002247	0.36929	N	0.291182	1	0.08975	N	.	.	.	3.32	0.06214	T	-2.23	0.50012	N	0.716	0.71942	-1.1175	0.02496	T	0.026	0.11264	T	9	0.8217069	0.81371	D	0.017487	0.39209	T	0.136	0.36778	0.529	0.63560	0.494031935134	0.49039	0.5874808131619581	0.58678	0.963323052377	0.73079	0.622328996658	0.56058	T	0.155723	0.49758	T	-0.135469	0.30615	T	-0.432369	0.29665	T	0.858817994594574	0.50944	D	0.817118	0.47377	T	0.34114465	0.56370	0.18146932	0.41013	0.34114465	0.56370	0.18146932	0.41012	-2.844	0.08595	T	.	.	0.208	0.43435	B	.;.	.;.	3.246441	0.44338	21.9	0.98992530618175079	0.49963	0.41207	0.26606	N	AEFDBHCI	0.273224	0.38868	N	0.172135878801249	0.49864	3.182189	0.0268765527372502	0.40967	2.453462	0.999999952898328	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.17	4.17	0.48303	2.108000	0.41478	1.230000	0.25036	0.663000	0.56723	0.999000	0.42656	0.937000	0.28687	0.142000	0.20019	0.0:0.0:0.0:1.0	9.903	0.40531	846	0.36215	S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain;S100/CaBP-9k-type, calcium binding, subdomain|S100/CaBP-9k-type, calcium binding, subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1560.43	34	chr1	153390447	.	T	C	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=447;ExcessHet=0;FS=4.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.47;SOR=0.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	9	0	1	0
chr1	153547821	153547821	T	C	exonic	S100A3	.	nonsynonymous SNV	S100A3:NM_002960:exon3:c.A167G:p.N56S	.	.	.	.	.	.	.	.	.	.	.	3310161	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00388295656481	0.0002	.	7.438e-05	0.0002	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs148342748	7.731e-05	7.73e-05	7.215e-05	8.251e-05	0.0003	6.533e-05	6.136e-05	7.311e-05	6.722e-05	0.0001	0	0	0	0	0.0003	8.724e-05	9.936e-05	3.478e-05	9.204e-05	9.194e-05	0.0001	8.075e-05	0.0001	5.53e-05	4.367e-05	6.287e-05	4.302e-05	0.0001	0	6.545e-05	0	0	0	0	0.0001	0	0	0.026	0.46910	D	0.143	0.33219	T	0.046	0.21875	B	0.009	0.14300	B	0.000494	0.43931	N	0.226724	0.847244	0.81001	N	1.87	0.49600	L	2.53	0.14038	T	-0.59	0.17624	N	0.05	0.03841	-1.0342	0.19109	T	0.017	0.06759	T	10	0.061603993	0.07749	T	0.003883	0.09117	T	0.087	0.25287	.	.	0.239901079897	0.23603	0.12192262479882929	0.12119	0.0464318094695	0.05045	0.318187117577	0.13146	T	0.012198	0.10762	T	-0.531894	0.00374	T	-0.72237	0.04682	T	0.0294454943550943	0.01904	T	0.613939	0.23413	T	0.2518089	0.48192	0.14662592	0.34731	0.2518089	0.48192	0.14662592	0.34730	-3.152	0.11903	T	.	.	0.066	0.02145	B	.;.	.;.	1.900173	0.24136	16.28	0.99333555794883477	0.59895	0.55100	0.29780	D	AEFDBCI	0.197782	0.32468	N	-0.256708324795417	0.30837	1.723221	-0.195874142318218	0.31687	1.795675	0.999997525972552	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.527494	0.11647	0	0.655142	0.61905	0	.	.	4.85	3.71	0.41733	2.585000	0.45776	0.630000	0.20219	0.665000	0.62972	0.888000	0.31154	0.001000	0.17328	0.987000	0.62547	0.0:0.0997:0.0:0.9003	7.604	0.27263	825	0.40060	S-100;S-100	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1825.43	46	chr1	153547821	.	T	C	1825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=456;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.366;SOR=0.77	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1837,0,1259	9	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	1110.25	41	chr1	153760378	.	C	G	1110.25	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.62;DP=1190;ExcessHet=2.8389;FS=304.04;InbreedingCoeff=-0.3798;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.05;SOR=11.598	GT:AD:DP:GQ:PL	./.:79,0:79:0:0,0,1267	4	0	5	1
chr1	153776127	153776127	C	-	exonic	SLC27A3	.	frameshift deletion	SLC27A3:NM_001317929:exon1:c.630delC:p.R211Afs*25,SLC27A3:NM_024330:exon1:c.630delC:p.R211Afs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	181.39	30	chr1	153776126	.	TC	T	181.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.647;DP=268;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=1.54;SOR=0.208	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,798	9	0	1	0
chr1	154946734	154946734	G	A	exonic	PBXIP1	.	nonsynonymous SNV	PBXIP1:NM_001317735:exon7:c.C475T:p.R159W,PBXIP1:NM_001317734:exon9:c.C853T:p.R285W,PBXIP1:NM_020524:exon10:c.C940T:p.R314W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0313472216474	7.8e-05	.	7.123e-05	0	0	0	0	8.02e-05	0	0.0002	5.82e-05	9	154602	rs375303520	6.272e-05	6.567e-05	4.515e-05	8.056e-05	0.0002	5.2e-05	4.816e-05	0.0001	0.0001	3.016e-05	6.832e-05	0	7.609e-05	0	0	5.431e-05	8.366e-05	0.0002	6.568e-05	6.566e-05	6.421e-05	6.721e-05	9.645e-05	3.515e-05	2.615e-05	3.761e-05	2.575e-05	9.645e-05	0	0	0	0	0	0	8.818e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.132863	0.18571	N	0.508271	0.994018	0.42131	D	1.895	0.50365	L	2.04	0.20808	T	-6.25	0.90568	D	0.682	0.71942	-1.0678	0.09903	T	0.086	0.33410	T	10	0.72552407	0.73947	D	0.031347	0.53452	D	0.251	0.56024	.	.	0.534955811369	0.53146	0.45851803618548626	0.45769	0.743094374649	0.63370	0.399929404259	0.25058	T	0.251113	0.62131	T	-0.0994137	0.36522	T	-0.116149	0.62116	T	0.434851921669073	0.30240	T	0.926807	0.73035	D	0.2637408	0.49439	0.32675046	0.58579	0.2637408	0.49439	0.32675046	0.58578	-8.189	0.62875	D	.	.	0.203	0.42820	B	.;.	.;.	4.802118	0.78040	26.8	0.99909171674426456	0.97875	0.81682	0.41037	D	AEFBI	0.472167	0.51740	N	0.401262897505603	0.61494	4.351066	0.289818626271806	0.54944	3.658088	0.999557190147903	0.40362	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	1.526000	0.35570	8.523000	0.77429	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.326000	0.25110	0.0:0.0:0.7959:0.2041	9.863	0.40298	327	0.86637	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1855.43	115	chr1	154946734	.	G	A	1855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=0.936;SOR=0.655	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr1	155030158	155030158	G	A	exonic	DCST2	.	nonsynonymous SNV	DCST2:NM_144622:exon7:c.C1103T:p.A368V	.	407	1099	16	0	0	16	0.00722674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00647266852047	0.0007	0.00179712	0.0016	0.0003	0.0018	0	0	0.0012	0.0033	0.0053	0.0014424	223	154602	rs138589439	0.0011	0.0011	0.0009	0.0012	0.0061	0.0010	0.0010	0.0048	0.0047	8.961e-05	0.0015	0.0001	2.519e-05	9.36e-05	0.0061	0.0008	0.0014	0.0052	0.0009	0.0009	0.0010	0.0009	0.0060	0.0008	0.0008	0.0043	0.0037	0.0001	0	0.0024	0	0.0002	9.414e-05	0.0068	0.0009	0.0014	0.0060	0.349	0.12345	T	0.42	0.14116	T	0.288	0.32258	B	0.241	0.38645	B	0.445358	0.12575	N	0.732373	1	0.08975	N	2.47	0.71715	M	1.44	0.32722	T	-1.23	0.31170	N	0.585	0.60579	-1.0305	0.20292	T	0.041	0.17488	T	10	0.006998539	0.00159	T	0.006473	0.17043	T	0.033	0.08068	.	.	0.314716216878	0.31082	0.1180707425201318	0.11734	0.0930818480898	0.10513	0.492610812187	0.37801	T	0.038065	0.24707	T	-0.487804	0.00668	T	-0.472245	0.25274	T	0.0204414593917916	0.00744	T	0.640436	0.25296	T	0.05572035	0.10867	0.09836587	0.23449	0.05572035	0.10866	0.09836587	0.23448	-3.62	0.18147	T	.	.	0.127	0.26855	B	.	.	1.979690	0.25148	16.66	0.98493703486738426	0.42132	0.48899	0.28311	N	AEFGBI	0.209923	0.33587	N	-0.249908420801866	0.31107	1.740991	-0.247199317575445	0.29868	1.676911	0.0119462624476166	0.12258	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.83	0.32150	2.437000	0.44487	2.463000	0.32863	0.676000	0.76740	0.842000	0.30316	0.832000	0.27222	0.399000	0.26759	0.0:0.0:0.6731:0.3269	11.329	0.48702	258	0.89879	Dendritic cell-specific transmembrane protein-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.008152	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1377.43	33	chr1	155030158	.	G	A	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.112;DP=454;ExcessHet=0;FS=3.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.403;SOR=0.487	GT:AD:DP:GQ:PL	0/1:73,66:139:99:1389,0,1746	9	0	1	0
chr1	155046213	155046213	G	A	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon11:c.G1286A:p.S429N,DCST1:NM_152494:exon12:c.G1361A:p.S454N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0115913642887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.10412	T	0.104	0.38450	T	0.143	0.27649	B	0.073	0.28123	B	0.513199	0.05159	N	1.277740	1	0.08975	N	1.01	0.25309	L	1.5	0.31205	T	-0.19	0.10656	N	0.167	0.25130	-1.0556	0.12882	T	0.014	0.05753	T	10	0.08011672	0.12967	T	0.011591	0.29367	T	0.132	0.35948	0.512	0.61000	0.200317383148	0.19677	0.1601382507200254	0.15934	0.148039461621	0.16696	0.323413908482	0.13937	T	0.020553	0.16160	T	-0.36789	0.03702	T	-0.766225	0.02894	T	0.0726329264405066	0.09016	T	0.692231	0.30167	T	0.07355871	0.16444	0.089634866	0.20972	0.07355871	0.16444	0.089634866	0.20971	-5.113	0.39834	T	.	.	0.081	0.10449	B	.;.;.	.;.;.	0.771647	0.11419	8.026	0.91266661991914577	0.20525	0.02446	0.06886	N	AEFBCI	0.054892	0.10020	N	-1.14571836436136	0.05850	0.2677981	-1.22776051707085	0.05468	0.2606267	0.999946708204025	0.47345	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.567339	0.31927	0	.	.	5.12	-6.18	0.01906	0.104000	0.15148	0.040000	0.13855	0.676000	0.76740	0.004000	0.16614	0.000000	0.08366	0.859000	0.40722	0.6865:0.107:0.2065:0.0	10.643	0.44796	225	0.91282	Dendritic cell-specific transmembrane protein-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	78.14	33	chr1	155046213	.	G	A	78.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.844;DP=677;ExcessHet=0.2348;FS=397.328;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.21;ReadPosRankSum=1.77;SOR=9.364	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	8	0	2	0
chr1	155046360	155046360	G	A	exonic	DCST1	.	nonsynonymous SNV	DCST1:NM_001143687:exon12:c.G1294A:p.V432M,DCST1:NM_152494:exon13:c.G1369A:p.V457M	.	422	1099	1	0	0	1	0.000454752	0.0314	0.238	.	2259717	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0114979160094	0.0002	.	9.884e-05	0	8.637e-05	0	0	0.0002	0	0	8.41e-05	13	154602	rs148394630	0.0002	0.0002	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0002	2.987e-05	0.0001	7.652e-05	0	0	0.0007	0.0002	0.0001	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0003	9.746e-05	8.26e-05	0.0001	9.897e-05	4.828e-05	0	0.0003	0.0003	0	0	0	0.0002	0	0	0.236	0.32453	T	0.136	0.34009	T	0.125	0.26866	B	0.082	0.29098	B	0.803156	0.09308	N	0.903666	1	0.08975	N	1.295	0.32453	L	1.38	0.34050	T	-0.93	0.24898	N	0.164	0.23506	-1.0115	0.26447	T	0.013	0.04938	T	9	0.07838631	0.12488	T	0.011498	0.29187	T	0.135	0.36572	.	.	0.15556083564	0.15200	0.22779191405067736	0.22694	0.134461556451	0.15141	0.312601298094	0.12300	T	0.033621	0.22988	T	-0.509388	0.00506	T	-0.663501	0.08032	T	0.0279247593356525	0.01677	T	0.724828	0.33863	T	0.08557956	0.19857	0.0764459	0.16932	0.08557956	0.19857	0.0764459	0.16932	-5.364	0.42856	T	.	.	0.103	0.19679	B	.;.;.	.;.;.	0.856353	0.12288	8.828	0.96628945434406477	0.30509	0.05657	0.11571	N	AEFBHCI	0.131222	0.25007	N	-0.94181015812578	0.09878	0.469469	-1.00124921121159	0.09758	0.487344	0.999737226913218	0.42341	0.581397	0.33459	0	0.547309	0.14657	0	0.527494	0.11647	0	0.622129	0.49086	0	.	.	5.01	-3.41	0.04535	-0.336000	0.07908	-1.236000	0.05946	0.676000	0.76740	0.003000	0.16062	0.000000	0.08366	0.755000	0.35964	0.4649:0.1415:0.2495:0.144	1.725	0.02743	226	0.91233	Dendritic cell-specific transmembrane protein-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1714.43	33	chr1	155046360	.	G	A	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.619;DP=464;ExcessHet=0;FS=8.107;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.895;SOR=0.408	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	9	0	1	0
chr1	155057854	155057854	C	T	exonic	ADAM15	.	nonsynonymous SNV	ADAM15:NM_001261464:exon14:c.C1450T:p.R484C,ADAM15:NM_001261465:exon14:c.C1420T:p.R474C,ADAM15:NM_001261466:exon14:c.C1372T:p.R458C,ADAM15:NM_003815:exon14:c.C1420T:p.R474C,ADAM15:NM_207191:exon14:c.C1420T:p.R474C,ADAM15:NM_207194:exon14:c.C1420T:p.R474C,ADAM15:NM_207195:exon14:c.C1420T:p.R474C,ADAM15:NM_207196:exon14:c.C1420T:p.R474C,ADAM15:NM_207197:exon14:c.C1420T:p.R474C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0355892413859	0.0004	0.000998403	0.0002	0.0020	0	0	0.0002	0	0	0	0.0001746	27	154602	rs115145963	4.313e-05	4.446e-05	5.584e-05	3.028e-05	0.0013	3.445e-05	3.131e-05	0.0010	0.0009	0.0013	0	0	0	7.549e-05	0	2.699e-06	0.0002	2.319e-05	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0004	0.0016	0.0015	0.0019	0	0.0001	0	0	9.409e-05	0	1.47e-05	0.0005	0.0004	0.021	0.65419	D	0.001	0.83351	D	0.998	0.77913	D	0.927	0.66185	D	0.089206	0.20439	N	0.355912	0.996064	0.45795	D	2.87	0.83286	M	2.72	0.11947	T	-5.3	0.86073	D	0.569	0.63374	-1.0247	0.22181	T	0.085	0.33014	T	10	0.053387582	0.05521	T	0.035589	0.56442	D	0.249	0.55752	.	.	0.556302983289	0.55290	0.755635086645834	0.75510	0.951829843149	0.72665	0.385947704315	0.23097	T	0.454988	0.79432	T	-0.319813	0.06912	T	-0.245396	0.50269	T	0.289511951560651	0.24569	T	0.927507	0.76632	D	0.15251178	0.34617	0.15819319	0.36955	0.15251178	0.34617	0.15819319	0.36954	-10.656	0.79079	D	.	.	0.269	0.57085	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.904174	0.80630	27.4	0.99942504269889354	0.99824	0.94308	0.60753	D	AEFDGBCI	0.790271	0.71921	D	0.736419705886516	0.82018	7.660211	0.658865134040338	0.79274	7.047537	0.999999967548277	0.74766	0.743674	0.98306	0	0.633656	0.55848	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	1.904000	0.39498	4.905000	0.45897	0.587000	0.30956	0.962000	0.33725	1.000000	0.68203	0.183000	0.21389	0.1857:0.8142:0.0:0.0	10.996	0.46792	213	0.91726	Disintegrin domain|Disintegrin domain|Disintegrin domain;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1815.43	34	chr1	155057854	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.059;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.308;SOR=0.646	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,107,1276	9	0	1	0
chr1	155188337	155188337	G	C	exonic	MUC1	.	nonsynonymous SNV	MUC1:NM_001204285:exon4:c.C714G:p.H238Q,MUC1:NM_001204286:exon4:c.C741G:p.H247Q,MUC1:NM_001371720:exon7:c.C2979G:p.H993Q	Medullary cystic kidney disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3416359	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.00558521420723	0.0033	0.00159744	0.0026	0.0005	0.0005	0.0003	0.0039	0.0040	0.0023	0.0002	0.0026778	414	154602	rs149945265	0.0051	0.0051	0.0053	0.0049	0.0061	0.0050	0.0049	0.0060	0.0060	0.0009	0.0010	0.0004	2.519e-05	0.0053	0.0005	0.0061	0.0036	0.0002	0.0030	0.0030	0.0032	0.0028	0.0049	0.0028	0.0027	0.0045	0.0043	0.0009	0	0.0016	0	0	0.0048	0.0034	0.0049	0.0019	0.0004	.	.	.	0.56	0.16815	T	.	.	.	.	.	.	0.348778	0.04232	N	1.557480	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.039	0.02861	-0.9847	0.33903	T	0.006	0.02018	T	10	0.003774166	0.00070	T	0.005585	0.14409	T	.	.	0.269	0.21735	0.043077524339	0.03247	0.08347510842830551	0.08281	.	.	0.198374986649	0.00411	T	0.020083	0.15875	T	-0.655426	0.00067	T	-0.710943	0.05247	T	0.000297326507279649	0.00002	T	0.167583	0.02478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.27553	B	.;.;.;.	.;.;.;.	0.079522	0.04858	1.452	0.55443430729333887	0.05343	0.07246	0.13270	N	AEFDBHCI	0.142215	0.26460	N	-1.43282515163466	0.02355	0.1039108	-1.43121926826409	0.02944	0.1364274	0.999966918042273	0.48965	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	2.92	0.97	0.18811	-0.082000	0.11268	0.228000	0.16155	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1279:0.2082:0.6639:0.0	5.649	0.16878	71	0.96981	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1515.43	38	chr1	155188337	.	G	C	1515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.472;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=2.57;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	9	0	1	0
chr1	155330500	155330500	G	T	exonic	RUSC1	.	nonsynonymous SNV	RUSC1:NM_001278228:exon8:c.G1213T:p.D405Y,RUSC1:NM_001278230:exon8:c.G1231T:p.D411Y,RUSC1:NM_001105205:exon9:c.G1408T:p.D470Y,RUSC1:NM_001278227:exon9:c.G1132T:p.D378Y,RUSC1:NM_001278229:exon9:c.G913T:p.D305Y,RUSC1:NM_014328:exon9:c.G1231T:p.D411Y,RUSC1:NM_001105203:exon10:c.G2638T:p.D880Y,RUSC1:NM_001105204:exon10:c.G2320T:p.D774Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.141618114186	0.0017	0.000798722	0.0005	0.0053	0.0007	0	0	0	0	0	0.0004528	70	154602	rs145480281	0.0001	0.0001	0.0002	0.0001	0.0053	0.0001	0.0001	0.0047	0.0044	0.0053	0.0003	0	0	0	0.0002	1.799e-06	0.0003	0	0.0015	0.0016	0.0017	0.0014	0.0055	0.0014	0.0013	0.0049	0.0047	0.0055	0	0.0005	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000158	0.49130	D	0.000000	0.999998	0.58761	D	3.105	0.87672	M	1.36	0.51714	T	-7.9	0.97055	D	0.776	0.87265	-0.3258	0.74257	T	0.282	0.65409	T	10	0.028790653	0.01008	T	0.141618	0.82403	D	0.641	0.86333	.	.	0.811739505708	0.80996	0.848531001063592	0.84814	0.70576254998	0.61413	0.75112080574	0.74612	T	0.412104	0.76636	T	-0.0283281	0.47658	T	0.189561	0.82544	D	0.154013846052468	0.17419	T	0.933007	0.76420	D	0.9352078	0.94761	0.818157	0.89421	0.9352078	0.94761	0.818157	0.89421	-14.44	0.94399	D	.	.	0.681	0.73054	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.266056	0.88424	29.6	0.99212071256926604	0.55624	0.97114	0.72771	D	AEFGBCI	0.948782	0.96076	D	0.535299026305334	0.69193	5.322288	0.426777212876055	0.63237	4.553771	0.999991464358423	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.55	3.62	0.40616	8.738000	0.91265	9.774000	0.81567	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8297:0.1703	12.277	0.54063	43	0.97828	.;SH3 domain|SH3 domain|SH3 domain;.;.;SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1184.43	37	chr1	155330500	.	G	T	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.408;DP=445;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.738;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	9	0	1	0
chr1	155479602	155479602	G	A	exonic	ASH1L	.	nonsynonymous SNV	ASH1L:NM_001366177:exon3:c.C3268T:p.P1090S,ASH1L:NM_018489:exon3:c.C3268T:p.P1090S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0442584402733	.	.	8.245e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs747463993	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.175	0.29945	T	0.028	0.21998	B	0.015	0.22329	B	0.000038	0.55875	D	0.073329	0.857392	0.35327	D	0.345	0.11182	N	-2.64	0.90147	D	-0.79	0.21860	N	0.222	0.24883	-0.5137	0.68150	T	0.350	0.71375	T	10	0.15291053	0.28873	T	0.044258	0.61398	D	0.376	0.69443	0.136	0.04008	0.559299675895	0.55590	0.7111540256327976	0.71057	0.745565018863	0.63500	0.651460587978	0.60193	T	0.013634	0.11757	T	-0.104418	0.35693	T	-0.218637	0.52868	T	0.651881575584412	0.38542	D	0.90371	0.66210	D	0.20994936	0.43277	0.21673544	0.46312	0.20994936	0.43277	0.21673544	0.46311	-2.894	0.09133	T	.	.	0.102	0.31304	B	.;.	.;.	2.875376	0.38031	20.6	0.99269277356024066	0.57491	0.94582	0.61636	D	AEFGBCI	0.300933	0.40959	N	-0.134427667057449	0.35898	2.067991	0.104543035394093	0.44779	2.753245	0.999998341532518	0.74766	0.566229	0.32551	0	0.577304	0.33150	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	6.436000	0.73340	8.666000	0.77991	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.261	0.89972	52	0.97609	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1129.43	35	chr1	155479602	.	G	A	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.598;DP=468;ExcessHet=0;FS=3.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.278;SOR=0.983	GT:AD:DP:GQ:PL	0/1:70,47:117:99:1141,0,1819	9	0	1	0
chr1	155612535	155612535	G	A	exonic	MSTO1	.	nonsynonymous SNV	MSTO1:NM_001256532:exon9:c.G931A:p.E311K,MSTO1:NM_001256533:exon9:c.G931A:p.E311K,MSTO1:NM_001350772:exon9:c.G931A:p.E311K,MSTO1:NM_001350773:exon9:c.G931A:p.E311K,MSTO1:NM_001350774:exon9:c.G931A:p.E311K,MSTO1:NM_001350775:exon9:c.G931A:p.E311K,MSTO1:NM_001350776:exon9:c.G766A:p.E256K,MSTO1:NM_001350777:exon9:c.G400A:p.E134K,MSTO1:NM_001350778:exon9:c.G400A:p.E134K,MSTO1:NM_001350779:exon9:c.G400A:p.E134K,MSTO1:NM_001350780:exon9:c.G397A:p.E133K,MSTO1:NM_001350781:exon9:c.G397A:p.E133K,MSTO1:NM_001350782:exon9:c.G397A:p.E133K,MSTO1:NM_001350783:exon9:c.G397A:p.E133K,MSTO1:NM_001350784:exon9:c.G388A:p.E130K,MSTO1:NM_001350785:exon9:c.G388A:p.E130K,MSTO1:NM_001350786:exon9:c.G397A:p.E133K,MSTO1:NM_001350787:exon9:c.G388A:p.E130K,MSTO1:NM_001350788:exon9:c.G397A:p.E133K,MSTO1:NM_001350789:exon9:c.G388A:p.E130K,MSTO1:NM_018116:exon9:c.G931A:p.E311K	.	.	.	.	.	.	.	.	.	.	.	1371622	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.023	0.00315239018614	0.0002	0.000798722	9.12e-05	0.0010	0	0	0	0	0	6.177e-05	9.7e-05	15	154602	rs149058840	3.765e-05	3.762e-05	4.359e-05	3.164e-05	0.0011	2.961e-05	2.657e-05	0.0008	0.0007	0.0011	2.239e-05	0	0	3.747e-05	0	5.396e-06	0.0001	2.319e-05	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0002	0	0	0.0003	0	1.471e-05	0.0005	0	0.47	0.08483	T	0.835	0.03663	T	0.001	0.07471	B	0.001	0.04355	B	0.193480	0.16784	N	0.605804	1	0.08975	N	1.1	0.28011	L	0.93	0.44065	T	-0.41	0.14000	N	0.156	0.23758	-0.9457	0.41698	T	0.018	0.07329	T	10	0.008788198	0.00199	T	0.003152	0.06876	T	0.023	0.04649	.	.	0.0716867268079	0.06686	0.5001452844135879	0.49935	0.548597812381	0.51797	0.349145442247	0.17797	T	0.00127	0.00758	T	-0.530671	0.00380	T	-0.594241	0.13300	T	0.00365277862045141	0.00039	T	0.762724	0.40920	T	0.020860644	0.00661	0.040193457	0.04289	0.020860644	0.00661	0.040193457	0.04289	-0.303	0.00659	T	.	.	0.082	0.10449	B	.;.;.	.;.;.	2.133290	0.27159	17.37	0.66476607270756138	0.08070	0.34847	0.25164	N	AEFBI	0.210421	0.33631	N	-1.36959779841228	0.02927	0.1299859	-1.37330132618091	0.03539	0.1652785	6.64698718344127E-5	0.04366	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.44	-0.672	0.10805	0.791000	0.26577	2.973000	0.35807	-0.451000	0.05143	0.405000	0.26210	0.999000	0.35428	0.074000	0.16894	0.0912:0.5176:0.3912:0.0	9.255	0.36735	79	0.96716	.;DML1/Misato, tubulin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1456.43	36	chr1	155612535	.	G	A	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.168;DP=446;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=1.52;QD=12.24;ReadPosRankSum=-0.264;SOR=0.782	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	155613731	155613731	C	T	exonic	MSTO1	.	nonsynonymous SNV	MSTO1:NM_001256532:exon13:c.C1463T:p.P488L,MSTO1:NM_001256533:exon13:c.C1463T:p.P488L,MSTO1:NM_001350772:exon13:c.C1463T:p.P488L,MSTO1:NM_001350775:exon13:c.C1463T:p.P488L,MSTO1:NM_001350776:exon13:c.C1298T:p.P433L,MSTO1:NM_001350777:exon13:c.C932T:p.P311L,MSTO1:NM_001350778:exon13:c.C932T:p.P311L,MSTO1:NM_001350779:exon13:c.C932T:p.P311L,MSTO1:NM_001350780:exon13:c.C929T:p.P310L,MSTO1:NM_001350781:exon13:c.C929T:p.P310L,MSTO1:NM_001350782:exon13:c.C929T:p.P310L,MSTO1:NM_001350783:exon13:c.C929T:p.P310L,MSTO1:NM_001350784:exon13:c.C920T:p.P307L,MSTO1:NM_001350785:exon13:c.C920T:p.P307L,MSTO1:NM_001350787:exon13:c.C920T:p.P307L,MSTO1:NM_001350788:exon13:c.C929T:p.P310L,MSTO1:NM_001350789:exon13:c.C920T:p.P307L,MSTO1:NM_018116:exon13:c.C1463T:p.P488L	.	439	1068	15	0	0	15	0.0069735	.	.	.	1666768	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	.	0.0002	.	0.0036	0	0.0038	0	0	0.0015	0.0067	0.0146	3.84e-05	1	26028	rs371544149	0.0012	0.0020	0.0009	0.0014	0.0081	0.0011	0.0011	0.0076	0.0074	5.979e-05	0.0012	3.855e-05	5.04e-05	7.513e-05	0.0054	0.0008	0.0011	0.0081	0.0004	0.0008	0.0003	0.0004	0.0038	0.0003	0.0003	0.0024	0.0020	0.0001	0	0.0003	0	0	0	0	0.0004	0.0010	0.0038	0.297	0.24661	T	0.301	0.20486	T	0.001	0.18677	B	0.0	0.11217	B	0.288099	0.14819	N	0.678176	1	0.81001	D	0.345	0.11182	N	1.0	0.44856	T	-0.78	0.21644	N	0.101	0.15469	-0.9575	0.39644	T	0.015	0.05994	T	10	0.014746696	0.00310	T	.	.	.	0.016	0.02506	.	.	0.0986583533028	0.09354	0.22886159292364927	0.22801	1.92971752332	0.93121	0.345399171114	0.17243	T	0.00542	0.04871	T	-0.600092	0.00146	T	-0.628652	0.10516	T	0.0033788561413463	0.00036	T	0.632737	0.24712	T	0.021096935	0.00696	0.018753054	0.00065	0.021096935	0.00695	0.018753054	0.00065	-1.94	0.17582	T	.	.	0.069	0.13268	B	.;.	.;.	1.294612	0.16958	12.87	0.58853663848333626	0.06088	0.02482	0.06953	N	AEFGBI	0.065274	0.12723	N	-1.38921320159355	0.02738	0.1213502	-1.39531347365755	0.03301	0.1537373	4.84865797646949E-5	0.03989	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	2.65	1.48	0.21900	0.578000	0.23476	1.800000	0.28874	-0.304000	0.06167	0.003000	0.16062	0.314000	0.24288	0.002000	0.04165	0.7133:0.2867:0.0:0.0	5.718	0.17238	79	0.96716	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005896	0.000000	0.004098	0.017391	0.000000	0.008929	0.003704	0.000000	0.05	188.43	34	chr1	155613731	.	C	T	188.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.266;DP=399;ExcessHet=0;FS=2.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.5;MQRankSum=-1.144;QD=2.42;ReadPosRankSum=-0.47;SOR=0.427	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	9	0	1	0
chr1	155672661	155672661	A	C	exonic	YY1AP1	.	nonsynonymous SNV	YY1AP1:NM_001198899:exon4:c.T449G:p.L150R,YY1AP1:NM_001198900:exon6:c.T449G:p.L150R,YY1AP1:NM_001198901:exon6:c.T482G:p.L161R,YY1AP1:NM_001198902:exon6:c.T482G:p.L161R,YY1AP1:NM_001198903:exon6:c.T896G:p.L299R,YY1AP1:NM_001198904:exon6:c.T896G:p.L299R,YY1AP1:NM_001198905:exon7:c.T482G:p.L161R,YY1AP1:NM_001198906:exon7:c.T680G:p.L227R,YY1AP1:NM_139118:exon7:c.T680G:p.L227R,YY1AP1:NM_139119:exon7:c.T482G:p.L161R,YY1AP1:NM_139121:exon7:c.T284G:p.L95R,YY1AP1:NM_018253:exon8:c.T449G:p.L150R	Grange syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.00949780109909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.951	0.62824	P	0.635	0.63994	P	0.013182	0.28922	N	0.328703	1	0.81001	D	2.35	0.67516	M	1.73	0.26445	T	-3.11	0.68880	D	0.731	0.79118	-1.0848	0.06444	T	0.062	0.25780	T	10	0.5763751	0.65603	D	0.009498	0.24878	T	0.254	0.56428	0.63	0.76588	0.311387274539	0.30754	0.5337163673123786	0.53296	4.21975213468	0.99912	.	.	.	0.071838	0.42882	T	0.0972592	0.63996	D	-0.0980703	0.63546	T	0.960421681404114	0.65801	D	0.934407	0.79983	D	0.35027304	0.57089	0.34613362	0.60286	0.35027304	0.57089	0.34613362	0.60285	-13.707	0.92065	D	.	.	0.389	0.64970	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.902791	0.56863	23.8	0.99604413473544207	0.74397	0.77920	0.38370	D	AEFGBI	0.406889	0.47920	N	0.32243740077672	0.57301	3.897023	0.252574331488877	0.52794	3.452032	0.403597934810199	0.20151	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	3.4	2.28	0.27583	1.425000	0.34467	3.345000	0.37739	0.641000	0.52212	0.876000	0.30908	0.996000	0.32793	0.991000	0.66497	0.7871:0.0:0.2129:0.0	5.720	0.17252	77	0.96778	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1747.43	136	chr1	155672661	.	A	C	1747.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.532;DP=453;ExcessHet=0;FS=3.073;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.33;MQRankSum=0.212;QD=12.85;ReadPosRankSum=0.2;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	9	0	1	0
chr1	155688975	155688975	A	T	exonic	YY1AP1	.	startloss	YY1AP1:NM_001198906:exon1:c.T2A:p.M1?,YY1AP1:NM_139118:exon1:c.T2A:p.M1?	Grange syndrome, Autosomal recessive	425	1095	2	0	0	2	0.000912409	.	.	.	3235107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0018	0.00339457	0.0012	0.0078	0.0012	0	0	0.0007	0.0051	7.424e-05	0.0008603	133	154602	rs147058489	0.0005	0.0005	0.0004	0.0005	0.0055	0.0004	0.0004	0.0048	0.0046	0.0055	0.0010	0.0044	0	0	0.0023	0.0002	0.0014	1.171e-05	0.0016	0.0016	0.0017	0.0015	0.0047	0.0014	0.0014	0.0042	0.0040	0.0047	0	0.0009	0.0043	0	0	0	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.81001	N	.	.	.	1.9	0.23486	T	0.55	0.02721	N	0.14	0.13911	-0.9680	0.37612	T	0.012	0.04700	T	8	0.005469829	0.00121	T	.	.	.	0.108	0.30607	.	.	0.110078149338	0.10416	.	.	.	.	.	.	.	8.6E-4	0.00434	T	-0.438373	0.01322	T	-0.39944	0.33450	T	0.0226630873927602	0.00984	T	0.9	0.65058	D	0.6814045	0.77045	0.5347397	0.73115	0.6814045	0.77046	0.5347397	0.73116	-6.437	0.49798	T	.	.	.	.	.	.	.	0.131048	0.05267	1.766	0.79099128018095721	0.12590	0.01014	0.03823	N	ALL	0.009606	0.00058	N	-1.48445676468462	0.01959	0.08603364	-1.64295274284065	0.01413	0.0638672	0.999999999999999	0.74766	0.006267	0.00052	3	0.218748	0.04544	0	0.47417	0.07244	0	0.249971	0.05119	0	.	.	2.1	-4.2	0.03562	-0.679000	0.05304	-2.175000	0.04103	-2.162000	0.00369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2108:0.166:0.2818:0.3414	0.303	0.00257	68	0.97118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	725.43	35	chr1	155688975	.	A	T	725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.527;SOR=0.746	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1277	9	0	1	0
chr1	155736985	155736985	G	A	exonic	DAP3	.	nonsynonymous SNV	DAP3:NM_001199850:exon11:c.G931A:p.V311I,DAP3:NM_001199851:exon11:c.G910A:p.V304I,DAP3:NM_004632:exon12:c.G1033A:p.V345I,DAP3:NM_033657:exon12:c.G1033A:p.V345I,DAP3:NM_001199849:exon13:c.G1033A:p.V345I	.	429	1075	16	2	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0048	0.00279553	0.0052	0.0019	0.0066	0.0002	0.0014	0.0071	0.0121	0.0022	0.0051552	797	154602	rs41264967	0.0061	0.0061	0.0060	0.0061	0.0189	0.0060	0.0059	0.0160	0.0149	0.0017	0.0054	0.0033	2.52e-05	0.0014	0.0189	0.0069	0.0067	0.0026	0.0050	0.0050	0.0050	0.0049	0.0094	0.0047	0.0046	0.0081	0.0076	0.0014	0	0.0094	0.0035	0	0.0009	0.0102	0.0075	0.0062	0.0019	0.133	0.29029	T	0.073	0.43344	T	0.562	0.38380	P	0.369	0.43514	B	0.000002	0.62929	N	0.059383	0.999979	0.81001	D	2.12	0.58754	M	0.44	0.56609	T	-0.82	0.22508	N	0.144	0.15469	-0.9405	0.42536	T	0.109	0.39509	T	10	0.006095886	0.00137	T	.	.	.	0.078	0.22779	.	.	0.177238962908	0.17366	0.5527289742262145	0.55198	0.285031543082	0.30913	0.424291908741	0.28427	T	0.157525	0.50016	T	-0.475524	0.00786	T	-0.450706	0.27618	T	0.0373678571600398	0.03221	T	0.760924	0.47282	T	0.041589677	0.06152	0.053059533	0.08865	0.041589677	0.06152	0.053059533	0.08864	-3.823	0.26534	T	.	.	0.092	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	3.455295	0.48139	22.6	0.99417193392196113	0.63597	0.95591	0.65334	D	AEFGBI	0.664566	0.63369	D	0.19180980770286	0.50805	3.26717	0.282922501680218	0.54541	3.618891	0.775429456120125	0.23744	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	5.446000	0.66347	7.197000	0.57788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0803:0.0:0.9197:0.0	12.782	0.56859	68	0.97118	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.023098	0.014620	0.050000	0.017241	0.003049	0.015152	0.05	1044.43	35	chr1	155736985	.	G	A	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=411;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.087;SOR=0.909	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1247	9	0	1	0
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	756.7	39	chr1	156011827	.	G	A	756.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.875;DP=704;ExcessHet=0.7463;FS=223.895;InbreedingCoeff=-0.1843;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=2.76;ReadPosRankSum=-1.04;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:99:0|1:156011822_G_A:239,0,2567:156011822	7	0	3	0
chr1	156070169	156070169	C	T	exonic	RAB25	.	nonsynonymous SNV	RAB25:NM_020387:exon5:c.C524T:p.A175V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	.	0.0081	0.00579073	0.0023	0.0260	0.0009	0	0	5.998e-05	0.0022	0.0002	0.0021151	327	154602	rs115837676	0.0008	0.0008	0.0009	0.0007	0.0285	0.0008	0.0008	0.0270	0.0264	0.0285	0.0013	0	2.519e-05	0	0.0007	5.755e-05	0.0019	4.637e-05	0.0074	0.0075	0.0077	0.0071	0.0258	0.0071	0.0069	0.0246	0.0240	0.0258	0	0.0027	0	0	0	0	0.0001	0.0028	0	0.005	0.63226	D	0.175	0.29945	T	0.022	0.18677	B	0.004	0.10090	B	0.022433	0.26635	N	0.395029	1	0.08975	N	0.55	0.14455	N	-1.33	0.79854	T	-1.21	0.30762	N	0.158	0.16447	-0.8817	0.49625	T	0.150	0.47663	T	10	0.0042161047	0.00084	T	.	.	.	0.220	0.51569	.	.	0.858240277356	0.85687	0.23380549069321818	0.23295	0.243594810527	0.26860	0.350413203239	0.17982	T	0.149844	0.48904	T	-0.489369	0.00655	T	-0.454771	0.27170	T	0.0197421261421836	0.00676	T	0.963704	0.86510	D	0.38913482	0.59970	0.15663357	0.36663	0.38913482	0.59970	0.15663357	0.36662	-4.662	0.32941	T	.	.	0.112	0.21877	B	.	.	2.415790	0.31060	18.63	0.9875093679476652	0.45663	0.06776	0.12799	N	AEFDBI	0.095118	0.19222	N	-0.720540562378742	0.15446	0.7784293	-0.598130323963859	0.19541	1.048929	0.999999898429567	0.74766	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.505526	0.08623	0	.	.	5.85	4.94	0.64645	0.912000	0.28220	1.395000	0.26148	-0.180000	0.10397	0.000000	0.06391	0.001000	0.17328	0.970000	0.54328	0.1671:0.8329:0.0:0.0	12.485	0.55209	330	0.86467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	290.43	33	chr1	156070169	.	C	T	290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.459;DP=279;ExcessHet=0;FS=1.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.994;SOR=1.059	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,646	9	0	1	0
chr1	156130624	156130624	A	C	exonic	LMNA	.	nonsynonymous SNV	LMNA:NM_001257374:exon2:c.A28C:p.K10Q,LMNA:NM_001282626:exon2:c.A364C:p.K122Q,LMNA:NM_005572:exon2:c.A364C:p.K122Q,LMNA:NM_170707:exon2:c.A364C:p.K122Q,LMNA:NM_170708:exon2:c.A364C:p.K122Q,LMNA:NM_001282624:exon3:c.A121C:p.K41Q,LMNA:NM_001282625:exon5:c.A364C:p.K122Q	Cardiomyopathy, dilated, 1A, Autosomal dominant;Charcot-Marie-Tooth disease, type 2B1, Autosomal recessive;Emery-Dreifuss muscular dystrophy 2, AD, Autosomal dominant;Emery-Dreifuss muscular dystrophy 3, AR, Autosomal recessive;Heart-hand syndrome, Slovenian type, Autosomal dominant;Hutchinson-Gilford progeria, Autosomal recessive, Autosomal dominant;Lipodystrophy, familial partial, type 2, Autosomal dominant;Malouf syndrome, Autosomal dominant;Mandibuloacral dysplasia, Autosomal recessive;Muscular dystrophy, congenital, Autosomal dominant;Muscular dystrophy, limb-girdle, type 1B, Autosomal dominant;Restrictive dermopathy, lethal, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	941493	Charcot-Marie-Tooth_disease_type_2	MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.785	0.700936323316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.004	0.74150	D	0.995	0.90584	D	0.923	0.88582	D	0.000011	0.62929	D	0.000000	1	0.81001	D	3.195	0.89043	M	-2.5	0.89219	D	-3.62	0.69593	D	0.742	0.78927	0.883	0.95446	D	0.831	0.94323	D	10	0.8462578	0.83791	D	0.700936	0.97553	D	0.785	0.92868	0.476	0.55342	0.95379636513	0.95330	0.9347807112865993	0.93458	2.17208794008	0.95515	0.734671473503	0.72190	T	0.948675	0.99245	D	0.251363	0.78729	D	0.123289	0.78453	D	0.997497737407684	0.91692	D	0.927907	0.84692	D	0.90443045	0.91782	0.8361415	0.90585	0.90443045	0.91783	0.8361415	0.90586	-8.22	0.62828	D	0.8656807242806425	0.92787	0.617	0.72737	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.828728	0.78718	27.0	0.99489176942466961	0.67347	0.81985	0.41285	D	AEFGBHCI	0.977621	0.99731	D	0.94125837257953	0.93628	12.16762	0.884790392516744	0.94874	13.11609	1.0	0.98316	0.675202	0.55065	0	0.696144	0.67643	0	0.779548	0.98927	0	0.756233	0.99697	0	.	.	5.59	5.59	0.84677	9.277000	0.94963	11.226000	0.89934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.718	0.62189	447	0.79583	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;.;Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1535.43	35	chr1	156130624	.	A	C	1535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=460;ExcessHet=0;FS=2.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-0.357;SOR=0.944	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1336	9	0	1	0
chr1	156244810	156244810	G	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.C44T:p.S15L,PAQR6:NM_001272112:exon4:c.C44T:p.S15L,PAQR6:NM_001272113:exon4:c.C44T:p.S15L,PAQR6:NM_001272110:exon6:c.C44T:p.S15L,PAQR6:NM_001272111:exon6:c.C44T:p.S15L	.	404	1060	53	5	0	63	0.0288594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.00539137	0.0075	0.0028	0.0040	0.0013	0.0013	0.0082	0.0103	0.0155	0.007115	1100	154602	rs62001925	0.0076	0.0076	0.0073	0.0079	0.0232	0.0075	0.0074	0.0200	0.0188	0.0018	0.0053	0.0135	0.0006	0.0010	0.0232	0.0074	0.0097	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0017	0.0006	0.0340	0.0076	0.0114	0.0170	.	.	.	.	.	.	0.083	0.24734	B	0.017	0.18140	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.0033493936	0.00058	T	.	.	.	.	.	.	.	0.458101713262	0.45433	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.438103	0.01327	T	-0.389108	0.34655	T	.	.	.	0.320168	0.06459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.56442	A	.;.;.	.;.;.	1.484603	0.19108	14.09	0.89943610925400397	0.19240	0.35978	0.25427	N	AEFDGBCI	0.008851	0.00045	N	.	.	.	.	.	.	0.999988333354985	0.51787	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.88	-1.29	0.08805	0.152000	0.16120	-0.014000	0.13018	-0.667000	0.04321	0.974000	0.34632	0.019000	0.20708	0.966000	0.53164	0.6058:0.0:0.3942:0.0	9.663	0.39134	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.008174	0.026316	0.000000	0.017241	0.030488	0.026515	0.1	1764.14	35	chr1	156244810	.	G	A	1764.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.24;DP=437;ExcessHet=0.2348;FS=8.795;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.079;SOR=1.167	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1350	8	0	2	0
chr1	156244850	156244850	C	A	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272109:exon4:c.G4T:p.A2S,PAQR6:NM_001272112:exon4:c.G4T:p.A2S,PAQR6:NM_001272113:exon4:c.G4T:p.A2S,PAQR6:NM_001272108:exon5:c.G338T:p.G113V,PAQR6:NM_001272107:exon6:c.G353T:p.G118V,PAQR6:NM_001272110:exon6:c.G4T:p.A2S,PAQR6:NM_001272111:exon6:c.G4T:p.A2S,PAQR6:NM_024897:exon6:c.G353T:p.G118V,PAQR6:NM_001272104:exon7:c.G671T:p.G224V,PAQR6:NM_198406:exon7:c.G671T:p.G224V,PAQR6:NM_001272105:exon8:c.G662T:p.G221V	.	411	1053	53	5	0	63	0.0290456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0077	0.00539137	0.0075	0.0027	0.0041	0.0013	0.0013	0.0081	0.0104	0.0155	0.007031	1087	154602	rs34514408	0.0075	0.0075	0.0072	0.0078	0.0231	0.0074	0.0074	0.0199	0.0187	0.0018	0.0053	0.0135	0.0006	0.0010	0.0231	0.0073	0.0096	0.0160	0.0060	0.0060	0.0060	0.0059	0.0170	0.0057	0.0055	0.0140	0.0129	0.0023	0.0230	0.0070	0.0115	0.0015	0.0006	0.0340	0.0076	0.0114	0.0170	0.167	0.23095	T	0.492	0.11479	T	0.019	0.17989	B	0.054	0.25828	B	0.033899	0.24840	N	0.457104	0.999514	0.47363	D	0.55	0.14455	N	1.83	0.24841	T	-0.68	0.21860	N	0.204	0.22614	-1.0048	0.28517	T	0.011	0.04227	T	10	0.003630519	0.00066	T	.	.	.	0.052	0.14661	.	.	0.0482279557977	0.04254	0.32600190541541246	0.32513	0.334413534742	0.35461	0.279182732105	0.07379	T	0.007823	0.07202	T	-0.421076	0.01683	T	-0.364649	0.37514	T	0.00801896257458957	0.00095	T	0.876612	0.58915	D	0.11884558	0.27995	0.081639044	0.18570	0.11884558	0.27994	0.081639044	0.18570	-3.89	0.22152	T	.	.	0.261	0.49548	B	.;.;.;.	.;.;.;.	0.764935	0.11347	7.965	0.85823210976325426	0.16135	0.26439	0.22993	N	AEFDGBHCI	0.240262	0.36208	N	-0.82651249844731	0.12635	0.6171331	-0.711710759728758	0.16670	0.8829094	0.999997013756232	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.606735	0.37207	0	0.664235	0.64389	0	.	.	4.64	2.7	0.31007	-0.096000	0.11027	-0.102000	0.11930	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.840000	0.39645	0.0:0.5923:0.3213:0.0864	7.627	0.27385	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.009511	0.023392	0.000000	0.017241	0.024390	0.026515	0.1	1221.14	35	chr1	156244850	.	C	A	1221.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.303;DP=410;ExcessHet=0.2348;FS=2.507;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.28;SOR=1.02	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1350	8	0	2	0
chr1	156266009	156266009	G	A	exonic	SMG5	.	nonsynonymous SNV	SMG5:NM_001323615:exon11:c.C1489T:p.R497W,SMG5:NM_001323614:exon12:c.C1627T:p.R543W,SMG5:NM_015327:exon12:c.C1627T:p.R543W,SMG5:NM_001323616:exon13:c.C1429T:p.R477W,SMG5:NM_001323617:exon13:c.C1429T:p.R477W	.	424	1041	53	4	0	61	0.0284648	.	.	.	696155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0071	0.00419329	0.0066	0.0016	0.0043	0.0001	0.0012	0.0082	0.0088	0.0102	0.0064035	990	154602	rs34377219	0.0073	0.0073	0.0071	0.0074	0.0224	0.0071	0.0071	0.0192	0.0180	0.0013	0.0055	0.0153	0.0001	0.0010	0.0224	0.0073	0.0092	0.0116	0.0055	0.0056	0.0058	0.0053	0.0118	0.0052	0.0051	0.0094	0.0085	0.0014	0.0220	0.0067	0.0144	0.0002	0.0006	0.0340	0.0076	0.0095	0.0118	0.006	0.61437	D	0.018	0.59732	D	0.476	0.36665	P	0.153	0.34292	B	0.290797	0.14772	N	0.672822	1	0.30179	N	0	0.06538	N	1.4	0.33630	T	-2.03	0.46673	N	0.316	0.35620	-1.0481	0.14932	T	0.026	0.11131	T	10	0.0035678446	0.00064	T	.	.	.	0.048	0.13305	.	.	0.176862962021	0.17281	0.1836607337102502	0.18285	0.413816520075	0.42075	0.314859569073	0.12643	T	0.057437	0.30565	T	-0.512611	0.00485	T	-0.499711	0.22378	T	0.0143363421666053	0.00286	T	0.858514	0.54939	D	0.07342955	0.16406	0.09569561	0.22706	0.07342955	0.16406	0.09569561	0.22705	-6.201	0.47931	T	.	.	0.091	0.13315	B	.	.	4.092404	0.60962	24.3	0.99873603549208556	0.95076	0.77767	0.38276	D	AEFGBCI	0.454368	0.50710	N	0.0271364480227597	0.43090	2.608939	0.194113991504032	0.49524	3.154545	0.999994183624492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.468000	0.44759	6.509000	0.55803	0.676000	0.76740	0.969000	0.34210	0.999000	0.35428	0.985000	0.61073	0.0:0.0:0.8388:0.1612	13.027	0.58226	290	0.88477	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.000000	0.006793	0.026316	0.000000	0.017241	0.030488	0.030303	0.1	3420.14	35	chr1	156266009	.	G	A	3420.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.22;DP=549;ExcessHet=0.2348;FS=8.743;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.787;SOR=1.107	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1150	8	0	2	0
chr1	156286326	156286326	G	A	exonic	TMEM79	.	nonsynonymous SNV	TMEM79:NM_032323:exon3:c.G824A:p.R275Q	.	424	1095	2	1	0	4	0.00182315	.	.	.	3346718	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0073702272211	.	0.000199681	9.884e-05	0	0	0	0	8.991e-05	0	0.0004	8.41e-05	13	154602	rs563432840	9.029e-05	9.029e-05	7.487e-05	0.0001	0.0010	7.756e-05	7.299e-05	0.0005	0.0004	2.987e-05	4.472e-05	0	0	1.872e-05	0.0010	5.755e-05	0.0001	0.0006	5.909e-05	5.906e-05	5.139e-05	6.713e-05	0.0002	3.075e-05	2.208e-05	2.846e-05	1.858e-05	4.812e-05	0	0	0	0	0	0.0034	7.35e-05	0	0.0002	0.204	0.20078	T	0.068	0.44106	T	1.0	0.90584	D	0.963	0.70837	D	0.000023	0.55875	D	0.119737	0.881298	0.81001	D	0.805	0.20218	L	0.81	0.48460	T	-0.75	0.21003	N	0.348	0.38950	-0.9853	0.33760	T	0.092	0.35228	T	10	0.11419988	0.21478	T	0.00737	0.19550	T	0.121	0.33580	0.178	0.08503	0.681910643822	0.67920	0.5500008909859297	0.54926	0.514453030111	0.49391	0.419773578644	0.27804	T	0.010794	0.09711	T	-0.317163	0.07132	T	-0.343928	0.39899	T	0.136413872241974	0.15962	T	0.810819	0.46223	T	0.1695698	0.37482	0.11221706	0.27075	0.1695698	0.37481	0.11221706	0.27074	-4.527	0.31240	T	.	.	0.080	0.08705	B	.;.	.;.	4.084862	0.60795	24.3	0.99928683316686795	0.99222	0.93565	0.58564	D	AEFBI	0.111304	0.22041	N	0.43651303808014	0.63442	4.578004	0.510910853603495	0.68723	5.259655	0.999986309560583	0.51787	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	5.93	4.97	0.65419	2.595000	0.45861	4.490000	0.43568	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1544:0.8456:0.0	13.698	0.62073	292	0.88363	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.000000	0.000000	0.000000	0.008621	0.012195	0.011364	0.05	1291.43	37	chr1	156286326	.	G	A	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.267;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.443;SOR=0.724	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr1	156540761	156540761	T	C	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon23:c.A2686G:p.N896D	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00580005554818	7.7e-05	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	4.53e-05	7	154602	rs375740683	2.668e-05	2.668e-05	1.77e-05	3.575e-05	0.0007	1.997e-05	1.754e-05	0.0002	0.0001	0	0	0	0	0	0.0007	2.158e-05	6.623e-05	8.115e-05	3.286e-05	3.284e-05	5.138e-05	1.346e-05	5.881e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0.0005	0	0.177	0.22224	T	0.125	0.35330	T	0.007	0.14184	B	0.007	0.12992	B	0.000024	0.55875	N	0.113488	0.999271	0.46519	D	0.435	0.12660	N	4.24	0.02590	T	-2.77	0.58733	D	0.166	0.17553	-0.8762	0.50059	T	0.003	0.00961	T	10	0.16625154	0.31051	T	0.006	0.15072	T	0.065	0.18881	.	.	0.451977122513	0.44822	0.16711482203155092	0.16631	0.161022513929	0.18171	0.692071557045	0.66004	T	0.458239	0.79629	T	-0.501371	0.00562	T	-0.639888	0.09677	T	0.189784124493599	0.19831	T	0.962504	0.85970	D	0.2373407	0.46596	0.20957264	0.45307	0.2373407	0.46596	0.20957264	0.45306	-4.728	0.33742	T	.	.	0.076	0.05979	B	.	.	2.192177	0.27955	17.64	0.99477642361498841	0.66687	0.90151	0.51104	D	AEFGBI	0.477277	0.52033	N	-0.341222458799971	0.27597	1.515335	-0.17823099981469	0.32339	1.838841	0.999997330685392	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.8	3.67	0.41236	1.318000	0.33249	1.849000	0.29243	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.656	0.33224	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	34	chr1	156540761	.	T	C	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.112;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.764;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	9	0	1	0
chr1	156556535	156556535	C	G	exonic	IQGAP3	.	nonsynonymous SNV	IQGAP3:NM_178229:exon12:c.G1288C:p.G430R	.	.	.	.	.	.	.	.	0.0046	0.046	.	3213075	IQGAP3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.114	0.0125381385936	0.0018	0.000798722	0.0006	0.0066	0.0003	0.0001	0	0	0	0	0.0004851	75	154602	rs146377246	0.0001	0.0002	0.0002	0.0001	0.0048	0.0001	0.0001	0.0042	0.0040	0.0048	0.0003	0	0.0001	0	0.0003	2.698e-06	0.0005	4.638e-05	0.0018	0.0018	0.0019	0.0017	0.0061	0.0016	0.0015	0.0055	0.0053	0.0061	0	0.0008	0	0	0	0	0	0.0009	0.0004	0.149	0.24758	T	0.032	0.53426	D	0.041	0.21357	B	0.039	0.23607	B	0.000000	0.84330	D	0.000000	0.999043	0.45943	D	0.205	0.09354	N	3.26	0.06681	T	-1.25	0.31576	N	0.144	0.14480	-0.9831	0.34281	T	0.008	0.02968	T	10	0.0037704408	0.00070	T	0.012538	0.31203	T	0.114	0.32008	0.263	0.20788	0.450441870249	0.44665	0.21246526222129045	0.21162	0.261551509834	0.28701	0.346369355917	0.17386	T	0.181014	0.53254	T	-0.605316	0.00135	T	-0.640629	0.09623	T	0.0298280792966551	0.01964	T	0.639136	0.25234	T	0.05960371	0.12133	0.07860749	0.17622	0.05960371	0.12132	0.07860749	0.17622	-2.923	0.09375	T	.	.	0.197	0.41858	B	.	.	2.486477	0.32075	18.93	0.99270229255369458	0.57525	0.64219	0.32337	D	AEFDBI	0.274300	0.38952	N	-0.285632596110898	0.29703	1.649531	-0.164503629453805	0.32854	1.87333	0.997311527316791	0.35488	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.54	3.5	0.39181	0.043000	0.13855	0.557000	0.19475	-0.251000	0.07141	0.006000	0.17386	0.148000	0.23153	0.357000	0.25818	0.1591:0.6001:0.154:0.0868	4.266	0.10210	665	0.61472	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	839.43	38	chr1	156556535	.	C	G	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.734;DP=425;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.224;SOR=0.404	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	9	0	1	0
chr1	156581456	156581456	G	A	exonic	TTC24	.	nonsynonymous SNV	TTC24:NM_001105669:exon2:c.G92A:p.R31Q	.	431	1063	27	1	0	29	0.0134571	.	.	.	4020733	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.066	.	.	0.00519169	0.0086	0.0028	0.01	0	0.0130	0.0157	0.0044	0.0024	0.0026196	405	154602	rs192869620	0.0078	0.0074	0.0078	0.0077	0.0348	0.0076	0.0076	0.0309	0.0293	0.0020	0.0085	0.0317	0	0.0091	0.0348	0.0077	0.0100	0.0019	0.0076	0.0076	0.0076	0.0075	0.0144	0.0072	0.0071	0.0129	0.0123	0.0019	0	0.0144	0.0349	0	0.0088	0.0408	0.0087	0.0123	0.0019	0.798	0.03134	T	1.0	0.01155	T	.	.	.	.	.	.	0.694981	0.10143	N	0.820698	1	0.08975	N	-1.295	0.00719	N	-1.06	0.76819	T	0.51	0.02898	N	0.031	0.00770	-1.0441	0.16089	T	0.048	0.20355	T	8	0.003119409	0.00052	T	.	.	.	0.066	0.19193	.	.	0.0846915920261	0.08053	0.046677210505106946	0.04610	0.108947013883	0.12287	0.207851052284	0.00723	T	2.54E-4	0.00056	T	-0.62291	0.00106	T	-0.657156	0.08460	T	0.00621195902304562	0.00069	T	0.359064	0.08235	T	0.026803896	0.01785	0.025499392	0.00596	0.026803896	0.01784	0.025499392	0.00596	-4.317	0.28414	T	.	.	0.059	0.00820	B	.;.	.;.	-0.712542	0.01291	0.069	0.33188039571582323	0.01964	0.00266	0.01451	N	AEFGBI	0.032074	0.03554	N	-1.19098200561426	0.05136	0.2334128	-1.26074243739387	0.04974	0.2359242	0.999930896805824	0.46732	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.23	-1.72	0.07671	-0.333000	0.07938	0.016000	0.13516	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3363:0.1592:0.3497:0.1549	1.432	0.02194	693	0.58582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.030374	0.026596	0.040698	0.048387	0.083333	0.062500	0.026882	0.032609	0.05	1155.43	39	chr1	156581456	.	G	A	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=0.638;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	9	0	1	0
chr1	156624642	156624642	C	T	exonic	HAPLN2	.	nonsynonymous SNV	HAPLN2:NM_021817:exon6:c.C598T:p.L200F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00800657912396	.	.	9.977e-06	0	0	0	0	0	0	6.818e-05	6.5e-06	1	154602	rs776528716	2.398e-05	2.394e-05	1.908e-05	2.892e-05	0.0002	1.741e-05	1.541e-05	0.0002	0.0001	0	0	0	0	0	0	1.259e-05	1.659e-05	0.0002	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.094	0.31383	T	0.135	0.34124	T	0.889	0.48869	P	0.593	0.50536	P	0.209583	0.16398	N	0.592517	0.603789	0.32561	D	.	.	.	3.13	0.08014	T	-0.94	0.25118	N	0.394	0.43514	-1.0920	0.05207	T	0.018	0.07329	T	10	0.23278126	0.40281	T	0.008007	0.21239	T	0.069	0.20116	0.502	0.59460	0.370240404367	0.36630	0.5208849167594674	0.52011	1.80444484246	0.91712	0.650962233543	0.60121	T	0.097504	0.40039	T	-0.378315	0.03192	T	-0.5776	0.14760	T	0.952314853668213	0.63762	D	0.940406	0.77539	D	0.1644761	0.36658	0.18386339	0.41403	0.1644761	0.36657	0.18386339	0.41402	-8.883	0.66940	D	.	.	0.232	0.46551	B	.	.	4.103029	0.61189	24.3	0.99704661778408465	0.80867	0.78401	0.38674	D	AEFDBHCIJ	0.240609	0.36237	N	0.00239475873754683	0.41965	2.519661	-0.0796192300717251	0.36233	2.106074	0.999999999999959	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.19	4.19	0.48645	0.167000	0.16419	5.708000	0.49410	0.587000	0.30956	0.000000	0.06391	1.000000	0.68203	0.352000	0.25704	0.1874:0.8126:0.0:0.0	10.943	0.46495	719	0.55657	Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1438.43	42	chr1	156624642	.	C	T	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=465;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.154;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr1	156813855	156813855	G	A	exonic	SH2D2A	.	nonsynonymous SNV	SH2D2A:NM_001161443:exon4:c.C476T:p.A159V,SH2D2A:NM_001161441:exon5:c.C590T:p.A197V,SH2D2A:NM_001161442:exon5:c.C506T:p.A169V,SH2D2A:NM_001161444:exon5:c.C560T:p.A187V,SH2D2A:NM_003975:exon5:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	0.0026	0.000399361	0.0079	0.0020	0.0051	0	0	0.0110	0	0.0124	0.0013066	202	154602	rs199586383	0.0025	0.0024	0.0025	0.0024	0.0028	0.0024	0.0024	0.0027	0.0027	0.0006	0.0012	0	2.786e-05	5.705e-05	0	0.0028	0.0022	0.0021	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0024	0.0004	0.0044	0.0010	0.0003	0	0	0	0.0028	0.0024	0.0017	0.289	0.16848	T	0.651	0.06713	T	0.003	0.21357	B	0.005	0.15521	B	0.284711	0.14880	N	0.624103	0.756475	0.33988	D	1.895	0.50365	L	-4.04	0.96465	D	-1.37	0.35991	N	0.093	0.12341	-0.4721	0.69651	T	0.504	0.81320	D	10	0.007780671	0.00177	T	.	.	.	0.168	0.42943	.	.	0.899822391244	0.89883	0.1759909973790141	0.17518	0.305991248268	0.32896	0.379221498966	0.22146	T	0.357927	0.72456	T	-0.348605	0.04816	T	-0.277514	0.47059	T	0.003489781747641	0.00037	T	0.685131	0.29365	T	0.04844297	0.08443	0.07700268	0.17110	0.04844297	0.08442	0.07700268	0.17109	-9.691	0.72492	D	.	.	0.110	0.28607	B	.;.;.	.;.;.	2.586173	0.33543	19.37	0.9866349418081114	0.44372	0.59911	0.31046	D	AEFDGBHCI	0.112140	0.22177	N	-0.648590566709788	0.17501	0.9011313	-0.555242081298587	0.20667	1.114501	0.999999999999905	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.249971	0.05119	0	.	.	4.87	2.83	0.32150	0.688000	0.25103	3.565000	0.39102	0.676000	0.76740	0.196000	0.24261	1.000000	0.68203	0.417000	0.27162	0.1139:0.0:0.6689:0.2172	4.674	0.12089	706	0.57215	.;SH2D2A, SH2 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002651	0.000000	0.004167	0.002959	0.000000	0.000000	0.000000	0.003846	0.05	539.43	36	chr1	156813855	.	G	A	539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.686;DP=354;ExcessHet=0;FS=2.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.114;SOR=0.304	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	9	0	1	0
chr1	156906751	156906751	C	T	exonic	PEAR1	.	nonsynonymous SNV	PEAR1:NM_001080471:exon6:c.C515T:p.P172L,PEAR1:NM_001353682:exon6:c.C323T:p.P108L,PEAR1:NM_001353683:exon7:c.C323T:p.P108L	.	408	1107	7	0	0	7	0.00315173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	.	.	0.00778754	0.0044	0	0	0	0	0.0002	0.0011	0.0317	0.0038809	600	154602	rs150756495	0.0020	0.0020	0.0012	0.0028	0.0294	0.0019	0.0019	0.0284	0.0280	5.974e-05	0.0001	0	5.038e-05	0	0.0014	0.0002	0.0018	0.0294	0.0009	0.0009	0.0006	0.0013	0.0273	0.0008	0.0008	0.0235	0.0221	7.215e-05	0	6.531e-05	0	0	0	0	8.819e-05	0	0.0273	0.166	0.91255	T	0.641	0.92824	T	0.999	0.77913	D	0.899	0.63802	P	0.000154	0.49130	D	0.000000	0.999186	0.46274	D	0.755	0.19153	N	1.42	0.33842	T	-2.01	0.52128	N	0.248	0.28498	-1.1053	0.03507	T	0.087	0.33634	T	9	0.003223002	0.00055	T	.	.	.	0.155	0.40530	.	.	0.370789594751	0.36692	0.3037308238689374	0.30286	0.665093408823	0.59118	0.4376912117	0.30262	T	0.005733	0.05178	T	-0.419639	0.01719	T	-0.351874	0.38991	T	0.0634809934303742	0.07705	T	0.646635	0.46941	T	0.09234668	0.21661	0.08665678	0.20092	0.09234668	0.21661	0.08665678	0.20092	-8.063	0.61499	D	.	.	0.113	0.27553	B	.;.;.	.;.;.	3.867641	0.56134	23.7	0.9961555568950391	0.75112	0.92570	0.56022	D	AEFGBI	0.457199	0.50874	N	0.32455226443108	0.57411	3.908349	0.30190875673106	0.55650	3.728034	0.999999980784135	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	4.81	4.81	0.61401	-0.191000	0.09598	4.835000	0.45233	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.110000	0.18741	0.0:1.0:0.0:0.0	15.405	0.74596	403	0.82567	Laminin EGF domain|EGF-like domain;.;Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	1281.43	38	chr1	156906751	.	C	T	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=461;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.535;SOR=0.81	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr1	156930528	156930528	G	C	splicing	LRRC71	NM_144702:exon12:c.1241-1G>C	.	.	.	423	1087	11	1	0	13	0.00594422	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.00379393	0.0070	0.0008	0.0040	0	0	0.0032	0.0038	0.0163	0.0020957	324	154602	rs147334331	0.0028	0.0028	0.0025	0.0032	0.0153	0.0028	0.0027	0.0146	0.0143	0.0003	0.0010	0.0028	0	0.0006	0.0039	0.0023	0.0023	0.0153	0.0018	0.0018	0.0016	0.0019	0.0151	0.0016	0.0015	0.0123	0.0113	0.0003	0	0.0008	0.0043	0	0.0006	0	0.0023	0	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.101625	0.36157	T	0.0935698	0.76483	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.960962	0.94191	33	0.9949467236067302	0.67687	0.84566	0.43649	D	AEFBCI	.	.	.	1.00135432233439	0.95784	13.96329	0.831559637646466	0.91895	11.12489	0.999999971560932	0.74766	0.080785	0.02172	0	0.109994	0.03358	0	0.059349	0.00372	0	0.10565	0.03146	0	0.973784	0.76300	5.29	5.29	0.74430	2.501000	0.45049	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	14.303	0.65922	432	0.80690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	719.43	34	chr1	156930528	.	G	C	719.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.522;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=-0.706;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	9	0	1	0
chr1	156940227	156940227	G	A	exonic	ARHGEF11	.	nonsynonymous SNV	ARHGEF11:NM_001377419:exon35:c.C3683T:p.A1228V,ARHGEF11:NM_014784:exon35:c.C3593T:p.A1198V,ARHGEF11:NM_001377418:exon36:c.C3704T:p.A1235V,ARHGEF11:NM_198236:exon36:c.C3713T:p.A1238V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.0600349748213	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910764584	6.938e-07	2.736e-06	1.374e-06	0	3.018e-05	0	0	.	.	3.018e-05	0	0	0	0	0	0	0	0	6.569e-06	6.566e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.006	0.70582	D	0.999	0.77913	D	0.996	0.84481	D	0.000200	0.48115	D	0.000000	0.98725	0.40560	D	1.1	0.28011	L	-1.01	0.76168	T	-2.65	0.56787	D	0.461	0.55019	-0.0713	0.80751	T	0.427	0.76995	T	10	0.6293131	0.68424	D	0.060035	0.67865	D	0.443	0.74588	0.395	0.42099	0.801561714105	0.79970	0.6666119313950198	0.66599	0.258236123232	0.28380	0.537907242775	0.44150	T	0.124093	0.44889	T	0.182799	0.72301	D	0.0248023	0.71942	D	0.978821158409119	0.72519	D	0.913509	0.69206	D	0.43022442	0.62767	0.4602937	0.68652	0.43022442	0.62767	0.4602937	0.68653	-6.638	0.51365	T	.	.	0.661	0.72234	P	.;.	.;.	4.818992	0.78469	26.9	0.99927078806231329	0.99163	0.98541	0.83887	D	AEFDGBI	0.645383	0.62130	D	0.525984061660263	0.68632	5.243886	0.492872878537632	0.67515	5.094588	0.999709898602751	0.41986	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.16	4.16	0.48138	6.512000	0.73648	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.0:0.0:1.0:0.0	15.396	0.74510	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	626.43	35	chr1	156940227	.	G	A	626.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=345;ExcessHet=0;FS=3.377;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.013;SOR=1.489	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	9	0	1	0
chr1	156955795	156955795	C	T	exonic	ARHGEF11	.	nonsynonymous SNV	ARHGEF11:NM_014784:exon19:c.G1556A:p.S519N,ARHGEF11:NM_001377418:exon20:c.G1667A:p.S556N,ARHGEF11:NM_001377419:exon20:c.G1676A:p.S559N,ARHGEF11:NM_198236:exon20:c.G1676A:p.S559N	.	.	.	.	.	.	.	.	.	.	.	3900797	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0188369550673	.	0.000199681	9.061e-05	0	0	0	0	1.499e-05	0	0.0006	7.76e-05	12	154602	rs550151475	3.079e-05	3.078e-05	1.634e-05	4.539e-05	0.0005	2.348e-05	2.096e-05	0.0004	0.0003	0	0	7.653e-05	0	0	0.0002	0	0	0.0005	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.003	0.72154	D	0.44	0.13557	T	0.997	0.77913	D	0.962	0.81110	D	0.000008	0.62929	D	0.000000	0.999884	0.50402	D	0.895	0.22405	L	-0.34	0.68474	T	-0.57	0.17210	N	0.321	0.41754	-0.5964	0.64963	T	0.268	0.63950	T	10	0.123061955	0.23355	T	0.018837	0.41032	T	0.153	0.40148	.	.	0.68401747171	0.68132	0.3245054759554571	0.32363	1.12892997129	0.78538	0.59618729353	0.52366	T	0.062535	0.31943	T	-0.255054	0.13485	T	-0.254713	0.49350	T	0.229235264488341	0.21915	T	0.809419	0.45992	T	0.25164515	0.48174	0.26515263	0.52344	0.25164515	0.48174	0.26515263	0.52343	-6.695	0.59375	T	.	.	0.339	0.56696	B	.;.	.;.	4.715157	0.75784	26.4	0.9953964778501162	0.70398	0.99169	0.92246	D	AEFBI	0.710240	0.66407	D	0.544845695469903	0.69767	5.404189	0.572087954019005	0.72944	5.890715	0.999999956316099	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	6.051000	0.70697	4.831000	0.45200	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.888	0.88779	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1271.43	35	chr1	156955795	.	C	T	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.446;DP=431;ExcessHet=0;FS=3.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.347;SOR=0.59	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	9	0	1	0
chr1	157521164	157521164	C	A	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon11:c.G2368T:p.D790Y,FCRL5:NM_031281:exon11:c.G2368T:p.D790Y	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.00308278874523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.99	0.63424	D	0.805	0.58399	P	0.000004	0.00162	N	9.161920	1	0.08975	N	3.65	0.94181	H	3.88	0.03570	T	-2.45	0.53577	N	0.461	0.49783	-1.0359	0.18575	T	0.020	0.08407	T	10	0.47874936	0.60302	T	0.003083	0.06666	T	0.177	0.44549	0.599	0.72984	0.215869574891	0.21205	0.6032734905686179	0.60258	0.445249767331	0.44419	0.317561626434	0.13051	T	0.004145	0.03552	T	-0.143905	0.29269	T	-0.444486	0.28306	T	0.981991112232208	0.74231	D	0.748325	0.36895	T	0.26618183	0.49687	0.161177	0.37504	0.26618183	0.49687	0.161177	0.37503	-8.832	0.66609	D	.	.	0.167	0.36752	B	.	.	1.842110	0.23403	16.00	0.74596532273866234	0.10754	0.03973	0.09385	N	AEFDBI	0.053980	0.09774	N	-0.593100787822683	0.19154	1.000198	-0.887737345457211	0.12383	0.6367052	0.145564031409397	0.17351	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.34	-4.23	0.03530	-0.344000	0.07829	-4.167000	0.02304	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.289:0.0:0.711	11.976	0.52383	856	0.34373	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2524.43	34	chr1	157521164	.	C	A	2524.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.978;DP=535;ExcessHet=0;FS=0.487;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.693;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	9	0	1	0
chr1	157524551	157524551	A	G	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon10:c.T1967C:p.V656A,FCRL5:NM_031281:exon10:c.T1967C:p.V656A	.	410	1104	8	0	0	8	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0027	0	0	0.0001	0	1.53e-05	0.0012	0.0227	0.0022445	347	154602	rs369557186	0.0011	0.0011	0.0005	0.0017	0.0181	0.0011	0.0010	0.0174	0.0171	0	0	0	5.088e-05	0	0.0009	5.467e-06	0.0012	0.0181	0.0007	0.0007	0.0004	0.0010	0.0210	0.0006	0.0005	0.0177	0.0164	2.523e-05	0	0	0	0	0	0	1.47e-05	0	0.0210	0.107	0.29554	T	0.32	0.19131	T	0.204	0.29802	B	0.1	0.30674	B	.	.	.	.	0.99896	0.22253	N	1.695	0.43389	L	3.93	0.03435	T	-1.58	0.38151	N	0.262	0.29659	-0.9479	0.41330	T	0.003	0.01026	T	9	0.003702104	0.00068	T	.	.	.	0.014	0.01968	0.372	0.38340	0.115124310173	0.11017	0.126260073752703	0.12552	0.110544938361	0.12480	0.37901031971	0.22116	T	0.003419	0.02829	T	-0.62078	0.00109	T	-0.648227	0.09078	T	0.0223756344928609	0.00951	T	0.707329	0.31793	T	0.027784029	0.02020	0.031413727	0.01727	0.027784029	0.02019	0.031413727	0.01727	-8.125	0.62162	D	.	.	0.159	0.41932	B	.;.	.;.	0.940373	0.13162	9.661	0.70427798974680356	0.09292	0.38289	0.25955	N	AEFGBI	0.087630	0.17767	N	-0.880255248068911	0.11313	0.54528	-0.854551474002846	0.13178	0.682235	0.999910294143059	0.45857	0.730579	0.87903	0	0.749866	0.99406	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.69	0.885	0.18323	0.957000	0.28812	0.523000	0.19181	0.665000	0.62972	0.824000	0.30046	0.000000	0.08366	0.120000	0.19168	0.6102:0.1813:0.2085:0.0	3.930	0.08779	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2559.43	34	chr1	157524551	.	A	G	2559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=483;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.756;SOR=0.744	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	9	0	1	0
chr1	157544364	157544364	T	C	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.A742G:p.T248A,FCRL5:NM_031281:exon5:c.A742G:p.T248A	.	436	1077	9	0	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00233255892326	0.0002	0.000199681	0.0014	0.0002	0.0059	0	0	0.0005	0.0066	0.0036	0.001119	173	154602	rs150471028	0.0005	0.0005	0.0004	0.0007	0.0037	0.0005	0.0005	0.0034	0.0033	0	0.0023	3.826e-05	0	0.0001	0.0017	0.0003	0.0007	0.0037	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0002	0.0013	0.0010	0	0	0.0003	0	0	0	0	0.0005	0	0.0023	0.312	0.32141	T	0.246	0.23984	T	0.006	0.13644	B	0.007	0.12992	B	0.005592	0.01086	N	3.156860	1	0.08975	N	-0.02	0.05091	N	2.69	0.12268	T	-0.52	0.16187	N	0.039	0.01577	-0.9764	0.35816	T	0.003	0.00897	T	10	0.0052937865	0.00116	T	0.002333	0.04507	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.12379366770929005	0.12305	0.0670969358633	0.07497	0.2436953336	0.03133	T	0.002525	0.01914	T	-0.702593	0.00035	T	-0.784108	0.02331	T	0.0185076876855515	0.00566	T	0.157784	0.02071	T	0.013218225	0.00053	0.012743719	0.00000	0.013218225	0.00053	0.012743719	0.00000	-4.475	0.30705	T	.	.	0.067	0.08802	B	.;.;.	.;.;.	-1.381155	0.00374	0.007	0.35035392882797511	0.02176	0.00710	0.03005	N	AEFBI	0.055559	0.10200	N	-2.12225312794012	0.00114	0.004894654	-2.18613977114946	0.00120	0.005281627	0.998474159038588	0.37033	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.3	-8.6	0.00773	-2.409000	0.01119	-3.779000	0.02542	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2864:0.0881:0.2148:0.4107	1.389	0.02112	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1173.43	37	chr1	157544364	.	T	C	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=532;ExcessHet=0;FS=0.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.522;SOR=0.836	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	9	0	1	0
chr1	157544427	157544427	G	A	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.C679T:p.R227C,FCRL5:NM_031281:exon5:c.C679T:p.R227C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00282910298456	.	.	4.119e-05	0	8.637e-05	0.0001	0	0	0	0.0002	3.23e-05	5	154602	rs746634732	8.209e-06	8.209e-06	8.167e-06	8.25e-06	5.974e-05	4.38e-06	3.46e-06	9.89e-06	4.56e-06	5.974e-05	2.236e-05	0	2.519e-05	0	0	3.597e-06	1.656e-05	3.478e-05	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.453	0.21304	T	0.187	0.28764	T	0.005	0.15914	B	0.008	0.13708	B	0.242755	0.15676	N	0.475521	1	0.08975	N	-0.075	0.04822	N	2.65	0.12676	T	4.77	0.00028	N	0.067	0.21056	-0.9523	0.40573	T	0.003	0.00961	T	10	0.011374414	0.00249	T	0.002829	0.05927	T	0.012	0.01476	.	.	0.0666544352282	0.05500	0.2390212975382651	0.23816	0.0897401850087	0.10134	0.203575700521	0.00568	T	0.004385	0.03788	T	-0.522544	0.00425	T	-0.762673	0.03018	T	0.011982790180236	0.00188	T	0.293371	0.05593	T	0.022156626	0.00859	0.024708627	0.00495	0.022156626	0.00859	0.024708627	0.00495	-1.979	0.03103	T	.	.	0.077	0.22135	B	.;.;.	.;.;.	-0.181950	0.03184	0.523	0.80721495991041581	0.13337	0.00652	0.02836	N	AEFBI	0.059644	0.11279	N	-1.83407733690235	0.00467	0.02009447	-1.86595429104485	0.00570	0.02530869	0.324030500427617	0.19413	0.736574	0.97449	0	0.732669	0.95671	0	0.491513	0.07944	0	0.663205	0.64265	0	.	.	4.23	-6.08	0.01969	-0.807000	0.04627	-1.243000	0.05927	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4101:0.112:0.3659:0.1121	2.977	0.05578	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1405.43	37	chr1	157544427	.	G	A	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=489;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.39;SOR=0.584	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	9	0	1	0
chr1	157696237	157696237	G	T	exonic	FCRL3	.	nonsynonymous SNV	FCRL3:NM_001320333:exon7:c.C935A:p.A312D,FCRL3:NM_052939:exon7:c.C935A:p.A312D	.	425	1093	4	0	0	4	0.00182648	.	.	.	3185040	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.00493325533998	0.0062	0.00279553	0.0048	0.0015	0.0027	0	0.0045	0.0074	0.0044	0.0004	0.0049547	766	154602	rs115903952	0.0075	0.0075	0.0077	0.0073	0.0086	0.0074	0.0074	0.0085	0.0084	0.0011	0.0050	0.0172	0	0.0035	0.0050	0.0086	0.0071	0.0009	0.0054	0.0054	0.0057	0.0052	0.0076	0.0051	0.0050	0.0070	0.0068	0.0017	0.0044	0.0076	0.0153	0	0.0050	0.0034	0.0076	0.0062	0.0008	0.124	0.27426	T	0.339	0.18071	T	0.566	0.39915	P	0.142	0.37929	B	0.019201	0.27313	N	0.174549	1	0.08975	N	2.75	0.80375	M	2.32	0.16640	T	-2.67	0.57110	D	0.462	0.50508	-1.0508	0.14175	T	0.047	0.20156	T	10	0.005212784	0.00113	T	0.004933	0.12411	T	0.177	0.44549	.	.	0.409800938858	0.40592	0.22419077476748778	0.22334	0.0226205030519	0.02283	0.399206340313	0.24957	T	0.012942	0.11287	T	-0.474931	0.00792	T	-0.445587	0.28184	T	0.0324991904981843	0.02389	T	0.560744	0.19617	T	0.3363554	0.55988	0.37444058	0.62609	0.3363554	0.55988	0.37444058	0.62609	-9.316	0.69959	D	.	.	0.147	0.35767	B	.;.	.;.	2.676138	0.34902	19.75	0.99433577622096525	0.64374	0.08416	0.14348	N	AEFBI	0.115972	0.22780	N	-0.279748884527827	0.29931	1.664283	-0.392544628364154	0.25217	1.385516	0.015718760464501	0.12746	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.21	4.28	0.50183	1.177000	0.31578	1.258000	0.25213	0.676000	0.76740	0.003000	0.16062	0.001000	0.17328	0.562000	0.30459	0.0:0.1785:0.8215:0.0	11.724	0.50964	814	0.42100	.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	rs115903952	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.005051	0.004076	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	1181.43	34	chr1	157696237	.	G	T	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.427;DP=427;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.945;SOR=0.822	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	9	0	1	0
chr1	158076175	158076175	G	A	exonic	KIRREL1	.	nonsynonymous SNV	KIRREL1:NM_018240:exon2:c.G115A:p.V39M	.	421	1100	1	0	0	1	0.000454339	.	.	.	1292033	KIRREL1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.597	.	0.0046	0.00139776	0.0046	0.0007	0.0020	0	0.0059	0.0067	0.0101	0.0023	0.0047218	730	154602	rs191487619	0.0057	0.0057	0.0058	0.0057	0.0067	0.0056	0.0056	0.0066	0.0066	0.0007	0.0028	0.0014	7.557e-05	0.0050	0.0009	0.0067	0.0044	0.0021	0.0053	0.0053	0.0055	0.0052	0.0084	0.0050	0.0049	0.0079	0.0076	0.0009	0.0515	0.0054	0.0012	0	0.0043	0	0.0084	0.0043	0.0027	0.054	0.38633	T	0.089	0.40426	T	0.993	0.65571	D	0.787	0.57594	P	0.006240	0.32178	N	0.000000	0.997744	0.81001	D	2.17	0.60663	M	-1.86	0.84341	D	-1.04	0.27259	N	0.415	0.45520	0.204	0.85983	D	0.574	0.84612	D	10	0.015240014	0.00320	T	.	.	.	0.597	0.84019	.	.	0.568754408454	0.56541	0.44904209097404263	0.44822	1.47171924055	0.86544	0.504406690598	0.39442	T	0.132691	0.46292	T	-0.291188	0.09518	T	-0.180017	0.56521	T	0.0207765111737248	0.00777	T	0.978202	0.92336	D	0.08305481	0.19163	0.11911126	0.28752	0.08305481	0.19163	0.11911126	0.28751	-8.812	0.66479	D	.	.	0.165	0.36455	B	.	.	3.795213	0.54648	23.5	0.99852534487736688	0.93191	0.62370	0.31761	D	AEFDGBI	0.140532	0.26246	N	0.360675556810863	0.59304	4.108862	0.280592473543201	0.54406	3.605799	0.990255732915063	0.32091	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.37	3.46	0.38718	0.401000	0.20673	5.117000	0.47558	0.676000	0.76740	0.025000	0.20085	1.000000	0.68203	0.995000	0.73285	0.0975:0.0:0.9025:0.0	10.683	0.45024	878	0.29785	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1574.43	40	chr1	158076175	.	G	A	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.404;DP=459;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.09;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1071	9	0	1	0
chr1	158606703	158606703	G	A	exonic	OR10Z1	.	nonsynonymous SNV	OR10Z1:NM_001004478:exon1:c.G265A:p.D89N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00344666877125	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762941391	4.789e-06	4.788e-06	2.723e-06	6.876e-06	5.797e-05	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	4.472e-05	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.07163	T	0.595	0.08079	T	0.001	0.07471	B	0.001	0.04355	B	0.205631	0.03350	N	1.747910	1	0.08975	N	-0.09	0.04745	N	4.08	0.03003	T	1.15	0.01151	N	0.073	0.04668	-0.9066	0.47262	T	0.002	0.00615	T	10	0.04290232	0.03085	T	0.003447	0.07786	T	0.005	0.00259	0.262	0.20631	0.101711395817	0.09552	0.04160838191088692	0.04105	0.00421502833054	0.00371	0.222309291363	0.01447	T	3.65E-4	0.00107	T	-0.591742	0.00164	T	-0.911926	0.00424	T	0.0358584012878096	0.02957	T	0.0781922	0.00576	T	0.03220403	0.03201	0.02769015	0.00941	0.03220403	0.03201	0.02769015	0.00941	-3.891	0.22167	T	.	.	0.075	0.06896	B	.;.	.;.	0.225777	0.06078	2.519	0.48319316409408242	0.04022	0.04574	0.10220	N	AEFI	0.091263	0.18488	N	-1.44398463990084	0.02264	0.09980777	-1.4492750445393	0.02776	0.1283239	0.0212390250387999	0.13331	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	-3.4	0.04549	-0.492000	0.06547	0.214000	0.15995	-0.706000	0.03979	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.6685:0.1237:0.2078:0.0	9.044	0.35496	544	0.72685	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2389.43	35	chr1	158606703	.	G	A	2389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=537;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.204;SOR=0.677	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	9	0	1	0
chr1	158606922	158606922	G	T	exonic	OR10Z1	.	nonsynonymous SNV	OR10Z1:NM_001004478:exon1:c.G484T:p.V162F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0006	0.00139776	0.0002	0.0028	0	0	0	0	0	0	0.0002393	37	154602	rs28565358	5.815e-05	5.814e-05	6.67e-05	4.951e-05	0.0019	4.81e-05	4.431e-05	0.0016	0.0014	0.0019	2.238e-05	0	0	0	0.0005	8.993e-07	0.0002	1.159e-05	0.0005	0.0005	0.0004	0.0006	0.0019	0.0004	0.0004	0.0016	0.0015	0.0019	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.037	0.43085	D	0.309	0.19782	T	0.008	0.14655	B	0.03	0.21741	B	0.002119	0.37227	N	0.000000	0.949365	0.26539	N	-1.065	0.01049	N	8.67	0.00132	T	-1.0	0.26422	N	0.161	0.16864	-1.0310	0.20131	T	0.000	0.00011	T	10	0.00790894	0.00179	T	.	.	.	0.278	0.59497	.	.	0.0611884634855	0.05136	0.15951465696642345	0.15872	0.0126296370296	0.01203	0.268116354942	0.05897	T	0.004733	0.04144	T	-0.407185	0.02075	T	-0.364145	0.37572	T	0.017984722155551	0.00523	T	0.173983	0.01665	T	0.13199739	0.30749	0.09990703	0.23871	0.13199739	0.30749	0.09990703	0.23870	-3.429	0.15449	T	.	.	0.101	0.21390	B	.;.	.;.	1.670072	0.21294	15.14	0.93698019407559896	0.23608	0.13182	0.17710	N	AEFI	0.184670	0.31200	N	-0.914371658187264	0.10506	0.5023356	-0.782667235362204	0.14919	0.78211	0.0200022593305227	0.13217	0.500041	0.20204	0	0.573888	0.26702	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	5.36	3.5	0.39181	-0.499000	0.06494	2.796000	0.34824	0.672000	0.70159	0.000000	0.06391	0.997000	0.33255	0.323000	0.25040	0.2495:0.1584:0.5921:0.0	4.746	0.12411	544	0.72685	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3082.43	35	chr1	158606922	.	G	T	3082.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.404;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.031;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1245	9	0	1	0
chr1	158635967	158635967	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon38:c.G5378A:p.R1793Q	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	276701	Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3|not_provided	MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.367	0.0902625210776	0.0015	0.000399361	0.0013	0.0003	0.0003	0.0001	0.0006	0.0021	0.0033	0.0006	0.0012678	196	154602	rs200938874	0.0018	0.0018	0.0018	0.0018	0.0018	0.0017	0.0017	0.0017	0.0017	0.0004	0.0003	0.0155	5.038e-05	0.0006	0.0016	0.0018	0.0022	0.0006	0.0013	0.0013	0.0012	0.0014	0.0016	0.0012	0.0011	0.0013	0.0012	0.0003	0	0.0005	0.0141	0.0004	0.0008	0	0.0016	0.0043	0.0006	0.023	0.48186	D	0.004	0.74150	D	1.0	0.90584	D	0.994	0.82059	D	0.012655	0.29101	N	0.000000	0.999969	0.52935	D	2.43	0.70455	M	0.56	0.54540	T	-3.44	0.67477	D	0.739	0.73916	-0.5707	0.65986	T	0.310	0.68085	T	10	0.009819269	0.00220	T	0.090263	0.75484	D	0.367	0.68670	.	.	0.711956708817	0.70943	0.2637236965323406	0.26285	0.234002417915	0.25937	0.359785854816	0.19354	T	0.456702	0.79536	T	-0.208883	0.19537	T	-0.0974499	0.63595	T	0.0325640788605959	0.02399	T	0.968103	0.88413	D	0.8250712	0.85564	0.69526035	0.82059	0.8015135	0.84004	0.7078286	0.82772	-6.059	0.46770	T	0.6496440464384736	0.72159	0.127	0.27131	B	.;.	.;.	3.820922	0.55171	23.6	0.99941914639889184	0.99824	0.98337	0.81764	D	AEFBI	0.923805	0.90086	D	0.753758718908584	0.83151	7.942375	0.695342416779889	0.82023	7.665841	0.999999993920296	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	7.537000	0.80946	4.816000	0.45080	0.599000	0.40250	1.000000	0.71638	0.971000	0.29754	0.906000	0.44173	0.0:1.0:0.0:0.0	18.470	0.90715	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.050000	0.000000	0.003049	0.000000	0.05	1434.43	33	chr1	158635967	.	C	T	1434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=460;ExcessHet=0;FS=0.601;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=1.47;SOR=0.634	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr1	158667914	158667914	C	T	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon15:c.G1982A:p.R661H	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	277722	not_specified|SPTA1-related_disorder|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|Hereditary_spherocytosis_type_3|not_provided	MedGen:CN169374|.|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.239	0.244912499966	0.0012	0.00139776	0.0016	0.0008	0.0017	0.0001	0.0002	0.0013	0.0033	0.0048	0.0016041	248	154602	rs201845149	0.0018	0.0018	0.0017	0.0019	0.0057	0.0018	0.0018	0.0053	0.0051	0.0008	0.0009	0.0023	0	1.872e-05	0.0024	0.0017	0.0019	0.0057	0.0016	0.0016	0.0012	0.0019	0.0066	0.0014	0.0013	0.0048	0.0042	0.0006	0.0219	0.0018	0.0020	0.0002	0	0	0.0019	0.0005	0.0066	0.015	0.52492	D	0.0	0.92824	D	0.381	0.34388	B	0.292	0.40739	B	0.005757	0.32538	N	0.000000	0.999957	0.52396	D	2.65	0.77586	M	0.47	0.56114	T	-4.17	0.75456	D	0.643	0.65501	-0.8007	0.55103	T	0.136	0.45087	T	10	0.013627291	0.00288	T	0.244912	0.88864	D	0.239	0.54358	.	.	0.774208327972	0.77213	0.25969210225389694	0.25883	0.233724262705	0.25910	0.346686273813	0.17433	T	0.544069	0.84441	D	-0.297188	0.08927	T	-0.197747	0.54859	T	0.0621641350942771	0.07505	T	0.676232	0.28483	T	0.19862653	0.41773	0.16974567	0.39032	0.21184751	0.43520	0.1790239	0.40609	-6.629	0.51274	T	0.7337995041507219	0.81557	0.146	0.32251	B	.;.	.;.	3.717497	0.53105	23.3	0.99911957871752299	0.98095	0.94279	0.60662	D	AEFBI	0.512283	0.54056	D	-0.022429841843719	0.40841	2.432441	-0.0515949214927823	0.37420	2.190834	0.563869069234512	0.21436	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.83	3.91	0.44383	4.494000	0.60068	3.289000	0.37290	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.755000	0.35964	0.1574:0.8426:0.0:0.0	13.451	0.60621	603	0.67726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1230.43	33	chr1	158667914	.	C	T	1230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.12;DP=400;ExcessHet=0;FS=5.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.992;SOR=0.309	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1213	9	0	1	0
chr1	158776822	158776822	G	A	exonic	OR6N2	.	stopgain	OR6N2:NM_001005278:exon1:c.C814T:p.R272X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.00199681	0.0005	0.0047	0.0003	0.0001	0	1.499e-05	0.0011	6.057e-05	0.0004334	67	154602	rs77219835	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0048	0.0045	0.0054	0.0003	0	2.519e-05	0	0.0002	1.349e-05	0.0003	8.116e-05	0.0014	0.0014	0.0015	0.0013	0.0050	0.0012	0.0012	0.0045	0.0043	0.0050	0	0.0001	0	0.0002	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.006423	0.32040	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.03	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224489	0.76201	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	6.240476	0.94860	34	0.99716865990042314	0.81773	0.32668	0.24642	N	AEFBI	0.095776	0.19345	N	0.647386305680163	0.76198	6.442715	0.423610101376671	0.63039	4.530031	0.0197975753587638	0.13196	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.74	4.74	0.59717	0.338000	0.19599	-0.245000	0.10556	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.294000	0.24357	0.0:0.0:0.8039:0.1961	10.333	0.43017	853	0.34956	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2272.43	39	chr1	158776822	.	G	A	2272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.376;DP=491;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.604;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	9	0	1	0
chr1	159015883	159015883	G	A	exonic	IFI16	.	nonsynonymous SNV	IFI16:NM_001206567:exon3:c.G277A:p.A93T,IFI16:NM_001376587:exon3:c.G277A:p.A93T,IFI16:NM_001376592:exon3:c.G277A:p.A93T,IFI16:NM_005531:exon3:c.G277A:p.A93T,IFI16:NM_001364867:exon4:c.G277A:p.A93T,IFI16:NM_001376588:exon4:c.G277A:p.A93T,IFI16:NM_001376589:exon4:c.G277A:p.A93T,IFI16:NM_001376591:exon4:c.G277A:p.A93T	.	428	1078	15	1	0	17	0.00782329	.	.	.	2806089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00359428024699	0.0052	0.00239617	0.0054	0.0013	0.0030	0	0.0023	0.0077	0.0066	0.0049	0.005401	835	154602	rs116270651	0.0063	0.0064	0.0063	0.0064	0.0073	0.0062	0.0062	0.0071	0.0071	0.0007	0.0044	0.0003	0	0.0027	0.0043	0.0073	0.0060	0.0049	0.0053	0.0053	0.0055	0.0052	0.0085	0.0050	0.0049	0.0079	0.0077	0.0014	0.0197	0.0067	0	0	0.0019	0.0068	0.0085	0.0080	0.0046	1.0	0.05262	T	1.0	0.05995	T	0.73	0.42641	P	0.263	0.39594	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.03	0.20959	T	1.4	0.03352	N	0.083	0.05929	-1.0226	0.22866	T	0.004	0.01295	T	9	0.004086405	0.00080	T	0.003594	0.08216	T	0.014	0.01968	.	.	0.191931220699	0.18833	0.044521644251599775	0.04396	0.466751589387	0.46072	0.2459654212	0.03355	T	0.001824	0.03242	T	-0.625759	0.00102	T	-0.663674	0.08021	T	0.00388578336838126	0.00041	T	0.320668	0.06474	T	0.018096011	0.00331	0.031434305	0.01732	0.018096011	0.00331	0.031434305	0.01732	-3.758	0.20178	T	.	.	0.066	0.09675	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.392076	0.02242	0.229	0.56921182028626138	0.05656	0.00037	0.00318	N	AEFGBCI	0.024370	0.01498	N	-1.58288373110136	0.01352	0.05892081	-1.59270044912762	0.01699	0.07721843	0.999999767281762	0.74766	0.730579	0.87903	0	0.52208	0.09955	0	0.59043	0.30614	0	0.648885	0.59868	0	.	.	2.7	-0.242	0.12396	-1.397000	0.02617	-3.098000	0.03063	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6094:0.0:0.1503:0.2403	2.325	0.03961	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003027	0.005051	0.002717	0.000000	0.000000	0.000000	0.006173	0.011364	0.05	1154.43	37	chr1	159015883	.	G	A	1154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.247;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.589;SOR=0.751	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr1	159205894	159205894	C	T	exonic	ACKR1	.	nonsynonymous SNV	ACKR1:NM_001122951:exon2:c.C461T:p.S154F,ACKR1:NM_002036:exon2:c.C455T:p.S152F	.	425	1081	15	0	1	16	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	.	0.0006	0.00259585	0.0021	0.0002	0.0003	0.0001	0.0002	0.0006	0.0011	0.0122	0.0018499	286	154602	rs147620003	0.0012	0.0012	0.0008	0.0015	0.0129	0.0011	0.0011	0.0123	0.0120	5.974e-05	0.0004	0.0002	2.519e-05	1.876e-05	0.0036	0.0004	0.0016	0.0129	0.0007	0.0007	0.0007	0.0008	0.0108	0.0006	0.0006	0.0084	0.0076	0.0001	0	0.0003	0	0	9.413e-05	0.0068	0.0006	0.0009	0.0108	0.086	0.33753	T	0.196	0.27943	T	0.887	0.48784	P	0.595	0.50587	P	0.306457	0.14508	N	0.506511	0.988358	0.24419	N	0.345	0.11182	N	1.34	0.34841	T	-0.81	0.22294	N	0.189	0.20660	-1.0754	0.08266	T	0.023	0.09696	T	10	0.008168638	0.00185	T	.	.	.	0.127	0.34888	.	.	0.349204839081	0.34528	0.39414579003088923	0.39329	0.0841297862296	0.09485	0.289785712957	0.08891	T	0.135551	0.46743	T	-0.497793	0.00588	T	-0.477434	0.24720	T	0.0270945296656597	0.01557	T	0.956904	0.83579	D	0.074649796	0.16766	0.08336655	0.19101	0.049851336	0.08915	0.09092037	0.21347	-0.764	0.00772	T	0.2587923289367664	0.34963	0.125	0.26263	B	.;.;.;.	.;.;.;.	3.444626	0.47939	22.5	0.99267088559129502	0.57423	0.28566	0.23589	N	AEFDBCI	0.047740	0.08073	N	-0.218723826749293	0.32365	1.824523	-0.143904829437812	0.33644	1.926659	0.992795635449124	0.32971	0.600919	0.35232	0	0.596877	0.49441	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.23	2.07	0.26004	0.969000	0.28967	2.470000	0.32893	-0.184000	0.09925	0.916000	0.31843	0.999000	0.35428	0.413000	0.27073	0.0:0.1704:0.5089:0.3206	7.494	0.26648	824	0.40336	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.1	3146.14	104	chr1	159205894	.	C	T	3146.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.93;DP=507;ExcessHet=0.2348;FS=7.778;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=18.08;ReadPosRankSum=1.74;SOR=1.209	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1205	8	0	2	0
chr1	159432840	159432840	T	C	exonic	OR10J4	.	unknown	UNKNOWN	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0084	0.0032	0.0155	0	0.0015	0.0122	0	0	0.0023997	371	154602	rs146980188	0.0048	0.0026	0.0049	0.0047	0.0063	0.0046	0.0045	0.0060	0.0059	0.0015	0.0043	0.0035	0	0.0011	0.0055	0.0063	0.0048	0.0011	0.0039	0.0039	0.0040	0.0038	0.0061	0.0036	0.0035	0.0053	0.0051	0.0009	0.0219	0.0061	0.0063	0	0.0008	0.0068	0.0057	0.0033	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5727.14	224	chr1	159432840	.	T	C	5727.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.4;DP=2449;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.326;SOR=0.712	GT:AD:DP:GQ:PL	0/1:147,115:262:99:2769,0,3529	8	0	2	0
chr1	159886658	159886658	C	T	exonic	CFAP45	.	nonsynonymous SNV	CFAP45:NM_012337:exon6:c.G620A:p.R207Q	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0241635082331	0.0002	0.000599042	0.0004	0	0	0.0001	0	0.0003	0.0011	0.0019	0.0004075	63	154602	rs200351429	0.0003	0.0003	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	2.987e-05	0	0	5.038e-05	1.872e-05	0.0010	0.0002	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	2.409e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0017	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.052679	1	0.81001	D	.	.	.	2.19	0.18724	T	-3.88	0.72710	D	0.323	0.36359	-0.8738	0.50241	T	0.138	0.45489	T	9	0.026590377	0.00822	T	0.024164	0.47155	T	0.320	0.64215	.	.	0.599696831333	0.59650	0.6402988997521847	0.63964	0.1828838047	0.20567	0.47691231966	0.35632	T	0.189154	0.54329	T	-0.0783587	0.39981	T	0.107403	0.77401	D	0.279745781308475	0.24160	T	0.949805	0.85427	D	0.81618726	0.84964	0.7522029	0.85353	0.81618726	0.84965	0.7522029	0.85354	-12.573	0.87529	D	.	.	0.361	0.57274	A	.;.;.	.;.;.	5.622294	0.92614	32	0.99961188127276412	0.99997	0.93761	0.59115	D	AEFBI	0.758771	0.69731	D	0.763826060424656	0.83800	8.113888	0.720456503585334	0.83934	8.153305	0.999999999859316	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.51	5.51	0.81769	4.458000	0.59832	4.026000	0.41295	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.910	0.86007	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1372.43	33	chr1	159886658	.	C	T	1372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.207;DP=414;ExcessHet=0;FS=1.601;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.187;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1326	9	0	1	0
chr1	159953411	159953411	T	A	exonic	SLAMF9	.	nonsynonymous SNV	SLAMF9:NM_001146172:exon2:c.A289T:p.I97F,SLAMF9:NM_033438:exon2:c.A289T:p.I97F	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	.	0.0038	0.00279553	0.0009	0.0089	0.0006	0	0	2.997e-05	0.0022	0.0002	0.0008797	136	154602	rs146654789	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0074	0.0071	0.0082	0.0003	3.826e-05	0	1.872e-05	0.0040	4.047e-05	0.0009	0.0001	0.0025	0.0025	0.0027	0.0023	0.0085	0.0023	0.0022	0.0078	0.0075	0.0085	0	0.0007	0	0	0	0.0034	0.0001	0.0024	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.999	0.90584	D	0.982	0.92359	D	0.000025	0.55875	D	0.112855	0.952436	0.37784	D	3.155	0.88459	M	-0.91	0.75001	T	-3.76	0.71276	D	0.734	0.75283	0.169	0.85384	D	0.524	0.82278	D	9	0.026150197	0.00788	T	.	.	.	0.613	0.84879	.	.	0.83683909362	0.83528	0.8385039390529269	0.83810	0.21056478515	0.23543	0.455484211445	0.32692	T	0.140293	0.47475	T	-0.231153	0.16498	T	-0.0994031	0.63443	T	0.0475699008164178	0.05067	T	0.772023	0.40277	T	0.57151437	0.71144	0.5996546	0.76744	0.57151437	0.71145	0.5996546	0.76745	-5.99	0.55532	T	.	.	0.145	0.31980	B	.;.	.;.	4.211604	0.63633	24.6	0.98863042312611671	0.47511	0.85636	0.44790	D	AEFBI	0.358999	0.44948	N	0.652012824641584	0.76500	6.497806	0.592511011881285	0.74401	6.130894	0.970063604210284	0.29178	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.28	5.28	0.74118	2.459000	0.44680	3.328000	0.37603	0.660000	0.55035	0.988000	0.36536	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	11.597	0.50233	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011089	0.010101	0.023098	0.008824	0.000000	0.008621	0.003049	0.000000	0.05	1277.43	34	chr1	159953411	.	T	A	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=559;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.11;SOR=0.968	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr1	160030794	160030794	A	C	exonic	PIGM	.	nonsynonymous SNV	PIGM:NM_145167:exon1:c.T946G:p.C316G	Glycosylphosphatidylinositol deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.129098063147	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294304086	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.021	0.58089	D	0.993	0.65571	D	0.96	0.70309	D	0.000006	0.62929	D	0.111289	1	0.81001	D	3.275	0.90144	M	0.85	0.47130	T	-9.57	0.98503	D	0.69	0.69562	-0.6455	0.62909	T	0.222	0.58523	T	9	0.854362	0.84626	D	0.129098	0.81111	D	0.315	0.63694	0.631	0.76699	0.72636849053	0.72394	0.5631388709949597	0.56240	1.13854889537	0.78850	0.513442397118	0.40704	T	0.160194	0.50394	T	0.152325	0.69484	D	-0.0189724	0.69096	D	0.999645709991455	0.98300	D	0.872913	0.58047	D	0.9617691	0.97458	0.91357887	0.95943	0.9617691	0.97458	0.91357887	0.95943	-7.754	0.59382	D	0.3969254396452313	0.48933	0.294	0.52483	B	.	.	4.794476	0.77846	26.8	0.98289391390874425	0.39935	0.86077	0.45292	D	AEFDGBCI	0.799680	0.72587	D	0.59223024528763	0.72687	5.845406	0.556832234500006	0.71874	5.721801	0.999999999891159	0.74766	0.660085	0.49399	0	0.672317	0.65289	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	5.35	5.35	0.76297	4.771000	0.62011	10.956000	0.84431	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	13.278	0.59631	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3919.14	148	chr1	160030794	.	A	C	3919.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.61;DP=587;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.582;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1131	8	0	2	0
chr1	160042232	160042232	G	T	exonic	KCNJ10	.	nonsynonymous SNV	KCNJ10:NM_002241:exon2:c.C301A:p.P101T	Enlarged vestibular aqueduct, digenic, Autosomal recessive;SESAME syndrome, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	201057	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_4|EAST_syndrome|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MONDO:MONDO:0013005,MedGen:C2748572,OMIM:612780,Orphanet:199343|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.407	0.0247021238291	7.7e-05	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0015	0.0002781	43	154602	rs375361490	0.0002	0.0002	0.0001	0.0002	0.0015	0.0002	0.0001	0.0013	0.0012	0	0	0	0	9.361e-05	0.0007	8.635e-05	0.0002	0.0015	0.0001	0.0001	0.0001	0.0001	0.0008	8.167e-05	6.723e-05	0.0003	0.0002	0	0	6.539e-05	0	0	0	0	0.0002	0	0.0008	0.07	0.35349	T	0.107	0.37730	T	0.011	0.15914	B	0.032	0.22131	B	0.193940	0.16773	N	0.627142	0.999998	0.58761	D	2.285	0.65182	M	-3.24	0.93474	D	-2.36	0.52128	N	0.27	0.30574	-0.0670	0.80845	T	0.604	0.85919	D	10	0.042671204	0.03039	T	0.024702	0.47687	T	0.407	0.71946	.	.	0.796593503951	0.79470	0.958943726402816	0.95880	0.634449359159	0.57297	0.666297495365	0.62310	T	0.835664	0.96119	D	-0.134568	0.30759	T	0.00384705	0.70584	D	0.11655626100225	0.14089	T	0.846915	0.56980	T	0.10201665	0.24101	0.13530459	0.32400	0.103863634	0.24550	0.13515536	0.32368	-6.117	0.47248	T	.	.	0.136	0.31151	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.450134	0.69175	25.3	0.97530802836888986	0.34459	0.98761	0.86513	D	AEFBI	0.649901	0.62420	D	0.0701682341033742	0.45074	2.770196	0.22081889332043	0.51004	3.286786	0.999998441179411	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	7.782000	0.84306	7.508000	0.59580	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.633000	0.32236	0.0:0.1739:0.8261:0.0	11.994	0.52479	797	0.45241	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2608.43	35	chr1	160042232	.	G	T	2608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.108;DP=504;ExcessHet=0;FS=8.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.245;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1209	9	0	1	0
chr1	160130114	160130114	G	A	exonic	ATP1A2	.	nonsynonymous SNV	ATP1A2:NM_000702:exon12:c.G1474A:p.E492K	Alternating hemiplegia of childhood, Autosomal dominant;Migraine, familial basilar, Autosomal dominant;Migraine, familial hemiplegic, 2, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	201085	Inborn_genetic_diseases|not_provided|ATP1A2-related_disorder|Familial_hemiplegic_migraine|Migraine,_familial_hemiplegic,_2|Alternating_hemiplegia_of_childhood_1|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0000700,MedGen:C0338484,OMIM:PS141500|MONDO:MONDO:0011232,MedGen:C1865322,OMIM:602481,Orphanet:569|MONDO:MONDO:0007087,MedGen:C3549447,OMIM:104290,Orphanet:2131|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.519	0.0640059234259	0.0006	0.000399361	0.0004	0.0002	0.0003	0.0006	0	0.0006	0	0	0.0004334	67	154602	rs142348542	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0002	0.0003	3.826e-05	0.0001	5.617e-05	0.0003	0.0009	0.0005	1.159e-05	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0007	0.0006	0.0003	0	0.0004	0	0	0	0	0.0008	0	0	0.328	0.13349	T	0.498	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000058	0.53742	D	0.162892	0.999959	0.52396	D	-0.23	0.03940	N	-3.92	0.96078	D	-1.85	0.43334	N	0.729	0.78737	-0.3605	0.73248	T	0.431	0.77310	T	10	0.106758386	0.19798	T	0.064006	0.69143	D	0.519	0.79522	.	.	0.979021304379	0.97879	0.7538960804138075	0.75336	0.85012815804	0.68487	0.718519389629	0.69831	T	0.68582	0.90819	D	-0.0346796	0.46733	T	0.126968	0.78693	D	0.0237014412251835	0.01108	T	0.913309	0.69109	D	0.14419505	0.33108	0.16760999	0.38659	0.15800595	0.35570	0.16268353	0.37776	-12.805	0.88543	D	0.2354241078118426	0.31877	0.291	0.52849	B	.;.	.;.	3.504872	0.49049	22.7	0.99611251427386815	0.74813	0.69331	0.34146	D	AEFDBI	0.314508	0.41935	N	-0.433391562358734	0.24307	1.311514	-0.217131797702824	0.30922	1.745264	0.999999539512934	0.74766	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.61	3.68	0.41359	1.426000	0.34478	6.732000	0.56460	0.654000	0.53741	0.905000	0.31549	1.000000	0.68203	0.989000	0.64315	0.0921:0.0:0.9079:0.0	11.355	0.48848	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1432.43	33	chr1	160130114	.	G	A	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.14;DP=431;ExcessHet=0;FS=10.37;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.573;SOR=0.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	9	0	1	0
chr1	160164165	160164165	G	A	exonic	ATP1A4	.	nonsynonymous SNV	ATP1A4:NM_144699:exon7:c.G788A:p.R263Q	.	426	1079	17	0	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	.	0.0005	0.0245607	0.0140	0.0015	0.0321	0.1146	0.0060	0.0017	0.0132	0.0090	0.0127812	1976	154602	rs76528638	0.0054	0.0054	0.0053	0.0055	0.1101	0.0053	0.0053	0.1073	0.1062	0.0010	0.0259	0.0042	0.1101	0.0080	0.0010	0.0005	0.0081	0.0087	0.0069	0.0069	0.0060	0.0079	0.1053	0.0066	0.0064	0.0980	0.0951	0.0013	0	0.0145	0.0026	0.1053	0.0086	0.0136	0.0009	0.0095	0.0108	0.129	0.26852	T	0.177	0.29740	T	0.665	0.41045	P	0.107	0.31211	B	0.000209	0.47681	N	0.183165	0.944658	0.26685	N	1.585	0.39878	L	-2.67	0.90332	D	-1.88	0.43906	N	0.046	0.01825	-0.4276	0.71144	T	0.411	0.75957	T	10	0.004645914	0.00097	T	.	.	.	0.368	0.68757	.	.	.	.	0.5678108596890505	0.56709	0.204912502532	0.22910	0.205313280225	0.00628	T	0.372635	0.73678	T	-0.440146	0.01291	T	-0.318163	0.42777	T	0.0186585112707288	0.00580	T	0.766723	0.39447	T	0.085755065	0.19906	0.15748742	0.36822	0.085755065	0.19906	0.15748742	0.36822	-7.512	0.57695	D	.	.	0.074	0.05188	B	.	.	0.114156	0.05128	1.656	0.98227405609794838	0.39360	0.32408	0.24578	N	AEFBCI	0.167626	0.29432	N	-0.706905521141849	0.15828	0.8010989	-0.799665722639131	0.14504	0.7581383	0.999742411703936	0.42466	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.54	0.61	0.16757	-0.170000	0.09886	-4.345000	0.02205	-2.519000	0.00257	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3567:0.1557:0.4877:0.0	4.496	0.11248	579	0.69780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.000000	0.005848	0.000000	0.000000	0.018293	0.018939	0.05	1945.43	33	chr1	160164165	.	G	A	1945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.17;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=1.34;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	9	0	1	0
chr1	160240106	160240111	TCCTCT	-	exonic	DCAF8	.	nonframeshift deletion	DCAF8:NM_015726:exon4:c.309_314del:p.E111_E112del	.	392	1122	8	0	0	8	0.0035524	.	.	.	1274264	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0145	.	0.0011	0.0003	0.0004	0	0	0.0017	0.0022	0.0009	0.0001921	5	26028	rs745776382	0.0008	0.0008	0.0008	0.0008	0.0021	0.0008	0.0007	0.0012	0.0009	0.0002	0.0007	0.0187	2.519e-05	5.69e-05	0.0021	0.0004	0.0020	0.0011	0.0011	0.0011	0.0011	0.0011	0.0020	0.0010	0.0009	0.0015	0.0013	0.0002	0	0.0020	0.0204	0.0002	0	0	0.0007	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1734.39	34	chr1	160240105	.	CTCCTCT	C	1734.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.578;DP=415;ExcessHet=0;FS=3.882;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=0.637;SOR=0.815	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1746,0,1859	9	0	1	0
chr1	160750053	160750053	A	C	exonic	SLAMF7	.	nonsynonymous SNV	SLAMF7:NM_001282590:exon2:c.A288C:p.R96S,SLAMF7:NM_001282591:exon2:c.A288C:p.R96S,SLAMF7:NM_001282593:exon2:c.A288C:p.R96S,SLAMF7:NM_001282594:exon2:c.A288C:p.R96S,SLAMF7:NM_001282595:exon2:c.A207C:p.R69S,SLAMF7:NM_001282596:exon2:c.A288C:p.R96S,SLAMF7:NM_001282592:exon3:c.A609C:p.R203S,SLAMF7:NM_021181:exon3:c.A609C:p.R203S	.	423	1030	67	2	0	71	0.0333177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0036	0.023762	0.0155	0.0039	0.0080	0.0487	0.0168	0.0050	0.0165	0.0527	0.0139325	2154	154602	rs117009784	0.0082	0.0082	0.0068	0.0096	0.0536	0.0081	0.0080	0.0517	0.0511	0.0036	0.0084	0.0132	0.0536	0.0172	0.0290	0.0025	0.0097	0.0529	0.0085	0.0085	0.0070	0.0101	0.0531	0.0081	0.0080	0.0478	0.0457	0.0043	0.0033	0.0095	0.0144	0.0440	0.0163	0.0204	0.0035	0.0076	0.0531	0.823	0.04742	T	0.817	0.03863	T	0.0	0.02946	B	0.0	0.01387	B	0.167060	0.17487	N	0.602456	1	0.19486	N	-2.74	0.00028	N	2.19	0.18724	T	1.94	0.00756	N	0.21	0.23380	-0.9467	0.41532	T	0.003	0.00929	T	10	0.0028574467	0.00046	T	.	.	.	0.031	0.07369	0.566	0.68768	.	.	0.324813258575712	0.32394	0.178383138958	0.20072	0.290989935398	0.09067	T	0.002644	0.43587	T	-0.722179	0.00027	T	-0.768401	0.02821	T	0.00331738300803551	0.00035	T	0.0486951	0.00347	T	0.07594362	0.17144	0.04246686	0.05065	0.07594362	0.17144	0.04246686	0.05065	-0.005	0.00951	T	.	.	0.061	0.11845	B	.;.;.;.;.;.	.;.;.;.;.;.	0.793615	0.11639	8.226	0.29561523863360645	0.01574	0.00351	0.01809	N	AEFDGBHCI	0.043334	0.06838	N	-1.47543214926929	0.02024	0.08897147	-1.36352818858422	0.03648	0.1706476	0.999999749278389	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	1.17	0.19998	-0.015000	0.12572	0.912000	0.22635	-0.175000	0.10903	0.169000	0.23921	0.753000	0.26565	0.220000	0.22462	0.314:0.4287:0.0:0.2573	3.261	0.06445	799	0.44747	Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;.	.	.	.	.	rs117009784	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020645	0.000000	0.014946	0.026316	0.050000	0.017241	0.024390	0.037879	0.05	853.43	35	chr1	160750053	.	A	C	853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.144;DP=375;ExcessHet=0;FS=1.032;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.684;SOR=0.484	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	160816759	160816759	A	G	exonic	LY9	.	nonsynonymous SNV	LY9:NM_001261456:exon5:c.A1238G:p.N413S,LY9:NM_002348:exon5:c.A1238G:p.N413S	.	428	1064	30	0	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0015	0.0111821	0.0063	0.0010	0.0057	0.0040	0	0.0013	0.0066	0.0340	0.0057697	892	154602	rs141800928	0.0030	0.0030	0.0021	0.0040	0.0351	0.0030	0.0029	0.0341	0.0337	0.0006	0.0061	0.0060	0.0020	0.0001	0.0108	0.0005	0.0039	0.0351	0.0026	0.0026	0.0019	0.0034	0.0390	0.0024	0.0023	0.0344	0.0327	0.0005	0	0.0046	0.0078	0.0035	0.0004	0.0102	0.0009	0.0024	0.0390	0.819	0.02966	T	0.308	0.19845	T	0.319	0.34076	B	0.121	0.36391	B	.	.	.	.	1	0.08975	N	0.185	0.09099	N	4.06	0.03063	T	-1.11	0.28703	N	0.078	0.05287	-0.9354	0.43333	T	0.001	0.00467	T	9	0.0031006932	0.00051	T	.	.	.	0.016	0.02506	.	.	0.207176502487	0.20327	0.11403453494514294	0.11331	0.168082627083	0.18954	0.24695122242	0.03454	T	0.054844	0.29839	T	-0.750318	0.00018	T	-0.824097	0.01371	T	0.00163960961764602	0.00017	T	0.69603	0.30552	T	0.021601463	0.00771	0.02695488	0.00816	0.021601463	0.00771	0.02695488	0.00816	-4.237	0.27584	T	.	.	0.098	0.16451	B	.;.	.;.	-0.427439	0.02111	0.200	0.29551277888573702	0.01573	0.00914	0.03565	N	AEFBI	0.042420	0.06579	N	-1.50498780926529	0.01817	0.07963921	-1.57513754956223	0.01808	0.08234504	0.904061424140657	0.26169	0.693126	0.56070	0	0.659464	0.62310	0	0.54472	0.12158	0	0.564101	0.26826	0	.	.	4.75	-5.74	0.02197	-1.090000	0.03483	-6.649000	0.01342	-0.166000	0.11466	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.351:0.2562:0.267:0.1258	1.303	0.01957	789	0.46346	.;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	42	chr1	160816759	.	A	G	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.082;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=0.957;SOR=0.7	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1285	9	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:145,36:189:99:136,0,2978	0	0	9	1
chr1	161193717	161193717	C	T	exonic	ADAMTS4	.	nonsynonymous SNV	ADAMTS4:NM_001320336:exon6:c.G1658A:p.R553Q,ADAMTS4:NM_005099:exon6:c.G1658A:p.R553Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00672680540291	.	.	2.479e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs751930428	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0001	1.048e-05	8.75e-06	6.246e-05	4.757e-05	0	0	3.828e-05	2.519e-05	0	0	8.993e-06	1.656e-05	0.0001	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.35	0.12305	T	0.616	0.07543	T	0.139	0.27501	B	0.073	0.28123	B	0.046893	0.23395	N	0.276962	0.95317	0.26414	N	-0.28	0.03718	N	3.9	0.03516	T	0.46	0.03140	N	0.391	0.43223	-0.9251	0.44844	T	0.002	0.00497	T	10	0.0806959	0.13127	T	0.006727	0.17784	T	0.027	0.05988	0.463	0.53242	0.266385636622	0.26244	0.42080655406495737	0.41996	0.771076726515	0.64765	0.347193539143	0.17508	T	0.051515	0.28901	T	-0.366079	0.03798	T	-0.526955	0.19591	T	0.166736994404118	0.18355	T	0.931607	0.74555	D	0.058624398	0.11818	0.0368595	0.03218	0.058624398	0.11817	0.0368595	0.03217	-5.329	0.40229	T	.	.	0.070	0.03443	B	.	.	3.750414	0.53753	23.4	0.98336549899088677	0.40398	0.17314	0.19783	N	AEFDBI	0.113204	0.22346	N	-0.992204786890353	0.08769	0.4124543	-0.851324716682976	0.13255	0.6866512	0.999695302615052	0.41870	0.722319	0.85440	0	0.547309	0.14657	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.96	1.98	0.25351	0.176000	0.16596	3.966000	0.40787	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.976000	0.56436	0.1402:0.7033:0.0:0.1565	7.004	0.24002	428	0.80967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1643.43	56	chr1	161193717	.	C	T	1643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.577;DP=706;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.234;SOR=0.68	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1655,0,1756	9	0	1	0
chr1	161228740	161228740	C	T	exonic	TOMM40L	.	nonsynonymous SNV	TOMM40L:NM_001286374:exon7:c.C515T:p.A172V,TOMM40L:NM_001286373:exon8:c.C608T:p.A203V,TOMM40L:NM_032174:exon9:c.C710T:p.A237V	.	432	1058	31	1	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	.	0.0016	0.00219649	0.0033	0.0003	0.0012	0.0001	0.0002	0.0022	0.0055	0.0139	0.0029948	463	154602	rs145255926	0.0025	0.0025	0.0020	0.0029	0.0143	0.0024	0.0024	0.0136	0.0134	0.0004	0.0011	0.0003	2.519e-05	0.0001	0.0059	0.0019	0.0021	0.0143	0.0016	0.0016	0.0013	0.0020	0.0150	0.0015	0.0014	0.0122	0.0112	0.0003	0	0.0020	0	0.0002	0	0.0136	0.0019	0.0009	0.0150	0.195	0.21144	T	0.167	0.30729	T	0.536	0.37827	P	0.348	0.42747	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.92	0.51302	L	0.98	0.42122	T	-1.4	0.34596	N	0.799	0.81162	-1.0738	0.08598	T	0.054	0.22846	T	9	0.013122827	0.00279	T	.	.	.	0.298	0.61843	.	.	0.255117706274	0.25116	0.5664337149296164	0.56571	1.32499314031	0.83536	0.610180258751	0.54341	T	0.046743	0.27515	T	-0.177935	0.24042	T	-0.017336	0.69205	D	0.0415316929974051	0.03969	T	0.893711	0.63332	D	0.28046897	0.51094	0.30697423	0.56720	0.28046897	0.51094	0.30697423	0.56719	-9.201	0.68981	D	.	.	0.391	0.59051	A	.;.;.	.;.;.	4.981590	0.82523	27.8	0.98918564707376344	0.48509	0.98218	0.80639	D	AEFBI	0.896907	0.83850	D	-0.00998232733866537	0.41403	2.475816	0.127036350981368	0.45937	2.848119	0.999999999469914	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.71	0.59010	7.568000	0.81546	7.661000	0.64234	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9202:0.0:0.0798	12.828	0.57112	715	0.56137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.009511	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1380.43	35	chr1	161228740	.	C	T	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.368;DP=432;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.639;SOR=0.822	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1194	9	0	1	0
chr1	161526528	161526528	T	C	exonic	HSPA6	.	nonsynonymous SNV	HSPA6:NM_002155:exon1:c.T1870C:p.C624R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00385198014394	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1456907374	4.147e-06	4.104e-06	2.742e-06	5.575e-06	7.083e-05	1.49e-06	9.8e-07	3.04e-05	2.068e-05	0	0	0	0	0	0	0	0	7.083e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.239	0.24477	T	0.001	0.07471	B	0.002	0.06944	B	0.226567	0.16015	U	0.314266	1.000	0.50806	D	1.32	0.33002	L	5.53	0.00894	T	-1.15	0.29525	N	0.297	0.33578	-0.8728	0.50318	T	0.001	0.00287	T	10	0.11682245	0.22046	T	0.003852	0.09024	T	0.042	0.11227	0.303	0.27164	0.259272394797	0.25527	0.13102881773493308	0.13027	.	.	0.593473792076	0.51984	T	0.00116	0.00668	T	-0.319903	0.06905	T	-0.594352	0.13291	T	0.0361654089356636	0.03009	T	0.716128	0.32863	T	0.65912914	0.75852	0.5187475	0.72194	0.65912914	0.75853	0.5187475	0.72195	-4.32	0.28457	T	.	.	0.142	0.31203	B	.	.	1.497561	0.19258	14.17	0.95212442476415737	0.26421	0.36432	0.25531	N	AEFDBI	0.336622	0.43468	N	-0.622900798164291	0.18257	0.9464404	-0.4902674595574	0.22420	1.217677	0.999975937744443	0.50053	0.59774	0.34471	0	0.61073	0.52368	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.59	3.59	0.40253	0.849000	0.27375	0.229000	0.16167	0.607000	0.46521	0.690000	0.28531	0.000000	0.08366	0.368000	0.26066	0.0:0.0:0.0:1.0	10.171	0.42082	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	573.43	39	chr1	161526528	.	T	C	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.623;DP=383;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.19;MQRankSum=0.518;QD=9.89;ReadPosRankSum=1.44;SOR=0.537	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1207	9	0	1	0
chr1	161548502	161548502	T	C	exonic	FCGR3A	.	nonsynonymous SNV	FCGR3A:NM_000569:exon3:c.A238G:p.T80A,FCGR3A:NM_001127592:exon3:c.A550G:p.T184A,FCGR3A:NM_001329122:exon3:c.A553G:p.T185A,FCGR3A:NM_001127593:exon4:c.A238G:p.T80A,FCGR3A:NM_001127595:exon4:c.A238G:p.T80A,FCGR3A:NM_001127596:exon4:c.A235G:p.T79A,FCGR3A:NM_001329120:exon4:c.A238G:p.T80A	Immunodeficiency 20, Autosomal recessive	409	1112	1	0	0	1	0.000449438	.	.	.	2343126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00313033314678	0.0002	0.000199681	0.0001	0	8.637e-05	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs142322800	8.278e-05	8.551e-05	5.718e-05	0.0001	0.0004	7.07e-05	6.619e-05	0.0003	0.0003	0	0.0002	0.0010	0	0	0.0003	3.238e-05	0.0002	0.0004	5.906e-05	5.904e-05	6.422e-05	5.367e-05	0.0001	3.074e-05	2.208e-05	2.257e-05	1.124e-05	0	0	0.0001	0.0009	0	0	0	5.879e-05	0	0	0.173	0.22573	T	0.449	0.12993	T	0.0	0.02946	B	0.001	0.04355	B	0.886414	0.07268	N	1.069840	1	0.08975	N	1.29	0.32370	L	2.48	0.14657	T	-1.24	0.33401	N	0.144	0.14480	-0.9309	0.44006	T	0.012	0.04416	T	10	0.021620095	0.00521	T	0.00313	0.06815	T	0.083	0.24192	.	.	0.28058544554	0.27657	0.2891013719723589	0.28823	0.12711569095	0.14323	0.23382383585	0.02263	T	0.051149	0.28797	T	-0.405493	0.02130	T	-0.524047	0.19885	T	0.0779164806008339	0.09718	T	0.424958	0.11391	T	0.26757896	0.49830	0.122851	0.29629	0.26757896	0.49829	0.122851	0.29629	-5.236	0.39305	T	.	.	0.095	0.14797	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.402749	0.07739	4.421	0.63158849319461019	0.07150	0.01698	0.05402	N	AEFI	0.147893	0.27166	N	-1.09580978508626	0.06720	0.3101596	-1.16392437642027	0.06521	0.3141671	0.967432366572922	0.28977	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.66	0.17038	0.226000	0.17557	-0.099000	0.11964	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1965:0.1819:0.6215	3.942	0.08828	884	0.28482	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000586	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004098	0.05	2980.43	365	chr1	161548502	.	T	C	2980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.123;DP=2373;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.99;MQRankSum=2.62;QD=8.17;ReadPosRankSum=0.934;SOR=0.828	GT:AD:DP:GQ:PL	0/0:235,0:235:99:0,120,1800	9	0	1	0
chr1	161599670	161599670	C	T	exonic	FCGR2C	.	unknown	UNKNOWN	Thrombocytopenic purpura, autoimmune, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002329	36	154602	rs867055986	1.853e-05	3.63e-05	2.185e-05	1.518e-05	0.0004	1.269e-05	1.088e-05	6.149e-05	3.965e-05	0	0.0001	0	0	0	0.0004	1.623e-05	0	1.167e-05	3.534e-05	5.299e-05	4.114e-05	2.918e-05	7.265e-05	1.334e-05	8.51e-06	1.215e-05	6.37e-06	2.708e-05	0	7.265e-05	0	0	0	0	4.577e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.079868704	0.12898	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	.	.	.	.	.	.	.	.	.	.	-0.0334465	0.46913	T	-0.28582	0.46205	T	.	.	.	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08368	B	.	.	-0.138058	0.03420	0.623	0.79083217762414237	0.12583	0.00016	0.00195	N	AEFI	0.028309	0.02470	N	.	.	.	.	.	.	2.43240643371598E-4	0.06141	0.262962	0.04601	0	0.304816	0.05638	0	0.083675	0.02720	0	0.058706	0.01089	0	.	.	0.41	-0.82	0.10280	-2.061000	0.01478	-1.350000	0.05649	-2.483000	0.00269	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	.	.	.	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	365.43	37	chr1	161599670	.	C	T	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.81;DP=382;ExcessHet=0;FS=2.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.34;MQRankSum=-0.636;QD=5.89;ReadPosRankSum=2.3;SOR=1.262	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	0	1	0
chr1	161711334	161711334	G	C	exonic	FCRLA	.	nonsynonymous SNV	FCRLA:NM_001366196:exon3:c.G359C:p.G120A,FCRLA:NM_032738:exon3:c.G359C:p.G120A,FCRLA:NM_001184866:exon4:c.G377C:p.G126A,FCRLA:NM_001366195:exon4:c.G374C:p.G125A	.	170	1343	9	0	0	9	0.00333952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0059194228648	7.7e-05	0.000998403	0.0012	0	0.0003	0	0	0.0005	0	0.0067	0.0010479	162	154602	rs112766190	0.0008	0.0008	0.0006	0.0010	0.0068	0.0007	0.0007	0.0064	0.0062	0	0.0001	0.0058	0	0	0.0023	0.0003	0.0009	0.0068	0.0005	0.0005	0.0004	0.0007	0.0066	0.0004	0.0004	0.0048	0.0042	0	0	6.536e-05	0.0078	0	0	0	0.0002	0.0014	0.0066	0.412	0.11623	T	0.178	0.48336	T	0.013	0.16609	B	0.012	0.16012	B	0.000240	0.47286	D	0.000000	0.848719	0.58761	D	1.555	0.39373	L	2.73	0.11839	T	-1.79	0.42191	N	0.15	0.21188	-0.9672	0.37774	T	0.010	0.03856	T	10	0.0053498447	0.00117	T	0.005919	0.15430	T	0.041	0.10877	.	.	0.29132392195	0.28731	0.36251428848108325	0.36165	0.102056697399	0.11557	0.446816027164	0.31510	T	.	.	.	-0.5993	0.00147	T	-0.631434	0.10306	T	0.0336092901141238	0.02573	T	0.735226	0.36203	T	.	.	.	.	.	.	.	.	-5.862	0.45247	T	.	.	0.132	0.37426	B	.;.;.;.	.;.;.;.	2.589881	0.33598	19.39	0.9062556406636435	0.19878	0.35857	0.25399	N	AEFBI	0.140282	0.26214	N	-0.481238275204291	0.22696	1.213716	-0.403886986017946	0.24883	1.365132	0.999908617294365	0.45458	0.542737	0.22433	0	0.685571	0.66316	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.99	3.05	0.34272	0.624000	0.24156	4.965000	0.46365	0.676000	0.76740	0.102000	0.22834	1.000000	0.68203	0.782000	0.36987	0.0:0.3534:0.6466:0.0	11.394	0.49071	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1917.43	36	chr1	161711334	.	G	C	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.524;SOR=0.738	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1229	9	0	1	0
chr1	161998008	161998008	C	T	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon6:c.G1294A:p.A432T,OLFML2B:NM_001347700:exon6:c.G1297A:p.A433T,OLFML2B:NM_015441:exon6:c.G1291A:p.A431T	.	427	1094	0	1	0	2	0.000913242	.	.	.	2279659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.00847766563686	.	0.000199681	2.472e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs544736438	3.899e-05	3.899e-05	2.859e-05	4.95e-05	0.0003	3.047e-05	2.783e-05	0.0002	0.0002	0	0	0	0	0	0	2.608e-05	4.967e-05	0.0003	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.32	0.13566	T	0.89	0.03161	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.3	0.32576	L	-2.13	0.86349	D	1.09	0.01246	N	0.055	0.04790	-1.0542	0.13251	T	0.194	0.54782	T	8	0.039618194	0.02466	T	0.008478	0.22432	T	0.174	0.44019	0.145	0.04843	0.596874347621	0.59366	0.27800380482665393	0.27713	0.112297943068	0.12674	0.301220417023	0.10583	T	0.001252	0.02381	T	-0.248296	0.14309	T	-0.412909	0.31889	T	0.0259968350651433	0.01405	T	0.393561	0.11519	T	0.04148338	0.06116	0.068651736	0.14364	0.04148338	0.06115	0.068651736	0.14364	-2.844	0.08595	T	.	.	0.066	0.02458	B	.;.	.;.	-0.141026	0.03405	0.616	0.29897056132319599	0.01608	0.02975	0.07821	N	AEFGBI	0.099199	0.19973	N	-1.10442856244102	0.06564	0.3025187	-1.09828009114263	0.07734	0.3773869	0.998166327169836	0.36515	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	4.65	1.7	0.23359	-0.583000	0.05900	-0.996000	0.06663	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.7196:0.0:0.2804	8.100	0.30011	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1898.43	42	chr1	161998008	.	C	T	1898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.186;DP=512;ExcessHet=0;FS=2.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.743;SOR=0.908	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr1	162020049	162020049	T	C	exonic	OLFML2B	.	nonsynonymous SNV	OLFML2B:NM_001297713:exon2:c.A308G:p.Y103C,OLFML2B:NM_001347700:exon2:c.A308G:p.Y103C,OLFML2B:NM_015441:exon2:c.A308G:p.Y103C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0285225835061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.687	0.41560	P	0.132	0.33005	B	.	.	.	.	0.999905	0.50806	D	2.405	0.69568	M	0.8	0.48769	T	-7.15	0.94096	D	0.973	0.99410	-1.0174	0.24560	T	0.050	0.21456	T	8	0.7827445	0.77990	D	0.028523	0.51190	D	0.401	0.71479	0.577	0.70217	0.638482112605	0.63550	0.6137621301124242	0.61308	0.340805444032	0.36020	0.814751267433	0.84221	D	0.118333	0.57320	T	0.169347	0.71064	D	0.00547873	0.70691	D	0.985923409461975	0.76779	D	0.855114	0.55187	D	0.6218771	0.73863	0.4773016	0.69718	0.6218771	0.73865	0.4773016	0.69718	-10.914	0.79184	D	.	.	0.925	0.84615	P	.;.	.;.	4.154990	0.62356	24.4	0.9926962855831305	0.57491	0.97862	0.77688	D	AEFGBI	0.947392	0.95790	D	0.194695244671116	0.50944	3.279771	0.296950081840937	0.55361	3.699216	0.999999999751977	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.5	4.5	0.54382	7.471000	0.79986	7.681000	0.65292	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:0.0:1.0	12.092	0.53033	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1936.43	34	chr1	162020049	.	T	C	1936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.08;DP=512;ExcessHet=0;FS=5.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.077;SOR=0.431	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1347	9	0	1	0
chr1	162587629	162587629	A	G	exonic	UAP1	.	nonsynonymous SNV	UAP1:NM_001324114:exon6:c.A989G:p.N330S,UAP1:NM_001324116:exon6:c.A989G:p.N330S,UAP1:NM_001324117:exon6:c.A989G:p.N330S,UAP1:NM_003115:exon6:c.A989G:p.N330S,UAP1:NM_001324113:exon7:c.A989G:p.N330S,UAP1:NM_001324115:exon7:c.A989G:p.N330S	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.0317888265038	0.0024	0.000599042	0.0025	0.0009	0.0003	0	0.0033	0.0031	0.0033	0.0036	0.0022445	347	154602	rs34942806	0.0025	0.0025	0.0024	0.0026	0.0035	0.0025	0.0024	0.0032	0.0031	0.0004	0.0003	0.0052	0	0.0030	0.0033	0.0025	0.0038	0.0035	0.0021	0.0021	0.0021	0.0020	0.0030	0.0019	0.0018	0.0027	0.0025	0.0002	0	0.0012	0.0058	0.0002	0.0039	0.0034	0.0030	0.0014	0.0029	0.002	0.72154	D	0.019	0.59159	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.084401	1	0.81001	D	3.14	0.88230	M	2.11	0.19860	T	-4.95	0.81910	D	0.914	0.91621	-0.8782	0.49903	T	0.114	0.40467	T	9	0.069359064	0.09939	T	0.031789	0.53784	D	0.406	0.71869	.	.	0.477508674505	0.47379	0.7411167807684088	0.74057	0.313632677135	0.33653	0.558523952961	0.47059	T	0.34716	0.71532	T	-0.394467	0.02517	T	-0.340239	0.40318	T	0.0390075534732362	0.03511	T	0.986901	0.95512	D	0.9488033	0.96144	0.8698939	0.92858	0.9488033	0.96144	0.8698939	0.92859	-10.181	0.75289	D	.	.	0.150	0.40424	B	.;.;.;.	.;.;.;.	4.513597	0.70700	25.6	0.99895444142745082	0.96819	0.98309	0.81491	D	AEFBCI	0.945148	0.95310	D	0.851108488054354	0.89171	9.863185	0.80697438195747	0.90274	10.33335	0.999960104129659	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	8.818000	0.91619	11.175000	0.88104	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.082	0.64454	810	0.42761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.05	788.43	33	chr1	162587629	.	A	G	788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=396;ExcessHet=0;FS=1.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-1.035;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1170	9	0	1	0
chr1	162778639	162778639	C	A	exonic	DDR2	.	nonsynonymous SNV	DDR2:NM_001354982:exon17:c.C2343A:p.F781L,DDR2:NM_001354983:exon17:c.C2343A:p.F781L,DDR2:NM_006182:exon17:c.C2343A:p.F781L,DDR2:NM_001014796:exon18:c.C2343A:p.F781L	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00517659512733	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs769024047	1.3e-05	1.3e-05	6.807e-06	1.925e-05	0.0003	8.31e-06	6.7e-06	0.0001	9.45e-05	0	0	0	0	0	0.0003	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.009	0.14300	B	0.000011	0.62929	D	0.120319	0.997887	0.44285	D	-0.655	0.02084	N	-1.68	0.82897	D	0.63	0.02404	N	0.342	0.38335	-0.9968	0.30810	T	0.172	0.51468	T	9	0.14069429	0.26741	T	0.005177	0.13187	T	0.256	0.56694	0.607	0.73945	0.487542366653	0.48385	0.7395574314519906	0.73900	0.518063289252	0.49675	0.725780248642	0.70891	T	0.403234	0.76004	T	-0.267064	0.12086	T	-0.347095	0.39537	T	0.0950699578217373	0.11806	T	0.814719	0.46890	T	0.3391664	0.56213	0.08867611	0.20691	0.3391664	0.56213	0.08867611	0.20690	-6.429	0.49736	T	.	.	0.658	0.71233	P	.;.;.	.;.;.	2.602839	0.33792	19.44	0.79159079496955431	0.12616	0.83816	0.42911	D	AEFBI	0.204377	0.33082	N	-0.261978425852402	0.30627	1.709563	-0.0533872456180825	0.37343	2.185279	0.0410492892287824	0.14467	0.719381	0.83141	0	0.670034	0.63936	0	0.602189	0.34648	0	0.733575	0.97253	0	.	.	5.49	4.52	0.54797	1.550000	0.35830	1.393000	0.26132	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1665:0.75:0.0:0.0835	7.532	0.26858	835	0.38313	Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1309.43	34	chr1	162778639	.	C	A	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.177;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=2.47;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	9	0	1	0
chr1	165208098	165208098	T	G	exonic	LMX1A	.	nonsynonymous SNV	LMX1A:NM_001174069:exon7:c.A782C:p.Q261P,LMX1A:NM_177398:exon7:c.A782C:p.Q261P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.14388118988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.176	0.29843	T	0.996	0.68779	D	0.826	0.59373	P	0.000006	0.62929	D	0.111195	0.999995	0.58761	D	2.395	0.69210	M	-2.29	0.87591	D	-1.99	0.45949	N	0.467	0.50508	0.058	0.83401	D	0.569	0.84377	D	9	0.45943677	0.59193	T	0.143881	0.82617	D	0.446	0.74797	0.284	0.24121	0.685241808492	0.68255	0.6011076648944356	0.60041	0.921379448415	0.71472	0.639178872108	0.58447	T	0.476705	0.80724	T	0.102478	0.64560	D	-0.0905738	0.64119	T	0.949863970279694	0.63208	D	0.89931	0.64723	D	0.6614426	0.75976	0.5814753	0.75739	0.6614426	0.75977	0.5814753	0.75740	-11.407	0.81843	D	0.3881923228911176	0.48172	0.255	0.48998	B	.;.;.	.;.;.	4.802121	0.78040	26.8	0.98919414767652414	0.48527	0.85133	0.44241	D	AEFDBCI	0.900562	0.84623	D	0.543945413544943	0.69715	5.396389	0.560596268650952	0.72137	5.762747	0.999904685483252	0.45458	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	4.791000	0.62154	7.574000	0.60786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.062	0.64328	943	0.12886	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	749.43	34	chr1	165208098	.	T	G	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.554;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=0.076;SOR=0.684	GT:AD:DP:GQ:PL	0/1:58,40:98:99:761,0,1351	9	0	1	0
chr1	167054353	167054353	G	A	exonic	GPA33	.	nonsynonymous SNV	GPA33:NM_005814:exon7:c.C941T:p.P314L	.	.	.	.	.	.	.	.	.	.	.	3439879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0812637006091	0.0008	0.000798722	0.0003	0.0025	0.0008	0	0.0002	4.496e-05	0	0.0002	0.000304	47	154602	rs148351388	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	0.0001	0.0018	0.0017	0.0022	0.0006	0	5.038e-05	0.0003	0	2.518e-05	0.0002	0.0002	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0026	0.0025	0.0031	0	0.0010	0	0	0.0005	0	2.942e-05	0.0005	0	0.012	0.54683	D	0.029	0.54541	D	0.027	0.19556	B	0.005	0.11217	B	0.091545	0.20320	N	0.425296	0.999994	0.08975	N	2.705	0.79137	M	-1.03	0.76430	T	-4.25	0.76094	D	0.054	0.02559	-0.8371	0.52839	T	0.181	0.52889	T	10	0.0049874783	0.00107	T	0.081264	0.73643	D	0.090	0.26093	.	.	0.776501030229	0.77444	0.2641312502972822	0.26326	0.161386854959	0.18220	0.299558520317	0.10335	T	0.081287	0.36561	T	-0.417669	0.01771	T	-0.377033	0.36068	T	0.0266550323221775	0.01496	T	0.562144	0.19728	T	0.055769883	0.10883	0.0669134	0.13771	0.055769883	0.10883	0.0669134	0.13771	-4.26	0.27612	T	.	.	0.097	0.15743	B	.	.	1.103958	0.14884	11.41	0.94648739993566933	0.25252	0.03058	0.07960	N	AEFDBI	0.040880	0.06142	N	-0.81619310659703	0.12896	0.6316646	-0.941579466761316	0.11118	0.5645107	0.988216884872804	0.31445	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.87	0.902	0.18422	0.136000	0.15794	2.158000	0.30961	0.604000	0.46097	0.000000	0.06391	0.991000	0.31484	0.035000	0.13729	0.1344:0.0:0.6294:0.2363	3.756	0.08109	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	622.43	37	chr1	167054353	.	G	A	622.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.952;DP=390;ExcessHet=0;FS=0.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=0.254;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	9	0	1	0
chr1	167553591	167553591	G	A	exonic	CREG1	.	nonsynonymous SNV	CREG1:NM_003851:exon1:c.C151T:p.P51S	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.24343906544	.	.	0.0026	0	0	0	.	0	0	0.0034	7.12e-05	11	154602	rs773044756	7.475e-05	7.867e-05	3.861e-05	0.0001	0.0014	6.243e-05	5.798e-05	0.0012	0.0011	0	0	0	0	0	0	9.75e-07	5.706e-05	0.0014	1.314e-05	1.312e-05	0	2.687e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.014	0.53172	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000006	0.62929	D	0.063724	0.999766	0.48888	D	2.47	0.71715	M	.	.	.	-4.55	0.78553	D	0.37	0.41162	-0.5211	0.67873	T	0.281	0.65320	T	8	0.06412181	0.08456	T	0.243439	0.88802	D	0.253	0.56294	0.35	0.34760	0.436780212511	0.43300	0.43318682421574717	0.43235	0.401420650382	0.41125	0.835001349449	0.87329	D	0.196859	0.55337	T	-0.197558	0.21158	T	-0.0919327	0.64016	T	0.255573071699542	0.23121	T	0.594141	0.21965	T	0.526658	0.68640	0.54872555	0.73910	0.526658	0.68642	0.54872555	0.73910	-6.884	0.53181	T	.	.	0.188	0.40473	B	.;.	.;.	5.293423	0.88871	29.8	0.99875856960660048	0.95328	0.84864	0.43957	D	ALL	0.707974	0.66253	D	0.682811629709604	0.78506	6.885479	0.630603019474987	0.77173	6.62872	1.0	0.98316	0.437478	0.07067	0	0.484254	0.07192	0	0.52208	0.10781	0	0.603991	0.37454	0	.	.	4.86	3.92	0.44525	6.539000	0.73760	10.520000	0.83401	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0766:0.0:0.9234:0.0	13.683	0.61974	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	534.43	39	chr1	167553591	.	G	A	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.799;DP=380;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.06;SOR=0.506	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1058	9	0	1	0
chr1	167846128	167846128	A	G	exonic	ADCY10	.	nonsynonymous SNV	ADCY10:NM_001167749:exon17:c.T2114C:p.I705T,ADCY10:NM_001297772:exon20:c.T2297C:p.I766T,ADCY10:NM_018417:exon20:c.T2573C:p.I858T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00729502085192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33418	T	0.068	0.44106	T	0.842	0.49745	P	0.257	0.45773	B	0.013807	0.28724	N	0.299531	0.746814	0.29679	N	2.39	0.68882	M	1.54	0.30133	T	-0.81	0.27876	N	0.833	0.82862	-1.0248	0.22148	T	0.073	0.29515	T	9	0.3635782	0.52924	T	0.007295	0.19334	T	0.186	0.46104	0.598	0.72862	0.365509141856	0.36162	0.5452894207360326	0.54454	0.237806744709	0.26327	0.557313978672	0.46888	T	0.057504	0.30584	T	-0.102996	0.35928	T	-0.385723	0.35053	T	0.789324462413788	0.45645	D	0.764224	0.39120	T	0.114207916	0.26965	0.10086195	0.24128	0.114207916	0.26965	0.10086195	0.24127	-4.214	0.26954	T	.	.	0.542	0.66450	A	.;.;.	.;.;.	2.198950	0.28042	17.67	0.99182046900583209	0.54701	0.76887	0.37747	D	AEFDBI	0.322791	0.42518	N	0.295153804627967	0.55902	3.754388	0.355739544196817	0.58855	4.058714	0.960280346607231	0.28479	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	2.218000	0.42530	4.652000	0.44201	0.756000	0.94297	0.956000	0.33378	0.998000	0.33993	0.955000	0.50612	1.0:0.0:0.0:0.0	12.659	0.56164	700	0.57880	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.42	46	chr1	167846128	.	A	G	46.42	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.798;DP=609;ExcessHet=0.2348;FS=223.757;InbreedingCoeff=-0.0877;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.16;ReadPosRankSum=0.544;SOR=7.978	GT:AD:DP:GQ:PL	0/1:110,23:133:57:57,0,2310	8	0	2	0
chr1	168045049	168045049	G	C	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001349780:exon13:c.G1408C:p.E470Q,DCAF6:NM_001017977:exon14:c.G1849C:p.E617Q,DCAF6:NM_001349777:exon14:c.G1468C:p.E490Q,DCAF6:NM_001349778:exon14:c.G1408C:p.E470Q,DCAF6:NM_001349779:exon14:c.G1408C:p.E470Q,DCAF6:NM_001198957:exon15:c.G1987C:p.E663Q,DCAF6:NM_001349774:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349775:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349776:exon15:c.G1468C:p.E490Q,DCAF6:NM_018442:exon15:c.G1909C:p.E637Q,DCAF6:NM_001198956:exon16:c.G2080C:p.E694Q,DCAF6:NM_001349773:exon16:c.G2080C:p.E694Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00323947396023	7.7e-05	.	0.0003	0	0	0	0	0.0001	0.0011	0.0018	0.0002781	43	154602	rs147907503	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	4.475e-05	0	0	3.744e-05	0.0007	0.0001	0.0003	0.0021	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0003	0	0	0	0	0.0002	0	0.0019	0.06	0.39097	T	0.553	0.09931	T	0.321	0.53183	B	0.334	0.44752	B	0.053270	0.22822	N	0.440276	1	0.08975	N	1.905	0.50856	L	1.58	0.29085	T	-0.75	0.22944	N	0.113	0.10769	-1.0741	0.08535	T	0.023	0.09741	T	9	0.010872841	0.00240	T	0.003239	0.07147	T	0.050	0.13987	.	.	0.282416095408	0.27849	0.1277394271299239	0.12699	0.402464485075	0.41201	0.270843923092	0.06251	T	0.029898	0.21320	T	-0.566031	0.00234	T	-0.593105	0.13398	T	0.0276251095796761	0.01633	T	0.768023	0.39669	T	0.0970485	0.22870	0.06738257	0.13933	0.113138095	0.26722	0.07012239	0.14860	-3.936	0.25995	T	0.1954546748012736	0.25786	0.090	0.12891	B	.;.;.;.	.;.;.;.	2.029792	0.25795	16.89	0.97351872574069476	0.33529	0.70758	0.34724	D	AEFGBI	0.237327	0.35962	N	-0.396958512177019	0.25577	1.389465	-0.354555808344517	0.26369	1.456023	0.999990418588841	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.38	0.37806	2.173000	0.42099	3.797000	0.39853	0.618000	0.50648	0.729000	0.28913	0.766000	0.26662	0.989000	0.64315	0.0:0.2862:0.7138:0.0	14.113	0.64666	555	0.71762	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5899.43	38	chr1	168045049	.	G	C	5899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.934;DP=657;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=0.789;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,108,1620:.	9	0	1	0
chr1	168542093	168542093	C	T	exonic	XCL2	.	nonsynonymous SNV	XCL2:NM_003175:exon2:c.G76A:p.V26I	.	437	1082	3	0	0	3	0.0013844	.	.	.	2376021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.00194226879609	0.0003	.	0.0005	0	0	0	0	0.0009	0	0.0001	0.0003946	61	154602	rs142896007	0.0003	0.0003	0.0003	0.0004	0.0051	0.0003	0.0003	0.0036	0.0031	0.0002	0.0001	0.0086	0	0	0.0051	0.0001	0.0008	7.831e-05	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.449e-05	0	6.992e-05	0.0062	0	0	0.0035	0.0002	0.0010	0	0.034	0.44029	D	0.237	0.24621	T	0.316	0.32901	B	0.23	0.38212	B	0.114827	0.19259	N	0.476626	0.988584	0.24394	N	1.81	0.47622	L	3.77	0.03863	T	-0.37	0.13226	N	0.12	0.11054	-0.9637	0.38468	T	0.007	0.02439	T	9	0.006197512	0.00140	T	0.001942	0.03456	T	0.043	0.11576	.	.	0.148003135375	0.14442	0.08753379033153848	0.08686	0.214460058874	0.23979	0.32406270504	0.14036	T	0.008102	0.07453	T	-0.52326	0.00421	T	-0.683426	0.06776	T	0.0215918489946553	0.00864	T	0.451355	0.12777	T	0.044460643	0.07110	0.055122208	0.09611	0.044460643	0.07109	0.055122208	0.09610	-3.741	0.19925	T	.	.	0.090	0.12750	B	.	.	1.473837	0.18984	14.03	0.97501545238824583	0.34299	0.32913	0.24701	N	AEFDI	0.060656	0.11544	N	-0.438999129448045	0.24114	1.299806	-0.461996373386755	0.23209	1.264518	0.107184685770947	0.16549	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.49	2.49	0.29274	0.190000	0.16864	1.660000	0.27894	0.306000	0.19039	0.824000	0.30046	0.999000	0.35428	0.030000	0.13115	0.0:1.0:0.0:0.0	8.475	0.32171	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003080	0.000000	0.002747	0.014970	0.000000	0.008621	0.000000	0.000000	0.05	454.43	33	chr1	168542093	.	C	T	454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.303;DP=370;ExcessHet=0;FS=4.131;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=0.019;SOR=0.283	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr1	168580061	168580061	A	C	splicing	XCL1	NM_002995:exon2:c.62-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.376e-06	1.368e-06	1.368e-06	1.383e-06	9.023e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.023e-07	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152664	0.69518	D	-0.0184845	0.69129	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.580835	0.95435	35	0.99082145753969886	0.52002	0.82031	0.41323	D	AEFDBI	.	.	.	0.890172963893029	0.91269	10.79929	0.682692973284481	0.81068	7.440445	0.00307224065957958	0.09909	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.729263	0.43749	4.36	4.36	0.51643	3.786000	0.55136	10.957000	0.84437	0.750000	0.87069	0.994000	0.38300	1.000000	0.68203	0.821000	0.38685	1.0:0.0:0.0:0.0	10.148	0.41951	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	670.43	34	chr1	168580061	.	A	C	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.796;DP=461;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=0;QD=8.38;ReadPosRankSum=-0.319;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1042	9	0	1	0
chr1	169376831	169376831	G	A	exonic	BLZF1	.	nonsynonymous SNV	BLZF1:NM_001320972:exon3:c.G320A:p.G107E,BLZF1:NM_001320973:exon3:c.G320A:p.G107E,BLZF1:NM_003666:exon3:c.G320A:p.G107E	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00661334191684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.724e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.20306	T	0.25	0.27767	T	0.36	0.33860	B	0.181	0.35894	B	0.000196	0.48115	N	0.218694	0.980815	0.41238	D	2.125	0.59049	M	0.93	0.44065	T	-1.87	0.43717	N	0.172	0.20660	-1.0467	0.15332	T	0.023	0.09741	T	9	0.08364481	0.13936	T	0.006613	0.17444	T	0.035	0.08770	0.171	0.07655	0.369682402691	0.36581	0.28186149848189496	0.28099	0.15821672533	0.17867	0.373172223568	0.21287	T	0.005141	0.22223	T	-0.134547	0.30762	T	-0.431044	0.29817	T	0.400319010019302	0.28954	T	0.713029	0.32487	T	0.03596796	0.04335	0.07333592	0.15924	0.03596796	0.04334	0.07333592	0.15924	-2.55	0.06132	T	.	.	0.141	0.30817	B	.;.;.;.;.	.;.;.;.;.	2.512435	0.32452	19.05	0.94308663687946048	0.24624	0.96344	0.68680	D	AEFBI	0.436331	0.49659	N	-0.307903103380761	0.28847	1.594583	-0.112108047468295	0.34901	2.012898	0.905749274023267	0.26212	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.4	4.48	0.53973	3.779000	0.55085	6.237000	0.55265	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1604:0.1502:0.6894:0.0	6.480	0.21254	492	0.76569	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2175.43	34	chr1	169376831	.	G	A	2175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.418;DP=482;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.07;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	9	0	1	0
chr1	169523286	169523286	A	G	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon21:c.T5959C:p.S1987P	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1291890	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0988786243456	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174590593	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.273	0.22154	T	0.019	0.17989	B	0.034	0.22546	B	0.000253	0.46924	N	0.227351	0.703128	0.30084	N	1.265	0.31966	L	-5.26	0.98928	D	-3.21	0.64826	D	0.26	0.32812	0.248	0.86706	D	0.778	0.92474	D	9	0.21753481	0.38369	T	0.098879	0.77015	D	0.391	0.70684	0.462	0.53079	0.787638403273	0.78566	0.8790961563307662	0.87876	0.129275401982	0.14574	0.384943783283	0.22956	T	0.515786	0.82971	D	0.0883116	0.62999	D	-0.110923	0.62537	T	0.777237236499786	0.44878	D	0.563244	0.19836	T	0.22129752	0.44703	0.41166508	0.65391	0.22129752	0.44703	0.41166508	0.65391	-5.915	0.45562	T	.	.	0.122	0.25396	B	.;.	.;.	2.661970	0.34679	19.69	0.99197397231524476	0.55171	0.73646	0.36023	D	AEFDBI	0.602258	0.59419	D	-0.327675844970627	0.28101	1.547179	-0.182199626769884	0.32191	1.828973	0.00686038363693563	0.11325	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	2.01	0.25568	1.100000	0.30637	2.354000	0.32331	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.992000	0.67800	0.6607:0.0:0.3393:0.0	9.527	0.38336	804	0.43891	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1707.43	35	chr1	169523286	.	A	G	1707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=434;ExcessHet=0;FS=4.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=2.63;SOR=1.15	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	9	0	1	0
chr1	169529782	169529782	G	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.C5245G:p.L1749V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	1496	25	0	0	25	0.00828638	.	.	.	718365	Budd-Chiari_syndrome|Thrombophilia_due_to_thrombin_defect|Congenital_factor_V_deficiency|F5-related_disorder|Thrombocytopenia|Abnormal_bleeding|not_provided|Thrombophilia_due_to_activated_protein_C_resistance|Factor_V_deficiency	Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|.|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|MedGen:C3661900|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.531	0.127375911755	0.0012	0.00239617	0.0024	9.617e-05	0.0016	0	0.0014	0.0020	0.0044	0.0081	0.0023027	356	154602	rs6034	0.0021	0.0021	0.0018	0.0024	0.0086	0.0020	0.0020	0.0081	0.0079	0.0002	0.0020	0.0057	0	0.0012	0.0052	0.0016	0.0022	0.0086	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0014	0.0059	0.0052	0.0003	0	0.0010	0.0072	0	0.0016	0	0.0020	0.0043	0.0079	0.092	0.31682	T	0.067	0.44302	T	0.941	0.52883	P	0.776	0.57120	P	0.000277	0.46590	N	0.149614	0.997303	0.43782	D	1.19	0.30124	L	-5.61	0.99229	D	-2.29	0.50992	N	0.131	0.12627	0.792	0.94311	D	0.884	0.96142	D	9	0.008653462	0.00196	T	0.127376	0.80917	D	0.531	0.80247	.	.	0.859021010035	0.85765	0.8314894973966273	0.83107	0.273368654784	0.29839	0.376278698444	0.21728	T	0.320223	0.69143	T	-0.238413	0.15552	T	-0.110253	0.62591	T	0.060801956803737	0.07294	T	0.812719	0.47330	T	0.031336132	0.02956	0.07390459	0.16111	0.03905512	0.05320	0.072375126	0.15606	-6.843	0.52878	T	0.4754015278761274	0.55507	0.167	0.36752	B	.;.	.;.	2.063315	0.26232	17.05	0.99571968508615394	0.72440	0.42667	0.26929	N	AEFBCI	0.561513	0.56948	D	-0.214073832332537	0.32555	1.837265	-0.244272608897794	0.29969	1.683406	0.999966962505441	0.48965	0.487112	0.14033	0	0.547309	0.14657	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	5.5	1.34	0.21018	0.796000	0.26646	1.029000	0.23465	-0.154000	0.11915	0.501000	0.26963	0.489000	0.25143	0.548000	0.30127	0.1266:0.2455:0.5015:0.1264	3.938	0.08814	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1014.43	41	chr1	169529782	.	G	C	1014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.352;DP=456;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.709;SOR=0.943	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr1	169530940	169530940	G	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon15:c.C5054G:p.T1685S	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1493	29	0	0	29	0.00961857	.	.	.	277248	F5-related_disorder|Factor_V_deficiency|not_provided|Budd-Chiari_syndrome|Thrombophilia_due_to_activated_protein_C_resistance|Abnormal_bleeding|Thrombocytopenia|Thrombophilia_due_to_thrombin_defect|Congenital_factor_V_deficiency	.|Human_Phenotype_Ontology:HP:0003225,MONDO:MONDO:0020586,MedGen:C4317320,Orphanet:326|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002639,MONDO:MONDO:0010947,MedGen:C0856761,OMIM:600880,Orphanet:131|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MONDO:MONDO:0008559,MedGen:C3160733,OMIM:188050|MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.224	0.0315810544892	0.0012	0.00239617	0.0024	9.63e-05	0.0016	0	0.0014	0.0020	0.0044	0.0081	0.0022962	355	154602	rs6011	0.0021	0.0021	0.0018	0.0024	0.0086	0.0020	0.0020	0.0081	0.0079	0.0002	0.0020	0.0057	0	0.0012	0.0052	0.0016	0.0022	0.0086	0.0017	0.0017	0.0017	0.0017	0.0079	0.0015	0.0014	0.0059	0.0052	0.0003	0	0.0010	0.0072	0	0.0016	0	0.0020	0.0043	0.0079	0.913	0.02519	T	1.0	0.01155	T	0.067	0.23653	B	0.048	0.24975	B	0.176198	0.17231	N	0.615129	1	0.08975	N	-1.255	0.00759	N	-5.06	0.98629	D	-0.47	0.15178	N	0.103	0.08646	-0.3330	0.74046	T	0.515	0.81845	D	9	0.005989909	0.00134	T	0.031581	0.53626	D	0.224	0.52174	0.299	0.26522	0.569173210356	0.56582	0.7090553199805895	0.70847	0.0834121381475	0.09409	0.343705445528	0.16991	T	0.302042	0.67446	T	-0.374601	0.03367	T	-0.305878	0.44100	T	0.0122122248052273	0.00196	T	0.559044	0.19511	T	0.043750837	0.06875	0.106728494	0.25681	0.05523722	0.10706	0.11016216	0.26559	-3.049	0.10719	T	.	.	0.112	0.22098	B	.;.	.;.	0.563073	0.09319	6.097	0.40620142436926765	0.02878	0.15814	0.19094	N	AEFBI	0.188650	0.31592	N	-0.7881186899421	0.13619	0.6722284	-0.615650689673163	0.19091	1.02277	0.873743343668249	0.25472	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.35	2.24	0.27264	0.431000	0.21163	1.047000	0.23605	0.676000	0.76740	0.133000	0.23395	0.617000	0.25797	0.964000	0.52637	0.0907:0.4013:0.2701:0.2378	3.198	0.06246	772	0.48957	Multicopper oxidase, type 3;Multicopper oxidase, type 3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1095.43	34	chr1	169530940	.	G	C	1095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.389;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	9	0	1	0
chr1	169550696	169550696	G	A	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon9:c.C1340T:p.P447L	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.399480711972	7.7e-05	.	3.298e-05	0	0	0	0	4.498e-05	0	6.058e-05	2.59e-05	4	154602	rs368387623	1.437e-05	1.437e-05	1.361e-05	1.513e-05	2.987e-05	9.23e-06	7.84e-06	5.75e-06	4.55e-06	2.987e-05	0	0	2.52e-05	0	0	1.079e-05	9.935e-05	1.159e-05	2.629e-05	2.627e-05	0	5.382e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.414e-05	0	0	0	0	0	0	4.41e-05	0	0	0.028	0.46513	D	0.08	0.42086	T	0.997	0.70673	D	0.857	0.61067	P	0.002315	0.36806	N	0.302332	0.999991	0.81001	D	2.585	0.75554	M	-5.09	0.98684	D	-7.03	0.93810	D	0.392	0.43320	1.082	0.98947	D	0.938	0.97954	D	9	0.569925	0.65261	D	0.399481	0.93366	D	0.618	0.85144	.	.	0.912855958394	0.91197	0.852963332444918	0.85258	0.381810344723	0.39529	0.591434836388	0.51697	T	0.431246	0.77943	T	0.249648	0.78567	D	0.228483	0.84594	D	0.836836218833923	0.49071	D	0.880112	0.60710	D	0.12226369	0.28735	0.17847614	0.40520	0.12226369	0.28734	0.17847614	0.40519	-5.715	0.43827	T	0.8736941785216383	0.93362	0.652	0.71022	P	.;.	.;.	3.607858	0.50997	23.0	0.99741095185605277	0.83482	0.88234	0.48071	D	AEFGBCI	0.770964	0.70574	D	0.729697727500512	0.81579	7.555479	0.737095285657593	0.85188	8.507144	0.997104245415345	0.35279	0.533608	0.22052	0	0.615948	0.52940	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.49	5.49	0.81022	5.365000	0.65866	11.744000	0.95258	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1155:0.0:0.8845:0.0	10.878	0.46133	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	813.43	34	chr1	169550696	.	G	A	813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=389;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.893;SOR=0.88	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1247	9	0	1	0
chr1	169983295	169983295	T	C	exonic	KIFAP3	.	nonsynonymous SNV	KIFAP3:NM_001204516:exon12:c.A1349G:p.D450G,KIFAP3:NM_001204517:exon13:c.A1361G:p.D454G,KIFAP3:NM_001375830:exon13:c.A1481G:p.D494G,KIFAP3:NM_001375831:exon13:c.A1481G:p.D494G,KIFAP3:NM_014970:exon13:c.A1481G:p.D494G,KIFAP3:NM_001204514:exon14:c.A1247G:p.D416G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0146530455775	.	.	1.737e-05	0	0	0.0001	0	1.588e-05	0	0	1.29e-05	2	154602	rs774173222	1.375e-06	2.736e-06	1.368e-06	1.382e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.328e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.33923	T	0.145	0.34837	T	0.026	0.19406	B	0.022	0.19653	B	0.000000	0.84330	D	0.089331	1	0.81001	D	1.415	0.35607	L	0.7	0.51474	T	-4.01	0.76576	D	0.703	0.71765	-1.0793	0.07485	T	0.055	0.23300	T	9	0.41763115	0.56649	T	0.014653	0.34905	T	0.215	0.50805	0.587	0.71497	0.476676017676	0.47298	0.5318496622777737	0.53109	0.444870368862	0.44381	0.738318383694	0.72725	T	0.353728	0.72098	T	-0.152949	0.27851	T	-0.28502	0.46288	T	0.872366309165955	0.52224	D	0.941406	0.78138	D	0.58824754	0.72056	0.45085886	0.68045	0.58824754	0.72057	0.45085886	0.68046	-9.974	0.79855	D	.	.	0.300	0.54675	B	.;.;.;.	.;.;.;.	3.659624	0.51986	23.2	0.99099632362031609	0.52421	0.98488	0.83308	D	AEFGBI	0.890199	0.82500	D	0.0136404569544633	0.42475	2.559922	0.199383161820487	0.49814	3.180171	0.999863428430652	0.44398	0.634777	0.41761	0	0.633656	0.55848	0	0.618467	0.43123	0	0.645665	0.59343	0	.	.	5.12	5.12	0.69459	7.496000	0.80367	6.119000	0.53761	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.883	0.70188	478	0.77585	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	37	chr1	169983295	.	T	C	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.777;DP=429;ExcessHet=0;FS=8.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.64;SOR=0.408	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	170998254	170998254	G	A	exonic	MROH9	.	nonsynonymous SNV	MROH9:NM_001163629:exon15:c.G1576A:p.V526I,MROH9:NM_025063:exon15:c.G1576A:p.V526I	.	437	996	79	10	0	99	0.0473458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0069	0.0103834	0.0113	0.0052	0.0071	0.0003	0.0145	0.0092	0.01	0.0312	0.0104268	1612	154602	rs151291051	0.0082	0.0082	0.0075	0.0089	0.0304	0.0081	0.0080	0.0294	0.0290	0.0051	0.0074	0.0143	2.521e-05	0.0129	0.0250	0.0063	0.0101	0.0304	0.0081	0.0082	0.0075	0.0089	0.0313	0.0078	0.0076	0.0273	0.0257	0.0042	0.0077	0.0098	0.0156	0.0006	0.0154	0.0374	0.0074	0.0104	0.0313	0.735	0.03753	T	0.813	0.05165	T	0.226	0.30455	B	0.02	0.19048	B	0.812073	0.09243	N	0.906517	0.999997	0.08975	N	0.09	0.08384	N	-0.2	0.66113	T	-0.26	0.11185	N	0.105	0.08925	-1.0196	0.23845	T	0.031	0.13286	T	10	0.0030203462	0.00049	T	.	.	.	0.057	0.16321	.	.	.	.	0.19145774194199625	0.19063	0.0480783259734	0.05242	0.432100772858	0.29495	T	0.006903	0.06325	T	-0.513668	0.00478	T	-0.487627	0.23639	T	0.0017889166806405	0.00018	T	0.475952	0.14261	T	0.024690988	0.01327	0.026309256	0.00713	0.024690988	0.01327	0.026309256	0.00713	-3.166	0.12070	T	.	.	0.092	0.13644	B	.;.	.;.	0.588054	0.09566	6.340	0.53438278281536755	0.04940	0.00054	0.00410	N	AEFBI	0.014009	0.00207	N	-1.1659067628566	0.05523	0.2520136	-1.09123380210306	0.07872	0.38468	1.92528234130716E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.9	0.44240	1.463000	0.34887	2.664000	0.33900	-1.060000	0.01619	0.008000	0.17931	0.186000	0.23459	0.000000	0.00833	0.8949:0.0:0.1051:0.0	7.275	0.25451	837	0.37933	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.035354	0.014946	0.008772	0.150000	0.017241	0.024390	0.030303	0.1	2467.14	35	chr1	170998254	.	G	A	2467.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.23;DP=504;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.09;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	8	0	2	0
chr1	171205623	171205623	G	C	exonic	FMO2	.	nonsynonymous SNV	FMO2:NM_001301347:exon5:c.G512C:p.R171T,FMO2:NM_001365900:exon6:c.G977C:p.R326T,FMO2:NM_001460:exon7:c.G1172C:p.R391T	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0049	0.0115815	0.0040	0.0172	0.0047	0	0	0.0006	0.0036	0.0150	0.0035834	554	154602	rs28369899	0.0016	0.0016	0.0012	0.0019	0.0175	0.0015	0.0015	0.0163	0.0158	0.0175	0.0032	3.911e-05	2.525e-05	0	0.0135	0.0003	0.0032	0.0107	0.0055	0.0055	0.0053	0.0057	0.0154	0.0052	0.0050	0.0144	0.0140	0.0154	0	0.0062	0	0	0	0.0102	0.0005	0.0047	0.0112	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000002	0.62929	D	0.094778	0.999957	0.52396	D	.	.	.	0.41	0.57100	T	-4.86	0.81187	D	0.716	0.71854	-0.0738	0.80691	T	0.401	0.75195	T	10	0.012713671	0.00272	T	.	.	.	0.473	0.76619	.	.	0.927178182052	0.92643	0.769924132341514	0.76941	.	.	0.644250631332	0.59169	T	.	.	.	-0.329994	0.06112	T	-0.233164	0.51465	T	0.0435719167914988	0.04342	T	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.59016	A	.	.	5.146066	0.86174	28.8	0.98568330491178069	0.43076	0.99608	0.97942	D	AEFBI	0.871379	0.79274	D	0.950511489294664	0.94005	12.43282	0.863264346806545	0.93768	12.26565	0.999999999830897	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	9.984000	0.99176	7.393000	0.58525	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	18.647	0.91371	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016327	0.010101	0.023098	0.018987	0.000000	0.017241	0.006098	0.018939	0.05	1046.43	40	chr1	171205623	.	G	C	1046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.8;DP=417;ExcessHet=0;FS=4.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.53;SOR=1.321	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	9	0	1	0
chr1	172442543	172442543	T	C	exonic	PIGC	.	nonsynonymous SNV	PIGC:NM_002642:exon2:c.A80G:p.N27S,PIGC:NM_153747:exon2:c.A80G:p.N27S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	0.0941146133909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.045801	1	0.81001	D	3.015	0.86134	M	-0.07	0.63738	T	-4.94	0.81835	D	0.821	0.81658	-0.1107	0.79851	T	0.401	0.75230	T	10	0.9731989	0.96989	D	0.094115	0.76195	D	0.633	0.85924	0.887	0.97178	0.872658441737	0.87141	0.8285093215994572	0.82808	0.51915224536	0.49745	0.509147822857	0.40103	T	0.362303	0.72823	T	0.0594623	0.59545	T	-0.152363	0.59034	T	0.998681604862213	0.94856	D	0.925407	0.72589	D	0.9345867	0.94698	0.88781106	0.94112	0.9345867	0.94699	0.88781106	0.94112	-7.705	0.59042	D	0.7359316938246625	0.81782	0.212	0.44055	B	.;.	.;.	4.412284	0.68264	25.2	0.99879764793441905	0.95572	0.97513	0.75238	D	ALL	0.889738	0.82412	D	0.836271206962182	0.88312	9.531684	0.785841234848579	0.88793	9.71711	1.0	0.98316	0.722319	0.85440	0	0.662677	0.63036	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.35	5.35	0.76297	7.500000	0.80424	7.916000	0.74276	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.177	0.65087	654	0.62520	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4875.12	151	chr1	172442543	.	T	C	4875.12	.	AC=2;AF=0.1;AN=20;DP=745;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.29;SOR=0.909	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	9	1	0	0
chr1	173207098	173207098	C	T	exonic	TNFSF4	.	nonsynonymous SNV	TNFSF4:NM_003326:exon1:c.G79A:p.V27M	.	426	1070	24	2	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	0.0002	0.00199681	0.0024	9.612e-05	0.0006	0	0	0.0004	0.0033	0.0153	0.0020181	312	154602	rs199835957	0.0012	0.0012	0.0007	0.0016	0.0149	0.0011	0.0011	0.0142	0.0140	0	0.0009	0.0012	5.039e-05	0	0.0030	0.0002	0.0015	0.0149	0.0007	0.0007	0.0004	0.0010	0.0139	0.0006	0.0006	0.0112	0.0103	4.813e-05	0	0.0011	0.0006	0.0002	0	0	0.0002	0.0009	0.0139	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.927	0.66185	D	0.056225	0.22577	N	0.379769	0.762336	0.34053	D	1.955	0.52871	M	.	.	.	-2.73	0.58085	D	0.508	0.53972	-0.5031	0.68538	T	0.261	0.63230	T	9	0.009205133	0.00208	T	.	.	.	0.192	0.47115	.	.	0.347659731818	0.34379	0.6909411628972086	0.69034	0.837915334682	0.67891	0.408709019423	0.26278	T	0.819008	0.95554	D	-0.315653	0.07260	T	-0.213866	0.53325	T	0.0776720288139792	0.09686	T	0.761924	0.38711	T	0.15038362	0.34238	0.21194471	0.45643	0.15038362	0.34238	0.21194471	0.45642	-5.079	0.37685	T	.	.	0.333	0.55452	B	.	.	3.436727	0.47789	22.5	0.9987778635413902	0.95410	0.76223	0.37367	D	AEFDGBCIJ	0.238707	0.36079	N	0.545485646877872	0.69808	5.409865	0.48935201874849	0.67284	5.063272	0.999999999772002	0.74766	0.516011	0.20929	0	0.52208	0.09955	0	0.577349	0.28860	0	0.56214	0.19341	0	.	.	5.67	4.75	0.59954	1.821000	0.38680	2.123000	0.30732	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.341000	0.25455	0.0:0.9119:0.0:0.0881	10.932	0.46434	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.007576	0.1	4394.14	33	chr1	173207098	.	C	T	4394.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.827;DP=675;ExcessHet=0.2348;FS=0.775;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.762;SOR=0.646	GT:AD:DP:GQ:PL	0/1:94,84:178:99:1941,0,2266	8	0	2	0
chr1	174449165	174449165	C	T	exonic	GPR52	.	nonsynonymous SNV	GPR52:NM_005684:exon1:c.C1054T:p.P352S	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0111759228475	0.0003	0.000599042	0.0008	0	8.678e-05	0	0.0003	0.0005	0.0023	0.0044	0.0006792	105	154602	rs200680459	0.0005	0.0005	0.0004	0.0006	0.0037	0.0005	0.0004	0.0033	0.0032	6.053e-05	9.215e-05	0	0	0.0005	0.0007	0.0003	0.0004	0.0037	0.0004	0.0004	0.0003	0.0004	0.0050	0.0003	0.0003	0.0034	0.0029	0	0	0.0001	0	0	0.0004	0	0.0004	0	0.0050	0.951	0.02141	T	0.253	0.23501	T	0.002	0.09854	B	0.003	0.08700	B	0.000060	0.53742	D	0.000000	1	0.81001	D	-0.205	0.04094	N	0.21	0.59983	T	0.7	0.02163	N	0.529	0.55799	-0.9598	0.39218	T	0.118	0.41473	T	10	0.006215185	0.00140	T	0.011176	0.28538	T	0.225	0.52323	.	.	0.616342586736	0.61324	0.3486922598771574	0.34783	0.37739256135	0.39174	0.543717801571	0.44971	T	0.009747	0.08853	T	-0.326206	0.06402	T	-0.242505	0.50553	T	0.0818823738501277	0.10227	T	0.79972	0.44511	T	0.08512125	0.19732	0.14697002	0.34798	0.08512125	0.19732	0.14697002	0.34797	-3.51	0.16572	T	.	.	0.108	0.20547	B	.	.	2.781790	0.36545	20.3	0.96541839564533705	0.30190	0.98095	0.79555	D	AEFDGBIJ	0.910210	0.86784	D	-0.0702686479789215	0.38701	2.270757	0.199602129677502	0.49826	3.181233	0.999999999997965	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.0	0.00009	3	.	.	6.17	6.17	0.99707	7.542000	0.81035	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.879	0.99870	281	0.88893	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	1800.14	40	chr1	174449165	.	C	T	1800.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.097;DP=511;ExcessHet=0.2348;FS=0.538;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.53;SOR=0.638	GT:AD:DP:GQ:PL	0/1:55,41:96:99:883,0,1320	8	0	2	0
chr1	175085490	175085490	G	T	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon6:c.G1320T:p.R440S	.	427	1036	53	6	0	65	0.0304165	.	.	.	706885	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0043	0.00858626	0.0097	0.0003	0.0058	0	0.0024	0.0073	0.0228	0.0346	0.0077295	1195	154602	rs6664276	0.0066	0.0067	0.0058	0.0075	0.0296	0.0065	0.0065	0.0286	0.0283	0.0007	0.0057	0.0080	2.523e-05	0.0014	0.0186	0.0054	0.0077	0.0296	0.0055	0.0055	0.0053	0.0057	0.0309	0.0052	0.0051	0.0269	0.0253	0.0008	0.0308	0.0087	0.0081	0	0.0015	0.0204	0.0063	0.0066	0.0309	0.956	0.02116	T	0.829	0.11968	T	0.59	0.39078	P	0.25	0.39011	B	0.005966	0.32369	N	0.336036	0.601732	0.32544	D	1.435	0.35949	L	1.63	0.28002	T	-0.98	0.25986	N	0.381	0.50598	-1.0141	0.25625	T	0.032	0.13635	T	10	0.0054251254	0.00119	T	.	.	.	0.084	0.24469	0.34	0.33141	0.317084106153	0.31322	0.45807528365645644	0.45725	0.186432944156	0.20951	0.327108561993	0.14498	T	0.001212	0.00709	T	-0.504897	0.00536	T	-0.475713	0.24904	T	0.00896777639948186	0.00112	T	0.548745	0.18852	T	0.09944625	0.23469	0.09248311	0.21797	0.09944625	0.23469	0.09248311	0.21796	-4.779	0.34345	T	.	.	0.282	0.52227	B	.;.;.	.;.;.	1.756838	0.22349	15.58	0.37462397471296272	0.02470	0.56796	0.30209	D	AEFBI	0.309139	0.41553	N	-0.725968913115918	0.15295	0.7695202	-0.628736688381513	0.18756	1.003365	0.00126639096779767	0.08390	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	2.91	0.32903	0.435000	0.21228	1.463000	0.26696	-0.127000	0.13314	0.382000	0.26022	1.000000	0.68203	0.874000	0.41677	0.1436:0.1333:0.7231:0.0	7.738	0.27988	556	0.71678	Fibronectin type III;Fibronectin type III;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026210	0.000000	0.029891	0.020468	0.000000	0.068966	0.030675	0.026515	0.05	1999.43	39	chr1	175085490	.	G	T	1999.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.99;DP=518;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.74;SOR=0.711	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr1	175094013	175094013	G	C	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon7:c.G1348C:p.V450L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0210534560377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	0.02526	T	0.624	0.27855	T	0.052	0.22494	B	0.075	0.28327	B	0.036577	0.24506	N	0.370692	0.938582	0.26859	N	2.585	0.75554	M	0.39	0.57419	T	-1.35	0.33598	N	0.168	0.24883	-0.8924	0.48722	T	0.185	0.53496	T	10	0.13209909	0.25142	T	0.021053	0.43757	T	0.166	0.42578	0.401	0.43081	0.723736904769	0.72129	0.1936755395002431	0.19285	0.116441121497	0.13138	0.312438666821	0.12276	T	0.003509	0.02920	T	-0.147435	0.28713	T	-0.449556	0.27747	T	0.184918433427811	0.19540	T	0.70223	0.54193	T	0.18623883	0.40023	0.1430183	0.34003	0.18623883	0.40023	0.1430183	0.34002	-5.496	0.41831	T	.	.	0.099	0.18622	B	.;.;.	.;.;.	1.294938	0.16964	12.87	0.15553015491337271	0.00385	0.95971	0.66952	D	AEFBI	0.396096	0.47270	N	-0.369272237228606	0.26569	1.451083	-0.290610374154451	0.28407	1.58368	0.153821413606095	0.17484	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.4	4.49	0.54177	1.946000	0.39909	4.969000	0.46388	-0.127000	0.13314	0.925000	0.32113	1.000000	0.68203	0.422000	0.27272	0.0796:0.0:0.9204:0.0	12.308	0.54234	660	0.61921	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1368.43	34	chr1	175094013	.	G	C	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.196;DP=442;ExcessHet=0;FS=0.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.928;SOR=0.617	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1369	9	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	13668.7	91	chr1	175160810	.	C	*	13668.7	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.19;DP=749;ExcessHet=2.8389;FS=2.847;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=3.4;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,30:55:99:1|0:175160788_C_CCTT:1053,0,929:175160788	6	0	4	0
chr1	175160810	175160810	-	TTT	exonic	KIAA0040	.	nonframeshift insertion	KIAA0040:NM_001162895:exon3:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001319230:exon3:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001162894:exon4:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_014656:exon4:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001162893:exon5:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001319231:exon5:c.203_204insAAA:p.K75_D76insK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.809e-05	0.0006	0	0	0	0	0	0	0.0001921	5	26028	rs779709912	0.0002	0.0005	0.0002	0.0002	0.0018	0.0002	0.0002	0.0013	0.0012	0.0018	0.0007	4.936e-05	0.0002	0	0	0.0002	0.0002	9.894e-05	0.0004	0.0005	0.0003	0.0004	0.0009	0.0003	0.0002	0.0006	0.0005	0.0009	0	0.0003	0	0.0004	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	13668.7	91	chr1	175160810	.	C	CTTT	13668.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=749;ExcessHet=2.8389;FS=2.847;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=3.4;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:25,0:55:99:1|0:175160788_C_CCTT:1053,1129,2148:175160788	9	0	1	0
chr1	175403578	175403578	T	G	exonic	TNR	.	nonsynonymous SNV	TNR:NM_003285:exon4:c.A538C:p.N180H	.	415	1091	16	0	0	16	0.00727934	.	.	.	226705	Parkinson_disease|not_provided	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.235	0.015143269266	0.0040	0.00219649	0.0043	0.0014	0.0017	0	0.0006	0.0049	0.0033	0.0099	0.0043208	668	154602	rs61731112	0.0055	0.0055	0.0053	0.0056	0.0103	0.0054	0.0053	0.0098	0.0095	0.0007	0.0020	0.0008	0	0.0006	0.0040	0.0059	0.0049	0.0103	0.0034	0.0034	0.0036	0.0033	0.0108	0.0032	0.0031	0.0085	0.0076	0.0010	0	0.0017	0.0009	0	0.0011	0	0.0056	0.0043	0.0108	0.059	0.37536	T	0.004	0.74150	D	0.943	0.53072	P	0.646	0.52296	P	0.000002	0.62929	D	0.099447	0.991967	0.41520	D	2.635	0.77114	M	-0.23	0.66652	T	-3.04	0.62863	D	0.45	0.53181	-0.3481	0.73608	T	0.333	0.70051	T	10	0.012104988	0.00261	T	0.015143	0.35698	T	0.235	0.53788	.	.	0.680615255321	0.67789	0.30089657972397504	0.30002	0.594975163302	0.54791	0.480174928904	0.36081	T	0.706665	0.91599	D	-0.35142	0.04638	T	-0.270886	0.47730	T	0.0187850564752614	0.00590	T	0.90061	0.65471	D	0.3260392	0.55144	0.29151744	0.55177	0.3260392	0.55144	0.29151744	0.55176	-6.494	0.50240	T	.	.	0.151	0.33342	B	.;.	.;.	4.181553	0.62951	24.5	0.99696345106303663	0.80316	0.99641	0.98258	D	AEFDBI	0.943134	0.94859	D	0.711461017713127	0.80383	7.282298	0.738660711939347	0.85306	8.541781	0.738967395217989	0.23180	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.02	6.02	0.97559	7.882000	0.85748	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.206	0.81949	874	0.30607	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.017241	0.012195	0.026515	0.05	1505.43	35	chr1	175403578	.	T	G	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.167;DP=411;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.73;ReadPosRankSum=-0.254;SOR=0.996	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1263	9	0	1	0
chr1	176864350	176864350	C	G	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001364856:exon23:c.G3843C:p.R1281S,ASTN1:NM_004319:exon23:c.G3819C:p.R1273S	.	431	1077	13	1	0	15	0.00691563	.	.	.	3547154	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0140954752815	0.0003	0.000798722	0.0007	0.0002	0.0002	0	0	0.0006	0.0011	0.0023	0.0006533	101	154602	rs61758730	0.0006	0.0006	0.0005	0.0007	0.0023	0.0006	0.0006	0.0019	0.0018	0.0001	0.0002	0.0009	0	1.872e-05	0.0023	0.0006	0.0008	0.0022	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0016	7.223e-05	0	0.0003	0.0009	0	0	0	0.0006	0.0005	0.0031	0.003	0.68238	D	0.012	0.63918	D	0.03	0.20002	B	0.015	0.17295	B	0.000044	0.53742	D	0.148909	0.998951	0.81001	D	.	.	.	2.78	0.11298	T	-1.47	0.35991	N	0.321	0.36148	-1.0556	0.12882	T	0.020	0.08407	T	10	0.010280341	0.00229	T	0.014095	0.33987	T	0.074	0.21613	0.283	0.23961	0.082315109003	0.07666	0.43392189449332963	0.43309	0.277079499431	0.30180	0.359603047371	0.19328	T	.	.	.	-0.465974	0.00901	T	-0.449379	0.27766	T	0.0271209418806168	0.01562	T	0.867413	0.56831	D	.	.	.	.	.	.	.	.	-3.337	0.14219	T	.	.	0.512	0.65132	A	.	.	3.282262	0.44973	22.0	0.99459415084374192	0.65736	0.72831	0.35636	D	AEFBI	0.229428	0.35295	N	-0.161038857680242	0.34767	1.988461	-0.000824670207248059	0.39680	2.356315	0.153100434590121	0.17473	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.61	3.62	0.40616	1.375000	0.33900	2.687000	0.34060	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1603:0.6844:0.1553:0.0	9.400	0.37589	573	0.70213	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	4225.12	134	chr1	176864350	.	C	G	4225.12	.	AC=2;AF=0.1;AN=20;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.53;SOR=1.153	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	9	1	0	0
chr1	177030881	177030881	A	C	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon4:c.T937G:p.S313A,ASTN1:NM_001364856:exon4:c.T937G:p.S313A,ASTN1:NM_004319:exon4:c.T937G:p.S313A,ASTN1:NM_207108:exon4:c.T937G:p.S313A	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00894008870987	7.7e-05	0.000199681	5.766e-05	9.61e-05	0	0	0	8.991e-05	0	0	7.76e-05	12	154602	rs201743279	0.0001	0.0001	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0	0	3.826e-05	0	0	0.0003	0.0002	6.624e-05	2.319e-05	5.911e-05	5.906e-05	7.712e-05	4.029e-05	8.821e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	7.218e-05	0	0	0	0	0	0	8.821e-05	0	0	1.0	0.00964	T	0.622	0.07394	T	0.002	0.09854	B	0.004	0.10090	B	0.000042	0.53742	D	0.161258	0.953875	0.37851	D	1.61	0.41143	L	2.55	0.13795	T	-0.77	0.22508	N	0.224	0.26475	-1.0204	0.23584	T	0.020	0.08500	T	10	0.068719864	0.09758	T	0.00894	0.23559	T	0.038	0.09825	.	.	0.278932316844	0.27492	0.2687508402052402	0.26788	0.193963078417	0.21732	0.617648720741	0.55397	T	0.034768	0.23454	T	-0.426083	0.01566	T	-0.59477	0.13255	T	0.0187909919768572	0.00591	T	0.618038	0.23687	T	.	.	.	.	.	.	.	.	-4.922	0.35982	T	.	.	0.063	0.03887	B	.;.;.	.;.;.	1.237781	0.16335	12.47	0.91563582661792098	0.20842	0.81927	0.41237	D	AEFI	0.295078	0.40528	N	-0.480461917472572	0.22722	1.21525	-0.296330804119179	0.28219	1.571668	4.6318037034505E-4	0.07066	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.76	1.79	0.23992	1.523000	0.35538	1.938000	0.29812	-0.055000	0.16736	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.639:0.3609:0.0:0.0	14.297	0.65875	843	0.36859	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1397.43	35	chr1	177030881	.	A	C	1397.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.923;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=0.937;SOR=0.738	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1128	9	0	1	0
chr1	179087996	179087996	C	T	exonic	TOR3A	.	nonsynonymous SNV	TOR3A:NM_022371:exon4:c.C725T:p.P242L	.	412	1108	2	0	0	2	0.000901713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0974155190817	.	0.000199681	0.0001	0	0	0	0.0003	6.03e-05	0	0.0004	9.06e-05	14	154602	rs546288971	8.006e-05	8.14e-05	2.723e-05	0.0001	0.0008	6.803e-05	6.357e-05	0.0007	0.0006	0	0	0	0	0.0003	0.0005	1.709e-05	0.0001	0.0008	7.221e-05	7.217e-05	3.854e-05	0.0001	0.0006	3.968e-05	3.125e-05	0.0002	8.985e-05	0	0	0	0	0	0.0005	0	4.41e-05	0	0.0006	0.005	0.63226	D	0.011	0.64786	D	0.989	0.62824	D	0.791	0.57754	P	0.000097	0.51296	D	0.174679	1	0.81001	D	3.54	0.93167	H	1.4	0.33630	T	-6.96	0.93509	D	0.234	0.29429	-0.6584	0.62346	T	0.202	0.55933	T	10	0.19838926	0.35807	T	0.097416	0.76770	D	0.227	0.52620	0.573	0.69695	0.570790795014	0.56744	0.6678901037297662	0.66727	0.303287657907	0.32650	0.439022421837	0.30443	T	0.303937	0.67627	T	-0.352006	0.04602	T	-0.355113	0.38618	T	0.380610548070494	0.28206	T	0.845015	0.52334	T	0.19701724	0.41550	0.1848789	0.41567	0.19701724	0.41550	0.1848789	0.41567	-8.427	0.66138	D	.	.	0.106	0.26451	B	.;.;.	.;.;.	3.549879	0.49897	22.9	0.99684273013473856	0.79507	0.80646	0.40230	D	AEFDBHCI	0.584701	0.58342	D	0.400768499213686	0.61464	4.347979	0.279115994315909	0.54321	3.597486	0.999999999999284	0.74766	0.730579	0.87903	0	0.698795	0.70079	0	0.749866	0.98131	0	0.648885	0.59868	0	.	.	5.33	4.42	0.52775	1.931000	0.39763	4.001000	0.41074	-0.176000	0.10722	0.193000	0.24225	0.999000	0.35428	0.571000	0.30675	0.153:0.7685:0.0:0.0785	8.342	0.31413	488	0.76887	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.05	801.43	39	chr1	179087996	.	C	T	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.705;DP=412;ExcessHet=0;FS=1.683;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=-0.493;SOR=0.531	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1137	9	0	1	0
chr1	179142975	179142975	G	T	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001136000:exon1:c.C70A:p.L24M,ABL2:NM_001168239:exon1:c.C70A:p.L24M,ABL2:NM_005158:exon1:c.C70A:p.L24M	Leukemia, acute myeloid, with eosinophilia (1)	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.0109824	0.0067	0.0001	0.0006	0	0	7.494e-05	0.0011	0.0480	0.0057179	884	154602	rs202125612	0.0029	0.0029	0.0015	0.0042	0.0455	0.0028	0.0028	0.0443	0.0438	5.974e-05	8.944e-05	3.827e-05	2.519e-05	0	0.0007	6.565e-05	0.0028	0.0455	0.0015	0.0016	0.0008	0.0023	0.0477	0.0014	0.0013	0.0426	0.0407	7.218e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0477	0.05	0.39575	D	0.229	0.44106	T	0.001	0.12996	B	0.004	0.14300	B	.	.	.	.	1	0.81001	D	.	.	.	-0.94	0.75438	T	-0.33	0.14000	N	0.252	0.30233	-0.4926	0.68916	T	0.443	0.78014	T	8	0.0033200681	0.00057	T	.	.	.	0.151	0.39764	.	.	0.566372544126	0.56301	.	.	.	.	0.299717366695	0.10359	T	.	.	.	-0.433076	0.01421	T	-0.358355	0.38243	T	0.0212990671265439	0.00832	T	0.408659	0.11777	T	.	.	.	.	.	.	.	.	-5.762	0.45333	T	.	.	0.102	0.17995	B	.;.;.	.;.;.	0.470252	0.08397	5.153	0.9679132504787068	0.31113	0.22449	0.21750	N	ALL	0.226394	0.35035	N	-0.339868788388351	0.27645	1.518464	-0.33240103306098	0.27059	1.498859	0.999999999997922	0.74766	0.441713	0.08003	0	0.491513	0.07743	0	0.55458	0.18720	0	0.56214	0.19341	0	.	.	5.34	4.41	0.52588	0.241000	0.17843	0.877000	0.22363	0.676000	0.76740	0.230000	0.24643	0.599000	0.25709	0.185000	0.21450	0.0:0.0:0.8304:0.1696	12.320	0.54300	516	0.74704	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006054	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.022727	0.05	1108.43	34	chr1	179142975	.	G	T	1108.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.526;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-2.156;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	9	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	275.73	33	chr1	179903964	.	A	C	275.73	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.052;DP=433;ExcessHet=0.2348;FS=128.957;InbreedingCoeff=-0.177;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=2.84;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:21:.:.:0,21,763:.	6	0	2	2
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	33.12	76	chr1	180014239	.	G	C	33.12	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.503;DP=692;ExcessHet=0.2348;FS=217.548;InbreedingCoeff=-0.192;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.2;ReadPosRankSum=0.492;SOR=9.558	GT:AD:DP:GQ:PL	0/0:49,15:64:35:0,35,1115	6	0	2	2
chr1	180092925	180092925	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon34:c.G6820C:p.A2274P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0191116207909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.991e-07	6.841e-07	1.385e-06	0	9.137e-07	0	0	.	.	0	0	0	0	0	0	9.137e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.297	0.20551	T	0.052	0.22494	B	0.015	0.17295	B	0.772679	0.09535	N	0.872298	1	0.08975	N	2.015	0.55033	M	0.39	0.57419	T	-0.89	0.24026	N	0.196	0.21580	-0.9999	0.29945	T	0.052	0.22153	T	9	0.06610116	0.09017	T	0.019112	0.41382	T	0.046	0.12618	0.21	0.12781	0.255117706274	0.25116	0.19644298035702398	0.19561	0.118513868032	0.13345	0.2208866328	0.01362	T	0.005192	0.04636	T	-0.13214	0.31151	T	-0.427587	0.30210	T	0.0403433108980627	0.03752	T	0.60154	0.22486	T	0.14435409	0.33137	0.11829464	0.28555	0.14435409	0.33137	0.11829464	0.28555	-3.579	0.17553	T	.	.	0.122	0.25298	B	.	.	0.554362	0.09227	6.012	0.20304094510770798	0.00724	0.11061	0.16381	N	AEFBI	0.150967	0.27535	N	-0.960744940966723	0.09453	0.4474358	-1.0658977450774	0.08378	0.4117239	0.662207768868743	0.22283	0.732398	0.92422	0	0.743671	0.97443	0	0.670488	0.60580	0	0.463824	0.07026	1	.	.	5.73	-1.26	0.08892	0.153000	0.16140	0.015000	0.13501	-0.726000	0.03757	0.003000	0.16062	0.000000	0.08366	0.025000	0.12405	0.5458:0.0:0.3013:0.1529	5.533	0.16283	359	0.84979	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1838.43	113	chr1	180092925	.	G	C	1838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.304;DP=439;ExcessHet=0;FS=4.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=1.53;SOR=1.162	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1087	9	0	1	0
chr1	180183935	180183935	T	C	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon7:c.T772C:p.F258L,QSOX1:NM_002826:exon7:c.T772C:p.F258L	.	426	1095	1	0	0	1	0.000456413	.	.	.	3308379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.00537943265676	7.7e-05	.	9.084e-05	0	8.637e-05	0	0	0.0002	0	0	9.06e-05	14	154602	rs377358722	6.774e-05	6.772e-05	5.31e-05	8.252e-05	0.0010	5.671e-05	5.261e-05	0.0005	0.0003	0	2.237e-05	0	0	0	0.0010	6.117e-05	9.936e-05	0.0002	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0001	3.516e-05	2.616e-05	6.804e-05	5.087e-05	0	0	6.54e-05	0	0	0	0	0.0001	0	0	0.117	0.34095	T	0.192	0.33109	T	0.322	0.35185	B	0.302	0.41118	B	0.000002	0.62929	D	0.140005	0.925755	0.36814	D	2.23	0.63091	M	3.65	0.15843	T	-4.32	0.76655	D	0.302	0.41459	-1.0860	0.06227	T	0.044	0.18783	T	10	0.24672094	0.41941	T	0.005379	0.13801	T	0.174	0.44019	0.413	0.45052	0.239305524855	0.23518	0.6316733159188503	0.63101	0.226845316457	0.25228	0.598880887032	0.52746	T	0.230147	0.59614	T	-0.29542	0.09098	T	-0.425459	0.30451	T	0.401188284158707	0.28987	T	0.688631	0.29780	T	0.4697587	0.65275	0.2551407	0.51192	0.4697587	0.65276	0.2551407	0.51191	-8.59	0.65241	D	.	.	0.725	0.74005	P	.;.	.;.	3.559732	0.50079	22.9	0.75496995653812093	0.11098	0.86389	0.45659	D	AEFDBI	0.222481	0.34697	N	-0.521760001378241	0.21377	1.134048	-0.524155859448656	0.21497	1.163239	0.602208084490153	0.21735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	3.02	0.33970	3.830000	0.55469	4.072000	0.41672	-0.157000	0.11712	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:0.0821:0.1529:0.765	6.912	0.23520	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	939.43	33	chr1	180183935	.	T	C	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.388;DP=415;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=0.983;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	9	0	1	0
chr1	180196583	180196583	C	T	exonic	QSOX1	.	nonsynonymous SNV	QSOX1:NM_001004128:exon12:c.C1790T:p.P597L,QSOX1:NM_002826:exon12:c.C1790T:p.P597L	.	428	1091	3	0	0	3	0.001373	.	.	.	706906	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00239617	0.0022	9.639e-05	0.0003	0	0	9.01e-05	0	0.0156	0.0018628	288	154602	rs145708234	0.0010	0.0010	0.0006	0.0014	0.0153	0.0010	0.0010	0.0147	0.0144	8.961e-05	6.708e-05	0	2.519e-05	0	0.0002	8.004e-05	0.0010	0.0153	0.0005	0.0005	0.0003	0.0008	0.0143	0.0004	0.0004	0.0116	0.0106	0.0001	0	0	0	0	0	0	7.351e-05	0.0005	0.0143	0.08	0.33585	T	0.3	0.51737	T	0.246	0.41767	B	0.008	0.28435	B	0.003987	0.34245	N	0.000000	1	0.08975	N	0.205	0.09354	N	3.71	0.04309	T	-2.3	0.51157	N	0.039	0.02272	-0.9305	0.44066	T	0.009	0.03140	T	10	0.0036527812	0.00067	T	.	.	.	0.031	0.07369	.	.	0.197625483188	0.19356	0.25758597401411304	0.25672	0.120610380543	0.13580	0.328654587269	0.14730	T	0.055205	0.29940	T	-0.634666	0.00090	T	-0.671456	0.07516	T	0.00684526511982748	0.00077	T	0.621038	0.23867	T	0.023696337	0.01131	0.031898208	0.01845	0.023696337	0.01131	0.031898208	0.01845	-4.099	0.25275	T	.	.	0.066	0.06159	B	.;.	.;.	0.666643	0.10352	7.079	0.47427196367465257	0.03877	0.05425	0.11298	N	AEFDBI	0.120464	0.23466	N	-0.86201127826857	0.11756	0.5690883	-0.94416556179527	0.11059	0.5610655	0.96431206505802	0.28751	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.47	1.33	0.20958	-0.391000	0.07383	-0.401000	0.09410	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1553:0.5948:0.1523:0.0977	4.248	0.10132	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2093.43	35	chr1	180196583	.	C	T	2093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=516;ExcessHet=0;FS=3.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.206;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	9	0	1	0
chr1	180928498	180928498	G	A	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon4:c.G1130A:p.R377H	.	8	1483	31	0	0	31	0.0103437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00478836373479	0.0047	0.00279553	0.0056	0.0010	0.0028	0.0002	0.0023	0.0072	0.0069	0.0078	0.0050776	785	154602	rs140222211	0.0055	0.0055	0.0052	0.0058	0.0128	0.0054	0.0053	0.0105	0.0096	0.0013	0.0029	0.0205	0.0001	0.0027	0.0128	0.0054	0.0060	0.0089	0.0041	0.0041	0.0041	0.0042	0.0077	0.0039	0.0037	0.0057	0.0050	0.0007	0.0219	0.0037	0.0202	0.0006	0.0026	0.0136	0.0053	0.0071	0.0077	0.093	0.31532	T	0.034	0.52727	D	0.007	0.14184	B	0.005	0.11217	B	0.180243	0.17122	N	0.498887	0.995655	0.42792	D	0.695	0.17993	N	1.96	0.22270	T	-2.42	0.53096	N	0.193	0.21188	-1.0493	0.14593	T	0.036	0.15465	T	9	0.005491942	0.00121	T	0.004788	0.11973	T	0.058	0.16647	.	.	0.0716867268079	0.06686	0.12543642818145254	0.12469	0.263862433895	0.28942	0.263838291168	0.05356	T	0.033932	0.23116	T	-0.553531	0.00278	T	-0.561205	0.16264	T	0.0225973046598565	0.00976	T	0.622938	0.26859	T	0.055256985	0.10713	0.07319048	0.15878	0.055256985	0.10712	0.07319048	0.15878	-9.619	0.71597	D	.	.	0.073	0.55876	B	.;.	.;.	2.295517	0.29365	18.10	0.99605620748217916	0.74456	0.68140	0.33690	D	AEFDBI	0.080954	0.16375	N	-0.210494210837487	0.32704	1.847188	-0.11038660286288	0.34971	2.018	0.999948513371837	0.47345	0.615465	0.37627	0	0.588066	0.40923	0	0.535252	0.11790	0	0.655142	0.61905	0	.	.	5.56	1.09	0.19517	2.464000	0.44724	0.088000	0.14478	-0.108000	0.15293	0.995000	0.38783	0.000000	0.08366	0.993000	0.69303	0.2886:0.0:0.7114:0.0	9.816	0.40021	865	0.32612	Domain of unknown function DUF4685;Domain of unknown function DUF4685	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011628	0.000000	0.014946	0.008824	0.000000	0.017241	0.015432	0.007576	0.05	1081.43	38	chr1	180928498	.	G	A	1081.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.486;DP=426;ExcessHet=0;FS=6.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.67;ReadPosRankSum=0.603;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr1	182057705	182057705	A	C	exonic	ZNF648	.	nonsynonymous SNV	ZNF648:NM_001009992:exon2:c.T306G:p.S102R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00245176380396	7.7e-05	0.000798722	9.06e-05	0.0007	0	0	0	0	0	0.0002	0.0001035	16	154602	rs140095619	4.515e-05	4.515e-05	2.178e-05	6.875e-05	0.0006	3.641e-05	3.321e-05	0.0005	0.0004	0.0003	0	0	0	0	0	8.993e-07	6.623e-05	0.0006	9.196e-05	9.187e-05	3.856e-05	0.0001	0.0006	5.526e-05	4.363e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0.0006	0.172	0.22660	T	0.088	0.40586	T	0.379	0.34321	B	0.11	0.31460	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.06	0.08634	T	-0.64	0.18670	N	0.089	0.06720	-0.9747	0.36191	T	0.010	0.03537	T	9	0.010532588	0.00234	T	0.002452	0.04840	T	0.054	0.15330	0.314	0.28935	0.0138822411134	0.00435	0.03901072413800416	0.03847	0.429269928717	0.43224	0.323713898659	0.13983	T	0.002405	0.01797	T	-0.4848	0.00694	T	-0.584727	0.14126	T	0.00989760253530709	0.00131	T	0.286771	0.05140	T	0.05471278	0.10536	0.07304595	0.15829	0.05471278	0.10536	0.07304595	0.15829	-4.378	0.29257	T	.	.	0.324	0.54825	B	.	.	-0.221965	0.02981	0.446	0.87498131771124077	0.17270	0.01589	0.05168	N	AEFDBI	0.047041	0.07877	N	-1.2691614206154	0.04052	0.1821667	-1.39441679327485	0.03311	0.1541964	0.802655573315418	0.24213	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.564101	0.26826	0	.	.	2.61	-1.58	0.08029	-1.300000	0.02859	-1.205000	0.06030	-0.740000	0.03671	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5352:0.0:0.4648:0.0	6.361	0.20630	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	5923.43	129	chr1	182057705	.	A	C	5923.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.09;DP=874;ExcessHet=0;FS=2.303;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.651;SOR=0.533	GT:AD:DP:GQ:PL	1/1:0,140:140:99:4581,420,0	8	1	1	0
chr1	182527656	182527656	T	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon11:c.T2009G:p.I670S,RGSL1:NM_001366934:exon12:c.T2114G:p.I705S	.	438	1074	10	0	0	10	0.00463392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0079	0.00658946	0.0040	0.0207	0.0024	0	0	0.0033	0	0.0001	0.0011449	177	154602	rs112168593	0.0013	0.0013	0.0014	0.0012	0.0242	0.0013	0.0012	0.0228	0.0222	0.0242	0.0031	0.0120	0	0	0.0214	0.0003	0.0033	0.0002	0.0074	0.0074	0.0079	0.0070	0.0232	0.0071	0.0069	0.0220	0.0215	0.0232	0	0.0040	0.0138	0	0	0.0306	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.015	0.00187	N	4.66	0.01756	T	1.36	0.00878	N	0.067	0.03956	.	.	.	.	.	.	.	0.002305597	0.00034	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.16437672724921135	0.16357	.	.	0.313681006432	0.12463	T	1.22E-4	0.00015	T	-0.681751	0.00047	T	-0.734479	0.04127	T	.	.	.	0.135986	0.01074	T	0.044344943	0.07074	0.059720792	0.11255	0.044344943	0.07073	0.059720792	0.11255	-2.989	0.10063	T	.	.	0.071	0.04002	B	.	.	-1.334697	0.00410	0.008	0.27816065459680284	0.01399	0.00167	0.00991	N	AEFBI	0.023133	0.01247	N	.	.	.	.	.	.	0.99797975429368	0.36262	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.36	-8.71	0.00734	-3.871000	0.00389	-3.290000	0.02902	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.439000	0.27649	0.2699:0.3354:0.1355:0.2593	1.035	0.01449	819	0.41190	RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025000	0.015957	0.051724	0.048673	0.083333	0.000000	0.000000	0.000000	0.05	566.43	34	chr1	182527656	.	T	G	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.147;DP=396;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.93;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	9	0	1	0
chr1	182527697	182527697	G	C	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon11:c.G2050C:p.E684Q,RGSL1:NM_001366934:exon12:c.G2155C:p.E719Q	.	.	.	.	.	.	.	.	.	.	.	3902625	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0578784616982	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0005	4.53e-05	7	154602	rs537460613	6.433e-05	6.156e-05	5.218e-05	7.681e-05	0.0004	5.323e-05	4.927e-05	0.0003	0.0002	3.168e-05	0.0002	0	0	2.028e-05	0.0004	3.894e-05	0.0001	0.0004	3.283e-05	3.281e-05	3.854e-05	2.686e-05	5.881e-05	1.26e-05	7.97e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0.0034	5.881e-05	0	0	0.041	0.41915	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.836105	0.28694	N	2.545	0.74286	M	4.6	0.01868	T	-1.4	0.34596	N	0.185	0.20129	.	.	.	.	.	.	.	0.124102056	0.23567	T	0.057878	0.67120	D	.	.	.	.	0.132336055621	0.12781	0.3523760115960924	0.35151	.	.	0.512946009636	0.40635	T	0.032036	0.22308	T	-0.367366	0.03730	T	-0.447399	0.27985	T	.	.	.	0.774523	0.40643	T	0.14054494	0.32422	0.14221832	0.33842	0.14054494	0.32422	0.14221832	0.33841	-6.269	0.48477	T	.	.	0.184	0.39915	B	.	.	3.015224	0.40338	21.1	0.99732525076318956	0.82904	0.75964	0.37223	D	AEFBHCI	0.198018	0.32490	N	.	.	.	.	.	.	0.208645547457632	0.18212	0.525926	0.21836	0	0.59043	0.45803	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	4.66	4.66	0.57857	3.174000	0.50548	7.313000	0.58133	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.029000	0.12982	0.0:0.0:1.0:0.0	13.220	0.59307	819	0.41190	RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1184.43	96	chr1	182527697	.	G	C	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.642;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.891;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1094:.	9	0	1	0
chr1	182530821	182530821	C	T	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.C2275T:p.H759Y,RGSL1:NM_001366934:exon14:c.C2380T:p.H794Y	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.000925	143	154602	rs144974547	0.0013	0.0012	0.0013	0.0012	0.0240	0.0012	0.0012	0.0225	0.0220	0.0240	0.0030	0.0120	0	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.95	0.22474	T	-0.86	0.23372	N	0.132	0.12770	.	.	.	.	.	.	.	0.004850656	0.00103	T	.	.	.	.	.	.	.	0.154104182512	0.14974	0.12006430632421262	0.11933	.	.	0.235803753138	0.02425	T	0.004882	0.04301	T	-0.681519	0.00047	T	-0.734146	0.04142	T	.	.	.	0.19598	0.02159	T	0.038350973	0.05092	0.0516819	0.08365	0.038350973	0.05092	0.0516819	0.08364	-3.663	0.18773	T	.	.	0.072	0.04356	B	.	.	-0.711441	0.01294	0.069	0.20450242423031911	0.00736	0.02532	0.07044	N	AEFGBI	0.030228	0.03004	N	.	.	.	.	.	.	1.04305301671019E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-2.39	0.06223	0.255000	0.18102	-0.308000	0.10061	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.1256:0.4565:0.1231:0.2948	2.042	0.03335	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023515	0.015957	0.032258	0.039823	0.166667	0.000000	0.000000	0.000000	0.05	1668.43	33	chr1	182530821	.	C	T	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.285;DP=383;ExcessHet=0;FS=3.055;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.39;ReadPosRankSum=-1.226;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1294:.	9	0	1	0
chr1	182530822	182530822	A	G	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon13:c.A2276G:p.H759R,RGSL1:NM_001366934:exon14:c.A2381G:p.H794R	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00658946	0.0038	0.0203	0.0024	0	0	0.0031	0	0.0001	0.0009379	145	154602	rs147958249	0.0013	0.0012	0.0013	0.0012	0.0239	0.0012	0.0012	0.0225	0.0219	0.0239	0.0030	0.0120	2.804e-05	0	0.0194	0.0003	0.0031	0.0002	0.0073	0.0073	0.0077	0.0068	0.0226	0.0069	0.0068	0.0214	0.0209	0.0226	0	0.0040	0.0138	0	0	0.0272	0.0005	0.0057	0.0008	0.664	0.04643	T	0.781	0.04316	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.955	0.01252	N	2.07	0.20387	T	1.04	0.01332	N	0.051	0.02272	.	.	.	.	.	.	.	0.0041003823	0.00081	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11975255764603225	0.11902	.	.	0.23224376142	0.02138	T	1.98E-4	0.00034	T	-0.780794	0.00011	T	-0.876747	0.00681	T	.	.	.	0.133387	0.01053	T	0.022936882	0.00993	0.02663198	0.00763	0.022936882	0.00993	0.02663198	0.00763	-3.896	0.22243	T	.	.	0.055	0.00412	B	.	.	-1.467085	0.00315	0.005	0.33398853155839092	0.01987	0.00148	0.00897	N	AEFGBI	0.014112	0.00213	N	.	.	.	.	.	.	0.00893469739416133	0.11767	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	-5.75	0.02190	-1.406000	0.02596	-2.018000	0.04337	-0.671000	0.04298	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2943:0.1926:0.2978:0.2152	0.432	0.00441	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025926	0.015957	0.032258	0.039823	0.166667	0.076923	0.000000	0.000000	0.05	1668.43	33	chr1	182530822	.	A	G	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.659;DP=383;ExcessHet=0;FS=3.055;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.39;ReadPosRankSum=-1.156;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1294:.	9	0	1	0
chr1	182551123	182551123	G	A	exonic	RGSL1	.	nonsynonymous SNV	RGSL1:NM_001137669:exon18:c.G2957A:p.R986H,RGSL1:NM_001366934:exon19:c.G3062A:p.R1021H	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0117285555729	0.0009	0.000399361	0.0014	0	0	0	0	0.0032	0	0.0004	0.0003169	49	154602	rs182399502	0.0006	0.0006	0.0005	0.0006	0.0165	0.0006	0.0005	0.0138	0.0128	0.0002	0.0011	0.0122	0	0	0.0165	0.0002	0.0014	0.0004	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0006	0.0005	4.811e-05	0	0.0010	0.0138	0	0	0.0272	0.0005	0.0019	0.0002	0.106	0.29688	T	0.008	0.67890	D	0.27	0.31762	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	1.85	0.24472	T	-1.19	0.30346	N	0.075	0.04913	.	.	.	.	.	.	.	0.0045185685	0.00093	T	0.011729	0.29644	T	.	.	.	.	0.0884992946249	0.08302	0.15745488202864302	0.15666	.	.	0.197746396065	0.00394	T	0.005563	0.05012	T	-0.55625	0.00267	T	-0.633785	0.10130	T	.	.	.	0.50295	0.15803	T	0.02917472	0.02370	0.038722366	0.03805	0.02917472	0.02370	0.038722366	0.03804	-1.357	0.01496	T	.	.	0.081	0.08129	B	.	.	0.014488	0.04385	1.132	0.90745433001771636	0.19995	0.01856	0.05735	N	AEFBHCI	0.014699	0.00246	N	.	.	.	.	.	.	3.1799352647016E-4	0.06498	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.68	-2.24	0.06518	-1.438000	0.02523	-1.338000	0.05679	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.5079:0.1629:0.3292:0.0	4.975	0.13484	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014223	0.005319	0.017857	0.029915	0.083333	0.000000	0.005208	0.000000	0.05	561.43	34	chr1	182551123	.	G	A	561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.827;DP=365;ExcessHet=0;FS=1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.699;SOR=0.515	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	9	0	1	0
chr1	182586523	182586523	G	C	exonic	RNASEL	.	nonsynonymous SNV	RNASEL:NM_021133:exon2:c.C284G:p.P95R	Prostate cancer 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	0.342998578618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.84e-07	1.364e-06	0	9.016e-07	0	0	.	.	0	0	0	0	0	0	9.016e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.64786	D	1.0	0.90584	D	0.993	0.81110	D	0.003497	0.34874	N	0.203043	0.667647	0.33112	D	4.005	0.96783	H	-1.32	0.79761	T	-4.4	0.77308	D	0.733	0.73465	0.998	0.97148	D	0.790	0.92882	D	10	0.95139503	0.94478	D	0.342999	0.92065	D	0.618	0.85144	0.67	0.80803	0.972984056117	0.97269	0.76312380272905	0.76260	0.359665792299	0.37662	0.447021961212	0.31538	T	0.368424	0.73332	T	0.363542	0.87523	D	0.284426	0.87362	D	0.993173778057098	0.83871	D	0.841716	0.52386	T	0.77518237	0.82360	0.4758885	0.69630	0.77518237	0.82361	0.4758885	0.69631	-11.566	0.83171	D	0.8040606930528791	0.88026	0.900	0.82734	P	.;.	.;.	3.839339	0.55545	23.6	0.99656563045104651	0.77631	0.80753	0.40311	D	AEFDGBHCI	0.269576	0.38582	N	0.682730410502987	0.78502	6.884396	0.493170244954708	0.67537	5.09724	0.999999999999999	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.71	4.71	0.59010	3.934000	0.56265	8.536000	0.77474	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.084:0.0:0.916:0.0	12.556	0.55602	814	0.42100	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1997.43	37	chr1	182586523	.	G	C	1997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.023;DP=491;ExcessHet=0;FS=3.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.956;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	9	0	1	0
chr1	182806516	182806516	G	A	exonic	NPL	.	nonsynonymous SNV	NPL:NM_001200050:exon3:c.G158A:p.R53H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0132737795624	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254260382	5.781e-06	5.472e-06	4.279e-06	7.322e-06	0.0002	2.49e-06	1.8e-06	7.4e-07	2.1e-07	0	2.801e-05	0	2.798e-05	0	0.0002	2.781e-06	1.726e-05	1.262e-05	1.314e-05	1.313e-05	0	2.69e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.019	0.50132	D	0.338	0.18125	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-1.77	0.83660	D	-0.97	0.25770	N	0.09	0.06854	-0.7074	0.60080	T	0.345	0.71052	T	9	0.122164816	0.23171	T	0.013274	0.32542	T	0.172	0.43662	0.668	0.80602	0.247872288689	0.24386	.	.	.	.	.	.	.	.	.	.	-0.270218	0.11732	T	-0.503382	0.21998	T	0.027473084891702	0.01612	T	0.39816	0.10064	T	.	.	.	.	.	.	.	.	-4.117	0.25540	T	.	.	0.109	0.20896	B	.	.	0.408088	0.07791	4.480	0.57817247662865101	0.05853	0.06800	0.12824	N	AEFDGBHCI	0.048270	0.08220	N	-1.10916631223774	0.06479	0.2983818	-1.17311538342287	0.06361	0.3059989	0.878503990320674	0.25567	0.495158	0.18159	0	0.61073	0.52368	0	0.535252	0.11790	0	0.564101	0.26826	0	.	.	3.87	-0.136	0.12815	0.144000	0.15956	1.200000	0.24830	-0.735000	0.03699	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.4592:0.0:0.5408:0.0	6.209	0.19831	406	0.82375	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1005.43	33	chr1	182806516	.	G	A	1005.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=421;ExcessHet=0;FS=1.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-1.158;SOR=0.869	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1385	9	0	1	0
chr1	183227547	183227547	A	G	exonic	LAMC2	.	nonsynonymous SNV	LAMC2:NM_005562:exon10:c.A1318G:p.I440V,LAMC2:NM_018891:exon10:c.A1318G:p.I440V	Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive	0	1491	31	0	0	31	0.0102887	.	.	.	267281	Junctional_epidermolysis_bullosa|not_provided	MONDO:MONDO:0017612,MedGen:C0079301,OMIM:PS226650,Orphanet:305|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00705583072782	0.0011	0.000599042	0.0015	9.61e-05	0.0025	0	0	0.0020	0.0022	0.0008	0.0013842	214	154602	rs147889360	0.0011	0.0011	0.0010	0.0011	0.0277	0.0010	0.0010	0.0242	0.0229	0.0008	0.0023	0.0167	0	0	0.0277	0.0006	0.0023	0.0009	0.0014	0.0014	0.0012	0.0015	0.0027	0.0012	0.0012	0.0021	0.0019	0.0002	0	0.0027	0.0181	0	0	0.0306	0.0011	0.0033	0.0012	0.89	0.02575	T	0.37	0.16473	T	0.002	0.45051	B	0.007	0.42549	B	0.018984	0.27357	N	0.342667	1	0.08975	N	1.04	0.26193	L	2.49	0.16351	T	0.07	0.06138	N	0.251	0.29889	-1.0117	0.26385	T	0.027	0.11751	T	10	0.004930675	0.00106	T	0.007056	0.18704	T	0.032	0.07718	.	.	0.181679512989	0.17746	0.3558394956187867	0.35497	0.0928677804986	0.10486	0.367219299078	0.20432	T	0.045062	0.27007	T	-0.628756	0.00097	T	-0.682108	0.06855	T	0.0260152463091466	0.01408	T	0.572443	0.20452	T	0.017570067	0.00283	0.022053603	0.00238	0.020624548	0.00627	0.021753127	0.00217	-2.714	0.07421	T	0.13715153916806236	0.15064	0.067	0.02609	B	.;.	.;.	0.861831	0.12343	8.882	0.62781003598174046	0.07051	0.22980	0.21926	N	AEFGBCI	0.349449	0.44323	N	-0.759392715148493	0.14379	0.7158105	-0.756529567948807	0.15562	0.8190704	0.999908789422852	0.45458	0.706298	0.61202	0	0.491513	0.07743	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.57	0.531	0.16303	0.570000	0.23357	0.438000	0.18395	-0.076000	0.16278	0.000000	0.06391	0.433000	0.24865	0.963000	0.52385	0.559:0.2425:0.1985:0.0	5.653	0.16903	498	0.76166	.;EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.018630	0.010101	0.024457	0.035088	0.100000	0.017241	0.000000	0.007576	0.05	1568.43	33	chr1	183227547	.	A	G	1568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.238;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=1.49;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr1	183261213	183261213	G	A	exonic	NMNAT2	.	nonsynonymous SNV	NMNAT2:NM_015039:exon9:c.C742T:p.R248C,NMNAT2:NM_170706:exon9:c.C727T:p.R243C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.15088338706	.	0.000199681	2.471e-05	0	0	0.0001	0	2.997e-05	0	0	2.59e-05	4	154602	rs200858529	5.473e-06	5.472e-06	6.807e-06	4.125e-06	2.236e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	0	2.236e-05	0	0	0	0	4.497e-06	1.656e-05	1.159e-05	3.284e-05	3.281e-05	5.141e-05	1.343e-05	0.0002	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.817e-05	0	6.539e-05	0	0.0002	0	0	1.47e-05	0	0	0.075	0.34444	T	0.171	0.30339	T	1.0	0.90584	D	0.901	0.64797	P	0.000086	0.51296	D	0.177231	1	0.81001	D	1.32	0.33002	L	-4.1	0.96659	D	-0.17	0.09627	N	0.683	0.68950	0.896	0.95618	D	0.880	0.96015	D	10	0.7279803	0.74103	D	0.150883	0.83251	D	0.707	0.89514	.	.	0.862042798329	0.86071	0.8050823545042699	0.80462	2.14347587928	0.95256	0.832240641117	0.86906	D	0.361692	0.72773	T	0.360735	0.87307	D	0.449523	0.93567	D	0.732622623443604	0.42346	D	0.973803	0.90577	D	0.10245937	0.24212	0.10648871	0.25619	0.10245937	0.24211	0.10648871	0.25619	-4.685	0.45204	T	0.11201058359650204	0.09644	0.417	0.64848	A	.;.	.;.	5.483810	0.91410	32	0.99637606093125253	0.76449	0.97511	0.75225	D	AEFGBI	0.936663	0.93331	D	0.633339582531517	0.75294	6.28068	0.672573379981626	0.80304	7.26873	0.999999999986703	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.611000	0.82163	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.173	0.93571	618	0.66225	.;Cytidyltransferase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	6171.43	34	chr1	183261213	.	G	A	6171.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.845;DP=588;ExcessHet=0;FS=1.614;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=59.94;MQRankSum=1.04;QD=20.57;ReadPosRankSum=2.05;SOR=0.812	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4185,399,0	8	1	1	0
chr1	183517785	183517785	C	G	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_001174061:exon3:c.C151G:p.L51V,SMG7:NM_001375584:exon4:c.C277G:p.L93V,SMG7:NM_001375585:exon4:c.C277G:p.L93V,SMG7:NM_173156:exon4:c.C277G:p.L93V,SMG7:NM_201568:exon4:c.C277G:p.L93V,SMG7:NM_201569:exon4:c.C277G:p.L93V,SMG7:NM_001331007:exon5:c.C364G:p.L122V,SMG7:NM_001350219:exon6:c.C364G:p.L122V,SMG7:NM_001350220:exon6:c.C364G:p.L122V,SMG7:NM_001350221:exon6:c.C364G:p.L122V	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0133058537852	.	.	.	.	.	.	.	.	.	.	.	.	.	rs531929654	4.789e-06	4.788e-06	6.806e-06	2.75e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.46910	D	0.134	0.51737	T	0.995	0.73220	D	0.906	0.67262	P	0.000027	0.55875	D	0.073855	0.999993	0.58761	D	1.355	0.33814	L	2.26	0.17596	T	-1.31	0.32791	N	0.668	0.67650	-1.1466	0.01130	T	0.067	0.27674	T	10	0.38624603	0.54561	T	0.013306	0.32613	T	0.166	0.42578	0.448	0.50793	0.427607127396	0.42382	0.30252169950099006	0.30165	1.90504244173	0.92856	0.84842389822	0.89376	D	0.035275	0.23656	T	-0.0697234	0.41370	T	-0.255064	0.49316	T	0.730861627075149	0.42254	D	0.968903	0.88767	D	0.3464411	0.56788	0.31846565	0.57814	0.3464411	0.56788	0.31846565	0.57813	-7.704	0.62445	D	.	.	0.701	0.80855	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.315877	0.45584	22.2	0.99795971829125873	0.88106	0.96891	0.71503	D	AEFGBI	0.574051	0.57699	D	0.508050359258633	0.67563	5.098591	0.545340601495162	0.71074	5.599762	0.999999998485689	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	3.759000	0.54939	1.790000	0.28791	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9256:0.0:0.0744	13.539	0.61123	371	0.84287	Telomerase activating protein Est1;Telomerase activating protein Est1;.;Telomerase activating protein Est1;Telomerase activating protein Est1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	786.43	44	chr1	183517785	.	C	G	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.061;DP=417;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-1.577;SOR=0.892	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr1	183542209	183542209	G	A	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_001174061:exon13:c.G1423A:p.A475T,SMG7:NM_001350222:exon14:c.G544A:p.A182T,SMG7:NM_001375584:exon14:c.G1549A:p.A517T,SMG7:NM_001375585:exon14:c.G1549A:p.A517T,SMG7:NM_173156:exon14:c.G1549A:p.A517T,SMG7:NM_201568:exon14:c.G1549A:p.A517T,SMG7:NM_201569:exon14:c.G1549A:p.A517T,SMG7:NM_001331007:exon15:c.G1636A:p.A546T,SMG7:NM_001350219:exon16:c.G1636A:p.A546T,SMG7:NM_001350220:exon16:c.G1636A:p.A546T,SMG7:NM_001350221:exon16:c.G1636A:p.A546T	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00243736764433	.	.	4.127e-05	0	0	0.0002	0	4.505e-05	0	0	3.23e-05	5	154602	rs762238851	2.052e-05	2.052e-05	2.178e-05	1.925e-05	0.0002	1.456e-05	1.264e-05	2.194e-05	1.43e-05	0	0	0	7.558e-05	0	0.0002	1.709e-05	3.311e-05	5.797e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.413	0.13699	T	1.0	0.07568	T	0.0	0.02946	B	0.0	0.01387	B	0.561311	0.11333	N	0.828915	1	0.08975	N	-0.345	0.03330	N	2.25	0.22678	T	0.23	0.11185	N	0.043	0.02462	-0.9496	0.41040	T	0.022	0.09559	T	10	0.026864976	0.00844	T	0.002437	0.04813	T	0.076	0.22200	0.164	0.06842	0.258436476835	0.25460	0.12941891495100005	0.12866	0.129818777364	0.14634	0.250475764275	0.03818	T	0.010948	0.09827	T	-0.493049	0.00626	T	-0.645684	0.09260	T	0.00566275116164346	0.00062	T	0.79972	0.44511	T	0.020865012	0.00661	0.0334215	0.02234	0.020865012	0.00661	0.0334215	0.02234	-3.563	0.17871	T	.	.	0.062	0.02639	B	.;.;.;.;.;.	.;.;.;.;.;.	0.838812	0.12104	8.656	0.86540434697327595	0.16605	0.06901	0.12927	N	AEFBI	0.047227	0.07929	N	-0.984698222213357	0.08929	0.4206251	-0.924479713625084	0.11517	0.587208	0.0567898707025779	0.15068	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	0.237	0.14737	0.559000	0.23190	0.812000	0.21762	0.676000	0.76740	0.000000	0.06391	0.116000	0.22850	0.994000	0.71098	0.3348:0.0:0.5477:0.1175	5.898	0.18190	470	0.78111	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	905.43	35	chr1	183542209	.	G	A	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.07;DP=378;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-1.226;SOR=0.544	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1073	9	0	1	0
chr1	183560204	183560204	G	A	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon12:c.C1117T:p.P373S,NCF2:NM_001190794:exon13:c.C1225T:p.P409S,NCF2:NM_000433:exon14:c.C1360T:p.P454S,NCF2:NM_001127651:exon15:c.C1360T:p.P454S	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	0	1503	19	0	0	19	0.00628099	.	.	.	277863	NCF2-related_disorder|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_provided|not_specified	.|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	0.0159593375027	0.0055	0.00279553	0.0041	0.0008	0.0025	0.0002	0.0015	0.0064	0.0033	0.0014	0.0041849	647	154602	rs55761650	0.0063	0.0063	0.0064	0.0062	0.0072	0.0062	0.0061	0.0071	0.0070	0.0013	0.0038	0.0134	0	0.0007	0.0043	0.0072	0.0050	0.0027	0.0047	0.0047	0.0053	0.0041	0.0080	0.0044	0.0043	0.0069	0.0065	0.0015	0	0.0080	0.0110	0	0.0008	0.0034	0.0069	0.0062	0.0008	0.074	0.34621	T	0.086	0.44106	T	0.0	0.02946	B	0.002	0.06944	B	0.206604	0.16467	N	0.613191	1	0.08975	N	1.63	0.41750	L	-0.26	0.72889	T	-3.11	0.66085	D	0.071	0.04426	-0.9551	0.40078	T	0.147	0.47273	T	10	0.004563093	0.00095	T	0.015959	0.36975	T	0.062	0.17934	.	.	0.577929125939	0.57463	0.29821815483396497	0.29734	0.314777063784	0.33761	0.227331131697	0.01776	T	0.217469	0.57992	T	-0.564468	0.00239	T	-0.576347	0.14873	T	0.00492563233238766	0.00053	T	0.60024	0.22396	T	0.044414025	0.07097	0.0753414	0.16576	0.038439013	0.05121	0.070945755	0.15133	-3.315	0.14206	T	.	.	0.088	0.11606	B	.;.;.;.	.;.;.;.	0.527912	0.08965	5.748	0.3903328044334749	0.02669	0.07324	0.13345	N	AEFDBI	0.080614	0.16302	N	-1.17525485910975	0.05376	0.2449235	-1.19744153529468	0.05952	0.2851081	0.0723612784615346	0.15599	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	5.18	1.17	0.19998	-0.031000	0.12237	0.152000	0.15303	-1.703000	0.00755	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0723:0.3818:0.4147:0.1312	5.875	0.18074	730	0.54327	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1345.43	90	chr1	183560204	.	G	A	1345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=398;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=2.36;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	9	0	1	0
chr1	183563229	183563229	T	A	exonic	NCF2	.	nonsynonymous SNV	NCF2:NM_001190789:exon11:c.A1013T:p.N338I,NCF2:NM_001190794:exon12:c.A1121T:p.N374I,NCF2:NM_000433:exon13:c.A1256T:p.N419I,NCF2:NM_001127651:exon14:c.A1256T:p.N419I	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	265448	Developmental_and_epileptic_encephalopathy,_28|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2|not_specified|not_provided	MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211,Orphanet:442835|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.280	.	0.0065	0.00419329	0.0054	0.0012	0.0041	0.0001	0.0015	0.0059	0.0055	0.0110	0.0055562	859	154602	rs35012521	0.0082	0.0082	0.0082	0.0082	0.0106	0.0081	0.0080	0.0101	0.0098	0.0010	0.0045	0.0057	2.519e-05	0.0016	0.0094	0.0090	0.0095	0.0106	0.0054	0.0054	0.0057	0.0050	0.0097	0.0051	0.0049	0.0079	0.0077	0.0017	0	0.0045	0.0061	0	0.0010	0.0136	0.0085	0.0076	0.0097	0.003	0.68238	D	0.003	0.76473	D	0.987	0.61912	D	0.942	0.67772	D	0.000092	0.51296	D	0.203036	0.521606	0.31901	D	2.725	0.79712	M	0.78	0.49358	T	-4.32	0.78636	D	0.463	0.50418	-0.7436	0.58267	T	0.198	0.55329	T	10	0.0100801885	0.00226	T	.	.	.	0.280	0.59740	.	.	0.696356426285	0.69374	0.4952431128784428	0.49445	0.798378576579	0.66127	0.477975904942	0.35778	T	0.244942	0.61416	T	-0.410573	0.01970	T	-0.351505	0.39032	T	0.0335921999053578	0.02569	T	0.89911	0.65732	D	0.8869816	0.90250	0.73654705	0.84429	0.92818314	0.94056	0.76936954	0.86382	-8.453	0.69701	D	0.5583680511695567	0.62632	0.516	0.65319	A	.;.;.;.	.;.;.;.	4.079810	0.60676	24.2	0.99299000505735635	0.58541	0.86709	0.46048	D	AEFDBCI	0.325078	0.42677	N	0.489766814090699	0.66488	4.956959	0.450411146364601	0.64743	4.736657	0.999910455796851	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	5.58	4.46	0.53567	2.628000	0.46143	3.388000	0.38048	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0765:0.0:0.9235	9.980	0.40982	730	0.54327	.;.;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain;PB1 domain|PB1 domain|PB1 domain|Neutrophil cytosol factor 2, PB1 domain	NCF2	Artery_Tibial	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	5447.43	33	chr1	183563229	.	T	A	5447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.549;DP=799;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.196;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1427	9	0	1	0
chr1	183945547	183945547	T	A	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon9:c.A1154T:p.Q385L,COLGALT2:NM_001303421:exon9:c.A794T:p.Q265L,COLGALT2:NM_015101:exon9:c.A1154T:p.Q385L	.	425	1081	15	1	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	.	0.0082	0.00299521	0.0071	0.0020	0.0011	0	0.0064	0.0100	0.0066	0.0070	0.0071797	1110	154602	rs61743924	0.0087	0.0087	0.0088	0.0087	0.0097	0.0086	0.0085	0.0096	0.0095	0.0019	0.0027	0.0158	0	0.0053	0.0092	0.0097	0.0078	0.0063	0.0060	0.0060	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0088	0.0016	0.0011	0.0037	0.0141	0	0.0041	0.0034	0.0096	0.0028	0.0056	0.298	0.14595	T	0.32	0.21745	T	0.986	0.61523	D	0.911	0.64720	D	0.000001	0.62929	D	0.058048	1	0.81001	D	2.35	0.67516	M	-1.13	0.77719	T	-2.95	0.61580	D	0.722	0.72388	0.054	0.83321	D	0.523	0.82206	D	10	0.013658196	0.00289	T	.	.	.	0.568	0.82403	.	.	0.87180093641	0.87055	0.7611849925579952	0.76066	0.894154381821	0.70357	0.65886080265	0.61246	T	0.169104	0.51635	T	-0.239552	0.15406	T	-0.108915	0.62698	T	0.0131000466423841	0.00230	T	0.762324	0.38756	T	0.42127702	0.62177	0.31137094	0.57144	0.42127702	0.62177	0.31137094	0.57143	-8.856	0.66765	D	.	.	0.235	0.47816	B	.;.;.	.;.;.	4.768201	0.77163	26.6	0.97849541934932605	0.36385	0.96860	0.71332	D	ALL	0.952676	0.96834	D	0.535619244291497	0.69212	5.324943	0.562359853788514	0.72263	5.782045	1.0	0.98316	0.685219	0.55550	0	0.547309	0.14657	0	0.674405	0.61402	0	0.663205	0.64265	0	.	.	5.39	5.39	0.77615	7.702000	0.83553	7.869000	0.71860	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	15.398	0.74533	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.005435	0.032164	0.000000	0.017241	0.003049	0.015152	0.05	1069.43	35	chr1	183945547	.	T	A	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.509;DP=409;ExcessHet=0;FS=0.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.027;SOR=0.878	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	9	0	1	0
chr1	184037164	184037164	G	A	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon1:c.C194T:p.A65V,COLGALT2:NM_015101:exon1:c.C194T:p.A65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.875021753849	.	.	2.138e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs747085306	6.89e-06	1.368e-05	4.114e-06	9.695e-06	0.0001	3.48e-06	2.54e-06	6.302e-05	4.798e-05	0	0	0	0	0	0	0	0	0.0001	6.58e-06	6.567e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.032	0.53426	D	0.953	0.54283	P	0.542	0.48916	P	0.000224	0.47286	D	0.138037	1	0.81001	D	3.15	0.88382	M	0.05	0.61923	T	-2.53	0.54864	D	0.375	0.41656	-0.2396	0.76636	T	0.314	0.68389	T	10	0.48325858	0.60557	T	0.875022	0.99046	D	0.280	0.59740	0.425	0.47021	0.782224416147	0.78021	0.7397868706571837	0.73923	0.414142546602	0.42099	0.741655290127	0.73216	T	0.184993	0.53782	T	0.0221782	0.54675	T	-0.205919	0.54084	T	0.899581372737885	0.55192	D	0.834817	0.50404	T	0.26138696	0.49197	0.41270348	0.65466	0.26138696	0.49197	0.41270348	0.65466	-10.761	0.78331	D	.	.	0.457	0.63124	A	.;.	.;.	4.308849	0.65846	24.9	0.99913407229999884	0.98238	0.87465	0.47013	D	ALL	0.650029	0.62428	D	0.357692370109787	0.59147	4.091749	0.288195217931006	0.54848	3.648816	0.999999999999999	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.603991	0.37454	0	.	.	3.81	2.8	0.31881	2.509000	0.45120	9.266000	0.79598	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.356000	0.25796	0.0:0.1759:0.8241:0.0	11.989	0.52454	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1469.43	35	chr1	184037164	.	G	A	1469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=416;ExcessHet=0;FS=2.484;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.195;SOR=0.548	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	9	0	1	0
chr1	184037246	184037246	C	T	exonic	COLGALT2	.	nonsynonymous SNV	COLGALT2:NM_001303420:exon1:c.G112A:p.D38N,COLGALT2:NM_015101:exon1:c.G112A:p.D38N	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0027	0.00479233	0.0120	0.0014	0.0094	0	0.0453	0.0126	0.0099	0.0138	0.0052651	814	154602	rs150084895	0.0051	0.0052	0.0048	0.0054	0.0216	0.0050	0.0050	0.0183	0.0171	0.0007	0.0043	0.0024	2.619e-05	0.0248	0.0216	0.0041	0.0054	0.0112	0.0058	0.0059	0.0051	0.0066	0.0118	0.0055	0.0054	0.0093	0.0085	0.0007	0.0077	0.0035	0.0023	0	0.0232	0.0068	0.0070	0.0062	0.0118	0.165	0.23271	T	0.203	0.27325	T	0.355	0.33731	B	0.017	0.18140	B	0.128417	0.18732	U	0.382523	1	0.08975	N	0	0.06538	N	-1.09	0.77206	T	-0.17	0.09627	N	0.205	0.22742	-0.9687	0.37468	T	0.134	0.44739	T	10	0.0023701787	0.00035	T	.	.	.	0.159	0.41286	.	.	0.750438010542	0.74818	0.3154112362772674	0.31454	0.307476924182	0.33042	0.718976080418	0.69897	T	0.011471	0.10227	T	-0.506178	0.00528	T	-0.48819	0.23581	T	0.0196489811530059	0.00668	T	0.593441	0.21910	T	0.13396578	0.31141	0.07665079	0.16999	0.13396578	0.31141	0.07665079	0.16998	-6.201	0.47931	T	.	.	0.079	0.07507	B	.;.	.;.	2.040364	0.25936	16.94	0.99615728071122844	0.75112	0.27546	0.23308	N	ALL	0.167023	0.29366	N	-0.624906000972439	0.18199	0.9428884	-0.578540715158823	0.20054	1.078686	0.999999999999989	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	3.84	3.84	0.43422	0.629000	0.24229	3.634000	0.39325	0.499000	0.22661	0.113000	0.23048	0.813000	0.27056	0.926000	0.46234	0.0:1.0:0.0:0.0	11.624	0.50390	827	0.39843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022358	0.010526	0.016304	0.040936	0.150000	0.034483	0.012346	0.015267	0.05	893.43	35	chr1	184037246	.	C	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.207;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.33;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	9	0	1	0
chr1	184712590	184712590	G	A	exonic	EDEM3	.	nonsynonymous SNV	EDEM3:NM_001319960:exon14:c.C1379T:p.S460F,EDEM3:NM_025191:exon14:c.C1379T:p.S460F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	0.168391100123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.97	0.99843	H	-1.86	0.84341	D	-5.7	0.87380	D	0.981	0.99260	0.959	0.96532	D	0.867	0.95563	D	10	0.9669199	0.96194	D	0.168391	0.84650	D	0.920	0.97965	0.874	0.96529	0.973843046719	0.97356	0.957737645433485	0.95758	0.695745689123	0.60824	0.817488431931	0.84643	D	0.784915	0.94356	D	0.478511	0.93648	D	0.449571	0.93568	D	0.999863743782043	0.99418	D	0.99736	0.98941	D	0.8988952	0.91285	0.89883214	0.94893	0.8988952	0.91286	0.89883214	0.94893	-13.136	0.90486	D	.	.	1.000	0.99585	P	.;.	.;.	5.583706	0.92323	32	0.9978542467290914	0.87131	0.99570	0.97553	D	AEFBI	0.886208	0.81740	D	1.15754019235889	0.99064	20.504	1.08134954742691	0.99673	25.08468	0.999999999992661	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	9.784000	0.98199	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.354	0.98826	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	33.46	36	chr1	184712590	.	G	A	33.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.611;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=-0.0549;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-1.793;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,266:.	9	0	1	0
chr1	184754587	184754587	T	G	exonic	EDEM3	.	nonsynonymous SNV	EDEM3:NM_001319960:exon1:c.A60C:p.R20S,EDEM3:NM_025191:exon1:c.A60C:p.R20S	.	429	1044	48	1	0	50	0.0233863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	.	0.0119808	0.0072	0.0013	0.0020	0.0414	0.0005	0.0026	0.0076	0.0151	0.0052781	816	154602	rs193034365	0.0030	0.0030	0.0027	0.0033	0.0248	0.0029	0.0029	0.0235	0.0230	0.0005	0.0011	0.0068	0.0248	7.626e-05	0.0128	0.0014	0.0058	0.0135	0.0028	0.0028	0.0029	0.0028	0.0357	0.0026	0.0025	0.0315	0.0299	0.0005	0	0.0016	0.0069	0.0357	0.0002	0.0034	0.0016	0.0052	0.0110	0.987	0.01979	T	0.745	0.04895	T	0.0	0.02946	B	0.0	0.01387	B	0.139084	0.18355	N	0.501789	0.999987	0.18198	N	0	0.06538	N	-0.61	0.71779	T	0.53	0.02808	N	0.111	0.09772	-1.0611	0.11483	T	0.042	0.18076	T	10	0.007667631	0.00174	T	.	.	.	0.094	0.27141	0.619	0.75347	0.5688587536	0.56550	0.2612104138876145	0.26034	0.174374383467	0.19631	0.731880187988	0.71781	T	0.019733	0.15664	T	-0.374854	0.03356	T	-0.279093	0.46896	T	0.039269934940123	0.03559	T	0.305069	0.05837	T	0.09925845	0.23422	0.115757614	0.27944	0.1345001	0.31247	0.115757614	0.27943	-4.335	0.28664	T	.	.	0.104	0.19032	B	.	.	2.720633	0.35583	19.94	0.80142828398531007	0.13064	0.00895	0.03516	N	ALL	.	.	.	-0.544015440680604	0.20671	1.091455	-0.319936607149643	0.27455	1.52358	0.999999999999222	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	4.76	4.76	0.60189	1.851000	0.38978	8.248000	0.76859	-0.128000	0.13240	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8045:0.1955	10.384	0.43312	583	0.69484	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014721	0.005208	0.021739	0.008772	0.000000	0.017241	0.012500	0.015267	0.1	2290.14	36	chr1	184754587	.	T	G	2290.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=511;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.21;SOR=0.713	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	8	0	2	0
chr1	184796035	184796035	T	C	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon14:c.A1729G:p.S577G	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00639504073135	0.0006	0.00119808	0.0009	0.0001	8.737e-05	0.0001	0	0.0007	0	0.0038	0.0007956	123	154602	rs147077078	0.0007	0.0007	0.0006	0.0008	0.0044	0.0007	0.0007	0.0032	0.0031	0.0001	0.0002	0.0011	2.527e-05	0	0.0044	0.0006	0.0006	0.0035	0.0006	0.0006	0.0005	0.0007	0.0048	0.0005	0.0004	0.0033	0.0028	0.0001	0	0.0008	0.0009	0	0	0	0.0006	0.0009	0.0048	0.068	0.35726	T	0.405	0.14771	T	0.976	0.58310	D	0.722	0.54942	P	0.002063	0.37317	N	0.341183	0.965931	0.25916	N	2.455	0.71248	M	2.81	0.10975	T	-1.57	0.37955	N	0.115	0.10340	-1.0710	0.09194	T	0.034	0.14683	T	10	0.008102179	0.00184	T	0.006395	0.16812	T	0.038	0.09825	.	.	0.510346895759	0.50673	0.14786637238149633	0.14708	0.293368524652	0.31762	0.368733018637	0.20650	T	0.186228	0.53945	T	-0.516746	0.00459	T	-0.515884	0.20713	T	0.104098024210432	0.12802	T	0.813219	0.46599	T	0.10479992	0.24775	0.100401625	0.24005	0.10479992	0.24775	0.100401625	0.24004	-5.582	0.42628	T	.	.	0.128	0.27161	B	.	.	3.535201	0.49623	22.8	0.99735428138570292	0.83119	0.73901	0.36147	D	AEFBI	0.265207	0.38238	N	0.392479718248568	0.61014	4.297012	0.433526379079357	0.63668	4.604964	0.81400020173335	0.24406	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.81	4.65	0.57626	3.588000	0.53712	3.540000	0.38999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.301:0.0:0.0:0.699	8.241	0.30820	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.017241	0.000000	0.007576	0.05	974.43	38	chr1	184796035	.	T	C	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=424;ExcessHet=0;FS=2.829;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.029;SOR=1.04	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr1	184890177	184890177	C	T	exonic	NIBAN1	.	nonsynonymous SNV	NIBAN1:NM_052966:exon4:c.G364A:p.G122S	.	.	.	.	.	.	.	.	.	.	.	4028025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0111832653004	.	0.000199681	1.649e-05	0	0	0	0	2.999e-05	0	0	3.84e-05	1	26028	rs140860927	9.578e-06	9.577e-06	6.807e-06	1.238e-05	2.52e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	2.52e-05	0	0	1.079e-05	1.656e-05	0	6.57e-06	6.563e-06	0	1.344e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.051573	0.996815	0.43435	D	2.195	0.61839	M	2.18	0.18875	T	-5.11	0.83092	D	0.503	0.53532	-0.9826	0.34398	T	0.128	0.43503	T	10	0.45949322	0.59197	T	0.011183	0.28538	T	0.242	0.54781	.	.	0.517322629239	0.51374	0.6754559100639078	0.67483	0.277069587991	0.30180	0.414116442204	0.27026	T	0.546087	0.84545	D	-0.0932565	0.37539	T	-0.356247	0.38488	T	0.993838727474213	0.84805	D	0.791221	0.43226	T	0.7994946	0.83873	0.60982585	0.77306	0.7994946	0.83875	0.60982585	0.77307	-9.071	0.68152	D	.	.	0.150	0.33249	B	.	.	3.456876	0.48158	22.6	0.99672432626277019	0.78652	0.43020	0.27006	N	AEFDBHCI	0.101007	0.20297	N	0.12730944179081	0.47738	2.995484	-0.0030918943948027	0.39576	2.348643	0.999999851621039	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.71	3.85	0.43556	1.882000	0.39283	2.249000	0.31673	-0.182000	0.10109	0.754000	0.29177	0.831000	0.27213	0.067000	0.16453	0.0:0.8287:0.0:0.1713	8.869	0.34461	713	0.56348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1269.43	122	chr1	184890177	.	C	T	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=435;ExcessHet=0;FS=2.42;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.567;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1152	9	0	1	0
chr1	185181964	185181964	C	T	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon7:c.C1045T:p.L349F,SWT1:NM_017673:exon7:c.C1045T:p.L349F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0128921527203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000002	0.62929	D	0.000000	0.899744	0.36143	D	2.28	0.64929	M	1.28	0.35960	T	-2.19	0.49352	N	0.497	0.53620	-0.8454	0.52284	T	0.141	0.46183	T	10	0.36653662	0.53146	T	0.012892	0.31852	T	0.139	0.37390	0.3	0.26683	0.579890812634	0.57659	0.4388643738463488	0.43803	0.64846266349	0.58195	0.668325304985	0.62599	T	0.139142	0.47301	T	-0.0472299	0.44868	T	-0.305619	0.44127	T	0.954114615917206	0.64187	D	0.914109	0.69400	D	0.28956687	0.51952	0.24229378	0.49646	0.28956687	0.51952	0.24229378	0.49645	-10.017	0.74014	D	.	.	0.703	0.73078	P	.;.	.;.	4.859298	0.79503	27.1	0.99906513698964627	0.97726	0.68216	0.33718	D	AEFI	0.117897	0.23076	N	0.552752994831467	0.70252	5.474019	0.585626947852786	0.73907	6.048133	0.0846083622799005	0.15960	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.71	5.71	0.89031	2.082000	0.41230	7.699000	0.66186	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9131:0.0:0.0869	11.765	0.51193	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	54.73	43	chr1	185181964	.	C	T	54.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.788;DP=772;ExcessHet=0;FS=101.62;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.14;SOR=6.932	GT:AD:DP:GQ:PL	0/1:70,31:101:65:65,0,883	7	0	1	2
chr1	185206667	185206667	C	G	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon13:c.C1876G:p.Q626E,SWT1:NM_017673:exon13:c.C1876G:p.Q626E	.	441	1079	1	1	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	.	0.00279553	0.0023	0	8.721e-05	0.0001	0	0	0.0011	0.0164	0.0019146	296	154602	rs574089489	0.0009	0.0010	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	6.005e-05	4.557e-05	0	2.534e-05	0	0.0003	3.608e-06	0.0014	0.0149	0.0004	0.0004	0.0002	0.0007	0.0139	0.0004	0.0003	0.0112	0.0102	0	0	0	0	0	0	0	0	0	0.0139	0.042	0.41637	D	0.022	0.57587	D	0.622	0.39964	P	0.183	0.35961	B	0.002602	0.36243	N	0.306169	0.682345	0.30267	N	2.205	0.62170	M	2.15	0.19311	T	-1.19	0.30346	N	0.214	0.24135	-1.0751	0.08328	T	0.044	0.18906	T	10	0.010387689	0.00231	T	.	.	.	0.060	0.17295	0.376	0.38994	0.381239546501	0.37731	0.322739464724848	0.32186	0.31532874122	0.33813	0.375013560057	0.21548	T	0.009948	0.09021	T	-0.536187	0.00353	T	-0.530648	0.19221	T	0.0279037426539749	0.01674	T	0.821518	0.48098	T	0.14677517	0.33583	0.1709339	0.39238	0.14677517	0.33583	0.1709339	0.39238	-8.655	0.65451	D	.	.	0.078	0.08224	B	.;.	.;.	2.732463	0.35768	19.98	0.98472776252036032	0.41873	0.81486	0.40880	D	AEFI	0.143060	0.26566	N	0.178793342352826	0.50180	3.210668	0.284518740532891	0.54636	3.627942	4.34003300652479E-5	0.03989	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.69	4.72	0.59248	2.048000	0.40903	4.832000	0.45208	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1508:0.7033:0.1459:0.0	10.214	0.42335	486	0.77016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	786.43	33	chr1	185206667	.	C	G	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.719;DP=397;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.688;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,986	9	0	1	0
chr1	185231614	185231614	C	G	exonic	SWT1	.	nonsynonymous SNV	SWT1:NM_001105518:exon16:c.C2347G:p.L783V,SWT1:NM_017673:exon16:c.C2347G:p.L783V	.	.	.	.	.	.	.	.	.	.	.	2344987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00757637566244	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs573799309	2.605e-05	2.599e-05	9.554e-06	4.271e-05	0.0004	1.937e-05	1.696e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.319e-05	0.0004	1.971e-05	1.969e-05	1.285e-05	2.688e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.126	0.27194	T	0.307	0.19908	T	0.044	0.21686	B	0.036	0.22909	B	0.053689	0.22787	N	0.401453	1	0.08975	N	2.25	0.63811	M	0.82	0.48142	T	-0.37	0.13226	N	0.128	0.12198	-1.0159	0.25045	T	0.060	0.25273	T	10	0.01318413	0.00280	T	0.007576	0.20113	T	0.023	0.04649	0.19	0.10039	0.156986980423	0.15292	0.0940656811692093	0.09338	0.226712902874	0.25215	0.293456584215	0.09429	T	4.53E-4	0.00158	T	-0.488549	0.00662	T	-0.57538	0.14961	T	0.0526158662287077	0.05953	T	0.637136	0.25071	T	0.043404773	0.06758	0.037973415	0.03565	0.043404773	0.06758	0.037973415	0.03565	-3.48	0.16153	T	.	.	0.076	0.05979	B	.;.	.;.	0.855337	0.12277	8.818	0.9755835948397299	0.34610	0.09119	0.14938	N	AEFI	0.067866	0.13362	N	-0.985166158336329	0.08920	0.4201154	-0.946208655074757	0.11011	0.5583406	1.28994866405069E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.27	1.86	0.24489	0.644000	0.24455	0.078000	0.14353	0.549000	0.26987	0.000000	0.06391	0.006000	0.19429	0.905000	0.44082	0.3026:0.5122:0.0:0.1852	4.651	0.11979	499	0.76092	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	541.43	34	chr1	185231614	.	C	G	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.32;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	9	0	1	0
chr1	186326198	186326200	TCA	-	exonic	TPR	.	nonframeshift deletion	TPR:NM_003292:exon41:c.5925_5927del:p.D1975del	.	421	1093	6	0	2	8	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0001	0	8.237e-05	0	0.0005	0.0001294	20	154602	rs748538527	8.108e-05	0.0002	6.566e-05	9.665e-05	0.0006	6.899e-05	6.449e-05	0.0005	0.0005	3.003e-05	8.975e-05	0	0.0002	3.758e-05	0	3.796e-05	0.0001	0.0006	4.601e-05	4.597e-05	3.856e-05	5.382e-05	9.653e-05	2.11e-05	1.527e-05	3.249e-05	1.915e-05	9.653e-05	0	6.55e-05	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010428	0.005051	0.008242	0.003497	0.000000	0.017241	0.018405	0.003788	0.05	3506.39	33	chr1	186326197	.	TTCA	T	3506.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.741;DP=506;ExcessHet=0;FS=6.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21;ReadPosRankSum=0.619;SOR=0.369	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,103,1422	9	0	1	0
chr1	186361636	186361636	T	C	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon9:c.A944G:p.K315R	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0129705457223	0.0002	0.000199681	0.0003	0	8.694e-05	0	0	0.0005	0	6.061e-05	0.0002717	42	154602	rs201760745	0.0002	0.0002	0.0002	0.0002	0.0050	0.0002	0.0002	0.0036	0.0031	0.0002	0.0003	0.0008	0	0	0.0050	0.0002	0.0004	6.958e-05	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	7.218e-05	0	0.0002	0.0012	0	0	0.0136	0.0004	0.0009	0.0002	0.005	0.63226	D	0.103	0.38305	T	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.994283	0.42226	D	2.31	0.66127	M	1.84	0.24656	T	-1.36	0.33798	N	0.413	0.45331	-0.9619	0.38819	T	0.140	0.45997	T	10	0.08402017	0.14037	T	0.012971	0.31999	T	0.108	0.30607	.	.	0.347992687056	0.34409	0.21511907827271456	0.21427	0.390654298422	0.40278	0.565954089165	0.48107	T	0.014872	0.12581	T	-0.331435	0.06003	T	-0.39385	0.34102	T	0.0782571954790995	0.09762	T	0.939806	0.77272	D	0.27141312	0.50212	0.28266716	0.54256	0.27141312	0.50212	0.28266716	0.54255	-4.675	0.33100	T	.	.	0.097	0.15743	B	.;.	.;.	4.775611	0.77358	26.7	0.99909832737459359	0.97949	0.97568	0.75603	D	AEFDBI	0.719858	0.67061	D	0.628938096098364	0.75013	6.231351	0.634984745119435	0.77499	6.690743	0.999947803567212	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	7.616000	0.82218	7.823000	0.69822	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.773	0.69312	305	0.87738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	1285.43	37	chr1	186361636	.	T	C	1285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.117;DP=474;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.39;SOR=0.502	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr1	186367896	186367896	T	A	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon4:c.A417T:p.E139D	.	441	1077	4	0	0	4	0.00185357	.	.	.	3886676	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0024	0.00359425	0.0039	0.0004	0.0019	0	0.0009	0.0030	0.0070	0.0138	0.0035769	553	154602	rs149367812	0.0034	0.0034	0.0031	0.0037	0.0140	0.0033	0.0033	0.0133	0.0130	0.0004	0.0010	7.674e-05	2.529e-05	0.0021	0.0017	0.0030	0.0040	0.0140	0.0021	0.0021	0.0019	0.0023	0.0139	0.0019	0.0019	0.0112	0.0102	0.0006	0	0.0013	0	0	0.0014	0.0034	0.0028	0.0019	0.0139	0.015	0.52492	D	0.029	0.54541	D	0.997	0.70673	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.99723	0.43729	D	1.465	0.36909	L	1.88	0.23884	T	-1.14	0.29323	N	0.475	0.57006	-1.0967	0.04514	T	0.063	0.26244	T	10	0.009788424	0.00220	T	.	.	.	0.113	0.31778	0.344	0.33788	0.459313791991	0.45557	0.0731993553062674	0.07256	0.380827521035	0.39444	0.567534983158	0.48329	T	0.010538	0.09506	T	-0.444818	0.01211	T	-0.40005	0.33380	T	0.0165651994032799	0.00418	T	0.859714	0.56927	D	0.7107906	0.78651	0.435962	0.67065	0.7107906	0.78652	0.435962	0.67065	-3.658	0.18700	T	.	.	0.124	0.26169	B	.;.	.;.	2.773428	0.36409	20.2	0.99813026272342509	0.89708	0.89775	0.50460	D	AEFGBI	0.218360	0.34338	N	0.0343818089446439	0.43426	2.635678	0.0925096527557736	0.44171	2.704067	0.982501057312836	0.30408	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	6.08	3.79	0.42757	0.365000	0.20076	0.292000	0.16883	0.609000	0.47794	0.999000	0.42656	0.997000	0.33255	0.998000	0.85391	0.0:0.2845:0.0:0.7155	8.529	0.32485	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.05	1052.43	34	chr1	186367896	.	T	A	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.894;DP=407;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.496;SOR=0.507	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	9	0	1	0
chr1	196673944	196673944	T	A	exonic	CFH	.	nonsynonymous SNV	CFH:NM_000186:exon3:c.T332A:p.V111E,CFH:NM_001014975:exon3:c.T332A:p.V111E	Basal laminar drusen, Autosomal dominant;Complement factor H deficiency, Autosomal recessive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	1392763	Age_related_macular_degeneration_4|Hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1|Factor_H_deficiency|Basal_laminar_drusen|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.350	0.313858652385	.	0.000399361	0.0001	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs576819823	4.729e-05	4.788e-05	3.683e-05	5.784e-05	0.0007	3.801e-05	3.482e-05	0.0006	0.0005	0	0	0	0	0	0	9.012e-07	9.95e-05	0.0007	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	0	0	0.0006	0.218	0.19090	T	0.278	0.21812	T	0.959	0.55135	D	0.44	0.45726	B	.	.	.	.	0.578384	0.32353	D	.	.	.	0.01	0.62459	T	-2.4	0.59059	N	0.407	0.44761	-0.7829	0.56138	T	0.212	0.57241	T	9	0.18481752	0.33874	T	0.313859	0.91268	D	0.350	0.67142	0.654	0.79172	0.936195021678	0.93553	0.869237624239863	0.86888	0.320435136763	0.34251	0.426937609911	0.28790	T	0.028569	0.20668	T	-0.15196	0.28005	T	-0.076562	0.65155	T	0.165661890906554	0.18280	T	0.625137	0.26417	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.42563	B	.;.;.	.;.;.	4.246316	0.64416	24.7	0.97701422969332063	0.35436	0.67313	0.33388	D	AEFBI	0.771579	0.70617	D	-0.00422194402697867	0.41664	2.496153	0.0996153952888516	0.44530	2.732971	0.00167385162477552	0.08770	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.47	4.3	0.50540	2.435000	0.44469	4.994000	0.46548	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1663:0.0:0.0:0.8337	8.814	0.34144	545	0.72614	.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	713.43	34	chr1	196673944	.	T	A	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.057;DP=415;ExcessHet=0;FS=0.918;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.889;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,934	9	0	1	0
chr1	196774938	196774938	G	A	exonic	CFHR3	.	nonsynonymous SNV	CFHR3:NM_001166624:exon1:c.G52A:p.G18R,CFHR3:NM_021023:exon1:c.G52A:p.G18R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00669300206791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.438e-06	1.402e-06	0	2.896e-06	1.879e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.879e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.28520	T	0.124	0.37037	T	0.975	0.73220	D	0.707	0.66279	P	.	.	.	.	1	0.08975	N	2.505	0.72935	M	1.3	0.35590	T	-2.8	0.65283	D	0.462	0.60071	-1.0019	0.29372	T	0.165	0.50193	T	9	0.80187047	0.79578	D	0.006693	0.17671	T	0.138	0.37187	0.732	0.86547	0.459100921832	0.45533	0.35459076575572285	0.35373	0.322322994843	0.34426	0.465289086103	0.34035	T	0.168774	0.51590	T	-0.130474	0.31419	T	-0.425193	0.30483	T	0.80599057674408	0.46765	D	0.568943	0.20943	T	0.10231307	0.24175	0.15328297	0.36026	0.10231307	0.24175	0.15328297	0.36025	-7.047	0.59858	T	.	.	0.304	0.61051	B	.;.;.;.	.;.;.;.	2.749201	0.36028	20.1	0.99674476717408045	0.78846	0.39380	0.26200	N	AEFDGI	0.366376	0.45421	N	0.0415806500047498	0.43756	2.662356	-0.156656006941921	0.33153	1.893501	7.36714571867804E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.42	1.49	0.21966	2.769000	0.47338	3.065000	0.36176	0.548000	0.25860	0.967000	0.34061	0.269000	0.24035	0.059000	0.15899	0.1692:0.0:0.8308:0.0	5.214	0.14656	534	0.73357	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1859.43	34	chr1	196774938	.	G	A	1859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.447;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.114;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	9	0	1	0
chr1	197105038	197105038	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C4213T:p.R1405C	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	5	1499	18	0	0	18	0.00596817	.	.	.	167665	not_specified|ASPM-related_disorder|Microcephaly_5,_primary,_autosomal_recessive|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.795	.	0.0039	0.00419329	0.0055	0.0008	0.0012	0	0.0014	0.0057	0.0044	0.0152	0.0053039	820	154602	rs139367209	0.0057	0.0057	0.0053	0.0061	0.0132	0.0056	0.0056	0.0125	0.0123	0.0006	0.0014	0.0089	0	0.0014	0.0051	0.0058	0.0048	0.0132	0.0043	0.0043	0.0046	0.0039	0.0162	0.0040	0.0039	0.0133	0.0122	0.0009	0	0.0024	0.0101	0.0004	0.0015	0	0.0065	0.0024	0.0162	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.485	0.92608	M	-1.07	0.76948	T	-5.9	0.88839	D	0.307	0.34659	0.288	0.87364	D	0.559	0.83942	D	10	0.013116419	0.00279	T	.	.	.	0.795	0.93266	.	.	0.976337284706	0.97608	0.3470169309084892	0.34615	.	.	0.369533777237	0.20765	T	0.446768	0.78928	T	0.0427966	0.57410	T	0.299729	0.88184	D	0.0931860433104182	0.11590	T	0.827217	0.49094	T	0.7055581	0.78362	0.48240623	0.70030	0.7055581	0.78363	0.48240623	0.70030	-10.08	0.74389	D	0.4454985388518281	0.53023	0.163	0.36033	B	.	.	4.734065	0.76271	26.5	0.99921080182158495	0.98787	0.98219	0.80648	D	AEFBI	0.749832	0.69114	D	0.744745732320336	0.82561	7.793392	0.675622111294304	0.80534	7.319754	0.855008275730344	0.25116	0.732398	0.92422	0	0.708844	0.79440	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.24	4.33	0.51083	6.479000	0.73509	5.893000	0.50786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0776:0.0:0.9224:0.0	13.085	0.58547	176	0.93188	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.011696	0.000000	0.008621	0.003049	0.015152	0.15	8518.43	37	chr1	197105038	.	G	A	8518.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.15;DP=716;ExcessHet=0;FS=0.472;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=0.894;SOR=0.649	GT:AD:DP:GQ:PL	1/1:0,205:205:99:6095,615,0	8	1	1	0
chr1	198713049	198713049	C	T	exonic	PTPRC	.	nonsynonymous SNV	PTPRC:NM_080921:exon9:c.C785T:p.T262I,PTPRC:NM_002838:exon12:c.C1268T:p.T423I	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	.	364699	not_specified|Immunodeficiency_104	MedGen:CN169374|MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.130	.	0.0068	0.00579073	0.0020	0.0222	0.0012	0	0	8.999e-05	0.0011	0	0.0019534	302	154602	rs6696162	0.0007	0.0007	0.0008	0.0006	0.0244	0.0007	0.0006	0.0230	0.0224	0.0244	0.0013	0	0	0	0.0012	2.429e-05	0.0016	0.0001	0.0068	0.0068	0.0071	0.0066	0.0239	0.0065	0.0064	0.0227	0.0222	0.0239	0	0.0018	0	0	0	0	0.0001	0.0047	0	.	.	.	0.367	0.16619	T	.	.	.	.	.	.	0.002546	0.00896	N	3.526910	1	0.08975	N	.	.	.	0.38	0.57575	T	.	.	.	0.08	0.05542	-1.0407	0.17101	T	0.031	0.13504	T	10	0.0033831298	0.00059	T	.	.	.	0.130	0.35528	.	.	0.364535869594	0.36064	0.40492469543911325	0.40408	0.185757737437	0.20887	0.307649195194	0.11552	T	0.016292	0.13495	T	-0.469731	0.00853	T	-0.428588	0.30094	T	0.0090220478533474	0.00113	T	0.427957	0.11563	T	0.0674463	0.14606	0.035348263	0.02770	0.045349058	0.07408	0.042616215	0.05117	-6.41	0.51577	T	.	.	0.158	0.37274	B	.;.;.;.	.;.;.;.	-4.411972	0.00000	0.001	0.054401745563220187	0.00011	0.00109	0.00694	N	AEFBI	0.042900	0.06714	N	-1.90956713813556	0.00328	0.01409573	-2.07822145132555	0.00208	0.009151382	0.999999875087337	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.18	-8.36	0.00858	-8.218000	0.00030	-20.000000	0.00162	-0.822000	0.02949	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3767:0.0904:0.1653:0.3676	1.397	0.02127	598	0.68232	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004536	0.015152	0.004076	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	683.43	33	chr1	198713049	.	C	T	683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.791;DP=388;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=0.122;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr1	198718192	198718192	C	A	exonic	PTPRC	.	nonsynonymous SNV	PTPRC:NM_080921:exon11:c.C1066A:p.R356S,PTPRC:NM_002838:exon14:c.C1549A:p.R517S	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3905010	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.142	0.0361045101759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.05256	T	.	.	.	.	.	.	0.000000	0.00162	N	11.690600	1	0.08975	N	.	.	.	0.47	0.56114	T	.	.	.	0.102	0.08506	-0.9969	0.30783	T	0.112	0.40122	T	10	0.091471255	0.16025	T	0.036105	0.56779	D	0.142	0.37995	.	.	0.187035705434	0.18338	0.5758304353797926	0.57512	0.192728880092	0.21601	0.243996798992	0.03161	T	0.012157	0.10734	T	-0.226982	0.17050	T	-0.56382	0.16020	T	0.149815425276756	0.17089	T	0.151785	0.01619	T	0.5684135	0.70973	0.11148998	0.26893	0.5684135	0.70975	0.11148998	0.26893	-2.617	0.09335	T	.	.	0.177	0.45470	B	.;.;.;.	.;.;.;.	-2.081592	0.00084	0.001	0.50905225134308163	0.04467	0.00104	0.00666	N	AEFBI	0.053726	0.09706	N	-1.66476498718452	0.00974	0.04222461	-1.86976204482411	0.00561	0.02488589	0.999994731702452	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.28	-8.55	0.00790	-8.323000	0.00028	-20.000000	0.00162	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.316:0.123:0.3304:0.2306	1.218	0.01801	593	0.68665	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	697.43	39	chr1	198718192	.	C	A	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=378;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.04;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1202	9	0	1	0
chr1	198729163	198729163	T	C	exonic	PTPRC	.	nonsynonymous SNV	PTPRC:NM_080921:exon14:c.T1373C:p.V458A,PTPRC:NM_002838:exon17:c.T1856C:p.V619A	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1922997	Immunodeficiency_104	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0200631132582	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257220764	9.596e-06	9.577e-06	5.456e-06	1.378e-05	0.0002	5.57e-06	4.36e-06	7.43e-06	3.32e-06	2.995e-05	4.483e-05	0	0	0	0.0002	9.005e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.74150	T	.	.	.	.	.	.	0.001164	0.39978	N	0.000000	0.991274	0.42392	D	.	.	.	4.12	0.14408	T	.	.	.	0.226	0.32481	-1.1595	0.00768	T	0.035	0.14857	T	10	0.2919737	0.46775	T	0.020063	0.42574	T	0.118	0.32913	.	.	0.578304755241	0.57500	0.5259134513068477	0.52515	0.718008405053	0.62071	0.570687532425	0.48775	T	0.114341	0.43208	T	-0.240652	0.15265	T	-0.40761	0.32502	T	0.688213595205635	0.40166	D	0.850115	0.53348	D	0.23307122	0.46105	0.32865638	0.58753	0.23307122	0.46105	0.32865638	0.58752	-9.835	0.72918	D	.	.	0.652	0.72815	P	.;.;.;.	.;.;.;.	4.438250	0.68891	25.3	0.99877994977300188	0.95491	0.95236	0.63943	D	AEFBI	0.545854	0.56020	D	0.47152497966282	0.65433	4.822051	0.422753437075963	0.62987	4.523623	0.0865217957119838	0.16011	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	4.14	0.47821	4.306000	0.58911	7.768000	0.68418	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0863:0.0:0.9137	8.948	0.34930	628	0.65206	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	238.43	35	chr1	198729163	.	T	C	238.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.496;DP=342;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.488;SOR=1.022	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,943	9	0	1	0
chr1	200409603	200409603	-	GCCGCCGCC	exonic	ZNF281	.	nonframeshift insertion	ZNF281:NM_001281293:exon2:c.102_103insGGCGGCGGC:p.G34_S35insGGG,ZNF281:NM_001281294:exon2:c.102_103insGGCGGCGGC:p.G34_S35insGGG,ZNF281:NM_012482:exon2:c.102_103insGGCGGCGGC:p.G34_S35insGGG	.	317	1201	2	0	2	4	0.000831947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0	0.0035	0	0	0.0002	0	0.0022	0.0001552	24	154602	rs778441303	0.0003	0.0003	0.0002	0.0004	0.0033	0.0003	0.0002	0.0030	0.0029	0.0016	5.597e-05	0	2.8e-05	2.082e-05	0.0007	4.078e-05	0.0004	0.0033	0.0004	0.0005	0.0004	0.0005	0.0023	0.0004	0.0003	0.0013	0.0010	0.0013	0	6.575e-05	0	0	0	0	4.433e-05	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	764.39	34	chr1	200409603	.	T	TGCCGCCGCC	764.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.072;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.66;ReadPosRankSum=-0.567;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1032	9	0	1	0
chr1	200409645	200409645	C	A	exonic	ZNF281	.	nonsynonymous SNV	ZNF281:NM_001281293:exon2:c.G61T:p.G21C,ZNF281:NM_001281294:exon2:c.G61T:p.G21C,ZNF281:NM_012482:exon2:c.G61T:p.G21C	.	335	1180	7	0	0	7	0.00295733	.	.	.	3360700	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.521	0.832106358062	.	0.000399361	0.0006	0.0011	0.0025	0	0	0.0002	0	0.0008	0.0001358	21	154602	rs548362759	0.0002	0.0002	0.0001	0.0002	0.0020	0.0001	0.0001	0.0010	0.0008	0.0002	0.0004	0	0	0	0.0020	9.229e-05	0.0005	0.0008	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	2.476e-05	0	0.0004	0	0	0	0.0075	0.0003	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.984568	0.40162	D	0.345	0.11182	N	-5.06	0.98629	D	0.91	0.01664	N	0.283	0.43514	1.083	0.98984	D	0.932	0.97744	D	9	0.040011853	0.02535	T	0.832106	0.98699	D	0.521	0.79643	0.289	0.24921	0.448695639987	0.44491	0.8140761344860498	0.81363	0.543735637715	0.51437	0.893035888672	0.95633	D	0.179512	0.53053	T	0.311852	0.83884	D	0.210178	0.83675	D	0.132731631522653	0.15632	T	0.427957	0.11563	T	0.45220262	0.64180	0.5788237	0.75592	0.45220262	0.64181	0.5788237	0.75593	-7.742	0.59458	D	.	.	0.174	0.40376	B	.;.;.	.;.;.	4.021272	0.59398	24.1	0.96051165503031855	0.28564	0.83696	0.42797	D	AEFDBHCIJ	0.456999	0.50863	N	0.405326960967087	0.61715	4.376346	0.392171851208297	0.61080	4.303419	0.999999999965674	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.87	3.87	0.43823	1.582000	0.36177	3.794000	0.39841	0.499000	0.22661	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.092	0.64527	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002073	0.011111	0.001385	0.002994	0.000000	0.000000	0.000000	0.003876	0.05	426.43	34	chr1	200409645	.	C	A	426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.27;ReadPosRankSum=-1.375;SOR=0.678	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,101,1336	9	0	1	0
chr1	200618627	200618627	T	G	exonic	KIF14	.	nonsynonymous SNV	KIF14:NM_014875:exon2:c.A97C:p.S33R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0598023036567	.	.	8.245e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs760296546	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.022	0.57587	D	0.097	0.25541	B	0.073	0.28123	B	0.025736	0.26038	N	0.400337	1	0.08975	N	0.895	0.22405	L	-1.14	0.77843	T	-1.74	0.41239	N	0.417	0.45709	-0.7999	0.55150	T	0.264	0.63480	T	10	0.12133214	0.22998	T	0.059802	0.67788	D	0.215	0.50805	0.171	0.07655	0.73809756493	0.73575	0.43741560593667095	0.43658	0.164389095634	0.18549	0.244681715965	0.03228	T	0.043483	0.26515	T	-0.0606222	0.42811	T	-0.324856	0.42040	T	0.113708361654837	0.13804	T	0.549745	0.18930	T	0.09307481	0.21852	0.12244108	0.29536	0.09307481	0.21852	0.12244108	0.29535	-3.436	0.15545	T	.	.	0.149	0.35098	B	.;.	.;.	0.138930	0.05329	1.820	0.98157541347531352	0.38747	0.25676	0.22770	N	AEFBI	0.096724	0.19521	N	-0.951395020836266	0.09662	0.4582316	-1.02186807934121	0.09305	0.4621718	0.999491728269762	0.40007	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.18	-1.39	0.08526	0.257000	0.18137	-1.321000	0.05722	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.069000	0.16583	0.0:0.409:0.0:0.591	11.026	0.46963	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1373.43	33	chr1	200618627	.	T	G	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=431;ExcessHet=0;FS=5.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.873;SOR=0.38	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	9	0	1	0
chr1	201039947	201039947	G	A	exonic	CACNA1S	.	stopgain	CACNA1S:NM_000069:exon44:c.C5506T:p.R1836X	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1923578	Hypokalemic_periodic_paralysis,_type_1|Thyrotoxic_periodic_paralysis,_susceptibility_to,_1|Congenital_myopathy_18|Malignant_hyperthermia,_susceptibility_to,_5	MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102|MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs926000507	6.157e-06	6.84e-06	2.723e-06	9.626e-06	5.797e-05	2.9e-06	2.1e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	3.597e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400231	0.04529	U	1.536250	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.505	0.53884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240329	0.77694	D	0.288967	0.87607	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.652115	0.97839	38	0.99497677802862083	0.67859	0.10349	0.15880	N	AEFBI	0.067550	0.13285	N	0.337032325300686	0.58059	3.976035	0.080738040017168	0.43581	2.656864	0.0951414649336419	0.16221	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.36	4.36	0.51643	0.514000	0.22492	4.992000	0.46535	0.581000	0.30040	0.001000	0.13787	0.987000	0.30940	0.968000	0.53726	0.0:0.1719:0.6511:0.177	8.026	0.29601	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5524.14	48	chr1	201039947	.	G	A	5524.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.31;DP=803;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.674;SOR=0.793	GT:AD:DP:GQ:PL	0/1:108,104:212:99:2360,0,2447	8	0	2	0
chr1	201209574	201209574	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G4681A:p.V1561M	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0424514690007	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199560350	2.2e-06	5.826e-05	0	4.463e-06	8.755e-05	5.9e-07	1.6e-07	2.32e-05	1.243e-05	0	0	0	8.755e-05	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.058	0.37750	T	0.23	0.25135	T	.	.	.	.	.	.	.	.	.	.	1	0.31195	N	.	.	.	-2.34	0.87989	D	-0.18	0.09796	N	0.058	0.02964	-0.6413	0.63091	T	0.335	0.70190	T	6	0.09829211	0.17760	T	0.042451	0.60473	D	0.111	0.31313	.	.	0.418221603839	0.41440	0.4259469644963177	0.42511	.	.	0.345199108124	0.17212	T	.	.	.	-0.208911	0.19532	T	-0.537862	0.18506	T	0.0624787049460526	0.07554	T	0.334067	0.07092	T	.	.	.	.	.	.	.	.	-6.804	0.52589	T	.	.	0.148	0.32804	B	.	.	0.387019	0.07588	4.245	0.90860894993395269	0.20109	0.02096	0.06219	N	AEFBI	0.055340	0.10140	N	-0.931187694329861	0.10118	0.482022	-1.08983207664597	0.07899	0.3861357	4.72183203972467E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.39	0.207	0.14491	-0.178000	0.09775	-9.871000	0.00766	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2665:0.7335:0.0	7.689	0.27722	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012195	0.024390	0.028302	0.013393	0.000000	0.083333	0.006494	0.013514	0.0625	368.13	382	chr1	201209574	.	G	A	368.13	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.342;DP=3298;ExcessHet=0;FS=5.374;InbreedingCoeff=-0.1321;MLEAC=1;MLEAF=0.063;MQ=57.76;MQRankSum=-11.47;QD=1.2;ReadPosRankSum=-3.539;SOR=1.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:320,0:320:46:.:.:0,46,7782:.	7	0	1	2
chr1	201209577	201209577	A	G	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A4684G:p.N1562D	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0190191815074	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266023800	0	5.088e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.341	0.12673	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.33	0.87910	D	-0.62	0.18248	N	0.062	0.03392	-0.8192	0.53984	T	0.308	0.67831	T	6	0.07540259	0.11648	T	0.019019	0.41266	T	0.175	0.44197	.	.	0.319970858106	0.31615	0.26554459910632044	0.26467	.	.	0.361872196198	0.19658	T	.	.	.	-0.213361	0.18908	T	-0.544255	0.17882	T	0.0424012125872128	0.04128	T	0.20408	0.02372	T	.	.	.	.	.	.	.	.	-5.531	0.42157	T	.	.	0.106	0.19800	B	.	.	-0.816030	0.01075	0.047	0.80079953806396409	0.13035	0.00057	0.00426	N	AEFBI	0.026151	0.01914	N	-1.29212876401835	0.03769	0.1689677	-1.44933870245113	0.02776	0.1282977	1.29537362201582E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.71	-1.02	0.09618	-2.873000	0.00788	-3.768000	0.02550	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6681:0.0:0.3319:0.0	6.065	0.19081	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.047872	0.102410	0.055556	0.044248	0.100000	0.090909	0.049383	0.051282	0.07143	374.53	382	chr1	201209577	.	A	G	374.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=3322;ExcessHet=0;FS=5.434;InbreedingCoeff=-0.1431;MLEAC=1;MLEAF=0.071;MQ=57.73;MQRankSum=-11.31;QD=1.22;ReadPosRankSum=-2.943;SOR=1.566	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:323,0:323:0:.:.:0,0,7626:.	6	0	1	3
chr1	201209580	201209580	A	G	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A4687G:p.K1563E	.	426	1084	7	0	5	12	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0728036774079	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200427142	7.922e-07	7.388e-05	0	1.612e-06	1.421e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.421e-05	9.045e-05	0.0007	0.0001	7.486e-05	0.0003	4.863e-05	3.723e-05	2.64e-05	1.539e-05	9.863e-05	0	9.399e-05	0.0004	0	0	0	7.891e-05	0	0.0003	0.935	0.02222	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.54	0.89496	D	-0.05	0.07736	N	0.022	0.00372	-0.7559	0.57625	T	0.359	0.72100	T	6	0.06936321	0.09942	T	0.072804	0.71626	D	0.162	0.41843	.	.	0.321951552304	0.31805	0.45121516021235264	0.45039	.	.	0.331884562969	0.15219	T	.	.	.	-0.231406	0.16463	T	-0.570175	0.15434	T	0.0442954428783114	0.04474	T	0.156884	0.01387	T	.	.	.	.	.	.	.	.	-4.14	0.25877	T	.	.	0.096	0.15251	B	.	.	-0.908112	0.00912	0.034	0.76296635407682756	0.11411	0.00009	0.00143	N	AEFBI	0.016961	0.00414	N	-1.20936234869678	0.04862	0.2203807	-1.36275170289685	0.03658	0.1710786	1.2352420795692E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.71	-0.667	0.10823	-0.840000	0.04471	-20.000000	0.00162	-2.891000	0.00164	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4022:0.0:0.5978:0.0	6.886	0.23383	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.083770	0.142857	0.107143	0.057522	0.100000	0.227273	0.085366	0.125000	0.07143	377.53	382	chr1	201209580	.	A	G	377.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.68;DP=3403;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.1431;MLEAC=1;MLEAF=0.071;MQ=57.7;MQRankSum=-11.08;QD=1.24;ReadPosRankSum=-2.317;SOR=1.57	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:321,0:321:0:.:.:0,0,7429:.	6	0	1	3
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6309.51	308	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	6309.51	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-0.207;DP=2580;ExcessHet=0;FS=0;InbreedingCoeff=0.4667;MLEAC=4;MLEAF=1;MQ=51.86;MQRankSum=-8.213;QD=27.43;ReadPosRankSum=-7.496;SOR=0.678	GT:AD:DP:GQ:PL	./.:229,0:229:0:0,0,0	1	1	0	8
chr1	201227199	201227199	A	C	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon23:c.A11104C:p.I3702L,IGFN1:NM_001367841:exon24:c.A3733C:p.I1245L	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.250893070999	.	0.000199681	0.0004	0	0	0	0	0	0.0026	0.0024	0.0001682	26	154602	rs532514888	0.0001	0.0003	8.43e-05	0.0001	0.0010	9.643e-05	9.115e-05	0.0008	0.0007	3.049e-05	0	0	0	0	0.0007	6.101e-05	8.414e-05	0.0010	2.628e-05	2.625e-05	2.571e-05	2.687e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.011e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	0.013	0.53900	D	0.0	0.92824	D	.	.	.	.	.	.	0.076203	0.21176	N	0.477049	1	0.81001	D	0.945	0.23706	L	-0.23	0.66652	T	-0.9	0.24244	N	0.235	0.26475	-0.7757	0.56542	T	0.215	0.57652	T	10	0.030611575	0.01189	T	0.250893	0.89110	D	0.050	0.13987	0.403	0.43408	0.36256342048	0.35873	0.43746127068695123	0.43663	.	.	0.463400959969	0.33777	T	0.012583	0.11036	T	-0.404182	0.02173	T	-0.403796	0.32943	T	0.11559162359828	0.13994	T	0.558444	0.19458	T	0.09678871	0.22805	0.16909662	0.38918	0.09678871	0.22804	0.16909662	0.38917	-4.498	0.31006	T	.	.	0.255	0.49018	B	.;.	.;.	2.346154	0.30070	18.32	0.97534627905745963	0.34480	0.82466	0.41689	D	AEFDBI	0.201819	0.32845	N	-0.188309081911875	0.33621	1.90946	-0.104656735816503	0.35202	2.033821	0.00105529031044758	0.08170	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	4.05	0.46415	1.746000	0.37915	5.560000	0.48915	0.665000	0.62972	0.807000	0.29812	1.000000	0.68203	0.438000	0.27627	0.7575:0.1593:0.0832:0.0	6.383	0.20747	917	0.20147	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	307.43	31	chr1	201227199	.	A	C	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.77;DP=259;ExcessHet=0;FS=5.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.388;SOR=2.712	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	9	0	1	0
chr1	201387170	201387170	C	T	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.G191A:p.S64N	.	416	1094	12	0	0	12	0.00545455	.	.	.	696381	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.126	0.010655477065	0.0011	0.00199681	0.0019	0	0.0013	0	0.0002	0.0024	0.0013	0.0042	0.0018111	280	154602	rs143280381	0.0013	0.0013	0.0012	0.0014	0.0095	0.0012	0.0012	0.0074	0.0066	0.0002	0.0016	0.0135	0	0.0002	0.0095	0.0009	0.0022	0.0030	0.0012	0.0012	0.0012	0.0013	0.0033	0.0011	0.0010	0.0021	0.0017	0.0002	0	0.0005	0.0153	0	0.0002	0	0.0015	0.0009	0.0033	0.0	0.91255	D	0.031	0.70582	D	0.999	0.77913	D	0.982	0.84481	D	0.001107	0.40219	N	0.235599	0.908114	0.36340	D	2.54	0.74080	M	2.33	0.16794	T	-2.2	0.50337	N	0.325	0.36569	-0.8954	0.48446	T	0.106	0.38587	T	10	0.006062001	0.00136	T	0.010655	0.27430	T	0.126	0.34673	.	.	0.104622674875	0.10061	0.039214810868750394	0.03867	0.497447347806	0.48245	0.466643422842	0.34221	T	0.208963	0.56904	T	-0.527928	0.00395	T	-0.531389	0.19147	T	0.135137468576431	0.15849	T	0.740126	0.37414	T	0.27455127	0.50520	0.28137487	0.54119	0.27455127	0.50520	0.28137487	0.54118	-6.291	0.48650	T	.	.	0.273	0.63329	B	.;.;.;.;.	.;.;.;.;.	2.640700	0.34361	19.61	0.99229407829368932	0.56183	0.34538	0.25091	N	AEFDBI	0.158150	0.28376	N	0.171522803344348	0.49836	3.179601	0.00945469408973119	0.40153	2.391793	0.999999912274535	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.91	4.91	0.63897	3.074000	0.49763	2.128000	0.30762	0.545000	0.25583	0.417000	0.26305	0.944000	0.28851	0.031000	0.13245	0.0:1.0:0.0:0.0	13.593	0.61435	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.010101	0.006812	0.005848	0.000000	0.008621	0.015244	0.000000	0.05	893.43	36	chr1	201387170	.	C	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.257;DP=458;ExcessHet=0;FS=4.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.382;SOR=0.845	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr1	201648788	201648788	A	C	exonic	NAV1	.	nonsynonymous SNV	NAV1:NM_020443:exon1:c.A120C:p.R40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.49958022594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.461	0.13066	T	.	.	.	.	.	.	0.546780	0.11478	N	0.787717	0.680322	0.30284	N	0.345	0.11182	N	3.2	0.07236	T	-0.29	0.11728	N	0.152	0.15609	-1.0132	0.25912	T	0.011	0.04042	T	10	0.08569273	0.14492	T	0.49958	0.95130	D	0.051	0.14325	0.285	0.24280	0.134007934775	0.12933	0.2055288334752255	0.20469	1.07880436334	0.77074	0.84635746479	0.89063	D	0.015252	0.12830	T	-0.343908	0.05122	T	-0.731776	0.04248	T	0.0755069110968361	0.09402	T	0.725927	0.34027	T	0.107654385	0.25456	0.07325308	0.15898	0.107654385	0.25456	0.07325308	0.15898	-3.633	0.18335	T	.	.	0.355	0.57424	A	.;.	.;.	2.031078	0.25816	16.90	0.98592222352923709	0.43388	0.09836	0.15501	N	ALL	0.106803	0.21299	N	-0.732150502882954	0.15123	0.7593724	-0.617220613768864	0.19051	1.020445	0.999999999976275	0.74766	0.666168	0.50170	0	0.005938	0.00030	3	0.606814	0.37721	0	0.372554	0.06265	0	.	.	4.38	2.08	0.26079	-0.387000	0.07419	0.623000	0.20150	0.656000	0.54149	0.023000	0.19925	0.519000	0.25298	0.985000	0.61073	0.4964:0.3322:0.1714:0.0	4.965	0.13434	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	749.43	34	chr1	201648788	.	A	C	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.743;SOR=0.548	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1031	9	0	1	0
chr1	201829244	201829244	G	A	exonic	IPO9	.	nonsynonymous SNV	IPO9:NM_018085:exon1:c.G35A:p.G12E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.4362444181	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1459978213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.126	0.35205	T	0.008	0.14655	B	0.02	0.19048	B	0.012469	0.29163	N	0.353127	0.996821	0.43441	D	0	0.06538	N	.	.	.	-0.01	0.07155	N	0.116	0.10483	-1.0651	0.10526	T	0.076	0.30645	T	9	0.17223135	0.31986	T	0.436244	0.94077	D	0.300	0.62068	0.155	0.05858	0.615140795339	0.61203	0.4987436685259124	0.49795	0.80591612175	0.66462	0.938572764397	0.99400	D	0.177125	0.52731	T	0.0200806	0.54392	T	-0.208932	0.53798	T	0.36707545231068	0.27684	T	0.770923	0.40135	T	0.11429964	0.26985	0.2563447	0.51332	0.11429964	0.26985	0.2563447	0.51331	-6.419	0.49657	T	.	.	0.158	0.34992	B	.	.	3.697633	0.52717	23.3	0.98259582284208369	0.39649	0.50902	0.28770	D	AEFGBHCI	0.501235	0.53416	D	-0.343769202829205	0.27502	1.509398	-0.183624971867876	0.32138	1.825426	0.999999999999794	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	3.06	0.34374	0.886000	0.27878	9.338000	0.80191	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.1548:0.6853:0.1599	9.575	0.38615	291	0.88420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	930.43	62	chr1	201829244	.	G	A	930.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=373;ExcessHet=0;FS=3.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.467;SOR=0.35	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	9	0	1	0
chr1	201983007	201983007	C	T	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_020216:exon1:c.C341T:p.P114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.146955090635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.02	0.59159	D	0.998	0.73220	D	0.98	0.74843	D	0.001146	0.40056	N	0.171581	1	0.81001	D	3.44	0.92123	M	4.19	0.02716	T	-4.56	0.78636	D	0.398	0.50056	-1.1701	0.00537	T	0.032	0.13811	T	10	0.37591493	0.53829	T	0.146955	0.82902	D	0.147	0.38986	0.435	0.48664	0.500303608228	0.49666	0.42941251417418147	0.42858	0.655062403799	0.58563	0.735599398613	0.72325	T	0.238264	0.60612	T	-0.0324865	0.47055	T	-0.284441	0.46348	T	0.985755980014801	0.76655	D	0.835117	0.50885	T	0.37368038	0.58855	0.3769248	0.62804	0.37368038	0.58856	0.3769248	0.62804	-8.396	0.63739	D	.	.	0.170	0.46436	B	.;.	.;.	4.459522	0.69394	25.4	0.99885146970315919	0.96049	0.86921	0.46312	D	ALL	0.604386	0.59550	D	0.550003052940945	0.70081	5.449594	0.470995707502999	0.66075	4.905226	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	4.06	4.06	0.46572	2.227000	0.42615	3.573000	0.39130	0.549000	0.26987	0.919000	0.31930	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	13.234	0.59389	740	0.53092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	258.43	28	chr1	201983007	.	C	T	258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=317;ExcessHet=0;FS=3.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=-1.091;SOR=1.235	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	202148682	202148682	G	A	exonic	PTPN7	.	nonsynonymous SNV	PTPN7:NM_001364878:exon9:c.C1007T:p.T336M,PTPN7:NM_080588:exon9:c.C1124T:p.T375M,PTPN7:NM_001199797:exon10:c.C1229T:p.T410M,PTPN7:NM_001364877:exon10:c.C1004T:p.T335M,PTPN7:NM_002832:exon10:c.C1007T:p.T336M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.667	0.300605116737	.	.	1.679e-05	0	8.761e-05	0	0	0	0	6.142e-05	1.29e-05	2	154602	rs781093850	1.574e-05	1.642e-05	1.362e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	1.012e-05	8.35e-06	0	2.238e-05	0	2.52e-05	0	0.0002	1.619e-05	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.034	0.56192	D	1.0	0.90584	D	0.998	0.88582	D	0.000022	0.55875	D	0.000000	0.999899	0.58761	D	.	.	.	2.18	0.18875	T	-5.52	0.85994	D	0.844	0.86191	-0.6181	0.64067	T	0.189	0.54079	T	10	0.87545156	0.86832	D	0.300605	0.90869	D	0.667	0.87625	.	.	0.561027722634	0.55763	0.617582545577373	0.61690	0.679948637296	0.59958	0.770737707615	0.77535	T	0.682228	0.90681	D	0.199236	0.73821	D	0.156069	0.80564	D	0.97398042678833	0.70320	D	0.987701	0.95793	D	.	.	.	.	.	.	.	.	-10.879	0.80002	D	.	.	0.478	0.66996	A	.;.;.	.;.;.	5.500409	0.91581	32	0.99902441421915555	0.97426	0.97180	0.73161	D	AEFBHCI	0.916947	0.88386	D	0.9226995864736	0.92826	11.65263	0.850582954148592	0.93051	11.793	0.999999999571609	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	9.043000	0.93270	11.720000	0.94800	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.401	0.83478	834	0.38640	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;.;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1675.43	34	chr1	202148682	.	G	A	1675.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.747;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1182	9	0	1	0
chr1	202440718	202440718	A	G	exonic	PPP1R12B	.	nonsynonymous SNV	PPP1R12B:NM_001331029:exon11:c.A1471G:p.K491E,PPP1R12B:NM_002481:exon11:c.A1471G:p.K491E	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00220291764973	.	0.00119808	0.0008	9.686e-05	8.637e-05	0	0	8.995e-05	0	0.0053	0.0006598	102	154602	rs201801874	0.0003	0.0003	0.0002	0.0005	0.0047	0.0003	0.0003	0.0043	0.0042	0.0001	0	0	0	0	0.0035	2.25e-05	0.0003	0.0047	0.0002	0.0002	8.992e-05	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.405e-05	0	0	0	0	0	0.0034	7.349e-05	0.0005	0.0046	.	.	.	0.272	0.25286	T	0.049	0.22227	B	0.016	0.17743	B	0.035259	0.24668	N	0.418170	0.813619	0.34675	D	2.39	0.68882	M	.	.	.	.	.	.	0.468	0.50418	-1.0638	0.10831	T	0.098	0.36754	T	10	0.007736236	0.00176	T	0.002203	0.04151	T	.	.	.	.	0.436455679973	0.43264	0.05683997228937361	0.05624	0.259433600952	0.28498	0.311503082514	0.12134	T	0.038211	0.24756	T	-0.396046	0.02457	T	-0.340027	0.40340	T	0.0505341742757709	0.05593	T	0.824917	0.48720	T	0.2520805	0.48221	0.25601518	0.51294	0.2520805	0.48221	0.25601518	0.51293	-6.714	0.51916	T	.	.	0.205	0.43144	B	.;.	.;.	3.412683	0.47344	22.4	0.99134735055086187	0.53356	0.90703	0.52102	D	AEFBI	0.161094	0.28712	N	-0.140061051381712	0.35660	2.051028	0.030426940645274	0.41135	2.466307	0.00647402422950397	0.11227	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.96	4.81	0.61401	3.772000	0.55034	6.916000	0.56914	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8649:0.1351:0.0:0.0	12.981	0.57963	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.011696	0.000000	0.000000	0.003049	0.015152	0.05	1018.43	34	chr1	202440718	.	A	G	1018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.759;DP=407;ExcessHet=0;FS=2.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.907;SOR=1.107	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1148	9	0	1	0
chr1	202729710	202729710	A	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon25:c.T4359A:p.D1453E,KDM5B:NM_006618:exon26:c.T4494A:p.D1498E,KDM5B:NM_001314042:exon27:c.T4602A:p.D1534E	.	426	1092	3	1	0	5	0.00228415	.	.	.	2367551	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0222825450552	0.0002	0.000199681	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001358	21	154602	rs200575696	0.0002	0.0002	0.0002	0.0002	0.0043	0.0002	0.0002	0.0030	0.0026	2.992e-05	0.0001	0	0	0	0.0043	0.0002	0.0003	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	9.143e-05	7.699e-05	0.0001	9.898e-05	0	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0	0.284	0.16198	T	0.75	0.06970	T	0.011	0.22658	B	0.028	0.22546	B	0.000001	0.84330	D	0.093483	0.985224	0.40254	D	0.545	0.13751	N	-1.88	0.84487	D	-1.07	0.31375	N	0.336	0.38746	-0.9005	0.47942	T	0.278	0.64987	T	10	0.07231936	0.10778	T	0.022283	0.45152	T	0.230	0.53062	0.441	0.49648	0.298745278005	0.29478	0.23540536816406193	0.23455	0.25013123898	0.27594	0.75641387701	0.75395	T	0.019393	0.15458	T	-0.262637	0.12593	T	-0.314713	0.43150	T	0.0289787732481065	0.01834	T	0.783822	0.43772	T	0.05931857	0.12040	0.06687431	0.13758	0.05931857	0.12039	0.06687431	0.13757	-4.149	0.26009	T	.	.	0.127	0.61796	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.028378	0.25781	16.88	0.93444781135175159	0.23224	0.89554	0.50092	D	AEFDBI	0.189266	0.31652	N	-0.536383643627091	0.20912	1.10596	-0.351452235908104	0.26465	1.461926	0.392652138265036	0.20060	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.68	2.03	0.25714	0.907000	0.28154	1.243000	0.25119	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.6602:0.1244:0.2154:0.0	6.089	0.19206	411	0.82069	Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003535	0.000000	0.004076	0.002941	0.000000	0.008621	0.003106	0.000000	0.05	786.43	35	chr1	202729710	.	A	T	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.33;DP=355;ExcessHet=0;FS=8.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.1;ReadPosRankSum=0.77;SOR=2.395	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1260	9	0	1	0
chr1	203049733	203049733	C	T	exonic	PPFIA4	.	stopgain	PPFIA4:NM_001304331:exon13:c.C1477T:p.R493X,PPFIA4:NM_001304332:exon13:c.C1477T:p.R493X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.169e-05	0	0	0.0002	0	0	0	0.0001	1.29e-05	2	154602	rs767596639	7.667e-06	9.577e-06	5.543e-06	9.817e-06	2.439e-05	4.11e-06	3.01e-06	4.05e-06	2.79e-06	0	0	0	0	0	0	8.198e-06	0	2.439e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.067956	0.21706	U	0.221425	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.418	0.45803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0999489	0.64288	D	-0.0942068	0.63843	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.	High;.	9.347047	0.98806	40	0.99771366348730284	0.85918	0.91220	0.53096	D	AEFDBI	0.215136	0.34052	N	0.0825186690553071	0.45650	2.817864	0.166245378547797	0.48010	3.022786	0.999987995918358	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	1.090000	0.30514	4.785000	0.44861	0.594000	0.32500	0.942000	0.32722	1.000000	0.68203	0.995000	0.73285	0.2076:0.7924:0.0:0.0	12.656	0.56149	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2679.14	33	chr1	203049733	.	C	T	2679.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=472;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.268;SOR=0.671	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1089	8	0	2	0
chr1	203347823	203347823	C	G	exonic	FMOD	.	nonsynonymous SNV	FMOD:NM_002023:exon2:c.G448C:p.V150L	.	427	1092	3	0	0	3	0.00137174	.	.	.	3432464	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.0262434320911	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs758862040	3.694e-05	3.694e-05	2.995e-05	4.401e-05	0.0049	2.894e-05	2.592e-05	0.0034	0.0030	2.987e-05	0	0	0	0	0.0049	1.619e-05	4.967e-05	4.637e-05	2.629e-05	2.627e-05	1.285e-05	4.037e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.078	0.33923	T	0.228	0.25286	T	0.3	0.32550	B	0.129	0.32841	B	0.008803	0.30655	N	0.337584	0.580285	0.31105	N	0.56	0.15190	N	0.45	0.56446	T	-1.65	0.39503	N	0.402	0.44283	-0.9824	0.34445	T	0.093	0.35444	T	10	0.09985161	0.18148	T	0.026243	0.49161	D	0.052	0.14661	0.621	0.75576	0.528059499947	0.52454	0.56706175672735	0.56634	0.0551494826904	0.06106	0.41206997633	0.26743	T	0.358419	0.72498	T	-0.297809	0.08867	T	-0.509193	0.21399	T	0.0739832354725179	0.09199	T	0.715028	0.32905	T	0.20460917	0.42576	0.1291647	0.31062	0.20460917	0.42576	0.1291647	0.31061	-6.652	0.51448	T	.	.	0.783	0.76510	P	.;.	.;.	2.007248	0.25502	16.79	0.89747168359450313	0.19066	0.69401	0.34173	D	AEFDBI	0.499295	0.53304	N	-0.890871778742094	0.11059	0.5316753	-0.87939744275269	0.12582	0.6480833	0.647271911277109	0.22121	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.39	0.258	0.14835	0.941000	0.28602	1.086000	0.23936	-0.850000	0.02721	0.291000	0.25242	0.973000	0.29867	0.619000	0.31870	0.0:0.5292:0.0:0.4708	8.994	0.35201	920	0.19381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2362.43	33	chr1	203347823	.	C	G	2362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.82;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.29;SOR=0.669	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1078	9	0	1	0
chr1	203486733	203486733	A	G	exonic	PRELP	.	nonsynonymous SNV	PRELP:NM_002725:exon3:c.A1001G:p.N334S,PRELP:NM_201348:exon3:c.A1001G:p.N334S	.	425	1034	60	3	0	66	0.0309278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0052	0.00758786	0.0095	0.0014	0.0024	0	0.0136	0.0086	0.0066	0.0267	0.0087062	1346	154602	rs2233732	0.0072	0.0072	0.0064	0.0079	0.0272	0.0070	0.0070	0.0262	0.0259	0.0004	0.0016	0.0025	5.044e-05	0.0145	0.0115	0.0060	0.0067	0.0272	0.0056	0.0056	0.0048	0.0065	0.0232	0.0053	0.0052	0.0198	0.0184	0.0013	0	0.0016	0.0020	0	0.0160	0.0102	0.0071	0.0038	0.0232	1.0	0.00964	T	0.743	0.04930	T	0.0	0.02946	B	0.003	0.08700	B	0.320284	0.14282	N	0.686157	1	0.08975	N	0.14	0.08730	N	3.68	0.04151	T	0.43	0.03297	N	0.082	0.05799	-0.8997	0.48024	T	0.004	0.01261	T	10	0.0030761957	0.00051	T	.	.	.	0.016	0.02506	.	.	0.314716216878	0.31082	0.37569064836316246	0.37483	0.244964202467	0.27014	0.271674275398	0.06360	T	0.126654	0.45317	T	-0.673857	0.00052	T	-0.719775	0.04807	T	0.00674077304250171	0.00076	T	0.630137	0.24490	T	0.039595705	0.05495	0.05605384	0.09946	0.039595705	0.05495	0.05605384	0.09946	-2.302	0.04566	T	.	.	0.058	0.00670	B	.	.	0.390899	0.07625	4.288	0.21749631327509414	0.00843	0.10202	0.15773	N	AEFBI	0.179498	0.30679	N	-1.17441942802711	0.05389	0.2455513	-1.11938639794999	0.07330	0.3561344	0.999580077036567	0.40607	0.581397	0.33459	0	0.547309	0.14657	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.45	-0.0252	0.13262	0.099000	0.15047	1.477000	0.26794	0.756000	0.94297	0.000000	0.06391	0.213000	0.23658	0.773000	0.36634	0.5174:0.2678:0.2148:0.0	6.184	0.19702	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.000000	0.005435	0.008772	0.000000	0.017241	0.015244	0.049242	0.05	1291.43	37	chr1	203486733	.	A	G	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.557;DP=467;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.724;SOR=0.595	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1411	9	0	1	0
chr1	203712128	203712128	G	A	exonic	ATP2B4	.	nonsynonymous SNV	ATP2B4:NM_001001396:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365783:exon13:c.G2200A:p.E734K,ATP2B4:NM_001365784:exon13:c.G2200A:p.E734K,ATP2B4:NM_001684:exon13:c.G2200A:p.E734K	.	392	1122	7	1	0	9	0.00399467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.15961621119	.	.	1.662e-05	0	0	0	0	3.018e-05	0	0	1.29e-05	2	154602	rs767252454	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0005	9.85e-06	8.42e-06	0.0001	7.578e-05	0	0	0	2.519e-05	0	0.0005	1.529e-05	1.656e-05	0	3.942e-05	3.94e-05	2.569e-05	5.379e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.123	0.27544	T	0.172	0.30241	T	0.522	0.37544	P	0.23	0.38212	B	0.000068	0.52346	D	0.000000	1	0.81001	D	1.1	0.28011	L	-4.37	0.97343	D	-2.55	0.55181	D	0.677	0.68429	1.000	0.97188	D	0.889	0.96308	D	10	0.6508374	0.69593	D	0.159616	0.83978	D	0.719	0.90056	0.506	0.60078	0.728539117464	0.72613	0.6630601337283123	0.66243	1.09264733632	0.77486	0.723170399666	0.70508	T	.	.	.	0.299337	0.82915	D	0.255847	0.85896	D	0.846108078956604	0.49833	D	0.959604	0.84807	D	.	.	.	.	.	.	.	.	-8.212	0.62633	D	.	.	0.208	0.43435	B	.;.;.	.;.;.	4.960152	0.82006	27.7	0.99923866938744876	0.98917	0.99593	0.97790	D	AEFDBI	0.880162	0.80662	D	0.533246543680304	0.69067	5.304861	0.630452243532627	0.77161	6.626581	0.999999999999856	0.74766	0.719381	0.83141	0	0.593476	0.48661	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.51	5.51	0.81769	9.875000	0.98483	11.786000	0.96242	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.031	0.92939	598	0.68232	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	756.14	61	chr1	203712128	.	G	A	756.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.1;DP=386;ExcessHet=0.2348;FS=4.004;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=0.939;SOR=0.359	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	8	0	2	0
chr1	203772073	203772073	C	T	exonic	LAX1	.	nonsynonymous SNV	LAX1:NM_001136190:exon4:c.C268T:p.H90Y,LAX1:NM_001282878:exon4:c.C88T:p.H30Y,LAX1:NM_017773:exon4:c.C316T:p.H106Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00275016132125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.40068	T	0.242	0.24334	T	0.965	0.56013	D	0.466	0.46637	P	0.782499	0.06663	N	1.109350	0.988882	0.24360	N	1.495	0.37439	L	.	.	.	-3.31	0.65972	D	0.325	0.36569	-1.0176	0.24495	T	0.108	0.39221	T	9	0.20462683	0.36661	T	0.00275	0.05694	T	0.046	0.12618	0.268	0.21576	0.605049500696	0.60188	0.024654007578971442	0.02416	0.196763213255	0.22047	0.333337843418	0.15438	T	0.610397	0.87644	D	-0.151841	0.28022	T	-0.455885	0.27049	T	0.606053292751312	0.36642	D	0.673433	0.28201	T	0.14101975	0.32512	0.20251477	0.44284	0.14101975	0.32512	0.20251477	0.44283	-3.943	0.22948	T	.	.	0.120	0.28664	B	.;.	.;.	2.070044	0.26324	17.08	0.99165217897944913	0.54212	0.25479	0.22711	N	AEFDGBIJ	0.074237	0.14873	N	0.0128197722892784	0.42438	2.556956	-0.0485570388563663	0.37552	2.20032	0.999938819406304	0.46732	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.16	3.25	0.36363	0.755000	0.26070	2.657000	0.33854	0.599000	0.40250	0.514000	0.27064	0.968000	0.29604	0.925000	0.46118	0.0:0.8181:0.0:0.1819	8.684	0.33389	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1734.14	81	chr1	203772073	.	C	T	1734.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=440;ExcessHet=0.2348;FS=1.244;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=1.64;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,890	8	0	2	0
chr1	203847483	203847483	C	T	exonic	ZC3H11A	.	nonsynonymous SNV	ZC3H11A:NM_001376336:exon12:c.C1342T:p.P448S,ZC3H11A:NM_001350264:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376342:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376349:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376350:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376360:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376364:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376365:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001376366:exon13:c.C1342T:p.P448S,ZC3H11A:NM_001350263:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001350265:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376334:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376337:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376338:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376339:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376340:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376341:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376343:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376344:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376345:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376347:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376352:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376354:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376355:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001376367:exon14:c.C1342T:p.P448S,ZC3H11A:NM_001319238:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001319239:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001350261:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001350262:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001350266:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376335:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376346:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376348:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376351:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376353:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376357:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376358:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376359:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376361:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376363:exon15:c.C1342T:p.P448S,ZC3H11A:NM_014827:exon15:c.C1342T:p.P448S,ZC3H11A:NM_001376356:exon16:c.C1342T:p.P448S,ZC3H11A:NM_001376362:exon16:c.C1342T:p.P448S	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0207710788555	.	.	8.345e-06	0	0	0	0	0	0	6.067e-05	6.5e-06	1	154602	rs775669259	1.095e-05	1.094e-05	1.361e-06	2.063e-05	0.0002	6.48e-06	5.24e-06	8.886e-05	7.054e-05	0	0	0	0	0	0	8.994e-07	3.312e-05	0.0002	1.97e-05	1.968e-05	0	4.03e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	0	0	0.0006	0.012	0.54683	D	0.03	0.54541	D	0.966	0.56202	D	0.818	0.58969	P	0.002106	0.37227	N	0.297916	0.998507	0.22111	N	2.585	0.75554	M	0.47	0.56114	T	-2.58	0.55662	D	0.31	0.35194	-0.8411	0.52573	T	0.224	0.58869	T	10	0.10795039	0.20075	T	0.020771	0.43429	T	0.080	0.23350	0.28	0.23483	0.082315109003	0.07666	0.3646269717332717	0.36376	0.430707571193	0.43302	0.362426877022	0.19739	T	0.03784	0.35631	T	-0.217849	0.18288	T	-0.453847	0.27272	T	0.698799252510071	0.40662	D	0.867913	0.56980	D	0.054714	0.10536	0.06761944	0.14014	0.054714	0.10536	0.06761944	0.14014	-3.019	0.10387	T	.	.	0.085	0.10062	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.182591	0.27823	17.59	0.99429908403641143	0.64227	0.38716	0.26051	N	AEFBI	0.099981	0.20115	N	-0.259740333871238	0.30715	1.715343	-0.408723666707068	0.24741	1.356537	0.00238798879601208	0.09378	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.82	1.56	0.22423	0.396000	0.20592	1.422000	0.26372	-0.230000	0.07744	0.052000	0.21487	0.037000	0.21475	0.702000	0.34203	0.2707:0.4812:0.2481:0.0	9.509	0.38230	561	0.71236	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	856.43	34	chr1	203847483	.	C	T	856.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.189;DP=376;ExcessHet=0;FS=8.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=0;QD=12.06;ReadPosRankSum=0.518;SOR=0.545	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	9	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,20:144:7:0|1:204444146_C_T:7,0,4044:204444146	3	0	7	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	438.75	150	chr1	204444147	.	A	G	438.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.263;DP=1122;ExcessHet=1.5895;FS=176.128;InbreedingCoeff=-0.2371;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.71;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,20:144:7:0|1:204444146_C_T:7,0,4044:204444146	6	0	4	0
chr1	205053205	205053205	G	T	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon2:c.G20T:p.R7M,CNTN2:NM_005076:exon2:c.G20T:p.R7M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0150600083715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.057	0.46406	T	0.07	0.23866	B	0.058	0.26451	B	0.348325	0.13855	N	0.594604	0.999996	0.08975	N	0	0.06538	N	-0.04	0.63240	T	1.26	0.00998	N	0.255	0.28849	-0.9931	0.31801	T	0.104	0.38316	T	10	0.084843755	0.14262	T	0.01506	0.35570	T	0.052	0.14661	0.454	0.51775	0.748752765597	0.74648	0.5783446269127932	0.57763	0.597040875348	0.54914	0.369110524654	0.20705	T	0.065777	0.32776	T	-0.099199	0.36555	T	-0.380269	0.35689	T	0.0767205281238982	0.09563	T	0.467953	0.13790	T	0.06574925	0.14082	0.05946331	0.11164	0.06574925	0.14081	0.05946331	0.11163	-4.707	0.33489	T	.	.	0.471	0.63988	A	.;.;.	.;.;.	2.373680	0.30458	18.44	0.93337183500469734	0.23065	0.59348	0.30890	D	AEFDBI	0.087439	0.17729	N	-0.567417554100017	0.19941	1.047545	-0.473153445304044	0.22897	1.245925	0.206824308560145	0.18191	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.79	2.49	0.29274	0.494000	0.22175	3.746000	0.39667	0.676000	0.76740	0.955000	0.33325	1.000000	0.68203	0.770000	0.36519	0.1533:0.2061:0.6406:0.0	4.679	0.12109	381	0.83684	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	339.43	34	chr1	205053205	.	G	T	339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=335;ExcessHet=0;FS=1.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.593;SOR=1.148	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1058	9	0	1	0
chr1	205059101	205059101	C	T	exonic	CNTN2	.	nonsynonymous SNV	CNTN2:NM_001346083:exon6:c.C505T:p.L169F,CNTN2:NM_005076:exon6:c.C505T:p.L169F	.	418	1101	3	0	0	3	0.00136054	.	.	.	439204	not_provided|Epilepsy,_familial_adult_myoclonic,_5|CNTN2-related_disorder	MedGen:C3661900|MONDO:MONDO:0014167,MedGen:C3809374,OMIM:615400,Orphanet:86814|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00369706114344	0.0031	0.00259585	0.0027	0.0007	0.0018	0	0.0005	0.0041	0.0011	0.0010	0.0027749	429	154602	rs142502980	0.0033	0.0033	0.0033	0.0033	0.0040	0.0032	0.0032	0.0039	0.0039	0.0006	0.0023	0.0005	5.038e-05	0.0005	0.0019	0.0040	0.0021	0.0010	0.0022	0.0023	0.0024	0.0021	0.0041	0.0020	0.0020	0.0037	0.0036	0.0006	0.0022	0.0012	0.0006	0	0.0003	0	0.0041	0.0014	0.0010	0.213	0.19430	T	0.34	0.18018	T	0.06	0.23119	B	0.032	0.22131	B	0.005115	0.33089	N	0.137433	0.999727	0.48557	D	0.825	0.20901	L	3.96	0.03354	T	-1.71	0.40660	N	0.268	0.30347	-0.9416	0.42362	T	0.008	0.02801	T	10	0.009752125	0.00219	T	0.003697	0.08558	T	0.044	0.11924	.	.	0.484545746072	0.48084	0.6712492859374355	0.67062	0.519325346913	0.49757	0.538670659065	0.44257	T	0.155927	0.49788	T	-0.582369	0.00186	T	-0.604182	0.12462	T	0.0159896743891639	0.00381	T	0.877512	0.59164	D	0.3603698	0.57864	0.18809496	0.42080	0.34200135	0.56438	0.20767705	0.45035	-4.273	0.27797	T	.	.	0.508	0.64952	A	.;.;.	.;.;.	3.534479	0.49602	22.8	0.99222461520319372	0.55932	0.75429	0.36931	D	AEFDGBI	0.248604	0.36898	N	-0.144937957589112	0.35449	2.036392	-0.00876786967498507	0.39318	2.329366	0.0654260837766287	0.15360	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.95	3.95	0.44952	0.717000	0.25523	7.662000	0.64290	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.906:0.0:0.094	10.899	0.46252	369	0.84396	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1478.43	35	chr1	205059101	.	C	T	1478.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.775;DP=436;ExcessHet=0;FS=2.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.197;SOR=0.459	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr1	205419256	205419256	C	G	exonic	LEMD1	.	nonsynonymous SNV	LEMD1:NM_001001552:exon3:c.G179C:p.G60A,LEMD1:NM_001199050:exon3:c.G179C:p.G60A	.	428	1073	21	0	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0045	0.00339457	0.0051	0.0011	0.0078	0	0.0021	0.0067	0.0132	0.0026	0.005181	801	154602	rs35101083	0.0057	0.0057	0.0056	0.0059	0.0097	0.0056	0.0056	0.0077	0.0069	0.0009	0.0063	0.0157	0	0.0019	0.0097	0.0062	0.0064	0.0025	0.0045	0.0045	0.0047	0.0042	0.0063	0.0042	0.0041	0.0059	0.0057	0.0011	0	0.0063	0.0156	0.0002	0.0018	0.0170	0.0063	0.0090	0.0019	0.708	0.12920	T	0.547	0.09522	T	0.024	0.21357	B	0.008	0.18489	B	0.972672	0.07789	N	1.012970	1	0.08975	N	0.55	0.14455	N	0.87	0.46412	T	-1.64	0.48020	N	0.136	0.14196	-1.0225	0.22899	T	0.033	0.14117	T	10	0.0046049356	0.00096	T	.	.	.	0.064	0.18567	.	.	0.0551355673512	0.04727	0.10135018658236884	0.10066	0.163144533903	0.18410	0.234471648932	0.02315	T	0.008315	0.07645	T	-0.692402	0.00040	T	-0.759403	0.03134	T	0.0116881296088719	0.00179	T	0.629237	0.24459	T	0.029858613	0.02551	0.034413677	0.02506	0.029858613	0.02550	0.034413677	0.02505	-3.358	0.19008	T	.	.	0.097	0.15698	B	.;.;.;.	.;.;.;.	-0.261730	0.02790	0.380	0.25132979439354541	0.01144	0.02369	0.06743	N	AEFBI	0.056496	0.10450	N	-1.07349805446981	0.07135	0.330534	-1.06941394688075	0.08308	0.4078871	0.0148488406549552	0.12645	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.77	-0.747	0.10532	-0.517000	0.06360	-0.306000	0.10077	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.194000	0.21720	0.3048:0.2863:0.1899:0.2191	0.346	0.00317	863	0.32847	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014617	0.025253	0.016304	0.000000	0.000000	0.008621	0.033742	0.000000	0.05	712.43	35	chr1	205419256	.	C	G	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.296;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1190	9	0	1	0
chr1	205620327	205620327	G	A	exonic	ELK4	.	nonsynonymous SNV	ELK4:NM_001973:exon3:c.C719T:p.T240I,ELK4:NM_021795:exon3:c.C719T:p.T240I	.	428	1090	4	0	0	4	0.0018315	.	.	.	3238940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00485244182574	0.0002	.	0.0002	0	8.637e-05	0	0	0.0003	0	6.056e-05	0.0001811	28	154602	rs146453123	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	0	4.472e-05	0.0049	2.519e-05	0	0.0010	4.137e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	8.82e-05	0.0001	9.694e-05	3.762e-05	2.575e-05	0	0	6.535e-05	0.0043	0	0	0.0068	8.82e-05	0.0005	0	0.066	0.49613	T	0.2	0.46632	T	0.0	0.02946	B	0.0	0.04355	B	0.458014	0.04852	N	1.272640	1	0.08975	N	1.5	0.37844	L	1.74	0.31731	T	-1.28	0.32185	N	0.028	0.00618	-1.0018	0.29401	T	0.039	0.16978	T	10	0.0050910413	0.00110	T	0.004852	0.12161	T	0.027	0.05988	.	.	0.224531998449	0.22054	0.18705025350684212	0.18623	0.14465064476	0.16340	.	.	.	0.33817	0.70746	T	-0.555061	0.00272	T	-0.742935	0.03768	T	0.0195704961100207	0.00660	T	0.486851	0.16939	T	0.030451909	0.02712	0.047192045	0.06744	0.030451909	0.02712	0.047192045	0.06744	-3.937	0.22858	T	.	.	0.075	0.10159	B	.;.	.;.	0.937911	0.13134	9.636	0.94497110314111188	0.24967	0.11866	0.16912	N	AEFBI	0.062387	0.11989	N	-1.18915013707969	0.05163	0.2347327	-1.1800873126502	0.06243	0.2998965	0.795611876203697	0.24093	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	-0.806	0.10327	1.501000	0.35301	3.327000	0.37595	-0.153000	0.12021	0.004000	0.16614	0.437000	0.24884	0.074000	0.16894	0.2547:0.3465:0.3988:0.0	6.300	0.20315	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1373.43	33	chr1	205620327	.	G	A	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.106;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1240	9	0	1	0
chr1	205915010	205915010	C	T	exonic	SLC26A9	.	nonsynonymous SNV	SLC26A9:NM_134325:exon22:c.G2546A:p.R849Q	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0039	0.00758786	0.0076	0.0012	0.0028	0.0122	0.0011	0.0057	0.0066	0.0228	0.0072315	1118	154602	rs140760240	0.0060	0.0060	0.0053	0.0066	0.0283	0.0058	0.0058	0.0247	0.0234	0.0013	0.0038	0.0086	0.0104	0.0009	0.0283	0.0047	0.0069	0.0228	0.0046	0.0046	0.0046	0.0047	0.0155	0.0044	0.0042	0.0127	0.0117	0.0013	0	0.0041	0.0087	0.0133	0.0004	0.0102	0.0059	0.0047	0.0155	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.000003	0.00162	N	14.346700	1	0.08975	N	.	.	.	-3.25	0.93532	D	0.0	0.07008	N	0.071	0.04426	-0.3220	0.74366	T	0.403	0.75338	T	10	0.0027073324	0.00042	T	.	.	.	0.300	0.62068	.	.	0.194818534648	0.19098	0.01893306541877592	0.01847	0.157990632338	0.17844	0.204608500004	0.00603	T	.	.	.	-0.420421	0.01699	T	-0.359096	0.38158	T	0.0319549881320626	0.02299	T	0.394461	0.09873	T	.	.	.	.	.	.	.	.	-2.854	0.08691	T	.	.	0.086	0.10931	B	.;.	.;.	0.554397	0.09227	6.012	0.63638908723729615	0.07277	0.03938	0.09333	N	AEFGBI	0.081607	0.16514	N	-1.3979216659568	0.02658	0.1176788	-1.38142597711257	0.03449	0.1609509	0.992175131580337	0.32745	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.59	2.76	0.31527	0.003000	0.12984	0.330000	0.17274	-1.718000	0.00733	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.9104:0.0:0.0896	12.608	0.55889	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.005051	0.020380	0.023392	0.000000	0.034483	0.018293	0.011364	0.05	2734.43	39	chr1	205915010	.	C	T	2734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=638;ExcessHet=0;FS=3.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.343;SOR=0.503	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr1	206937104	206937104	C	T	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon4:c.G1036A:p.V346I	.	417	1073	30	2	0	34	0.0155963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00933196404289	0.0043	0.00279553	0.0052	0.0016	0.0029	0.0002	0.0005	0.0074	0.0038	0.0045	0.0048318	747	154602	rs12748810	0.0052	0.0052	0.0051	0.0052	0.0107	0.0051	0.0050	0.0086	0.0078	0.0009	0.0038	0.0133	0.0001	0.0009	0.0107	0.0057	0.0052	0.0025	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0054	0.0052	0.0013	0.0319	0.0029	0.0118	0.0002	0.0005	0.0204	0.0059	0.0062	0.0021	0.172	0.22660	T	0.092	0.39954	T	0.959	0.55135	D	0.344	0.42549	B	0.000454	0.44317	N	0.098719	0.646236	0.32921	D	1.545	0.39105	L	2.3	0.16953	T	-0.58	0.17417	N	0.099	0.08088	-0.9996	0.30030	T	0.029	0.12409	T	10	0.005029261	0.00108	T	0.009332	0.24483	T	0.072	0.21020	.	.	0.189391138174	0.18552	0.4810212973730127	0.48022	0.426954359613	0.43058	0.376184433699	0.21714	T	0.174517	0.52377	T	-0.666129	0.00058	T	-0.724497	0.04581	T	0.0185711887291415	0.00572	T	0.661834	0.27067	T	0.091067985	0.21330	0.051946834	0.08461	0.091067985	0.21329	0.051946834	0.08461	-5.41	0.41016	T	.	.	0.082	0.08899	B	.	.	2.155181	0.27454	17.47	0.99591695879643904	0.73631	0.29423	0.23817	N	AEFBI	0.158394	0.28405	N	0.005644445633114	0.42111	2.531223	-0.0272485895640157	0.38489	2.268321	0.93774651646716	0.27311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	0.074000	0.14525	-0.668000	0.07948	0.599000	0.40250	0.028000	0.20300	0.000000	0.08366	0.750000	0.35786	0.0:0.8245:0.0:0.1755	8.417	0.31840	798	0.45050	Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.010101	0.006793	0.005848	0.000000	0.008621	0.027439	0.018939	0.05	1532.43	61	chr1	206937104	.	C	T	1532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.673;DP=484;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.675;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1206	9	0	1	0
chr1	206962372	206962372	G	A	exonic	FCAMR	.	nonsynonymous SNV	FCAMR:NM_001170631:exon5:c.C493T:p.R165C,FCAMR:NM_032029:exon5:c.C493T:p.R165C,FCAMR:NM_001122979:exon6:c.C493T:p.R165C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0512377649051	.	.	8.314e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs758204600	9.577e-06	9.577e-06	8.167e-06	1.1e-05	4.637e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	8.093e-06	1.656e-05	4.637e-05	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.052	0.39097	T	0.184	0.44905	T	.	.	.	.	.	.	0.223075	0.03468	N	1.507100	1	0.08975	N	.	.	.	-0.3	0.67874	T	-2.97	0.61865	D	0.185	0.21188	-0.6177	0.64084	T	0.396	0.74844	T	10	0.20662981	0.36930	T	0.051238	0.64577	D	0.216	0.50959	.	.	0.526437037968	0.52289	0.6081862795713341	0.60750	0.620349452751	0.56349	0.250639975071	0.03835	T	0.164869	0.51050	T	-0.276741	0.11016	T	-0.453768	0.27282	T	0.424688458442688	0.29864	T	0.690331	0.29972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.49874	B	.;.;.	.;.;.	1.836694	0.23336	15.98	0.99462150824483686	0.65840	0.02222	0.06464	N	AEFDGBI	0.160638	0.28660	N	-0.503484355098186	0.21967	1.169643	-0.736537112248412	0.16054	0.8474439	0.999924673144772	0.46280	0.487112	0.14033	0	0.491513	0.07743	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.6	-1.78	0.07527	-0.439000	0.06967	-0.164000	0.11293	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5217:0.221:0.2574	9.565	0.38556	816	0.41767	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1945.43	35	chr1	206962372	.	G	A	1945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.094;DP=499;ExcessHet=0;FS=1.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.148;SOR=0.639	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr1	207025002	207025002	C	G	exonic	C1orf116	.	nonsynonymous SNV	C1orf116:NM_023938:exon3:c.G168C:p.E56D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0284144830366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.102	0.38450	T	.	.	.	.	.	.	0.000000	0.84330	D	0.045540	0.701582	0.81001	D	.	.	.	1.79	0.25509	T	-2.87	0.60348	D	0.565	0.58883	-1.0827	0.06833	T	0.104	0.38094	T	10	0.3049235	0.48012	T	0.028414	0.51097	D	0.156	0.40720	0.096	0.01287	0.0884992946249	0.08302	0.1943030029145293	0.19348	0.326756471152	0.34813	.	.	.	.	.	.	-0.119923	0.33136	T	-0.410037	0.32220	T	0.983683526515961	0.75260	D	0.854215	0.54045	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.61628	A	.	.	3.047744	0.40881	21.3	0.99747555661729959	0.84002	0.87236	0.46715	D	ALL	0.407205	0.47938	N	0.0328592254781185	0.43355	2.630027	-0.0522846757678888	0.37392	2.188683	0.999999707817542	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.584781	0.30282	0	0.542086	0.14980	0	.	.	5.12	-0.0744	0.13064	0.606000	0.23891	0.613000	0.20051	-0.182000	0.10109	1.000000	0.71638	0.998000	0.33993	0.928000	0.46473	0.0:0.4324:0.0:0.5676	9.722	0.39472	784	0.47045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	789.43	35	chr1	207025002	.	C	G	789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.833;DP=383;ExcessHet=0;FS=8.08;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.011;SOR=0.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1225	9	0	1	0
chr1	207124277	207124277	G	A	exonic	C4BPA	.	nonsynonymous SNV	C4BPA:NM_000715:exon6:c.G617A:p.R206H	.	.	.	.	.	.	.	.	.	.	.	2229325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.0164804993988	0.0005	0.000399361	0.0004	0.0005	0.0002	0.0001	0	0.0005	0	0.0003	0.0003493	54	154602	rs140603272	0.0005	0.0005	0.0005	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	8.964e-05	0.0003	0	5.039e-05	7.492e-05	0	0.0007	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0004	0	0	0	0	0.0005	0	0.0002	0.643	0.04957	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.009232	0.01233	N	2.411950	1	0.08975	N	-0.385	0.03041	N	-0.09	0.64086	T	1.7	0.00577	N	0.098	0.07949	-0.9785	0.35345	T	0.083	0.32470	T	10	0.03074786	0.01203	T	0.01648	0.37757	T	0.151	0.39764	.	.	0.0482279557977	0.04254	0.4641901875705783	0.46338	0.312007655929	0.33502	0.195779830217	0.00344	T	0.026801	0.19761	T	-0.482443	0.00716	T	-0.592381	0.13459	T	0.00986038477615006	0.00130	T	0.144386	0.01177	T	0.013631302	0.00065	0.018942848	0.00071	0.013631302	0.00065	0.018942848	0.00071	-1.826	0.02588	T	.	.	0.083	0.09191	B	.	.	-0.350715	0.02404	0.268	0.87143972903899247	0.17019	0.00635	0.02785	N	AEFBI	0.486070	0.52540	N	-1.97853598734102	0.00235	0.01008187	-2.0532773943336	0.00235	0.01037053	0.999999633027575	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	-11.4	0.00070	-0.446000	0.06910	-5.919000	0.01553	-1.593000	0.00903	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3083:0.1075:0.4986:0.0857	6.930	0.23613	614	0.66605	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1500.43	41	chr1	207124277	.	G	A	1500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.055;DP=621;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.048;SOR=0.6	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	9	0	1	0
chr1	207717539	207717539	G	A	exonic	CR1L	.	nonsynonymous SNV	CR1L:NM_175710:exon11:c.G1490A:p.G497E	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.0240218992012	0.0028	0.000798722	0.0022	0.0003	0.0007	0	0.0008	0.0031	0.0022	0.0027	0.0021022	325	154602	rs186427145	0.0025	0.0025	0.0025	0.0025	0.0028	0.0024	0.0024	0.0027	0.0027	0.0002	0.0007	0.0028	2.519e-05	0.0010	0.0009	0.0028	0.0022	0.0026	0.0017	0.0017	0.0021	0.0014	0.0031	0.0015	0.0015	0.0028	0.0026	0.0003	0	0.0005	0.0023	0	0.0011	0	0.0031	0.0019	0.0017	0.003	0.68238	D	0.0	0.92824	D	0.998	0.73220	D	0.962	0.70672	D	.	.	.	.	0.901532	0.27690	N	3.365	0.91266	M	-0.65	0.72237	T	-5.48	0.85692	D	0.671	0.67908	-0.3510	0.73524	T	0.465	0.79340	T	9	0.060646117	0.07482	T	0.024022	0.47001	T	0.424	0.73226	.	.	0.542808479177	0.53935	0.256220782512593	0.25536	0.662919153663	0.59002	0.32508045435	0.14191	T	0.049615	0.28359	T	-0.259814	0.12921	T	-0.149659	0.59275	T	0.0453611331822632	0.04668	T	0.535446	0.17943	T	0.38793644	0.59885	0.36811057	0.62107	0.38793644	0.59886	0.36811057	0.62106	-11.068	0.80029	D	.	.	0.157	0.34624	B	.	.	3.402943	0.47165	22.4	0.99374803517158505	0.61628	0.88545	0.48522	D	AEFBI	0.231576	0.35478	N	0.415654329274182	0.62281	4.441589	0.22934265178221	0.51481	3.330362	0.00471475255160148	0.10684	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.01	3.01	0.33872	4.379000	0.59342	5.361000	0.48400	0.368000	0.20244	1.000000	0.71638	1.000000	0.68203	0.301000	0.24523	0.0:0.0:1.0:0.0	10.123	0.41804	884	0.28482	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2160.43	38	chr1	207717539	.	G	A	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.04;DP=528;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.29;MQRankSum=3.78;QD=10.91;ReadPosRankSum=-0.857;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	9	0	1	0
chr1	208216911	208216911	T	C	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.A1012G:p.I338V	.	431	1090	1	0	0	1	0.000458505	.	.	.	3510870	PLXNA2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00331463948968	.	.	4.948e-05	0.0002	0	0	0	6.003e-05	0	0	4.53e-05	7	154602	rs150144401	5.951e-05	5.951e-05	6.398e-05	5.5e-05	0.0003	4.882e-05	4.561e-05	6.092e-05	5.11e-05	5.974e-05	4.472e-05	0	0	0	0.0003	6.834e-05	4.967e-05	2.319e-05	5.258e-05	5.254e-05	5.14e-05	5.381e-05	6.543e-05	2.558e-05	1.83e-05	1.972e-05	1.124e-05	4.828e-05	0	6.543e-05	0	0	0	0	5.88e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000435	0.44522	N	0.172506	0.993058	0.41822	D	-0.725	0.01781	N	4.28	0.02487	T	0.34	0.03824	N	0.083	0.05929	-0.9516	0.40695	T	0.003	0.01059	T	10	0.10079932	0.18379	T	0.003315	0.07359	T	0.083	0.24192	.	.	0.171220215726	0.16700	0.44210080105281213	0.44127	0.469490655894	0.46258	0.506237983704	0.39696	T	0.052257	0.29110	T	-0.392855	0.02578	T	-0.620557	0.11142	T	0.0395369671633047	0.03606	T	0.814119	0.46793	T	0.04734651	0.08078	0.055646274	0.09800	0.04734651	0.08078	0.055646274	0.09800	0.777	0.00163	T	0.03441546307926692	0.00167	0.064	0.01762	B	.	.	1.160197	0.15492	11.89	0.79337267346435725	0.12696	0.67693	0.33525	D	AEFDBHCI	0.159797	0.28565	N	-0.658941422504858	0.17200	0.8830583	-0.37534523371916	0.25733	1.417039	0.999999981298909	0.74766	0.722319	0.85440	0	0.615948	0.52940	0	0.725225	0.93170	0	0.735409	0.98432	0	.	.	5.69	4.57	0.55860	1.026000	0.29708	1.503000	0.26970	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1474:0.0:0.8526	8.492	0.32266	790	0.46189	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2440.14	48	chr1	208216911	.	T	C	2440.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.08;DP=679;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=1.27;SOR=0.724	GT:AD:DP:GQ:PL	0/1:67,49:116:99:1198,0,1613	8	0	2	0
chr1	208217558	208217558	G	T	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.C365A:p.S122Y	.	426	1067	27	2	0	31	0.0143187	.	.	.	696429	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	0.00737051131181	0.0062	0.00299521	0.0060	0.0018	0.0030	0	0.0021	0.0093	0.0066	0.0021	0.0060737	939	154602	rs142871447	0.0077	0.0077	0.0077	0.0077	0.0125	0.0076	0.0075	0.0102	0.0093	0.0012	0.0058	0.0142	2.519e-05	0.0048	0.0125	0.0087	0.0073	0.0021	0.0061	0.0061	0.0062	0.0059	0.0095	0.0057	0.0056	0.0088	0.0086	0.0014	0.0077	0.0058	0.0158	0.0004	0.0036	0.0170	0.0095	0.0095	0.0012	0.008	0.58626	D	0.014	0.62352	D	0.952	0.54136	P	0.767	0.56720	P	0.000094	0.51296	D	0.135562	1	0.81001	D	0.73	0.18813	N	2.73	0.11839	T	-2.41	0.52938	N	0.52	0.55019	-1.1622	0.00705	T	0.045	0.19152	T	10	0.008282691	0.00188	T	0.007371	0.19550	T	0.334	0.65620	.	.	0.102598925029	0.09809	0.5853683915594246	0.58465	0.995737323308	0.74226	0.763034939766	0.76383	T	0.260073	0.63141	T	-0.394889	0.02500	T	-0.332045	0.41242	T	0.0452595234057308	0.04650	T	0.958704	0.84427	D	0.18998721	0.40565	0.23046508	0.48150	0.1957096	0.41371	0.23046508	0.48149	-6.21	0.48004	T	0.17918725729765989	0.23002	0.146	0.32178	B	.	.	4.579227	0.72322	25.8	0.99346056782240144	0.60371	0.99328	0.94563	D	AEFDBI	0.912353	0.87287	D	0.688757023873595	0.78896	6.964743	0.74609764330399	0.85866	8.709884	1.0	0.98316	0.722319	0.85440	0	0.59043	0.45803	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.71	5.71	0.89031	9.638000	0.97833	11.916000	0.99706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.85	0.96733	796	0.45353	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.010101	0.013587	0.000000	0.000000	0.008621	0.018293	0.011364	0.05	1861.43	48	chr1	208217558	.	G	T	1861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.591;DP=628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.619;SOR=0.663	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	9	0	1	0
chr1	210242275	210242275	C	T	exonic	SERTAD4	.	nonsynonymous SNV	SERTAD4:NM_001375428:exon4:c.C1009T:p.R337W,SERTAD4:NM_019605:exon4:c.C1009T:p.R337W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0541241256176	7.7e-05	0.000199681	3.391e-05	0	8.684e-05	0	0	4.577e-05	0	0	3.23e-05	5	154602	rs150924683	3.229e-05	3.283e-05	2.87e-05	3.592e-05	7.564e-05	2.488e-05	2.23e-05	2.373e-05	2.106e-05	0	0	3.868e-05	7.564e-05	5.628e-05	0	3.242e-05	3.329e-05	2.364e-05	6.57e-05	6.564e-05	3.856e-05	9.408e-05	9.635e-05	3.516e-05	2.616e-05	3.245e-05	1.912e-05	9.635e-05	0	6.539e-05	0	0	0	0	5.882e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000041	0.53742	D	0.069314	0.571677	0.31173	N	1.1	0.28011	L	.	.	.	-2.58	0.55662	D	0.534	0.56231	-0.5695	0.66035	T	0.196	0.54970	T	9	0.33685237	0.50818	T	0.054124	0.65736	D	0.194	0.47447	.	.	0.296721761885	0.29290	0.1541236550209343	0.15333	0.477105544742	0.46828	0.428991615772	0.29071	T	0.041269	0.25801	T	0.00467227	0.52297	T	-0.0387294	0.67786	D	0.86657452583313	0.51663	D	.	.	.	0.33447877	0.55835	0.32694688	0.58597	0.33447877	0.55835	0.32694688	0.58596	-4.544	0.31460	T	.	.	0.252	0.48705	B	.	.	2.899433	0.38424	20.7	0.99820540301389982	0.90326	0.64570	0.32450	D	AEFBI	0.439350	0.49836	N	0.0845030963705251	0.45741	2.82557	0.0675926181069465	0.42930	2.60547	0.836539636414021	0.24789	0.615465	0.37627	0	0.59043	0.45803	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.84	1.98	0.25351	0.710000	0.25421	1.639000	0.27781	-0.763000	0.03499	0.945000	0.32849	0.791000	0.26863	0.817000	0.38496	0.4936:0.5064:0.0:0.0	15.370	0.74277	699	0.57969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	433.43	42	chr1	210242275	.	C	T	433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=-0.499;SOR=0.56	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,117,1755	9	0	1	0
chr1	211982792	211982792	G	A	exonic	INTS7	.	nonsynonymous SNV	INTS7:NM_001199809:exon8:c.C869T:p.P290L,INTS7:NM_001199811:exon9:c.C1016T:p.P339L,INTS7:NM_001199812:exon9:c.C1016T:p.P339L,INTS7:NM_015434:exon9:c.C1016T:p.P339L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.012703817826	.	.	1.669e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs775173317	1.444e-05	1.642e-05	9.573e-06	1.936e-05	0.0003	9.28e-06	7.88e-06	9.048e-05	7.178e-05	0	0	0	0	0	0.0003	2.707e-06	4.992e-05	0.0002	6.578e-06	6.569e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.311	0.14064	T	0.311	0.19660	T	0.02	0.23796	B	0.018	0.25278	B	0.000001	0.62929	D	0.102170	1	0.81001	D	1.355	0.33814	L	1.88	0.66474	T	-1.48	0.42763	N	0.075	0.10340	-0.9409	0.42473	T	0.165	0.50193	T	10	0.08383989	0.13988	T	0.012704	0.31501	T	0.132	0.35948	0.421	0.46365	0.209943299407	0.20609	0.3016576634856587	0.30078	0.196277439007	0.21984	0.451791793108	0.32188	T	0.014892	0.12595	T	-0.142226	0.29536	T	-0.236569	0.51133	T	0.167642707728685	0.18418	T	0.854015	0.53996	D	0.13568051	0.31481	0.15746726	0.36819	0.13568051	0.31481	0.15746726	0.36818	-2.541	0.08682	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	2.814979	0.37065	20.4	0.95153481383984562	0.26290	0.77580	0.38161	D	AEFBI	0.293829	0.40436	N	-0.2788604424952	0.29965	1.666548	-0.0650627158216376	0.36846	2.149531	0.999999999985075	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.84	5.84	0.93373	3.693000	0.54467	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.135	0.98019	675	0.60470	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	661.43	36	chr1	211982792	.	G	A	661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.944;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.883;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	9	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	169.58	83	chr1	212100360	.	A	G	169.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.766;DP=989;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2414;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:89,14:103:21:0|1:212100360_A_G:0,21,3394:212100360	6	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	174.52	80	chr1	212100361	.	C	G	174.52	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.522;DP=993;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.3237;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:89,14:103:21:0|1:212100360_A_G:0,21,3394:212100360	4	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	169.62	83	chr1	212100362	.	C	G	169.62	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.832;DP=867;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2424;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.66;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:89,14:103:21:0|1:212100360_A_G:0,21,3394:212100360	6	0	4	0
chr1	212386906	212386906	G	A	exonic	PACC1	.	nonsynonymous SNV	PACC1:NM_001377479:exon3:c.C97T:p.R33C,PACC1:NM_001377480:exon3:c.C328T:p.R110C,PACC1:NM_018252:exon3:c.C328T:p.R110C,PACC1:NM_001198862:exon4:c.C511T:p.R171C	.	0	225	1	0	0	1	0.00221729	.	.	.	3371462	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00597624126183	0.0015	0.000199681	0.0007	0.0003	0.0003	0	0	0.0011	0	0	0.0008279	128	154602	rs148063790	0.0017	0.0017	0.0018	0.0017	0.0022	0.0017	0.0017	0.0021	0.0021	0.0003	0.0003	0.0003	0	0.0002	0	0.0022	0.0013	1.16e-05	0.0009	0.0009	0.0010	0.0008	0.0018	0.0008	0.0007	0.0015	0.0014	0.0002	0	0.0001	0	0.0002	0.0003	0	0.0018	0.0009	0	0.038	0.49117	D	0.075	0.42794	T	0.77	0.43887	P	0.172	0.35394	B	0.165125	0.17541	N	0.604283	0.964437	0.38407	D	1.1	0.28011	L	.	.	.	-2.92	0.61129	D	0.371	0.41261	-0.9769	0.35705	T	0.113	0.40238	T	9	0.025043458	0.00711	T	0.005976	0.15579	T	0.061	0.17616	.	.	0.0986583533028	0.09354	0.44215979616445295	0.44132	0.78222353086	0.65352	0.588747084141	0.51317	T	0.183871	0.53635	T	-0.349519	0.04757	T	-0.277257	0.47083	T	0.0760992206022392	0.09481	T	0.964603	0.86885	D	0.08806088	0.20530	0.10308679	0.24726	0.08806088	0.20530	0.10308679	0.24726	-4.283	0.30296	T	.	.	0.135	0.37820	B	.;.	.;.	3.969305	0.58269	24.0	0.9966859229579097	0.78458	0.77233	0.37951	D	AEFDBI	0.148125	0.27194	N	0.246434616006751	0.53463	3.515002	0.317110585257323	0.56546	3.817948	0.0683779970615934	0.15456	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.97	4.0	0.45673	1.873000	0.39195	8.566000	0.77586	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.0933:0.0:0.5481:0.3586	6.693	0.22372	811	0.42639	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	782.43	33	chr1	212386906	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.527;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.12;SOR=0.682	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr1	212797191	212797191	C	A	exonic	TATDN3	.	nonsynonymous SNV	TATDN3:NM_001042552:exon4:c.C253A:p.L85I,TATDN3:NM_001042553:exon4:c.C253A:p.L85I,TATDN3:NM_001146169:exon4:c.C253A:p.L85I,TATDN3:NM_001146170:exon4:c.C253A:p.L85I,TATDN3:NM_001146171:exon4:c.C253A:p.L85I,TATDN3:NM_001363589:exon4:c.C253A:p.L85I,TATDN3:NM_001363590:exon4:c.C253A:p.L85I	.	433	1067	22	0	0	22	0.0102041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00326930800444	0.0007	0.000798722	0.0018	0	0.0007	0	0	0.0017	0.0011	0.0058	0.0015459	239	154602	rs148528899	0.0010	0.0010	0.0009	0.0011	0.0069	0.0010	0.0009	0.0052	0.0046	2.99e-05	0.0011	0.0201	0	0	0.0069	0.0003	0.0022	0.0043	0.0011	0.0011	0.0012	0.0011	0.0041	0.0010	0.0009	0.0027	0.0023	7.22e-05	0	0.0006	0.0204	0	0	0.0170	0.0008	0.0033	0.0041	0.141	0.27663	T	0.347	0.38160	T	0.009	0.15093	B	0.048	0.24975	B	0.020455	0.27037	N	0.295883	0.996626	0.81001	D	1.795	0.47270	L	.	.	.	-0.81	0.23808	N	0.394	0.50958	-1.0238	0.22476	T	0.152	0.48014	T	9	0.006371498	0.00144	T	0.003269	0.07237	T	0.082	0.23913	.	.	0.0954503805726	0.09146	0.623218878501826	0.62254	0.174648314704	0.19666	0.499033182859	0.38693	T	0.008201	0.16921	T	-0.350873	0.04673	T	-0.275553	0.47257	T	0.0114096309289719	0.00170	T	0.809319	0.48487	T	0.07326356	0.16360	0.0474131	0.06822	0.07326356	0.16359	0.0474131	0.06822	-5.271	0.39933	T	.	.	0.124	0.39562	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.979270	0.25141	16.66	0.97411810932922427	0.33830	0.68581	0.33856	D	AEFBI	0.187202	0.31449	N	-0.214285823766396	0.32546	1.836683	-0.165880246943213	0.32802	1.869798	0.988914815572001	0.31667	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.66	1.81	0.24139	1.819000	0.38660	1.802000	0.28890	-0.177000	0.10537	0.987000	0.36337	0.989000	0.31174	0.995000	0.73285	0.0:0.1646:0.1562:0.6793	4.966	0.13438	844	0.36711	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.010101	0.006793	0.005848	0.000000	0.000000	0.000000	0.018939	0.05	1249.43	36	chr1	212797191	.	C	A	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.717;DP=438;ExcessHet=0;FS=1.918;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.257;SOR=0.44	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	212815137	212815137	G	A	exonic	TATDN3	.	nonsynonymous SNV	TATDN3:NM_001146170:exon9:c.G743A:p.R248Q,TATDN3:NM_001042552:exon10:c.G806A:p.R269Q,TATDN3:NM_001042553:exon10:c.G803A:p.R268Q,TATDN3:NM_001146171:exon10:c.G827A:p.R276Q	.	432	1080	7	3	0	13	0.00598251	.	.	.	2335827	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.000985607636526	0.0007	0.000599042	0.0009	0.0003	0.0006	0	0.0002	0.0011	0.0022	0.0009	0.0008215	127	154602	rs147372063	0.0009	0.0009	0.0009	0.0009	0.0108	0.0008	0.0008	0.0086	0.0079	0.0003	0.0013	0.0030	0	0.0004	0.0108	0.0009	0.0011	0.0005	0.0009	0.0009	0.0008	0.0010	0.0022	0.0008	0.0007	0.0016	0.0014	0.0002	0	0.0022	0.0032	0	0	0.0102	0.0011	0.0014	0.0006	0.614	0.06564	T	0.517	0.10572	T	0.001	0.09854	B	0.0	0.01387	B	0.181233	0.17097	N	0.608178	1	0.08975	N	-0.515	0.02571	N	.	.	.	-0.29	0.11728	N	0.069	0.07673	-1.0536	0.13413	T	0.039	0.16720	T	9	0.0033646524	0.00059	T	9.86E-4	0.01026	T	0.109	0.30843	.	.	0.0297737177859	0.01360	0.36654171013608455	0.36568	0.179838566687	0.20231	0.18971529603	0.00220	T	0.005715	0.05159	T	-0.671875	0.00054	T	-0.773256	0.02663	T	0.00121056492837249	0.00012	T	0.708829	0.31953	T	0.05865441	0.11828	0.072507404	0.15650	0.05865441	0.11827	0.072507404	0.15649	-3.309	0.26272	T	.	.	0.075	0.06803	B	.;.;.;.	.;.;.;.	-0.896546	0.00931	0.035	0.86435292909977635	0.16534	0.00563	0.02562	N	AEFDGBHCI	0.051600	0.09133	N	-1.62350495688705	0.01152	0.05004684	-1.65898525637239	0.01330	0.06002147	0.999999732398993	0.74766	0.758104	0.99027	0	0.724815	0.89359	0	0.724815	0.87919	0	0.665031	0.64506	0	.	.	5.3	-9.4	0.00521	-0.469000	0.06725	-4.712000	0.02021	-1.376000	0.01165	0.000000	0.06391	0.000000	0.08366	0.402000	0.26827	0.7584:0.0:0.2416:0.0	18.629	0.91307	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.000000	0.006793	0.005848	0.000000	0.000000	0.006098	0.015152	0.05	632.43	33	chr1	212815137	.	G	A	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.827;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.81;ReadPosRankSum=-1.285;SOR=0.777	GT:AD:DP:GQ:PL	0/1:49,32:81:99:644,0,1150	9	0	1	0
chr1	213996668	213996668	A	G	exonic	PROX1	.	nonsynonymous SNV	PROX1:NM_001270616:exon2:c.A133G:p.M45V,PROX1:NM_002763:exon2:c.A133G:p.M45V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0461812839483	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1454202090	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.53788	D	0.099	0.25639	B	0.09	0.29851	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.52	0.56281	T	-1.96	0.45404	N	0.744	0.74918	-0.8626	0.51075	T	0.171	0.51213	T	10	0.6542424	0.69780	D	0.046181	0.62338	D	0.258	0.56959	0.724	0.85850	0.802774861988	0.80093	0.6931374087865204	0.69253	0.897243406759	0.70500	0.705389082432	0.67924	T	0.286357	0.65914	T	0.0805959	0.62109	D	-0.122006	0.61638	T	0.799307346343994	0.46306	D	0.90311	0.66112	D	0.5420779	0.69513	0.54913414	0.73933	0.5420779	0.69514	0.54913414	0.73934	-2.26	0.04341	T	.	.	0.131	0.30264	B	.;.;.;.;.;.	.;.;.;.;.;.	4.026974	0.59515	24.1	0.97893849019102142	0.36690	0.98734	0.86169	D	AEFDGBI	0.949606	0.96241	D	0.266592943358444	0.54465	3.612	0.436010689901095	0.63822	4.623953	0.999999999999976	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.77	5.77	0.91077	8.867000	0.91934	11.225000	0.89902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.395	0.83423	930	0.16408	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1688.43	35	chr1	213996668	.	A	G	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.997;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.298;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	9	0	1	0
chr1	214641961	214641961	C	T	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.C3623T:p.A1208V	Stromme syndrome, Autosomal recessive	439	1053	29	1	0	31	0.0145063	.	.	.	427695	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.178	.	0.0052	0.00499201	0.0114	0.0013	0.0034	0	0.0590	0.0122	0.0302	0.0049	0.0101357	1567	154602	rs114717799	0.0089	0.0089	0.0089	0.0088	0.0264	0.0087	0.0087	0.0230	0.0217	0.0015	0.0053	0.0040	5.047e-05	0.0547	0.0264	0.0077	0.0084	0.0051	0.0098	0.0098	0.0081	0.0116	0.0094	0.0094	0.0092	0.0088	0.0086	0.0014	0	0.0076	0.0049	0	0.0579	0.0102	0.0094	0.0085	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.703	0.41913	P	0.072	0.28043	B	0.890391	0.08691	N	0.931128	1	0.08975	N	.	.	.	3.96	0.03354	T	-1.24	0.31375	N	0.028	0.00618	-1.0210	0.23389	T	0.002	0.00707	T	9	0.0026867688	0.00042	T	.	.	.	0.178	0.44724	.	.	.	.	0.05135879761021875	0.05077	0.0533753117732	0.05882	0.255381524563	0.04355	T	0.018359	0.14816	T	-0.733312	0.00023	T	-0.813804	0.01581	T	0.00720192549576328	0.00082	T	0.572743	0.20478	T	0.0153380595	0.00134	0.039670035	0.04115	0.0153380595	0.00134	0.039670035	0.04114	-4.478	0.30600	T	.	.	0.116	0.23290	B	.	.	1.207309	0.16000	12.25	0.16453813836953438	0.00442	0.29893	0.23941	N	AEFBCIJ	0.036139	0.04766	N	-0.99948591475944	0.08614	0.4046039	-1.02120673192991	0.09320	0.4629789	0.8625609320024	0.25254	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.41	0.28644	1.614000	0.36522	0.120000	0.14904	-1.900000	0.00525	0.391000	0.26096	0.000000	0.08366	0.086000	0.17578	0.0:0.6584:0.0:0.3416	7.694	0.27747	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.018127	0.000000	0.025815	0.020468	0.000000	0.025862	0.012195	0.018939	0.05	1135.43	34	chr1	214641961	.	C	T	1135.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.565;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.5;SOR=0.613	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1165	9	0	1	0
chr1	214644948	214644948	G	A	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.G5378A:p.R1793H	Stromme syndrome, Autosomal recessive	428	1090	4	0	0	4	0.0018315	.	.	.	707082	CENPF-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00779992111407	0.0023	0.000798722	0.0022	0.0008	0.0025	0	0.0012	0.0032	0	0.0004	0.0022509	348	154602	rs143725699	0.0030	0.0030	0.0031	0.0029	0.0035	0.0029	0.0029	0.0034	0.0034	0.0006	0.0027	0.0022	0	0.0007	0.0035	0.0035	0.0031	0.0005	0.0028	0.0028	0.0026	0.0030	0.0052	0.0026	0.0025	0.0043	0.0040	0.0008	0.0011	0.0052	0.0026	0	0.0006	0.0136	0.0042	0.0047	0.0002	0.366	0.11696	T	0.225	0.25514	T	.	.	.	.	.	.	0.337826	0.14010	N	0.551000	1	0.08975	N	.	.	.	4.0	0.03239	T	-0.79	0.21860	N	0.228	0.25622	-0.9065	0.47274	T	0.008	0.02884	T	10	0.0038471818	0.00073	T	0.008	0.20694	T	0.041	0.10877	.	.	0.137902524267	0.13322	0.06763425994309313	0.06701	0.319767572131	0.34175	0.226478457451	0.01717	T	.	.	.	-0.565321	0.00236	T	-0.586294	0.13988	T	0.0114291628453614	0.00171	T	0.824917	0.48720	T	0.016886756	0.00230	0.025371796	0.00579	0.016886756	0.00230	0.025371796	0.00579	-5.438	0.41284	T	.	.	0.127	0.27009	B	.	.	2.833570	0.37365	20.5	0.990404664072011	0.51006	0.11531	0.16695	N	AEFBCI	0.047483	0.08001	N	-0.621225929766527	0.18307	0.9494232	-0.571455022099089	0.20239	1.089485	0.850748275309075	0.25039	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	2.51	0.29435	0.959000	0.28838	2.853000	0.35153	0.654000	0.53741	0.025000	0.20085	0.742000	0.26489	0.961000	0.51904	0.3165:0.1246:0.5589:0.0	6.074	0.19131	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004032	0.020202	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1217.43	35	chr1	214644948	.	G	A	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.57;DP=422;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.053;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	9	0	1	0
chr1	214645556	214645556	A	G	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.A5986G:p.S1996G	Stromme syndrome, Autosomal recessive	421	1098	2	1	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00307557025383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1420651187	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.402	0.10412	T	0.394	0.15305	T	.	.	.	.	.	.	0.506143	0.05120	N	1.366580	1	0.08975	N	.	.	.	0.78	0.49358	T	-1.06	0.27669	N	0.103	0.08646	-1.0330	0.19490	T	0.053	0.22655	T	10	0.043306947	0.03165	T	0.003076	0.06636	T	0.057	0.16321	.	.	0.0482279557977	0.04254	0.015535985324263656	0.01509	0.0497193645507	0.05451	0.249759674072	0.03742	T	.	.	.	-0.314934	0.07320	T	-0.674671	0.07313	T	0.0314089257149707	0.02212	T	0.489851	0.15048	T	0.026220506	0.01653	0.033440735	0.02239	0.026220506	0.01653	0.033440735	0.02239	-4.957	0.36370	T	.	.	0.056	0.00496	B	.	.	-0.330764	0.02486	0.290	0.60498897640054228	0.06478	0.01885	0.05793	N	AEFBCI	0.021908	0.01031	N	-1.42816029369839	0.02394	0.105666	-1.40199971513235	0.03232	0.150352	0.834263486472987	0.24748	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	-2.13	0.06745	-0.281000	0.08489	0.053000	0.14027	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4817:0.0:0.5183:0.0	13.061	0.58416	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1195.43	35	chr1	214645556	.	A	G	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.354;DP=450;ExcessHet=0;FS=2.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.083;SOR=0.468	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	9	0	1	0
chr1	215647651	215647651	T	A	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon67:c.A14662T:p.T4888S	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	2	1508	11	1	0	13	0.00429185	.	.	YES	172373	not_specified|not_provided|Retinitis_pigmentosa_39|Usher_syndrome_type_2A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	.	0.00339457	0.0019	0.0003	0.0004	0	0	1.5e-05	0.0022	0.0132	0.0016041	248	154602	rs200993435	0.0008	0.0008	0.0004	0.0012	0.0130	0.0008	0.0007	0.0124	0.0121	0	0	0	0	0	0.0009	1.799e-06	0.0007	0.0130	0.0004	0.0004	0.0002	0.0007	0.0126	0.0003	0.0003	0.0101	0.0092	0.0001	0	0	0	0	0	0	0	0	0.0126	0.466	0.08584	T	0.495	0.11371	T	0.0	0.02946	B	0.002	0.06944	B	0.239619	0.03573	N	1.979230	1	0.08975	N	0.62	0.15745	N	0.41	0.57100	T	-0.25	0.11008	N	0.085	0.06190	-0.9991	0.30171	T	0.060	0.25163	T	10	0.0072621405	0.00165	T	.	.	.	0.117	0.32689	.	.	0.606442066225	0.60329	0.17513259371677825	0.17432	0.0285023843648	0.02934	0.216341197491	0.01109	T	0.022511	0.17341	T	-0.667378	0.00057	T	-0.720387	0.04777	T	0.0126929710453862	0.00213	T	0.274073	0.04660	T	0.03577876	0.04276	0.023033546	0.00320	0.03577876	0.04276	0.023033546	0.00320	-2.403	0.05151	T	0.0997274215141531	0.07276	0.083	0.09385	B	.	.	-1.514873	0.00286	0.005	0.20515617161648358	0.00741	0.06157	0.12138	N	AEFBI	0.068052	0.13406	N	-1.63666393831437	0.01092	0.04741578	-1.76370717513333	0.00883	0.03944998	0.999999999757835	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.8	-11.6	0.00045	-1.845000	0.01770	-6.941000	0.01268	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.3658:0.2845:0.0904:0.2594	1.596	0.02503	672	0.60758	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	402.43	35	chr1	215647651	.	T	A	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=361;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.45;ReadPosRankSum=-1.837;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	9	0	1	0
chr1	215671031	215671031	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon64:c.G14074A:p.G4692R	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	57589	Usher_syndrome_type_2A|Retinitis_pigmentosa_39|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.433	0.56446389033	0.0048	0.00219649	0.0048	0.0014	0.0022	0	0.0023	0.0072	0.0011	0.0027	0.0050517	781	154602	rs45549044	0.0067	0.0067	0.0068	0.0066	0.0080	0.0066	0.0066	0.0078	0.0078	0.0012	0.0022	0.0004	5.038e-05	0.0027	0.0052	0.0080	0.0059	0.0032	0.0042	0.0042	0.0045	0.0039	0.0075	0.0039	0.0038	0.0069	0.0067	0.0015	0.0055	0.0014	0	0	0.0016	0.0102	0.0075	0.0043	0.0035	0.041	0.41915	D	0.006	0.70582	D	1.0	0.90584	D	0.987	0.77487	D	0.000996	0.40743	U	0.000000	0.972881	0.38981	D	1.63	0.41750	L	0.46	0.56281	T	-3.9	0.72932	D	0.751	0.75009	-0.7756	0.56548	T	0.190	0.54213	T	10	0.01668179	0.00353	T	0.564464	0.96037	D	0.433	0.73879	0.764	0.89213	0.873267043112	0.87203	0.6539209591646689	0.65328	0.228862989454	0.25439	0.423841416836	0.28365	T	0.313544	0.68529	T	-0.106726	0.35311	T	0.0875454	0.76081	D	0.0187997115715382	0.00591	T	0.859714	0.55187	D	0.2388664	0.46770	0.30004802	0.56038	0.2388664	0.46770	0.30004802	0.56037	-10.165	0.74893	D	0.7067154624936425	0.78641	0.345	0.56218	A	.	.	3.947307	0.57808	23.9	0.99580028881389804	0.72921	0.82560	0.41771	D	AEFI	0.265091	0.38229	N	0.186135652831798	0.50535	3.242436	0.102961599110356	0.44699	2.746691	0.311064590805169	0.19287	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.484000	0.52965	5.915000	0.51078	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.796000	0.37562	0.0:0.9246:0.0:0.0754	13.484	0.60812	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.007576	0.05	1645.43	35	chr1	215671031	.	C	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=443;ExcessHet=0;FS=5.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.113;SOR=1.125	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	9	0	1	0
chr1	215680331	215680331	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon62:c.A12112G:p.T4038A	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	.	858903	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.243	0.322929554422	.	.	3.299e-05	0	0	0	0	5.996e-05	0	0	2.59e-05	4	154602	rs754979740	4.583e-05	4.583e-05	5.717e-05	3.438e-05	0.0010	3.661e-05	3.347e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.946e-05	9.934e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.551e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.551e-05	0	0	0	0	4.41e-05	0	0	0.137	0.25979	T	0.058	0.46182	T	0.992	0.64738	D	0.887	0.62952	P	0.000296	0.46274	D	0.000000	0.526296	0.31528	N	1.76	0.45711	L	0.4	0.57261	T	-2.37	0.52289	N	0.094	0.07398	-0.7363	0.58642	T	0.216	0.57745	T	10	0.61584055	0.67700	D	0.32293	0.91528	D	0.243	0.54921	.	.	0.837083782604	0.83553	0.4737459772398402	0.47293	0.0335984887463	0.03527	0.322042942047	0.13731	T	0.095618	0.39657	T	-0.157273	0.27182	T	-0.307322	0.43947	T	0.133371478305574	0.15690	T	0.552645	0.19087	T	0.14400096	0.33072	0.17915915	0.40633	0.14400096	0.33072	0.17915915	0.40632	-5.196	0.38901	T	0.457450626276204	0.54020	0.073	0.04558	B	.	.	0.802268	0.11727	8.307	0.90258052451502069	0.19528	0.90504	0.51735	D	AEFBI	0.260781	0.37886	N	0.0634956574525399	0.44764	2.744671	-0.0032997096804105	0.39566	2.347937	0.0170806997554493	0.12909	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	1.880000	0.39263	0.137000	0.15122	0.665000	0.62972	0.963000	0.33788	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.0:1.0	15.186	0.72687	656	0.62345	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2041.43	33	chr1	215680331	.	T	C	2041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.627;DP=444;ExcessHet=0;FS=3.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=1.71;SOR=0.448	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1235	9	0	1	0
chr1	215888503	215888503	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon41:c.G8146A:p.E2716K	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	1	1512	8	1	0	10	0.00329598	.	.	YES	761596	Retinal_dystrophy|Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.195	0.141138886541	.	0.00139776	0.0005	0	8.649e-05	0	0	1.5e-05	0.0022	0.0038	0.0004722	73	154602	rs531822235	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0033	0	0.0002	0	0	0	0.0014	4.047e-05	0.0003	0.0037	0.0002	0.0002	8.992e-05	0.0003	0.0039	0.0001	0.0001	0.0026	0.0021	4.808e-05	0	0	0	0	0	0	8.82e-05	0	0.0039	0.304	0.14303	T	0.206	0.27056	T	0.376	0.34240	B	0.115	0.31843	B	0.069210	0.21620	N	0.322570	0.786119	0.29278	N	2.325	0.66631	M	0.6	0.53731	T	-1.27	0.31981	N	0.623	0.63798	-0.9184	0.45770	T	0.135	0.44933	T	10	0.014889747	0.00313	T	0.141139	0.82357	D	0.195	0.47612	0.477	0.55502	0.894154823557	0.89310	0.5023496414421986	0.50156	0.035373054022	0.03728	0.251143872738	0.03889	T	0.076511	0.35436	T	-0.349936	0.04732	T	-0.275443	0.47268	T	0.0208608285983902	0.00787	T	0.827217	0.49094	T	0.18217868	0.39424	0.14899513	0.35197	0.18217868	0.39423	0.14899513	0.35196	-7.735	0.59251	D	0.7016832740800685	0.78073	0.136	0.29642	B	.	.	2.011600	0.25557	16.81	0.99451342826249878	0.65274	0.65342	0.32705	D	AEFHCI	0.221576	0.34618	N	-0.43866498234783	0.24125	1.300512	-0.400865059868832	0.24971	1.370559	0.0247287025115608	0.13599	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.73	3.84	0.43422	1.634000	0.36736	1.438000	0.26503	0.599000	0.40250	0.876000	0.30908	0.622000	0.25821	0.771000	0.36558	0.0:0.7513:0.2487:0.0	16.415	0.83569	842	0.36989	Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1711.43	122	chr1	215888503	.	C	T	1711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=437;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.702;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1246	9	0	1	0
chr1	216084721	216084721	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon25:c.A5144G:p.E1715G	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2418919	Usher_syndrome	MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.118	0.0839974928411	.	.	.	.	.	.	.	.	.	.	.	.	.	rs528113865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.35726	T	0.051	0.47828	T	0.682	0.41464	P	0.255	0.39216	B	0.009349	0.30401	N	0.146543	0.55936	0.31270	N	2.095	0.58118	M	2.53	0.14038	T	-2.5	0.54382	D	0.307	0.34659	-1.0687	0.09701	T	0.034	0.14813	T	10	0.35739312	0.52456	T	0.083997	0.74234	D	0.118	0.32913	0.365	0.37199	0.859549306215	0.85819	0.4590324531778631	0.45821	0.0332591431423	0.03475	0.31427103281	0.12553	T	0.132794	0.46310	T	-0.218161	0.18244	T	-0.454296	0.27222	T	0.873177886009216	0.52304	D	0.618838	0.23746	T	0.12356744	0.29012	0.19337499	0.42904	0.12356744	0.29011	0.19337499	0.42903	-4.134	0.25789	T	0.5192727367931997	0.59181	0.106	0.19559	B	.	.	2.802091	0.36860	20.4	0.99780083179469448	0.86693	0.96253	0.68242	D	AEFI	0.733965	0.68024	D	0.239710966716474	0.53133	3.483528	0.305598990856147	0.55867	3.74965	0.974761762540907	0.29571	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.635000	0.74153	4.100000	0.41859	0.665000	0.62972	0.894000	0.31287	0.857000	0.27449	0.986000	0.61781	0.0:0.0:0.0:1.0	14.661	0.68474	748	0.52143	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3337.43	35	chr1	216084721	.	T	C	3337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.853;DP=582;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.376;SOR=0.525	GT:AD:DP:GQ:PL	0/1:105,146:251:99:3349,0,2368	9	0	1	0
chr1	216175408	216175408	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon21:c.G4471A:p.E1491K,USH2A:NM_206933:exon21:c.G4471A:p.E1491K	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0121078061175	.	0.000199681	8.274e-06	9.615e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs551567431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.561e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.901	0.02581	T	0.574	0.14500	T	0.003	0.11197	B	0.002	0.10090	B	0.086342	0.20592	U	0.340831	1	0.08975	N	1.845	0.48678	L	0.56	0.54540	T	-0.41	0.14000	N	0.186	0.20262	-1.0221	0.23031	T	0.080	0.31645	T	10	0.054751307	0.05878	T	0.012108	0.30386	T	0.076	0.22200	0.487	0.57098	0.667260656149	0.66445	0.34086755809510566	0.33999	0.0322426943668	0.03362	0.329813361168	0.14906	T	0.04911	0.28211	T	-0.322764	0.06674	T	-0.519876	0.20307	T	0.112710291091831	0.13703	T	0.778122	0.41194	T	0.07584977	0.17116	0.06841437	0.14284	0.07584977	0.17115	0.06841437	0.14283	-4.963	0.36436	T	0.2667594388243823	0.35948	0.069	0.03231	B	.;.	.;.	2.216272	0.28277	17.74	0.70692782075080418	0.09379	0.82959	0.42120	D	AEFI	0.142821	0.26536	N	-0.613138760393923	0.18549	0.9638922	-0.47567112120608	0.22825	1.241732	4.17636823429962E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.62	0.40616	1.315000	0.33214	1.032000	0.23488	0.584000	0.30380	0.631000	0.28008	0.000000	0.08366	0.661000	0.32996	0.0:0.6871:0.1726:0.1403	7.763	0.28130	806	0.43582	Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	811.43	67	chr1	216175408	.	C	T	811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.69;DP=377;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.364;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1072	9	0	1	0
chr1	216246848	216246848	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon13:c.G2546A:p.C849Y,USH2A:NM_206933:exon13:c.G2546A:p.C849Y	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	57650	Retinal_dystrophy|not_specified|Retinitis_pigmentosa|not_provided|Usher_syndrome_type_2A	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.778	.	0.0048	0.00658946	0.0015	0.0153	0.0006	0	0	0.0002	0	0	0.0014489	224	154602	rs111033481	0.0005	0.0005	0.0005	0.0005	0.0151	0.0005	0.0005	0.0140	0.0136	0.0151	0.0010	0	0	0	0.0016	9.623e-05	0.0009	8.115e-05	0.0040	0.0040	0.0041	0.0038	0.0134	0.0037	0.0036	0.0125	0.0121	0.0134	0	0.0013	0	0	0	0.0034	0.0003	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000254	0.46924	D	0.000000	1	0.81001	D	4.53	0.99067	H	-3.4	0.94260	D	-9.02	0.98823	D	0.991	0.99776	0.515	0.90761	D	0.828	0.94238	D	10	0.03531897	0.01776	T	.	.	.	0.778	0.92583	.	.	0.971563410866	0.97125	0.9768243542837681	0.97672	0.283801731736	0.30815	0.597277402878	0.52521	T	0.433187	0.78070	T	0.110458	0.65400	D	0.398863	0.92073	D	0.189226752807175	0.19799	T	0.873813	0.58729	D	0.82420206	0.85505	0.94667894	0.98195	0.9426516	0.95518	0.9535783	0.98612	-11.28	0.81172	D	0.8038965528170291	0.88012	0.844	0.79791	P	.;.	.;.	3.736913	0.53487	23.4	0.99778192794093934	0.86519	0.85007	0.44107	D	AEFDGBIJ	0.330797	0.43072	N	0.9870161906956	0.95332	13.520	0.888432805574321	0.95047	13.26569	0.763254120265975	0.23546	0.541725	0.22260	1	0.573888	0.26702	0	0.459889	0.06779	1	0.564101	0.26826	0	.	.	6.03	6.03	0.97798	2.653000	0.46355	4.022000	0.41260	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	20.557	0.99307	869	0.31655	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.005051	0.013587	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	2815.43	191	chr1	216246848	.	C	T	2815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=507;ExcessHet=0;FS=0.53;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.147;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,976	9	0	1	0
chr1	219609793	219609793	C	T	exonic	ZC3H11B	.	nonsynonymous SNV	ZC3H11B:NM_001355457:exon2:c.G2270A:p.R757Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179598724	2.147e-05	2.943e-05	2.209e-05	2.085e-05	0.0030	1.539e-05	1.341e-05	0.0019	0.0016	0	0	0	5.052e-05	0	0.0030	8.212e-06	1.673e-05	2.33e-05	1.316e-05	1.971e-05	2.572e-05	0	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	38	chr1	219609793	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=620;ExcessHet=0;FS=4.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.44;MQRankSum=0.739;QD=4.86;ReadPosRankSum=0.596;SOR=0.472	GT:AD:DP:GQ:PL	0/1:211,74:285:99:1396,0,5466	9	0	1	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F,BPNT1:NM_001286151:exon2:c.C14T:p.S5F,BPNT1:NM_001286150:exon3:c.C179T:p.S60F,BPNT1:NM_006085:exon3:c.C179T:p.S60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	57.23	58	chr1	220074013	.	G	A	57.23	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.835;DP=576;ExcessHet=0.2348;FS=264.61;InbreedingCoeff=-0.2122;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.3;ReadPosRankSum=0.965;SOR=8.379	GT:AD:DP:GQ:PL	0/0:47,0:47:29:0,29,912	5	0	2	3
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	191.32	95	chr1	220154029	.	G	C	191.32	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.127;DP=777;ExcessHet=7.0302;FS=236.426;InbreedingCoeff=-0.4786;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.194;SOR=10.961	GT:AD:DP:GQ:PL	0/1:37,14:51:5:5,0,479	3	0	7	0
chr1	220652035	220652035	G	C	exonic	MARK1	.	nonsynonymous SNV	MARK1:NM_001286128:exon14:c.G1555C:p.A519P,MARK1:NM_001286124:exon15:c.G1621C:p.A541P,MARK1:NM_001286126:exon15:c.G1621C:p.A541P,MARK1:NM_018650:exon15:c.G1621C:p.A541P	.	427	1089	6	0	0	6	0.00274725	.	.	.	707103	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0095	0.0153754	0.0058	0.0283	0.0020	0.0017	0	5.996e-05	0.0011	0.0222	0.0053298	824	154602	rs79027592	0.0022	0.0022	0.0018	0.0027	0.0315	0.0022	0.0022	0.0299	0.0293	0.0315	0.0018	0	0.0008	0	0.0028	4.141e-05	0.0037	0.0211	0.0093	0.0093	0.0093	0.0094	0.0296	0.0089	0.0088	0.0282	0.0277	0.0296	0	0.0036	0	0.0031	0	0.0034	0.0001	0.0071	0.0207	0.167	0.23095	T	0.555	0.10750	T	0.0	0.24543	B	0.002	0.31370	B	0.000063	0.52346	D	0.131094	0.999991	0.18612	N	1.1	0.28011	L	1.33	0.35031	T	0.15	0.05917	N	0.419	0.49874	-1.0769	0.07962	T	0.012	0.04700	T	10	0.0038231015	0.00072	T	.	.	.	0.043	0.11576	.	.	0.161926535498	0.15789	0.3283291276135048	0.32745	0.263458814459	0.28900	0.448996245861	0.31806	T	0.010086	0.09570	T	-0.537015	0.00349	T	-0.520476	0.20245	T	0.0100499225868852	0.00135	T	0.831417	0.50504	T	0.06236238	0.13017	0.155249	0.36399	0.06236238	0.13016	0.155249	0.36398	-3.586	0.17654	T	.	.	0.087	0.13127	B	.;.;.;.	.;.;.;.	4.150054	0.62247	24.4	0.99418804224900037	0.63645	0.93686	0.58902	D	AEFBI	0.425424	0.49019	N	-0.472345838527117	0.22989	1.231441	-0.357897657601133	0.26265	1.449669	2.23797325724106E-4	0.06048	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.71	2.41	0.28644	2.826000	0.47805	4.905000	0.45897	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.215:0.0:0.6667:0.1183	7.910	0.28945	689	0.59000	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	619.43	36	chr1	220652035	.	G	C	619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.865;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.65;ReadPosRankSum=-1.101;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	9	0	1	0
chr1	221739728	221739728	A	G	exonic	DUSP10	.	nonsynonymous SNV	DUSP10:NM_007207:exon2:c.T17C:p.L6S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0391790014194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.917e-07	1.368e-06	0	1.395e-06	9.076e-07	0	0	.	.	0	0	0	0	0	0	9.076e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	0.841643	0.07003	N	1.077800	1	0.81001	D	0.975	0.24501	L	3.6	0.04494	T	-0.59	0.17624	N	0.899	0.89912	-1.1115	0.02944	T	0.037	0.16160	T	10	0.7444325	0.75186	D	0.039179	0.58658	D	0.360	0.68052	0.11	0.02049	0.550885202691	0.54745	0.8136111555073962	0.81317	1.28636609278	0.82672	0.773925364017	0.78013	T	0.183662	0.53607	T	0.183493	0.72364	D	0.025799	0.72006	D	0.92934376001358	0.59335	D	0.805419	0.45334	T	0.2390642	0.46793	0.32787758	0.58681	0.2390642	0.46793	0.32787758	0.58681	-2.867	0.08818	T	.	.	0.643	0.70658	P	.	.	4.921596	0.81058	27.5	0.99854874203353206	0.93368	0.95059	0.63288	D	AEFDBHCI	0.897757	0.84029	D	0.687929479768234	0.78842	6.953603	0.725470477654434	0.84313	8.257233	0.999999999999695	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.687403	0.62504	0	0.616125	0.45549	0	.	.	5.61	5.61	0.85347	8.947000	0.92735	11.299000	0.92274	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.801	0.78227	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1794.43	37	chr1	221739728	.	A	G	1794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.45;DP=464;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.081;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	9	0	1	0
chr1	222538766	222538766	G	T	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon5:c.C1459A:p.L487M	.	422	1089	11	0	0	11	0.00502513	.	.	.	718673	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.230	.	0.0044	0.00239617	0.0040	0.0010	0.0014	0	0.0109	0.0053	0.0110	0.0012	0.0041203	637	154602	rs116359984	0.0053	0.0053	0.0053	0.0053	0.0060	0.0052	0.0051	0.0059	0.0058	0.0010	0.0021	0.0004	0	0.0102	0.0036	0.0060	0.0038	0.0014	0.0046	0.0046	0.0044	0.0048	0.0060	0.0043	0.0042	0.0055	0.0053	0.0010	0.0022	0.0059	0.0012	0	0.0123	0.0034	0.0060	0.0085	0.0010	0.044	0.41096	D	0.086	0.40909	T	1.0	0.90584	D	0.998	0.88582	D	0.000570	0.43250	D	0.153343	0.992857	0.41762	D	2.335	0.66956	M	2.56	0.13673	T	-1.55	0.37566	N	0.433	0.47208	-1.1730	0.00484	T	0.048	0.20434	T	10	0.014419138	0.00303	T	.	.	.	0.230	0.53062	.	.	0.197625483188	0.19356	0.4017266481056992	0.40088	0.68760950996	0.60391	0.620371103287	0.55782	T	0.00331	0.02718	T	-0.452145	0.01097	T	-0.419223	0.31164	T	0.02550971537922	0.01340	T	0.921108	0.71398	D	0.39438424	0.60342	0.2511849	0.50724	0.39438424	0.60342	0.2511849	0.50723	-9.805	0.72736	D	.	.	0.152	0.33619	B	.	.	4.089281	0.60890	24.3	0.99645716448364385	0.76943	0.98642	0.85044	D	AEFBI	0.826831	0.74624	D	0.569552629591111	0.71279	5.627006	0.543441570618771	0.70943	5.580067	0.120778704780486	0.16876	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.35	4.43	0.52967	6.394000	0.73153	4.951000	0.46281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.1591:0.0:0.8409:0.0	9.525	0.38325	904	0.23766	Glucose/Sorbosone dehydrogenase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.000000	0.000000	0.000000	0.015244	0.003788	0.05	487.43	33	chr1	222538766	.	G	T	487.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=348;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.034;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1102	9	0	1	0
chr1	222544089	222544089	T	G	exonic	HHIPL2	.	nonsynonymous SNV	HHIPL2:NM_024746:exon2:c.A422C:p.H141P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.061786165327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.19927	T	0.15	0.32461	T	0.107	0.26081	B	0.142	0.33681	B	0.000050	0.53742	D	0.166361	0.998644	0.45212	D	2.865	0.83145	M	-1.02	0.76300	T	-4.37	0.77061	D	0.779	0.77601	-0.3317	0.74084	T	0.438	0.77733	T	10	0.7939143	0.78899	D	0.061786	0.68443	D	0.532	0.80307	0.705	0.84145	0.448201132538	0.44443	0.8911395181234112	0.89083	0.349160972966	0.36775	0.441397666931	0.30768	T	0.019757	0.15682	T	0.182221	0.72247	D	0.0239715	0.71887	D	0.894823908805847	0.54627	D	0.778122	0.41194	T	0.63161206	0.74385	0.52858216	0.72762	0.63161206	0.74386	0.52858216	0.72763	-12.085	0.85262	D	.	.	0.329	0.55166	B	.	.	2.179412	0.27780	17.58	0.95487984108075274	0.27061	0.49736	0.28501	N	AEFDGBHCI	0.419766	0.48686	N	-0.326382255168046	0.28150	1.550256	-0.310254631235256	0.27766	1.543086	0.999999999977309	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.59	4.43	0.52967	0.549000	0.23037	1.450000	0.26598	0.609000	0.47794	0.224000	0.24579	0.970000	0.29701	0.668000	0.33194	0.0:0.0:0.1415:0.8585	12.341	0.54417	894	0.26265	Folate receptor-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1874.43	158	chr1	222544089	.	T	G	1874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.632;DP=481;ExcessHet=0;FS=6.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.717;SOR=0.451	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1276	9	0	1	0
chr1	222561432	222561432	C	T	exonic	TAF1A	.	nonsynonymous SNV	TAF1A:NM_139352:exon9:c.G830A:p.S277N,TAF1A:NM_001201536:exon10:c.G1172A:p.S391N,TAF1A:NM_005681:exon10:c.G1172A:p.S391N	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0077	0.0061901	0.0020	0.0220	0.0010	0	0	4.499e-05	0	0	0.0018758	290	154602	rs145156580	0.0006	0.0006	0.0007	0.0005	0.0195	0.0005	0.0005	0.0183	0.0178	0.0195	0.0012	0	2.523e-05	0	0.0007	3.059e-05	0.0014	4.653e-05	0.0056	0.0056	0.0061	0.0051	0.0193	0.0053	0.0051	0.0182	0.0178	0.0193	0	0.0017	0	0	0	0	0.0001	0.0061	0	0.337	0.12837	T	0.256	0.23298	T	0.005	0.12996	B	0.004	0.10090	B	0.000042	0.53742	D	0.222672	0.999581	0.20930	N	1.09	0.27330	L	0.73	0.50721	T	-0.73	0.20576	N	0.232	0.26111	-1.0919	0.05223	T	0.041	0.17785	T	10	0.00363034	0.00066	T	.	.	.	0.066	0.19193	.	.	0.573582730237	0.57026	0.09795371241337296	0.09726	0.23912164919	0.26467	0.376865833998	0.21811	T	0.004733	0.04144	T	-0.638681	0.00085	T	-0.673941	0.07359	T	0.00565951547907298	0.00062	T	0.49705	0.16498	T	0.031153552	0.02903	0.051716324	0.08379	0.031153552	0.02903	0.051716324	0.08378	-3.64	0.19910	T	.	.	0.082	0.08802	B	.;.;.	.;.;.	1.369389	0.17795	13.37	0.97157039189319028	0.32612	0.07725	0.13727	N	AEFBI	0.035114	0.04466	N	-0.511273368775993	0.21715	1.154448	-0.412427815724692	0.24632	1.349955	0.00205054431297608	0.09112	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.97	1.4	0.21393	0.740000	0.25856	-0.395000	0.09449	0.599000	0.40250	0.475000	0.26761	0.000000	0.08366	0.991000	0.66497	0.0:0.4595:0.2919:0.2486	5.368	0.15425	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1195.43	121	chr1	222561432	.	C	T	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=485;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=0.237;SOR=0.766	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	222628373	222628373	G	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.G1153A:p.D385N,MIA3:NM_001324063:exon4:c.G1153A:p.D385N,MIA3:NM_198551:exon4:c.G1153A:p.D385N,MIA3:NM_001324064:exon5:c.G661A:p.D221N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0327850061945	.	0.000599042	0.0007	0	0	0	0	0	0.0011	0.0050	0.0005563	86	154602	rs564848897	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	0	0	0	2.52e-05	0	0.0002	2.698e-06	0.0004	0.0049	0.0001	0.0001	6.424e-05	0.0002	0.0044	9.142e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0044	0.008	0.58626	D	0.353	0.70582	T	0.997	0.70673	D	0.921	0.65636	D	.	.	.	.	0.892925	0.35993	D	.	.	.	2.53	0.48769	T	-2.12	0.57275	N	0.243	0.52386	-0.5713	0.65963	T	0.293	0.66460	T	9	0.0072318614	0.00165	T	0.032785	0.54518	D	0.206	0.49396	0.344	0.33788	0.514072065251	0.51050	0.0495651754555107	0.04899	0.351519266258	0.36992	0.327500760555	0.14557	T	0.01311	0.11397	T	-0.555503	0.00270	T	-0.570314	0.15420	T	0.0733242928020612	0.09110	T	0.812519	0.47330	T	0.14263871	0.32817	0.17161663	0.39356	0.14263871	0.32817	0.17161663	0.39356	-4.372	0.29174	T	.	.	0.141	0.30817	B	.;.	.;.	4.028209	0.59550	24.1	0.99912468621328032	0.98167	0.99041	0.90363	D	AEFBI	0.502646	0.53497	D	0.442057289607951	0.63752	4.615298	0.348523991174695	0.58418	4.012244	0.999999997284595	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.753000	0.61880	5.641000	0.49149	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	17.745	0.88328	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	33	chr1	222628373	.	G	A	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=452;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=1.29;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1167	9	0	1	0
chr1	222628566	222628566	T	C	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.T1346C:p.I449T,MIA3:NM_001324063:exon4:c.T1346C:p.I449T,MIA3:NM_198551:exon4:c.T1346C:p.I449T,MIA3:NM_001324064:exon5:c.T854C:p.I285T	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0103124165017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.157	0.53426	T	0.041	0.21357	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	0.98	0.42122	T	-1.26	0.40660	N	0.111	0.09772	-1.0440	0.16118	T	0.051	0.21495	T	9	0.060618162	0.07474	T	0.010312	0.26698	T	0.022	0.04323	0.273	0.22369	0.239901079897	0.23603	0.012099657781530966	0.01168	0.0664129689356	0.07407	0.261374950409	0.05056	T	0.00257	0.01964	T	-0.242325	0.15053	T	-0.58586	0.14026	T	0.0411155529422168	0.03892	T	0.631737	0.25234	T	0.031044304	0.02873	0.045152333	0.06010	0.031044304	0.02873	0.045152333	0.06010	-3.516	0.16657	T	.	.	0.142	0.31100	B	.;.	.;.	0.091052	0.04949	1.517	0.57382408698712495	0.05757	0.16823	0.19565	N	AEFBCI	0.049341	0.08514	N	-1.23099974729342	0.04556	0.2058725	-1.30817126510142	0.04324	0.2036903	0.937240987772214	0.27289	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.84	-4.08	0.03696	0.070000	0.14440	-0.366000	0.09640	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.1354:0.3424:0.1523:0.3699	1.764	0.02817	909	0.22467	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1235.43	33	chr1	222628566	.	T	C	1235.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.982;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.975;SOR=0.695	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1167	9	0	1	0
chr1	222629720	222629720	A	G	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.A2500G:p.I834V,MIA3:NM_001324063:exon4:c.A2500G:p.I834V,MIA3:NM_198551:exon4:c.A2500G:p.I834V,MIA3:NM_001324064:exon5:c.A2008G:p.I670V	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0053	0.00339457	0.0063	0.0016	0.0047	0	0.0067	0.0088	0.0101	0.0032	0.0061383	949	154602	rs79054337	0.0075	0.0075	0.0076	0.0074	0.0086	0.0074	0.0073	0.0084	0.0084	0.0013	0.0045	0.0007	0	0.0078	0.0036	0.0086	0.0072	0.0036	0.0055	0.0055	0.0055	0.0055	0.0084	0.0052	0.0051	0.0079	0.0076	0.0015	0.0044	0.0048	0	0	0.0079	0.0068	0.0084	0.0076	0.0048	0.071	0.35165	T	0.636	0.07059	T	0.017	0.17573	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	0.14	0.05405	N	0.06	0.03175	-0.9047	0.47481	T	0.007	0.02360	T	9	0.0034705698	0.00061	T	.	.	.	0.010	0.01040	.	.	0.126345400529	0.12197	0.02975397248211301	0.02924	0.0474528487497	0.05180	0.231261909008	0.02063	T	2.94E-4	0.00073	T	-0.674629	0.00052	T	-0.735578	0.04079	T	0.00121981089687263	0.00012	T	0.264874	0.04312	T	0.018474111	0.00368	0.0287193	0.01134	0.018474111	0.00368	0.0287193	0.01134	-2.737	0.07619	T	.	.	0.071	0.03887	B	.	.	-1.077967	0.00667	0.019	0.19956957880846973	0.00697	0.02504	0.06993	N	AEFBCI	0.020073	0.00756	N	-1.18086869438657	0.05290	0.2407763	-1.24845453336349	0.05154	0.2448985	0.988158556269713	0.31431	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.23	-1.89	0.07271	-0.116000	0.10697	-0.546000	0.08555	-0.056000	0.16711	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3763:0.3183:0.3054:0.0	4.205	0.09939	910	0.22284	.	.	.	.	.	rs79054337	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1127.43	77	chr1	222629720	.	A	G	1127.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.507;DP=588;ExcessHet=0;FS=1.609;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.392;SOR=0.845	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	9	0	1	0
chr1	222653314	222653314	T	A	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001300867:exon10:c.T930A:p.D310E,MIA3:NM_001324065:exon10:c.T930A:p.D310E,MIA3:NM_001324063:exon13:c.T4119A:p.D1373E,MIA3:NM_001324062:exon15:c.T4296A:p.D1432E,MIA3:NM_198551:exon15:c.T4296A:p.D1432E,MIA3:NM_001324064:exon16:c.T3804A:p.D1268E	.	419	1097	5	1	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.017018702899	8.3e-05	0.000199681	0.0005	0	0	0	0	0.0003	0	0.0023	0.000414	64	154602	rs199885504	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0020	0.0019	0	0.0001	0	0	9.36e-05	0.0010	0.0002	0.0006	0.0023	0.0003	0.0003	0.0002	0.0004	0.0019	0.0002	0.0002	0.0010	0.0007	4.81e-05	0	6.532e-05	0	0	9.411e-05	0	0.0004	0	0.0019	0.113	0.28772	T	0.519	0.14544	T	0.957	0.54824	D	0.676	0.53321	P	.	.	.	.	1	0.81001	D	.	.	.	1.19	0.40218	T	-2.58	0.58569	D	0.17	0.18103	-0.9682	0.37571	T	0.132	0.44366	T	9	0.013981551	0.00295	T	0.017019	0.38544	T	0.132	0.35948	0.111	0.02112	0.500994481783	0.49735	0.008371439392313995	0.00801	0.102785946879	0.11632	0.377012372017	0.21831	T	0.005223	0.04667	T	-0.482377	0.00716	T	-0.471536	0.25351	T	0.124264207584641	0.14841	T	0.680832	0.30012	T	0.19536626	0.41322	0.17058991	0.39179	0.19536626	0.41322	0.17058991	0.39178	-2.49	0.05713	T	.	.	0.158	0.35034	B	.;.	.;.	3.240612	0.44233	21.9	0.99635131837270707	0.76264	0.92853	0.56706	D	AEFDGBHCI	0.171196	0.29815	N	0.0277308732832431	0.43118	2.611131	0.0534614257907899	0.42239	2.55144	0.99999439870644	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	4.42	0.52775	0.196000	0.16979	0.305000	0.17021	0.665000	0.62972	0.997000	0.40164	0.998000	0.33993	0.994000	0.71098	0.0:0.0716:0.14:0.7884	7.611	0.27298	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	836.43	37	chr1	222653314	.	T	A	836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.069;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.077;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	223004392	223004392	A	C	exonic	DISP1	.	nonsynonymous SNV	DISP1:NM_001369594:exon8:c.A2995C:p.M999L,DISP1:NM_001377228:exon8:c.A2995C:p.M999L,DISP1:NM_001350630:exon9:c.A2266C:p.M756L,DISP1:NM_001377229:exon9:c.A2995C:p.M999L,DISP1:NM_032890:exon10:c.A2995C:p.M999L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.0457594287961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.67	0.06305	T	0.083	0.24734	B	0.054	0.25828	B	0.000000	0.84330	D	0.035731	1	0.81001	D	0.19	0.09125	N	-1.93	0.84842	D	0.33	0.03889	N	0.775	0.77226	-0.5990	0.64858	T	0.207	0.56622	T	10	0.41786283	0.56664	T	0.045759	0.62133	D	0.412	0.72328	0.451	0.51285	0.68153230018	0.67881	0.8459686246810043	0.84557	0.45004994787	0.44778	0.807989537716	0.83184	D	0.12665	0.45317	T	0.216835	0.75476	D	0.0736923	0.75157	D	0.829450905323029	0.48487	D	0.892111	0.62800	D	0.59847677	0.72609	0.3076071	0.56782	0.59847677	0.72610	0.3076071	0.56781	1.857	0.00059	T	.	.	0.224	0.45605	B	.	.	2.803215	0.36877	20.4	0.75819908213746434	0.11223	0.99059	0.90625	D	AEFBI	0.869683	0.79032	D	-0.338583721278502	0.27695	1.521509	-0.0165538715453319	0.38968	2.303434	0.999999999932122	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.85	5.85	0.93663	9.268000	0.94851	8.112000	0.76595	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	1.0:0.0:0.0:0.0	16.227	0.82122	844	0.36711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2996.43	81	chr1	223004392	.	A	C	2996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=776;ExcessHet=0;FS=2.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.2;SOR=0.535	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	9	0	1	0
chr1	223112787	223112787	G	A	exonic	TLR5	.	nonsynonymous SNV	TLR5:NM_003268:exon6:c.C245T:p.T82I	.	415	1051	54	2	0	58	0.0268519	.	.	.	707119	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0045	0.00359425	0.0059	0.0018	0.0016	0	0.0008	0.0065	0.0066	0.0139	0.0058602	906	154602	rs764535	0.0065	0.0065	0.0061	0.0069	0.0147	0.0064	0.0063	0.0135	0.0132	0.0011	0.0021	0.0166	7.558e-05	0.0011	0.0147	0.0064	0.0071	0.0141	0.0042	0.0042	0.0042	0.0042	0.0122	0.0040	0.0039	0.0097	0.0088	0.0012	0	0.0030	0.0115	0	0.0005	0.0170	0.0063	0.0052	0.0122	0.115	0.28520	T	0.268	0.22494	T	.	.	.	.	.	.	0.172334	0.17338	N	0.611782	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.54	0.16598	N	0.127	0.14196	-1.0339	0.19205	T	0.071	0.29034	T	10	0.0050294697	0.00108	T	.	.	.	0.020	0.03691	.	.	0.477143196806	0.47344	0.2498123214568168	0.24895	0.0606423343085	0.06746	0.341168403625	0.16612	T	.	.	.	-0.581305	0.00189	T	-0.596104	0.13141	T	0.00138614168513963	0.00014	T	0.659534	0.27772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.31253	B	.;.;.;.	.;.;.;.	1.290308	0.16911	12.84	0.90655103548364624	0.19907	0.06472	0.12481	N	AEFDBI	0.098121	0.19778	N	-0.849757684353521	0.12055	0.5853579	-0.859095531632201	0.13070	0.6759493	0.0619976288686071	0.15249	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.03	3.1	0.34780	1.533000	0.35645	3.780000	0.39787	-0.148000	0.12190	0.005000	0.17040	1.000000	0.68203	0.032000	0.13371	0.1456:0.0:0.6783:0.1761	6.566	0.21709	756	0.51065	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.010101	0.005435	0.014620	0.050000	0.000000	0.021341	0.015152	0.05	1676.43	41	chr1	223112787	.	G	A	1676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=486;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-1.835;SOR=0.587	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	9	0	1	0
chr1	223759394	223759394	A	G	exonic	CAPN2	.	nonsynonymous SNV	CAPN2:NM_001146068:exon12:c.A1208G:p.E403G,CAPN2:NM_001748:exon12:c.A1442G:p.E481G	.	391	1130	1	0	0	1	0.000442282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.116890488069	0.0002	.	5.774e-05	0.0005	0.0002	0	0	0	0	0	4.53e-05	7	154602	rs151234089	2.599e-05	2.599e-05	2.45e-05	2.75e-05	0.0010	1.932e-05	1.692e-05	0.0007	0.0006	0.0010	4.472e-05	0	0	0	0.0002	0	4.967e-05	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.546e-05	0	0	0	0	0	0.0010	0	0.027	0.48186	D	0.029	0.55759	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.93	0.96317	H	-2.4	0.88455	D	-6.16	0.90215	D	0.768	0.76573	0.806	0.94486	D	0.825	0.94136	D	10	0.8573623	0.84939	D	0.11689	0.79650	D	0.893	0.96947	.	.	0.943598155618	0.94301	0.814942607974481	0.81450	0.580046561263	0.53860	0.561731219292	0.47511	T	0.702183	0.91435	D	0.181161	0.72149	D	0.419973	0.92743	D	0.923369824886322	0.58397	D	0.964804	0.86967	D	0.6329929	0.74458	0.7099312	0.82891	0.6329929	0.74459	0.7099312	0.82892	-11.61	0.82899	D	.	.	0.710	0.73380	P	.;.	.;.	6.637918	0.95520	35	0.99922520512202762	0.98852	0.98845	0.87614	D	AEFDBHCI	0.962839	0.98456	D	0.767815152391845	0.84058	8.183275	0.731416794206949	0.84763	8.383802	0.999999999999942	0.74766	0.77792	0.99625	0	0.630245	0.54622	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	9.325000	0.96006	9.303000	0.79891	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	1.0:0.0:0.0:0.0	16.348	0.83004	.	.	.;Peptidase C2, calpain, large subunit, domain III|Peptidase C2, calpain, domain III|Calpain subdomain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1328.43	114	chr1	223759394	.	A	G	1328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.019;DP=458;ExcessHet=0;FS=4.536;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.788;SOR=0.865	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,111,1665	9	0	1	0
chr1	223761612	223761612	G	C	exonic	CAPN2	.	nonsynonymous SNV	CAPN2:NM_001146068:exon13:c.G1327C:p.E443Q,CAPN2:NM_001748:exon13:c.G1561C:p.E521Q	.	420	1087	15	0	0	15	0.00685244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0080	0.00579073	0.0070	0.0019	0.0041	0	0.0011	0.0107	0.0033	0.0037	0.0074967	1159	154602	rs28370127	0.0084	0.0084	0.0084	0.0083	0.0099	0.0083	0.0082	0.0098	0.0097	0.0019	0.0045	0.0036	5.043e-05	0.0019	0.0042	0.0099	0.0068	0.0035	0.0068	0.0068	0.0072	0.0063	0.0110	0.0064	0.0063	0.0103	0.0101	0.0023	0.0011	0.0076	0.0023	0	0.0010	0	0.0110	0.0104	0.0062	0.5	0.07969	T	0.709	0.07568	T	0.028	0.19712	B	0.039	0.23607	B	0.035290	0.24662	N	0.438058	0.999191	0.49770	D	1.475	0.37068	L	-2.08	0.86216	D	-1.06	0.27669	N	0.179	0.19325	-0.4087	0.71752	T	0.362	0.72315	T	10	0.008455396	0.00192	T	.	.	.	0.219	0.51417	.	.	0.851401530367	0.84996	0.4804321587476379	0.47963	0.125861384689	0.14188	0.367968350649	0.20540	T	0.167043	0.51351	T	-0.363089	0.03959	T	-0.284933	0.46297	T	0.0210863435681925	0.00810	T	0.69643	0.30590	T	0.24711089	0.47686	0.082077235	0.18704	0.24711089	0.47686	0.082077235	0.18703	-7.124	0.54933	T	.	.	0.114	0.25753	B	.;.	.;.	3.225433	0.43964	21.8	0.9407730979088943	0.24224	0.96515	0.69525	D	AEFDBCIJ	0.729707	0.67733	D	-0.112896686785912	0.36832	2.134277	0.0749637877710397	0.43295	2.634142	0.999999999794499	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.91	4.91	0.63897	6.216000	0.72157	9.796000	0.81670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.471	0.90722	.	.	.;.	CAPN8|TP53BP2|CAPN8	Artery_Tibial|Esophagus_Muscularis|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1179.43	33	chr1	223761612	.	G	C	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.401;DP=434;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.89;SOR=0.622	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	9	0	1	0
chr1	224617189	224617189	C	A	exonic	CNIH3	.	nonsynonymous SNV	CNIH3:NM_001322305:exon1:c.C15A:p.F5L,CNIH3:NM_152495:exon1:c.C15A:p.F5L	.	429	1092	1	0	0	1	0.000457666	.	.	.	3941212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.0134285889882	.	0.000399361	0.0002	0	0	0	0	4.502e-05	0	0.0011	0.0001488	23	154602	rs551694372	7.662e-05	7.661e-05	6.534e-05	8.801e-05	0.0009	6.491e-05	6.07e-05	0.0006	0.0006	0	2.237e-05	0	0	0	0.0009	3.058e-05	0.0001	0.0008	5.907e-05	5.905e-05	6.422e-05	5.368e-05	0.0010	3.074e-05	2.208e-05	0.0004	0.0003	0	0	0	0	0	0	0	5.879e-05	0	0.0010	0.253	0.16958	T	0.26	0.23029	T	0.997	0.70673	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.57	0.39626	L	1.03	0.40469	T	-3.04	0.62863	D	0.757	0.75559	-1.0176	0.24495	T	0.133	0.44583	T	10	0.16096994	0.30206	T	0.013429	0.32827	T	0.276	0.59253	0.442	0.49811	0.251116650651	0.24721	0.8997989924725598	0.89951	0.755411650053	0.63989	0.914600789547	0.97886	D	0.190127	0.54457	T	-0.210633	0.19290	T	-0.148141	0.59408	T	0.324620395898819	0.26008	T	0.913209	0.69058	D	0.34403345	0.56598	0.2929335	0.55321	0.34403345	0.56598	0.2929335	0.55320	-6.154	0.47550	T	.	.	0.983	0.91837	P	.	.	4.575217	0.72228	25.8	0.99837769797959808	0.91886	0.86663	0.45991	D	AEFDBHCI	0.379296	0.46237	N	0.361257886311547	0.59336	4.11221	0.377235990681675	0.60165	4.201051	0.999999999319856	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.85	4.85	0.62375	2.656000	0.46380	2.068000	0.30429	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.9087:0.0:0.0913	10.427	0.43572	452	0.79239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1159.43	36	chr1	224617189	.	C	A	1159.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.026;DP=433;ExcessHet=0;FS=2.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.78;SOR=0.91	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr1	225007516	225007516	T	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001145154:exon10:c.T1079G:p.I360S,DNAH14:NM_001349911:exon10:c.T1010G:p.I337S,DNAH14:NM_001367479:exon10:c.T1079G:p.I360S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	0.0035	0.00139776	0.0010	0.0103	0	0	0	0	0	0	0.0002264	35	154602	rs74149431	0.0003	0.0003	0.0003	0.0002	0.0103	0.0002	0.0002	0.0093	0.0090	0.0103	0.0005	0	0	0	0.0002	6.539e-06	0.0004	0	0.0027	0.0027	0.0029	0.0026	0.0095	0.0025	0.0024	0.0087	0.0084	0.0095	0	0.0010	0	0	0	0	2.941e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.78936	D	0.000065	0.52346	D	0.000000	0.958831	0.31511	N	.	.	.	1.96	0.36691	T	-3.05	0.78222	D	0.633	0.64648	-1.0418	0.16770	T	0.094	0.35604	T	10	0.008214265	0.00186	T	.	.	.	0.258	0.56959	.	.	0.397691132334	0.39381	0.2824065009418148	0.28153	0.389946800184	0.40218	0.561714708805	0.47510	T	0.008723	0.07985	T	-0.361816	0.04028	T	-0.285109	0.46279	T	0.0537910207848593	0.06154	T	0.542746	0.18485	T	0.7072088	0.78454	0.5863973	0.76012	0.7072088	0.78455	0.5863973	0.76013	-5.258	0.39526	T	.	.	0.552	0.66889	A	.;.;.;.;.	.;.;.;.;.	2.697827	0.35233	19.84	0.9906457001919684	0.51574	0.85576	0.44723	D	AEBI	0.334352	0.43314	N	0.253496608099958	0.53811	3.54861	0.255028317774695	0.52937	3.465229	0.00913046226655488	0.11800	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.65	5.65	0.86881	3.879000	0.55850	2.618000	0.33617	0.572000	0.28966	1.000000	0.71638	0.607000	0.25749	0.264000	0.23619	0.0:0.0:0.0:1.0	12.544	0.55535	745	0.52414	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1308.43	82	chr1	225007516	.	T	G	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.687;DP=389;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.96;ReadPosRankSum=0.636;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	9	0	1	0
chr1	225085608	225085608	A	-	exonic	DNAH14	.	frameshift deletion	DNAH14:NM_001367479:exon21:c.3392delA:p.M1133Cfs*16	.	455	1039	27	1	0	29	0.0137636	.	.	.	2816092	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00319489	0.0060	0	0.0049	0	0.0018	0.0070	0.0083	0.0078	0.0003074	8	26028	rs555051718	0.0024	0.0023	0.0021	0.0027	0.0130	0.0023	0.0023	0.0106	0.0097	0.0003	0.0028	0.0133	0	0.0010	0.0130	0.0018	0.0035	0.0076	0.0023	0.0023	0.0023	0.0023	0.0079	0.0021	0.0020	0.0059	0.0052	0.0003	0	0.0048	0.0124	0	0.0013	0.0170	0.0022	0.0066	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1763.39	41	chr1	225085607	.	GA	G	1763.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.14;DP=541;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.176;SOR=0.566	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1384	9	0	1	0
chr1	225353859	225353859	A	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.A11590G:p.K3864E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0614465465037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.042e-05	0.0002	4.845e-05	3.228e-05	5.677e-05	3.153e-05	2.859e-05	3.702e-05	3.273e-05	0	0	0	5.677e-05	0	0	4.78e-05	3.63e-05	1.325e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.255	0.23365	T	0.05	0.22331	B	0.099	0.30579	B	.	.	.	.	1	0.81001	D	.	.	.	3.08	0.08460	T	-1.64	0.39314	N	0.308	0.34874	-1.0192	0.23975	T	0.019	0.08033	T	8	0.124540865	0.23656	T	0.061447	0.68333	D	0.063	0.18251	0.572	0.69564	0.451599300725	0.44785	.	.	.	.	0.599538326263	0.52839	T	.	.	.	-0.239241	0.15447	T	-0.581429	0.14419	T	0.846662878990173	0.49880	D	0.464054	0.13535	T	.	.	.	.	.	.	.	.	-6.193	0.47866	T	.	.	.	.	.	.;.	.;.	2.585504	0.33527	19.37	0.98939638588293688	0.48921	0.85233	0.44348	D	AEFI	0.466657	0.51421	N	-0.052835977571936	0.39475	2.328543	0.0863524573255915	0.43860	2.679155	0.00441683280225518	0.10545	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	3.8	0.42887	3.749000	0.54867	5.638000	0.49139	0.709000	0.85303	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.9067:0.0:0.0933:0.0	8.962	0.35015	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	208.43	75	chr1	225353859	.	A	G	208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.664;DP=380;ExcessHet=0;FS=81.178;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.76;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:34:.:.:0,34,604:.	9	0	1	0
chr1	225353862	225353862	C	G	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001367479:exon73:c.C11593G:p.L3865V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.184522215149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.495e-06	2.815e-05	1.481e-06	1.51e-06	1.943e-06	2.5e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.943e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.007	0.69154	D	0.998	0.73220	D	0.987	0.77487	D	.	.	.	.	1	0.81001	D	.	.	.	3.07	0.08547	T	-2.09	0.47683	N	0.478	0.51315	-1.1684	0.00571	T	0.067	0.27674	T	8	0.42786682	0.57295	T	0.184522	0.85755	D	0.169	0.43123	0.464	0.53404	0.539206206136	0.53571	.	.	.	.	0.575304269791	0.49425	T	.	.	.	-0.225988	0.17183	T	-0.562392	0.16153	T	0.954804537863371	0.64353	D	0.537746	0.18100	T	.	.	.	.	.	.	.	.	-5.635	0.43111	T	.	.	.	.	.	.;.	.;.	3.753409	0.53817	23.4	0.99763407953241845	0.85254	0.92830	0.56650	D	AEFI	0.645686	0.62149	D	0.612402131367579	0.73959	6.051873	0.603151193080595	0.75167	6.263177	0.909202901970934	0.26305	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.96	4.96	0.65153	4.575000	0.60619	4.515000	0.43664	0.563000	0.28513	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.452	0.75010	620	0.66037	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	268.98	76	chr1	225353862	.	C	G	268.98	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.31;DP=353;ExcessHet=0.2348;FS=154.615;InbreedingCoeff=-0.2357;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=2.84;SOR=6.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:34:.:.:0,34,456:.	5	0	2	3
chr1	225399269	225399269	A	T	exonic	DNAH14	.	stoploss	DNAH14:NM_001367479:exon86:c.A13854T:p.X4618Y	.	446	1055	19	2	0	23	0.0107829	.	.	.	2816106	not_provided|DNAH14-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0088	0.00199681	0.0080	0.0010	0.0110	0	0.0043	0.0100	0.0169	0.0086	0.0021863	338	154602	rs41305733	0.0082	0.0079	0.0080	0.0083	0.0095	0.0080	0.0080	0.0090	0.0090	0.0014	0.0033	0.0024	5.601e-05	0.0049	0.0095	0.0092	0.0074	0.0068	0.0064	0.0064	0.0066	0.0062	0.0101	0.0060	0.0059	0.0094	0.0092	0.0015	0.0230	0.0055	0.0029	0	0.0062	0.0034	0.0101	0.0052	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.159	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2275	0.16981	T	-0.0891767	0.64224	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	0.245676	0.06257	2.709	0.77826113864670554	0.12038	0.85190	0.44301	D	AEFDBI	.	.	.	-0.120048347955809	0.36520	2.11208	-0.146601085914856	0.33539	1.919571	0.282508983074451	0.19002	0.106106	0.02776	0	0.105846	0.03286	0	0.083675	0.02720	0	0.09929	0.02979	0	0.224045	0.31500	4.38	3.25	0.36363	1.885000	0.39312	5.840000	0.50240	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.149000	0.20271	0.8996:0.0:0.1004:0.0	7.546	0.26936	634	0.64659	.;.;.	DNAH14	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005063	0.000000	0.000000	0.013514	0.083333	0.000000	0.000000	0.013514	0.05	887.43	62	chr1	225399269	.	A	T	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.748;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.58;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1131	9	0	1	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V,ENAH:NM_001008493:exon7:c.C1106T:p.A369V,ENAH:NM_018212:exon7:c.C1106T:p.A369V,ENAH:NM_001377481:exon8:c.C1163T:p.A388V,ENAH:NM_001377482:exon8:c.C1163T:p.A388V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	354.95	117	chr1	225514708	.	G	A	354.95	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.263;DP=743;ExcessHet=1.5895;FS=575.34;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=2.17;SOR=10.035	GT:AD:DP:GQ:PL	0/1:58,25:83:57:57,0,764	2	0	4	4
chr1	225856653	225856653	-	G	exonic	TMEM63A	.	frameshift insertion	TMEM63A:NM_014698:exon17:c.1569dupC:p.S524Qfs*11	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	2.997e-05	0	0.0007	3.84e-05	1	26028	rs747681350	5.816e-05	5.883e-05	3.812e-05	7.84e-05	0.0007	4.81e-05	4.432e-05	0.0005	0.0005	2.989e-05	0	0	0	0	0.0003	1.799e-05	6.626e-05	0.0007	3.287e-05	3.283e-05	3.856e-05	2.691e-05	0.0004	1.261e-05	7.98e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1208.39	33	chr1	225856653	.	T	TG	1208.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.59;DP=392;ExcessHet=0;FS=3.052;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.688;SOR=0.418	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1299	9	0	1	0
chr1	225857014	225857014	G	A	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon16:c.C1381T:p.P461S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0254578168405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.01	0.65728	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.435	0.70606	M	1.55	0.29866	T	-7.85	0.96058	D	0.794	0.79022	-0.8257	0.53575	T	0.201	0.55766	T	10	0.87316597	0.86593	D	0.025458	0.48428	D	0.422	0.73078	0.641	0.77795	0.456738291233	0.45297	0.7390001865424328	0.73845	0.757713701711	0.64085	0.599467039108	0.52829	T	0.083983	0.37177	T	0.125477	0.66918	D	-0.057538	0.66504	T	0.99803751707077	0.93059	D	0.955704	0.83186	D	0.82486224	0.85549	0.7690023	0.86359	0.82486224	0.85551	0.7690023	0.86360	-12.963	0.89210	D	0.2870691229816528	0.38318	0.320	0.54477	B	.	.	4.826012	0.78650	26.9	0.99926142300830068	0.99103	0.98942	0.88948	D	AEFBI	0.906903	0.86025	D	0.740083973651267	0.82258	7.718377	0.712043404572236	0.83294	7.983965	0.999999999959761	0.74766	0.706298	0.61202	0	0.644132	0.57912	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	9.770000	0.98154	8.397000	0.77098	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.620000	0.31896	0.0:0.0:1.0:0.0	18.550	0.91014	739	0.53257	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	58.43	33	chr1	225857014	.	G	A	58.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.073;DP=407;ExcessHet=0;FS=31.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.059;SOR=5.282	GT:AD:DP:GQ:PL	0/1:42,13:55:70:70,0,923	9	0	1	0
chr1	225985454	225985454	C	G	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon7:c.G1204C:p.E402Q	.	.	.	.	.	.	.	.	.	.	.	2430750	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.040808669767	.	.	9.109e-05	0	0	0	0	4.496e-05	0	0.0005	7.12e-05	11	154602	rs747430911	7.046e-05	7.046e-05	5.581e-05	8.525e-05	0.0006	5.913e-05	5.522e-05	0.0005	0.0004	0	0	0	0	0	0.0002	4.317e-05	6.623e-05	0.0006	2.628e-05	2.627e-05	3.853e-05	1.345e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.024	0.47745	D	0.035	0.52389	D	0.99	0.63424	D	0.906	0.64351	P	0.000515	0.43753	D	0.264599	1	0.81001	D	2.61	0.76335	M	0.52	0.55266	T	-1.7	0.40468	N	0.277	0.31365	-0.2722	0.75752	T	0.364	0.72476	T	10	0.25451857	0.42832	T	0.040809	0.59580	D	0.232	0.53354	0.355	0.35571	0.831658977058	0.83005	0.2536294318734944	0.25276	0.688324314113	0.60431	0.343205153942	0.16918	T	0.112953	0.42961	T	-0.257378	0.13209	T	-0.271223	0.47696	T	0.375304280144963	0.28002	T	0.938406	0.76842	D	0.15835914	0.35632	0.121774316	0.29379	0.15835914	0.35632	0.121774316	0.29378	-9.224	0.69127	D	.	.	0.254	0.48857	B	.	.	4.542441	0.71414	25.7	0.99856692171919814	0.93548	0.99436	0.96005	D	AEFBI	0.872733	0.79473	D	0.814249125732789	0.86989	9.065695	0.783254354229372	0.88605	9.645487	0.999999999999906	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.877000	0.85647	7.578000	0.60885	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.451	0.94861	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	763.43	34	chr1	225985454	.	C	G	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=370;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.062;SOR=0.534	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	225985466	225985466	A	T	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon7:c.T1192A:p.L398M	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00920767216874	0.0030	0.00199681	0.0036	0.0006	0.0046	0	0.0006	0.0044	0.0078	0.0045	0.0035705	552	154602	rs193190607	0.0042	0.0042	0.0041	0.0043	0.0118	0.0041	0.0041	0.0095	0.0087	0.0006	0.0064	0.0016	0	0.0006	0.0118	0.0044	0.0040	0.0056	0.0034	0.0034	0.0036	0.0031	0.0069	0.0031	0.0030	0.0058	0.0054	0.0008	0	0.0069	0.0014	0	0.0006	0.0034	0.0047	0.0099	0.0048	0.129	0.26852	T	0.132	0.34477	T	0.372	0.34134	B	0.285	0.40506	B	0.084424	0.02389	N	1.812070	1	0.08975	N	1.7	0.43825	L	0.95	0.43279	T	0.13	0.05503	N	0.116	0.10483	-0.9331	0.43680	T	0.065	0.26948	T	10	0.0058823824	0.00132	T	0.009208	0.24201	T	0.042	0.11227	.	.	0.206339911435	0.20273	0.1165311959512718	0.11581	0.660468085509	0.58873	0.259991586208	0.04890	T	0.016989	0.13941	T	-0.571087	0.00218	T	-0.583708	0.14215	T	0.011948019081198	0.00187	T	0.637136	0.25071	T	0.0379999	0.04980	0.058804125	0.10928	0.0379999	0.04980	0.058804125	0.10927	-6.297	0.48698	T	.	.	0.074	0.04889	B	.	.	1.425170	0.18423	13.73	0.9539316375753174	0.26834	0.11816	0.16880	N	AEFBI	0.065332	0.12738	N	-1.19452140318617	0.05082	0.2308651	-1.27389287416184	0.04786	0.2266111	0.986528051652103	0.31079	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	-5.59	0.02305	-0.025000	0.12361	-1.006000	0.06630	-0.789000	0.03264	0.000000	0.06391	0.000000	0.08366	0.830000	0.39126	0.1589:0.6225:0.2186:0.0	12.135	0.53267	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.013587	0.005848	0.000000	0.008621	0.006098	0.011364	0.05	608.43	34	chr1	225985466	.	A	T	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.899;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	226736432	226736432	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G1027A:p.V343M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2267764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00890764341178	0.0002	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0.0003	0.0002652	41	154602	rs199795545	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0004	3.826e-05	0	0	0.0029	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0	0	0	0.0032	0.0004	0.0005	0	0.21	0.19639	T	0.06	0.45744	T	0.015	0.17086	B	0.007	0.12992	B	0.104812	0.02582	N	1.936190	1	0.08975	N	0.69	0.16971	N	1.76	0.25996	T	0.04	0.09460	N	0.067	0.03956	-1.0251	0.22050	T	0.036	0.15726	T	10	0.02584678	0.00767	T	0.008908	0.23487	T	0.007	0.00512	.	.	0.202312658747	0.19855	0.11423920005933663	0.11351	0.198248602837	0.22201	0.398197293282	0.24818	T	0.050054	0.28486	T	-0.576773	0.00202	T	-0.748198	0.03557	T	0.0149355959147215	0.00318	T	0.675032	0.28342	T	0.036156416	0.04393	0.04187583	0.04860	0.036156416	0.04393	0.04187583	0.04860	-4.531	0.31292	T	.	.	0.146	0.46144	B	.;.;.	.;.;.	0.507183	0.08762	5.537	0.94287004509521166	0.24586	0.05797	0.11733	N	AEFDBHCI	0.057953	0.10837	N	-1.0949260225768	0.06736	0.310946	-1.11070511248466	0.07495	0.3647805	0.999948102287712	0.47345	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.636168	0.56350	0	.	.	4.43	-1.09	0.09397	-0.577000	0.05940	-0.325000	0.09934	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.0:0.3968:0.4311:0.1721	6.534	0.21541	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.000000	0.05	1569.43	51	chr1	226736432	.	C	T	1569.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.863;DP=615;ExcessHet=0;FS=3.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.355;SOR=1.022	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1272	9	0	1	0
chr1	227654936	227654936	G	T	exonic	ZNF678	.	nonsynonymous SNV	ZNF678:NM_001367911:exon3:c.G758T:p.R253I,ZNF678:NM_001367909:exon4:c.G686T:p.R229I,ZNF678:NM_178549:exon4:c.G851T:p.R284I,ZNF678:NM_001367910:exon5:c.G686T:p.R229I	.	.	.	.	.	.	.	.	.	.	.	2376244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00260076746766	.	0.000199681	3.33e-05	0.0001	0	0	0	0	0	0.0002	3.88e-05	6	154602	rs527431317	1.301e-05	1.3e-05	9.537e-06	1.651e-05	0.0002	8.32e-06	6.71e-06	9.799e-05	7.844e-05	0	2.249e-05	0	2.524e-05	0	0	2.699e-06	0	0.0002	3.294e-05	3.284e-05	3.866e-05	2.696e-05	0.0002	1.263e-05	8e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	0	0	0.0002	0.334	0.12961	T	0.152	0.32249	T	0.199	0.29618	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	2.22	0.62911	M	1.83	0.24841	T	-1.28	0.32185	N	0.224	0.25253	-1.0300	0.20454	T	0.056	0.23753	T	9	0.08205789	0.13502	T	0.002601	0.05263	T	0.045	0.12272	0.723	0.85761	0.0846915920261	0.08053	0.020901992842201875	0.02043	0.0186665029899	0.01818	0.261111110449	0.05024	T	0.020573	0.16172	T	-0.411796	0.01934	T	-0.592625	0.13439	T	0.0256272535771132	0.01355	T	0.171083	0.01625	T	0.05159733	0.09499	0.07518834	0.16528	0.05159733	0.09499	0.07518834	0.16528	-6.692	0.51750	T	.	.	0.152	0.42506	B	.;.	.;.	0.804121	0.11749	8.324	0.62820814821451154	0.07061	0.00002	0.00064	N	AEFDBHCI	0.027752	0.02323	N	-1.25634944958282	0.04216	0.1898775	-1.42867694910006	0.02969	0.1376006	4.37243023116353E-4	0.06970	0.566229	0.32551	0	0.653731	0.59785	0	0.575934	0.27490	0	0.674467	0.66132	0	.	.	1.62	-1.01	0.09650	-0.423000	0.07102	.	.	-1.280000	0.01269	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3312:0.0:0.6688:0.0	6.072	0.19115	710	0.56735	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1180.43	35	chr1	227654936	.	G	T	1180.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.453;DP=381;ExcessHet=0;FS=0.931;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.63;ReadPosRankSum=-0.669;SOR=0.507	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1075	9	0	1	0
chr1	228224494	228224494	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon9:c.C2689T:p.R897C,OBSCN:NM_052843:exon9:c.C2689T:p.R897C,OBSCN:NM_001271223:exon10:c.C2965T:p.R989C	.	0	1516	6	0	0	6	0.00197498	.	.	.	718715	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0003	0.00359425	0.0021	0.0001	0.0006	0.0002	0.0005	0.0006	0.0011	0.0124	0.001824	282	154602	rs185552992	0.0010	0.0010	0.0006	0.0013	0.0121	0.0009	0.0009	0.0114	0.0112	0.0001	0.0001	0	0.0002	0.0008	0.0016	0.0003	0.0008	0.0121	0.0007	0.0007	0.0006	0.0008	0.0120	0.0006	0.0006	0.0095	0.0086	4.808e-05	0	0.0002	0	0.0004	0.0004	0.0068	0.0005	0.0014	0.0120	0.223	0.20683	T	0.058	0.83351	T	0.998	0.73220	D	0.719	0.54822	P	0.261885	0.15298	N	0.593109	1	0.26228	N	1.095	0.27400	L	0.42	0.62762	T	-2.01	0.46337	N	0.106	0.10056	-0.8779	0.49927	T	0.212	0.57227	T	10	0.0059574842	0.00134	T	.	.	.	0.080	0.23350	.	.	0.65545073463	0.65257	0.3402054880712132	0.33933	0.129564647105	0.14605	0.194222182035	0.00309	T	0.051211	0.28814	T	-0.515461	0.00467	T	-0.502812	0.22056	T	0.0218854229234903	0.00896	T	0.0630937	0.00459	T	0.049570687	0.08822	0.036260642	0.03036	0.04108215	0.05984	0.036204055	0.03021	-4.812	0.34731	T	.	.	0.074	0.05017	B	.;.;.;.;.	.;.;.;.;.	0.946302	0.13224	9.723	0.35753011564347636	0.02262	0.28140	0.23472	N	AEFDBI	0.129018	0.24702	N	-0.777091853878372	0.13908	0.6886914	-0.897324951063852	0.12157	0.6237237	6.60427131453824E-4	0.07551	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	4.42	1.35	0.21078	-0.049000	0.11879	-4.488000	0.02131	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1387:0.6532:0.1338:0.0744	6.135	0.19446	493	0.76500	.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001033	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.05	2186.43	34	chr1	228224494	.	C	T	2186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.018;DP=851;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=2.12;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1443	9	0	1	0
chr1	228259762	228259762	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon17:c.G5123A:p.R1708H	.	0	1489	33	0	0	33	0.0109598	.	.	.	2816140	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0080	0.00239617	0.0084	0.0018	0.0030	0	0.0036	0.0133	0.0056	0.0024	0.0078783	1218	154602	rs147633098	0.0093	0.0093	0.0093	0.0093	0.0220	0.0092	0.0091	0.0189	0.0177	0.0016	0.0045	0.0283	0.0001	0.0060	0.0220	0.0102	0.0099	0.0026	0.0067	0.0067	0.0071	0.0063	0.0103	0.0064	0.0062	0.0097	0.0094	0.0017	0.0241	0.0046	0.0202	0	0.0051	0.0272	0.0103	0.0071	0.0017	.	.	.	0.081	0.41742	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.20609	N	.	.	.	3.56	0.04696	T	.	.	.	0.073	0.04668	-0.9723	0.36712	T	0.011	0.04321	T	6	0.003629744	0.00066	T	.	.	.	.	.	.	.	0.256793551483	0.25290	0.16994627065651727	0.16914	0.115633920596	0.13049	0.202615946531	0.00537	T	.	.	.	-0.695139	0.00039	T	-0.760908	0.03080	T	0.00463822941397851	0.00050	T	0.20008	0.02257	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	-0.010789	0.04210	1.027	0.81329423621141439	0.13632	0.01331	0.04588	N	AEFDBI	0.063747	0.12339	N	-0.793613011190379	0.13475	0.6641176	-0.938894624292241	0.11182	0.5680889	1.9642407017775E-4	0.05898	0.660377	0.49826	0	0.573888	0.26702	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	5.25	-2.54	0.05941	-1.658000	0.02079	-20.000000	0.00162	-0.887000	0.02411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6034:0.0:0.3966:0.0	12.965	0.57880	452	0.79239	Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	TRIM11|RP11-245P10.4|TRIM17|GUK1|TRIM11	Brain_Cerebellum|Brain_Cerebellum|Brain_Cerebellum|Brain_Nucleus_accumbens_basal_ganglia|Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	3074.43	38	chr1	228259762	.	G	A	3074.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.672;DP=541;ExcessHet=0;FS=7.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=-0.65;SOR=0.354	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	9	0	1	0
chr1	228274199	228274199	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon19:c.G5438A:p.R1813Q,OBSCN:NM_052843:exon19:c.G5438A:p.R1813Q,OBSCN:NM_001271223:exon23:c.G6563A:p.R2188Q	.	0	1502	19	1	0	21	0.00694215	.	.	.	2388335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	0.064508663187	7.8e-05	0.000399361	0.0005	0	0.0005	0	0	0.0003	0	0.0022	0.0004722	73	154602	rs201775103	0.0003	0.0003	0.0002	0.0003	0.0028	0.0002	0.0002	0.0021	0.0020	2.99e-05	0.0004	0.0007	0	0	0.0028	0.0001	0.0005	0.0023	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	2.405e-05	0	0.0001	0.0009	0	0	0.0034	0.0002	0.0009	0.0014	0.233	0.19639	T	0.25	0.28669	T	0.985	0.61118	D	0.405	0.44649	B	0.953482	0.08271	N	0.975502	1	0.08975	N	0.95	0.23787	L	-0.09	0.64086	T	-0.98	0.25986	N	0.157	0.16308	-0.9704	0.37115	T	0.125	0.42883	T	10	0.006353706	0.00143	T	0.064509	0.69300	D	0.078	0.22779	.	.	0.544128928594	0.54067	0.5569867715167525	0.55625	0.149307884708	0.16836	0.308165788651	0.11630	T	0.036894	0.24276	T	-0.533139	0.00368	T	-0.544141	0.17893	T	0.00772480962572594	0.00090	T	0.741226	0.36032	T	0.03028966	0.02666	0.039209414	0.03962	0.028013578	0.02075	0.045015827	0.05964	-6.069	0.46853	T	.	.	0.075	0.05447	B	.;.;.;.;.	.;.;.;.;.	1.465564	0.18885	13.98	0.97054960078936692	0.32167	0.02036	0.06099	N	AEFDBI	0.049309	0.08506	N	-0.811334921902654	0.13020	0.6385616	-0.894668923838448	0.12220	0.6273003	0.990011348564989	0.32009	0.653496	0.48692	0	0.59043	0.45803	0	0.596874	0.31795	0	0.491896	0.07777	0	.	.	5.25	-1.12	0.09306	0.161000	0.16298	-0.541000	0.08582	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.7089:0.0:0.2911:0.0	10.591	0.44501	442	0.79946	.;Immunoglobulin I-set;.;.;Immunoglobulin I-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1202.43	36	chr1	228274199	.	G	A	1202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.754;DP=443;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.314;SOR=0.606	GT:AD:DP:GQ:PL	0/1:42,54:96:99:1214,0,867	9	0	1	0
chr1	228294842	228294842	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon43:c.G11458A:p.V3820M,OBSCN:NM_052843:exon43:c.G11458A:p.V3820M,OBSCN:NM_001271223:exon48:c.G12745A:p.V4249M	.	0	1521	1	0	0	1	0.000328623	.	.	.	1789303	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.108	0.0029611393849	8.2e-05	.	4.971e-05	0	0	0.0005	0	1.5e-05	0	6.056e-05	3.88e-05	6	154602	rs371818048	2.875e-05	2.873e-05	1.634e-05	4.129e-05	0.0002	2.153e-05	1.909e-05	0.0001	0.0001	2.989e-05	6.734e-05	0	0.0002	1.873e-05	0	1.08e-05	1.657e-05	0.0002	4.601e-05	4.595e-05	2.573e-05	6.721e-05	0.0002	2.11e-05	1.527e-05	6.275e-05	4.295e-05	0.0001	0	0	0	0	0	0	0	0	0.0002	0.036	0.43393	D	0.012	0.69154	D	0.137	0.64070	B	0.027	0.56930	B	0.617039	0.05734	N	1.210850	1	0.08975	N	0.795	0.19620	N	3.42	0.05507	T	-0.73	0.21644	N	0.093	0.09914	-0.9528	0.40485	T	0.041	0.17488	T	10	0.11753315	0.22198	T	0.002961	0.06309	T	0.108	0.30607	.	.	0.0954503805726	0.09146	0.05251743736582365	0.05193	0.0931597170186	0.10528	0.218760341406	0.01239	T	0.031219	0.21942	T	-0.449387	0.01139	T	-0.574422	0.15046	T	0.0319732121479949	0.02302	T	0.0372963	0.00314	T	0.034858607	0.03992	0.05739778	0.10427	0.034858607	0.03991	0.05739778	0.10426	-5.078	0.42820	T	.	.	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	0.729372	0.10985	7.647	0.79170518590379479	0.12622	0.00127	0.00790	N	AEFBI	0.024789	0.01590	N	-1.18676425350641	0.05200	0.2364685	-1.28121666968211	0.04684	0.2215374	1.55386502629633E-4	0.05650	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.22	1.59	0.22622	0.224000	0.17520	-0.417000	0.09309	-2.657000	0.00221	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.8641:0.0:0.1359:0.0	12.982	0.57974	437	0.80299	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	4195.43	39	chr1	228294842	.	G	A	4195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=692;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.239;SOR=0.621	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	9	0	1	0
chr1	228350934	228350934	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon77:c.C18410T:p.P6137L,OBSCN:NM_052843:exon77:c.C18410T:p.P6137L,OBSCN:NM_001271223:exon88:c.C21281T:p.P7094L	.	2	1509	10	1	0	12	0.0039604	.	.	.	2221820	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.638	0.194871316883	0.0004	0.000798722	0.0007	0.0003	0.0006	0	0	0.0009	0	0.0010	0.0005951	92	154602	rs140996408	0.0005	0.0005	0.0005	0.0005	0.0025	0.0005	0.0005	0.0015	0.0012	0.0002	0.0011	0.0011	7.581e-05	0	0.0025	0.0005	0.0008	0.0006	0.0006	0.0006	0.0007	0.0005	0.0015	0.0005	0.0005	0.0010	0.0009	0.0001	0	0.0015	0.0012	0.0002	0	0.0068	0.0008	0.0005	0.0002	0.005	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	-0.57	0.71307	T	-7.31	0.95696	D	0.625	0.63968	0.264	0.86968	D	0.543	0.83180	D	10	0.4126108	0.56327	T	0.194871	0.86388	D	0.638	0.86181	.	.	0.862300235811	0.86097	0.5281541363243727	0.52739	0.478773972971	0.46940	0.569505691528	0.48608	T	0.291814	0.66455	T	-0.0755403	0.40437	T	0.0307691	0.72328	D	0.396077662706375	0.28794	T	0.940506	0.81786	D	0.61851376	0.73684	0.50629634	0.71466	0.5848341	0.71873	0.56942046	0.75070	-10.539	0.77071	D	.	.	0.672	0.71835	P	.;.;.;.;.	.;.;.;.;.	3.647353	0.51748	23.1	0.99437252398773512	0.64571	0.98107	0.79657	D	AEFBI	0.796856	0.72387	D	0.729831015424082	0.81589	7.557528	0.616545445392647	0.76142	6.436615	0.999999710429691	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.58	5.58	0.84361	7.249000	0.77709	7.594000	0.61341	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:1.0:0.0:0.0	19.553	0.95323	433	0.80627	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	534.43	34	chr1	228350934	.	C	T	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.894;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-1.228;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	9	0	1	0
chr1	228359746	228359746	G	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_052843:exon81:c.G18854C:p.G6285A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.026283531801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.074e-06	2.736e-06	1.373e-06	2.785e-06	0.0003	5.5e-07	1.5e-07	6.135e-05	2.537e-05	0	0	0	0	0	0.0003	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.09458	T	0.353	0.17320	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	0.57	0.54347	T	0.53	0.02808	N	0.077	0.05162	-0.9985	0.30339	T	0.106	0.38783	T	9	0.09860602	0.17840	T	0.026284	0.49208	D	0.118	0.32913	0.146	0.04941	0.334659703779	0.33074	.	.	.	.	.	.	.	.	.	.	-0.292827	0.09354	T	-0.658402	0.08375	T	0.034996896982193	0.02807	T	0.352865	0.07937	T	.	.	.	.	.	.	.	.	-3.504	0.16487	T	.	.	.	.	.	.	.	0.941003	0.13168	9.668	0.21074663912941602	0.00787	0.43828	0.27184	N	AEFBCI	0.148834	0.27280	N	-0.799237922149287	0.13330	0.6559095	-0.756720476527392	0.15557	0.8187969	0.0163916783769564	0.12826	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	2.18	0.26813	3.199000	0.50745	3.038000	0.36069	-0.847000	0.02749	0.998000	0.41325	0.966000	0.29516	0.044000	0.14658	0.1647:0.153:0.6823:0.0	6.291	0.20267	430	0.80826	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	566.43	36	chr1	228359746	.	G	C	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.94;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.03;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,915	9	0	1	0
chr1	228458208	228458208	G	A	exonic	H2BU1	.	nonsynonymous SNV	H2BU1:NM_175055:exon1:c.G79A:p.G27S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00405835674396	.	.	2.475e-05	0	0	0	0	3.003e-05	0	6.086e-05	1.94e-05	3	154602	rs369836649	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0009	7.08e-06	5.79e-06	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	8.993e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.38160	T	0.149	0.27956	B	0.046	0.24676	B	0.000197	0.48115	D	0.000000	0.999677	0.48205	D	1.87	0.49600	L	.	.	.	.	.	.	0.264	0.29889	-1.0898	0.05565	T	0.045	0.19316	T	10	0.15058169	0.28478	T	0.004058	0.09681	T	.	.	0.292	0.25400	0.509583022956	0.50597	0.1546868903304836	0.15389	.	.	0.730206251144	0.71536	T	0.182546	0.53460	T	0.0725916	0.61163	D	-0.0366495	0.67927	D	0.813148021697998	0.47272	D	.	.	.	0.34120977	0.56375	0.46386588	0.68878	0.34120977	0.56375	0.46386588	0.68879	-6.92	0.53447	T	.	.	0.087	0.11269	B	.	.	3.713959	0.53031	23.3	0.9969301567844312	0.80044	0.65777	0.32851	D	AEFGBHCIJ	0.722162	0.67218	D	-0.0609191309425789	0.39117	2.301627	0.0307302989054863	0.41150	2.467416	0.999999999999851	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.94	3.03	0.34070	6.193000	0.71999	3.491000	0.38715	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.1032:0.0:0.8968:0.0	9.759	0.39691	320	0.86992	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001057	0.000000	0.000000	0.008197	0.000000	0.000000	0.000000	0.000000	0.05	3346.43	265	chr1	228458208	.	G	A	3346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.17;DP=596;ExcessHet=0;FS=2.104;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.99;MQRankSum=0.203;QD=12.63;ReadPosRankSum=-0.447;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr1	229486489	229486489	G	A	exonic	NUP133	.	nonsynonymous SNV	NUP133:NM_018230:exon11:c.C1382T:p.P461L	.	432	1083	7	0	0	7	0.00322135	.	.	.	2058436	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.303	.	0.0111	0.00998403	0.0034	0.0310	0.0023	0	0	0.0008	0.0022	0.0010	0.0033117	512	154602	rs35442997	0.0014	0.0015	0.0016	0.0013	0.0350	0.0014	0.0014	0.0334	0.0327	0.0350	0.0027	0.0045	0	0	0.0092	0.0004	0.0026	0.0013	0.0096	0.0096	0.0101	0.0090	0.0322	0.0092	0.0090	0.0308	0.0302	0.0322	0	0.0043	0.0038	0	0	0.0068	0.0004	0.0066	0.0004	0.015	0.52492	D	0.01	0.65728	D	0.901	0.49677	P	0.475	0.46927	P	0.000247	0.46924	N	0.251116	1	0.81001	D	2.645	0.77386	M	1.04	0.40218	T	-7.49	0.95015	D	0.848	0.84401	-1.0437	0.16207	T	0.035	0.15030	T	10	0.011242628	0.00247	T	.	.	.	0.303	0.62400	.	.	0.596373027241	0.59316	0.8607316831539459	0.86037	0.654707559036	0.58537	0.51627779007	0.41103	T	0.689195	0.90947	D	-0.371551	0.03517	T	-0.282109	0.46588	T	0.0792954601727821	0.09895	T	0.863714	0.56064	D	0.663883	0.76106	0.33143714	0.59002	0.663883	0.76107	0.33143714	0.59002	-7.718	0.59133	D	.	.	0.311	0.53853	B	.	.	4.685243	0.75020	26.3	0.99473740723852122	0.66472	0.98688	0.85598	D	AEFBI	0.492064	0.52886	N	0.227933375759623	0.52558	3.429105	0.235388365812326	0.51823	3.361534	0.987688502237334	0.31320	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.21	4.3	0.50540	6.731000	0.74591	8.628000	0.77841	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0737:0.0:0.9263:0.0	13.987	0.63854	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013092	0.010101	0.023098	0.014620	0.000000	0.000000	0.006098	0.003788	0.05	1473.43	34	chr1	229486489	.	G	A	1473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.981;DP=468;ExcessHet=0;FS=4.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.334;SOR=0.423	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	9	0	1	0
chr1	229558205	229558205	C	A	exonic	ABCB10	.	nonsynonymous SNV	ABCB10:NM_012089:exon1:c.G448T:p.A150S	.	474	1042	6	0	0	6	0.00287081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	0.0171725	0.0037	0	0	0.01	.	0.0019	0.0167	0.0039	0.0020116	311	154602	rs4148756	0.0041	0.0044	0.0042	0.0041	0.0971	0.0040	0.0040	0.0940	0.0927	0.0006	0.0482	0.0004	0.0971	0.0208	0.0014	0.0005	0.0049	0.0021	0.0072	0.0072	0.0061	0.0084	0.0456	0.0068	0.0067	0.0408	0.0390	0.0012	0	0.0343	0	0.0456	0.0147	0	0.0011	0.0156	0.0043	0.255	0.16848	T	0.299	0.20422	T	0.018	0.17786	B	0.008	0.13708	B	0.459200	0.12412	N	0.710029	1	0.08975	N	0.985	0.24966	L	-2.26	0.87352	D	-0.19	0.09965	N	0.113	0.10056	-1.0237	0.22508	T	0.053	0.22423	T	10	0.0018955469	0.00026	T	.	.	.	0.087	0.25287	.	.	.	.	0.17563211044986582	0.17482	0.338778568637	0.35842	0.753332853317	0.74939	T	0.015786	0.13173	T	-0.403426	0.02198	T	-0.265417	0.48283	T	0.0247504426443428	0.01240	T	0.337566	0.07230	T	0.04225667	0.06374	0.06964805	0.14701	0.04225667	0.06374	0.06964805	0.14700	-5.485	0.41728	T	.	.	0.093	0.14108	B	.	.	0.854645	0.12271	8.811	0.89775729279939165	0.19091	0.03331	0.08406	N	ALL	0.022701	0.01168	N	-1.03960194683951	0.07793	0.3632279	-1.05076203629099	0.08691	0.4285844	0.999999999999807	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.98	1.59	0.22622	0.041000	0.13813	-0.878000	0.07076	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1306:0.651:0.2184:0.0	9.593	0.38722	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	91.45	19	chr1	229558205	.	C	A	91.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=134;ExcessHet=0;FS=0;InbreedingCoeff=-0.0541;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=2.45;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,162	9	0	1	0
chr1	229594944	229594944	T	C	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_014409:exon5:c.A1123G:p.T375A	.	424	1070	28	0	0	28	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.041030562328	0.0018	0.000798722	0.0018	0.0002	0.0017	0	0.0002	0.0022	0.0011	0.0028	0.0016753	259	154602	rs41304137	0.0015	0.0015	0.0014	0.0017	0.0075	0.0015	0.0015	0.0057	0.0051	0.0002	0.0021	0.0035	0	3.744e-05	0.0075	0.0015	0.0021	0.0025	0.0014	0.0014	0.0016	0.0012	0.0022	0.0012	0.0012	0.0019	0.0018	0.0001	0	0.0016	0.0043	0	0	0.0034	0.0022	0.0033	0.0019	0.002	0.72154	D	0.028	0.54934	D	0.998	0.73220	D	0.905	0.64260	P	0.000002	0.62929	D	0.134455	0.999991	0.58761	D	0.845	0.21182	L	-1.46	0.80983	T	-3.35	0.66436	D	0.435	0.47395	-0.2505	0.76346	T	0.434	0.77452	T	10	0.013750076	0.00291	T	0.041031	0.59702	D	0.490	0.77720	.	.	0.769446296808	0.76733	0.29677258180428256	0.29590	1.12360715339	0.78375	0.678666114807	0.64078	T	0.301206	0.67366	T	-0.236463	0.15802	T	-0.117366	0.62018	T	0.0680710538834115	0.08378	T	0.857914	0.54791	D	0.4239527	0.62354	0.47594044	0.69633	0.4239527	0.62355	0.47594044	0.69634	-5.77	0.44312	T	.	.	0.096	0.16054	B	.;.	.;.	4.074489	0.60568	24.2	0.9983002637239563	0.91198	0.98171	0.80217	D	AEFDBI	0.651621	0.62531	D	0.382703484073972	0.60485	4.237883	0.438231524770192	0.63965	4.641191	0.999994111094632	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.88	4.75	0.59954	6.270000	0.72545	7.850000	0.70922	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1321:0.8678	13.298	0.59746	520	0.74355	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.008152	0.005848	0.000000	0.017241	0.015244	0.022727	0.05	2677.43	43	chr1	229594944	.	T	C	2677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.09;DP=560;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.449;SOR=0.68	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr1	229635080	229635080	C	T	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon4:c.C467T:p.S156L,URB2:NM_014777:exon4:c.C467T:p.S156L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0088	0.00858626	0.0022	0.0248	0.0006	0	0	6.009e-05	0	0	0.0022057	341	154602	rs115641620	0.0008	0.0008	0.0010	0.0007	0.0278	0.0008	0.0008	0.0263	0.0257	0.0278	0.0013	0	0	0	0.0024	0.0001	0.0017	4.64e-05	0.0073	0.0073	0.0078	0.0069	0.0257	0.0070	0.0068	0.0244	0.0239	0.0257	0	0.0017	0	0	0	0.0034	0.0002	0.0043	0	1.0	0.00964	T	0.934	0.02742	T	0.0	0.02946	B	0.0	0.01387	B	0.756927	0.09654	N	0.884065	1	0.08975	N	-0.445	0.02820	N	2.93	0.09822	T	1.74	0.00550	N	0.076	0.05037	-0.9573	0.39681	T	0.005	0.01651	T	9	0.0020188391	0.00028	T	.	.	.	0.104	0.29647	.	.	0.170165803431	0.16609	0.15993611947617298	0.15914	0.0727439940012	0.08152	0.320151597261	0.13444	T	0.018591	0.14961	T	-0.760009	0.00015	T	-0.842165	0.01066	T	0.00398967222480147	0.00042	T	0.59944	0.22338	T	0.032948308	0.03418	0.042877562	0.05207	0.032948308	0.03417	0.042877562	0.05206	-1.406	0.01582	T	.	.	0.063	0.01555	B	.	.	-0.973429	0.00809	0.027	0.19582083987002741	0.00667	0.02902	0.07697	N	AEFDBCI	0.023165	0.01253	N	-1.77738387545786	0.00603	0.02597671	-1.81066280415555	0.00726	0.03233553	0.999995522722188	0.74766	0.67177	0.52595	0	0.552637	0.17590	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.68	-7.55	0.01185	0.360000	0.19987	-0.450000	0.09105	-1.674000	0.00795	0.051000	0.21449	0.000000	0.08366	0.004000	0.06068	0.0:0.1135:0.0:0.8865	19.927	0.97106	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.005051	0.012228	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1382.43	93	chr1	229635080	.	C	T	1382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.322;DP=422;ExcessHet=0;FS=2.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.614;SOR=0.83	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1057	9	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K,URB2:NM_014777:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	151.3	117	chr1	229659277	.	G	A	151.3	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-2.176;DP=843;ExcessHet=0.2348;FS=268.231;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=1;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.22;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:53,0:53:0:.:.:0,0,1141:.	0	0	2	8
chr1	230710441	230710441	G	A	exonic	AGT	.	nonsynonymous SNV	AGT:NM_001382817:exon2:c.C383T:p.T128M,AGT:NM_001384479:exon2:c.C383T:p.T128M	Renal tubular dysgenesis, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	732255	Essential_hypertension,_genetic|Renal_tubular_dysgenesis_of_genetic_origin|AGT-related_disorder|not_provided|Renal_tubular_dysgenesis	MONDO:MONDO:0007781,MedGen:CN305331,OMIM:145500|MONDO:MONDO:0009970,MedGen:C5681536,OMIM:267430,Orphanet:97369|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.274	0.0650232041908	0.0037	0.00219649	0.0032	0.0011	0.0006	0.0001	0.0006	0.0038	0.0011	0.0065	0.003247	502	154602	rs34829218	0.0050	0.0050	0.0051	0.0050	0.0062	0.0050	0.0049	0.0058	0.0056	0.0013	0.0012	0.0023	0.0001	0.0004	0.0017	0.0056	0.0066	0.0062	0.0032	0.0032	0.0036	0.0027	0.0056	0.0030	0.0029	0.0048	0.0046	0.0014	0	0.0025	0.0020	0.0004	9.407e-05	0	0.0052	0.0005	0.0056	0.168	0.23007	T	0.305	0.20037	T	0.62	0.39915	P	0.106	0.31143	B	0.611642	0.05704	N	1.180660	1	0.08975	N	1.89	0.50145	L	-1.79	0.83815	D	-0.3	0.11913	N	0.15	0.15328	-0.8007	0.55103	T	0.263	0.63383	T	10	0.015063405	0.00316	T	0.065023	0.69454	D	0.274	0.59007	.	.	0.848757901837	0.84730	0.24359545680352862	0.24273	0.0681984301376	0.07639	0.236947342753	0.02522	T	0.255942	0.62680	T	-0.469362	0.00858	T	-0.444371	0.28320	T	0.00722227715113186	0.00083	T	0.573243	0.20505	T	0.060462918	0.12410	0.062347665	0.12184	0.060462918	0.12410	0.062347665	0.12183	-3.837	0.21358	T	.	.	0.084	0.09772	B	.	.	1.324243	0.17287	13.07	0.88818795352835911	0.18281	0.06668	0.12687	N	AEFDBCI	0.385052	0.46594	N	-0.999996565577523	0.08604	0.4040506	-1.09620397908141	0.07774	0.379504	0.999995389417063	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.09	-2.34	0.06321	0.689000	0.25118	1.147000	0.24451	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.5684:0.0:0.4316:0.0	11.791	0.51343	934	0.15400	Serpin domain|Serpin domain|Angiotensinogen serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2634.43	35	chr1	230710441	.	G	A	2634.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=563;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.367;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr1	230779052	230779052	G	A	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_001319676:exon7:c.G844A:p.A282T,CAPN9:NM_016452:exon8:c.G955A:p.A319T,CAPN9:NM_006615:exon9:c.G1033A:p.A345T	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.003028079344	0.0003	0.00139776	0.0008	0.0004	8.661e-05	0	0	2.999e-05	0	0.0058	0.0007244	112	154602	rs145648359	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	8.964e-05	8.944e-05	0	5.038e-05	0	0.0005	9.893e-06	0.0005	0.0052	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0034	0.0029	0.0003	0	0	0	0	0	0	0	0	0.0050	0.819	0.04134	T	0.557	0.09329	T	0.001	0.12183	B	0.001	0.08700	B	0.019297	0.27290	N	0.446021	0.999154	0.23364	N	-0.805	0.01590	N	2.38	0.15843	T	0.22	0.04694	N	0.065	0.11912	-0.9565	0.39825	T	0.017	0.06950	T	10	0.0029343069	0.00047	T	0.003028	0.06517	T	0.015	0.02232	.	.	0.107399877778	0.10242	0.2258574004423752	0.22500	0.0795836150917	0.08952	0.32239061594	0.13782	T	0.016286	0.13489	T	-0.620738	0.00109	T	-0.663195	0.08052	T	0.00375653606391011	0.00040	T	0.186981	0.06128	T	0.024228241	0.01234	0.04369956	0.05494	0.024228241	0.01234	0.04369956	0.05494	-3.09	0.11182	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	-0.374293	0.02310	0.245	0.78043293907098654	0.12131	0.04494	0.10113	N	AEFDBI	0.078351	0.15806	N	-1.39544858709246	0.02681	0.1187079	-1.39452214026194	0.03310	0.1541423	0.876791583296278	0.25532	0.487112	0.14033	0	0.547309	0.14657	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.24	-2.63	0.05775	0.289000	0.18713	-0.852000	0.07174	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.5965:0.0:0.4035:0.0	11.923	0.52085	889	0.27310	Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001521	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1993.43	43	chr1	230779052	.	G	A	1993.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.055;DP=519;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=2.72;SOR=0.663	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1218	9	0	1	0
chr1	230990117	230990117	G	A	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon3:c.G302A:p.G101E,ARV1:NM_022786:exon3:c.G302A:p.G101E	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	436	1043	41	2	0	45	0.0211168	.	.	.	707195	not_provided|ARV1-related_disorder	MedGen:C3661900|MedGen:CN235539	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0046	0.00519169	0.0056	0.0011	0.0016	0	0.0005	0.0044	0.0066	0.0216	0.0054204	838	154602	rs35764859	0.0068	0.0068	0.0064	0.0072	0.0203	0.0067	0.0067	0.0195	0.0191	0.0012	0.0020	0.0050	7.62e-05	0.0004	0.0126	0.0066	0.0089	0.0203	0.0041	0.0041	0.0043	0.0039	0.0195	0.0038	0.0037	0.0163	0.0151	0.0010	0	0.0033	0.0032	0	0.0003	0.0204	0.0061	0.0038	0.0195	0.377	0.17761	T	0.817	0.39492	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.055422	1	0.81001	D	1.75	0.45442	L	1.04	0.40218	T	-2.05	0.53577	N	0.84	0.83576	-1.0017	0.29430	T	0.138	0.45583	T	10	0.012885034	0.00275	T	.	.	.	0.256	0.56694	.	.	0.902235681755	0.90125	0.7012005147172009	0.70061	0.783812259885	0.65410	0.61260843277	0.54685	T	0.132561	0.51226	T	-0.30417	0.08272	T	-0.193439	0.55267	T	0.0165582415434583	0.00418	T	0.930707	0.74322	D	0.6035068	0.72879	0.68881744	0.81694	0.629531	0.74274	0.68881744	0.81694	-9.63	0.71665	D	0.4046614240751881	0.49594	0.487	0.73409	A	.;.	.;.	5.299921	0.88975	29.8	0.99815137079353544	0.89885	0.98673	0.85416	D	AEFBI	0.927170	0.90941	D	0.586677778091351	0.72343	5.790699	0.659699080626773	0.79335	7.060692	0.999999999999997	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	7.584000	0.81862	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	801	0.44448	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017120	0.005051	0.010870	0.032164	0.000000	0.017241	0.021341	0.003788	0.05	888.43	33	chr1	230990117	.	G	A	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=372;ExcessHet=0;FS=11.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.478;SOR=2.116	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	9	0	1	0
chr1	230997144	230997144	C	G	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_022786:exon5:c.C697G:p.L233V,ARV1:NM_001346992:exon6:c.C796G:p.L266V	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0101483338477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.036e-05	0	8.253e-06	4.498e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.28395	T	0.513	0.34959	T	0.015	0.17086	B	0.014	0.16862	B	0.014201	0.28601	N	0.326590	0.719665	0.29934	N	1.825	0.47900	L	2.42	0.15376	T	-0.57	0.17210	N	0.247	0.28498	-0.8946	0.48521	T	0.144	0.46696	T	10	0.14695045	0.27852	T	0.010148	0.26346	T	0.059	0.16972	0.52	0.62217	0.144782658237	0.14088	0.2988496531613489	0.29797	0.17694831345	0.19912	0.310675978661	0.12009	T	0.09055	0.41284	T	-0.2449	0.14731	T	-0.589559	0.13704	T	0.117653772953737	0.14198	T	0.676632	0.28519	T	0.03048213	0.02720	0.040253986	0.04309	0.03048213	0.02720	0.040253986	0.04309	-3.687	0.19127	T	0.2753478568538036	0.36973	0.073	0.10545	B	.;.	.;.	1.557274	0.19948	14.52	0.99655455466797294	0.77568	0.71254	0.34934	D	AEFBI	0.221071	0.34575	N	-0.0241663539820327	0.40764	2.426392	-0.0284452048485475	0.38436	2.264444	0.251855964395319	0.18688	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.42	4.42	0.52775	0.782000	0.26449	0.619000	0.20111	0.597000	0.34315	0.358000	0.25825	0.992000	0.31684	0.933000	0.47100	0.0:0.9124:0.0:0.0876	11.425	0.49247	791	0.46100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	89.05	100	chr1	230997144	.	C	G	89.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.121;DP=469;ExcessHet=0;FS=62.969;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.52;SOR=6.517	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1428	8	0	1	1
chr1	231163820	231163820	C	G	exonic	TRIM67	.	nonsynonymous SNV	TRIM67:NM_001004342:exon1:c.C851G:p.P284R,TRIM67:NM_001300889:exon3:c.C665G:p.P222R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.448068933746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	6.156e-06	4.34e-06	2.974e-06	2.827e-06	1.07e-06	7.8e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.827e-06	3.56e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.007	0.69154	D	0.017	0.17573	B	0.003	0.08700	B	0.194026	0.16770	U	0.415459	0.632497	0.37103	D	0.695	0.17993	N	-0.44	0.69777	T	-0.86	0.23372	N	0.4	0.53357	-0.8649	0.50908	T	0.131	0.44188	T	10	0.18112323	0.33329	T	0.448069	0.94290	D	0.089	0.25827	0.352	0.35084	0.215239754934	0.21150	0.4249061083984774	0.42407	0.779126380547	0.65190	0.835858166218	0.87462	D	0.018682	0.29158	T	-0.0529135	0.44003	T	-0.313783	0.43250	T	0.396483024167246	0.28809	T	0.686031	0.30897	T	0.15040798	0.34242	0.17603198	0.40109	0.15040798	0.34242	0.17603198	0.40108	-4.092	0.25172	T	.	.	0.114	0.26169	B	.;.;.	.;.;.	3.068438	0.41238	21.3	0.98875667035882897	0.47736	0.68639	0.33878	D	AEFDBIJ	0.177255	0.30449	N	-0.441498759719101	0.24030	1.294623	-0.274872992849919	0.28928	1.616784	0.999999817930416	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.5	4.5	0.54382	3.945000	0.56346	4.601000	0.43997	0.467000	0.21759	0.990000	0.36992	1.000000	0.68203	0.283000	0.24091	0.0:0.8247:0.1753:0.0	11.973	0.52364	798	0.45050	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	838.43	36	chr1	231163820	.	C	G	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.091;DP=384;ExcessHet=0;FS=2.417;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.212;SOR=0.386	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	231767229	231767229	C	T	exonic	DISC1	.	nonsynonymous SNV	DISC1:NM_001164556:exon3:c.C308T:p.T103M,DISC1:NM_001012957:exon5:c.C1358T:p.T453M,DISC1:NM_001012959:exon5:c.C1358T:p.T453M,DISC1:NM_001164538:exon5:c.C1358T:p.T453M,DISC1:NM_001164539:exon5:c.C1358T:p.T453M,DISC1:NM_001164541:exon5:c.C1358T:p.T453M,DISC1:NM_001164542:exon5:c.C1358T:p.T453M,DISC1:NM_001164544:exon5:c.C1358T:p.T453M,DISC1:NM_001164545:exon5:c.C1358T:p.T453M,DISC1:NM_001164546:exon5:c.C1358T:p.T453M,DISC1:NM_001164547:exon5:c.C1358T:p.T453M,DISC1:NM_001164548:exon5:c.C1358T:p.T453M,DISC1:NM_001164549:exon5:c.C1358T:p.T453M,DISC1:NM_018662:exon5:c.C1358T:p.T453M,DISC1:NM_001164537:exon6:c.C1454T:p.T485M	.	424	1081	17	0	0	17	0.00780174	.	.	.	3207149	DISC1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.114	0.00896775730547	0.0020	0.00139776	0.0035	0.0004	0.0015	0	0.0041	0.0033	0.0033	0.0091	0.0032406	501	154602	rs28930675	0.0039	0.0039	0.0037	0.0041	0.0093	0.0038	0.0038	0.0088	0.0086	0.0005	0.0020	0.0085	5.038e-05	0.0037	0.0038	0.0037	0.0040	0.0093	0.0029	0.0029	0.0027	0.0030	0.0058	0.0026	0.0026	0.0041	0.0036	0.0005	0.0164	0.0017	0.0078	0	0.0053	0	0.0038	0.0028	0.0058	0.122	0.29029	T	0.149	0.74150	T	0.988	0.62325	D	0.59	0.52893	P	0.037752	0.24364	N	0.423266	0.999871	0.19925	N	1.735	0.44892	L	2.28	0.17271	T	-2.09	0.47683	N	0.334	0.39861	-1.1039	0.03651	T	0.057	0.23980	T	10	0.011221498	0.00246	T	0.008968	0.23631	T	0.114	0.32008	.	.	0.400033932507	0.39614	0.1761544871001625	0.17534	0.545902157338	0.51602	0.40287950635	0.25470	T	0.378576	0.74152	T	-0.491059	0.00641	T	-0.470758	0.25434	T	0.0100088228678786	0.00134	T	0.868313	0.57527	D	0.037602905	0.04853	0.08156865	0.18549	0.037602905	0.04852	0.08156865	0.18548	-4.354	0.37717	T	.	.	0.174	0.38208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.576273	0.50395	22.9	0.99821693904679432	0.90414	0.47723	0.28047	N	AEFBI	0.103985	0.20818	N	0.0459471302678091	0.43956	2.678572	-0.0864796244338646	0.35948	2.085954	0.0503693159255797	0.14837	0.615465	0.37627	0	0.610034	0.51514	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	3.74	3.74	0.42108	1.725000	0.37696	0.824000	0.21882	0.596000	0.33519	0.457000	0.26620	0.000000	0.08366	0.444000	0.27761	0.0:0.8923:0.0:0.1077	9.070	0.35647	827	0.39843	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000519	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2515.43	200	chr1	231767229	.	C	T	2515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.573;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.345;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	9	0	1	0
chr1	232404173	232404173	C	T	exonic	SIPA1L2	.	nonsynonymous SNV	SIPA1L2:NM_020808:exon20:c.G4768A:p.D1590N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.0653831593121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.15717	T	0.534	0.09965	T	0.997	0.70673	D	0.996	0.84481	D	0.000133	0.49741	D	0.144113	0.886827	0.81001	D	1.5	0.37844	L	-1.19	0.78427	T	-0.44	0.14588	N	0.544	0.57092	-0.2718	0.75763	T	0.477	0.79956	T	10	0.51560795	0.62348	D	0.065383	0.69562	D	0.342	0.66392	0.248	0.18447	0.615786021841	0.61267	0.21456721783763197	0.21372	0.260548508793	0.28619	0.601792216301	0.53157	T	0.010165	0.09205	T	-0.106076	0.35417	T	-0.390148	0.34534	T	0.880663692951202	0.53069	D	0.859914	0.55237	D	0.12303025	0.28897	0.11804504	0.28497	0.12303025	0.28897	0.11804504	0.28496	-4.651	0.32806	T	.	.	0.127	0.27039	B	.;.	.;.	4.253464	0.64587	24.7	0.99816989586432225	0.90061	0.94928	0.62818	D	AEFBI	0.686919	0.64843	D	0.539698786034862	0.69456	5.359639	0.58738873546575	0.74035	6.069069	0.999982909128397	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.5	5.5	0.81386	5.594000	0.67248	7.674000	0.64943	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.828	0.88584	964	0.07719	Signal-induced proliferation-associated 1-like protein, C-terminal;Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	797.43	35	chr1	232404173	.	C	T	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.277;DP=389;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.073;SOR=0.861	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1045	9	0	1	0
chr1	232969912	232969912	G	A	exonic	NTPCR	.	nonsynonymous SNV	NTPCR:NM_032324:exon4:c.G298A:p.D100N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00781237384782	.	.	1.648e-05	0	8.637e-05	0	0	0	0	6.058e-05	3.84e-05	1	26028	rs754606170	1.026e-05	1.026e-05	8.17e-06	1.238e-05	2.323e-05	6.16e-06	4.89e-06	5.31e-06	3.88e-06	0	2.236e-05	0	0	0	0	9.895e-06	1.657e-05	2.323e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0005	0	0.64	0.13219	T	0.477	0.14588	T	0.0	0.07471	B	0.001	0.06944	B	0.774852	0.06619	N	1.095660	1	0.08975	N	0.28	0.10031	N	1.0	0.41392	T	-0.32	0.17417	N	0.047	0.01911	-1.0113	0.26510	T	0.049	0.20868	T	10	0.039586753	0.02459	T	0.007812	0.20720	T	0.015	0.02232	0.314	0.28935	0.18995819373	0.18626	0.2855120344657044	0.28464	0.182692352002	0.20537	0.254825204611	0.04293	T	0.016443	0.13591	T	-0.49049	0.00646	T	-0.760804	0.03084	T	0.0164328701064573	0.00409	T	0.351965	0.07883	T	0.032546476	0.03302	0.02173473	0.00215	0.032546476	0.03302	0.02173473	0.00215	-3.849	0.21538	T	.	.	0.085	0.10691	B	.;.	.;.	0.733240	0.11023	7.682	0.62995921815827505	0.07107	0.23318	0.22037	N	AEFDGBI	0.132500	0.25182	N	-1.22538020833436	0.04635	0.2095752	-1.19802097080456	0.05943	0.2846271	0.991464316225364	0.32498	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.59	1.7	0.23359	0.524000	0.22648	0.938000	0.22831	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.376:0.1639:0.4601:0.0	4.267	0.10218	940	0.13648	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	495.43	33	chr1	232969912	.	G	A	495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=2.48;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,957	9	0	1	0
chr1	232986367	232986367	C	T	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon33:c.G5965A:p.A1989T	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0021	0.00199681	0.0051	0.0002	0.0028	0.0002	0.0005	0.0054	0.0161	0.0098	0.0025808	399	154602	rs189263803	0.0023	0.0023	0.0021	0.0025	0.0078	0.0022	0.0022	0.0073	0.0072	0.0002	0.0011	0.0141	0	3.837e-05	0.0053	0.0019	0.0030	0.0078	0.0016	0.0015	0.0015	0.0017	0.0062	0.0014	0.0013	0.0045	0.0039	0.0002	0	0.0010	0.0115	0	0	0.0136	0.0019	0.0024	0.0062	1.0	0.00964	T	1.0	0.06903	T	0.0	0.02946	B	0.0	0.01387	B	0.433953	0.12712	N	0.729854	0.999758	0.20482	N	-2.3	0.00097	N	3.23	0.21473	T	1.57	0.00677	N	0.14	0.13911	-0.9931	0.31801	T	0.012	0.04510	T	10	0.0030025244	0.00049	T	.	.	.	0.062	0.17934	.	.	0.0401082797425	0.02173	0.13921839684612464	0.13844	0.144453412496	0.16320	0.33875721693	0.16252	T	6.02E-4	0.00251	T	-0.689983	0.00042	T	-0.757775	0.03192	T	0.000477364705026022	0.00004	T	0.284972	0.05045	T	0.026253127	0.01660	0.038096868	0.03603	0.026253127	0.01660	0.038096868	0.03603	-3.383	0.14829	T	.	.	0.055	0.00820	B	.;.	.;.	0.396921	0.07682	4.356	0.34823454421313882	0.02151	0.07750	0.13750	N	AEFDBCI	0.027067	0.02146	N	-1.21310237676887	0.04808	0.2178275	-1.02008771664494	0.09343	0.4643311	0.989150162898865	0.31739	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.71	2.02	0.25641	0.957000	0.28812	0.532000	0.19257	-0.114000	0.14653	1.000000	0.71638	0.999000	0.35428	0.798000	0.37648	0.1174:0.0643:0.123:0.6953	4.854	0.12913	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007599	0.010417	0.006793	0.000000	0.000000	0.017544	0.003106	0.022727	0.05	1928.43	105	chr1	232986367	.	C	T	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.428;DP=466;ExcessHet=0;FS=5.241;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.37;ReadPosRankSum=-2.104;SOR=0.333	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	9	0	1	0
chr1	232986426	232986426	G	A	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon33:c.C5906T:p.T1969M	.	427	1061	34	0	0	34	0.0157699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.014307487645	0.0052	0.00319489	0.0068	0.0005	0.0049	0	0.0031	0.0097	0.0094	0.0039	0.0046895	725	154602	rs151123406	0.0058	0.0058	0.0058	0.0058	0.0265	0.0057	0.0056	0.0231	0.0218	0.0026	0.0039	0.0078	2.535e-05	0.0022	0.0265	0.0063	0.0081	0.0027	0.0048	0.0048	0.0053	0.0043	0.0075	0.0045	0.0044	0.0070	0.0067	0.0016	0	0.0037	0.0112	0	0.0018	0.0374	0.0075	0.0080	0.0019	0.286	0.15201	T	0.299	0.27591	T	0.975	0.59675	D	0.34	0.43183	B	0.021196	0.26883	N	0.387309	0.999996	0.08975	N	1.7	0.43825	L	3.02	0.24085	T	-1.88	0.43906	N	0.446	0.48411	-0.9446	0.41879	T	0.048	0.20632	T	10	0.0062434077	0.00141	T	0.014307	0.34341	T	0.051	0.14325	.	.	0.44349138644	0.43972	0.42160185884728235	0.42076	0.179854413381	0.20231	0.399910956621	0.25056	T	0.004435	0.03837	T	-0.505575	0.00532	T	-0.494435	0.22927	T	0.0129233807055611	0.00223	T	0.853215	0.53849	D	0.06774857	0.14698	0.078936145	0.17725	0.06774857	0.14698	0.078936145	0.17725	-5.275	0.40249	T	.	.	0.095	0.28550	B	.;.	.;.	3.304303	0.45370	22.1	0.93333390136127492	0.23060	0.16899	0.19599	N	AEFDBCI	0.083401	0.16896	N	-0.0540393799874569	0.39421	2.324528	-0.112608399836134	0.34881	2.011497	0.999696701098321	0.41870	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.85	4.94	0.64645	2.312000	0.43386	3.485000	0.38675	0.676000	0.76740	0.212000	0.24446	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.7273:0.2727	14.133	0.64798	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026210	0.025253	0.039402	0.026471	0.050000	0.017544	0.012195	0.015152	0.05	1225.43	43	chr1	232986426	.	G	A	1225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=486;ExcessHet=0;FS=4.215;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.242;SOR=1.095	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1161	9	0	1	0
chr1	234398495	234398495	A	G	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon26:c.T4130C:p.I1377T	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00428299668018	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0003	0.0011	0.0006	0.0002393	37	154602	rs138599154	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	5.981e-05	0.0001	0.0023	2.524e-05	0	0.0023	7.93e-05	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.655e-05	7.248e-05	0.0002	8.375e-05	7.214e-05	0	6.533e-05	0.0003	0.0006	0	0	0.0001	0.0005	0.0002	0.154	0.24277	T	0.201	0.27503	T	0.116	0.26475	B	0.036	0.22909	B	0.002224	0.36970	N	0.271381	1	0.08975	N	1.39	0.34934	L	3.4	0.05642	T	-0.39	0.13611	N	0.084	0.06059	-0.9643	0.38350	T	0.018	0.07282	T	10	0.010417283	0.00232	T	0.004283	0.10373	T	0.119	0.33137	.	.	0.112648838833	0.10856	0.342553738638931	0.34168	0.0460589994829	0.05005	0.352499783039	0.18289	T	0.010785	0.09704	T	-0.555261	0.00271	T	-0.655875	0.08548	T	0.0275808968812889	0.01628	T	0.747925	0.36851	T	0.048386093	0.08426	0.045727223	0.06218	0.048386093	0.08425	0.045727223	0.06217	-3.179	0.12226	T	.	.	0.065	0.02012	B	.	.	1.996617	0.25370	16.74	0.9079720496356436	0.20046	0.65849	0.32876	D	AEFBI	0.084863	0.17202	N	-0.343161810233035	0.27524	1.510799	-0.252375151000784	0.29689	1.66541	0.999992166360724	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	4.72	0.59248	2.947000	0.48750	6.029000	0.52897	0.750000	0.87069	0.669000	0.28339	0.722000	0.26360	0.993000	0.69303	0.859:0.0:0.141:0.0	9.088	0.35751	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	1259.14	34	chr1	234398495	.	A	G	1259.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.11;DP=427;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=2.18;SOR=0.726	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1153	8	0	2	0
chr1	235181800	235181800	C	T	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_031371:exon19:c.G2861A:p.R954Q,ARID4B:NM_001206794:exon20:c.G3119A:p.R1040Q,ARID4B:NM_016374:exon20:c.G3119A:p.R1040Q	.	434	1080	7	1	0	9	0.00414938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0031	0.00279553	0.0031	0.0003	0.0024	0	0.0107	0.0040	0.0011	0.0005	0.0031759	491	154602	rs114272232	0.0040	0.0040	0.0042	0.0038	0.0054	0.0039	0.0039	0.0043	0.0043	0.0008	0.0020	0.0024	7.557e-05	0.0087	0.0054	0.0044	0.0040	0.0007	0.0032	0.0032	0.0030	0.0034	0.0041	0.0029	0.0029	0.0037	0.0035	0.0008	0	0.0020	0.0029	0	0.0112	0.0068	0.0041	0.0038	0.0008	0.605	0.05618	T	0.432	0.13634	T	0.0	0.11197	B	0.0	0.11217	B	0.508356	0.11871	N	0.787746	0.993865	0.23633	N	0.205	0.09354	N	1.97	0.22270	T	0.23	0.04613	N	0.114	0.12341	-0.9550	0.40096	T	0.013	0.04985	T	10	0.00255844	0.00039	T	.	.	.	0.024	0.04979	.	.	0.226560886239	0.22246	0.08373127721139197	0.08307	0.272249793805	0.29735	0.233019977808	0.02199	T	0.175217	0.52472	T	-0.618723	0.00112	T	-0.652134	0.08805	T	0.0136463470301373	0.00253	T	0.855114	0.54241	D	0.019188302	0.00445	0.024942515	0.00524	0.019188302	0.00445	0.024942515	0.00524	-1.876	0.02879	T	.	.	0.059	0.01011	B	.;.;.	.;.;.	1.939173	0.24630	16.47	0.89787046297930961	0.19100	0.48940	0.28320	N	AEFBI	0.058728	0.11038	N	-0.691329180457241	0.16267	0.8272806	-0.507078506154954	0.21960	1.190507	0.0399759274662575	0.14418	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	0.591	0.16648	0.615000	0.24023	0.425000	0.18262	0.549000	0.26987	1.000000	0.71638	0.989000	0.31174	0.997000	0.79791	0.0:0.4233:0.0:0.5767	7.638	0.27445	963	0.08280	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2336.43	36	chr1	235181800	.	C	T	2336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.562;DP=487;ExcessHet=0;FS=7.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.545;SOR=0.332	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	9	0	1	0
chr1	235182521	235182521	C	G	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_031371:exon19:c.G2140C:p.V714L,ARID4B:NM_001206794:exon20:c.G2398C:p.V800L,ARID4B:NM_016374:exon20:c.G2398C:p.V800L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00561153731555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.318	0.19246	T	0.001	0.12996	B	0.002	0.12992	B	0.117677	0.19144	N	0.548555	0.998728	0.21957	N	0.345	0.11182	N	1.93	0.22881	T	-0.81	0.22294	N	0.176	0.18920	-0.9918	0.32141	T	0.026	0.11220	T	10	0.048383087	0.04281	T	0.005612	0.14500	T	0.025	0.05312	0.088	0.00943	0.296721761885	0.29290	0.12161690783374385	0.12088	0.23353593615	0.25884	0.379286706448	0.22156	T	0.267712	0.63976	T	-0.225816	0.17205	T	-0.562146	0.16175	T	0.0392487421631813	0.03555	T	0.855414	0.58729	D	0.048201256	0.08363	0.053770233	0.09122	0.048201256	0.08363	0.053770233	0.09121	-3.552	0.17168	T	.	.	0.108	0.23986	B	.;.;.	.;.;.	1.053720	0.14351	10.93	0.96261028687449401	0.29215	0.94135	0.60218	D	AEFGBI	0.211711	0.33747	N	-0.583538361842969	0.19444	1.017741	-0.411272505613005	0.24666	1.352024	0.252108979411645	0.18691	0.732398	0.92422	0	0.724815	0.89359	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.96	2.01	0.25568	0.824000	0.27034	-0.025000	0.12872	0.599000	0.40250	0.796000	0.29669	0.744000	0.26502	0.995000	0.73285	0.1246:0.6057:0.0:0.2698	5.635	0.16809	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	48.43	36	chr1	235182521	.	C	G	48.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.117;DP=491;ExcessHet=0;FS=129.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.86;SOR=7.222	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	9	0	1	0
chr1	235229250	235229250	T	C	exonic	ARID4B	.	nonsynonymous SNV	ARID4B:NM_001206794:exon11:c.A878G:p.D293G,ARID4B:NM_016374:exon11:c.A878G:p.D293G,ARID4B:NM_031371:exon11:c.A878G:p.D293G	.	453	1061	5	3	0	11	0.00515706	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0315896028849	0.0016	0.000998403	0.0019	0.0002	0.0002	0	0	0.0017	0.0022	0.0072	0.0018046	279	154602	rs35560967	0.0019	0.0019	0.0017	0.0020	0.0075	0.0018	0.0018	0.0070	0.0068	0.0004	0.0001	0.0028	0	0.0002	0.0047	0.0017	0.0017	0.0075	0.0013	0.0013	0.0014	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0004	0	0.0007	0.0046	0	0	0	0.0019	0.0005	0.0050	0.294	0.24758	T	0.134	0.57104	T	0.993	0.65571	D	0.787	0.57594	P	0.011283	0.29587	N	0.395109	0.995808	0.42925	D	0.695	0.17993	N	-0.46	0.70014	T	-1.55	0.39503	N	0.549	0.57518	-0.6000	0.64817	T	0.240	0.60797	T	10	0.0061780512	0.00139	T	0.03159	0.53633	D	0.152	0.39956	.	.	0.628742050937	0.62570	0.22462516827859838	0.22377	1.39968210037	0.85170	0.754976212978	0.75182	T	0.385857	0.74716	T	-0.333573	0.05846	T	-0.247366	0.50076	T	0.0331767441150181	0.02500	T	0.819518	0.48627	T	0.11201135	0.26467	0.12589608	0.30327	0.11201135	0.26466	0.12589608	0.30326	-6.332	0.48975	T	.	.	0.189	0.48061	B	.;.;.;.	.;.;.;.	4.210652	0.63609	24.6	0.99023296912905323	0.50634	0.98930	0.88779	D	AEGBI	0.501702	0.53443	D	0.312017167359634	0.56765	3.841774	0.44065217930152	0.64120	4.659869	0.999986242531783	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.250000	0.72387	6.226000	0.55175	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0746:0.0:0.9254	11.072	0.47225	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.005435	0.005848	0.000000	0.000000	0.009146	0.018939	0.05	820.43	34	chr1	235229250	.	T	C	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.346;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.203;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	9	0	1	0
chr1	235979889	235979889	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon18:c.G3442A:p.E1148K	.	415	1098	8	1	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0135830568603	0.0008	0.000998403	0.0012	9.614e-05	0.0008	0.0005	0	0.0017	0.0011	0.0012	0.0012096	187	154602	rs35565926	0.0011	0.0011	0.0010	0.0011	0.0109	0.0010	0.0010	0.0088	0.0080	0.0005	0.0013	0.0146	0.0054	3.744e-05	0.0109	0.0005	0.0020	0.0015	0.0011	0.0011	0.0010	0.0012	0.0021	0.0010	0.0009	0.0013	0.0011	0.0003	0	0.0018	0.0176	0.0021	0	0.0170	0.0007	0.0014	0.0006	0.521	0.28520	T	0.182	0.34359	T	0.436	0.39027	B	0.112	0.31615	B	0.000103	0.50451	D	0.230615	0.999756	0.48800	D	1.7	0.43825	L	1.58	0.29085	T	-1.39	0.34397	N	0.622	0.65844	-1.0906	0.05433	T	0.067	0.27572	T	10	0.010430992	0.00232	T	0.013583	0.33091	T	0.118	0.32913	.	.	0.483741690565	0.48004	0.7211199717925146	0.72054	0.252981717089	0.27868	0.415167570114	0.27171	T	0.096291	0.39795	T	-0.407339	0.02071	T	-0.382518	0.35427	T	0.0449908209093968	0.04601	T	0.928457	0.74278	D	0.04680583	0.07894	0.108472735	0.26130	0.04680583	0.07894	0.108472735	0.26130	-3.853	0.25452	T	0.3795472274827144	0.47413	0.109	0.20819	B	.;.	.;.	2.562128	0.33183	19.26	0.99746264546661478	0.83927	0.94535	0.61480	D	AEFDBI	0.792191	0.72056	D	-0.179924630265715	0.33972	1.933	-0.0911095388232909	0.35756	2.072493	0.999983601478189	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.92	4.0	0.45673	2.700000	0.46753	3.486000	0.38682	-0.217000	0.08171	0.992000	0.37556	0.998000	0.33993	0.168000	0.20914	0.0:0.7532:0.2468:0.0	16.54	0.84230	360	0.84920	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.015106	0.015152	0.013587	0.032164	0.050000	0.008621	0.006098	0.003788	0.05	2013.43	35	chr1	235979889	.	C	T	2013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-0.658;SOR=0.666	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1223	9	0	1	0
chr1	236024207	236024207	G	A	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon9:c.C1991T:p.S664F	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.276681282019	.	.	5.033e-05	9.932e-05	0	0	0	0	0.0023	0.0002	3.88e-05	6	154602	rs781704791	2.052e-05	2.052e-05	8.167e-06	3.3e-05	0.0002	1.456e-05	1.264e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0.0002	2.698e-06	8.279e-05	0.0002	1.313e-05	1.313e-05	0	2.688e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.018	0.53900	D	0.023	0.60337	D	0.023	0.61118	B	0.023	0.57337	B	0.000874	0.41335	N	0.215575	0.955399	0.37923	D	1.975	0.53506	M	-2.45	0.88847	D	-3.43	0.67941	D	0.502	0.56231	0.646	0.92492	D	0.687	0.89187	D	10	0.41427	0.56434	T	0.276681	0.90081	D	0.470	0.76421	0.457	0.52265	0.912266846232	0.91139	0.5019394987227779	0.50115	0.788420541675	0.65640	0.472366809845	0.35005	T	0.429163	0.77805	T	-0.0792145	0.39841	T	-0.0721276	0.65474	T	0.591818153858185	0.36078	D	0.758424	0.38228	T	0.21796075	0.44291	0.22134997	0.46942	0.21796075	0.44291	0.22134997	0.46941	-9.03	0.75630	D	0.1697063097645595	0.21295	0.179	0.39012	B	.;.	.;.	4.611544	0.73136	25.9	0.99816744225151433	0.89973	0.98783	0.86796	D	AEFDBI	0.869853	0.79056	D	0.278257327753029	0.55049	3.669197	0.367352025696093	0.59559	4.13487	0.999944501238077	0.47345	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.73	4.82	0.61641	4.976000	0.63501	6.632000	0.56155	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0704:0.0:0.9296:0.0	14.476	0.67125	469	0.78175	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001512	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	432.43	36	chr1	236024207	.	G	A	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.814;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.799;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	9	0	1	0
chr1	236555597	236555597	A	G	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon40:c.T5708C:p.M1903T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.703	0.228825981121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.48	0.72069	M	-0.16	0.65378	T	-3.34	0.66325	D	0.927	0.93135	-0.1379	0.79216	T	0.409	0.75789	T	10	0.8919902	0.88543	D	0.228826	0.88156	D	0.703	0.89330	0.678	0.81594	0.784655137228	0.78266	0.7357449618739271	0.73519	0.386592268345	0.39947	0.734109699726	0.72107	T	0.033978	0.23137	T	0.351101	0.86582	D	0.266556	0.86406	D	0.986439550973144	0.77153	D	0.89651	0.65783	D	0.81606895	0.84956	0.81767267	0.89389	0.81606895	0.84957	0.81767267	0.89390	-5.2	0.38942	T	.	.	0.430	0.62562	A	.;.	.;.	4.621802	0.73395	26.0	0.99088810581742648	0.52149	0.99524	0.97054	D	AEFBI	0.882838	0.81128	D	0.681621218122094	0.78430	6.869732	0.639569498264871	0.77837	6.756759	0.999997602753695	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	9.054000	0.93315	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	14.755	0.69180	934	0.15400	BP28, C-terminal domain|BP28, C-terminal domain;BP28, C-terminal domain|BP28, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	877.43	60	chr1	236555597	.	A	G	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.87;DP=573;ExcessHet=0;FS=2.671;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.83;ReadPosRankSum=0.403;SOR=1.038	GT:AD:DP:GQ:PL	0/1:74,38:112:99:889,0,1741	9	0	1	0
chr1	236576911	236576911	T	C	exonic	HEATR1	.	nonsynonymous SNV	HEATR1:NM_018072:exon21:c.A2794G:p.K932E	.	429	1082	11	0	0	11	0.00505747	.	.	.	2220107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.191	0.0224133999777	.	.	4.972e-05	0	0	0	0	3.011e-05	0	0.0002	3.88e-05	6	154602	rs759778339	4.932e-05	4.925e-05	3.134e-05	6.747e-05	0.0016	3.997e-05	3.674e-05	0.0008	0.0006	0	0	0.0002	0	0	0.0016	2.16e-05	9.944e-05	0.0003	2.629e-05	2.627e-05	2.569e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0.0003	0	0	0	2.939e-05	0	0.0002	0.686	0.04880	T	0.941	0.02693	T	0.323	0.33082	B	0.055	0.25995	B	0.005091	0.33107	N	0.315838	0.930272	0.27075	N	2.3	0.65703	M	-0.15	0.65192	T	-0.37	0.14588	N	0.397	0.48227	-0.9447	0.41863	T	0.162	0.49715	T	10	0.07619879	0.11872	T	0.022413	0.45296	T	0.191	0.46948	0.343	0.33626	0.821218725756	0.81953	0.1511427080458343	0.15036	0.153620100774	0.17329	0.330201566219	0.14965	T	0.004278	0.03690	T	-0.247292	0.14434	T	-0.241275	0.50673	T	0.135865324479741	0.15913	T	0.871313	0.62289	D	0.06734628	0.14576	0.075289495	0.16560	0.06734628	0.14575	0.075289495	0.16560	-3.747	0.20015	T	.	.	0.188	0.44669	B	.;.	.;.	3.366475	0.46504	22.3	0.99696241599004087	0.80316	0.85826	0.45003	D	AEFBCI	0.259425	0.37777	N	-0.319825785111508	0.28395	1.565855	-0.204534371892716	0.31372	1.774885	0.0411070197632296	0.14470	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.36	4.24	0.49486	4.049000	0.57110	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.073:0.0:0.927	11.073	0.47235	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	630.43	53	chr1	236576911	.	T	C	630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.753;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.431;SOR=0.76	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1194	9	0	1	0
chr1	236762536	236762536	G	A	exonic	ACTN2	.	nonsynonymous SNV	ACTN2:NM_001103:exon21:c.G2602A:p.A868T,ACTN2:NM_001278343:exon21:c.G2602A:p.A868T,ACTN2:NM_001278344:exon23:c.G1978A:p.A660T	Cardiomyopathy, dilated, 1AA, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 23, with or without LVNC, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	228365	not_provided|Dilated_cardiomyopathy_1AA|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_specified|Myopathy,_congenital,_with_structured_cores_and_z-line_abnormalities|Myopathy,_distal,_6,_adult-onset,_autosomal_dominant	MedGen:C3661900|MONDO:MONDO:0012808,MedGen:C2677338,OMIM:612158,Orphanet:154|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0032852,MedGen:C5231445,OMIM:618654|MONDO:MONDO:0032853,MedGen:C5203349,OMIM:618655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.0065960459423	7.7e-05	0.000199681	4.954e-05	0.0003	0	0	0	3.005e-05	0	6.06e-05	4.53e-05	7	154602	rs143150260	7.456e-05	7.456e-05	6.126e-05	8.801e-05	0.0003	6.315e-05	5.873e-05	7.047e-05	6.54e-05	5.974e-05	0	0	0	0	0.0003	8.453e-05	0.0002	1.159e-05	4.596e-05	4.593e-05	3.856e-05	5.37e-05	7.22e-05	2.108e-05	1.526e-05	1.972e-05	1.124e-05	7.22e-05	0	0	0	0	0	0	5.88e-05	0	0	0.036	0.43393	D	0.167	0.30729	T	0.004	0.12183	B	0.003	0.08700	B	0.281713	0.03838	N	1.510010	0.999954	0.19072	N	1.1	0.28011	L	0.95	0.43279	T	-0.36	0.13035	N	0.047	0.01911	-0.9808	0.34817	T	0.077	0.30767	T	10	0.053504944	0.05552	T	0.006596	0.17386	T	0.028	0.06331	.	.	0.413952526745	0.41011	0.49156699031260054	0.49077	0.210097312842	0.23489	0.464972168207	0.33991	T	0.257365	0.62839	T	-0.445471	0.01201	T	-0.640996	0.09596	T	0.0223241738193941	0.00945	T	0.823018	0.48339	T	0.074888766	0.16836	0.07378174	0.16069	0.074888766	0.16835	0.07378174	0.16069	-6.335	0.49149	T	0.1974373651758204	0.26112	0.069	0.04277	B	.;.;.	.;.;.	2.946698	0.39199	20.9	0.98761478178847895	0.45816	0.22155	0.21650	N	AEFDBHCI	0.136295	0.25691	N	-0.927136963311464	0.10210	0.4868639	-0.853964215652759	0.13193	0.6830432	0.917977535305647	0.26558	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	0.621	0.16817	0.002000	0.12962	0.656000	0.20461	-0.274000	0.06627	0.000000	0.06391	0.095000	0.22593	0.746000	0.35646	0.1534:0.4454:0.4013:0.0	9.420	0.37711	498	0.76166	EF-hand, Ca insensitive;.;EF-hand, Ca insensitive	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	999.43	38	chr1	236762536	.	G	A	999.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.105;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1189	9	0	1	0
chr1	237590842	237590842	A	G	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon31:c.A4010G:p.Y1337C	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	196586	Cardiovascular_phenotype|not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia_1|Hypertrophic_cardiomyopathy|Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.472	0.215631292495	.	.	1.657e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs765369749	1.984e-05	1.984e-05	2.995e-05	9.627e-06	0.0002	1.392e-05	1.204e-05	1.663e-05	1.425e-05	2.987e-05	0	0	0	0	0.0002	2.428e-05	0	0	6.578e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.177	0.22224	T	.	.	.	0.804	0.45171	P	0.258	0.39350	B	0.054039	0.22758	N	0.356379	0.99756	0.22606	N	0	0.06538	N	-4.03	0.96434	D	-1.95	0.45222	N	0.653	0.66358	-0.0106	0.82037	T	0.662	0.88250	D	10	0.23324093	0.40337	T	0.215631	0.87518	D	0.472	0.76554	0.428	0.47515	0.493523153317	0.48987	0.34381217708129147	0.34295	0.635918824725	0.57386	0.646557450294	0.59497	T	0.41793	0.77042	T	0.0134334	0.53493	T	-0.0880293	0.64310	T	0.204121142625809	0.20641	T	0.944206	0.78893	D	0.09423361	0.22150	0.09352227	0.22095	0.09423361	0.22149	0.09352227	0.22094	-4.669	0.33027	T	0.10776565464063148	0.08810	0.111	0.21466	B	.;.	.;.	2.518381	0.32539	19.07	0.99618699852914072	0.75293	0.95406	0.64595	D	AEFI	0.531026	0.55148	D	-0.106458466310796	0.37110	2.154448	-0.000391912767227713	0.39700	2.358	3.51091686433753E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	3.33	0.37245	2.208000	0.42436	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.4882:0.0:0.0:0.5118	10.685	0.45035	934	0.15400	B30.2/SPRY domain;B30.2/SPRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2061.43	34	chr1	237590842	.	A	G	2061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=489;ExcessHet=0;FS=2.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.13;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	9	0	1	0
chr1	240207567	240207599	GGCATACCTCCTCCGCCGCCTCTACCCGGAGCA	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2755_2787del:p.P921_I931del,FMN2:NM_001305424:exon6:c.2767_2799del:p.P925_I935del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0001	0.0022	0.0009	3.84e-05	1	26028	rs750845737	0.0001	0.0001	8.328e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	2.255e-05	0	0	0	0.0012	4.955e-05	0.0003	0.0013	6.207e-05	8.114e-05	6.735e-05	5.653e-05	0.0011	3.215e-05	2.409e-05	0.0004	0.0003	2.756e-05	0	0	0	0	0	0	4.458e-05	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	777.39	78	chr1	240207566	.	GGGCATACCTCCTCCGCCGCCTCTACCCGGAGCA	G	777.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.032;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-1.489;SOR=0.77	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1102	9	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2613.07	86	chr1	240207634	.	G	*	2613.07	.	AC=5;AF=0.25;AN=20;DP=619;ExcessHet=0.0952;FS=0.455;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=60;QD=7.32;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1102:.	6	1	3	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2667.45	80	chr1	240207641	.	T	*	2667.45	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.8;DP=628;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=59.99;MQRankSum=-0.926;QD=7.64;ReadPosRankSum=1.37;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1102:.	6	1	3	0
chr1	240207647	240207647	-	CCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2835_2836insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P946_P947insLLPGAGIPLPP,FMN2:NM_001305424:exon6:c.2847_2848insCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT:p.P950_P951insLLPGAGIPLPP	Mental retardation, autosomal recessive 47, Autosomal recessive	34	191	0	1	0	2	0.00520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0017	0.0041	0.0016	0.0018	0.0052	0.0016	0.0016	0.0046	0.0043	0.0015	0.0015	0.0070	0.0052	0.0020	0.0034	0.0014	0.0030	0.0011	0.0026	0.0080	0.0026	0.0026	0.0038	0.0022	0.0021	0.0028	0.0026	0.0015	0.0027	0.0038	0.0037	0.0015	0.0003	0	0.0034	0.0015	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	193.54	80	chr1	240207647	.	G	GCCCCTTCTTCCCGGGGCAGGCATACCCCTTCCT	193.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.345;DP=586;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.51;MQRankSum=0;QD=2.13;ReadPosRankSum=0.538;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1102:.	9	0	1	0
chr1	240207647	240207647	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	193.54	80	chr1	240207647	.	G	*	193.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.345;DP=586;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.51;MQRankSum=0;QD=2.13;ReadPosRankSum=0.538;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1102:.	9	0	1	0
chr1	240207656	240207656	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	315.58	80	chr1	240207656	.	A	*	315.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=590;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.27;MQRankSum=0;QD=3.47;ReadPosRankSum=2.28;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1102:.	9	0	1	0
chr1	240207665	240207665	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	193.58	80	chr1	240207665	.	G	*	193.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.097;DP=635;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.1;MQRankSum=0;QD=2.13;ReadPosRankSum=0.931;SOR=0.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1102:.	9	0	1	0
chr1	240207667	240207667	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	307.58	80	chr1	240207667	.	C	*	307.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=637;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=0;QD=3.42;ReadPosRankSum=2.27;SOR=0.662	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1102	9	0	1	0
chr1	240207674	240207674	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	191.58	80	chr1	240207674	.	C	*	191.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.483;DP=635;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=0;QD=2.08;ReadPosRankSum=0.254;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1102:.	9	0	1	0
chr1	240207780	240207812	CCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	-	exonic	FMN2	.	nonframeshift deletion	FMN2:NM_020066:exon5:c.2968_3000del:p.A1094_G1104del,FMN2:NM_001305424:exon6:c.2980_3012del:p.A1098_G1108del	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0044	0.0062	0.0114	0.0028	0.0066	0.0028	0.0048	3.84e-05	1	26028	rs749497209	0.0056	0.0048	0.0048	0.0065	0.0231	0.0055	0.0054	0.0219	0.0215	0.0021	0.0034	0.0092	0.0076	0.0116	0.0102	0.0042	0.0073	0.0231	0.0004	0.0050	0.0004	0.0005	0.0014	0.0003	0.0002	0.0003	0.0002	0.0007	0	0.0005	0	0	0	0	0.0004	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	927.39	36	chr1	240207779	.	TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	T	927.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.11;DP=468;ExcessHet=0;FS=1.272;InbreedingCoeff=0.6073;MLEAC=3;MLEAF=0.15;MQ=56.59;MQRankSum=0.573;QD=22.62;ReadPosRankSum=0.388;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:45:.:.:0,45,675:.	8	1	1	0
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2674.01	36	chr1	240207785	.	A	*	2674.01	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.546;DP=409;ExcessHet=0;FS=2.143;InbreedingCoeff=0.7414;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=3.04;QD=16.3;ReadPosRankSum=1.06;SOR=1.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:42:.:.:0,42,391:.	5	1	1	3
chr1	240207788	240207788	-	CCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	exonic	FMN2	.	nonframeshift insertion	FMN2:NM_020066:exon5:c.2976_2977insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1104_V1105insAGIPPPPPLPG,FMN2:NM_001305424:exon6:c.2988_2989insCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA:p.G1108_V1109insAGIPPPPPLPG	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4008224	Intellectual_disability,_autosomal_recessive_47	MONDO:MONDO:0014524,MedGen:C4015444,OMIM:616193,Orphanet:88616	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	3.297e-05	0	0	0	0	5.93e-05	0	0	3.84e-05	1	26028	rs746761716	0.0040	0.0069	0.0039	0.0042	0.0132	0.0039	0.0039	0.0119	0.0113	0.0055	0.0029	0.0121	0.0132	0.0047	0.0110	0.0032	0.0061	0.0071	2.121e-05	0.0005	0	4.471e-05	4.004e-05	0	0	.	.	0	0	0	0	0	0	0	4.004e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2184.54	36	chr1	240207788	.	T	TCCCGGAGCAGGAATACCTCCTCCACCCCCTCTA	2184.54	.	AC=2;AF=0.111;AN=18;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=0.8566;MLEAC=2;MLEAF=0.111;MQ=58.2;QD=16.06;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:39:.:.:0,39,367:.	8	1	0	1
chr1	240207788	240207788	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2184.54	36	chr1	240207788	.	T	*	2184.54	.	AC=2;AF=0.111;AN=18;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=0.8566;MLEAC=2;MLEAF=0.111;MQ=58.2;QD=16.06;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:39:.:.:0,39,367:.	8	1	0	1
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1107.53	30	chr1	240207806	.	C	*	1107.53	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.671;DP=273;ExcessHet=0.2119;FS=0;InbreedingCoeff=0.2455;MLEAC=4;MLEAF=0.4;MQ=52.27;MQRankSum=2.74;QD=12.59;ReadPosRankSum=-0.67;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,323:.	3	1	1	5
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1207.52	30	chr1	240207812	.	G	*	1207.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.141;DP=252;ExcessHet=0.0509;FS=3.463;InbreedingCoeff=0.3649;MLEAC=4;MLEAF=0.286;MQ=53.32;MQRankSum=2.37;QD=12.45;ReadPosRankSum=-0.439;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,323:.	5	1	1	3
chr1	240208225	240208225	C	T	exonic	FMN2	.	nonsynonymous SNV	FMN2:NM_020066:exon5:c.C3413T:p.A1138V,FMN2:NM_001305424:exon6:c.C3425T:p.A1142V	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	215203	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.0593264705397	.	.	4.303e-05	0	0	0	0	3.904e-05	0	0.0002	3.84e-05	1	26028	rs199570117	0.0002	0.0003	8.288e-05	0.0003	0.0019	0.0002	0.0002	0.0017	0.0015	0	6.742e-05	8.973e-05	8.975e-05	0	0.0006	3.489e-05	0.0001	0.0019	0.0002	0.0001	0.0003	0	0.0003	0	0	.	.	0	0	0	0	0	0	0	0.0003	0	0	0.125	0.27310	T	0.364	0.16766	T	0.001	0.07471	B	0.001	0.04355	B	0.949794	0.08295	N	0.965537	1	0.08975	N	-0.265	0.03777	N	0.3	0.58755	T	0.98	0.01447	N	0.072	0.04547	-1.0481	0.14932	T	0.074	0.29739	T	9	0.039099485	0.02376	T	0.059326	0.67625	D	0.026	0.05648	.	.	0.45318261447	0.44940	0.031559809544390006	0.03104	0.0908426113057	0.10259	0.480732858181	0.36158	T	0.039202	0.25109	T	-0.489698	0.00652	T	-0.676765	0.07183	T	0.027322051155838	0.01590	T	0.563244	0.19836	T	0.01999625	0.00544	0.03595056	0.02945	0.01999625	0.00544	0.03595056	0.02944	-5.064	0.37526	T	.	.	0.078	0.06896	B	.	.	-1.087624	0.00655	0.018	0.4854602836483915	0.04060	0.00082	0.00556	N	AEFI	0.024825	0.01600	N	-1.81045544107508	0.00520	0.0223836	-1.88724632416224	0.00519	0.02299746	0.0279158718562539	0.13801	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	-4.88	0.02884	-2.667000	0.00919	-20.000000	0.00162	-4.313000	0.00033	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1539:0.3443:0.0:0.5019	4.261	0.10189	976	0.04745	Formin Homology 1|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010106	0.000000	0.009511	0.020161	0.000000	0.025862	0.003145	0.015152	0.0625	269.74	13	chr1	240208225	.	C	T	269.74	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.744;DP=210;ExcessHet=0;FS=1.778;InbreedingCoeff=-0.1116;MLEAC=1;MLEAF=0.063;MQ=46.51;MQRankSum=-1.21;QD=14.99;ReadPosRankSum=-0.578;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:60:.:.:0,60,553:.	7	0	1	2
chr1	241879152	241879152	C	T	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon11:c.C1918T:p.P640S,EXO1:NM_006027:exon11:c.C1918T:p.P640S,EXO1:NM_001319224:exon12:c.C1915T:p.P639S,EXO1:NM_130398:exon13:c.C1918T:p.P640S	.	424	1059	37	2	0	41	0.0189903	.	.	.	3199359	EXO1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.008	.	0.0069	0.019369	0.0130	0.0072	0.0026	0.0035	0.0039	0.0061	0.0122	0.0607	0.0118692	1835	154602	rs61736331	0.0091	0.0091	0.0077	0.0106	0.0565	0.0090	0.0089	0.0552	0.0547	0.0072	0.0030	0.0006	0.0190	0.0036	0.0151	0.0058	0.0096	0.0565	0.0077	0.0077	0.0073	0.0080	0.0559	0.0073	0.0071	0.0504	0.0483	0.0073	0	0.0033	0.0009	0.0083	0.0028	0.0068	0.0066	0.0071	0.0559	0.676	0.04482	T	0.842	0.03589	T	0.003	0.13644	B	0.002	0.10090	B	0.758298	0.09644	N	0.899174	1	0.08975	N	1.175	0.29870	L	1.51	0.30937	T	-0.55	0.16799	N	0.024	0.00571	-0.9914	0.32244	T	0.023	0.09604	T	10	0.0018211603	0.00024	T	.	.	.	0.208	0.49714	.	.	.	.	0.156109575900888	0.15531	0.0490915211193	0.05371	0.233549177647	0.02241	T	0.097551	0.40049	T	-0.447715	0.01165	T	-0.373393	0.36493	T	0.00130520188550032	0.00013	T	0.60024	0.22396	T	0.016101342	0.00176	0.024544803	0.00477	0.021404697	0.00742	0.026807906	0.00792	-2.855	0.08701	T	.	.	0.071	0.11076	B	.;.;.	.;.;.	0.130489	0.05263	1.762	0.47857533652013584	0.03946	0.02927	0.07740	N	AEFBI	0.034876	0.04397	N	-1.24310704258637	0.04391	0.1980764	-1.17819292073773	0.06275	0.3015582	0.738177102866387	0.23167	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.72	1.31	0.20837	-0.510000	0.06411	-1.934000	0.04472	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	0.0:0.5173:0.1405:0.3422	5.583	0.16540	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1666.43	40	chr1	241879152	.	C	T	1666.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=635;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.415;SOR=0.78	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	9	0	1	0
chr1	241879258	241879258	A	G	exonic	EXO1	.	nonsynonymous SNV	EXO1:NM_003686:exon11:c.A2024G:p.Q675R,EXO1:NM_006027:exon11:c.A2024G:p.Q675R,EXO1:NM_001319224:exon12:c.A2021G:p.Q674R,EXO1:NM_130398:exon13:c.A2024G:p.Q675R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00470202665616	.	.	2.518e-05	0	0	0	0	4.541e-05	0	0	3.23e-05	5	154602	rs776504870	8.98e-06	8.893e-06	6.866e-06	1.112e-05	1.203e-05	5.01e-06	3.86e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.084e-05	0	1.203e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12469	T	0.594	0.10678	T	0.001	0.09854	B	0.001	0.08700	B	0.020912	0.26940	N	0.412793	0.999626	0.20843	N	1.775	0.45938	L	1.3	0.35590	T	-0.81	0.22294	N	0.081	0.06059	-1.0313	0.20034	T	0.063	0.26101	T	10	0.058306992	0.06833	T	0.004702	0.11691	T	0.020	0.03691	0.157	0.06070	0.317667799068	0.31381	0.3393158103897112	0.33844	0.0516201544149	0.05681	0.215484410524	0.01065	T	0.136837	0.46943	T	-0.353369	0.04519	T	-0.606665	0.12257	T	0.0324437171220779	0.02379	T	0.488051	0.14953	T	0.027935578	0.02056	0.03533642	0.02767	0.027935578	0.02056	0.03533642	0.02766	-3.835	0.22152	T	.	.	0.069	0.06571	B	.;.;.	.;.;.	0.811509	0.11827	8.394	0.9655727623847864	0.30247	0.45472	0.27546	N	AEFBI	0.088092	0.17860	N	-0.523068846400105	0.21335	1.131522	-0.419374740044056	0.24428	1.337647	0.927473652181621	0.26890	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.42	3.12	0.34986	0.588000	0.23626	-0.788000	0.07426	0.756000	0.94297	0.627000	0.27974	0.000000	0.08366	0.776000	0.36750	0.8158:0.0:0.1842:0.0	7.372	0.25978	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1434.43	39	chr1	241879258	.	A	G	1434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=438;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-1.239;SOR=0.544	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	9	0	1	0
chr1	243330647	243330647	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G882A:p.M294I,SDCCAG8:NM_006642:exon10:c.G1176A:p.M392I,SDCCAG8:NM_001350247:exon11:c.G273A:p.M91I,SDCCAG8:NM_001350248:exon11:c.G1272A:p.M424I,SDCCAG8:NM_001350246:exon12:c.G273A:p.M91I,SDCCAG8:NM_001350251:exon13:c.G273A:p.M91I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	2052829	Senior-Loken_syndrome_7|Bardet-Biedl_syndrome_16	MONDO:MONDO:0013326,MedGen:C3150877,OMIM:613615,Orphanet:3156|MONDO:MONDO:0014444,MedGen:C3889474,OMIM:615993,Orphanet:110	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0112712139326	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1367586020	9.577e-06	9.577e-06	1.089e-05	8.251e-06	1.259e-05	5.56e-06	4.35e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.23541	T	0.185	0.30339	T	0.181	0.29111	B	0.072	0.28043	B	0.044752	0.23606	N	0.496290	0.999278	0.21423	N	1.6	0.40776	L	0.9	0.45248	T	-1.27	0.31981	N	0.126	0.11912	-0.9975	0.30618	T	0.099	0.37034	T	10	0.042555273	0.03016	T	0.011271	0.28723	T	0.027	0.05988	0.202	0.11659	0.272205846399	0.26826	0.04519661773478437	0.04463	0.0436377138702	0.04699	0.349340200424	0.17825	T	0.01808	0.16701	T	-0.196896	0.21252	T	-0.520604	0.20232	T	0.0960584911289023	0.11918	T	0.838616	0.51177	T	0.089960046	0.21035	0.13147321	0.31570	0.089960046	0.21035	0.13147321	0.31569	-3.009	0.10278	T	0.07840093510325112	0.03763	0.202	0.44174	B	.;.	.;.	1.258929	0.16566	12.62	0.970529907325835	0.32159	0.14306	0.18333	N	AEFBI	0.042510	0.06605	N	-0.355318202192905	0.27077	1.482753	-0.307275694659543	0.27864	1.549174	0.00467988467669328	0.10667	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	2.54	0.29674	-0.075000	0.11392	0.747000	0.21206	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.886000	0.42526	0.0:0.2402:0.6123:0.1475	9.077	0.35688	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	119.43	46	chr1	243330647	.	G	A	119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.251;DP=742;ExcessHet=0;FS=67.175;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.01;SOR=6.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1193:.	9	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	257.43	46	chr1	243330649	.	T	C	257.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.762;DP=835;ExcessHet=0.7463;FS=120.026;InbreedingCoeff=-0.1754;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.49;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1193:.	7	0	3	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	575.57	46	chr1	243330650	.	G	A	575.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.207;DP=1009;ExcessHet=1.5895;FS=128.873;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.64;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1193:.	6	0	4	0
chr1	245687211	245687211	C	G	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C4228G:p.P1410A	.	432	1082	8	0	0	8	0.00368324	.	.	.	707266	not_provided|KIF26B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0209027063003	0.0041	0.00179712	0.0043	0.0018	0.0009	0	0.0015	0.0058	0.0026	0.0055	0.0040362	624	154602	rs113972282	0.0072	0.0072	0.0071	0.0073	0.0084	0.0071	0.0070	0.0083	0.0082	0.0025	0.0020	0.0010	0	0.0016	0.0017	0.0084	0.0067	0.0054	0.0048	0.0048	0.0051	0.0045	0.0076	0.0045	0.0044	0.0071	0.0069	0.0026	0	0.0025	0.0017	0	0.0012	0.0034	0.0076	0.0033	0.0064	0.482	0.11994	T	0.433	0.13595	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	-0.96	0.75553	T	0.05	0.06369	N	0.052	0.02366	-0.9917	0.32167	T	0.060	0.25237	T	9	0.00395146	0.00076	T	0.020903	0.43581	T	0.109	0.30843	.	.	0.245697971988	0.24196	0.13046683558951994	0.12971	0.293368524652	0.31762	0.274080336094	0.06679	T	0.064153	0.32362	T	-0.597584	0.00151	T	-0.627439	0.10609	T	0.00190734541257838	0.00019	T	0.30037	0.05618	T	0.013252183	0.00054	0.02680588	0.00790	0.015813373	0.00159	0.03025784	0.01459	-3.058	0.10820	T	.	.	0.048	0.00090	B	.;.	.;.	-2.015605	0.00097	0.002	0.33787612368674064	0.02032	0.06927	0.12953	N	AEFDBCI	0.038892	0.05569	N	-2.39434004565614	0.00028	0.001203017	-2.39984126662237	0.00039	0.001726364	0.999980505081824	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	5.51	-11.0	0.00133	-0.271000	0.08603	-2.322000	0.03901	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1308:0.1173:0.5843:0.1677	8.305	0.31199	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1194.43	76	chr1	245687211	.	C	G	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=564;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.968;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,114,1710:.	9	0	1	0
chr1	246891805	246891805	G	A	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon15:c.C1919T:p.S640L,AHCTF1:NM_001323343:exon15:c.C1919T:p.S640L,AHCTF1:NM_015446:exon15:c.C1946T:p.S649L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00752259351923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.84e-07	0	1.377e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.026	0.55759	D	0.006	0.16867	B	0.005	0.12133	B	0.212295	0.16336	N	0.627971	1	0.08975	N	0.55	0.14455	N	1.49	0.31470	T	-1.16	0.29727	N	0.218	0.24758	-1.0355	0.18700	T	0.041	0.17573	T	10	0.06172079	0.07783	T	0.007523	0.19952	T	0.016	0.02506	0.394	0.41935	0.0675242888579	0.06100	0.14857443766049624	0.14779	0.223967814049	0.24908	0.270486295223	0.06205	T	0.090059	0.38505	T	-0.195337	0.21479	T	-0.518364	0.20460	T	0.104914225637913	0.12888	T	0.889011	0.61998	D	0.05401627	0.10307	0.09858602	0.23509	0.05401627	0.10306	0.09858602	0.23508	-4.17	0.26534	T	.	.	0.094	0.14660	B	.;.;.	.;.;.	2.161709	0.27541	17.50	0.9292137006305321	0.22483	0.09255	0.15048	N	AEFDBI	0.043167	0.06790	N	-1.09104393752158	0.06807	0.3144274	-1.07838411941292	0.08127	0.3982184	0.0026255048341082	0.09584	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.1	2.08	0.26079	0.874000	0.27715	2.370000	0.32424	-0.185000	0.09859	0.002000	0.15269	0.031000	0.21272	0.211000	0.22211	0.3144:0.1428:0.5428:0.0	5.040	0.13794	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	481.43	34	chr1	246891805	.	G	A	481.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.411;DP=307;ExcessHet=0;FS=3.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=1.87;QD=14.16;ReadPosRankSum=0.639;SOR=1.159	GT:AD:DP:GQ:PL	0/0:16,0:16:45:0,45,675	9	0	1	0
chr1	247039497	247039497	T	G	exonic	ZNF670	.	nonsynonymous SNV	ZNF670:NM_001204220:exon2:c.A44C:p.Q15P,ZNF670:NM_033213:exon2:c.A44C:p.Q15P	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00194981131773	.	.	5.789e-05	0	0	0	0	0	0	0.0004	6.5e-06	1	154602	rs760277600	2.34e-05	2.326e-05	9.589e-06	3.736e-05	0.0003	1.685e-05	1.487e-05	0.0002	0.0002	0	0	0	0	0	0.0002	3.609e-06	0	0.0003	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.251	0.17069	T	0.425	0.13912	T	0.104	0.25941	B	0.143	0.33763	B	.	.	.	.	0.999632	0.20820	N	0.715	0.18665	N	4.38	0.02255	T	-0.97	0.25770	N	0.224	0.25130	-0.9213	0.45376	T	0.008	0.02638	T	8	0.053522468	0.05557	T	0.00195	0.03482	T	0.057	0.16321	0.516	0.61611	0.165133752707	0.16062	0.3452691249854406	0.34440	0.239475993603	0.26500	0.350712954998	0.18027	T	0.029717	0.21228	T	-0.395723	0.02470	T	-0.493826	0.22990	T	0.0581647502976819	0.06876	T	0.0249975	0.00151	T	0.35770413	0.57661	0.50082445	0.71142	0.35770413	0.57661	0.50082445	0.71142	-6.129	0.47346	T	.	.	0.072	0.04277	B	.	.	1.224810	0.16187	12.38	0.95720239885608216	0.27643	0.00613	0.02718	N	AEFBI	0.066410	0.13004	N	-0.916389256105277	0.10459	0.4998826	-1.021613877729	0.09310	0.4624785	3.38602789150726E-4	0.06583	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	0.46	-0.92	0.09942	-0.057000	0.11726	.	.	0.474000	0.21982	0.124000	0.23245	0.000000	0.08366	0.022000	0.11911	.	.	.	567	0.70732	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1550.43	41	chr1	247039497	.	T	G	1550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.168;DP=439;ExcessHet=0;FS=8.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.334;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1329:.	9	0	1	0
chr1	247039499	247039504	AGTAAA	-	exonic	ZNF670	.	nonframeshift deletion	ZNF670:NM_001204220:exon2:c.37_42del:p.F13_T14del,ZNF670:NM_033213:exon2:c.37_42del:p.F13_T14del	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs758273716	2.341e-05	2.326e-05	9.593e-06	3.737e-05	0.0003	1.685e-05	1.487e-05	0.0002	0.0002	0	0	0	0	0	0.0002	3.61e-06	0	0.0003	6.57e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1550.39	41	chr1	247039498	.	GAGTAAA	G	1550.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.294;DP=439;ExcessHet=0;FS=8.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.223;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,105,1329:.	9	0	1	0
chr1	247100499	247100499	C	T	exonic	ZNF669	.	nonsynonymous SNV	ZNF669:NM_001142572:exon4:c.G1012A:p.G338S,ZNF669:NM_024804:exon4:c.G1270A:p.G424S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0033317705588	7.7e-05	.	0.0001	9.61e-05	0	0	0.0006	0.0001	0.0022	0.0002	0.0001164	18	154602	rs202077184	0.0001	0.0001	9.665e-05	0.0001	0.0056	9.115e-05	8.645e-05	0.0040	0.0035	0.0001	8.944e-05	0	0	0.0004	0.0056	6.475e-05	0.0001	0.0002	8.543e-05	8.537e-05	7.709e-05	9.417e-05	0.0002	4.958e-05	3.963e-05	.	.	0	0	6.542e-05	0	0.0002	0.0007	0.0032	0	0.0014	0	0.055	0.41096	T	0.1	0.38742	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	2.015	0.55033	M	3.21	0.07125	T	-5.32	0.84525	D	0.191	0.23632	-1.0693	0.09567	T	0.023	0.09832	T	9	0.0881789	0.15158	T	0.003332	0.07421	T	0.088	0.25558	.	.	0.0551355673512	0.04727	0.029414227290868733	0.02890	0.061800003408	0.06886	0.3433598876	0.16940	T	0.030112	0.21421	T	-0.458735	0.01001	T	-0.660049	0.08264	T	0.0740004468725726	0.09202	T	0.410559	0.10607	T	0.1581549	0.35596	0.18353015	0.41348	0.1581549	0.35596	0.18353015	0.41347	-6.196	0.49275	T	.	.	0.308	0.53595	B	.;.	.;.	1.454655	0.18762	13.91	0.8239120761692863	0.14168	0.01625	0.05246	N	AEFBCI	0.096690	0.19516	N	-0.819299021073128	0.12817	0.6272616	-0.951320271971084	0.10891	0.5515437	0.935677674601491	0.27223	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.544	0.544	0.16375	2.161000	0.41985	.	.	-0.784000	0.03305	0.692000	0.28550	0.000000	0.08366	0.027000	0.12703	0.0:0.9999:0.0:1.0E-4	6.887	0.23386	656	0.62345	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.002717	0.014620	0.000000	0.000000	0.003049	0.000000	0.05	2259.43	136	chr1	247100499	.	C	T	2259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=465;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=0;QD=16.61;ReadPosRankSum=-1.815;SOR=0.801	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1332	9	0	1	0
chr1	247256149	247256149	T	C	exonic	VN1R5	.	unknown	UNKNOWN	.	530	986	5	1	0	7	0.00353714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	8.476e-05	0	0	0	0	0.0001	0	6.772e-05	6.47e-05	10	154602	rs377603855	3.698e-05	3.762e-05	3.135e-05	4.268e-05	0.0017	2.897e-05	2.595e-05	0.0009	0.0007	0	0.0001	0	5.039e-05	0	0.0017	1.62e-05	9.954e-05	0.0002	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1327.43	33	chr1	247256149	.	T	C	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.507;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.433;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	9	0	1	0
chr1	247429610	247429610	A	G	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon5:c.A2176G:p.S726G,NLRP3:NM_001243133:exon5:c.A2176G:p.S726G,NLRP3:NM_004895:exon5:c.A2182G:p.S728G,NLRP3:NM_001079821:exon6:c.A2176G:p.S726G	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	231483	not_provided|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Familial_cold_autoinflammatory_syndrome_1|Cryopyrin_associated_periodic_syndrome|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|NLRP3-related_disorder|Autoinflammatory_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.038	0.0411947171493	0.0005	0.000199681	0.0005	9.713e-05	0.0002	0	0	0.0007	0.0022	0.0005	0.0004398	68	154602	rs147946775	0.0009	0.0009	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	5.974e-05	0.0003	0	0	0.0002	0	0.0011	0.0006	0.0006	0.0005	0.0005	0.0006	0.0003	0.0008	0.0004	0.0003	0.0007	0.0006	0.0002	0	0.0003	0	0	0	0.0034	0.0008	0.0009	0	0.139	0.25873	T	0.222	0.64786	T	0.009	0.68779	B	0.004	0.62049	B	0.016499	0.27965	N	0.257437	1	0.08975	N	.	.	.	0.6	0.53731	T	-1.76	0.41618	N	0.279	0.32037	-0.9738	0.36387	T	0.176	0.52084	T	10	0.022883028	0.00583	T	0.041195	0.59795	D	0.038	0.09825	.	.	0.949384705857	0.94885	0.3841348814436495	0.38328	0.420246171216	0.42557	0.27722170949	0.07108	T	0.223883	0.58815	T	-0.45094	0.01115	T	-0.498508	0.22502	T	0.0239688560245489	0.01142	T	0.0380962	0.01457	T	0.08673594	0.20171	0.055595174	0.09783	0.08007643	0.18329	0.056004256	0.09928	-4.141	0.29475	T	.	.	0.066	0.03773	B	.;.;.;.;.	.;.;.;.;.	1.360880	0.17698	13.32	0.99278829188562556	0.57834	0.04714	0.10406	N	AEFDBI	0.094929	0.19187	N	-0.659865494959964	0.17174	0.8814577	-0.756988247753405	0.15550	0.8184156	0.572682051226211	0.21505	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.31	2.02	0.25641	0.238000	0.17782	.	.	0.743000	0.86499	0.000000	0.06391	0.014000	0.20376	0.393000	0.26625	0.7736:0.0:0.2264:0.0	5.365	0.15413	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1570.43	34	chr1	247429610	.	A	G	1570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.772;DP=461;ExcessHet=0;FS=3.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.353;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	9	0	1	0
chr1	247444671	247444671	C	T	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_183395:exon7:c.C2513T:p.T838M,NLRP3:NM_001127461:exon8:c.C2684T:p.T895M,NLRP3:NM_001127462:exon8:c.C2684T:p.T895M,NLRP3:NM_001243133:exon9:c.C2855T:p.T952M,NLRP3:NM_004895:exon9:c.C2861T:p.T954M,NLRP3:NM_001079821:exon10:c.C2855T:p.T952M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	0	1502	18	2	0	22	0.00727032	.	.	.	231492	Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Cryopyrin_associated_periodic_syndrome|not_provided|not_specified|NLRP3-related_disorder|Autoinflammatory_syndrome	MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.223	0.0559250876732	0.0007	0.00179712	0.0012	0	0.0027	0	0	0.0010	0.0011	0.0030	0.0011837	183	154602	rs139814109	0.0009	0.0009	0.0009	0.0010	0.0038	0.0009	0.0009	0.0035	0.0034	0.0001	0.0019	0.0033	7.557e-05	0.0001	0.0019	0.0007	0.0011	0.0038	0.0007	0.0007	0.0006	0.0008	0.0060	0.0006	0.0006	0.0043	0.0037	9.628e-05	0	0.0003	0.0040	0	0	0	0.0008	0.0014	0.0060	0.003	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.988	0.82059	D	0.004001	0.34245	N	0.135690	0.51581	0.34127	D	.	.	.	0.37	0.57729	T	-4.99	0.84387	D	0.499	0.56919	0.140	0.84880	D	0.415	0.76225	T	10	0.014665842	0.00308	T	0.055925	0.66415	D	0.223	0.52023	.	.	0.953123744604	0.95262	0.8017135601145453	0.80125	1.32499314031	0.83536	0.343625575304	0.16979	T	0.751276	0.93186	D	-0.21955	0.18055	T	-0.0889828	0.64239	T	0.0816429654366961	0.10196	T	0.879912	0.60954	D	0.33443165	0.55831	0.3183049	0.57799	0.3201693	0.54654	0.24169135	0.49571	-8.089	0.64720	D	.	.	0.327	0.57167	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.320669	0.66120	24.9	0.99909413192448038	0.97949	0.95640	0.65534	D	AEFBI	0.591703	0.58770	D	0.782536833620229	0.85002	8.448175	0.686207239297608	0.81330	7.501698	0.999999810104876	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.410000	0.66123	.	.	0.589000	0.31548	0.999000	0.42656	0.999000	0.35428	0.648000	0.32638	0.0:1.0:0.0:0.0	13.896	0.63276	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2185.43	33	chr1	247444671	.	C	T	2185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.772;DP=555;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.036;SOR=0.784	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr1	247532157	247532159	TGG	-	exonic	OR2C3	.	nonframeshift deletion	OR2C3:NM_198074:exon2:c.353_355del:p.T118del	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	0.0005	0	0.0006	0	0	6.006e-05	0	0.0033	0.0004657	72	154602	rs543798884	0.0003	0.0003	0.0002	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0.0002	0	0	0	0.0017	5.666e-05	0.0003	0.0030	0.0002	0.0002	0.0001	0.0002	0.0037	0.0001	9.698e-05	0.0024	0.0020	2.407e-05	0	0	0	0.0002	0	0.0034	4.41e-05	0.0005	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	2864.39	97	chr1	247532156	.	ATGG	A	2864.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.459;DP=993;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=-1.042;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	9	0	1	0
chr1	247606052	247606052	C	T	exonic	OR2G3	.	nonsynonymous SNV	OR2G3:NM_001001914:exon1:c.C467T:p.S156F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00487272123061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.94	0.52768	P	0.912	0.64797	D	0.003028	0.35542	U	0.000000	1	0.08975	N	2.98	0.85499	M	0.91	0.44856	T	-5.3	0.84387	D	0.169	0.17966	-0.7498	0.57946	T	0.272	0.64401	T	10	0.36200452	0.52807	T	0.004873	0.12224	T	0.128	0.35103	0.705	0.84145	0.590995569847	0.58776	0.28999490554351065	0.28912	0.356607788428	0.37403	0.289806485176	0.08894	T	0.006911	0.06335	T	-0.0855743	0.38805	T	-0.360698	0.37971	T	0.994767665863037	0.86260	D	0.538446	0.18153	T	0.84093624	0.86675	0.766928	0.86234	0.84093624	0.86676	0.766928	0.86235	-11.556	0.82621	D	.	.	0.376	0.58197	A	.	.	2.582214	0.33479	19.35	0.99542504421667777	0.70586	0.01531	0.05040	N	AEFI	0.050604	0.08861	N	-0.232654916858836	0.31801	1.786857	-0.506160876156086	0.21985	1.191972	1.56343494544074E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.8	2.88	0.32617	-0.134000	0.10415	.	.	0.498000	0.22619	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.0:0.8912:0.0:0.1088	9.383	0.37487	900	0.24599	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2712.43	104	chr1	247606052	.	C	T	2712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.49;DP=899;ExcessHet=0;FS=5.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.049;SOR=1.015	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	9	0	1	0
chr1	247723107	247723107	A	G	exonic	OR14A2	.	nonsynonymous SNV	OR14A2:NM_001355292:exon5:c.T937C:p.F313L	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.00359425	0.0107	0	0.004	0	0	0	0	0.0309	0.0009702	150	154602	rs200083087	0.0020	0.0018	0.0010	0.0028	0.0172	0.0019	0.0018	0.0163	0.0160	0	5.833e-05	0	9.363e-05	0	0.0007	1.91e-05	0.0007	0.0172	0.0007	0.0007	0.0003	0.0011	0.0195	0.0006	0.0005	0.0163	0.0151	2.405e-05	0	0	0	0.0006	0	0	1.47e-05	0.0009	0.0195	0.018	0.50676	D	0.353	0.17320	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.65	0.00349	T	-0.8	0.22078	N	0.056	0.02759	-1.0508	0.14175	T	0.001	0.00188	T	6	0.003480345	0.00062	T	.	.	.	0.027	0.05988	0.294	0.25720	0.0297737177859	0.01360	0.19771746205453422	0.19688	.	.	.	.	.	3.31E-4	0.00092	T	-0.707004	0.00033	T	-0.776015	0.02576	T	0.00476236788285541	0.00051	T	0.220278	0.02822	T	0.06966756	0.15284	0.059828907	0.11294	0.06966756	0.15283	0.059828907	0.11293	-2.798	0.08165	T	.	.	0.377	0.58269	A	.	.	-0.070687	0.03818	0.814	0.85818884974712306	0.16132	0.00165	0.00980	N	AEFHI	0.024181	0.01456	N	-1.01865736641552	0.08216	0.3844792	-1.24713674369368	0.05173	0.2458715	5.20173013807215E-4	0.07201	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.54	-3.98	0.03810	-0.535000	0.06231	.	.	-0.259000	0.06933	0.000000	0.06391	0.000000	0.08366	0.077000	0.17074	0.2301:0.0:0.424:0.3459	3.756	0.08111	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	745.43	35	chr1	247723107	.	A	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.417;DP=422;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=2.63;SOR=0.512	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,110,1214	9	0	1	0
chr1	247738723	247738723	G	A	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.G109A:p.V37M	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000843318760879	0.0002	.	4.972e-05	0	8.673e-05	0	0	4.497e-05	0.0011	6.057e-05	5.82e-05	9	154602	rs201271082	0.0001	0.0001	8.387e-05	0.0001	0.0029	8.31e-05	7.57e-05	0.0017	0.0013	0.0003	0.0005	0	0	0	0.0029	4.286e-05	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0.0068	2.94e-05	0.0009	0	0.03	0.45393	D	0.019	0.59159	D	.	.	.	.	.	.	0.426261	0.04678	N	1.880630	1	0.08975	N	.	.	.	4.35	0.02319	T	0.63	0.02404	N	0.124	0.11626	-0.9934	0.31722	T	0.007	0.02282	T	7	0.04402861	0.03316	T	8.43E-4	0.00713	T	0.018	0.03083	.	.	0.0138822411134	0.00435	0.05187000595156568	0.05128	0.0662604446901	0.07392	.	.	.	0.006925	0.06354	T	-0.6403	0.00083	T	-0.823373	0.01385	T	0.0367441129090987	0.03111	T	0.138486	0.01104	T	0.026860323	0.01798	0.04696181	0.06662	0.026860323	0.01798	0.04696181	0.06661	-5.155	0.38481	T	.	.	0.105	0.19316	B	.	.	-1.437702	0.00334	0.006	0.59070062216873132	0.06138	0.00090	0.00598	N	AEFBI	0.021481	0.00961	N	-1.39077501083498	0.02724	0.1206785	-1.64703671820107	0.01391	0.06286533	0.144485070848767	0.17333	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-7.21	0.01340	-6.679000	0.00071	.	.	-1.688000	0.00776	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2935:0.342:0.2724:0.092	3.020	0.05704	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2796.43	33	chr1	247738723	.	G	A	2796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.669;DP=524;ExcessHet=0;FS=6.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.032;SOR=0.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	9	0	1	0
chr1	247738768	247738768	C	T	exonic	OR14K1	.	nonsynonymous SNV	OR14K1:NM_001004732:exon1:c.C154T:p.R52C	.	426	1062	34	0	0	34	0.0157553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0066	0.00279553	0.0071	0.0009	0.0027	0	0.0012	0.0110	0.0111	0.0044	0.0070633	1092	154602	rs151028061	0.0076	0.0076	0.0073	0.0078	0.0200	0.0074	0.0073	0.0165	0.0153	0.0016	0.0046	0.0077	5.545e-05	0.0022	0.0200	0.0102	0.0082	0.0050	0.0054	0.0054	0.0058	0.0049	0.0088	0.0050	0.0049	0.0082	0.0080	0.0016	0	0.0046	0.0081	0	0.0009	0.0204	0.0088	0.0043	0.0052	0.122	0.27663	T	0.091	0.40110	T	.	.	.	.	.	.	0.130435	0.18659	U	0.376625	1	0.08975	N	.	.	.	7.73	0.00343	T	-3.71	0.70674	D	0.162	0.17002	-0.9128	0.46505	T	0.000	0.00152	T	7	0.013116866	0.00279	T	.	.	.	0.055	0.15663	.	.	0.0551355673512	0.04727	0.07891345326233465	0.07826	0.0838883208807	0.09463	.	.	.	0.019488	0.15519	T	-0.644886	0.00078	T	-0.689716	0.06405	T	0.0224859296631958	0.00963	T	0.252475	0.03851	T	0.09187855	0.21540	0.07249355	0.15646	0.09187855	0.21540	0.07249355	0.15646	-6.274	0.48516	T	.	.	0.087	0.11269	B	.	.	0.586348	0.09550	6.324	0.81515835373729739	0.13724	0.02242	0.06502	N	AEFBI	0.074102	0.14843	N	-0.952447968329772	0.09637	0.4570143	-1.1980015840912	0.05943	0.2846429	1.22797413150332E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.62	-6.07	0.01976	0.201000	0.17074	.	.	-1.040000	0.01667	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4644:0.2507:0.1162:0.1687	1.914	0.03093	958	0.09170	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2208.43	224	chr1	247738768	.	C	T	2208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.361;DP=543;ExcessHet=0;FS=7.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.37;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	9	0	1	0
chr1	247841812	247841812	C	A	exonic	OR11L1	.	nonsynonymous SNV	OR11L1:NM_001001959:exon1:c.G85T:p.V29F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000817092348505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.385	0.15746	T	0.009	0.15093	B	0.006	0.12133	B	0.807199	0.09279	U	0.862887	1	0.08975	N	0.87	0.21467	L	7.25	0.00428	T	-1.89	0.44094	N	0.139	0.13769	-0.9421	0.42282	T	0.001	0.00287	T	10	0.042234004	0.02953	T	8.17E-4	0.00670	T	0.027	0.05988	0.405	0.43738	0.354396617058	0.35051	0.1556322029912174	0.15484	0.0397869265571	0.04249	0.219152480364	0.01262	T	0.030666	0.21682	T	-0.293763	0.09262	T	-0.659747	0.08284	T	0.0588801167905331	0.06991	T	0.0724927	0.00530	T	0.07245021	0.16118	0.09013196	0.21117	0.07245021	0.16118	0.09013196	0.21116	-5.532	0.42166	T	.	.	0.084	0.09627	B	.	.	0.773909	0.11441	8.046	0.92764003248883453	0.22274	0.02678	0.07307	N	AEFDBI	0.030420	0.03061	N	-0.940465421774266	0.09908	0.4710711	-0.946974924739065	0.10993	0.5573292	1.97799550812837E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	1.25	0.20475	-2.355000	0.01168	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.084000	0.17470	0.1489:0.4526:0.145:0.2536	1.503	0.02332	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	673.43	69	chr1	247841812	.	C	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.111;SOR=0.765	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	247896487	247896487	C	A	exonic	OR2W3	.	nonsynonymous SNV	OR2W3:NM_001001957:exon1:c.C901A:p.L301M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.00249526948336	.	.	8.38e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs780525144	2.806e-05	2.805e-05	6.808e-06	4.952e-05	0.0005	2.087e-05	1.879e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.203	0.27325	T	1.0	0.90584	D	0.992	0.80445	D	0.000229	0.47286	D	0.000000	1	0.08975	N	1.08	0.27187	L	0.87	0.46412	T	-1.06	0.27669	N	0.281	0.31814	-0.9310	0.43992	T	0.202	0.55836	T	10	0.13607836	0.25892	T	0.002495	0.04953	T	0.220	0.51569	0.536	0.64585	0.308278614506	0.30437	0.16233420741761348	0.16153	.	.	0.279312282801	0.07396	T	0.007757	0.07145	T	-0.342709	0.05203	T	-0.393795	0.34107	T	0.103865139186382	0.12776	T	0.732927	0.34859	T	0.09771456	0.23037	0.08905937	0.20804	0.09771456	0.23037	0.08905937	0.20804	-5.231	0.39255	T	.	.	0.123	0.25753	B	.	.	0.522955	0.08917	5.698	0.65512603293005778	0.07794	0.08548	0.14462	N	AEFBI	0.058004	0.10850	N	-0.160545818934672	0.34789	1.98993	-0.384631754188764	0.25455	1.399936	3.83575852005089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	2.28	0.27583	-0.211000	0.09336	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.0:0.7688:0.0:0.2312	9.970	0.40916	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	835.43	58	chr1	247896487	.	C	A	835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.115;DP=434;ExcessHet=0;FS=4.344;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.14;SOR=0.241	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr1	247966002	247966002	T	C	exonic	OR2AK2	.	nonsynonymous SNV	OR2AK2:NM_001004491:exon1:c.T671C:p.L224P	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00629404517263	0.0010	0.00159744	0.0023	0.0006	0.0017	0	0.0003	0.0027	0.0046	0.0042	0.0021733	336	154602	rs143777155	0.0027	0.0027	0.0027	0.0028	0.0123	0.0027	0.0026	0.0100	0.0092	0.0004	0.0012	0.0053	0.0001	0.0002	0.0123	0.0028	0.0038	0.0046	0.0017	0.0017	0.0018	0.0016	0.0043	0.0015	0.0015	0.0029	0.0024	0.0007	0	0.0011	0.0055	0	0.0005	0.0170	0.0023	0.0043	0.0043	.	.	.	.	.	.	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.08975	N	1.29	0.32370	L	.	.	.	.	.	.	.	.	-0.9933	0.31749	T	0.171	0.51245	T	9	0.018920064	0.00416	T	0.006294	0.16522	T	0.066	0.19193	.	.	0.548865971634	0.54542	0.5532750783688914	0.55253	0.279006609855	0.30376	0.22066795826	0.01349	T	0.015167	0.12771	T	-0.546682	0.00305	T	-0.557644	0.16599	T	0.0761684574638909	0.09491	T	0.546745	0.18722	T	0.6006469	0.72726	0.48425713	0.70144	0.6006469	0.72727	0.48425713	0.70145	-5.041	0.37282	T	.	.	0.166	0.36594	B	.;.	.;.	2.478522	0.31957	18.90	0.98584754275036668	0.43284	0.01664	0.05329	N	AEFBI	0.055755	0.10250	N	-0.342586406668038	0.27546	1.512148	-0.611833345202242	0.19189	1.028438	0.00198231628040838	0.09061	0.487112	0.14033	0	0.232529	0.04832	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	1.33	0.20958	-0.336000	0.07908	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1483:0.0:0.8517	5.721	0.17255	940	0.13648	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.005051	0.013587	0.026316	0.000000	0.008621	0.018293	0.018939	0.05	2721.43	39	chr1	247966002	.	T	C	2721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=712;ExcessHet=0;FS=4.55;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.162;SOR=1.006	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,108,1620	9	0	1	0
chr1	248038745	248038745	G	A	exonic	OR2L2	.	nonsynonymous SNV	OR2L2:NM_001004686:exon1:c.G478A:p.V160I	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00197246020742	0.0019	0.000798722	0.0015	0.0004	0.0008	0	0.0005	0.0024	0	0.0005	0.0014942	231	154602	rs146509597	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0025	0.0024	0.0003	0.0006	7.652e-05	0	0.0005	0.0012	0.0025	0.0016	0.0007	0.0011	0.0011	0.0011	0.0012	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0.0007	0	0	0.0002	0	0.0020	0.0009	0.0004	0.389	0.10874	T	0.679	0.06128	T	0.001	0.07471	B	0.02	0.19048	B	0.143394	0.02903	U	2.120970	1	0.08975	N	0.15	0.08895	N	1.22	0.37052	T	-0.69	0.19720	N	0.057	0.02861	-1.0199	0.23747	T	0.070	0.28577	T	10	0.0074587166	0.00169	T	0.001972	0.03535	T	0.009	0.00846	.	.	0.0551355673512	0.04727	0.03582228898664548	0.03529	0.0154856023659	0.01475	0.201332330704	0.00497	T	0.003716	0.03121	T	-0.679017	0.00049	T	-0.752129	0.03404	T	0.000255671766353771	0.00002	T	0.728627	0.34357	T	0.039619584	0.05505	0.031232359	0.01685	0.039619584	0.05504	0.031232359	0.01685	-3.835	0.21328	T	.	.	0.077	0.07083	B	.;.;.	.;.;.	-0.687930	0.01349	0.075	0.5580624574880515	0.05419	0.00808	0.03281	N	AEFDI	0.021197	0.00918	N	-1.25312094537153	0.04258	0.1918495	-1.37374089245119	0.03534	0.1650454	1.52753510087019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.9	-1.73	0.07646	-3.213000	0.00614	-20.000000	0.00162	-2.337000	0.00312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3611:0.0:0.6389:0.0	7.001	0.23988	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5287.43	33	chr1	248038745	.	G	A	5287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.167;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.721;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1250	9	0	1	0
chr1	248239536	248239536	G	T	exonic	OR2M4	.	nonsynonymous SNV	OR2M4:NM_017504:exon1:c.G608T:p.C203F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00354842020129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263209670	3.42e-06	3.42e-06	0	6.875e-06	4.637e-05	1e-06	7.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	1.656e-05	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000320	0.45977	D	0.000000	1	0.08975	N	2.32	0.66415	M	1.4	0.33630	T	-10.87	0.99235	D	0.146	0.14763	-1.0776	0.07821	T	0.132	0.44288	T	10	0.47378993	0.60021	T	0.003548	0.08092	T	0.113	0.31778	0.549	0.66436	0.890235384139	0.88915	0.19755784199407003	0.19672	0.709099904505	0.61589	0.273340344429	0.06581	T	0.031095	0.21883	T	-0.267607	0.12025	T	-0.440648	0.28735	T	0.999064981937408	0.96056	D	0.730727	0.34650	T	0.83167213	0.86019	0.51425076	0.71933	0.83167213	0.86020	0.51425076	0.71934	-8.784	0.66296	D	.	.	0.212	0.43989	B	.;.	.;.	2.746029	0.35978	20.1	0.98609727965185545	0.43625	0.02409	0.06817	N	AEFI	0.064070	0.12420	N	-0.0129268087829543	0.41271	2.46556	-0.176741649294746	0.32393	1.842525	2.98272819703517E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.34	2.31	0.27816	-1.166000	0.03239	-0.992000	0.06676	0.593000	0.32247	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.1786:0.6394:0.182	7.375	0.25994	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2920.43	50	chr1	248239536	.	G	T	2920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.05;DP=593;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-1.101;SOR=0.642	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr1	248273651	248273651	G	C	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.C164G:p.T55R	.	464	1053	1	0	4	5	0.000474608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000823765542666	.	0.00219649	0.0003	0.0014	0	0.0001	0	0.0003	0	0	0.0004226	11	26028	rs200099241	0.0004	0.0009	0.0004	0.0004	0.0021	0.0004	0.0004	0.0017	0.0016	0.0021	6.719e-05	0.0020	0.0002	3.744e-05	0.0007	0.0004	0.0005	6.958e-05	0.0025	0.0068	0.0026	0.0023	0.0076	0.0022	0.0022	0.0069	0.0066	0.0076	0	0.0007	0.0029	0	9.427e-05	0	0.0005	0.0024	0	0.034	0.44029	D	0.032	0.53426	D	0.052	0.22494	B	0.07	0.27859	B	0.002679	0.36137	U	0.000000	0.561935	0.31249	N	2.87	0.83286	M	7.12	0.00443	T	-4.15	0.75297	D	0.239	0.26957	-1.1117	0.02928	T	0.002	0.00738	T	10	0.013262421	0.00282	T	8.24E-4	0.00670	T	0.050	0.13987	.	.	0.387366425376	0.38348	0.3707034820033098	0.36984	1.23414605163	0.81429	0.229459643364	0.01928	T	0.00804	0.07400	T	-0.447884	0.01162	T	-0.51922	0.20374	T	0.135941162705421	0.15920	T	0.588241	0.21547	T	0.43025655	0.62769	0.36532795	0.61884	0.43025655	0.62769	0.36532795	0.61883	-8.245	0.62727	D	.	.	0.191	0.40968	B	.;.	.;.	1.594117	0.20388	14.72	0.98202979066494933	0.39140	0.06655	0.12673	N	AEFI	0.050669	0.08878	N	-0.422016234625839	0.24698	1.335497	-0.475297457888655	0.22836	1.242368	1.25424676217451E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	1.7	0.23359	0.216000	0.17370	-13.341000	0.00465	0.632000	0.51917	0.042000	0.21073	0.000000	0.08366	0.857000	0.40602	0.0:0.1877:0.8123:0.0	11.330	0.48705	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001152	0.012987	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1781.43	52	chr1	248273651	.	G	C	1781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.43;DP=1215;ExcessHet=0;FS=17.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.72;MQRankSum=-5.707;QD=5.16;ReadPosRankSum=-0.078;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:178,0:178:99:.:.:0,120,1800:.	9	0	1	0
chr1	248361878	248361878	C	T	exonic	OR2T4	.	nonsynonymous SNV	OR2T4:NM_001004696:exon1:c.C298T:p.L100F	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000557893716582	0.0012	0.000199681	0.0013	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0001	0.0012225	189	154602	rs142091573	0.0019	0.0019	0.0021	0.0018	0.0068	0.0019	0.0018	0.0051	0.0045	0.0003	0.0020	3.826e-05	0.0001	0.0003	0.0068	0.0023	0.0018	0.0001	0.0012	0.0012	0.0013	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0	0	0	0.0034	0.0020	0.0019	0.0002	0.211	0.19569	T	0.207	0.26969	T	0.019	0.17989	B	0.016	0.17743	B	0.017570	0.27690	N	0.172440	1	0.08975	N	-0.25	0.03863	N	7.82	0.00335	T	-1.99	0.45949	N	0.02	0.00308	-0.9808	0.34817	T	0.001	0.00188	T	10	0.0059937537	0.00134	T	5.58E-4	0.00221	T	0.048	0.13305	.	.	0.163833314356	0.15978	0.039154727845386976	0.03861	0.156088582231	0.17621	0.292360067368	0.09266	T	0.018371	0.14822	T	-0.670527	0.00055	T	-0.740869	0.03854	T	0.0070096497158153	0.00080	T	0.79482	0.43725	T	0.11237196	0.26548	0.10960948	0.26419	0.11237196	0.26548	0.10960948	0.26418	-3.418	0.15300	T	.	.	0.094	0.14523	B	.;.	.;.	0.470716	0.08402	5.158	0.98166550684512988	0.38822	0.00442	0.02154	N	AEFI	0.020250	0.00781	N	-0.889786913878446	0.11084	0.5330406	-0.862124958080193	0.12996	0.6717601	1.20225241510058E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	-0.834	0.10234	-0.692000	0.05228	-20.000000	0.00162	0.510000	0.23265	0.000000	0.06391	0.000000	0.08366	0.912000	0.44740	0.0:0.5519:0.0:0.4481	8.800	0.34064	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002643	0.000000	0.004076	0.008197	0.000000	0.000000	0.000000	0.000000	0.05	4361.43	251	chr1	248361878	.	C	T	4361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.088;DP=2117;ExcessHet=0;FS=1.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=0.167;QD=12.29;ReadPosRankSum=0.542;SOR=0.757	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	9	0	1	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3212.14	93	chr1	248441544	.	G	A	3212.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.25;DP=1127;ExcessHet=0.2348;FS=2.981;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=44.53;MQRankSum=8.15;QD=14.09;ReadPosRankSum=1.88;SOR=0.519	GT:AD:DP:GQ:PL	0/0:152,0:152:99:0,120,1800	8	0	2	0
chr1	248452807	248452807	G	A	exonic	OR2T2	.	nonsynonymous SNV	OR2T2:NM_001004136:exon1:c.G10A:p.E4K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00174753115271	.	.	1.694e-05	0	0.0002	0	0	0	0	0	3.84e-05	1	26028	rs750175037	2.053e-06	2.052e-06	1.362e-06	2.751e-06	5.981e-05	5.5e-07	1.5e-07	9.91e-06	3.7e-06	5.981e-05	2.236e-05	0	0	0	0	0	0	0	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.31987	T	0.019	0.59159	D	0.004	0.12183	B	0.002	0.06944	B	0.712225	0.06264	N	1.175380	1	0.08975	N	1.8	0.47472	L	4.77	0.01563	T	-1.07	0.27876	N	0.209	0.23253	-0.9035	0.47617	T	0.005	0.01725	T	10	0.06417993	0.08473	T	0.001748	0.02960	T	0.029	0.06676	0.402	0.43245	0.556605298633	0.55320	0.5664316079613435	0.56571	1.62779757963	0.89172	0.411161035299	0.26618	T	0.019537	0.15549	T	-0.231406	0.16463	T	-0.570175	0.15434	T	0.0436598025262356	0.04359	T	.	.	.	0.044922356	0.07265	0.036965754	0.03251	0.044922356	0.07265	0.036965754	0.03250	-5.222	0.39165	T	.	.	0.126	0.26638	B	.;.;.	.;.;.	1.027424	0.14072	10.64	0.97205826908914739	0.32833	0.03351	0.08438	N	AEFBI	0.024085	0.01436	N	-1.02322931699092	0.08123	0.3797959	-1.08056321651894	0.08083	0.3959129	1.17714754994835E-6	0.01202	0.490419	0.18000	1	0.434261	0.06401	1	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.76	0.67	0.17092	-0.230000	0.09093	0.881000	0.22395	-0.203000	0.08628	0.010000	0.18352	0.010000	0.20010	0.001000	0.02609	0.2491:0.3923:0.3586:0.0	3.993	0.09038	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1953.43	39	chr1	248452807	.	G	A	1953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.485;DP=827;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.88;MQRankSum=-3.723;QD=4.76;ReadPosRankSum=0.958;SOR=0.514	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1291	9	0	1	0
chr1	248473906	248473906	-	CTCCTGCCCTGCTGAAGCT	exonic	OR2T3	.	frameshift insertion	OR2T3:NM_001005495:exon1:c.556_557insCTCCTGCCCTGCTGAAGCT:p.S195Pfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.683e-06	0	0	0	0	1.548e-05	0	0	3.84e-05	1	26028	rs760163860	1.519e-05	1.575e-05	1.649e-05	1.388e-05	0.0019	9.95e-06	8.49e-06	0.0011	0.0008	0	2.248e-05	0	0	0	0.0019	5.45e-06	6.68e-05	0	3.627e-05	3.339e-05	7.024e-05	0	0.0002	1.361e-05	8.7e-06	6.014e-05	3.236e-05	0	0	0.0002	0	0	0	0	3.143e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2221.39	139	chr1	248473906	.	A	ACTCCTGCCCTGCTGAAGCT	2221.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.486;DP=669;ExcessHet=0;FS=0.744;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=54.66;MQRankSum=-2.338;QD=20.38;ReadPosRankSum=-0.999;SOR=0.844	GT:AD:DP:GQ:PL	0/1:52,57:109:99:2233,0,1992	9	0	1	0
chr1	248638325	248638325	G	T	exonic	OR2T35	.	nonsynonymous SNV	OR2T35:NM_001001827:exon1:c.C934A:p.Q312K	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000651785031621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773478284	0.0008	0.0005	0.0007	0.0008	0.0029	0.0007	0.0007	0.0017	0.0015	7.549e-05	0.0003	0	0	3.975e-05	0.0029	0.0008	0.0013	0.0018	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0	0	0	0.0010	0.0006	0.0016	0.224	0.18691	T	0.715	0.05434	T	0.0	0.02946	B	0.003	0.08700	B	0.405105	0.13072	N	0.663946	1	0.08975	N	0.155	0.08919	N	1.28	0.35960	T	-0.3	0.11913	N	0.142	0.14196	-0.9946	0.31405	T	0.029	0.12234	T	10	0.046363443	0.03818	T	6.52E-4	0.00350	T	0.015	0.02232	.	.	0.351146185902	0.34720	0.10346781363592959	0.10276	1.95920376204	0.93432	0.353717148304	0.18468	T	0.002057	0.01461	T	-0.353512	0.04510	T	-0.745572	0.03661	T	0.0677950714799263	0.08339	T	0.342966	0.07460	T	0.05353292	0.10144	0.044990294	0.05953	0.05353292	0.10144	0.044990294	0.05953	-4.112	0.25467	T	.	.	0.081	0.08417	B	.;.	.;.	-0.469683	0.01966	0.170	0.35780286028575425	0.02265	0.00643	0.02809	N	AEFI	0.027572	0.02277	N	-1.74467045494547	0.00695	0.0300075	-1.82722822433919	0.00676	0.0300648	1.39872963777933E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.14	-4.28	0.03475	-1.465000	0.02463	-2.347000	0.03869	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0975:0.1411:0.3308:0.4306	2.792	0.05060	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1112.43	58	chr1	248638325	.	G	T	1112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.296;DP=1126;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.19;MQRankSum=0.966;QD=9.19;ReadPosRankSum=0.066;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:139,0:139:99:.:.:0,120,1800:.	9	0	1	0
chr2	229986	229986	T	C	exonic	SH3YL1	.	nonsynonymous SNV	SH3YL1:NM_001159597:exon8:c.A761G:p.Q254R,SH3YL1:NM_015677:exon8:c.A761G:p.Q254R,SH3YL1:NM_001282682:exon10:c.A473G:p.Q158R,SH3YL1:NM_001282687:exon10:c.A473G:p.Q158R	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00423834516194	0.0014	0.000399361	0.0019	0.0005	0.0014	0	0	0.0027	0.0022	0.0013	0.0018434	285	154602	rs199653837	0.0024	0.0024	0.0024	0.0024	0.0057	0.0023	0.0023	0.0042	0.0037	0.0006	0.0021	0.0020	0	0.0005	0.0057	0.0027	0.0020	0.0014	0.0015	0.0016	0.0016	0.0015	0.0026	0.0014	0.0013	0.0022	0.0021	0.0001	0	0.0026	0.0009	0	0.0003	0.0034	0.0025	0.0043	0.0006	0.574	0.48186	T	0.585	0.09897	T	0.001	0.07471	B	0.001	0.04355	B	0.370414	0.13536	N	0.667620	0.54194	0.32854	D	1.645	0.42016	L	2.11	0.29085	T	-0.08	0.11913	N	0.169	0.22357	-1.0042	0.28696	T	0.045	0.19397	T	10	0.012736946	0.00272	T	0.004238	0.10247	T	0.012	0.01476	.	.	0.110078149338	0.10416	0.3546125790743127	0.35375	0.0842887182597	0.09520	0.305983483791	0.11300	T	0.063301	0.32140	T	-0.580779	0.00191	T	-0.610704	0.11927	T	0.000567911600228399	0.00005	T	0.676232	0.33902	T	0.020960541	0.00675	0.03468264	0.02580	0.020960541	0.00675	0.03468264	0.02579	-3.509	0.26009	T	.	.	0.072	0.11124	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.284495	0.02687	0.348	0.70691038010575358	0.09379	0.14179	0.18265	N	AEFGBI	0.106888	0.21312	N	-0.950254372025899	0.09686	0.4595417	-0.90197881772808	0.12047	0.6174713	0.0406218409034402	0.14448	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.8	2.34	0.28071	-0.037000	0.12116	-1.432000	0.05453	0.609000	0.47794	0.004000	0.16614	0.000000	0.08366	0.162000	0.20715	0.0:0.0:0.3663:0.6337	9.255	0.36735	849	0.35778	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.010101	0.002717	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	377.43	36	chr2	229986	.	T	C	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.945;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.401;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr2	1638926	1638926	G	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon21:c.C4126T:p.R1376C	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	366027	Inborn_genetic_diseases|not_provided|Anterior_segment_dysgenesis_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0414906527345	0.0004	.	0.0002	0	0	0	0	0.0004	0	0	0.0002523	39	154602	rs202081704	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	0.0001	4.472e-05	0	2.519e-05	1.873e-05	0.0002	0.0005	0.0002	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	7.24e-05	0	0.0003	0	0	0	0	0.0005	0	0	0.08	0.33585	T	0.053	0.47336	T	0.001	0.07471	B	0.001	0.04355	B	0.187772	0.16929	N	0.635120	0.999331	0.21346	N	1.39	0.34934	L	0.12	0.61089	T	-2.33	0.51646	N	0.163	0.17140	-1.0298	0.20519	T	0.103	0.38019	T	10	0.06985924	0.10084	T	0.041491	0.59953	D	0.135	0.36572	.	.	0.400468435593	0.39662	0.4580767984702474	0.45725	0.765822542623	0.64496	0.197311609983	0.00383	T	0.025743	0.19191	T	-0.393523	0.02552	T	-0.464653	0.26095	T	0.0686833657113886	0.08465	T	0.660434	0.26965	T	0.10524921	0.24885	0.056732856	0.10190	0.10524921	0.24884	0.056732856	0.10189	-5.602	0.42810	T	0.15143793752019005	0.17866	0.092	0.13409	B	.	.	2.624591	0.34115	19.54	0.97905938700492445	0.36780	0.56812	0.30213	D	AEFBCI	0.306597	0.41370	N	-0.570796702540349	0.19837	1.041282	-0.462617855517965	0.23191	1.263476	0.999960554841578	0.48965	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	2.565000	0.45602	7.086000	0.57489	0.675000	0.71128	0.372000	0.25940	1.000000	0.68203	0.002000	0.04165	0.0:0.0:0.8443:0.1556	13.518	0.61010	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1700.43	46	chr2	1638926	.	G	A	1700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.998;DP=553;ExcessHet=0;FS=1.996;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.306;SOR=0.905	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1396	9	0	1	0
chr2	1922412	1922412	C	T	exonic	MYT1L	.	nonsynonymous SNV	MYT1L:NM_001303052:exon10:c.G1357A:p.A453T,MYT1L:NM_001329845:exon10:c.G1357A:p.A453T,MYT1L:NM_001329846:exon10:c.G1357A:p.A453T,MYT1L:NM_001329847:exon10:c.G1357A:p.A453T,MYT1L:NM_001329848:exon10:c.G1357A:p.A453T,MYT1L:NM_001329849:exon10:c.G1357A:p.A453T,MYT1L:NM_001329851:exon10:c.G1357A:p.A453T,MYT1L:NM_001329852:exon10:c.G1357A:p.A453T,MYT1L:NM_015025:exon10:c.G1357A:p.A453T,MYT1L:NM_001329844:exon11:c.G1357A:p.A453T	Mental retardation, autosomal dominant 39, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00921942470499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.326	0.18789	T	0.728	0.45767	P	0.196	0.39801	B	0.000001	0.62929	D	0.096900	1	0.81001	D	2.425	0.70256	M	0.88	0.46028	T	-1.22	0.30964	N	0.264	0.29889	-1.0381	0.17893	T	0.096	0.36107	T	10	0.22837803	0.39741	T	0.009219	0.24225	T	0.117	0.32689	0.225	0.14960	0.151262610727	0.14761	0.4180459298702358	0.41720	0.585980788598	0.54220	0.609521508217	0.54247	T	0.039831	0.25325	T	-0.000435483	0.51595	T	-0.238402	0.50954	T	0.908967733383179	0.56371	D	0.868613	0.59716	D	0.18988818	0.40550	0.21257585	0.45732	0.18988818	0.40550	0.21257585	0.45731	-8.423	0.64350	D	0.18552011100585164	0.24109	0.141	0.41572	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.161441	0.42834	21.6	0.99845906577283383	0.92576	0.86239	0.45481	D	AEFDBI	0.433809	0.49512	N	0.257848015457298	0.54028	3.569501	0.365147135382715	0.59426	4.120215	0.999958096797616	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	3.243000	0.51090	6.002000	0.52504	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.604000	0.31488	0.0:1.0:0.0:0.0	20.294	0.98546	697	0.58201	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	358.43	35	chr2	1922412	.	C	T	358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.263;DP=500;ExcessHet=0;FS=73.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=1.32;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	9	0	1	0
chr2	1922414	1922414	A	G	exonic	MYT1L	.	nonsynonymous SNV	MYT1L:NM_001303052:exon10:c.T1355C:p.M452T,MYT1L:NM_001329845:exon10:c.T1355C:p.M452T,MYT1L:NM_001329846:exon10:c.T1355C:p.M452T,MYT1L:NM_001329847:exon10:c.T1355C:p.M452T,MYT1L:NM_001329848:exon10:c.T1355C:p.M452T,MYT1L:NM_001329849:exon10:c.T1355C:p.M452T,MYT1L:NM_001329851:exon10:c.T1355C:p.M452T,MYT1L:NM_001329852:exon10:c.T1355C:p.M452T,MYT1L:NM_015025:exon10:c.T1355C:p.M452T,MYT1L:NM_001329844:exon11:c.T1355C:p.M452T	Mental retardation, autosomal dominant 39, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.00956079778111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.3e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.21801	T	0.375	0.16376	T	0.915	0.53761	P	0.395	0.47529	B	0.000000	0.84330	D	0.074015	0.999998	0.58761	D	2.51	0.73131	M	0.93	0.44065	T	-1.13	0.29525	N	0.849	0.84505	-1.0716	0.09065	T	0.102	0.37669	T	10	0.47374427	0.60019	T	0.009561	0.25016	T	0.204	0.49076	0.384	0.40298	0.151262610727	0.14761	0.41840029990008015	0.41756	1.30224662513	0.83047	0.765963673592	0.76819	T	0.109006	0.42251	T	0.201767	0.74057	D	0.0520481	0.73719	D	0.89718109369278	0.54905	D	0.939006	0.77539	D	0.31228548	0.53983	0.2715907	0.53062	0.31228548	0.53983	0.2715907	0.53061	-12.095	0.85579	D	0.2617136407024451	0.35328	0.638	0.81580	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.110608	0.41958	21.4	0.95968949730145436	0.28323	0.96037	0.67248	D	AEFDBI	0.904455	0.85478	D	0.339383814597307	0.58182	3.988971	0.429364475211406	0.63401	4.573211	0.99995598278708	0.48110	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	7.234000	0.77597	8.139000	0.76678	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	1.0:0.0:0.0:0.0	16.341	0.82913	697	0.58201	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	356.43	35	chr2	1922414	.	A	G	356.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.683;DP=603;ExcessHet=0;FS=73.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.26;ReadPosRankSum=1.19;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	9	0	1	0
chr2	1922416	1922416	C	G	exonic	MYT1L	.	nonsynonymous SNV	MYT1L:NM_001303052:exon10:c.G1353C:p.K451N,MYT1L:NM_001329845:exon10:c.G1353C:p.K451N,MYT1L:NM_001329846:exon10:c.G1353C:p.K451N,MYT1L:NM_001329847:exon10:c.G1353C:p.K451N,MYT1L:NM_001329848:exon10:c.G1353C:p.K451N,MYT1L:NM_001329849:exon10:c.G1353C:p.K451N,MYT1L:NM_001329851:exon10:c.G1353C:p.K451N,MYT1L:NM_001329852:exon10:c.G1353C:p.K451N,MYT1L:NM_015025:exon10:c.G1353C:p.K451N,MYT1L:NM_001329844:exon11:c.G1353C:p.K451N	Mental retardation, autosomal dominant 39, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0214902975924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	4.38e-05	0	1.377e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.41096	D	0.417	0.15355	T	0.988	0.62325	D	0.613	0.53279	P	0.000002	0.62929	D	0.131223	0.999907	0.50806	D	2.32	0.66415	M	0.88	0.46028	T	-0.86	0.23808	N	0.506	0.53796	-1.0967	0.04514	T	0.091	0.34710	T	10	0.19530207	0.35377	T	0.02149	0.44265	T	0.119	0.33137	0.262	0.20631	0.168254554758	0.16434	0.4438789170227145	0.44305	1.52043483366	0.87419	0.685524106026	0.65062	T	0.050378	0.28578	T	-0.144078	0.29243	T	-0.444734	0.28280	T	0.929435193538666	0.59350	D	0.963704	0.88767	D	0.13573089	0.31490	0.1420035	0.33798	0.13573089	0.31490	0.1420035	0.33797	-10.603	0.77437	D	0.25720278791488604	0.34762	0.858	0.88830	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.385714	0.30632	18.50	0.99636334943281102	0.76387	0.88235	0.48072	D	AEFDBI	0.506906	0.53743	D	-0.239068154143246	0.31543	1.76969	-0.253152141008948	0.29664	1.663704	0.0903339886032707	0.16107	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	-0.673	0.10802	0.549000	0.23037	0.291000	0.16873	-0.171000	0.11205	0.999000	0.42656	0.990000	0.31317	0.842000	0.39752	0.0:0.2117:0.0:0.7883	11.465	0.49479	697	0.58201	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	359.43	35	chr2	1922416	.	C	G	359.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.947;DP=595;ExcessHet=0;FS=73.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.1;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1130:.	9	0	1	0
chr2	3499049	3499049	C	T	exonic	ADI1	.	nonsynonymous SNV	ADI1:NM_001306077:exon4:c.G436A:p.E146K,ADI1:NM_018269:exon4:c.G454A:p.E152K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0182922503201	0.0006	0.000199681	0.0004	0.0003	8.646e-05	0	0.0006	0.0006	0	0	0.0004916	76	154602	rs143494796	0.0010	0.0010	0.0011	0.0009	0.0012	0.0009	0.0009	0.0012	0.0012	0.0003	0.0003	0	0	0.0003	0	0.0012	0.0008	0	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0003	0	0.0011	0	0	0.0003	0	0.0012	0.0009	0	0.004	0.68238	D	0.01	0.65728	D	0.044	0.21686	B	0.188	0.36237	B	0.000212	0.47681	D	0.242224	0.999962	0.52935	D	3.65	0.94181	H	.	.	.	-3.19	0.65512	D	0.317	0.44379	-0.2799	0.75543	T	0.384	0.74017	T	9	0.103964746	0.19141	T	0.018292	0.40304	T	0.420	0.72930	.	.	0.351180957027	0.34734	0.6746652736622659	0.67404	0.327423744052	0.34880	0.40165668726	0.25299	T	0.523081	0.83358	D	-0.289462	0.09690	T	-0.191933	0.55409	T	0.568959891796112	0.35195	D	0.928207	0.92647	D	0.48305067	0.66085	0.3890833	0.63736	0.48305067	0.66086	0.3890833	0.63736	-9.368	0.70035	D	.	.	0.295	0.52565	B	.;.	.;.	2.939676	0.39084	20.9	0.99830685011616438	0.91284	0.97455	0.74859	D	AEFBI	0.688905	0.64975	D	0.110711600717275	0.46961	2.928681	0.0446497815410737	0.41815	2.518424	0.976736715425694	0.29753	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.59	2.72	0.31179	4.436000	0.59691	2.886000	0.35360	0.599000	0.40250	1.000000	0.71638	0.984000	0.30665	0.777000	0.36790	0.0:0.7043:0.2957:0.0	13.675	0.61926	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	614.43	33	chr2	3499049	.	C	T	614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.517;DP=462;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.02;ReadPosRankSum=-0.197;SOR=0.93	GT:AD:DP:GQ:PL	0/1:69,33:102:99:626,0,1682	9	0	1	0
chr2	6865411	6865411	G	C	exonic	CMPK2	.	nonsynonymous SNV	CMPK2:NM_001256477:exon1:c.C286G:p.Q96E,CMPK2:NM_001256478:exon1:c.C286G:p.Q96E,CMPK2:NM_207315:exon1:c.C286G:p.Q96E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.245554489239	.	0.000798722	0	.	.	.	.	.	.	0	0.0002689	7	26028	rs551328105	0.0002	0.0002	8.388e-05	0.0002	0.0042	0.0001	0.0001	0.0037	0.0035	0	0	0	0	0	0.0003	0	0.0001	0.0042	0.0001	0.0001	3.862e-05	0.0003	0.0046	9.759e-05	8.271e-05	0.0031	0.0026	0	0	0	0	0	0	0	0	0	0.0046	0.2	0.20381	T	0.482	0.11829	T	0.135	0.27304	B	0.04	0.23831	B	0.084806	0.20676	N	0.473077	0.999962	0.18878	N	0.975	0.24501	L	0.87	0.46412	T	-0.74	0.20791	N	0.232	0.26111	-1.0600	0.11756	T	0.057	0.24130	T	10	0.013622165	0.00288	T	0.245554	0.88891	D	0.073	0.21317	0.349	0.34598	0.487348339145	0.48367	0.34831993241837295	0.34745	0.400708583971	0.41073	0.834252715111	0.87214	D	0.033367	0.22885	T	-0.166219	0.25810	T	-0.476539	0.24814	T	0.185509696602821	0.19576	T	0.592541	0.22223	T	0.16578926	0.36873	0.19702576	0.43463	0.16578926	0.36873	0.19702576	0.43462	-3.786	0.20595	T	.	.	0.157	0.37121	B	.;.;.	.;.;.	2.186192	0.27867	17.61	0.47504328680118674	0.03889	0.95812	0.66259	D	AEFDBHCIJ	0.158337	0.28398	N	-0.604306175293981	0.18814	0.9798053	-0.531617187099911	0.21296	1.151405	0.999999995702044	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.79	3.79	0.42757	1.958000	0.40027	6.667000	0.56266	0.473000	0.21965	0.099000	0.22773	1.000000	0.68203	0.749000	0.35751	0.0:0.0:0.7758:0.2242	8.841	0.34303	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	66.44	18	chr2	6865411	.	G	C	66.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.136;DP=132;ExcessHet=0;FS=0;InbreedingCoeff=-0.0534;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=-0.755;SOR=0.446	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,276	9	0	1	0
chr2	6996945	6996945	C	T	exonic	RNF144A	.	nonsynonymous SNV	RNF144A:NM_001349181:exon3:c.C19T:p.R7W,RNF144A:NM_001349182:exon3:c.C19T:p.R7W,RNF144A:NM_001349183:exon3:c.C19T:p.R7W,RNF144A:NM_001349184:exon3:c.C19T:p.R7W,RNF144A:NM_001349185:exon3:c.C19T:p.R7W,RNF144A:NM_014746:exon3:c.C19T:p.R7W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0243988104386	7.7e-05	0.000199681	4.119e-05	9.61e-05	0	0	0	4.496e-05	0	6.056e-05	3.88e-05	6	154602	rs151171616	2.805e-05	2.805e-05	2.996e-05	2.613e-05	2.519e-05	2.087e-05	1.879e-05	1.175e-05	9.55e-06	0	2.236e-05	0.0004	2.519e-05	0	0	1.799e-05	0.0001	0	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0002	2.108e-05	1.526e-05	1.171e-05	6.25e-06	0	0	0	0.0009	0	0	0	4.41e-05	0	0.0002	0.005	0.63226	D	0.011	0.64786	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	0.69	0.16971	N	0.35	0.58029	T	-1.15	0.44852	N	0.69	0.69562	-0.7223	0.59349	T	0.208	0.56758	T	10	0.12987906	0.24714	T	0.024399	0.47387	T	0.230	0.53062	.	.	0.15499578495	0.15088	0.5570866115166114	0.55635	1.23702874701	0.81492	0.813836812973	0.84080	D	0.052435	0.29161	T	0.0468116	0.57932	T	0.00531206	0.70679	D	0.429997622966766	0.30060	T	0.963704	0.86510	D	0.30734438	0.53555	0.16586201	0.38348	0.30734438	0.53555	0.16586201	0.38347	-5.972	0.46045	T	.	.	0.209	0.43653	B	.;.;.	.;.;.	5.647202	0.92785	33	0.99923784332509469	0.98917	0.86629	0.45950	D	AEFDBI	0.643232	0.61992	D	0.552340413400399	0.70225	5.470324	0.583473977845704	0.73756	6.022667	0.999524012626002	0.40175	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.62	4.63	0.57175	2.388000	0.44051	3.835000	0.40014	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2566:0.7434:0.0:0.0	13.681	0.61962	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1360.43	44	chr2	6996945	.	C	T	1360.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=504;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.28;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	9	0	1	0
chr2	10048266	10048266	C	T	exonic	KLF11	.	nonsynonymous SNV	KLF11:NM_001177716:exon3:c.C878T:p.S293F,KLF11:NM_001177718:exon3:c.C878T:p.S293F,KLF11:NM_003597:exon3:c.C929T:p.S310F	Maturity-onset diabetes of the young, type VII	0	1520	2	0	0	2	0.000657462	.	.	.	1709907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.00854484760822	.	.	6.777e-05	0	0	0	0	4.565e-05	0	0.0004	5.17e-05	8	154602	rs767278357	2.061e-05	2.052e-05	1.093e-05	3.041e-05	0.0005	1.462e-05	1.269e-05	0.0001	0.0001	0	0	0	0	0	0.0005	6.316e-06	3.328e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.045	0.40832	D	0.056	0.47581	T	0.011	0.15914	B	0.005	0.11217	B	0.617640	0.10808	N	0.850395	1	0.08975	N	2.685	0.78553	M	2.4	0.15724	T	-2.69	0.57920	D	0.203	0.23758	-1.0532	0.13520	T	0.042	0.17869	T	9	0.078736454	0.12585	T	0.008545	0.22581	T	0.136	0.36778	0.325	0.30711	0.507213507908	0.50361	0.2750377994239466	0.27416	0.143818494934	0.16242	0.334207236767	0.15567	T	0.261731	0.63324	T	-0.423824	0.01618	T	-0.534191	0.18869	T	0.203251879092625	0.20594	T	0.751425	0.37327	T	0.075032614	0.16879	0.119907446	0.28939	0.075032614	0.16879	0.119907446	0.28938	-6.271	0.48548	T	.	.	0.370	0.58487	A	.;.;.	.;.;.	2.929918	0.38926	20.8	0.99744136648318193	0.83703	0.12966	0.17585	N	AEFGBCI	0.109242	0.21704	N	-0.483284518054807	0.22629	1.209616	-0.450637435879886	0.23531	1.283696	0.999995813683563	0.74766	0.634777	0.41761	0	0.626922	0.53725	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.34	4.44	0.53164	0.489000	0.22096	2.229000	0.31515	0.580000	0.29708	0.000000	0.06391	0.012000	0.20211	0.642000	0.32476	0.0:0.5713:0.2423:0.1864	5.054	0.13859	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2374.43	35	chr2	10048266	.	C	T	2374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=528;ExcessHet=0;FS=3.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.793;SOR=0.93	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	0	1	0
chr2	10802598	10802598	T	C	exonic	PDIA6	.	nonsynonymous SNV	PDIA6:NM_005742:exon2:c.A62G:p.Y21C,PDIA6:NM_001282705:exon3:c.A206G:p.Y69C,PDIA6:NM_001282706:exon3:c.A77G:p.Y26C,PDIA6:NM_001282707:exon3:c.A53G:p.Y18C,PDIA6:NM_001282704:exon4:c.A218G:p.Y73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0500904166695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.492e-06	8.209e-06	1.477e-06	1.508e-06	1.551e-05	2.5e-07	9e-08	.	.	0	0	0	0	0	0	9.476e-07	0	1.551e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	1.06	0.39781	T	-7.55	0.95305	D	0.918	0.98065	-0.0856	0.80427	T	0.368	0.72818	T	10	0.855863	0.84782	D	0.05009	0.64095	D	0.645	0.86536	0.543	0.65589	0.778743473999	0.77670	0.6449372733511507	0.64428	0.936948820389	0.72059	0.70856654644	0.68386	T	0.261593	0.63309	T	0.278216	0.81164	D	0.161862	0.80921	D	0.998817980289459	0.95250	D	0.981402	0.95021	D	0.91655755	0.92915	0.8504035	0.91531	0.91655755	0.92916	0.8504035	0.91532	-16.137	0.97959	D	.	.	0.905	0.84405	P	.;.;.;.;.;.	.;.;.;.;.;.	4.652118	0.74163	26.1	0.99849985314069678	0.92925	0.98367	0.82057	D	AEFBI	0.932045	0.92180	D	0.938702500726902	0.93523	12.096	0.879141792078518	0.94596	12.88739	0.999999999999614	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	7.430000	0.79505	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.566	0.84437	770	0.49152	Thioredoxin domain;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1227.43	39	chr2	10802598	.	T	C	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=459;ExcessHet=0;FS=0.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1;SOR=0.778	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1339	9	0	1	0
chr2	11144058	11144058	T	C	exonic	C2orf50	.	nonsynonymous SNV	C2orf50:NM_001371320:exon3:c.T436C:p.F146L,C2orf50:NM_001371321:exon3:c.T436C:p.F146L,C2orf50:NM_182500:exon3:c.T436C:p.F146L	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00337620504078	0.0028	0.000399361	0.0029	0.0004	0.0011	0	0.0026	0.0045	0.0056	0.0004	0.0028007	433	154602	rs148657536	0.0030	0.0030	0.0031	0.0030	0.0045	0.0030	0.0029	0.0035	0.0034	0.0003	0.0014	0.0031	0	0.0022	0.0045	0.0035	0.0026	0.0002	0.0025	0.0025	0.0024	0.0026	0.0040	0.0023	0.0022	0.0036	0.0034	0.0006	0	0.0022	0.0046	0	0.0023	0.0034	0.0040	0.0033	0.0004	0.49	0.07994	T	0.815	0.03886	T	0.041	0.21357	B	0.028	0.21332	B	0.002621	0.36208	N	0.190712	0.732861	0.33738	D	1.735	0.44892	L	.	.	.	-2.13	0.48354	N	0.141	0.44570	-1.0193	0.23943	T	0.081	0.32090	T	9	0.0040706694	0.00080	T	0.003376	0.07542	T	0.032	0.07718	0.303	0.27164	0.0297737177859	0.01360	0.12184837138100313	0.12111	0.149921300314	0.16908	.	.	.	0.003865	0.03272	T	-0.460456	0.00977	T	-0.433236	0.29568	T	0.00991400461726251	0.00132	T	0.471453	0.13989	T	0.12265437	0.28817	0.10101952	0.24170	0.12265437	0.28817	0.10101952	0.24169	-2.006	0.03203	T	.	.	0.710	0.73575	P	.;.	.;.	1.844056	0.23430	16.01	0.77732686405548468	0.11999	0.41591	0.26691	N	AEFBI	0.061886	0.11862	N	-0.661078094397877	0.17138	0.8793467	-0.598418449430217	0.19533	1.048486	0.160406453495328	0.17584	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.33	3.18	0.35615	1.217000	0.32059	3.423000	0.38265	0.665000	0.62972	0.987000	0.36337	0.999000	0.35428	0.881000	0.42162	0.0:0.3067:0.0:0.6933	4.648	0.11965	957	0.09725	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	916.43	33	chr2	11144058	.	T	C	916.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=393;ExcessHet=0;FS=3.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-1.556;SOR=0.397	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	15942167	15942167	T	C	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293228:exon2:c.T103C:p.F35L,MYCN:NM_005378:exon2:c.T103C:p.F35L	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.044373811311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.06	0.45744	T	0.677	0.41330	P	0.518	0.48133	P	0.233754	0.03535	U	3.755950	1	0.81001	D	2.93	0.84523	M	1.49	0.31470	T	-4.1	0.74900	D	0.67	0.67822	-0.9421	0.42282	T	0.176	0.51974	T	10	0.64660263	0.69362	D	0.044374	0.61457	D	0.286	0.60456	0.684	0.82175	0.41089407703	0.40707	0.4334101353106042	0.43258	1.96884443498	0.93542	0.8407330513	0.88206	D	0.437509	0.78351	T	-0.0442364	0.45319	T	-0.301319	0.44585	T	0.985664367675781	0.76591	D	0.693531	0.30321	T	0.50143874	0.67179	0.5116405	0.71780	0.50143874	0.67180	0.5116405	0.71780	-9.153	0.68676	D	0.3311317344439049	0.42914	0.986	0.92555	P	.	.	5.096607	0.85133	28.5	0.99534555378436029	0.70087	0.94185	0.60371	D	AEFDBHCIJ	0.906427	0.85918	D	0.426405536680661	0.62880	4.51126	0.387417004661317	0.60788	4.270449	0.999999999989656	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.41	3.41	0.38145	7.806000	0.84575	5.954000	0.51702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.154	0.53373	961	0.08552	Transcription regulator Myc, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	167.43	35	chr2	15942167	.	T	C	167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.1;DP=650;ExcessHet=0;FS=184.301;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.4;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,35:173:99:.:.:179,0,2922:.	9	0	1	0
chr2	17515931	17515931	A	T	exonic	RAD51AP2	.	nonsynonymous SNV	RAD51AP2:NM_001099218:exon1:c.T2485A:p.Y829N,RAD51AP2:NM_001321233:exon5:c.T2458A:p.Y820N	.	467	1050	5	0	0	5	0.0023753	.	.	.	2427274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.0224668206143	0.0003	.	0.0002	0	0	0	0	0.0002	0.0011	0.0008	0.0001811	28	154602	rs370600205	9.032e-05	9.577e-05	6.717e-05	0.0001	0.0010	7.749e-05	7.29e-05	0.0008	0.0007	0	0	0.0013	0	0	0.0004	6.311e-06	0.0001	0.0010	7.899e-05	7.884e-05	5.149e-05	0.0001	0.0010	4.504e-05	3.518e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	4.417e-05	0	0.0010	0.078	0.33923	T	0.074	0.42976	T	0.4	0.34852	B	0.252	0.39069	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.33	0.35031	T	-5.49	0.85765	D	0.292	0.33030	-0.9623	0.38742	T	0.056	0.23488	T	9	0.018589675	0.00406	T	0.022467	0.45362	T	0.025	0.05312	.	.	0.0762999501168	0.06990	0.07542390067140127	0.07478	0.140722918308	0.15870	0.291297465563	0.09110	T	0.069886	0.33822	T	-0.491776	0.00636	T	-0.55844	0.16523	T	0.0968670818173914	0.12007	T	0.605339	0.22755	T	0.14584185	0.33413	0.3256797	0.58482	0.14584185	0.33412	0.3256797	0.58481	-1.494	0.01752	T	.	.	0.086	0.10787	B	.	.	0.027255	0.04473	1.189	0.61537561846614452	0.06734	0.03399	0.08513	N	AEDGBI	0.043322	0.06836	N	-1.20696287281599	0.04897	0.2220251	-1.35854085801754	0.03706	0.1734319	0.999244826510629	0.38873	0.616025	0.39624	0	0.574621	0.32753	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	-6.59	0.01663	-0.392000	0.07375	-0.096000	0.11999	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.363000	0.25954	0.5446:0.0995:0.3558:0.0	9.037	0.35458	768	0.49510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2292.43	152	chr2	17515931	.	A	T	2292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=661;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.218;SOR=0.642	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr2	20651060	20651060	-	CATGACGGCGGCGGGGACTC	exonic	HS1BP3	.	frameshift insertion	HS1BP3:NM_022460:exon1:c.3_4insGAGTCCCCGCCGCCGTCATG:p.Q2Efs*28	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440859218	3.046e-05	2.463e-05	3.676e-05	2.343e-05	0.0002	2.172e-05	1.911e-05	4.097e-05	2.107e-05	0	0	0	0	0	0	2.928e-05	6.855e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	466.39	27	chr2	20651060	.	G	GCATGACGGCGGCGGGGACTC	466.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.116;DP=219;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=0.211;SOR=1.123	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,690	9	0	1	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	215238	Familial_hypobetalipoproteinemia_1|Hypercholesterolemia,_familial,_1|not_specified|Familial_hypercholesterolemia|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN169374|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.047835	0.080808	0.062500	0.073099	0.050000	0.094828	0.015244	0.000000	0.1	17371.1	43	chr2	21007033	.	T	C	17371.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.787;DP=1956;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.19;SOR=0.719	GT:AD:DP:GQ:PL	0/1:438,426:864:99:9454,0,10518	8	0	2	0
chr2	21015388	21015388	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon22:c.A3490G:p.R1164G	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	425009	Hypercholesterolemia,_familial,_1|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1	MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.0872323104814	0.0003	0.000199681	4.942e-05	0	0	0	0	8.991e-05	0	0	5.17e-05	8	154602	rs149660265	2.463e-05	2.463e-05	2.586e-05	2.338e-05	0.0014	1.803e-05	1.6e-05	0.0007	0.0005	8.961e-05	0	0	0	0	0.0014	2.248e-05	0	0	7.222e-05	7.218e-05	7.709e-05	6.714e-05	0.0001	3.968e-05	3.125e-05	4.765e-05	3.339e-05	2.406e-05	0	6.537e-05	0	0	0	0.0068	0.0001	0	0	0.006	0.61437	D	0.001	0.83351	D	.	.	.	.	.	.	0.001746	0.38106	N	0.183760	0.876988	0.35674	D	.	.	.	5.63	0.00800	T	-3.14	0.64019	D	0.325	0.36569	-0.5994	0.64842	T	0.005	0.01506	T	10	0.25272202	0.42630	T	0.087232	0.74894	D	0.161	0.41658	.	.	0.731790606524	0.72940	0.722407770080351	0.72184	0.295235085784	0.31929	0.347360730171	0.17533	T	.	.	.	-0.30202	0.08471	T	-0.467057	0.25832	T	0.660339772701263	0.38911	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32420	B	.	.	3.692893	0.52622	23.3	0.9953767473898355	0.70274	0.94889	0.62681	D	AEFGBHCI	0.856972	0.77427	D	0.273668600819173	0.54818	3.646533	0.36393373938131	0.59350	4.112244	0.999999970702727	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	5.065000	0.64175	4.177000	0.42312	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.795000	0.37519	0.0:0.0:0.0:1.0	14.478	0.67136	863	0.32847	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2518.43	36	chr2	21015388	.	T	C	2518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.056;DP=549;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.161;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1375	9	0	1	0
chr2	23562344	23562344	C	T	exonic	KLHL29	.	nonsynonymous SNV	KLHL29:NM_052920:exon3:c.C148T:p.R50W	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.45549128671	.	.	0.0002	0	0	0	0	0.0002	0.0072	0	1.94e-05	3	154602	rs558454968	5.246e-05	5.13e-05	4.677e-05	5.831e-05	0.0004	4.264e-05	3.922e-05	6.169e-05	3.863e-05	0	0	0	0	0	0.0004	5.386e-05	0.0002	5.061e-05	7.882e-05	7.879e-05	5.137e-05	0.0001	0.0001	4.495e-05	3.511e-05	6.803e-05	5.086e-05	4.823e-05	0	6.541e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.929417	0.36926	D	0.55	0.14455	N	-0.85	0.74371	T	-1.57	0.37955	N	0.535	0.56317	-0.1638	0.78578	T	0.402	0.75288	T	9	0.5040903	0.61716	D	0.455491	0.94419	D	0.381	0.69863	0.318	0.29581	0.596065454935	0.59285	0.5586206083585827	0.55789	.	.	0.832406103611	0.86931	D	0.03148	0.22062	T	-0.201223	0.20629	T	-0.233332	0.51449	T	0.274639398822073	0.23945	T	0.908309	0.67561	D	0.12274774	0.28838	0.13873087	0.33124	0.12274774	0.28838	0.13873087	0.33123	-6.044	0.46646	T	.	.	0.646	0.70767	P	.	.	4.686662	0.75048	26.3	0.99918294624354953	0.98586	0.84469	0.43551	D	AEFDBI	0.473514	0.51817	N	0.302048932165448	0.56254	3.78979	0.277434468764627	0.54223	3.588112	0.999999723441956	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.62	3.73	0.41982	1.552000	0.35852	3.181000	0.36657	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.1919:0.8081:0.0:0.0	10.568	0.44373	918	0.19598	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1673.43	38	chr2	23562344	.	C	T	1673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.708;DP=428;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-0.127;SOR=0.603	GT:AD:DP:GQ:PL	0/1:47,69:116:99:1685,0,953	9	0	1	0
chr2	23642758	23642758	G	T	exonic	KLHL29	.	nonsynonymous SNV	KLHL29:NM_052920:exon5:c.G848T:p.G283V	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.129760174292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.861e-06	4.104e-06	2.823e-06	2.901e-06	3.708e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.708e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.021	0.58089	D	.	.	.	.	.	.	0.000005	0.62929	D	0.000000	1	0.81001	D	0.895	0.22405	L	-0.52	0.70717	T	-1.93	0.44852	N	0.513	0.54409	-0.1337	0.79315	T	0.417	0.76333	T	10	0.43197533	0.57550	T	0.12976	0.81185	D	0.162	0.41843	.	.	0.697566865013	0.69495	0.5506231764912577	0.54988	.	.	0.656798303127	0.60952	T	0.048417	0.28012	T	0.0103677	0.53075	T	-0.222884	0.52459	T	0.773802101612091	0.44669	D	0.817618	0.47476	T	0.52037203	0.68281	0.5191524	0.72218	0.52037203	0.68282	0.5191524	0.72219	-4.753	0.34039	T	.	.	0.102	0.18080	B	.	.	3.889625	0.56581	23.8	0.99717931697801465	0.81843	0.95559	0.65204	D	AEFDBI	0.585022	0.58361	D	0.40393680723641	0.61637	4.367649	0.454208103627809	0.64989	4.767138	0.999998816889082	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.603688	0.36954	0	0.491896	0.07777	0	.	.	4.99	4.99	0.65942	4.060000	0.57191	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.649	0.91381	930	0.16408	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	815.43	35	chr2	23642758	.	G	T	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.395;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1036	9	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	149.87	81	chr2	23864893	.	T	C	149.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.021;DP=546;ExcessHet=4.5998;FS=193.172;InbreedingCoeff=-0.4024;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.279;SOR=8.069	GT:AD:DP:GQ:PL	0/1:34,14:48:6:6,0,364	4	0	6	0
chr2	24122454	24122454	C	T	exonic	PFN4	.	nonsynonymous SNV	PFN4:NM_199346:exon2:c.G82A:p.E28K	.	436	1069	16	1	0	18	0.00834879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0786946541733	0.0029	0.000998403	0.0023	0.0010	0.0016	0	0.0002	0.0032	0.0022	0.0018	0.0023027	356	154602	rs79726112	0.0030	0.0030	0.0030	0.0030	0.0142	0.0029	0.0029	0.0117	0.0108	0.0013	0.0020	0.0124	0	0.0002	0.0142	0.0030	0.0039	0.0021	0.0022	0.0022	0.0024	0.0020	0.0032	0.0020	0.0019	0.0029	0.0027	0.0008	0	0.0020	0.0101	0	0.0002	0.0034	0.0032	0.0052	0.0010	0.028	0.46129	D	0.04	0.50809	D	0.979	0.59044	D	0.777	0.57175	P	0.000532	0.43581	D	0.099289	0.996221	0.43084	D	2.155	0.60227	M	-2.0	0.85393	D	-1.97	0.45587	N	0.473	0.50868	0.236	0.86507	D	0.588	0.85254	D	10	0.009845048	0.00221	T	0.078695	0.73063	D	0.526	0.79947	.	.	0.866705139298	0.86540	0.5705626291086122	0.56984	0.283278606516	0.30776	0.472666978836	0.35046	T	0.479601	0.80894	T	-0.240845	0.15241	T	-0.119572	0.61839	T	0.023854191259377	0.01126	T	0.784022	0.42156	T	0.16198626	0.36245	0.17695953	0.40265	0.16198626	0.36244	0.17695953	0.40265	-2.007	0.03207	T	.	.	0.176	0.38498	B	.	.	4.410877	0.68239	25.2	0.99896437978815156	0.96895	0.78735	0.38891	D	AEFDGBCI	0.654967	0.62746	D	0.406869818721528	0.61800	4.386025	0.384488827819136	0.60607	4.250301	0.999999991031277	0.74766	0.615755	0.39536	0	0.541556	0.11502	0	0.618376	0.41669	0	0.651492	0.60203	0	.	.	5.04	5.04	0.67293	4.124000	0.57676	7.532000	0.59933	0.599000	0.40250	0.868000	0.30757	1.000000	0.68203	0.441000	0.27694	0.0:1.0:0.0:0.0	14.290	0.65820	301	0.87912	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017641	0.020202	0.013587	0.038235	0.150000	0.008621	0.018293	0.011450	0.05	1385.43	41	chr2	24122454	.	C	T	1385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.173;DP=446;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.871;SOR=0.538	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr2	24838522	24838522	C	T	exonic	ADCY3	.	nonsynonymous SNV	ADCY3:NM_001377131:exon7:c.G733A:p.G245S,ADCY3:NM_001320613:exon8:c.G1456A:p.G486S,ADCY3:NM_001377129:exon8:c.G1456A:p.G486S,ADCY3:NM_001377130:exon8:c.G1456A:p.G486S,ADCY3:NM_001377132:exon8:c.G1456A:p.G486S,ADCY3:NM_004036:exon8:c.G1456A:p.G486S,ADCY3:NM_001377128:exon9:c.G1522A:p.G508S	.	.	.	.	.	.	.	.	.	.	.	3517033	ADCY3-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.572	0.0759767719127	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs781005762	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0001	1.99e-06	1.28e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	0	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.203	0.27325	T	0.998	0.73220	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999864	0.50061	D	2.425	0.70256	M	-1.43	0.80899	T	-4.03	0.74348	D	0.362	0.40364	0.332	0.88060	D	0.670	0.88549	D	10	0.5813639	0.65868	D	0.075977	0.72421	D	0.572	0.82629	0.456	0.52102	0.932476638886	0.93178	0.8212082496318382	0.82077	1.17232149453	0.79799	0.578073561192	0.49814	T	0.702855	0.91459	D	-0.0746003	0.40588	T	-0.0805062	0.64867	T	0.934307217597961	0.60168	D	0.915408	0.69775	D	0.46917528	0.65239	0.37395668	0.62572	0.46917528	0.65239	0.37395668	0.62571	-7.154	0.55150	T	.	.	0.227	0.61623	B	.;.;.;.;.	.;.;.;.;.	4.792364	0.77791	26.8	0.99770843550868826	0.85918	0.93342	0.57960	D	AEFDBI	0.424908	0.48989	N	0.650395258936975	0.76393	6.47842	0.599160872759908	0.74879	6.212883	0.999818114375701	0.43459	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	4.77	0.60425	2.478000	0.44848	5.798000	0.49917	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.982000	0.59238	0.0:0.9149:0.0:0.0851	11.128	0.47551	355	0.85216	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	755.43	70	chr2	24838522	.	C	T	755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=384;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.51;SOR=0.931	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1119	9	0	1	0
chr2	25161179	25161179	G	C	exonic	POMC	.	nonsynonymous SNV	POMC:NM_000939:exon3:c.C706G:p.R236G,POMC:NM_001319205:exon3:c.C706G:p.R236G,POMC:NM_001035256:exon4:c.C706G:p.R236G,POMC:NM_001319204:exon4:c.C706G:p.R236G	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	0	1519	3	0	0	3	0.000986518	.	.	.	28395	Obesity,_early-onset,_susceptibility_to|POMC-related_disorder|Obesity_due_to_pro-opiomelanocortin_deficiency|Inherited_obesity|not_provided	MedGen:C4016341|.|MONDO:MONDO:0012335,MedGen:C1857854,OMIM:609734,Orphanet:71526|MONDO:MONDO:0019182,MedGen:C4054476,OMIM:601665,Orphanet:77828|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.816	.	0.0030	0.00239617	0.0023	0.0009	0.0029	0	0.0002	0.0035	0.0011	0	0.0025808	399	154602	rs28932472	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0044	0.0052	0.0051	0.0006	0.0032	0.0070	0	0.0002	0.0002	0.0053	0.0050	0.0001	0.0028	0.0028	0.0027	0.0029	0.0054	0.0026	0.0025	0.0045	0.0041	0.0010	0.0099	0.0054	0.0086	0	0.0002	0	0.0038	0.0038	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	-1.97	0.85173	D	-6.37	0.91058	D	0.983	0.99337	0.599	0.91880	D	0.721	0.90426	D	10	0.017676592	0.00379	T	.	.	.	0.816	0.94085	.	.	0.955276429607	0.95480	0.6842527917949313	0.68364	1.13119082289	0.78624	0.580391466618	0.50140	T	0.522154	0.83309	D	0.0968016	0.63945	D	0.369998	0.91073	D	0.0484975188811876	0.05232	T	0.817418	0.48050	T	0.8182313	0.85101	0.73535645	0.84359	0.83719444	0.86409	0.76440287	0.86083	-8.779	0.66263	D	0.8018337034202868	0.87844	0.844	0.79442	P	.;.;.;.;.	.;.;.;.;.	5.586763	0.92348	32	0.99880495584688278	0.95653	0.96289	0.68414	D	AEFDBHCIJ	0.888240	0.82118	D	0.856714419905877	0.89489	9.992026	0.774459729071881	0.87966	9.409108	0.999999999994341	0.74766	0.696267	0.57585	0	0.685571	0.66316	0	0.691665	0.62940	0	0.56751	0.32155	0	.	.	5.15	4.24	0.49486	6.205000	0.72079	9.558000	0.80989	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.6899:0.3101	11.826	0.51539	552	0.72024	Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region|Pro-opiomelanocortin/corticotropin, ACTH, central region;Pro-opiomelanocortin/corticotropin, ACTH, central region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	931.43	35	chr2	25161179	.	G	C	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=438;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=1.23;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	9	0	1	0
chr2	25743927	25743927	C	G	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon10:c.G1630C:p.E544Q,ASXL2:NM_001369346:exon11:c.G2236C:p.E746Q,ASXL2:NM_018263:exon12:c.G2410C:p.E804Q	Shashi-Pena syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00709644128227	.	.	2.484e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs760941065	5.473e-06	5.472e-06	2.723e-06	8.252e-06	9.276e-05	2.35e-06	1.7e-06	4.579e-05	3.273e-05	0	0	0	0	0	0	0	0	9.276e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.56456	D	0.378	0.28120	T	0.996	0.68779	D	0.867	0.61644	P	0.038245	0.24307	N	0.404030	1	0.08975	N	2.045	0.56016	M	2.2	0.18875	T	-0.4	0.13805	N	0.051	0.02272	-1.0090	0.27230	T	0.087	0.33830	T	10	0.07023817	0.10191	T	0.007096	0.18814	T	0.092	0.26621	0.185	0.09388	0.151262610727	0.14761	0.2658854872934252	0.26501	0.363869704645	0.38005	0.329218834639	0.14816	T	0.066304	0.32912	T	-0.381056	0.03069	T	-0.548469	0.17472	T	0.131017088890076	0.15476	T	0.851815	0.54540	D	0.13432796	0.31214	0.04645729	0.06480	0.13432796	0.31214	0.04645729	0.06480	-3.316	0.18219	T	0.11588830251526225	0.10419	0.086	0.16800	B	.;.;.	.;.;.	3.276713	0.44877	22.0	0.95812697034290328	0.27888	0.32322	0.24557	N	AEFGBCI	0.075225	0.15099	N	0.0451371775420274	0.43918	2.67555	0.0182462025221623	0.40562	2.422749	0.999996539438399	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	1.196000	0.31807	7.611000	0.61914	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.0:0.8463:0.0:0.1537	9.119	0.35937	704	0.57414	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	926.43	33	chr2	25743927	.	C	G	926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.435;DP=381;ExcessHet=0;FS=4.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-1.656;SOR=0.503	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr2	25749733	25749733	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon9:c.G1043A:p.G348E,ASXL2:NM_001369346:exon10:c.G1649A:p.G550E,ASXL2:NM_018263:exon11:c.G1823A:p.G608E	Shashi-Pena syndrome, Autosomal dominant	427	1093	2	0	0	2	0.000914077	.	.	.	1620283	Inborn_genetic_diseases|not_provided|ASXL2-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.125	0.0209979025413	8.1e-05	0.000399361	0.0003	0	0.0008	0	0	0.0004	0	0	0.0002393	37	154602	rs200842793	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0008	0.0007	0	0.0011	4.565e-05	0	0	0.0015	0.0002	0.0004	4.069e-05	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0011	0.0009	4.815e-05	0	0.0016	0	0	0	0.0034	0.0003	0.0009	0	0.002	0.72154	D	0.844	0.29639	T	0.813	0.57599	P	0.478	0.55268	P	0.088797	0.20462	N	0.551240	0.644416	0.32905	D	2.045	0.56016	M	0.99	0.41750	T	-0.51	0.18670	N	0.336	0.39558	-0.8491	0.52031	T	0.141	0.46016	T	10	0.022847444	0.00581	T	0.020998	0.43698	T	0.125	0.34456	.	.	0.0934897674506	0.08844	0.36358191546992014	0.36272	0.462022161633	0.45735	0.498874366283	0.38671	T	0.175868	0.52560	T	-0.381999	0.03026	T	-0.371932	0.36662	T	0.0732275526110867	0.09098	T	0.888711	0.61924	D	0.16782938	0.37203	0.20793429	0.45073	0.16782938	0.37203	0.20793429	0.45072	-3.662	0.18759	T	0.17587746179103347	0.22413	0.190	0.40810	B	.;.;.	.;.;.	3.399299	0.47106	22.4	0.98892028988450542	0.48019	0.84822	0.43913	D	AEFBI	0.108968	0.21660	N	0.14244361078778	0.48455	3.057532	0.17920969827386	0.48709	3.083	0.845253600631629	0.24941	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	4.27	0.50009	1.001000	0.29384	1.428000	0.26422	0.549000	0.26987	0.993000	0.37899	0.999000	0.35428	0.980000	0.58198	0.1396:0.7263:0.1341:0.0	11.692	0.50785	704	0.57414	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	1950.14	34	chr2	25749733	.	C	T	1950.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.54;DP=460;ExcessHet=0.2348;FS=3.631;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.399;SOR=0.446	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	8	0	2	0
chr2	25750067	25750067	C	T	exonic	ASXL2	.	nonsynonymous SNV	ASXL2:NM_001369347:exon9:c.G709A:p.A237T,ASXL2:NM_001369346:exon10:c.G1315A:p.A439T,ASXL2:NM_018263:exon11:c.G1489A:p.A497T	Shashi-Pena syndrome, Autosomal dominant	425	1062	34	1	0	36	0.0166667	.	.	.	697505	ASXL2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00780264859159	0.0038	0.00139776	0.0038	0.0004	0.0033	0	0.0005	0.0057	0.0067	0.0019	0.0038551	596	154602	rs192716734	0.0045	0.0045	0.0045	0.0046	0.0232	0.0044	0.0044	0.0200	0.0188	0.0011	0.0061	0.0083	0	0.0011	0.0232	0.0049	0.0053	0.0018	0.0042	0.0041	0.0043	0.0040	0.0093	0.0039	0.0038	0.0081	0.0076	0.0010	0.0011	0.0093	0.0115	0	0.0011	0.0476	0.0054	0.0057	0.0010	0.034	0.44358	D	0.376	0.16182	T	0.024	0.19075	B	0.009	0.14300	B	0.021661	0.26787	N	0.445872	0.980241	0.25126	N	2.045	0.56016	M	2.24	0.18248	T	-0.89	0.24026	N	0.106	0.09066	-1.0294	0.20649	T	0.025	0.10688	T	10	0.0029503405	0.00048	T	0.007803	0.20694	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.22718209133153866	0.22633	0.124778172504	0.14054	0.325251996517	0.14216	T	0.060297	0.31349	T	-0.595465	0.00155	T	-0.625647	0.10746	T	0.00537184867181338	0.00058	T	0.70513	0.31558	T	0.040606186	0.05827	0.060843907	0.11654	0.036956888	0.04647	0.06953732	0.14664	-3.332	0.14656	T	0.12593753146672473	0.12621	0.071	0.08705	B	.;.;.	.;.;.	1.725236	0.21960	15.42	0.94025882486374557	0.24136	0.28129	0.23469	N	AEFGBI	0.044503	0.07168	N	-0.613328401915829	0.18542	0.9635463	-0.491562414355824	0.22384	1.215579	0.943501586285711	0.27572	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.01	4.22	0.49153	0.729000	0.25696	0.856000	0.22183	-0.176000	0.10722	0.058000	0.21700	0.999000	0.35428	0.956000	0.50813	0.0:0.8518:0.0:0.1482	11.181	0.47858	704	0.57414	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.025176	0.020202	0.036685	0.032164	0.100000	0.008621	0.015244	0.011364	0.05	1630.43	34	chr2	25750067	.	C	T	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.5;DP=478;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.212;SOR=0.774	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr2	26310072	26310072	C	T	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_153835:exon10:c.G2515A:p.A839T,ADGRF3:NM_001145169:exon12:c.G2905A:p.A969T,ADGRF3:NM_001321971:exon12:c.G2908A:p.A970T,ADGRF3:NM_001145168:exon13:c.G3112A:p.A1038T,ADGRF3:NM_001321975:exon13:c.G1921A:p.A641T	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	7.7e-05	0.00339457	0.0014	9.612e-05	0	0	0	0	0.0033	0.0101	0.0012484	193	154602	rs371242523	0.0006	0.0006	0.0003	0.0009	0.0102	0.0006	0.0006	0.0097	0.0095	0	0	0	0	0	0.0005	4.497e-06	0.0006	0.0102	0.0004	0.0004	0.0002	0.0006	0.0120	0.0003	0.0003	0.0095	0.0086	0	0	0	0	0	0	0.0034	0	0	0.0120	0.841	0.04081	T	1.0	0.01155	T	0.037	0.23728	B	0.021	0.19346	B	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.43672	T	0.36	0.03700	N	0.181	0.19593	-1.0338	0.19236	T	0.035	0.15030	T	9	0.0046133995	0.00096	T	.	.	.	0.088	0.25558	.	.	0.0138822411134	0.00435	0.027274580353201145	0.02677	0.0795081424943	0.08942	0.233527630568	0.02239	T	0.001974	0.01384	T	-0.74447	0.00019	T	-0.832761	0.01214	T	0.0223484822840362	0.00948	T	0.451055	0.13467	T	0.018741146	0.00396	0.04370995	0.05498	0.018741146	0.00396	0.04370995	0.05497	-3.829	0.21238	T	.	.	0.062	0.01859	B	.;.;.	.;.;.	-1.013062	0.00753	0.023	0.619047088175113	0.06826	0.00090	0.00598	N	AEFDBI	0.021585	0.00978	N	-1.78058768847544	0.00594	0.02561184	-1.85622593753423	0.00595	0.02644838	0.999980165823878	0.51787	0.556989	0.30585	1	0.588015	0.36545	0	0.504386	0.09223	2	0.530356	0.10902	0	.	.	5.97	-9.65	0.00450	-1.000000	0.03804	-2.055000	0.04281	-1.682000	0.00784	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2905:0.2012:0.1973:0.311	0.011	0.00001	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1193.43	52	chr2	26310072	.	C	T	1193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=555;ExcessHet=0;FS=3.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.108;SOR=1.054	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,101,1517	9	0	1	0
chr2	26315648	26315648	T	A	exonic	ADGRF3	.	nonsynonymous SNV	ADGRF3:NM_001145169:exon5:c.A589T:p.S197C,ADGRF3:NM_001321971:exon5:c.A592T:p.S198C,ADGRF3:NM_001145168:exon6:c.A796T:p.S266C	.	417	1102	3	0	0	3	0.00135931	.	.	.	4131458	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.0080309282521	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256277092	1.572e-05	1.505e-05	1.974e-05	1.159e-05	0.0004	1.029e-05	8.79e-06	6.2e-05	2.561e-05	0	0	0	0	0	0.0004	1.854e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.53900	D	0.038	0.52060	D	0.913	0.50474	P	0.408	0.44733	B	.	.	.	.	1	0.08975	N	.	.	.	2.7	0.12162	T	-1.37	0.37375	N	0.158	0.16447	-1.0171	0.24657	T	0.021	0.09101	T	9	0.10402852	0.19156	T	0.008031	0.21290	T	0.098	0.28162	0.343	0.33626	0.0401082797425	0.02173	0.26834281822512684	0.26747	0.267909689989	0.29325	0.253593206406	0.04155	T	0.037631	0.24544	T	-0.273979	0.11317	T	-0.631329	0.10314	T	0.360611438751221	0.27433	T	0.538946	0.18179	T	0.103003435	0.24342	0.089127354	0.20825	0.103003435	0.24342	0.089127354	0.20824	-7.092	0.54703	T	.	.	0.183	0.39630	B	.;.	.;.	2.681634	0.34985	19.78	0.97249565217930145	0.33033	0.03163	0.08134	N	AEFDBI	0.130249	0.24873	N	-0.759487728239239	0.14377	0.7156603	-0.892792307033934	0.12264	0.6298488	0.962735826445802	0.28642	0.549168	0.22868	0	0.588066	0.40923	0	0.467745	0.07146	0	0.616125	0.45549	0	.	.	5.35	-1.52	0.08181	-0.159000	0.10043	0.387000	0.17845	-0.157000	0.11712	0.002000	0.15269	0.126000	0.22952	0.255000	0.23391	0.0:0.2453:0.287:0.4676	4.758	0.12465	445	0.79730	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1050.43	63	chr2	26315648	.	T	A	1050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.107;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.67;ReadPosRankSum=-1.431;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1352	9	0	1	0
chr2	26440481	26440481	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon8:c.C992T:p.T331I	Ciliary dyskinesia, primary, 21, Autosomal recessive	431	1069	21	1	0	23	0.0106432	.	.	.	392850	Primary_ciliary_dyskinesia_21|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0014123,MedGen:C3809087,OMIM:615294,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.135	.	0.0088	0.0071885	0.0056	0.0193	0.0068	0	0.0003	0.0034	0.0044	0.0100	0.0051293	793	154602	rs143181834	0.0039	0.0039	0.0037	0.0040	0.0196	0.0038	0.0037	0.0184	0.0179	0.0196	0.0039	0.0096	0	0.0007	0.0087	0.0029	0.0047	0.0104	0.0074	0.0074	0.0077	0.0071	0.0191	0.0070	0.0069	0.0180	0.0175	0.0191	0	0.0024	0.0078	0	0.0004	0.0034	0.0032	0.0052	0.0070	0.008	0.58626	D	0.092	0.39954	T	1.0	0.90584	D	0.999	0.92359	D	0.019098	0.27335	N	0.434279	0.53729	0.31441	N	3.11	0.87757	M	2.35	0.16217	T	-4.22	0.75854	D	0.272	0.30800	-0.8284	0.53403	T	0.067	0.27640	T	10	0.0047012568	0.00099	T	.	.	.	0.135	0.36572	.	.	0.345859378078	0.34197	0.2995200133479883	0.29865	0.143505027535	0.16199	0.650931835175	0.60118	T	0.04849	0.28032	T	-0.525459	0.00409	T	-0.511966	0.21112	T	0.021392734080505	0.00842	T	0.762724	0.38847	T	0.15863673	0.35679	0.21951956	0.46694	0.15863673	0.35679	0.21951956	0.46693	-9.181	0.68855	D	.	.	0.204	0.42934	B	.	.	3.625471	0.51325	23.1	0.99905336106589349	0.97651	0.81857	0.41179	D	AEFI	0.401446	0.47593	N	0.560431400868571	0.70720	5.543083	0.475017264697382	0.66338	4.939222	0.999440158746165	0.39736	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.17	4.29	0.50359	2.943000	0.48719	2.683000	0.34031	0.599000	0.40250	0.994000	0.38300	0.993000	0.31925	0.941000	0.48210	0.0:0.9204:0.0:0.0796	13.104	0.58650	418	0.81602	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.015152	0.006793	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2154.43	42	chr2	26440481	.	C	T	2154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.19;DP=594;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.903;SOR=0.715	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1518	9	0	1	0
chr2	26454684	26454684	C	T	exonic	DRC1	.	nonsynonymous SNV	DRC1:NM_145038:exon15:c.C1957T:p.R653C	Ciliary dyskinesia, primary, 21, Autosomal recessive	422	1088	11	1	0	13	0.00593878	.	.	.	686174	Inborn_genetic_diseases|Primary_ciliary_dyskinesia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0133825133334	.	.	0.0005	9.614e-05	0.0003	0	0.0002	7.497e-05	0.0022	0.0028	0.0003881	60	154602	rs139106371	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	8.944e-05	0	7.557e-05	7.489e-05	0.0016	4.766e-05	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0008	0.0006	2.408e-05	0	0.0004	0	0	0	0	8.823e-05	0	0.0017	0.014	0.53172	D	0.001	0.83351	D	1.0	0.90584	D	0.911	0.64720	D	0.009340	0.30410	N	0.322809	0.999917	0.19599	N	2.485	0.72352	M	2.1	0.19990	T	-5.28	0.84246	D	0.339	0.38027	-1.0215	0.23227	T	0.114	0.40672	T	10	0.020758808	0.00484	T	0.013383	0.32738	T	0.058	0.16647	0.567	0.68901	0.253205268125	0.24938	0.36535253999707445	0.36449	0.119650521778	0.13479	0.320220708847	0.13455	T	0.069858	0.33814	T	-0.478787	0.00752	T	-0.464512	0.26109	T	0.0857806656965326	0.10709	T	0.666133	0.27528	T	0.10670609	0.25230	0.13347591	0.32006	0.09847987	0.23229	0.10094992	0.24151	-6.006	0.46330	T	.	.	0.191	0.40968	B	.	.	2.494027	0.32184	18.97	0.99434719438662533	0.64472	0.21337	0.21366	N	AEFBI	0.171622	0.29860	N	-0.293906595048252	0.29384	1.628939	-0.513926226274047	0.21774	1.179546	0.995272016818871	0.34040	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.15	2.31	0.27816	0.423000	0.21032	1.629000	0.27729	-1.642000	0.00838	0.097000	0.22731	0.151000	0.23179	0.000000	0.00833	0.1383:0.7107:0.0:0.1509	7.164	0.24855	416	0.81733	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1121.43	34	chr2	26454684	.	C	T	1121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.245;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.305;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1185	9	0	1	0
chr2	26477448	26477448	G	A	exonic	OTOF	.	nonsynonymous SNV	OTOF:NM_194322:exon2:c.C304T:p.R102W,OTOF:NM_004802:exon3:c.C133T:p.R45W,OTOF:NM_194323:exon3:c.C133T:p.R45W,OTOF:NM_001287489:exon20:c.C2374T:p.R792W,OTOF:NM_194248:exon20:c.C2374T:p.R792W	Auditory neuropathy, autosomal recessive, 1, Autosomal recessive;Deafness, autosomal recessive 9, Autosomal recessive	2	1515	4	1	0	6	0.00197628	.	.	YES	173514	not_provided|OTOF-related_disorder|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_9	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0010986,MedGen:C1832828,OMIM:601071,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.575	0.171682035135	0.0009	0.000998403	0.0016	0.0006	0.0019	0	0.0044	0.0023	0.0026	9.978e-05	0.0008344	129	154602	rs148532589	0.0010	0.0010	0.0010	0.0011	0.0054	0.0010	0.0010	0.0039	0.0034	6.004e-05	0.0008	3.873e-05	0.0003	0.0021	0.0054	0.0011	0.0009	0.0003	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0011	0.0010	0.0002	0.0011	0.0016	0.0003	0.0004	0.0014	0.0068	0.0013	0.0009	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.88	0.69275	P	0.000005	0.62929	D	0.059215	0.99995	0.52396	D	2.62	0.76659	M	-1.35	0.82165	T	-5.93	0.90254	D	0.838	0.95841	0.347	0.88289	D	0.650	0.87808	D	10	0.055429548	0.06057	T	0.171682	0.84888	D	0.575	0.82799	.	.	0.932794848971	0.93210	0.5238347411966803	0.52307	0.550788785342	0.51939	0.755890488625	0.75318	T	0.66333	0.89923	D	0.00484782	0.52320	T	0.220957	0.84220	D	0.0741519936977367	0.09222	T	0.979335	0.94010	D	0.73637146	0.80085	0.6075071	0.77177	0.73637146	0.80087	0.6075071	0.77178	-6.926	0.67142	T	0.7028354545097377	0.78203	0.342	0.59755	A	.;.;.;.;.;.	.;.;.;.;.;.	4.653384	0.74205	26.1	0.99915000433366108	0.98309	0.86422	0.45699	D	AEFDBI	0.785613	0.71594	D	0.267606188380337	0.54514	3.616834	0.165972568098358	0.47996	3.021518	0.999948484167828	0.47345	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.65	0.063	0.13661	0.958000	0.28825	4.525000	0.43702	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.3719:0.6281	13.943	0.63575	423	0.81269	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003036	0.000000	0.002732	0.008982	0.000000	0.017241	0.000000	0.000000	0.05	873.43	33	chr2	26477448	.	G	A	873.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.517;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.283;SOR=0.584	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	9	0	1	0
chr2	26577569	26577569	A	G	exonic	FAM166C	.	nonsynonymous SNV	FAM166C:NM_001322426:exon4:c.A364G:p.S122G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.0092	0.0101837	0.0029	0.0344	0.0010	0	0	2.999e-05	0.0011	6.056e-05	0.0027878	431	154602	rs61742391	0.0009	0.0009	0.0010	0.0008	0.0313	0.0008	0.0008	0.0297	0.0291	0.0313	0.0014	0	0	0	0.0024	2.608e-05	0.0023	5.797e-05	0.0090	0.0090	0.0091	0.0089	0.0320	0.0086	0.0085	0.0306	0.0300	0.0320	0	0.0015	0	0	0	0	0.0001	0.0057	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.971882	0.38904	D	.	.	.	.	.	.	-4.0	0.74051	D	0.081	0.05670	-0.9931	0.31801	T	0.026	0.11264	T	5	0.0027613044	0.00043	T	.	.	.	0.085	0.24743	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.753614	0.00017	T	-0.829529	0.01270	T	0.0157559142619739	0.00366	T	0.371363	0.08780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.34906	B	.	.	0.063622	0.04739	1.366	0.58596674869715337	0.06029	0.01954	0.05935	N	AEFDGBCI	0.016344	0.00362	N	-0.848447273420087	0.12088	0.5871265	-1.01249763159099	0.09510	0.4735474	0.999945610733367	0.47345	0.533608	0.22052	0	0.615948	0.52940	0	0.616487	0.41570	0	0.638833	0.57524	0	.	.	5.27	-2.48	0.06052	-0.016000	0.12550	-1.274000	0.05845	-1.663000	0.00811	0.050000	0.21411	0.000000	0.08366	0.003000	0.05239	0.2363:0.3009:0.3348:0.128	1.736	0.02766	409	0.82198	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.013587	0.017544	0.000000	0.000000	0.003049	0.000000	0.05	2306.43	40	chr2	26577569	.	A	G	2306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.995;DP=550;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.144;SOR=0.668	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr2	26727806	26727806	C	A	exonic	KCNK3	.	nonsynonymous SNV	KCNK3:NM_002246:exon2:c.C423A:p.H141Q	Pulmonary hypertension, primary, 4, Autosomal dominant	27	1484	11	0	0	11	0.00369251	.	.	.	450788	not_provided|Pulmonary_hypertension,_primary,_4|KCNK3-related_disorder	MedGen:C3661900|MONDO:MONDO:0014136,MedGen:C3809198,OMIM:615344,Orphanet:422|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0093624954756	0.0007	0.000599042	0.0006	0.0003	0.0011	0	0	0.0009	0.0011	7.12e-05	0.0005175	80	154602	rs151228365	0.0008	0.0008	0.0008	0.0007	0.0064	0.0007	0.0007	0.0048	0.0042	0.0002	0.0015	0.0062	2.523e-05	0	0.0064	0.0007	0.0014	4.651e-05	0.0010	0.0010	0.0008	0.0012	0.0051	0.0008	0.0008	0.0042	0.0038	0.0002	0	0.0051	0.0055	0	0	0.0102	0.0005	0.0028	0.0002	0.223	0.18757	T	0.285	0.21343	T	0.04	0.21238	B	0.017	0.18140	B	0.000000	0.84330	N	0.051388	0.998403	0.44873	D	1.735	0.44892	L	1.91	0.23283	T	-1.53	0.37178	N	0.486	0.52029	-1.1052	0.03517	T	0.059	0.24908	T	10	0.011818379	0.00257	T	0.009362	0.24553	T	0.059	0.16972	0.361	0.36548	0.405012372841	0.40113	0.9278199078095344	0.92759	.	.	0.592059731483	0.51785	T	0.296454	0.78990	T	-0.463711	0.00932	T	-0.45788	0.26830	T	0.0403551168122422	0.03754	T	0.59464	0.23867	T	0.58008647	0.71613	0.47263727	0.69429	0.61283845	0.73381	0.5521105	0.74101	-7.062	0.54486	T	0.2099782536906127	0.28122	0.190	0.40762	B	.;.	.;.	3.006292	0.40184	21.1	0.94619292397259591	0.25195	0.86678	0.46010	D	AEFDBCI	0.698283	0.65601	D	-0.129095625560849	0.36129	2.084243	0.0173914898049412	0.40522	2.419732	0.99999999978881	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.578056	0.29568	0	0.530356	0.10902	0	.	.	5.27	4.38	0.52019	2.661000	0.46423	1.792000	0.28808	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.161:0.839:0.0:0.0	13.184	0.59096	642	0.63909	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.012228	0.008772	0.050000	0.008621	0.003049	0.000000	0.05	1815.43	34	chr2	26727806	.	C	A	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.559;DP=446;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.194;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	9	0	1	0
chr2	27364573	27364573	G	A	exonic	EIF2B4	.	nonsynonymous SNV	EIF2B4:NM_001318965:exon12:c.C1462T:p.R488W,EIF2B4:NM_001318968:exon12:c.C814T:p.R272W,EIF2B4:NM_172195:exon12:c.C1459T:p.R487W,EIF2B4:NM_001034116:exon13:c.C1399T:p.R467W,EIF2B4:NM_001318966:exon13:c.C1354T:p.R452W,EIF2B4:NM_001318967:exon13:c.C1306T:p.R436W,EIF2B4:NM_001318969:exon13:c.C781T:p.R261W,EIF2B4:NM_015636:exon13:c.C1396T:p.R466W	Leukoencephaly with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	271696	Leukoencephalopathy_with_vanishing_white_matter_4|not_provided|Vanishing_white_matter_disease	MONDO:MONDO:0957872,MedGen:C5830406,OMIM:620314|MedGen:C3661900|MONDO:MONDO:0800448,MedGen:C1858991,OMIM:PS603896,Orphanet:135,Orphanet:99853	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.840	0.393907724022	7.7e-05	.	2.471e-05	9.612e-05	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs138249238	3.147e-05	3.147e-05	3.947e-05	2.338e-05	2.878e-05	2.412e-05	2.157e-05	2.082e-05	1.782e-05	0	0	0	0	0.0002	0	2.878e-05	8.279e-05	0	3.944e-05	3.94e-05	2.57e-05	5.382e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0	0	0.01	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	-3.09	0.92613	D	-3.92	0.73151	D	0.757	0.85766	0.926	0.96039	D	0.870	0.95674	D	10	0.9064431	0.90009	D	0.393908	0.93249	D	0.840	0.94989	.	.	0.93300369908	0.93231	0.8080112056559952	0.80756	0.927717698686	0.71705	0.56323492527	0.47724	T	0.06959	0.90063	T	0.318639	0.84374	D	0.401454	0.92161	D	0.913488507270813	0.56977	D	0.957704	0.84069	D	0.3363513	0.55987	0.29249954	0.55277	0.34061995	0.56329	0.3474352	0.60397	-9.68	0.71974	D	.	.	0.098	0.24123	B	.;.;.;.;.	.;.;.;.;.	4.883713	0.80116	27.3	0.99900498545706573	0.97275	0.95625	0.65473	D	AEFBHCI	0.665909	0.63456	D	0.507178151025696	0.67512	5.091707	0.384674933891336	0.60621	4.251573	0.99999173209715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	4.2	0.48814	3.158000	0.50422	7.399000	0.58563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.522000	0.29520	0.0:0.0:0.8348:0.1652	13.800	0.62682	321	0.86949	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5503.12	35	chr2	27364573	.	G	A	5503.12	.	AC=2;AF=0.1;AN=20;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.63;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	1	0	0
chr2	27443518	27443518	G	A	exonic	KRTCAP3	.	nonsynonymous SNV	KRTCAP3:NM_001168364:exon5:c.G601A:p.G201R,KRTCAP3:NM_001321325:exon5:c.G601A:p.G201R,KRTCAP3:NM_173853:exon5:c.G601A:p.G201R	.	424	1078	19	1	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0002	0.00319489	0.0023	0	0.0003	0.0001	0	0.0002	0.0022	0.0158	0.0019599	303	154602	rs140860919	0.0010	0.0010	0.0006	0.0015	0.0156	0.0010	0.0010	0.0149	0.0146	5.974e-05	2.236e-05	0	5.038e-05	0	0.0014	8.813e-05	0.0008	0.0156	0.0006	0.0006	0.0003	0.0009	0.0168	0.0005	0.0005	0.0139	0.0128	2.407e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0168	0.561	0.53900	T	0.823	0.45530	T	0.904	0.49848	P	0.267	0.39770	B	0.039479	0.24167	N	0.479309	0.869188	0.37177	D	0.345	0.11182	N	1.04	0.40218	T	0.0	0.90608	N	0.303	0.34228	-1.0207	0.23486	T	0.078	0.31133	T	10	0.0041401386	0.00082	T	.	.	.	0.107	0.30369	0.354	0.35408	0.441636318388	0.43783	0.4181076378756659	0.41726	0.171605658539	0.19324	0.461895823479	0.33571	T	0.007087	0.40791	T	-0.389414	0.02714	T	-0.319169	0.42666	T	0.0249702177853107	0.01269	T	0.705929	0.32487	T	0.13634725	0.31611	0.08662678	0.20084	0.13634725	0.31611	0.08662678	0.20083	-3.204	0.12530	T	.	.	0.089	0.23848	B	.;.;.;.	.;.;.;.	3.575398	0.50375	22.9	0.99734813014918078	0.83047	0.94046	0.59950	D	AEFDBCI	0.647266	0.62250	D	0.16364946476459	0.49460	3.146148	0.27384074030667	0.54015	3.568054	0.999999893844659	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.636168	0.56350	0	.	.	5.83	5.83	0.93059	3.570000	0.53578	5.863000	0.50453	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	17.600	0.87923	63	0.97314	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	1582.43	37	chr2	27443518	.	G	A	1582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=450;ExcessHet=0;FS=0.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.275;SOR=0.517	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1336	9	0	1	0
chr2	27472341	27472341	T	A	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon15:c.A1433T:p.N478I	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	431	1073	18	0	0	18	0.00831793	.	.	.	655441	not_provided|IFT172-related_disorder|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:C3661900|.|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	.	0.0008	0.00219649	0.0025	0.0004	0.0002	0.0001	0.0008	0.0015	0.0077	0.0115	0.0022898	354	154602	rs143491198	0.0016	0.0016	0.0013	0.0019	0.0120	0.0016	0.0016	0.0114	0.0111	0.0001	0.0002	0.0007	7.557e-05	0.0005	0.0017	0.0011	0.0013	0.0120	0.0009	0.0009	0.0008	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0001	0	0.0001	0.0009	0	0.0002	0	0.0010	0.0009	0.0104	0.1	0.30515	T	0.106	0.37872	T	0.009	0.15093	B	0.006	0.12133	B	0.000000	0.84330	D	0.042417	0.998953	0.45755	D	1.155	0.29575	L	1.92	0.23082	T	-2.71	0.57762	D	0.858	0.85449	-1.0993	0.04177	T	0.044	0.18783	T	10	0.006679505	0.00151	T	.	.	.	0.172	0.43662	.	.	0.29527378943	0.29149	0.5422393569389612	0.54148	0.231291284145	0.25673	0.467749267817	0.34371	T	0.529917	0.83714	D	-0.402207	0.02239	T	-0.340131	0.40331	T	0.0335657611873292	0.02564	T	0.883212	0.60517	D	0.33794796	0.56115	0.24419864	0.49881	0.38292283	0.59528	0.20657907	0.44877	-7.117	0.58701	T	0.2225428325644516	0.30030	0.134	0.37633	B	.;.;.	.;.;.	3.065820	0.41192	21.3	0.96809773651058384	0.31184	0.99143	0.91861	D	AEFDBI	0.575185	0.57768	D	-0.115689624455432	0.36710	2.125554	0.0693025319933335	0.43015	2.612065	0.981649734856931	0.30291	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.69	4.54	0.55220	5.606000	0.67324	6.103000	0.53575	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.1581:0.0:0.8419	8.490	0.32255	72	0.96948	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.015152	0.05	1013.43	40	chr2	27472341	.	T	A	1013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.334;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=1.39;SOR=0.647	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1224	9	0	1	0
chr2	27685053	27685053	G	A	exonic	SLC4A1AP	.	nonsynonymous SNV	SLC4A1AP:NM_018158:exon10:c.G1892A:p.R631H	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0560288432549	0.0013	0.00119808	0.0006	0.0049	0.0015	0	0	6.022e-05	0	0.0001	0.0005433	84	154602	rs139206651	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0.0045	0.0012	0	0	0	0.0019	1.891e-05	0.0005	5.868e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0012	0.0011	0.0038	0.0036	0.0043	0	0.0009	0	0	0	0.0034	4.411e-05	0.0019	0.0002	0.009	0.57480	D	0.032	0.54159	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.39	0.33842	T	-1.85	0.43334	N	0.378	0.41952	-0.7170	0.59610	T	0.167	0.50583	T	10	0.00754714	0.00171	T	0.056029	0.66455	D	0.091	0.26358	.	.	0.47290127212	0.46918	0.2811221591836288	0.28025	1.03848036312	0.75702	0.71020925045	0.68625	T	0.12793	0.45526	T	-0.379135	0.03155	T	-0.316974	0.42906	T	0.0291245443825977	0.01856	T	0.958704	0.84427	D	0.1877438	0.40243	0.14868133	0.35137	0.1877438	0.40242	0.14868133	0.35136	-9.883	0.73208	D	.	.	0.122	0.37876	B	.;.;.	.;.;.	5.302952	0.89027	29.8	0.99916050777458265	0.98379	0.97125	0.72835	D	AEFGBI	0.682383	0.64541	D	0.647676976488637	0.76219	6.446127	0.602254089118336	0.75104	6.25177	0.999999636859536	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.38	4.5	0.54382	4.897000	0.62918	8.461000	0.77245	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0709:0.0:0.9291:0.0	14.589	0.67946	45	0.97767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001068	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2078.43	36	chr2	27685053	.	G	A	2078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.23;MQRankSum=-1.869;QD=13.67;ReadPosRankSum=1.16;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1077	9	0	1	0
chr2	28539119	28539119	C	A	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon11:c.C672A:p.N224K,PLB1:NM_153021:exon11:c.C639A:p.N213K	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0268913967088	.	0.00159744	0.0008	0	8.645e-05	0	0	0	0	0.0056	0.0006792	105	154602	rs201950380	0.0004	0.0004	0.0002	0.0005	0.0061	0.0004	0.0003	0.0057	0.0055	2.987e-05	0	0	0	0	0	1.799e-06	0.0004	0.0061	0.0002	0.0002	0.0001	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	2.406e-05	0	0	0	0	0	0	0	0	0.0072	0.0	0.91255	D	0.0	0.92824	D	0.999	0.90584	D	0.972	0.92359	D	0.000044	0.53742	D	0.123571	0.857681	0.28403	N	3.31	0.90591	M	1.32	0.35219	T	-5.83	0.88361	D	0.808	0.80375	-0.3204	0.74410	T	0.389	0.74335	T	10	0.012284219	0.00265	T	0.026891	0.49757	D	0.289	0.60808	0.695	0.83219	0.28798054836	0.28402	0.6930204789328924	0.69242	0.157749596145	0.17814	0.611724495888	0.54559	T	0.10685	0.41854	T	-0.379839	0.03123	T	-0.315916	0.43021	T	0.289925636235644	0.24586	T	0.764923	0.42944	T	0.57153183	0.71145	0.4449027	0.67656	0.57153183	0.71146	0.4449027	0.67656	-11.117	0.80296	D	.	.	0.975	0.91282	P	.;.;.	.;.;.	3.694145	0.52654	23.3	0.99745633978114878	0.83852	0.98530	0.83766	D	AEFDBHCI	0.311580	0.41727	N	0.205292764326764	0.51454	3.326612	0.17865965581313	0.48679	3.080605	0.998614306679977	0.37309	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.7	2.43	0.28797	1.256000	0.32524	1.214000	0.24928	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:0.6856:0.0:0.3144	7.735	0.27975	612	0.66786	.;Phospholipase B;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2068.43	36	chr2	28539119	.	C	A	2068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.446;DP=479;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=0.758;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1292:.	9	0	1	0
chr2	28602857	28602857	A	T	exonic	PLB1	.	nonsynonymous SNV	PLB1:NM_001170585:exon38:c.A2677T:p.N893Y,PLB1:NM_153021:exon39:c.A2710T:p.N904Y	.	421	1068	33	0	0	33	0.0152144	.	.	.	708220	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.194	.	0.0076	0.00419329	0.0075	0.0019	0.0038	0.0001	0.0039	0.0119	0.0044	0.0010	0.0077037	1191	154602	rs62131028	0.0095	0.0095	0.0095	0.0094	0.0196	0.0093	0.0093	0.0167	0.0156	0.0017	0.0065	0.0031	0	0.0047	0.0196	0.0113	0.0072	0.0008	0.0079	0.0079	0.0087	0.0070	0.0128	0.0075	0.0073	0.0121	0.0118	0.0018	0.0636	0.0074	0.0023	0	0.0032	0.0238	0.0128	0.0114	0.0010	0.014	0.53172	D	0.066	0.46862	T	0.996	0.68779	D	0.942	0.68276	D	0.690535	0.10180	N	0.876510	0.994618	0.42349	D	2.055	0.56616	M	1.97	0.22067	T	-3.24	0.65171	D	0.507	0.54757	-0.9338	0.43575	T	0.146	0.47111	T	10	0.011125952	0.00244	T	.	.	.	0.194	0.47447	.	.	0.28722502521	0.28325	0.507021051752842	0.50624	0.266147058046	0.29158	0.373483419418	0.21330	T	0.014682	0.12455	T	-0.463152	0.00939	T	-0.427031	0.30272	T	0.0316246991587704	0.02246	T	0.523348	0.17107	T	0.18547012	0.39911	0.20416965	0.44528	0.18547012	0.39911	0.20416965	0.44527	-5.518	0.43756	T	.	.	0.166	0.36515	B	.;.	.;.	2.384660	0.30617	18.49	0.98833238558356562	0.46985	0.41386	0.26646	N	AEFGBCI	0.144894	0.26797	N	-0.485391068914976	0.22559	1.20541	-0.554305337579765	0.20692	1.115963	0.999901859361026	0.45458	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	6.07	0.242	0.14759	2.239000	0.42728	3.441000	0.38381	-0.137000	0.12594	1.000000	0.71638	0.998000	0.33993	0.089000	0.17737	0.4886:0.0:0.5114:0.0	11.107	0.47431	759	0.50631	GDSL lipase/esterase|Phospholipase B;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.015152	0.021739	0.008772	0.000000	0.034483	0.006098	0.003788	0.05	1797.43	130	chr2	28602857	.	A	T	1797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.922;SOR=0.677	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr2	29070955	29070955	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3307G:p.R1103G	.	0	1520	2	0	0	2	0.000657462	.	.	.	884654	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.00843649577828	0.0002	0.000199681	0.0002	0	0	0	0	6.105e-05	0	0.0010	0.0001358	21	154602	rs375443061	7.457e-05	7.525e-05	4.357e-05	0.0001	0.0009	6.316e-05	5.874e-05	0.0008	0.0007	0	4.472e-05	0	2.519e-05	0	0.0005	1.709e-05	6.623e-05	0.0009	3.299e-05	3.285e-05	2.581e-05	4.049e-05	0.0006	1.265e-05	8.01e-06	0.0002	9.093e-05	0	0	0	0	0	0	0	2.946e-05	0	0.0006	0.283	0.15354	T	0.435	0.13518	T	0.125	0.26866	B	0.039	0.23607	B	0.174443	0.17279	N	0.585904	1	0.08975	N	.	.	.	2.09	0.20122	T	-1.4	0.34596	N	0.068	0.04072	-1.0236	0.22541	T	0.031	0.13242	T	10	0.014190376	0.00299	T	0.008436	0.22332	T	0.029	0.06676	.	.	0.202949470691	0.19918	0.0918954900771021	0.09122	0.013806529044	0.01320	.	.	.	0.006609	0.06037	T	-0.637126	0.00087	T	-0.752718	0.03381	T	0.0104275821443778	0.00143	T	0.413759	0.10783	T	0.061695296	0.12805	0.050455235	0.07922	0.062107082	0.12934	0.041946378	0.04884	-3.316	0.13945	T	.	.	0.069	0.03162	B	.	.	0.878960	0.12522	9.051	0.89386227866344115	0.18752	0.30761	0.24165	N	AEFDBI	0.185858	0.31318	N	-0.895985071674855	0.10937	0.5252085	-0.928013551089352	0.11435	0.5824985	0.122246644503087	0.16909	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	0.166	0.14287	0.100000	0.15067	-0.869000	0.07110	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.561000	0.30436	0.0:0.1948:0.2348:0.5704	5.864	0.18011	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	7454.43	34	chr2	29070955	.	T	C	7454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.333;DP=1040;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=1.06;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	9	0	1	0
chr2	29071203	29071203	T	C	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.A3059G:p.Q1020R	.	0	1503	19	0	0	19	0.00628099	.	.	.	190300	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00279553	0.0086	0.0024	0.0024	0	0.0121	0.0128	0.0074	0.0010	0.0068757	1063	154602	rs200367963	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0018	0.0029	0.0169	0	0.0115	0.0056	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0089	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.117	0.28271	T	0.323	0.18959	T	0.063	0.23376	B	0.018	0.18489	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.01	0.21291	T	-3.06	0.63090	D	0.084	0.06059	-0.9912	0.32295	T	0.041	0.17700	T	10	0.0048058033	0.00102	T	.	.	.	0.026	0.05648	.	.	0.249502417897	0.24576	0.21886280284673723	0.21802	0.0140011853721	0.01334	.	.	.	0.019667	0.15628	T	-0.567802	0.00228	T	-0.57899	0.14634	T	0.00539879757628147	0.00059	T	0.376562	0.08996	T	0.16208237	0.36261	0.17164351	0.39362	0.1437882	0.33031	0.17164351	0.39361	-3.378	0.14762	T	.	.	0.103	0.18539	B	.	.	1.436758	0.18559	13.80	0.98913200757516251	0.48418	0.42764	0.26950	N	AEFDBI	0.121755	0.23657	N	-0.644156492515505	0.17630	0.9088619	-0.611557115836324	0.19196	1.028853	0.109324984171799	0.16604	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	1.51	0.22094	0.539000	0.22885	0.395000	0.17934	0.609000	0.47794	0.152000	0.23684	0.953000	0.29079	0.385000	0.26447	0.1293:0.2894:0.0:0.5813	5.306	0.15116	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071203	.	T	C	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.883;DP=802;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.98;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1184:.	8	1	1	0
chr2	29071204	29071204	G	T	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C3058A:p.Q1020K	.	0	1507	15	0	0	15	0.00495213	.	.	.	190299	Retinitis_pigmentosa|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	.	.	0.00279553	0.0085	0.0024	0.0024	0	0.0121	0.0127	0.0074	0.0010	0.0068693	1062	154602	rs201355503	0.0087	0.0087	0.0089	0.0085	0.0098	0.0086	0.0085	0.0097	0.0096	0.0017	0.0029	0.0169	0	0.0115	0.0053	0.0098	0.0074	0.0009	0.0063	0.0063	0.0066	0.0059	0.0097	0.0059	0.0058	0.0091	0.0088	0.0014	0	0.0043	0.0179	0	0.0085	0	0.0097	0.0071	0.0006	0.148	0.24857	T	0.356	0.17166	T	0.454	0.36182	P	0.09	0.29851	B	0.559511	0.11351	N	0.796203	1	0.08975	N	.	.	.	2.0	0.21473	T	-3.06	0.63090	D	0.25	0.28264	-1.0517	0.13926	T	0.051	0.21611	T	10	0.0063916743	0.00145	T	.	.	.	0.105	0.29889	.	.	0.393316636838	0.38940	0.2500554077571631	0.24919	0.0237916299832	0.02408	.	.	.	0.034351	0.23286	T	-0.541652	0.00328	T	-0.541427	0.18156	T	0.0217380883788979	0.00880	T	0.458954	0.13262	T	0.35774997	0.57664	0.20621154	0.44825	0.30511588	0.53360	0.20621154	0.44824	-3.734	0.19821	T	.	.	0.123	0.25689	B	.	.	3.092638	0.41652	21.4	0.98464053864446577	0.41780	0.67894	0.33599	D	AEFDBI	0.114024	0.22475	N	-0.131883062482818	0.36009	2.075708	-0.0888338562462418	0.35850	2.079073	0.590696172868296	0.21644	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.29	4.38	0.52019	2.585000	0.45776	8.340000	0.76993	0.526000	0.24426	0.441000	0.26495	1.000000	0.68203	0.475000	0.28453	0.0:0.1335:0.728:0.1385	11.656	0.50578	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006552	0.005051	0.000000	0.000000	0.050000	0.000000	0.030488	0.007576	0.15	12536.4	34	chr2	29071204	.	G	T	12536.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.082;DP=800;ExcessHet=0;FS=3.241;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=32.14;ReadPosRankSum=1.86;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1184:.	8	1	1	0
chr2	29071662	29071662	G	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.C2600T:p.P867L	.	0	1485	36	1	0	38	0.012633	.	.	.	177344	PCARE-related_disorder|not_provided|not_specified|Retinitis_pigmentosa_54|Retinitis_pigmentosa	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013263,MedGen:C3150691,OMIM:613428,Orphanet:791|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.029	0.0036451874102	0.0018	0.000998403	0.0015	0.0004	0.0017	0	0.0017	0.0021	0.0034	0.0005	0.0015071	233	154602	rs182248363	0.0022	0.0022	0.0021	0.0022	0.0215	0.0021	0.0021	0.0184	0.0173	0.0007	0.0031	0.0030	0	0.0021	0.0215	0.0022	0.0034	0.0009	0.0019	0.0019	0.0019	0.0019	0.0054	0.0017	0.0017	0.0044	0.0041	0.0005	0	0.0054	0.0032	0	0.0013	0.0272	0.0021	0.0033	0.0008	1.0	0.00964	T	0.425	0.13912	T	0.004	0.12183	B	0.001	0.04355	B	0.392844	0.13231	N	0.685825	1	0.08975	N	.	.	.	2.61	0.13095	T	3.05	0.00134	N	0.097	0.07811	-0.9297	0.44183	T	0.010	0.03492	T	10	0.003376186	0.00059	T	0.003645	0.08371	T	0.029	0.06676	.	.	0.0716867268079	0.06686	0.04218015526180348	0.04163	0.0132068873467	0.01271	.	.	.	0.005117	0.04559	T	-0.733535	0.00023	T	-0.83044	0.01254	T	0.00110661854475679	0.00011	T	0.493751	0.15260	T	0.015144684	0.00124	0.027302949	0.00874	0.015144684	0.00124	0.027302949	0.00874	-3.959	0.23188	T	.	.	0.064	0.01645	B	.	.	-0.137698	0.03423	0.624	0.33965375538205167	0.02052	0.01676	0.05356	N	AEFDBI	0.034659	0.04332	N	-1.40349762555176	0.02608	0.1153987	-1.34441941115392	0.03872	0.1815065	0.0925815948388823	0.16162	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.54	-0.756	0.10500	1.406000	0.34254	-1.083000	0.06383	-0.169000	0.11342	0.027000	0.20232	0.000000	0.08366	0.002000	0.04165	0.3388:0.0:0.1847:0.4764	4.835	0.12825	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022659	0.020202	0.019022	0.043860	0.050000	0.043103	0.003049	0.007576	0.05	4819.43	341	chr2	29071662	.	G	A	4819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.61;DP=811;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.378;SOR=0.602	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	29073489	29073489	C	A	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.G773T:p.R258I	.	0	1521	1	0	0	1	0.000328623	.	.	.	708224	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0094	0.0091853	0.0030	0.0328	0.0016	0	0	0.0002	0	0.0002	0.0027943	432	154602	rs116156338	0.0010	0.0010	0.0011	0.0009	0.0333	0.0010	0.0010	0.0317	0.0310	0.0333	0.0020	0.0024	0	0	0.0024	3.507e-05	0.0028	0.0001	0.0096	0.0096	0.0101	0.0090	0.0320	0.0091	0.0090	0.0306	0.0300	0.0320	0	0.0067	0.0017	0	0	0	4.409e-05	0.0057	0	0.085	0.32769	T	0.031	0.53788	D	0.006	0.13644	B	0.014	0.16862	B	0.059592	0.22312	N	0.501897	1	0.08975	N	.	.	.	2.24	0.17923	T	-2.19	0.49352	N	0.175	0.18784	-1.0395	0.17465	T	0.008	0.02638	T	10	0.0021783113	0.00031	T	.	.	.	0.034	0.08419	.	.	0.288727942641	0.28479	0.10284227816646828	0.10214	0.0296390397092	0.03046	.	.	.	0.033295	0.22852	T	-0.685675	0.00044	T	-0.734016	0.04147	T	0.0117558017010024	0.00181	T	0.768423	0.39759	T	0.1142053	0.26963	0.13647205	0.32647	0.1142053	0.26963	0.13647205	0.32646	-5.204	0.38982	T	.	.	0.122	0.25495	B	.	.	2.030677	0.25809	16.90	0.96083711974444497	0.28662	0.08641	0.14542	N	AEFDGBI	0.100552	0.20216	N	-0.673291225816871	0.16784	0.8582266	-0.620104758550294	0.18977	1.016157	0.622583626121594	0.21898	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	3.58	0.40133	0.786000	0.26505	1.389000	0.26100	0.599000	0.40250	0.003000	0.16062	0.673000	0.26078	0.012000	0.09680	0.0:0.7561:0.0:0.2439	11.117	0.47488	449	0.79428	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.005435	0.011696	0.000000	0.000000	0.003049	0.003788	0.05	4109.43	47	chr2	29073489	.	C	A	4109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.099;DP=1323;ExcessHet=0;FS=0.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.171;SOR=0.662	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	29073522	29073522	A	G	exonic	PCARE	.	nonsynonymous SNV	PCARE:NM_001029883:exon1:c.T740C:p.V247A	.	0	1521	1	0	0	1	0.000328623	.	.	.	708226	not_provided|Retinitis_pigmentosa	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	.	0.0093	0.0091853	0.0030	0.0328	0.0016	0	0	0.0002	0	0.0002	0.0027943	432	154602	rs77828062	0.0010	0.0010	0.0011	0.0009	0.0334	0.0010	0.0010	0.0317	0.0311	0.0334	0.0020	0.0024	0	0	0.0024	3.507e-05	0.0028	0.0001	0.0096	0.0096	0.0101	0.0090	0.0321	0.0092	0.0090	0.0306	0.0301	0.0321	0	0.0067	0.0017	0	0	0	4.412e-05	0.0057	0	0.244	0.17468	T	0.284	0.21411	T	0.865	0.47557	P	0.301	0.41090	B	0.014661	0.28470	N	0.361101	0.993976	0.23612	N	.	.	.	1.82	0.25018	T	-2.0	0.46146	N	0.116	0.10483	-1.0749	0.08369	T	0.015	0.05801	T	10	0.0025000274	0.00038	T	.	.	.	0.043	0.11576	.	.	0.675970969783	0.67322	0.1711632582851432	0.17036	0.021579088437	0.02143	.	.	.	0.016226	0.13452	T	-0.600588	0.00145	T	-0.611794	0.11840	T	0.0461164502634913	0.04804	T	0.512749	0.16428	T	0.08741807	0.20355	0.099121064	0.23655	0.08741807	0.20355	0.099121064	0.23654	-2.261	0.04347	T	.	.	0.302	0.53166	B	.	.	2.027353	0.25767	16.88	0.99627246301037176	0.75776	0.72015	0.35266	D	AEFDGBI	0.151321	0.27579	N	0.109915448438218	0.46925	2.925486	0.118476581072193	0.45496	2.81158	0.920280903874932	0.26627	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	4.49	0.54177	3.852000	0.55642	4.729000	0.44544	0.756000	0.94297	0.703000	0.28654	0.894000	0.27871	0.005000	0.06747	0.8938:0.0:0.1062:0.0	10.175	0.42109	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	4792.43	47	chr2	29073522	.	A	G	4792.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=1369;ExcessHet=0;FS=0.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.214;SOR=0.746	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	29383765	29383765	C	T	exonic	ALK	.	nonsynonymous SNV	ALK:NM_004304:exon5:c.G1249A:p.V417M	.	1	1517	4	0	0	4	0.00131666	.	.	.	288996	Hereditary_cancer-predisposing_syndrome|Neuroblastoma,_susceptibility_to,_3	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013083,MedGen:C2751681,OMIM:613014,Orphanet:635	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.233	0.0136436520712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886055931	2.736e-06	2.736e-06	0	5.5e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.38863	T	0.131	0.34596	T	0.973	0.57599	D	0.738	0.55619	P	0.006320	0.32122	N	0.000000	0.996514	0.81001	D	0	0.06538	N	4.23	0.02616	T	-0.74	0.20791	N	0.377	0.41853	-0.6748	0.61611	T	0.013	0.05177	T	9	0.33159825	0.50379	T	0.013644	0.33196	T	0.233	0.53499	0.242	0.17524	0.611038123743	0.60791	0.35552400121923233	0.35466	0.353429344433	0.37145	0.591024816036	0.51638	T	0.074803	0.35025	T	-0.0275541	0.47772	T	-0.277356	0.47075	T	0.589602339342177	0.35990	D	0.777822	0.41150	T	0.097921595	0.23089	0.100948945	0.24151	0.097921595	0.23089	0.100948945	0.24151	-4.601	0.32184	T	.	.	0.322	0.54623	B	.;.	.;.	4.619491	0.73340	26.0	0.99895841201538604	0.96895	0.89015	0.49233	D	AEFI	0.208580	0.33465	N	0.410592106906504	0.62004	4.409483	0.504469044310729	0.68292	5.19977	0.950876442702386	0.27923	0.500041	0.20204	0	0.59043	0.45803	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	6.02	6.02	0.97559	2.317000	0.43429	7.628000	0.62604	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.693	0.88181	664	0.61548	MAM domain|MAM domain|MAM domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1450.43	34	chr2	29383765	.	C	T	1450.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.964;DP=440;ExcessHet=0;FS=4.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.555;SOR=0.709	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	9	0	1	0
chr2	30743428	30743428	G	A	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon13:c.C1400T:p.A467V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	.	0.0061	0.00399361	0.0016	0.0183	0.0005	0	0	0.0001	0	0	0.0015265	236	154602	rs80066698	0.0006	0.0006	0.0007	0.0006	0.0214	0.0006	0.0006	0.0201	0.0196	0.0214	0.0010	0	2.519e-05	0	0.0009	6.926e-05	0.0016	4.637e-05	0.0055	0.0055	0.0056	0.0055	0.0190	0.0052	0.0051	0.0179	0.0175	0.0190	0	0.0024	0	0.0002	0	0	0.0001	0.0033	0	0.6	0.05635	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.188971	0.03236	N	1.922980	1	0.08975	N	-0.69	0.01958	N	-2.4	0.88455	D	-0.5	0.15782	N	0.289	0.32701	-0.7715	0.56775	T	0.163	0.49897	T	10	0.004886955	0.00104	T	.	.	.	0.301	0.62179	.	.	0.422762650823	0.41893	0.32644911975960844	0.32557	0.0607266434557	0.06755	0.30071747303	0.10508	T	0.200453	0.55805	T	-0.445946	0.01193	T	-0.397752	0.33646	T	0.00350838110831944	0.00037	T	0.310869	0.06046	T	0.022608576	0.00936	0.04203741	0.04915	0.022608576	0.00936	0.04203741	0.04914	-3.29	0.13608	T	.	.	0.099	0.16538	B	.	.	-0.366319	0.02342	0.252	0.69625885820983924	0.09032	0.00248	0.01370	N	AEFBI	0.034414	0.04257	N	-1.68537549736341	0.00895	0.03873507	-1.64918202048539	0.01380	0.0623488	0.0232642643586011	0.13494	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.52	-2.67	0.05703	-0.350000	0.07769	0.310000	0.17073	-0.739000	0.03678	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6904:0.0:0.3096:0.0	13.014	0.58155	854	0.34840	Peptidase C2, calpain, large subunit, domain III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1320.43	36	chr2	30743428	.	G	A	1320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.373;DP=439;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.079;SOR=0.611	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1068	9	0	1	0
chr2	30743578	30743578	C	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon13:c.G1250A:p.R417Q	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.02015968382	0.0003	0.000199681	0.0006	0.0001	0	0	0	0.0005	0.0022	0.0024	0.0005239	81	154602	rs199664439	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0002	0.0018	0.0017	8.961e-05	0	0.0056	2.519e-05	0	0.0021	4.317e-05	0.0003	0.0020	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0001	0.0010	0.0007	0.0001	0	6.539e-05	0.0040	0	0	0	2.94e-05	0.0005	0.0019	0.558	0.06421	T	0.59	0.08217	T	0.0	0.02946	B	0.001	0.04355	B	0.023798	0.01599	N	2.057350	1	0.08975	N	-0.345	0.03330	N	-2.12	0.86283	D	0.4	0.03463	N	0.248	0.28028	-0.6886	0.60973	T	0.353	0.71681	T	10	0.0061825514	0.00139	T	0.02016	0.42696	T	0.142	0.37995	.	.	0.328486982098	0.32448	0.17992038303967106	0.17911	0.0685723490083	0.07678	0.19009770453	0.00227	T	0.064841	0.32536	T	-0.518367	0.00450	T	-0.523233	0.19968	T	0.0052359043274344	0.00057	T	0.334567	0.07109	T	0.018898956	0.00413	0.028977389	0.01186	0.018898956	0.00413	0.028977389	0.01186	-3.211	0.12615	T	.	.	0.074	0.05103	B	.	.	2.433607	0.31314	18.70	0.68717147169813797	0.08744	0.00161	0.00961	N	AEFBI	0.062672	0.12063	N	-1.52001050913413	0.01718	0.07520484	-1.49803001673664	0.02360	0.1084461	0.00725282706029168	0.11422	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.76	-0.414	0.11743	-0.337000	0.07898	0.890000	0.22465	-2.492000	0.00266	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.1348:0.1406:0.7245	6.879	0.23344	854	0.34840	Peptidase C2, calpain, large subunit, domain III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	432.43	36	chr2	30743578	.	C	T	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=328;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.02;ReadPosRankSum=-2.06;SOR=0.42	GT:AD:DP:GQ:PL	0/1:9,15:24:99:444,0,210	9	0	1	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.05	1820.43	129	chr2	30787266	.	G	T	1820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.795;DP=449;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-1.027;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1046	9	0	1	0
chr2	32611448	32611448	G	A	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon73:c.G14257A:p.V4753I,BIRC6:NM_016252:exon73:c.G14260A:p.V4754I	.	.	.	.	.	.	.	.	0.9987	0.838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0967507351937	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237464725	1.377e-06	2.052e-06	1.37e-06	1.384e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.102	0.38450	T	.	.	.	.	.	.	0.000004	0.62929	D	0.060926	1	0.81001	D	.	.	.	-1.16	0.78082	T	-0.9	0.24244	N	0.637	0.64989	-0.2568	0.76174	T	0.454	0.78720	T	9	0.5507342	0.64241	D	0.096751	0.76656	D	0.361	0.68141	0.301	0.26843	0.742858459262	0.74054	0.4912516198523563	0.49046	0.245701231888	0.27094	0.775584161282	0.78262	T	.	.	.	0.0659311	0.60349	T	-0.143071	0.59851	T	0.774316285448076	0.44701	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19720	B	.	.	3.950658	0.57877	23.9	0.99614270990187148	0.74992	0.96648	0.70202	D	AEFDBHCI	0.912989	0.87436	D	0.499343894379197	0.67051	5.030487	0.542990878420343	0.70913	5.575395	0.999999999982636	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	9.909000	0.98664	11.696000	0.94428	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:1.0:0.0	17.794	0.88474	182	0.92924	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	799.14	34	chr2	32611448	.	G	A	799.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.396;DP=366;ExcessHet=0.2348;FS=1.978;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.157;SOR=0.99	GT:AD:DP:GQ:PL	0/1:23,12:35:99:280,0,647	8	0	2	0
chr2	32812511	32812511	A	G	exonic	TTC27	.	nonsynonymous SNV	TTC27:NM_001193509:exon18:c.A2054G:p.Q685R,TTC27:NM_017735:exon18:c.A2204G:p.Q735R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0175896223755	0.0012	.	0.0006	0.0002	0.0003	0	0	0.0009	0	0.0001	0.0005627	87	154602	rs138466700	0.0009	0.0009	0.0009	0.0009	0.0010	0.0008	0.0008	0.0010	0.0009	0.0002	0.0008	0.0023	0	0	0.0009	0.0010	0.0009	4.648e-05	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0006	0.0006	0.0002	0	0.0010	0.0023	0	0	0	0.0008	0.0024	0.0002	0.006	0.61437	D	0.042	0.50226	D	0.321	0.33029	B	0.1	0.30674	B	0.000425	0.44522	D	0.198555	0.999997	0.58761	D	2.725	0.79712	M	1.2	0.37405	T	-2.43	0.53258	N	0.57	0.59308	-1.0465	0.15389	T	0.079	0.31435	T	10	0.06265825	0.08046	T	0.01759	0.39349	T	0.175	0.44197	.	.	0.421184727016	0.41734	0.4835292919405048	0.48272	0.129811716182	0.14634	0.399931490421	0.25060	T	0.173515	0.52241	T	-0.289085	0.09728	T	-0.212655	0.53441	T	0.146230721394189	0.16800	T	0.857114	0.54640	D	0.33982012	0.56266	0.2592431	0.51669	0.33982012	0.56266	0.2592431	0.51669	-3.737	0.19865	T	.	.	0.097	0.15832	B	.	.	3.263800	0.44646	22.0	0.99678416016380544	0.79108	0.91443	0.53544	D	ALL	0.754303	0.69422	D	-0.028856392830235	0.40552	2.41018	0.121293419843354	0.45639	2.823591	0.999999999996286	0.74766	0.839682	0.99964	0	0.724815	0.89359	0	0.659464	0.59346	0	0.830532	0.99962	0	.	.	5.18	5.18	0.71140	5.818000	0.68915	7.004000	0.57207	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.021	0.71291	210	0.91826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1690.43	34	chr2	32812511	.	A	G	1690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.769;DP=445;ExcessHet=0;FS=1.417;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.232;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1344	9	0	1	0
chr2	33347499	33347499	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon21:c.G2885A:p.R962Q,LTBP1:NM_001166266:exon21:c.G2726A:p.R909Q,LTBP1:NM_000627:exon22:c.G3011A:p.R1004Q,LTBP1:NM_001166265:exon22:c.G2852A:p.R951Q,LTBP1:NM_206943:exon26:c.G3989A:p.R1330Q	.	430	1028	59	5	0	69	0.0324706	.	.	YES	719865	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.329	.	0.0048	0.00239617	0.0046	0.0010	0.0027	0	0.0011	0.0059	0.0110	0.0064	0.0044113	682	154602	rs141080282	0.0046	0.0046	0.0045	0.0048	0.0326	0.0045	0.0045	0.0288	0.0273	0.0015	0.0041	0.0065	2.519e-05	0.0008	0.0326	0.0047	0.0060	0.0062	0.0044	0.0044	0.0046	0.0042	0.0083	0.0041	0.0040	0.0071	0.0067	0.0009	0	0.0083	0.0069	0	0.0008	0.0272	0.0061	0.0095	0.0056	0.007	0.61437	D	0.089	0.46862	T	0.937	0.65571	P	0.361	0.59331	B	.	.	.	.	0.986415	0.41471	D	0.84	0.21119	L	-1.45	0.81559	T	-1.77	0.53577	N	0.17	0.23506	-0.2989	0.75015	T	0.443	0.78020	T	9	0.0047613382	0.00101	T	.	.	.	0.329	0.65126	.	.	0.20808081866	0.20439	0.5008590233587867	0.50007	0.166082223785	0.18743	0.329884946346	0.14917	T	0.154079	0.49521	T	-0.302344	0.08439	T	-0.203068	0.54355	T	0.0117555559307881	0.00181	T	0.90461	0.67274	D	0.0548804	0.10592	0.079973504	0.18051	0.0548804	0.10591	0.079973504	0.18050	-3.652	0.18715	T	.	.	0.084	0.12750	B	.;.;.;.;.;.	.;.;.;.;.;.	3.092193	0.41643	21.4	0.9962135397256433	0.75413	0.58970	0.30787	D	AEFBI	0.116140	0.22806	N	-0.261098715989665	0.30663	1.711816	-0.257002608460044	0.29531	1.655216	0.968231963240508	0.29037	0.706548	0.73137	0	0.588015	0.36545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.19	3.32	0.37134	1.551000	0.35841	7.375000	0.58420	-0.126000	0.13398	0.354000	0.25792	1.000000	0.68203	0.290000	0.24260	0.0741:0.1778:0.6105:0.1376	5.496	0.16096	850	0.35610	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.015152	0.024457	0.046784	0.000000	0.043103	0.027439	0.003788	0.05	948.43	33	chr2	33347499	.	G	A	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=412;ExcessHet=0;FS=2.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-1.343;SOR=1.024	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	9	0	1	0
chr2	33364339	33364339	G	A	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon25:c.G3419A:p.R1140Q,LTBP1:NM_001166266:exon25:c.G3260A:p.R1087Q,LTBP1:NM_000627:exon26:c.G3545A:p.R1182Q,LTBP1:NM_001166265:exon26:c.G3386A:p.R1129Q,LTBP1:NM_206943:exon30:c.G4523A:p.R1508Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	2768282	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.042033281907	.	.	1.661e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs776305062	1.848e-05	1.847e-05	1.906e-05	1.789e-05	0.0002	1.266e-05	1.085e-05	0.0001	0.0001	0.0001	0	0	0	0	0	1.799e-06	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	0.12632	T	0.554	0.15456	T	0.012	0.16265	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	-1.35	0.80035	T	-0.32	0.13418	N	0.266	0.39760	-0.8651	0.50893	T	0.310	0.68039	T	9	0.04400447	0.03309	T	0.042033	0.60250	D	0.110	0.31079	0.353	0.35246	0.123314135267	0.11883	0.42488900477367403	0.42405	0.149980470515	0.16919	0.210463032126	0.00831	T	0.129939	0.45853	T	-0.336584	0.05628	T	-0.484587	0.23960	T	0.0143865193751276	0.00289	T	0.852615	0.53799	D	0.027185457	0.01876	0.04741388	0.06822	0.027185457	0.01875	0.04741388	0.06822	-5.673	0.44592	T	.	.	0.060	0.03811	B	.;.;.;.;.	.;.;.;.;.	0.940947	0.13168	9.667	0.74966074742575028	0.10894	0.06355	0.12354	N	AEFGBI	0.060686	0.11551	N	-1.29741318138643	0.03707	0.1660684	-1.30873828180223	0.04316	0.2033252	0.999935620407421	0.46732	0.706298	0.61202	0	0.573888	0.26702	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.12	-1.87	0.07317	0.494000	0.22175	2.144000	0.30864	-0.127000	0.13314	0.036000	0.20778	0.836000	0.27257	0.117000	0.19042	0.5266:0.0:0.4734:0.0	10.690	0.45061	845	0.36510	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1386.43	38	chr2	33364339	.	G	A	1386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.948;DP=434;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.099;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	9	0	1	0
chr2	33585568	33585568	C	T	exonic	FAM98A	.	nonsynonymous SNV	FAM98A:NM_001304538:exon6:c.G265A:p.G89S,FAM98A:NM_015475:exon7:c.G850A:p.G284S	.	438	1083	1	0	0	1	0.000461467	.	.	.	2248205	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.0603871614955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341230632	4.788e-06	5.472e-06	6.806e-06	2.75e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.102	0.34095	T	0.039	0.55759	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.8	0.48769	T	-2.2	0.49519	N	0.646	0.65758	-0.6046	0.64627	T	0.293	0.66441	T	10	0.6062636	0.67192	D	0.060387	0.67983	D	0.316	0.63799	.	.	0.21174354426	0.20776	0.5880683130342318	0.58736	0.487873399504	0.47601	0.675837039948	0.63673	T	.	.	.	-0.00519172	0.50936	T	-0.245234	0.50286	T	0.902391314506531	0.55535	D	0.974303	0.95630	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.75899	P	.;.	.;.	4.601347	0.72877	25.9	0.99709583962975845	0.81213	0.99681	0.98618	D	AEFBI	0.928491	0.91279	D	0.735468011974006	0.81958	7.645274	0.726593197946371	0.84395	8.280749	0.999999999999888	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.751000	0.84010	5.938000	0.51432	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.459	0.94901	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1676.43	34	chr2	33585568	.	C	T	1676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.762;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.463;SOR=0.675	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1211	9	0	1	0
chr2	36479554	36479554	C	T	exonic	CRIM1	.	nonsynonymous SNV	CRIM1:NM_016441:exon7:c.C1232T:p.A411V	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0248389160752	7.7e-05	.	4.119e-05	0	0	0	0	4.496e-05	0	0.0001	3.23e-05	5	154602	rs369088958	3.557e-05	3.557e-05	3.131e-05	3.988e-05	0.0003	2.762e-05	2.501e-05	6.092e-05	4.042e-05	0	0.0001	0	0	0	0.0003	2.878e-05	6.623e-05	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.059	0.37536	T	0.064	0.44905	T	0.982	0.60036	D	0.864	0.61462	P	0.000012	0.62929	D	0.112485	0.999968	0.52935	D	2.08	0.57402	M	-0.67	0.72458	T	-1.49	0.36385	N	0.642	0.65416	-0.5177	0.68000	T	0.356	0.71873	T	10	0.62277395	0.68072	D	0.024839	0.47825	T	0.376	0.69443	.	.	0.788773104087	0.78681	0.28720434311986587	0.28633	0.863726277487	0.69089	0.531118988991	0.43192	T	0.080719	0.36429	T	-0.0191033	0.48980	T	-0.00553798	0.69976	D	0.368801534175873	0.27751	T	0.931207	0.74412	D	0.12226066	0.28735	0.14209023	0.33816	0.12226066	0.28734	0.14209023	0.33815	-6.908	0.53358	T	.	.	0.261	0.49577	B	.	.	4.874840	0.79899	27.2	0.99928083905759579	0.99222	0.91036	0.52735	D	AEFBHCI	0.795330	0.72278	D	0.504406284965354	0.67350	5.069898	0.526584015670405	0.69785	5.410131	0.999999999996352	0.74766	0.722319	0.85440	0	0.670034	0.63936	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.34	5.34	0.75982	3.882000	0.55873	7.700000	0.66237	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.844000	0.39860	0.0:0.8493:0.1507:0.0	14.068	0.64365	930	0.16408	VWFC domain|VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2031.43	35	chr2	36479554	.	C	T	2031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.121;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.172;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1353	9	0	1	0
chr2	36808763	36808763	G	C	exonic	VIT	.	nonsynonymous SNV	VIT:NM_001177970:exon13:c.G1573C:p.E525Q,VIT:NM_001177971:exon13:c.G1570C:p.E524Q,VIT:NM_001177969:exon14:c.G1636C:p.E546Q,VIT:NM_001328661:exon14:c.G1615C:p.E539Q,VIT:NM_053276:exon15:c.G1681C:p.E561Q	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.128613976033	.	.	6.599e-05	0	0	0	0	6e-05	0	0.0002	3.84e-05	1	26028	rs199704976	7.731e-05	7.73e-05	6.262e-05	9.215e-05	0.0012	6.533e-05	6.136e-05	0.0006	0.0004	0	2.236e-05	0	2.519e-05	1.872e-05	0.0012	6.206e-05	4.968e-05	0.0004	8.533e-05	8.53e-05	8.991e-05	8.054e-05	0.0004	4.952e-05	3.959e-05	9.046e-05	7.011e-05	0	0	0	0	0	0	0	0.0002	0	0.0004	0.008	0.58626	D	0.006	0.72224	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.525	0.73725	M	-1.83	0.84122	D	-2.87	0.61865	D	0.907	0.91505	0.573	0.91539	D	0.738	0.91033	D	10	0.895501	0.88903	D	0.128614	0.81057	D	0.762	0.91920	.	.	0.947900896285	0.94735	0.82444356138451	0.82402	0.199556644927	0.22355	0.411731541157	0.26696	T	0.525717	0.83495	D	0.0937972	0.63614	D	0.193149	0.82747	D	0.708760380744934	0.41139	D	0.974903	0.92042	D	0.47202104	0.65414	0.37514183	0.62664	0.47202104	0.65415	0.37514183	0.62664	-9.47	0.71045	D	.	.	0.81	0.77754	P	.;.;.;.;.;.	.;.;.;.;.;.	5.251788	0.88174	29.5	0.99842099459847067	0.92229	0.96440	0.69150	D	AEFGBCI	0.934043	0.92683	D	0.77476413374736	0.84504	8.306511	0.720491238246952	0.83934	8.154039	0.999999999359838	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	4.39	0.52211	10.003000	0.99689	11.925000	0.99859	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0736:0.0:0.9264:0.0	13.845	0.62956	720	0.55521	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	3230.43	37	chr2	36808763	.	G	C	3230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=543;ExcessHet=0;FS=1.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-2.823;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr2	36981635	36981635	A	C	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon36:c.T6071G:p.V2024G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.1825336059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.981	0.59675	D	0.838	0.60045	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.175	0.60977	M	-0.24	0.66834	T	-5.34	0.84674	D	0.72	0.72209	-0.0967	0.80174	T	0.430	0.77206	T	10	0.8576568	0.84969	D	0.182534	0.85627	D	0.808	0.93777	0.701	0.83777	0.744207644143	0.74190	0.7671705726874721	0.76666	0.466828294112	0.46077	0.807411313057	0.83095	D	0.31706	0.68854	T	0.35581	0.86926	D	0.27332	0.86754	D	0.993460416793823	0.84273	D	0.815218	0.46991	T	0.81633615	0.84974	0.8453379	0.91192	0.81633615	0.84975	0.8453379	0.91192	-6.944	0.53624	T	.	.	0.960	0.88070	P	.	.	4.752972	0.76773	26.6	0.99622264701944974	0.75473	0.98925	0.88709	D	AEFBI	0.904328	0.85449	D	0.791480767864846	0.85567	8.615401	0.791096993085993	0.89167	9.865248	0.999991029511885	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.61	5.61	0.85347	9.031000	0.93222	11.252000	0.90779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.102	0.81002	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1191.43	33	chr2	36981635	.	A	C	1191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=431;ExcessHet=0;FS=3.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.198;SOR=1.099	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1029	9	0	1	0
chr2	37228936	37228936	G	T	exonic	CEBPZ	.	nonsynonymous SNV	CEBPZ:NM_005760:exon2:c.C257A:p.A86E	.	447	1069	5	1	0	7	0.0032634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.00658580199601	.	.	0.0003	0	8.743e-05	0	0	0	0.0022	0.0018	0.0002135	33	154602	rs753188011	0.0002	0.0002	4.771e-05	0.0003	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0002	6.3e-06	8.289e-05	0.0026	7.228e-05	7.876e-05	1.286e-05	0.0001	0.0023	3.971e-05	3.127e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.027	0.58626	D	0.542	0.67890	T	0.577	0.38740	P	0.166	0.35067	B	0.001117	0.40219	N	0.279795	0.829737	0.28775	N	2.515	0.73286	M	4.26	0.02538	T	-0.6	0.55339	N	0.245	0.27673	-1.0571	0.12491	T	0.011	0.04042	T	10	0.024687827	0.00688	T	0.006586	0.17358	T	0.144	0.38394	0.313	0.28774	0.482574385019	0.47888	0.3121838290983776	0.31131	0.018529855909	0.01803	0.362130075693	0.19695	T	0.040736	0.58889	T	-0.423029	0.01636	T	-0.387692	0.34823	T	0.107018404410284	0.13112	T	0.785321	0.42297	T	0.29891884	0.52808	0.3171151	0.57688	0.29891884	0.52808	0.3171151	0.57688	-2.64	0.06813	T	.	.	0.141	0.51023	B	.;.	.;.	2.603944	0.33808	19.45	0.96963111189555162	0.31787	0.95005	0.63093	D	AEFDBHCI	0.306112	0.41335	N	0.245682361104329	0.53426	3.511468	0.384723930822982	0.60621	4.251906	0.999999997332259	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.662677	0.59975	0	0.727631	0.95156	0	.	.	5.65	5.65	0.86881	3.883000	0.55880	8.486000	0.77314	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.725	0.96155	499	0.76092	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	539.43	39	chr2	37228936	.	G	T	539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.181;DP=361;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.792;SOR=0.731	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,963	9	0	1	0
chr2	38071251	38071251	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon3:c.G1103A:p.R368H	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1399	110	13	0	136	0.0463531	.	.	YES	22778	Anterior_segment_dysgenesis_6|Glaucoma_3A|Glaucoma_3,_primary_infantile,_B|Congenital_ocular_coloboma|Irido-corneo-trabecular_dysgenesis|not_specified|Primary_congenital_glaucoma|Glaucoma,_early-onset,_digenic|not_provided|CYP1B1-related_disorder|Myopathy,_centronuclear,_5|Congenital_glaucoma	MONDO:MONDO:0015016,MedGen:C4310623,OMIM:617315|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977|MONDO:MONDO:0010968,MedGen:C1832977,OMIM:600975,Orphanet:98976|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MedGen:CN169374|Human_Phenotype_Ontology:HP:0008007,MONDO:MONDO:0000365,MedGen:C1533041|MedGen:C4016760|MedGen:C3661900|MedGen:CN239260|MONDO:MONDO:0014418,MedGen:C4014814,OMIM:615959,Orphanet:169186|MONDO:MONDO:0020366,MedGen:C0020302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.751	.	0.0016	0.00419329	0.0062	0.0004	0.0033	0	0	0.0029	0.0138	0.0294	0.0050646	783	154602	rs79204362	0.0032	0.0032	0.0022	0.0043	0.0311	0.0032	0.0031	0.0302	0.0298	0.0005	0.0021	0.0205	5.038e-05	7.643e-05	0.0236	0.0009	0.0041	0.0311	0.0020	0.0020	0.0016	0.0025	0.0245	0.0018	0.0018	0.0209	0.0195	0.0005	0	0.0012	0.0179	0	0	0.0205	0.0011	0.0047	0.0245	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	0.000000	0.84330	D	0.050909	0.999999	0.58761	A	3.06	0.86941	M	.	.	.	.	.	.	0.819	0.85132	0.251	0.86759	D	0.577	0.84738	D	9	0.009640098	0.00217	T	.	.	.	.	.	.	.	0.341696514166	0.33777	0.8175150785253305	0.81708	.	.	0.417915016413	0.27551	T	0.59259	0.86824	D	0.0961558	0.63873	D	0.388342	0.91724	D	0.0597581842735867	0.07131	T	0.933807	0.75196	D	0.90570295	0.91898	0.68082505	0.81245	0.8872861	0.90276	0.8142974	0.89175	-9.232	0.69178	D	.	.	0.200	0.42404	B	.;.	.;.	5.330663	0.89461	30	0.99942312783438658	0.99824	0.96543	0.69666	D	AEFDGBCI	0.942825	0.94789	D	0.728153233663213	0.81478	7.531585	0.629670928743175	0.77105	6.615648	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.401104	0.06395	2	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	7.798000	0.84489	7.710000	0.66754	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	17.194	0.86768	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013650	0.005051	0.005435	0.017544	0.050000	0.025862	0.015528	0.026515	0.05	2734.43	48	chr2	38071251	.	C	T	2734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.031;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	38074704	38074704	C	T	exonic	CYP1B1	.	nonsynonymous SNV	CYP1B1:NM_000104:exon2:c.G685A:p.E229K	Anterior segment dysgenesis 6, multiple subtypes;Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, Autosomal recessive	0	1411	106	5	0	116	0.0394826	.	.	.	79359	not_provided|Irido-corneo-trabecular_dysgenesis|Congenital_glaucoma|Congenital_ocular_coloboma|not_specified|Glaucoma_3A	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000659,MONDO:MONDO:0011414,MedGen:C0344559,OMIM:604229,Orphanet:708|MONDO:MONDO:0020366,MedGen:C0020302|Human_Phenotype_Ontology:HP:0000589,Human_Phenotype_Ontology:HP:0007767,Human_Phenotype_Ontology:HP:0007995,MONDO:MONDO:0001476,MedGen:C0009363,Orphanet:194|MedGen:CN169374|MONDO:MONDO:0009277,MedGen:C1856439,OMIM:231300,Orphanet:98976,Orphanet:98977	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign|other	.	.	.	.	.	.	.	.	0.395	.	0.0037	0.0103834	0.0142	0.0017	0.0025	0	0.0040	0.0098	0.0214	0.0562	0.0107955	1669	154602	rs57865060	0.0085	0.0085	0.0070	0.0101	0.0518	0.0084	0.0083	0.0506	0.0501	0.0010	0.0021	0.0101	5.041e-05	0.0026	0.0206	0.0061	0.0088	0.0518	0.0062	0.0062	0.0055	0.0069	0.0503	0.0059	0.0057	0.0451	0.0431	0.0008	0	0.0034	0.0118	0.0004	0.0023	0.0102	0.0078	0.0076	0.0503	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000014	0.62929	D	0.111194	0.999619	0.47849	D	1.57	0.39626	L	.	.	.	.	.	.	0.697	0.70351	-0.8290	0.53365	T	0.124	0.42841	T	10	0.004917532	0.00105	T	.	.	.	.	.	.	.	.	.	0.5846823461645314	0.58398	.	.	0.597627282143	0.52569	T	0.457736	0.79599	T	-0.163042	0.26294	T	0.029531	0.72247	D	0.026333973035908	0.01451	T	0.933007	0.74900	D	0.62011653	0.73769	0.7128727	0.83058	0.72305995	0.79334	0.68006516	0.81203	-9.726	0.72255	D	.	.	0.244	0.53261	B	.;.	.;.	3.594627	0.50741	23.0	0.99863475441628191	0.94184	0.79813	0.39624	D	AEFDGBHCI	0.475083	0.51907	N	0.142951330129671	0.48478	3.059665	0.201290397305074	0.49920	3.189551	0.999999999999926	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.65	3.77	0.42499	2.673000	0.46524	3.320000	0.37537	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.9053:0.0:0.0947	10.465	0.43786	922	0.19044	.;.	EIF2AK2	Cells_Cultured_fibroblasts	.	.	rs57865060	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018182	0.005102	0.008152	0.017544	0.050000	0.008621	0.024540	0.049242	0.1	6328.12	34	chr2	38074704	.	C	T	6328.12	.	AC=2;AF=0.1;AN=20;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.79;SOR=0.703	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	1	0	0
chr2	38826005	38826005	A	C	exonic	DHX57	.	nonsynonymous SNV	DHX57:NM_001329963:exon16:c.T2550G:p.F850L,DHX57:NM_198963:exon16:c.T2856G:p.F952L	.	431	1090	1	0	0	1	0.000458505	.	.	.	3219526	DHX57-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.0370343606611	7.7e-05	0.000798722	0.0005	0	8.652e-05	0	0	5.998e-05	0	0.0035	0.0004269	66	154602	rs201583373	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	0	0	2.519e-05	0	0.0003	2.788e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0039	0.0001	9.229e-05	0.0026	0.0021	0	0	0.0001	0	0	0	0	4.409e-05	0	0.0039	.	.	.	0.012	0.63918	D	0.908	0.50127	P	0.626	0.51600	P	0.000023	0.55875	D	0.000000	0.999414	0.46970	D	0.24	0.09707	N	.	.	.	.	.	.	0.658	0.66787	-0.6408	0.63112	T	0.271	0.64245	T	10	0.017892092	0.00385	T	0.037034	0.57367	D	.	.	0.661	0.79894	0.527958119908	0.52444	0.36180615434691105	0.36094	.	.	0.748356878757	0.74204	T	0.493048	0.81676	T	-0.205285	0.20046	T	-0.068493	0.65733	T	0.103152001197699	0.12700	T	0.950205	0.80929	D	0.37587073	0.59016	0.27807185	0.53765	0.37587073	0.59016	0.27807185	0.53764	-9.263	0.69374	D	.	.	0.918	0.84053	P	.	.	3.143192	0.42517	21.6	0.99552066959852803	0.71211	0.71527	0.35051	D	AEFBCI	0.146851	0.27039	N	-0.0977904261448906	0.37487	2.181772	-0.00192462490022922	0.39628	2.352589	0.267659088788325	0.18858	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	3.15	0.35301	1.767000	0.38131	0.248000	0.16392	0.756000	0.94297	1.000000	0.71638	0.243000	0.23865	0.994000	0.71098	0.7319:0.1306:0.1375:0.0	6.493	0.21325	685	0.59416	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001010	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.003788	0.05	1155.43	35	chr2	38826005	.	A	C	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=411;ExcessHet=0;FS=1.753;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.953;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1095	9	0	1	0
chr2	38931156	38931156	C	G	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon7:c.C410G:p.A137G,ARHGEF33:NM_001367623:exon7:c.C410G:p.A137G	.	433	1070	18	1	0	20	0.00925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00493584759959	0.0044	0.00279553	0.0062	0.0028	0.0024	0	0.0025	0.0051	0.0042	0.0097	0.0018176	281	154602	rs199921991	0.0067	0.0064	0.0064	0.0069	0.0098	0.0066	0.0065	0.0093	0.0090	0.0010	0.0019	0.0017	0	0.0031	0.0060	0.0073	0.0061	0.0098	0.0044	0.0044	0.0044	0.0043	0.0087	0.0041	0.0040	0.0066	0.0063	0.0011	0	0.0032	0.0017	0.0002	0.0031	0.0136	0.0070	0.0047	0.0087	0.035	0.43708	D	0.122	0.35710	T	.	.	.	.	.	.	0.913594	0.07431	U	1.052340	1	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-0.83	0.22727	N	0.095	0.13769	-1.0834	0.06702	T	0.047	0.20116	T	10	0.0042744577	0.00086	T	0.004936	0.12411	T	0.065	0.18881	.	.	0.0884992946249	0.08302	0.29298477614894286	0.29211	.	.	0.408736348152	0.26282	T	.	.	.	-0.550632	0.00289	T	-0.552045	0.17130	T	0.00857455049892436	0.00105	T	0.775222	0.40690	T	.	.	.	.	.	.	.	.	-3.601	0.17871	T	.	.	0.089	0.12276	B	.;.	.;.	1.962825	0.24933	16.58	0.98561748407481908	0.42986	0.08240	0.14194	N	AEFI	0.094228	0.19055	N	-0.624829131922255	0.18200	0.943026	-0.522077609026466	0.21554	1.166563	0.594906135044483	0.21677	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.66	4.78	0.60666	1.387000	0.34037	3.918000	0.40452	0.594000	0.32500	0.012000	0.18695	0.835000	0.27248	0.942000	0.48361	0.0:0.8082:0.0:0.1918	6.345	0.20548	636	0.64483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002500	0.005319	0.000000	0.000000	0.083333	0.000000	0.005882	0.000000	0.05	887.43	33	chr2	38931156	.	C	G	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.398;DP=415;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-1.117;SOR=0.82	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1125	9	0	1	0
chr2	38959867	38959867	G	C	exonic	ARHGEF33	.	nonsynonymous SNV	ARHGEF33:NM_001145451:exon16:c.G1562C:p.S521T,ARHGEF33:NM_001367623:exon16:c.G1562C:p.S521T	.	419	1087	15	1	0	17	0.00775901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0092	0.00259585	0.0077	0.0037	0.0104	0	0.0029	0.0135	0.0043	0.0035	0.0023286	360	154602	rs201925961	0.0097	0.0093	0.0097	0.0096	0.0127	0.0095	0.0095	0.0104	0.0102	0.0024	0.0096	0.0248	0	0.0068	0.0127	0.0105	0.0101	0.0027	0.0077	0.0077	0.0083	0.0071	0.0110	0.0074	0.0072	0.0104	0.0101	0.0037	0	0.0068	0.0248	0	0.0042	0.0136	0.0110	0.0095	0.0033	0.281	0.15458	T	0.769	0.04492	T	.	.	.	.	.	.	.	.	.	.	0.99891	0.21810	N	0.695	0.17993	N	0.79	0.49068	T	-0.03	0.07444	N	0.065	0.06454	-1.0578	0.12311	T	0.062	0.25887	T	9	0.0036280155	0.00066	T	.	.	.	0.056	0.15993	.	.	0.124217242631	0.12060	0.3194243498274613	0.31855	.	.	0.438303112984	0.30345	T	.	.	.	-0.614037	0.00120	T	-0.643122	0.09443	T	0.00991943828818208	0.00132	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-3.569	0.17410	T	.	.	0.078	0.06896	B	.;.	.;.	2.471970	0.31864	18.87	0.98122794707842576	0.38448	0.81894	0.41209	D	AEFDBCI	0.292932	0.40368	N	-0.252721942049127	0.30994	1.733645	-0.0638757124785495	0.36897	2.153146	0.999977932084475	0.50053	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.12	4.18	0.48473	1.738000	0.37831	6.223000	0.55146	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.24:0.76:0.0	14.663	0.68495	544	0.72685	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014170	0.000000	0.024038	0.008333	0.083333	0.000000	0.029126	0.009091	0.05	2310.43	34	chr2	38959867	.	G	C	2310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.855;DP=555;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.813;SOR=0.807	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1228	9	0	1	0
chr2	38986117	38986117	G	C	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382395:exon22:c.C3664G:p.P1222A,SOS1:NM_001382394:exon23:c.C3688G:p.P1230A,SOS1:NM_005633:exon23:c.C3709G:p.P1237A	Noonan syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	286291	Noonan_syndrome|not_provided|Fibromatosis,_gingival,_1|Noonan_syndrome_4|not_specified|Cardiovascular_phenotype|Noonan_syndrome_and_Noonan-related_syndrome|RASopathy	MONDO:MONDO:0018997,MeSH:D009634,MedGen:C0028326,OMIM:PS163950,Orphanet:648|MedGen:C3661900|MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.438	0.086819344424	0.0002	0.000199681	8.244e-05	0	0.0002	0	0	0.0001	0	6.057e-05	7.12e-05	11	154602	rs371408734	8.347e-05	8.345e-05	8.304e-05	8.389e-05	0.0005	7.137e-05	6.685e-05	0.0001	7.546e-05	8.967e-05	6.712e-05	0	2.519e-05	3.745e-05	0.0005	8.814e-05	8.281e-05	8.116e-05	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.721e-05	0.0003	0.0002	0.0002	0	0	0	0	0	0	0.0002	0	0.0008	0.0	0.91255	D	0.09	0.40267	T	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.84330	D	0.055972	1	0.81001	D	2.215	0.62545	M	-1.0	0.79944	T	-2.91	0.66325	D	0.278	0.40264	0.181	0.85591	D	0.635	0.87211	D	10	0.18823591	0.34369	T	0.086819	0.74813	D	0.438	0.74235	.	.	0.646203778028	0.64327	0.23186219116492843	0.23101	0.480892332608	0.47098	0.701085925102	0.67300	T	0.779791	0.94176	D	-0.0357518	0.46578	T	-0.0737964	0.65354	T	0.179367551205944	0.19195	T	0.925407	0.72589	D	0.36734417	0.58388	0.46852204	0.69172	0.36734417	0.58388	0.46852204	0.69172	-5.326	0.40200	T	0.2330895937437511	0.31551	0.090	0.12418	B	.;.;.	.;.;.	4.257812	0.64686	24.7	0.98714088217045992	0.45098	0.99783	0.99435	D	AEFGBI	0.852054	0.76895	D	0.828825055297701	0.87870	9.370679	0.842019994615971	0.92541	11.48647	0.99999999997398	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	8.812000	0.91581	10.039000	0.83181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.059	0.97662	459	0.78817	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1191.43	100	chr2	38986117	.	G	C	1191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.911;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.921;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	9	0	1	0
chr2	38997327	38997327	C	T	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382394:exon18:c.G2869A:p.V957I,SOS1:NM_001382395:exon18:c.G2890A:p.V964I,SOS1:NM_005633:exon18:c.G2890A:p.V964I	Noonan syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0135108109383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.095	0.39492	T	0.787	0.44504	P	0.916	0.65201	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	1.82	0.25018	T	-0.85	0.24244	N	0.485	0.54059	-1.0958	0.04639	T	0.110	0.39556	T	10	0.35869408	0.52556	T	0.013511	0.32968	T	0.216	0.50959	0.393	0.41770	0.541174676907	0.53770	0.542136211890831	0.54138	1.37415804152	0.84606	0.711332380772	0.68786	T	0.421525	0.77289	T	-0.0405982	0.45861	T	-0.296093	0.45134	T	0.887475550174713	0.53797	D	0.984602	0.94707	D	0.40846905	0.61314	0.3602564	0.61470	0.40846905	0.61315	0.3602564	0.61470	-12.23	0.85953	D	0.2880772582000029	0.38431	0.554	0.69763	A	.;.;.	.;.;.	4.638914	0.73833	26.1	0.99856975094989064	0.93548	0.98796	0.86965	D	AEFBI	0.837856	0.75544	D	0.562209593713705	0.70828	5.559305	0.648864023752546	0.78527	6.89403	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.635259	0.50027	0	.	.	5.9	5.9	0.94952	7.410000	0.79281	6.029000	0.52897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.282	0.98522	471	0.78036	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1872.43	50	chr2	38997327	.	C	T	1872.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=523;ExcessHet=0;FS=5.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.028;SOR=0.872	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr2	39288141	39288141	G	C	exonic	MAP4K3	.	nonsynonymous SNV	MAP4K3:NM_001270425:exon19:c.C1391G:p.P464R,MAP4K3:NM_003618:exon20:c.C1454G:p.P485R	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00654478571271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886533908	7.525e-06	7.524e-06	4.084e-06	1.1e-05	8.116e-05	4.04e-06	2.95e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	6.623e-05	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24661	T	0.168	0.30631	T	0.0	0.30086	B	0.0	0.32546	B	0.000001	0.84330	D	0.055749	1	0.81001	D	2.65	0.77586	M	2.18	0.18875	T	-1.25	0.35194	N	0.374	0.47301	-1.0796	0.07426	T	0.043	0.18701	T	10	0.1397121	0.26562	T	0.006545	0.17243	T	0.064	0.18567	0.271	0.22052	0.275349458131	0.27150	0.2661358171578992	0.26526	0.122480938895	0.13800	0.507221341133	0.39834	T	0.143973	0.48035	T	-0.161918	0.26466	T	-0.373506	0.36479	T	0.28841155270859	0.24523	T	0.947905	0.79907	D	0.12130287	0.28527	0.1606548	0.37409	0.12130287	0.28527	0.1606548	0.37408	-8.29	0.63048	D	.	.	0.157	0.39982	B	.;.;.	.;.;.	3.598026	0.50803	23.0	0.98577564088901926	0.43193	0.97315	0.73978	D	AEFBI	0.674719	0.64035	D	-0.0267879387354732	0.40646	2.417321	0.180731113663803	0.48792	3.090427	0.999999975000407	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	4.681000	0.61353	9.925000	0.82535	0.507000	0.23093	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	19.946	0.97184	416	0.81733	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	429.43	34	chr2	39288141	.	G	C	429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.793;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.551;SOR=0.752	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1152	9	0	1	0
chr2	43398139	43398139	C	A	exonic	THADA	.	nonsynonymous SNV	THADA:NM_001083953:exon29:c.G4059T:p.R1353S,THADA:NM_001345923:exon29:c.G4056T:p.R1352S,THADA:NM_001345924:exon29:c.G3936T:p.R1312S,THADA:NM_022065:exon29:c.G4059T:p.R1353S,THADA:NM_001345925:exon30:c.G4059T:p.R1353S	.	424	1078	19	1	0	21	0.0096463	0.4170	0.408	.	697569	not_provided|THADA-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.143	.	0.0043	0.00638978	0.0072	0.0013	0.0014	0.0001	0.0068	0.0054	0.0078	0.0264	0.0066687	1031	154602	rs56269749	0.0069	0.0069	0.0062	0.0075	0.0249	0.0067	0.0067	0.0240	0.0236	0.0010	0.0013	0.0034	0.0004	0.0055	0.0057	0.0063	0.0057	0.0249	0.0046	0.0046	0.0043	0.0049	0.0251	0.0043	0.0042	0.0215	0.0201	0.0011	0	0.0036	0.0046	0.0002	0.0043	0	0.0059	0.0038	0.0251	0.004	0.65419	D	0.076	0.42614	T	0.219	0.30243	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.997164	0.81001	D	2.315	0.66250	M	-0.06	0.63568	T	-2.65	0.56787	D	0.63	0.64393	-0.8032	0.54956	T	0.206	0.56444	T	10	0.012718201	0.00272	T	0.057885	0.67124	D	0.274	0.59007	0.529	0.63560	0.0920862733494	0.08535	0.6495077970633159	0.64886	.	.	0.485346436501	0.36794	T	0.108598	0.42176	T	-0.17196	0.24937	T	-0.000188116	0.70324	D	0.0516185747774757	0.05782	T	0.893211	0.63049	D	0.5609524	0.70562	0.3468483	0.60347	0.5609524	0.70563	0.3468483	0.60347	-7.898	0.60373	D	.	.	0.503	0.64966	A	.;.	.;.	2.706825	0.35375	19.88	0.99550026622811405	0.71086	0.66201	0.32996	D	AEFBCI	0.392031	0.47024	N	-0.440631999455511	0.24058	1.296417	-0.388287231909239	0.25345	1.393255	0.999467665782589	0.39843	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.41	1.09	0.19517	0.094000	0.14946	-0.472000	0.08972	-0.181000	0.10308	0.987000	0.36337	0.058000	0.21979	0.955000	0.50612	0.0:0.516:0.0:0.484	8.380	0.31627	927	0.17636	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006067	0.005102	0.004076	0.008772	0.000000	0.000000	0.003086	0.018939	0.05	724.43	57	chr2	43398139	.	C	A	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.985;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.616;SOR=0.571	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	9	0	1	0
chr2	43574474	43574474	G	C	exonic	THADA	.	nonsynonymous SNV	THADA:NM_001083953:exon11:c.C1591G:p.L531V,THADA:NM_001271643:exon11:c.C1591G:p.L531V,THADA:NM_001271644:exon11:c.C1591G:p.L531V,THADA:NM_001345923:exon11:c.C1591G:p.L531V,THADA:NM_001345924:exon11:c.C1471G:p.L491V,THADA:NM_022065:exon11:c.C1591G:p.L531V,THADA:NM_001345925:exon12:c.C1591G:p.L531V	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	.	0.0002	0.00279553	0.0022	0	0.0002	0	0	0.0002	0.0012	0.0146	0.0017594	272	154602	rs201592210	0.0011	0.0011	0.0006	0.0015	0.0151	0.0010	0.0010	0.0145	0.0142	2.987e-05	0.0002	0	0	0	0.0009	0.0002	0.0011	0.0151	0.0006	0.0006	0.0005	0.0007	0.0143	0.0005	0.0004	0.0116	0.0106	4.813e-05	0	6.536e-05	0	0	0	0.0102	0.0002	0.0005	0.0143	0.008	0.91255	D	0.018	0.92824	D	0.999	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.999731	0.48635	D	2.65	0.77586	M	1.24	0.68474	T	-2.06	0.51157	N	0.617	0.71942	-0.0749	0.80667	T	0.495	0.80840	T	10	0.004176259	0.00083	T	.	.	.	0.302	0.62290	.	.	0.487348339145	0.48367	0.4481330787601541	0.44731	.	.	0.460464268923	0.33375	T	0.022522	0.35049	T	-0.152979	0.27845	T	0.0198042	0.71617	D	0.0728186114367229	0.09042	T	0.933907	0.75239	D	0.3528086	0.57284	0.33974877	0.59736	0.3528086	0.57284	0.33974877	0.59736	-8.792	0.66348	D	.	.	0.278	0.53214	B	.;.;.;.;.	.;.;.;.;.	4.506969	0.70541	25.5	0.99850857536313498	0.93013	0.99311	0.94324	D	AEFBI	0.859689	0.77741	D	0.826195839115585	0.87713	9.314701	0.823421429889501	0.91371	10.85346	0.999999999591199	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	7.598000	0.82000	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	20.359	0.98850	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1629.43	33	chr2	43574474	.	G	C	1629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.964;DP=447;ExcessHet=0;FS=2.205;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=-1.097;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	9	0	1	0
chr2	43814512	43814512	A	G	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon12:c.T1727C:p.V576A	Sitosterolemia, Autosomal recessive	0	224	2	0	0	2	0.00444444	.	.	.	1831471	Cardiovascular_phenotype|Sitosterolemia_2	MedGen:CN230736|MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.0214091901661	.	.	0.0001	0	0	0	0	3.009e-05	0	0.0007	8.41e-05	13	154602	rs757537317	4.806e-05	4.788e-05	2.187e-05	7.449e-05	0.0007	3.874e-05	3.553e-05	0.0005	0.0005	0	0	0	0	0	0.0002	9.029e-06	4.981e-05	0.0007	3.941e-05	3.94e-05	3.853e-05	4.034e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.985e-05	0	0	6.542e-05	0	0	0	0	2.94e-05	0	0.0006	0.294	0.14793	T	0.003	0.76473	D	0.22	0.30288	B	0.06	0.26717	B	0.723889	0.09912	N	0.871644	0.932395	0.37020	D	1.7	0.43825	L	-0.62	0.71895	T	-1.24	0.31375	N	0.15	0.15328	-0.8446	0.52338	T	0.226	0.59032	T	10	0.14068514	0.26740	T	0.021409	0.44174	T	0.214	0.50650	.	.	0.714975409369	0.71247	0.671270286764992	0.67065	0.0846513009149	0.09566	0.279658198357	0.07445	T	0.314632	0.68630	T	-0.262973	0.12554	T	-0.263801	0.48443	T	0.122982457280159	0.14719	T	0.547145	0.18749	T	0.32402563	0.54977	0.1514972	0.35685	0.32402563	0.54977	0.1514972	0.35684	-4.649	0.32781	T	.	.	0.201	0.42520	B	.;.	.;.	3.233267	0.44098	21.9	0.99817172106228702	0.90061	0.94876	0.62637	D	AEFIJ	0.863110	0.78157	D	-0.137086831183529	0.35786	2.059967	0.02683452153434	0.40965	2.453319	0.994708951448747	0.33762	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.22	5.22	0.72285	6.075000	0.70893	8.021000	0.76231	0.756000	0.94297	0.635000	0.28042	0.998000	0.33993	0.951000	0.49849	1.0:0.0:0.0:0.0	14.944	0.70669	650	0.62973	ABC-2 type transporter;ABC-2 type transporter	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1688.43	160	chr2	43814512	.	A	G	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.695;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.71;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1114	9	0	1	0
chr2	43977258	43977258	C	A	exonic	LRPPRC	.	nonsynonymous SNV	LRPPRC:NM_133259:exon4:c.G488T:p.S163I	Leigh syndrome, French-Canadian type, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.0818317567658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.825	0.82220	M	0.43	0.64818	T	-4.67	0.86608	D	0.815	0.86725	-0.2992	0.75007	T	0.448	0.78342	T	10	0.7429193	0.75085	D	0.081832	0.73768	D	0.464	0.76023	0.484	0.56621	0.815112173069	0.81336	0.5658554416504331	0.56513	0.169403317685	0.19092	0.645527660847	0.59350	T	0.627874	0.88427	D	0.35558	0.86911	D	0.272989	0.86741	D	0.997137188911438	0.90849	D	0.948405	0.85476	D	0.7689559	0.81985	0.658335	0.79988	0.7689559	0.81987	0.658335	0.79989	-14.461	0.94458	D	0.8086371406528	0.88403	0.916	0.84672	P	.;.;.;.	.;.;.;.	4.938684	0.81482	27.6	0.99487055126568869	0.67235	0.98647	0.85104	D	AEFGBI	0.682359	0.64540	D	0.701844318046965	0.79753	7.144766	0.679316723196351	0.80810	7.382656	0.999999999998739	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.25	5.25	0.73169	6.102000	0.71139	7.697000	0.66086	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.213	0.93753	704	0.57414	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	574.43	34	chr2	43977258	.	C	A	574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.085;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.12;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	9	0	1	0
chr2	47060786	47060786	C	A	exonic	TTC7A	.	nonsynonymous SNV	TTC7A:NM_001288955:exon18:c.C1108A:p.Q370K,TTC7A:NM_020458:exon19:c.C2170A:p.Q724K,TTC7A:NM_001288951:exon20:c.C2242A:p.Q748K,TTC7A:NM_001288953:exon20:c.C2068A:p.Q690K	Gastrointestinal defects and immunodeficiency syndrome, Autosomal recessive	433	1081	8	0	0	8	0.00368664	.	.	.	518290	Multiple_gastrointestinal_atresias|not_provided	MONDO:MONDO:0009465,MedGen:C0220744,Orphanet:2300|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.147	0.0172749033905	0.0050	0.00259585	0.0050	0.0015	0.0026	0	0.0014	0.0064	0.0046	0.0076	0.0050323	778	154602	rs140166160	0.0071	0.0071	0.0072	0.0071	0.0082	0.0070	0.0070	0.0081	0.0080	0.0012	0.0037	0.0017	5.049e-05	0.0009	0.0014	0.0082	0.0065	0.0069	0.0045	0.0045	0.0044	0.0046	0.0072	0.0042	0.0041	0.0067	0.0065	0.0018	0	0.0051	0.0006	0	0.0006	0	0.0072	0.0028	0.0056	0.203	0.20154	T	0.607	0.07842	T	0.115	0.28995	B	0.138	0.33406	B	0.023132	0.26501	N	0.435749	0.920446	0.27803	N	1.39	0.34934	L	-0.8	0.73845	T	-1.17	0.29933	N	0.256	0.33904	-0.6438	0.62983	T	0.232	0.59855	T	10	0.004559338	0.00095	T	0.017275	0.38914	T	0.147	0.38986	.	.	0.81322328491	0.81147	0.3987006147637663	0.39785	0.0782521929742	0.08805	0.437471330166	0.30232	T	0.068697	0.33522	T	-0.348809	0.04802	T	-0.263428	0.48482	T	0.00817628925161954	0.00098	T	0.89811	0.64401	D	0.107838996	0.25498	0.093952246	0.22216	0.112687364	0.26620	0.107378416	0.25848	-8.714	0.65837	D	0.6792277297159163	0.75540	0.131	0.39511	B	.;.;.	.;.;.	3.168192	0.42956	21.6	0.92831952960810604	0.22364	0.81109	0.40583	D	AEFGBCI	0.252822	0.37243	N	0.0385814017361566	0.43617	2.651236	0.214364165804608	0.50644	3.254331	0.999999438103932	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	1.216000	0.32046	7.617000	0.62147	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.0:0.9256:0.0:0.0744	12.944	0.57759	909	0.22467	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.012195	0.000000	0.05	508.43	34	chr2	47060786	.	C	A	508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.377;DP=344;ExcessHet=0;FS=8.205;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=1.01;SOR=2.207	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	9	0	1	0
chr2	47800616	47800616	T	C	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon2:c.T2243C:p.V748A,MSH6:NM_001281493:exon3:c.T1727C:p.V576A,MSH6:NM_000179:exon4:c.T2633C:p.V878A,MSH6:NM_001281494:exon4:c.T1727C:p.V576A	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	0	1484	37	1	0	39	0.0129697	.	.	YES	23970	Hereditary_cancer-predisposing_syndrome|Colorectal_/_endometrial_cancer|Breast_and/or_ovarian_cancer|Lynch_syndrome|not_specified|Mismatch_repair_cancer_syndrome_3|Endometrial_carcinoma|Lynch_syndrome_5|not_provided|Hereditary_nonpolyposis_colorectal_neoplasms|Carcinoma_of_colon|Malignant_tumor_of_breast	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221548|MedGen:CN221562|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MedGen:CN169374|MONDO:MONDO:0030841,MedGen:C5436807,OMIM:619097|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MedGen:C3661900|MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0007254,MedGen:C0006142	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.155	.	0.0055	0.00399361	0.0053	0.0011	0.0019	0.0001	0.0003	0.0074	0.0055	0.0064	0.0053039	820	154602	rs2020912	0.0059	0.0059	0.0057	0.0061	0.0170	0.0058	0.0057	0.0143	0.0133	0.0008	0.0034	0.0100	5.038e-05	0.0007	0.0170	0.0064	0.0052	0.0065	0.0046	0.0046	0.0046	0.0047	0.0073	0.0043	0.0042	0.0066	0.0064	0.0008	0.0022	0.0073	0.0069	0	0.0007	0	0.0071	0.0066	0.0052	0.338	0.14645	T	0.478	0.18178	T	0.036	0.20732	B	0.026	0.20792	B	0.003501	0.34847	N	0.308092	2.5814e-05	0.20667	A	1.105	0.28596	L	-2.7	0.90509	D	-1.19	0.30346	N	0.172	0.18920	-0.3685	0.73007	T	0.421	0.76616	T	9	0.035881698	0.01858	T	.	.	.	0.155	0.40530	.	.	0.853631389444	0.85222	0.4509105311589898	0.45009	.	.	0.397578775883	0.24733	T	0.410047	0.76490	T	-0.334646	0.05767	T	-0.249047	0.49909	T	0.00170501993543491	0.00017	T	0.751525	0.37371	T	0.26617947	0.49687	0.09885118	0.23582	0.28716815	0.51729	0.11148119	0.26890	-3.425	0.15395	T	0.0878413940063621	0.05203	0.067	0.05060	B	.;.;.;.;.	.;.;.;.;.	0.764925	0.11347	7.965	0.7259771545986986	0.10029	0.52323	0.29104	D	AEFBCI	0.104344	0.20880	N	-0.873356904237767	0.11479	0.5541805	-0.862848901577208	0.12979	0.6707646	0.993847780497258	0.33379	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	1.99	0.25423	0.373000	0.20215	1.239000	0.25094	0.609000	0.47794	0.000000	0.06391	0.929000	0.28499	0.606000	0.31539	0.0:0.2974:0.0:0.7026	8.107	0.30053	905	0.23532	.;.;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;DNA mismatch repair protein MutS, core|DNA mismatch repair protein MutS, core;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012085	0.000000	0.012228	0.014620	0.000000	0.034483	0.015244	0.015152	0.05	1363.43	34	chr2	47800616	.	T	C	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=543;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=1.26;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	47804959	47804959	A	T	exonic	MSH6	.	nonsynonymous SNV	MSH6:NM_001281492:exon4:c.A3098T:p.E1033V,MSH6:NM_001281493:exon5:c.A2582T:p.E861V,MSH6:NM_000179:exon6:c.A3488T:p.E1163V,MSH6:NM_001281494:exon6:c.A2582T:p.E861V	Colorectal cancer, hereditary nonpolyposis, type 5, Autosomal dominant;Endometrial cancer, familial;Mismatch repair cancer syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	94874	not_specified|Breast_and/or_ovarian_cancer|Hereditary_cancer-predisposing_syndrome|Carcinoma_of_colon|Lynch_syndrome_5|Hereditary_nonpolyposis_colorectal_neoplasms|not_provided|Lynch_syndrome	MedGen:CN169374|MedGen:CN221562|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0002032,MedGen:C0699790|MONDO:MONDO:0013710,MedGen:C1833477,OMIM:614350,Orphanet:144|MeSH:D003123,MedGen:C0009405|MedGen:C3661900|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.840	.	.	0.00279553	0.0012	0	8.667e-05	0.0138	0	7.496e-05	0.0022	0.0010	0.0010802	167	154602	rs63750252	0.0004	0.0004	0.0004	0.0004	0.0103	0.0004	0.0003	0.0095	0.0092	0	0	0	0.0103	0	0.0005	4.766e-05	0.0004	0.0009	0.0005	0.0005	0.0005	0.0006	0.0123	0.0004	0.0004	0.0099	0.0090	0	0	0	0	0.0123	0	0	8.819e-05	0.0009	0.0010	0.022	0.51853	D	0.153	0.42976	T	0.571	0.38591	P	0.403	0.44588	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.745	0.80253	M	-2.12	0.86283	D	-3.98	0.73788	D	0.86	0.87590	0.129	0.84689	D	0.510	0.81599	D	10	0.013140768	0.00280	T	.	.	.	0.840	0.94989	.	.	0.924306082134	0.92354	0.9243824648130101	0.92415	.	.	0.533389091492	0.43513	T	0.319181	0.94555	T	0.084892	0.62607	D	0.359553	0.90685	D	0.135960689671526	0.15922	T	0.938606	0.76932	D	0.6837103	0.77170	0.39562547	0.64225	0.63388646	0.74507	0.48408118	0.70134	-7.78	0.59561	D	0.4023925418249253	0.49400	0.209	0.53686	B	.;.;.;.;.	.;.;.;.;.	4.473484	0.69731	25.4	0.99353589842072743	0.60697	0.97612	0.75899	D	AEFBCI	0.932207	0.92221	D	0.493220521004645	0.66693	4.983205	0.535176624860856	0.70373	5.495659	0.999999923858194	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	5.23	0.72570	8.923000	0.92370	11.224000	0.89870	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.123	0.72137	911	0.21964	.;.;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;DNA mismatch repair protein MutS, C-terminal|DNA mismatch repair protein MutS, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1678.43	131	chr2	47804959	.	A	T	1678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.829;DP=449;ExcessHet=0;FS=1.382;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.802;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	9	0	1	0
chr2	47905551	47905551	-	GCT	exonic	FBXO11	.	nonframeshift insertion	FBXO11:NM_001190274:exon1:c.169_170insAGC:p.Q56_P57insQ	.	.	.	.	.	.	.	.	.	.	.	963527	Intellectual_disability|FBXO11-related_disorder|not_provided|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0137	0	0	0	0	0.0109	0	0.0161	0.0023052	60	26028	rs757840201	0.0104	0.0087	0.0105	0.0102	0.0110	0.0102	0.0102	0.0108	0.0107	0.0064	0.0048	0.0206	0.0019	0.0031	0.0059	0.0110	0.0107	0.0029	0.0073	0.0072	0.0078	0.0067	0.0095	0.0069	0.0068	0.0089	0.0086	0.0058	0.0155	0.0036	0.0238	0.0027	0.0018	0	0.0095	0.0058	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	684.39	28	chr2	47905551	.	G	GGCT	684.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.782;DP=246;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=25.35;ReadPosRankSum=0.425;SOR=0.551	GT:AD:DP:GQ:PL	0/0:23,0:23:69:0,69,656	9	0	1	0
chr2	48580986	48580986	G	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.G353T:p.G118V,STON1-GTF2A1L:NM_001198593:exon2:c.G353T:p.G118V,STON1:NM_006873:exon2:c.G353T:p.G118V,STON1-GTF2A1L:NM_172311:exon2:c.G353T:p.G118V,STON1:NM_001198595:exon3:c.G353T:p.G118V	.	432	1026	62	2	0	66	0.0311615	.	.	.	733507	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.030	.	0.0026	0.00778754	0.0054	0.0013	0.0018	0.0001	0.0003	0.0040	0.0037	0.0300	0.0054851	848	154602	rs72824125	0.0049	0.0050	0.0044	0.0055	0.0274	0.0048	0.0048	0.0265	0.0261	0.0008	0.0021	0.0022	7.622e-05	0.0006	0.0149	0.0039	0.0057	0.0274	0.0040	0.0040	0.0036	0.0044	0.0297	0.0037	0.0036	0.0257	0.0242	0.0009	0	0.0058	0.0040	0	0.0003	0.0034	0.0044	0.0104	0.0297	0.002	0.78490	D	0.019	0.62352	D	0.679	0.50421	P	0.186	0.50118	B	0.073959	0.21314	N	0.440845	0.999999	0.08975	N	2.555	0.74557	M	2.67	0.12988	T	-2.11	0.48020	N	0.281	0.31925	-1.1121	0.02895	T	0.051	0.21806	T	10	0.004071653	0.00080	T	.	.	.	0.030	0.07022	.	.	0.461583377977	0.45782	0.30531859660048793	0.32329	0.00635658170257	0.00556	0.266003608704	0.05627	T	0.074824	0.35030	T	-0.530244	0.00383	T	-0.513485	0.20957	T	0.0225075360226289	0.00965	T	0.720328	0.33319	T	0.057194978	0.11353	0.089182906	0.20839	0.057194978	0.11352	0.089182906	0.20839	-2.982	0.09988	T	0.335890859238464	0.43380	0.098	0.26978	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.091475	0.04949	1.519	0.98612776587068196	0.43664	0.28104	0.23462	N	AEFBI	0.125934	0.24266	N	-0.309415810970022	0.28789	1.590911	-0.495834929041824	0.22269	1.20867	0.00737552665866971	0.11451	0.706548	0.73137	0	0.610034	0.51514	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.81	1.94	0.25058	0.279000	0.18532	0.831000	0.21948	0.665000	0.62972	0.005000	0.17040	0.853000	0.27411	0.112000	0.18829	0.0748:0.2703:0.655:0.0	9.474	0.38027	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020725	0.005051	0.025815	0.020979	0.100000	0.034483	0.006098	0.030303	0.05	2187.43	33	chr2	48580986	.	G	T	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.842;DP=895;ExcessHet=0;FS=3;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.517;SOR=0.893	GT:AD:DP:GQ:PL	0/1:138,96:234:99:2199,0,3462	9	0	1	0
chr2	54643117	54643117	C	A	exonic	SPTBN1	.	nonsynonymous SNV	SPTBN1:NM_178313:exon18:c.C3954A:p.D1318E,SPTBN1:NM_003128:exon19:c.C3993A:p.D1331E	.	431	1088	3	0	0	3	0.00137678	.	.	.	2815786	not_provided|SPTBN1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.00242180867171	0.0042	0.000798722	0.0036	0.0010	0.0015	0	0.0029	0.0056	0.0044	0.0007	0.0036934	571	154602	rs144815582	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0052	0.0060	0.0059	0.0007	0.0020	0.0077	2.519e-05	0.0048	0.0017	0.0061	0.0054	0.0010	0.0042	0.0042	0.0047	0.0037	0.0069	0.0040	0.0038	0.0064	0.0062	0.0009	0.0362	0.0018	0.0081	0	0.0035	0	0.0069	0.0028	0.0010	0.687	0.04340	T	0.956	0.03399	T	0.0	0.09854	B	0.009	0.16012	B	0.000076	0.52346	D	0.196913	0.957819	0.38043	D	0.18	0.09070	N	1.4	0.33630	T	-0.5	0.17210	N	0.133	0.12913	-1.0680	0.09858	T	0.042	0.18035	T	10	0.009002894	0.00204	T	0.002422	0.04757	T	0.053	0.14996	0.346	0.34112	0.436739265542	0.43292	0.3682441680426455	0.36738	0.817318788461	0.66998	0.399248808622	0.24963	T	0.312995	0.68477	T	-0.572155	0.00215	T	-0.587389	0.13893	T	0.0125999643201656	0.00210	T	0.782022	0.41734	T	0.10338055	0.24434	0.084004246	0.19293	0.10338055	0.24434	0.084004246	0.19293	-2.2	0.05600	T	.	.	0.114	0.25429	B	.;.;.	.;.;.	2.748004	0.36012	20.1	0.54165806149982321	0.05083	0.96321	0.68567	D	AEFBI	0.543016	0.55852	D	-0.227099513551954	0.32024	1.801788	0.00450927799252095	0.39925	2.374617	0.999998095312445	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	1.342000	0.33524	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8581:0.1419:0.0	16.199	0.81876	781	0.47532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002026	0.005102	0.002725	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	3007.12	34	chr2	54643117	.	C	A	3007.12	.	AC=2;AF=0.1;AN=20;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.33;SOR=1.661	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1165	9	1	0	0
chr2	54853805	54853805	G	C	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon10:c.G1607C:p.G536A	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.00156392496972	.	0.000798722	0.0022	0	0	0	0	0	0	0.0061	0.0003363	52	154602	rs115858517	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0.0002	2.781e-06	0.0003	0.0050	0.0001	0.0001	2.57e-05	0.0002	0.0035	7.573e-05	6.278e-05	0.0022	0.0018	2.406e-05	0	0	0	0	0	0	0	0	0.0035	0.414	0.10020	T	0.236	0.24694	T	0.328	0.33195	B	0.162	0.34839	B	0.021058	0.26911	U	0.000000	0.999998	0.58761	D	0.84	0.21119	L	0.8	0.48769	T	-3.2	0.64710	D	0.617	0.63289	-1.0519	0.13872	T	0.097	0.36315	T	10	0.011818379	0.00257	T	0.001564	0.02471	T	0.332	0.65424	.	.	0.521384976177	0.51782	0.7742563620733262	0.77375	0.269192573069	0.29436	0.809107363224	0.83356	D	0.17385	0.52286	T	-0.129781	0.31530	T	0.0416172	0.73033	D	0.0753021396315627	0.09376	T	0.892211	0.62852	D	0.22933316	0.45669	0.29600555	0.55633	0.22933316	0.45669	0.29600555	0.55632	-3.804	0.20864	T	.	.	0.159	0.35140	B	.	.	3.073840	0.41330	21.3	0.93672203729906467	0.23567	0.98338	0.81774	D	AEFDIJ	0.796654	0.72372	D	0.0645268760426372	0.44813	2.748601	0.2572174020719	0.53062	3.477027	0.999999999645701	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.77	5.77	0.91077	6.313000	0.72809	11.807000	0.96822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	20.001	0.97407	320	0.86992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	767.43	34	chr2	54853805	.	G	C	767.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.755;DP=366;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.82;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,913	9	0	1	0
chr2	54916834	54916834	G	A	exonic	EML6	.	nonsynonymous SNV	EML6:NM_001039753:exon25:c.G3574A:p.D1192N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00809895201272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs972657970	2.86e-06	3.42e-06	1.411e-06	4.35e-06	3.71e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.71e-06	0	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.124	0.27426	T	0.152	0.32249	T	0.527	0.37646	P	0.085	0.29395	B	.	.	.	.	0.981977	0.24999	N	2.42	0.70002	M	1.05	0.39990	T	-3.12	0.63782	D	0.498	0.53093	-0.9576	0.39626	T	0.126	0.43174	T	9	0.30109063	0.47653	T	0.008099	0.21470	T	0.167	0.42761	.	.	0.260735089382	0.25697	0.5884515333812768	0.58775	0.279803791515	0.30462	0.610818505287	0.54431	T	0.20582	0.56499	T	-0.194347	0.21623	T	-0.516942	0.20605	T	0.936214983463287	0.60504	D	0.865513	0.56452	D	0.18147194	0.39319	0.23908198	0.49247	0.18147194	0.39318	0.23908198	0.49246	-10.177	0.74964	D	.	.	0.106	0.19720	B	.	.	3.670722	0.52193	23.2	0.9980107959391703	0.88550	0.95983	0.67006	D	AEFBI	0.341852	0.43820	N	0.00988720103454968	0.42303	2.546404	0.0333368361447947	0.41274	2.476889	0.536714700807623	0.21219	0.549168	0.22868	0	0.55458	0.17659	0	0.618467	0.43123	0	0.616125	0.45549	0	.	.	5.68	4.8	0.61157	6.629000	0.74129	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.450000	0.27895	0.0:0.1263:0.8737:0.0	17.144	0.86640	467	0.78285	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1219.43	33	chr2	54916834	.	G	A	1219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=413;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.082;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	55254736	55254736	C	G	exonic	MTIF2	.	nonsynonymous SNV	MTIF2:NM_001321004:exon5:c.G421C:p.V141L,MTIF2:NM_001321001:exon6:c.G421C:p.V141L,MTIF2:NM_001321002:exon6:c.G421C:p.V141L,MTIF2:NM_002453:exon6:c.G421C:p.V141L,MTIF2:NM_001005369:exon7:c.G421C:p.V141L,MTIF2:NM_001321003:exon7:c.G421C:p.V141L	.	452	1067	3	0	0	3	0.00140384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0145398821229	7.7e-05	0.000399361	0.0003	0	8.655e-05	0	0	4.502e-05	0.0022	0.0015	0.0002135	33	154602	rs368244847	0.0001	0.0001	7.366e-05	0.0002	0.0016	0.0001	9.786e-05	0.0013	0.0012	0	0	0	0	0	0.0016	2.251e-05	0.0001	0.0015	6.567e-05	6.562e-05	3.855e-05	9.402e-05	0.0012	3.515e-05	2.615e-05	0.0005	0.0004	2.406e-05	0	0	0	0	0	0	4.412e-05	0	0.0012	0.068	0.35726	T	0.107	0.37730	T	0.485	0.36856	P	0.133	0.33073	B	0.001164	0.39978	N	0.253448	0.978887	0.39506	D	2.625	0.76847	M	0.34	0.58176	T	-1.6	0.38540	N	0.364	0.40565	-0.9198	0.45581	T	0.138	0.45602	T	10	0.026729077	0.00833	T	0.01454	0.34724	T	0.077	0.22490	0.426	0.47185	0.660851695494	0.65801	0.42786537976533223	0.42703	0.0912430136936	0.10305	0.487287402153	0.37063	T	0.18712	0.54062	T	-0.334859	0.05753	T	-0.278405	0.46966	T	0.0778927836290839	0.09715	T	0.888711	0.61924	D	0.12702103	0.29735	0.10991487	0.26497	0.11431674	0.26990	0.11695301	0.28231	-6.216	0.48053	T	.	.	0.400	0.62806	A	.;.;.	.;.;.	3.427632	0.47621	22.5	0.99366370038758134	0.61240	0.97475	0.74988	D	AEFBI	0.595920	0.59029	D	0.115335306755615	0.47179	2.947181	0.206360729454173	0.50200	3.214575	0.684668546286875	0.22519	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	5.0	0.66209	4.021000	0.56907	3.242000	0.36972	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8025:0.0:0.1975	9.630	0.38936	391	0.83213	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1347.43	133	chr2	55254736	.	C	G	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.352;DP=447;ExcessHet=0;FS=5.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.066;SOR=0.37	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1084	9	0	1	0
chr2	58048935	58048935	T	C	exonic	VRK2	.	nonsynonymous SNV	VRK2:NM_001130480:exon2:c.T104C:p.I35T,VRK2:NM_001130481:exon2:c.T104C:p.I35T,VRK2:NM_001130482:exon2:c.T35C:p.I12T,VRK2:NM_001130483:exon2:c.T104C:p.I35T,VRK2:NM_006296:exon2:c.T104C:p.I35T,VRK2:NM_001288838:exon4:c.T104C:p.I35T,VRK2:NM_001288837:exon5:c.T104C:p.I35T	.	432	1059	31	0	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	.	0.0026	0.00319489	0.0049	0.0002	0.0005	0	0.0039	0.0038	0.0121	0.0177	0.0043466	672	154602	rs144870539	0.0037	0.0037	0.0030	0.0043	0.0179	0.0036	0.0035	0.0172	0.0169	0.0003	0.0011	0.0008	2.522e-05	0.0039	0.0118	0.0029	0.0039	0.0179	0.0028	0.0028	0.0025	0.0031	0.0160	0.0026	0.0025	0.0131	0.0120	0.0004	0	0.0027	0.0006	0.0002	0.0040	0.0068	0.0035	0.0014	0.0160	0.0	0.91255	D	0.001	0.83351	D	0.955	0.58077	P	0.823	0.70482	P	0.000000	0.84330	D	0.087751	0.999707	0.48408	D	4.675	0.99424	H	-0.54	0.70950	T	-4.43	0.79998	D	0.816	0.84609	0.691	0.93060	D	0.691	0.89342	D	10	0.013455421	0.00285	T	.	.	.	0.538	0.80664	.	.	0.912745004354	0.91186	0.8664656802548126	0.86611	0.108113305918	0.12188	0.538242340088	0.44198	T	0.350059	0.71782	T	-0.0795587	0.39787	T	0.127223	0.78711	D	0.116437750245254	0.14078	T	0.836416	0.61387	T	0.90567607	0.91895	0.781187	0.87102	0.90567607	0.91896	0.781187	0.87103	-9.921	0.81373	D	.	.	0.152	0.45990	B	.;.;.;.;.;.	.;.;.;.;.;.	4.442716	0.68994	25.3	0.99838950329381626	0.91972	0.90931	0.52533	D	AEFDBCI	0.698749	0.65632	D	0.929905970733908	0.93146	11.85038	0.849755546974797	0.93001	11.76317	0.99999999725518	0.74766	0.706298	0.61202	0	0.672317	0.65289	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	5.96	5.96	0.96695	5.175000	0.64857	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.0:1.0	14.999	0.71112	780	0.47616	.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	777.43	35	chr2	58048935	.	T	C	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.224;DP=388;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.204;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	9	0	1	0
chr2	61045729	61045729	G	C	exonic	PEX13	.	nonsynonymous SNV	PEX13:NM_002618:exon3:c.G791C:p.S264T	Peroxisome biogenesis disorder 11A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 11B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	193512	PEX13-related_disorder|not_provided|Peroxisome_biogenesis_disorder_11A_(Zellweger)	.|MedGen:C3661900|MONDO:MONDO:0013949,MedGen:C3554000,OMIM:614883,Orphanet:912	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0249497995652	0.0003	0.000199681	0.0002	0.0015	0.0003	0	0	0	0.0011	0	0.0001423	22	154602	rs145568490	5.957e-05	5.951e-05	6.404e-05	5.505e-05	0.0014	4.887e-05	4.565e-05	0.0011	0.0009	0.0014	0.0002	0	0	0	0.0007	1.53e-05	0.0002	0	0.0004	0.0004	0.0004	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0003	0	0	0	0.0136	4.409e-05	0.0005	0	0.51	0.07497	T	0.407	0.14679	T	0.0	0.02946	B	0.001	0.04355	B	0.082016	0.20833	N	0.563033	1	0.08975	N	1.225	0.30651	L	-1.11	0.77466	T	-0.82	0.22508	N	0.092	0.07125	-0.9644	0.38330	T	0.188	0.53901	T	10	0.0068106055	0.00155	T	0.02495	0.47933	T	0.138	0.37187	.	.	0.409937222855	0.40610	0.3614205378398695	0.36056	0.0773626685617	0.08700	0.29106721282	0.09077	T	0.421819	0.77310	T	-0.543574	0.00319	T	-0.594116	0.13311	T	0.00099904113068006	0.00010	T	0.476552	0.14308	T	0.033065986	0.03453	0.03140908	0.01725	0.033065986	0.03452	0.03140908	0.01724	-3.657	0.18685	T	0.13291093763723955	0.14214	0.064	0.01786	B	.	.	-0.014295	0.04185	1.014	0.49827828740230484	0.04278	0.03926	0.09316	N	AEFBI	0.065066	0.12669	N	-1.22635388024388	0.04621	0.2089341	-1.2172627269665	0.05632	0.2688999	0.999689508198384	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	-2.31	0.06380	-0.032000	0.12217	-0.802000	0.07370	-0.116000	0.14526	0.000000	0.06391	0.000000	0.08366	0.825000	0.38878	0.3869:0.1664:0.4468:0.0	7.686	0.27708	429	0.80881	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	760.43	33	chr2	61045729	.	G	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.609;DP=365;ExcessHet=0;FS=2.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-1.501;SOR=1.066	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	9	0	1	0
chr2	61311681	61311681	T	C	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon27:c.A3676G:p.I1226V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0124516661283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.428e-06	3.42e-06	4.092e-06	2.757e-06	4.501e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.501e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.027	0.55341	D	0.518	0.37483	P	0.456	0.46291	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.245	0.31408	L	3.69	0.04114	T	-0.75	0.21003	N	0.394	0.43514	-0.9188	0.45716	T	0.021	0.08686	T	10	0.30212247	0.47751	T	0.012452	0.31033	T	0.152	0.39956	0.367	0.37524	0.406687239423	0.40287	0.366161326622139	0.36530	.	.	0.775499463081	0.78249	T	0.034899	0.23505	T	-0.140132	0.29869	T	-0.439066	0.28912	T	0.914748013019562	0.57151	D	0.946205	0.79443	D	0.1526354	0.34638	0.13903384	0.33185	0.1526354	0.34638	0.13903384	0.33184	-3.696	0.19259	T	.	.	0.182	0.39579	B	.	.	4.306020	0.65784	24.9	0.99580032888227688	0.72921	0.98768	0.86602	D	AEFGBI	0.862548	0.78087	D	0.287391285643828	0.55507	3.714918	0.402896314042455	0.61747	4.379027	0.999995424664304	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.951000	0.87297	7.901000	0.73554	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.506	0.75472	201	0.92177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1687.43	40	chr2	61311681	.	T	C	1687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.158;DP=490;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.83;SOR=0.54	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1109	9	0	1	0
chr2	62222624	62222624	C	T	exonic	B3GNT2	.	nonsynonymous SNV	B3GNT2:NM_001319075:exon2:c.C404T:p.P135L,B3GNT2:NM_006577:exon2:c.C404T:p.P135L	.	.	.	.	.	.	.	.	.	.	.	2377244	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0224433264512	.	0.000199681	1.653e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs535480021	3.215e-05	3.215e-05	2.45e-05	3.988e-05	4.637e-05	2.478e-05	2.22e-05	2.828e-05	2.507e-05	0	0	0	0	0	0	3.777e-05	1.656e-05	4.637e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.024	0.47745	D	0.022	0.57587	D	0.053	0.22573	B	0.015	0.17295	B	0.000010	0.62929	D	0.150393	1	0.81001	D	2.62	0.76659	M	1.36	0.34452	T	-8.27	0.96930	D	0.182	0.19728	-0.9868	0.33396	T	0.087	0.33746	T	10	0.103655845	0.19067	T	0.022443	0.45329	T	0.123	0.34020	0.567	0.68901	0.296721761885	0.29290	0.9049076744405166	0.90463	0.461218712443	0.45668	0.460066586733	0.33319	T	0.643502	0.89096	D	-0.261963	0.12671	T	-0.411414	0.32063	T	0.906336843967438	0.56032	D	0.816918	0.47330	T	0.5942804	0.72382	0.3690296	0.62181	0.5942804	0.72383	0.3690296	0.62180	-7.516	0.57723	D	.	.	0.236	0.47128	B	.;.	.;.	3.184050	0.43231	21.7	0.99049511202027596	0.51207	0.89046	0.49281	D	AEFBCI	0.281055	0.39473	N	-0.0257052125072437	0.40695	2.42108	0.0815328344119464	0.43619	2.660043	0.999997413493928	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	2.82	0.32061	3.374000	0.52132	3.485000	0.38675	0.599000	0.40250	0.996000	0.39380	0.998000	0.33993	0.936000	0.47498	0.12:0.6988:0.116:0.0652	8.339	0.31394	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2120.43	36	chr2	62222624	.	C	T	2120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=503;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.349;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	9	0	1	0
chr2	64551713	64551713	G	A	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.G239A:p.S80N,AFTPH:NM_001375969:exon2:c.G239A:p.S80N,AFTPH:NM_001375970:exon2:c.G239A:p.S80N,AFTPH:NM_001375971:exon2:c.G239A:p.S80N,AFTPH:NM_001375972:exon2:c.G239A:p.S80N,AFTPH:NM_001375973:exon2:c.G239A:p.S80N,AFTPH:NM_017657:exon2:c.G239A:p.S80N,AFTPH:NM_203437:exon2:c.G239A:p.S80N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0172727490447	0.0004	0.000199681	0.0002	0.0017	0.0002	0	0	3e-05	0	0	0.0001552	24	154602	rs202065069	8.484e-05	8.482e-05	8.577e-05	8.391e-05	0.0025	7.21e-05	6.798e-05	0.0020	0.0019	0.0025	0.0002	0	0	0	0.0009	1.079e-05	0.0002	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0004	0.0016	0.0014	0.0019	0	0.0001	0	0	0	0.0034	2.941e-05	0.0014	0	0.003	0.68238	D	0.016	0.60972	D	0.996	0.68779	D	0.866	0.61580	P	0.000437	0.44522	D	0.205916	0.752549	0.29623	N	2.585	0.75554	M	1.36	0.34452	T	-0.8	0.22078	N	0.166	0.28498	-0.7363	0.58642	T	0.208	0.56662	T	10	0.022627383	0.00570	T	0.017273	0.38900	T	0.095	0.27398	.	.	0.392430962328	0.38859	0.10879067650289427	0.10808	0.338869975	0.35849	0.524053156376	0.42197	T	0.007923	0.07293	T	-0.489141	0.00657	T	-0.481561	0.24281	T	0.0326249894154693	0.02409	T	0.824218	0.48580	T	0.2954287	0.52492	0.24931799	0.50500	0.2954287	0.52492	0.24931799	0.50499	-4.129	0.25716	T	.	.	0.097	0.22282	B	.;.;.	.;.;.	2.996779	0.40031	21.1	0.99454825657901536	0.65479	0.83608	0.42714	D	AEFGBI	0.284003	0.39698	N	0.694638148025985	0.79280	7.044737	0.693510290848198	0.81884	7.632628	0.999980702452312	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	3.215000	0.50871	4.500000	0.43606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1721:0.8279:0.0	15.858	0.78786	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.008152	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1531.43	33	chr2	64551713	.	G	A	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.093;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.481;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1134	9	0	1	0
chr2	64553270	64553270	G	A	exonic	AFTPH	.	nonsynonymous SNV	AFTPH:NM_001002243:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375969:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375970:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375971:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375972:exon2:c.G1796A:p.R599Q,AFTPH:NM_001375973:exon2:c.G1796A:p.R599Q,AFTPH:NM_017657:exon2:c.G1796A:p.R599Q,AFTPH:NM_203437:exon2:c.G1796A:p.R599Q	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0105635573149	0.0012	0.000199681	0.0010	0.0002	0.0002	0	0.0003	0.0016	0	0.0004	0.0008991	139	154602	rs145180972	0.0012	0.0012	0.0012	0.0012	0.0047	0.0012	0.0011	0.0033	0.0028	0.0002	0.0010	0.0107	2.519e-05	9.361e-05	0.0047	0.0011	0.0017	0.0005	0.0010	0.0010	0.0009	0.0011	0.0030	0.0009	0.0008	0.0023	0.0021	0.0001	0	0.0030	0.0052	0	0.0003	0.0102	0.0011	0.0009	0.0004	0.151	0.24564	T	0.567	0.09588	T	0.999	0.77913	D	0.744	0.55835	P	0.000519	0.43753	D	0.143981	0.918307	0.27353	N	2.43	0.70455	M	1.89	0.23884	T	-0.36	0.13035	N	0.162	0.25867	-0.9407	0.42505	T	0.146	0.46967	T	10	0.0066280365	0.00150	T	0.010564	0.27238	T	0.106	0.30130	.	.	0.395439683604	0.39153	0.09268503856702141	0.09200	0.145550282508	0.16445	0.31736022234	0.13020	T	0.005785	0.05228	T	-0.390562	0.02668	T	-0.36917	0.36985	T	0.0419444429151859	0.04044	T	0.837516	0.51368	T	0.06829398	0.14865	0.066421665	0.13602	0.06829398	0.14865	0.066421665	0.13602	-2.131	0.03764	T	.	.	0.081	0.10256	B	.;.;.	.;.;.	3.608351	0.51007	23.0	0.99494756820086461	0.67687	0.94159	0.60291	D	AEFDBI	0.485845	0.52526	N	0.303078558336739	0.56307	3.795164	0.364641707865849	0.59393	4.116906	0.999957760131871	0.48110	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.01	5.13	0.69729	3.440000	0.52649	5.710000	0.49419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7339:0.2661	14.489	0.67220	788	0.46569	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.015152	0.004076	0.002924	0.100000	0.000000	0.000000	0.007576	0.05	1006.43	33	chr2	64553270	.	G	A	1006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=384;ExcessHet=0;FS=6.373;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.331;SOR=1.463	GT:AD:DP:GQ:PL	0/1:36,37:73:99:1018,0,837	9	0	1	0
chr2	67403239	67403239	G	C	exonic	ETAA1	.	nonsynonymous SNV	ETAA1:NM_019002:exon5:c.G557C:p.S186T	.	512	984	23	3	0	29	0.0145218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0006	0.000599042	0.0025	0	0.0008	0.0001	0.0002	0.0014	0.0077	0.0144	0.0002911	45	154602	rs201056460	0.0016	0.0016	0.0012	0.0019	0.0190	0.0015	0.0015	0.0160	0.0149	0.0003	0.0010	0.0037	5.083e-05	3.882e-05	0.0190	0.0008	0.0025	0.0120	0.0012	0.0012	0.0009	0.0014	0.0085	0.0010	0.0010	0.0064	0.0057	7.228e-05	0	0.0020	0.0040	0	0	0.0102	0.0012	0.0019	0.0085	0.009	0.57480	D	0.035	0.52389	D	0.01	0.15535	B	0.022	0.19653	B	0.005845	0.32460	N	0.352858	0.99806	0.22374	N	1.04	0.26193	L	2.16	0.19166	T	-1.3	0.32590	N	0.061	0.03283	-1.0206	0.23519	T	0.039	0.16763	T	10	0.0032284558	0.00055	T	.	.	.	0.027	0.05988	.	.	0.082315109003	0.07666	0.050468486461131404	0.04989	0.038995642377	0.04153	0.419647246599	0.27787	T	0.022452	0.17305	T	-0.624252	0.00104	T	-0.66151	0.08164	T	0.0128142455102638	0.00218	T	0.514149	0.16548	T	0.10648474	0.25179	0.11903876	0.28733	0.10648474	0.25178	0.11903876	0.28732	-4.154	0.26082	T	.	.	0.085	0.10352	B	.	.	1.547575	0.19836	14.46	0.94698218446344595	0.25348	0.78913	0.39008	D	AEFGBI	0.113732	0.22429	N	-0.428456259082109	0.24476	1.321859	-0.263942683120013	0.29295	1.640143	0.998497796866115	0.37071	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.16	2.16	0.26663	1.707000	0.37507	2.593000	0.33479	-0.046000	0.17342	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7377:0.0:0.2623:0.0	10.797	0.45668	948	0.11499	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012109	0.005102	0.004076	0.008772	0.000000	0.008772	0.030675	0.026515	0.05	280.43	36	chr2	67403239	.	G	C	280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.246;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.456;SOR=0.693	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,696	9	0	1	0
chr2	68513563	68513563	A	G	exonic	APLF	.	nonsynonymous SNV	APLF:NM_173545:exon5:c.A505G:p.N169D	.	433	1080	9	0	0	9	0.00414938	.	.	.	3289724	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00327466638672	0.0006	0.000399361	0.0006	0	0.0011	0	0	0.0006	0	0.0009	0.0004916	76	154602	rs145654399	0.0006	0.0006	0.0006	0.0006	0.0068	0.0005	0.0005	0.0051	0.0045	0	0.0009	0.0037	0	3.746e-05	0.0068	0.0005	0.0009	0.0009	0.0006	0.0006	0.0006	0.0006	0.0014	0.0005	0.0005	0.0009	0.0008	9.636e-05	0	0.0014	0.0035	0	0	0.0034	0.0007	0.0014	0.0004	0.836	0.02840	T	0.859	0.03418	T	0.039	0.21116	B	0.014	0.16862	B	0.915975	0.08520	N	0.966138	1	0.08975	N	-0.695	0.01866	N	2.01	0.21291	T	-0.64	0.18670	N	0.1	0.08227	-0.9601	0.39162	T	0.018	0.07234	T	10	0.0062438548	0.00141	T	0.003275	0.07237	T	0.008	0.00669	.	.	0.246773566709	0.24272	0.10513774435908821	0.10443	0.0435277124011	0.04688	0.293653845787	0.09458	T	0.025622	0.19125	T	-0.697356	0.00038	T	-0.824921	0.01356	T	0.00972487050076408	0.00127	T	0.626037	0.24205	T	0.044666413	0.07179	0.040119555	0.04263	0.044666413	0.07179	0.040119555	0.04263	-4.059	0.24683	T	.	.	0.071	0.03736	B	.	.	0.106895	0.05072	1.611	0.62635984920107424	0.07013	0.02997	0.07858	N	AEFBI	0.036514	0.04877	N	-1.75202921020877	0.00673	0.02905452	-1.73852517746109	0.00977	0.04377642	3.20258260461768E-4	0.06498	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	6.17	-5.25	0.02567	-0.552000	0.06110	-0.682000	0.07881	-0.840000	0.02799	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.5816:0.0674:0.1091:0.2419	4.249	0.10136	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	647.43	33	chr2	68513563	.	A	G	647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.248;DP=364;ExcessHet=0;FS=1.129;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.28;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	9	0	1	0
chr2	68526201	68526201	T	C	exonic	APLF	.	nonsynonymous SNV	APLF:NM_173545:exon6:c.T763C:p.C255R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0031187522936	.	.	8.249e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs777116731	4.794e-06	4.788e-06	1.363e-06	8.262e-06	.	1.99e-06	1.28e-06	.	.	0	0	0	0	0.0001	0	0	0	0	1.317e-05	1.314e-05	1.286e-05	1.349e-05	1.471e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	9.475e-05	0	1.471e-05	0	0	0.092	0.31682	T	0.353	0.17320	T	0.435	0.35719	B	0.219	0.37734	B	0.079193	0.02335	N	1.676380	0.996328	0.23049	N	1.7	0.43825	L	1.98	0.21865	T	-3.95	0.73477	D	0.412	0.45237	-1.0472	0.15188	T	0.060	0.25163	T	10	0.11268285	0.21144	T	0.003119	0.06786	T	0.033	0.08068	0.308	0.27967	0.292423486923	0.28857	0.19501194953973486	0.19419	0.158933463977	0.17935	0.40246206522	0.25412	T	0.132156	0.46208	T	-0.212414	0.19041	T	-0.542895	0.18012	T	0.496567845344543	0.32504	T	0.542346	0.18433	T	0.34546545	0.56712	0.31265268	0.57266	0.34546545	0.56712	0.31265268	0.57265	-2.437	0.05365	T	.	.	0.092	0.13597	B	.	.	2.073634	0.26374	17.09	0.80385875384898153	0.13178	0.10502	0.15991	N	AEFI	0.095326	0.19261	N	-0.337247178604872	0.27743	1.524636	-0.42328015915737	0.24315	1.330864	2.57199585557588E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.71	2.31	0.27816	1.632000	0.36715	2.531000	0.33168	0.605000	0.46263	0.036000	0.20778	0.946000	0.28899	0.123000	0.19290	0.1971:0.1039:0.0:0.6991	3.504	0.07246	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	848.43	83	chr2	68526201	.	T	C	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.714;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.45;SOR=0.668	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1007	9	0	1	0
chr2	68866476	68866476	C	T	exonic	BMP10	.	nonsynonymous SNV	BMP10:NM_014482:exon2:c.G430A:p.E144K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	0.165851480792	.	.	1.654e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs750438622	3.421e-06	3.42e-06	2.723e-06	4.125e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-0.73	0.73100	T	-3.25	0.65283	D	0.955	0.96416	0.227	0.86371	D	0.586	0.85149	D	10	0.96778953	0.96299	D	0.165851	0.84461	D	0.828	0.94541	0.837	0.94418	0.848838842824	0.84739	0.9377685575499655	0.93756	1.0664861996	0.76637	0.62247210741	0.56078	T	0.880769	0.97499	D	0.237348	0.77410	D	0.284685	0.87372	D	0.79102804609368	0.45757	D	0.939806	0.77272	D	0.8191248	0.85161	0.74604064	0.84989	0.8191248	0.85162	0.74604064	0.84990	-7.75	0.59354	D	.	.	0.668	0.71640	P	.	.	4.707895	0.75603	26.4	0.99932470607961787	0.99439	0.99657	0.98405	D	AEFBI	0.942832	0.94791	D	0.897757908978927	0.91649	10.99188	0.871631397603469	0.94212	12.58918	0.999999999999918	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	7.715000	0.83682	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:1.0:0.0:0.0	19.108	0.93286	829	0.39537	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5342.14	220	chr2	68866476	.	C	T	5342.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.373;DP=697;ExcessHet=0.2348;FS=5.259;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=1.02;SOR=0.41	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	8	0	2	0
chr2	68871273	68871273	T	G	exonic	BMP10	.	nonsynonymous SNV	BMP10:NM_014482:exon1:c.A86C:p.Q29P	.	418	1103	1	0	0	1	0.000453104	.	.	.	2220695	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.0093023754331	.	.	1.649e-05	0	8.652e-05	0	0	0	0	6.062e-05	1.29e-05	2	154602	rs745609188	7.525e-06	7.524e-06	6.806e-06	8.25e-06	2.236e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	0	0	8.993e-06	0	0	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.043	0.41364	D	0.204	0.27235	T	0.0	0.02946	B	0.0	0.01387	B	0.208608	0.16421	N	0.555808	0.983868	0.24849	N	1.24	0.30952	L	-0.83	0.74159	T	0.3	0.04091	N	0.309	0.34874	-1.0115	0.26447	T	0.156	0.48841	T	10	0.084962666	0.14295	T	0.009302	0.24413	T	0.167	0.42761	0.238	0.16912	0.68533214849	0.68264	0.4596673942638629	0.45884	0.415421845615	0.42198	0.307576537132	0.11541	T	0.297696	0.67029	T	-0.113121	0.34253	T	-0.303413	0.44364	T	0.0462930169204659	0.04837	T	0.687031	0.29593	T	0.09906737	0.23375	0.12378099	0.29843	0.09906737	0.23375	0.12378099	0.29842	-3.386	0.14869	T	.	.	0.067	0.02518	B	.	.	1.523248	0.19552	14.32	0.96868877629687955	0.31411	0.93982	0.59758	D	AEFBI	0.361407	0.45103	N	-0.578463666499297	0.19600	1.02706	-0.473514846211194	0.22887	1.245335	0.999728926861533	0.42220	0.554377	0.28877	0	0.563428	0.19063	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.83	-1.99	0.07047	1.032000	0.29786	-0.013000	0.13032	0.665000	0.62972	0.979000	0.35152	0.803000	0.26967	0.995000	0.73285	0.1212:0.22:0.1251:0.5337	1.902	0.03071	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1939.43	142	chr2	68871273	.	T	G	1939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.846;DP=457;ExcessHet=0;FS=1.367;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-1.26;SOR=0.875	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1140	9	0	1	0
chr2	68977657	68977657	C	A	exonic	GKN1	.	nonsynonymous SNV	GKN1:NM_019617:exon3:c.C87A:p.D29E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00471035700773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.858e-07	6.841e-07	1.365e-06	0	9.02e-07	0	0	.	.	0	0	0	0	0	0	9.02e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.055	0.46862	T	0.006	0.13644	B	0.004	0.10090	B	0.943135	0.08339	N	0.975430	1	0.08975	N	1.155	0.29575	L	1.01	0.41058	T	-0.51	0.15986	N	0.107	0.09207	-1.0194	0.23910	T	0.074	0.29897	T	10	0.046344995	0.03814	T	0.00471	0.11722	T	0.003	0.00094	0.3	0.26683	0.236890367714	0.23314	0.3252180443627265	0.32434	0.162093636695	0.18288	0.290204167366	0.08951	T	0.024545	0.18527	T	-0.333969	0.05816	T	-0.7175	0.04917	T	0.0316618853874461	0.02252	T	0.340266	0.07351	T	0.032233413	0.03210	0.024716413	0.00496	0.032233413	0.03210	0.024716413	0.00496	.	.	.	.	.	0.148	0.32780	B	.	.	-0.226390	0.02960	0.438	0.87139710768757417	0.17016	0.02447	0.06888	N	AEFDGBI	0.063526	0.12280	N	-1.22798131369658	0.04598	0.2078591	-1.30718656154007	0.04337	0.2043297	0.999998654567299	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.12	-2.49	0.06034	-1.233000	0.03043	-3.406000	0.02811	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3664:0.2714:0.0:0.3621	3.820	0.08346	864	0.32732	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1550.43	33	chr2	68977657	.	C	A	1550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=473;ExcessHet=0;FS=2.122;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.04;SOR=0.522	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr2	69245307	69245307	C	T	exonic	ANTXR1	.	nonsynonymous SNV	ANTXR1:NM_032208:exon18:c.C1517T:p.P506L	GAPO syndrome, Autosomal recessive	442	1078	2	0	0	2	0.000926784	.	.	.	2117164	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.095	0.01205753027	7.7e-05	0.000399361	0.0005	0	0.0002	0	0.0009	0.0005	0.0011	0.0012	0.0004269	66	154602	rs200543195	0.0004	0.0004	0.0004	0.0005	0.0012	0.0004	0.0004	0.0010	0.0010	8.962e-05	0.0004	0	0	0.0006	0.0002	0.0004	0.0003	0.0012	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	2.439e-05	0	0.0001	0	0	0.0003	0	0.0005	0	0.0011	0.212	0.19500	T	0.004	0.74150	D	0.0	0.02946	B	0.0	0.01387	B	0.066029	0.21838	N	0.397090	0.999625	0.20843	N	1.975	0.53506	M	1.53	0.30401	T	-1.37	0.33998	N	0.191	0.20925	-0.9840	0.34069	T	0.051	0.21883	T	10	0.016046315	0.00337	T	0.012058	0.30290	T	0.095	0.27398	.	.	0.251679625132	0.24793	0.28217304059455833	0.28130	0.172866943843	0.19464	0.671143889427	0.63001	T	0.155564	0.49735	T	-0.503146	0.00549	T	-0.545951	0.17716	T	0.0471520305336068	0.04992	T	0.655934	0.26583	T	0.057583548	0.11479	0.039262746	0.03978	0.05248066	0.09794	0.040156636	0.04276	-4.593	0.32083	T	.	.	0.072	0.04316	B	.	.	2.385456	0.30625	18.49	0.48035223439232139	0.03976	0.69739	0.34308	D	AEFDBI	0.162205	0.28835	N	-0.573468440810704	0.19754	1.036312	-0.512028297024326	0.21826	1.182586	0.999991405040713	0.74766	0.706298	0.61202	0	0.657636	0.61667	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.34	3.43	0.38372	3.292000	0.51478	2.228000	0.31507	0.454000	0.21428	0.880000	0.30988	0.026000	0.21063	0.005000	0.06747	0.1497:0.763:0.0:0.0873	8.92	0.34765	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000517	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2098.43	34	chr2	69245307	.	C	T	2098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=488;ExcessHet=0;FS=4.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-1.919;SOR=1.091	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1299	9	0	1	0
chr2	69437368	69437368	G	A	exonic	NFU1	.	nonsynonymous SNV	NFU1:NM_001002755:exon1:c.C55T:p.R19C	Multiple mitochondrial dysfunctions syndrome 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0640424200432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	2.736e-06	1.367e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.19225	T	0.064	0.44905	T	0.001	0.07471	B	0.001	0.04355	B	0.040935	0.24004	N	0.299341	1	0.81001	D	0.625	0.15840	N	-0.11	0.64445	T	0.25	0.04456	N	0.281	0.31814	-1.0711	0.09173	T	0.104	0.38193	T	10	0.11906245	0.22524	T	0.064042	0.69155	D	0.035	0.08770	0.487	0.57098	0.551177841964	0.54775	0.4129507022029496	0.41211	0.187875289046	0.21116	0.443632930517	0.31073	T	0.009637	0.08763	T	-0.120051	0.33115	T	-0.410222	0.32200	T	0.629459202289581	0.37595	D	0.527847	0.17429	T	0.06674974	0.14392	0.052943837	0.08822	0.06674974	0.14392	0.052943837	0.08821	-3.856	0.21644	T	.	.	0.240	0.47459	B	.	.	2.673461	0.34861	19.74	0.99286150006202711	0.58078	0.04105	0.09574	N	ALL	0.095503	0.19295	N	-0.839216319858415	0.12316	0.5996054	-0.724125466927259	0.16360	0.8651172	0.999999999804826	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.97	2.17	0.26736	1.698000	0.37413	1.840000	0.29181	0.671000	0.69459	0.461000	0.26652	0.005000	0.19230	0.186000	0.21481	0.3003:0.0:0.6997:0.0	6.670	0.22256	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	732.43	34	chr2	69437368	.	G	A	732.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.969;DP=368;ExcessHet=0;FS=1.198;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=1.06;SOR=0.982	GT:AD:DP:GQ:PL	0/0:32,0:32:96:0,96,880	9	0	1	0
chr2	69840971	69840971	C	G	exonic	GMCL1	.	nonsynonymous SNV	GMCL1:NM_178439:exon4:c.C511G:p.R171G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	0.0463740586445	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961012636	8.21e-06	8.209e-06	9.531e-06	6.877e-06	0.0001	4.38e-06	3.46e-06	4.359e-05	2.767e-05	0	0.0001	0	0	0	0	4.497e-06	3.313e-05	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.009	0.57480	D	0.036	0.52060	D	0.439	0.35873	B	0.331	0.42107	B	0.000000	0.84330	D	0.000000	0.999908	0.50806	D	.	.	.	-0.39	0.69158	T	-3.47	0.67824	D	0.895	0.89465	-1.0348	0.18920	T	0.121	0.42058	T	10	0.6631048	0.70269	D	0.046374	0.62428	D	0.418	0.72780	0.528	0.63412	0.655352004	0.65248	0.7357330912422197	0.73518	0.772625125481	0.64851	0.666774749756	0.62378	T	0.596996	0.87028	D	0.186731	0.72661	D	0.113315	0.77791	D	0.501163125038147	0.32672	D	0.743826	0.36376	T	0.4976334	0.66956	0.40566686	0.64961	0.4976334	0.66956	0.40566686	0.64961	-11.325	0.81410	D	.	.	0.595	0.68661	P	.	.	3.284007	0.45011	22.0	0.99060114111874131	0.51459	0.88284	0.48142	D	AEFBI	0.298155	0.40755	N	-0.370297478774734	0.26534	1.448798	-0.255102892757115	0.29596	1.65938	0.291200755382601	0.19088	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.04	2.12	0.26372	1.126000	0.30958	2.834000	0.35039	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.5384:0.4615:0.0:0.0	9.781	0.39812	581	0.69614	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1282.43	33	chr2	69840971	.	C	G	1282.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.274;DP=418;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.961;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	9	0	1	0
chr2	70212810	70212810	T	C	exonic	TIA1	.	nonsynonymous SNV	TIA1:NM_001351514:exon11:c.A842G:p.N281S,TIA1:NM_001351509:exon12:c.A1043G:p.N348S,TIA1:NM_001351510:exon12:c.A1034G:p.N345S,TIA1:NM_001351512:exon12:c.A932G:p.N311S,TIA1:NM_001351513:exon12:c.A926G:p.N309S,TIA1:NM_022037:exon12:c.A1037G:p.N346S,TIA1:NM_001351508:exon13:c.A1067G:p.N356S,TIA1:NM_001351511:exon13:c.A959G:p.N320S,TIA1:NM_001351515:exon13:c.A767G:p.N256S,TIA1:NM_001351524:exon13:c.A650G:p.N217S,TIA1:NM_001351525:exon13:c.A650G:p.N217S,TIA1:NM_022173:exon13:c.A1070G:p.N357S,TIA1:NM_001351517:exon15:c.A647G:p.N216S	Welander distal myopathy, Autosomal recessive, Autosomal dominant	433	1063	25	1	0	27	0.0125406	.	.	.	250766	TIA1-related_disorder|not_specified|Welander_distal_myopathy|Amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia|not_provided	.|MedGen:CN169374|MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603|MONDO:MONDO:0030885,MedGen:C5436882,OMIM:619133|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.0068	0.00159744	0.0071	0.0011	0.0017	0.0001	0.0062	0.0096	0.0121	0.0082	0.006714	1038	154602	rs116621885	0.0074	0.0074	0.0072	0.0076	0.0097	0.0073	0.0072	0.0091	0.0089	0.0008	0.0018	0.0111	0	0.0062	0.0071	0.0078	0.0075	0.0097	0.0058	0.0058	0.0062	0.0054	0.0098	0.0055	0.0054	0.0092	0.0090	0.0014	0	0.0017	0.0095	0.0004	0.0044	0.0068	0.0098	0.0033	0.0085	0.774	0.28271	T	0.508	0.18018	T	0.224	0.44504	B	0.035	0.38393	B	0.000000	0.84330	D	0.000000	0.999885	0.50402	D	0.69	0.16971	N	1.87	0.24085	T	-0.69	0.20576	N	0.145	0.17966	-1.1318	0.01698	T	0.042	0.18035	T	10	0.008425117	0.00191	T	.	.	.	0.086	0.25016	.	.	0.505014679873	0.50138	0.7826891376531397	0.78219	0.449003188195	0.44711	0.48201584816	0.36334	T	0.19771	0.55447	T	-0.53217	0.00373	T	-0.525526	0.19737	T	0.021698436316006	0.00876	T	0.907309	0.80370	D	0.13183007	0.30715	0.083171055	0.19040	0.100094944	0.23631	0.083171055	0.19040	-3.659	0.20342	T	.	.	0.058	0.00693	B	.;.;.;.	.;.;.;.	2.930871	0.38935	20.8	0.96730909776813989	0.30888	0.81882	0.41199	D	AEFDGBHCI	0.335452	0.43389	N	0.132091676009274	0.47965	3.014956	0.267106633268196	0.53630	3.530868	0.999999989995281	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	2.023000	0.40660	7.952000	0.75854	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.114	0.72058	492	0.76569	.;.;.;RNA recognition motif domain	.	.	.	.	rs116621885	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.006793	0.002924	0.000000	0.008621	0.012195	0.018939	0.05	839.43	34	chr2	70212810	.	T	C	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.276;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.817;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	9	0	1	0
chr2	70787690	70787690	G	C	exonic	FIGLA	.	nonsynonymous SNV	FIGLA:NM_001004311:exon2:c.C343G:p.Q115E	Premature ovarian failure 6	.	.	.	.	.	.	.	.	.	.	2685245	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.067717286051	.	.	0	0	0	0	0	0	0	0	.	.	.	rs782450302	2.701e-05	2.941e-05	1.512e-05	3.911e-05	7.16e-05	2.023e-05	1.776e-05	2.014e-05	1.755e-05	0	7.16e-05	0	0	1.907e-05	0	2.811e-05	6.683e-05	0	1.314e-05	1.313e-05	2.569e-05	0	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.215	0.19293	T	0.043	0.49942	D	0.822	0.45767	P	0.42	0.45080	B	0.068370	0.21677	N	0.379011	0.540	0.31419	N	-0.07	0.04846	N	-4.62	0.97884	D	-1.25	0.31576	N	0.414	0.45426	0.615	0.92095	D	0.810	0.93600	D	10	0.35766548	0.52476	T	0.067717	0.70245	D	0.365	0.68495	0.361	0.36548	0.505014679873	0.50138	0.34343348740458496	0.34256	0.299618368744	0.32332	0.257922559977	0.04647	T	0.510988	0.82711	D	-0.0100794	0.50254	T	-0.0707269	0.65575	T	0.686711549758911	0.40095	D	0.834017	0.50309	T	0.19892414	0.41813	0.32274023	0.58211	0.20696437	0.42887	0.3316258	0.59018	-9.238	0.69216	D	0.209715981369254	0.28080	0.102	0.17785	B	.	.	3.876082	0.56301	23.7	0.98490452859181532	0.42085	0.93333	0.57936	D	AEFBI	0.479833	0.52181	N	0.119307135031492	0.47363	2.963119	0.210091920010438	0.50408	3.233044	0.999985418439054	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.45	5.45	0.79688	5.636000	0.67521	11.451000	0.92797	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	16.822	0.85612	878	0.29785	Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	727.43	41	chr2	70787690	.	G	C	727.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.404;DP=388;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.887;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,984	9	0	1	0
chr2	70921265	70921265	C	A	exonic	VAX2	.	nonsynonymous SNV	VAX2:NM_012476:exon2:c.C415A:p.L139M	.	10	1450	61	1	0	63	0.0212622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	.	0.0018	0.00599042	0.0045	0.0006	0.0012	0.0001	0.0005	0.0023	0.0080	0.0223	0.0040168	621	154602	rs56075602	0.0034	0.0034	0.0028	0.0040	0.0218	0.0033	0.0033	0.0209	0.0206	0.0003	0.0007	0.0008	2.528e-05	0.0005	0.0073	0.0024	0.0038	0.0218	0.0019	0.0019	0.0015	0.0022	0.0199	0.0017	0.0016	0.0167	0.0155	0.0005	0	0.0010	0.0009	0	0.0008	0.0102	0.0020	0.0009	0.0199	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999999	0.58761	D	3.28	0.90206	M	-4.79	0.98155	D	-1.87	0.43717	N	0.835	0.83066	1.084	0.99011	D	0.963	0.98797	D	10	0.012894422	0.00275	T	.	.	.	0.843	0.95101	.	.	0.994496113608	0.99443	0.48373213927814934	0.48293	0.291920001814	0.31603	0.739147901535	0.72847	T	0.708417	0.91663	D	0.072921	0.61203	D	0.349555	0.90297	D	0.0772881118984215	0.09637	T	0.910909	0.68443	D	0.5141345	0.67921	0.46391258	0.68881	0.5141345	0.67922	0.46391258	0.68881	-8.698	0.65733	D	.	.	0.829	0.78671	P	.	.	3.820018	0.55149	23.6	0.99643519408860837	0.76819	0.93748	0.59079	D	AEFBI	0.639393	0.61746	D	0.61188462827725	0.73923	6.046364	0.513243209958108	0.68880	5.281514	0.999775004554386	0.42865	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.43	3.63	0.40741	3.127000	0.50178	2.656000	0.33848	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.8331:0.0:0.1669	9.833	0.40121	723	0.55174	Homeobox domain|Homeobox domain, metazoa|Helix-turn-helix motif|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006067	0.000000	0.005435	0.002924	0.000000	0.008621	0.006211	0.015152	0.15	3677.45	97	chr2	70921265	.	C	A	3677.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.035;DP=572;ExcessHet=0.7463;FS=2.122;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.437;SOR=0.573	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	7	0	3	0
chr2	70964973	70964973	G	A	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon14:c.G1394A:p.R465H	Renal tubular acidosis with deafness, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	178236	Renal_tubular_acidosis_with_progressive_nerve_deafness|not_specified|not_provided	MONDO:MONDO:0009968,MedGen:C0403554,OMIM:267300,Orphanet:93611|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.828	.	0.0025	0.0061901	0.0035	0.0075	0.0003	0.0046	0	0.0002	0.0033	0.0170	0.0031047	480	154602	rs142905621	0.0015	0.0015	0.0011	0.0019	0.0153	0.0015	0.0014	0.0147	0.0144	0.0076	0.0003	0	0.0060	0	0.0035	0.0002	0.0027	0.0153	0.0031	0.0031	0.0030	0.0032	0.0168	0.0028	0.0028	0.0138	0.0127	0.0076	0	0.0012	0	0.0058	0	0.0034	0.0003	0.0024	0.0168	0.0	0.91255	D	0.022	0.57587	D	1.0	0.90584	D	0.973	0.72923	D	0.000149	0.49130	D	0.000000	0.999959	0.52396	D	3.51	0.92865	H	-1.1	0.77336	T	-3.42	0.67241	D	0.814	0.80964	0.403	0.89140	D	0.586	0.85131	D	10	0.0092583	0.00209	T	.	.	.	0.828	0.94541	.	.	0.95792341004	0.95747	0.7600005871969095	0.75948	1.12815551387	0.78511	0.545493364334	0.45222	T	0.802041	0.94963	D	0.0258883	0.55174	T	0.277384	0.86985	D	0.0668853237405869	0.08206	T	0.999	0.99243	D	0.74366266	0.80502	0.74012125	0.84638	0.6942448	0.77744	0.7570738	0.85645	-11.369	0.81642	D	0.7549529545501241	0.83695	0.729	0.74794	P	.;.;.	.;.;.	5.790736	0.93567	33	0.99946741374590364	0.99913	0.91468	0.53595	D	ALL	0.926492	0.90768	D	0.834722817885169	0.88221	9.497847	0.729656684466395	0.84630	8.345883	0.999999999999999	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	3.81	3.81	0.43020	10.003000	0.99689	9.822000	0.81809	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	13.252	0.59487	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.015152	0.05	1722.43	37	chr2	70964973	.	G	A	1722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.683;DP=516;ExcessHet=0;FS=1.189;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-1.563;SOR=0.591	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1293	9	0	1	0
chr2	70965068	70965068	T	C	exonic	ATP6V1B1	.	nonsynonymous SNV	ATP6V1B1:NM_001692:exon14:c.T1489C:p.F497L	Renal tubular acidosis with deafness, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802	0.162640802747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.003	0.76473	D	0.499	0.37135	P	0.595	0.52381	P	0.000033	0.55875	D	0.000000	0.999996	0.58761	D	2.91	0.84121	M	-1.94	0.85173	D	-3.68	0.70314	D	0.603	0.62611	0.387	0.88894	D	0.648	0.87738	D	10	0.81215584	0.80488	D	0.162641	0.84217	D	0.802	0.93543	0.73	0.86373	0.972512461305	0.97221	0.8273733214245099	0.82695	0.790452143847	0.65761	0.669158577919	0.62719	T	0.812941	0.95345	D	0.206172	0.74470	D	0.0583759	0.74138	D	0.991531670093536	0.81842	D	0.810219	0.46129	T	0.38336316	0.59559	0.40933713	0.65225	0.38336316	0.59559	0.40933713	0.65225	-7.626	0.58492	D	.	.	0.960	0.92090	P	.;.;.	.;.;.	5.317260	0.89256	29.9	0.99748977429184305	0.84077	0.92891	0.56800	D	ALL	0.932800	0.92371	D	0.439806125470078	0.63627	4.600146	0.403773091818472	0.61800	4.385246	1.0	0.98316	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.765457	0.99879	0	.	.	3.81	3.81	0.43020	8.017000	0.88732	7.765000	0.68366	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	10.596	0.44531	829	0.39537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	483.43	37	chr2	70965068	.	T	C	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.325;DP=403;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=-0.039;SOR=0.437	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1293	9	0	1	0
chr2	70979738	70979738	-	C	exonic	ANKRD53	.	frameshift insertion	ANKRD53:NM_001115116:exon3:c.496dupC:p.V167Rfs*8,ANKRD53:NM_001369683:exon3:c.394dupC:p.V133Rfs*8,ANKRD53:NM_024933:exon3:c.496dupC:p.V167Rfs*8	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1767.39	35	chr2	70979738	.	T	TC	1767.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=441;ExcessHet=0;FS=3.362;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.6;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	9	0	1	0
chr2	71149341	71149341	G	A	exonic	MPHOSPH10	.	nonsynonymous SNV	MPHOSPH10:NM_005791:exon10:c.G1784A:p.R595Q	.	436	1051	32	3	0	38	0.017757	.	.	.	2811988	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.177	0.020274678179	0.0022	0.00159744	0.0029	0.0002	0.0037	0.0001	0.0002	0.0039	0.0035	0.0023	0.0025873	400	154602	rs115361918	0.0020	0.0020	0.0018	0.0022	0.0426	0.0019	0.0019	0.0383	0.0366	0.0019	0.0033	0.0123	2.52e-05	0.0001	0.0426	0.0015	0.0042	0.0025	0.0024	0.0024	0.0024	0.0024	0.0054	0.0022	0.0021	0.0045	0.0041	0.0006	0	0.0054	0.0135	0	0	0.0238	0.0026	0.0085	0.0023	0.02	0.49613	D	0.087	0.40747	T	1.0	0.90584	D	0.977	0.73820	D	0.000011	0.62929	N	0.107790	0.999582	0.50061	D	2.755	0.80505	M	1.96	0.22270	T	-1.23	0.31170	N	0.23	0.25867	-1.1283	0.01865	T	0.086	0.33522	T	10	0.007098645	0.00161	T	0.020275	0.42842	T	0.177	0.44549	.	.	0.562875150688	0.55950	0.08509729497497982	0.08443	0.33767179458	0.35753	0.437681108713	0.30261	T	0.006553	0.05980	T	-0.418312	0.01753	T	-0.376703	0.36106	T	0.0518937704265915	0.05829	T	0.836316	0.50742	T	0.162351	0.36306	0.103670575	0.24880	0.162351	0.36306	0.103670575	0.24880	-2.975	0.09914	T	.	.	0.074	0.05103	B	.	.	4.242512	0.64330	24.7	0.99951904555326809	0.99951	0.92353	0.55515	D	AEFBI	0.614299	0.60167	D	0.399904150871398	0.61418	4.342557	0.385913687221664	0.60694	4.260069	0.685508698563358	0.22528	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.75	3.96	0.45097	3.885000	0.55896	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1346:0.0:0.8654:0.0	11.062	0.47169	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026741	0.020202	0.039402	0.038012	0.000000	0.025862	0.012346	0.000000	0.05	659.43	36	chr2	71149341	.	G	A	659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.099;DP=372;ExcessHet=0;FS=1.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.123;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,991	9	0	1	0
chr2	71511847	71511847	G	A	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130455:exon5:c.G386A:p.G129E,DYSF:NM_001130976:exon5:c.G383A:p.G128E,DYSF:NM_001130977:exon5:c.G383A:p.G128E,DYSF:NM_001130978:exon5:c.G383A:p.G128E,DYSF:NM_001130979:exon5:c.G383A:p.G128E,DYSF:NM_001130980:exon5:c.G383A:p.G128E,DYSF:NM_001130981:exon5:c.G383A:p.G128E,DYSF:NM_001130982:exon5:c.G386A:p.G129E,DYSF:NM_001130983:exon5:c.G386A:p.G129E,DYSF:NM_001130984:exon5:c.G386A:p.G129E,DYSF:NM_001130985:exon5:c.G386A:p.G129E,DYSF:NM_001130986:exon5:c.G386A:p.G129E,DYSF:NM_001130987:exon5:c.G386A:p.G129E,DYSF:NM_003494:exon5:c.G383A:p.G128E	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	1	1476	43	2	0	47	0.0156719	.	.	YES	100211	not_provided|Muscular_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy|not_specified|Miyoshi_muscular_dystrophy_1|DYSF-related_disorder|Inborn_genetic_diseases|Qualitative_or_quantitative_defects_of_dysferlin|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003544,Human_Phenotype_Ontology:HP:0003560,Human_Phenotype_Ontology:HP:0003806,Human_Phenotype_Ontology:HP:0007081,MONDO:MONDO:0020121,MeSH:D009136,MedGen:C0026850,Orphanet:98473|MONDO:MONDO:0015152,MedGen:C2931907,OMIM:PS253600,Orphanet:102015|MedGen:CN169374|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.450	.	0.0030	0.00159744	0.0098	0.0011	0.0049	0	0	0.0183	0.0153	0.0045	0.0024579	380	154602	rs34997054	0.0047	0.0045	0.0045	0.0049	0.0374	0.0046	0.0045	0.0333	0.0317	0.0021	0.0052	0.0593	8.394e-05	0.0011	0.0374	0.0035	0.0081	0.0041	0.0041	0.0041	0.0041	0.0042	0.0040	0.0039	0.0038	0.0036	0.0035	0.0011	0	0.0034	0.0597	0	0.0009	0.0340	0.0040	0.0080	0.0035	0.002	0.72154	D	0.025	0.63918	D	1.0	0.90584	D	0.987	0.97372	D	0.000000	0.84330	D	0.000000	0.999691	0.48338	D	1.7	0.43825	L	-0.58	0.71425	T	-2.68	0.59545	D	0.704	0.76296	-0.1933	0.77844	T	0.368	0.72795	T	10	0.0076210797	0.00173	T	.	.	.	0.450	0.75074	.	.	0.847117957773	0.84565	0.41910220952667493	0.41826	0.400537334798	0.41053	0.596444606781	0.52402	T	0.331191	0.70129	T	-0.0527792	0.44023	T	0.155415	0.80523	D	0.0127962040610685	0.00217	T	0.982152	0.93936	D	0.43304807	0.62951	0.52332085	0.72460	0.42248505	0.62257	0.40962756	0.65246	-4.861	0.38305	T	0.4157276245324331	0.50529	0.262	0.52260	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.332963	0.66407	25.0	0.99815122670572842	0.89885	0.97539	0.75410	D	AEFDBI	0.896243	0.83710	D	0.627165512649695	0.74898	6.211737	0.598653342606489	0.74844	6.206532	0.99999999997923	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	8.146000	0.89551	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.0:1.0:0.0	14.640	0.68316	575	0.70088	.;.;.;.;Ferlin, first C2 domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033548	0.021053	0.044922	0.036424	0.111111	0.025000	0.029197	0.010417	0.05	921.43	33	chr2	71511847	.	G	A	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.777;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.09;SOR=0.72	GT:AD:DP:GQ:PL	0/1:38,41:79:99:933,0,893	9	0	1	0
chr2	71613376	71613376	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon39:c.A4334G:p.D1445G,DYSF:NM_001130977:exon39:c.A4334G:p.D1445G,DYSF:NM_001130984:exon39:c.A4337G:p.D1446G,DYSF:NM_001130986:exon39:c.A4337G:p.D1446G,DYSF:NM_001130455:exon40:c.A4379G:p.D1460G,DYSF:NM_001130978:exon40:c.A4376G:p.D1459G,DYSF:NM_001130980:exon40:c.A4427G:p.D1476G,DYSF:NM_001130981:exon40:c.A4427G:p.D1476G,DYSF:NM_001130983:exon40:c.A4379G:p.D1460G,DYSF:NM_001130985:exon40:c.A4430G:p.D1477G,DYSF:NM_001130987:exon40:c.A4430G:p.D1477G,DYSF:NM_003494:exon40:c.A4376G:p.D1459G,DYSF:NM_001130979:exon41:c.A4469G:p.D1490G,DYSF:NM_001130982:exon41:c.A4472G:p.D1491G	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	134396	not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|not_provided|Qualitative_or_quantitative_defects_of_dysferlin	MedGen:CN169374|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MedGen:C3661900|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.586	.	0.0085	0.0071885	0.0026	0.0296	0.0008	0	0	3.295e-05	0.0025	0	0.0022057	341	154602	rs61738567	0.0008	0.0008	0.0008	0.0007	0.0269	0.0007	0.0007	0.0255	0.0249	0.0269	0.0010	0	0	0	0.0016	2.338e-05	0.0018	0.0001	0.0072	0.0073	0.0074	0.0070	0.0254	0.0069	0.0067	0.0241	0.0236	0.0254	0	0.0022	0	0	0	0	4.412e-05	0.0038	0	0.016	0.68238	D	0.097	0.42086	T	0.876	0.56768	P	0.614	0.55432	P	0.000026	0.55875	D	0.154610	0.999998	0.58761	D	1.965	0.53209	M	-1.74	0.83413	D	-3.73	0.72710	D	0.721	0.79889	-0.3207	0.74402	T	0.297	0.66877	T	10	0.008868605	0.00201	T	.	.	.	0.586	0.83416	.	.	0.888138958936	0.88703	0.7704728392097046	0.76996	0.244393863738	0.26944	0.656758189201	0.60945	T	0.671646	0.90261	D	-0.263412	0.12505	T	-0.132225	0.60785	T	0.0121075448063824	0.00193	T	0.940906	0.78488	D	0.37207565	0.58738	0.36499894	0.61857	0.4468403	0.63842	0.32030356	0.57985	-8.734	0.67245	D	0.4997261397134889	0.57515	0.594	0.69954	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.026940	0.59515	24.1	0.99825681855310655	0.90764	0.99112	0.91402	D	AEFDBI	0.948011	0.95919	D	0.440068492497731	0.63642	4.601917	0.491600691547116	0.67432	5.083277	0.999999981687695	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	7.851000	0.85233	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	1.0:0.0:0.0:0.0	13.168	0.59004	428	0.80967	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.006793	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	639.43	35	chr2	71613376	.	A	G	639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.806;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.41;ReadPosRankSum=0.31;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	9	0	1	0
chr2	71665214	71665214	C	T	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon45:c.C5068T:p.L1690F,DYSF:NM_001130986:exon45:c.C5071T:p.L1691F,DYSF:NM_001130455:exon46:c.C5113T:p.L1705F,DYSF:NM_001130977:exon46:c.C5131T:p.L1711F,DYSF:NM_001130980:exon46:c.C5161T:p.L1721F,DYSF:NM_001130984:exon46:c.C5134T:p.L1712F,DYSF:NM_001130985:exon46:c.C5164T:p.L1722F,DYSF:NM_003494:exon46:c.C5110T:p.L1704F,DYSF:NM_001130978:exon47:c.C5173T:p.L1725F,DYSF:NM_001130979:exon47:c.C5203T:p.L1735F,DYSF:NM_001130981:exon47:c.C5224T:p.L1742F,DYSF:NM_001130982:exon47:c.C5206T:p.L1736F,DYSF:NM_001130983:exon47:c.C5176T:p.L1726F,DYSF:NM_001130987:exon47:c.C5227T:p.L1743F	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	826963	Qualitative_or_quantitative_defects_of_dysferlin|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B	MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.352	0.0397205831479	.	0.000399361	9.888e-05	0	0	0	0	0	0	0.0007	9.06e-05	14	154602	rs575920691	3.831e-05	3.831e-05	1.906e-05	5.776e-05	0.0006	3.026e-05	2.719e-05	0.0005	0.0004	2.987e-05	0	0	0	0	0	0	4.968e-05	0.0006	5.909e-05	5.905e-05	3.856e-05	8.054e-05	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.053	0.38863	T	0.049	0.48336	D	0.886	0.65571	P	0.708	0.60373	P	0.027257	0.25787	N	0.408807	0.731601	0.33725	D	2.045	0.56016	M	-1.65	0.82715	D	-1.03	0.27052	N	0.469	0.52829	0.416	0.89332	D	0.593	0.85464	D	10	0.09031057	0.15721	T	0.039721	0.58968	D	0.352	0.67326	0.451	0.51285	0.848428311336	0.84697	0.39866982273070634	0.39781	0.19754653574	0.22128	0.465357869864	0.34044	T	0.378778	0.74167	T	-0.26619	0.12185	T	-0.270708	0.47749	T	0.105919389062039	0.12996	T	0.954005	0.82493	D	0.072558865	0.16151	0.08518882	0.19652	0.072558865	0.16150	0.08518882	0.19651	-6.612	0.52722	T	0.3607585485925635	0.45723	0.118	0.26762	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.238483	0.44194	21.9	0.99868477314462323	0.94637	0.90234	0.51250	D	AEFBI	0.465584	0.51359	N	0.486736348726938	0.66314	4.934254	0.492872422369425	0.67515	5.094588	0.986610022823647	0.31095	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.41	4.48	0.53973	2.060000	0.41020	.	.	0.599000	0.40250	1.000000	0.71638	0.258000	0.23964	0.997000	0.79791	0.3085:0.6915:0.0:0.0	10.563	0.44344	420	0.81451	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	905.43	33	chr2	71665214	.	C	T	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=430;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=1.48;SOR=0.554	GT:AD:DP:GQ:PL	0/1:78,44:122:99:917,0,1763	9	0	1	0
chr2	72132323	72132323	G	T	exonic	CYP26B1	.	nonsynonymous SNV	CYP26B1:NM_001277742:exon5:c.C1218A:p.H406Q,CYP26B1:NM_019885:exon6:c.C1443A:p.H481Q	Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	.	.	.	.	.	.	.	.	.	.	2670885	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.521	0.0523542808595	.	.	3.56e-05	0	0	0	0	4.205e-05	0	7.904e-05	2.59e-05	4	154602	rs781553628	5.008e-05	5.062e-05	4.366e-05	5.658e-05	0.0003	4.07e-05	3.744e-05	0.0001	9.53e-05	0	0	0	0	0	0.0003	4.684e-05	4.983e-05	0.0002	3.942e-05	3.94e-05	5.139e-05	2.69e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.008	0.61437	D	0.01	0.65728	D	0.621	0.39935	P	0.593	0.50536	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	-0.28	0.67543	T	-5.8	0.90100	D	0.44	0.48872	-0.6805	0.61349	T	0.298	0.66970	T	10	0.42071074	0.56844	T	0.052354	0.65037	D	0.521	0.79643	0.428	0.47515	0.851778660072	0.85035	0.8981542765135034	0.89786	0.982812002586	0.73806	0.724378466606	0.70686	T	0.495088	0.81796	T	0.128536	0.67218	D	0.152363	0.80334	D	0.757637441158295	0.43717	D	0.952605	0.82752	D	0.7508441	0.80917	0.7409388	0.84687	0.7508441	0.80919	0.7409388	0.84688	-6.338	0.49023	T	.	.	0.678	0.72075	P	.;.;.	.;.;.	4.307261	0.65809	24.9	0.99628419429472692	0.75898	0.95252	0.64004	D	AEFDGBCI	0.939275	0.93966	D	0.503159872423481	0.67276	5.060117	0.597620183611261	0.74769	6.193688	0.999999967164663	0.74766	0.623552	0.39893	0	0.573888	0.26702	0	0.578056	0.29568	0	0.579976	0.35079	0	.	.	5.64	5.64	0.86480	7.738000	0.83897	6.679000	0.56304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.0:1.0:0.0	18.659	0.91423	920	0.19381	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2175.43	36	chr2	72132323	.	G	T	2175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.214;DP=609;ExcessHet=0;FS=6.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.552;SOR=1.08	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	9	0	1	0
chr2	73081095	73081095	-	TCC	exonic	RAB11FIP5	.	nonframeshift insertion	RAB11FIP5:NM_001371272:exon4:c.2136_2137insGGA:p.G712_R713insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs551578436	0.0032	0.0026	0.0031	0.0032	0.0179	0.0031	0.0031	0.0141	0.0127	0.0037	0.0026	0.0020	0.0042	0.0013	0.0179	0.0029	0.0041	0.0114	0.0033	0.0032	0.0034	0.0031	0.0087	0.0030	0.0029	0.0066	0.0058	0.0035	0	0.0026	0.0023	0.0040	0.0017	0.0069	0.0031	0.0039	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	716.95	3	chr2	73081095	.	T	TTCC	716.95	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.967;DP=96;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.1809;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.55;ReadPosRankSum=0.605;SOR=1.022	GT:AD:DP:GQ:PL	0/0:5,0:7:69:69,84,294	9	0	1	0
chr2	73202748	73202748	C	G	exonic	NOTO	.	nonsynonymous SNV	NOTO:NM_001134462:exon1:c.C82G:p.P28A	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	.	0.000599042	0.0055	0	0	0	0	0.0121	0	0.0034	0.0005498	85	154602	rs199642782	0.0012	0.0011	0.0011	0.0013	0.0042	0.0012	0.0011	0.0038	0.0037	0.0001	0.0010	0.0140	0	0.0004	0.0022	0.0007	0.0021	0.0042	0.0009	0.0009	0.0008	0.0010	0.0033	0.0008	0.0007	0.0021	0.0017	2.405e-05	0	0.0007	0.0138	0	9.418e-05	0.0137	0.0007	0.0024	0.0033	0.106	0.29688	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.75	0.19020	N	-3.49	0.94621	D	-1.6	0.38540	N	0.173	0.18512	-0.4844	0.69209	T	0.546	0.83327	D	9	0.004879445	0.00104	T	.	.	.	0.187	0.46274	.	.	0.0846915920261	0.08053	0.19890324451906632	0.19807	.	.	0.66381072998	0.61954	T	0.095603	0.39655	T	-0.414883	0.01845	T	-0.368871	0.37020	T	0.0107926681724865	0.00153	T	0.392161	0.09760	T	0.022648614	0.00943	0.05486443	0.09518	0.022648614	0.00943	0.05486443	0.09518	-4.156	0.26112	T	.	.	0.061	0.01075	B	.	.	0.740228	0.11095	7.744	0.51853985449342788	0.04639	0.01359	0.04652	N	AEFDBI	0.024809	0.01596	N	-1.4490315996984	0.02224	0.09799306	-1.55064766528311	0.01972	0.09003617	0.998825715090349	0.37755	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	2.56	-3.79	0.04037	-0.114000	0.10729	-0.159000	0.11341	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3269:0.2326:0.3227:0.1178	1.570	0.02456	688	0.59122	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	895.43	34	chr2	73202748	.	C	G	895.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.76;DP=369;ExcessHet=0;FS=9.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=-0.485;SOR=1.911	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,957	9	0	1	0
chr2	73265335	73265335	G	A	exonic	FBXO41	.	nonsynonymous SNV	FBXO41:NM_001371389:exon5:c.C1511T:p.A504V,FBXO41:NM_001080410:exon9:c.C1511T:p.A504V	.	388	1096	36	2	0	40	0.0179211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0003	0.0107827	0.0078	0.0006	0.0518	0.0004	0	0.0008	0.0047	0.0162	0.0070956	1097	154602	rs188487265	0.0030	0.0030	0.0026	0.0033	0.0480	0.0029	0.0029	0.0463	0.0456	0.0004	0.0480	0.0011	0.0014	0.0002	0.0097	0.0003	0.0037	0.0163	0.0058	0.0058	0.0045	0.0071	0.0462	0.0054	0.0053	0.0434	0.0423	0.0006	0	0.0462	0.0009	0.0012	0	0.0068	0.0006	0.0085	0.0157	0.476	0.08335	T	0.442	0.13252	T	0.0	0.02946	B	0.0	0.01387	B	0.847931	0.08984	N	0.917792	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.55	0.16799	N	0.072	0.04547	-1.0155	0.25175	T	0.006	0.02206	T	9	0.0017401278	0.00022	T	.	.	.	0.003	0.00094	.	.	0.138757226776	0.13463	0.18048622107473394	0.17967	0.301249995044	0.32469	0.411466300488	0.26660	T	0.006353	0.05784	T	-0.724524	0.00026	T	-0.778468	0.02500	T	0.00164849263473556	0.00017	T	0.430157	0.11673	T	0.027925882	0.02054	0.0304026	0.01492	0.027925882	0.02053	0.0304026	0.01492	-4.233	0.27226	T	.	.	0.062	0.01328	B	.;.;.	.;.;.	-0.518353	0.01809	0.142	0.72745171607099846	0.10081	0.06569	0.12583	N	AEFDBI	0.053189	0.09562	N	-1.45363776807987	0.02188	0.09635119	-1.46179851677538	0.02665	0.1229868	0.989634082244431	0.31888	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.39	-3.03	0.05100	-0.510000	0.06411	-0.252000	0.10498	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5201:0.0:0.2657:0.2142	5.979	0.18627	587	0.69154	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.000000	0.006793	0.005848	0.000000	0.000000	0.021472	0.015152	0.05	1078.43	33	chr2	73265335	.	G	A	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.447;SOR=0.71	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1102	9	0	1	0
chr2	73426482	73426482	G	A	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon6:c.G1267A:p.V423I,ALMS1:NM_015120:exon6:c.G1267A:p.V423I	Alstrom syndrome, Autosomal recessive	2	1502	17	1	0	19	0.00628515	.	.	.	238977	not_provided|Cardiovascular_phenotype|Retinal_dystrophy|Alstrom_syndrome|not_specified|Monogenic_diabetes	MedGen:C3661900|MedGen:CN230736|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	0.00345612667814	0.0033	0.00179712	0.0026	0.0009	0.0005	0	0.0027	0.0030	0	0.0050	0.0027167	420	154602	rs45630557	0.0040	0.0040	0.0040	0.0040	0.0054	0.0039	0.0039	0.0050	0.0048	0.0007	0.0004	0.0009	5.038e-05	0.0028	0.0017	0.0044	0.0035	0.0054	0.0029	0.0029	0.0030	0.0028	0.0064	0.0027	0.0026	0.0047	0.0041	0.0008	0	0.0007	0.0003	0	0.0037	0	0.0047	0.0024	0.0064	.	.	.	1.0	0.02459	T	0.0	0.02946	B	0.0	0.01387	B	0.747686	0.06466	N	1.155680	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.08	0.05542	-0.9575	0.39644	T	0.026	0.11087	T	10	0.004122615	0.00081	T	0.003456	0.07786	T	.	.	.	.	0.171388866994	0.16791	0.006995272376326678	0.00666	.	.	0.252609908581	0.04047	T	0.013741	0.17914	T	-0.577617	0.00199	T	-0.598757	0.12915	T	0.00138119108586919	0.00014	T	0.568943	0.20320	T	0.0102147795	0.00006	0.023596251	0.00373	0.012878834	0.00044	0.026542263	0.00749	-3.545	0.17067	T	.	.	0.065	0.02038	B	.;.;.	.;.;.	-1.080854	0.00664	0.018	0.72303482062225	0.09926	0.00493	0.02333	N	AEFGBI	0.014563	0.00238	N	-1.60831193230195	0.01223	0.05320218	-1.59728870139726	0.01672	0.07592029	0.00646401893511308	0.11224	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	4.67	0.203	0.14472	-0.251000	0.08837	0.014000	0.13486	-1.554000	0.00958	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6658:0.0:0.3342:0.0	8.390	0.31685	549	0.72275	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	588.43	35	chr2	73426482	.	G	A	588.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=362;ExcessHet=0;FS=2.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.462;SOR=1.022	GT:AD:DP:GQ:PL	0/1:32,26:58:99:600,0,692	9	0	1	0
chr2	73550273	73550273	A	G	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon13:c.A9914G:p.N3305S,ALMS1:NM_015120:exon13:c.A9914G:p.N3305S	Alstrom syndrome, Autosomal recessive	0	1483	38	1	0	40	0.0133067	.	.	YES	380199	not_provided|not_specified|Alstrom_syndrome|Monogenic_diabetes|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0031	0.0071885	0.0060	0.0002	0.0027	0.0008	0	0.0033	0.0056	0.0276	0.0054204	838	154602	rs142022233	0.0037	0.0037	0.0029	0.0045	0.0270	0.0036	0.0036	0.0261	0.0257	0.0003	0.0030	0.0034	0.0005	0.0001	0.0156	0.0022	0.0039	0.0270	0.0024	0.0024	0.0021	0.0026	0.0240	0.0022	0.0021	0.0205	0.0191	0.0004	0	0.0024	0.0026	0.0012	0	0.0068	0.0025	0.0028	0.0240	.	.	.	0.452	0.13441	T	.	.	.	.	.	.	0.000070	0.52346	D	0.000000	0.747461	0.29672	N	.	.	.	.	.	.	.	.	.	0.397	0.45709	-1.1846	0.00306	T	0.053	0.22617	T	10	0.008951098	0.00203	T	.	.	.	.	.	.	.	0.387042434762	0.38315	0.2530542708480999	0.25219	.	.	0.466330945492	0.34177	T	0.147434	0.48552	T	-0.353964	0.04483	T	-0.260949	0.48729	T	0.0475975534662284	0.05071	T	0.913609	0.69252	D	0.11530842	0.27212	0.14578831	0.34563	0.088071	0.20533	0.14003943	0.33393	-1.168	0.01206	T	0.5402525145478876	0.60999	0.201	0.42448	B	.;.;.	.;.;.	3.225189	0.43964	21.8	0.99837729661645302	0.91886	0.87337	0.46846	D	AEFDI	0.416386	0.48486	N	0.531581777356632	0.68969	5.29081	0.517269409425896	0.69152	5.319784	0.0874509147859097	0.16035	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.83	5.83	0.93059	4.178000	0.58079	6.801000	0.56627	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.346000	0.25568	1.0:0.0:0.0:0.0	12.576	0.55717	568	0.70638	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009073	0.000000	0.009511	0.014620	0.000000	0.000000	0.009146	0.011364	0.05	518.43	33	chr2	73550273	.	A	G	518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.455;DP=373;ExcessHet=0;FS=6.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=0.951;SOR=1.609	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	73701063	73701063	G	A	exonic	NAT8B	.	unknown	UNKNOWN	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	9.073e-05	0	8.637e-05	0	0	0	0	0.0006	7.76e-05	12	154602	rs573495203	6.293e-05	6.293e-05	4.492e-05	8.113e-05	0.0007	5.228e-05	4.845e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0007	3.417e-05	4.967e-05	0.0005	5.91e-05	6.562e-05	6.424e-05	5.372e-05	0.0012	3.076e-05	2.209e-05	0.0005	0.0004	0	0	0	0	0	0	0	4.411e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	3987.43	161	chr2	73701063	.	G	A	3987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=1636;ExcessHet=0;FS=0.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.31;SOR=0.779	GT:AD:DP:GQ:PL	0/0:188,0:188:99:0,120,1800	9	0	1	0
chr2	73784343	73784343	G	A	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon1:c.G34A:p.A12T	.	628	884	8	2	0	12	0.00674157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000846598976948	.	.	0	0	.	.	.	0	.	.	6.47e-05	10	154602	rs763969172	0.0016	0.0014	0.0009	0.0023	0.0186	0.0016	0.0015	0.0178	0.0175	0.0002	0.0004	8.669e-05	0	5.959e-05	0.0029	0.0004	0.0012	0.0186	0.0008	0.0008	0.0006	0.0011	0.0155	0.0007	0.0007	0.0126	0.0116	4.914e-05	0	0.0005	0	0	0	0.0068	0.0006	0.0010	0.0155	0.621	0.05293	T	1.0	0.01155	T	0.331	0.33259	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	0.88	0.01664	N	0.032	0.00825	-1.0002	0.29860	T	0.022	0.09421	T	8	0.0033150315	0.00057	T	8.47E-4	0.00734	T	0.026	0.05648	0.142	0.04556	0.0806252709748	0.07271	0.0034152991731072188	0.00319	0.0643857280339	0.07174	.	.	.	0.013262	0.11507	T	-0.651193	0.00071	T	-0.691913	0.06280	T	0.0201953202878348	0.00719	T	0.386161	0.09499	T	0.017668607	0.00292	0.04122659	0.04637	0.017668607	0.00292	0.04122659	0.04637	-3.259	0.13214	T	.	.	0.08	0.07793	B	.	.	0.294376	0.06705	3.211	0.64985530446057449	0.07645	0.00366	0.01868	N	AEFI	0.021671	0.00992	N	-1.3769359367759	0.02855	0.126686	-1.37359659550125	0.03535	0.1651233	0.940112614179508	0.27418	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.9	1.72	0.23498	0.044000	0.13876	0.604000	0.19959	-0.585000	0.04679	0.002000	0.15269	0.001000	0.17328	0.085000	0.17524	0.0:0.0:0.2736:0.7264	6.092	0.19222	392	0.83172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	53.46	9	chr2	73784343	.	G	A	53.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.887;DP=116;ExcessHet=0;FS=3.332;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.05;MQ=29.76;MQRankSum=-0.854;QD=6.68;ReadPosRankSum=0.703;SOR=0.88	GT:AD:DP:GQ:PL	0/0:10,0:10:24:0,24,360	9	0	1	0
chr2	73814221	73814221	T	C	exonic	C2orf78	.	nonsynonymous SNV	C2orf78:NM_001080474:exon2:c.T842C:p.V281A,C2orf78:NM_001353344:exon2:c.T842C:p.V281A	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00559092702761	7.8e-05	0.000998403	0.0006	0	0	0	0	3.252e-05	0.0013	0.0056	0.0004528	70	154602	rs367613891	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	3.089e-05	4.92e-05	0	0	0	0.0011	4.879e-05	0.0004	0.0032	0.0001	0.0001	0.0001	0.0001	0.0029	9.142e-05	7.698e-05	0.0018	0.0014	4.811e-05	0	6.538e-05	0	0	0	0	4.41e-05	0.0005	0.0029	0.019	0.50132	D	0.028	0.54934	D	0.161	0.28372	B	0.058	0.26451	B	.	.	.	.	0.998786	0.21910	N	0	0.06538	N	.	.	.	-1.1	0.28497	N	0.175	0.18784	-1.0382	0.17863	T	0.048	0.20672	T	8	0.0073311925	0.00167	T	0.005591	0.14439	T	0.099	0.28413	.	.	0.0986583533028	0.09354	0.06813865162238072	0.06751	0.0882553721524	0.09970	.	.	.	0.057013	0.30448	T	-0.49046	0.00646	T	-0.477432	0.24720	T	0.029662827232296	0.01938	T	0.463154	0.13467	T	0.07397118	0.16567	0.08941282	0.20908	0.07397118	0.16567	0.08941282	0.20908	-3.431	0.15477	T	.	.	0.137	0.29887	B	.	.	2.048402	0.26042	16.98	0.95343494155370057	0.26718	0.80181	0.39888	D	AEFDGBI	0.050564	0.08850	N	-0.507613510879061	0.21832	1.16157	-0.394945158769478	0.25146	1.381201	0.926874892670478	0.26867	0.516011	0.20929	0	0.610034	0.51514	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.48	4.28	0.50183	0.828000	0.27088	0.590000	0.19811	0.665000	0.62972	0.959000	0.33545	0.010000	0.20010	0.012000	0.09680	0.1681:0.0:0.0:0.8319	8.775	0.33912	403	0.82567	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	774.43	34	chr2	73814221	.	T	C	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-2.428;SOR=0.746	GT:AD:DP:GQ:PL	0/0:36,0:36:96:0,96,1440	9	0	1	0
chr2	74047851	74047851	C	T	exonic	TET3	.	nonsynonymous SNV	TET3:NM_001366022:exon3:c.C1655T:p.P552L,TET3:NM_001287491:exon4:c.C1934T:p.P645L	.	0	225	1	0	0	1	0.00221729	.	.	.	708363	not_provided|TET3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0051	0.00279553	0.0012	0.0148	0	0	0	4.744e-05	0.0036	0.0001	0.0010349	160	154602	rs201583228	0.0004	0.0004	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0004	0	0	0	0.0002	4.23e-05	0.0007	0.0001	0.0041	0.0041	0.0041	0.0041	0.0142	0.0038	0.0037	0.0133	0.0129	0.0142	0	0.0015	0	0	0	0	2.941e-05	0.0033	0	0.067	0.35918	T	0.133	0.39954	T	.	.	.	.	.	.	.	.	.	.	0.61549	0.30824	N	.	.	.	1.96	0.22270	T	-0.66	0.19085	N	0.278	0.34767	-1.0977	0.04380	T	0.015	0.06042	T	9	0.0042250156	0.00084	T	.	.	.	0.039	0.10176	.	.	0.0675242888579	0.06100	0.2792777632248546	0.27840	0.156553927278	0.17672	0.454389572144	0.32544	T	.	.	.	-0.606218	0.00133	T	-0.631243	0.10320	T	0.0151178663069045	0.00328	T	0.734827	0.35112	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05800	B	.;.	.;.	2.016115	0.25620	16.83	0.38818381978487354	0.02641	0.97491	0.75092	D	AEFBI	0.187400	0.31469	N	-0.204400986026125	0.32953	1.864144	-0.173378876520832	0.32520	1.850925	0.999999876677721	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.96	4.02	0.45968	1.838000	0.38851	2.642000	0.33760	0.549000	0.26987	0.133000	0.23395	0.485000	0.25122	0.005000	0.06747	0.1676:0.8324:0.0:0.0	12.436	0.54934	559	0.71409	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1148.43	35	chr2	74047851	.	C	T	1148.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=400;ExcessHet=0;FS=2.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=0.013;SOR=0.472	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1620	9	0	1	0
chr2	74227546	74227546	C	T	exonic	SLC4A5	.	nonsynonymous SNV	SLC4A5:NM_021196:exon22:c.G2935A:p.E979K	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0186377667787	0.0007	0.000998403	0.0011	0	0.0002	0	0.0002	0.0009	0	0.0045	0.0009702	150	154602	rs149351086	0.0005	0.0005	0.0004	0.0007	0.0040	0.0005	0.0005	0.0033	0.0032	5.978e-05	8.949e-05	0.0027	0	0	0.0040	0.0003	0.0007	0.0036	0.0004	0.0004	0.0003	0.0004	0.0039	0.0003	0.0003	0.0026	0.0021	4.812e-05	0	6.533e-05	0.0023	0	0	0	0.0003	0.0009	0.0039	0.16	0.23721	T	0.193	0.28210	T	0.033	0.20350	B	0.036	0.22909	B	0.000040	0.00387	N	5.452280	1	0.08975	N	0.345	0.11182	N	-1.05	0.76690	T	-0.3	0.11913	N	0.197	0.21710	-0.8203	0.53915	T	0.262	0.63253	T	10	0.004465103	0.00092	T	0.018638	0.40769	T	0.181	0.45247	.	.	0.184867976434	0.18130	0.495103805093812	0.49431	0.287349405284	0.31136	0.312174141407	0.12236	T	0.189015	0.54311	T	-0.403601	0.02193	T	-0.35336	0.38820	T	0.0236072390239789	0.01096	T	0.60384	0.22664	T	0.073018655	0.16286	0.11038876	0.26617	0.073018655	0.16286	0.11038876	0.26616	-2.968	0.09840	T	.	.	0.118	0.23986	B	.;.	.;.	0.554204	0.09227	6.010	0.61514354951040484	0.06728	0.07490	0.13505	N	AEFDBI	0.087634	0.17769	N	-1.1432204604401	0.05892	0.2698179	-1.14736888238316	0.06815	0.3293404	0.88605354211624	0.25733	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.68	1.82	0.24209	0.009000	0.13117	0.590000	0.19811	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.3558:0.6442:0.0:0.0	10.296	0.42806	723	0.55174	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004149	0.005051	0.000000	0.000000	0.000000	0.000000	0.018405	0.003788	0.05	608.43	38	chr2	74227546	.	C	T	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.629;DP=368;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.394;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,943	9	0	1	0
chr2	74416088	74416088	C	T	exonic	C2orf81	.	nonsynonymous SNV	C2orf81:NM_001145054:exon2:c.G181A:p.D61N,C2orf81:NM_001316764:exon2:c.G172A:p.D58N	.	417	1033	69	3	0	75	0.0350304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0096	0.00579073	0.0162	0.0019	0.0149	0.0017	0.0055	0.0139	0.0146	0.0245	0.0034346	531	154602	rs61999261	0.0098	0.0094	0.0093	0.0103	0.0233	0.0097	0.0096	0.0224	0.0220	0.0013	0.0036	0.0223	5.664e-05	0.0016	0.0164	0.0097	0.0093	0.0233	0.0068	0.0068	0.0069	0.0067	0.0217	0.0065	0.0063	0.0184	0.0171	0.0017	0.0471	0.0037	0.0239	0	0.0015	0.0272	0.0095	0.0071	0.0217	0.007	0.59928	D	0.009	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.015231	0.28305	N	0.169000	0.730451	0.81001	D	.	.	.	.	.	.	-3.34	0.66325	D	0.115	0.18239	-0.1785	0.78218	T	0.291	0.66259	T	9	0.0066019595	0.00149	T	.	.	.	0.170	0.43303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.48828	0.00664	T	-0.456571	0.26973	T	0.0132588402567505	0.00237	T	0.819918	0.47908	T	0.1454031	0.33332	0.16703159	0.38556	0.1454031	0.33332	0.16703159	0.38555	-8.235	0.62660	D	.	.	0.272	0.56638	B	.;.;.;.	.;.;.;.	4.460103	0.69407	25.4	0.99842137099818384	0.92229	0.66605	0.33136	D	AEFDBCI	0.322372	0.42488	N	0.617773032868231	0.74299	6.109054	0.587038929016393	0.74008	6.064898	0.999999996186617	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	4.99	4.99	0.65942	2.130000	0.41687	4.820000	0.45111	0.549000	0.26987	0.959000	0.33545	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	17.569	0.87828	532	0.73501	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023810	0.010638	0.000000	0.012605	0.000000	0.000000	0.075269	0.023810	0.1	3457.14	33	chr2	74416088	.	C	T	3457.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.89;DP=550;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.331;SOR=0.688	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,104,1660	8	0	2	0
chr2	74502754	74502754	G	T	exonic	LBX2	.	nonsynonymous SNV	LBX2:NM_001009812:exon1:c.C106A:p.R36S	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0455242050396	0.0006	0.00159744	0.0014	0.0002	0.0003	0.0001	0	0.0005	0.0022	0.0078	0.0011772	182	154602	rs138587545	0.0008	0.0008	0.0006	0.0010	0.0079	0.0008	0.0007	0.0074	0.0073	2.987e-05	0.0003	0.0030	2.519e-05	0	0.0021	0.0003	0.0009	0.0079	0.0006	0.0006	0.0005	0.0007	0.0070	0.0005	0.0004	0.0052	0.0045	0.0001	0	0.0003	0.0037	0.0002	0	0	0.0004	0.0005	0.0070	0.062	0.36912	T	0.993	0.02348	T	0.065	0.23521	B	0.019	0.18783	B	.	.	.	.	1	0.18878	N	.	.	.	-2.7	0.90509	D	0.78	0.01921	N	0.073	0.04668	-0.6967	0.60596	T	0.427	0.77048	T	8	0.0036043227	0.00065	T	0.045524	0.62022	D	0.090	0.26093	.	.	0.278043722374	0.27408	.	.	0.550974970066	0.51951	0.286294162273	0.08385	T	.	.	.	-0.470964	0.00838	T	-0.444156	0.28344	T	0.00920513070330675	0.00116	T	0.355164	0.08047	T	.	.	.	.	.	.	.	.	-3.483	0.16195	T	.	.	0.105	0.19073	B	.	.	0.682265	0.10509	7.221	0.68816365856188522	0.08776	0.58498	0.30658	D	AEFDBHCI	0.114301	0.22519	N	-0.959890525356503	0.09471	0.4484349	-1.02790645413203	0.09174	0.45495	0.999999437972909	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	2.88	1.97	0.25278	1.512000	0.35420	-0.080000	0.12189	0.606000	0.46413	0.012000	0.18695	0.000000	0.08366	0.004000	0.06068	0.0:0.2583:0.7417:0.0	7.812	0.28399	364	0.84707	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001012	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2626.43	214	chr2	74502754	.	G	T	2626.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.488;DP=531;ExcessHet=0;FS=0.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.071;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	9	0	1	0
chr2	74532698	74532698	G	A	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_013247:exon7:c.G1195A:p.G399S	3-methylglutaconic aciduria, type VIII, Autosomal recessive	1	1493	26	2	0	30	0.00994695	.	.	.	19380	not_provided|Parkinson_disease_13,_autosomal_dominant,_susceptibility_to	MedGen:C3661900|MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.788	.	0.0034	0.00359425	0.0044	0.0006	0.0016	0	0.0002	0.0040	0.0044	0.0144	0.0040685	629	154602	rs72470545	0.0040	0.0040	0.0035	0.0044	0.0145	0.0039	0.0038	0.0138	0.0135	0.0007	0.0016	0.0033	5.038e-05	0.0001	0.0080	0.0037	0.0037	0.0145	0.0027	0.0027	0.0025	0.0028	0.0129	0.0024	0.0024	0.0103	0.0094	0.0007	0.0022	0.0019	0.0043	0	9.423e-05	0.0204	0.0038	0.0024	0.0129	0.02	0.49613	D	0.021	0.58089	D	0.986	0.61523	D	0.936	0.67150	D	0.000014	0.62929	D	0.113567	0.999998	0.81001	A	2.31	0.66127	M	-1.95	0.85003	D	-2.13	0.48354	N	0.304	0.34336	0.540	0.91096	D	0.629	0.86985	D	9	0.009953827	0.00223	T	.	.	.	0.788	0.92988	.	.	0.93517315524	0.93450	0.7741013277673383	0.77360	1.36314406624	0.84392	0.395702064037	0.24471	T	0.329495	0.69979	T	-0.107422	0.35194	T	0.0845964	0.75886	D	0.0282974163263637	0.01731	T	0.940906	0.77861	D	0.41837454	0.61984	0.33673406	0.59472	0.41891634	0.62019	0.38411376	0.63359	-8.881	0.66927	D	0.3577732525459057	0.45448	0.263	0.49797	B	.	.	4.882135	0.80076	27.2	0.99865328837292089	0.94366	0.93935	0.59619	D	AEFBHCI	0.871255	0.79257	D	0.625185260027072	0.74771	6.189748	0.564910731327461	0.72443	5.810319	0.99999999520885	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.87	3.99	0.45527	4.924000	0.63118	10.013000	0.83102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0932:0.0:0.9068:0.0	10.694	0.45085	189	0.92630	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.015152	0.001359	0.005848	0.000000	0.000000	0.003049	0.022727	0.05	2156.43	37	chr2	74532698	.	G	A	2156.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.043;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	9	0	1	0
chr2	74679859	74679859	C	T	exonic	SEMA4F	.	nonsynonymous SNV	SEMA4F:NM_001271661:exon10:c.C1498T:p.R500W,SEMA4F:NM_001271662:exon13:c.C1864T:p.R622W,SEMA4F:NM_004263:exon14:c.C1963T:p.R655W	.	.	.	.	.	.	.	.	.	.	.	2684767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0175923680931	7.7e-05	0.000199681	0.0001	9.75e-05	0	0	0.0008	0.0001	0.0011	0	0.0001164	18	154602	rs149518003	7.046e-05	7.046e-05	7.215e-05	6.875e-05	4.496e-05	5.913e-05	5.522e-05	3.459e-05	3.121e-05	0	2.236e-05	0	0	0.0007	0	4.496e-05	0.0002	1.159e-05	7.22e-05	7.218e-05	0.0001	1.342e-05	5.88e-05	3.967e-05	3.124e-05	1.972e-05	1.124e-05	2.405e-05	0	0	0	0	0.0006	0	5.88e-05	0	0	0.0	0.91255	D	0.002	0.79402	D	0.985	0.68779	D	0.232	0.48638	B	0.000008	0.00162	N	12.335200	0.984224	0.25511	N	0.695	0.17993	N	2.01	0.25509	T	-2.58	0.55662	D	0.206	0.53972	-0.8787	0.49864	T	0.060	0.25127	T	10	0.06297827	0.08135	T	0.017592	0.39349	T	0.130	0.35528	.	.	0.302793454619	0.29890	0.34192018842741206	0.34105	0.668619433952	0.59308	0.28622508049	0.08375	T	0.096225	0.39781	T	-0.261649	0.12708	T	-0.421934	0.30852	T	0.211288546375224	0.21021	T	0.920908	0.71352	D	0.35457844	0.57421	0.28004616	0.53977	0.35457844	0.57422	0.28004616	0.53976	-3.136	0.11714	T	.	.	0.092	0.15475	B	.;.;.	.;.;.	3.506881	0.49089	22.7	0.99715119943083841	0.81633	0.56811	0.30213	D	AEFDBI	0.265728	0.38279	N	-0.123365154643979	0.36375	2.101837	-0.1272540325227	0.34296	1.971181	0.987110328714761	0.31187	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.11	5.11	0.69188	2.376000	0.43947	2.679000	0.34003	0.549000	0.26987	0.743000	0.29058	0.157000	0.23230	0.073000	0.16832	0.0:1.0:0.0:0.0	14.043	0.64205	103	0.95740	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1004.43	41	chr2	74679859	.	C	T	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=419;ExcessHet=0;FS=1.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.19;SOR=0.49	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	75687859	75687859	A	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon11:c.T1151A:p.I384N,GCFC2:NM_003203:exon11:c.T1658A:p.I553N	.	433	1059	29	1	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0065	0.00439297	0.0090	0.0011	0.0022	0	0.0210	0.0110	0.0110	0.0106	0.0085575	1323	154602	rs41286003	0.0089	0.0089	0.0086	0.0092	0.0221	0.0088	0.0087	0.0190	0.0178	0.0008	0.0033	0.0459	5.053e-05	0.0196	0.0221	0.0080	0.0095	0.0119	0.0080	0.0080	0.0072	0.0088	0.0118	0.0076	0.0075	0.0093	0.0085	0.0013	0.0011	0.0046	0.0556	0	0.0212	0.0136	0.0088	0.0071	0.0118	0.0	0.91255	D	0.001	0.83351	D	0.963	0.55692	D	0.837	0.59984	P	0.247990	0.15570	N	0.649855	0.707577	0.81001	D	1.76	0.45711	L	0.43	0.56772	T	-5.17	0.84105	D	0.674	0.68169	-1.0069	0.27881	T	0.111	0.39912	T	10	0.010547429	0.00234	T	.	.	.	0.444	0.74657	.	.	0.804346720858	0.80252	0.6978294067936864	0.69723	0.557126499698	0.52338	0.35052549839	0.17998	T	0.282542	0.65529	T	-0.324844	0.06509	T	-0.229997	0.51771	T	0.0485459195345418	0.05241	T	0.884012	0.60664	D	0.7522641	0.81000	0.8183412	0.89433	0.7522641	0.81002	0.8183412	0.89433	-11.018	0.79757	D	.	.	0.500	0.64970	A	.;.	.;.	3.175650	0.43089	21.7	0.9913156376359108	0.53275	0.94369	0.60946	D	AEFBI	0.322456	0.42494	N	0.115307806236015	0.47176	2.947072	0.153225531536175	0.47312	2.963415	0.98693433088627	0.31153	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	4.136000	0.57766	6.698000	0.56362	0.756000	0.94297	0.989000	0.36753	1.000000	0.68203	0.007000	0.07825	1.0:0.0:0.0:0.0	14.230	0.65432	951	0.11083	GC-rich sequence DNA-binding factor-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.010101	0.009511	0.032164	0.050000	0.000000	0.009146	0.022727	0.05	1063.43	41	chr2	75687859	.	A	T	1063.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.2;DP=412;ExcessHet=0;FS=1.585;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.692;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr2	75694401	75694401	C	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon6:c.G353A:p.R118H,GCFC2:NM_003203:exon6:c.G860A:p.R287H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0154860921682	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768819747	2.715e-05	4.659e-05	2.77e-05	2.659e-05	0.0001	1.971e-05	1.745e-05	4.812e-05	2.829e-05	0.0001	0	0	0	0	0	2.969e-05	1.894e-05	0	3.292e-05	3.285e-05	3.86e-05	2.696e-05	7.251e-05	1.263e-05	7.99e-06	1.923e-05	1.033e-05	7.251e-05	0	0	0	0	0	0	2.944e-05	0	0	0.004	0.65419	D	0.005	0.76473	D	0.671	0.41189	P	0.082	0.29098	B	0.000029	0.55875	N	0.118375	0.887949	0.81001	D	2.825	0.82220	M	2.35	0.16217	T	-2.86	0.60188	D	0.178	0.22486	-1.1030	0.03747	T	0.042	0.17952	T	10	0.22160521	0.38890	T	0.015486	0.36250	T	0.112	0.31546	0.591	0.71999	0.421550847248	0.41774	0.36285528683646373	0.36199	0.509939644612	0.49129	0.34860637784	0.17717	T	0.095056	0.39543	T	-0.211908	0.19111	T	-0.542167	0.18084	T	0.796099901199341	0.46090	D	0.854215	0.54540	D	0.13721517	0.31781	0.12743695	0.30676	0.13721517	0.31781	0.12743695	0.30675	-6.991	0.55438	T	.	.	0.084	0.12418	B	.;.	.;.	4.674612	0.74743	26.2	0.9989257226815994	0.96666	0.71319	0.34962	D	AEFBI	0.054647	0.09954	N	-0.0412426570035636	0.39994	2.367677	0.00653103605069172	0.40018	2.381623	0.0156504091857838	0.12738	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.29	3.49	0.39065	2.256000	0.42886	3.876000	0.40213	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8336:0.0:0.1664	10.104	0.41695	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	514.43	34	chr2	75694401	.	C	T	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.287;DP=354;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.38;SOR=0.502	GT:AD:DP:GQ:PL	0/0:38,0:38:90:0,90,1350	9	0	1	0
chr2	79158731	79158731	G	T	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.C115A:p.R39S,REG3A:NM_002580:exon3:c.C115A:p.R39S,REG3A:NM_138937:exon3:c.C115A:p.R39S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00112225708441	.	.	2.493e-05	0	0	0	0	4.524e-05	0	0	1.94e-05	3	154602	rs141740162	3.437e-06	0.0007	1.366e-06	5.532e-06	3.554e-05	1.01e-06	7.3e-07	9.44e-06	4.62e-06	0	2.28e-05	0	0	0	0	9.017e-07	0	3.554e-05	6.645e-06	0.0009	0	1.361e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.037403	0.24405	N	0.400827	1	0.08975	N	-2.765	0.00026	N	2.64	0.12780	T	3.27	0.00108	N	0.061	0.03502	-0.9351	0.43379	T	0.007	0.02244	T	10	0.08776298	0.15048	T	0.001122	0.01360	T	0.022	0.04323	.	.	0.0401082797425	0.02173	0.23763958079538905	0.23677	0.0547631763429	0.06061	0.20862942934	0.00754	T	0.021425	0.16689	T	-0.398869	0.02355	T	-0.810724	0.01649	T	0.0314632799417354	0.02220	T	0.0610939	0.00444	T	0.24203835	0.47127	0.078462504	0.17576	0.24203835	0.47126	0.078462504	0.17575	-1.334	0.01457	T	.	.	0.132	0.28778	B	.;.;.	.;.;.	0.622617	0.09910	6.670	0.71659157753313818	0.09704	0.00024	0.00244	N	AEFGI	0.042367	0.06565	N	-1.53127221375122	0.01647	0.07204684	-1.40102100368093	0.03242	0.1508413	1.10306997856234E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.83	2.66	0.30672	1.142000	0.31152	-0.207000	0.10889	-0.832000	0.02862	0.480000	0.26800	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.2961:0.7039	7.457	0.26440	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	395.43	34	chr2	79158731	.	G	T	395.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.11;DP=579;ExcessHet=0;FS=41.519;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.4;MQRankSum=-11.83;QD=2.13;ReadPosRankSum=-4.96;SOR=5.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	9	0	1	0
chr2	79158740	79158740	C	G	exonic	REG3A	.	nonsynonymous SNV	REG3A:NM_138938:exon2:c.G106C:p.A36P,REG3A:NM_002580:exon3:c.G106C:p.A36P,REG3A:NM_138937:exon3:c.G106C:p.A36P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00119945206927	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879246680	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.615e-06	9.867e-05	0	1.355e-05	2.434e-05	0	0	.	.	2.434e-05	0	0	0	0	0	0	0	0	0	0.581	0.05973	T	0.505	0.11004	T	0.0	0.02946	B	0.001	0.04355	B	0.535357	0.11593	N	0.756680	1	0.08975	N	-0.53	0.02533	N	2.42	0.15376	T	2.33	0.00281	N	0.054	0.02759	-0.9463	0.41599	T	0.018	0.07282	T	10	0.027589142	0.00903	T	0.001199	0.01558	T	0.004	0.00165	.	.	0.0716867268079	0.06686	0.33399060644688777	0.33312	0.0611122652635	0.06801	0.238550752401	0.02661	T	0.032509	0.22518	T	-0.424626	0.01599	T	-0.847722	0.00989	T	0.074214801539753	0.09230	T	0.079692	0.00587	T	0.15057418	0.34273	0.08919294	0.20842	0.15057418	0.34272	0.08919294	0.20841	-3.45	0.15738	T	.	.	0.069	0.03336	B	.;.;.	.;.;.	-1.318655	0.00423	0.008	0.77301282109243619	0.11819	0.00151	0.00912	N	AEFGI	0.031644	0.03426	N	-1.79722693943582	0.00552	0.02376501	-1.84703743509883	0.00620	0.02755625	2.8203287188887E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.62	-3.84	0.03976	-1.654000	0.02086	-3.050000	0.03106	-3.544000	0.00077	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0961:0.6064:0.1787:0.1188	6.578	0.21775	956	0.09877	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	183.43	34	chr2	79158740	.	C	G	183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=557;ExcessHet=0;FS=28.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.35;MQRankSum=-12.94;QD=1.09;ReadPosRankSum=-4.111;SOR=4.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	9	0	1	0
chr2	84441297	84441297	G	A	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon4:c.C481T:p.R161C	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	200020	not_provided|Mitochondrial_DNA_depletion_syndrome_9	MedGen:C3661900|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.737	0.0976499614704	0.0002	0.000199681	0.0004	9.612e-05	0	0	0	0.0003	0.0011	0.0016	0.0003363	52	154602	rs141331864	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0014	0.0013	0.0001	8.944e-05	0.0020	0	0.0001	0.0009	0.0001	0.0003	0.0016	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	9.708e-05	0.0007	0.0005	4.819e-05	0	6.55e-05	0.0023	0	0	0	0.0001	0	0.0015	0.119	0.28026	T	0.165	0.30926	T	0.994	0.66517	D	0.567	0.49782	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.825	0.82220	M	-2.54	0.89496	D	-4.36	0.76980	D	0.729	0.73015	0.457	0.89931	D	0.705	0.89834	D	10	0.30317804	0.47850	T	0.09765	0.76809	D	0.737	0.90852	.	.	0.976974186587	0.97672	0.8442613469123812	0.84387	0.0482655597038	0.05275	0.437933266163	0.30294	T	0.607788	0.87524	D	0.00165038	0.51880	T	0.189061	0.82514	D	0.337424993515015	0.26521	T	0.950805	0.81197	D	0.29183787	0.52163	0.23828743	0.49148	0.38430986	0.59627	0.30477297	0.56504	-6.407	0.49564	T	0.1886016363601669	0.24638	0.109	0.20934	B	.	.	5.120943	0.85650	28.7	0.99899953239732908	0.97199	0.97647	0.76137	D	AEFDBI	0.889855	0.82435	D	0.693869149899163	0.79230	7.034165	0.721947288452532	0.84045	8.18398	0.999999944863817	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	5.59	0.84677	7.896000	0.85926	9.845000	0.81950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.449	0.87480	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	960.43	34	chr2	84441297	.	G	A	960.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=416;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.048;SOR=0.558	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1343	9	0	1	0
chr2	85343737	85343737	C	T	exonic	RETSAT	.	nonsynonymous SNV	RETSAT:NM_017750:exon10:c.G1595A:p.G532D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.113573146805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.425	0.91960	M	-0.27	0.67367	T	-6.34	0.90937	D	0.982	0.99181	-0.0163	0.81916	T	0.456	0.78808	T	10	0.98149747	0.98178	D	0.113573	0.79213	D	0.795	0.93266	0.787	0.90993	0.745503425957	0.74321	0.9752254820984402	0.97512	0.474271358223	0.46618	0.597439885139	0.52543	T	0.510592	0.82689	D	0.385645	0.89068	D	0.316176	0.88930	D	0.996540307998657	0.89565	D	0.846115	0.52582	T	0.86968625	0.88836	0.80434054	0.88543	0.86968625	0.88838	0.80434054	0.88543	-13.969	0.92955	D	.	.	0.942	0.86088	P	.	.	4.864009	0.79626	27.1	0.99830548068296143	0.91198	0.95765	0.66059	D	AEFDGBCI	0.936151	0.93206	D	0.389701144181857	0.60862	4.280135	0.353343418086477	0.58710	4.043135	0.999999999968406	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	7.628000	0.82379	7.584000	0.61047	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	16.187	0.81775	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	819.43	58	chr2	85343737	.	C	T	819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.088;DP=378;ExcessHet=0;FS=2.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.743;SOR=0.425	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	9	0	1	0
chr2	85344131	85344131	-	GT	exonic	RETSAT	.	frameshift insertion	RETSAT:NM_017750:exon9:c.1400_1401insAC:p.Y468Pfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0004	0.0411	0	1.499e-05	0.0022	0.0016	3.84e-05	1	26028	rs774169688	0.0013	0.0015	0.0013	0.0013	0.0363	0.0013	0.0013	0.0348	0.0341	0.0002	0.0001	0	0.0363	0	0	3.867e-05	0.0042	0.0024	0.0022	0.0023	0.0019	0.0026	0.0545	0.0021	0.0020	0.0493	0.0472	0.0004	0	0.0008	0	0.0545	0	0	0.0001	0.0019	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3278.39	36	chr2	85344131	.	G	GGT	3278.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.576;DP=449;ExcessHet=0;FS=9.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.61;MQRankSum=-4.013;QD=24.65;ReadPosRankSum=-0.754;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1039:.	9	0	1	0
chr2	85344134	85344135	AG	-	exonic	RETSAT	.	frameshift deletion	RETSAT:NM_017750:exon9:c.1397_1398del:p.T466Sfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.0002	0.0004	0.0410	0	1.499e-05	0.0022	0.0016	3.84e-05	1	26028	rs759186033	0.0013	0.0015	0.0014	0.0013	0.0364	0.0013	0.0013	0.0349	0.0342	0.0002	0.0001	0	0.0364	0	0	3.867e-05	0.0042	0.0024	0.0022	0.0023	0.0019	0.0026	0.0546	0.0021	0.0020	0.0494	0.0473	0.0004	0	0.0008	0	0.0546	0	0	0.0001	0.0019	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3278.39	36	chr2	85344133	.	CAG	C	3278.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.041;DP=449;ExcessHet=0;FS=9.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.61;MQRankSum=-4.013;QD=24.65;ReadPosRankSum=-0.302;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1039:.	9	0	1	0
chr2	85401223	85401223	C	T	exonic	CAPG	.	nonsynonymous SNV	CAPG:NM_001256139:exon5:c.G458A:p.R153Q,CAPG:NM_001256140:exon5:c.G458A:p.R153Q,CAPG:NM_001320732:exon5:c.G458A:p.R153Q,CAPG:NM_001320733:exon5:c.G458A:p.R153Q,CAPG:NM_001320734:exon5:c.G458A:p.R153Q,CAPG:NM_001747:exon5:c.G458A:p.R153Q	.	388	1133	1	0	0	1	0.000441112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0120149818101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913957735	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	6.708e-05	0	0	1.872e-05	0.0003	9.892e-06	0	2.319e-05	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.044	0.50132	D	0.007	0.69154	D	1.0	0.90584	D	0.865	0.61524	P	0.004375	0.33816	N	0.316153	0.751396	0.33933	D	0.805	0.20218	L	-0.01	0.62762	T	0.5	0.03041	N	0.261	0.34336	-0.6514	0.62653	T	0.212	0.57294	T	10	0.19547835	0.35401	T	0.012015	0.30193	T	0.081	0.23632	0.616	0.75000	0.460352466543	0.45661	0.6123829610109239	0.61170	0.179260557738	0.20168	0.403360337019	0.25537	T	0.114428	0.43224	T	-0.115775	0.33816	T	-0.321214	0.42441	T	0.412994598288411	0.29429	T	0.825817	0.60169	T	0.26483718	0.49552	0.13337402	0.31983	0.26483718	0.49552	0.13337402	0.31982	-5.129	0.38211	T	.	.	0.091	0.18372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.348717	0.46180	22.3	0.99909749287776373	0.97949	0.33401	0.24819	N	AEFDBI	0.323379	0.42559	N	-0.215914393615208	0.32481	1.832215	-0.133161846160522	0.34063	1.955236	0.999997563886842	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.83	4.06	0.46572	2.083000	0.41239	1.415000	0.26314	0.599000	0.40250	0.998000	0.41325	0.662000	0.26021	0.969000	0.54022	0.0:0.8299:0.0:0.1701	8.897	0.34631	880	0.29376	Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1426.43	36	chr2	85401223	.	C	T	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.268;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=0.792;SOR=0.648	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1448	9	0	1	0
chr2	85552980	85552980	G	A	exonic	GGCX	.	nonsynonymous SNV	GGCX:NM_001142269:exon8:c.C1075T:p.R359C,GGCX:NM_000821:exon9:c.C1246T:p.R416C	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3815755	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.654	0.139117761361	.	.	2.471e-05	0	0	0.0001	0	1.498e-05	0	6.056e-05	2.59e-05	4	154602	rs751742099	4.105e-06	5.472e-06	4.084e-06	4.126e-06	2.519e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.598e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.022	0.57587	D	0.994	0.66517	D	0.67	0.53116	P	0.000048	0.53742	D	0.157296	0.999999	0.58761	D	1.79	0.46772	L	-3.02	0.92258	D	-2.1	0.47852	N	0.65	0.66101	0.650	0.92545	D	0.779	0.92505	D	10	0.6919238	0.71908	D	0.139118	0.82160	D	0.654	0.86986	0.594	0.72371	0.937555254981	0.93690	0.7282778525437841	0.72771	0.996463915584	0.74250	0.638124108315	0.58296	T	0.59871	0.87107	D	0.0218247	0.54627	T	-0.0372985	0.67884	D	0.717164218425751	0.41556	D	0.966203	0.87589	D	0.12863405	0.30066	0.093322866	0.22036	0.12863405	0.30066	0.093322866	0.22035	-9.295	0.69576	D	0.6709187007620729	0.74585	0.267	0.50101	B	.;.	.;.	5.044625	0.83989	28.2	0.99923407672963049	0.98917	0.91960	0.54637	D	AEFBI	0.695995	0.65448	D	0.577458763713903	0.71770	5.701593	0.604040849108782	0.75234	6.27445	0.999999985965612	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	3.520000	0.53221	7.551000	0.60274	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.827:0.173	11.991	0.52465	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2174.43	34	chr2	85552980	.	G	A	2174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=511;ExcessHet=0;FS=2.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.92;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1248	9	0	1	0
chr2	85556252	85556252	-	C	exonic	GGCX	.	frameshift insertion	GGCX:NM_001142269:exon4:c.376dupG:p.D126Gfs*8,GGCX:NM_000821:exon5:c.547dupG:p.D183Gfs*8	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1846.39	37	chr2	85556252	.	T	TC	1846.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=456;ExcessHet=0;FS=6.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.186;SOR=1.22	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	85888869	85888869	G	A	exonic	ST3GAL5	.	nonsynonymous SNV	ST3GAL5:NM_001363847:exon1:c.C37T:p.P13S,ST3GAL5:NM_003896:exon1:c.C37T:p.P13S	Salt and pepper developmental regression syndrome, Autosomal recessive	118	1380	22	2	0	26	0.00933238	.	.	.	190425	not_specified|not_provided|GM3_synthase_deficiency	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0018274,MedGen:C1836824,OMIM:609056,Orphanet:171714,Orphanet:370933	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	.	0.00359425	0.0179	0	0	0	.	0.0039	0.0323	0.0227	0.0013001	201	154602	rs559756386	0.0059	0.0054	0.0056	0.0063	0.0128	0.0058	0.0058	0.0120	0.0117	0.0005	0.0037	0.0027	4.047e-05	0.0003	0.0090	0.0061	0.0059	0.0128	0.0038	0.0038	0.0041	0.0035	0.0085	0.0035	0.0034	0.0064	0.0057	0.0010	0	0.0049	0.0032	0.0002	0	0.0068	0.0059	0.0019	0.0085	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.75	0.50192	T	-0.86	0.23372	N	0.149	0.15187	-0.9829	0.34328	T	0.105	0.38440	T	9	0.004235208	0.00085	T	.	.	.	0.033	0.08068	.	.	0.0986583533028	0.09354	0.251730667870659	0.25087	0.309480003285	0.33256	0.76358371973	0.76464	T	0.258071	0.62919	T	-0.548623	0.00297	T	-0.549805	0.17346	T	0.0176413779189942	0.00496	T	0.681532	0.29028	T	0.13136855	0.30623	0.14717874	0.34841	0.10799594	0.25535	0.14037877	0.33462	-3.326	0.14074	T	.	.	0.111	0.25721	B	.;.;.	.;.;.	2.901153	0.38450	20.7	0.99381755231615077	0.61935	0.02234	0.06487	N	ALL	0.051170	0.09013	N	-0.9793501486076	0.09045	0.4264989	-1.02068146948412	0.09330	0.4636108	0.999999998092424	0.74766	0.56387	0.32371	0	0.484254	0.07192	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	3.05	1.19	0.20120	0.114000	0.15353	0.528000	0.19223	0.567000	0.28720	0.002000	0.15269	0.805000	0.26985	0.214000	0.22296	0.1294:0.2246:0.646:0.0	4.620	0.11829	451	0.79296	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013158	0.000000	0.000000	0.021739	0.000000	0.000000	0.000000	0.057692	0.05	141.49	16	chr2	85888869	.	G	A	141.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.4;DP=100;ExcessHet=0;FS=0;InbreedingCoeff=-0.0581;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.869;SOR=0.754	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,99	9	0	1	0
chr2	86987000	86987000	A	T	exonic	RGPD1;RGPD2	.	nonsynonymous SNV	RGPD1:NM_001024457:exon20:c.A4077T:p.K1359N,RGPD2:NM_001078170:exon20:c.A4101T:p.K1367N,RGPD1:NM_001382344:exon20:c.A4101T:p.K1367N	.	140	1342	38	2	0	42	0.0154072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	.	0.0046	0.00319489	0.0257	0.0063	0.0236	0	0.0714	0.0294	0.0185	0.0464	0.0032535	503	154602	rs200614914	0.0085	0.0084	0.0083	0.0086	0.0129	0.0083	0.0083	0.0110	0.0108	0.0013	0.0041	0.0080	0	0.0050	0.0129	0.0091	0.0081	0.0116	0.0059	0.0058	0.0058	0.0059	0.0102	0.0055	0.0054	0.0079	0.0071	0.0019	0	0.0067	0.0078	0	0.0054	0.0068	0.0077	0.0035	0.0102	0.0	0.91255	D	0.01	0.65728	D	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.740104	0.33813	D	3.48	0.92553	M	0.56	0.54540	T	-3.94	0.73378	D	0.63	0.65930	-0.3505	0.73539	T	0.272	0.64318	T	9	0.013425499	0.00285	T	.	.	.	0.275	0.59130	0.695	0.83219	0.202086224978	0.19791	0.028640529261616688	0.02814	.	.	0.781320095062	0.79126	T	0.403098	0.75994	T	-0.306874	0.08026	T	-0.202549	0.54404	T	0.053325045628606	0.06074	T	0.985001	0.94819	D	0.62276155	0.73911	0.563675	0.74749	0.62276155	0.73912	0.563675	0.74750	-11.857	0.84147	D	.	.	0.859	0.80277	P	.;.;.;.	.;.;.;.	2.950365	0.39262	20.9	0.99837476353400023	0.91800	0.72485	0.35477	D	AEFI	0.369293	0.45608	N	0.314513138487155	0.56894	3.854849	0.115960413105428	0.45364	2.800929	2.12320490887038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.35	1.19	0.20120	1.054000	0.30064	1.076000	0.23848	0.359000	0.20063	1.000000	0.71638	0.992000	0.31684	0.915000	0.45038	0.8335:0.0:0.1665:0.0	5.292	0.15045	544	0.72685	Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain;Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005442	0.000000	0.007205	0.006329	0.000000	0.000000	0.004386	0.000000	0.05	2523.43	34	chr2	86987000	.	A	T	2523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.698;DP=618;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.38;MQRankSum=-1.783;QD=8.3;ReadPosRankSum=-1.335;SOR=0.79	GT:AD:DP:GQ:PL	0/1:173,131:304:99:2535,0,3551	9	0	1	0
chr2	87985747	87985747	G	A	exonic	RGPD1	.	nonsynonymous SNV	RGPD1:NM_001024457:exon1:c.C28T:p.R10C	.	577	943	2	0	0	2	0.00105932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.000787956150125	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs776102347	0.0001	0.0001	9.874e-05	0.0001	0.0013	9.261e-05	8.723e-05	0.0010	0.0009	0.0005	0.0003	3.837e-05	0.0013	0	0.0005	3.982e-05	0.0002	0.0002	0.0003	0.0003	0.0002	0.0004	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	0.0006	0	0.0006	0	0.0034	5.884e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001332	0.000000	0.002890	0.000000	0.000000	0.000000	0.004310	0.000000	0.05	1554.43	34	chr2	87985747	.	G	A	1554.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.146;DP=462;ExcessHet=0;FS=4.828;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.94;MQRankSum=-3.747;QD=9.96;ReadPosRankSum=-1.212;SOR=0.404	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1305	9	0	1	0
chr2	88185635	88185635	A	G	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_001244676:exon8:c.A1162G:p.R388G	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	0.0004	0.0205671	0.0110	0.0004	0	0.0582	0	0.0005	0.004	0.0255	0.0029236	452	154602	rs78406786	0.0042	0.0041	0.0035	0.0049	0.0903	0.0041	0.0041	0.0877	0.0866	0.0005	0.0003	0.0004	0.0903	0	0.0021	7.229e-05	0.0059	0.0274	0.0039	0.0040	0.0030	0.0049	0.0816	0.0037	0.0036	0.0752	0.0727	0.0007	0	6.541e-05	0.0012	0.0816	0	0	7.352e-05	0.0024	0.0278	0.01	0.56456	D	0.011	0.64786	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.45	0.15028	T	-1.37	0.33998	N	0.254	0.28732	-0.9769	0.35705	T	0.003	0.00897	T	8	0.0027230382	0.00042	T	.	.	.	0.002	0.00045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.736114	0.00022	T	-0.752675	0.03383	T	0.00241868275584893	0.00025	T	0.461354	0.13375	T	.	.	.	.	.	.	.	.	-3.009	0.10278	T	.	.	0.073	0.04599	B	.	.	-0.065437	0.03851	0.831	0.70762589050463065	0.09402	0.01210	0.04304	N	AEFBI	0.027904	0.02363	N	-1.42978601515509	0.02381	0.1050544	-1.59195034251812	0.01704	0.07743768	0.829203699471909	0.24662	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.5	-7.0	0.01443	-1.252000	0.02990	.	.	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2048:0.1505:0.4962:0.1485	3.262	0.06447	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1490.43	33	chr2	88185635	.	A	G	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.173;DP=472;ExcessHet=0;FS=1.275;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.156;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	0	1	0
chr2	88185647	88185647	G	A	exonic	THNSL2	.	nonsynonymous SNV	THNSL2:NM_001244676:exon8:c.G1174A:p.V392M	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0004	0.0205671	0.0111	0.0004	0	0.0582	0	0.0005	0.004	0.0255	0.0029107	450	154602	rs76505901	0.0042	0.0041	0.0035	0.0049	0.0902	0.0041	0.0041	0.0876	0.0865	0.0006	0.0003	0.0004	0.0902	0	0.0021	8.805e-05	0.0059	0.0274	0.0040	0.0040	0.0030	0.0050	0.0820	0.0037	0.0036	0.0755	0.0730	0.0007	0	0.0001	0.0012	0.0820	0	0	0.0001	0.0024	0.0278	0.343	0.12592	T	0.0	0.92824	D	0.022	0.18677	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	2.41	0.15492	T	-0.51	0.15986	N	0.188	0.20528	-0.9905	0.32475	T	0.003	0.00961	T	8	0.002952516	0.00048	T	.	.	.	0.019	0.03383	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.776464	0.00012	T	-0.810636	0.01651	T	0.000662787087488978	0.00006	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-5.167	0.38604	T	.	.	0.148	0.32613	B	.	.	-0.803286	0.01100	0.049	0.78178473227841427	0.12189	0.00742	0.03097	N	AEFBI	0.030221	0.03001	N	-1.40384328448825	0.02605	0.115257	-1.52476475536442	0.02155	0.09867761	0.0594787052251605	0.15163	0.516011	0.20929	0	0.610034	0.51514	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.77	-3.39	0.04563	-2.149000	0.01377	.	.	-2.922000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2893:0.2509:0.3325:0.1272	1.332	0.02007	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1891.43	33	chr2	88185647	.	G	A	1891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.37;DP=482;ExcessHet=0;FS=3.741;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.527;SOR=0.994	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	0	1	0
chr2	94588547	94588547	G	A	exonic	LOC100509620	.	nonsynonymous SNV	LOC100509620:NM_001382497:exon2:c.G26A:p.R9Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296780555	5.543e-06	7.609e-06	8.681e-06	2.66e-06	5.297e-05	1.3e-06	8.8e-07	7e-07	2.6e-07	5.297e-05	0	0	0	0	0	4.182e-06	0	1.642e-05	1.982e-05	1.97e-05	2.582e-05	1.353e-05	7.278e-05	5.27e-06	2.46e-06	1.93e-05	1.035e-05	7.278e-05	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3	0.87671	D	-0.73	0.20576	N	0.161	0.16864	.	.	.	.	.	.	.	0.15059444	0.28480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517648	0.16760	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.	.	2.890306	0.38275	20.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326000	0.19391	2.266000	0.31796	-0.428000	0.05209	0.470000	0.26722	0.994000	0.32194	0.031000	0.13245	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	232.43	17	chr2	94588547	.	G	A	232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.474;DP=208;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=32.34;MQRankSum=-1.504;QD=8.61;ReadPosRankSum=1.19;SOR=0.293	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,908	9	0	1	0
chr2	94871899	94871899	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.G320A:p.R107H	.	423	1087	12	0	0	12	0.00548948	.	.	.	2812081	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	.	0.0045	0.00319489	0.0072	0.0018	0.0025	0	0.0112	0.0096	0.0196	0.0060	0.0053169	822	154602	rs74673300	0.0078	0.0078	0.0078	0.0079	0.0088	0.0077	0.0077	0.0087	0.0086	0.0012	0.0024	0.0003	2.542e-05	0.0067	0.0075	0.0088	0.0080	0.0065	0.0053	0.0053	0.0051	0.0054	0.0083	0.0050	0.0048	0.0078	0.0075	0.0014	0.0263	0.0026	0	0.0002	0.0073	0	0.0083	0.0043	0.0050	0.767	0.03412	T	0.098	0.39040	T	0.691	0.41647	P	0.126	0.32692	B	0.038520	0.24278	N	0.384046	0.87021	0.28218	N	1.285	0.32305	L	4.14	0.02839	T	-1.3	0.32590	N	0.239	0.26957	-0.9077	0.47133	T	0.004	0.01295	T	10	0.0041588843	0.00082	T	.	.	.	0.072	0.21020	.	.	0.202086224978	0.19791	0.12697277987031708	0.12623	0.0508129208446	0.05582	0.661848664284	0.61674	T	0.018513	0.14910	T	-0.530605	0.00381	T	-0.525559	0.19733	T	0.00455010496487298	0.00049	T	0.693531	0.30321	T	0.06156582	0.12764	0.06961716	0.14691	0.06156582	0.12763	0.06961716	0.14691	-5.423	0.41140	T	.	.	0.075	0.05535	B	.	.	2.274328	0.29073	18.01	0.91063787544948394	0.20316	0.06532	0.12544	N	AEFDGBHI	0.039495	0.05745	N	-0.847915023401306	0.12101	0.5878423	-0.941391720520003	0.11123	0.5647563	0.942643753132318	0.27531	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	0.911	0.18471	0.743000	0.25899	0.329000	0.17264	0.486000	0.22242	0.183000	0.24101	0.010000	0.20010	0.282000	0.24066	0.1754:0.0:0.8246:0.0	6.357	0.20613	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009109	0.000000	0.006793	0.011696	0.000000	0.025862	0.009259	0.003788	0.05	1001.43	40	chr2	94871899	.	G	A	1001.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.952;DP=493;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.063;SOR=0.88	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1144	9	0	1	0
chr2	94871904	94871904	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_144705:exon1:c.A325G:p.M109V	.	423	1067	31	1	0	33	0.0152284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00122875723365	.	.	0.0001	0.0005	0	0	0	0.0001	0	0	0.0007568	117	154602	rs77824556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.301	0.20293	T	0.0	0.02946	B	0.0	0.01387	B	0.006010	0.32339	N	0.291643	1	0.08975	N	-1.705	0.00347	N	4.4	0.02215	T	1.17	0.01121	N	0.045	0.01740	-0.9369	0.43103	T	0.002	0.00707	T	10	0.02163878	0.00522	T	0.001229	0.01633	T	0.064	0.18567	.	.	0.107399877778	0.10242	0.11023828764567724	0.10952	0.0293419903988	0.03019	0.716191112995	0.69491	T	0.02647	0.19579	T	-0.332775	0.05903	T	-0.715784	0.05001	T	0.0280548110973322	0.01696	T	0.232777	0.03161	T	0.06496922	0.13836	0.09327323	0.22022	0.06496922	0.13836	0.09327323	0.22021	-2.804	0.08221	T	.	.	0.059	0.00793	B	.	.	0.636446	0.10050	6.799	0.4154982300263122	0.03005	0.05116	0.10920	N	AEFDGBHI	0.024169	0.01454	N	-1.39660453890581	0.02670	0.1182283	-1.38285152646484	0.03434	0.1601971	0.955553942976374	0.28196	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	1.84	-1.91	0.07225	1.406000	0.34254	2.690000	0.34081	-0.324000	0.05829	0.075000	0.22209	0.999000	0.35428	0.024000	0.12247	0.5824:0.2018:0.2158:0.0	4.088	0.09432	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019231	0.046875	0.023098	0.026316	0.000000	0.008621	0.037037	0.007576	0.05	38.43	40	chr2	94871904	.	A	G	38.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.338;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=-6.006;QD=0.37;ReadPosRankSum=-0.72;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1144:.	9	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:191,16:207:97:0|1:94876587_C_A:97,0,7955:94876587	3	0	7	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	591.14	300	chr2	94876599	.	C	T	591.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.31;DP=2159;ExcessHet=0.2348;FS=6.418;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.65;MQRankSum=-14.44;QD=1.02;ReadPosRankSum=-0.377;SOR=1.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:218,0:218:99:.:.:0,105,1800:.	8	0	2	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,45:290:99:0|1:94876587_C_A:1152,0,10152:94876587	2	0	8	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,56:322:99:0|1:94876587_C_A:1551,0,10899:94876587	1	0	9	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,73:378:99:0|1:94876671_A_G:2147,0,12428:94876671	1	0	9	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,73:380:99:0|1:94876671_A_G:2141,0,12501:94876671	1	0	9	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:318,57:375:99:928,0,7773	2	0	8	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3218.11	408	chr2	94876737	.	C	A	3218.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.43;DP=2132;ExcessHet=2.8389;FS=1.922;InbreedingCoeff=-0.3316;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.5;QD=1.67;ReadPosRankSum=-1.101;SOR=0.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,29:375:99:0|1:94876737_C_A:176,0,14338:94876737	5	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3284.14	401	chr2	94876740	.	A	C	3284.14	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.303;DP=2122;ExcessHet=2.8389;FS=1.912;InbreedingCoeff=-0.3332;MLEAC=5;MLEAF=0.25;MQ=57.08;MQRankSum=-12.57;QD=1.72;ReadPosRankSum=-1.808;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:344,29:373:99:0|1:94876737_C_A:182,0,14274:94876737	5	0	5	0
chr2	95149907	95149907	T	C	exonic	ZNF514	.	nonsynonymous SNV	ZNF514:NM_001318005:exon5:c.A797G:p.N266S,ZNF514:NM_032788:exon5:c.A578G:p.N193S	.	.	.	.	.	.	.	.	.	.	.	3934812	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.00129410648804	.	.	1.654e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs760752906	2.599e-05	2.599e-05	2.314e-05	2.888e-05	0.0031	1.932e-05	1.692e-05	0.0020	0.0017	2.987e-05	0	0	2.519e-05	0	0.0031	1.169e-05	4.967e-05	2.319e-05	1.313e-05	1.312e-05	0	2.687e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.305	0.14256	T	0.684	0.06033	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.395	0.03011	N	3.54	0.04799	T	-0.31	0.12099	N	0.093	0.07673	-0.9445	0.41895	T	0.009	0.03359	T	9	0.036886424	0.02011	T	0.001294	0.01784	T	0.008	0.00669	0.139	0.04277	0.202086224978	0.19791	0.009954929332146418	0.00957	0.0344876997802	0.03621	0.252298265696	0.04013	T	0.007305	0.06724	T	-0.548153	0.00299	T	-0.843633	0.01046	T	0.0445090506490873	0.04513	T	0.0310969	0.00196	T	0.020111077	0.00558	0.020771839	0.00154	0.020111077	0.00558	0.020771839	0.00154	-4.142	0.25907	T	.	.	0.073	0.04640	B	.;.	.;.	-0.582423	0.01620	0.111	0.5638992580161325	0.05542	0.00047	0.00373	N	AEFDBHCI	0.037725	0.05230	N	-1.4928207148878	0.01900	0.08338407	-1.53572316700936	0.02075	0.09492822	0.0620397683091703	0.15251	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.71	-2.38	0.06243	-0.994000	0.03827	.	.	-1.425000	0.01122	0.000000	0.06391	.	.	0.012000	0.09680	0.0:0.1882:0.3093:0.5025	4.630	0.11884	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1921.43	33	chr2	95149907	.	T	C	1921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.313;DP=517;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.702;SOR=0.641	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1175	9	0	1	0
chr2	95275993	95275993	G	A	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.G358A:p.V120M,PROM2:NM_001165978:exon3:c.G358A:p.V120M,PROM2:NM_144707:exon3:c.G358A:p.V120M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00827766716301	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294949925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.529	0.07048	T	0.476	0.12037	T	0.034	0.20480	B	0.059	0.26602	B	0.251461	0.15501	N	0.585786	0.999983	0.18198	N	1.725	0.44537	L	1.27	0.36146	T	0.52	0.02853	N	0.372	0.41459	-0.9770	0.35683	T	0.047	0.19958	T	10	0.20596513	0.36842	T	0.008278	0.21928	T	0.082	0.23913	0.713	0.84872	0.0297737177859	0.01360	0.4112654167763644	0.41042	0.34295715848	0.36226	0.385582566261	0.23045	T	0.006327	0.05765	T	-0.227224	0.17018	T	-0.564168	0.15988	T	0.0674886527935567	0.08295	T	0.691931	0.30130	T	0.023884032	0.01167	0.046522837	0.06502	0.023884032	0.01167	0.046522837	0.06502	-2.317	0.04650	T	.	.	0.124	0.26731	B	.;.;.	.;.;.	1.124282	0.15103	11.59	0.81187557590405368	0.13562	0.09527	0.15263	N	AEFDBCI	0.081175	0.16422	N	-1.49591583100846	0.01879	0.08241647	-1.45596716489262	0.02717	0.1254672	0.999960658250678	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.608075	0.38828	0	0.620846	0.47308	0	.	.	4.77	1.92	0.24912	0.794000	0.26619	3.327000	0.37595	-0.119000	0.14319	0.687000	0.28504	1.000000	0.68203	0.011000	0.09372	0.1731:0.1385:0.6884:0.0	7.491	0.26629	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1456.43	36	chr2	95275993	.	G	A	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.14;DP=438;ExcessHet=0;FS=1.445;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.125;SOR=0.876	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	9	0	1	0
chr2	95406973	95406973	G	A	exonic	FAHD2A	.	nonsynonymous SNV	FAHD2A:NM_016044:exon3:c.G278A:p.R93Q	.	.	.	.	.	.	.	.	.	.	.	3965693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00378682940063	7.7e-05	.	8.703e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs373739961	1.095e-05	1.094e-05	1.498e-05	6.877e-06	7.559e-05	6.48e-06	5.25e-06	2.004e-05	1.055e-05	0	0	0	7.559e-05	0	0	1.169e-05	0	0	2.628e-05	2.627e-05	3.853e-05	1.345e-05	7.236e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	1.47e-05	0	0	0.448	0.46129	T	0.694	0.57104	T	0.045	0.21781	B	0.019	0.18783	B	0.000013	0.62929	D	0.069040	0.976157	0.39251	D	2.255	0.64187	M	1.52	0.30669	T	-1.04	0.37375	N	0.68	0.68690	-1.0789	0.07563	T	0.062	0.25744	T	10	0.189769	0.34591	T	0.003787	0.08837	T	0.054	0.15330	.	.	0.356072328145	0.35220	0.5774194750465137	0.57670	0.642743152549	0.57834	0.606582641602	0.53834	T	0.053908	0.29574	T	-0.271755	0.11562	T	-0.446606	0.28071	T	0.336421967175082	0.26481	T	0.746025	0.40598	T	0.07032801	0.15481	0.071857944	0.15436	0.07032801	0.15481	0.071857944	0.15436	-6.133	0.47379	T	.	.	0.111	0.24464	B	.;.;.	.;.;.	3.617555	0.51181	23.1	0.99872319765186468	0.94989	0.94325	0.60806	D	AEFDBI	0.722339	0.67230	D	-0.185357189273209	0.33742	1.917903	-0.0771581307856302	0.36338	2.113355	0.77837911739838	0.23794	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.35	3.35	0.37468	7.390000	0.79098	7.510000	0.59607	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.525000	0.29590	0.0:0.0:1.0:0.0	12.539	0.55506	503	0.75780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1184.43	35	chr2	95406973	.	G	A	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.71;DP=429;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=-0.698;QD=10.12;ReadPosRankSum=-0.566;SOR=0.605	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	9	0	1	0
chr2	95482503	95482503	T	A	exonic	TRIM43B	.	nonsynonymous SNV	TRIM43B:NM_001164464:exon2:c.A212T:p.K71M	.	442	1068	11	1	0	13	0.00604933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0063	0.0005	0.0035	0	0	0.0003	0	0.0307	0.0005379	14	26028	rs528245128	0.0008	0.0008	0.0005	0.0012	0.0119	0.0008	0.0008	0.0113	0.0111	6.005e-05	0.0004	0.0001	0	0	0.0039	7.668e-05	0.0007	0.0119	0.0006	0.0006	0.0003	0.0008	0.0133	0.0005	0.0004	0.0106	0.0097	0.0002	0	0.0001	0	0	0	0	0.0002	0.0010	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.555	0.74557	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054166913	0.00119	T	.	.	.	.	.	.	.	.	.	0.19264921184376166	0.19182	.	.	0.39418014884	0.24257	T	0.114853	0.43298	T	.	.	.	.	.	.	.	.	.	0.642936	0.25461	T	0.13051194	0.30451	0.11577202	0.27948	0.13051194	0.30451	0.11577202	0.27948	-9.701	0.72102	D	.	.	0.505	0.64812	A	.;.	.;.	2.219473	0.28321	17.76	0.73550769003052718	0.10369	0.00851	0.03397	N	AEFI	.	.	.	.	.	.	.	.	.	2.58919883908351E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.063197	0.01477	0	0.058706	0.01089	0	0.0431032	0.02392	1.93	1.93	0.24985	-0.568000	0.06000	-0.327000	0.09919	0.364000	0.20138	0.001000	0.13787	0.000000	0.08366	0.016000	0.10718	0.0:0.1927:0.0:0.8073	3.706	0.07931	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002387	0.000000	0.004144	0.008929	0.000000	0.000000	0.000000	0.000000	0.05	1055.43	34	chr2	95482503	.	T	A	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.746;DP=377;ExcessHet=0;FS=3.578;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=32.35;MQRankSum=-2.379;QD=16.75;ReadPosRankSum=-1.941;SOR=1.222	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1280	9	0	1	0
chr2	95599427	95599427	C	G	exonic	TRIM43	.	nonsynonymous SNV	TRIM43:NM_138800:exon7:c.C1195G:p.P399A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00408865323176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.204e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.455	0.71248	M	-0.35	0.68616	T	-6.83	0.93020	D	0.166	0.17553	-0.6693	0.61860	T	0.411	0.75950	T	9	0.6900152	0.71797	D	0.004089	0.09775	T	0.168	0.42943	0.822	0.93461	0.65657956353	0.65371	0.02858168563135497	0.02808	3.36241963825	0.99660	0.470888495445	0.34803	T	0.136473	0.46887	T	-0.133226	0.30975	T	-0.429147	0.30033	T	0.793233692646027	0.45902	D	0.745225	0.36553	T	0.43590972	0.63138	0.29793727	0.55827	0.43590972	0.63139	0.29793727	0.55826	-11.305	0.81304	D	.	.	0.480	0.63642	A	.	.	2.382552	0.30587	18.48	0.97255023674632679	0.33061	0.00152	0.00917	N	AEFI	0.015989	0.00334	N	-0.274542262839768	0.30134	1.677481	-0.612236824090095	0.19178	1.027839	1.14875690113885E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.63	-0.485	0.11465	1.949000	0.39938	-0.124000	0.11690	0.389000	0.20474	0.048000	0.21332	0.000000	0.08366	0.594000	0.31239	0.0:0.4773:0.3104:0.2123	2.718	0.04871	470	0.78111	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	46.4	3	chr2	95599427	.	C	G	46.4	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=36.63;MQRankSum=-0.842;QD=9.28;ReadPosRankSum=-0.524;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,34:.	7	0	1	2
chr2	95853744	95853744	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon85:c.G6211A:p.D2071N	.	576	938	8	0	0	8	0.00424628	.	.	.	2812089	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	.	.	0.00339457	0.0109	0.0022	0.0103	0	0.0139	0.0162	0.0283	0.0060	0.0040879	632	154602	rs200478637	0.0079	0.0078	0.0079	0.0078	0.0089	0.0077	0.0077	0.0088	0.0087	0.0012	0.0020	0.0002	2.55e-05	0.0070	0.0061	0.0089	0.0076	0.0060	0.0050	0.0050	0.0049	0.0050	0.0082	0.0047	0.0046	0.0076	0.0074	0.0013	0.0011	0.0021	0	0.0002	0.0076	0.0034	0.0082	0.0038	0.0054	0.042	0.41637	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.33	0.35031	T	-3.32	0.66085	D	0.114	0.10198	-1.0126	0.26101	T	0.067	0.27606	T	7	0.007240534	0.00165	T	.	.	.	0.042	0.11227	.	.	0.148003135375	0.14442	0.006613167483073264	0.00629	.	.	.	.	.	0.009109	0.08314	T	-0.638495	0.00085	T	-0.681969	0.06864	T	0.0275934983580231	0.01629	T	0.506949	0.16072	T	0.12760265	0.29856	0.15584525	0.36514	0.12760265	0.29856	0.15584525	0.36513	-2.763	0.07847	T	.	.	0.125	0.39714	B	.;.	.;.	2.340906	0.30003	18.30	0.96583531233881226	0.30344	0.08706	0.14596	N	AEFI	0.034489	0.04281	N	-0.414433744048988	0.24963	1.351654	-0.524165838693188	0.21497	1.163222	8.80255561803755E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	2.19	-0.102	0.12951	1.569000	0.36037	0.346000	0.17429	0.284000	0.18682	0.721000	0.28831	0.000000	0.08366	0.027000	0.12703	0.0:0.509:0.2968:0.1942	2.951	0.05502	256	0.89942	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	426.43	35	chr2	95853744	.	C	T	426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=364;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=0.45;QD=8.05;ReadPosRankSum=1.21;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	9	0	1	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:132,63:195:99:1491,0,3317	0	0	10	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	2496.4	201	chr2	95855406	.	C	G	2496.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.676;DP=2375;ExcessHet=2.8389;FS=5.12;InbreedingCoeff=-0.3061;MLEAC=4;MLEAF=0.2;MQ=53.72;MQRankSum=-6.642;QD=2.08;ReadPosRankSum=-2.045;SOR=1.277	GT:AD:DP:GQ:PL	0/1:202,32:234:99:349,0,5806	5	0	5	0
chr2	95855532	95855532	T	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5827C:p.I1943L	.	432	980	109	1	0	111	0.0535973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	.	.	0.0326	0.0706	0.0182	0.0090	0.0231	0.0311	0.0376	0.0445	7.68e-05	2	26028	rs112858216	6.854e-07	6.156e-06	1.364e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0	1.313e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.119	0.28026	T	0.037	0.51737	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.54	0.13916	T	-0.89	0.24026	N	0.187	0.20395	-0.9674	0.37733	T	0.013	0.04843	T	7	0.0037541986	0.00070	T	.	.	.	0.005	0.00259	0.247	0.18293	.	.	0.029755129249007927	0.02924	.	.	.	.	.	0.001717	0.01139	T	-0.373008	0.03445	T	-0.773577	0.02653	T	0.00218303418063386	0.00023	T	0.340666	0.07366	T	0.044085097	0.06984	0.046755914	0.06587	0.044085097	0.06984	0.046755914	0.06587	-3.964	0.23263	T	.	.	0.161	0.35498	B	.	.	-0.079786	0.03764	0.785	0.7016925376513895	0.09208	0.01678	0.05360	N	AEFI	0.043258	0.06816	N	-1.01735734093612	0.08243	0.3858304	-1.18373099282675	0.06180	0.2967244	2.11620199757736E-5	0.03498	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.636168	0.56350	0	.	.	2.11	-2.62	0.05793	-0.723000	0.05056	-11.676000	0.00585	0.312000	0.19173	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1943:0.1355:0.1985:0.4718	0.732	0.00897	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	34.17	323	chr2	95855532	.	T	G	34.17	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.484;DP=3032;ExcessHet=0.2348;FS=0.95;InbreedingCoeff=-0.1087;MLEAC=2;MLEAF=0.1;MQ=45;MQRankSum=-2.278;QD=0.05;ReadPosRankSum=-0.614;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:333,25:358:37:0|1:95855523_G_C:37,0,13648:95855523	8	0	2	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:160,163:323:99:3905,0,3961	0	0	10	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:157,113:270:99:3119,0,4194	0	0	10	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:229,26:255:68:68,0,8516	2	0	8	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:153,91:244:99:2394,0,4116	0	0	10	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	3460.98	101	chr2	95859895	.	T	C	3460.98	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.147;DP=709;ExcessHet=7.0302;FS=1.515;InbreedingCoeff=-0.5391;MLEAC=7;MLEAF=0.35;MQ=58.18;MQRankSum=-1.883;QD=7.09;ReadPosRankSum=-0.362;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,9:60:99:.:.:149,0,2091:.	3	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:99:0|1:95859969_A_AT:237,0,2867:95859969	0	0	10	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:99:0|1:95859969_A_AT:237,0,2867:95859969	0	0	10	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,10:80:99:0|1:95859969_A_AT:206,0,2860:95859969	0	0	10	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:68,9:77:99:174,0,1650	0	0	10	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,7:71:99:0|1:95860002_T_A:101,0,2568:95860002	0	0	10	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,7:67:99:0|1:95860002_T_A:113,0,2467:95860002	0	0	10	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,6:59:92:0|1:95860020_G_A:92,0,2116:95860020	0	0	10	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,6:58:95:0|1:95860020_G_A:95,0,2082:95860020	0	0	10	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:39,2:41:33:0|1:95860034_T_C:0,33,1645:95860034	1	0	9	0
chr2	95891667	95891667	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.G3950C:p.R1317T	.	.	.	.	.	.	.	.	0	0.096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00258919318193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1243857325	1.424e-06	0.0001	2.816e-06	0	2.71e-05	2.4e-07	9e-08	.	.	0	0	0	2.71e-05	0	0	9.245e-07	0	0	0	0.0014	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	0.578	0.08565	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	0.12	0.05604	N	0.068	0.08227	-0.9759	0.35926	T	0.147	0.47255	T	5	0.121881336	0.23111	T	0.002589	0.05235	T	0.084	0.24469	0.235	0.16457	0.393927044628	0.39002	0.0011482701666540294	0.00105	.	.	.	.	.	3.93E-4	0.00124	T	-0.222048	0.17715	T	-0.556733	0.16685	T	0.0224473349077403	0.00959	T	0.29847	0.08399	T	0.06482349	0.13793	0.07730457	0.17207	0.06482349	0.13792	0.07730457	0.17207	-0.2	0.05226	T	.	.	0.083	0.09045	B	.;.	.;.	-1.006024	0.00763	0.024	0.091701984728260702	0.00087	0.00008	0.00134	N	AEFBI	0.017924	0.00505	N	-0.606577077572815	0.18744	0.9757046	-1.03367257472638	0.09050	0.4481512	9.37543306615869E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-0.448	0.11620	-0.076000	0.11374	-4.777000	0.01991	-2.671000	0.00217	0.154000	0.23713	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	36.43	105	chr2	95891667	.	C	G	36.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=425;ExcessHet=0;FS=10.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.57;MQRankSum=-10.18;QD=0.35;ReadPosRankSum=-1.409;SOR=2.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	9	0	1	0
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	79.43	118	chr2	95891674	.	T	A	79.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=440;ExcessHet=0;FS=4.501;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.09;MQRankSum=-10.79;QD=0.67;ReadPosRankSum=-2.431;SOR=1.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	9	0	1	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,22:137:99:0|1:95927222_G_GAT:578,0,4763:95927222	0	0	10	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,27:152:99:0|1:95927222_G_GAT:757,0,5167:95927222	0	0	10	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,36:170:99:0|1:95927222_G_GAT:1108,0,5518:95927222	0	0	10	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,73:213:99:0|1:95927222_G_GAT:2644,0,5659:95927222	0	0	10	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,93:253:99:0|1:95927222_G_GAT:3403,0,6345:95927222	0	0	10	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:170,96:266:99:0|1:95927222_G_GAT:3438,0,6600:95927222	0	0	10	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,28:137:99:0|1:95929092_T_C:832,0,4451:95929092	0	0	10	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,31:159:99:0|1:95929092_T_C:916,0,5261:95929092	0	0	10	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,43:182:99:0|1:95929092_T_C:1387,0,5707:95929092	0	0	10	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,45:185:99:0|1:95929092_T_C:1468,0,5743:95929092	0	0	10	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,47:188:99:0|1:95929092_T_C:1533,0,5759:95929092	0	0	10	0
chr2	95951362	95951362	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon15:c.G1250A:p.R417Q	.	501	1015	6	0	0	6	0.00294695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00110601870664	.	.	0.0004	0.0005	0.0032	0	0	0.0001	0	0.0006	5.17e-05	8	154602	rs764520854	0.0004	0.0004	0.0003	0.0004	0.0100	0.0004	0.0003	0.0079	0.0072	0.0002	5.642e-05	0	0	0	0.0100	0.0003	0.0007	0.0011	2.625e-05	0.0002	5.139e-05	0	2.941e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.404e-05	0	0	0	0	0	0.0035	2.941e-05	0	0	0.005	0.63226	D	0.358	0.17064	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.06	0.07882	N	0.063	0.03502	-0.9920	0.32089	T	0.019	0.07986	T	7	0.01371339	0.00290	T	0.001106	0.01312	T	0.022	0.04323	.	.	0.0611884634855	0.05136	0.028975358193557562	0.02846	.	.	.	.	.	5.88E-4	0.00238	T	-0.342391	0.05224	T	-0.729597	0.04346	T	0.0212221018957338	0.00824	T	0.361564	0.08348	T	0.03911022	0.05340	0.052625135	0.08707	0.03911022	0.05340	0.052625135	0.08707	-0.925	0.00920	T	.	.	0.149	0.32898	B	.	.	0.720994	0.10903	7.572	0.75718196470351151	0.11184	0.00003	0.00079	N	AEFGI	0.011839	0.00114	N	-1.21164332267425	0.04830	0.2188168	-1.36370086725924	0.03647	0.170554	4.81969164375533E-5	0.03989	0.581397	0.33459	0	0.78372	0.99691	0	0.463624	0.06942	0	0.636168	0.56350	0	.	.	1.45	-1.23	0.08977	0.405000	0.20738	0.494000	0.18929	-0.250000	0.07158	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.4321:0.0:0.5679	4.336	0.10527	265	0.89590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	363.43	382	chr2	95951362	.	C	T	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.119;DP=2707;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.46;MQRankSum=4.43;QD=1.86;ReadPosRankSum=-0.757;SOR=0.824	GT:AD:DP:GQ:PL	0/0:219,0:219:99:0,120,1800	9	0	1	0
chr2	96023428	96023428	G	A	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon17:c.C1714T:p.R572W,GPAT2:NM_001321530:exon17:c.C1696T:p.R566W,GPAT2:NM_001321525:exon18:c.C1927T:p.R643W,GPAT2:NM_001321526:exon18:c.C1927T:p.R643W,GPAT2:NM_001321527:exon18:c.C1927T:p.R643W,GPAT2:NM_001321528:exon18:c.C1927T:p.R643W,GPAT2:NM_207328:exon18:c.C1909T:p.R637W	.	419	1077	26	0	0	26	0.0119266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.236313734747	0.0013	0.00219649	0.0023	0.0002	0.0005	0	0.0003	0.0027	0.0022	0.0053	0.0021151	327	154602	rs200494170	0.0025	0.0025	0.0023	0.0027	0.0068	0.0024	0.0024	0.0058	0.0056	0.0004	0.0004	0.0026	5.038e-05	0.0004	0.0068	0.0025	0.0026	0.0062	0.0019	0.0019	0.0019	0.0018	0.0066	0.0017	0.0016	0.0048	0.0042	0.0004	0	0.0009	0.0029	0	0.0003	0.0068	0.0030	0.0014	0.0066	0.025	0.49117	D	0.012	0.63918	D	0.038	0.23653	B	0.01	0.15521	B	0.175141	0.17260	N	0.598876	1	0.81001	D	2.14	0.59869	M	-1.13	0.77719	T	-2.13	0.48354	N	0.288	0.32591	-0.6271	0.63693	T	0.245	0.61331	T	10	0.0079962015	0.00181	T	0.236314	0.88494	D	0.244	0.55061	.	.	0.684805705286	0.68211	0.24416334672272652	0.24330	1.16178190297	0.79509	0.394804805517	0.24345	T	0.022516	0.17347	T	-0.315594	0.07264	T	-0.223909	0.52359	T	0.0303656412644803	0.02046	T	0.793221	0.43505	T	0.06585315	0.14113	0.09652142	0.22937	0.06585315	0.14112	0.09652142	0.22937	-4.513	0.31058	T	.	.	0.085	0.10400	B	.;.;.	.;.;.	1.234254	0.16293	12.45	0.9948997075661955	0.67403	0.73598	0.36000	D	AEFDGBI	0.398685	0.47427	N	-0.329723344391948	0.28025	1.542328	-0.23194115769066	0.30398	1.711248	0.487886500102385	0.20838	0.533608	0.22052	0	0.615948	0.52940	0	0.514364	0.09456	0	0.638833	0.57524	0	.	.	5.44	4.55	0.55429	0.950000	0.28720	0.803000	0.21677	-0.145000	0.12313	0.174000	0.23986	0.200000	0.23563	0.011000	0.09372	0.0:0.0:0.8237:0.1763	11.693	0.50789	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.008772	0.000000	0.000000	0.003049	0.015152	0.05	1347.43	39	chr2	96023428	.	G	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=478;ExcessHet=0;FS=1.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.005;SOR=0.838	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1467	9	0	1	0
chr2	96289939	96289939	T	C	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon21:c.A2800G:p.T934A	Retinitis pigmentosa 33, Autosomal dominant	0	1491	27	4	0	35	0.0116009	.	.	YES	176954	Retinitis_pigmentosa_33|Retinal_dystrophy|not_specified|not_provided|Retinitis_pigmentosa	MONDO:MONDO:0012477,MedGen:C1835895,OMIM:610359,Orphanet:791|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0002	0.00439297	0.0030	0.0002	0.0003	0	0	0.0006	0.0022	0.0196	0.0026584	411	154602	rs149616320	0.0014	0.0014	0.0009	0.0019	0.0166	0.0014	0.0013	0.0159	0.0156	8.961e-05	0.0003	0	0	1.872e-05	0.0047	0.0004	0.0015	0.0166	0.0010	0.0010	0.0008	0.0011	0.0166	0.0008	0.0008	0.0137	0.0126	0.0002	0	0.0002	0	0.0002	0	0.0034	0.0007	0.0014	0.0166	0.928	0.02262	T	0.834	0.03674	T	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.62929	D	0.055481	0.999988	0.81001	D	0.63	0.15941	N	-0.25	0.67011	T	-1.47	0.35991	N	0.184	0.19995	-0.9045	0.47504	T	0.163	0.49963	T	10	0.010088056	0.00226	T	.	.	.	0.165	0.42395	.	.	0.436739265542	0.43292	0.5706196549623248	0.56989	0.94614905809	0.72416	0.64514040947	0.59295	T	0.226826	0.59195	T	-0.382492	0.03005	T	-0.30792	0.43882	T	0.0235686665673508	0.01092	T	0.781022	0.41604	T	0.32588062	0.55131	0.2603615	0.51798	0.32588062	0.55131	0.2603615	0.51797	-7.187	0.55388	T	0.1834308797246747	0.23745	0.067	0.02609	B	.	.	3.030621	0.40590	21.2	0.67612076650963937	0.08406	0.93456	0.58265	D	AEFDBCI	0.428187	0.49182	N	-0.252644075754081	0.30998	1.73384	-0.0173378992172096	0.38931	2.300858	0.999995431897257	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	2.233000	0.42672	4.134000	0.42048	0.665000	0.62972	0.988000	0.36536	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.070	0.71702	291	0.88420	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.001359	0.002924	0.100000	0.000000	0.003049	0.018939	0.05	1198.43	35	chr2	96289939	.	T	C	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.6;DP=421;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.222;SOR=0.846	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1146	9	0	1	0
chr2	96354198	96354198	G	A	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon8:c.G610A:p.V204I,NCAPH:NM_001281710:exon9:c.G985A:p.V329I,NCAPH:NM_001281711:exon9:c.G946A:p.V316I,NCAPH:NM_015341:exon9:c.G1018A:p.V340I	.	432	1082	8	0	0	8	0.00368324	.	.	.	3211553	NCAPH-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0055618827627	.	0.00119808	0.0009	0	0.0002	0	0.0002	7.502e-05	0.0022	0.0063	0.0007891	122	154602	rs536560583	0.0004	0.0004	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	4.473e-05	0	2.52e-05	5.616e-05	0.0019	6.025e-05	0.0005	0.0058	0.0003	0.0003	0.0001	0.0004	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0	7.35e-05	0.0005	0.0068	0.23	0.18308	T	0.351	0.36365	T	0.009	0.17989	B	0.017	0.19966	B	0.004686	0.33486	N	0.311859	0.903236	0.27659	N	1.555	0.39373	L	0.94	0.43672	T	0.04	0.06488	N	0.057	0.02964	-1.0486	0.14790	T	0.079	0.31466	T	10	0.009620041	0.00217	T	0.005562	0.14349	T	0.027	0.05988	0.493	0.58048	0.360163838653	0.35632	0.0839256415918071	0.08326	0.162679693252	0.18360	0.395833849907	0.24489	T	0.024314	0.18398	T	-0.586084	0.00177	T	-0.61245	0.11786	T	0.0147583170771568	0.00309	T	0.730127	0.34567	T	0.025312321	0.01455	0.043337874	0.05370	0.028445465	0.02183	0.040646534	0.04439	-3.93	0.22753	T	0.14988255244189536	0.17562	0.087	0.17953	B	.;.;.;.	.;.;.;.	1.788000	0.22733	15.74	0.97489165973505298	0.34230	0.64636	0.32472	D	AEFDBHCI	0.092251	0.18679	N	-0.324180257178981	0.28233	1.555503	-0.213028626270591	0.31066	1.754797	0.999956754152261	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.08	2.08	0.26079	-0.085000	0.11215	1.572000	0.27423	0.676000	0.76740	0.929000	0.32243	1.000000	0.68203	0.979000	0.57723	0.2839:0.0:0.5368:0.1792	3.464	0.07111	287	0.88635	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	2256.14	35	chr2	96354198	.	G	A	2256.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.404;DP=497;ExcessHet=0.2348;FS=3.926;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.004;SOR=0.487	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1247	8	0	2	0
chr2	96551460	96551460	G	A	exonic	ARID5A	.	nonsynonymous SNV	ARID5A:NM_001319093:exon6:c.G440A:p.R147Q,ARID5A:NM_001319096:exon6:c.G440A:p.R147Q,ARID5A:NM_001319085:exon7:c.G1094A:p.R365Q,ARID5A:NM_001319087:exon7:c.G1091A:p.R364Q,ARID5A:NM_001319092:exon7:c.G728A:p.R243Q,ARID5A:NM_001319094:exon7:c.G440A:p.R147Q,ARID5A:NM_212481:exon7:c.G932A:p.R311Q	.	12	1490	19	1	0	21	0.00699767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0077247946636	0.0002	0.000998403	0.0021	0.0005	0	0	0	0.0004	0.0023	0.0081	0.0009185	142	154602	rs202219610	0.0007	0.0007	0.0005	0.0009	0.0067	0.0006	0.0006	0.0063	0.0061	6.088e-05	0.0002	0.0026	2.607e-05	0	0.0030	0.0002	0.0008	0.0067	0.0005	0.0005	0.0004	0.0005	0.0060	0.0004	0.0003	0.0043	0.0037	4.813e-05	0	0.0004	0.0026	0.0002	0	0	0.0003	0.0014	0.0060	0.912	0.02407	T	0.681	0.06762	T	0.001	0.07471	B	0.003	0.08700	B	0.524851	0.05223	N	1.299680	1	0.08975	N	0.425	0.12573	N	-0.1	0.64264	T	-0.03	0.07444	N	0.052	0.03175	-1.0449	0.15854	T	0.100	0.37290	T	10	0.0034110546	0.00060	T	0.007725	0.20483	T	0.046	0.12618	.	.	0.386522206555	0.38262	0.08060890171235377	0.07995	0.163533553408	0.18441	0.211388140917	0.00871	T	0.013025	0.11342	T	-0.565486	0.00235	T	-0.581472	0.14415	T	0.000941750006319852	0.00009	T	0.663534	0.27241	T	0.012754522	0.00041	0.02262769	0.00284	0.012754522	0.00041	0.02262769	0.00284	-3.529	0.16840	T	.	.	0.067	0.03964	B	.;.	.;.	-0.105963	0.03606	0.708	0.85316935220186529	0.15817	0.16084	0.19223	N	AEFBCI	0.069084	0.13659	N	-1.27119278921302	0.04026	0.1809841	-1.17909938010335	0.06259	0.3007581	0.999655942333059	0.41424	0.706548	0.73137	0	0.697927	0.68747	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.59	0.287	0.14965	-1.108000	0.03423	-0.878000	0.07076	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.685000	0.33688	0.5588:0.0:0.4412:0.0	6.639	0.22089	207	0.91931	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006085	0.005155	0.006831	0.005917	0.000000	0.008621	0.003086	0.011364	0.05	411.43	33	chr2	96551460	.	G	A	411.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.732;DP=291;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.928;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:72:.:.:0,72,1080:.	9	0	1	0
chr2	96711770	96711770	T	G	exonic	LMAN2L	.	nonsynonymous SNV	LMAN2L:NM_001322351:exon4:c.A235C:p.I79L,LMAN2L:NM_001322350:exon5:c.A256C:p.I86L,LMAN2L:NM_001322356:exon5:c.A235C:p.I79L,LMAN2L:NM_001322346:exon6:c.A268C:p.I90L,LMAN2L:NM_001322347:exon6:c.A289C:p.I97L,LMAN2L:NM_001322354:exon6:c.A268C:p.I90L,LMAN2L:NM_001322355:exon6:c.A235C:p.I79L,LMAN2L:NM_030805:exon6:c.A670C:p.I224L,LMAN2L:NM_001142292:exon7:c.A703C:p.I235L,LMAN2L:NM_001322352:exon8:c.A289C:p.I97L	.	9	1512	1	0	0	1	0.000330579	0.0043	0.06	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.251	0.23638	T	0.013	0.16609	B	0.074	0.28220	B	0.000004	0.62929	D	0.102401	0.999998	0.58761	D	-0.29	0.03673	N	-0.02	0.62918	T	-1.48	0.36189	N	0.419	0.45898	-1.0595	0.11880	T	0.115	0.40853	T	10	0.19318011	0.35077	T	0.026399	0.49309	D	0.043	0.11576	0.667	0.80502	0.420939154896	0.41709	0.5817279084307733	0.58101	0.21794056729	0.24331	0.578453779221	0.49868	T	0.122649	0.44646	T	-0.0696926	0.41376	T	-0.337885	0.40585	T	0.62879353761673	0.37568	D	0.89811	0.64401	D	0.18495649	0.39835	0.14544567	0.34494	0.18495649	0.39835	0.14544567	0.34493	-5.3	0.43039	T	.	.	0.249	0.48397	B	.;.	.;.	2.339718	0.29980	18.30	0.96547682371894195	0.30211	0.95407	0.64599	D	AEFDBI	0.609373	0.59860	D	-0.430274917419804	0.24415	1.318053	-0.234773110018719	0.30299	1.704804	0.497255707965657	0.20913	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	3.47	0.38831	1.459000	0.34844	1.141000	0.24405	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.1473:0.0:0.8527	9.382	0.37483	187	0.92701	Legume-like lectin|Legume-like lectin;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2194.43	171	chr2	96711770	.	T	G	2194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.018;DP=491;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.579;SOR=0.851	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	9	0	1	0
chr2	96864738	96864738	T	G	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon9:c.A929C:p.N310T	.	0	1520	2	0	0	2	0.000657462	.	.	.	2762550	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00767349279622	0.0002	.	0.0002	0.0005	0	0.0001	0	0.0002	0	0	0.0001488	23	154602	rs372109047	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	0	5.043e-05	0	0.0003	0.0002	8.291e-05	5.8e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0.0003	0	0	0	0.0001	0	0.0002	0.551	0.06564	T	0.511	0.10785	T	0.026	0.19406	B	0.065	0.27321	B	0.000646	0.42656	D	0.276538	0.613601	0.32643	D	1.66	0.42513	L	1.49	0.31470	T	-1.04	0.27259	N	0.316	0.35620	-1.0003	0.29831	T	0.054	0.22731	T	10	0.06586525	0.08949	T	0.007673	0.20352	T	0.057	0.16321	.	.	0.279809986126	0.27602	0.44951542897061547	0.44869	1.41684164526	0.85530	0.406821936369	0.26018	T	0.092532	0.39024	T	-0.513598	0.00479	T	-0.606775	0.12248	T	0.0341659188163968	0.02665	T	0.628837	0.24395	T	0.13705213	0.31748	0.062833816	0.12354	0.13705213	0.31748	0.062833816	0.12354	-7.811	0.59775	D	.	.	0.145	0.31980	B	.	.	2.160260	0.27519	17.49	0.96616182633566217	0.30463	0.85340	0.44463	D	AEFDBHCI	0.362258	0.45158	N	-0.18217442500794	0.33878	1.927048	0.0341075819472175	0.41311	2.479736	0.999944110554295	0.47345	0.631515	0.41029	0	0.552637	0.17590	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.97	5.97	0.96935	0.839000	0.27239	5.066000	0.47133	0.665000	0.62972	0.535000	0.27228	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1507:0.8493	11.434	0.49301	115	0.95340	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1954.43	35	chr2	96864738	.	T	G	1954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.333;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.295;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1319	9	0	1	0
chr2	97090187	97090187	C	A	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon3:c.G384T:p.K128N,FAHD2B:NM_199336:exon3:c.G384T:p.K128N,FAHD2B:NM_001320848:exon4:c.G384T:p.K128N	.	436	1079	6	1	0	8	0.00369344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.099301621511	0.0015	0.000599042	0.0027	0.0008	0.0069	0	0.0016	0.0036	0.0056	0.0006	0.0003842	10	26028	rs146938838	0.0015	0.0015	0.0016	0.0015	0.0028	0.0015	0.0015	0.0017	0.0017	0.0003	0.0018	3.83e-05	0	0.0007	0.0028	0.0018	0.0016	0.0002	0.0010	0.0010	0.0011	0.0010	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0016	0	0	0.0002	0	0.0017	0.0005	0.0002	0.071	0.35165	T	0.158	0.31629	T	0.728	0.42542	P	0.428	0.45338	B	0.000000	0.84330	D	0.051109	0.997665	0.44080	D	2.095	0.58118	M	-4.09	0.96627	D	-1.6	0.38540	N	0.177	0.24758	0.386	0.88881	D	0.809	0.93554	D	10	0.014924526	0.00313	T	0.099302	0.77085	D	0.449	0.75004	0.397	0.42426	0.9651967404	0.96482	0.27537518976829767	0.27450	2.33326140951	0.96682	0.533275067806	0.43496	T	0.392315	0.75202	T	-0.320985	0.06818	T	-0.258477	0.48977	T	0.0435211627124166	0.04333	T	0.966803	0.87909	D	0.13225895	0.30801	0.10725279	0.25816	0.13225895	0.30801	0.10725279	0.25815	-6.012	0.46381	T	.	.	0.251	0.50035	B	.;.	.;.	2.275995	0.29096	18.01	0.99564237938818934	0.71953	0.10642	0.16091	N	AEFI	0.077529	0.15623	N	-0.114448593655584	0.36763	2.129437	-0.224901829856231	0.30647	1.727342	2.65774279415038E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.596	0.596	0.16678	-0.079000	0.11321	1.708000	0.28176	0.172000	0.17770	0.946000	0.32893	1.000000	0.68203	0.484000	0.28656	0.0:0.6407:0.0:0.3593	2.993	0.05624	212	0.91760	Fumarylacetoacetase-like, C-terminal;Fumarylacetoacetase-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001904	0.000000	0.002755	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	1274.12	34	chr2	97090187	.	C	A	1274.12	.	AC=2;AF=0.1;AN=20;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=39.65;QD=33.53;SOR=2.554	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	9	1	0	0
chr2	97118398	97118398	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon3:c.A367G:p.N123D,ANKRD36:NM_198555:exon3:c.A367G:p.N123D	.	438	1035	38	11	0	60	0.028169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00460178933778	.	0.00139776	2.506e-05	0	0	0.0001	0	3.009e-05	0	0	0.0066851	174	26028	rs2443937	0.0012	0.0058	0.0008	0.0016	0.0122	0.0011	0.0011	0.0115	0.0113	0.0014	0.0006	0.0005	0.0002	0.0028	0.0017	0.0004	0.0012	0.0122	0.0010	0.0037	0.0010	0.0011	0.0019	0.0009	0.0009	0.0012	0.0011	0.0015	0.0011	0.0005	0.0015	0.0004	0.0023	0	0.0007	0.0010	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.027324	0.25774	N	0.265087	0.999997	0.08975	N	-0.975	0.01213	N	0.13	0.60973	T	2.48	0.00239	N	0.187	0.20395	-1.1221	0.02203	T	0.059	0.24649	T	10	0.009579688	0.00216	T	0.004602	0.11377	T	0.074	0.21613	0.501	0.59304	0.163833314356	0.15978	.	.	.	.	0.796690881252	0.81459	T	0.002126	0.01528	T	-0.321649	0.06764	T	-0.699803	0.05836	T	0.000506311159347566	0.00004	T	0.39616	0.10665	T	0.033959754	0.03719	0.043797955	0.05529	0.033959754	0.03719	0.043797955	0.05529	-1.793	0.02488	T	.	.	0.060	0.16756	B	.;.;.;.	.;.;.;.	-0.510383	0.01835	0.146	0.18979839760202219	0.00621	0.00554	0.02533	N	AEFDBI	0.016678	0.00390	N	-1.46263423425929	0.02119	0.09324683	-1.4579066234517	0.02699	0.1246355	1.34041136149198E-5	0.02871	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	-0.384	0.11853	0.915000	0.28260	-3.881000	0.02476	-0.610000	0.04588	0.785000	0.29533	0.000000	0.08366	0.002000	0.04165	0.6035:0.0:0.3965:0.0	4.853	0.12905	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	213.74	39	chr2	97118398	.	A	G	213.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.74;DP=327;ExcessHet=0;FS=0;InbreedingCoeff=0.7814;MLEAC=1;MLEAF=0.05;MQ=36.64;MQRankSum=-0.605;QD=19.43;ReadPosRankSum=-1.393;SOR=1.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1323	9	1	0	0
chr2	97118416	97118416	T	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon3:c.T385G:p.F129V,ANKRD36:NM_198555:exon3:c.T385G:p.F129V	.	444	1060	14	4	0	22	0.0102708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0020250688165	.	.	2.507e-05	0.0001	0	0	0	3.012e-05	0	0	0.0067619	176	26028	rs762049488	0.0009	0.0052	0.0006	0.0012	0.0087	0.0009	0.0008	0.0082	0.0080	0.0004	0.0007	0.0004	0.0003	0.0011	0.0021	0.0004	0.0011	0.0087	0.0005	0.0017	0.0005	0.0004	0.0009	0.0004	0.0003	0.0005	0.0004	0.0003	0	0.0009	0	0.0002	0.0006	0	0.0004	0.0019	0.0005	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000149	0.00484	N	5.678600	1	0.08975	N	0.2	0.09183	N	0.69	0.51714	T	1.1	0.01229	N	0.056	0.16308	-1.0744	0.08472	T	0.066	0.27364	T	10	0.0061421394	0.00138	T	0.002025	0.03668	T	0.032	0.07718	0.383	0.40134	0.209622950755	0.20551	.	.	.	.	0.651759684086	0.60235	T	0.001244	0.00734	T	-0.383172	0.02975	T	-0.788176	0.02215	T	0.000673424601461008	0.00006	T	0.0308969	0.00195	T	0.032773443	0.03365	0.030300733	0.01468	0.032773443	0.03365	0.030300733	0.01468	-1.315	0.01425	T	.	.	0.070	0.47404	B	.;.;.;.	.;.;.;.	-1.593066	0.00243	0.004	0.14072869723754813	0.00298	0.00105	0.00673	N	AEFDBI	0.014968	0.00262	N	-1.42318144191558	0.02436	0.1075725	-1.53803209043221	0.02059	0.09415699	6.09433903701214E-5	0.04171	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.4	-2.79	0.05494	-2.520000	0.01027	-20.000000	0.00162	-0.626000	0.04528	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1929:0.0:0.3105:0.4966	2.578	0.04519	224	0.91330	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002430	0.008065	0.000000	0.000000	0.000000	0.000000	0.011719	0.000000	0.1	169.25	39	chr2	97118416	.	T	G	169.25	.	AC=2;AF=0.1;AN=20;DP=322;ExcessHet=0;FS=0;InbreedingCoeff=0.9913;MLEAC=2;MLEAF=0.1;MQ=36.56;QD=28.21;SOR=3.912	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1323	9	1	0	0
chr2	97124575	97124575	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon5:c.G709A:p.A237T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.00693479316205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs746044379	2.785e-05	2.873e-05	2.678e-05	2.895e-05	0.0005	2.085e-05	1.831e-05	0.0001	7.631e-05	0	0	0	0	0	0.0005	2.965e-05	0	5.051e-05	6.582e-06	6.569e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.005	0.74150	D	0.98	0.59353	D	0.892	0.63276	P	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	-0.8	0.73845	T	-0.69	0.19720	N	0.527	0.60833	-0.7120	0.59854	T	0.340	0.70608	T	9	0.47427323	0.60049	T	0.006935	0.18345	T	0.475	0.76751	0.673	0.81101	0.658879190379	0.65602	.	.	.	.	0.648425459862	0.59763	T	0.079876	0.36232	T	-0.0219678	0.48573	T	-0.141553	0.59983	T	0.279828921114204	0.24164	T	0.570043	0.20293	T	0.08050545	0.18450	0.12857829	0.30932	0.08050545	0.18450	0.12857829	0.30932	-9.09	0.68273	D	.	.	0.722	0.74443	P	.;.;.;.	.;.;.;.	2.434684	0.31330	18.71	0.99131015615331541	0.53249	0.47882	0.28082	N	AEFDI	0.047449	0.07990	N	-0.207580103253809	0.32823	1.855376	-0.396586281654718	0.25098	1.378269	2.2244186585466E-5	0.03498	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.946	0.946	0.18674	1.789000	0.38356	0.402000	0.18011	0.323000	0.19410	0.788000	0.29570	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.213	0.14649	224	0.91330	Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	657.43	33	chr2	97124575	.	G	A	657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.532;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-1.044;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1176	9	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2008.94	160	chr2	97185336	.	GC	G	2008.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.691;DP=1002;ExcessHet=10.3881;FS=1.877;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.13;MQRankSum=-4.821;QD=2.23;ReadPosRankSum=0.714;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,10:103:99:0|1:97185336_GC_G:140,0,3875:97185336	2	0	8	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	2007.98	167	chr2	97185340	.	C	G	2007.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.465;DP=1013;ExcessHet=10.3881;FS=1.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.82;MQRankSum=-4.808;QD=2.2;ReadPosRankSum=0.876;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,10:106:99:0|1:97185336_GC_G:131,0,4001:97185336	2	0	8	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1983.94	169	chr2	97185341	.	A	AG	1983.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.507;DP=1021;ExcessHet=10.3881;FS=0.867;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=46.66;MQRankSum=-4.689;QD=2.15;ReadPosRankSum=1.2;SOR=0.521	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,10:107:99:0|1:97185336_GC_G:128,0,4043:97185336	2	0	8	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1905.94	179	chr2	97185345	.	GTAAT	G	1905.94	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.397;DP=1063;ExcessHet=10.3881;FS=0.865;InbreedingCoeff=-0.6663;MLEAC=8;MLEAF=0.4;MQ=45.93;MQRankSum=-4.495;QD=1.98;ReadPosRankSum=1.87;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,12:115:99:0|1:97185336_GC_G:153,0,4282:97185336	2	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	220.23	35	chr2	97243982	.	A	G	220.23	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.51;DP=686;ExcessHet=0.7463;FS=18.92;InbreedingCoeff=-0.1965;MLEAC=3;MLEAF=0.15;MQ=39.09;MQRankSum=-2.496;QD=0.65;ReadPosRankSum=0.467;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,7:67:99:0|1:97243981_C_T:113,0,2498:97243981	7	0	3	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	400.57	35	chr2	97243989	.	C	T	400.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.099;DP=774;ExcessHet=1.5895;FS=29.789;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=38.65;MQRankSum=-2.483;QD=1.01;ReadPosRankSum=0.724;SOR=1.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,7:65:99:0|1:97243981_C_T:119,0,2414:97243981	6	0	4	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,48:133:99:0|1:97513219_T_C:1760,0,3425:97513219	0	0	10	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,52:141:99:0|1:97513219_T_C:1907,0,3581:97513219	0	0	10	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,67:165:99:0|1:97513244_G_T:2518,0,3867:97513244	0	0	10	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,68:166:99:0|1:97513244_G_T:2560,0,3870:97513244	0	0	10	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,68:166:99:0|1:97513244_G_T:2560,0,3870:97513244	0	0	10	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,73:173:99:0|1:97513268_C_T:2744,0,3979:97513268	0	0	10	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,73:173:99:0|1:97513268_C_T:2744,0,3979:97513268	0	0	10	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,72:173:99:0|1:97513268_C_T:2719,0,4004:97513268	0	0	10	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,71:169:99:0|1:97513268_C_T:2686,0,3846:97513268	0	0	10	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:63,30:93:99:630,0,1497	0	0	10	0
chr2	98396666	98396666	G	A	exonic	CNGA3	.	nonsynonymous SNV	CNGA3:NM_001079878:exon7:c.G1442A:p.R481Q,CNGA3:NM_001298:exon8:c.G1496A:p.R499Q	Achromatopsia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1870529	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.335	0.0406430702601	.	.	2.479e-05	0	0	0.0002	0	1.503e-05	0	0	4.53e-05	7	154602	rs374938560	3.489e-05	3.489e-05	4.356e-05	2.613e-05	0.0001	2.697e-05	2.438e-05	3.348e-05	2.468e-05	2.987e-05	2.236e-05	0	0.0001	0	0	3.687e-05	6.623e-05	0	3.944e-05	3.94e-05	2.57e-05	5.382e-05	0.0002	1.716e-05	1.13e-05	2.263e-05	9.08e-06	0	0	0.0001	0	0.0002	0	0	4.409e-05	0	0	0.981	0.05881	T	0.746	0.10034	T	0.836	0.46303	P	0.122	0.32387	B	0.000025	0.55875	D	0.122332	0.902964	0.36217	D	0.56	0.15190	N	-4.05	0.96496	D	-0.66	0.20576	N	0.091	0.18649	0.498	0.90517	D	0.697	0.89561	D	10	0.10335484	0.18996	T	0.040643	0.59492	D	0.335	0.65718	.	.	0.966733096585	0.96637	0.4697112707076078	0.46890	0.117215527807	0.13211	0.404367923737	0.25676	T	0.143518	0.47967	T	-0.181609	0.23497	T	-0.234217	0.51362	T	0.0465092805393572	0.04877	T	0.940606	0.77652	D	0.13452706	0.31253	0.100444615	0.24015	0.13452706	0.31253	0.100444615	0.24015	-6.245	0.48516	T	0.12113220770668474	0.11463	0.071	0.04119	B	.;.;.;.	.;.;.;.	2.654208	0.34565	19.66	0.97832449874884198	0.36272	0.34578	0.25101	N	AEFDBI	0.238908	0.36095	N	-0.280516092849306	0.29901	1.662339	-0.170264293416072	0.32636	1.858767	0.9250300533526	0.26800	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.92	4.92	0.64147	1.345000	0.33558	5.965000	0.51894	0.671000	0.69459	0.965000	0.33920	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	17.113	0.86557	279	0.89001	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.;Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1997.43	34	chr2	98396666	.	G	A	1997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=471;ExcessHet=0;FS=0.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.443;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	9	0	1	0
chr2	98822475	98822475	G	A	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.C1798T:p.L600F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.400872834605	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374661973	5.301e-06	9.577e-06	1.492e-06	9.225e-06	6.653e-06	2.2e-06	1.42e-06	2.77e-06	1.78e-06	0	0	0	0	0	0	6.653e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.093	0.39799	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	1.905	0.50856	L	-0.37	0.68892	T	-2.33	0.51646	N	0.282	0.31925	-0.6681	0.61914	T	0.395	0.74793	T	9	0.34634548	0.51591	T	0.400873	0.93394	D	0.148	0.39182	0.323	0.30387	0.110078149338	0.10416	0.22311606946693674	0.22226	.	.	0.779143095016	0.78798	T	0.096086	0.39753	T	-0.102936	0.35937	T	-0.385637	0.35063	T	0.678432280809179	0.39717	D	0.527047	0.17380	T	0.17929317	0.38993	0.22007175	0.46769	0.17929317	0.38993	0.22007175	0.46768	-5.478	0.41662	T	.	.	0.109	0.20819	B	.	.	3.860151	0.55978	23.7	0.96977762913513665	0.31847	0.22598	0.21800	N	AEFDBHCI	0.045667	0.07495	N	0.00674706602931592	0.42161	2.535173	-0.157641631581794	0.33115	1.890945	0.999999995848935	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	4.67	3.78	0.42629	0.670000	0.24838	5.441000	0.48620	0.560000	0.28382	0.979000	0.35152	1.000000	0.68203	0.032000	0.13371	0.1052:0.0:0.8948:0.0	9.357	0.37336	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	721.43	34	chr2	98822475	.	G	A	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=348;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-1.53;SOR=0.906	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,838	9	0	1	0
chr2	99371668	99371668	A	G	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon9:c.A1490G:p.D497G	.	.	.	.	.	.	.	.	.	.	.	3238720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0122255616522	0.0002	0.000199681	0.0001	0	0	0	0	0.0002	0.0012	6.351e-05	0.00011	17	154602	rs202035862	8.697e-05	8.687e-05	7.358e-05	0.0001	0.0010	7.428e-05	6.976e-05	0.0005	0.0003	8.971e-05	6.718e-05	0	0	1.876e-05	0.0010	9.269e-05	0.0002	1.165e-05	4.596e-05	4.593e-05	1.285e-05	8.056e-05	7.352e-05	2.108e-05	1.526e-05	2.847e-05	1.859e-05	2.405e-05	0	6.536e-05	0	0	0	0	7.352e-05	0	0	0.058	0.37750	T	0.194	0.51112	T	0.023	0.18885	B	0.014	0.16862	B	.	.	.	.	0.555132	0.31302	N	0	0.06538	N	0.83	0.47815	T	-2.04	0.46842	N	0.209	0.25377	-1.0006	0.29746	T	0.072	0.29227	T	8	0.05199924	0.05166	T	0.012226	0.30616	T	0.039	0.10176	.	.	0.36254010156	0.35860	0.257628774389225	0.25676	0.203379090619	0.22757	0.360445380211	0.19450	T	0.32829	0.69872	T	-0.383173	0.02975	T	-0.498035	0.22551	T	0.104613916732226	0.12856	T	0.869813	0.57430	D	0.103592664	0.24486	0.13529032	0.32396	0.103592664	0.24486	0.13529032	0.32395	-4.3	0.28177	T	.	.	0.075	0.09288	B	.;.	.;.	3.901005	0.56829	23.8	0.9776910200697525	0.35857	0.98571	0.84224	D	AEFBI	0.705838	0.66109	D	-0.229107984969096	0.31945	1.796372	-0.0247279218276201	0.38601	2.276583	0.440847150367316	0.20452	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	4.45	0.53365	4.777000	0.62054	7.903000	0.73657	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8531:0.0:0.0:0.1469	10.326	0.42978	490	0.76723	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	798.43	77	chr2	99371668	.	A	G	798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=394;ExcessHet=0;FS=4.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.292;SOR=1.219	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	9	0	1	0
chr2	99390610	99390610	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2653A:p.G885R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.767	0.233365388753	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239306947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.51	0.92865	H	-1.32	0.79761	T	-7.43	0.94843	D	0.888	0.88687	0.556	0.91309	D	0.713	0.90144	D	8	0.9708108	0.96676	D	0.233365	0.88363	D	0.767	0.92129	0.916	0.98422	0.690808643571	0.68815	0.7173418884875061	0.71677	2.22149279626	0.95840	0.881300926208	0.94135	D	0.617984	0.87985	D	0.218846	0.75665	D	0.0765813	0.75349	D	0.991426477995318	0.81718	D	0.993201	0.97808	D	0.5181491	0.68153	0.6166811	0.77684	0.5181491	0.68154	0.6166811	0.77685	-12.442	0.86937	D	.	.	0.983	0.91793	P	.;.	.;.	5.399648	0.90430	31	0.99937057465776302	0.99661	0.98583	0.84360	D	AEFBI	0.920251	0.89195	D	0.907512754117322	0.92122	11.24571	0.86181587170268	0.93687	12.21075	0.999999999984001	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.994000	0.87951	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.0:0.9262:0.0	13.083	0.58534	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	219.16	95	chr2	99390610	.	G	A	219.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.223;DP=545;ExcessHet=0.2348;FS=118.475;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.26;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1310:.	9	0	1	0
chr2	99390610	99390610	G	C	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2653C:p.G885R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.763	0.205255554131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.51	0.92865	H	-1.32	0.79761	T	-7.43	0.94843	D	0.888	0.88687	0.556	0.91309	D	0.713	0.90144	D	8	0.97005266	0.96579	D	0.205256	0.86975	D	0.763	0.91962	0.916	0.98422	0.689092108259	0.68642	0.717341916029575	0.71677	2.22149279626	0.95840	0.881300926208	0.94135	D	0.617984	0.87985	D	0.218853	0.75667	D	0.0765911	0.75349	D	0.99372377728329	0.84643	D	0.993201	0.97808	D	0.5181491	0.68153	0.6166811	0.77684	0.5181491	0.68154	0.6166811	0.77685	-12.442	0.86937	D	.	.	0.983	0.91793	P	.;.	.;.	5.305674	0.89070	29.8	0.99935592256078964	0.99579	0.98972	0.89372	D	AEFBI	0.922611	0.89785	D	0.907512754117322	0.92122	11.24571	0.86181587170268	0.93687	12.21075	0.999999999984001	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.994000	0.87951	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.0:0.9262:0.0	13.083	0.58534	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	219.16	95	chr2	99390610	.	G	C	219.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.223;DP=545;ExcessHet=0.2348;FS=118.475;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.26;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1310:.	9	0	1	0
chr2	99390613	99390613	G	A	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656A:p.D886N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694	0.142793453651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.45530	T	0.793	0.44725	P	0.56	0.49558	P	.	.	.	.	1	0.81001	D	3.315	0.90654	M	-0.73	0.73100	T	-3.97	0.73684	D	0.63	0.64393	0.213	0.86132	D	0.544	0.83208	D	8	0.9126357	0.90628	D	0.142793	0.82515	D	0.694	0.88913	0.864	0.95995	0.614425270908	0.61131	0.5763173653873808	0.57560	1.7600581582	0.91115	0.812806487083	0.83922	D	0.653892	0.89531	D	0.0869895	0.62849	D	-0.112822	0.62385	T	0.973848506784709	0.70263	D	0.962504	0.86259	D	0.34774193	0.56891	0.34795704	0.60442	0.34774193	0.56891	0.34795704	0.60441	-8.071	0.61553	D	.	.	0.280	0.51332	B	.;.	.;.	5.402828	0.90465	31	0.99929077074018369	0.99279	0.99272	0.93765	D	AEFBI	0.905520	0.85714	D	0.797561309752087	0.85951	8.732649	0.800243538308844	0.89809	10.13081	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	544.3	97	chr2	99390613	.	G	A	544.3	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.313;DP=859;ExcessHet=1.5895;FS=106.986;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.22;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1310:.	6	0	3	1
chr2	99390613	99390613	G	C	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656C:p.D886H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.106473041921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.435e-06	0.0001	1.367e-06	5.524e-06	2.712e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.712e-06	3.327e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	3.52	0.92970	H	-0.75	0.73311	T	-5.7	0.87380	D	0.776	0.77319	0.562	0.91400	D	0.695	0.89488	D	8	0.95167446	0.94507	D	0.106473	0.78210	D	0.833	0.94728	0.879	0.96784	0.736229469925	0.73387	0.7406881022366005	0.74013	2.20945217804	0.95737	0.828492999077	0.86332	D	0.645905	0.89196	D	0.318573	0.84369	D	0.219832	0.84166	D	0.987848723263907	0.78266	D	0.964404	0.87416	D	0.7238549	0.79376	0.82234377	0.89689	0.7238549	0.79378	0.82234377	0.89690	-12.543	0.87395	D	.	.	0.842	0.79349	P	.;.	.;.	5.505696	0.91630	32	0.9968045988301234	0.79241	0.99418	0.95776	D	AEFBI	0.905087	0.85617	D	0.985501792892842	0.95282	13.47336	0.932565831737932	0.96841	15.21986	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	544.3	97	chr2	99390613	.	G	C	544.3	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.313;DP=859;ExcessHet=1.5895;FS=106.986;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=1.22;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1310:.	8	0	1	1
chr2	100321601	100321601	G	A	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon1:c.C493T:p.R165C	.	429	1085	8	0	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	.	.	0.00199681	0.0039	0.0004	0.0004	0	0	0.0003	0.0029	0.0184	0.0015847	245	154602	rs377306378	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0119	3.552e-05	0.0002	0	3.168e-05	0	0.0051	0.0002	0.0010	0.0128	0.0006	0.0006	0.0003	0.0008	0.0135	0.0005	0.0004	0.0109	0.0099	4.822e-05	0	0.0005	0	0	0	0	0.0001	0.0005	0.0135	0.016	0.51853	D	0.105	0.38016	T	0.944	0.53183	P	0.16	0.34752	B	0.002024	0.37411	U	0.097543	0.998676	0.45259	D	2.07	0.56829	M	-1.96	0.85091	D	-3.33	0.66206	D	0.16	0.16725	-0.3573	0.73342	T	0.398	0.75023	T	10	0.0068572164	0.00156	T	.	.	.	0.388	0.70440	.	.	0.533855592455	0.53035	0.40143752523714205	0.40058	1.08347559902	0.77202	0.908861637115	0.97361	D	0.105523	0.41607	T	-0.28242	0.10413	T	-0.166777	0.57738	T	0.0885196704075557	0.11041	T	0.717928	0.33070	T	0.2549126	0.48522	0.2176143	0.46433	0.2549126	0.48522	0.2176143	0.46432	-9.997	0.73894	D	.	.	0.394	0.59211	A	.	.	3.542654	0.49765	22.8	0.99456233803651373	0.65530	0.29579	0.23859	N	AEFDBHCIJ	0.207941	0.33407	N	-0.312400794245335	0.28676	1.58369	-0.410695354937189	0.24684	1.353051	0.999999999999386	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.55	2.66	0.30672	0.682000	0.25015	3.596000	0.39206	0.520000	0.23804	0.000000	0.06391	0.998000	0.33993	0.266000	0.23669	0.1096:0.0:0.8904:0.0	9.662	0.39127	616	0.66398	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002556	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.015267	0.05	820.43	34	chr2	100321601	.	G	A	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.101;DP=373;ExcessHet=0;FS=2.039;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=2.27;SOR=0.42	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,978	9	0	1	0
chr2	100993492	100993492	C	A	exonic	NPAS2	.	nonsynonymous SNV	NPAS2:NM_002518:exon20:c.C2257A:p.Q753K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0504022510586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.38633	T	0.021	0.58089	D	0.293	0.32367	B	0.073	0.28123	B	0.076082	0.21183	U	0.218676	0.999879	0.50225	D	1.735	0.44892	L	3.38	0.05778	T	-1.77	0.41809	N	0.62	0.63544	-0.9108	0.46756	T	0.164	0.50061	T	10	0.59245646	0.66456	D	0.050402	0.64228	D	0.119	0.33137	.	.	0.278043722374	0.27408	0.409203025342036	0.40836	0.578734372213	0.53773	0.496260881424	0.38307	T	0.230623	0.59674	T	-0.0990368	0.36584	T	-0.380036	0.35718	T	0.513148903846741	0.33113	D	0.758124	0.38180	T	0.18506126	0.39851	0.13561462	0.32465	0.18506126	0.39851	0.13561462	0.32464	-6.893	0.53247	T	.	.	0.110	0.21239	B	.	.	3.104722	0.41856	21.4	0.97806254516202795	0.36097	0.96144	0.67734	D	AEFDBI	0.611591	0.59998	D	0.293889915952202	0.55839	3.747958	0.328847814594958	0.57239	3.88918	0.999999899600834	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.919000	0.63082	3.934000	0.40555	0.333000	0.19617	0.998000	0.41325	0.999000	0.35428	0.142000	0.20019	0.0:1.0:0.0:0.0	17.617	0.87973	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	463.43	38	chr2	100993492	.	C	A	463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.146;DP=379;ExcessHet=0;FS=1.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.178;SOR=1.14	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1208	9	0	1	0
chr2	101402546	101402546	G	T	exonic	RFX8	.	nonsynonymous SNV	RFX8:NM_001367510:exon10:c.C622A:p.P208T,RFX8:NM_001145664:exon11:c.C1135A:p.P379T,RFX8:NM_001367508:exon12:c.C622A:p.P208T,RFX8:NM_001367509:exon13:c.C622A:p.P208T	.	229	1288	4	1	0	6	0.00232378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	0.00419329	0.0073	0	0	0	0	0.0001	0.0086	0.0193	0.0012484	193	154602	rs371118069	0.0012	0.0011	0.0006	0.0017	0.0194	0.0011	0.0011	0.0186	0.0183	3.165e-05	0.0002	0	5.596e-05	0	0.0005	5.561e-06	0.0011	0.0194	0.0008	0.0008	0.0004	0.0013	0.0228	0.0007	0.0007	0.0193	0.0180	2.405e-05	0	0.0008	0	0	0	0	0	0	0.0228	0.016	0.51853	D	0.095	0.39492	T	0.137	0.27402	B	0.109	0.31370	B	0.158828	0.17728	N	0.518652	1	0.08975	N	.	.	.	0.67	0.52187	T	-1.36	0.33798	N	0.043	0.01577	-0.7560	0.57620	T	0.313	0.68273	T	10	0.0025900602	0.00039	T	.	.	.	0.088	0.25558	.	.	0.0138822411134	0.00435	0.12071475359501806	0.11998	4.55836737235E-4	0.00048	0.283619046211	0.08002	T	.	.	.	-0.626073	0.00101	T	-0.65715	0.08460	T	0.0175715956425276	0.00491	T	0.424758	0.11367	T	.	.	.	.	.	.	.	.	-3.594	0.17770	T	.	.	0.070	0.03443	B	.;.;.	.;.;.	0.964213	0.13410	9.916	0.85097568947857349	0.15684	0.09885	0.15538	N	AEFDBCI	0.066964	0.13140	N	-1.20918879511262	0.04864	0.2204965	-1.19897703723134	0.05927	0.2838391	0.888688871165162	0.25795	0.549168	0.22868	0	0.563428	0.19063	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.23	2.97	0.33479	0.276000	0.18478	2.861000	0.35203	-0.212000	0.08331	0.000000	0.06391	0.397000	0.24692	0.006000	0.07323	0.2372:0.0:0.7628:0.0	9.429	0.37760	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1985.43	39	chr2	101402546	.	G	T	1985.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.289;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.184;SOR=0.688	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr2	102225970	102225970	T	C	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon6:c.T638C:p.I213T,IL1RL2:NM_001351447:exon7:c.T710C:p.I237T,IL1RL2:NM_001351449:exon8:c.T611C:p.I204T,IL1RL2:NM_001351450:exon8:c.T611C:p.I204T,IL1RL2:NM_001351446:exon9:c.T1064C:p.I355T,IL1RL2:NM_003854:exon9:c.T1064C:p.I355T	.	434	1059	27	2	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00538810107876	0.0011	0.00199681	0.0028	0.0003	0.0009	0.0002	0.0023	0.0026	0.0022	0.0086	0.002652	410	154602	rs138105991	0.0024	0.0024	0.0022	0.0027	0.0095	0.0023	0.0023	0.0090	0.0088	0.0005	0.0008	0.0045	2.538e-05	0.0020	0.0095	0.0019	0.0041	0.0095	0.0019	0.0019	0.0016	0.0021	0.0095	0.0017	0.0016	0.0073	0.0066	0.0002	0.0493	0.0017	0.0055	0	0.0008	0.0034	0.0019	0.0014	0.0095	0.043	0.41364	D	0.11	0.37310	T	0.042	0.21471	B	0.037	0.23121	B	0.446521	0.12561	N	0.770486	0.999947	0.19238	N	2.105	0.58435	M	3.96	0.04014	T	-2.84	0.59873	D	0.073	0.16447	-1.0109	0.26635	T	0.012	0.04653	T	10	0.0068877935	0.00156	T	0.005388	0.13832	T	0.070	0.20419	.	.	0.119812018005	0.11559	0.44560835238578905	0.44478	0.191107692456	0.21433	0.366368353367	0.20309	T	0.49669	0.81888	T	-0.655671	0.00067	T	-0.708064	0.05396	T	0.00482568533609228	0.00052	T	0.639636	0.25265	T	0.13073404	0.30496	0.12908597	0.31044	0.13073404	0.30495	0.12908597	0.31044	-7.57	0.63471	D	.	.	0.148	0.32661	B	.;.	.;.	1.087230	0.14705	11.26	0.87444102512065358	0.17231	0.20531	0.21075	N	AEFBI	0.052819	0.09463	N	-0.592351730009413	0.19175	1.00154	-0.604177513899027	0.19385	1.039832	0.99971037908045	0.42101	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	1.74	0.23636	1.492000	0.35203	1.787000	0.28766	0.665000	0.62972	0.422000	0.26346	0.709000	0.26280	0.008000	0.08271	0.0:0.2922:0.0:0.7078	9.612	0.38835	817	0.41665	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.011364	0.05	1092.43	35	chr2	102225970	.	T	C	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.96;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.506;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	9	0	1	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T,IL1RL2:NM_001351447:exon9:c.G1057A:p.A353T,IL1RL2:NM_001351449:exon10:c.G958A:p.A320T,IL1RL2:NM_001351450:exon10:c.G958A:p.A320T,IL1RL2:NM_001351446:exon11:c.G1411A:p.A471T,IL1RL2:NM_003854:exon11:c.G1411A:p.A471T	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024673	0.010101	0.021739	0.049708	0.000000	0.025862	0.012195	0.049242	0.1	3886.14	36	chr2	102235010	.	G	A	3886.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.24;DP=586;ExcessHet=0.2348;FS=2.555;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=1.35;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	8	0	2	0
chr2	102424247	102424247	G	C	exonic	IL18RAP	.	nonsynonymous SNV	IL18RAP:NM_003853:exon5:c.G412C:p.A138P	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00582359363422	7.7e-05	0.000199681	0.0005	0	0	0.0001	0	0.0002	0.0022	0.0025	0.000401	62	154602	rs371252714	0.0003	0.0003	0.0002	0.0003	0.0029	0.0003	0.0002	0.0019	0.0017	2.988e-05	6.71e-05	3.827e-05	2.519e-05	0.0003	0.0029	0.0001	0.0005	0.0020	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0007	0	0	0.0005	0.0034	0.0002	0.0005	0.0017	0.089	0.32141	T	0.024	0.56640	D	0.991	0.64070	D	0.497	0.47562	P	0.066769	0.21787	N	0.469184	0.899643	0.81001	D	1.935	0.51832	L	1.94	0.22678	T	-1.23	0.31170	N	0.217	0.24260	-1.1248	0.02048	T	0.051	0.21611	T	10	0.018843085	0.00414	T	0.005824	0.15131	T	0.149	0.39377	.	.	0.358340041657	0.35441	0.7494906714048574	0.74896	0.234766016754	0.26012	0.330877006054	0.15066	T	0.174333	0.52352	T	-0.318482	0.07023	T	-0.236112	0.51177	T	0.0424534895874679	0.04137	T	0.740726	0.35986	T	0.55958563	0.70487	0.32661998	0.58568	0.55958563	0.70488	0.32661998	0.58567	-2.807	0.08248	T	.	.	0.118	0.24020	B	.	.	2.011024	0.25550	16.80	0.9964930214295068	0.77192	0.24945	0.22549	N	AEFBI	0.284448	0.39731	N	0.0651791037750651	0.44843	2.751108	0.0222899486912045	0.40753	2.437121	0.999940585443771	0.47345	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	3.36	0.37579	0.538000	0.22869	0.642000	0.20329	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.581000	0.30918	0.1951:0.0:0.8049:0.0	7.043	0.24210	521	0.74284	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005181	0.000000	0.000000	0.000000	0.000000	0.000000	0.024390	0.007576	0.05	830.43	39	chr2	102424247	.	G	C	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.485;DP=481;ExcessHet=0;FS=1.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.872;SOR=0.585	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1221	9	0	1	0
chr2	102532531	102532531	C	T	exonic	SLC9A4	.	nonsynonymous SNV	SLC9A4:NM_001011552:exon12:c.C2240T:p.P747L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0263800486297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.097	0.39190	T	0.001	0.07471	B	0.002	0.06944	B	0.046092	0.23472	N	0.423800	0.999737	0.20548	N	2.095	0.58118	M	0.63	0.53088	T	-1.8	0.42384	N	0.141	0.14054	-1.0107	0.26698	T	0.098	0.36548	T	10	0.09931418	0.18014	T	0.02638	0.49291	D	0.094	0.27141	0.415	0.45380	0.32980341726	0.32591	0.3452868620778293	0.34442	0.278091656292	0.30296	0.387535512447	0.23322	T	0.10719	0.41917	T	-0.129993	0.31497	T	-0.424502	0.30562	T	0.807177841663361	0.46849	D	0.757724	0.38135	T	0.085040756	0.19710	0.11430353	0.27591	0.085040756	0.19710	0.11430353	0.27590	-4.751	0.34015	T	.	.	0.160	0.35414	B	.	.	2.813865	0.37048	20.4	0.98758869288410922	0.45785	0.13144	0.17688	N	AEFBI	0.052691	0.09428	N	-0.434979767399024	0.24253	1.308204	-0.373223135716798	0.25797	1.420972	0.00506790006067929	0.10815	0.603402	0.35316	0	0.59043	0.45803	0	0.573888	0.23631	0	0.663205	0.64265	0	.	.	5.31	5.31	0.75063	1.749000	0.37946	3.981000	0.40905	0.599000	0.40250	0.301000	0.25333	1.000000	0.68203	0.377000	0.26268	0.0:0.9098:0.0:0.0902	10.386	0.43321	573	0.70213	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1492.43	111	chr2	102532531	.	C	T	1492.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=414;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.13;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1241	9	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	130.48	34	chr2	106413119	.	A	G	130.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.55;DP=388;ExcessHet=0.7463;FS=27.782;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=49.23;MQRankSum=-3.883;QD=0.98;ReadPosRankSum=-1.757;SOR=4.531	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	7	0	3	0
chr2	106423154	106423154	A	T	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.T4813A:p.S1605T	.	190	1312	20	0	0	20	0.0075643	.	.	.	3905916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00589258222691	.	.	0.0009	0	0.0018	0	0	0.0004	0	0.0044	0.0001537	4	26028	rs749360598	0.0003	0.0003	0.0002	0.0003	0.0075	0.0003	0.0003	0.0054	0.0046	3.249e-05	0.0005	4.061e-05	0	0	0.0075	0.0002	0.0007	0.0015	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0006	0.0005	4.817e-05	0	0.0010	0.0003	0	0	0.0034	0.0003	0.0005	0.0008	0.067	0.35918	T	0.493	0.11443	T	0.255	0.31319	B	0.071	0.27960	B	.	.	.	.	1	0.08975	N	2.19	0.61577	M	1.06	0.39781	T	-0.79	0.21860	N	0.072	0.06854	-1.0361	0.18513	T	0.072	0.29259	T	9	0.005458027	0.00120	T	0.005893	0.15340	T	0.020	0.03691	0.192	0.10304	0.0401082797425	0.02173	0.016020422774613914	0.01558	.	.	0.35924872756	0.19275	T	0.005	0.04008	T	-0.614732	0.00119	T	-0.662581	0.08092	T	0.0191502718973929	0.00622	T	0.715028	0.32735	T	0.07294533	0.16266	0.07093204	0.15130	0.07294533	0.16265	0.07093204	0.15130	-3.988	0.23624	T	.	.	0.087	0.11027	B	.;.	.;.	1.866847	0.23715	16.12	0.74456182879405952	0.10702	0.06372	0.12373	N	AEFI	0.129531	0.24775	N	-0.910128125425237	0.10604	0.5075387	-1.02662557778789	0.09201	0.456475	0.374379395006213	0.19900	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	-0.0577	0.13131	1.506000	0.35354	3.607000	0.39241	0.347000	0.19874	0.032000	0.20554	0.985000	0.30750	0.524000	0.29567	0.4333:0.0:0.5667:0.0	5.220	0.14685	908	0.22609	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006748	0.010638	0.004213	0.006250	0.000000	0.018182	0.012931	0.000000	0.05	263.43	34	chr2	106423154	.	A	T	263.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.572;DP=364;ExcessHet=0;FS=8.84;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=25.89;MQRankSum=1.14;QD=6.75;ReadPosRankSum=-1.431;SOR=0.093	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1453	9	0	1	0
chr2	106423468	106423468	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.C4499T:p.T1500I	.	200	1309	13	0	0	13	0.00494109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0119896907415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273465468	4.199e-05	0.0002	2.786e-05	5.624e-05	0.0006	3.289e-05	2.946e-05	0.0004	0.0004	0	0.0004	0	0	0	0	0	0	0.0006	0.0003	0.0014	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0006	0	0	0	0	0.0002	0.0011	0.0005	0.047	0.40319	D	0.02	0.58613	D	0.736	0.42845	P	0.169	0.35248	B	.	.	.	.	0.990442	0.24170	N	2.65	0.77586	M	0.79	0.49068	T	-3.72	0.70793	D	0.384	0.42541	-0.9758	0.35948	T	0.122	0.42357	T	9	0.27889556	0.45461	T	0.01199	0.30154	T	0.205	0.49236	0.255	0.19533	0.154104182512	0.14974	0.02645934888400776	0.02595	.	.	0.887564063072	0.94954	D	0.07577	0.35257	T	-0.202734	0.20411	T	-0.52899	0.19387	T	0.90847259759903	0.56307	D	0.720928	0.33404	T	0.28036207	0.51083	0.24469802	0.49942	0.28036207	0.51083	0.24469802	0.49941	-3.259	0.13214	T	.	.	0.913	0.83681	P	.;.	.;.	4.146309	0.62163	24.4	0.99662394313883751	0.78011	0.97234	0.73484	D	AEFI	0.591115	0.58734	D	0.0544002248301934	0.44345	2.710265	0.00862253652414415	0.40113	2.388896	5.45496462360253E-5	0.04171	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.458000	0.79818	11.915000	0.99681	0.315000	0.19243	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	10.412	0.43482	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	78.53	77	chr2	106423468	.	G	A	78.53	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.896;DP=401;ExcessHet=0.2348;FS=22.465;InbreedingCoeff=-0.1258;MLEAC=2;MLEAF=0.1;MQ=28.6;MQRankSum=0.604;QD=0.9;ReadPosRankSum=-2.571;SOR=4.187	GT:AD:DP:GQ:PL	0/1:19,5:24:73:73,0,549	8	0	2	0
chr2	106425126	106425126	T	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.A2841C:p.L947F	.	113	1395	14	0	0	14	0.00499287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0020587420718	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1476016006	0.0005	0.0005	0.0005	0.0006	0.0046	0.0005	0.0005	0.0030	0.0025	0.0020	0.0011	0.0091	0.0005	9.36e-05	0.0046	0.0002	0.0014	0.0005	0.0019	0.0024	0.0019	0.0020	0.0025	0.0018	0.0017	0.0021	0.0020	0.0025	0.0066	0.0022	0.0203	0.0004	0	0.0308	0.0009	0.0033	0.0010	0.574	0.06106	T	0.78	0.04330	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	-1.01	0.01154	N	0.99	0.41750	T	-0.98	0.25986	N	0.03	0.00942	-1.0068	0.27912	T	0.031	0.13330	T	9	0.005949378	0.00133	T	0.002059	0.03775	T	0.030	0.07022	0.216	0.13643	0.0138822411134	0.00435	0.018732201110094104	0.01827	.	.	0.342962920666	0.16881	T	0.001418	0.00874	T	-0.354284	0.04464	T	-0.746681	0.03617	T	0.0213250157278407	0.00834	T	0.0176316	0.00098	T	0.034799747	0.03973	0.05283961	0.08786	0.034799747	0.03973	0.05283961	0.08785	-4.196	0.26694	T	.	.	0.050	0.00681	B	.;.	.;.	-0.178293	0.03203	0.531	0.095329349896583163	0.00099	0.01478	0.04921	N	AEFI	0.048129	0.08182	N	-1.51119489834506	0.01775	0.07778743	-1.43651834146274	0.02894	0.1340043	6.37762098460014E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.35	1.35	0.21078	0.207000	0.17194	0.674000	0.20619	-0.675000	0.04277	0.001000	0.13787	0.023000	0.20922	0.056000	0.15673	0.3626:0.0:0.3923:0.2451	2.125	0.03510	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	431.43	40	chr2	106425126	.	T	G	431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.39;DP=538;ExcessHet=0;FS=7.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.27;MQRankSum=-9.228;QD=2.52;ReadPosRankSum=0.552;SOR=0.647	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr2	106436730	106436730	C	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon10:c.G1401T:p.Q467H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0265775767669	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1446210458	3.016e-05	4.585e-05	2.366e-05	3.676e-05	0.0004	2.272e-05	2.019e-05	0.0003	0.0002	3.151e-05	2.442e-05	0	5.394e-05	0	0.0002	7.313e-06	0	0.0004	3.714e-05	3.969e-05	4.256e-05	3.118e-05	6.337e-05	1.386e-05	8.89e-06	2.078e-05	1.296e-05	2.761e-05	0	0	0	0	0	0	6.337e-05	0	0	0.551	0.06564	T	0.15	0.32783	T	0.989	0.62824	D	0.79	0.57710	P	.	.	.	.	0.846036	0.28564	N	2.14	0.59869	M	-1.7	0.83072	D	-2.01	0.46337	N	0.313	0.35301	-0.2990	0.75012	T	0.537	0.82897	D	9	0.18078062	0.33279	T	0.026578	0.49475	D	0.303	0.62400	0.171	0.07655	0.373537453441	0.36961	0.065556183300511	0.06494	.	.	0.763197422028	0.76406	T	0.007325	0.06742	T	0.00586486	0.52460	T	-0.229352	0.51834	T	0.167602688074112	0.18416	T	0.762324	0.38756	T	0.06965248	0.15277	0.091925494	0.21638	0.06965248	0.15277	0.091925494	0.21637	-4.466	0.30441	T	.	.	0.556	0.68900	A	.;.	.;.	3.276614	0.44877	22.0	0.93014183188319655	0.22609	0.81349	0.40771	D	AEFI	0.343041	0.43899	N	0.172109784434987	0.49862	3.182083	0.0681964511308243	0.42960	2.607819	9.26350654834107E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.52	1.61	0.22752	1.687000	0.37298	1.771000	0.28634	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.8418:0.0:0.1582	6.949	0.23712	904	0.23766	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	396.43	33	chr2	106436730	.	C	A	396.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.19;DP=256;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=25.81;MQRankSum=-4.212;QD=10.16;ReadPosRankSum=-0.38;SOR=1.179	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,380	9	0	1	0
chr2	106468221	106468221	C	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon1:c.G68C:p.R23P	.	5	1502	15	0	0	15	0.00496853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	0.0009	0.0167732	0.0148	0.0005	0.0012	0.0337	0	0.0005	0.0090	0.0759	0.0085898	1328	154602	rs114641853	0.0048	0.0049	0.0033	0.0064	0.0591	0.0047	0.0047	0.0577	0.0571	0.0002	0.0004	0	0.0299	0	0.0015	0.0005	0.0047	0.0591	0.0030	0.0030	0.0019	0.0041	0.0630	0.0027	0.0027	0.0571	0.0549	0.0002	0	0.0003	0	0.0191	0	0.0034	0.0004	0.0024	0.0630	0.037	0.43085	D	0.058	0.46406	T	0.989	0.62824	D	0.859	0.61184	P	.	.	.	.	0.998387	0.22188	N	2.125	0.59049	M	1.0	0.41392	T	-3.28	0.65627	D	0.515	0.54584	-1.0598	0.11805	T	0.079	0.31314	T	9	0.0034672916	0.00061	T	.	.	.	0.084	0.24469	.	.	0.159798565429	0.15598	0.0477392602249862	0.04716	.	.	0.801177322865	0.82142	T	0.043613	0.26557	T	-0.458615	0.01003	T	-0.387523	0.34843	T	0.0518186714386404	0.05817	T	0.676832	0.28555	T	0.35388973	0.57368	0.45053053	0.68024	0.35388973	0.57368	0.45053053	0.68025	-3.311	0.13879	T	.	.	0.199	0.50898	B	.;.	.;.	2.480057	0.31981	18.90	0.58543926219636166	0.06017	0.19323	0.20616	N	AEFDI	0.117440	0.23006	N	-0.227247272579008	0.32020	1.801393	-0.442561024818947	0.23760	1.29745	3.42504440729709E-5	0.03775	0.615465	0.37627	0	0.550933	0.16991	0	0.489635	0.07774	0	0.655142	0.61905	0	.	.	1.8	1.8	0.24069	1.807000	0.38540	7.136000	0.57639	0.265000	0.18437	0.947000	0.32937	1.000000	0.68203	0.050000	0.15192	0.0:1.0:0.0:0.0	7.025	0.24113	864	0.32732	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007634	0.000000	0.000000	0.008333	0.000000	0.000000	0.000000	0.046512	0.05	1264.43	124	chr2	106468221	.	C	G	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.583;DP=473;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0.954;QD=10.2;ReadPosRankSum=1.15;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	9	0	1	0
chr2	106490937	106490937	T	C	exonic	CD8B2	.	nonsynonymous SNV	CD8B2:NM_001349727:exon2:c.T107C:p.M36T,CD8B2:NM_001368307:exon2:c.T107C:p.M36T	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0001164	18	154602	rs533493720	0.0015	0.0015	0.0014	0.0015	0.0043	0.0014	0.0014	0.0030	0.0026	0.0011	0.0013	0.0002	2.519e-05	1.873e-05	0.0043	0.0015	0.0013	0.0025	0.0010	0.0010	0.0011	0.0010	0.0017	0.0009	0.0009	0.0012	0.0011	0.0008	0	0.0008	0.0003	0	0	0.0034	0.0014	0.0028	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011199117	0.00246	T	.	.	.	.	.	.	.	.	.	0.099388158447209	0.09869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460054	0.13307	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.;.	.;.	-3.164717	0.00007	0.001	0.60973766807697649	0.06594	0.00135	0.00831	N	AEFGI	.	.	.	.	.	.	.	.	.	3.1793448261721E-5	0.03775	0.080785	0.02172	0	0.085267	0.02369	0	0.121075	0.03231	0	0.050693	0.00103	0	0.0579845	0.13864	3.44	-3.97	0.03821	-7.065000	0.00057	-14.449000	0.00403	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1754:0.5598:0.0:0.2648	4.137	0.09642	843	0.36859	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	921.43	37	chr2	106490937	.	T	C	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=398;ExcessHet=0;FS=6.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-0.242;QD=10.71;ReadPosRankSum=0.654;SOR=1.377	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1022	9	0	1	0
chr2	107862983	107862983	A	G	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.A2420G:p.D807G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0127542855378	.	0.000599042	0.0025	0.0003	0.0004	0	0.0020	0.0039	0.0011	0.0009	0.0003842	10	26028	rs199738341	0.0023	0.0024	0.0023	0.0022	0.0026	0.0022	0.0022	0.0025	0.0025	0.0003	0.0003	0.0044	0	0.0020	0	0.0026	0.0018	0.0009	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0014	0.0025	0.0024	0.0004	0	0.0002	0.0037	0	0.0016	0	0.0029	0.0011	0.0005	0.011	0.55530	D	0.101	0.38596	T	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.773018	0.34174	D	2.485	0.72352	M	1.84	0.24656	T	-4.09	0.74821	D	0.867	0.86404	-0.8655	0.50864	T	0.124	0.42757	T	9	0.0645794	0.08585	T	0.012754	0.31594	T	0.234	0.53644	.	.	0.166414681773	0.16258	0.05964827180540713	0.05904	.	.	0.620438694954	0.55791	T	0.086812	0.37806	T	-0.351767	0.04617	T	-0.280487	0.46755	T	0.0780681681238823	0.09738	T	0.958204	0.84269	D	0.27301252	0.50370	0.41654703	0.65735	0.27301252	0.50369	0.41654703	0.65735	-6.515	0.50402	T	.	.	0.506	0.64835	A	.	.	4.506450	0.70528	25.5	0.99647351691884289	0.77068	0.97831	0.77455	D	AEFI	0.679079	0.64323	D	0.339956790089777	0.58211	3.99214	0.209950665881782	0.50399	3.232355	7.38658492822106E-4	0.07723	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.3	2.3	0.27735	7.882000	0.85748	11.290000	0.92000	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	9.191	0.36361	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1472.43	96	chr2	107862983	.	A	G	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=677;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.82;MQRankSum=0.883;QD=12.48;ReadPosRankSum=1.2;SOR=0.499	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr2	107866307	107866307	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon18:c.C2587T:p.H863Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00279255082743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.002	0.79402	D	0.02	0.18235	B	0.008	0.13708	B	.	.	.	.	0.95657	0.26293	N	0.46	0.12951	N	1.78	0.25678	T	-3.19	0.64593	D	0.331	0.37197	-1.0489	0.14705	T	0.050	0.21378	T	9	0.117120445	0.22111	T	0.002793	0.05810	T	0.062	0.17934	0.355	0.35571	0.0551355673512	0.04727	0.037720295582585404	0.03718	.	.	0.843544125557	0.88635	D	0.085946	0.37614	T	-0.157578	0.27133	T	-0.464127	0.26151	T	0.266489923104728	0.23597	T	0.868113	0.56980	D	0.17120335	0.37740	0.20056725	0.43995	0.17120335	0.37739	0.20056725	0.43994	-2.9	0.09143	T	.	.	0.137	0.29806	B	.	.	4.067519	0.60414	24.2	0.87849479811471132	0.17528	0.74512	0.36452	D	AEFI	0.319458	0.42286	N	-0.341362746348103	0.27591	1.515003	-0.280672256788466	0.28735	1.604482	2.23634056779839E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	4.332000	0.59063	7.711000	0.66806	0.253000	0.18341	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.8466:0.0:0.1534	6.283	0.20225	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	136.46	18	chr2	107866307	.	C	T	136.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=129;ExcessHet=0;FS=0;InbreedingCoeff=-0.0557;MLEAC=1;MLEAF=0.05;MQ=24.13;MQRankSum=-0.206;QD=10.5;ReadPosRankSum=0.138;SOR=0.859	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,180	9	0	1	0
chr2	107872884	107872884	T	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon20:c.T4880C:p.M1627T	.	151	1361	10	0	0	10	0.00366032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00183635641556	.	.	0.0011	0.0009	0.0005	0.0043	0	0.0003	0	0.0034	3.84e-05	1	26028	rs201588510	0.0007	0.0007	0.0005	0.0008	0.0053	0.0006	0.0006	0.0036	0.0032	0.0007	0.0003	0	0.0016	0	0.0053	0.0004	0.0007	0.0037	0.0003	0.0007	0.0003	0.0003	0.0014	0.0002	0.0002	0.0006	0.0004	0.0005	0	8.098e-05	0	0.0014	0	0	0.0002	0.0006	0.0014	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	1.22	0.37052	T	1.35	0.00889	N	0.035	0.01004	-0.9923	0.32012	T	0.025	0.10733	T	9	0.004611522	0.00096	T	0.001836	0.03167	T	0.041	0.10877	0.139	0.04277	0.0138822411134	0.00435	0.03637421827690041	0.03584	.	.	0.333091080189	0.15401	T	0.001416	0.00874	T	-0.354906	0.04427	T	-0.747574	0.03581	T	0.00370938999163125	0.00039	T	0.0842916	0.00619	T	0.049487047	0.08792	0.08095039	0.18356	0.049487047	0.08792	0.08095039	0.18356	-0.96	0.00956	T	.	.	0.054	0.00341	B	.	.	0.853677	0.12260	8.802	0.14606541904041104	0.00328	0.11499	0.16674	N	AEFI	0.028607	0.02550	N	-1.55868829667276	0.01484	0.06479897	-1.48024423659043	0.02506	0.1153927	1.20414177669338E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	2.18	0.922	0.18534	1.191000	0.31747	6.034000	0.52951	-0.765000	0.03488	0.994000	0.38300	1.000000	0.68203	0.457000	0.28051	0.5331:0.2451:0.0:0.2218	3.486	0.07183	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005089	0.000000	0.009669	0.000000	0.000000	0.000000	0.000000	0.008772	0.05	336.43	37	chr2	107872884	.	T	C	336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.189;DP=380;ExcessHet=0;FS=8.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.49;MQRankSum=-4.483;QD=6.6;ReadPosRankSum=-0.52;SOR=2.636	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	21749.2	34	chr2	108259015	.	G	*	21749.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.702;DP=1615;ExcessHet=0.3701;FS=0.589;InbreedingCoeff=0.1667;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.809;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:88,0:186:99:.:.:2331,2595,5009:.	7	1	2	0
chr2	108470596	108470596	A	G	exonic	GCC2	.	nonsynonymous SNV	GCC2:NM_181453:exon6:c.A1267G:p.N423D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00378354252875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	1.368e-06	0	1.378e-06	9.008e-07	0	0	.	.	0	0	0	0	0	0	9.008e-07	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.399	0.10517	T	0.806	0.09298	T	0.001	0.07471	B	0.001	0.04355	B	0.353981	0.13772	N	0.723899	0.991654	0.24002	N	1.63	0.41750	L	1.51	0.30937	T	-0.96	0.25551	N	0.128	0.12198	-1.0296	0.20583	T	0.052	0.21960	T	10	0.06075105	0.07510	T	0.003784	0.08806	T	0.107	0.30369	0.059	0.00196	0.374255764437	0.37033	0.05916898472194615	0.05856	0.061691340744	0.06874	0.338149189949	0.16161	T	0.025802	0.19224	T	-0.299166	0.08740	T	-0.667507	0.07769	T	0.0824060440063477	0.10292	T	0.544146	0.18565	T	0.060886085	0.12545	0.07191101	0.15453	0.060886085	0.12544	0.07191101	0.15452	-3.776	0.20446	T	.	.	0.077	0.06710	B	.;.	.;.	1.771711	0.22528	15.66	0.9790909177471423	0.36801	0.92823	0.56633	D	AEFGBI	0.133601	0.25332	N	-0.359702732474902	0.26918	1.472814	-0.209571020128718	0.31191	1.762932	0.499229228192823	0.20928	0.732398	0.92422	0	0.724815	0.89359	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	5.93	2.37	0.28337	2.248000	0.42812	6.068000	0.53231	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.7878:0.0:0.2122:0.0	9.202	0.36424	904	0.23766	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1145.43	35	chr2	108470596	.	A	G	1145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=1;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	9	0	1	0
chr2	108499593	108499593	A	G	exonic	GCC2	.	nonsynonymous SNV	GCC2:NM_181453:exon22:c.A4823G:p.E1608G	.	552	969	1	0	0	1	0.00051573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0592287427453	0.0009	0.00119808	0.0027	0.0010	0	0	0	0.0045	0	0.0004	0.0004592	71	154602	rs200853100	0.0036	0.0044	0.0037	0.0035	0.0044	0.0035	0.0035	0.0043	0.0043	0.0005	0.0014	0.0007	0	0.0006	0.0007	0.0044	0.0034	0.0003	0.0028	0.0030	0.0029	0.0026	0.0051	0.0025	0.0024	0.0047	0.0045	0.0007	0.0011	0.0013	0.0009	0	0.0008	0	0.0051	0.0009	0.0008	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.99985	0.49910	D	2.42	0.70002	M	0.99	0.41750	T	-5.35	0.84742	D	0.497	0.53006	-0.7040	0.60246	T	0.220	0.58292	T	10	0.012599438	0.00270	T	0.059229	0.67594	D	0.250	0.55888	.	.	0.540925512045	0.53744	0.4792741386885838	0.47847	0.116543839344	0.13151	0.622075378895	0.56022	T	0.443539	0.78729	T	-0.332015	0.05960	T	-0.250213	0.49795	T	0.112031845767115	0.13632	T	0.935406	0.75832	D	0.64162785	0.74918	0.6150064	0.77591	0.64162785	0.74919	0.6150064	0.77592	-13.322	0.90646	D	.	.	0.363	0.57405	A	.	.	4.414364	0.68315	25.2	0.99917682218753212	0.98518	0.96987	0.72040	D	AEFI	0.705825	0.66109	D	0.560471928735239	0.70720	5.543428	0.497767047501749	0.67840	5.138445	0.759552531887755	0.23487	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	4.01	0.45821	7.006000	0.76078	7.886000	0.72778	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9238:0.0:0.0762:0.0	10.572	0.44394	904	0.23766	GCC2, Rab binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001866	0.000000	0.000000	0.013158	0.000000	0.009091	0.000000	0.000000	0.05	320.43	34	chr2	108499593	.	A	G	320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.566;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.55;MQRankSum=-2.438;QD=2.18;ReadPosRankSum=0.353;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	9	0	1	0
chr2	108655195	108655195	C	G	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193485:exon1:c.C121G:p.L41V,LIMS1:NM_001371494:exon1:c.C121G:p.L41V,LIMS1:NM_001371499:exon1:c.C121G:p.L41V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00520010491285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.711e-07	6.857e-07	0	1.536e-06	1.035e-06	0	0	.	.	0	0	0	0	0	0	1.035e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.21678	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.81001	D	.	.	.	.	.	.	.	.	.	0.074	0.04790	-1.0217	0.23162	T	0.068	0.28013	T	9	0.10629144	0.19688	T	0.005	0.13248	T	.	.	0.678	0.81594	.	.	0.06072563491560959	0.06012	.	.	0.489895403385	0.37424	T	0.014918	0.12608	T	-0.260383	0.12856	T	-0.611798	0.11840	T	0.0665508508682251	0.08158	T	0.827017	0.49290	T	.	.	.	.	.	.	.	.	-4.169	0.26301	T	.	.	0.076	0.10497	B	.;.	.;.	1.893796	0.24054	16.25	0.98125503779176249	0.38473	0.34671	0.25122	N	AEFBI	0.203030	0.32958	N	-0.441645630469137	0.24024	1.294318	-0.310052374792321	0.27773	1.543503	0.997758707456844	0.35989	0.706298	0.61202	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.44	2.65	0.30588	0.811000	0.26855	0.375000	0.17719	0.593000	0.32247	0.509000	0.27025	0.326000	0.24349	0.985000	0.61073	0.0:0.6334:0.0:0.3666	8.181	0.30471	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	107.51	11	chr2	108655195	.	C	G	107.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.881;DP=108;ExcessHet=0;FS=0;InbreedingCoeff=-0.0594;MLEAC=1;MLEAF=0.05;MQ=25;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.298;SOR=0.693	GT:AD:DP:GQ:PL	0/0:14,0:14:33:0,33,495	9	0	1	0
chr2	108676009	108676009	G	A	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193482:exon6:c.G638A:p.G213D,LIMS1:NM_001193483:exon6:c.G662A:p.G221D,LIMS1:NM_001193484:exon6:c.G737A:p.G246D,LIMS1:NM_001193485:exon6:c.G812A:p.G271D,LIMS1:NM_001193488:exon6:c.G626A:p.G209D,LIMS1:NM_001371494:exon6:c.G812A:p.G271D,LIMS1:NM_001371495:exon6:c.G662A:p.G221D,LIMS1:NM_001371496:exon6:c.G689A:p.G230D,LIMS1:NM_001371497:exon6:c.G647A:p.G216D,LIMS1:NM_001371498:exon6:c.G626A:p.G209D,LIMS1:NM_004987:exon6:c.G626A:p.G209D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.388595568631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.44029	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	1.73	0.44655	L	-2.23	0.87116	D	-5.91	0.88904	D	0.963	0.97317	0.622	0.92186	D	0.745	0.91299	D	10	0.9387306	0.93200	D	0.388596	0.93136	D	0.888	0.96762	0.798	0.91802	0.94457938032	0.94399	0.8830277591279718	0.88270	.	.	0.948606193066	0.99719	D	0.635394	0.88752	D	0.421339	0.91090	D	0.367448	0.90979	D	0.997467875480652	0.91620	D	0.979402	0.92878	D	0.7851455	0.82971	0.7356579	0.84377	0.7851455	0.82973	0.7356579	0.84378	-13.94	0.92860	D	.	.	0.990	0.95290	P	.;.;.;.;.;.	.;.;.;.;.;.	5.413889	0.90608	31	0.99814382890259779	0.89797	0.99503	0.96817	D	AEFBI	0.944320	0.95126	D	0.762849224687108	0.83740	8.096994	0.752537488395161	0.86344	8.859825	0.999999999903869	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.2	5.2	0.71720	9.998000	0.99325	11.896000	0.99222	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	18.718	0.91643	855	0.34697	.;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1142.43	78	chr2	108676009	.	G	A	1142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.226;DP=432;ExcessHet=0;FS=3.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0;QD=14.65;ReadPosRankSum=-1.704;SOR=0.372	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	108755041	108755041	C	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon16:c.C2339T:p.P780L	.	139	1339	41	3	0	47	0.0172477	.	.	.	365612	Familial_acute_necrotizing_encephalopathy|not_provided|not_specified	MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.106	.	0.0050	0.0103834	0.0083	0.0019	0.0043	0.0289	0.0012	0.0048	0.0100	0.0209	0.0070892	1096	154602	rs61758802	0.0072	0.0072	0.0069	0.0075	0.0346	0.0071	0.0070	0.0331	0.0324	0.0010	0.0048	0.0048	0.0346	0.0007	0.0053	0.0059	0.0066	0.0201	0.0050	0.0050	0.0047	0.0054	0.0211	0.0047	0.0046	0.0178	0.0166	0.0012	0	0.0054	0.0063	0.0203	0.0005	0.0068	0.0055	0.0114	0.0211	0.006	0.61437	D	0.0	0.92824	D	0.08	0.24543	B	0.013	0.16460	B	.	.	.	.	0.720624	0.41334	D	2.085	0.57729	M	2.01	0.21291	T	-6.71	0.92518	D	0.225	0.25253	-1.1210	0.02269	T	0.023	0.09741	T	9	0.0070511103	0.00160	T	.	.	.	0.106	0.30130	.	.	0.301078425253	0.29709	0.5345138066050453	0.53376	1.06551080451	0.76615	0.538223028183	0.44194	T	0.829789	0.95924	D	-0.462804	0.00944	T	-0.41729	0.31385	T	0.0387030613274791	0.03457	T	0.79482	0.43725	T	0.12360301	0.29020	0.20846748	0.45150	0.12360301	0.29020	0.20846748	0.45149	-4.27	0.27754	T	.	.	0.099	0.16756	B	.	.	3.272021	0.44790	22.0	0.99814182742091295	0.89797	0.97359	0.74250	D	AEFBI	0.339065	0.43633	N	-0.0878478647518014	0.37925	2.213562	0.0741356962974324	0.43252	2.630885	0.982125366228784	0.30356	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	3.967000	0.56509	4.915000	0.45989	0.584000	0.30380	1.000000	0.71638	0.989000	0.31174	0.799000	0.37691	0.0:0.9302:0.0:0.0698	14.596	0.68006	858	0.34001	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008631	0.000000	0.009615	0.004505	0.000000	0.008929	0.008000	0.017241	0.05	2724.43	34	chr2	108755041	.	C	T	2724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.172;DP=550;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.42;MQRankSum=-6.121;QD=11.35;ReadPosRankSum=-0.037;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	0	1	0
chr2	108763701	108763701	G	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.G3162T:p.Q1054H	.	1	1518	3	0	0	3	0.000987167	.	.	.	707648	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	0.00413304255936	0.0032	0.00179712	0.0034	0.0013	0.0078	0	0.0020	0.0042	0.0033	0.0007	0.0031953	494	154602	rs141230513	0.0041	0.0041	0.0042	0.0041	0.0056	0.0040	0.0040	0.0051	0.0048	0.0006	0.0056	0.0003	0	0.0016	0.0014	0.0049	0.0029	0.0006	0.0029	0.0029	0.0034	0.0024	0.0051	0.0027	0.0026	0.0047	0.0045	0.0007	0	0.0027	0.0003	0	0.0007	0.0034	0.0051	0.0043	0.0012	0.051	0.39334	T	0.116	0.36497	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	0.993228	0.41873	D	0.83	0.20963	L	1.5	0.31205	T	-2.4	0.52776	N	0.103	0.08646	-1.0201	0.23682	T	0.024	0.10013	T	9	0.0045781434	0.00095	T	0.004133	0.09900	T	0.049	0.13647	0.11	0.02049	0.310597465726	0.30670	0.4595167391468343	0.45869	0.353701210671	0.37165	0.383305877447	0.22725	T	0.454044	0.79375	T	-0.592324	0.00162	T	-0.622655	0.10978	T	0.00608448766288202	0.00067	T	0.610839	0.23175	T	0.05668994	0.11188	0.078524195	0.17594	0.05668994	0.11187	0.078524195	0.17594	-5.561	0.42434	T	.	.	0.104	0.18705	B	.	.	1.630573	0.20816	14.92	0.83137274297631236	0.14562	0.79749	0.39579	D	AEFBCI	0.102685	0.20592	N	-0.970643373925936	0.09235	0.4362288	-0.907110762254219	0.11926	0.6105495	0.993750748637696	0.33341	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	-2.74	0.05582	0.196000	0.16979	1.002000	0.23268	-0.148000	0.12190	0.974000	0.34632	1.000000	0.68203	0.171000	0.21011	0.1694:0.1734:0.3921:0.2651	2.051	0.03355	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2875.43	33	chr2	108763701	.	G	T	2875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.067;DP=508;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=0.076;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	0	1	0
chr2	108763702	108763702	C	T	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C3163T:p.P1055S	.	1	1518	3	0	0	3	0.000987167	.	.	.	707649	not_provided|Familial_acute_necrotizing_encephalopathy	MedGen:C3661900|MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.059	0.00790727812728	0.0032	0.00179712	0.0034	0.0013	0.0078	0	0.0020	0.0042	0.0033	0.0007	0.0031953	494	154602	rs140860785	0.0041	0.0041	0.0042	0.0041	0.0056	0.0040	0.0040	0.0051	0.0048	0.0006	0.0056	0.0003	0	0.0016	0.0014	0.0049	0.0029	0.0006	0.0029	0.0029	0.0034	0.0024	0.0051	0.0027	0.0026	0.0047	0.0045	0.0007	0	0.0027	0.0003	0	0.0007	0.0034	0.0051	0.0043	0.0012	0.237	0.17881	T	0.085	0.41074	T	0.004	0.12183	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	1.845	0.48678	L	1.6	0.28604	T	-3.22	0.64939	D	0.203	0.22486	-1.0344	0.19046	T	0.035	0.15160	T	9	0.0050112903	0.00108	T	0.007907	0.20981	T	0.059	0.16972	.	.	0.378867003059	0.37503	0.38347490461699546	0.38262	0.357429898638	0.37461	0.379311025143	0.22159	T	0.470808	0.80377	T	-0.535538	0.00356	T	-0.541087	0.18189	T	0.0175675291027529	0.00490	T	0.70223	0.31206	T	0.07593522	0.17142	0.17480835	0.39902	0.07593522	0.17141	0.17480835	0.39901	-4.574	0.31843	T	.	.	0.079	0.07365	B	.	.	2.090755	0.26594	17.17	0.67567793021033762	0.08393	0.80655	0.40237	D	AEFBCI	0.061777	0.11833	N	-0.662665526898338	0.17092	0.8766029	-0.536626903630308	0.21161	1.143489	0.999562884895511	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	3.94	0.44807	0.972000	0.29007	1.842000	0.29195	0.599000	0.40250	0.976000	0.34826	1.000000	0.68203	0.140000	0.19946	0.0:0.8668:0.0:0.1332	13.003	0.58090	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	2875.43	33	chr2	108763702	.	C	T	2875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.488;DP=508;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.43;ReadPosRankSum=-0.184;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	0	1	0
chr2	108873469	108873469	T	C	exonic	CCDC138	.	nonsynonymous SNV	CCDC138:NM_001351561:exon10:c.T1210C:p.W404R,CCDC138:NM_001351559:exon11:c.T1225C:p.W409R,CCDC138:NM_001351545:exon13:c.T1697C:p.L566P,CCDC138:NM_001351548:exon13:c.T1586C:p.L529P,CCDC138:NM_001351549:exon13:c.T1535C:p.L512P,CCDC138:NM_001351551:exon13:c.T1532C:p.L511P,CCDC138:NM_001303106:exon14:c.T764C:p.L255P,CCDC138:NM_001351544:exon14:c.T1730C:p.L577P,CCDC138:NM_001351565:exon14:c.T764C:p.L255P,CCDC138:NM_144978:exon14:c.T1712C:p.L571P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0547989642254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.961	0.70482	D	0.000740	0.42129	D	0.097779	1	0.81001	D	2.36	0.67893	M	0.4	0.57261	T	-5.59	0.86527	D	0.915	0.91736	-0.3662	0.73077	T	0.316	0.68540	T	10	0.87628615	0.86920	D	0.054799	0.65991	D	0.486	0.77464	0.635	0.77142	0.914791411924	0.91393	0.7841847546220618	0.78369	0.363397901793	0.37968	0.625749766827	0.56542	T	0.305119	0.67739	T	0.244831	0.78116	D	0.113907	0.77831	D	0.994522929191589	0.85865	D	0.793521	0.43550	T	0.8898065	0.90490	0.89176077	0.94392	0.8898065	0.90492	0.89176077	0.94392	-11.9	0.84360	D	.	.	0.988	0.93093	P	.	.	5.156200	0.86381	28.9	0.9990049235973163	0.97275	0.98564	0.84144	D	AEFBI	0.839298	0.75672	D	0.670510536604297	0.77702	6.725617	0.628098570297703	0.76988	6.593771	0.999423546134397	0.39630	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.76	4.76	0.60189	5.458000	0.66416	5.982000	0.52185	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.248	0.65544	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	220.43	14	chr2	108873469	.	T	C	220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.784;DP=228;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.217;SOR=0.534	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,750	9	0	1	0
chr2	108882743	108882743	T	C	exonic	CCDC138	.	nonsynonymous SNV	CCDC138:NM_001351557:exon12:c.T1634C:p.I545T	.	1020	499	2	1	0	4	0.00399202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0	0	.	.	.	0	.	.	7.68e-05	2	26028	rs570780976	0	5.725e-05	0	0	.	0	0	.	.	0	.	0	.	.	0	0	0	.	0.0002	0.0002	6.425e-05	0.0003	0.0039	0.0001	9.235e-05	0.0026	0.0021	7.22e-05	0	0	0	0	0	0.0034	1.47e-05	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01905927	0.00421	T	.	.	.	.	.	.	.	0.719940562515	0.71747	.	.	.	.	.	.	.	.	.	.	-0.4641	0.00926	T	-0.904424	0.00472	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.63585	A	.	.	0.916392	0.12909	9.420	0.77373318850385553	0.11849	0.00770	0.03176	N	AEFDBI	0.025305	0.01711	N	.	.	.	.	.	.	0.680465746585641	0.22473	0.092769	0.02424	0	0.084543	0.02171	0	0.121787	0.03316	0	0.101684	0.03063	0	.	.	1.65	1.65	0.23015	0.002000	0.12962	0.960000	0.22984	0.497000	0.22564	0.000000	0.06391	0.002000	0.18203	0.157000	0.20547	0.0:0.0:0.0:1.0	5.396	0.15569	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1409.43	35	chr2	108882743	.	T	C	1409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.751;SOR=0.723	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1452	9	0	1	0
chr2	109544250	109544250	-	T	exonic	SEPTIN10	.	frameshift insertion	SEPTIN10:NM_001321498:exon12:c.1506dupA:p.L503Tfs*6	.	2	221	2	1	0	4	0.00896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00319489	0.0041	0.0011	0.0052	0.0004	0.0005	0.0059	0.0023	0.0016	0.0013063	34	26028	rs545969753	0.0044	0.0089	0.0045	0.0044	0.0235	0.0043	0.0043	0.0203	0.0190	0.0015	0.0053	0.0010	0.0001	0.0010	0.0235	0.0051	0.0043	0.0010	0.0035	0.0035	0.0036	0.0034	0.0072	0.0033	0.0032	0.0061	0.0057	0.0009	0	0.0072	0.0020	0	0.0008	0.0170	0.0051	0.0072	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	771.39	35	chr2	109544250	.	G	GT	771.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.338;DP=414;ExcessHet=0;FS=3.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=-1.462;SOR=1.073	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1013	9	0	1	0
chr2	109564424	109564424	G	A	exonic	SEPTIN10	.	nonsynonymous SNV	SEPTIN10:NM_001321503:exon4:c.C400T:p.R134C,SEPTIN10:NM_001321506:exon4:c.C400T:p.R134C,SEPTIN10:NM_001321511:exon4:c.C400T:p.R134C,SEPTIN10:NM_001321499:exon5:c.C469T:p.R157C,SEPTIN10:NM_001321504:exon5:c.C391T:p.R131C,SEPTIN10:NM_001321505:exon5:c.C391T:p.R131C,SEPTIN10:NM_001321508:exon5:c.C391T:p.R131C,SEPTIN10:NM_001321510:exon5:c.C469T:p.R157C,SEPTIN10:NM_001321496:exon6:c.C571T:p.R191C,SEPTIN10:NM_001321507:exon6:c.C571T:p.R191C,SEPTIN10:NM_001321500:exon7:c.C901T:p.R301C,SEPTIN10:NM_001321502:exon7:c.C901T:p.R301C,SEPTIN10:NM_001321515:exon7:c.C874T:p.R292C,SEPTIN10:NM_178584:exon7:c.C901T:p.R301C,SEPTIN10:NM_001321498:exon8:c.C970T:p.R324C,SEPTIN10:NM_001321501:exon8:c.C844T:p.R282C,SEPTIN10:NM_001321509:exon8:c.C844T:p.R282C,SEPTIN10:NM_001321512:exon8:c.C970T:p.R324C,SEPTIN10:NM_001321513:exon8:c.C943T:p.R315C,SEPTIN10:NM_001321514:exon8:c.C925T:p.R309C,SEPTIN10:NM_144710:exon8:c.C970T:p.R324C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.670	0.0847226887905	.	.	2.486e-05	0	0	0.0001	0	0	0	0.0001	1.94e-05	3	154602	rs766181304	1.249e-05	1.436e-05	2.754e-06	2.237e-05	3.66e-05	7.8e-06	6.44e-06	9.72e-06	5.08e-06	0	0	0	2.546e-05	0	0	1.182e-05	1.682e-05	3.66e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.13	0.34716	T	0.287	0.38282	B	0.127	0.37734	B	0.000003	0.62929	D	0.000000	1	0.81001	D	2.13	0.59329	M	-1.71	0.83157	D	-6.32	0.90852	D	0.732	0.73735	0.167	0.85345	D	0.653	0.87927	D	10	0.82037276	0.81246	D	0.084723	0.74385	D	0.670	0.87771	.	.	0.930659927052	0.92995	0.5566192088358923	0.55588	0.0773814425042	0.08700	0.706947803497	0.68150	T	0.078526	0.56859	T	0.260862	0.79609	D	0.320324	0.89103	D	0.724351406097412	0.41919	D	0.966303	0.87634	D	0.31850418	0.54513	0.2591091	0.51654	0.31850418	0.54513	0.2591091	0.51653	-10.784	0.79190	D	.	.	0.177	0.52467	B	.;.;.;.;.	.;.;.;.;.	4.481345	0.69927	25.4	0.99127223003626719	0.53169	0.98651	0.85151	D	AEFDBI	0.952971	0.96887	D	0.118055864164926	0.47305	2.958115	0.16442191837998	0.47911	3.014347	0.999999999999086	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.88	4.88	0.63131	6.505000	0.73620	7.592000	0.61280	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.358000	0.25841	0.0:0.0:1.0:0.0	18.41	0.90493	813	0.42397	Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1374.43	33	chr2	109564424	.	G	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.246;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-0.615;SOR=0.728	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1386,0,1353	9	0	1	0
chr2	110794148	110794148	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon5:c.G319A:p.E107K,ACOXL:NM_001365487:exon5:c.G319A:p.E107K,ACOXL:NM_001371254:exon5:c.G319A:p.E107K	.	428	1061	31	2	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	.	0.0031	0.00858626	0.0072	0.0012	0.0054	0.0001	0.0036	0.0048	0.0101	0.0267	0.0067011	1036	154602	rs150003283	0.0057	0.0057	0.0050	0.0064	0.0278	0.0056	0.0056	0.0269	0.0265	0.0010	0.0045	0.0067	0	0.0039	0.0137	0.0044	0.0058	0.0278	0.0046	0.0046	0.0044	0.0047	0.0313	0.0043	0.0042	0.0272	0.0257	0.0009	0.0132	0.0052	0.0037	0.0002	0.0052	0.0204	0.0048	0.0066	0.0313	0.181	0.38633	T	0.997	0.12281	T	0.963	0.55692	D	0.49	0.47330	P	0.017858	0.27622	N	0.269326	0.643766	0.32900	D	0.02	0.07987	N	-3.54	0.94799	D	-1.11	0.28703	N	0.454	0.51137	0.418	0.89363	D	0.620	0.86605	D	10	0.012831628	0.00274	T	.	.	.	0.417	0.72705	.	.	0.759181903428	0.75699	0.4340138023773377	0.43318	0.480607175355	0.47077	0.413700193167	0.26968	T	0.24249	0.61124	T	-0.200347	0.20756	T	-0.0409645	0.67637	D	0.01714679548178	0.00459	T	0.789521	0.45334	T	0.034968484	0.04025	0.05617905	0.09992	0.034968484	0.04025	0.05617905	0.09992	-6.138	0.55811	T	.	.	0.102	0.20235	B	.;.;.	.;.;.	2.961285	0.39439	21.0	0.99908643534056318	0.97875	0.70441	0.34591	D	AEFBI	0.114364	0.22529	N	-0.0346067539696674	0.40293	2.390379	-0.0312167145111858	0.38313	2.255471	0.988516361138336	0.31541	0.719381	0.83141	0	0.610034	0.51514	0	0.723133	0.82415	0	0.530356	0.10902	0	.	.	5.33	3.53	0.39533	2.062000	0.41039	0.634000	0.20256	0.676000	0.76740	0.990000	0.36992	0.084000	0.22431	0.987000	0.62547	0.0824:0.1491:0.7686:0.0	9.015	0.35324	867	0.32089	Acyl-CoA oxidase/dehydrogenase, central domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.013587	0.008772	0.000000	0.008621	0.012195	0.018939	0.05	1073.43	35	chr2	110794148	.	G	A	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.588;DP=392;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.535;SOR=0.866	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1085,0,735	9	0	1	0
chr2	111123978	111123978	C	T	exonic	BCL2L11	.	nonsynonymous SNV	BCL2L11:NM_001204108:exon2:c.C233T:p.P78L,BCL2L11:NM_001204109:exon2:c.C233T:p.P78L,BCL2L11:NM_138621:exon2:c.C233T:p.P78L,BCL2L11:NM_138622:exon2:c.C233T:p.P78L,BCL2L11:NM_138624:exon2:c.C233T:p.P78L,BCL2L11:NM_138626:exon2:c.C233T:p.P78L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0563606058769	7.7e-05	.	2.474e-05	0	0	0	0.0003	1.5e-05	0	0	1.94e-05	3	154602	rs142670904	4.788e-06	4.788e-06	0	9.625e-06	3.597e-06	1.99e-06	1.28e-06	8.4e-07	5.7e-07	0	0	0	0	5.616e-05	0	3.597e-06	0	0	1.971e-05	1.97e-05	0	4.034e-05	2.939e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.416e-05	0	2.939e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000009	0.62929	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.9	0.45248	T	-2.8	0.62343	D	0.913	0.95491	-0.7991	0.55197	T	0.180	0.52660	T	10	0.58325654	0.65968	D	0.056361	0.66577	D	0.273	0.58883	.	.	0.650668676097	0.64777	0.25335102286974975	0.25249	0.320073867842	0.34217	0.804417014122	0.82636	D	0.790837	0.94565	D	0.215734	0.75372	D	0.0721112	0.75051	D	0.947399437427521	0.62672	D	0.933007	0.74900	D	0.4390729	0.63343	0.41337234	0.65512	0.4390729	0.63343	0.41337234	0.65512	-4.933	0.38563	T	.	.	0.864	0.80557	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.579520	0.92288	32	0.99893667187520097	0.96742	0.83300	0.42428	D	AEFDBCI	0.598969	0.59216	D	0.637230206609972	0.75545	6.325	0.669307340936206	0.80053	7.214746	0.999999999997519	0.74766	0.489673	0.17934	0	0.296712	0.05252	1	0.759307	0.98198	0	0.508809	0.08732	0	.	.	5.5	5.5	0.81386	5.138000	0.64636	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.253	0.86933	783	0.47268	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	898.43	38	chr2	111123978	.	C	T	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=404;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=2.06;SOR=1.093	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	9	0	1	0
chr2	111784384	111784384	T	G	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon41:c.A4934C:p.E1645A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00528458422739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.178	0.29639	T	0.0	0.02946	B	0.0	0.01387	B	0.000123	0.49741	D	0.000000	0.999326	0.46670	D	0.58	0.15352	N	.	.	.	-1.78	0.42001	N	0.307	0.34659	-1.0355	0.18700	T	0.101	0.37443	T	9	0.14447856	0.27418	T	0.005285	0.13494	T	0.117	0.32689	0.342	0.33464	0.274366138417	0.27033	0.3868758130590885	0.38602	.	.	0.357072234154	0.18958	T	0.022777	0.17502	T	-0.111415	0.34536	T	-0.397817	0.33638	T	0.768936812877655	0.44375	D	0.829317	0.49436	T	0.10128438	0.23923	0.046160504	0.06374	0.10128438	0.23922	0.046160504	0.06373	-8.195	0.62392	D	.	.	0.108	0.20469	B	.	.	3.310933	0.45497	22.1	0.97760505643159235	0.35801	0.92764	0.56488	D	AEFGI	0.556727	0.56665	D	0.10886929184725	0.46877	2.921393	0.205214449940917	0.50137	3.208879	0.0102272415982654	0.11988	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.63	4.63	0.57175	4.154000	0.57902	7.939000	0.75402	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0812:0.1508:0.768	6.975	0.23850	892	0.26670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	818.43	39	chr2	111784384	.	T	G	818.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.09;DP=457;ExcessHet=0;FS=1.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.17;MQRankSum=-2.971;QD=8.71;ReadPosRankSum=0.2;SOR=0.876	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1243	9	0	1	0
chr2	112165027	112165027	G	A	exonic	FBLN7	.	nonsynonymous SNV	FBLN7:NM_001128165:exon3:c.G262A:p.A88T,FBLN7:NM_153214:exon3:c.G262A:p.A88T	.	.	.	.	.	.	.	.	.	.	.	3669049	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0155763583968	0.0002	.	3.3e-05	0	8.651e-05	0	0	4.502e-05	0	0	2.59e-05	4	154602	rs375781818	4.378e-05	4.378e-05	5.717e-05	3.025e-05	5.126e-05	3.509e-05	3.193e-05	4.005e-05	3.658e-05	0	4.472e-05	3.826e-05	0	0	0	5.126e-05	4.968e-05	1.16e-05	1.972e-05	2.627e-05	3.856e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.318	0.61437	T	0.35	0.20422	T	0.625	0.52202	P	0.129	0.42883	B	0.293300	0.14729	N	0.674841	1	0.08975	N	0.59	0.15444	N	-0.04	0.63240	T	-1.09	0.33197	N	0.2	0.34228	-1.0034	0.28933	T	0.125	0.43028	T	10	0.05860868	0.06918	T	0.015576	0.36391	T	0.092	0.26621	.	.	0.42748209135	0.42367	0.27645307617780973	0.27558	0.280792333993	0.30555	0.257786035538	0.04630	T	0.013256	0.11500	T	-0.380621	0.03088	T	-0.608666	0.12094	T	0.0214180946350098	0.00845	T	0.39816	0.10064	T	0.058361232	0.11731	0.06287207	0.12368	0.058361232	0.11731	0.06287207	0.12368	-5.472	0.41999	T	.	.	0.067	0.07745	B	.;.;.;.	.;.;.;.	0.326405	0.07005	3.564	0.86161657648991352	0.16353	0.10794	0.16197	N	AEFDBI	0.126305	0.24318	N	-0.841898835834521	0.12250	0.5959629	-0.849841589239296	0.13292	0.6886978	0.410430315433419	0.20207	0.516011	0.20929	0	0.547309	0.14657	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	5.6	1.74	0.23636	0.172000	0.16518	-0.257000	0.10458	-0.975000	0.01921	0.000000	0.06391	0.000000	0.08366	0.421000	0.27250	0.1245:0.4359:0.2938:0.1459	3.202	0.06257	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2176.43	38	chr2	112165027	.	G	A	2176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=495;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.327;SOR=0.805	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2188,0,1923	9	0	1	0
chr2	112310036	112310036	C	A	exonic	ZC3H6	.	nonsynonymous SNV	ZC3H6:NM_198581:exon4:c.C488A:p.T163K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00290058340544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.08335	T	0.184	0.29056	T	0.017	0.17573	B	0.007	0.12992	B	0.116614	0.19186	N	0.548659	0.998666	0.22000	N	2.125	0.59049	M	2.62	0.12988	T	0.12	0.05604	N	0.221	0.24883	-0.9555	0.40006	T	0.018	0.07612	T	10	0.058749825	0.06956	T	0.002901	0.06133	T	0.056	0.15993	0.223	0.14665	0.082315109003	0.07666	0.3068796672962141	0.30600	0.196392658314	0.21999	0.36840698123	0.20603	T	0.015209	0.12804	T	-0.236096	0.15851	T	-0.576912	0.14822	T	0.1572983572367	0.17670	T	0.269473	0.04507	T	0.052130442	0.09678	0.041468583	0.04721	0.052130442	0.09678	0.041468583	0.04721	-3.47	0.16014	T	.	.	0.115	0.25100	B	.;.	.;.	1.636592	0.20893	14.96	0.7467636976183204	0.10784	0.73766	0.36081	D	AEFGBI	0.185668	0.31299	N	-0.340885213835029	0.27609	1.516126	-0.139345434052642	0.33820	1.938733	4.12359494245463E-4	0.06899	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.86	3.98	0.45383	3.037000	0.49465	0.682000	0.20689	0.599000	0.40250	1.000000	0.71638	0.461000	0.25002	0.989000	0.64315	0.2632:0.5322:0.1194:0.0852	3.980	0.08983	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2051.43	34	chr2	112310036	.	C	A	2051.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=476;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.551;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	112738876	112738876	G	A	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon9:c.C1690T:p.R564C,CKAP2L:NM_152515:exon9:c.C2185T:p.R729C	Filippi syndrome, Autosomal recessive	439	1042	40	1	0	42	0.0197554	.	.	.	696976	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0082	0.00479233	0.0097	0.0021	0.0058	0	0.0057	0.0112	0.0077	0.0182	0.0093142	1440	154602	rs76036957	0.0098	0.0098	0.0093	0.0102	0.0181	0.0096	0.0096	0.0174	0.0171	0.0013	0.0068	0.0059	2.519e-05	0.0057	0.0099	0.0102	0.0086	0.0181	0.0078	0.0078	0.0079	0.0077	0.0141	0.0074	0.0073	0.0114	0.0104	0.0021	0.0493	0.0090	0.0095	0.0002	0.0038	0.0102	0.0112	0.0071	0.0141	0.0	0.91255	D	0.031	0.53788	D	0.966	0.56202	D	0.378	0.43788	B	0.001663	0.38326	N	0.247068	0.999705	0.81001	D	2.445	0.70938	M	1.34	0.34841	T	-4.35	0.76900	D	0.235	0.26475	-0.9756	0.35993	T	0.075	0.30086	T	10	0.006101191	0.00137	T	.	.	.	0.199	0.48268	.	.	0.220303561663	0.21668	0.6024839971628364	0.60179	0.33601122807	0.35606	0.41950160265	0.27768	T	0.055558	0.30039	T	-0.387086	0.02809	T	-0.314518	0.43171	T	0.0509182101076658	0.05661	T	0.851715	0.53598	D	0.38217694	0.59474	0.25210404	0.50833	0.3203046	0.54665	0.25210404	0.50832	-7.852	0.60057	D	0.6133946603070386	0.68116	0.191	0.40921	B	.	.	3.119182	0.42106	21.5	0.99421121823061132	0.63790	0.77125	0.37887	D	AEFBI	0.258980	0.37742	N	0.328897022263505	0.57636	3.931799	0.364932610761628	0.59413	4.119	0.992322588929736	0.32799	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.45	4.57	0.55860	2.049000	0.40912	4.964000	0.46359	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.1531:0.7642:0.0	8.592	0.32856	614	0.66605	Cytoskeleton-associated protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008056	0.005051	0.010870	0.002924	0.000000	0.000000	0.015244	0.015152	0.05	911.43	34	chr2	112738876	.	G	A	911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.846;DP=405;ExcessHet=0;FS=0.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.38;SOR=0.545	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	9	0	1	0
chr2	112756185	112756185	T	C	exonic	CKAP2L	.	nonsynonymous SNV	CKAP2L:NM_001304361:exon4:c.A691G:p.I231V,CKAP2L:NM_152515:exon4:c.A1186G:p.I396V	Filippi syndrome, Autosomal recessive	427	1094	1	0	0	1	0.00045683	.	.	.	1917615	not_provided|Filippi_syndrome	MedGen:C3661900|MONDO:MONDO:0010092,MedGen:C0795940,OMIM:272440,Orphanet:3255	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00254126963723	.	.	1.648e-05	0	0	0	0	0	0.0011	6.058e-05	1.94e-05	3	154602	rs772245567	2.189e-05	2.189e-05	1.633e-05	2.75e-05	0.0014	1.584e-05	1.356e-05	0.0007	0.0005	5.974e-05	0	0	0	0	0.0014	1.529e-05	3.312e-05	3.478e-05	2.626e-05	2.625e-05	1.285e-05	4.026e-05	1.47e-05	8.14e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0102	1.47e-05	0	0	0.089	0.32141	T	0.809	0.03956	T	0.206	0.29860	B	0.124	0.32546	B	0.103341	0.19752	N	0.442996	1	0.08975	N	1.7	0.43825	L	3.52	0.04905	T	0.17	0.05125	N	0.081	0.05670	-0.9560	0.39916	T	0.021	0.08917	T	10	0.052253515	0.05230	T	0.002541	0.05093	T	0.019	0.03383	.	.	0.258283824007	0.25425	0.05353273442369997	0.05295	0.0583122551693	0.06459	0.338102161884	0.16153	T	0.004294	0.03699	T	-0.382365	0.03011	T	-0.690163	0.06380	T	0.0434685660548894	0.04324	T	0.673133	0.28166	T	0.025402235	0.01474	0.03389587	0.02361	0.025402235	0.01474	0.03389587	0.02361	-2.967	0.09830	T	0.2668696599062325	0.35961	0.085	0.09965	B	.	.	0.214695	0.05978	2.418	0.31100447263994324	0.01735	0.06406	0.12409	N	AEFBI	.	.	.	-0.91320666808035	0.10533	0.5037551	-0.977881493754919	0.10282	0.5168929	0.999606283839007	0.40866	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.69	0.704	0.17280	0.027000	0.13512	-2.271000	0.03969	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.808000	0.38083	0.3682:0.0:0.1655:0.4662	4.739	0.12378	614	0.66605	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004028	0.005051	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2260.43	58	chr2	112756185	.	T	C	2260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.201;DP=689;ExcessHet=0;FS=1.179;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.07;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	9	0	1	0
chr2	113062547	113062547	C	T	exonic	IL36RN	.	nonsynonymous SNV	IL36RN:NM_012275:exon5:c.C338T:p.S113L,IL36RN:NM_173170:exon5:c.C338T:p.S113L	Psoriasis 14, pustular, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	39447	not_provided|IL36RN-related_disorder|Autoinflammatory_syndrome|Generalized_pustular_psoriasis|Acrodermatitis_continua_suppurativa_of_Hallopeau	MedGen:C3661900|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0100491,MedGen:C0343055,Orphanet:247353|MONDO:MONDO:0013626,MedGen:C0392439,OMIM:614204,Orphanet:163931	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.319	0.0846426936406	0.0023	0.00159744	0.0031	0.0008	0.0002	0	0.0065	0.0047	0.0022	0.0004	0.0029948	463	154602	rs144478519	0.0034	0.0034	0.0035	0.0034	0.0039	0.0034	0.0033	0.0038	0.0038	0.0004	0.0008	0.0001	2.519e-05	0.0065	0.0005	0.0039	0.0036	0.0005	0.0026	0.0026	0.0026	0.0026	0.0036	0.0024	0.0023	0.0033	0.0031	0.0007	0	0.0029	0	0	0.0062	0	0.0036	0.0019	0.0006	0.001	0.78490	D	0.003	0.76473	D	0.991	0.64070	D	0.421	0.45113	B	0.000000	0.84330	D	0.000000	0.617446	0.32675	D	3.295	0.90403	M	1.42	0.33189	T	-5.37	0.84882	D	0.886	0.88466	-0.6740	0.61647	T	0.104	0.38094	T	10	0.017353624	0.00370	T	0.084643	0.74368	D	0.319	0.64112	.	.	0.511561629741	0.50796	0.8982308985492573	0.89794	0.409613746433	0.41775	0.466264903545	0.34169	T	0.449517	0.79098	T	-0.0979121	0.36770	T	0.0868461	0.76035	D	0.100279739292853	0.12389	T	0.873413	0.58193	D	0.7078348	0.78488	0.650208	0.79535	0.7406224	0.80329	0.6598742	0.80075	-8.592	0.65036	D	0.5469790144303053	0.61598	0.399	0.63371	A	.;.;.	.;.;.	3.362082	0.46425	22.3	0.99876452885678191	0.95328	0.83664	0.42766	D	AEFDBI	0.112835	0.22288	N	0.294002387243119	0.55844	3.748519	0.22246307724421	0.51096	3.295169	0.120362465085024	0.16866	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.1	4.21	0.48984	2.785000	0.47470	3.300000	0.37375	0.599000	0.40250	0.984000	0.35821	0.998000	0.33993	0.242000	0.23054	0.0:0.9061:0.0:0.0939	10.219	0.42361	403	0.82567	Interleukin-1 conserved site;Interleukin-1 conserved site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1907.43	34	chr2	113062547	.	C	T	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.399;DP=433;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=1.53;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	9	0	1	0
chr2	113454746	113454746	A	T	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330336:exon6:c.A496T:p.I166L,CBWD2:NM_001330337:exon6:c.A496T:p.I166L,CBWD2:NM_172003:exon6:c.A496T:p.I166L,CBWD2:NM_001330339:exon7:c.A388T:p.I130L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0179732905427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.43085	D	0.207	0.37872	T	0.001	0.07471	B	0.019	0.18783	B	0.000667	0.42516	D	0.234322	0.965917	0.25917	N	1.325	0.33218	L	0.67	0.52187	T	-1.81	0.42575	N	0.464	0.50056	-1.0270	0.21429	T	0.080	0.31615	T	10	0.16765088	0.31271	T	0.017973	0.39871	T	0.065	0.18881	0.653	0.79068	0.128874641272	0.12493	0.10575840488234951	0.10505	.	.	0.590216994286	0.51524	T	0.038017	0.28396	T	-0.129247	0.31618	T	-0.423431	0.30682	T	0.374450027942657	0.27969	T	0.969436	0.89015	D	0.10928656	0.25837	0.12424514	0.29949	0.10928656	0.25837	0.12424514	0.29948	-7.237	0.55746	T	.	.	0.206	0.47697	B	.;.;.	.;.;.	2.060208	0.26197	17.03	0.93142636337625928	0.22786	0.73511	0.35958	D	AEFI	0.312866	0.41818	N	-0.471029028635038	0.23033	1.234081	-0.404077203314149	0.24876	1.364796	3.68239046605378E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	2.85	1.0	0.18999	1.992000	0.40357	0.606000	0.19981	0.347000	0.19874	1.000000	0.71638	0.005000	0.19230	0.936000	0.47498	0.5626:0.0:0.4374:0.0	4.497	0.11255	768	0.49510	CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain;CobW/HypB/UreG, nucleotide-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	448.43	34	chr2	113454746	.	A	T	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.095;DP=370;ExcessHet=0;FS=0.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.16;MQRankSum=1.5;QD=6.69;ReadPosRankSum=0.111;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1048	9	0	1	0
chr2	119158166	119158166	G	C	exonic	C1QL2	.	nonsynonymous SNV	C1QL2:NM_182528:exon1:c.C104G:p.P35R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.980819788608	.	.	0.0003	0	0	0	0	0	0	0.0013	8.41e-05	13	154602	rs746290387	5.263e-05	5.541e-05	2.509e-05	8.053e-05	0.0008	4.299e-05	3.922e-05	0.0006	0.0006	0	0	0	0	0	0	5.469e-06	8.508e-05	0.0008	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.992	0.64738	D	0.879	0.62418	P	0.000588	0.43095	D	0.155014	0.999731	0.48635	D	2.36	0.67893	M	-1.4	0.80474	T	-4.45	0.77717	D	0.622	0.63713	-0.3678	0.73028	T	0.418	0.76401	T	9	0.72802997	0.74106	D	0.98082	0.99900	D	0.563	0.82118	0.621	0.75576	0.925652262934	0.92489	0.5671637587796198	0.56644	2.0017420917	0.93834	0.915868759155	0.97993	D	0.152097	0.49233	T	-0.195274	0.21487	T	-0.140003	0.60118	T	0.588826298713684	0.35960	D	0.862114	0.55677	D	0.37102798	0.58661	0.61095595	0.77368	0.37102798	0.58661	0.61095595	0.77369	-5.947	0.45833	T	.	.	0.398	0.59443	A	.	.	4.915093	0.80898	27.4	0.99722081919330785	0.82125	0.96529	0.69595	D	AEFDBCI	0.812446	0.73518	D	0.358121217285153	0.59170	4.094201	0.348474928832118	0.58415	4.011925	0.999999938809581	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.530356	0.10902	0	.	.	4.23	3.33	0.37245	6.464000	0.73449	9.591000	0.81047	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:0.8103:0.1897	10.903	0.46272	941	0.13089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	499.43	35	chr2	119158166	.	G	C	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.506;DP=382;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-0.778;SOR=0.549	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,967	9	0	1	0
chr2	120222207	120222207	A	G	exonic	TMEM185B	.	nonsynonymous SNV	TMEM185B:NM_024121:exon1:c.T770C:p.L257S	.	429	1092	1	0	0	1	0.000457666	.	.	.	2359380	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.283989469402	.	.	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001358	21	154602	rs753108850	0.0005	0.0005	0.0004	0.0005	0.0011	0.0005	0.0004	0.0005	0.0005	9.486e-05	0.0005	0	0	0.0001	0.0011	0.0005	0.0005	0.0004	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	6.547e-05	0	0	9.414e-05	0	0.0004	0	0.0002	0.039	0.42487	D	0.001	0.83351	D	0.999	0.77913	D	0.981	0.75168	D	.	.	.	.	0.979545	0.25174	N	2.625	0.76847	M	1.14	0.38397	T	-5.26	0.84105	D	0.923	0.92667	.	.	.	.	.	.	.	0.85932124	0.85144	D	0.283989	0.90331	D	.	.	.	.	0.430239905395	0.42638	0.9031471853947273	0.90287	1.01292625865	0.74835	0.692802369595	0.66108	T	0.158189	0.50110	T	0.024465	0.54983	T	0.142304	0.79693	D	.	.	.	0.760924	0.38541	T	0.2642159	0.49488	0.38485286	0.63416	0.2642159	0.49488	0.38485286	0.63416	-5.304	0.39983	T	.	.	0.746	0.74862	P	.	.	4.772888	0.77289	26.7	0.99805859818247111	0.88995	0.91108	0.52876	D	AEDGBCI	0.877312	0.80187	D	.	.	.	.	.	.	0.999999999971871	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.493711	0.08198	1	0.735409	0.98432	0	.	.	3.77	3.77	0.42499	9.164000	0.93909	.	.	-0.122000	0.13826	1.000000	0.71638	0.992000	0.31684	0.383000	0.26402	1.0:0.0:0.0:0.0	11.121	0.47509	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001044	0.000000	0.001429	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1746.43	34	chr2	120222207	.	A	G	1746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=465;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.677;SOR=0.553	GT:AD:DP:GQ:PL	0/1:79,70:149:99:1758,0,1945	9	0	1	0
chr2	121397271	121397271	T	C	exonic	CLASP1	.	nonsynonymous SNV	CLASP1:NM_001142274:exon29:c.A2908G:p.I970V,CLASP1:NM_001207051:exon29:c.A2926G:p.I976V,CLASP1:NM_001378004:exon29:c.A2905G:p.I969V,CLASP1:NM_001378005:exon29:c.A2926G:p.I976V,CLASP1:NM_015282:exon29:c.A2992G:p.I998V,CLASP1:NM_001142273:exon30:c.A2932G:p.I978V,CLASP1:NM_001378003:exon30:c.A3013G:p.I1005V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00722867851433	.	.	8.682e-06	0	0	0	0	1.571e-05	0	0	6.5e-06	1	154602	rs745781521	6.159e-06	6.156e-06	6.809e-06	5.502e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	2.519e-05	0	0.0003	3.598e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.18823	T	0.208	0.34359	T	0.12	0.26678	B	0.077	0.28532	B	0.000000	0.84330	N	0.045981	0.999984	0.54805	D	2.67	0.78151	M	-0.15	0.65192	T	-0.33	0.13035	N	0.232	0.27197	-0.9565	0.39825	T	0.144	0.46732	T	10	0.19645163	0.35537	T	0.007229	0.19171	T	0.057	0.16321	0.223	0.14665	0.501370866149	0.49774	0.1437219933307982	0.14295	0.327267955316	0.34864	0.723267316818	0.70522	T	0.052956	0.29308	T	-0.175445	0.24416	T	-0.320663	0.42502	T	0.176141515374184	0.18988	T	0.879412	0.59551	D	0.05371201	0.10204	0.07395489	0.16127	0.05371201	0.10204	0.07395489	0.16127	-8.457	0.64144	D	.	.	0.225	0.49117	B	.;.;.;.;.;.	.;.;.;.;.;.	3.167115	0.42937	21.6	0.97016732436935926	0.32006	0.97412	0.74585	D	AEFBI	0.494088	0.53003	N	-0.246276691635368	0.31252	1.750539	-0.0463330225562692	0.37649	2.207274	0.999565813717508	0.40425	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	4.75	0.59954	5.152000	0.64727	6.214000	0.55048	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0721:0.0:0.9279	10.634	0.44745	974	0.05496	TOG domain;.;.;TOG domain;.;TOG domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1412.43	33	chr2	121397271	.	T	C	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=1.19;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr2	127419848	127419848	C	T	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375602:exon2:c.C89T:p.S30F	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	3	1504	15	0	0	15	0.00496196	.	.	.	4008078	Thrombophilia_due_to_protein_C_deficiency,_autosomal_recessive|Thrombophilia_due_to_protein_C_deficiency,_autosomal_dominant	MONDO:MONDO:0012860,MedGen:C2676759,OMIM:612304,Orphanet:745|MONDO:MONDO:0008316,MedGen:C2674321,OMIM:176860,Orphanet:745	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0006986	108	154602	rs61731661	0.0039	0.0039	0.0039	0.0039	0.0093	0.0038	0.0037	0.0073	0.0066	0.0005	0.0057	0.0048	2.539e-05	0.0094	0.0093	0.0039	0.0042	0.0007	0.0036	0.0036	0.0034	0.0038	0.0052	0.0034	0.0033	0.0047	0.0045	0.0006	0	0.0037	0.0055	0	0.0080	0.0034	0.0052	0.0047	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	358.43	21	chr2	127419848	.	C	T	358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.857;DP=200;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=0.568;SOR=0.724	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,736	9	0	1	0
chr2	127624208	127624208	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon29:c.G3857A:p.R1286Q	.	.	.	.	.	.	.	.	.	.	.	4027358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.797	0.245767759653	8.2e-05	.	8.127e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs375117051	3.806e-05	4.583e-05	3.846e-05	3.765e-05	4.345e-05	2.994e-05	2.686e-05	3.365e-05	2.975e-05	3.025e-05	2.324e-05	0	0	0	0	4.345e-05	6.691e-05	1.205e-05	0	6.561e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.988	0.77976	D	0.000083	0.51296	D	0.133097	0.999994	0.58761	D	2.555	0.74557	M	-1.58	0.81987	D	-3.84	0.73151	D	0.672	0.96984	0.614	0.92078	D	0.719	0.90364	D	10	0.8640479	0.85639	D	0.245768	0.88900	D	0.797	0.93346	.	.	0.864110083268	0.86279	0.8017268491628023	0.80126	0.423899913073	0.42835	0.480816602707	0.36169	T	0.10568	0.72633	T	0.286976	0.81906	D	0.174444	0.81672	D	0.986036717891693	0.76859	D	0.999726	0.99933	D	0.7677439	0.81913	0.73143077	0.84130	0.7677439	0.81914	0.73143077	0.84131	-8.954	0.67400	D	.	.	0.090	0.23709	B	.;.;.;.	.;.;.;.	6.035501	0.94400	34	0.99950878387796926	0.99944	0.98165	0.80163	D	AEFBI	0.942045	0.94612	D	0.789691922232034	0.85456	8.581502	0.697606207165745	0.82198	7.707802	0.99999999999978	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.59	3.59	0.40253	9.497000	0.96954	5.772000	0.49749	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.086	0.80864	946	0.12043	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain;FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1503.43	38	chr2	127624208	.	G	A	1503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.28;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.986;SOR=0.654	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr2	127650976	127650976	G	A	exonic	GPR17	.	nonsynonymous SNV	GPR17:NM_001161417:exon2:c.G241A:p.V81M,GPR17:NM_001161416:exon3:c.G241A:p.V81M,GPR17:NM_005291:exon3:c.G325A:p.V109M,GPR17:NM_001161415:exon4:c.G325A:p.V109M	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0248828984778	0.0022	0.00139776	0.0033	0.0004	0.0022	0.0003	0.0051	0.0048	0.0011	0.0008	0.0030724	475	154602	rs141840938	0.0030	0.0030	0.0029	0.0031	0.0107	0.0029	0.0029	0.0086	0.0078	0.0004	0.0032	0.0024	0.0002	0.0041	0.0107	0.0032	0.0035	0.0009	0.0030	0.0030	0.0028	0.0031	0.0048	0.0027	0.0027	0.0044	0.0042	0.0005	0	0.0024	0.0023	0.0002	0.0040	0	0.0048	0.0047	0.0019	0.002	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	0.999992	0.81001	D	2.23	0.63091	M	1.68	0.37910	T	-2.36	0.52128	N	0.81	0.84817	-0.8742	0.50211	T	0.144	0.46678	T	10	0.010150522	0.00227	T	0.024883	0.47865	T	0.240	0.54500	.	.	0.293147016451	0.28931	0.48895216005974207	0.48815	0.89472933441	0.70406	0.683530986309	0.64776	T	0.344366	0.71289	T	-0.291134	0.09524	T	-0.186685	0.55901	T	0.0165033362219932	0.00414	T	0.929907	0.82243	D	0.7208412	0.79208	0.7234727	0.83669	0.7208412	0.79210	0.7234727	0.83670	-8.027	0.61254	D	.	.	0.490	0.64127	A	.;.;.;.	.;.;.;.	5.002437	0.83007	27.9	0.99887754434430742	0.96281	0.93537	0.58487	D	AEFDBCI	0.911978	0.87199	D	0.779525875054717	0.84809	8.39273	0.766797955880007	0.87404	9.211103	0.99999999847222	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.608075	0.38828	0	0.604944	0.38103	0	.	.	5.47	5.47	0.80345	7.976000	0.87674	11.902000	0.99384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.143:0.857:0.0	14.890	0.70244	946	0.12043	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	2714.43	35	chr2	127650976	.	G	A	2714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.056;DP=542;ExcessHet=0;FS=3.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.599;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1143	9	0	1	0
chr2	127702037	127702037	T	C	exonic	SFT2D3	.	nonsynonymous SNV	SFT2D3:NM_032740:exon1:c.T509C:p.V170A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.177002340601	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489189643	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.04897	T	0.745	0.04895	T	0.0	0.02946	B	0.002	0.06944	B	0.040624	0.24037	N	0.352028	1	0.81001	D	-0.265	0.03777	N	0.82	0.48142	T	-0.8	0.22078	N	0.05	0.02179	-1.0344	0.19046	T	0.049	0.20789	T	10	0.08438343	0.14138	T	0.177002	0.85259	D	0.047	0.12962	0.685	0.82271	0.429552544315	0.42571	0.31859135372381026	0.31772	.	.	0.92147809267	0.98435	D	0.004095	0.03502	T	-0.264416	0.12387	T	-0.617592	0.11374	T	0.0352564996565316	0.02851	T	0.515049	0.16594	T	0.044627484	0.07166	0.05751836	0.10469	0.044627484	0.07166	0.05751836	0.10469	-2.386	0.05047	T	.	.	0.069	0.02960	B	.	.	2.053704	0.26112	17.00	0.820684231363912	0.14002	0.04116	0.09590	N	ALL	0.024546	0.01538	N	-1.13455292677325	0.06038	0.2768925	-1.06211893019878	0.08456	0.415861	0.999999999999731	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.47	-1.37	0.08582	0.380000	0.20331	-0.012000	0.13046	0.439000	0.21057	0.996000	0.39380	0.008000	0.19753	0.856000	0.40543	0.0:0.4306:0.0:0.5694	8.293	0.31132	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	309.54	7	chr2	127702037	.	T	C	309.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.598;DP=100;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.062;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.35;ReadPosRankSum=-0.808;SOR=0.132	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	9	0	1	0
chr2	128179817	128179817	A	G	exonic	UGGT1	.	nonsynonymous SNV	UGGT1:NM_020120:exon35:c.A3847G:p.K1283E	.	436	1074	10	2	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0194581668712	0.0015	0.00159744	0.0017	0.0005	0.0010	0	0.0017	0.0026	0.0011	0.0002	0.0015847	245	154602	rs114284257	0.0018	0.0018	0.0018	0.0018	0.0090	0.0018	0.0017	0.0071	0.0064	0.0003	0.0013	0.0060	0	0.0013	0.0090	0.0020	0.0020	0.0002	0.0013	0.0013	0.0013	0.0013	0.0018	0.0012	0.0011	0.0014	0.0013	0.0005	0	0.0018	0.0046	0	0.0012	0.0102	0.0017	0.0028	0.0002	0.039	0.42487	D	0.058	0.46182	T	0.075	0.24198	B	0.066	0.27432	B	0.000000	0.84330	D	0.090971	0.999777	0.48980	D	2.59	0.75718	M	2.0	0.21473	T	-2.38	0.52451	N	0.288	0.32591	-0.8176	0.54084	T	0.169	0.50907	T	9	0.009828001	0.00221	T	0.019458	0.41828	T	0.079	0.23065	.	.	0.288727942641	0.28479	0.5626569811859852	0.56192	0.764450363023	0.64417	0.742819011211	0.73387	T	0.208924	0.56899	T	-0.391323	0.02638	T	-0.3395	0.40402	T	0.0394233634749624	0.03586	T	0.90391	0.66280	D	0.34250578	0.56478	0.24398246	0.49854	0.34250578	0.56478	0.24398246	0.49853	-7.104	0.54789	T	.	.	0.084	0.09675	B	.	.	3.080762	0.41440	21.4	0.98127191047382278	0.38489	0.87782	0.47440	D	AEFBCI	0.337419	0.43523	N	0.228667214225808	0.52592	3.432458	0.280202604193371	0.54384	3.603607	0.999992089194104	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.72	4.56	0.55644	3.179000	0.50587	6.136000	0.53985	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.7166:0.1408:0.1426:0.0	5.846	0.17917	427	0.81056	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1430.43	34	chr2	128179817	.	A	G	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.239;DP=411;ExcessHet=0;FS=2.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.471;SOR=0.459	GT:AD:DP:GQ:PL	0/1:38,61:99:99:1442,0,824	9	0	1	0
chr2	130074900	130074900	C	T	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.G2572A:p.G858R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.00173090668559	.	0.000199681	0.0001	0	0	0	0.0002	0.0002	0	0.0001	0.0001164	18	154602	rs201025840	6.177e-05	7.185e-05	4.917e-05	7.45e-05	0.0002	5.112e-05	4.731e-05	0.0002	0.0001	0	0	0	5.043e-05	0.0002	0	4.421e-05	9.968e-05	0.0002	4.397e-05	4.633e-05	5.691e-05	3.023e-05	6.327e-05	1.878e-05	1.236e-05	2.076e-05	1.294e-05	0	0	0	0	0	0.0002	0	6.327e-05	0	0	0.0	0.91255	D	0.022	0.57587	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.881831	0.28035	N	3.51	0.92865	H	2.69	0.12268	T	-6.02	0.89684	D	0.416	0.45615	-0.9633	0.38547	T	0.131	0.44108	T	8	0.8343182	0.82589	D	0.001731	0.02908	T	0.307	0.62838	0.948	0.99368	0.267755039894	0.26402	0.2557204532884721	0.25486	.	.	0.614585757256	0.54964	T	0.589254	0.86668	D	-0.274424	0.11268	T	-0.352532	0.38913	T	0.408757925439322	0.29271	T	0.850515	0.53399	D	0.41058555	0.61458	0.36660424	0.61986	0.41058555	0.61458	0.36660424	0.61986	-10.24	0.75336	D	.	.	0.535	0.66142	A	.	.	2.083470	0.26501	17.14	0.99538125202607164	0.70336	0.50101	0.28585	D	AEFI	0.252309	0.37202	N	0.102180736722081	0.46565	2.894882	-0.259964884225403	0.29429	1.64872	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.003000	0.18671	0.133000	0.19684	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	931.43	118	chr2	130074900	.	C	T	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.62;DP=1050;ExcessHet=0;FS=41.007;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.84;MQRankSum=-7.644;QD=5.93;ReadPosRankSum=-2.054;SOR=3.556	GT:AD:DP:GQ:PL	0/0:136,0:136:99:0,104,1800	9	0	1	0
chr2	130115242	130115242	T	C	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon4:c.A608G:p.D203G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.00923769273698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.59928	D	0.0	0.92824	D	0.991	0.64070	D	0.945	0.68163	D	0.000117	0.50451	D	0.000000	0.992803	0.41748	D	2.135	0.59519	M	0.23	0.85393	T	-1.51	0.86988	N	0.667	0.74371	0.202	0.85940	D	0.662	0.88246	D	10	0.6725204	0.70797	D	0.009238	0.24272	T	0.258	0.56959	0.601	0.73226	0.269558022972	0.26553	0.25822168627804276	0.25736	.	.	0.88701915741	0.94884	D	0.007383	0.06790	T	0.054995	0.58982	T	-0.15878	0.58461	T	0.707982897758484	0.41102	D	0.815918	0.78488	T	0.12013627	0.28275	0.096309125	0.22879	0.12013627	0.28275	0.096309125	0.22879	-11.6	0.82848	D	.	.	0.799	0.77227	P	.;.	.;.	2.818665	0.37125	20.4	0.99166154888982294	0.54241	0.70574	0.34647	D	AEFDI	0.161082	0.28709	N	0.020257481258202	0.42777	2.583858	-0.24790922719135	0.29844	1.675333	7.2088409215156E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.525792	0.08840	0	.	.	1.13	1.13	0.19758	4.844000	0.62544	.	.	0.309000	0.19094	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.0:1.0	4.529	0.11400	982	0.03397	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2989.43	117	chr2	130115242	.	T	C	2989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=1155;ExcessHet=0;FS=3.285;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.09;MQRankSum=1.16;QD=10.75;ReadPosRankSum=-0.448;SOR=0.907	GT:AD:DP:GQ:PL	0/0:102,0:102:99:0,120,1800	9	0	1	0
chr2	130120485	130120485	C	G	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon3:c.G31C:p.A11P	.	429	1054	39	0	0	39	0.0181649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0019	0.00798722	0.0046	0.0196	0.0025	0	0.0023	0.0041	0.0102	0.0028	0.0029584	77	26028	rs201109823	0.0032	0.0032	0.0031	0.0033	0.0315	0.0031	0.0031	0.0277	0.0262	0.0182	0.0033	0.0122	0	0.0014	0.0315	0.0025	0.0054	0.0030	0.0080	0.0080	0.0082	0.0077	0.0182	0.0076	0.0074	0.0171	0.0167	0.0182	0	0.0069	0.0136	0	0.0009	0.0340	0.0037	0.0071	0.0043	0.0	0.91255	D	0.002	0.79402	D	0.909	0.50183	P	0.665	0.52961	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.51	0.81399	D	-0.65	0.32791	N	0.219	0.31027	-0.6341	0.63397	T	0.381	0.73766	T	7	0.005183339	0.00113	T	.	.	.	0.156	0.40720	.	.	0.101711395817	0.09552	0.022986211366154648	0.02250	.	.	0.474681586027	0.35325	T	0.017655	0.14364	T	-0.322528	0.06693	T	-0.221786	0.52566	T	0.0378075159640915	0.03297	T	0.750425	0.37862	T	0.23493005	0.46320	0.39268032	0.64006	0.23493005	0.46320	0.39268032	0.64006	-3.384	0.14842	T	.	.	0.161	0.35477	B	.;.	.;.	1.710486	0.21783	15.35	0.99195711931916741	0.55112	0.00378	0.01916	N	AEFI	0.057807	0.10798	N	-0.668355262314807	0.16926	0.8667242	-0.938220174050629	0.11197	0.5689714	1.10476958756432E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	0.899000	0.28049	.	.	0.268000	0.18485	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027027	0.012195	0.032787	0.067227	0.000000	0.052632	0.006757	0.011811	0.05	1766.43	43	chr2	130120485	.	C	G	1766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.51;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.32;MQRankSum=-3.015;QD=10.77;ReadPosRankSum=1.17;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1418	9	0	1	0
chr2	130192015	130192015	C	T	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon5:c.G1169A:p.R390H	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.0520355668385	0.0012	0.00119808	0.0015	0.0007	0.0008	0	0.0011	0.0021	0.0022	0.0008	0.0012872	199	154602	rs142673044	0.0019	0.0019	0.0019	0.0019	0.0078	0.0018	0.0018	0.0060	0.0054	0.0005	0.0007	0.0037	0	0.0013	0.0078	0.0021	0.0020	0.0008	0.0011	0.0011	0.0013	0.0009	0.0018	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0001	0.0043	0.0004	0.0005	0	0.0018	0.0009	0.0006	.	.	.	0.108	0.37589	T	0.127	0.26966	B	0.118	0.32088	B	0.000132	0.49741	U	0.000000	0.999632	0.47961	D	2.915	0.84231	M	-1.75	0.83495	D	-3.42	0.67241	D	0.743	0.74280	0.187	0.85684	D	0.563	0.84114	D	10	0.047296613	0.04028	T	0.052036	0.64907	D	0.657	0.87135	.	.	0.89226095772	0.89119	0.4417820980022278	0.44095	.	.	0.584975838661	0.50787	T	0.635924	0.88775	D	-0.0973624	0.36862	T	0.0801055	0.75585	D	0.139245137572289	0.16209	T	0.876412	0.58869	D	0.7777611	0.82516	0.45426646	0.68266	0.7777611	0.82518	0.45426646	0.68267	-10.58	0.77305	D	.	.	0.098	0.16231	B	.	.	3.377084	0.46690	22.3	0.98954512059514055	0.49208	0.75489	0.36963	D	AEFGBCI	0.773566	0.70754	D	0.0694160194340757	0.45039	2.767328	0.0842266236580134	0.43755	2.670763	0.997762595797099	0.36002	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	2.96	2.96	0.33383	4.422000	0.59604	.	.	0.505000	0.23025	1.000000	0.71638	0.000000	0.08366	0.040000	0.14268	0.0:1.0:0.0:0.0	11.691	0.50780	982	0.03397	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002643	0.005051	0.000000	0.004098	0.000000	0.000000	0.006098	0.000000	0.05	1021.43	37	chr2	130192015	.	C	T	1021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=498;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.98;MQRankSum=-10.59;QD=7.14;ReadPosRankSum=-0.407;SOR=0.898	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr2	130341033	130341033	C	T	exonic	CCDC115	.	nonsynonymous SNV	CCDC115:NM_001321118:exon4:c.G290A:p.R97Q,CCDC115:NM_001321119:exon4:c.G281A:p.R94Q,CCDC115:NM_032357:exon4:c.G305A:p.R102Q	Congenital disorder of glycosylation, type IIo, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1862397	CCDC115-CDG|not_provided	MONDO:MONDO:0014789,MedGen:C4225191,OMIM:616828,Orphanet:468684|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.24823955846	.	0.000399361	8.01e-05	0.0005	0	0	0	6.25e-05	0	0	5.82e-05	9	154602	rs537888072	2.891e-05	3.01e-05	2.874e-05	2.907e-05	0.0010	2.165e-05	1.919e-05	0.0005	0.0003	0.0003	2.319e-05	0	2.525e-05	0	0.0010	1.895e-05	3.335e-05	2.352e-05	0.0001	0.0001	8.994e-05	0.0002	0.0004	9.737e-05	8.252e-05	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	5.881e-05	0	0	0.007	0.59928	D	0.081	0.47336	T	0.996	0.77913	D	0.866	0.62698	P	0.000068	0.52346	D	0.074741	0.999893	0.19781	N	2.8	0.81625	M	-3.67	0.95247	D	-3.07	0.63207	D	0.396	0.44187	0.382	0.88832	D	0.869	0.95644	D	10	0.1814296	0.33375	T	0.24824	0.89002	D	0.330	0.65226	0.243	0.17677	0.955802236948	0.95533	0.7010738074291041	0.70048	0.924713105893	0.71596	0.595148801804	0.52219	T	0.138733	0.50677	T	-0.101865	0.36116	T	-0.0457061	0.67314	D	0.734516084194183	0.42446	D	0.779722	0.41422	T	0.22983767	0.45727	0.2245513	0.47370	0.22983767	0.45727	0.2245513	0.47369	-4.509	0.31006	T	0.660636120458552	0.73408	0.222	0.47316	B	.;.	.;.	4.268124	0.64919	24.8	0.99595810465334833	0.73866	0.53452	0.29375	D	AEFBHCI	0.150519	0.27482	N	-0.0530028953738223	0.39468	2.327985	-0.249670191344572	0.29784	1.671437	0.999964836041685	0.48965	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	3.65	2.77	0.31614	1.497000	0.35257	.	.	0.599000	0.40250	0.786000	0.29545	1.000000	0.68203	0.040000	0.14268	0.0:0.8914:0.0:0.1086	9.419	0.37700	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	552.43	38	chr2	130341033	.	C	T	552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.455;SOR=0.667	GT:AD:DP:GQ:PL	0/0:29,0:29:72:0,72,1080	9	0	1	0
chr2	130509040	130509040	A	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.T196C:p.C66R,POTEI:NM_001371926:exon2:c.T196C:p.C66R	.	438	1014	22	0	48	70	0.0107317	.	.	.	3886675	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.078	.	.	0.00798722	0.0003	0.0004	0	0	0	0.0006	0	0.0001	0.0015368	40	26028	rs28624496	0.0004	0.0039	0.0004	0.0004	0.0014	0.0004	0.0004	0.0006	0.0005	9.494e-05	0.0004	0.0016	0.0002	0	0.0014	0.0004	0.0008	0.0002	0.0003	0.0083	0.0002	0.0003	0.0009	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0.0001	0	0.0004	0	0.0009	1.0	0.00964	T	0.895	0.03863	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.11	0.08516	N	-0.97	0.75670	T	-0.07	0.08033	N	0.04	0.03175	-0.8817	0.49625	T	0.180	0.52613	T	6	0.005124539	0.00111	T	.	.	.	0.078	0.22779	.	.	0.188950314367	0.18478	0.0529668963886371	0.05238	.	.	0.501408100128	0.39024	T	0.011428	0.10197	T	-0.42832	0.01517	T	-0.61636	0.11473	T	0.0247650453648866	0.01242	T	0.30147	0.06003	T	0.08477733	0.19637	0.17651471	0.40191	0.08477733	0.19636	0.17651471	0.40190	-6.193	0.47866	T	.	.	0.348	0.56462	A	.;.;.	.;.;.	-0.512607	0.01826	0.145	0.10100012595628233	0.00119	0.00006	0.00120	N	AEFI	0.011642	0.00107	N	-1.8558285140909	0.00423	0.01816932	-2.06035745378489	0.00227	0.01001295	2.42689208294814E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-1.799000	0.01842	.	.	-2.355000	0.00307	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1	308.14	41	chr2	130509040	.	A	G	308.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.54;DP=1296;ExcessHet=0.2348;FS=13.374;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.31;MQRankSum=-9.023;QD=0.48;ReadPosRankSum=-5.645;SOR=2.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,23:306:99:1|0:130508957_C_A:100,0,11451:130508957	8	0	2	0
chr2	130621539	130621539	G	A	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon5:c.G880A:p.V294I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	.	0.0044	0.0292	0.0017	0	0	0	0	0	3.84e-05	1	26028	rs755722598	0.0004	0.0006	0.0005	0.0004	0.0172	0.0004	0.0004	0.0161	0.0156	0.0172	0.0004	0	0	0	0	8.1e-06	0.0008	0	0.0039	0.0052	0.0040	0.0038	0.0137	0.0036	0.0035	0.0128	0.0124	0.0137	0	0.0008	0	0	0	0	4.413e-05	0.0048	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.59	0.15444	N	-0.18	0.65747	T	-0.18	0.09796	N	0.06	0.03175	-0.9860	0.33590	T	0.105	0.38366	T	7	0.0048311353	0.00103	T	.	.	.	0.030	0.07022	.	.	0.0884992946249	0.08302	0.047701045604350525	0.04713	.	.	.	.	.	0.015329	0.12882	T	-0.176956	0.24190	T	-0.491961	0.23186	T	0.0200937504063997	0.00710	T	0.59464	0.22023	T	0.087365285	0.20342	0.07073533	0.15064	0.087365285	0.20342	0.07073533	0.15064	-4.491	0.30770	T	.	.	0.111	0.21390	B	.	.	0.116716	0.05149	1.672	0.97199876232161309	0.32806	0.00276	0.01495	N	AEFI	0.023565	0.01332	N	-0.916889831478489	0.10448	0.49926	-1.10120874826737	0.07677	0.3743888	1.11738232398089E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.755	-0.238	0.12411	-0.433000	0.07017	.	.	0.314000	0.19222	0.004000	0.16614	0.000000	0.08366	0.004000	0.06068	0.3493:0.0:0.6507:0.0	3.110	0.05973	970	0.06235	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	175.43	40	chr2	130621539	.	G	A	175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.236;DP=403;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.79;MQRankSum=-1.199;QD=2.11;ReadPosRankSum=0.148;SOR=0.867	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1326	9	0	1	0
chr2	131046047	131046047	G	A	exonic	ARHGEF4	.	nonsynonymous SNV	ARHGEF4:NM_001375903:exon10:c.G1721A:p.R574Q,ARHGEF4:NM_001375902:exon11:c.G1778A:p.R593Q,ARHGEF4:NM_001375904:exon11:c.G1562A:p.R521Q,ARHGEF4:NM_001375900:exon13:c.G1976A:p.R659Q,ARHGEF4:NM_001367493:exon14:c.G5489A:p.R1830Q,ARHGEF4:NM_015320:exon15:c.G1931A:p.R644Q,ARHGEF4:NM_001375901:exon16:c.G1820A:p.R607Q	.	436	1076	10	0	0	10	0.00462535	.	.	.	3191776	ARHGEF4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.161	.	.	0.00479233	0.0018	0	8.655e-05	0	0	7.665e-05	0.0011	0.0128	0.0015524	240	154602	rs528934869	0.0008	0.0008	0.0005	0.0011	0.0116	0.0008	0.0007	0.0110	0.0107	5.978e-05	0	0	5.045e-05	0	0.0017	7.474e-05	0.0010	0.0116	0.0006	0.0006	0.0004	0.0008	0.0149	0.0005	0.0004	0.0122	0.0111	4.812e-05	0	6.533e-05	0	0	0	0	0.0001	0.0005	0.0149	0.154	0.44358	T	0.338	0.37589	T	0.999	0.77913	D	0.848	0.60574	P	0.000001	0.62929	D	0.053681	0.999714	0.81001	D	1.75	0.45442	L	1.32	0.47815	T	-0.99	0.26200	N	0.089	0.38335	-0.9670	0.37814	T	0.155	0.48585	T	10	0.006344646	0.00143	T	.	.	.	0.161	0.41658	.	.	0.855232234654	0.85383	0.39499465036624204	0.39414	0.23784296459	0.26331	0.306786000729	0.11421	T	0.01817	0.33316	T	-0.3605	0.04102	T	-0.280222	0.46781	T	0.0713917149893983	0.08845	T	0.864713	0.56210	D	0.116076715	0.27383	0.065911695	0.13428	0.116076715	0.27383	0.065911695	0.13427	-3.861	0.22632	T	.	.	0.090	0.23640	B	.;.;.;.;.;.	.;.;.;.;.;.	4.182598	0.62975	24.5	0.99658986777332981	0.77820	0.89590	0.50152	D	AEFDBCI	0.460313	0.51055	N	0.315934979267973	0.56967	3.862374	0.360278318778664	0.59129	4.08827	0.999999071813254	0.74766	0.634777	0.41761	0	0.572659	0.20510	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.71	4.83	0.61880	3.611000	0.53881	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.340000	0.25432	0.0812:0.0:0.9188:0.0	12.493	0.55251	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	396.43	34	chr2	131046047	.	G	A	396.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.831;SOR=0.479	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,859	9	0	1	0
chr2	131252927	131252927	T	G	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.T1606G:p.F536V	.	416	1071	35	0	0	35	0.0160772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0064	.	0.0161	0.0489	0.0163	0	0.0064	0.0126	0.0368	0.0107	0.0020828	322	154602	rs201546189	0.0023	0.0033	0.0021	0.0025	0.0228	0.0022	0.0022	0.0195	0.0182	0.0161	0.0028	0.0089	0	0.0011	0.0228	0.0017	0.0037	0.0023	0.0061	0.0084	0.0063	0.0059	0.0151	0.0058	0.0056	0.0141	0.0137	0.0151	0	0.0041	0.0099	0	0.0005	0.0241	0.0026	0.0043	0.0025	0.001	0.78490	D	0.087	0.40747	T	0.462	0.36386	P	0.307	0.41295	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.08	0.77078	T	-0.13	0.08971	N	0.3	0.33904	-0.9083	0.47061	T	0.153	0.48257	T	8	0.0038359165	0.00072	T	.	.	.	0.124	0.34239	.	.	0.191931220699	0.18833	0.003083568723920587	0.00287	.	.	0.595366954803	0.52251	T	0.015359	0.12902	T	-0.49042	0.00646	T	-0.461635	0.26420	T	0.0164105266737759	0.00408	T	0.253475	0.03884	T	0.11846394	0.27910	0.19530182	0.43200	0.11846394	0.27910	0.19530182	0.43199	-2.083	0.03512	T	.	.	0.089	0.12371	B	.	.	1.280274	0.16797	12.77	0.7072585159487782	0.09390	0.00468	0.02246	N	AEI	0.026109	0.01904	N	-1.10895542048966	0.06483	0.2985627	-1.27945934883257	0.04709	0.2227442	1.83194705707854E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.348	-0.696	0.10719	0.866000	0.27608	.	.	0.488000	0.22294	0.005000	0.17040	0.000000	0.08366	0.010000	0.09038	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027778	0.013889	0.032303	0.066372	0.000000	0.053571	0.015038	0.008000	0.05	969.43	33	chr2	131252927	.	T	G	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=610;ExcessHet=0;FS=6.672;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.26;MQRankSum=-0.902;QD=3.22;ReadPosRankSum=0.466;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	131252997	131252997	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon16:c.G1676A:p.G559D	.	423	1095	2	0	2	4	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0686340242042	.	.	2.015e-05	0	0	0	0.0005	0	0	0	6.5e-06	1	154602	rs201809555	2.463e-05	2.531e-05	2.996e-05	1.926e-05	0.0004	1.804e-05	1.601e-05	6.257e-05	2.582e-05	0	0	0	0	1.872e-05	0.0004	2.428e-05	4.972e-05	3.48e-05	1.32e-05	1.315e-05	1.29e-05	1.352e-05	6.556e-05	2.19e-06	8.2e-07	.	.	0	0	6.556e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.173	0.30143	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.83	0.20963	L	-1.93	0.84842	D	-0.11	0.08653	N	0.081	0.05670	-0.8797	0.49786	T	0.306	0.67649	T	8	0.03947276	0.02440	T	0.068634	0.70505	D	0.157	0.40909	0.222	0.14518	0.171388866994	0.16791	0.0019335634069241809	0.00179	.	.	0.586339116096	0.50978	T	0.016866	0.13857	T	-0.29152	0.09484	T	-0.475614	0.24913	T	0.0450959080890132	0.04619	T	0.59724	0.23473	T	0.16037226	0.35973	0.19828093	0.43652	0.16037226	0.35973	0.19828093	0.43651	-7.328	0.56394	T	.	.	0.126	0.26545	B	.;.	.;.	0.864572	0.12371	8.909	0.95113844527397207	0.26204	0.00068	0.00484	N	AEFI	0.020858	0.00867	N	-1.65962233654192	0.00995	0.04314064	-1.78405808933216	0.00811	0.0362249	9.00505683457145E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-1.175000	0.03211	.	.	-1.385000	0.01156	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1003.43	33	chr2	131252997	.	G	A	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=556;ExcessHet=0;FS=3.307;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.84;MQRankSum=-3.141;QD=4.2;ReadPosRankSum=1.17;SOR=0.545	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	131264142	131264142	G	A	exonic	POTEE	.	nonsynonymous SNV	POTEE:NM_001083538:exon18:c.G2687A:p.R896H	.	1	1512	8	0	1	9	0.00263852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0643642992396	.	.	1.698e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs780394961	2.052e-06	1.779e-05	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	2.519e-05	0	0.0002	8.993e-07	0	0	6.641e-06	0.0006	1.296e-05	0	1.488e-05	0	0	.	.	0	0	0	0	0	0	0	1.488e-05	0	0	0.107	0.29554	T	0.017	0.60337	D	0.84	0.46486	P	0.089	0.29769	B	.	.	.	.	1	0.81001	D	3.605	0.93784	H	-3.54	0.94799	D	-3.63	0.69714	D	0.272	0.30800	0.255	0.86826	D	0.756	0.91689	D	8	0.5234951	0.62777	D	0.064364	0.69254	D	0.415	0.72555	0.717	0.85230	0.410603549233	0.40672	0.1142392138303711	0.11351	.	.	0.49760299921	0.38493	T	0.627126	0.88394	D	0.12207	0.66580	D	-0.0624317	0.66162	T	0.647554271321181	0.38358	D	0.779322	0.41328	T	0.072089106	0.16008	0.07193647	0.15463	0.072089106	0.16008	0.07193647	0.15462	-10.788	0.78482	D	.	.	0.185	0.40114	B	.	.	2.588395	0.33574	19.38	0.99638666526857933	0.76510	0.76673	0.37623	D	AEFI	0.321779	0.42448	N	-0.229497971043787	0.31929	1.795331	-0.465909109590448	0.23099	1.257969	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	6.898000	0.75496	.	.	0.199000	0.17910	1.000000	0.71638	0.000000	0.08366	0.031000	0.13245	8.0E-4:0.0:0.9992:0.0	5.905	0.18235	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001059	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	93.43	117	chr2	131264142	.	G	A	93.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.02;DP=1706;ExcessHet=0;FS=59.925;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.53;MQRankSum=-8.094;QD=0.39;ReadPosRankSum=-4.63;SOR=5.135	GT:AD:DP:GQ:PL	0/0:223,0:223:99:0,120,1800	9	0	1	0
chr2	131479412	131479412	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.G331A:p.G111S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.0233730853374	.	0.000199681	3.295e-05	0	0	0	0	4.495e-05	0	6.057e-05	3.84e-05	1	26028	rs550660894	2.257e-05	2.394e-05	1.633e-05	2.888e-05	2.338e-05	1.61e-05	1.416e-05	1.627e-05	1.382e-05	0	0	0	0	3.744e-05	0	2.338e-05	6.623e-05	1.159e-05	1.314e-05	1.312e-05	1.285e-05	1.343e-05	6.54e-05	2.18e-06	8.2e-07	.	.	2.408e-05	0	6.54e-05	0	0	0	0	0	0	0	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	0.000258	0.46924	U	0.000000	0.999843	0.49770	D	.	.	.	-0.9	0.74896	T	-3.99	0.73893	D	0.886	0.88466	0.387	0.88906	D	0.640	0.87407	D	10	0.955	0.94899	D	0.023373	0.46327	T	0.724	0.90280	0.905	0.97985	0.724653821087	0.72221	0.822541271996852	0.82211	.	.	0.681787848473	0.64525	T	.	.	.	0.120091	0.66381	D	0.0315807	0.72380	D	0.977794110774994	0.72014	D	.	.	.	0.11752019	0.27703	0.2815484	0.54138	0.11752019	0.27703	0.2815484	0.54137	-13.315	0.90619	D	.	.	0.986	0.92429	P	.	.	4.526877	0.71028	25.6	0.99593836452818041	0.73748	0.84625	0.43709	D	AEFGCIJ	0.794811	0.72241	D	0.602562060059028	0.73336	5.949582	0.405563888440917	0.61912	4.398021	0.999425180633177	0.39630	0.581397	0.33459	0	0.588066	0.40923	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	2.24	2.24	0.27264	8.542000	0.90453	.	.	0.481000	0.22134	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	2731.43	39	chr2	131479412	.	G	A	2731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.923;DP=847;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.43;MQRankSum=1.83;QD=11.1;ReadPosRankSum=1.61;SOR=0.609	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr2	131479422	131479422	T	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon3:c.T341A:p.I114N	.	420	1099	3	0	0	3	0.00136302	.	.	.	707721	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.424	.	.	.	0.0048	0.0514	0.0026	0	0	0.0003	0.0055	6.058e-05	0.0038421	594	154602	rs148497877	0.0002	0.0012	0.0002	0.0001	0.0053	0.0001	0.0001	0.0046	0.0044	0.0053	0.0002	0	0	0	0.0003	8.994e-06	0.0005	2.319e-05	0.0014	0.0055	0.0013	0.0015	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.022	0.57587	D	.	.	.	.	.	.	0.000287	0.46274	U	0.000000	0.999585	0.47691	D	.	.	.	-0.51	0.70597	T	-3.86	0.72471	D	0.97	0.98065	-0.4281	0.71128	T	0.336	0.70273	T	10	0.013592124	0.00288	T	.	.	.	0.424	0.73226	.	.	0.559044820595	0.55565	0.8252579665916356	0.82483	.	.	0.658026874065	0.61127	T	.	.	.	-0.294385	0.09201	T	-0.182667	0.56277	T	0.0711726129563591	0.08814	T	.	.	.	0.24902523	0.47894	0.29107398	0.55132	0.24902523	0.47894	0.29107398	0.55131	-11.878	0.84251	D	.	.	0.582	0.68135	P	.	.	4.190803	0.63158	24.5	0.96044983805579476	0.28544	0.79371	0.39318	D	AEFGCI	0.742309	0.68597	D	-0.09263090310879	0.37716	2.198237	-0.0865132355096149	0.35948	2.085853	0.978561469127381	0.29935	0.581397	0.33459	0	0.588066	0.40923	0	0.602189	0.34648	0	0.622129	0.49086	0	.	.	2.24	2.24	0.27264	6.887000	0.75425	.	.	0.475000	0.22001	1.000000	0.71638	0.999000	0.35428	0.962000	0.52141	0.0:0.0:0.0:1.0	8.038	0.29662	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008466	0.005051	0.020380	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	528.43	39	chr2	131479422	.	T	A	528.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.476;DP=672;ExcessHet=0;FS=1.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.08;MQRankSum=-7.03;QD=1.6;ReadPosRankSum=-0.175;SOR=0.805	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.1	123.64	212	chr2	131480177	.	G	A	123.64	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7.34;DP=1281;ExcessHet=0.2348;FS=55.935;InbreedingCoeff=-0.129;MLEAC=2;MLEAF=0.1;MQ=53.04;MQRankSum=-7.4;QD=0.31;ReadPosRankSum=-1.58;SOR=4.009	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	8	0	2	0
chr2	132646184	132646184	A	G	exonic	LYPD1	.	nonsynonymous SNV	LYPD1:NM_001077427:exon3:c.T131C:p.V44A,LYPD1:NM_001321235:exon3:c.T131C:p.V44A,LYPD1:NM_144586:exon3:c.T287C:p.V96A,LYPD1:NM_001321234:exon4:c.T335C:p.V112A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.201195480046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.99	0.78936	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-2.17	0.86624	D	-2.97	0.74051	D	0.922	0.92550	0.468	0.90092	D	0.653	0.87904	D	10	0.8475607	0.83925	D	0.201195	0.86751	D	0.834	0.94765	0.482	0.56302	0.878493223263	0.87730	0.7594761862045467	0.75895	1.25994781817	0.82000	0.884913623333	0.94612	D	0.643684	0.89103	D	0.438832	0.91966	D	0.392576	0.91867	D	0.983285248279572	0.75008	D	0.909409	0.67928	D	0.5990098	0.72638	0.61232555	0.77444	0.5990098	0.72639	0.61232555	0.77445	-10.649	0.77699	D	.	.	0.942	0.86098	P	.;.	.;.	5.224863	0.87693	29.3	0.99877413482036659	0.95410	0.97981	0.78612	D	ALL	0.906710	0.85983	D	0.661399810423076	0.77107	6.611734	0.706029577378497	0.82835	7.867065	0.99999999908923	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.459711	0.06710	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.067000	0.93375	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.753	0.77765	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3044.43	33	chr2	132646184	.	A	G	3044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.252;DP=446;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=-0.372;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1055:.	9	0	1	0
chr2	132646185	132646185	C	A	exonic	LYPD1	.	nonsynonymous SNV	LYPD1:NM_001077427:exon3:c.G130T:p.V44F,LYPD1:NM_001321235:exon3:c.G130T:p.V44F,LYPD1:NM_144586:exon3:c.G286T:p.V96F,LYPD1:NM_001321234:exon4:c.G334T:p.V112F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.762	0.190683837251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-2.21	0.86963	D	-3.5	0.82341	D	0.911	0.93135	0.493	0.90455	D	0.673	0.88677	D	10	0.8529622	0.84481	D	0.190684	0.86139	D	0.762	0.91920	0.448	0.50793	0.935691235139	0.93502	0.88621171869313	0.88590	1.3598936142	0.84301	0.863024115562	0.91556	D	0.642109	0.89038	D	0.435298	0.91794	D	0.387499	0.91693	D	0.989488422870636	0.79719	D	0.954105	0.82551	D	0.83959293	0.86579	0.6573595	0.79934	0.83959293	0.86581	0.6573595	0.79935	-14.245	0.93825	D	.	.	0.881	0.81549	P	.;.	.;.	5.389544	0.90296	31	0.99584144269552066	0.73218	0.97598	0.75804	D	ALL	0.920683	0.89303	D	0.683735792856314	0.78567	6.897668	0.728994518895255	0.84581	8.331804	0.999999999999478	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.459711	0.06710	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	7.687000	0.83428	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.571	0.95412	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3044.43	33	chr2	132646185	.	C	A	3044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.235;DP=444;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.72;ReadPosRankSum=0.027;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1055:.	9	0	1	0
chr2	132784614	132784614	T	C	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.A2197G:p.K733E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00361199838757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.08458	T	0.829	0.03728	T	0.018	0.17786	B	0.011	0.15521	B	0.431185	0.12746	U	0.624448	1	0.08975	N	1.7	0.43825	L	1.01	0.41058	T	-0.93	0.24898	N	0.082	0.08646	-1.0207	0.23486	T	0.056	0.23715	T	10	0.04424566	0.03361	T	0.003612	0.08278	T	0.019	0.03383	0.198	0.11110	0.147330786459	0.14319	0.11503444975752376	0.11431	0.0516791353722	0.05686	0.322222530842	0.13757	T	0.005166	0.04603	T	-0.191201	0.22081	T	-0.512424	0.21066	T	0.051692031441021	0.05795	T	0.622938	0.23989	T	0.103632785	0.24496	0.08225675	0.18758	0.103632785	0.24496	0.08225675	0.18758	-4.014	0.24013	T	.	.	0.101	0.17488	B	.;.	.;.	0.433077	0.08032	4.754	0.97276644908955556	0.33163	0.03937	0.09332	N	AEBI	0.057944	0.10835	N	-0.810703354843103	0.13036	0.6394501	-0.747366538738084	0.15786	0.83203	2.77513070548194E-4	0.06300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	2.77	0.31614	0.865000	0.27595	.	.	0.661000	0.55757	0.123000	0.23227	0.001000	0.17328	0.905000	0.44082	0.0:0.2652:0.1661:0.5687	4.311	0.10415	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2118.43	33	chr2	132784614	.	T	C	2118.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=946;ExcessHet=0;FS=2.031;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=1.55;SOR=0.611	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	9	0	1	0
chr2	134254543	134254543	G	A	exonic	MGAT5	.	nonsynonymous SNV	MGAT5:NM_002410:exon1:c.G140A:p.R47H,MGAT5:NM_001371457:exon2:c.G140A:p.R47H	.	433	1088	1	0	0	1	0.000459348	.	.	.	2359162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.460	0.00696360132974	0.0003	.	0.0001	0.0008	8.699e-05	0.0004	0	0	0	6.07e-05	8.41e-05	13	154602	rs141403771	2.736e-05	2.736e-05	2.995e-05	2.475e-05	0.0004	2.062e-05	1.816e-05	0.0002	0.0002	0.0004	8.945e-05	0	5.038e-05	0	0	4.496e-06	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0001	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.008	0.67890	D	0.871	0.47859	P	0.276	0.40142	B	0.000011	0.62929	D	0.111000	0.999834	0.49637	D	1.75	0.45442	L	.	.	.	-1.7	0.40468	N	0.21	0.23380	-0.6058	0.64577	T	0.196	0.54985	T	9	0.13885185	0.26405	T	0.006964	0.18430	T	0.460	0.75755	.	.	0.117191471859	0.11215	0.7107250579092655	0.71014	0.72895118267	0.62636	0.573354482651	0.49151	T	0.494739	0.81776	T	-0.233563	0.16181	T	-0.21579	0.53141	T	0.126232311655328	0.15029	T	0.910809	0.68393	D	0.19557323	0.41351	0.21822406	0.46517	0.19557323	0.41351	0.21822406	0.46516	-5.995	0.46238	T	.	.	0.307	0.53625	B	.;.	.;.	5.159086	0.86435	28.9	0.99944912057795821	0.99886	0.85906	0.45094	D	AEFBCI	0.554698	0.56543	D	0.490328444690513	0.66524	4.961261	0.533009677480155	0.70224	5.473889	0.999999993113198	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	6.901000	0.75513	11.893000	0.99147	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.568	0.91077	912	0.21483	Domain of unknown function DUF4525;Domain of unknown function DUF4525	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5845.14	34	chr2	134254543	.	G	A	5845.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.91;DP=802;ExcessHet=0.2348;FS=3.194;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.587;SOR=0.792	GT:AD:DP:GQ:PL	0/1:122,127:249:99:2999,0,2745	8	0	2	0
chr2	134456738	134456738	C	T	exonic	TMEM163	.	nonsynonymous SNV	TMEM163:NM_030923:exon8:c.G848A:p.R283H	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0154061962065	.	0.000399361	0.0001	0	0	0.0001	0	0.0001	0	0.0003	0.0001035	16	154602	rs200812680	6.431e-05	6.567e-05	4.356e-05	8.527e-05	0.0010	5.362e-05	4.977e-05	0.0005	0.0003	8.961e-05	6.709e-05	0	7.558e-05	0	0.0010	3.957e-05	0.0001	0.0003	5.257e-05	5.251e-05	5.141e-05	5.378e-05	0.0006	2.557e-05	1.83e-05	0.0002	9.047e-05	2.408e-05	0	6.548e-05	0	0	0	0.0068	1.47e-05	0	0.0006	0.006	0.61437	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	0.975	0.24501	L	.	.	.	-1.28	0.32185	N	0.533	0.56145	-0.2275	0.76953	T	0.409	0.75789	T	9	0.20991892	0.37370	T	0.015406	0.36125	T	0.268	0.58254	.	.	0.132336055621	0.12781	0.8350601200674461	0.83466	1.73545229533	0.90791	0.653737306595	0.60516	T	0.038855	0.24988	T	-0.0459423	0.45060	T	0.0123866	0.71137	D	0.608170688152313	0.36726	D	0.919408	0.70943	D	0.25140172	0.48148	0.13980207	0.33345	0.25140172	0.48148	0.13980207	0.33344	-10.37	0.76097	D	.	.	0.152	0.33687	B	.	.	5.405049	0.90499	31	0.99954289376660688	0.99963	0.93697	0.58933	D	AEFDBCI	0.751748	0.69246	D	0.740158216887836	0.82261	7.719565	0.742549091514785	0.85601	8.629034	0.999999999999968	0.74766	0.651	0.46895	0	0.550933	0.16991	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.62	5.62	0.85714	5.995000	0.70302	7.693000	0.65888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:1.0:0.0:0.0	19.235	0.93842	920	0.19381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	2168.43	37	chr2	134456738	.	C	T	2168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.335;DP=486;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.022;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1170	9	0	1	0
chr2	134458122	134458122	G	A	exonic	TMEM163	.	nonsynonymous SNV	TMEM163:NM_030923:exon7:c.C719T:p.A240V	.	.	.	.	.	.	.	.	.	.	.	3616931	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0425562742672	0.0002	0.000199681	7.423e-05	0.0002	8.645e-05	0	0	1.5e-05	0	0.0003	6.47e-05	10	154602	rs376678158	4.583e-05	4.583e-05	2.995e-05	6.188e-05	0.0004	3.661e-05	3.347e-05	0.0003	0.0002	0.0003	0.0001	0	0	0	0	1.439e-05	4.967e-05	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.7e-05	0.0003	0.0002	0.0004	0	0.0003	0	0.0002	0	0	0	0.0005	0.0004	0.04	0.42199	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	-0.09	0.64086	T	-0.72	0.20358	N	0.913	0.91505	-0.3528	0.73472	T	0.380	0.73714	T	10	0.6817863	0.71323	D	0.042556	0.60525	D	0.347	0.66863	.	.	0.802656859518	0.80081	0.8980539682984727	0.89776	0.828887650308	0.67540	0.674577474594	0.63492	T	0.031976	0.22281	T	-0.0791591	0.39850	T	0.0172667	0.71454	D	0.115872740338688	0.14021	T	0.949705	0.80662	D	0.19770782	0.41646	0.18002926	0.40776	0.19770782	0.41645	0.18002926	0.40775	-12.601	0.87655	D	.	.	0.798	0.77199	P	.	.	4.769089	0.77177	26.7	0.99780146979496398	0.86693	0.94407	0.61067	D	AEFDBHCI	0.917766	0.88585	D	0.505540396373447	0.67415	5.078857	0.416801991763211	0.62610	4.479473	1.0	0.98316	0.653281	0.48532	0	0.694456	0.67091	0	0.658983	0.55881	0	0.669	0.65921	0	.	.	4.79	4.79	0.60909	9.968000	0.99102	11.740000	0.95175	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.539000	0.29915	0.0:0.0:1.0:0.0	17.445	0.87468	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1728.43	33	chr2	134458122	.	G	A	1728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.908;DP=504;ExcessHet=0;FS=1.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.077;SOR=0.556	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr2	134981005	134981005	G	A	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon7:c.C3397T:p.R1133W,MAP3K19:NM_001282883:exon7:c.C1132T:p.R378W,MAP3K19:NM_001018046:exon8:c.C1282T:p.R428W,MAP3K19:NM_001018047:exon8:c.C1138T:p.R380W,MAP3K19:NM_025052:exon9:c.C3736T:p.R1246W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0949986449049	7.7e-05	0.000199681	2.471e-05	9.612e-05	8.642e-05	0	0	0	0	6.058e-05	2.59e-05	4	154602	rs139473560	1.094e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	2.995e-05	2.038e-05	0	0	0	5.038e-05	0	0.0002	6.295e-06	0	6.956e-05	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.005	0.63226	D	0.009	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000167	0.48594	D	0.000000	0.964637	0.81001	D	2.725	0.79712	M	-0.25	0.67011	T	-6.02	0.93582	D	0.846	0.84194	-0.3536	0.73449	T	0.404	0.75409	T	10	0.6547211	0.69806	D	0.094999	0.76351	D	0.405	0.71791	.	.	0.629031148641	0.62599	0.7568806216289024	0.75636	0.16846837862	0.18995	0.78183811903	0.79205	T	0.018115	0.14658	T	0.0118748	0.53282	T	-0.0391912	0.67757	D	0.870908677577972	0.52080	D	0.956904	0.83579	D	0.40318635	0.60952	0.2885237	0.54869	0.40318635	0.60953	0.2885237	0.54869	-9.305	0.71802	D	.	.	0.460	0.62713	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.011337	0.59175	24.1	0.99819245918301813	0.90238	0.67460	0.33441	D	AEFBCI	0.619387	0.60484	D	0.121172352352009	0.47451	2.970673	0.0330306689846875	0.41259	2.475786	3.58317855243227E-4	0.06668	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.5	0.113	0.13937	0.906000	0.28140	1.169000	0.24610	-0.193000	0.09282	0.970000	0.34288	0.988000	0.31051	0.991000	0.66497	0.1111:0.0:0.462:0.4269	9.870	0.40334	904	0.23766	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1576.43	35	chr2	134981005	.	G	A	1576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.35;DP=470;ExcessHet=0;FS=3.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.38;SOR=0.568	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1142	9	0	1	0
chr2	134987734	134987734	A	G	exonic	MAP3K19	.	nonsynonymous SNV	MAP3K19:NM_001018044:exon5:c.T799C:p.Y267H,MAP3K19:NM_001321177:exon7:c.T1189C:p.Y397H,MAP3K19:NM_025052:exon7:c.T1138C:p.Y380H	.	427	1047	47	1	0	49	0.0228651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0028	0.00998403	0.0087	0.0006	0.0037	0	0.0012	0.0045	0.0144	0.0416	0.0080594	1246	154602	rs140022497	0.0057	0.0057	0.0044	0.0071	0.0431	0.0056	0.0056	0.0420	0.0415	0.0006	0.0039	0.0036	7.559e-05	0.0011	0.0232	0.0034	0.0063	0.0431	0.0035	0.0035	0.0033	0.0037	0.0327	0.0033	0.0032	0.0286	0.0270	0.0007	0.0011	0.0036	0.0035	0.0006	0.0017	0.0068	0.0035	0.0066	0.0327	0.286	0.17069	T	0.431	0.14679	T	0.003	0.12183	B	0.002	0.10090	B	0.634177	0.05830	N	1.238580	1	0.08975	N	1.445	0.36358	L	-0.42	0.69536	T	-0.97	0.25770	N	0.077	0.05162	-1.0393	0.17526	T	0.104	0.38144	T	10	0.0024988353	0.00038	T	.	.	.	0.019	0.03383	.	.	0.511735687887	0.50815	0.050829714466138445	0.05024	0.14687753787	0.16573	0.226953357458	0.01750	T	0.002246	0.01642	T	-0.573549	0.00211	T	-0.565224	0.15890	T	0.000890545815876997	0.00008	T	0.509849	0.16238	T	0.040088873	0.05657	0.03199676	0.01869	0.040088873	0.05657	0.03199676	0.01869	-3.157	0.13126	T	.	.	0.090	0.24498	B	.;.;.;.	.;.;.;.	-0.279728	0.02708	0.354	0.4493988042106678	0.03491	0.05265	0.11104	N	AEFBI	0.103133	0.20671	N	-1.21234015646499	0.04819	0.2183486	-1.23364004326654	0.05378	0.2560778	6.0288634170171E-4	0.07437	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.87	-0.821	0.10276	-0.684000	0.05275	0.377000	0.17739	-0.587000	0.04669	0.000000	0.06391	0.000000	0.08366	0.419000	0.27206	0.2463:0.4496:0.1853:0.1188	2.434	0.04205	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.005051	0.029891	0.026316	0.000000	0.017241	0.033537	0.015152	0.1	2758.14	33	chr2	134987734	.	A	G	2758.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.86;DP=870;ExcessHet=0.2348;FS=0.475;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.964;SOR=0.654	GT:AD:DP:GQ:PL	0/0:124,0:124:99:0,120,1800	8	0	2	0
chr2	135638906	135638906	G	A	exonic	R3HDM1	.	nonsynonymous SNV	R3HDM1:NM_001282800:exon11:c.G835A:p.D279N,R3HDM1:NM_001282799:exon12:c.G871A:p.D291N,R3HDM1:NM_001282798:exon14:c.G1003A:p.D335N,R3HDM1:NM_001354199:exon14:c.G1003A:p.D335N,R3HDM1:NM_001354200:exon14:c.G1003A:p.D335N,R3HDM1:NM_001378107:exon14:c.G1003A:p.D335N,R3HDM1:NM_015361:exon14:c.G1003A:p.D335N	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0232625170754	.	0.000798722	0.0001	0	0	0	0	3.022e-05	0	0.0007	0.00011	17	154602	rs548719362	6.158e-05	6.156e-05	4.493e-05	7.839e-05	0.0010	5.095e-05	4.716e-05	0.0005	0.0005	0	0	0	2.519e-05	0	0.0010	1.619e-05	9.936e-05	0.0007	6.58e-05	6.566e-05	3.864e-05	9.417e-05	0.0017	3.521e-05	2.62e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.472e-05	0.0005	0.0017	0.014	0.72154	D	0.158	0.36101	T	0.546	0.38028	P	0.156	0.34472	B	0.000282	0.46274	D	0.227068	0.545884	0.49283	D	2.08	0.57402	M	1.39	0.35405	T	-3.08	0.65742	D	0.133	0.17553	-0.4906	0.68987	T	0.275	0.64629	T	10	0.04398939	0.03307	T	0.023263	0.46211	T	0.166	0.42578	0.273	0.22369	0.67667615416	0.67393	0.22419525035368837	0.22334	0.53408203819	0.50830	0.551749944687	0.46105	T	0.237879	0.60566	T	-0.445772	0.01196	T	-0.528666	0.19419	T	0.313217341899872	0.25546	T	0.955704	0.83186	D	0.4270486	0.62559	0.39488363	0.64170	0.4270486	0.62559	0.39488363	0.64170	-9.946	0.79691	D	.	.	0.188	0.41526	B	.;.;.;.;.	.;.;.;.;.	5.105291	0.85319	28.6	0.99889692413916609	0.96436	0.99835	0.99758	D	AEFBI	0.866439	0.78586	D	0.505386202669504	0.67409	5.077629	0.595651674479069	0.74628	6.169427	0.999999859378431	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	7.271000	0.77894	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.279	0.94033	362	0.84826	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1386.43	39	chr2	135638906	.	G	A	1386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.215;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=-0.173;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	9	0	1	0
chr2	135780370	135780370	G	A	exonic	UBXN4	.	nonsynonymous SNV	UBXN4:NM_014607:exon12:c.G1373A:p.S458N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0077866832734	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140973089	0	6.84e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.398	0.15109	T	0.001	0.07471	B	0.002	0.06944	B	0.000003	0.62929	D	0.136523	0.658432	0.33029	D	1.12	0.28775	L	0.8	0.48769	T	0.16	0.05217	N	0.116	0.10483	-0.9344	0.43485	T	0.099	0.36907	T	10	0.0420624	0.02920	T	0.007787	0.20668	T	0.114	0.32008	0.203	0.11797	0.0675242888579	0.06100	0.5234706901296083	0.52271	0.311653327016	0.33471	0.385933190584	0.23095	T	0.022745	0.17484	T	-0.242719	0.15003	T	-0.586425	0.13976	T	0.258777022361755	0.23262	T	0.530647	0.17608	T	0.06982691	0.15331	0.11067004	0.26687	0.06982691	0.15331	0.11067004	0.26686	-5.406	0.40977	T	.	.	0.069	0.02993	B	.	.	2.314524	0.29634	18.18	0.97382931637954973	0.33681	0.63492	0.32106	D	AEFGBI	0.188325	0.31560	N	-0.275674969499948	0.30090	1.674628	-0.118357321585298	0.34649	1.99556	0.137800564911531	0.17215	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	4.15	0.47978	1.335000	0.33444	1.769000	0.28618	0.618000	0.50648	0.987000	0.36337	0.999000	0.35428	0.999000	0.91618	0.2077:0.0:0.7923:0.0	10.279	0.42708	282	0.88846	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	96.14	34	chr2	135780370	.	G	A	96.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.337;DP=409;ExcessHet=0.2348;FS=35.007;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=2.41;SOR=5.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1123:.	8	0	2	0
chr2	135862745	135862745	T	C	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon8:c.A1082G:p.N361S	Lactase persistence/nonpersistence, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	3190530	MCM6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.221	0.0189266988454	0.0033	0.00239617	0.0040	0.0007	0.0023	0	0.0079	0.0054	0.0077	0.0020	0.0039844	616	154602	rs141448886	0.0040	0.0040	0.0039	0.0041	0.0044	0.0039	0.0039	0.0043	0.0042	0.0006	0.0031	0.0026	2.52e-05	0.0073	0.0028	0.0044	0.0034	0.0021	0.0041	0.0041	0.0038	0.0044	0.0059	0.0039	0.0038	0.0054	0.0053	0.0007	0	0.0056	0.0017	0.0012	0.0078	0.0034	0.0059	0.0038	0.0014	0.091	0.31834	T	0.093	0.39799	T	0.399	0.34817	B	0.34	0.42389	B	0.000001	0.84330	D	0.094910	1	0.81001	D	2.075	0.57047	M	2.8	0.11082	T	-3.64	0.69835	D	0.84	0.83576	-1.0820	0.06965	T	0.026	0.11087	T	10	0.015757978	0.00331	T	0.018927	0.41149	T	0.221	0.51721	.	.	0.544542761504	0.54108	0.6342726675289722	0.63361	0.252035714824	0.27772	0.830317974091	0.86611	D	0.291595	0.66435	T	-0.486928	0.00676	T	-0.465534	0.25999	T	0.0777835342466719	0.09701	T	0.967203	0.88094	D	0.488018	0.66385	0.29138008	0.55163	0.488018	0.66385	0.29138008	0.55162	-5.056	0.37442	T	.	.	0.057	0.00514	B	.	.	4.358300	0.66997	25.0	0.99863391011260749	0.94184	0.98968	0.89315	D	AEFBI	0.852214	0.76911	D	0.254597779633626	0.53867	3.553861	0.375096730290756	0.60035	4.186656	0.999999999666595	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.566000	0.81367	4.945000	0.46240	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.208	0.72886	219	0.91485	MCM domain|MCM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.002717	0.002924	0.000000	0.000000	0.003067	0.003788	0.05	1796.43	34	chr2	135862745	.	T	C	1796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.461;DP=431;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=-0.189;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	9	0	1	0
chr2	137056711	137056711	G	T	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon3:c.G431T:p.R144L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0293832748762	0.0002	0.000998403	0.0009	0	0	0	0	0.0003	0.0022	0.0053	0.0007956	123	154602	rs147127072	0.0005	0.0005	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	0	0.0001	3.826e-05	0	3.745e-05	0.0014	0.0002	0.0008	0.0047	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.407e-05	0	0	0	0	0	0	8.82e-05	0	0.0046	0.658	0.04772	T	0.456	0.13403	T	0.474	0.36620	P	0.22	0.37792	B	0.065785	0.21855	N	0.563993	0.998226	0.22281	N	.	.	.	0.24	0.59583	T	-1.49	0.36385	N	0.266	0.42247	-0.8758	0.50090	T	0.114	0.40627	T	10	0.012000591	0.00260	T	0.029383	0.51906	D	0.164	0.42212	.	.	0.130388298395	0.12655	0.5454276543799753	0.54468	0.599866105322	0.55088	0.229598790407	0.01938	T	0.029984	0.23505	T	-0.435596	0.01373	T	-0.396837	0.33751	T	0.0232207487730708	0.01050	T	0.582642	0.29103	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.28027	B	.;.;.	.;.;.	0.169364	0.05586	2.041	0.95669300730307494	0.27511	0.12580	0.17355	N	AEFDCI	0.138269	0.25951	N	-0.933410484128226	0.10068	0.4793741	-1.00026396637233	0.09780	0.4885643	3.10374162427468E-5	0.03498	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.503917	0.08554	0	.	.	6.07	-4.4	0.03349	-0.165000	0.09957	-1.048000	0.06492	-0.272000	0.06708	0.003000	0.16062	0.000000	0.08366	0.918000	0.45347	0.635:0.0947:0.2703:0.0	11.541	0.49920	901	0.24189	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3421.43	33	chr2	137056711	.	G	T	3421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=715;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-0.495;SOR=0.596	GT:AD:DP:GQ:PL	0/0:175,0:175:99:0,120,1800	9	0	1	0
chr2	137656861	137656861	A	C	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon23:c.A4171C:p.S1391R	.	434	1087	1	0	0	1	0.00045977	.	.	.	3913669	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.179	0.0155072759586	.	.	0.0001	0	0	0	0	3e-05	0	0.0008	9.7e-05	15	154602	rs766970685	6.431e-05	6.43e-05	4.084e-05	8.802e-05	0.0008	5.362e-05	4.977e-05	0.0006	0.0006	0	6.708e-05	0	0	0	0.0002	1.619e-05	8.282e-05	0.0008	1.971e-05	1.97e-05	0	4.035e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.093	0.31532	T	0.162	0.32568	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999946	0.81001	D	.	.	.	2.46	0.14907	T	-1.9	0.44284	N	0.785	0.84505	-1.0919	0.05223	T	0.072	0.29387	T	10	0.44337058	0.58242	T	0.015507	0.36282	T	0.179	0.44899	.	.	0.503063991398	0.49945	0.6937141672519127	0.69312	0.155593762217	0.17559	0.484709113836	0.36705	T	0.014823	0.12548	T	-0.119652	0.33182	T	-0.0134702	0.69458	D	0.265021175146103	0.23533	T	0.873013	0.58243	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.644	0.70694	P	.;.;.	.;.;.	3.730126	0.53349	23.4	0.99327485184767239	0.59622	0.97091	0.72637	D	AEFI	0.841839	0.75900	D	0.470314372094076	0.65363	4.81324	0.550005604975915	0.71399	5.648737	0.00739471562831118	0.11456	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	5.982000	0.70215	9.359000	0.80360	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9315:0.0:0.0685:0.0	11.051	0.47107	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1551.43	35	chr2	137656861	.	A	C	1551.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.975;DP=424;ExcessHet=0;FS=0.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.09;SOR=0.614	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1211	9	0	1	0
chr2	137663518	137663518	G	A	exonic	THSD7B	.	nonsynonymous SNV	THSD7B:NM_001316349:exon26:c.G4594A:p.V1532M	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00526817969914	.	0.000199681	0.0004	0	0	0	0	0	0.0035	0.0022	0.0002005	31	154602	rs571404522	0.0001	0.0001	5.597e-05	0.0002	0.0019	9.844e-05	9.258e-05	0.0016	0.0016	0	0	0	0	0	0	0	6.641e-05	0.0019	9.849e-05	9.843e-05	2.569e-05	0.0002	0.0031	6.002e-05	4.876e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.085	0.32769	T	0.103	0.38305	T	.	.	.	.	.	.	0.006197	0.32207	N	0.328023	0.919821	0.27319	N	.	.	.	2.36	0.16089	T	-0.52	0.16187	N	0.189	0.22486	-1.1159	0.02608	T	0.071	0.28904	T	10	0.011755884	0.00256	T	0.005268	0.13464	T	0.151	0.39764	.	.	0.445711490874	0.44190	0.2717668069209804	0.27089	0.138909275846	0.15665	0.478206723928	0.35809	T	0.019616	0.15597	T	-0.448569	0.01152	T	-0.423591	0.30665	T	0.145036857989048	0.16701	T	0.737326	0.35372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31100	B	.;.;.	.;.;.	3.326903	0.45779	22.2	0.99781261104003049	0.86780	0.93323	0.57910	D	AEFI	.	.	.	0.217313461785539	0.52039	3.380629	0.274821124261005	0.54072	3.573506	0.00377180938983097	0.10274	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.01	5.1	0.68917	3.461000	0.52800	6.638000	0.56174	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0758:0.1355:0.7887:0.0	9.938	0.40733	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	1517.43	38	chr2	137663518	.	G	A	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.616;DP=516;ExcessHet=0;FS=2.071;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.125;SOR=0.522	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr2	140487655	140487655	G	A	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon58:c.C9205T:p.R3069C	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.0516909741558	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs747167577	6.184e-06	6.157e-06	4.103e-06	8.283e-06	3.496e-05	2.91e-06	2.11e-06	9.29e-06	4.58e-06	0	0	0	0	0	0	3.609e-06	3.33e-05	3.496e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.011	0.64786	D	0.999	0.77913	D	0.828	0.59497	P	0.000033	0.55875	U	0.068650	0.999146	0.46174	D	1.335	0.33326	L	-3.92	0.96078	D	-0.89	0.24026	N	0.479	0.51405	0.880	0.95401	D	0.867	0.95570	D	10	0.30924734	0.48413	T	0.051691	0.64767	D	0.621	0.85301	0.603	0.73466	0.28494636882	0.28116	0.6870152750793054	0.68641	0.799004479911	0.66158	0.729275524616	0.71400	T	0.170863	0.51876	T	0.0780011	0.61807	D	0.0564136	0.74007	D	0.902916133403778	0.55599	D	0.935106	0.75644	D	0.12319885	0.28933	0.11446054	0.27629	0.12319885	0.28933	0.11446054	0.27629	-11.783	0.83777	D	.	.	0.333	0.55431	B	.	.	4.861115	0.79544	27.1	0.99910074506484636	0.97949	0.93906	0.59534	D	AEFI	0.635325	0.61488	D	0.62991183464055	0.75073	6.242258	0.644065036817474	0.78168	6.822592	3.03551730925923E-4	0.06454	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	4.84	0.62125	3.910000	0.56084	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.7863:0.2137	15.517	0.75562	955	0.09969	Domain of unknown function DUF5050	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	467.43	34	chr2	140487655	.	G	A	467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.506;DP=360;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-1.607;SOR=1.011	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	9	0	1	0
chr2	140994107	140994107	T	C	exonic	LRP1B	.	nonsynonymous SNV	LRP1B:NM_018557:exon16:c.A2532G:p.I844M	.	427	1063	30	2	0	34	0.0157407	.	.	.	697039	LRP1B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0028	0.0117812	0.0063	0.0007	0.0021	0.0001	0	0.0024	0.0077	0.0341	0.0058343	902	154602	rs147402550	0.0049	0.0049	0.0040	0.0059	0.0345	0.0048	0.0048	0.0335	0.0331	0.0007	0.0016	0.0007	0.0001	0.0001	0.0096	0.0033	0.0054	0.0345	0.0028	0.0028	0.0025	0.0031	0.0371	0.0026	0.0025	0.0327	0.0310	0.0007	0	0.0022	0.0009	0.0002	0	0.0034	0.0026	0.0028	0.0371	0.152	0.24468	T	0.011	0.64786	D	0.001	0.07471	B	0.003	0.08700	B	0.847102	0.07035	N	1.087950	0.999963	0.18878	N	0	0.06538	N	-2.83	0.91249	D	1.04	0.01332	N	0.099	0.08088	-0.7360	0.58658	T	0.362	0.72354	T	10	0.0046260953	0.00096	T	.	.	.	0.195	0.47612	.	.	0.182106788282	0.17826	0.11120296238086644	0.11049	0.231434023854	0.25697	0.361388236284	0.19588	T	0.082083	0.36747	T	-0.453682	0.01074	T	-0.399392	0.33455	T	0.00324615327500798	0.00034	T	0.60284	0.22604	T	0.057276886	0.11379	0.057300694	0.10391	0.057276886	0.11378	0.057300694	0.10391	-3.998	0.23774	T	.	.	0.081	0.08272	B	.	.	0.184167	0.05711	2.158	0.96061534495411727	0.28593	0.04186	0.09688	N	AEFI	0.071648	0.14272	N	-1.18149815456394	0.05280	0.2403164	-1.18537793561606	0.06153	0.2952971	0.00345728987212099	0.10124	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.76	-6.16	0.01919	-0.732000	0.05008	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.909000	0.44452	0.1881:0.173:0.4111:0.2277	2.222	0.03731	558	0.71484	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008056	0.005051	0.002717	0.005848	0.000000	0.017241	0.006098	0.026515	0.05	1811.43	47	chr2	140994107	.	T	C	1811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.62;DP=556;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.203;SOR=0.877	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	9	0	1	0
chr2	142957713	142957713	G	A	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon7:c.G580A:p.E194K,KYNU:NM_003937:exon7:c.G580A:p.E194K,KYNU:NM_001199241:exon8:c.G580A:p.E194K	.	427	1094	1	0	0	1	0.00045683	0.1495	0.23	.	3455983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0216654390971	.	.	0.0001	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs375714486	5.272e-05	5.544e-05	3.369e-05	7.181e-05	0.0008	4.307e-05	3.929e-05	0.0007	0.0006	0	0	0	0	0	0.0002	0	6.781e-05	0.0008	1.972e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.121	0.27783	T	0.352	0.23164	T	0.002	0.09854	B	0.023	0.19966	B	0.004896	0.33292	N	0.290052	0.99572	0.42826	D	0.66	0.16226	N	-2.16	0.86549	D	-0.93	0.29727	N	0.234	0.26475	-0.4674	0.69816	T	0.414	0.76170	T	10	0.091902435	0.16139	T	0.021665	0.44469	T	0.189	0.46613	0.437	0.48993	0.870298681331	0.86903	0.6432807418445249	0.64263	0.039138884069	0.04164	0.387368679047	0.23299	T	0.361846	0.72786	T	-0.303887	0.08298	T	-0.291073	0.45662	T	0.0517077828878968	0.05798	T	0.963804	0.86607	D	0.17753938	0.38725	0.1876245	0.42006	0.17753938	0.38725	0.1876245	0.42005	-7.014	0.54136	T	0.15384262994865694	0.18330	0.078	0.10062	B	.;.;.;.	.;.;.;.	2.500402	0.32279	18.99	0.99538330840768785	0.70336	0.85050	0.44152	D	AEFGBI	0.484277	0.52436	N	-0.149638791470159	0.35250	2.022338	0.0347988856841131	0.41342	2.48225	0.829036885601217	0.24659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.24	4.33	0.51083	1.531000	0.35624	1.144000	0.24428	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1433:0.2738:0.5829:0.0	6.994	0.23949	918	0.19598	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	715.43	36	chr2	142957713	.	G	A	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.906;DP=398;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.368;SOR=0.763	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr2	142960678	142960678	G	C	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.G637C:p.D213H,KYNU:NM_003937:exon8:c.G637C:p.D213H,KYNU:NM_001199241:exon9:c.G637C:p.D213H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0146019064306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.44029	T	0.028	0.54934	D	0.025	0.19245	B	0.034	0.22546	B	0.000498	0.43931	D	0.260668	0.999998	0.58761	D	2.14	0.59869	M	0.44	0.56609	T	-4.62	0.81431	D	0.522	0.55713	-0.4414	0.70683	T	0.335	0.70166	T	10	0.5629133	0.64889	D	0.014602	0.34823	T	0.184	0.45763	0.411	0.44723	0.861392150857	0.86005	0.7965275537880769	0.79605	0.0950718801951	0.10730	0.50801217556	0.39944	T	0.636928	0.88818	D	-0.00327238	0.51204	T	-0.242477	0.50558	T	0.974040567874908	0.70344	D	0.89611	0.66687	D	0.39649847	0.60489	0.39619872	0.64267	0.39649847	0.60490	0.39619872	0.64267	-9.378	0.73160	D	0.40336162957113375	0.49482	0.186	0.47997	B	.;.;.;.	.;.;.;.	3.586120	0.50577	23.0	0.99065854293338607	0.51598	0.97781	0.77086	D	AEFBI	0.896780	0.83822	D	0.496253117918684	0.66870	5.006543	0.558985198089472	0.72026	5.745163	0.999999999307194	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	7.135000	0.76878	8.593000	0.77695	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.079	0.93156	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	38.86	34	chr2	142960678	.	G	C	38.86	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.692;DP=565;ExcessHet=0;FS=78.072;InbreedingCoeff=-0.1197;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.125;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:85:.:.:0,85,1326:.	7	0	1	2
chr2	142960681	142960681	T	C	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.T640C:p.S214P,KYNU:NM_003937:exon8:c.T640C:p.S214P,KYNU:NM_001199241:exon9:c.T640C:p.S214P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0335923142122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	5.28e-05	1.379e-06	2.78e-06	2.736e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.736e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.54683	T	0.085	0.63109	T	0.89	0.48942	P	0.819	0.59018	P	0.000196	0.48115	D	0.187417	1.000	0.48408	D	3.135	0.88152	M	0.54	0.54911	T	-3.33	0.68412	D	0.66	0.68255	-0.1945	0.77813	T	0.379	0.73602	T	10	0.7908241	0.78645	D	0.033592	0.55087	D	0.347	0.66863	0.495	0.58363	0.881554856286	0.88039	0.9049168597205036	0.90464	0.252831717914	0.27850	0.555888175964	0.46686	T	0.581067	0.86282	D	0.255126	0.79078	D	0.128694	0.78806	D	0.952440440654755	0.63793	D	0.935506	0.75876	D	0.9481054	0.96073	0.9145612	0.96013	0.9481054	0.96073	0.9145612	0.96013	-16.525	0.98447	D	0.7344959636752221	0.81630	0.734	0.77428	P	.;.;.;.	.;.;.;.	3.884118	0.56469	23.7	0.99861853130622813	0.94002	0.94682	0.61969	D	AEFBI	0.899899	0.84481	D	0.666313654930527	0.77428	6.672807	0.618650898546556	0.76293	6.46467	0.999999570512101	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	4.311000	0.58940	4.974000	0.46419	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.727000	0.35000	0.0:0.0:0.0:1.0	15.337	0.73975	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	31.43	102	chr2	142960681	.	T	C	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.364;DP=562;ExcessHet=0;FS=133.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.282;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1165:.	9	0	1	0
chr2	144011798	144011798	C	A	exonic	GTDC1	.	stopgain	GTDC1:NM_001376306:exon7:c.G538T:p.G180X,GTDC1:NM_001376317:exon7:c.G538T:p.G180X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	41.31	.	chr2	144011798	.	C	A	41.31	.	AC=2;AF=0.333;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=20.66;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	7
chr2	147952460	147952460	A	C	exonic	ORC4	.	nonsynonymous SNV	ORC4:NM_001190881:exon5:c.T249G:p.H83Q,ORC4:NM_001190882:exon7:c.T279G:p.H93Q,ORC4:NM_002552:exon8:c.T501G:p.H167Q,ORC4:NM_181741:exon8:c.T501G:p.H167Q,ORC4:NM_181742:exon8:c.T501G:p.H167Q,ORC4:NM_001190879:exon9:c.T501G:p.H167Q,ORC4:NM_001374272:exon9:c.T249G:p.H83Q,ORC4:NM_001374270:exon10:c.T501G:p.H167Q	Meier-Gorlin syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.158635835134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.841e-07	1.364e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.032	0.53426	D	0.037	0.20876	B	0.147	0.34014	B	0.000001	0.84330	N	0.096295	0.999268	0.81001	D	2.505	0.72935	M	-3.04	0.92357	D	-6.87	0.93175	D	0.349	0.39861	-0.2499	0.76362	T	0.610	0.86187	D	10	0.34211516	0.51248	T	0.158636	0.83899	D	0.152	0.39956	0.404	0.43573	0.924435120398	0.92367	0.5339902043326814	0.53324	0.326412114761	0.34790	0.579629421234	0.50034	T	0.166067	0.51215	T	0.0448615	0.57680	T	-0.173336	0.57138	T	0.884059488773346	0.53427	D	0.794321	0.44511	T	0.74107856	0.80354	0.5248352	0.72547	0.74107856	0.80356	0.5248352	0.72547	-8.183	0.63324	D	0.601928977617784	0.66900	0.353	0.56767	A	.;.;.;.;.	.;.;.;.;.	3.298200	0.45264	22.1	0.95968306843252982	0.28320	0.84634	0.43718	D	AEBCI	0.358904	0.44942	N	-0.353789333699048	0.27132	1.486234	-0.211953562680255	0.31105	1.757323	2.84094382655772E-4	0.06355	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	3.46	0.38718	2.514000	0.45164	2.869000	0.35254	-0.122000	0.13826	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.6236:0.1515:0.2249:0.0	5.176	0.14460	913	0.21160	.;AAA+ ATPase domain;.;AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.2	34	chr2	147952460	.	A	C	46.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.138;DP=370;ExcessHet=0.2348;FS=114.678;InbreedingCoeff=-0.1141;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=-0.125;SOR=6.932	GT:AD:DP:GQ:PL	0/0:25,0:25:36:0,36,571	8	0	2	0
chr2	148470197	148470197	A	G	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon8:c.A2254G:p.I752V,MBD5:NM_018328:exon9:c.A2254G:p.I752V	Mental retardation, autosomal dominant 1, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	365624	MBD5-related_disorder|not_provided|Inborn_genetic_diseases|Intellectual_disability,_autosomal_dominant_1	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	0.00236703355941	0.0005	.	0.0004	0	0.0004	0	0.0002	0.0005	0	0.0002	0.0003363	52	154602	rs147455836	0.0003	0.0003	0.0003	0.0003	0.0033	0.0003	0.0003	0.0022	0.0018	2.988e-05	0.0003	0.0004	0.0003	0.0001	0.0033	0.0003	0.0006	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0004	4.809e-05	0	0.0008	0.0006	0	0.0003	0	0.0006	0.0005	0.0002	0.039	0.47320	D	0.582	0.16280	T	0.0	0.12996	B	0.0	0.06944	B	0.000317	0.45977	D	0.097072	0.995565	0.23258	N	0.345	0.11182	N	1.02	0.41058	T	-0.38	0.13418	N	0.193	0.24634	-1.0838	0.06628	T	0.044	0.19029	T	10	0.046809852	0.03919	T	0.002367	0.04618	T	0.080	0.23350	.	.	0.128874641272	0.12493	0.2543113046449451	0.25345	0.150950531144	0.17036	0.51235294342	0.40550	T	0.039994	0.25379	T	-0.45526	0.01051	T	-0.518275	0.20469	T	0.0265196337275132	0.01477	T	0.70443	0.35686	T	0.027835634	0.02032	0.036509965	0.03113	0.027835634	0.02031	0.036509965	0.03113	-3.135	0.11703	T	0.12894777943400632	0.13414	0.108	0.20391	B	.;.;.;.;.	.;.;.;.;.	2.064462	0.26254	17.05	0.95448442889327412	0.26964	0.82901	0.42068	D	AEFDBI	0.203018	0.32956	N	-0.423276997439156	0.24655	1.332824	-0.244425973962412	0.29964	1.683076	0.798658967154758	0.24146	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.96	2.41	0.28644	1.403000	0.34220	1.948000	0.29869	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.5152:0.1363:0.0889:0.2596	1.494	0.02314	600	0.68026	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	1529.43	35	chr2	148470197	.	A	G	1529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.621;DP=427;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=1.27;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,962	9	0	1	0
chr2	151592093	151592093	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon95:c.G14767A:p.V4923M,NEB:NM_001164508:exon95:c.G14767A:p.V4923M,NEB:NM_001271208:exon95:c.G14767A:p.V4923M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	72	1448	2	0	0	2	0.000690131	.	.	.	2408118	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00931681802712	0.0004	0.000599042	0.0002	0.0019	0	0	0	0	0	0	4.53e-05	7	154602	rs371004065	5.654e-05	8.003e-05	5.791e-05	5.515e-05	0.0009	4.614e-05	4.271e-05	0.0006	0.0005	0.0009	2.802e-05	0	5.597e-05	0	0.0002	3.245e-05	0.0002	5.054e-05	0.0005	0.0006	0.0004	0.0005	0.0013	0.0004	0.0004	0.0010	0.0009	0.0013	0	0.0010	0	0	0	0	4.409e-05	0	0	0.029	0.45756	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	3.29	0.06445	T	-0.19	0.09965	N	0.172	0.18512	-0.9466	0.41549	T	0.018	0.07234	T	7	0.021748364	0.00527	T	0.009317	0.24459	T	0.019	0.03383	.	.	0.229264304666	0.22521	0.005961659842614152	0.00565	0.324208047398	0.34584	.	.	.	0.010037	0.09096	T	-0.544975	0.00313	T	-0.677864	0.07115	T	0.0610592724011454	0.07335	T	0.340666	0.07588	T	.	.	.	.	.	.	.	.	-10.626	0.77568	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	1.077318	0.14602	11.16	0.70906129435366072	0.09450	0.03574	0.08788	N	AEFBCI	0.036392	0.04843	N	-0.63088768965369	0.18021	0.9322741	-0.777459131280878	0.15048	0.7894695	0.00201316038908668	0.09087	0.581397	0.33459	0	0.61073	0.52368	0	0.685742	0.62368	0	0.622129	0.49086	0	.	.	2.65	0.753	0.17552	-0.695000	0.05211	.	.	-0.323000	0.05837	0.000000	0.06391	0.006000	0.19429	0.521000	0.29498	0.0:0.7453:0.0:0.2547	7.006	0.24014	903	0.23940	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005660	0.008475	0.000000	0.016949	0.000000	0.000000	0.000000	0.000000	0.05	952.43	34	chr2	151592093	.	C	T	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.6;DP=577;ExcessHet=0;FS=5.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.27;MQRankSum=-7.229;QD=3.57;ReadPosRankSum=-1.161;SOR=1.086	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	9	0	1	0
chr2	151602646	151602646	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon87:c.G13309A:p.V4437M,NEB:NM_001164508:exon87:c.G13309A:p.V4437M,NEB:NM_001271208:exon87:c.G13309A:p.V4437M	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0106536536769	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1335467972	0	2.156e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.633e-05	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	0.069	0.35537	T	0.063	0.45110	T	.	.	.	.	.	.	.	.	.	.	1	0.21065	N	.	.	.	3.19	0.07353	T	-0.49	0.15578	N	0.219	0.24510	-0.9523	0.40573	T	0.019	0.07846	T	7	0.11761981	0.22217	T	0.010654	0.27430	T	0.010	0.01040	0.325	0.30711	0.167679373172	0.16340	0.0038656120000573977	0.00362	0.324208047398	0.34584	.	.	.	0.015075	0.12713	T	-0.294591	0.09179	T	-0.660936	0.08203	T	0.160811328283078	0.17931	T	0.416558	0.10945	T	.	.	.	.	.	.	.	.	-8.021	0.61213	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	1.677249	0.21378	15.17	0.56847788574136682	0.05641	0.01192	0.04260	N	AEFI	0.024494	0.01526	N	-0.657017165168692	0.17257	0.8864123	-0.768222665527684	0.15275	0.8025638	0.00176877846835635	0.08861	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	3.51	-0.168	0.12689	-0.481000	0.06631	.	.	0.297000	0.18867	0.000000	0.06391	0.014000	0.20376	0.569000	0.30626	0.0:0.6085:0.0:0.3914	7.705	0.27812	911	0.21964	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	89.62	.	chr2	151602646	.	C	T	89.62	.	AC=2;AF=0.333;AN=6;DP=21;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.5;MQ=35.17;QD=22.4;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	7
chr2	151680729	151680729	C	T	splicing	NEB	NM_001164507:exon30:c.3042+1G>A;NM_001271208:exon30:c.3042+1G>A;NM_004543:exon30:c.3042+1G>A;NM_001164508:exon30:c.3042+1G>A	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	939850	Nemaline_myopathy_2	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.936609	0.94117	33	0.99349119721063961	0.60493	0.97623	0.75973	D	AEFBI	.	.	.	1.19148709426811	0.99469	22.96786	1.05788045534202	0.99467	22.95182	0.999998626380482	0.74766	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.989765	0.98485	5.82	5.82	0.92740	5.023000	0.63858	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.870	0.92282	863	0.32847	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	411.49	152	chr2	151680729	.	C	T	411.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.4;DP=854;ExcessHet=0.7463;FS=121.756;InbreedingCoeff=-0.178;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.502;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,15:106:78:0|1:151680729_C_T:78,0,2989:151680729	7	0	3	0
chr2	152542775	152542775	A	G	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon3:c.A238G:p.I80V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0226591904871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.166	0.30828	T	0.026	0.19406	B	0.038	0.23361	B	0.000048	0.53742	D	0.161001	0.999762	0.48888	D	2.125	0.59049	M	-2.2	0.86888	D	-0.76	0.21215	N	0.439	0.47765	-0.2384	0.76668	T	0.512	0.81690	D	10	0.2859226	0.46174	T	0.022659	0.45569	T	0.289	0.60808	0.581	0.70733	0.685350872001	0.68266	0.25489116159309166	0.25403	0.324760781884	0.34632	0.778911232948	0.78764	T	.	.	.	0.052101	0.58613	T	-0.162937	0.58086	T	0.73555850982666	0.42500	D	0.956904	0.83579	D	.	.	.	.	.	.	.	.	-9.809	0.72760	D	.	.	0.164	0.36214	B	.	.	3.677646	0.52329	23.2	0.99494589107806364	0.67630	0.78809	0.38939	D	AEFGBCIJ	0.653196	0.62632	D	0.0232668351802864	0.42914	2.594784	0.227720640856015	0.51392	3.322047	0.999999902535199	0.74766	0.730579	0.87903	0	0.588015	0.36545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	6.02	6.02	0.97559	4.597000	0.60770	9.210000	0.79232	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.527	0.75655	278	0.89047	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2464.43	34	chr2	152542775	.	A	G	2464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.149;DP=511;ExcessHet=0;FS=4.162;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.044;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	9	0	1	0
chr2	152549066	152549066	C	G	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon4:c.C328G:p.L110V	.	435	1064	21	2	0	25	0.0116117	.	.	.	707771	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.847	0.0943620572758	0.0015	0.00139776	0.0021	0.0006	0.0011	0	0.0027	0.0028	0	0.0012	0.0016882	261	154602	rs189416564	0.0017	0.0017	0.0016	0.0017	0.0030	0.0016	0.0016	0.0019	0.0017	0.0002	0.0007	0.0001	0	0.0024	0.0030	0.0018	0.0014	0.0017	0.0016	0.0016	0.0018	0.0014	0.0025	0.0014	0.0014	0.0022	0.0021	0.0004	0	0.0017	0.0003	0	0.0015	0	0.0025	0.0024	0.0012	0.002	0.72154	D	0.003	0.76473	D	0.974	0.57829	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.545	0.93219	H	-3.86	0.95891	D	-2.29	0.50992	N	0.749	0.74826	0.897	0.95634	D	0.922	0.97419	D	10	0.06383386	0.08377	T	0.094362	0.76238	D	0.847	0.95249	.	.	0.894785773462	0.89374	0.6470445445867951	0.64639	0.939401441635	0.72160	0.800921201706	0.82103	T	.	.	.	0.158796	0.70090	D	0.451959	0.93625	D	0.113035874637148	0.13735	T	0.995467	0.98429	D	.	.	.	.	.	.	.	.	-8.341	0.63371	D	.	.	0.567	0.67513	P	.	.	4.217291	0.63767	24.6	0.99862500244582941	0.94093	0.97341	0.74138	D	AEFDGBIJ	0.630492	0.61182	D	0.91462230342868	0.92457	11.43442	0.873322540739809	0.94303	12.65601	1.0	0.98316	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.86	5.86	0.93936	4.487000	0.60022	5.884000	0.50679	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.158	0.98126	262	0.89730	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.005051	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	911.14	34	chr2	152549066	.	C	G	911.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.234;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.65;SOR=0.756	GT:AD:DP:GQ:PL	0/1:26,23:49:99:473,0,591	8	0	2	0
chr2	156327864	156327864	A	T	exonic	NR4A2	.	nonsynonymous SNV	NR4A2:NM_006186:exon5:c.T1145A:p.L382Q,NR4A2:NM_173173:exon5:c.T956A:p.L319Q	.	420	1101	0	1	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0669416947931	7.7e-05	.	2.936e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs145347057	4.884e-06	5.472e-06	4.147e-06	5.633e-06	6.084e-05	2.03e-06	1.31e-06	2.377e-05	1.49e-05	0	0	0	0	0	0	9.117e-07	1.685e-05	6.084e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.76473	D	0.997	0.70673	D	0.921	0.65636	D	0.827292	0.09133	N	0.932411	1	0.81001	D	2.08	0.57402	M	0.62	0.53302	T	-5.29	0.84315	D	0.867	0.95021	-0.6166	0.64130	T	0.331	0.69877	T	10	0.77083075	0.77069	D	0.066942	0.70022	D	0.417	0.72705	.	.	0.701869943781	0.69928	0.8364887684957731	0.83608	1.13984766701	0.78886	0.803692102432	0.82527	D	0.845253	0.96427	D	0.174906	0.71573	D	0.0134641	0.71206	D	0.995318055152893	0.87204	D	0.972403	0.89999	D	0.9003776	0.91417	0.82592857	0.89920	0.9003776	0.91418	0.82592857	0.89921	-11.615	0.82925	D	.	.	0.878	0.81367	P	.;.;.;.;.	.;.;.;.;.	5.431685	0.90826	31	0.99352837051529219	0.60656	0.97586	0.75724	D	AEFDBCI	0.900872	0.84690	D	0.860385132916469	0.89692	10.07698	0.861257987003779	0.93657	12.18955	0.999999999999991	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.503968	0.08637	0	0.664235	0.64389	0	.	.	6.03	6.03	0.97798	8.958000	0.92950	11.247000	0.90615	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.227	0.82122	770	0.49152	Nuclear hormone receptor, ligand-binding domain;.;Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	360.43	33	chr2	156327864	.	A	T	360.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.471;DP=346;ExcessHet=0;FS=1.169;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.811;SOR=0.46	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	9	0	1	0
chr2	157284448	157284448	G	A	exonic	GALNT5	.	nonsynonymous SNV	GALNT5:NM_014568:exon2:c.G1621A:p.D541N,GALNT5:NM_001329868:exon3:c.G211A:p.D71N	.	.	.	.	.	.	.	.	1.0000	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.450	.	.	.	2.712e-05	0	0	0	0	4.924e-05	0	0	1.94e-05	3	154602	rs772769659	1.643e-05	1.642e-05	1.634e-05	1.651e-05	0.0028	1.111e-05	9.34e-06	0.0017	0.0014	0	2.24e-05	0	0	0	0.0028	4.498e-06	0	2.323e-05	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.009	0.57480	D	0.05	0.48080	T	0.837	0.46346	P	0.674	0.53247	P	0.000587	0.43095	D	0.257990	0.999992	0.58761	D	2.225	0.63025	M	-0.9	0.74896	T	-2.78	0.58896	D	0.274	0.31027	-0.2279	0.76943	T	0.399	0.75052	T	10	0.35728398	0.52447	T	0.040	0.59014	D	0.450	0.75074	0.588	0.71623	0.871000875088	0.86974	0.3940297277524325	0.39317	0.421820153893	0.42688	0.50691473484	0.39791	T	0.106674	0.41822	T	-0.171361	0.25028	T	-0.40106	0.33261	T	0.869318783283234	0.51925	D	0.931207	0.74412	D	0.40756693	0.61254	0.38591954	0.63497	0.40756693	0.61254	0.38591954	0.63497	-5.767	0.44286	T	.	.	0.094	0.14660	B	.	.	5.767844	0.93463	33	0.99918659545066757	0.98586	0.98155	0.80075	D	AEFBI	0.837517	0.75514	D	0.562372806979905	0.70838	5.560802	0.625474435867928	0.76796	6.557356	0.999999999999918	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	6.892000	0.75462	11.822000	0.97271	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.446	0.94838	574	0.70151	Glycosyltransferase 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1075.43	37	chr2	157284448	.	G	A	1075.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.887;SOR=0.661	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	547.15	205	chr2	157321525	.	C	G	547.15	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-3.715;DP=1784;ExcessHet=7.0302;FS=288.634;InbreedingCoeff=-0.5861;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.55;SOR=12.262	GT:AD:DP:GQ:PL	0/0:118,35:166:57:0,57,2111	2	0	7	1
chr2	157430559	157430559	G	A	exonic	CYTIP	.	nonsynonymous SNV	CYTIP:NM_004288:exon5:c.C476T:p.T159M	.	432	1089	1	0	0	1	0.000458926	0.0010	0.074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0160733490095	.	0.000199681	2.472e-05	0	0	0	0	2.998e-05	0	6.058e-05	2.59e-05	4	154602	rs534886532	3.148e-05	3.215e-05	3.405e-05	2.889e-05	0.0002	2.413e-05	2.158e-05	2.712e-05	2.388e-05	0	4.472e-05	0	0	0	0.0002	3.599e-05	3.312e-05	1.159e-05	3.94e-05	3.937e-05	6.425e-05	1.343e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.125e-05	2.405e-05	0	0	0	0	0	0	5.881e-05	0	0.0002	0.063	0.42487	T	0.176	0.52727	T	0.092	0.25296	B	0.073	0.28123	B	0.000418	0.44736	D	0.282616	1	0.81001	D	1.125	0.28843	L	1.5	0.31205	T	-0.01	0.32185	N	0.326	0.36674	-1.0589	0.12032	T	0.073	0.29419	T	9	0.11976424	0.22670	T	0.016073	0.37142	T	0.062	0.17934	0.513	0.61153	0.33440975612	0.33058	0.4132158772425751	0.41237	0.226571706203	0.25209	0.312266856432	0.12249	T	0.123248	0.44748	T	-0.314241	0.07380	T	-0.508866	0.21432	T	0.0934132249572416	0.11617	T	0.686031	0.38135	T	0.105750024	0.25004	0.11176847	0.26962	0.105750024	0.25004	0.11176847	0.26961	-5.209	0.39033	T	.	.	0.094	0.14293	B	.;.	.;.	2.845674	0.37553	20.5	0.97909508979895044	0.36801	0.58835	0.30750	D	AEFGBCI	0.215162	0.34055	N	-0.19374676826343	0.33393	1.89406	-0.123444954935714	0.34448	1.981584	0.961922587709504	0.28587	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.87	0.085	0.13751	0.856000	0.27473	2.449000	0.32805	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0787:0.5868:0.3346:0.0	11.194	0.47932	324	0.86790	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1048.43	144	chr2	157430559	.	G	A	1048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=458;ExcessHet=0;FS=5.495;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=-1.155;SOR=0.375	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	9	0	1	0
chr2	157738441	157738441	G	A	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon10:c.C1394T:p.P465L,ACVR1:NM_001111067:exon10:c.C1394T:p.P465L,ACVR1:NM_001347663:exon10:c.C1394T:p.P465L,ACVR1:NM_001347664:exon11:c.C1394T:p.P465L,ACVR1:NM_001347665:exon11:c.C1394T:p.P465L,ACVR1:NM_001347666:exon11:c.C1394T:p.P465L,ACVR1:NM_001347667:exon11:c.C1394T:p.P465L	Fibrodysplasia ossificans progressiva, Autosomal dominant	0	1521	1	0	0	1	0.000328623	0.9912	0.87	.	1873642	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0539651946211	.	.	5.766e-05	0	8.637e-05	0	0	2.997e-05	0	0.0002	5.82e-05	9	154602	rs750457181	4.926e-05	4.925e-05	4.492e-05	5.363e-05	0.0003	3.993e-05	3.669e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	3.597e-05	0.0001	0.0003	1.314e-05	1.313e-05	0	2.691e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.031	0.53788	D	0.995	0.67487	D	0.894	0.63417	P	0.000000	0.84330	D	0.048254	1	0.81001	D	2.02	0.55341	M	-0.12	0.64630	T	-6.62	0.92128	D	0.51	0.54496	-0.2413	0.76592	T	0.398	0.75009	T	10	0.5877458	0.66207	D	0.053965	0.65674	D	0.362	0.68230	0.567	0.68901	0.701433802764	0.69885	0.7208376655860169	0.72026	0.84883214251	0.68431	0.882464289665	0.94290	D	0.533794	0.83913	D	-0.230086	0.16639	T	-0.257761	0.49048	T	0.623288035392761	0.37341	D	0.893711	0.63166	D	0.68149126	0.77049	0.5452781	0.73715	0.68149126	0.77051	0.5452781	0.73716	-6.621	0.51214	T	.	.	0.103	0.18497	B	.;.;.;.	.;.;.;.	6.085469	0.94525	34	0.998616853418682	0.94002	0.98708	0.85845	D	AEFBI	0.792661	0.72089	D	0.756294839673936	0.83315	7.985237	0.751296779354879	0.86255	8.830742	0.999999985358002	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	6.870000	0.75324	11.913000	0.99630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.0:0.0:1.0:0.0	19.568	0.95396	818	0.41518	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1890.43	34	chr2	157738441	.	G	A	1890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.139;SOR=0.651	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1206	9	0	1	0
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.15	2070.45	39	chr2	157799450	.	G	C	2070.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.947;DP=484;ExcessHet=0.7463;FS=1.701;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.03;SOR=0.568	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	7	0	3	0
chr2	158102044	158102044	C	T	exonic	UPP2	.	nonsynonymous SNV	UPP2:NM_001135098:exon3:c.C152T:p.T51I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00379344630433	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.41074	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.38	0.34050	T	.	.	.	0.075	0.04913	-0.9905	0.32475	T	0.082	0.32382	T	6	0.11513704	0.21683	T	0.003793	0.08837	T	.	.	.	.	0.225215365344	0.22153	0.21511727426719987	0.21427	0.520712648786	0.49863	0.407165497541	0.26065	T	.	.	.	-0.357459	0.04275	T	-0.751241	0.03437	T	0.152441397309303	0.17297	T	0.256074	0.03980	T	.	.	.	.	.	.	.	.	-3.911	0.22467	T	.	.	0.136	0.29642	B	.	.	0.208894	0.05926	2.367	0.99033392536117393	0.50851	0.01095	0.04025	N	AEFBI	0.048459	0.08272	N	-0.549871935748009	0.20488	1.080385	-0.724584000477127	0.16349	0.8644707	0.017029082365554	0.12903	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.32	-0.403	0.11782	-0.062000	0.11631	.	.	0.599000	0.40250	0.169000	0.23921	0.347000	0.24452	0.006000	0.07323	0.0:0.3831:0.0:0.6169	6.249	0.20045	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1036.43	34	chr2	158102044	.	C	T	1036.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.339;DP=536;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.86;ReadPosRankSum=-0.594;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	9	0	1	0
chr2	158634114	158634114	C	T	exonic	PKP4	.	nonsynonymous SNV	PKP4:NM_001005476:exon9:c.C1387T:p.L463F,PKP4:NM_001304969:exon9:c.C1384T:p.L462F,PKP4:NM_001304970:exon9:c.C358T:p.L120F,PKP4:NM_001304971:exon9:c.C1387T:p.L463F,PKP4:NM_001377218:exon9:c.C1387T:p.L463F,PKP4:NM_001377219:exon9:c.C1384T:p.L462F,PKP4:NM_001377222:exon9:c.C1381T:p.L461F,PKP4:NM_001377223:exon9:c.C1381T:p.L461F,PKP4:NM_001377224:exon9:c.C1378T:p.L460F,PKP4:NM_001377225:exon9:c.C1387T:p.L463F,PKP4:NM_001377226:exon9:c.C1384T:p.L462F,PKP4:NM_003628:exon9:c.C1387T:p.L463F,PKP4:NM_001377220:exon10:c.C1384T:p.L462F,PKP4:NM_001377221:exon10:c.C1384T:p.L462F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0422653132746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.705	0.06071	T	0.982	0.67487	D	0.79	0.61233	P	0.000831	0.41547	D	0.165501	0.999999	0.58761	D	1.525	0.38595	L	-0.87	0.74583	T	-1.26	0.31778	N	0.585	0.64478	-0.2566	0.76180	T	0.512	0.81690	D	10	0.5543177	0.64431	D	0.042265	0.60372	D	0.254	0.56428	0.225	0.14960	0.783973327195	0.78197	0.4885891693623237	0.48778	0.610841183028	0.55752	0.687761306763	0.65384	T	0.084974	0.47559	T	0.0906535	0.63263	D	-0.107559	0.62806	T	0.799578718832487	0.46324	D	0.927707	0.73352	D	0.06449611	0.13690	0.120411575	0.29058	0.06449611	0.13690	0.120411575	0.29057	-9.98	0.74532	D	.	.	0.166	0.36574	B	.;.;.	.;.;.	4.697743	0.75339	26.3	0.99897830129088649	0.97048	0.98365	0.82038	D	AEFBI	0.722827	0.67264	D	0.615070181896314	0.74125	6.080184	0.655289984482591	0.79005	6.991899	0.999999823959065	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	2.709000	0.46828	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.439	0.99109	831	0.39019	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1128.43	34	chr2	158634114	.	C	T	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=407;ExcessHet=0;FS=2.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.651;SOR=1.04	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1106	9	0	1	0
chr2	159194338	159194338	C	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon14:c.C2221G:p.Q741E,TANC1:NM_001350063:exon15:c.C2455G:p.Q819E,TANC1:NM_001145909:exon17:c.C2800G:p.Q934E,TANC1:NM_001350064:exon17:c.C2803G:p.Q935E,TANC1:NM_033394:exon17:c.C2824G:p.Q942E,TANC1:NM_001350065:exon18:c.C2803G:p.Q935E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0162237660375	.	.	3.313e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs766810880	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0002	4.04e-06	2.95e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0002	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.116	0.36497	T	0.869	0.47796	P	0.636	0.51948	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.955	0.23872	L	-0.08	0.63911	T	-1.54	0.37375	N	0.435	0.47395	-0.5770	0.65736	T	0.297	0.66858	T	10	0.36412573	0.52965	T	0.016224	0.37369	T	0.197	0.47942	0.618	0.75232	0.642454921559	0.63950	0.7424170143003654	0.74187	0.826036576079	0.67408	0.603979110718	0.53465	T	0.103331	0.41188	T	-0.0618815	0.42612	T	-0.0669859	0.65841	T	0.265165030956268	0.23539	T	0.939006	0.77019	D	0.32066745	0.54696	0.34912696	0.60542	0.32066745	0.54696	0.34912696	0.60542	-11.091	0.80154	D	.	.	0.225	0.45665	B	.	.	4.267226	0.64895	24.8	0.99265193094458803	0.57356	0.97492	0.75099	D	AEFBI	0.721307	0.67159	D	0.458190575226291	0.64669	4.726754	0.531748674462113	0.70138	5.461278	0.999999999984099	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.608524	0.38960	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	5.080000	0.64267	7.682000	0.65344	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.492	0.95044	640	0.64132	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2246.43	39	chr2	159194338	.	C	G	2246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.42;DP=498;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.367;SOR=0.671	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1252	9	0	1	0
chr2	159229846	159229846	A	G	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.A3817G:p.T1273A,TANC1:NM_001350063:exon25:c.A4051G:p.T1351A,TANC1:NM_001350064:exon27:c.A4399G:p.T1467A,TANC1:NM_033394:exon27:c.A4420G:p.T1474A,TANC1:NM_001350065:exon28:c.A4399G:p.T1467A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0285616019597	.	.	8.295e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs760067178	6.157e-06	6.156e-06	4.084e-06	8.251e-06	1.159e-05	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.06735	T	0.896	0.03082	T	0.0	0.02946	B	0.0	0.01387	B	0.751978	0.09693	N	0.908929	1	0.08975	N	1.04	0.26193	L	-0.3	0.67874	T	-0.65	0.18877	N	0.042	0.01498	-1.0805	0.07252	T	0.104	0.38094	T	9	0.036940455	0.02019	T	0.028562	0.51215	D	0.138	0.37187	0.17	0.07536	0.152612264143	0.14878	0.15576892182136914	0.15497	0.143694538918	0.16225	0.242814078927	0.03049	T	0.058638	0.30898	T	-0.358213	0.04232	T	-0.570797	0.15377	T	0.0254992627054321	0.01339	T	0.49795	0.15494	T	0.031150103	0.02903	0.025660953	0.00620	0.031150103	0.02903	0.025660953	0.00619	-3.011	0.10300	T	.	.	0.056	0.00436	B	.	.	-0.843639	0.01024	0.043	0.22884852441160536	0.00942	0.04834	0.10563	N	AEFDBI	0.032277	0.03612	N	-1.41236893618702	0.02529	0.1118093	-1.54715018783421	0.01995	0.09116643	0.999999999992419	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.89	-11.8	0.00026	-0.409000	0.07223	-1.284000	0.05818	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.095:0.4817:0.2929:0.1304	7.012	0.24044	652	0.62785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3069.14	142	chr2	159229846	.	A	G	3069.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.91;DP=553;ExcessHet=0.2348;FS=9.831;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.63;SOR=1.208	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	8	0	2	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N,BAZ2B:NM_001329857:exon28:c.G4346A:p.S1449N,BAZ2B:NM_001329858:exon28:c.G4433A:p.S1478N,BAZ2B:NM_013450:exon28:c.G4508A:p.S1503N	.	431	977	111	3	0	117	0.0564944	.	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016616	0.000000	0.016304	0.014620	0.000000	0.008621	0.009146	0.049242	0.05	3168.43	34	chr2	159350063	.	C	T	3168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=568;ExcessHet=0;FS=0.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.138;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1178	9	0	1	0
chr2	159766895	159766895	T	C	exonic	MARCHF7	.	nonsynonymous SNV	MARCHF7:NM_001376243:exon10:c.T2060C:p.V687A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	37.37	1	chr2	159766895	.	T	C	37.37	.	AC=2;AF=0.143;AN=14;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=18.69;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr2	159882292	159882292	G	A	exonic	LY75;LY75-CD302	.	nonsynonymous SNV	LY75-CD302:NM_001198759:exon7:c.C1078T:p.R360C,LY75-CD302:NM_001198760:exon7:c.C1078T:p.R360C,LY75:NM_002349:exon7:c.C1078T:p.R360C	.	434	1083	4	1	0	6	0.00276243	.	.	.	732858	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	0.0046	0.00379393	0.0020	0.0108	0.0010	0.0001	0.0014	0.0011	0.0011	0.0021	0.0018305	283	154602	rs35675007	0.0015	0.0015	0.0015	0.0014	0.0112	0.0014	0.0014	0.0102	0.0099	0.0112	0.0008	0.0004	5.039e-05	0.0009	0.0002	0.0013	0.0015	0.0017	0.0038	0.0039	0.0041	0.0036	0.0113	0.0036	0.0035	0.0104	0.0101	0.0113	0	0.0005	0.0003	0.0002	0.0005	0.0034	0.0014	0.0009	0.0015	0.043	0.46129	D	0.022	0.57587	D	0.999	0.77913	D	0.724	0.55036	P	0.876324	0.07207	U	1.087950	0.99998	0.18612	N	1.955	0.52871	M	3.19	0.07353	T	-3.28	0.65627	D	0.348	0.38950	-0.9996	0.30030	T	0.035	0.14987	T	10	0.013620734	0.00288	T	.	.	.	0.151	0.39764	.	.	0.262175524916	0.25828	0.720105941669809	0.71953	0.240668348398	0.26608	.	.	.	0.394918	0.75393	T	-0.465514	0.00907	T	-0.43206	0.29703	T	0.0383423806585571	0.03393	T	0.911209	0.69352	D	0.11453023	0.27037	0.07591142	0.16760	0.11453023	0.27036	0.07591142	0.16760	-7.184	0.55366	T	.	.	0.123	0.33481	B	.;.;.	.;.;.	4.563538	0.71934	25.7	0.99923817210942145	0.98917	0.61317	0.31449	D	AEFDBHCIJ	0.404397	0.47770	N	0.376496331085992	0.60149	4.200958	0.440385804239781	0.64103	4.657792	0.999971086007283	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	2.617000	0.46049	8.632000	0.77857	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0:0.2692:0.7308:0.0	14.219	0.65353	620	0.66037	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1844.43	35	chr2	159882292	.	G	A	1844.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=471;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.18;ReadPosRankSum=1.1;SOR=0.387	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	9	0	1	0
chr2	160137782	160137782	C	T	exonic	ITGB6	.	nonsynonymous SNV	ITGB6:NM_001282354:exon8:c.G1027A:p.V343M,ITGB6:NM_001282388:exon9:c.G1186A:p.V396M,ITGB6:NM_001282390:exon9:c.G898A:p.V300M,ITGB6:NM_000888:exon10:c.G1312A:p.V438M,ITGB6:NM_001282355:exon10:c.G1312A:p.V438M,ITGB6:NM_001282389:exon10:c.G1093A:p.V365M,ITGB6:NM_001282353:exon11:c.G1312A:p.V438M	Amelogenesis imperfecta, type IH, Autosomal recessive	427	1025	62	8	0	78	0.0366541	.	.	.	707793	not_provided|Amelogenesis_imperfecta_type_1H	MedGen:C3661900|MONDO:MONDO:0014540,MedGen:C4015557,OMIM:616221,Orphanet:88661	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.509	.	0.0043	0.00658946	0.0089	0.0014	0.0035	0.0001	0.0012	0.0079	0.0166	0.0287	0.0082793	1280	154602	rs61737764	0.0059	0.0059	0.0051	0.0068	0.0286	0.0058	0.0058	0.0276	0.0273	0.0011	0.0030	0.0084	0.0001	0.0015	0.0277	0.0046	0.0070	0.0286	0.0043	0.0043	0.0039	0.0047	0.0249	0.0040	0.0039	0.0213	0.0199	0.0008	0.0033	0.0032	0.0066	0.0006	0.0012	0.0238	0.0057	0.0071	0.0249	0.003	0.68238	D	0.011	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.345	0.91022	M	-0.45	0.69896	T	-1.8	0.45042	N	0.297	0.34228	0.169	0.85386	D	0.481	0.80170	T	10	0.012100965	0.00261	T	.	.	.	0.509	0.78910	.	.	0.697297187285	0.69468	0.6160951086029223	0.61541	0.0810200920857	0.09117	0.485046923161	0.36752	T	0.771974	0.93904	D	-0.196078	0.21371	T	-0.0327995	0.68183	D	0.0909153406964552	0.11326	T	0.910609	0.69499	D	0.5046076	0.67364	0.3403883	0.59791	0.44955823	0.64013	0.3403883	0.59791	-6.427	0.49884	T	0.7321340703552297	0.81385	0.195	0.41541	B	.;.;.;.;.	.;.;.;.;.	4.120538	0.61586	24.4	0.99910961825783051	0.98022	0.97108	0.72736	D	AEFBI	0.604412	0.59552	D	0.80083389169006	0.86157	8.796558	0.733918385953222	0.84951	8.437762	0.999999989802394	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	3.374000	0.52132	4.071000	0.41665	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.997000	0.79791	0.0:1.0:0.0:0.0	19.113	0.93310	419	0.81524	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;Integrin beta subunit, VWA domain;.;Integrin beta subunit, VWA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.000000	0.023098	0.014620	0.000000	0.043103	0.036585	0.018939	0.1	3041.14	125	chr2	160137782	.	C	T	3041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.79;DP=513;ExcessHet=0.2348;FS=3.915;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.834;SOR=0.961	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	8	0	2	0
chr2	162047005	162047005	A	T	exonic	DPP4	.	nonsynonymous SNV	DPP4:NM_001379604:exon4:c.T192A:p.D64E,DPP4:NM_001379605:exon4:c.T189A:p.D63E,DPP4:NM_001379606:exon4:c.T195A:p.D65E,DPP4:NM_001935:exon4:c.T195A:p.D65E	.	508	1006	8	0	0	8	0.0039604	0.0002	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	0.0779797569933	.	0.000399361	0.0005	0	0	0	0	3.224e-05	0	0.0036	0.0003816	59	154602	rs200443496	0.0003	0.0003	0.0001	0.0004	0.0038	0.0003	0.0002	0.0035	0.0034	3.234e-05	0.0007	0	0	0	0.0017	2.205e-05	0.0003	0.0038	0.0005	0.0005	0.0002	0.0008	0.0036	0.0004	0.0004	0.0028	0.0026	0	0	0.0036	0	0	0	0	5.879e-05	0.0005	0.0033	0.428	0.09600	T	0.345	0.92824	T	0.0	0.02946	B	0.001	0.04355	B	0.000004	0.62929	D	0.108531	0.656902	0.33015	D	2.125	0.59049	M	-4.55	0.97753	D	-2.27	0.50666	N	0.39	0.44090	0.279	0.87222	D	0.810	0.93586	D	10	0.014040172	0.00296	T	0.07798	0.72898	D	0.395	0.71004	0.468	0.54052	0.903976142794	0.90302	0.7722326810168741	0.77173	0.128479209888	0.14485	0.516181826591	0.41089	T	0.745203	0.92975	D	-0.208964	0.19524	T	-0.0750442	0.65264	T	0.0267940643931501	0.01515	T	0.686731	0.31637	T	0.33033878	0.55499	0.12150165	0.29316	0.33033878	0.55499	0.12150165	0.29316	-4.887	0.35589	T	.	.	0.382	0.60275	A	.;.	.;.	1.893076	0.24047	16.25	0.98428285072011756	0.41364	0.36582	0.25566	N	AEFBI	0.090964	0.18430	N	-0.360333057197436	0.26896	1.471381	-0.241347461093422	0.30071	1.689988	0.742560789817965	0.23235	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.668105	0.65232	0	.	.	6.04	0.676	0.17125	0.938000	0.28562	5.314000	0.48272	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5675:0.0:0.2771:0.1554	3.651	0.07740	490	0.76723	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.005102	0.000000	0.002941	0.000000	0.000000	0.003067	0.003788	0.05	784.43	34	chr2	162047005	.	A	T	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.821;SOR=0.633	GT:AD:DP:GQ:PL	0/0:37,0:37:90:0,90,1350	9	0	1	0
chr2	162219117	162219117	A	G	exonic	FAP	.	nonsynonymous SNV	FAP:NM_001291807:exon7:c.T478C:p.F160L,FAP:NM_004460:exon8:c.T553C:p.F185L	.	444	1071	6	1	0	8	0.00372093	.	.	.	707803	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.096	.	0.0045	0.00379393	0.0057	0.0014	0.0025	0	0.0042	0.0081	0.0045	0.0047	0.0060284	932	154602	rs78722278	0.0077	0.0078	0.0078	0.0077	0.0090	0.0076	0.0075	0.0088	0.0088	0.0012	0.0033	0.0015	2.535e-05	0.0040	0.0072	0.0090	0.0066	0.0044	0.0052	0.0052	0.0057	0.0047	0.0088	0.0049	0.0048	0.0082	0.0080	0.0016	0	0.0032	0.0014	0	0.0037	0.0068	0.0088	0.0038	0.0052	0.644	0.04943	T	0.658	0.06554	T	0.0	0.07471	B	0.0	0.37080	B	0.376956	0.13445	N	0.706810	0.989018	0.24345	N	1.73	0.44655	L	1.56	0.29602	T	-1.25	0.31576	N	0.149	0.21449	-1.0266	0.21560	T	0.046	0.19720	T	10	0.0083857775	0.00190	T	.	.	.	0.096	0.27654	0.668	0.80602	0.332646915603	0.32870	0.544332967308418	0.54359	0.11656438583	0.13151	0.381922006607	0.22530	T	0.255272	0.62604	T	-0.619776	0.00110	T	-0.652654	0.08769	T	0.0217926043882547	0.00885	T	0.461354	0.15048	T	0.15334739	0.34764	0.11879058	0.28673	0.15334739	0.34764	0.11879058	0.28673	-6.748	0.52171	T	.	.	0.593	0.71521	P	.;.;.	.;.;.	1.656862	0.21132	15.07	0.9485787993232252	0.25665	0.28551	0.23585	N	AEFBI	0.295096	0.40530	N	-0.370313798676754	0.26531	1.44876	-0.227177701955888	0.30566	1.722142	0.998519735330986	0.37109	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.71	4.48	0.53973	0.523000	0.22632	4.512000	0.43652	0.754000	0.88378	0.008000	0.17931	1.000000	0.68203	0.998000	0.85391	0.5914:0.1215:0.0:0.2871	6.017	0.18836	355	0.85216	Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain;Dipeptidylpeptidase IV, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.008152	0.002924	0.000000	0.000000	0.018293	0.007576	0.05	576.43	33	chr2	162219117	.	A	G	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.019;DP=351;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.729;SOR=0.678	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,817	9	0	1	0
chr2	162268086	162268086	C	T	splicing	IFIH1	NM_022168:exon14:c.2807+1G>A	.	.	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	425	1072	24	1	0	26	0.0119816	1.0000	0.938	YES	516567	Immunodeficiency_95|Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0030692,MedGen:C5676929,OMIM:619773|MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0054	0.0061901	0.0071	0.0014	0.0039	0.0026	0.0017	0.0083	0.0093	0.0133	0.0068563	1060	154602	rs35732034	0.0089	0.0089	0.0087	0.0090	0.0206	0.0087	0.0087	0.0194	0.0189	0.0013	0.0031	0.0105	0.0206	0.0020	0.0071	0.0090	0.0079	0.0118	0.0054	0.0054	0.0059	0.0049	0.0101	0.0051	0.0050	0.0079	0.0072	0.0015	0	0.0035	0.0084	0.0079	0.0018	0.0068	0.0080	0.0085	0.0101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123313	0.66703	D	0.414742	0.92577	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.421348	0.90701	31	0.99538050422870605	0.70336	0.99640	0.98249	D	AEFBI	.	.	.	1.11613391741329	0.98421	18.23353	0.94565821059137	0.97272	15.85643	0.999999999312529	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.063197	0.01477	0	0.092715	0.02821	0	0.978623	0.82860	4.74	4.74	0.59717	7.284000	0.78011	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	18.077	0.89359	405	0.82444	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2238.14	35	chr2	162268086	.	C	T	2238.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.375;DP=454;ExcessHet=0.2348;FS=0.615;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.77;SOR=0.619	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1308	8	0	2	0
chr2	162276886	162276886	G	A	exonic	IFIH1	.	nonsynonymous SNV	IFIH1:NM_022168:exon11:c.C2105T:p.T702I	Aicardi-Goutieres syndrome 7, Autosomal dominant;Singleton-Merten syndrome 1, Autosomal dominant	436	1075	9	2	0	13	0.00601017	.	.	.	516575	Aicardi-Goutieres_syndrome_7|Singleton-Merten_syndrome_1|not_provided|IFIH1-related_disorder	MONDO:MONDO:0014367,MedGen:C3888244,OMIM:615846,Orphanet:51|MONDO:MONDO:0024535,MedGen:C4225427,OMIM:182250,Orphanet:85191|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00311255286654	0.0022	0.00119808	0.0022	0.0006	0.0010	0	0.0006	0.0035	0.0022	0.0006	0.0022509	348	154602	rs72650663	0.0034	0.0034	0.0034	0.0034	0.0040	0.0033	0.0033	0.0039	0.0038	0.0006	0.0013	0.0040	0	0.0010	0.0040	0.0040	0.0038	0.0005	0.0025	0.0025	0.0028	0.0022	0.0043	0.0023	0.0022	0.0039	0.0037	0.0006	0	0.0016	0.0040	0	0.0007	0.0034	0.0043	0.0033	0.0010	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.001	0.04355	B	0.398190	0.13161	N	0.752997	1	0.08975	N	1.04	0.26193	L	3.57	0.04645	T	-1.61	0.38734	N	0.155	0.16028	-0.9783	0.35390	T	0.006	0.01870	T	10	0.0051235557	0.00111	T	0.003113	0.06756	T	0.030	0.07022	.	.	0.154104182512	0.14974	0.14239699947887652	0.14162	0.0253377058962	0.02582	0.310032010078	0.11912	T	0.110274	0.42483	T	-0.716175	0.00029	T	-0.80152	0.01865	T	0.0012033429791264	0.00012	T	0.641436	0.26514	T	0.07622874	0.17225	0.07474176	0.16384	0.07366213	0.16476	0.09073053	0.21293	-4.842	0.35077	T	0.2081342723913996	0.27833	0.084	0.41977	B	.;.;.	.;.;.	0.056580	0.04687	1.330	0.89092026717404338	0.18504	0.07279	0.13301	N	AEFBI	0.093619	0.18940	N	-1.26431277885618	0.04113	0.1850451	-1.29815290767241	0.04456	0.2102195	0.753146186280519	0.23392	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.36	-5.56	0.02328	-0.177000	0.09789	0.032000	0.13746	-0.106000	0.15538	0.000000	0.06391	0.161000	0.23262	0.986000	0.61781	0.5061:0.0865:0.1488:0.2586	3.213	0.06292	446	0.79659	Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.006793	0.005848	0.050000	0.008621	0.003049	0.000000	0.1	2010.14	33	chr2	162276886	.	G	A	2010.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.681;DP=461;ExcessHet=0.2348;FS=0.57;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.929;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	8	0	2	0
chr2	164694732	164694732	C	A	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.G2660T:p.S887I,COBLL1:NM_001278460:exon12:c.G2798T:p.S933I,COBLL1:NM_001365670:exon12:c.G2795T:p.S932I,COBLL1:NM_001365672:exon12:c.G2660T:p.S887I,COBLL1:NM_001365673:exon12:c.G2660T:p.S887I,COBLL1:NM_014900:exon12:c.G2774T:p.S925I,COBLL1:NM_001365671:exon13:c.G2837T:p.S946I,COBLL1:NM_001365674:exon13:c.G2699T:p.S900I,COBLL1:NM_001365675:exon13:c.G2699T:p.S900I,COBLL1:NM_001278458:exon15:c.G2975T:p.S992I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0383733491098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.041	0.56192	D	1.0	0.90584	D	0.999	0.92359	D	0.000043	0.53742	D	0.131433	0.95664	0.37984	D	2.545	0.74286	M	.	.	.	-3.89	0.72820	D	0.611	0.69125	-0.4747	0.69559	T	0.296	0.66707	T	9	0.6261566	0.68254	D	0.038373	0.58186	D	0.186	0.46104	0.405	0.43738	0.565281569661	0.56191	0.5228720770325227	0.52210	0.333430648121	0.35378	0.453344196081	0.32400	T	0.184905	0.63350	T	-0.0146784	0.49608	T	-0.258861	0.48938	T	0.990578591823578	0.80798	D	0.868613	0.59013	D	0.34722766	0.56851	0.24606119	0.50108	0.34722766	0.56851	0.24606119	0.50107	-5.28	0.39744	T	.	.	0.284	0.51643	B	.;.;.;.	.;.;.;.	3.351684	0.46229	22.3	0.99327446288827126	0.59622	0.81480	0.40875	D	AEFBCI	0.418873	0.48633	N	0.0672263424651094	0.44937	2.75892	-0.0203853309440235	0.38795	2.290811	0.999999033930781	0.74766	0.562547	0.31514	0	0.573888	0.26702	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	6.03	3.31	0.37025	1.919000	0.39646	0.373000	0.17698	-0.176000	0.10722	0.988000	0.36536	0.033000	0.21346	0.733000	0.35199	0.0:0.8043:0.0:0.1957	11.264	0.48329	874	0.30607	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	668.43	55	chr2	164694732	.	C	A	668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.131;DP=454;ExcessHet=0;FS=2.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.155;SOR=1.073	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr2	164695662	164695662	T	C	exonic	COBLL1	.	nonsynonymous SNV	COBLL1:NM_001278461:exon11:c.A1730G:p.K577R,COBLL1:NM_001278460:exon12:c.A1868G:p.K623R,COBLL1:NM_001365670:exon12:c.A1865G:p.K622R,COBLL1:NM_001365672:exon12:c.A1730G:p.K577R,COBLL1:NM_001365673:exon12:c.A1730G:p.K577R,COBLL1:NM_014900:exon12:c.A1844G:p.K615R,COBLL1:NM_001365671:exon13:c.A1907G:p.K636R,COBLL1:NM_001365674:exon13:c.A1769G:p.K590R,COBLL1:NM_001365675:exon13:c.A1769G:p.K590R,COBLL1:NM_001278458:exon15:c.A2045G:p.K682R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00586525363405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.05357	T	0.496	0.15109	T	0.072	0.23997	B	0.031	0.21939	B	0.127411	0.18768	N	0.569031	1	0.08975	N	1.435	0.35949	L	.	.	.	-0.14	0.12099	N	0.063	0.05287	-1.0449	0.15854	T	0.046	0.19879	T	9	0.038332254	0.02245	T	0.005865	0.15251	T	0.019	0.03383	0.14	0.04369	0.276065633971	0.27208	0.07125550493659911	0.07062	0.045035419112	0.04870	0.256193101406	0.04447	T	0.001002	0.04708	T	-0.309096	0.07828	T	-0.681772	0.06876	T	0.0583060775199121	0.06898	T	0.729627	0.34527	T	0.017412927	0.00271	0.02032806	0.00130	0.017412927	0.00271	0.02032806	0.00130	-4.781	0.34369	T	.	.	0.093	0.14155	B	.;.;.;.	.;.;.;.	-0.014280	0.04185	1.014	0.63485899417703362	0.07236	0.04726	0.10422	N	AEFBI	0.113965	0.22466	N	-1.10136577650457	0.06619	0.3052204	-1.10171317567768	0.07667	0.3738704	0.999376317919198	0.39355	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	6.06	0.193	0.14419	0.109000	0.15252	2.198000	0.31263	-0.155000	0.11859	0.015000	0.19116	0.999000	0.35428	0.005000	0.06747	0.1146:0.2337:0.2369:0.4148	1.465	0.02258	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2084.43	55	chr2	164695662	.	T	C	2084.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=578;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-1.854;SOR=0.716	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr2	166251792	166251792	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon18:c.G3445A:p.D1149N,SCN9A:NM_002977:exon18:c.G3412A:p.D1138N	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	930956	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.297	0.0272266439041	.	0.000399361	3.335e-05	0.0001	0	0.0001	0	0	0	0.0001	3.88e-05	6	154602	rs199859971	3.56e-05	3.557e-05	3.27e-05	3.854e-05	8.979e-05	2.765e-05	2.504e-05	2.996e-05	2.226e-05	8.979e-05	0	0	2.521e-05	0	0	3.42e-05	6.635e-05	6.959e-05	1.972e-05	2.625e-05	0	4.033e-05	0.0002	5.24e-06	2.45e-06	.	.	2.407e-05	0	0	0	0.0002	0	0	1.471e-05	0	0	0.131	0.26740	T	0.413	0.14544	T	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	0.99678	0.22906	N	0.585	0.15399	N	-1.74	0.83413	D	0.2	0.04861	N	0.317	0.35727	-0.8105	0.54520	T	0.300	0.67157	T	10	0.084877014	0.14270	T	0.027227	0.50063	D	0.297	0.61730	.	.	0.634123272708	0.63112	0.18469825721775032	0.18387	0.172492847647	0.19426	0.406582653522	0.25983	T	0.170654	0.51847	T	-0.255845	0.13391	T	-0.368611	0.37051	T	0.102912839707925	0.12675	T	0.878912	0.59551	D	0.14846732	0.33894	0.12873968	0.30967	0.14846732	0.33894	0.12873968	0.30967	-3.187	0.12322	T	0.10196861541629304	0.07697	0.079	0.12228	B	.;.;.;.;.;.	.;.;.;.;.;.	3.884380	0.56480	23.7	0.99692947432023371	0.80044	0.15095	0.18742	N	AEFGI	0.129722	0.24801	N	-0.321962232266103	0.28315	1.560783	-0.163399286318726	0.32895	1.876138	0.97154405565473	0.29296	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.82	5.82	0.92740	-0.005000	0.12791	4.874000	0.45597	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.952000	0.50033	0.2721:0.7279:0.0:0.0	13.273	0.59602	301	0.87912	.;Sodium ion transport-associated;.;Sodium ion transport-associated;Sodium ion transport-associated;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1298.43	35	chr2	166251792	.	C	T	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.531;DP=439;ExcessHet=0;FS=2.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.737;SOR=0.899	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	9	0	1	0
chr2	166305834	166305834	C	T	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon5:c.G554A:p.R185H,SCN9A:NM_002977:exon5:c.G554A:p.R185H	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	2	1519	1	0	0	1	0.000329056	.	.	.	167457	Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Paroxysmal_extreme_pain_disorder|not_provided|not_specified|Small_fiber_neuropathy|Primary_erythromelalgia|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Generalized_epilepsy_with_febrile_seizures_plus,_type_7	MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800207,MedGen:C3276706|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.888	.	0.0057	0.00638978	0.0033	0.0145	0.0009	0.0043	0.0021	0.0028	0	0.0006	0.0033505	518	154602	rs73969684	0.0021	0.0021	0.0022	0.0020	0.0130	0.0020	0.0020	0.0120	0.0116	0.0130	0.0011	0	0.0022	0.0027	0.0005	0.0019	0.0034	0.0007	0.0054	0.0054	0.0056	0.0052	0.0138	0.0051	0.0050	0.0129	0.0125	0.0138	0.0132	0.0017	0	0.0056	0.0022	0	0.0022	0.0024	0.0008	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000134	0.49741	N	0.089808	0.999919	0.51042	D	3.83	0.95627	H	-5.22	0.98879	D	-4.85	0.81107	D	0.922	0.94786	0.682	0.92955	D	0.960	0.98707	D	10	0.01727277	0.00368	T	.	.	.	0.888	0.96762	.	.	0.923945200506	0.92317	0.9083131135529481	0.90804	0.623418994379	0.56572	0.772302865982	0.77770	T	0.951176	0.99298	D	-0.073912	0.40699	T	0.133378	0.79113	D	0.107933109346734	0.13207	T	0.979802	0.93081	D	0.8339059	0.86176	0.7171564	0.83304	0.74252474	0.80438	0.6797947	0.81188	-13.13	0.90189	D	0.8808277740061006	0.93862	0.378	0.69620	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.147595	0.86207	28.8	0.99958598422774381	0.99990	0.98107	0.79657	D	AEFI	0.809329	0.73286	D	0.891591483733262	0.91340	10.83502	0.799736068600589	0.89775	10.11606	0.999935946766929	0.46732	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.96	5.09	0.68647	6.156000	0.71637	7.688000	0.65646	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.9327:0.0:0.0673	15.192	0.72739	582	0.69555	.;Ion transport domain;.;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	950.43	39	chr2	166305834	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.095;SOR=0.592	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1067	9	0	1	0
chr2	166409792	166409792	C	A	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon25:c.G3855T:p.W1285C	.	440	1076	6	0	0	6	0.00278035	.	.	.	746905	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.581	0.125188221512	.	0.00119808	0.0017	0	0.0012	0	0	0.0005	0.0034	0.0049	0.0005886	91	154602	rs199934497	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0040	3.061e-05	0.0004	0.0003	7.899e-05	0	0.0041	0.0001	0.0005	0.0046	0.0003	0.0003	0.0002	0.0004	0.0033	0.0002	0.0002	0.0021	0.0017	2.41e-05	0	0.0004	0.0006	0	0	0	0.0002	0.0014	0.0033	0.014	0.53172	D	0.177	0.29740	T	0.279	0.32056	B	0.127	0.32738	B	0.000039	0.55875	D	0.078649	0.999998	0.58761	D	2.505	0.72935	M	-4.91	0.98352	D	-4.29	0.76414	D	0.719	0.72120	0.855	0.95094	D	0.899	0.96665	D	10	0.012905896	0.00275	T	0.125188	0.80666	D	0.581	0.83137	0.565	0.68633	0.94355712992	0.94297	0.4007416197815732	0.39989	0.18551684636	0.20855	0.382662415504	0.22634	T	0.738461	0.92736	D	-0.0258252	0.48019	T	0.189983	0.82569	D	0.0980274052913696	0.12139	T	0.125387	0.00975	T	0.31031883	0.53814	0.37287125	0.62486	0.31031883	0.53814	0.37287125	0.62486	-6.695	0.51773	T	.	.	0.405	0.60019	A	.;.;.;.;.	.;.;.;.;.	3.351739	0.46229	22.3	0.98011830748874385	0.37559	0.75066	0.36738	D	AEFBI	0.637665	0.61636	D	-0.0411488673502757	0.39999	2.36801	0.0424827174169433	0.41710	2.510435	0.999995566304007	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	1.176000	0.31566	4.002000	0.41083	0.599000	0.40250	0.500000	0.26956	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	17.023	0.86312	632	0.64850	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005045	0.000000	0.001362	0.000000	0.050000	0.017544	0.006098	0.015152	0.05	1539.43	33	chr2	166409792	.	C	A	1539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.732;DP=439;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.124;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	9	0	1	0
chr2	166903764	166903764	A	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001079810:exon2:c.A282T:p.E94D,XIRP2:NM_001199143:exon2:c.A282T:p.E94D,XIRP2:NM_152381:exon2:c.A282T:p.E94D	.	432	1085	4	1	0	6	0.00275735	.	.	.	2368840	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.0744000515216	0.0002	.	9.134e-05	0	0	0	0	0.0002	0	6.057e-05	7.12e-05	11	154602	rs199731929	5.063e-05	5.062e-05	4.493e-05	5.639e-05	0.0005	4.126e-05	3.779e-05	0.0001	7.544e-05	5.977e-05	0	0	0	0	0.0005	5.846e-05	4.969e-05	1.159e-05	5.262e-05	5.255e-05	6.429e-05	4.04e-05	8.827e-05	2.559e-05	1.832e-05	3.764e-05	2.577e-05	0	0	0	0	0	0	0	8.827e-05	0.0010	0	0.164	0.38407	T	0.195	0.28032	T	0.93	0.51791	P	0.561	0.49582	P	.	.	.	.	0.999106	0.21709	N	.	.	.	-1.63	0.82533	D	-1.5	0.36586	N	0.244	0.30574	-0.4724	0.69641	T	0.484	0.80306	T	8	0.14415249	0.27359	T	0.074	0.72032	D	0.131	0.35738	0.146	0.04941	0.219573609325	0.21563	0.00882840362890995	0.00846	0.0196242383093	0.01924	0.337409675121	0.16050	T	.	.	.	-0.238119	0.15590	T	-0.331509	0.41302	T	0.0589416987357846	0.07000	T	0.60284	0.22604	T	.	.	.	.	.	.	.	.	-4.258	0.27584	T	.	.	0.155	0.34492	B	.;.;.	.;.;.	1.434047	0.18528	13.78	0.97089765942068829	0.32319	0.63299	0.32046	D	AEFI	0.093815	0.18978	N	0.0329906951105039	0.43360	2.63051	-0.0210481609658145	0.38766	2.288657	2.73315686145173E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.12	3.95	0.44952	0.655000	0.24618	0.025000	0.13648	0.756000	0.94297	1.000000	0.71638	0.021000	0.20819	0.117000	0.19042	0.902:0.0:0.098:0.0	7.627	0.27387	272	0.89337	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1933.43	38	chr2	166903764	.	A	T	1933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.697;DP=541;ExcessHet=0;FS=1.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.743;SOR=0.609	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1134	9	0	1	0
chr2	167242806	167242806	T	C	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.T748C:p.S250P,XIRP2:NM_152381:exon9:c.T1414C:p.S472P	.	429	1045	46	2	0	50	0.0233645	.	.	.	778897	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.095	.	0.0025	0.00439297	0.0063	0.0004	0.0035	0	0.0003	0.0033	0.0134	0.0289	0.0055045	851	154602	rs143400009	0.0045	0.0045	0.0035	0.0054	0.0369	0.0044	0.0044	0.0329	0.0313	0.0010	0.0024	0.0049	5.038e-05	0.0004	0.0369	0.0029	0.0047	0.0301	0.0031	0.0031	0.0025	0.0037	0.0247	0.0029	0.0028	0.0211	0.0197	0.0006	0	0.0035	0.0063	0.0002	0.0004	0.0340	0.0034	0.0038	0.0247	0.006	0.63226	D	.	.	.	0.999	0.90584	D	0.996	0.88582	D	0.001944	0.37596	N	0.262543	0.999984	0.81001	D	2.9	0.83903	M	4.07	0.03063	T	-1.77	0.43717	N	0.354	0.42639	-1.2009	0.00143	T	0.028	0.11882	T	10	0.005220413	0.00114	T	.	.	.	0.095	0.27398	.	.	0.215869574891	0.21205	0.17762130883602176	0.17681	0.171636757321	0.19330	0.411723613739	0.26695	T	0.143441	0.47955	T	-0.449406	0.01139	T	-0.396004	0.33850	T	0.0422405308829457	0.04099	T	0.747925	0.36851	T	0.29689428	0.52624	0.4320337	0.66802	0.29689428	0.52624	0.4320337	0.66802	-2.586	0.06397	T	.	.	0.183	0.39765	B	.;.;.	.;.;.	4.240903	0.64293	24.7	0.99888557470709538	0.96281	0.95306	0.64209	D	AEFI	0.762766	0.70007	D	0.598691571459322	0.73092	5.91011	0.585353958195039	0.73888	6.044908	0.999999855070745	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	2.925000	0.48580	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.437	0.74881	665	0.61472	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.034743	0.015152	0.021739	0.070175	0.000000	0.034483	0.024390	0.060606	0.05	2236.43	33	chr2	167242806	.	T	C	2236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.006;DP=526;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.465;SOR=0.764	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	9	0	1	0
chr2	167249020	167249020	C	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001199144:exon7:c.C6962T:p.P2321L,XIRP2:NM_152381:exon9:c.C7628T:p.P2543L	.	436	1085	1	0	0	1	0.000460617	.	.	.	774616	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.366	.	.	0.00219649	0.0013	0	0	0	0	0	0.0011	0.0094	0.0011255	174	154602	rs373000528	0.0006	0.0006	0.0003	0.0008	0.0090	0.0005	0.0005	0.0085	0.0083	0	2.261e-05	0	0	0	0.0010	1.8e-06	0.0005	0.0090	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	0	0	0.0091	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.33	0.66821	M	2.22	0.18875	T	-5.92	0.88963	D	0.857	0.85554	-0.9500	0.40972	T	0.154	0.48498	T	10	0.00958845	0.00216	T	.	.	.	0.366	0.68582	0.313	0.28774	0.296329037015	0.29243	0.4773633663436964	0.47656	0.163564079484	0.18441	0.684622168541	0.64933	T	0.497907	0.81958	T	-0.106543	0.35339	T	0.0808623	0.75636	D	0.115996579400991	0.14034	T	0.90081	0.66396	D	0.46480623	0.64970	0.36231536	0.61639	0.46480623	0.64970	0.36231536	0.61639	-8.076	0.61587	D	.	.	0.907	0.83224	P	.;.;.	.;.;.	4.645149	0.73984	26.1	0.99904071638290592	0.97502	0.98656	0.85210	D	AEFBI	0.798901	0.72532	D	0.86801339950273	0.90109	10.25658	0.866012137804217	0.93916	12.371	0.999999999955278	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	6.932000	0.75683	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.195	0.93673	604	0.67577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	782.43	79	chr2	167249020	.	C	T	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.904;SOR=0.671	GT:AD:DP:GQ:PL	0/1:47,31:78:99:794,0,1182	9	0	1	0
chr2	168824689	168824689	A	C	exonic	NOSTRIN	.	nonsynonymous SNV	NOSTRIN:NM_001039724:exon3:c.A169C:p.S57R,NOSTRIN:NM_001171631:exon7:c.A169C:p.S57R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00962018641572	0.0004	0.000199681	0.0003	0	0	0	0	0.0004	0.0022	0.0003	0.0002523	39	154602	rs199677615	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0007	0	0.0001	0	0	3.763e-05	0.0019	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	2.405e-05	0	0.0002	0	0	0	0.0034	0.0003	0.0005	0.0004	0.048	0.40068	D	0.073	0.43159	T	0.491	0.36960	P	0.326	0.41929	B	0.011742	0.29415	N	0.417437	0.999998	0.81001	D	2.125	0.59049	M	2.29	0.17113	T	-1.41	0.34795	N	0.235	0.28498	-1.0749	0.08369	T	0.036	0.15422	T	10	0.080076665	0.12956	T	0.00962	0.25153	T	0.078	0.22779	0.524	0.62818	0.28492961333	0.28089	0.32254255270305715	0.32167	0.293306786862	0.31753	0.355821669102	0.18775	T	0.003337	0.02738	T	-0.443582	0.01232	T	-0.54901	0.17420	T	0.0814535970985223	0.10172	T	0.787421	0.45238	T	0.16103226	0.36085	0.2347877	0.48704	0.16103226	0.36085	0.2347877	0.48703	-7.222	0.55639	T	.	.	0.440	0.61715	A	.;.;.	.;.;.	2.559985	0.33151	19.26	0.59191360947804417	0.06166	0.91660	0.53993	D	AEFBI	0.621947	0.60645	D	-0.243901164976922	0.31348	1.756792	-0.169334880680425	0.32671	1.861107	0.999656529792383	0.41424	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.18	4.02	0.45968	2.498000	0.45023	6.110000	0.53654	0.756000	0.94297	0.964000	0.33853	0.998000	0.33993	0.990000	0.65344	0.9129:0.0:0.0871:0.0	9.220	0.36532	777	0.48198	.;.;FCH domain|F-BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	270.43	34	chr2	168824689	.	A	C	270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.671;DP=409;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.43;ReadPosRankSum=1.09;SOR=0.644	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1106	9	0	1	0
chr2	168856728	168856728	T	A	exonic	NOSTRIN	.	nonsynonymous SNV	NOSTRIN:NM_001171632:exon11:c.T919A:p.S307T,NOSTRIN:NM_052946:exon11:c.T769A:p.S257T,NOSTRIN:NM_001039724:exon12:c.T1003A:p.S335T,NOSTRIN:NM_001171631:exon17:c.T1174A:p.S392T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00338892833889	.	.	8.284e-05	0	0	0	0	2.998e-05	0	0.0005	6.47e-05	10	154602	rs773268786	4.036e-05	4.036e-05	2.859e-05	5.225e-05	0.0005	3.179e-05	2.91e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.529e-05	3.311e-05	0.0005	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.137	0.27080	T	0.182	0.29249	T	0.009	0.17332	B	0.004	0.15521	B	0.000307	0.45977	N	0.226595	0.787797	0.30322	N	2.075	0.57047	M	1.36	0.38397	T	-1.41	0.36787	N	0.227	0.26957	-1.0861	0.06209	T	0.068	0.27743	T	10	0.038913935	0.02343	T	0.003389	0.07603	T	0.060	0.17295	0.091	0.01065	0.35139820857	0.34749	0.20502623203041812	0.20419	0.075919506711	0.08520	0.328623056412	0.14726	T	0.003119	0.02525	T	-0.486268	0.00681	T	-0.608306	0.12122	T	0.0486385860051408	0.05259	T	0.630437	0.25461	T	0.072547145	0.16148	0.09778226	0.23289	0.072547145	0.16147	0.09778226	0.23288	-4.349	0.28858	T	.	.	0.081	0.08081	B	.;.;.;.;.;.	.;.;.;.;.;.	1.899971	0.24129	16.28	0.93401256390363385	0.23160	0.31369	0.24320	N	AEFDGBHCI	0.343862	0.43954	N	-0.55265219273992	0.20400	1.075151	-0.475202250766674	0.22839	1.242527	0.999979396661642	0.50053	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.03	3.66	0.41111	0.910000	0.28193	3.053000	0.36128	0.665000	0.62972	0.018000	0.19461	0.998000	0.33993	0.998000	0.85391	0.1492:0.0:0.1566:0.6943	6.900	0.23458	766	0.49742	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1198.43	37	chr2	168856728	.	T	A	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.193;DP=459;ExcessHet=0;FS=1.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.065;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	9	0	1	0
chr2	169083565	169083565	G	A	exonic	DHRS9	.	nonsynonymous SNV	DHRS9:NM_001142271:exon3:c.G550A:p.E184K,DHRS9:NM_001289763:exon3:c.G730A:p.E244K,DHRS9:NM_001376924:exon3:c.G550A:p.E184K,DHRS9:NM_001142270:exon4:c.G550A:p.E184K,DHRS9:NM_199204:exon4:c.G550A:p.E184K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.792	0.111063887881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.018	0.63918	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.96	0.53105	M	-2.26	0.93587	D	-3.95	0.73477	D	0.933	0.94904	0.956	0.96486	D	0.905	0.96859	D	10	0.90157986	0.89520	D	0.111064	0.78870	D	0.792	0.93148	0.707	0.84327	0.995605955077	0.99555	0.9547783327535269	0.95462	.	.	0.608030557632	0.54037	T	0.633414	0.88667	D	0.483631	0.93822	D	0.456926	0.93744	D	0.99544095993042	0.87437	D	0.985901	0.97969	D	0.9368786	0.94930	0.90053695	0.95014	0.9368786	0.94930	0.90053695	0.95015	-7.876	0.60222	D	.	.	0.340	0.64169	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.382617	0.90202	31	0.99933561538896565	0.99488	0.99401	0.95555	D	AEFDBI	0.940974	0.94364	D	1.01171894195894	0.96094	14.29441	1.00182676140431	0.98663	18.954	1.0	0.98316	0.553676	0.25195	0	0.480063	0.06835	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.17	6.17	0.99707	9.850000	0.98378	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.474	0.99171	838	0.37812	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	830.43	34	chr2	169083565	.	G	A	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.279;DP=384;ExcessHet=0;FS=1.003;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.262;SOR=0.896	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1259	9	0	1	0
chr2	169095663	169095663	G	C	exonic	DHRS9	.	nonsynonymous SNV	DHRS9:NM_001142271:exon5:c.G856C:p.D286H,DHRS9:NM_001289763:exon5:c.G1036C:p.D346H,DHRS9:NM_001376924:exon5:c.G856C:p.D286H,DHRS9:NM_001142270:exon6:c.G856C:p.D286H,DHRS9:NM_199204:exon6:c.G856C:p.D286H	.	430	1061	31	0	0	31	0.0143985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.795	0.0754832447197	0.0041	0.00159744	0.0038	0.0005	0.0026	0	0.0047	0.0055	0.0066	0.0016	0.0039003	603	154602	rs11695788	0.0046	0.0046	0.0046	0.0046	0.0165	0.0045	0.0045	0.0138	0.0128	0.0006	0.0030	0.0039	0	0.0048	0.0165	0.0051	0.0047	0.0021	0.0033	0.0033	0.0031	0.0035	0.0051	0.0031	0.0030	0.0047	0.0045	0.0007	0	0.0035	0.0040	0	0.0031	0.0034	0.0051	0.0047	0.0027	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.51	0.92865	H	-4.07	0.96562	D	-6.6	0.92561	D	0.701	0.80669	0.919	0.95949	D	0.940	0.98030	D	10	0.014248908	0.00300	T	0.075483	0.72299	D	0.795	0.93266	.	.	0.996999142816	0.99696	0.7790388770900196	0.77854	.	.	0.557162642479	0.46867	T	0.426319	0.77615	T	0.206615	0.74512	D	0.526208	0.95127	D	0.0506369703052366	0.05611	T	0.944706	0.80719	D	0.85138476	0.87438	0.7850274	0.87337	0.85138476	0.87440	0.7850274	0.87338	-9.816	0.72802	D	.	.	0.764	0.83439	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.110542	0.85434	28.6	0.99569901424726848	0.72318	0.92481	0.55812	D	ALL	0.787318	0.71713	D	0.998600906566439	0.95700	13.87712	0.946920636983953	0.97310	15.91854	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.563428	0.18855	0	0.836244	0.99985	0	.	.	5.93	5.93	0.95888	6.098000	0.71106	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.936	0.97143	841	0.37094	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.008152	0.002924	0.000000	0.017241	0.012195	0.011364	0.05	935.43	34	chr2	169095663	.	G	C	935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.434;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.006;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr2	169157424	169157424	C	T	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.G11966A:p.C3989Y	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3716647	Donnai-Barrow_syndrome	MONDO:MONDO:0009104,MedGen:C1857277,OMIM:222448,Orphanet:2143	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.806	0.241548340331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.98	0.85499	M	-4.52	0.97693	D	-9.97	0.98788	D	0.978	0.98840	1.092	0.99320	D	0.933	0.97809	D	10	0.8833375	0.87651	D	0.241548	0.88722	D	0.806	0.93699	0.489	0.57415	0.913727486721	0.91286	0.9963272788796702	0.99630	2.21030123888	0.95757	0.654697299004	0.60652	T	0.59122	0.86761	D	0.547699	0.95668	D	0.548955	0.95604	D	0.999599039554596	0.98068	D	0.99961	0.99838	D	0.95857286	0.97136	0.94939035	0.98363	0.95857286	0.97136	0.94939035	0.98363	-13.597	0.91673	D	.	.	0.987	0.92711	P	.;.	.;.	4.337275	0.66507	25.0	0.99730655281768066	0.82761	0.98691	0.85635	D	AEFBI	0.891640	0.82779	D	0.698004536028874	0.79502	7.091025	0.712999882364409	0.83367	8.00278	0.999999999967115	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	7.455000	0.79783	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:1.0:0.0:0.0	19.823	0.96602	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	90.43	41	chr2	169157424	.	C	T	90.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.296;DP=345;ExcessHet=0;FS=16.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=-0.142;SOR=3.229	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:97:.:.:0,97,850:.	9	0	1	0
chr2	169157427	169157427	A	G	exonic	LRP2	.	nonsynonymous SNV	LRP2:NM_004525:exon64:c.T11963C:p.I3988T	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.127879568152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.005	0.72224	D	0.995	0.67487	D	0.756	0.56253	P	0.000003	0.62929	D	0.103381	1	0.81001	D	2.885	0.83555	M	-1.6	0.82165	D	-3.48	0.67941	D	0.626	0.64052	-0.0772	0.80616	T	0.508	0.81488	D	10	0.7716267	0.77129	D	0.12788	0.80975	D	0.747	0.91285	0.564	0.68499	0.503923442013	0.50028	0.7832040228606884	0.78271	1.78967707913	0.91486	0.593845129013	0.52036	T	0.298482	0.67104	T	0.260398	0.79567	D	0.136267	0.79302	D	0.990498244762421	0.80716	D	0.942106	0.78341	D	0.4420152	0.63532	0.4147697	0.65610	0.4420152	0.63532	0.4147697	0.65610	-6.039	0.46604	T	.	.	0.619	0.69669	P	.;.	.;.	3.722853	0.53211	23.3	0.99801365832489319	0.88639	0.99146	0.91905	D	AEFBI	0.877918	0.80286	D	0.529340372304536	0.68833	5.271924	0.581489057250946	0.73612	5.999277	0.999999961098423	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.88	5.88	0.94564	8.806000	0.91549	11.220000	0.89740	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.949	0.79609	893	0.26510	EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	93.16	33	chr2	169157427	.	A	G	93.16	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.279;DP=335;ExcessHet=0;FS=16.561;InbreedingCoeff=-0.1708;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.58;ReadPosRankSum=-0.116;SOR=3.229	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:49:.:.:0,49,686:.	6	0	1	3
chr2	169157429	169157437	AAATCCTCC	-	exonic	LRP2	.	nonframeshift deletion	LRP2:NM_004525:exon64:c.11953_11961del:p.G3985_F3987del	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	87.39	43	chr2	169157428	.	TAAATCCTCC	T	87.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.85;DP=458;ExcessHet=0;FS=17.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.24;ReadPosRankSum=0;SOR=3.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1620:.	9	0	1	0
chr2	169157437	169157437	-	GGGGGGTGG	exonic	LRP2	.	nonframeshift insertion	LRP2:NM_004525:exon64:c.11952_11953insCCACCCCCC:p.E3984_G3985insPPP	Donnai-Barrow syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	100.01	28	chr2	169157437	.	C	CGGGGGGTGG	100.01	.	AC=1;AF=0.056;AN=18;DP=250;ExcessHet=0;FS=21.021;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=4.35;ReadPosRankSum=0.487;SOR=3.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:28:.:.:0,28,535:.	8	0	1	1
chr2	169875919	169875919	A	C	exonic	UBR3	.	nonsynonymous SNV	UBR3:NM_172070:exon3:c.A814C:p.N272H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0185776572275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445e-06	1.368e-06	1.424e-06	1.466e-06	.	2.4e-07	9e-08	.	.	0	0	0	0	2.044e-05	0	0	1.742e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.03	0.54159	D	0.567	0.38485	P	0.332	0.42135	B	.	.	.	.	0.702419	0.30091	N	0.975	0.24501	L	0.4	0.57261	T	-2.7	0.57599	D	0.269	0.30574	-1.0183	0.24269	T	0.134	0.44720	T	9	0.21793261	0.38420	T	0.018578	0.40690	T	0.183	0.45592	0.41	0.44559	0.110392049598	0.10638	0.5373335498507179	0.53658	1.45782429626	0.86289	0.667162716389	0.62433	T	0.278712	0.65137	T	-0.100098	0.36408	T	-0.381561	0.35541	T	0.91964054107666	0.57843	D	0.941106	0.78031	D	0.16316369	0.36439	0.19743982	0.43526	0.16316369	0.36439	0.19743982	0.43525	-5.085	0.37748	T	.	.	0.165	0.36653	B	.;.	.;.	4.310857	0.65896	24.9	0.99628451470282542	0.75898	0.99129	0.91652	D	AEFBI	0.702884	0.65910	D	0.116038185299455	0.47212	2.949998	0.20596357688075	0.50179	3.212603	0.999868832723293	0.44398	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.22	4.06	0.46572	7.036000	0.76250	11.153000	0.87408	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9258:0.0:0.0742:0.0	10.995	0.46786	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	284.43	39	chr2	169875919	.	A	C	284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.314;DP=280;ExcessHet=0;FS=2.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=0.937;SOR=0.83	GT:AD:DP:GQ:PL	0/0:17,0:17:42:0,42,630	9	0	1	0
chr2	170770929	170770929	G	T	exonic	ERICH2	.	nonsynonymous SNV	ERICH2:NM_001290030:exon1:c.G248T:p.W83L,ERICH2:NM_001290031:exon1:c.G248T:p.W83L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs986151868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0078	0.0077	0.0073	0.0264	0.0071	0.0070	0.0250	0.0245	0.0264	0	0.0025	0	0	0	0	6.083e-05	0.0055	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	72.68	1	chr2	170770929	.	G	T	72.68	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.674;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-1.15;SOR=0.446	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,33	4	0	1	5
chr2	171966438	171966438	C	T	exonic	HAT1	.	nonsynonymous SNV	HAT1:NM_003642:exon7:c.C641T:p.T214M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0231624257669	7.7e-05	.	8.242e-05	9.615e-05	0	0	0	2.998e-05	0	0.0004	6.47e-05	10	154602	rs375753557	5.61e-05	5.747e-05	3.451e-05	7.784e-05	0.0007	4.6e-05	4.207e-05	0.0006	0.0005	0	0	0	2.524e-05	0	0.0003	1.278e-05	5.02e-05	0.0007	3.286e-05	3.283e-05	1.285e-05	5.38e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.977e-05	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.216	0.19225	T	0.221	0.25827	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	-2.28	0.50830	N	0.763	0.76111	-0.1963	0.77767	T	0.387	0.74217	T	9	0.48745206	0.60793	T	0.023162	0.46105	T	0.160	0.41473	.	.	0.564004061608	0.56063	0.6856347151033242	0.68503	0.931458184894	0.71834	0.777150154114	0.78499	T	.	.	.	-0.224184	0.17427	T	-0.203424	0.54322	T	0.549234628677368	0.34449	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.12891	B	.	.	6.374914	0.95105	34	0.99820254891654925	0.90326	0.98335	0.81744	D	AEFBI	0.928578	0.91300	D	0.718365987096201	0.80834	7.38347	0.709872878300226	0.83128	7.941247	0.999999991508476	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.05	0.67566	7.905000	0.86479	7.728000	0.67649	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9329:0.0:0.0671	15.314	0.73767	495	0.76383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1429.43	34	chr2	171966438	.	C	T	1429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.008;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.866;SOR=0.733	GT:AD:DP:GQ:PL	0/1:56,66:122:99:1441,0,1154	9	0	1	0
chr2	172077799	172077799	A	G	exonic	METAP1D	.	nonsynonymous SNV	METAP1D:NM_001322278:exon7:c.A353G:p.H118R,METAP1D:NM_001322279:exon7:c.A353G:p.H118R,METAP1D:NM_199227:exon7:c.A707G:p.H236R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0107931487526	.	.	8.265e-06	0	0	0	0	0	0	6.114e-05	6.5e-06	1	154602	rs745620172	4.869e-06	6.157e-06	4.159e-06	5.585e-06	1.186e-05	2.03e-06	1.3e-06	1.97e-06	1.3e-06	0	0	0	0	0	0	5.488e-06	0	1.186e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.672	0.04534	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.387542	0.13302	N	0.777035	0.999997	0.08975	N	-1.04	0.01097	N	-0.93	0.75215	T	0.24	0.04533	N	0.057	0.02861	-0.9590	0.39368	T	0.092	0.35119	T	10	0.028318495	0.00966	T	0.010793	0.27726	T	0.144	0.38394	.	.	0.202086224978	0.19791	0.5129540816148069	0.51217	0.172204701602	0.19394	0.253429889679	0.04138	T	0.03836	0.24810	T	-0.333755	0.05832	T	-0.614249	0.11642	T	0.00535751362842726	0.00058	T	0.467453	0.13767	T	0.043385457	0.06752	0.053848263	0.09150	0.043385457	0.06751	0.053848263	0.09150	-1.888	0.02785	T	.	.	0.053	0.00259	B	.	.	-0.495454	0.01881	0.154	0.66253408713841033	0.08005	0.06082	0.12055	N	AEFBI	0.039274	0.05682	N	-1.10770757586583	0.06505	0.2996382	-0.962826489889991	0.10627	0.5364134	0.994706336217439	0.33762	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.63	-2.38	0.06243	-0.164000	0.09972	0.075000	0.14313	-0.053000	0.16966	0.002000	0.15269	0.000000	0.08366	0.980000	0.58198	0.3321:0.1034:0.5646:0.0	10.4	0.43409	789	0.46346	Peptidase M24	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	678.43	38	chr2	172077799	.	A	G	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=378;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-1.469;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,971	9	0	1	0
chr2	172472890	172472890	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_001316306:exon5:c.G418A:p.G140S	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	9	1496	17	0	0	17	0.00564972	0.9830	0.826	.	3217787	ITGA6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.733	.	0.0024	0.013778	0.0105	0.0066	0.0101	0.0349	0	0.0005	0.0081	0.0433	0.0088744	1372	154602	rs74728869	0.0045	0.0044	0.0033	0.0056	0.0428	0.0044	0.0043	0.0417	0.0412	0.0073	0.0089	0.0054	0.0369	7.651e-05	0.0032	0.0001	0.0054	0.0428	0.0052	0.0052	0.0043	0.0062	0.0398	0.0049	0.0048	0.0352	0.0335	0.0074	0	0.0044	0.0058	0.0359	0	0.0034	0.0001	0.0052	0.0398	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.61	0.53516	T	-5.59	0.87760	D	0.817	0.91736	-0.5395	0.67182	T	0.159	0.49279	T	9	0.01030463	0.00230	T	0.148491	0.83040	D	0.733	0.90677	.	.	.	.	.	.	.	.	.	.	.	0.710074	0.91723	D	-0.0414729	0.45731	T	0.199067	0.83076	D	0.0785549693892789	0.09801	T	0.998091	0.99218	D	0.4176576	0.61936	0.44403628	0.67599	0.3356971	0.55934	0.44403628	0.67600	-12.317	0.86440	D	.	.	0.968	0.91905	P	.;.;.	.;.;.	3.455048	0.48129	22.6	0.99873236147270605	0.95076	0.99159	0.92098	D	AEFDBI	0.925838	0.90600	D	0.800498332863108	0.86136	8.789886	0.813540585513909	0.90720	10.53671	0.999999999999999	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	9.247000	0.94616	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.762	0.96317	752	0.51611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	1703.14	36	chr2	172472890	.	G	A	1703.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.684;DP=399;ExcessHet=0.2348;FS=3.553;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=2.04;SOR=1.074	GT:AD:DP:GQ:PL	0/1:18,33:51:99:879,0,386	8	0	2	0
chr2	173048607	173048607	T	C	exonic	RAPGEF4	.	nonsynonymous SNV	RAPGEF4:NM_001282901:exon24:c.T2201C:p.I734T,RAPGEF4:NM_001282900:exon26:c.T2348C:p.I783T,RAPGEF4:NM_001100397:exon27:c.T2429C:p.I810T,RAPGEF4:NM_001282899:exon27:c.T2402C:p.I801T,RAPGEF4:NM_001375872:exon27:c.T2657C:p.I886T,RAPGEF4:NM_001375873:exon27:c.T2654C:p.I885T,RAPGEF4:NM_001375867:exon28:c.T2768C:p.I923T,RAPGEF4:NM_001375869:exon28:c.T2708C:p.I903T,RAPGEF4:NM_001375871:exon28:c.T2660C:p.I887T,RAPGEF4:NM_001375866:exon29:c.T2807C:p.I936T,RAPGEF4:NM_001375868:exon29:c.T2714C:p.I905T,RAPGEF4:NM_001375864:exon30:c.T2831C:p.I944T,RAPGEF4:NM_001375865:exon30:c.T2828C:p.I943T,RAPGEF4:NM_007023:exon30:c.T2861C:p.I954T	.	.	.	.	.	.	.	.	.	.	.	2785361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.583	0.0760909413284	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs760152592	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.005	0.72224	D	0.992	0.67487	D	0.917	0.66466	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	1.3	0.35590	T	-3.05	0.63438	D	0.959	0.97426	-0.5348	0.67360	T	0.245	0.61424	T	10	0.85795105	0.85000	D	0.076091	0.72447	D	0.583	0.83249	0.693	0.83032	0.711326786032	0.70880	0.7203565194129034	0.71978	1.08851854009	0.77370	0.858810484409	0.90935	D	0.559511	0.85230	D	0.247011	0.78320	D	0.117038	0.78039	D	0.972025036811829	0.69540	D	0.962504	0.91674	D	0.39921647	0.60678	0.3863669	0.63530	0.39921647	0.60679	0.3863669	0.63530	-9.864	0.77590	D	.	.	0.830	0.78726	P	.;.;.;.;.;.	.;.;.;.;.;.	4.894626	0.80387	27.3	0.99797642882738358	0.88283	0.94535	0.61480	D	AEFGBHCI	0.904237	0.85429	D	0.819804792554347	0.87329	9.180119	0.796872263212995	0.89574	10.03178	0.999999999999984	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.466023	0.07079	0	.	.	5.82	5.82	0.92740	6.902000	0.75519	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:0.0:1.0	16.171	0.81632	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.;.;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	42.43	41	chr2	173048607	.	T	C	42.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.754;DP=440;ExcessHet=0;FS=48.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.409;SOR=5.547	GT:AD:DP:GQ:PL	0/0:42,0:42:63:0,63,1004	9	0	1	0
chr2	174401031	174401031	A	G	exonic	SCRN3	.	nonsynonymous SNV	SCRN3:NM_001193528:exon4:c.A362G:p.N121S,SCRN3:NM_024583:exon4:c.A383G:p.N128S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00477297607197	.	.	8.646e-06	0	0	0	0	0	0	6.309e-05	6.5e-06	1	154602	rs764672196	8.895e-06	8.893e-06	5.447e-06	1.238e-05	0.0002	4.96e-06	3.83e-06	8.887e-05	7.054e-05	0	0	0	0	0	0	0	0	0.0002	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.083	0.40319	T	0.137	0.37449	T	0.002	0.09854	B	0.004	0.10090	B	0.018745	0.27412	N	0.458936	0.999989	0.18198	N	1	0.25136	L	2.02	0.28391	T	-1.0	0.26422	N	0.078	0.05287	-1.0339	0.19205	T	0.043	0.18659	T	10	0.08091611	0.13187	T	0.004773	0.11910	T	0.043	0.11576	0.354	0.35408	0.117506650769	0.11410	0.21891696432528143	0.21807	0.0259932616328	0.02658	0.296373307705	0.09863	T	0.016434	0.13584	T	-0.380567	0.03091	T	-0.602907	0.12568	T	0.182500556111336	0.19392	T	0.863014	0.64256	D	0.055044517	0.10644	0.050946604	0.08100	0.055044517	0.10644	0.050946604	0.08099	-4.087	0.25098	T	.	.	0.074	0.05274	B	.;.;.;.;.	.;.;.;.;.	1.648420	0.21035	15.02	0.98945118583280722	0.49016	0.36360	0.25515	N	AEFDBHI	0.149530	0.27364	N	-0.359686911296167	0.26918	1.47285	-0.212401746970585	0.31090	1.75628	0.996621075447045	0.34876	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.57	4.42	0.52775	2.238000	0.42719	-0.020000	0.12938	0.672000	0.70159	0.114000	0.23067	0.000000	0.08366	0.970000	0.54328	0.6112:0.127:0.1398:0.1221	2.527	0.04408	886	0.28090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1254.43	33	chr2	174401031	.	A	G	1254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.117;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.023;SOR=0.643	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1078	9	0	1	0
chr2	174877872	174877872	A	G	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.T568C:p.S190P,CHN1:NM_001822:exon6:c.T517C:p.S173P,CHN1:NM_001025201:exon7:c.T517C:p.S173P,CHN1:NM_001371513:exon7:c.T517C:p.S173P	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00971293752588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.18956	T	0.636	0.22223	T	0.0	0.02946	B	0.0	0.01387	B	0.001505	0.38793	N	0.293171	0.927389	0.28103	N	0.29	0.10111	N	-0.53	0.70833	T	0.02	0.06739	N	0.158	0.20660	-1.0073	0.27758	T	0.121	0.42144	T	10	0.06453401	0.08574	T	0.009713	0.25359	T	0.105	0.29889	0.13	0.03494	0.189391138174	0.18552	0.45990922740007306	0.45908	0.383010385503	0.39639	0.364439934492	0.20031	T	0.126808	0.45344	T	-0.166693	0.25735	T	-0.47722	0.24743	T	0.160416468977928	0.17902	T	0.59504	0.22051	T	0.059358742	0.12056	0.093377955	0.22053	0.059358742	0.12055	0.093377955	0.22052	-4.725	0.33705	T	0.13295950786831912	0.14224	0.067	0.06617	B	.;.	.;.	2.259678	0.28873	17.94	0.96358614089746109	0.29543	0.77860	0.38334	D	AEFDBHIJ	0.413340	0.48305	N	-0.602177408634255	0.18879	0.9836912	-0.367900267159008	0.25960	1.430927	0.999999985842153	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	3.51	0.39297	4.126000	0.57691	3.862000	0.40142	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.733:0.1795:0.0875:0.0	7.125	0.24643	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	87.43	37	chr2	174877872	.	A	G	87.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.924;DP=403;ExcessHet=0;FS=34.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.285;SOR=5.283	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1211	9	0	1	0
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N,CHN1:NM_001822:exon6:c.G514A:p.D172N,CHN1:NM_001025201:exon7:c.G514A:p.D172N,CHN1:NM_001371513:exon7:c.G514A:p.D172N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	329.05	76	chr2	174877875	.	C	T	329.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.755;DP=712;ExcessHet=0;FS=124.89;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=2.03;SOR=7.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:74:.:.:0,74,1228:.	8	0	1	1
chr2	176169227	176169227	C	T	exonic	HOXD3	.	nonsynonymous SNV	HOXD3:NM_006898:exon3:c.C113T:p.T38M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.125538777739	0.0020	0.00239617	0.0010	0.0069	0.0007	0.0001	0	0.0001	0	0.0018	0.0008732	135	154602	rs75250034	0.0004	0.0004	0.0004	0.0004	0.0067	0.0004	0.0004	0.0059	0.0057	0.0067	0.0007	7.652e-05	0	0	0.0002	0.0002	0.0006	0.0016	0.0021	0.0021	0.0021	0.0021	0.0069	0.0019	0.0018	0.0063	0.0060	0.0069	0	0.0012	0	0.0002	0	0.0034	0.0001	0.0005	0.0008	0.007	0.63226	D	0.017	0.60337	D	0.245	0.31074	B	0.095	0.30245	B	0.004259	0.33945	N	0.348948	0.994977	0.23401	N	1.445	0.36358	L	-2.47	0.88997	D	-2.07	0.47344	N	0.339	0.39153	-0.4773	0.69465	T	0.346	0.71083	T	10	0.008280486	0.00188	T	0.125539	0.80707	D	0.296	0.61616	.	.	0.894152575574	0.89310	0.28164369580082327	0.28077	.	.	0.364167243242	0.19991	T	0.342794	0.71152	T	-0.309033	0.07833	T	-0.213095	0.53399	T	0.0150988276773107	0.00327	T	0.822518	0.48242	T	0.061668914	0.12795	0.0852064	0.19658	0.061668914	0.12795	0.0852064	0.19657	-3.691	0.19185	T	.	.	0.119	0.26794	B	.;.;.	.;.;.	3.139192	0.42451	21.5	0.99801618769258038	0.88639	0.50390	0.28652	D	AEFBI	0.389186	0.46850	N	-0.36409199744194	0.26757	1.462778	-0.243420437521962	0.29997	1.685314	0.97045366423147	0.29209	0.646311	0.45356	0	0.59043	0.45803	0	0.563428	0.18855	0	0.699875	0.68795	0	.	.	5.32	4.43	0.52967	2.157000	0.41946	4.794000	0.44921	0.599000	0.40250	0.013000	0.18845	0.994000	0.32194	0.558000	0.30364	0.0:0.8281:0.1719:0.0	12.198	0.53618	515	0.74782	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1394.43	42	chr2	176169227	.	C	T	1394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.966;DP=462;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.575;SOR=0.616	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1232	9	0	1	0
chr2	177392824	177392824	G	A	exonic	AGPS	.	nonsynonymous SNV	AGPS:NM_003659:exon1:c.G35A:p.G12D	Rhizomelic chondrodysplasia punctata, type 3, Autosomal recessive	5	1503	14	0	0	14	0.00463576	.	.	.	283016	Rhizomelic_chondrodysplasia_punctata_type_3|not_provided|not_specified	MONDO:MONDO:0010823,MedGen:C1838612,OMIM:600121,Orphanet:177,Orphanet:309803|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.347	.	.	0.00179712	0.0033	0.0014	0	0	0	0.0006	0.0231	0.0101	0.0006145	95	154602	rs557931141	0.0004	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	0	2.685e-05	0	0	0	0.0033	7.817e-05	0.0004	0.0048	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	0.0001	0	0.0052	0.311	0.91255	T	0.328	0.92824	T	0.028	0.19712	B	0.014	0.16862	B	0.928840	0.08435	N	0.952047	1	0.08975	N	1.39	0.34934	L	-4.33	0.97242	D	-0.28	0.11547	N	0.231	0.49420	-0.1427	0.79098	T	0.691	0.89320	D	10	0.0024509132	0.00037	T	.	.	.	0.347	0.66863	0.137	0.04097	0.695051798009	0.69242	0.4928378777701159	0.49204	1.13182881376	0.78647	0.797494888306	0.81582	T	0.195191	0.55120	T	-0.0811046	0.39535	T	0.112227	0.77721	D	0.0398290548181467	0.03660	T	0.343166	0.07474	T	0.0382736	0.05067	0.07876995	0.17672	0.05183874	0.09578	0.07722978	0.17182	-5.151	0.38439	T	.	.	0.133	0.32517	B	.;.	.;.	0.741857	0.11111	7.759	0.86008420692730092	0.16253	0.11042	0.16368	N	ALL	0.042326	0.06554	N	-1.36297270356734	0.02993	0.1329961	-1.38764558223396	0.03383	0.1576814	0.999999999999644	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.18	-0.0214	0.13277	0.874000	0.27715	0.191000	0.15744	0.248000	0.18312	0.054000	0.21560	0.006000	0.19429	0.201000	0.21925	0.0:0.5195:0.3045:0.176	7.662	0.27577	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001574	0.000000	0.000000	0.000000	0.000000	0.000000	0.003311	0.007692	0.1	686.12	34	chr2	177392824	.	G	A	686.12	.	AC=2;AF=0.1;AN=20;DP=289;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=26.39;SOR=1.445	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,875	9	1	0	0
chr2	177499691	177499691	A	G	exonic	AGPS	.	nonsynonymous SNV	AGPS:NM_003659:exon14:c.A1436G:p.Q479R	Rhizomelic chondrodysplasia punctata, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1916262	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.369	0.0327014318388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	4.088e-06	0	0.0003	5.5e-07	1.5e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.03880	T	0.701	0.05707	T	0.026	0.19406	B	0.036	0.22909	B	0.000011	0.62929	D	0.150853	1	0.81001	D	0.865	0.21413	L	-1.68	0.82897	D	-0.7	0.19933	N	0.812	0.80767	-0.5376	0.67254	T	0.370	0.72963	T	10	0.6296334	0.68441	D	0.032701	0.54453	D	0.369	0.68844	0.578	0.70347	0.969898019403	0.96957	0.8732682407748598	0.87292	0.957870985297	0.72893	0.832472681999	0.86941	D	0.32926	0.69958	T	0.258081	0.79352	D	0.132939	0.79085	D	0.788033902645111	0.45561	D	0.872513	0.57956	D	0.23501198	0.46331	0.25617936	0.51314	0.23501198	0.46331	0.25617936	0.51313	-5.183	0.38768	T	0.09296873588620802	0.06066	0.126	0.26731	B	.	.	3.272839	0.44810	22.0	0.96569127895937179	0.30290	0.98408	0.82470	D	AEFBI	0.917018	0.88403	D	0.0326527013517078	0.43345	2.629267	0.269396913686126	0.53761	3.543479	0.99999983443423	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.99	5.99	0.97299	8.765000	0.91371	9.289000	0.79777	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.145	0.81374	709	0.56835	FAD-linked oxidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	738.43	41	chr2	177499691	.	A	G	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.265;DP=414;ExcessHet=0;FS=1.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=1.01;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,994	9	0	1	0
chr2	178324247	178324247	C	T	exonic	OSBPL6	.	nonsynonymous SNV	OSBPL6:NM_145739:exon2:c.C110T:p.P37L,OSBPL6:NM_001201480:exon4:c.C173T:p.P58L,OSBPL6:NM_001201481:exon4:c.C173T:p.P58L,OSBPL6:NM_001201482:exon4:c.C173T:p.P58L,OSBPL6:NM_032523:exon4:c.C173T:p.P58L	.	430	1056	34	2	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0019	0.00698882	0.0087	0.0007	0.0021	0.0003	0	0.0045	0.0073	0.0305	0.0042884	663	154602	rs34874235	0.0037	0.0038	0.0031	0.0043	0.0243	0.0036	0.0036	0.0235	0.0231	0.0005	0.0012	0.0001	7.729e-05	5.868e-05	0.0097	0.0027	0.0037	0.0243	0.0023	0.0023	0.0022	0.0025	0.0247	0.0021	0.0021	0.0211	0.0197	0.0006	0	0.0012	0.0003	0.0002	0.0003	0	0.0027	0.0028	0.0247	0.022	0.65419	D	0.184	0.47336	T	0.065	0.29693	B	0.032	0.22741	B	0.136896	0.18431	N	0.560099	0.982406	0.40094	D	0	0.06538	N	1.25	0.36512	T	-1.14	0.38734	N	0.302	0.35194	-1.0895	0.05616	T	0.061	0.25635	T	10	0.0038985908	0.00074	T	.	.	.	0.025	0.05312	.	.	0.0675242888579	0.06100	0.2651952141909519	0.26432	0.343719139583	0.36299	0.414854466915	0.27127	T	0.013066	0.11369	T	-0.501483	0.00561	T	-0.474868	0.24994	T	0.00769843631727962	0.00090	T	0.957104	0.83854	D	0.07133131	0.15784	0.062420767	0.12208	0.07133131	0.15783	0.062420767	0.12208	-4.84	0.36655	T	.	.	0.071	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.386064	0.46858	22.4	0.99623548177428622	0.75594	0.55822	0.29961	D	AEFDBI	0.084559	0.17137	N	-0.0939410315234078	0.37659	2.194098	0.0889973802018762	0.43994	2.689787	0.998386936897328	0.36869	0.615465	0.37627	0	0.563428	0.19063	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.9	4.97	0.65419	1.533000	0.35645	.	.	0.599000	0.40250	0.891000	0.31220	1.000000	0.68203	0.711000	0.34484	0.2265:0.6504:0.1231:0.0	10.481	0.43878	322	0.86904	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.006793	0.011696	0.000000	0.000000	0.015244	0.045455	0.05	794.43	34	chr2	178324247	.	C	T	794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.005;DP=376;ExcessHet=0;FS=2.235;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.55;SOR=1.087	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1083	9	0	1	0
chr2	178450414	178450414	-	AAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	exonic	PRKRA	.	stopgain	PRKRA:NM_001139517:exon1:c.29_30insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT:p.C10*	Dystonia 16, Autosomal recessive	1	1390	34	0	97	131	0.0120824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.942e-05	4.241e-05	3.131e-05	2.751e-05	5.397e-06	2.217e-05	1.97e-05	1.94e-06	1.28e-06	0	0	3.826e-05	0	0.0007	0	5.397e-06	1.656e-05	0	0.0020	0.0032	0.0019	0.0020	0.0029	0.0018	0.0017	0.0018	0.0015	0.0019	0.0044	0.0024	0.0020	0.0015	0.0023	0	0.0018	0.0033	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	6475.1	35	chr2	178450414	.	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	6475.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.51;DP=861;ExcessHet=0.2348;FS=1.231;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-5.222;SOR=0.838	GT:AD:DP:GQ:PL	0/1:156,57:213:99:1903,0,6341	8	0	2	0
chr2	178527550	178527550	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon190:c.T80381C:p.M26794T,TTN:NM_133432:exon191:c.T80756C:p.M26919T,TTN:NM_133437:exon191:c.T80957C:p.M26986T,TTN:NM_133378:exon311:c.T99872C:p.M33291T,TTN:NM_001256850:exon312:c.T102653C:p.M34218T,TTN:NM_001267550:exon362:c.T107576C:p.M35859T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1491	30	0	0	30	0.00996016	.	.	YES	56884	Cardiomyopathy|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1G|not_provided|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|TTN-related_disorder|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|.|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.398	.	0.0011	0.00219649	0.0022	0.0002	0.0003	0	0.0002	0.0016	0.0044	0.0093	0.0019987	309	154602	rs72629793	0.0013	0.0013	0.0010	0.0016	0.0099	0.0013	0.0012	0.0094	0.0092	0.0002	0.0002	0.0090	0.0002	5.618e-05	0.0064	0.0006	0.0022	0.0099	0.0010	0.0010	0.0008	0.0011	0.0112	0.0009	0.0008	0.0088	0.0080	7.213e-05	0	0	0.0089	0.0004	0	0	0.0008	0.0014	0.0112	0.009	0.58626	D	.	.	.	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.820675	0.35804	D	0.55	0.14455	N	-0.1	0.64264	T	-2.73	0.58085	D	0.729	0.76946	-0.8893	0.48995	T	0.141	0.46072	T	9	0.00726828	0.00165	T	.	.	.	0.398	0.71242	.	.	0.615614480955	0.61251	.	.	0.0968877573739	0.10942	0.604412436485	0.53527	T	.	.	.	-0.144099	0.29240	T	0.0266331	0.72058	D	0.0309438198874612	0.02137	T	0.664234	0.27311	T	.	.	.	.	.	.	.	.	-4.129	0.25716	T	.	.	0.436	0.61490	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.207637	0.28159	17.71	0.83464716704103281	0.14740	0.94805	0.62390	D	AEFDBCI	0.834171	0.75226	D	-0.273761059275001	0.30164	1.679445	-0.0634768986456481	0.36913	2.154379	0.999999989243797	0.74766	0.554377	0.28877	0	0.516746	0.08562	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.77	4.62	0.56946	5.583000	0.67179	.	.	-0.050000	0.17177	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9261:0.0:0.0739:0.0	10.371	0.43238	348	0.85549	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.000000	0.015244	0.007576	0.05	1696.43	36	chr2	178527550	.	A	G	1696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.822;DP=487;ExcessHet=0;FS=3.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.167;SOR=0.99	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1309	9	0	1	0
chr2	178532588	178532588	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.C76832G:p.T25611R,TTN:NM_133432:exon187:c.C77207G:p.T25736R,TTN:NM_133437:exon187:c.C77408G:p.T25803R,TTN:NM_133378:exon307:c.C96323G:p.T32108R,TTN:NM_001256850:exon308:c.C99104G:p.T33035R,TTN:NM_001267550:exon358:c.C104027G:p.T34676R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	391712	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0143442458094	.	.	8.289e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs761644963	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0002	2.35e-06	1.7e-06	2.375e-05	1.258e-05	8.962e-05	0	0	0	0	0.0002	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	0.966	0.56202	D	0.691	0.53831	P	.	.	.	.	0.997761	0.44171	D	0	0.06538	N	-0.13	0.64818	T	-3.82	0.71997	D	0.367	0.66873	-0.6711	0.61779	T	0.212	0.57281	T	9	0.24972862	0.42289	T	0.014344	0.34391	T	0.222	0.51872	0.154	0.05752	0.589902427684	0.58666	.	.	0.33750089548	0.35739	0.732467412949	0.71867	T	.	.	.	0.0161536	0.53862	T	-0.214573	0.53257	T	0.430230840678981	0.30069	T	0.89721	0.64352	D	.	.	.	.	.	.	.	.	0.296	0.00260	T	.	.	0.386	0.58762	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.571659	0.33327	19.31	0.83679626179484357	0.14859	0.94339	0.60850	D	AEFBCI	.	.	.	0.551497858219011	0.70175	5.462864	0.639675580003946	0.77845	6.758255	0.999999998844679	0.74766	0.581397	0.33459	0	0.519925	0.08708	0	0.565031	0.19037	0	0.711	0.71501	0	.	.	6.08	6.08	0.98982	5.097000	0.64376	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0717:0.0:0.9283:0.0	13.470	0.60731	368	0.84463	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2560.43	123	chr2	178532588	.	G	C	2560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.79;DP=882;ExcessHet=0;FS=1.306;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.256;SOR=0.566	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	9	0	1	0
chr2	178546467	178546467	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.G67669A:p.G22557S,TTN:NM_133432:exon171:c.G68044A:p.G22682S,TTN:NM_133437:exon171:c.G68245A:p.G22749S,TTN:NM_133378:exon291:c.G87160A:p.G29054S,TTN:NM_001256850:exon292:c.G89941A:p.G29981S,TTN:NM_001267550:exon342:c.G94864A:p.G31622S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	881749	Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.0156708395737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1385680314	2.054e-06	2.052e-06	2.724e-06	1.376e-06	2.523e-05	5.5e-07	1.5e-07	.	.	0	0	0	2.523e-05	0	0	8.999e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.15823	T	.	.	.	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	-0.41	0.02942	N	0.11	0.61208	T	-3.37	0.73579	D	0.475	0.79310	-0.5000	0.68650	T	0.282	0.65419	T	9	0.23290831	0.40296	T	0.015671	0.36531	T	0.330	0.65226	0.385	0.40460	0.236890367714	0.23314	.	.	0.463496485926	0.45855	0.621686816216	0.55968	T	.	.	.	-0.0397531	0.45986	T	-0.294879	0.45264	T	0.783080078905042	0.45243	D	0.863414	0.55914	D	.	.	.	.	.	.	.	.	-3.604	0.17915	T	.	.	0.098	0.16054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.226476	0.43984	21.8	0.93951509485266727	0.24014	0.97811	0.77307	D	AEFBI	0.698830	0.65638	D	0.642078703756432	0.75859	6.380669	0.701103648894472	0.82462	7.773091	0.999999999999994	0.74766	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	6.03	6.03	0.97798	4.944000	0.63262	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	20.567	0.99354	484	0.77165	.;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1292.43	33	chr2	178546467	.	C	T	1292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=476;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.403;SOR=0.572	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	9	0	1	0
chr2	178546480	178546480	A	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.T67656A:p.D22552E,TTN:NM_133432:exon171:c.T68031A:p.D22677E,TTN:NM_133437:exon171:c.T68232A:p.D22744E,TTN:NM_133378:exon291:c.T87147A:p.D29049E,TTN:NM_001256850:exon292:c.T89928A:p.D29976E,TTN:NM_001267550:exon342:c.T94851A:p.D31617E	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	2	1486	32	2	0	36	0.0119681	.	.	.	56709	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_specified|Cardiomyopathy|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0386268382034	0.0026	0.00179712	0.0029	0.0007	0.0056	0	0	0.0038	0.0023	0.0014	0.0029236	452	154602	rs72648256	0.0029	0.0029	0.0029	0.0029	0.0217	0.0028	0.0028	0.0186	0.0175	0.0006	0.0058	0.0096	0	0.0003	0.0217	0.0028	0.0054	0.0010	0.0030	0.0030	0.0032	0.0028	0.0058	0.0027	0.0027	0.0048	0.0045	0.0007	0.0724	0.0058	0.0089	0	0.0005	0.0204	0.0030	0.0066	0.0019	0.077	0.53172	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	0.999917	0.52396	D	2.37	0.68279	M	-0.6	0.72889	T	-2.75	0.65397	D	0.344	0.63544	-0.0816	0.80518	T	0.475	0.79862	T	9	0.0069538355	0.00158	T	0.038627	0.58335	D	0.362	0.68230	0.414	0.45216	0.456738291233	0.45297	.	.	0.446550992324	0.44524	0.683138608932	0.64719	T	.	.	.	-0.355689	0.04380	T	-0.281365	0.46664	T	0.0569647524834986	0.06682	T	0.846715	0.53348	T	.	.	.	.	.	.	.	.	-5.637	0.43129	T	.	.	0.549	0.66730	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.244476	0.16405	12.52	0.9353988724361828	0.23366	0.94583	0.61639	D	AEFBI	0.621735	0.60632	D	0.621269056086818	0.74523	6.146958	0.589645623696016	0.74194	6.096106	0.999789397888448	0.43007	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	6.03	4.88	0.63131	4.287000	0.58794	.	.	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.993000	0.69303	0.8609:0.0:0.1391:0.0	9.145	0.36089	484	0.77165	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020141	0.030303	0.031250	0.026316	0.000000	0.017241	0.006098	0.000000	0.05	1777.43	33	chr2	178546480	.	A	T	1777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.37;DP=602;ExcessHet=0;FS=0.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.763;SOR=0.641	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	9	0	1	0
chr2	178569180	178569180	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.T49757C:p.V16586A,TTN:NM_133432:exon155:c.T50132C:p.V16711A,TTN:NM_133437:exon155:c.T50333C:p.V16778A,TTN:NM_133378:exon275:c.T69248C:p.V23083A,TTN:NM_001256850:exon276:c.T72029C:p.V24010A,TTN:NM_001267550:exon326:c.T76952C:p.V25651A	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	YES	198999	not_provided|Cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.318	0.0286275876135	8.3e-05	.	4.163e-05	0	0	0	0	7.516e-05	0	0	3.23e-05	5	154602	rs370768049	6.85e-06	6.84e-06	8.176e-06	5.509e-06	0.0005	3.46e-06	2.53e-06	0.0001	7.57e-05	0	0	0	0	0	0.0005	6.3e-06	0	0	1.315e-05	1.313e-05	0	2.692e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.063	0.91255	T	.	.	.	0.996	0.68779	D	0.914	0.64984	D	.	.	.	.	0.999999	0.58761	D	2.305	0.65957	M	0.43	0.56772	T	-2.8	0.59226	D	0.466	0.65844	-0.3849	0.72500	T	0.321	0.69004	T	9	0.3269905	0.49988	T	0.028628	0.51275	D	0.318	0.64008	.	.	0.595842844361	0.59262	.	.	0.425013203818	0.42916	0.650216460228	0.60017	T	.	.	.	-0.0274259	0.47791	T	-0.213526	0.53358	T	0.211096656379681	0.21011	T	0.793221	0.45757	T	.	.	.	.	.	.	.	.	-6.905	0.53336	T	.	.	0.250	0.48458	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.993896	0.39977	21.1	0.88603465294668438	0.18107	0.99116	0.91460	D	AEFBI	0.928654	0.91320	D	0.827333270315347	0.87782	9.339007	0.835577308591545	0.92146	11.26139	0.999999944914961	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.54472	0.12158	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.371	0.83191	434	0.80536	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2202.43	115	chr2	178569180	.	A	G	2202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=975;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.861;SOR=0.675	GT:AD:DP:GQ:PL	0/0:129,0:129:99:0,120,1800	9	0	1	0
chr2	178576568	178576568	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon153:c.A42481G:p.S14161G,TTN:NM_133432:exon154:c.A42856G:p.S14286G,TTN:NM_133437:exon154:c.A43057G:p.S14353G,TTN:NM_133378:exon274:c.A61972G:p.S20658G,TTN:NM_001256850:exon275:c.A64753G:p.S21585G,TTN:NM_001267550:exon325:c.A69676G:p.S23226G	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1468	51	3	0	57	0.0190444	.	.	.	56440	Cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Hypertrophic_cardiomyopathy|Ventricular_tachycardia|Familial_dilated_cardiomyopathy_and_peripheral_neuropathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_specified|TTN-related_disorder|Cardiovascular_phenotype|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|.|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.566	.	0.0066	0.00299521	0.0075	0.0014	0.0047	0	0.0018	0.0095	0.0111	0.0110	0.0073091	1130	154602	rs72646885	0.0072	0.0072	0.0069	0.0075	0.0170	0.0070	0.0070	0.0143	0.0133	0.0015	0.0048	0.0314	0	0.0029	0.0170	0.0068	0.0092	0.0116	0.0057	0.0057	0.0061	0.0054	0.0087	0.0054	0.0053	0.0074	0.0072	0.0013	0	0.0044	0.0331	0	0.0021	0.0306	0.0080	0.0095	0.0087	0.008	0.91255	D	.	.	.	0.999	0.77913	D	0.992	0.80445	D	.	.	.	.	0.999978	0.58761	D	3.555	0.93317	H	-0.51	0.70597	T	-2.99	0.64710	D	0.441	0.67650	0.109	0.84332	D	0.478	0.80037	T	9	0.004576355	0.00095	T	.	.	.	0.566	0.82289	.	.	0.376039117802	0.37211	.	.	0.443632335628	0.44285	0.520653069019	0.41718	T	.	.	.	-0.274401	0.11271	T	-0.156547	0.58661	T	0.0732738689586987	0.09103	T	0.791621	0.43272	T	.	.	.	.	.	.	.	.	-10.119	0.74621	D	.	.	0.368	0.57720	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.495148	0.70253	25.5	0.83750850580813474	0.14899	0.97136	0.72900	D	AEFBI	0.888384	0.82145	D	0.649867181465855	0.76361	6.472145	0.554012187497778	0.71676	5.691424	0.99518412355579	0.33994	0.553676	0.25195	0	0.601575	0.49859	0	0.463624	0.06942	0	0.620846	0.47308	0	.	.	5.72	4.57	0.55860	7.969000	0.87564	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0682:0.0:0.9317	11.877	0.51835	432	0.80690	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.005051	0.014946	0.017544	0.000000	0.025862	0.012195	0.011364	0.05	2113.43	113	chr2	178576568	.	T	C	2113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.176;DP=783;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.319;SOR=0.74	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	9	0	1	0
chr2	178584459	178584459	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon139:c.C37897T:p.R12633C,TTN:NM_133432:exon140:c.C38272T:p.R12758C,TTN:NM_133437:exon140:c.C38473T:p.R12825C,TTN:NM_133378:exon260:c.C57388T:p.R19130C,TTN:NM_001256850:exon261:c.C60169T:p.R20057C,TTN:NM_001267550:exon311:c.C65092T:p.R21698C	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1470	49	2	0	53	0.017708	.	.	.	56381	not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Cardiomyopathy|not_provided|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.360	.	0.0019	0.0129792	0.0088	0.0002	0.0022	0.0192	0.0006	0.0036	0.0089	0.0377	0.0079624	1231	154602	rs72646861	0.0045	0.0045	0.0034	0.0055	0.0352	0.0044	0.0043	0.0342	0.0338	0.0006	0.0017	0.0198	0.0151	0.0002	0.0161	0.0016	0.0064	0.0352	0.0035	0.0035	0.0030	0.0041	0.0342	0.0033	0.0032	0.0299	0.0283	0.0005	0.0044	0.0014	0.0185	0.0199	0.0005	0.0068	0.0020	0.0057	0.0342	0.053	0.78490	T	.	.	.	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	1	0.81001	D	2.68	0.78455	M	0.52	0.55266	T	-6.03	0.89722	D	0.496	0.81360	-0.4509	0.70370	T	0.239	0.60726	T	9	0.006336957	0.00143	T	.	.	.	0.360	0.68052	.	.	0.612662979051	0.60954	.	.	0.517476731111	0.49612	0.771674871445	0.77675	T	.	.	.	-0.33593	0.05674	T	-0.228856	0.51882	T	0.048045884679476	0.05151	T	0.945105	0.79487	D	.	.	.	.	.	.	.	.	-8.361	0.64785	D	.	.	0.366	0.57597	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.081587	0.60724	24.3	0.89618393577052835	0.18952	0.95943	0.66827	D	AEFDBI	0.897210	0.83913	D	0.849151916285406	0.89058	9.818826	0.840293287160525	0.92435	11.42541	0.999721983117602	0.42220	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	5.148000	0.64701	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.665	0.99682	416	0.81733	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014602	0.005051	0.010870	0.029240	0.050000	0.008621	0.009146	0.022727	0.05	2041.43	40	chr2	178584459	.	G	A	2041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=605;ExcessHet=0;FS=7.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-1.243;SOR=0.456	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	9	0	1	0
chr2	178587968	178587968	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon133:c.G36244A:p.A12082T,TTN:NM_133432:exon134:c.G36619A:p.A12207T,TTN:NM_133437:exon134:c.G36820A:p.A12274T,TTN:NM_133378:exon254:c.G55735A:p.A18579T,TTN:NM_001256850:exon255:c.G58516A:p.A19506T,TTN:NM_001267550:exon305:c.G63439A:p.A21147T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1509	12	0	0	12	0.0039604	.	.	.	172850	Tip-toe_gait|Early-onset_myopathy_with_fatal_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Primary_dilated_cardiomyopathy|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|not_provided|TTN-related_disorder|Cardiomyopathy|Cardiovascular_phenotype	Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.662	0.060071761413	8.3e-05	0.000798722	0.0008	0	0	0	0	0.0004	0.0025	0.0035	0.0005951	92	154602	rs72646853	0.0004	0.0004	0.0003	0.0006	0.0040	0.0004	0.0004	0.0037	0.0035	2.994e-05	8.997e-05	0.0003	2.54e-05	3.757e-05	0.0016	0.0002	0.0006	0.0040	0.0003	0.0003	0.0003	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	2.407e-05	0	0	0.0003	0	0	0	0.0004	0	0.0041	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	3.775	0.95212	H	-0.44	0.69777	T	-3.33	0.66206	D	0.659	0.75374	0.554	0.91288	D	0.656	0.88034	D	9	0.013289392	0.00282	T	0.060072	0.67879	D	0.662	0.87381	.	.	0.563544018958	0.56017	.	.	0.457598942377	0.45392	0.798892438412	0.81794	T	.	.	.	-0.0650879	0.42110	T	0.130993	0.78957	D	0.135726307329004	0.15901	T	0.955104	0.82903	D	.	.	.	.	.	.	.	.	-9.233	0.69286	D	.	.	0.826	0.78546	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.603461	0.50905	23.0	0.95132808160082727	0.26245	0.98992	0.89656	D	AEFBI	0.950012	0.96323	D	1.06637797746111	0.97460	16.16587	0.990588351698279	0.98437	18.277	0.999999999982724	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.78	5.78	0.91418	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.020	0.97498	404	0.82510	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	1717.43	39	chr2	178587968	.	C	T	1717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.68;DP=480;ExcessHet=0;FS=1.229;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.434;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	178590904	178590904	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon132:c.C33626T:p.P11209L,TTN:NM_133432:exon133:c.C34001T:p.P11334L,TTN:NM_133437:exon133:c.C34202T:p.P11401L,TTN:NM_133378:exon253:c.C53117T:p.P17706L,TTN:NM_001256850:exon254:c.C55898T:p.P18633L,TTN:NM_001267550:exon304:c.C60821T:p.P20274L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1486	34	2	0	38	0.0126246	.	.	.	56330	not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.390	.	0.0008	0.00299521	0.0038	0.0001	0.0010	0	0.0003	0.0022	0.0067	0.0174	0.0033376	516	154602	rs72646845	0.0021	0.0021	0.0016	0.0026	0.0169	0.0020	0.0020	0.0161	0.0158	0.0003	0.0009	0.0169	0	1.874e-05	0.0124	0.0008	0.0026	0.0169	0.0014	0.0014	0.0012	0.0016	0.0162	0.0012	0.0012	0.0133	0.0122	0.0001	0.0022	0.0006	0.0136	0	0.0005	0	0.0009	0.0009	0.0162	0.007	0.59928	D	.	.	.	0.997	0.70673	D	0.918	0.65394	D	.	.	.	.	1	0.81001	D	3.64	0.94097	H	0.24	0.59583	T	-6.76	0.93974	D	0.341	0.65587	0.134	0.84783	D	0.506	0.81396	D	9	0.008635849	0.00196	T	.	.	.	0.390	0.70603	.	.	0.642006589361	0.63905	.	.	0.425291972992	0.42939	0.54395455122	0.45004	T	.	.	.	-0.309934	0.07753	T	-0.203695	0.54296	T	0.100739449505409	0.12439	T	0.957404	0.86689	D	.	.	.	.	.	.	.	.	-7.325	0.56373	T	.	.	0.171	0.37615	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.500281	0.48969	22.7	0.92360516367864975	0.21763	0.97067	0.72497	D	AEFBI	0.913567	0.87572	D	0.980149752824681	0.95101	13.31065	0.936292240512815	0.96969	15.39783	0.99810308665216	0.36433	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	5.528000	0.66843	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.734	0.99718	409	0.82198	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2226.43	82	chr2	178590904	.	G	A	2226.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=544;ExcessHet=0;FS=2.081;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.601;SOR=0.509	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	9	0	1	0
chr2	178617362	178617362	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon82:c.G20528A:p.R6843H,TTN:NM_133432:exon83:c.G20903A:p.R6968H,TTN:NM_133437:exon83:c.G21104A:p.R7035H,TTN:NM_133378:exon203:c.G40019A:p.R13340H,TTN:NM_001256850:exon204:c.G42800A:p.R14267H,TTN:NM_001267550:exon254:c.G47723A:p.R15908H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1469	47	3	2	55	0.0177198	.	.	.	56180	Cardiomyopathy|not_specified|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Tibial_muscular_dystrophy|Hypertrophic_cardiomyopathy|Ventricular_tachycardia|TTN-related_disorder|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|.|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.368	.	0.0066	0.00299521	0.0113	0.0025	0.0103	0	0.0025	0.0146	0.0181	0.0142	0.0064359	995	154602	rs72677237	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0016	0.0051	0.0263	0	0.0027	0.0144	0.0062	0.0084	0.0110	0.0054	0.0054	0.0056	0.0051	0.0081	0.0051	0.0049	0.0070	0.0067	0.0014	0	0.0044	0.0274	0	0.0019	0.0306	0.0075	0.0090	0.0081	0.004	0.65419	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.44	0.70756	M	0.48	0.55945	T	-3.24	0.67477	D	0.433	0.72388	-0.4221	0.71323	T	0.293	0.66422	T	9	0.008752823	0.00198	T	.	.	.	0.368	0.68757	.	.	0.426551566703	0.42274	.	.	0.515550123524	0.49465	0.441975414753	0.30847	T	.	.	.	-0.309716	0.07773	T	-0.208267	0.53860	T	0.0243475309348374	0.01188	T	0.923708	0.72722	D	.	.	.	.	.	.	.	.	-7.748	0.60380	D	.	.	0.275	0.50889	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.806982	0.54888	23.5	0.95521441007536012	0.27141	0.98638	0.84997	D	AEFBI	0.928340	0.91241	D	0.892802544777714	0.91401	10.866	0.888614442682798	0.95058	13.27328	0.999999999999994	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.93	5.93	0.95888	7.858000	0.85341	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.351	0.98814	424	0.81215	.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016113	0.010101	0.016304	0.020468	0.000000	0.025862	0.015244	0.015152	0.05	1531.43	35	chr2	178617362	.	C	T	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=436;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.861;SOR=0.702	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1282	9	0	1	0
chr2	178650756	178650756	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon163:c.C32402G:p.P10801R,TTN:NM_001256850:exon164:c.C35183G:p.P11728R,TTN:NM_001267550:exon209:c.C39704G:p.P13235R	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	56094	Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_specified|Cardiomyopathy|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	.	0.0027	0.0393371	0.0306	0.0011	0.0060	0.1733	0.0345	0.0093	0.0292	0.0519	0.0160865	2487	154602	rs72650066	0.0092	0.0093	0.0082	0.0102	0.1324	0.0091	0.0090	0.1294	0.1281	0.0010	0.0021	0.0204	0.1324	0.0248	0.0181	0.0019	0.0140	0.0379	0.0096	0.0096	0.0080	0.0112	0.1243	0.0092	0.0090	0.1164	0.1132	0.0013	0.0044	0.0020	0.0196	0.1243	0.0241	0.0068	0.0029	0.0104	0.0377	0.22	0.30515	T	.	.	.	0.01	0.15535	B	0.01	0.14941	B	.	.	.	.	0.999584	0.38299	P	1.935	0.51832	L	-0.03	0.64630	T	-2.03	0.75297	N	0.088	0.14622	-1.0863	0.06173	T	0.001	0.00287	T	8	0.003309399	0.00057	T	.	.	.	0.104	0.29647	.	.	.	.	.	.	0.0905780317128	0.10218	0.281594097614	0.07715	T	.	.	.	-0.518947	0.00446	T	-0.388388	0.34741	T	0.00381521306306221	0.00040	T	0.206579	0.08622	T	.	.	.	.	.	.	.	.	-8.184	0.64469	D	.	.	0.096	0.28807	B	.;.;.;.;.	.;.;.;.;.	2.490476	0.32130	18.95	0.90375552909682755	0.19638	0.34615	0.25109	N	AEFDBI	0.164300	0.29068	N	-0.915212809601297	0.10486	0.5013117	-0.84299206343616	0.13457	0.6981461	0.232525281216098	0.18481	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.91	3.08	0.34576	2.103000	0.41430	.	.	-0.110000	0.15115	0.095000	0.22689	1.000000	0.68203	0.149000	0.20271	0.0:0.1349:0.7247:0.1404	11.644	0.50508	441	0.80015	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016633	0.005051	0.012228	0.032164	0.050000	0.008772	0.018293	0.022727	0.05	730.43	34	chr2	178650756	.	G	C	730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=394;ExcessHet=0;FS=5.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.27;SOR=1.352	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr2	178654277	178654277	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon193:c.A38311G:p.K12771E	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	10	1506	6	0	0	6	0.00198807	.	.	.	391996	not_specified|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	0.000271377192617	.	0.000199681	0.0002	0.0024	0.0004	0	0	3.211e-05	0	0	0.0001746	27	154602	rs551811137	9.101e-05	9.175e-05	0.0001	7.486e-05	0.0024	7.817e-05	7.357e-05	0.0019	0.0018	0.0024	0.0003	0	0	0	0.0002	1.892e-05	0.0003	0	0.0008	0.0009	0.0009	0.0007	0.0026	0.0007	0.0007	0.0022	0.0020	0.0026	0	0.0011	0	0	0	0	4.449e-05	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.22194	N	.	.	.	-0.33	0.68329	T	.	.	.	0.336	0.37717	.	.	.	.	.	.	.	0.011951089	0.00259	T	2.71E-4	0.00015	T	.	.	.	.	0.677189035597	0.67445	.	.	.	.	.	.	.	.	.	.	-0.540969	0.00331	T	-0.554768	0.16871	T	.	.	.	0.520648	0.16939	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.336907	0.17426	13.16	0.82808172443989581	0.14385	0.01655	0.05310	N	AEFI	0.076139	0.15309	N	.	.	.	.	.	.	0.0038731215975097	0.10318	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.34	-2.06	0.06894	-0.965000	0.03939	.	.	0.319000	0.19345	0.000000	0.06391	0.000000	0.08366	0.844000	0.39860	0.0:0.0:0.6335:0.3665	11.748	0.51097	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1285.43	36	chr2	178654277	.	T	C	1285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.322;DP=473;ExcessHet=0;FS=6.22;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.8;MQRankSum=0.292;QD=8.8;ReadPosRankSum=-1.332;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1275	9	0	1	0
chr2	178658281	178658281	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_001267550:exon185:c.G37702A:p.A12568T	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	392116	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy_9	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.0176962884608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1060500468	3.355e-05	4.607e-05	3.294e-05	3.412e-05	0.0001	2.297e-05	2.017e-05	2.602e-05	2.173e-05	0.0001	4.718e-05	0	0	0	0	3.909e-05	0	1.838e-05	0.0001	0.0002	6.962e-05	0.0002	0.0002	5.782e-05	4.321e-05	7.814e-05	5.538e-05	0	0.0026	0.0002	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.11	0.64445	T	.	.	.	0.063	0.03502	-1.0279	0.21136	T	0.062	0.25923	T	7	0.057545424	0.06626	T	0.017696	0.39501	T	.	.	.	.	0.107399877778	0.10242	.	.	0.0811842030757	0.09130	.	.	.	.	.	.	-0.466197	0.00898	T	-0.681735	0.06878	T	0.0415743938472112	0.03976	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.442764	0.02058	0.188	0.75871451274757895	0.11244	0.01726	0.05462	N	AEFI	0.055642	0.10221	N	-1.12564490445725	0.06190	0.2842832	-1.15957288992871	0.06597	0.3181081	0.0028617005979655	0.09760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	1.11	0.19640	-5.587000	0.00133	.	.	-0.315000	0.05944	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.0:0.282:0.4301:0.2879	8.364	0.31535	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	289.31	19	chr2	178658281	.	C	T	289.31	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.32;DP=104;ExcessHet=0;FS=0;InbreedingCoeff=-0.0904;MLEAC=1;MLEAF=0.056;MQ=26.5;MQRankSum=-1.098;QD=22.25;ReadPosRankSum=0.594;SOR=1.473	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,80	8	0	1	1
chr2	178720530	178720530	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon77:c.C19500G:p.N6500K,TTN:NM_001256850:exon78:c.C22281G:p.N7427K,TTN:NM_001267550:exon80:c.C23232G:p.N7744K	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1481	39	2	0	43	0.0143095	.	.	.	55880	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy|not_provided|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|not_specified	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.136	.	0.0015	0.00499201	0.0044	0.0006	0.0017	0.0006	0.0006	0.0025	0.0056	0.0193	0.0038809	600	154602	rs72648972	0.0026	0.0026	0.0021	0.0031	0.0183	0.0025	0.0025	0.0176	0.0173	0.0007	0.0013	0.0100	0.0006	0.0002	0.0146	0.0014	0.0033	0.0183	0.0020	0.0020	0.0017	0.0022	0.0164	0.0018	0.0017	0.0135	0.0124	0.0007	0.0044	0.0012	0.0095	0.0008	0.0005	0.0068	0.0017	0.0038	0.0164	0.654	0.04786	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	-0.19	0.65931	T	-1.1	0.28497	N	0.174	0.18649	-0.8718	0.50394	T	0.169	0.50971	T	9	0.005209595	0.00113	T	.	.	.	0.136	0.36778	0.595	0.72494	0.225215365344	0.22153	.	.	0.0961944766766	0.10857	0.519476056099	0.41553	T	.	.	.	-0.545903	0.00309	T	-0.541992	0.18101	T	0.0120060827115781	0.00189	T	0.591241	0.24205	T	.	.	.	.	.	.	.	.	-5.632	0.43084	T	.	.	0.439	0.61659	A	.;.;.;.	.;.;.;.	2.241784	0.28630	17.86	0.98043619275058436	0.37812	0.90945	0.52560	D	AEFBI	0.605447	0.59616	D	-0.128499880588375	0.36155	2.086049	0.044252851231667	0.41794	2.516947	0.237914839984263	0.18539	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	4.88	0.63131	1.595000	0.36318	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1445:0.0:0.8555:0.0	10.796	0.45663	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013092	0.010101	0.008152	0.029240	0.050000	0.008621	0.006098	0.015152	0.05	1049.43	47	chr2	178720530	.	G	C	1049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.311;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.553;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,120,1800:.	9	0	1	0
chr2	178724331	178724331	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon69:c.C17312T:p.A5771V,TTN:NM_001256850:exon70:c.C20093T:p.A6698V,TTN:NM_001267550:exon72:c.C21044T:p.A7015V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1469	50	2	0	54	0.0180481	.	.	.	55845	Cardiomyopathy|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided|not_specified|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.243	.	0.0026	0.0357428	0.0165	0.0012	0.0025	0.1206	0.0234	0.0040	0.0201	0.0283	0.0150904	2333	154602	rs72648960	0.0081	0.0081	0.0075	0.0088	0.1315	0.0080	0.0080	0.1285	0.1273	0.0011	0.0015	0.0107	0.1315	0.0249	0.0165	0.0016	0.0128	0.0263	0.0089	0.0089	0.0075	0.0104	0.1238	0.0085	0.0084	0.1159	0.1127	0.0017	0.0044	0.0019	0.0109	0.1238	0.0243	0.0034	0.0025	0.0104	0.0257	0.074	0.34621	T	.	.	.	0.096	0.25489	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.33	0.68329	T	-2.43	0.53258	N	0.144	0.19861	-1.1269	0.01936	T	0.002	0.00738	T	9	0.0019120276	0.00026	T	.	.	.	0.243	0.54921	.	.	.	.	.	.	0.103848864121	0.11752	0.359437406063	0.19304	T	.	.	.	-0.453742	0.01073	T	-0.294725	0.45280	T	0.0290006924244436	0.01838	T	0.756924	0.39714	T	.	.	.	.	.	.	.	.	-5.853	0.45033	T	.	.	0.121	0.25265	B	.;.;.;.	.;.;.;.	3.504248	0.49039	22.7	0.96988817785172754	0.31892	0.91942	0.54598	D	AEFBI	0.709002	0.66323	D	0.0698934415565155	0.45062	2.769151	0.266236103342934	0.53580	3.526084	0.999691923627461	0.41870	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	0.757000	0.26098	.	.	0.676000	0.76740	0.946000	0.32893	1.000000	0.68203	0.990000	0.65344	0.0:0.168:0.832:0.0	16.243	0.82250	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014099	0.005051	0.009511	0.029240	0.000000	0.008621	0.012195	0.015152	0.05	2015.43	35	chr2	178724331	.	G	A	2015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.472;DP=503;ExcessHet=0;FS=6.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.515;SOR=1.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr2	178733463	178733467	GGATC	-	exonic	TTN	.	frameshift deletion	TTN:NM_133378:exon51:c.12094_12098del:p.D4032Rfs*28,TTN:NM_001256850:exon52:c.14875_14879del:p.D4959Rfs*28,TTN:NM_001267550:exon54:c.15826_15830del:p.D5276Rfs*28	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1520	1	0	1	2	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2333.39	36	chr2	178733462	.	GGGATC	G	2333.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.26;DP=556;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=2.15;SOR=0.61	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr2	178733688	178733688	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon50:c.T11969C:p.F3990S,TTN:NM_001256850:exon51:c.T14750C:p.F4917S,TTN:NM_001267550:exon53:c.T15701C:p.F5234S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00686138669083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.09836	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	-0.19	0.65931	T	-2.19	0.49352	N	0.506	0.53796	-1.0414	0.16890	T	0.049	0.20947	T	9	0.16300628	0.30535	T	0.006861	0.18149	T	0.221	0.51721	0.517	0.61763	0.376393476264	0.37247	.	.	0.150935704758	0.17036	0.310632407665	0.12003	T	.	.	.	-0.0791786	0.39847	T	-0.351511	0.39032	T	0.101598507035054	0.12532	T	0.539746	0.21965	T	.	.	.	.	.	.	.	.	-1.969	0.03066	T	.	.	0.058	0.00625	B	.;.;.;.	.;.;.;.	2.046054	0.26006	16.97	0.95500326780026734	0.27089	0.79646	0.39507	D	AEFBI	0.263772	0.38125	N	-0.522736326943391	0.21345	1.13216	-0.250817327390364	0.29742	1.668885	0.956090880587551	0.28227	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.79	3.43	0.38372	1.868000	0.39146	.	.	0.756000	0.94297	0.974000	0.34632	0.019000	0.20708	0.993000	0.69303	0.4701:0.1998:0.1391:0.191	0.711	0.00865	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3761.43	36	chr2	178733688	.	A	G	3761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.989;DP=655;ExcessHet=0;FS=3.169;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.246;SOR=0.521	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr2	178735576	178735576	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon47:c.C11138G:p.T3713S,TTN:NM_001256850:exon48:c.C13919G:p.T4640S,TTN:NM_001267550:exon50:c.C14870G:p.T4957S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1481	38	3	0	44	0.0146374	.	.	.	55759	Cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided|Cardiovascular_phenotype|not_specified|TTN-related_disorder	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0229239419314	0.0026	0.00179712	0.0032	0.0005	0.0055	0	0	0.0043	0.0023	0.0015	0.0031436	486	154602	rs72648925	0.0030	0.0030	0.0030	0.0030	0.0210	0.0029	0.0029	0.0180	0.0168	0.0006	0.0053	0.0096	0	0.0004	0.0210	0.0030	0.0054	0.0010	0.0029	0.0029	0.0031	0.0026	0.0048	0.0026	0.0026	0.0040	0.0036	0.0007	0.0724	0.0048	0.0092	0	0.0003	0.0204	0.0031	0.0057	0.0012	0.845	0.02774	T	.	.	.	0.042	0.21471	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.21	0.66294	T	-1.59	0.38345	N	0.218	0.25499	-0.7643	0.57171	T	0.210	0.56973	T	9	0.010286361	0.00230	T	0.022924	0.45860	T	0.101	0.28911	0.411	0.44723	0.267755039894	0.26402	.	.	0.0944205393079	0.10659	0.299888879061	0.10385	T	.	.	.	-0.400026	0.02314	T	-0.345051	0.39772	T	0.0151876776152873	0.00332	T	0.525248	0.26896	T	.	.	.	.	.	.	.	.	-4.441	0.30109	T	.	.	0.092	0.13456	B	.;.;.;.	.;.;.;.	2.060744	0.26204	17.03	0.78687213788378996	0.12409	0.90596	0.51903	D	AEFBI	0.631242	0.61229	D	-0.0168114708298125	0.41095	2.452012	0.154209315163401	0.47365	2.967873	0.99297273192638	0.33037	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	4.79	0.60909	2.045000	0.40873	.	.	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.827000	0.38976	0.0:0.0:0.7496:0.2504	13.953	0.63641	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.016616	0.005051	0.028533	0.029240	0.000000	0.008621	0.009146	0.000000	0.05	1517.43	34	chr2	178735576	.	G	C	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.392;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1128	9	0	1	0
chr2	178739264	178739264	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.A12880C:p.N4294H,TTN:NM_001256850:exon46:c.A13018C:p.N4340H,TTN:NM_133432:exon46:c.A13255C:p.N4419H,TTN:NM_133437:exon46:c.A13456C:p.N4486H,TTN:NM_001267550:exon48:c.A13969C:p.N4657H	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1494	26	2	0	30	0.00994036	.	.	.	57007	not_provided|Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Hypertrophic_cardiomyopathy|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.220	.	0.0004	0.00299521	0.0032	0.0001	0.0007	0	0.0003	0.0010	0.0047	0.0215	0.0027037	418	154602	rs200204761	0.0016	0.0016	0.0011	0.0021	0.0170	0.0015	0.0015	0.0163	0.0160	0.0001	0.0003	0.0009	0	1.877e-05	0.0056	0.0006	0.0014	0.0170	0.0009	0.0009	0.0006	0.0012	0.0157	0.0008	0.0007	0.0129	0.0118	9.619e-05	0.0022	0.0004	0.0003	0	0.0005	0	0.0006	0.0005	0.0157	0.057	0.37966	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.32	0.68181	T	-2.75	0.59545	D	0.21	0.26596	-0.6240	0.63823	T	0.343	0.70810	T	9	0.006801218	0.00154	T	.	.	.	0.220	0.51569	.	.	0.270889551736	0.26708	.	.	0.274007894521	0.29900	0.436665117741	0.30122	T	.	.	.	-0.467338	0.00883	T	-0.429795	0.29959	T	0.0708919177915308	0.08775	T	0.825317	0.48765	T	.	.	.	.	.	.	.	.	-4.865	0.38921	T	.	.	0.134	0.29144	B	.;.;.;.;.;.	.;.;.;.;.;.	2.438841	0.31384	18.73	0.86150515702998354	0.16346	0.94212	0.60454	D	AEFBI	0.756918	0.69603	D	0.28800681486862	0.55541	3.718025	0.300404765963867	0.55564	3.719286	0.987392401672458	0.31255	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	3.17	0.35510	3.450000	0.52720	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.2504:0.0:0.7496	7.722	0.27901	341	0.85936	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.005848	0.050000	0.008621	0.000000	0.011364	0.05	2900.43	33	chr2	178739264	.	T	G	2900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.378;DP=513;ExcessHet=0;FS=5.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-0.159;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1149	9	0	1	0
chr2	178741088	178741088	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon45:c.C11056T:p.P3686S,TTN:NM_001256850:exon46:c.C11194T:p.P3732S,TTN:NM_133432:exon46:c.C11431T:p.P3811S,TTN:NM_133437:exon46:c.C11632T:p.P3878S,TTN:NM_001267550:exon48:c.C12145T:p.P4049S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1512	10	0	0	10	0.00329598	.	.	.	56981	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided|Cardiovascular_phenotype|TTN-related_disorder|Cardiomyopathy	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.0149335683668	8.4e-05	.	0.0005	0	0.0002	0	0	0.0007	0.0022	0.0006	0.0004204	65	154602	rs201888760	0.0003	0.0003	0.0003	0.0003	0.0045	0.0003	0.0003	0.0032	0.0027	0.0001	0.0002	0.0012	0	0	0.0045	0.0003	0.0004	0.0005	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.899e-05	0.0001	0	6.537e-05	0.0009	0	0	0.0034	0.0002	0.0005	0.0006	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.23	0.63911	T	-3.11	0.64019	D	0.042	0.01498	-1.0070	0.27850	T	0.103	0.38044	T	9	0.0190306	0.00420	T	0.014934	0.35361	T	0.065	0.18881	.	.	0.0401082797425	0.02173	.	.	0.084161567983	0.09491	0.229907780886	0.01961	T	.	.	.	-0.410272	0.01979	T	-0.486555	0.23753	T	0.0187788790659381	0.00590	T	0.776822	0.43364	T	.	.	.	.	.	.	.	.	-3.086	0.11136	T	.	.	0.078	0.07036	B	.;.;.;.;.;.	.;.;.;.;.;.	0.133103	0.05285	1.780	0.67186882369169798	0.08280	0.06421	0.12426	N	AEFBI	0.143015	0.26561	N	-1.09185619617507	0.06792	0.3136976	-1.10274218165064	0.07648	0.3728313	0.744793434391157	0.23268	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	-0.66	0.10847	0.258000	0.18156	.	.	-0.775000	0.03392	0.002000	0.15269	0.002000	0.18203	0.040000	0.14268	0.0635:0.2077:0.2756:0.4532	5.038	0.13787	341	0.85936	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	3181.12	33	chr2	178741088	.	G	A	3181.12	.	AC=2;AF=0.1;AN=20;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.01;SOR=0.77	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3204,318,0	9	1	0	0
chr2	178748464	178748464	T	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133379:exon46:c.A13936G:p.K4646E	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	5	1464	49	4	0	57	0.0190955	.	.	.	56928	not_specified|not_provided|TTN-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0065	0.00259585	0.0082	0.0013	0.0049	0	0.0024	0.0107	0.0122	0.0111	0.0076196	1178	154602	rs140909116	0.0069	0.0069	0.0066	0.0072	0.0163	0.0068	0.0067	0.0136	0.0127	0.0013	0.0050	0.0405	0	0.0032	0.0163	0.0062	0.0093	0.0119	0.0058	0.0058	0.0061	0.0055	0.0093	0.0055	0.0054	0.0072	0.0068	0.0013	0	0.0045	0.0427	0.0002	0.0026	0.0272	0.0075	0.0095	0.0093	0.0	0.91255	D	0.021	0.58089	D	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	1	0.26107	N	.	.	.	-0.17	0.65563	T	-1.23	0.31170	N	0.142	0.14196	-1.0076	0.27665	T	0.096	0.36185	T	9	0.0027041435	0.00042	T	.	.	.	0.041	0.10877	.	.	0.303123707472	0.29912	.	.	.	.	.	.	.	.	.	.	-0.478046	0.00759	T	-0.449068	0.27799	T	0.00851544510352112	0.00104	T	0.290171	0.05279	T	.	.	.	.	.	.	.	.	-3.478	0.16125	T	.	.	.	.	.	.	.	-0.557152	0.01693	0.122	0.55270828152291973	0.05307	0.06636	0.12653	N	AEBI	0.099856	0.20091	N	-1.21449534428944	0.04789	0.2168849	-1.26204783316918	0.04955	0.2349757	0.99500758879886	0.33904	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.71	-2.52	0.05978	-0.106000	0.10860	.	.	-0.692000	0.04118	0.036000	0.20778	0.000000	0.08366	0.026000	0.12556	0.0:0.3421:0.2383:0.4196	6.312	0.20378	341	0.85936	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.018630	0.010101	0.020380	0.017544	0.000000	0.025862	0.021341	0.015152	0.05	1437.43	33	chr2	178748464	.	T	C	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.948;DP=481;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.161;SOR=0.941	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,107,1507	9	0	1	0
chr2	178773193	178773193	C	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon32:c.G7633C:p.V2545L,TTN:NM_133432:exon32:c.G7633C:p.V2545L,TTN:NM_133437:exon32:c.G7633C:p.V2545L,TTN:NM_001256850:exon33:c.G7771C:p.V2591L,TTN:NM_001267550:exon33:c.G7771C:p.V2591L,TTN:NM_133378:exon33:c.G7771C:p.V2591L,TTN:NM_133379:exon33:c.G7771C:p.V2591L	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0196124366724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497	0.49613	T	0.087	0.40747	T	0.075	0.48103	B	0.133	0.42432	B	.	.	.	.	0.869337	0.35533	D	.	.	.	-0.2	0.66113	T	-1.96	0.51478	N	0.275	0.65758	-0.9527	0.40503	T	0.147	0.47147	T	9	0.21065396	0.37467	T	0.019612	0.42016	T	0.223	0.52023	0.725	0.85937	0.459906663326	0.45615	.	.	0.114562253734	0.12917	0.652924478054	0.60401	T	.	.	.	-0.0240363	0.48276	T	-0.272303	0.47587	T	0.289597327791087	0.24573	T	0.912709	0.68911	D	.	.	.	.	.	.	.	.	-3.029	0.10530	T	.	.	0.395	0.59291	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.394168	0.30746	18.53	0.9264183828746192	0.22116	0.94838	0.62504	D	AEFBI	0.704072	0.65990	D	-0.0681739725550954	0.38794	2.277689	0.0870409544319142	0.43895	2.68191	0.885931625784354	0.25730	0.487112	0.14033	0	0.54472	0.11627	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.59	4.71	0.59010	2.068000	0.41097	.	.	0.599000	0.40250	1.000000	0.71638	0.950000	0.28999	0.994000	0.71098	0.0:0.8522:0.0:0.1478	10.528	0.44151	343	0.85802	.;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1014.43	41	chr2	178773193	.	C	G	1014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.338;DP=425;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.017;SOR=0.454	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1249	9	0	1	0
chr2	181678581	181678581	C	T	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G280A:p.A94T	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.185104618644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.033	0.53072	D	0.609	0.39586	P	0.17	0.35299	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.345	0.67358	M	-3.83	0.95794	D	-3.41	0.67129	D	0.482	0.51672	0.764	0.93967	D	0.839	0.94617	D	10	0.38633454	0.54568	T	0.185105	0.85791	D	0.514	0.79217	0.212	0.13066	0.973489430895	0.97320	0.29720361518298416	0.29633	0.492894575392	0.47914	0.768705010414	0.77230	T	0.778333	0.94125	D	0.243896	0.78027	D	0.112563	0.77741	D	0.981200635433197	0.73779	D	0.718228	0.33111	T	0.4986552	0.67017	0.56728184	0.74951	0.4986552	0.67017	0.56728184	0.74952	-9.882	0.73202	D	0.40084497278937786	0.49267	0.905	0.83126	P	.	.	4.524390	0.70963	25.6	0.99916718950499361	0.98449	0.02369	0.06743	N	AEFBHCI	0.962693	0.98437	D	0.568276493917839	0.71201	5.615123	0.671606235025357	0.80229	7.252605	0.999999999999839	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	6.16	0.99302	7.852000	0.85247	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.424	0.94724	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	132.3	34	chr2	181678581	.	C	T	132.3	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.956;DP=751;ExcessHet=0.2348;FS=177.639;InbreedingCoeff=-0.1538;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=2.45;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1221:.	6	0	2	2
chr2	181678582	181678582	C	G	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.G279C:p.K93N	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.26666140162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.008	0.67890	D	0.992	0.64738	D	0.917	0.65306	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	-3.89	0.95984	D	-3.93	0.73267	D	0.133	0.12913	0.970	0.96706	D	0.899	0.96635	D	10	0.46495566	0.59513	T	0.266661	0.89719	D	0.582	0.83193	0.204	0.11936	0.981752576465	0.98155	0.3507142746384394	0.34985	1.39719179774	0.85110	0.736429929733	0.72447	T	0.82509	0.95764	D	0.0536061	0.58806	T	-0.160775	0.58282	T	0.984899401664734	0.76055	D	0.852015	0.53695	D	0.75474715	0.81145	0.70367765	0.82535	0.75474715	0.81146	0.70367765	0.82536	-11.457	0.82105	D	0.5535140685958624	0.62186	0.985	0.92305	P	.	.	5.011938	0.83234	28.0	0.99857391532379614	0.93639	0.00500	0.02358	N	AEFBHCI	0.756727	0.69590	D	0.604673102786654	0.73471	5.971292	0.580451642377621	0.73538	5.987081	0.999966982596455	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	5.28	0.74118	1.359000	0.33717	5.999000	0.52457	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.7863:0.1412:0.0725	9.838	0.40151	854	0.34840	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	134.38	34	chr2	181678582	.	C	G	134.38	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.593;DP=729;ExcessHet=0.2348;FS=177.639;InbreedingCoeff=-0.2245;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=2.51;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:58,0:58:84:.:.:0,84,1589:.	4	0	2	4
chr2	181902132	181902134	AAG	-	exonic	ITPRID2	.	nonframeshift deletion	ITPRID2:NM_001287504:exon7:c.620_622del:p.E209del,ITPRID2:NM_001130445:exon8:c.1079_1081del:p.E362del,ITPRID2:NM_001287503:exon8:c.1079_1081del:p.E362del,ITPRID2:NM_006751:exon8:c.1079_1081del:p.E362del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	.	5.81e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs776421195	8.693e-05	8.688e-05	8.579e-05	8.808e-05	0.0002	7.425e-05	6.973e-05	8.854e-05	8.24e-05	0	0	0	0	0	0.0002	0.0001	0.0001	1.163e-05	9.853e-05	9.849e-05	0.0001	9.411e-05	0.0002	6.005e-05	4.878e-05	0.0001	9.895e-05	2.412e-05	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2630.39	33	chr2	181902131	.	AAAG	A	2630.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.168;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.21;ReadPosRankSum=1.25;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	9	0	1	0
chr2	183079012	183079012	A	T	exonic	DUSP19	.	nonsynonymous SNV	DUSP19:NM_001142314:exon1:c.A79T:p.T27S,DUSP19:NM_001321519:exon1:c.A79T:p.T27S,DUSP19:NM_080876:exon1:c.A79T:p.T27S	.	424	1097	1	0	0	1	0.000455581	.	.	.	2379486	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00632232325916	.	.	2.474e-05	0	8.694e-05	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs780268966	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	4.473e-05	0	0	0	0.0003	1.079e-05	4.967e-05	0	6.57e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.555	0.06482	T	0.607	0.07766	T	0.002	0.09854	B	0.01	0.14941	B	0.000059	0.53742	N	0.198495	0.963927	0.38376	D	0.94	0.23649	L	2.55	0.13795	T	-0.55	0.16799	N	0.067	0.04790	-1.0257	0.21853	T	0.015	0.06042	T	10	0.06825876	0.09628	T	0.006322	0.16610	T	0.071	0.20720	0.47	0.54376	0.263140351381	0.25927	0.448569413987124	0.44774	0.0567399249057	0.06275	0.52884554863	0.42871	T	0.008974	0.08204	T	-0.275719	0.11127	T	-0.550962	0.17234	T	0.471237272024155	0.31576	T	0.629737	0.24556	T	0.104672015	0.24745	0.119779356	0.28908	0.104672015	0.24744	0.119779356	0.28907	-2.876	0.08906	T	.	.	0.105	0.19357	B	.;.	.;.	2.277863	0.29126	18.02	0.93972228465862873	0.24048	0.91280	0.53216	D	ALL	0.392689	0.47064	N	-0.381059424360241	0.26144	1.424612	-0.110639813086751	0.34960	2.016991	0.99999999645233	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.003489	0.00041	3	.	.	6.17	5.01	0.66477	5.272000	0.65369	6.114000	0.53700	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7422:0.0:0.0:0.2578	10.565	0.44357	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1131.43	34	chr2	183079012	.	A	T	1131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.459;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.53;SOR=0.737	GT:AD:DP:GQ:PL	0/1:49,48:97:99:1143,0,1151	9	0	1	0
chr2	184938726	184938726	-	GCC	exonic	ZNF804A	.	nonframeshift insertion	ZNF804A:NM_194250:exon4:c.3330_3331insGCC:p.A1119_G1120insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1345.39	39	chr2	184938726	.	T	TGCC	1345.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=485;ExcessHet=0;FS=1.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.463;SOR=0.913	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr2	185796083	185796083	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G8947A:p.G2983S	.	436	1070	16	0	0	16	0.00742115	.	.	.	707890	FSIP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.0145428648513	.	0.00179712	0.0032	0	0	0	0	0.0073	0.0051	0.0018	0.0008797	136	154602	rs142675481	0.0034	0.0032	0.0034	0.0034	0.0193	0.0033	0.0033	0.0163	0.0152	0.0009	0.0026	0.0144	0	0.0008	0.0193	0.0034	0.0037	0.0019	0.0026	0.0026	0.0026	0.0027	0.0036	0.0024	0.0023	0.0032	0.0031	0.0006	0	0.0028	0.0168	0	0.0006	0.0034	0.0036	0.0048	0.0025	0.841	0.02803	T	0.921	0.02864	T	.	.	.	.	.	.	0.956254	0.07688	N	1.019820	1	0.08975	N	1.35	0.33515	L	1.12	0.38718	T	-1.78	0.42001	N	0.118	0.10769	-1.0130	0.25975	T	0.046	0.19879	T	8	0.005519718	0.00122	T	0.014543	0.34724	T	0.098	0.28162	.	.	0.0138822411134	0.00435	0.07517808770623123	0.07453	.	.	0.248386114836	0.03599	T	0.052191	0.29091	T	-0.495159	0.00609	T	-0.484182	0.24004	T	0.00956093055494588	0.00124	T	0.570043	0.20293	T	0.030915478	0.02837	0.07118786	0.15215	0.030915478	0.02837	0.07118786	0.15214	-1.606	0.01996	T	.	.	0.088	0.11558	B	.	.	-0.145085	0.03381	0.606	0.40151901440451598	0.02816	0.02581	0.07133	N	AEFHCI	0.044896	0.07278	N	-1.45980862271822	0.02140	0.09420565	-1.52082405954698	0.02184	0.1000747	2.98581108424224E-6	0.01202	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.36	-1.84	0.07387	-0.054000	0.11783	1.375000	0.25987	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5665:0.0:0.4335:0.0	10.689	0.45058	756	0.51065	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.009259	0.015957	0.016129	0.023256	0.000000	0.000000	0.000000	0.000000	0.05	1444.43	115	chr2	185796083	.	G	A	1444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=876;ExcessHet=0;FS=2.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-1.771;SOR=0.765	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	9	0	1	0
chr2	185800057	185800057	C	T	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.C10751T:p.A3584V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0261195452301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.626e-06	3.42e-06	2.864e-06	4.408e-06	0.0002	1.06e-06	7.7e-07	8.7e-07	5.9e-07	0	0	0	0	0	0.0002	3.72e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.01	0.65728	D	.	.	.	.	.	.	0.026824	0.25855	N	0.338341	1	0.08975	N	0	0.06538	N	0.83	0.47815	T	-2.22	0.49846	N	0.101	0.08366	-0.9530	0.40450	T	0.093	0.35255	T	8	0.15389061	0.29039	T	0.02612	0.49051	D	0.136	0.36778	.	.	0.409665357357	0.40584	0.06729686959874208	0.06667	.	.	0.381960868835	0.22535	T	0.015303	0.12863	T	-0.259675	0.12938	T	-0.610781	0.11922	T	0.310758966157264	0.25445	T	0.369963	0.08710	T	0.079349	0.18121	0.10385223	0.24928	0.079349	0.18121	0.10385223	0.24927	-3.463	0.15917	T	.	.	0.130	0.27821	B	.	.	0.884311	0.12578	9.104	0.98795213497218126	0.46365	0.10192	0.15766	N	AEFI	0.140071	0.26187	N	-0.319253656483677	0.28417	1.567214	-0.333297571006286	0.27030	1.497095	0.0171456956681758	0.12917	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.19	5.19	0.71428	2.002000	0.40454	1.012000	0.23339	-0.176000	0.10722	0.016000	0.19238	0.009000	0.19889	0.146000	0.20164	0.0:1.0:0.0:0.0	14.087	0.64490	731	0.54177	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	583.43	69	chr2	185800057	.	C	T	583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.987;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.804;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1038	9	0	1	0
chr2	185804598	185804598	A	G	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A15292G:p.I5098V	.	435	1058	27	2	0	31	0.0144388	.	.	.	3210115	FSIP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.011	.	.	0.00658946	0.0162	0	0.0053	0	0.0013	0.0026	0.0269	0.0287	0.0023221	359	154602	rs116029352	0.0052	0.0049	0.0044	0.0059	0.0277	0.0051	0.0050	0.0267	0.0263	0.0005	0.0023	0.0006	2.802e-05	0.0024	0.0070	0.0041	0.0050	0.0277	0.0037	0.0037	0.0034	0.0040	0.0301	0.0035	0.0034	0.0261	0.0246	0.0010	0	0.0013	0.0012	0.0002	0.0021	0.0136	0.0047	0.0043	0.0301	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.1	0.00987	N	1.1	0.39050	T	0.18	0.05035	N	0.012	0.00125	-0.9963	0.30946	T	0.026	0.11043	T	7	0.0035538077	0.00064	T	.	.	.	0.011	0.01250	.	.	.	.	0.030669484624268203	0.03015	.	.	0.262273460627	0.05164	T	0.001205	0.00701	T	-0.727779	0.00025	T	-0.797908	0.01955	T	0.00868098556356589	0.00107	T	0.328467	0.06836	T	0.020307582	0.00585	0.041548263	0.04748	0.020307582	0.00584	0.041548263	0.04748	-4.119	0.25569	T	.	.	0.068	0.02861	B	.	.	-1.214428	0.00516	0.012	0.39593560357966201	0.02741	0.00227	0.01275	N	AEFI	.	.	.	-1.67149918017404	0.00948	0.04105339	-1.71557173476285	0.01070	0.0480477	8.30265016546679E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	-3.6	0.04277	-0.099000	0.10976	-0.220000	0.10772	-1.500000	0.01031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1283:0.1287:0.743:0.0	12.856	0.57271	735	0.53711	Fibrous sheath-interacting protein 2, C-terminal|Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002577	0.000000	0.007246	0.000000	0.000000	0.000000	0.005682	0.000000	0.1	5246.12	95	chr2	185804598	.	A	G	5246.12	.	AC=2;AF=0.1;AN=20;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.5;SOR=0.894	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	1	0	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	443.45	47	chr2	186504215	.	G	A	443.45	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:17,0:17:0:.:.:0,0,0:.	4	0	4	2
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	443.45	47	chr2	186504215	.	G	C	443.45	.	AC=3;AF=0.188;AN=16;BaseQRankSum=1.62;DP=389;ExcessHet=10.4813;FS=166.33;InbreedingCoeff=-0.578;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=1.57;SOR=8.585	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:17,0:17:0:.:.:0,0,0:.	5	0	3	2
chr2	188584344	188584344	C	T	exonic	GULP1	.	nonsynonymous SNV	GULP1:NM_001252669:exon7:c.C380T:p.S127L,GULP1:NM_001375947:exon8:c.C551T:p.S184L,GULP1:NM_001375944:exon9:c.C551T:p.S184L,GULP1:NM_001375945:exon9:c.C551T:p.S184L,GULP1:NM_001375946:exon9:c.C551T:p.S184L,GULP1:NM_001375950:exon9:c.C551T:p.S184L,GULP1:NM_001375952:exon9:c.C842T:p.S281L,GULP1:NM_001252668:exon10:c.C689T:p.S230L,GULP1:NM_001375925:exon10:c.C689T:p.S230L,GULP1:NM_001375928:exon10:c.C689T:p.S230L,GULP1:NM_001375930:exon10:c.C689T:p.S230L,GULP1:NM_001375931:exon10:c.C689T:p.S230L,GULP1:NM_001375935:exon10:c.C914T:p.S305L,GULP1:NM_001375937:exon10:c.C914T:p.S305L,GULP1:NM_016315:exon10:c.C689T:p.S230L,GULP1:NM_001375926:exon11:c.C689T:p.S230L,GULP1:NM_001375927:exon11:c.C689T:p.S230L,GULP1:NM_001375929:exon11:c.C689T:p.S230L,GULP1:NM_001375932:exon11:c.C914T:p.S305L,GULP1:NM_001375933:exon11:c.C914T:p.S305L,GULP1:NM_001375936:exon11:c.C914T:p.S305L,GULP1:NM_001375938:exon11:c.C914T:p.S305L,GULP1:NM_001375948:exon11:c.C914T:p.S305L,GULP1:NM_001375953:exon11:c.C800T:p.S267L,GULP1:NM_001375934:exon12:c.C914T:p.S305L,GULP1:NM_001375939:exon12:c.C914T:p.S305L,GULP1:NM_001375940:exon12:c.C938T:p.S313L,GULP1:NM_001375943:exon12:c.C938T:p.S313L,GULP1:NM_001375949:exon12:c.C914T:p.S305L,GULP1:NM_001375941:exon13:c.C938T:p.S313L,GULP1:NM_001375942:exon13:c.C938T:p.S313L,GULP1:NM_001375951:exon13:c.C854T:p.S285L	.	437	1071	14	0	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0146900387154	.	0.000798722	0.0012	0	8.639e-05	0	0	8.991e-05	0	0.0087	0.0010155	157	154602	rs537795313	0.0007	0.0007	0.0004	0.0010	0.0093	0.0007	0.0006	0.0087	0.0085	3.002e-05	2.237e-05	0	2.525e-05	1.873e-05	0.0012	0.0001	0.0008	0.0093	0.0004	0.0004	0.0002	0.0008	0.0110	0.0004	0.0003	0.0086	0.0078	2.407e-05	0	6.542e-05	0	0	0	0	0.0002	0.0005	0.0110	0.221	0.18889	T	0.721	0.13595	T	0.103	0.25884	B	0.01	0.14941	B	0.022385	0.26643	N	0.419660	0.998374	0.22713	N	1.39	0.34934	L	0.82	0.48142	T	-1.32	0.32991	N	0.356	0.47765	-1.0672	0.10039	T	0.071	0.29001	T	10	0.0039662123	0.00076	T	0.01469	0.34971	T	0.037	0.09474	.	.	0.187035705434	0.18338	0.2560688191472904	0.25520	0.161690706144	0.18250	0.295183449984	0.09685	T	0.086481	0.37734	T	-0.495672	0.00605	T	-0.47781	0.24680	T	0.0300649500654145	0.01999	T	0.906609	0.67446	D	0.043752275	0.06875	0.051814113	0.08414	0.043752275	0.06874	0.051814113	0.08414	-5.205	0.43470	T	.	.	0.067	0.05535	B	.;.;.;.;.;.	.;.;.;.;.;.	2.740033	0.35886	20.1	0.9764757815393369	0.35120	0.90360	0.51474	D	AEFBI	0.456351	0.50825	N	-0.65918347732356	0.17193	0.8826366	-0.565134493956244	0.20405	1.099191	0.20531447057572	0.18173	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	3.84	0.43422	4.035000	0.57007	3.212000	0.36806	-0.177000	0.10537	0.981000	0.35396	0.968000	0.29604	0.414000	0.27095	0.0:0.8003:0.1297:0.0701	10.947	0.46522	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1674.43	165	chr2	188584344	.	C	T	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=513;ExcessHet=0;FS=2.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=1.05;SOR=0.942	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr2	189467542	189467542	G	A	exonic	WDR75	.	nonsynonymous SNV	WDR75:NM_032168:exon14:c.G1522A:p.E508K,WDR75:NM_001303096:exon15:c.G1330A:p.E444K	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0104319385265	7.7e-05	.	7.428e-05	0	8.67e-05	0.0001	0	6.004e-05	0	0.0002	6.47e-05	10	154602	rs371434035	9.594e-05	9.645e-05	9.408e-05	9.782e-05	0.0003	8.257e-05	7.796e-05	0.0002	0.0002	2.998e-05	0.0001	0	5.053e-05	0	0.0003	8.464e-05	0.0002	0.0003	6.573e-05	6.567e-05	8.997e-05	4.036e-05	0.0001	3.518e-05	2.617e-05	6.804e-05	5.088e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.071	0.35165	T	0.128	0.34959	T	0.994	0.66517	D	0.664	0.52930	P	0.000000	0.84330	D	0.048377	0.999999	0.58761	D	2.075	0.57047	M	3.61	0.04446	T	-1.56	0.37759	N	0.608	0.62526	-1.2087	0.00096	T	0.033	0.14290	T	10	0.41242692	0.56315	T	0.010432	0.26958	T	0.236	0.53931	.	.	0.082315109003	0.07666	0.5426403694625328	0.54190	0.656936052451	0.58672	0.779460549355	0.78846	T	0.066445	0.32947	T	-0.214095	0.18807	T	-0.25316	0.49505	T	0.487610876560211	0.32176	T	0.966403	0.87711	D	0.32644284	0.55177	0.28607717	0.54614	0.32644284	0.55177	0.28607717	0.54613	-5.586	0.42664	T	.	.	0.258	0.49304	B	.	.	5.337524	0.89559	30	0.99906605421935191	0.97726	0.98420	0.82592	D	AEFBI	0.764801	0.70148	D	0.694110279624865	0.79248	7.03751	0.739779186167987	0.85392	8.566762	0.999999999996598	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	6.776000	0.74817	11.647000	0.93845	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.563	0.99337	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	976.43	85	chr2	189467542	.	G	A	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=417;ExcessHet=0;FS=2.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.757;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1036	9	0	1	0
chr2	189741426	189741426	A	C	exonic	ANKAR	.	nonsynonymous SNV	ANKAR:NM_001378068:exon20:c.A3785C:p.Y1262S,ANKAR:NM_144708:exon20:c.A3785C:p.Y1262S	.	444	1055	22	1	0	24	0.0112465	.	.	.	707904	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.127	.	0.0078	0.00439297	0.0070	0.0021	0.0044	0	0.0023	0.0109	0.0099	0.0018	0.0074773	1156	154602	rs143926631	0.0099	0.0100	0.0101	0.0098	0.0230	0.0098	0.0097	0.0198	0.0186	0.0027	0.0058	0.0081	5.068e-05	0.0031	0.0230	0.0116	0.0096	0.0018	0.0071	0.0071	0.0075	0.0067	0.0113	0.0068	0.0066	0.0106	0.0103	0.0021	0.0055	0.0088	0.0084	0	0.0019	0.0340	0.0113	0.0090	0.0021	0.612	0.05436	T	0.651	0.06713	T	.	.	.	.	.	.	0.019954	0.27146	N	0.313544	1	0.81001	D	2.655	0.77738	M	3.73	0.03982	T	0.17	0.05125	N	0.648	0.66101	-0.9175	0.45891	T	0.005	0.01578	T	10	0.009049147	0.00205	T	.	.	.	0.127	0.34888	.	.	0.419335720491	0.41547	0.44147656006059033	0.44064	0.148297270919	0.16722	0.397342652082	0.24699	T	0.003414	0.02819	T	-0.458074	0.01011	T	-0.419092	0.31179	T	0.0180010151183526	0.00525	T	0.568143	0.20156	T	0.0770036	0.17449	0.068892315	0.14444	0.0770036	0.17449	0.068892315	0.14444	-2.038	0.03327	T	.	.	0.191	0.41402	B	.;.	.;.	2.820017	0.37150	20.4	0.82916808961816912	0.14444	0.73755	0.36076	D	AEFI	0.155171	0.28033	N	-0.433153679071796	0.24314	1.312013	-0.276640075916563	0.28870	1.613011	4.38987345290045E-4	0.06970	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.69	3.15	0.35301	2.320000	0.43456	5.044000	0.46937	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.7233:0.1414:0.0:0.1353	7.978	0.29330	789	0.46346	.;.	PMS1|ORMDL1|PMS1	Brain_Cerebellum|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg	.	.	rs143926631	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.000000	0.013587	0.046784	0.000000	0.017241	0.006098	0.007576	0.05	357.43	33	chr2	189741426	.	A	C	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=325;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.05;SOR=1.11	GT:AD:DP:GQ:PL	0/1:14,15:29:99:369,0,290	9	0	1	0
chr2	189755501	189755501	A	G	exonic	OSGEPL1	.	nonsynonymous SNV	OSGEPL1:NM_001354347:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376077:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376078:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376079:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376080:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376081:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376082:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376083:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376097:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376098:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376099:exon3:c.T281C:p.I94T,OSGEPL1:NM_001376100:exon3:c.T281C:p.I94T,OSGEPL1:NM_022353:exon3:c.T281C:p.I94T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.011811684432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.895e-07	6.84e-07	0	1.386e-06	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.30656	T	0.073	0.43159	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.050457	0.986384	0.40424	D	0.63	0.15941	N	0.93	0.44065	T	-2.38	0.54382	N	0.679	0.68603	-1.0786	0.07622	T	0.073	0.29515	T	10	0.5141675	0.62270	D	0.011812	0.29802	T	0.251	0.56024	0.7	0.83684	0.348324211639	0.34438	0.7319132541607184	0.73136	0.178462113079	0.20078	0.609115302563	0.54190	T	0.105002	0.41507	T	-0.0835018	0.39144	T	-0.357721	0.38315	T	0.895037472248077	0.54652	D	0.851615	0.53551	D	0.30168155	0.53055	0.26264593	0.52059	0.30168155	0.53055	0.26264593	0.52058	-5.432	0.42259	T	.	.	0.164	0.41480	B	.;.;.;.;.	.;.;.;.;.	3.784882	0.54441	23.5	0.95948747999416528	0.28264	0.98505	0.83492	D	AEFBI	0.889194	0.82303	D	-0.265840689192004	0.30476	1.699678	-0.066343519191984	0.36790	2.145664	0.999939626079273	0.46732	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	4.48	0.53973	8.809000	0.91566	9.325000	0.80080	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9316:0.0:0.0683:0.0	11.933	0.52142	765	0.49814	Gcp-like domain|Gcp-like domain;.;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-like domain;Gcp-like domain|Gcp-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1152.43	34	chr2	189755501	.	A	G	1152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.821;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.912;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	9	0	1	0
chr2	190294624	190294624	C	T	exonic	HIBCH	.	nonsynonymous SNV	HIBCH:NM_014362:exon4:c.G226A:p.E76K,HIBCH:NM_198047:exon4:c.G226A:p.E76K	3-hydroxyisobutryl-CoA hydrolase deficiency, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	952868	3-hydroxyisobutyryl-CoA_hydrolase_deficiency	Human_Phenotype_Ontology:HP:6000215,MONDO:MONDO:0009603,MedGen:C0342738,OMIM:250620,Orphanet:88639	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.657	0.0987548746421	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs778434126	1.305e-05	1.71e-05	1.23e-05	1.38e-05	0.0022	8.34e-06	6.72e-06	0.0012	0.0010	2.999e-05	0	0	0	0	0.0022	5.416e-06	1.663e-05	0	1.314e-05	1.313e-05	2.572e-05	0	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0	0.083	0.43085	T	0.268	0.22494	T	0.98	0.65571	D	0.753	0.56122	P	0.000000	0.84330	D	0.047076	1	0.81001	D	1.44	0.36004	L	-0.36	0.73523	T	-2.95	0.63323	D	0.904	0.91047	-0.0475	0.81260	T	0.456	0.78802	T	10	0.79898924	0.79329	D	0.098755	0.76995	D	0.657	0.87135	0.506	0.60078	0.892757099709	0.89169	0.831023251482803	0.83061	0.205256797494	0.22944	0.535796582699	0.43852	T	0.521707	0.92004	D	0.247592	0.78374	D	0.22553	0.84451	D	0.935854852199554	0.60440	D	0.985868	0.95230	D	0.8859431	0.90162	0.6520371	0.79637	0.8859431	0.90163	0.6520371	0.79638	-9.802	0.72718	D	0.3163981401283377	0.41444	0.418	0.66138	A	.;.;.	.;.;.	4.225085	0.63937	24.6	0.99891492711594565	0.96513	0.97481	0.75027	D	AEFBI	0.809437	0.73295	D	0.602451348370505	0.73329	5.948426	0.602602220248434	0.75127	6.25619	0.998787008920485	0.37667	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	6.876000	0.75358	5.945000	0.51547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.043	0.80498	511	0.75131	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	740.43	34	chr2	190294624	.	C	T	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.495;DP=413;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=1.34;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1095	9	0	1	0
chr2	190437203	190437203	C	T	exonic	MFSD6	.	nonsynonymous SNV	MFSD6:NM_001375987:exon2:c.C1174T:p.R392C,MFSD6:NM_001375989:exon2:c.C1174T:p.R392C,MFSD6:NM_001375990:exon2:c.C1174T:p.R392C,MFSD6:NM_001375986:exon3:c.C1174T:p.R392C,MFSD6:NM_001375988:exon3:c.C1174T:p.R392C,MFSD6:NM_001375992:exon3:c.C1174T:p.R392C,MFSD6:NM_017694:exon3:c.C1174T:p.R392C	.	435	1083	4	0	0	4	0.00184332	.	.	.	3446711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0680465331112	7.7e-05	.	7.416e-05	9.612e-05	8.645e-05	0	0	0.0001	0	0	9.7e-05	15	154602	rs368765746	6.635e-05	6.635e-05	6.534e-05	6.738e-05	0.0029	5.561e-05	5.152e-05	0.0019	0.0015	8.961e-05	0.0003	0	7.557e-05	0	0.0029	4.586e-05	0.0001	0	6.57e-05	6.567e-05	6.423e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	5.841e-05	4.238e-05	2.413e-05	0	6.545e-05	0	0	0	0	0.0001	0	0	0.01	0.56456	D	0.008	0.67890	D	0.998	0.73220	D	0.613	0.51171	P	0.000224	0.47286	D	0.217162	0.997102	0.43633	D	1.39	0.34934	L	-1.58	0.81987	D	-3.12	0.63782	D	0.332	0.37301	-0.1257	0.79502	T	0.441	0.77909	T	10	0.39671633	0.55279	T	0.068047	0.70339	D	0.420	0.72930	.	.	0.723527460954	0.72108	0.7873653540548109	0.78688	1.12360715339	0.78375	0.402991592884	0.25486	T	0.062561	0.31948	T	-0.118679	0.33341	T	-0.106529	0.62886	T	0.226155827918212	0.21767	T	0.943606	0.78679	D	0.10353159	0.24472	0.11786497	0.28451	0.10353159	0.24472	0.11786497	0.28450	-7.862	0.60126	D	.	.	0.113	0.22464	B	.;.	.;.	5.372535	0.90062	31	0.9992037126755613	0.98721	0.98231	0.80757	D	AEFBI	0.704587	0.66026	D	0.437868019542799	0.63519	4.587095	0.538613041112904	0.70608	5.530416	0.999999665565703	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.16	6.16	0.99302	3.547000	0.53416	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.848	0.96719	696	0.58299	Major facilitator superfamily associated domain;Major facilitator superfamily associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2344.43	47	chr2	190437203	.	C	T	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=598;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.06;SOR=0.778	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr2	195884779	195884779	C	T	exonic	DNAH7	.	nonsynonymous SNV	DNAH7:NM_018897:exon35:c.G5569A:p.V1857I	.	466	1041	14	1	0	16	0.00762631	.	.	.	697221	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.053	.	0.0003	0.0105831	0.0087	0.0006	0.0004	0.0002	0	9.044e-05	0.0078	0.0619	0.0073479	1136	154602	rs371128668	0.0038	0.0038	0.0021	0.0056	0.0609	0.0037	0.0037	0.0595	0.0589	0.0006	0.0001	0	7.562e-05	0	0.0020	6.836e-05	0.0038	0.0609	0.0021	0.0021	0.0012	0.0030	0.0597	0.0019	0.0018	0.0540	0.0518	0.0005	0	6.538e-05	0	0.0002	0	0	8.819e-05	0.0024	0.0597	0.901	0.02418	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	0.298933	0.14633	N	0.643829	1	0.08975	N	0.615	0.15706	N	1.66	0.27486	T	0.38	0.03579	N	0.068	0.04072	-0.9412	0.42426	T	0.034	0.14509	T	10	0.0023809373	0.00035	T	.	.	.	0.053	0.14996	.	.	0.0611884634855	0.05136	0.12021172524814233	0.11948	0.0265718611152	0.02714	0.218964636326	0.01251	T	0.007498	0.06902	T	-0.725743	0.00025	T	-0.770465	0.02753	T	0.0032411841348805	0.00034	T	0.564843	0.19943	T	0.02675629	0.01773	0.0422598	0.04993	0.02675629	0.01773	0.0422598	0.04993	-3.478	0.16125	T	.	.	0.074	0.05231	B	.	.	-1.431889	0.00338	0.006	0.66783061910713892	0.08160	0.03804	0.09135	N	AEFBI	0.060745	0.11567	N	-1.93493193972938	0.00291	0.01247354	-1.97655368522526	0.00343	0.01514999	0.936005352861705	0.27236	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	-11.5	0.00057	-1.135000	0.03337	-12.599000	0.00513	-2.821000	0.00180	0.000000	0.06391	0.000000	0.08366	0.904000	0.43992	0.0:0.8015:0.0744:0.1241	18.906	0.92436	918	0.19598	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.034091	0.05	572.43	35	chr2	195884779	.	C	T	572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.213;DP=366;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.496;SOR=0.361	GT:AD:DP:GQ:PL	0/1:22,24:46:99:584,0,492	9	0	1	0
chr2	196718561	196718561	A	G	exonic	CCDC150	.	nonsynonymous SNV	CCDC150:NM_001353340:exon2:c.A149G:p.N50S,CCDC150:NM_001353339:exon13:c.A866G:p.N289S,CCDC150:NM_001080539:exon18:c.A1925G:p.N642S	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00641227685747	.	.	1.677e-05	0	0	0	0	3.025e-05	0	0	1.29e-05	2	154602	rs749813391	7.526e-06	7.524e-06	4.084e-06	1.1e-05	0.0002	4.04e-06	2.95e-06	2.62e-06	1.68e-06	0	2.236e-05	0	0	0	0.0002	6.296e-06	1.657e-05	1.16e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0001	8.14e-06	5.14e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	2.94e-05	0	0	0.08	0.50132	T	0.021	0.58089	D	0.072	0.23997	B	0.015	0.17295	B	0.003892	0.34365	N	0.237616	1	0.08975	N	0	0.06538	N	0.89	0.45636	T	-0.49	0.27259	N	0.226	0.29889	-1.0477	0.15045	T	0.049	0.20789	T	10	0.08833024	0.15200	T	0.006412	0.16870	T	0.045	0.12272	0.086	0.00867	0.0138822411134	0.00435	0.04173846310242733	0.04118	0.0305988317187	0.03166	0.310817450285	0.12031	T	0.005067	0.16191	T	-0.375691	0.03316	T	-0.694565	0.06128	T	0.0579820610582829	0.06847	T	0.842916	0.51943	T	0.042099994	0.06324	0.054529574	0.09397	0.042099994	0.06324	0.054529574	0.09397	-6.132	0.47371	T	.	.	0.087	0.12037	B	.;.	.;.	1.110043	0.14954	11.46	0.91827322980910575	0.21137	0.36319	0.25506	N	AEFDBIJ	0.118848	0.23223	N	-0.772427056271578	0.14031	0.6957401	-0.701539202168258	0.16922	0.8974615	0.999992723299229	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.7	3.53	0.39533	2.130000	0.41687	5.781000	0.49805	0.756000	0.94297	0.604000	0.27780	1.000000	0.68203	0.001000	0.02609	0.8077:0.1923:0.0:0.0	8.678	0.33351	236	0.90801	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003817	0.05	1047.43	35	chr2	196718561	.	A	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=420;ExcessHet=0;FS=2.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-1.639;SOR=1.015	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	9	0	1	0
chr2	197013669	197013669	G	A	exonic	ANKRD44	.	nonsynonymous SNV	ANKRD44:NM_001195144:exon18:c.C1766T:p.S589L,ANKRD44:NM_001367495:exon18:c.C1820T:p.S607L,ANKRD44:NM_001367496:exon18:c.C1766T:p.S589L,ANKRD44:NM_001367497:exon18:c.C1766T:p.S589L	.	441	1080	1	0	0	1	0.000462749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0187938808886	7.7e-05	0.000199681	0.0001	0	0	0.0009	0	1.501e-05	0.0011	0.0002	9.7e-05	15	154602	rs145893149	5.816e-05	5.814e-05	3.54e-05	8.114e-05	0.0005	4.81e-05	4.432e-05	0.0003	0.0002	2.987e-05	2.236e-05	0	0.0005	3.744e-05	0.0004	2.248e-05	8.283e-05	0.0004	3.284e-05	3.281e-05	2.57e-05	4.03e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.384e-05	2.407e-05	0	0	0	0.0006	0	0	0	0	0.0002	0.229	0.18371	T	0.673	0.06245	T	.	.	.	.	.	.	0.002192	0.37053	N	0.232357	0.846846	0.35156	D	0.625	0.15840	N	-0.13	0.64818	T	-2.14	0.48523	N	0.544	0.57092	-0.9503	0.40920	T	0.115	0.40875	T	10	0.043186456	0.03141	T	0.018794	0.40966	T	0.094	0.27141	.	.	0.59594264156	0.59273	0.2429055142058824	0.24204	.	.	0.674703776836	0.63510	T	0.034552	0.23366	T	-0.284213	0.10226	T	-0.270183	0.47801	T	0.0214450245967606	0.00847	T	0.964504	0.93484	D	0.1692521	0.37431	0.17887364	0.40585	0.1692521	0.37431	0.17887364	0.40584	-10.097	0.74490	D	.	.	0.184	0.42906	B	.;.;.;.;.	.;.;.;.;.	4.645306	0.73998	26.1	0.99191593003987577	0.54994	0.93754	0.59096	D	AEFBI	0.491088	0.52829	N	-0.00630709823642558	0.41570	2.488782	0.12080327781263	0.45614	2.821486	0.814429655860507	0.24413	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.43	4.43	0.52967	5.166000	0.64807	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:1.0:0.0	17.265	0.86969	405	0.82444	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1299.43	33	chr2	197013669	.	G	A	1299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.86;DP=419;ExcessHet=0;FS=5.223;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.541;SOR=1.252	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1093	9	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1527.34	112	chr2	197523648	.	T	C	1527.34	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.265;DP=605;ExcessHet=4.5998;FS=381.692;InbreedingCoeff=-0.601;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.23;ReadPosRankSum=1.14;SOR=10.505	GT:AD:DP:GQ:PL	./.:24,0:24:0:0,0,435	1	0	6	3
chr2	199819526	199819526	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.442_443insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0174	0.0077	0	0	.	0.0237	0.0128	0.0161	0.0008452	22	26028	rs761406357	0.0044	0.0080	0.0044	0.0044	0.0053	0.0043	0.0042	0.0051	0.0050	0.0032	0.0029	0.0074	0.0005	0.0037	0.0047	0.0053	0.0050	0.0023	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	9.76e-05	0.0001	0	0.0001	0.0003	0	0.0005	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1766.4	44	chr2	199819526	.	T	TAA	1766.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.524;DP=324;ExcessHet=8.8523;FS=0;InbreedingCoeff=-0.6077;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=0.391;SOR=0.667	GT:AD:DP:GQ:PL	0/0:16,2:25:87:106,87,577	9	0	1	0
chr2	199819637	199819637	C	T	exonic	FTCDNL1	.	nonsynonymous SNV	FTCDNL1:NM_001350853:exon4:c.G332A:p.R111K,FTCDNL1:NM_001363886:exon4:c.G332A:p.R111K	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00422175786893	.	0.000199681	0.0008	0	0	0	.	0.0011	0	0.0008	6.47e-05	10	154602	rs547561715	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	0	2.881e-05	0.0011	0	0	0.0005	8.207e-05	0.0002	0.0012	6.569e-05	6.563e-05	8.997e-05	4.03e-05	0.0006	3.516e-05	2.615e-05	0.0002	8.996e-05	0	0	0	0.0009	0	0	0	5.883e-05	0	0.0006	1.0	0.00964	T	0.691	0.06469	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.03	0.76430	T	-0.5	0.15782	N	0.097	0.07949	.	.	.	.	.	.	.	0.016528368	0.00349	T	0.004222	0.10184	T	.	.	.	.	0.714162121074	0.71165	0.26982246079407146	0.26895	.	.	.	.	.	0.198652	0.55569	T	-0.418268	0.01755	T	-0.456622	0.26969	T	.	.	.	0.472453	0.14032	T	0.04414074	0.07004	0.11677036	0.28190	0.04414074	0.07003	0.11677036	0.28189	-3.943	0.22948	T	.	.	0.124	0.27252	B	.;.	.;.	0.813820	0.11849	8.416	0.55353456949154833	0.05325	0.04586	0.10236	N	AEFDBI	0.062011	0.11895	N	.	.	.	.	.	.	0.999125784702486	0.38507	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.0	3.13	0.35090	0.380000	0.20331	2.085000	0.30516	-0.176000	0.10722	0.275000	0.25094	0.868000	0.27561	0.336000	0.25340	0.0:0.6806:0.0:0.3194	6.242	0.20005	649	0.63102	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1030.43	38	chr2	199819637	.	C	T	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=453;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=0.185;SOR=0.858	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	9	0	1	0
chr2	201258305	201258305	C	G	exonic	CASP8	.	nonsynonymous SNV	CASP8:NM_001080125:exon1:c.C74G:p.P25R	Hepatocellular carcinoma, somatic	0	1516	6	0	0	6	0.00197498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00341644650533	0.0002	0.000199681	0.0002	0	0	0	0	0.0004	0.0011	0	0.000207	32	154602	rs34210251	0.0002	0.0002	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	2.236e-05	0.0029	2.519e-05	0	0.0016	9.353e-05	0.0004	5.797e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.7e-05	9.048e-05	7.012e-05	0	0	0	0.0035	0.0002	0	0.0034	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	0.899	0.49514	P	0.592	0.50503	P	0.004482	0.01028	U	18.659400	1	0.18198	N	.	.	.	4.24	0.02590	T	-0.01	0.07155	N	0.135	0.13198	-1.0078	0.27603	T	0.016	0.06711	T	9	0.009954512	0.00223	T	0.003416	0.07664	T	0.048	0.13305	.	.	0.620835944356	0.61775	0.1330555284189671	0.13229	1.01308813769	0.74840	0.241224437952	0.02902	T	.	.	.	-0.356653	0.04322	T	-0.470649	0.25446	T	0.13392797263969	0.15740	T	0.29847	0.05558	T	.	.	.	.	.	.	.	.	-3.717	0.19569	T	.	.	0.067	0.02578	B	.	.	0.026058	0.04465	1.184	0.99246078691032391	0.56727	0.03557	0.08760	N	ALL	0.050365	0.08796	N	-0.373260483198781	0.26426	1.442093	-0.571576646970454	0.20236	1.089296	0.999999999999994	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.587068	0.30358	0	0.372554	0.06265	0	.	.	3.94	2.06	0.25932	-0.520000	0.06338	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7459:0.0:0.2541	5.801	0.17677	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1606.43	35	chr2	201258305	.	C	G	1606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.984;DP=482;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.507;SOR=0.657	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,109,1418	9	0	1	0
chr2	201492473	201492473	A	G	exonic	C2CD6	.	nonsynonymous SNV	C2CD6:NM_001168221:exon15:c.T3868C:p.F1290L	.	521	990	11	0	0	11	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.00159744	0.0065	0.0006	0.0199	0	0	0.0015	0.0140	0.0130	0.0010349	160	154602	rs184129762	0.0015	0.0014	0.0011	0.0019	0.0143	0.0014	0.0014	0.0118	0.0114	0.0002	0.0010	3.989e-05	2.811e-05	5.722e-05	0.0143	0.0008	0.0018	0.0123	0.0010	0.0010	0.0008	0.0011	0.0108	0.0008	0.0008	0.0084	0.0076	0.0001	0.0055	0.0006	0	0	9.43e-05	0.0034	0.0010	0.0024	0.0108	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.24	0.36691	T	2.14	0.00347	N	0.066	0.03841	-0.9864	0.33494	T	0.034	0.14769	T	9	0.002725631	0.00042	T	.	.	.	0.042	0.11227	0.213	0.13210	0.0401082797425	0.02173	0.020741532748635407	0.02027	0.15686944455	0.17710	0.318503677845	0.13194	T	.	.	.	-0.712102	0.00031	T	-0.784631	0.02316	T	0.000877498213199432	0.00008	T	0.382862	0.09330	T	.	.	.	.	.	.	.	.	-3.04	0.10618	T	.	.	0.337	0.55713	B	.	.	0.905654	0.12797	9.314	0.71116001165546405	0.09520	0.00296	0.01581	N	AEFBI	0.022213	0.01082	N	-1.01495353258299	0.08293	0.3883259	-0.902287385471047	0.12041	0.6170562	2.09519457158267E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.23	2.04	0.25787	0.661000	0.24706	.	.	-0.274000	0.06627	0.001000	0.13787	0.970000	0.29701	0.899000	0.43558	0.2915:0.0:0.5406:0.1679	4.590	0.11694	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009511	0.000000	0.000000	0.011905	0.000000	0.000000	0.017857	0.027027	0.05	1324.43	34	chr2	201492473	.	A	G	1324.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.566;DP=439;ExcessHet=0;FS=3.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=1.78;SOR=0.78	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1326	9	0	1	0
chr2	202300260	202300260	G	C	exonic	NOP58	.	nonsynonymous SNV	NOP58:NM_015934:exon13:c.G1295C:p.G432A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.00903805236388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774262804	1.387e-06	1.368e-06	0	2.788e-06	1.226e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.681e-05	1.226e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.84330	D	0.046377	1	0.81001	D	1.16	0.29674	L	0.37	0.57729	T	1.66	0.00606	N	0.229	0.25745	-1.0421	0.16681	T	0.085	0.33213	T	10	0.09897745	0.17931	T	0.009038	0.23797	T	0.169	0.43123	0.205	0.12076	0.687329536467	0.68465	0.31149412060831727	0.31062	0.423483163706	0.42806	0.74698060751	0.74001	T	0.010677	0.09617	T	-0.0166128	0.49336	T	-0.146685	0.59536	T	0.371074169874191	0.27839	T	0.858514	0.54939	D	0.2876769	0.51776	0.21819672	0.46513	0.2876769	0.51776	0.21819672	0.46512	-1.574	0.01922	T	.	.	0.101	0.17615	B	.	.	2.110775	0.26865	17.26	0.28233997469821176	0.01440	0.98666	0.85331	D	AEFGBI	0.721705	0.67186	D	-0.215885754915412	0.32481	1.832295	0.0403609731327027	0.41609	2.502617	0.999999812365878	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	4.99	0.65942	5.011000	0.63768	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8617:0.1383	15.552	0.75899	208	0.91895	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	491.43	38	chr2	202300260	.	G	C	491.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=305;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.497;SOR=0.91	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,557	9	0	1	0
chr2	202821479	202821479	T	C	exonic	ICA1L	.	nonsynonymous SNV	ICA1L:NM_001288624:exon3:c.A238G:p.I80V,ICA1L:NM_001288622:exon4:c.A238G:p.I80V,ICA1L:NM_001288623:exon4:c.A238G:p.I80V,ICA1L:NM_138468:exon5:c.A238G:p.I80V	.	437	1050	33	2	0	37	0.017314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0027	0.00299521	0.0038	0.0009	0.0046	0	0	0.0044	0.0078	0.0061	0.0037451	579	154602	rs144482724	0.0035	0.0035	0.0033	0.0036	0.0155	0.0034	0.0033	0.0129	0.0120	0.0010	0.0042	0.0112	2.535e-05	0.0004	0.0155	0.0033	0.0043	0.0062	0.0028	0.0028	0.0030	0.0026	0.0039	0.0026	0.0025	0.0035	0.0034	0.0009	0	0.0029	0.0098	0	0.0006	0.0170	0.0039	0.0062	0.0039	0.035	0.50676	D	0.008	0.72224	D	0.004	0.12183	B	0.009	0.14300	B	0.000505	0.43753	N	0.209861	1	0.81001	D	0.69	0.16971	N	-1.04	0.76561	T	-0.85	0.24026	N	0.095	0.07535	-0.9435	0.42057	T	0.114	0.40605	T	10	0.010987043	0.00242	T	.	.	.	0.161	0.41658	.	.	0.65404562455	0.65116	0.2827756610626727	0.28190	0.127220965103	0.14337	0.415514528751	0.27218	T	0.053694	0.29549	T	-0.424201	0.01609	T	-0.378944	0.35847	T	0.00587731285849128	0.00064	T	0.578142	0.21082	T	0.058083612	0.11641	0.074363604	0.16259	0.058083612	0.11641	0.074363604	0.16259	-3.237	0.26286	T	.	.	0.088	0.14293	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.060043	0.26190	17.03	0.98756593559104555	0.45739	0.80609	0.40202	D	AEFI	0.445910	0.50219	N	-0.394280166996794	0.25672	1.395341	-0.23245328244914	0.30381	1.710069	9.56336154837546E-4	0.08054	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.84	2.03	0.25714	-0.059000	0.11688	.	.	0.665000	0.62972	0.232000	0.24664	0.696000	0.26205	0.999000	0.91618	0.1493:0.1653:0.1552:0.5302	1.124	0.01624	754	0.51307	Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;.;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain;Arfaptin homology (AH) domain|Arfaptin homology (AH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.015152	0.013587	0.014620	0.000000	0.017241	0.027607	0.015152	0.05	352.43	35	chr2	202821479	.	T	C	352.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.706;DP=318;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.686;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,988	9	0	1	0
chr2	202884286	202884286	A	C	exonic	WDR12	.	nonsynonymous SNV	WDR12:NM_001371664:exon9:c.T486G:p.F162L,WDR12:NM_018256:exon10:c.T900G:p.F300L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0122094918585	0.0005	0.000399361	0.0006	0.0002	8.645e-05	0	0	0.0004	0.0011	0.0030	0.0005563	86	154602	rs147837574	0.0006	0.0006	0.0006	0.0007	0.0027	0.0006	0.0006	0.0024	0.0023	0.0001	0.0002	0	0	1.872e-05	0.0002	0.0006	0.0006	0.0027	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	0.0002	0	0.0001	0	0	0	0	0.0007	0	0.0017	0.008	0.58626	D	0.182	0.29249	T	0.664	0.41009	P	0.373	0.43650	B	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	0.365	0.12025	N	0.28	0.59037	T	-4.35	0.76900	D	0.834	0.82964	-1.0486	0.14790	T	0.110	0.39675	T	10	0.06545541	0.08833	T	0.012209	0.30578	T	0.280	0.59740	0.484	0.56621	0.699443158265	0.69684	0.4885894034699096	0.48778	0.120734834091	0.13598	0.845123112202	0.88876	D	0.150941	0.49065	T	-0.19783	0.21117	T	-0.0603105	0.66310	T	0.0486318625045405	0.05257	T	0.913309	0.69109	D	0.568922	0.71001	0.47388533	0.69506	0.568922	0.71002	0.47388533	0.69507	-9.55	0.71170	D	.	.	0.989	0.93356	P	.	.	3.836355	0.55490	23.6	0.99139938576630637	0.53491	0.94073	0.60031	D	AEDGBI	0.639303	0.61741	D	-0.0405763841153613	0.40024	2.369959	0.0891471637106914	0.43999	2.690389	0.124591792748032	0.16961	0.743674	0.98306	0	0.724815	0.89359	0	0.724815	0.87919	0	0.584449	0.35598	0	.	.	5.74	4.56	0.55644	2.770000	0.47346	.	.	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8586:0.0:0.1414:0.0	9.201	0.36422	507	0.75469	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1557.43	36	chr2	202884286	.	A	C	1557.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-2.224;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	9	0	1	0
chr2	202967049	202967049	G	A	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon7:c.G640A:p.E214K,CARF:NM_001352676:exon7:c.G346A:p.E116K,CARF:NM_001282910:exon8:c.G676A:p.E226K,CARF:NM_001322429:exon8:c.G868A:p.E290K,CARF:NM_001352677:exon8:c.G598A:p.E200K,CARF:NM_001104586:exon9:c.G904A:p.E302K,CARF:NM_001282911:exon9:c.G676A:p.E226K,CARF:NM_001322428:exon9:c.G904A:p.E302K,CARF:NM_001322427:exon10:c.G904A:p.E302K,CARF:NM_024744:exon10:c.G904A:p.E302K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.00416946564873	.	0.000199681	8.282e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs201904518	3.421e-06	3.42e-06	1.361e-06	5.501e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	0	2.319e-05	1.313e-05	1.313e-05	0	2.686e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.012	0.54683	D	0.0	0.92824	D	0.016	0.17332	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	0.999988	0.81001	D	1.645	0.42016	L	.	.	.	-0.89	0.24026	N	0.827	0.82257	-0.8849	0.49365	T	0.198	0.55343	T	9	0.2931259	0.46888	T	0.004169	0.10026	T	0.346	0.66769	.	.	0.311691414656	0.30774	0.5454094215303459	0.54466	0.231032687938	0.25652	0.69238960743	0.66049	T	0.194056	0.54971	T	0.282423	0.81522	D	0.264759	0.86317	D	0.453960210084915	0.30943	T	0.925907	0.72722	D	0.3833978	0.59562	0.32327121	0.58260	0.3833978	0.59562	0.32327121	0.58260	-8.3	0.65155	D	.	.	0.247	0.48209	B	.;.;.;.;.	.;.;.;.;.	4.394433	0.67843	25.2	0.99741593998954514	0.83555	0.97591	0.75757	D	AEFDGBI	0.892305	0.82910	D	0.188076034654368	0.50626	3.250845	0.398218376464527	0.61456	4.345796	0.999999978975872	0.74766	0.615465	0.37627	0	0.667123	0.63270	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.95	5.95	0.96415	7.703000	0.83561	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.381	0.94526	468	0.78227	Calcium-responsive transcription factor;.;Calcium-responsive transcription factor;.;Calcium-responsive transcription factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	476.43	33	chr2	202967049	.	G	A	476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.9;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.51;ReadPosRankSum=2.14;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1032	9	0	1	0
chr2	202983529	202983529	A	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001352679:exon13:c.A1051T:p.I351F,CARF:NM_001282912:exon14:c.A1819T:p.I607F,CARF:NM_001352676:exon14:c.A1525T:p.I509F,CARF:NM_001352678:exon14:c.A1051T:p.I351F,CARF:NM_001282910:exon15:c.A1855T:p.I619F,CARF:NM_001322429:exon15:c.A2047T:p.I683F,CARF:NM_001104586:exon16:c.A2083T:p.I695F,CARF:NM_001282911:exon16:c.A1855T:p.I619F,CARF:NM_001322428:exon16:c.A2083T:p.I695F,CARF:NM_001322427:exon17:c.A2083T:p.I695F,CARF:NM_024744:exon17:c.A2083T:p.I695F	.	447	1069	6	0	0	6	0.00279851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.00300504959566	0.0002	.	0.0003	0	0.0002	0	0	4.531e-05	0	0.0019	0.0002587	40	154602	rs201849758	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	0	0.0001	7.676e-05	0	0	0.0012	9.374e-05	0.0003	0.0019	0.0001	0.0001	0.0001	0.0002	0.0019	9.151e-05	7.706e-05	0.0010	0.0007	7.236e-05	0	0	0	0	0	0.0032	0.0001	0.0005	0.0019	0.005	0.63226	D	0.326	0.18789	T	0.013	0.16609	B	0.007	0.12992	B	0.000629	0.42799	D	0.104288	0.573	0.32313	D	2.28	0.64929	M	.	.	.	-0.72	0.20358	N	0.274	0.42834	-0.9403	0.42568	T	0.107	0.38832	T	9	0.016831487	0.00356	T	0.003005	0.06427	T	0.173	0.43840	.	.	0.250039746154	0.24611	0.24507498920419754	0.24421	0.317966989377	0.34026	0.341754376888	0.16701	T	0.131616	0.46122	T	-0.311242	0.07639	T	-0.227117	0.52051	T	0.0734342166171135	0.09124	T	0.839916	0.51465	T	0.15259795	0.34633	0.08874653	0.20711	0.15259795	0.34633	0.08874653	0.20711	-3.78	0.20506	T	.	.	0.080	0.13783	B	.;.;.;.;.	.;.;.;.;.	1.601493	0.20470	14.77	0.95508755904834319	0.27110	0.62598	0.31830	D	AEFGI	0.119999	0.23396	N	-0.368050891942807	0.26615	1.453846	-0.234159537018009	0.30322	1.706	5.69325078014256E-4	0.07335	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.63	3.47	0.38831	0.430000	0.21147	.	.	0.756000	0.94297	0.908000	0.31627	0.224000	0.23735	0.990000	0.65344	0.9066:0.0:0.0934:0.0	8.101	0.30015	457	0.78953	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	830.43	34	chr2	202983529	.	A	T	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.145;DP=375;ExcessHet=0;FS=9.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.811;SOR=0.176	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,962	9	0	1	0
chr2	203126610	203126610	T	G	exonic	NBEAL1	.	nonsynonymous SNV	NBEAL1:NM_001114132:exon21:c.T2952G:p.I984M,NBEAL1:NM_001378026:exon22:c.T3039G:p.I1013M	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0147456941978	.	.	6.504e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs755153993	6.209e-05	6.156e-05	6.467e-05	5.942e-05	0.0011	5.136e-05	4.732e-05	0.0005	0.0003	3.287e-05	0	0	0	0	0.0011	5.996e-05	0.0002	0	5.91e-05	5.906e-05	2.57e-05	9.399e-05	0.0002	3.075e-05	2.209e-05	5.279e-05	2.833e-05	2.405e-05	0	0.0002	0	0	0	0	7.353e-05	0	0	1.0	0.00964	T	0.832	0.03695	T	0.463	0.36407	P	0.137	0.33328	B	.	.	.	.	0.954777	0.37893	D	1.415	0.35607	L	0.59	0.53943	T	-0.04	0.07590	N	0.3	0.33904	-1.0533	0.13493	T	0.093	0.35363	T	9	0.0771811	0.12150	T	0.014746	0.35069	T	0.211	0.50185	0.494	0.58206	0.304760801415	0.30091	0.3133861643463346	0.31251	0.183211065097	0.20607	0.46776214242	0.34373	T	0.00188	0.01299	T	-0.169402	0.25324	T	-0.291374	0.45630	T	0.0628062031554027	0.07602	T	0.80002	0.44558	T	0.05478616	0.10559	0.07314752	0.15862	0.05478616	0.10559	0.07314752	0.15861	-5.903	0.45461	T	.	.	0.095	0.14751	B	.	.	1.712687	0.21810	15.36	0.14243817718411644	0.00308	0.80964	0.40471	D	AEFGBI	0.205785	0.33211	N	-0.236737945060357	0.31635	1.775931	-0.128084747845538	0.34262	1.968926	1.9112163646902E-4	0.05898	0.651	0.46895	0	0.588066	0.40923	0	0.573888	0.23631	0	0.683762	0.67416	0	.	.	4.94	3.78	0.42629	0.356000	0.19918	1.840000	0.29181	-0.183000	0.09960	0.998000	0.41325	1.000000	0.68203	0.996000	0.76049	0.1875:0.0839:0.0:0.7286	5.705	0.17176	347	0.85595	Domain of unknown function DUF4704	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003401	0.010309	0.008197	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	441.43	33	chr2	203126610	.	T	G	441.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.89;DP=359;ExcessHet=0;FS=2.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.574;SOR=0.352	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	9	0	1	0
chr2	203454473	203454473	C	T	exonic	RAPH1	.	nonsynonymous SNV	RAPH1:NM_213589:exon10:c.G1370A:p.R457Q,RAPH1:NM_001329728:exon12:c.G1526A:p.R509Q,RAPH1:NM_203365:exon12:c.G1526A:p.R509Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.0527243920483	.	.	8.725e-06	0	0	0	0	1.574e-05	0	0	6.5e-06	1	154602	rs768545801	3.421e-06	3.42e-06	4.085e-06	2.751e-06	4.473e-05	1e-06	7.3e-07	7.41e-06	2.77e-06	0	4.473e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.72154	D	0.01	0.69154	D	1.0	0.90584	D	0.968	0.71741	D	0.000378	0.45194	D	0.000000	0.999994	0.58761	D	1.915	0.51223	L	-0.92	0.75108	T	-2.84	0.60665	D	0.859	0.89020	0.034	0.82930	D	0.538	0.82941	D	10	0.8268504	0.81862	D	0.052724	0.65185	D	0.623	0.85406	0.509	0.60540	0.817334670928	0.81561	0.4663686137412945	0.46555	0.848943078135	0.68439	0.759454131126	0.75847	T	0.751073	0.93179	D	0.241763	0.77829	D	0.192365	0.82703	D	0.985839426517487	0.76713	D	0.969603	0.94028	D	0.7061124	0.78393	0.58117044	0.75722	0.7061124	0.78394	0.58117044	0.75723	-13.465	0.91188	D	.	.	0.196	0.58738	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.218768	0.87585	29.3	0.99950883948713753	0.99944	0.94909	0.62752	D	AEFBCI	0.876930	0.80124	D	0.787156191822736	0.85293	8.533668	0.819445457520896	0.91111	10.72429	0.999999999927494	0.74766	0.67177	0.52595	0	0.615948	0.52940	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.96	5.96	0.96695	7.905000	0.86479	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.422	0.99051	337	0.86119	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	563.43	33	chr2	203454473	.	C	T	563.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-1.087;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,958	9	0	1	0
chr2	205553363	205553363	C	T	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon21:c.C3013T:p.R1005C,PARD3B:NM_152526:exon21:c.C3034T:p.R1012C,PARD3B:NM_205863:exon21:c.C2917T:p.R973C,PARD3B:NM_001302769:exon22:c.C3220T:p.R1074C	.	422	1098	2	0	0	2	0.000909918	.	.	.	2341608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0356646746437	0.0002	.	9.125e-05	0.0001	0	0	0	9.001e-05	0	0.0002	9.06e-05	14	154602	rs201558826	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	9.901e-05	0.0002	0.0001	2.987e-05	2.236e-05	3.827e-05	0	1.872e-05	0	0.0001	6.624e-05	0.0003	5.91e-05	5.906e-05	5.139e-05	6.717e-05	0.0006	3.076e-05	2.209e-05	0.0002	9.007e-05	0	0	6.54e-05	0	0	0	0	7.35e-05	0	0.0006	0.008	0.65419	D	0.021	0.58089	D	0.999	0.90584	D	0.642	0.62312	P	0.000085	0.51296	D	0.000000	0.999571	0.47641	D	2.175	0.60977	M	2.64	0.15261	T	-1.59	0.44657	N	0.513	0.54409	-1.1002	0.04067	T	0.085	0.33185	T	10	0.22637329	0.39491	T	0.035665	0.56494	D	0.165	0.42395	.	.	0.602055327248	0.59887	0.18788060557187622	0.18706	0.0824676679506	0.09304	0.368152081966	0.20567	T	0.010416	0.22540	T	-0.207452	0.19739	T	-0.261467	0.48677	T	0.33562383055687	0.26449	T	0.90001	0.78180	D	0.105628766	0.24975	0.06617693	0.13520	0.105628766	0.24975	0.06617693	0.13520	-6.984	0.54551	T	.	.	0.110	0.35788	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.845233	0.55667	23.6	0.99778477912705876	0.86519	0.93813	0.59265	D	AEFDBI	0.638381	0.61682	D	0.26432089690181	0.54351	3.600869	0.23079945285497	0.51564	3.337891	0.999477267809573	0.39898	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.61	4.73	0.59485	4.840000	0.62513	3.337000	0.37675	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.1481:0.8519:0.0:0.0	14.354	0.66289	803	0.44167	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1140.43	46	chr2	205553363	.	C	T	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.51;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.688;SOR=0.748	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr2	205723842	205723842	C	T	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_003872:exon5:c.C722T:p.S241L,NRP2:NM_018534:exon5:c.C722T:p.S241L,NRP2:NM_201264:exon5:c.C722T:p.S241L,NRP2:NM_201266:exon5:c.C722T:p.S241L,NRP2:NM_201267:exon5:c.C722T:p.S241L,NRP2:NM_201279:exon5:c.C722T:p.S241L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0134727881014	.	0.000199681	8.268e-06	9.681e-05	0	0	0	0	0	0	1.29e-05	2	154602	rs563060469	7.525e-06	7.524e-06	6.806e-06	8.25e-06	9.892e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	0	0	1.313e-05	1.312e-05	1.284e-05	1.343e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.17	0.47336	T	0.805	0.61118	P	0.232	0.59116	B	0.000124	0.49741	D	0.216109	0.996668	0.43340	D	1.685	0.43254	L	2.14	0.19450	T	-2.04	0.47008	N	0.401	0.44187	-1.0736	0.08639	T	0.124	0.42736	T	10	0.27867466	0.45438	T	0.013473	0.32898	T	0.226	0.52472	0.547	0.66156	0.660312480537	0.65746	0.43000235512231394	0.42917	0.315069041011	0.33789	0.498960494995	0.38683	T	0.121255	0.44409	T	-0.23325	0.16221	T	-0.391296	0.34400	T	0.570491313934326	0.35253	D	0.931507	0.90777	D	0.2108318	0.43391	0.34098762	0.59844	0.2108318	0.43391	0.34098762	0.59843	-12.447	0.87010	D	.	.	0.108	0.36436	B	.;.;.;.;.;.	.;.;.;.;.;.	5.386420	0.90253	31	0.99913782345497637	0.98238	0.95415	0.64630	D	AEFBI	0.678985	0.64317	D	0.492042069422919	0.66623	4.974263	0.463287742726544	0.65576	4.841095	0.999999999996726	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.170000	0.71810	4.894000	0.45793	0.596000	0.33519	0.981000	0.35396	1.000000	0.68203	0.542000	0.29985	0.0:1.0:0.0:0.0	20.296	0.98558	861	0.33516	CUB domain|CUB domain|CUB domain|CUB domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2026.43	161	chr2	205723842	.	C	T	2026.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=471;ExcessHet=0;FS=2.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.445;SOR=0.503	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1325	9	0	1	0
chr2	205743409	205743409	G	A	exonic	NRP2	.	nonsynonymous SNV	NRP2:NM_003872:exon9:c.G1498A:p.G500S,NRP2:NM_018534:exon9:c.G1498A:p.G500S,NRP2:NM_201264:exon9:c.G1498A:p.G500S,NRP2:NM_201266:exon9:c.G1498A:p.G500S,NRP2:NM_201267:exon9:c.G1498A:p.G500S,NRP2:NM_201279:exon9:c.G1498A:p.G500S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.50506249899	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs745533260	4.788e-06	4.788e-06	4.084e-06	5.5e-06	1.159e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	1.159e-05	1.314e-05	1.313e-05	2.568e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.015	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-5.58	0.99210	D	-5.15	0.83357	D	0.957	0.97317	1.094	0.99408	D	0.980	0.99369	D	10	0.962819	0.95714	D	0.505062	0.95213	D	0.793	0.93188	0.75	0.88071	0.990142331674	0.99003	0.7896376435964291	0.78915	0.541343025859	0.51294	0.64315533638	0.59013	T	0.767173	0.93739	D	0.499305	0.94271	D	0.479441	0.94192	D	0.942790077658008	0.61731	D	0.998172	0.99209	D	0.6647794	0.76154	0.45738393	0.68467	0.6647794	0.76155	0.45738393	0.68467	-9.193	0.69089	D	.	.	0.407	0.65859	A	.;.;.;.;.;.	.;.;.;.;.;.	4.742069	0.76480	26.5	0.9979930544171508	0.88461	0.99432	0.95955	D	AEFDBI	0.938121	0.93686	D	0.769827470940052	0.84189	8.218887	0.697750132233972	0.82206	7.710477	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	9.922000	0.98774	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.0:0.0:1.0:0.0	20.393	0.98950	803	0.44167	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	753.43	47	chr2	205743409	.	G	A	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.672;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.133;SOR=0.756	GT:AD:DP:GQ:PL	0/1:38,31:69:99:765,0,937	9	0	1	0
chr2	206028142	206028142	C	T	exonic	INO80D	.	nonsynonymous SNV	INO80D:NM_017759:exon6:c.G1267A:p.E423K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0649719686952	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs765050811	7.817e-06	7.524e-06	4.211e-06	1.151e-05	0.0006	4.2e-06	3.07e-06	0.0002	8.955e-05	0	0	0	0	0	0.0006	4.615e-06	0	3.736e-05	1.97e-05	1.969e-05	1.285e-05	2.685e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	0.096	0.31088	T	0.427	0.30631	T	0.996	0.68779	D	0.99	0.78936	D	0.000162	0.48594	N	0.209814	0.999793	0.49177	D	1.555	0.39373	L	-1.2	0.78537	T	-0.96	0.25551	N	0.279	0.31590	-0.3387	0.73881	T	0.428	0.77068	T	10	0.2650975	0.44003	T	0.064972	0.69439	D	0.346	0.66769	0.382	0.39970	0.27715347029	0.27323	0.37718324947553705	0.37633	0.409882801041	0.41793	0.622163772583	0.56034	T	.	.	.	0.0358635	0.56501	T	-0.186261	0.55939	T	0.655664915879156	0.38707	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44475	B	.;.	.;.	3.358818	0.46356	22.3	0.99395537614506102	0.62565	0.95397	0.64560	D	AEFDBHI	0.505967	0.53689	D	-0.10177369008896	0.37316	2.16923	-0.165535910960763	0.32814	1.870682	0.999897000117707	0.45129	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.45	4.58	0.56077	4.577000	0.60633	5.939000	0.51448	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.9289:0.0:0.0711	14.477	0.67130	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3552.43	277	chr2	206028142	.	C	T	3552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.666;DP=590;ExcessHet=0;FS=1.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=1.22;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	9	0	1	0
chr2	206305194	206305194	C	A	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C666A:p.N222K,ZDBF2:NM_001369654:exon6:c.C666A:p.N222K,ZDBF2:NM_001285549:exon7:c.C660A:p.N220K	.	432	1061	27	2	0	31	0.0143985	.	.	.	2109272	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	0.0115230301471	0.0002	0.00159744	0.0017	0.0001	0.0022	0	0	0.0006	0.0034	0.0084	0.0014942	231	154602	rs200044367	0.0009	0.0009	0.0006	0.0012	0.0094	0.0009	0.0008	0.0088	0.0086	5.974e-05	0.0010	0.0013	5.038e-05	1.873e-05	0.0080	0.0003	0.0011	0.0094	0.0006	0.0006	0.0004	0.0008	0.0070	0.0005	0.0004	0.0052	0.0045	2.405e-05	0	0.0010	0.0009	0.0002	0	0.0068	0.0004	0.0009	0.0070	0.023	0.48186	D	0.158	0.31629	T	0.447	0.36006	B	0.146	0.33945	B	0.027166	0.25800	N	0.188694	1	0.08975	N	1.75	0.45442	L	2.34	0.16351	T	-3.28	0.65627	D	0.327	0.37197	-1.0159	0.25045	T	0.029	0.12278	T	10	0.0061847568	0.00139	T	0.011523	0.29227	T	0.037	0.09474	0.177	0.08379	0.194818534648	0.19098	0.08912010333343588	0.08845	0.162359928004	0.18315	0.281682133675	0.07728	T	0.049049	0.39302	T	-0.6015	0.00143	T	-0.630675	0.10364	T	0.0336020536051496	0.02571	T	.	.	.	0.13841118	0.32012	0.12605263	0.30363	0.13841118	0.32012	0.12605263	0.30362	-2.662	0.06989	T	.	.	0.216	0.47816	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.613284	0.20610	14.83	0.99684880871400117	0.79507	0.42900	0.26980	N	AEFBI	0.062519	0.12022	N	-0.231030919698507	0.31868	1.791223	-0.199562780340314	0.31554	1.78676	0.00761789160899349	0.11507	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.11	2.23	0.27189	-0.024000	0.12382	0.521000	0.19165	0.599000	0.40250	0.004000	0.16614	0.805000	0.26985	0.961000	0.51904	0.308:0.3827:0.1422:0.167	1.398	0.02128	885	0.28214	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.015152	0.05	1541.43	124	chr2	206305194	.	C	A	1541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.502;DP=818;ExcessHet=0;FS=8.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.028;SOR=0.908	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	9	0	1	0
chr2	206308643	206308643	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A4115G:p.D1372G,ZDBF2:NM_001369654:exon6:c.A4115G:p.D1372G,ZDBF2:NM_001285549:exon7:c.A4109G:p.D1370G	.	.	.	.	.	.	.	.	.	.	.	2286579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0121377284832	.	.	5.832e-05	0	0.0003	0	0	4.522e-05	0.0011	0	4.53e-05	7	154602	rs747341384	4.999e-05	4.994e-05	4.769e-05	5.231e-05	0.0014	4.063e-05	3.738e-05	0.0007	0.0005	2.987e-05	0.0003	0	0	0	0.0014	3.958e-05	9.94e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	5.289e-05	2.836e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.106	0.37872	T	0.675	0.41275	P	0.186	0.36104	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	0.58	0.54149	T	-3.5	0.68178	D	0.066	0.06720	-1.0398	0.17374	T	0.103	0.38069	T	9	0.099188596	0.17983	T	0.012138	0.30444	T	0.045	0.12272	0.157	0.06070	0.305730143919	0.30178	0.07278984605443199	0.07215	0.224327558168	0.24967	0.276559889317	0.07018	T	0.028315	0.33914	T	-0.439016	0.01311	T	-0.566671	0.15756	T	0.130620658397675	0.15440	T	.	.	.	0.076360874	0.17266	0.08782761	0.20439	0.076360874	0.17265	0.08782761	0.20439	-3.911	0.22467	T	.	.	0.102	0.21503	B	.;.;.;.	.;.;.;.	0.545565	0.09141	5.924	0.92398512855108461	0.21810	0.02254	0.06525	N	AEFBI	0.032979	0.03827	N	-0.708036008027068	0.15795	0.7991936	-0.872214299424559	0.12754	0.6579114	9.25399853482627E-5	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	3.63	0.044	0.13543	0.203000	0.17113	0.843000	0.22062	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.021000	0.11733	0.6349:0.0:0.365:0.0	5.707	0.17184	902	0.24074	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1389.43	74	chr2	206308643	.	A	G	1389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.838;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	9	0	1	0
chr2	206445465	206445465	T	G	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon2:c.T373G:p.S125A	.	428	1075	19	0	0	19	0.0087598	.	.	.	697266	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.154	0.0180538436402	0.0082	0.00179712	0.0050	0.0047	0.0026	0	0.0002	0.0076	0.0044	0.0012	0.0049805	770	154602	rs112012170	0.0061	0.0061	0.0063	0.0060	0.0142	0.0060	0.0060	0.0117	0.0108	0.0044	0.0028	0.0095	0	0.0007	0.0142	0.0070	0.0066	0.0013	0.0058	0.0058	0.0060	0.0056	0.0074	0.0055	0.0054	0.0069	0.0067	0.0059	0.0011	0.0058	0.0072	0	9.434e-05	0.0136	0.0074	0.0057	0.0008	0.296	0.14694	T	0.096	0.40267	T	0.392	0.34646	B	0.173	0.35463	B	0.000764	0.41888	D	0.000000	0.994944	0.42480	D	1.5	0.37844	L	4.61	0.01851	T	-1.42	0.34992	N	0.477	0.51851	-0.9058	0.47355	T	0.006	0.02055	T	10	0.0100236535	0.00224	T	0.018054	0.39980	T	0.154	0.40340	.	.	0.256237801699	0.25221	0.28698604468155353	0.28611	0.246457987376	0.27182	0.552425503731	0.46200	T	0.152794	0.49335	T	-0.511479	0.00492	T	-0.500942	0.22251	T	0.0228014413347231	0.01000	T	0.769523	0.39899	T	0.08802651	0.20520	0.06453053	0.12947	0.08802651	0.20519	0.06453053	0.12947	-4.263	0.27655	T	.	.	0.090	0.16054	B	.;.	.;.	3.116238	0.42050	21.5	0.98204040563044281	0.39149	0.94652	0.61868	D	AEFDBI	0.523575	0.54712	D	-0.183656896248011	0.33816	1.922784	-0.0396415167583486	0.37942	2.228468	0.999996670099584	0.74766	0.706298	0.61202	0	0.383324	0.06291	0	0.383324	0.06259	0	0.613276	0.41899	0	.	.	5.95	4.78	0.60666	5.831000	0.69032	1.926000	0.29741	-0.171000	0.11205	1.000000	0.71638	0.994000	0.32194	0.978000	0.57271	0.1252:0.0:0.0:0.8748	12.517	0.55383	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.010101	0.020380	0.017544	0.000000	0.017241	0.012195	0.000000	0.05	754.43	40	chr2	206445465	.	T	G	754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=455;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=-0.012;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1199	9	0	1	0
chr2	206542092	206542092	T	C	exonic	ADAM23	.	nonsynonymous SNV	ADAM23:NM_003812:exon5:c.T614C:p.V205A	.	439	1077	5	1	0	7	0.00323924	.	.	.	3641688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.00564519781935	.	.	7.414e-05	0	0	0	0	2.997e-05	0	0.0004	7.12e-05	11	154602	rs769187767	5.472e-05	5.472e-05	3.811e-05	7.15e-05	0.0006	4.477e-05	4.147e-05	0.0005	0.0004	5.974e-05	0	0	0	1.872e-05	0.0005	1.259e-05	0.0001	0.0006	3.943e-05	3.94e-05	5.139e-05	2.691e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.507	0.07594	T	0.527	0.10245	T	0.051	0.22415	B	0.063	0.27082	B	0.057706	0.22459	N	0.312329	0.882309	0.35776	D	1.51	0.38214	L	3.4	0.05642	T	-0.9	0.24244	N	0.408	0.45047	-1.0633	0.10950	T	0.016	0.06521	T	10	0.14694801	0.27852	T	0.005645	0.14591	T	0.088	0.25558	0.601	0.73226	0.20808081866	0.20439	0.3541212147936274	0.35326	0.0948372849257	0.10714	0.316456347704	0.12884	T	0.095473	0.39629	T	-0.470915	0.00839	T	-0.564782	0.15930	T	0.0529268742437473	0.06006	T	0.438156	0.14308	T	0.07653712	0.17315	0.08046198	0.18204	0.07653712	0.17314	0.08046198	0.18204	-5.31	0.40042	T	.	.	0.131	0.35225	B	.;.	.;.	2.282063	0.29178	18.04	0.59376626001953192	0.06210	0.89331	0.49731	D	AEFI	0.232850	0.35587	N	-0.412301727591572	0.25037	1.356207	-0.279211108739866	0.28784	1.607574	0.64664137323112	0.22113	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.07	5.07	0.68106	3.626000	0.53985	6.224000	0.55156	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.066000	0.16387	0.0:0.0:0.0:1.0	14.494	0.67255	871	0.31377	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	1168.43	38	chr2	206542092	.	T	C	1168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.933;DP=435;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-0.003;SOR=0.534	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1331	9	0	1	0
chr2	206665968	206665968	C	G	exonic	DYTN	.	nonsynonymous SNV	DYTN:NM_001093730:exon10:c.G1042C:p.E348Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00930373434843	.	.	1.658e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs775532913	2.737e-06	2.736e-06	2.723e-06	2.751e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	6.573e-06	6.567e-06	1.285e-05	0	6.552e-05	0	0	.	.	0	0	6.552e-05	0	0	0	0	0	0	0	0.005	0.63226	D	0.0	0.92824	D	0.987	0.61912	D	0.755	0.56206	P	.	.	.	.	0.990019	0.24225	N	2.045	0.56016	M	2.16	0.19166	T	-0.76	0.21215	N	0.275	0.31140	-1.0835	0.06683	T	0.055	0.23375	T	9	0.2451607	0.41760	T	0.009304	0.24413	T	0.090	0.26093	0.238	0.16912	0.0297737177859	0.01360	0.20812569252810936	0.20728	0.139407092502	0.15712	0.382192134857	0.22567	T	0.001838	0.01251	T	-0.198391	0.21036	T	-0.439886	0.28820	T	0.610861778259277	0.36835	D	0.535646	0.17968	T	0.13867933	0.32064	0.18826479	0.42106	0.13867933	0.32064	0.18826479	0.42105	-3.626	0.18233	T	.	.	0.115	0.23113	B	.	.	2.822021	0.37176	20.4	0.99605245807894094	0.74456	0.74477	0.36435	D	AEFI	0.138949	0.26039	N	0.0433833647759958	0.43838	2.669037	0.0220358919958373	0.40740	2.436196	0.0187803558019218	0.13095	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.88	4.01	0.45821	0.664000	0.24749	0.669000	0.20577	0.599000	0.40250	0.988000	0.36536	0.281000	0.24108	0.076000	0.17014	0.0:0.9004:0.0:0.0996	9.052	0.35545	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1497.43	33	chr2	206665968	.	C	G	1497.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=433;ExcessHet=0;FS=5.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=1.53;SOR=1.031	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1257	9	0	1	0
chr2	208243587	208243587	T	C	exonic	IDH1	.	nonsynonymous SNV	IDH1:NM_001282386:exon6:c.A538G:p.M180V,IDH1:NM_001282387:exon6:c.A538G:p.M180V,IDH1:NM_005896:exon6:c.A538G:p.M180V	.	.	.	.	.	.	.	.	.	.	.	2464439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.359	0.0471725362425	7.7e-05	.	0.0002	0	0.0015	0	0	4.501e-05	0	0	0.0001358	21	154602	rs374474539	3.216e-05	3.215e-05	3.949e-05	2.476e-05	0.0005	2.478e-05	2.221e-05	0.0003	0.0003	2.988e-05	0.0005	0	0	0	0.0002	1.889e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	3.856e-05	0	0.0001	5.24e-06	2.45e-06	2.263e-05	9.08e-06	2.416e-05	0	0.0001	0	0	0	0	0	0	0	0.01	0.56456	D	0.009	0.66756	D	0.281	0.32101	B	0.108	0.31289	B	0.000000	0.84330	D	0.121445	0.999728	0.48557	D	3.33	0.90841	M	-0.19	0.65931	T	-2.63	0.56466	D	0.671	0.68516	-0.4867	0.69126	T	0.271	0.64235	T	10	0.2819928	0.45776	T	0.047173	0.62801	D	0.359	0.67962	.	.	0.781965175485	0.77995	0.718991644645176	0.71842	0.282354618092	0.30694	0.417705476284	0.27522	T	0.621399	0.88138	D	-0.16676	0.25727	T	-0.15535	0.58768	T	0.132652677659736	0.15625	T	0.970903	0.89563	D	0.6366611	0.74653	0.53745896	0.73270	0.6366611	0.74654	0.53745896	0.73271	-5.869	0.45170	T	0.3834943469973371	0.47759	0.240	0.47437	B	.;.;.	.;.;.	3.573721	0.50344	22.9	0.98874931262045029	0.47719	0.94270	0.60634	D	AEFBCI	0.662781	0.63253	D	0.193383685546328	0.50881	3.274017	0.278155143870122	0.54267	3.592145	0.991007068533874	0.32341	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	0.966000	0.28929	2.904000	0.35468	0.609000	0.47794	0.994000	0.38300	1.000000	0.68203	0.992000	0.67800	0.1367:0.0:0.1426:0.7207	7.822	0.28456	828	0.39726	Isopropylmalate dehydrogenase-like domain|Isopropylmalate dehydrogenase-like domain;Isopropylmalate dehydrogenase-like domain|Isopropylmalate dehydrogenase-like domain;Isopropylmalate dehydrogenase-like domain|Isopropylmalate dehydrogenase-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	830.43	33	chr2	208243587	.	T	C	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=372;ExcessHet=0;FS=4.13;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=0.194;SOR=1.371	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	0	1	0
chr2	209678637	209678637	C	A	exonic	MAP2	.	nonsynonymous SNV	MAP2:NM_001363911:exon5:c.C328A:p.Q110K,MAP2:NM_001363913:exon5:c.C328A:p.Q110K,MAP2:NM_001375494:exon5:c.C328A:p.Q110K,MAP2:NM_001375499:exon5:c.C328A:p.Q110K,MAP2:NM_001375502:exon5:c.C328A:p.Q110K,MAP2:NM_001375509:exon5:c.C328A:p.Q110K,MAP2:NM_001375510:exon5:c.C328A:p.Q110K,MAP2:NM_001375526:exon5:c.C328A:p.Q110K,MAP2:NM_001375527:exon5:c.C328A:p.Q110K,MAP2:NM_001375528:exon5:c.C328A:p.Q110K,MAP2:NM_001375529:exon5:c.C328A:p.Q110K,MAP2:NM_001375530:exon5:c.C328A:p.Q110K,MAP2:NM_001375531:exon5:c.C328A:p.Q110K,MAP2:NM_001375532:exon5:c.C328A:p.Q110K,MAP2:NM_001375533:exon5:c.C328A:p.Q110K,MAP2:NM_001375535:exon5:c.C328A:p.Q110K,MAP2:NM_001375536:exon5:c.C328A:p.Q110K,MAP2:NM_001375537:exon5:c.C328A:p.Q110K,MAP2:NM_001375538:exon5:c.C328A:p.Q110K,MAP2:NM_001375539:exon5:c.C328A:p.Q110K,MAP2:NM_001375540:exon5:c.C328A:p.Q110K,MAP2:NM_001375541:exon5:c.C328A:p.Q110K,MAP2:NM_001375542:exon5:c.C328A:p.Q110K,MAP2:NM_001375543:exon5:c.C328A:p.Q110K,MAP2:NM_001375544:exon5:c.C328A:p.Q110K,MAP2:NM_001375545:exon5:c.C328A:p.Q110K,MAP2:NM_001375546:exon5:c.C328A:p.Q110K,MAP2:NM_001375548:exon5:c.C328A:p.Q110K,MAP2:NM_002374:exon5:c.C328A:p.Q110K,MAP2:NM_031845:exon5:c.C328A:p.Q110K,MAP2:NM_031847:exon5:c.C328A:p.Q110K,MAP2:NM_001039538:exon6:c.C328A:p.Q110K,MAP2:NM_001363910:exon6:c.C328A:p.Q110K,MAP2:NM_001375474:exon6:c.C328A:p.Q110K,MAP2:NM_001375495:exon6:c.C328A:p.Q110K,MAP2:NM_001375496:exon6:c.C328A:p.Q110K,MAP2:NM_001375497:exon6:c.C328A:p.Q110K,MAP2:NM_001375498:exon6:c.C328A:p.Q110K,MAP2:NM_001375500:exon6:c.C328A:p.Q110K,MAP2:NM_001375501:exon6:c.C328A:p.Q110K,MAP2:NM_001375503:exon6:c.C328A:p.Q110K,MAP2:NM_001375504:exon6:c.C328A:p.Q110K,MAP2:NM_001375505:exon6:c.C328A:p.Q110K,MAP2:NM_001375506:exon6:c.C328A:p.Q110K,MAP2:NM_001375507:exon6:c.C328A:p.Q110K,MAP2:NM_001375508:exon6:c.C328A:p.Q110K,MAP2:NM_001375534:exon6:c.C328A:p.Q110K,MAP2:NM_001375583:exon6:c.C328A:p.Q110K,MAP2:NM_001375493:exon7:c.C328A:p.Q110K	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.015733869454	0.0004	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0.0002	0.0003363	52	154602	rs138065981	0.0005	0.0005	0.0005	0.0006	0.0059	0.0005	0.0005	0.0044	0.0038	0.0001	0.0003	0.0003	0	0	0.0059	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	7.223e-05	0	0.0005	0.0006	0	0	0	0.0006	0.0009	0.0002	0.001	0.91255	D	0.923	0.92824	T	0.997	0.70673	D	0.977	0.78936	D	0.000088	0.51296	D	0.000000	0.999917	0.51042	D	2.175	0.60977	M	2.03	0.20959	T	-0.57	0.67241	N	0.456	0.54757	-1.1130	0.02824	T	0.074	0.30023	T	10	0.055562258	0.06092	T	0.015734	0.36624	T	0.196	0.47777	.	.	0.268702046668	0.26493	0.39222613536877304	0.39137	0.411919561254	0.41941	0.77146166563	0.77643	T	0.434603	0.78163	T	-0.257727	0.13167	T	-0.250499	0.49767	T	0.0715834465914999	0.08871	T	0.978627	0.92475	D	0.36543626	0.58246	0.2970841	0.55741	0.36543626	0.58246	0.2970841	0.55741	-3.15	0.11879	T	.	.	0.222	0.51891	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.475762	0.69783	25.4	0.99587142264947204	0.73395	0.98265	0.81073	D	AEFGI	0.752294	0.69284	D	0.358737731209353	0.59202	4.097746	0.427853965149935	0.63305	4.56179	0.999999861544069	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	6.494000	0.73569	5.898000	0.50850	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.412	0.90499	830	0.39242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	532.43	35	chr2	209678637	.	C	A	532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.394;DP=359;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.381;SOR=0.963	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1092	9	0	1	0
chr2	209694038	209694038	G	T	exonic	MAP2	.	nonsynonymous SNV	MAP2:NM_001375551:exon4:c.G1394T:p.G465V,MAP2:NM_001375555:exon4:c.G1394T:p.G465V,MAP2:NM_001375556:exon4:c.G1394T:p.G465V,MAP2:NM_001375557:exon4:c.G1394T:p.G465V,MAP2:NM_001375558:exon4:c.G1394T:p.G465V,MAP2:NM_001375559:exon4:c.G1394T:p.G465V,MAP2:NM_001375552:exon5:c.G1394T:p.G465V,MAP2:NM_001363911:exon7:c.G1856T:p.G619V,MAP2:NM_001375502:exon7:c.G1865T:p.G622V,MAP2:NM_001375526:exon7:c.G1868T:p.G623V,MAP2:NM_001375527:exon7:c.G1868T:p.G623V,MAP2:NM_001375528:exon7:c.G1856T:p.G619V,MAP2:NM_001375543:exon7:c.G1868T:p.G623V,MAP2:NM_001375544:exon7:c.G1865T:p.G622V,MAP2:NM_001375545:exon7:c.G1856T:p.G619V,MAP2:NM_001375546:exon7:c.G1856T:p.G619V,MAP2:NM_001375548:exon7:c.G1853T:p.G618V,MAP2:NM_002374:exon7:c.G1868T:p.G623V,MAP2:NM_001363910:exon8:c.G1856T:p.G619V,MAP2:NM_001375500:exon8:c.G1856T:p.G619V,MAP2:NM_001375504:exon8:c.G1868T:p.G623V,MAP2:NM_001375505:exon8:c.G1868T:p.G623V,MAP2:NM_001375506:exon8:c.G1868T:p.G623V,MAP2:NM_001375507:exon8:c.G1856T:p.G619V,MAP2:NM_001375531:exon8:c.G2114T:p.G705V,MAP2:NM_001375534:exon8:c.G1868T:p.G623V,MAP2:NM_001375537:exon8:c.G2114T:p.G705V,MAP2:NM_001375539:exon8:c.G2102T:p.G701V,MAP2:NM_001375501:exon9:c.G2114T:p.G705V,MAP2:NM_001375503:exon9:c.G2099T:p.G700V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00486023482623	.	.	2.487e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs763698477	2.532e-05	2.531e-05	1.089e-05	3.989e-05	0.0004	1.868e-05	1.631e-05	0.0003	0.0003	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	0.0004	6.574e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.01	0.56456	D	0.02	0.59732	D	0.096	0.25489	B	0.129	0.32841	B	0.126312	0.18809	N	0.492746	0.99998	0.18612	N	1.61	0.41143	L	2.23	0.18083	T	-0.37	0.13226	N	0.204	0.26475	-1.0174	0.24560	T	0.028	0.12014	T	10	0.055646032	0.06116	T	0.00486	0.12192	T	0.015	0.02232	0.284	0.24121	0.082315109003	0.07666	0.1022696923245184	0.10156	0.290609201373	0.31466	0.218146279454	0.01205	T	0.171658	0.51986	T	-0.472467	0.00820	T	-0.600286	0.12788	T	0.035590214267082	0.02910	T	0.751925	0.37414	T	0.08294113	0.19129	0.072399646	0.15614	0.08294113	0.19129	0.072399646	0.15613	-2.794	0.08128	T	.	.	0.099	0.16800	B	.;.	.;.	0.574782	0.09432	6.212	0.807568230494216	0.13354	0.09042	0.14875	N	AEFBI	0.146872	0.27043	N	-1.12616942235507	0.06181	0.2838463	-1.17844492744521	0.06272	0.3013344	0.0245173068141558	0.13584	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.55	-1.8	0.07480	0.079000	0.14636	-0.787000	0.07430	-0.185000	0.09859	0.012000	0.18695	0.000000	0.08366	0.579000	0.30870	0.5552:0.1158:0.329:0.0	8.123	0.30144	824	0.40336	MAP2/Tau projection;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2079.43	33	chr2	209694038	.	G	T	2079.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.943;DP=643;ExcessHet=0;FS=11.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.19;SOR=0.903	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr2	209957718	209957718	C	T	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_032504:exon48:c.C7334T:p.S2445L,UNC80:NM_182587:exon48:c.C7319T:p.S2440L,UNC80:NM_001371986:exon49:c.C7532T:p.S2511L	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	1431052	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.278	0.00442522454573	.	.	0.0001	0	0	0	0	0	0.0041	0.0003	2.59e-05	4	154602	rs368581465	4.503e-05	4.309e-05	2.962e-05	6.086e-05	0.0005	3.597e-05	3.269e-05	0.0003	0.0003	0	0	0	0	6.088e-05	0	1.761e-05	6.898e-05	0.0005	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.0	0.92824	D	0.997	0.70673	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.895	0.50365	L	1.5	0.31205	T	-3.75	0.71157	D	0.449	0.52119	-0.8917	0.48784	T	0.161	0.49531	T	10	0.27059165	0.44591	T	0.004425	0.10812	T	0.278	0.59497	0.209	0.12639	0.363751660372	0.35992	0.6809871011402334	0.68037	0.875910447209	0.69566	0.737038850784	0.72536	T	0.214197	0.57572	T	-0.0964445	0.37013	T	-0.0601563	0.66320	T	0.682844519615173	0.39918	D	0.963304	0.86445	D	0.43549535	0.63111	0.31119147	0.57126	0.43549535	0.63112	0.31119147	0.57126	-3.284	0.15043	T	0.12967967861646146	0.13569	0.134	0.29060	B	.;.	.;.	5.354183	0.89805	31	0.99899580190463966	0.97199	0.98538	0.83854	D	AEFBI	0.912909	0.87417	D	0.72312373331895	0.81147	7.454901	0.709840298947083	0.83128	7.940626	0.999999584529514	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.84	4.84	0.62125	7.445000	0.79656	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.093	0.89407	748	0.52143	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1100.43	35	chr2	209957718	.	C	T	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.004;DP=439;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.505;SOR=0.841	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr2	210203379	210203379	-	TTAAACATAACA	exonic	ACADL	.	nonframeshift insertion	ACADL:NM_001608:exon8:c.935_936insTGTTATGTTTAA:p.N312_Y313insVMFN	.	22	1494	5	1	0	7	0.00233723	.	.	.	3894916	Long_chain_acyl-CoA_dehydrogenase_deficiency	MONDO:MONDO:0020531,MedGen:C0220711	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.0006	0.0007	0	0.0039	0.0024	0.0023	0.0022	0.0003458	9	26028	rs779456934	0.0067	0.0074	0.0069	0.0064	0.0075	0.0066	0.0065	0.0074	0.0073	0.0008	0.0024	0.0020	2.523e-05	0.0104	0.0010	0.0075	0.0059	0.0038	0.0051	0.0051	0.0051	0.0051	0.0074	0.0048	0.0047	0.0069	0.0067	0.0013	0	0.0049	0.0020	0	0.0111	0	0.0074	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	701.39	36	chr2	210203379	.	G	GTTAAACATAACA	701.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=373;ExcessHet=0;FS=1.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.686;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1077:.	9	0	1	0
chr2	210203383	210203383	C	A	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon8:c.G932T:p.R311M	.	21	1495	5	1	0	7	0.00233567	.	.	.	433337	Long_chain_acyl-CoA_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0020531,MedGen:C0220711|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.738	0.228756806949	0.0005	.	0.0020	0.0006	0.0007	0	0.0041	0.0024	0.0023	0.0021	0.0015782	244	154602	rs377085604	0.0070	0.0074	0.0072	0.0067	0.0078	0.0068	0.0068	0.0077	0.0076	0.0007	0.0024	0.0021	0	0.0103	0.0010	0.0078	0.0062	0.0038	0.0051	0.0051	0.0051	0.0051	0.0075	0.0048	0.0047	0.0069	0.0067	0.0013	0	0.0049	0.0020	0	0.0111	0	0.0075	0.0028	0.0027	0.061	0.37118	T	0.121	0.35840	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.58	0.39772	L	-3.87	0.95922	D	-1.37	0.33998	N	0.802	0.79792	0.966	0.96631	D	0.895	0.96529	D	10	0.0887534	0.15311	T	0.228757	0.88153	D	0.738	0.90895	.	.	0.987845976444	0.98771	0.8277364911453763	0.82731	0.894564984557	0.70389	0.518029212952	0.41348	T	0.636253	0.88789	D	0.03605	0.56526	T	0.28148	0.87204	D	0.0219350821162778	0.00901	T	0.930707	0.74322	D	0.51036674	0.67700	0.4749106	0.69570	0.51036674	0.67701	0.4749106	0.69570	-4.36	0.29010	T	.	.	0.383	0.58593	A	.	.	4.917321	0.80965	27.4	0.93463359317222294	0.23252	0.93580	0.58606	D	ALL	0.900185	0.84541	D	0.636925684181711	0.75524	6.321442	0.643941750098315	0.78160	6.820752	0.999999999742513	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.43	5.43	0.79006	5.599000	0.67280	4.864000	0.45499	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.244	0.93880	708	0.56926	Acyl-CoA dehydrogenase/oxidase C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	36	chr2	210203383	.	C	A	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=371;ExcessHet=0;FS=3.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.16;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1077:.	9	0	1	0
chr2	210203386	210203387	GT	-	exonic	ACADL	.	frameshift deletion	ACADL:NM_001608:exon8:c.928_929del:p.T310Qfs*5	.	18	1498	5	1	0	7	0.002331	.	.	.	799282	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0019	0.00179712	0.0020	0.0006	0.0007	0	0.0041	0.0024	0.0023	0.0022	0.0006916	18	26028	rs549315531	0.0070	0.0074	0.0072	0.0067	0.0078	0.0068	0.0068	0.0077	0.0076	0.0008	0.0025	0.0021	0	0.0104	0.0010	0.0078	0.0062	0.0038	0.0051	0.0051	0.0051	0.0051	0.0075	0.0048	0.0047	0.0069	0.0067	0.0013	0	0.0049	0.0020	0	0.0111	0	0.0075	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	620.39	36	chr2	210203385	.	GGT	G	620.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=372;ExcessHet=0;FS=3.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.942;SOR=1.151	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1077:.	9	0	1	0
chr2	210656609	210656609	A	G	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon30:c.A3643G:p.I1215V,CPS1:NM_001122633:exon31:c.A3643G:p.I1215V,CPS1:NM_001369256:exon31:c.A3676G:p.I1226V,CPS1:NM_001369257:exon32:c.A3643G:p.I1215V	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	237339	Congenital_hyperammonemia,_type_I|Pulmonary_hypertension,_neonatal,_susceptibility_to|not_provided|not_specified	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|MONDO:MONDO:0014151,MedGen:C3714958,OMIM:615371|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.696	0.026614360004	0.0010	0.000199681	0.0015	0.0002	0.0027	0	0	0.0021	0.0022	0.0004	0.0014359	222	154602	rs141373204	0.0011	0.0011	0.0011	0.0012	0.0111	0.0011	0.0010	0.0089	0.0081	0.0002	0.0017	0.0147	2.519e-05	0	0.0111	0.0008	0.0029	0.0006	0.0013	0.0012	0.0014	0.0011	0.0024	0.0011	0.0011	0.0017	0.0015	0.0001	0	0.0024	0.0171	0	0	0.0315	0.0009	0.0039	0.0017	0.012	0.54683	D	0.017	0.60972	D	0.619	0.39896	P	0.354	0.42942	B	0.000000	0.84330	N	0.046659	0.999316	0.46639	D	1.295	0.32453	L	-4.28	0.97126	D	-0.81	0.22294	N	0.281	0.31814	0.729	0.93531	D	0.844	0.94781	D	10	0.0088790655	0.00201	T	0.026614	0.49512	D	0.696	0.89007	.	.	0.852499549851	0.85108	0.7071783142122061	0.70659	0.202042824549	0.22620	0.478276997805	0.35819	T	0.671407	0.90251	D	-0.0158437	0.49444	T	0.191235	0.82640	D	0.0179974770087154	0.00524	T	0.779122	0.41282	T	0.57867557	0.71536	0.34298837	0.60017	0.63356006	0.74489	0.35052237	0.60660	-4.053	0.25157	T	0.1860674942653916	0.24202	0.112	0.26325	B	.;.;.	.;.;.	2.068265	0.26303	17.07	0.99799060945873042	0.88372	0.92144	0.55042	D	AEFBCI	0.943246	0.94884	D	0.284734331515722	0.55374	3.701525	0.375728509551874	0.60071	4.19087	0.720234988366096	0.22923	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.08	4.94	0.64645	5.815000	0.68892	2.068000	0.30429	0.665000	0.62972	1.000000	0.71638	0.774000	0.26724	0.996000	0.76049	0.9211:0.0:0.0789:0.0	10.605	0.44578	427	0.81056	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.020202	0.013587	0.017544	0.000000	0.017241	0.000000	0.003788	0.1	957.14	34	chr2	210656609	.	A	G	957.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.22;DP=437;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.113;SOR=0.632	GT:AD:DP:GQ:PL	0/1:28,18:46:99:369,0,684	8	0	2	0
chr2	211712109	211712109	T	A	exonic	ERBB4	.	nonsynonymous SNV	ERBB4:NM_001042599:exon9:c.A1065T:p.K355N,ERBB4:NM_005235:exon9:c.A1065T:p.K355N	Amyotrophic lateral sclerosis 19, Autosomal dominant	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0189250997405	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs748858562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.13088	T	0.55	0.10138	T	0.999	0.77913	D	0.911	0.69585	D	0.000000	0.84330	D	0.000000	0.999945	0.51968	D	0.97	0.24054	L	0.97	0.42502	T	-1.3	0.33197	N	0.546	0.57263	-0.7055	0.60174	T	0.231	0.59719	T	10	0.29511184	0.47081	T	0.018925	0.41149	T	0.173	0.43840	0.476	0.55342	0.74125211765	0.73892	0.8225085520189672	0.82207	0.37558572423	0.39016	0.764939844608	0.76666	T	0.256188	0.78457	T	-0.189028	0.22402	T	-0.509302	0.21388	T	0.78750079870224	0.45526	D	0.726827	0.34112	T	0.46500126	0.64982	0.34961268	0.60583	0.46500126	0.64983	0.34961268	0.60583	-6.621	0.52261	T	0.13091471088821854	0.13816	0.259	0.52219	B	.;.;.	.;.;.	3.236524	0.44165	21.9	0.99307284445152644	0.58869	0.79292	0.39264	D	AEFI	0.310698	0.41664	N	-0.339481463868141	0.27660	1.519389	-0.397596538680113	0.25068	1.376429	6.46920480525073E-4	0.07527	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	-5.26	0.02559	0.201000	0.17074	.	.	0.609000	0.47794	0.978000	0.35038	0.322000	0.24328	0.999000	0.91618	0.0:0.56:0.0:0.44	15.519	0.75589	832	0.38914	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1149.43	35	chr2	211712109	.	T	A	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.115;DP=405;ExcessHet=0;FS=2.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-1.297;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	9	0	1	0
chr2	214934127	214934127	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon44:c.C6677T:p.T2226I,ABCA12:NM_173076:exon52:c.C7631T:p.T2544I	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	1	1516	4	1	0	6	0.00197498	.	.	.	719581	Autosomal_recessive_congenital_ichthyosis_4B|ABCA12-related_disorder|not_provided|Inborn_genetic_diseases|Congenital_ichthyosis_of_skin	MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:C0020758	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.352	0.0377526259987	0.0020	0.00119808	0.0014	0.0003	0.0013	0	0.0002	0.0021	0	0.0007	0.0015006	232	154602	rs146834697	0.0024	0.0024	0.0024	0.0023	0.0056	0.0023	0.0023	0.0040	0.0035	0.0004	0.0019	0.0003	0	0.0001	0.0056	0.0028	0.0024	0.0005	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0022	0.0003	0	9.423e-05	0.0034	0.0024	0.0014	0.0004	0.039	0.43393	D	0.035	0.52389	D	0.228	0.37483	B	0.14	0.46509	B	0.136249	0.18453	N	0.555420	0.63487	0.30667	N	1.425	0.35738	L	-1.72	0.83241	D	-3.12	0.63782	D	0.242	0.27316	-0.0097	0.82056	T	0.542	0.83146	D	10	0.015284419	0.00321	T	0.037753	0.57812	D	0.352	0.67326	.	.	0.701912758934	0.69933	0.3462876169233124	0.34542	0.197728138392	0.22142	0.46284943819	0.33701	T	0.483917	0.81145	T	-0.285099	0.10135	T	-0.185352	0.56023	T	0.0475143686642646	0.05056	T	0.592041	0.21827	T	0.11353767	0.26813	0.14413582	0.34231	0.10964388	0.25920	0.14422622	0.34248	-5.057	0.37452	T	0.3099596069436688	0.40780	0.088	0.17317	B	.;.	.;.	2.750442	0.36054	20.1	0.99847061573211404	0.92663	0.33027	0.24728	N	AEFDIJ	0.139222	0.26075	N	0.0506207718956736	0.44171	2.696058	0.124801669836326	0.45821	2.838526	0.0122582802688855	0.12301	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	0.920000	0.28325	8.686000	0.78060	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8505:0.1495	14.268	0.65682	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.002717	0.017544	0.000000	0.000000	0.000000	0.011364	0.05	1036.43	33	chr2	214934127	.	G	A	1036.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.541;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.317;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	9	0	1	0
chr2	215346801	215346801	A	G	exonic	ATIC	.	nonsynonymous SNV	ATIC:NM_004044:exon14:c.A1363G:p.T455A	AICA-ribosiduria due to ATIC deficiency, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	4079666	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.408	0.0993202629966	.	0.000199681	1.647e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs564455369	6.84e-06	6.84e-06	0	1.375e-05	0.0002	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	0	6.623e-05	5.797e-05	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.515	0.11227	T	0.847	0.46818	P	0.717	0.54739	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-0.95	0.75438	T	-4.51	0.78222	D	0.742	0.74189	0.058	0.83384	D	0.504	0.81295	D	10	0.70511365	0.72688	D	0.09932	0.77088	D	0.730	0.90545	0.617	0.75116	0.862731788419	0.86139	0.8246619562200637	0.82424	0.278678198242	0.30350	0.668923854828	0.62684	T	0.52073	0.83234	D	0.0846159	0.62577	D	0.0864224	0.76006	D	0.722550594435052	0.41828	D	0.962254	0.85785	D	0.8616102	0.88209	0.7676829	0.86279	0.8616102	0.88210	0.7676829	0.86280	-9.795	0.72675	D	0.33568017259933025	0.43360	0.537	0.75325	A	.;.	.;.	4.689135	0.75117	26.3	0.99875866783432909	0.95328	0.99513	0.96930	D	AEFBI	0.943098	0.94849	D	0.727493369856491	0.81434	7.521382	0.746899310568886	0.85926	8.728312	0.99999993384004	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	9.171000	0.93946	11.149000	0.87296	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	16.560	0.84401	762	0.50290	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	972.43	34	chr2	215346801	.	A	G	972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.539;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=-0.74;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	9	0	1	0
chr2	216122121	216122121	G	A	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon6:c.G551A:p.R184H	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00403088899827	7.7e-05	.	0.0001	0	0.0002	0	0	0.0002	0	6.066e-05	0.0001294	20	154602	rs61752200	9.851e-05	9.85e-05	8.168e-05	0.0001	0.0038	8.511e-05	7.981e-05	0.0026	0.0022	2.987e-05	4.472e-05	3.826e-05	0	0	0.0038	8.903e-05	0.0001	0.0001	0.0001	0.0001	8.994e-05	0.0002	0.0008	8.66e-05	7.252e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0.0034	0.0001	0.0005	0.0008	0.179	0.22053	T	0.303	0.20164	T	0.001	0.07471	B	0.002	0.06944	B	0.001745	0.00822	N	2.651550	1	0.08975	N	0.06	0.08197	N	1.48	0.31731	T	0.36	0.03700	N	0.116	0.10483	-1.0663	0.10246	T	0.048	0.20355	T	10	0.03489968	0.01716	T	0.004031	0.09587	T	0.020	0.03691	.	.	0.257342827899	0.25358	0.20059215172771536	0.19976	0.971778868319	0.73390	0.260984778404	0.05008	T	0.111173	0.42646	T	-0.490415	0.00646	T	-0.705555	0.05527	T	0.0205425225578992	0.00754	T	0.369963	0.08710	T	0.03827622	0.05070	0.038111523	0.03610	0.03827622	0.05070	0.038111523	0.03609	-4.249	0.27455	T	.	.	0.065	0.01909	B	.;.	.;.	-0.453521	0.02021	0.181	0.78634872101477438	0.12386	0.06657	0.12675	N	AEFBCI	0.115376	0.22687	N	-1.75245388934732	0.00672	0.02900261	-1.90625382178999	0.00476	0.02107284	0.999999996246622	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	-10.2	0.00305	-2.533000	0.01017	-3.551000	0.02702	-0.892000	0.02379	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3868:0.3753:0.0881:0.1498	4.092	0.09446	875	0.30485	Ku70/Ku80, N-terminal alpha/beta|von Willebrand factor, type A;Ku70/Ku80, N-terminal alpha/beta|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.000000	0.05	727.43	36	chr2	216122121	.	G	A	727.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.468;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.601;SOR=0.733	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	9	0	1	0
chr2	216132386	216132386	A	G	exonic	XRCC5	.	nonsynonymous SNV	XRCC5:NM_021141:exon10:c.A1112G:p.E371G	.	.	.	.	.	.	.	.	0.9988	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0450355125081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235354373	2.053e-06	2.052e-06	4.084e-06	0	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.991	0.64070	D	0.796	0.58006	P	0.000002	0.62929	D	0.101706	1	0.81001	D	2.705	0.79137	M	1.48	0.31731	T	-4.37	0.77061	D	0.313	0.35301	-0.9439	0.41992	T	0.154	0.48430	T	10	0.57306546	0.65427	D	0.045036	0.61784	D	0.325	0.64725	0.702	0.83869	0.147330786459	0.14319	0.8487746657473858	0.84839	1.94977245804	0.93369	0.44680917263	0.31508	T	0.445637	0.78858	T	0.0889931	0.63076	D	-0.109944	0.62616	T	0.9771848320961	0.71724	D	0.911209	0.68535	D	0.35918102	0.57773	0.6848158	0.81469	0.35918102	0.57773	0.6848158	0.81470	-7.208	0.55539	T	.	.	0.190	0.40889	B	.;.	.;.	5.437717	0.90896	32	0.99900978113088856	0.97275	0.99572	0.97574	D	AEFBI	0.938402	0.93753	D	0.677750196976354	0.78175	6.818816	0.69590913279349	0.82065	7.676352	0.999999996331445	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.01	6.01	0.97420	7.028000	0.76204	7.942000	0.75525	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	1.0:0.0:0.0:0.0	15.705	0.77329	872	0.31118	Ku70/Ku80 beta-barrel domain|Ku70/Ku80 beta-barrel domain;Ku70/Ku80 beta-barrel domain|Ku70/Ku80 beta-barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1214.43	33	chr2	216132386	.	A	G	1214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.698;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.153;SOR=0.703	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1226,0,1250	9	0	1	0
chr2	216660575	216660575	C	T	exonic	IGFBP2	.	nonsynonymous SNV	IGFBP2:NM_000597:exon2:c.C461T:p.S154L,IGFBP2:NM_001313990:exon2:c.C29T:p.S10L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00630712612648	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348597652	6.864e-07	6.84e-07	1.365e-06	0	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.65419	T	0.154	0.74150	T	0.844	0.46645	P	0.313	0.41496	B	0.307563	0.03994	N	1.501450	0.762676	0.34057	D	1.995	0.54099	M	3.19	0.10101	T	-1.73	0.41046	N	0.14	0.23253	-1.0289	0.20811	T	0.044	0.18783	T	10	0.12660235	0.24070	T	0.006307	0.16580	T	0.137	0.36984	0.316	0.29258	0.27715347029	0.27323	0.7098709508097822	0.70929	0.859613321103	0.68898	0.482085138559	0.36344	T	0.392869	0.75242	T	-0.231091	0.16505	T	-0.469093	0.25613	T	0.403822946830037	0.29086	T	0.880112	0.61435	D	0.13487092	0.31320	0.089112476	0.20819	0.13487092	0.31319	0.089112476	0.20818	-3.043	0.10651	T	.	.	0.095	0.14933	B	.;.	.;.	2.541299	0.32871	19.17	0.99703214628364589	0.80798	0.84070	0.43155	D	AEFBI	0.875932	0.79964	D	0.0093951093071566	0.42280	2.544629	-0.0550547769495855	0.37272	2.180102	0.999970096340817	0.50053	0.719381	0.83141	0	0.659912	0.62753	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.56	4.56	0.55644	3.343000	0.51884	2.134000	0.30799	0.599000	0.40250	0.031000	0.20493	0.029000	0.21193	0.769000	0.36481	0.0:1.0:0.0:0.0	14.659	0.68458	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1042.43	33	chr2	216660575	.	C	T	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.678;DP=411;ExcessHet=0;FS=0.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.096;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	9	0	1	0
chr2	217809892	217809892	G	A	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon28:c.C4850T:p.T1617M,TNS1:NM_001308023:exon28:c.C4829T:p.T1610M,TNS1:NM_022648:exon30:c.C4892T:p.T1631M	.	420	1101	1	0	0	1	0.000453926	.	.	.	2364013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0352747906961	.	.	7.417e-05	9.614e-05	0.0003	0	0	5.997e-05	0	6.058e-05	5.82e-05	9	154602	rs758979599	5.2e-05	5.2e-05	4.902e-05	5.502e-05	0.0003	4.259e-05	3.889e-05	6.092e-05	3.953e-05	2.987e-05	0.0001	0	5.038e-05	3.745e-05	0.0003	4.498e-05	9.936e-05	8.117e-05	9.201e-05	9.193e-05	8.994e-05	9.418e-05	0.0002	5.529e-05	4.366e-05	5.842e-05	4.239e-05	4.827e-05	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.122	0.27663	T	0.066	0.53426	T	1.0	0.90584	D	0.955	0.69585	D	0.000145	0.49130	D	0.137270	0.683874	0.33260	D	1.39	0.34934	L	1.51	0.30937	T	-1.99	0.45949	N	0.523	0.56662	-1.0350	0.18857	T	0.109	0.39320	T	10	0.22896606	0.39814	T	0.035275	0.56238	D	0.137	0.36984	0.44	0.49484	0.266724437049	0.26276	0.25080430415334676	0.24994	0.586849640528	0.54273	0.568106532097	0.48410	T	0.068177	0.33390	T	-0.250291	0.14062	T	-0.3716	0.36702	T	0.330059379339218	0.26227	T	0.911709	0.71494	D	0.04405431	0.06974	0.07519513	0.16528	0.04405431	0.06973	0.07519513	0.16528	-4.125	0.25658	T	.	.	0.074	0.07365	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.264420	0.64833	24.8	0.99781381184217377	0.86780	0.96498	0.69439	D	AEFDBI	0.472845	0.51778	N	0.291477854118713	0.55716	3.735686	0.285883904583775	0.54715	3.635622	0.999998418780407	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.38	3.5	0.39181	6.708000	0.74483	7.613000	0.61989	0.636000	0.52005	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0826:0.0:0.9174:0.0	12.280	0.54076	940	0.13648	Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain;Tensin/EPS8 phosphotyrosine-binding domain|PTB/PI domain|Tensin, phosphotyrosine-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	797.43	38	chr2	217809892	.	G	A	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.36;SOR=0.58	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	9	0	1	0
chr2	217847726	217847726	T	G	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.A2416C:p.N806H,TNS1:NM_001308023:exon17:c.A2416C:p.N806H,TNS1:NM_022648:exon17:c.A2416C:p.N806H	.	398	1105	18	1	0	20	0.00896861	.	.	.	697315	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.104	0.0429944531494	0.0012	0.000599042	0.0018	0.0003	0.0012	0	0.0006	0.0020	0.0033	0.0038	0.0017141	265	154602	rs141901890	0.0022	0.0022	0.0021	0.0023	0.0070	0.0022	0.0021	0.0052	0.0047	0.0002	0.0010	0.0008	0	0.0010	0.0070	0.0023	0.0023	0.0042	0.0015	0.0015	0.0015	0.0015	0.0041	0.0013	0.0012	0.0027	0.0023	0.0003	0	0.0007	0.0014	0	0.0010	0	0.0024	0.0005	0.0041	0.217	0.19157	T	0.139	0.33780	T	0.162	0.28404	B	0.121	0.32300	B	0.986698	0.08058	N	0.994171	1	0.08975	N	1.1	0.28011	L	-2.76	0.90904	D	-0.33	0.14390	N	0.238	0.30687	-0.4985	0.68704	T	0.474	0.79784	T	10	0.0075338185	0.00171	T	0.042994	0.60755	D	0.104	0.29647	.	.	0.631036566339	0.62802	0.35266923823291957	0.35180	0.222514327128	0.24783	0.335076749325	0.15699	T	0.045347	0.27096	T	-0.437887	0.01331	T	-0.399437	0.33450	T	0.00503909717186177	0.00054	T	0.737426	0.35417	T	0.05296016	0.09952	0.05846371	0.10808	0.05296016	0.09952	0.05846371	0.10807	-2.723	0.07498	T	.	.	0.069	0.03093	B	.;.;.;.;.;.	.;.;.;.;.;.	2.406268	0.30922	18.58	0.8255103183594763	0.14251	0.75342	0.36884	D	AEFDBCI	0.334560	0.43328	N	-0.71279601441514	0.15661	0.791244	-0.666106537991906	0.17811	0.9486976	0.99997784324916	0.50053	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	4.11	2.9	0.32809	1.378000	0.33935	3.369000	0.37918	0.665000	0.62972	0.859000	0.30595	0.997000	0.33255	0.580000	0.30894	0.0:0.2965:0.0:0.7035	6.640	0.22096	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.007576	0.05	686.43	33	chr2	217847726	.	T	G	686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.45;DP=470;ExcessHet=0;FS=3.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.917;SOR=1.067	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	9	0	1	0
chr2	217848829	217848829	C	T	exonic	TNS1	.	nonsynonymous SNV	TNS1:NM_001308022:exon16:c.G1313A:p.R438Q,TNS1:NM_001308023:exon17:c.G1313A:p.R438Q,TNS1:NM_022648:exon17:c.G1313A:p.R438Q	.	429	1090	3	0	0	3	0.00137426	.	.	.	3192611	TNS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.120	.	.	0.00599042	0.0024	0	8.64e-05	0	0	1.5e-05	0	0.0177	0.0021539	333	154602	rs201977904	0.0010	0.0010	0.0006	0.0015	0.0163	0.0010	0.0010	0.0156	0.0153	0	2.236e-05	0	0.0005	0	0.0002	1.259e-05	0.0013	0.0163	0.0006	0.0006	0.0003	0.0009	0.0189	0.0005	0.0005	0.0158	0.0146	0	0	6.539e-05	0	0	0	0	0	0	0.0189	0.294	0.14793	T	0.472	0.16328	T	0.054	0.22658	B	0.012	0.16012	B	0.160188	0.17688	N	0.578096	0.999997	0.08975	N	0.55	0.14455	N	-2.76	0.93640	D	-0.91	0.24460	N	0.081	0.05799	-0.5491	0.66821	T	0.515	0.81830	D	10	0.002497375	0.00038	T	.	.	.	0.120	0.33359	0.196	0.10839	0.414451016677	0.41062	0.14559773216401092	0.14482	0.142267948534	0.16037	0.2768201828	0.07052	T	0.055341	0.29980	T	-0.423682	0.01621	T	-0.367086	0.37230	T	0.00631007743640769	0.00070	T	0.889011	0.61998	D	0.04587938	0.07584	0.040917877	0.04533	0.04587938	0.07584	0.040917877	0.04532	-2.115	0.03649	T	.	.	0.058	0.00806	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.737823	0.22111	15.49	0.9624506724817169	0.29163	0.06874	0.12899	N	AEFDBHCI	0.131798	0.25087	N	-1.14834566497881	0.05806	0.2656928	-1.08063500641469	0.08081	0.395836	0.99999436184851	0.74766	0.489673	0.17934	0	0.610034	0.51514	0	0.566861	0.19136	0	0.662433	0.64102	0	.	.	4.79	1.21	0.20240	-0.142000	0.10293	0.782000	0.21490	-0.313000	0.06017	0.000000	0.06391	0.308000	0.24257	0.975000	0.56047	0.0:0.5047:0.0:0.4953	8.807	0.34106	954	0.10045	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1494.43	33	chr2	217848829	.	C	T	1494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.342;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	9	0	1	0
chr2	218072830	218072830	C	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon6:c.C331A:p.R111S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0143507460869	.	0.00139776	0.0004	0.0029	0.0034	0	0	0	0	0	0.0001617	25	154602	rs139730449	0.0001	0.0001	0.0002	0.0001	0.0032	0.0001	0.0001	0.0027	0.0025	0.0032	0.0003	0	0	0	0.0012	3.431e-05	0.0006	2.53e-05	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	0.0003	0	0	0	0	8.819e-05	0.0024	0	0.019	0.61437	D	0.031	0.57587	D	.	.	.	.	.	.	0.635928	0.10643	N	0.768768	1	0.81001	D	1.1	0.28011	L	1.62	0.28189	T	-1.73	0.41239	N	0.391	0.47949	-1.0259	0.21788	T	0.075	0.30086	T	8	0.011500865	0.00251	T	0.014351	0.34408	T	0.134	0.36365	0.577	0.70217	0.527958119908	0.52444	0.26982269490165733	0.26895	0.051584769685	0.05677	0.282365530729	0.07825	T	0.023188	0.23072	T	-0.445911	0.01194	T	-0.416348	0.31495	T	0.0338290306445298	0.02609	T	0.636336	0.25008	T	0.2544487	0.48473	0.22803141	0.47832	0.2544487	0.48473	0.22803141	0.47831	-8.574	0.64917	D	.	.	0.312	0.53936	B	.;.	.;.	2.747361	0.36003	20.1	0.9786890060290212	0.36520	0.81991	0.41290	D	AEFDBHCI	0.756317	0.69562	D	-0.120842671469494	0.36484	2.109609	-0.140111393588641	0.33790	1.936693	0.999999844529767	0.74766	0.65861	0.49226	0	0.61073	0.52368	0	0.725225	0.93170	0	0.542086	0.14980	0	.	.	4.08	4.08	0.46880	3.670000	0.54305	2.480000	0.32936	0.545000	0.25583	0.990000	0.36992	0.868000	0.27561	0.194000	0.21720	0.0:1.0:0.0:0.0	14.607	0.68081	894	0.26265	RUN domain|RUN domain|RUN domain;RUN domain|RUN domain|RUN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001182	0.000000	0.018519	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1152.43	35	chr2	218072830	.	C	A	1152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=443;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.322;SOR=0.496	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	9	0	1	0
chr2	218083120	218083120	G	A	exonic	RUFY4	.	nonsynonymous SNV	RUFY4:NM_198483:exon11:c.G1366A:p.E456K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0186849884476	0.0012	0.000399361	0.0006	0.0001	8.693e-05	0	0	0.0010	0.0011	0	0.0005433	84	154602	rs200129236	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0007	0.0001	0.0149	2.519e-05	0	0.0015	0.0001	0.0017	2.32e-05	0.0006	0.0006	0.0005	0.0006	0.0004	0.0005	0.0004	0.0002	0.0002	0.0002	0	0	0.0159	0	0	0	0.0004	0.0009	0	0.004	0.65419	D	0.025	0.56640	D	0.888	0.48822	P	0.287	0.40572	B	0.028882	0.25534	N	0.277746	0.999881	0.31661	N	1.845	0.48678	L	0.36	0.57880	T	-1.66	0.50175	N	0.489	0.52297	-1.0068	0.27912	T	0.068	0.27913	T	10	0.0051163733	0.00111	T	0.018685	0.40835	T	0.045	0.12272	.	.	0.552980905328	0.54955	0.20619499349635356	0.20536	0.0534819132666	0.05892	0.432508707047	0.29552	T	0.055442	0.30008	T	-0.290384	0.09598	T	-0.338737	0.40487	T	0.0154080583417271	0.00345	T	0.827217	0.49813	T	0.1329763	0.30946	0.14783856	0.34969	0.1329763	0.30946	0.14783856	0.34969	-6.404	0.49540	T	.	.	0.134	0.28976	B	.;.	.;.	3.981834	0.58545	24.0	0.99352112623511657	0.60615	0.68777	0.33931	D	AEFDBI	0.099755	0.20073	N	-0.0543728196602777	0.39407	2.323422	0.0141178274503136	0.40368	2.408114	0.999903451704761	0.45458	0.553676	0.25195	0	0.378119	0.05977	1	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.83	2.89	0.32713	1.620000	0.36586	6.511000	0.55808	0.657000	0.54293	0.965000	0.33920	1.000000	0.68203	0.898000	0.43474	0.0:0.2674:0.7326:0.0	8.391	0.31691	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004582	0.000000	0.012295	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1906.43	34	chr2	218083120	.	G	A	1906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.656;DP=427;ExcessHet=0;FS=6.454;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=3.06;SOR=0.98	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1080	9	0	1	0
chr2	218164782	218164782	G	A	exonic	CXCR1	.	nonsynonymous SNV	CXCR1:NM_000634:exon2:c.C430T:p.R144C	.	394	1095	32	1	0	34	0.0152878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	0.0002	0.0071885	0.0033	9.61e-05	0.0003	0	0	0.0001	0.0055	0.0231	0.0029819	461	154602	rs111741549	0.0014	0.0014	0.0008	0.0020	0.0213	0.0014	0.0013	0.0205	0.0202	8.961e-05	0.0002	0	2.519e-05	0	0.0050	8.453e-05	0.0017	0.0213	0.0009	0.0009	0.0006	0.0012	0.0253	0.0008	0.0008	0.0216	0.0202	0.0002	0	0	0	0	0	0.0034	0.0001	0.0005	0.0253	0.0	0.91255	D	0.039	0.51112	D	0.571	0.38591	P	0.189	0.36295	B	0.000622	0.42799	D	0.195160	0.976278	0.39261	D	3.225	0.89467	M	0.95	0.43279	T	-4.32	0.76655	D	0.218	0.24385	-0.6961	0.60624	T	0.160	0.49413	T	10	0.005643517	0.00125	T	.	.	.	0.235	0.53788	.	.	0.733002149173	0.73062	0.38357733357133356	0.38272	0.116461663123	0.13138	0.333392649889	0.15446	T	0.412919	0.76693	T	-0.304049	0.08282	T	-0.191936	0.55407	T	0.13430649001899	0.15774	T	0.79842	0.44325	T	0.3759007	0.59018	0.39109933	0.63889	0.3759007	0.59018	0.39109933	0.63889	-10.154	0.74829	D	.	.	0.259	0.49402	B	.	.	3.625763	0.51336	23.1	0.99851729412726908	0.93102	0.39393	0.26203	N	AEFDGBI	0.299338	0.40842	N	0.188144503605216	0.50629	3.251149	0.175859659243105	0.48527	3.067516	0.996075153280669	0.34508	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	2.189000	0.42253	2.346000	0.32284	0.676000	0.76740	0.209000	0.24412	0.052000	0.21854	0.885000	0.42453	0.0:0.0:0.837:0.163	12.880	0.57400	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	4143.43	34	chr2	218164782	.	G	A	4143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=804;ExcessHet=0;FS=0.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.234;SOR=0.719	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	9	0	1	0
chr2	218217496	218217496	G	C	exonic	ARPC2	.	nonsynonymous SNV	ARPC2:NM_005731:exon1:c.G26C:p.R9P,ARPC2:NM_152862:exon2:c.G26C:p.R9P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.104189998129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.277	0.60337	T	0.998	0.73220	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.72	0.79541	M	.	.	.	-4.67	0.85247	D	0.866	0.86297	-0.1087	0.79898	T	0.459	0.78981	T	9	0.8234941	0.81540	D	0.10419	0.77863	D	0.513	0.79156	0.502	0.59460	0.703440646678	0.70086	0.9333937753216618	0.93318	2.37341502255	0.96965	0.81335234642	0.84006	D	0.315394	0.68700	T	0.398118	0.89803	D	0.334093	0.89675	D	0.998154938220978	0.93375	D	0.916908	0.72182	D	0.95587873	0.96863	0.92379576	0.96664	0.95587873	0.96863	0.92379576	0.96665	-3.952	0.23083	T	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.392167	0.90332	31	0.99638235360310656	0.76510	0.83946	0.43035	D	ALL	0.958715	0.97865	D	0.869358285525551	0.90180	10.28843	0.837871592239494	0.92288	11.34079	0.999999999999366	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.45	5.45	0.79688	6.355000	0.72985	9.595000	0.81054	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.235	0.86879	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	325.43	52	chr2	218217496	.	G	C	325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.16;DP=423;ExcessHet=0;FS=2.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.38;ReadPosRankSum=0.74;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	9	0	1	0
chr2	218367740	218367740	C	T	exonic	CATIP	.	nonsynonymous SNV	CATIP:NM_001320865:exon10:c.C973T:p.H325Y,CATIP:NM_198559:exon10:c.C940T:p.H314Y	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0262518304468	0.0006	0.000798722	0.0009	0.0004	0.0004	0	0	0.0014	0.0020	0	0.0005369	83	154602	rs150944493	0.0005	0.0005	0.0005	0.0005	0.0031	0.0004	0.0004	0.0020	0.0017	0.0006	0.0002	0.0147	0	0	0.0031	0.0001	0.0015	3.513e-05	0.0006	0.0006	0.0006	0.0007	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0	6.533e-05	0.0147	0	0	0.0034	0.0004	0.0014	0	0.223	0.18757	T	0.071	0.43531	T	0.461	0.36363	P	0.136	0.33270	B	0.000495	0.43931	D	0.230900	0.993053	0.41822	D	2.24	0.63355	M	.	.	.	-3.1	0.63554	D	0.492	0.52563	-0.7493	0.57972	T	0.181	0.52767	T	9	0.0077836215	0.00177	T	0.026252	0.49171	D	0.142	0.37995	.	.	0.607079148747	0.60392	0.8207463829069734	0.82031	0.434749923973	0.43605	.	.	.	0.314752	0.68641	T	-0.180417	0.23675	T	-0.168972	0.57538	T	0.442093282938004	0.30506	T	0.763824	0.39073	T	0.25898048	0.48949	0.36099914	0.61532	0.25898048	0.48949	0.36099914	0.61531	-8.469	0.64224	D	.	.	0.195	0.41602	B	.	.	3.554999	0.49998	22.9	0.85886972175312049	0.16175	0.96071	0.67401	D	AEFGBHCIJ	0.544703	0.55952	D	0.017719886886968	0.42660	2.574669	0.0581083538128608	0.42465	2.568987	0.99999999999978	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	4.9	4.9	0.63643	3.984000	0.56632	5.789000	0.49856	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.390000	0.26558	0.0:1.0:0.0:0.0	17.671	0.88120	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.017663	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	559.48	36	chr2	218367740	.	C	T	559.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0567;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.637;SOR=0.738	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,997	9	0	1	0
chr2	218434679	218434679	T	G	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon14:c.T1654G:p.S552A	Cholestasis, progressive canalicular (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00706494314073	.	.	8.348e-06	0	0	0	0	0	0	6.497e-05	6.5e-06	1	154602	rs765227403	7.526e-06	7.524e-06	1.361e-06	1.375e-05	0.0001	4.04e-06	2.95e-06	7.125e-05	5.483e-05	0	0	0	0	0	0	0	0	0.0001	6.57e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.343	0.15984	T	0.574	0.08685	T	0.0	0.02946	B	0.009	0.14300	B	0.164437	0.17562	N	0.551366	1	0.08975	N	1.18	0.29980	L	1.01	0.41058	T	-1.46	0.38924	N	0.277	0.31365	-1.0198	0.23780	T	0.081	0.32119	T	10	0.101123095	0.18456	T	0.007065	0.18704	T	0.071	0.20720	0.66	0.79791	0.57631073843	0.57299	0.3514572219477349	0.35059	0.154120143453	0.17397	0.394367665052	0.24283	T	0.09233	0.38981	T	-0.403686	0.02189	T	-0.557965	0.16568	T	0.0324376858770847	0.02377	T	0.69903	0.30897	T	0.07454556	0.16737	0.058545277	0.10836	0.07454556	0.16736	0.058545277	0.10835	-5.633	0.43093	T	.	.	0.087	0.16319	B	.;.;.	.;.;.	1.819136	0.23114	15.89	0.94656830996997188	0.25269	0.12525	0.17322	N	AEFDBCI	0.341943	0.43826	N	-0.579859424207156	0.19556	1.024494	-0.518827654325284	0.21642	1.171739	0.816657931011269	0.24450	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.32	3.11	0.34883	0.281000	0.18568	3.499000	0.38765	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	0.847000	0.40026	0.2262:0.0:0.2943:0.4795	4.817	0.12738	927	0.17636	Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1506.43	34	chr2	218434679	.	T	G	1506.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=456;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.077;SOR=0.844	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	9	0	1	0
chr2	218644562	218644562	A	C	exonic	ZNF142	.	nonsynonymous SNV	ZNF142:NM_001366291:exon7:c.T1954G:p.L652V,ZNF142:NM_001105537:exon8:c.T1954G:p.L652V,ZNF142:NM_001366290:exon8:c.T2554G:p.L852V,ZNF142:NM_001379662:exon8:c.T1954G:p.L652V,ZNF142:NM_001366287:exon9:c.T1465G:p.L489V,ZNF142:NM_001366288:exon9:c.T1465G:p.L489V,ZNF142:NM_001366289:exon9:c.T1465G:p.L489V,ZNF142:NM_001379659:exon9:c.T2554G:p.L852V,ZNF142:NM_001379660:exon9:c.T2554G:p.L852V,ZNF142:NM_001379661:exon9:c.T2554G:p.L852V	.	418	1083	20	1	0	22	0.0100548	.	.	.	1326413	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00442305680025	0.0015	0.00119808	0.0020	0	0.0019	0	0	0.0026	0.0067	0.0027	0.0018305	283	154602	rs143333715	0.0014	0.0014	0.0012	0.0016	0.0094	0.0014	0.0014	0.0074	0.0067	8.961e-05	0.0017	0.0180	2.519e-05	5.625e-05	0.0094	0.0009	0.0030	0.0029	0.0015	0.0015	0.0016	0.0014	0.0025	0.0013	0.0013	0.0014	0.0012	0.0002	0	0.0011	0.0208	0	0	0.0170	0.0016	0.0028	0.0025	0.388	0.10909	T	0.182	0.29249	T	0.003	0.11197	B	0.003	0.08700	B	0.217944	0.03433	N	1.520170	1	0.08975	N	2.24	0.63355	M	2.68	0.12371	T	-0.43	0.14390	N	0.03	0.00942	-0.9982	0.30423	T	0.021	0.08917	T	10	0.0034694374	0.00061	T	0.004423	0.10812	T	0.011	0.01250	.	.	0.170165803431	0.16609	0.12332654044926017	0.12258	0.282143982982	0.30676	0.263482987881	0.05312	T	0.006073	0.05507	T	-0.692563	0.00040	T	-0.770017	0.02768	T	0.00649898472731861	0.00073	T	0.564244	0.19889	T	0.032217294	0.03204	0.024453068	0.00465	0.032217294	0.03204	0.024453068	0.00465	-4.391	0.29435	T	.	.	0.079	0.07083	B	.;.	.;.	0.137727	0.05320	1.811	0.5116011999509128	0.04513	0.13994	0.18165	N	AEFDBCI	0.055968	0.10310	N	-1.56020170342882	0.01476	0.06441885	-1.62281560223325	0.01522	0.06894086	0.978243920260915	0.29902	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	5.33	-4.78	0.02975	-0.648000	0.05489	-0.548000	0.08544	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2572:0.3295:0.1994:0.2139	0.835	0.01065	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.000000	0.012228	0.008772	0.000000	0.008621	0.051829	0.015152	0.05	1015.43	79	chr2	218644562	.	A	C	1015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.052;DP=779;ExcessHet=0;FS=1.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-1.165;SOR=0.929	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	9	0	1	0
chr2	218873448	218873448	G	A	exonic	WNT6	.	nonsynonymous SNV	WNT6:NM_006522:exon4:c.G701A:p.R234H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.159742593454	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1051611538	4.329e-06	1.163e-05	2.849e-06	5.847e-06	1.263e-05	1.56e-06	1.02e-06	.	.	0	0	0	0	0	0	9.271e-07	6.912e-05	1.263e-05	6.569e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.88	0.62516	P	0.000000	0.84330	D	0.000000	0.999977	0.53665	D	3.215	0.89331	M	-1.11	0.77466	T	-3.35	0.66436	D	0.316	0.35620	0.412	0.89276	D	0.630	0.87037	D	10	0.67137605	0.70733	D	0.159743	0.83988	D	0.686	0.88538	0.735	0.86806	0.800195990328	0.79833	0.8638787363467423	0.86351	1.75436928323	0.91029	0.756990551949	0.75482	T	0.927668	0.98753	D	0.135	0.67836	D	-0.0440025	0.67430	D	0.979058444499969	0.72635	D	0.959204	0.84623	D	0.84410626	0.86903	0.81213796	0.89036	0.84410626	0.86904	0.81213796	0.89037	-8.501	0.64436	D	.	.	0.171	0.37633	B	.	.	4.658347	0.74329	26.1	0.99927543769462235	0.99163	0.94367	0.60939	D	AEFDBCI	0.788527	0.71798	D	0.599413533871733	0.73140	5.917426	0.482488323348933	0.66832	5.003445	0.999997893648767	0.74766	0.59774	0.34471	0	0.541168	0.11318	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.32	3.43	0.38372	5.843000	0.69141	11.783000	0.96163	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.1598:0.8402:0.0	13.325	0.59891	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	862.43	34	chr2	218873448	.	G	A	862.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.077;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.233;SOR=0.7	GT:AD:DP:GQ:PL	0/1:41,39:80:99:874,0,876	9	0	1	0
chr2	219006485	219006485	C	T	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_194302:exon30:c.G4699A:p.E1567K	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00503622355902	0.0004	0.00119808	0.0016	0	0.0005	0	0	0.0007	0.0011	0.0088	0.0014101	218	154602	rs149635127	0.0010	0.0010	0.0009	0.0012	0.0080	0.0010	0.0010	0.0075	0.0073	8.961e-05	0.0005	0.0031	0	0	0.0028	0.0006	0.0012	0.0080	0.0005	0.0005	0.0005	0.0006	0.0046	0.0004	0.0004	0.0031	0.0026	2.406e-05	0	0.0004	0.0043	0	0	0	0.0005	0.0009	0.0046	0.376	0.11334	T	0.002	0.79402	D	0.152	0.28062	B	0.058	0.26451	B	0.130895	0.18642	N	0.445778	0.737426	0.29769	N	.	.	.	3.53	0.04852	T	-0.68	0.19509	N	0.197	0.24260	-1.0335	0.19332	T	0.020	0.08220	T	10	0.0048318207	0.00103	T	0.005036	0.12722	T	0.032	0.07718	.	.	0.273070737957	0.26916	0.36986674017828475	0.36900	0.0804903107758	0.09062	0.286842107773	0.08464	T	0.012049	0.10654	T	-0.582721	0.00185	T	-0.603983	0.12478	T	0.020103478559073	0.00711	T	0.634537	0.24876	T	0.13680832	0.31702	0.14295444	0.33991	0.13680832	0.31702	0.14295444	0.33990	-2.262	0.04352	T	.	.	0.075	0.05317	B	.;.	.;.	1.646257	0.21009	15.01	0.99669575394439025	0.78523	0.44148	0.27255	N	AEFBI	0.129140	0.24720	N	-0.377654692256713	0.26266	1.432249	-0.328266726446925	0.27190	1.507017	0.965988178007688	0.28870	0.59774	0.34471	0	0.59043	0.45803	0	0.59043	0.30614	0	0.63947	0.58350	0	.	.	5.26	4.38	0.52019	2.297000	0.43254	3.062000	0.36164	0.596000	0.33519	0.119000	0.23158	0.431000	0.24855	0.341000	0.25455	0.1848:0.8152:0.0:0.0	11.062	0.47169	599	0.68140	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.000000	0.001359	0.014620	0.050000	0.000000	0.012195	0.011364	0.05	1490.43	35	chr2	219006485	.	C	T	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.57;DP=438;ExcessHet=0;FS=3.259;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=1.92;SOR=0.807	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	9	0	1	0
chr2	219019115	219019115	A	G	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_194302:exon21:c.T3538C:p.F1180L	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	7.7e-05	0.00379393	0.0019	9.686e-05	0	0	0	0.0004	0	0.0127	0.0016947	262	154602	rs200240886	0.0009	0.0009	0.0006	0.0012	0.0124	0.0009	0.0009	0.0118	0.0116	8.961e-05	0.0002	0	5.038e-05	0	0.0010	0.0002	0.0009	0.0124	0.0005	0.0005	0.0003	0.0007	0.0114	0.0004	0.0004	0.0090	0.0081	0.0001	0	0	0	0	0	0.0034	0.0001	0.0005	0.0114	1.0	0.00964	T	0.13	0.34716	T	0.0	0.02946	B	0.001	0.04355	B	0.636617	0.10637	N	0.780131	1	0.08975	N	.	.	.	3.85	0.03650	T	1.49	0.00747	N	0.087	0.06990	-0.9051	0.47435	T	0.004	0.01330	T	10	0.0023660064	0.00035	T	.	.	.	0.020	0.03691	0.324	0.30549	0.0482279557977	0.04254	0.21909707568502704	0.21825	0.0819108232892	0.09225	0.2797935009	0.07463	T	0.017183	0.14063	T	-0.696358	0.00038	T	-0.762658	0.03018	T	0.0028994434523209	0.00030	T	0.530647	0.17608	T	0.05237244	0.09758	0.039958626	0.04210	0.05237244	0.09758	0.039958626	0.04210	-2.964	0.09799	T	.	.	0.229	0.46203	B	.;.	.;.	0.449364	0.08196	4.931	0.7305165401260727	0.10189	0.01396	0.04737	N	AEFBI	0.041388	0.06286	N	-1.23443329214604	0.04509	0.2036408	-1.19720465692996	0.05957	0.2853073	0.0343703151130727	0.14151	0.487112	0.14033	0	0.59043	0.45803	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.68	-2.79	0.05494	-1.051000	0.03618	-0.437000	0.09184	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.986000	0.61781	0.0996:0.266:0.1561:0.4783	2.585	0.04536	599	0.68140	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1258.43	36	chr2	219019115	.	A	G	1258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.406;DP=422;ExcessHet=0;FS=0.731;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.22;SOR=0.829	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1270,0,1338	9	0	1	0
chr2	219176241	219176241	G	A	exonic	CNPPD1	.	nonsynonymous SNV	CNPPD1:NM_015680:exon2:c.C160T:p.L54F,CNPPD1:NM_001321389:exon3:c.C160T:p.L54F,CNPPD1:NM_001321390:exon3:c.C160T:p.L54F,CNPPD1:NM_001321391:exon3:c.C160T:p.L54F	.	425	1082	15	0	0	15	0.00688389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.00855376499618	0.0013	0.000798722	0.0021	0.0002	0.0019	0	0.0002	0.0024	0	0.0041	0.0019469	301	154602	rs145875060	0.0024	0.0024	0.0023	0.0024	0.0064	0.0023	0.0023	0.0048	0.0042	0.0003	0.0016	0.0012	2.519e-05	0.0001	0.0064	0.0025	0.0025	0.0046	0.0014	0.0014	0.0014	0.0014	0.0031	0.0012	0.0012	0.0019	0.0018	0.0003	0	0.0020	0.0003	0	9.418e-05	0	0.0022	0.0014	0.0031	0.012	0.54683	D	0.028	0.54934	D	0.996	0.68779	D	0.903	0.64103	P	0.000039	0.55875	D	0.069246	0.99999	0.58761	D	0.55	0.14455	N	2.02	0.38718	T	-2.67	0.58248	D	0.549	0.57518	-0.9042	0.47538	T	0.149	0.47522	T	10	0.009566277	0.00216	T	0.008554	0.22606	T	0.236	0.53931	.	.	0.544173085412	0.54071	0.6818977107941196	0.68128	0.348366032642	0.36710	0.644619524479	0.59221	T	0.047822	0.27835	T	-0.369626	0.03613	T	-0.303589	0.44343	T	0.0278126070352077	0.01661	T	0.828317	0.50011	T	0.33431113	0.55822	0.27204925	0.53111	0.33431113	0.55822	0.27204925	0.53110	-7.887	0.60298	D	.	.	0.428	0.66949	A	.;.;.;.	.;.;.;.	5.209321	0.87404	29.2	0.99385622953549668	0.62113	0.87211	0.46682	D	ALL	0.373760	0.45891	N	0.542597589080877	0.69632	5.384708	0.546065157079519	0.71123	5.60727	0.99999999996518	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	4.54	4.54	0.55220	4.360000	0.59229	9.674000	0.81227	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0841:0.0:0.9159:0.0	11.349	0.48816	489	0.76795	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.006793	0.002924	0.000000	0.008621	0.003049	0.011364	0.05	1868.43	33	chr2	219176241	.	G	A	1868.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.376;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.556;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	9	0	1	0
chr2	219178513	219178513	C	G	exonic	RETREG2	.	nonsynonymous SNV	RETREG2:NM_024293:exon1:c.C161G:p.T54R	.	387	1129	6	0	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	.	0.00119808	0.0044	0.0034	0	0	0	0	0	0.0108	0.0002264	35	154602	rs556058840	0.0002	0.0003	0.0002	0.0003	0.0041	0.0002	0.0002	0.0037	0.0036	4.129e-05	0	0	0	2.932e-05	0.0005	2.68e-05	0.0004	0.0041	0.0002	0.0002	0.0001	0.0002	0.0042	0.0001	9.243e-05	0.0028	0.0023	0	0	0	0	0.0002	0	0	2.942e-05	0.0005	0.0042	0.022	0.48642	D	0.085	0.41074	T	0.181	0.29111	B	0.022	0.19653	B	0.010796	0.29783	N	0.311804	0.811917	0.28990	N	.	.	.	1.52	0.30669	T	-0.51	0.15986	N	0.286	0.32370	-1.0649	0.10572	T	0.038	0.16505	T	10	0.0051938593	0.00113	T	.	.	.	0.063	0.18251	0.464	0.53404	0.117191471859	0.11215	0.3117791947927422	0.31090	0.208122492365	0.23283	0.945761620998	0.99645	D	0.005132	0.04570	T	-0.460042	0.00983	T	-0.432779	0.29619	T	0.0543628626999794	0.06250	T	0.530047	0.17581	T	0.07831767	0.17829	0.11772964	0.28420	0.07831767	0.17828	0.11772964	0.28420	-1.647	0.02094	T	.	.	0.115	0.23113	B	.	.	2.520039	0.32562	19.08	0.92797263799539431	0.22319	0.94190	0.60386	D	ALL	0.198985	0.32581	N	-0.378774148038991	0.26227	1.429756	-0.24696250717891	0.29875	1.677426	0.999999999280449	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	4.19	3.28	0.36691	1.932000	0.39773	1.542000	0.27234	-0.309000	0.06099	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.2081:0.6907:0.0:0.1012	5.818	0.17768	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002805	0.000000	0.002041	0.007752	0.000000	0.000000	0.000000	0.000000	0.05	375.43	33	chr2	219178513	.	C	G	375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-2.429;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1018	9	0	1	0
chr2	219556657	219556657	G	A	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173431:exon13:c.C4133T:p.T1378M,OBSL1:NM_015311:exon13:c.C4133T:p.T1378M	3-M syndrome 2	0	1515	7	0	0	7	0.00230491	.	.	.	883825	not_specified|not_provided|3M_syndrome_2|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013039,MedGen:C2752041,OMIM:612921,Orphanet:2616|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.321	0.0960648053622	0.0002	.	0.0002	0	8.691e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs200449388	0.0001	0.0001	0.0001	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	2.99e-05	8.949e-05	0	0	0	0.0007	0.0002	0.0002	1.16e-05	7.885e-05	7.879e-05	7.708e-05	8.071e-05	0.0002	4.497e-05	3.512e-05	0.0001	7.894e-05	0	0	0	0	0	0	0	0.0002	0	0	0.199	0.31383	T	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.974154	0.39081	D	2.075	0.57047	M	-0.37	0.68892	T	-3.75	0.71157	D	0.636	0.70878	0.132	0.84743	D	0.473	0.79774	T	9	0.7189617	0.73534	D	0.096065	0.76538	D	0.400	0.71401	.	.	0.785868056097	0.78388	0.5522484339786173	0.55150	0.685853033884	0.60304	0.460486531258	0.33377	T	0.184103	0.53665	T	-0.179842	0.23758	T	-0.20262	0.54398	T	0.247522307247161	0.22762	T	0.865313	0.57527	D	0.12888269	0.30117	0.17901738	0.40608	0.12888269	0.30117	0.17901738	0.40607	-6.671	0.51592	T	.	.	0.134	0.31100	B	.;.;.	.;.;.	4.016177	0.59280	24.1	0.99760876874920346	0.85011	0.77111	0.37879	D	AEFDBCI	0.434081	0.49528	N	0.405838217624961	0.61743	4.379576	0.285711085852846	0.54705	3.634642	0.999988284242379	0.51787	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.16	4.16	0.48138	2.489000	0.44944	5.674000	0.49268	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.923000	0.45890	0.0:0.167:0.833:0.0	12.596	0.55824	114	0.95383	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1673.43	53	chr2	219556657	.	G	A	1673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.694;DP=600;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=2.57;SOR=0.608	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,104,1568	9	0	1	0
chr2	219575105	219575105	G	A	exonic	INHA	.	nonsynonymous SNV	INHA:NM_002191:exon2:c.G680A:p.G227E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.120905418511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.181	0.29346	T	0.666	0.41077	P	0.186	0.36104	B	0.041686	0.23922	N	0.394385	0.969011	0.25774	N	2.34	0.67151	M	-1.88	0.84487	D	-0.55	0.16799	N	0.152	0.15609	-0.3880	0.72404	T	0.464	0.79246	T	9	0.1768947	0.32697	T	0.120905	0.80155	D	0.271	0.58633	0.249	0.18602	0.9138772253	0.91301	0.4913017464178028	0.49051	0.270469494998	0.29572	0.454921662807	0.32616	T	0.236796	0.60435	T	-0.0578479	0.43243	T	-0.320871	0.42479	T	0.347023874521255	0.26901	T	0.618638	0.23716	T	0.065061	0.13868	0.09559627	0.22678	0.065061	0.13867	0.09559627	0.22678	-4.345	0.28802	T	.	.	0.11	0.21201	B	.	.	2.152584	0.27418	17.46	0.98488532516641825	0.42061	0.19082	0.20520	N	AEFBI	0.119796	0.23366	N	-0.0864170146700916	0.37988	2.218151	-0.0921281576883749	0.35713	2.069544	0.999212996921055	0.38775	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.48	3.49	0.39065	0.350000	0.19818	6.493000	0.55764	0.676000	0.76740	0.003000	0.16062	1.000000	0.68203	0.997000	0.79791	0.1838:0.2811:0.5351:0.0	5.738	0.17347	120	0.95183	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3098.43	43	chr2	219575105	.	G	A	3098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=666;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-0.122;SOR=0.681	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1045	9	0	1	0
chr2	219609402	219609402	C	T	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon17:c.C1966T:p.R656W	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0103774389607	0.0003	0.00139776	0.0010	0	0.0008	0	0	0.0006	0	0.0042	0.0008667	134	154602	rs138178069	0.0006	0.0006	0.0005	0.0007	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0010	0.0013	2.519e-05	3.757e-05	0.0078	0.0003	0.0011	0.0036	0.0006	0.0006	0.0005	0.0007	0.0035	0.0005	0.0004	0.0022	0.0018	0.0001	0	0.0012	0.0003	0	0	0.0068	0.0007	0.0005	0.0035	0.01	0.56456	D	0.001	0.83351	D	.	.	.	.	.	.	0.368670	0.04349	N	1.472120	1	0.08975	N	.	.	.	3.42	0.05507	T	-2.35	0.51968	N	0.113	0.10056	-0.9723	0.36712	T	0.019	0.07800	T	10	0.004674673	0.00098	T	0.010377	0.26850	T	0.088	0.25558	.	.	0.168933306366	0.16529	0.3942372021576567	0.39338	.	.	0.252693235874	0.04056	T	.	.	.	-0.592208	0.00162	T	-0.624598	0.10828	T	0.0268030799867487	0.01516	T	0.59464	0.22023	T	0.06531138	0.13945	0.0512048	0.08193	0.06531138	0.13945	0.0512048	0.08192	-7.106	0.54804	T	.	.	0.093	0.14201	B	.	.	2.465700	0.31770	18.84	0.99702856217893709	0.80729	0.02454	0.06901	N	AEFDBI	0.071413	0.14215	N	-0.483937549412463	0.22607	1.208	-0.642197718217624	0.18413	0.9835654	0.953359575416739	0.28069	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.1	0.72	0.17368	-0.187000	0.09652	1.423000	0.26381	0.599000	0.40250	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.3339:0.3531:0.313:0.0	6.992	0.23940	147	0.94143	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004541	0.005051	0.010870	0.000000	0.000000	0.000000	0.000000	0.003817	0.1	2642.14	88	chr2	219609402	.	C	T	2642.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.559;DP=469;ExcessHet=0.2348;FS=1.153;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=2.89;SOR=0.589	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1173	8	0	2	0
chr2	222930780	222930780	A	C	exonic	ACSL3	.	nonsynonymous SNV	ACSL3:NM_001354159:exon12:c.A1700C:p.E567A,ACSL3:NM_001354158:exon13:c.A1700C:p.E567A,ACSL3:NM_203372:exon13:c.A1700C:p.E567A,ACSL3:NM_004457:exon14:c.A1700C:p.E567A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.104268714219	.	.	8.25e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs757449241	1.372e-06	1.368e-06	0	2.758e-06	2.303e-05	2.3e-07	9e-08	.	.	0	2.303e-05	0	0	0	0	0	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.22	0.89398	M	1.01	0.41058	T	-4.91	0.81595	D	0.869	0.86618	-0.2478	0.76419	T	0.402	0.75302	T	10	0.86908585	0.86166	D	0.104269	0.77875	D	0.642	0.86384	0.61	0.74300	0.630264946721	0.62724	0.6808237766714985	0.68021	0.846141406368	0.68311	0.754236936569	0.75072	T	0.166296	0.51247	T	0.246088	0.78233	D	0.205443	0.83425	D	0.981701947576836	0.74064	D	0.986701	0.95453	D	0.83353674	0.86150	0.79094845	0.87705	0.83353674	0.86152	0.79094845	0.87705	-8.33	0.63297	D	.	.	0.285	0.53808	B	.;.	.;.	5.078616	0.84746	28.4	0.99562525605435248	0.71892	0.99264	0.93649	D	AEFBI	0.937494	0.93535	D	0.55537790625924	0.70409	5.49744	0.613856746261492	0.75945	6.401254	0.999999959323951	0.74766	0.741868	0.97996	0	0.743671	0.97443	0	0.743671	0.96076	0	0.662026	0.63922	0	.	.	5.74	5.74	0.90070	9.325000	0.96006	11.139000	0.87016	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.033	0.80399	955	0.09969	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	473.43	34	chr2	222930780	.	A	C	473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.686;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.737;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,22:46:99:485,0,525	9	0	1	0
chr2	224856960	224856960	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon15:c.G1690A:p.G564R,DOCK10:NM_001363762:exon15:c.G1747A:p.G583R,DOCK10:NM_014689:exon15:c.G1708A:p.G570R	.	438	1077	6	1	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.545	.	0.0036	0.00179712	0.0073	0.0013	0.0016	0	0.0189	0.0099	0.0112	0.0027	0.0055885	864	154602	rs147752392	0.0044	0.0044	0.0044	0.0044	0.0046	0.0043	0.0043	0.0045	0.0044	0.0013	0.0012	0.0005	0	0.0143	0.0033	0.0046	0.0042	0.0024	0.0037	0.0037	0.0033	0.0041	0.0048	0.0034	0.0033	0.0044	0.0042	0.0007	0	0.0010	0.0006	0	0.0146	0.0136	0.0048	0.0033	0.0037	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.23	0.89537	M	3.44	0.05375	T	-5.6	0.86608	D	0.906	0.90704	-1.0800	0.07349	T	0.061	0.25419	T	10	0.008191079	0.00186	T	.	.	.	0.545	0.81077	0.443	0.49975	0.557637382247	0.55423	0.6570825683408931	0.65645	0.730046716047	0.62692	0.812227606773	0.83834	D	0.270856	0.64315	T	-0.145724	0.28983	T	0.023028	0.71826	D	0.0562138681236204	0.06559	T	0.984901	0.94786	D	0.66764766	0.76307	0.58087593	0.75706	0.66764766	0.76308	0.58087593	0.75707	-11.14	0.81580	D	.	.	0.929	0.89791	P	.;.;.	.;.;.	4.435301	0.68814	25.3	0.99933456748133986	0.99488	0.98110	0.79682	D	AEFBI	0.914574	0.87813	D	0.893626219626821	0.91443	10.88673	0.854522730130527	0.93278	11.93824	0.999999999998327	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.53	5.53	0.82530	7.557000	0.81197	5.969000	0.51963	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.444	0.94833	851	0.35303	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.008772	0.000000	0.000000	0.003049	0.003788	0.05	891.43	36	chr2	224856960	.	C	T	891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.501;DP=408;ExcessHet=0;FS=5.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.178;SOR=0.35	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1225	9	0	1	0
chr2	224896307	224896307	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon4:c.G386A:p.R129Q,DOCK10:NM_001363762:exon4:c.G443A:p.R148Q,DOCK10:NM_014689:exon4:c.G404A:p.R135Q	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	.	.	0.00179712	0.0013	0	0	0	0	0	0.0039	0.0101	0.0010479	162	154602	rs555737439	0.0005	0.0006	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	0	6.829e-05	0	0	0	0.0012	1.817e-05	0.0004	0.0086	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.819e-05	0	0.0002	0	0	0	0	1.47e-05	0	0.0081	0.089	0.32610	T	0.04	0.55759	D	0.882	0.48483	P	0.48	0.47081	P	0.000000	0.84330	D	0.000000	0.998386	0.44847	D	2.395	0.69210	M	0.97	0.42502	T	-2.25	0.50337	N	0.46	0.49692	-0.6199	0.63993	T	0.236	0.60270	T	10	0.006584078	0.00149	T	.	.	.	0.150	0.39571	.	.	0.615590475704	0.61248	0.33974417218772685	0.33887	0.480971576196	0.47103	0.477582097054	0.35723	T	0.159596	0.50310	T	-0.289141	0.09722	T	-0.182134	0.56325	T	0.0812096572146218	0.10142	T	0.999654	0.99877	D	0.3183239	0.54498	0.24900152	0.50462	0.3183239	0.54498	0.24900152	0.50461	-2.483	0.06657	T	.	.	0.093	0.19639	B	.;.;.	.;.;.	4.626981	0.73532	26.0	0.99941825027994591	0.99824	0.98064	0.79293	D	AEFBI	0.749795	0.69112	D	0.679657539851928	0.78300	6.843719	0.686688713095577	0.81367	7.510121	0.999999999997269	0.74766	0.706298	0.61202	0	0.658105	0.61773	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	6.851000	0.75222	5.953000	0.51684	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.201	0.93697	867	0.32089	.;Dedicator of cytokinesis C/D, N-terminal;Dedicator of cytokinesis C/D, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	167.43	34	chr2	224896307	.	C	T	167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=333;ExcessHet=0;FS=1.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=0.087;SOR=1.161	GT:AD:DP:GQ:PL	0/0:29,0:29:87:0,87,821	9	0	1	0
chr2	225513525	225513525	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G376A:p.G126S,NYAP2:NM_001371273:exon4:c.G376A:p.G126S	.	428	1066	23	5	0	33	0.0152425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0087	0.00559105	0.0070	0.0131	0.0036	0	0.0015	0.0095	0.0068	0.0013	0.0064488	997	154602	rs61752215	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0105	0.0042	0.0572	2.52e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0083	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0044	0.0550	0	0.0016	0.0170	0.0066	0.0067	0.0010	1.0	0.00964	T	0.985	0.02393	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.955	0.23872	L	1.28	0.35960	T	0.06	0.06253	N	0.839	0.83473	-1.0657	0.10386	T	0.098	0.36548	T	10	0.0072583854	0.00165	T	.	.	.	0.271	0.58633	.	.	0.043077524339	0.03247	0.19063985266315145	0.18981	0.340736581271	0.36013	0.712054312229	0.68891	T	0.004777	0.04195	T	-0.423853	0.01617	T	-0.371224	0.36745	T	0.0854194623662757	0.10666	T	0.791221	0.43226	T	0.1879688	0.40274	0.24215227	0.49630	0.1879688	0.40274	0.24215227	0.49628	2.523	0.00032	T	.	.	0.148	0.32804	B	.;.	.;.	3.433565	0.47730	22.5	0.98737237100527531	0.45452	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.355289609203242	0.59019	4.078083	0.363728750906551	0.59340	4.110883	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.1	9794.14	35	chr2	225513525	.	G	A	9794.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.24;DP=774;ExcessHet=0.2348;FS=2.445;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=0.333;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	8	0	2	0
chr2	225513526	225513526	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon3:c.G377A:p.G126D,NYAP2:NM_001371273:exon4:c.G377A:p.G126D	.	426	1068	23	5	0	33	0.0152144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	.	0.0088	0.00539137	0.0070	0.0131	0.0033	0	0.0015	0.0095	0.0068	0.0013	0.0064229	993	154602	rs61753537	0.0066	0.0066	0.0067	0.0065	0.0161	0.0065	0.0064	0.0135	0.0125	0.0106	0.0040	0.0572	2.521e-05	0.0015	0.0161	0.0060	0.0102	0.0011	0.0079	0.0079	0.0082	0.0075	0.0109	0.0075	0.0074	0.0101	0.0098	0.0109	0	0.0042	0.0550	0	0.0016	0.0170	0.0066	0.0066	0.0010	0.152	0.24468	T	0.627	0.07267	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.67	0.78151	M	0.94	0.43672	T	-2.32	0.51478	N	0.91	0.91162	-0.8570	0.51477	T	0.185	0.53376	T	10	0.007973403	0.00181	T	.	.	.	0.303	0.62400	.	.	0.102598925029	0.09809	0.2733870242097265	0.27251	0.672938121939	0.59561	0.790424525738	0.80507	T	0.086051	0.37638	T	-0.3985	0.02369	T	-0.334806	0.40931	T	0.0451339892480626	0.04626	T	0.947205	0.79675	D	0.39915887	0.60674	0.43386617	0.66925	0.39915887	0.60675	0.43386617	0.66925	-6.284	0.48595	T	.	.	0.788	0.76741	P	.;.	.;.	4.722858	0.75993	26.4	0.9982111281595506	0.90414	0.93948	0.59658	D	AEFGBHCI	0.931760	0.92107	D	0.568793636542226	0.71232	5.619923	0.516089587561411	0.69071	5.308454	1.0	0.98316	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	9.526000	0.97097	11.744000	0.95258	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.434	0.94775	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020141	0.020202	0.023098	0.038012	0.000000	0.034483	0.009146	0.003788	0.1	9794.14	35	chr2	225513526	.	G	A	9794.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=775;ExcessHet=0.2348;FS=2.445;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.36;ReadPosRankSum=0.495;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	8	0	2	0
chr2	227308920	227308920	A	G	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon49:c.A4484G:p.Q1495R	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	250651	not_specified|Kidney_disorder|Alport_syndrome|Autosomal_recessive_Alport_syndrome|Autosomal_dominant_Alport_syndrome|Benign_familial_hematuria|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919|MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918|MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.307	.	0.0073	0.00259585	0.0068	0.0017	0.0021	0	0.0027	0.0101	0.0044	0.0050	0.0070116	1084	154602	rs77964815	0.0095	0.0095	0.0098	0.0093	0.0114	0.0094	0.0093	0.0113	0.0112	0.0018	0.0019	0.0006	0	0.0029	0.0082	0.0114	0.0064	0.0053	0.0056	0.0056	0.0066	0.0046	0.0103	0.0053	0.0052	0.0097	0.0094	0.0017	0.0077	0.0022	0.0009	0	0.0017	0.0034	0.0103	0.0019	0.0048	1.0	0.00964	T	1.0	0.01155	T	0.659	0.40886	P	0.541	0.48869	P	0.000028	0.55875	D	0.000000	0.996988	0.43549	D	0.955	0.23872	L	-3.39	0.94210	D	0.49	0.02993	N	0.256	0.28965	-0.0204	0.81831	T	0.460	0.79032	T	10	0.00907886	0.00205	T	.	.	.	0.307	0.62838	.	.	0.800665467327	0.79880	0.6270503934205522	0.62638	0.202560139843	0.22675	0.532744824886	0.43422	T	0.191474	0.54633	T	-0.320948	0.06821	T	-0.220822	0.52658	T	0.0491793342259959	0.05356	T	0.840916	0.51656	T	0.22895817	0.45624	0.26442328	0.52261	0.25867096	0.48917	0.3074096	0.56762	-2.874	0.08886	T	0.25660238841887395	0.34686	0.092	0.18414	B	.;.	.;.	2.960464	0.39422	21.0	0.78986793438417635	0.12540	0.71934	0.35230	D	ALL	0.288448	0.40033	N	-0.0991648954216914	0.37428	2.177447	0.0686877593950201	0.42984	2.609712	0.999999686673842	0.74766	0.487112	0.14033	0	0.68618	0.66647	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	2.137000	0.41754	7.130000	0.57621	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.9296:0.0:0.0704:0.0	10.745	0.45374	874	0.30607	Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.035354	0.009511	0.002924	0.000000	0.017241	0.012195	0.007576	0.05	1236.43	33	chr2	227308920	.	A	G	1236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.66;DP=430;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.276;SOR=0.853	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	9	0	1	0
chr2	227363746	227363746	T	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon4:c.A668C:p.K223T	.	433	1043	44	2	0	48	0.022493	.	.	.	1602291	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.120	.	0.0035	0.00539137	0.0076	0.0010	0.0016	0	0.0003	0.0062	0.0088	0.0281	0.0068757	1063	154602	rs137891000	0.0063	0.0063	0.0057	0.0070	0.0280	0.0062	0.0062	0.0271	0.0267	0.0011	0.0029	0.0329	2.519e-05	0.0006	0.0245	0.0046	0.0083	0.0280	0.0046	0.0046	0.0040	0.0052	0.0246	0.0043	0.0042	0.0210	0.0197	0.0007	0	0.0065	0.0354	0	0.0003	0.0136	0.0045	0.0057	0.0246	0.075	0.34444	T	0.032	0.53426	D	0.954	0.54400	P	0.812	0.58704	P	0.180637	0.17112	N	0.601254	1	0.08975	N	2.11	0.58565	M	1.53	0.30401	T	-2.04	0.46842	N	0.177	0.19055	-1.0304	0.20325	T	0.085	0.33269	T	10	0.0039727986	0.00077	T	.	.	.	0.120	0.33359	.	.	0.379881503574	0.37595	0.1257288560982809	0.12498	0.0415005756908	0.04460	0.282254904509	0.07809	T	0.007505	0.06912	T	-0.525279	0.00410	T	-0.506354	0.21690	T	0.0176095059824936	0.00494	T	0.588241	0.21547	T	0.086876065	0.20208	0.092055134	0.21675	0.08487282	0.19664	0.092055134	0.21674	-4.551	0.31550	T	.	.	0.184	0.39865	B	.	.	1.267217	0.16655	12.68	0.99460746838078851	0.65788	0.08078	0.14050	N	AEFBHCI	0.099348	0.20000	N	-0.236041235446511	0.31664	1.777796	-0.409087295706952	0.24730	1.355901	0.999957532355736	0.48110	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.62	1.98	0.25351	-0.109000	0.10810	0.259000	0.16521	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.836000	0.39433	0.0:0.2599:0.0:0.7401	7.081	0.24410	925	0.17918	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017623	0.010101	0.012228	0.032164	0.050000	0.000000	0.003049	0.030303	0.05	1049.43	33	chr2	227363746	.	T	G	1049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.482;DP=412;ExcessHet=0;FS=1.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.288;SOR=0.891	GT:AD:DP:GQ:PL	0/1:48,46:94:99:1061,0,1177	9	0	1	0
chr2	227702192	227702192	C	T	exonic	SLC19A3	.	nonsynonymous SNV	SLC19A3:NM_001371411:exon2:c.G127A:p.D43N,SLC19A3:NM_001371412:exon2:c.G127A:p.D43N,SLC19A3:NM_025243:exon2:c.G127A:p.D43N	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), Autosomal recessive	7	1512	3	0	0	3	0.00099108	.	.	YES	1447364	Biotin-responsive_basal_ganglia_disease	MONDO:MONDO:0011841,MedGen:C1843807,OMIM:607483,Orphanet:199348,Orphanet:65284	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.0183954320417	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs773678018	1.779e-05	1.779e-05	1.634e-05	1.925e-05	0.0002	1.238e-05	1.051e-05	1.295e-05	1.106e-05	0	0	0	0	0	0.0002	1.979e-05	1.656e-05	2.319e-05	1.316e-05	1.314e-05	0	2.695e-05	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.348	0.36709	T	0.844	0.20293	T	0.936	0.52359	P	0.809	0.58564	P	0.016225	0.28032	N	0.428263	0.602704	0.32552	D	1.78	0.46185	L	-2.1	0.86146	D	-2.4	0.65171	N	0.115	0.10340	0.225	0.86331	D	0.677	0.88814	D	10	0.19764277	0.35703	T	0.018395	0.40451	T	0.365	0.68495	.	.	0.841838749297	0.84033	0.31028645597002297	0.30941	0.0630273627958	0.07016	0.318546205759	0.13201	T	0.512581	0.82797	D	-0.225927	0.17190	T	-0.465451	0.26008	T	0.259653389453888	0.23299	T	0.890911	0.62511	D	0.056990143	0.11285	0.069916554	0.14791	0.056990143	0.11284	0.069916554	0.14790	-8.047	0.61390	D	0.3012794536031477	0.39864	0.066	0.14339	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.761980	0.22409	15.61	0.98819507633656245	0.46753	0.18047	0.20097	N	AEFBI	0.182842	0.31017	N	-0.316611926727319	0.28517	1.573568	-0.471384491610244	0.22946	1.248883	0.0010446841481125	0.08159	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.67	1.57	0.22490	-0.246000	0.08896	-0.105000	0.11895	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.986000	0.61781	0.0:0.6696:0.137:0.1934	8.034	0.29643	538	0.73119	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3656.43	248	chr2	227702192	.	C	T	3656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.36;DP=572;ExcessHet=0;FS=0.482;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.823;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	9	0	1	0
chr2	227889966	227889966	G	A	exonic	DAW1	.	nonsynonymous SNV	DAW1:NM_178821:exon3:c.G224A:p.G75D,DAW1:NM_001330004:exon4:c.G179A:p.G60D	.	439	1081	2	0	0	2	0.000924214	.	.	.	2193768	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0161452553141	0.0002	.	7.445e-05	0	8.66e-05	0	0	9.015e-05	0	0.0001	6.47e-05	10	154602	rs373453236	5.665e-05	6.02e-05	6.048e-05	5.278e-05	0.0026	4.656e-05	4.278e-05	0.0016	0.0013	3.067e-05	0.0002	0	0	1.879e-05	0.0026	4.609e-05	5.016e-05	4.793e-05	5.917e-05	5.911e-05	2.571e-05	9.423e-05	0.0003	3.079e-05	2.211e-05	0.0001	8.295e-05	0	0	0.0003	0	0	0	0	5.88e-05	0	0	0.589	0.05844	T	0.602	0.37449	T	0.145	0.27759	B	0.087	0.29615	B	0.030659	0.25278	N	0.390503	1	0.08975	N	1.91	0.51138	L	0.68	0.51952	T	-1.8	0.42384	N	0.401	0.44187	-0.9830	0.34305	T	0.119	0.41799	T	10	0.047391742	0.04051	T	0.016145	0.37263	T	0.127	0.34888	.	.	0.32980341726	0.32591	0.2645938606580081	0.26372	0.126491588652	0.14259	0.244650751352	0.03225	T	0.003727	0.20786	T	-0.347065	0.04913	T	-0.456876	0.26940	T	0.0470414871765424	0.04973	T	0.848915	0.53946	T	0.07951126	0.18169	0.10159615	0.24327	0.07951126	0.18169	0.10159615	0.24326	-6.037	0.46588	T	.	.	0.122	0.34970	B	.;.	.;.	0.758685	0.11287	7.909	0.76493822851583415	0.11490	0.12034	0.17018	N	AEFBI	0.082440	0.16692	N	-0.642115488044634	0.17691	0.9124524	-0.669115748724112	0.17735	0.9443191	0.792112003872605	0.24033	0.706298	0.61202	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.46	1.29	0.20717	1.251000	0.32465	0.107000	0.14728	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.782000	0.36987	0.0715:0.3785:0.55:0.0	10.392	0.43363	513	0.74941	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	990.43	37	chr2	227889966	.	G	A	990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.01;DP=404;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.868;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1149	9	0	1	0
chr2	229591816	229591816	C	T	exonic	DNER	.	nonsynonymous SNV	DNER:NM_139072:exon2:c.G349A:p.D117N	.	415	1099	1	0	7	8	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.240382747405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	3.42e-06	1.363e-06	5.51e-06	2.992e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.992e-05	0	0	0	0	0	2.701e-06	1.659e-05	0	6.587e-06	6.572e-06	0	1.349e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	1.0	0.00964	T	0.022	0.57587	D	0.017	0.17573	B	0.003	0.08700	B	0.164714	0.17554	N	0.628659	0.976235	0.39258	D	-0.04	0.05001	N	-2.25	0.87272	D	-0.57	0.17210	N	0.181	0.19593	-0.6581	0.62359	T	0.319	0.68839	T	10	0.10538623	0.19478	T	0.240383	0.88672	D	0.187	0.46274	0.307	0.27806	0.575483156055	0.57216	0.3690868176414553	0.36822	0.128894738699	0.14537	0.382844746113	0.22659	T	0.173935	0.52298	T	-0.16747	0.25619	T	-0.478335	0.24622	T	0.483704030513763	0.32033	T	0.289471	0.05256	T	0.034141365	0.03773	0.030199641	0.01446	0.034141365	0.03773	0.030199641	0.01446	-3.787	0.20610	T	.	.	0.081	0.08224	B	.	.	0.778799	0.11490	8.091	0.95082318958236756	0.26136	0.52178	0.29070	D	AEFDIJ	0.220625	0.34535	N	-0.709520483023827	0.15753	0.7966866	-0.553981751711738	0.20700	1.116468	0.989080022798683	0.31718	0.752111	0.98806	0	0.59043	0.45803	0	0.389834	0.06288	2	0.564101	0.26826	0	.	.	4.1	4.1	0.47196	0.266000	0.18300	0.336000	0.17333	0.599000	0.40250	0.286000	0.25196	0.115000	0.22839	0.630000	0.32157	0.0:0.905:0.0:0.095	10.091	0.41618	951	0.11083	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2476.14	33	chr2	229591816	.	C	T	2476.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.66;DP=517;ExcessHet=0.2348;FS=1.072;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.198;SOR=0.811	GT:AD:DP:GQ:PL	0/1:62,53:115:99:1277,0,1423	8	0	2	0
chr2	229976317	229976317	A	G	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.A173G:p.H58R	.	441	1066	15	0	0	15	0.00698649	.	.	.	2344268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0150657575556	0.0005	0.000199681	0.0010	0	0.0005	0	0	0.0012	0	0.0022	0.0009508	147	154602	rs139081403	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	8.965e-05	0.0010	0.0047	0	0	0.0113	0.0004	0.0013	0.0024	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	4.809e-05	0	0.0023	0.0049	0	9.414e-05	0.0034	0.0006	0.0014	0.0010	0.05	0.41096	D	0.026	0.55759	D	0.952	0.70673	P	0.601	0.62418	P	0.000000	0.84330	D	0.000000	0.884071	0.27999	N	2.695	0.78878	M	0.7	0.55266	T	-5.08	0.83092	D	0.564	0.63120	-0.4428	0.70637	T	0.329	0.69682	T	10	0.020536453	0.00475	T	0.015066	0.35586	T	0.249	0.55752	.	.	0.829300019503	0.82767	0.7481369098619418	0.74759	0.180973065125	0.20352	0.464250594378	0.33892	T	0.164	0.50943	T	-0.331705	0.05984	T	-0.255105	0.49311	T	0.123124136544954	0.14732	T	0.786621	0.43725	T	0.5184272	0.68169	0.503896	0.71323	0.5184272	0.68170	0.503896	0.71324	-3.344	0.14311	T	.	.	0.234	0.59948	B	.;.;.	.;.;.	3.820712	0.55171	23.6	0.99693346224742629	0.80112	0.85925	0.45116	D	AEFBI	0.460414	0.51060	N	0.515172305933091	0.67985	5.155493	0.461323216665259	0.65446	4.825021	0.83906728037772	0.24832	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.74	5.74	0.90070	5.674000	0.67788	10.192000	0.83237	0.748000	0.86766	0.989000	0.36753	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	13.605	0.61507	963	0.08280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.009511	0.023392	0.000000	0.017241	0.003049	0.003788	0.1	1297.14	41	chr2	229976317	.	A	G	1297.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.866;DP=394;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.072;SOR=0.678	GT:AD:DP:GQ:PL	0/1:33,22:55:99:476,0,756	8	0	2	0
chr2	230172902	230172902	C	T	exonic	SP110	.	nonsynonymous SNV	SP110:NM_001378443:exon15:c.G1648A:p.G550S,SP110:NM_004509:exon15:c.G1648A:p.G550S,SP110:NM_080424:exon15:c.G1648A:p.G550S,SP110:NM_001378442:exon16:c.G1666A:p.G556S,SP110:NM_001378444:exon16:c.G1666A:p.G556S,SP110:NM_001378445:exon16:c.G1666A:p.G556S,SP110:NM_001378446:exon16:c.G1666A:p.G556S	Hepatic venoocclusive disease with immunodeficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0274627462352	.	.	5.769e-05	0	0	0.0001	0	7.495e-05	0	6.058e-05	4.53e-05	7	154602	rs773059144	2.394e-05	2.394e-05	2.178e-05	2.613e-05	6.956e-05	1.738e-05	1.539e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	2.518e-05	1.656e-05	6.956e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.031	0.45039	D	0.027	0.55341	D	0.259	0.31472	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0.49	0.13296	N	-2.17	0.86624	D	0.52	0.03297	N	0.244	0.27554	-0.5989	0.64862	T	0.387	0.74231	T	9	0.14274213	0.27109	T	0.027463	0.50267	D	0.113	0.31778	.	.	0.664442808903	0.66162	0.37521207737349355	0.37435	0.563213150992	0.52764	0.254525542259	0.04259	T	0.006412	0.05843	T	-0.205596	0.20004	T	-0.351573	0.39025	T	0.0864906374501622	0.10796	T	0.665633	0.51512	T	0.0321454	0.03184	0.047662813	0.06916	0.0321454	0.03184	0.047662813	0.06915	-5.44	0.43667	T	.	.	0.105	0.20857	B	.;.	.;.	0.732302	0.11018	7.673	0.96238454844528809	0.29141	0.06589	0.12604	N	AEFDBCI	0.051894	0.09212	N	-0.806875791587629	0.13134	0.6449134	-0.854664805022837	0.13176	0.6820796	0.0783519833773028	0.15786	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	3.55	2.66	0.30672	0.044000	0.13876	-2.075000	0.04251	-0.280000	0.06433	0.005000	0.17040	0.000000	0.08366	0.036000	0.13842	0.0:0.8692:0.0:0.1308	7.275	0.25451	929	0.16858	.;Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	36	chr2	230172902	.	C	T	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=487;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=2.71;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr2	230392195	230392195	G	A	exonic	SP140L	.	nonsynonymous SNV	SP140L:NM_001308163:exon10:c.G893A:p.R298H,SP140L:NM_001352894:exon10:c.G893A:p.R298H,SP140L:NM_001308162:exon11:c.G998A:p.R333H,SP140L:NM_001352893:exon11:c.G968A:p.R323H,SP140L:NM_001352892:exon12:c.G1073A:p.R358H,SP140L:NM_138402:exon12:c.G1073A:p.R358H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0798866497882	8e-05	0.000399361	0.0002	0	0	0.0010	0	0.0001	0	0.0001	0.0001358	21	154602	rs187540993	9.236e-05	9.235e-05	7.351e-05	0.0001	0.0004	7.958e-05	7.432e-05	0.0003	0.0002	0	2.237e-05	0	0.0004	0	0	9.263e-05	4.968e-05	0.0001	0.0001	0.0001	0.0001	0.0001	0.0013	8.657e-05	7.251e-05	0.0006	0.0004	0	0	0	0	0.0013	0.0002	0	0.0002	0	0	0.034	0.46129	D	0.066	0.48594	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.63	0.76995	M	-1.42	0.80645	T	-3.84	0.72240	D	0.284	0.38335	-0.3756	0.72789	T	0.586	0.85158	D	9	0.07041067	0.10239	T	0.079887	0.73337	D	0.311	0.63269	.	.	0.745894655361	0.74360	0.24082672146950818	0.23996	0.405184930583	0.41409	0.292240083218	0.09249	T	0.367083	0.85980	T	-0.264209	0.12411	T	-0.226408	0.52119	T	0.236022576535393	0.22235	T	0.907009	0.69352	D	0.084876224	0.19664	0.14630355	0.34666	0.084876224	0.19664	0.14630355	0.34665	-8.742	0.66021	D	.	.	0.227	0.45895	B	.;.;.;.	.;.;.;.	2.753741	0.36104	20.2	0.99779425141607003	0.86606	0.01867	0.05758	N	AEFBI	0.029217	0.02717	N	-0.323810935885494	0.28245	1.556386	-0.636101978272373	0.18567	0.9924888	0.00487256818174016	0.10746	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	3.44	-1.81	0.07456	-0.178000	0.09775	-0.916000	0.06937	0.618000	0.50648	0.006000	0.17386	0.000000	0.08366	0.020000	0.11549	0.4505:0.0:0.3655:0.184	3.409	0.06925	958	0.09170	.;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND domain;SAND domain|SAND domain|SAND domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2255.43	151	chr2	230392195	.	G	A	2255.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.47;DP=1143;ExcessHet=0;FS=0.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=0.951;QD=10.49;ReadPosRankSum=1.02;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	9	0	1	0
chr2	230875806	230875806	C	T	exonic	ITM2C	.	nonsynonymous SNV	ITM2C:NM_001012514:exon2:c.C307T:p.R103W,ITM2C:NM_001012516:exon3:c.C448T:p.R150W,ITM2C:NM_001287240:exon3:c.C262T:p.R88W,ITM2C:NM_030926:exon3:c.C448T:p.R150W,ITM2C:NM_001287241:exon4:c.C448T:p.R150W	.	.	.	.	.	.	.	.	0.9946	0.768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.208835630294	.	.	5.24e-05	0	0	0	0.0008	0	0.0012	0	3.88e-05	6	154602	rs146175008	1.771e-05	3.293e-05	1.659e-05	1.888e-05	9.876e-07	1.179e-05	9.85e-06	.	.	0	0	0	0	0.0005	0	9.876e-07	0	0	4.357e-05	3.963e-05	6.583e-05	1.852e-05	.	1.674e-05	1.025e-05	.	.	0	0	0	0	0	0.0009	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.8	0.81625	M	-1.37	0.80214	T	-6.75	0.92782	D	0.891	0.89131	0.326	0.87973	D	0.633	0.87159	D	10	0.5629531	0.65504	D	0.208836	0.87167	D	0.751	0.91456	0.546	0.66015	0.895792057999	0.89476	0.8796640187078952	0.87934	0.892270593278	0.70263	0.883351802826	0.94408	D	0.247362	0.71208	T	0.380293	0.88728	D	0.308488	0.88585	D	0.866350889205933	0.51641	D	0.980102	0.95172	D	0.7855013	0.82993	0.67686254	0.81022	0.7855013	0.82995	0.67686254	0.81023	-6.105	0.47150	T	.	.	0.723	0.73988	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	7.041244	0.96069	35	0.99908944422033041	0.97875	0.90416	0.51574	D	AEFDBCI	0.940410	0.94232	D	0.511230810165062	0.67751	5.123848	0.43923379049788	0.64027	4.648925	0.992896604623574	0.33008	0.706298	0.61202	0	0.702456	0.74545	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.19	3.3	0.36912	0.713000	0.25464	0.216000	0.16018	0.549000	0.26987	0.999000	0.42656	0.969000	0.29651	0.988000	0.63387	0.3421:0.6579:0.0:0.0	10.742	0.45355	643	0.63827	BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;.;.;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	57	chr2	230875806	.	C	T	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.203;DP=530;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-1.418;SOR=0.412	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,115,1755	9	0	1	0
chr2	231037803	231037803	C	A	exonic	C2orf72	.	nonsynonymous SNV	C2orf72:NM_001144994:exon1:c.C238A:p.R80S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0112319189305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.196e-06	2.052e-06	2.223e-06	0	1.31e-06	0	0	.	.	0	0	0	0	0	0	1.31e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.721	0.05327	T	0.09	0.25173	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	-0.44	0.14588	N	0.086	0.06322	-1.0210	0.23389	T	0.038	0.16290	T	8	0.040344536	0.02595	T	0.011232	0.28641	T	0.015	0.02232	0.279	0.23323	0.0297737177859	0.01360	0.2179790604810889	0.21713	.	.	.	.	.	0.00105	0.00580	T	-0.235769	0.15892	T	-0.576443	0.14863	T	0.0791372880339622	0.09875	T	0.323768	0.06600	T	0.07223487	0.16053	0.054446213	0.09365	0.07223487	0.16052	0.054446213	0.09365	-3.905	0.22377	T	.	.	0.182	0.39477	B	.	.	1.002710	0.13811	10.36	0.88469563149121688	0.18001	0.00878	0.03471	N	AEFDBCI	0.033024	0.03841	N	-1.30798860187282	0.03583	0.1603103	-1.43107317089966	0.02946	0.1364914	0.999999981071189	0.74766	0.403107	0.06075	0	0.491552	0.07993	0	0.608004	0.38603	0	0.562822	0.20929	0	.	.	2.54	-5.08	0.02708	-0.070000	0.11483	-2.508000	0.03669	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.1827:0.3122:0.2927:0.2125	0.840	0.01074	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	30.77	1	chr2	231037803	.	C	A	30.77	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=22;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,83	8	0	1	1
chr2	231108647	231108647	G	C	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.C1316G:p.P439R,HTR2B:NM_001320758:exon4:c.C1190G:p.P397R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0259814893166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.018	0.59732	D	0.747	0.43174	P	0.422	0.45143	B	0.000065	0.52346	D	0.202842	0.999999	0.81001	D	1.795	0.47270	L	0.27	0.59176	T	-2.19	0.49352	N	0.154	0.15888	-0.7056	0.60169	T	0.245	0.61331	T	10	0.28789857	0.46372	T	0.025981	0.48919	D	0.196	0.47777	0.394	0.41935	0.918227514832	0.91740	0.5812556721169575	0.58054	0.198794521123	0.22261	0.386411428452	0.23162	T	0.209136	0.56927	T	0.0288559	0.55572	T	-0.196327	0.54994	T	0.946618556976318	0.62507	D	0.825917	0.48908	T	0.42155147	0.62195	0.6005724	0.76795	0.42155147	0.62195	0.6005724	0.76796	-3.474	0.16070	T	.	.	0.11	0.21201	B	.	.	3.638861	0.51583	23.1	0.99655786592801632	0.77631	0.99343	0.94772	D	AEFBI	0.903195	0.85198	D	0.57704169635118	0.71743	5.69758	0.659718738047485	0.79335	7.060979	0.999999999999991	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	5.9	5.9	0.94952	7.687000	0.83428	8.734000	0.78191	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.279	0.98503	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	843.43	33	chr2	231108647	.	G	C	843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.441;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.347;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	9	0	1	0
chr2	231214830	231214830	G	A	splicing	ARMC9	NM_001271466:exon4:c.178-1G>A;NM_001352757:exon4:c.178-1G>A;NM_001352756:exon4:c.178-1G>A;NM_025139:exon4:c.178-1G>A;NM_001352759:exon4:c.178-1G>A;NM_001352758:exon4:c.178-1G>A;NM_001352755:exon4:c.178-1G>A;NM_001291656:exon4:c.178-1G>A;NM_001352754:exon4:c.178-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.932	YES	959575	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.295e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs781417301	3.421e-06	3.42e-06	4.084e-06	2.751e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.598e-06	0	0	1.971e-05	1.97e-05	0	4.036e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427509	0.91406	D	0.376311	0.91300	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.711270	0.93173	33	0.99479123329748409	0.66795	0.97923	0.78155	D	AEFDGBCI	.	.	.	1.27559742842659	0.99955	33.71423	1.14330894470173	0.99948	33.14012	1.0	0.98316	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.117559	0.03655	0	0.989227	0.97985	5.81	5.81	0.92413	9.844000	0.98359	11.497000	0.92950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.064	0.97701	946	0.12043	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	480.43	34	chr2	231214830	.	G	A	480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=363;ExcessHet=0;FS=2.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.398;SOR=1.125	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	9	0	1	0
chr2	231355889	231355889	A	G	exonic	ARMC9	.	nonsynonymous SNV	ARMC9:NM_001271466:exon22:c.A2086G:p.R696G,ARMC9:NM_001352754:exon22:c.A2086G:p.R696G	.	431	1084	7	0	0	7	0.00321839	.	.	.	850624	ARMC9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	.	0.000399361	0.0033	0.0018	0	0	0	0	0	0.0055	0.0002975	46	154602	rs536000748	0.0005	0.0005	0.0004	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	0	2.801e-05	0	0	0	0.0016	0.0002	0.0004	0.0065	0.0003	0.0003	0.0002	0.0004	0.0048	0.0002	0.0002	0.0033	0.0028	2.405e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0048	.	.	.	0.313	0.19539	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.245	0.31408	L	.	.	.	.	.	.	0.078	0.05287	-1.0103	0.26823	T	0.048	0.20632	T	5	0.003667593	0.00067	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.2664024794692467	0.26553	.	.	0.212667569518	0.00930	T	0.066998	0.33087	T	-0.441211	0.01272	T	-0.403934	0.32928	T	0.0393220703384064	0.03568	T	0.370263	0.08727	T	0.102923565	0.24323	0.07763678	0.17315	0.102923565	0.24322	0.07763678	0.17314	-3.394	0.14976	T	.	.	0.070	0.03887	B	.;.	.;.	-0.539713	0.01744	0.131	0.78853936401244029	0.12481	0.01026	0.03852	N	AEFDBI	.	.	.	-0.626893826490276	0.18140	0.939364	-0.775706394163786	0.15091	0.7919886	0.998326481345788	0.36758	0.089122	0.02304	2	0.097471	0.02872	0	0.076361	0.02342	2	0.007143	0.00067	3	0.171638	0.28971	3.85	-0.116	0.12895	-0.384000	0.07447	-0.441000	0.09160	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.089000	0.17737	0.5889:0.1908:0.2203:0.0	3.741	0.08056	916	0.20744	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	969.43	41	chr2	231355889	.	A	G	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.476;DP=413;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.497;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	9	0	1	0
chr2	231460686	231460688	TCC	-	exonic	NCL	.	nonframeshift deletion	NCL:NM_005381:exon4:c.792_794del:p.E271del	.	403	1114	5	0	0	5	0.00223914	.	.	.	719700	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0166	.	0.0042	0.0209	0.0023	0.0043	0.0041	0.0019	0.0011	0.0043	0.0008452	22	26028	rs199829854	0.0023	0.0023	0.0023	0.0023	0.0212	0.0022	0.0022	0.0199	0.0194	0.0212	0.0025	0.0013	0.0025	0.0053	0.0029	0.0014	0.0030	0.0040	0.0072	0.0072	0.0071	0.0074	0.0201	0.0069	0.0067	0.0189	0.0185	0.0201	0	0.0036	0.0023	0.0022	0.0035	0	0.0018	0.0076	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005699	0.015152	0.001359	0.013986	0.000000	0.000000	0.009146	0.000000	0.05	2490.39	126	chr2	231460685	.	TTCC	T	2490.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.945;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.77;ReadPosRankSum=0.588;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	9	0	1	0
chr2	231525360	231525360	C	T	exonic	NMUR1	.	nonsynonymous SNV	NMUR1:NM_006056:exon3:c.G964A:p.V322I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00243931198973	.	0.00159744	0.0011	0	8.669e-05	0	0	0	0.0011	0.0079	0.0009185	142	154602	rs561296009	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0005	0.0074	0.0072	5.974e-05	0	3.827e-05	2.519e-05	0	0.0002	1.709e-05	0.0005	0.0078	0.0003	0.0003	0.0002	0.0004	0.0083	0.0003	0.0002	0.0062	0.0055	7.215e-05	0	6.533e-05	0	0	0	0	2.94e-05	0.0024	0.0083	0.131	0.26629	T	0.206	0.27056	T	0.009	0.15093	B	0.008	0.13708	B	0.016126	0.28059	N	0.422188	0.999949	0.19238	N	0.235	0.09667	N	1.24	0.36691	T	0.58	0.02598	N	0.031	0.00770	-1.0879	0.05890	T	0.030	0.12848	T	10	0.013422489	0.00285	T	0.002439	0.04813	T	0.101	0.28911	0.715	0.85051	0.405700215632	0.40186	0.17421341847945582	0.17340	0.14311169101	0.16145	0.227450877428	0.01784	T	0.076473	0.35426	T	-0.666599	0.00057	T	-0.725313	0.04543	T	0.0269949021824409	0.01543	T	0.237876	0.03362	T	0.018911634	0.00415	0.04143181	0.04708	0.018911634	0.00415	0.04143181	0.04707	-4.89	0.35622	T	.	.	0.077	0.06525	B	.	.	0.129939	0.05258	1.759	0.87237076987361351	0.17085	0.72888	0.35663	D	AEFBI	0.131683	0.25072	N	-1.52213438768635	0.01704	0.07460626	-1.46961609071195	0.02597	0.1197147	0.184577065919541	0.17918	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.22	-3.63	0.04238	2.173000	0.42099	1.100000	0.24060	-1.538000	0.00984	1.000000	0.71638	0.048000	0.21764	0.097000	0.18139	0.4599:0.1181:0.198:0.224	0.793	0.00994	952	0.10565	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1809.43	34	chr2	231525360	.	C	T	1809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=2.05;SOR=0.67	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1005	9	0	1	0
chr2	232336581	232336583	AGG	-	exonic	DIS3L2	.	nonframeshift deletion	DIS3L2:NM_152383:exon21:c.2609_2611del:p.E874del	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	517951	Perlman_syndrome	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs749247083	2.128e-05	2.394e-05	1.776e-05	2.483e-05	6.957e-05	1.525e-05	1.329e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	2.248e-05	0	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3985.1	34	chr2	232336580	.	AAGG	A	3985.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.356;DP=513;ExcessHet=0.2348;FS=0.518;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.93;ReadPosRankSum=-0.107;SOR=0.693	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1813,0,2037	8	0	2	0
chr2	232380881	232380881	C	G	exonic	ALPP	.	nonsynonymous SNV	ALPP:NM_001632:exon9:c.C1042G:p.R348G	.	443	1072	6	0	1	7	0.0027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	.	.	0.013778	0.0120	0.0135	0	0.0394	0	0	0.0088	0.0332	0.0030352	79	26028	rs377376739	0.0016	0.0017	0.0013	0.0018	0.0186	0.0015	0.0015	0.0175	0.0170	0.0074	0.0006	0	0.0186	0	0.0002	2.64e-05	0.0022	0.0130	0.0033	0.0039	0.0033	0.0034	0.0183	0.0031	0.0030	0.0153	0.0142	0.0079	0	0.0013	0	0.0183	0	0	4.431e-05	0.0010	0.0138	0.371	0.11514	T	0.336	0.18232	T	0.982	0.60036	D	0.847	0.60522	P	0.440416	0.04757	N	1.404110	1	0.08975	N	1.05	0.26816	L	-3.97	0.96243	D	-2.84	0.59873	D	0.233	0.26233	0.315	0.87793	D	0.828	0.94214	D	10	0.015185952	0.00319	T	.	.	.	0.318	0.64008	.	.	0.962777890143	0.96238	0.6777074741986587	0.67709	3.27526946253	0.99552	0.270977705717	0.06268	T	0.518579	0.83121	D	-0.318631	0.07011	T	-0.214212	0.53292	T	0.0336998166081626	0.02588	T	0.0440956	0.00310	T	0.50394845	0.67326	0.27589935	0.53530	0.50394845	0.67327	0.27589935	0.53529	-8.375	0.63599	D	.	.	0.226	0.45786	B	.	.	1.337130	0.17432	13.16	0.84659003932573551	0.15421	0.22095	0.21629	N	AEFGI	0.451564	0.50549	N	-0.629267103873481	0.18069	0.9351381	-0.864791235835389	0.12932	0.6681146	0.00504474497912267	0.10808	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.2	-2.01	0.07003	-0.273000	0.08580	-15.109000	0.00371	0.331000	0.19555	0.000000	0.06391	0.000000	0.08366	0.800000	0.37734	0.4302:0.4772:0.0:0.0925	6.636	0.22075	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001107	0.000000	0.002778	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	345.43	42	chr2	232380881	.	C	G	345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.11;DP=440;ExcessHet=0;FS=10.753;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=27.16;MQRankSum=-0.773;QD=4.32;ReadPosRankSum=2.11;SOR=0.044	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr2	232524146	232524146	G	A	exonic	PRSS56	.	nonsynonymous SNV	PRSS56:NM_001195129:exon10:c.G1294A:p.A432T,PRSS56:NM_001369848:exon10:c.G1297A:p.A433T	Microphthalmia, isolated 6, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	.	2438323	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.429705568392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166788257	1.176e-05	1.437e-05	1.014e-05	1.343e-05	0.0004	6.96e-06	5.63e-06	6.857e-05	2.868e-05	0	0	0	0	0	0.0004	1.309e-05	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	0.14998326	0.28375	T	0.429706	0.93957	D	.	.	.	.	0.266385636622	0.26244	0.3461554976186714	0.34529	.	.	0.728302359581	0.71258	T	0.010905	0.09797	T	-0.090476	0.37996	T	-0.367739	0.37152	T	.	.	.	0.582942	0.21167	T	0.037450023	0.04802	0.11440083	0.27615	0.037450023	0.04801	0.11440083	0.27614	-4.825	0.34881	T	.	.	0.077	0.06942	B	.;.	.;.	2.324342	0.29769	18.23	0.94021437066164626	0.24129	0.10116	0.15710	N	AEFDBCI	0.068026	0.13401	N	.	.	.	.	.	.	0.999980992463292	0.51787	0.166803	0.03914	0	0.166317	0.03975	0	0.182457	0.04408	0	0.109499	0.03221	0	.	.	3.81	1.91	0.24841	1.075000	0.30328	1.122000	0.24252	0.590000	0.31872	0.039000	0.20931	0.018000	0.20648	0.154000	0.20445	0.1055:0.0:0.6985:0.196	5.748	0.17402	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	425.43	40	chr2	232524146	.	G	A	425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.299;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=1.92;SOR=0.76	GT:AD:DP:GQ:PL	0/0:28,0:28:76:0,76,888	9	0	1	0
chr2	232525474	232525474	A	-	exonic	PRSS56	.	frameshift deletion	PRSS56:NM_001195129:exon13:c.1780delA:p.N594Tfs*72,PRSS56:NM_001369848:exon13:c.1783delA:p.N595Tfs*72	Microphthalmia, isolated 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	574.39	37	chr2	232525473	.	CA	C	574.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.926;DP=411;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.165;SOR=0.807	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	9	0	1	0
chr2	232526593	232526593	C	G	exonic	CHRND	.	nonsynonymous SNV	CHRND:NM_000751:exon2:c.C117G:p.N39K,CHRND:NM_001256657:exon2:c.C117G:p.N39K	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	192261	Lethal_multiple_pterygium_syndrome|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.399	.	0.0012	0.00698882	0.0054	0.0007	0.0192	0.0282	0	0.0018	0.0033	0.0035	0.0050064	774	154602	rs77084550	0.0035	0.0035	0.0035	0.0035	0.0371	0.0034	0.0034	0.0356	0.0349	0.0004	0.0167	0.0002	0.0371	0.0002	0.0024	0.0021	0.0035	0.0036	0.0034	0.0035	0.0031	0.0038	0.0261	0.0032	0.0031	0.0225	0.0212	0.0008	0	0.0118	0	0.0261	0	0.0034	0.0021	0.0038	0.0052	0.034	0.46513	D	0.021	0.66756	D	0.005	0.12996	B	0.012	0.16012	B	0.144507	0.18176	N	0.600408	0.997896	0.81001	D	2.225	0.63025	M	-1.28	0.79376	T	-3.95	0.74661	D	0.354	0.39659	-0.3769	0.72748	T	0.239	0.60714	T	10	0.009984076	0.00224	T	.	.	.	0.399	0.71321	0.6	0.73105	0.88740826396	0.88630	0.7436477591924203	0.74310	0.317858102707	0.34021	0.346195936203	0.17360	T	0.568302	0.85664	D	-0.337794	0.05543	T	-0.238397	0.50954	T	0.0432244219231061	0.04278	T	0.711729	0.33319	T	0.3508388	0.57132	0.4699316	0.69260	0.45212847	0.64176	0.44910714	0.67932	-9.847	0.80872	D	0.4331470553667841	0.51994	0.524	0.65652	A	.;.;.	.;.;.	2.951193	0.39270	20.9	0.99236705885937471	0.56405	0.96189	0.67943	D	AEFDBI	0.691942	0.65177	D	-0.175572978887102	0.34153	1.946022	-0.14906041906412	0.33445	1.913175	0.999999366420887	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	3.84	0.43422	2.012000	0.40551	0.131000	0.15046	0.599000	0.40250	1.000000	0.71638	0.479000	0.25092	0.964000	0.52637	0.155:0.6956:0.1494:0.0	10.096	0.41651	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.;Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	604.43	38	chr2	232526593	.	C	G	604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.868;DP=380;ExcessHet=0;FS=5.494;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.084;SOR=1.236	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	9	0	1	0
chr2	232847515	232847515	C	0	exonic	GIGYF2	.	.	.	.	20	155	23	3	25	54	0.0855457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4064.42	129	chr2	232847515	.	C	*	4064.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=909;ExcessHet=0.7463;FS=0.395;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=2.25;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:99:.:.:0,120,1800:.	9	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	14648.5	129	chr2	232847516	.	CACA	*	14648.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.244;DP=958;ExcessHet=0.3701;FS=2.618;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.06;ReadPosRankSum=0.109;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:71,0:123:99:0|1:232847516_CACA_C:1868,2082,4913:232847516	9	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4156.0	117	chr2	232847517	.	A	*	4156.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.101;DP=939;ExcessHet=0.3131;FS=1.955;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=0.509;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,52:114:99:.:.:1875,0,2590:.	4	2	4	0
chr2	233462650	233462650	A	G	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon24:c.A2702G:p.N901S,DGKD:NM_003648:exon25:c.A2969G:p.N990S,DGKD:NM_152879:exon26:c.A3101G:p.N1034S	.	406	1104	11	1	0	13	0.00585322	.	.	.	3205201	DGKD-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.135	.	.	0.00319489	0.0030	0	0.0006	0	0	8.996e-05	0.0077	0.0210	0.0025614	396	154602	rs201384247	0.0012	0.0012	0.0006	0.0018	0.0189	0.0011	0.0011	0.0182	0.0178	2.987e-05	4.473e-05	0	0	0	0.0016	7.195e-06	0.0013	0.0189	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.046294	0.23454	N	0.439500	0.981593	0.25027	N	-0.14	0.04484	N	-1.0	0.78199	T	0.16	0.05217	N	0.059	0.03069	-0.9630	0.38606	T	0.138	0.45545	T	10	0.004060954	0.00079	T	.	.	.	0.135	0.36572	0.256	0.19689	0.407223025684	0.40337	0.06614763545967561	0.06553	0.388573688024	0.40119	0.328598856926	0.14722	T	0.05319	0.29372	T	-0.380252	0.03105	T	-0.608135	0.12136	T	0.00399687234021469	0.00042	T	.	.	.	0.021439802	0.00746	0.025286177	0.00569	0.021439802	0.00746	0.025286177	0.00569	-1.101	0.01118	T	.	.	0.067	0.02927	B	.;.	.;.	0.526691	0.08954	5.735	0.20337870859659538	0.00727	0.59331	0.30886	D	AEFBCI	0.070745	0.14055	N	-1.04244424391411	0.07736	0.3604049	-0.910491983081611	0.11846	0.6059977	0.696190951250509	0.22644	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.08	-1.44	0.08391	0.137000	0.15816	-0.179000	0.11150	-0.054000	0.16847	0.736000	0.28985	0.000000	0.08366	0.676000	0.33425	0.4875:0.278:0.2345:0.0	4.868	0.12976	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.011364	0.1	2215.14	34	chr2	233462650	.	A	G	2215.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=467;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.16;SOR=0.708	GT:AD:DP:GQ:PL	0/1:51,43:94:99:1111,0,1219	8	0	2	0
chr2	233551416	233551416	G	A	exonic	USP40	.	nonsynonymous SNV	USP40:NM_001365479:exon7:c.C797T:p.T266I,USP40:NM_001382295:exon7:c.C797T:p.T266I,USP40:NM_001382296:exon7:c.C797T:p.T266I,USP40:NM_001382297:exon7:c.C797T:p.T266I,USP40:NM_001382299:exon7:c.C797T:p.T266I,USP40:NM_001382300:exon7:c.C797T:p.T266I,USP40:NM_001382301:exon7:c.C797T:p.T266I,USP40:NM_018218:exon7:c.C797T:p.T266I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0211454813187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.991	0.64070	D	0.931	0.66596	D	0.021598	0.26803	N	0.451624	0.802056	0.34524	D	2.48	0.72069	M	1.48	0.31731	T	-3.2	0.64710	D	0.744	0.74918	-0.4265	0.71180	T	0.233	0.59928	T	10	0.7485858	0.75469	D	0.021145	0.43873	T	0.352	0.67326	0.523	0.62668	0.585382094262	0.58212	0.2674321121739993	0.26656	0.173741090173	0.19561	0.495058357716	0.38140	T	0.013729	0.11817	T	-0.0713418	0.41112	T	-0.340254	0.40316	T	0.942872643470764	0.61749	D	0.89491	0.63503	D	0.13332939	0.31015	0.17038059	0.39143	0.13332939	0.31015	0.17038059	0.39142	-9.721	0.72224	D	.	.	0.142	0.34840	B	.;.;.	.;.;.	3.037286	0.40708	21.2	0.9989187869890449	0.96589	0.89378	0.49806	D	AEFBI	0.321575	0.42433	N	0.601830131885395	0.73291	5.942076	0.506147270835235	0.68402	5.215241	0.999999948911874	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	3.659000	0.54227	7.466000	0.59102	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.709000	0.34421	0.0:0.0:1.0:0.0	19.660	0.95860	773	0.48803	.;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	239.82	35	chr2	233551416	.	G	A	239.82	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.143;DP=467;ExcessHet=1.5895;FS=202.816;InbreedingCoeff=-0.2375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.482;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,4:24:82:0|1:233551415_T_C:82,0,710:233551415	6	0	4	0
chr2	233637282	233637282	C	T	exonic	UGT1A10	.	stopgain	UGT1A10:NM_019075:exon1:c.C760T:p.R254X	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000798722	0.0005	0.0038	8.637e-05	0	0	5.997e-05	0	0.0007	0.0003881	60	154602	rs61748821	0.0002	0.0002	0.0002	0.0002	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0002	0	2.519e-05	0	0.0003	1.079e-05	0.0002	0.0007	0.0010	0.0010	0.0011	0.0008	0.0032	0.0009	0.0008	0.0028	0.0026	0.0032	0	0.0005	0	0.0002	0	0	5.88e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.751	0.75009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195615	0.54322	T	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.027261	0.96051	35	0.996564195106312	0.77631	0.07703	0.13706	N	AEFGI	0.121528	0.23623	N	0.00934826952317588	0.42280	2.544461	-0.316884459816916	0.27553	1.529699	7.73690491685624E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	-0.726	0.10606	0.394000	0.20559	-20.000000	0.00162	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.330000	0.25202	0.6397:0.3602:0.0:0.0	12.880	0.57400	471	0.78036	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5128.14	43	chr2	233637282	.	C	T	5128.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.27;DP=790;ExcessHet=0.2348;FS=3.221;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.98;MQRankSum=0;QD=12.36;ReadPosRankSum=0.681;SOR=0.468	GT:AD:DP:GQ:PL	0/1:93,101:194:99:2587,0,2154	8	0	2	0
chr2	233713742	233713742	C	T	exonic	UGT1A5	.	nonsynonymous SNV	UGT1A5:NM_019078:exon1:c.C751T:p.H251Y	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.0113149828291	0.0002	.	7.414e-05	0.0003	0	0	0	8.992e-05	0	0	3.84e-05	1	26028	rs138898755	1.437e-05	0.0002	2.043e-05	8.256e-06	0.0005	9.24e-06	7.84e-06	0.0001	0.0001	0.0003	6.709e-05	0	0	0	0.0005	2.7e-06	4.972e-05	0	0.0001	0.0003	0.0002	0.0001	0.0004	9.749e-05	8.262e-05	0.0002	0.0002	0.0004	0	6.546e-05	0.0003	0	9.438e-05	0	4.415e-05	0	0	0.113	0.28772	T	0.101	0.38596	T	0.0	0.02946	B	0.001	0.04355	B	0.727123	0.09886	N	0.881421	1	0.08975	N	0.835	0.21042	L	0.21	0.59983	T	-1.98	0.45769	N	0.158	0.16447	-0.9489	0.41160	T	0.136	0.45222	T	10	0.06871006	0.09755	T	0.011315	0.28804	T	0.052	0.14661	.	.	0.536051623013	0.53255	0.2669587053222542	0.26608	0.191408661664	0.21466	.	.	.	0.136938	0.46959	T	-0.287273	0.09911	T	-0.650424	0.08924	T	0.0090427826824865	0.00113	T	0.183282	0.01882	T	0.080699556	0.18503	0.07667488	0.17005	0.080699556	0.18503	0.07667488	0.17005	-6.372	0.49291	T	0.18648030298997914	0.24275	0.109	0.20819	B	.	.	-0.299102	0.02622	0.328	0.80527642509212338	0.13245	0.03078	0.07994	N	AEFGBI	0.080123	0.16195	N	-0.920671171938925	0.10359	0.4946523	-1.00098062331752	0.09764	0.4876765	0.941526819798305	0.27481	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.73	-0.631	0.10947	-1.152000	0.03283	-2.502000	0.03676	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3028:0.3787:0.0:0.3185	4.286	0.10302	482	0.77288	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2466.43	33	chr2	233713742	.	C	T	2466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.516;DP=1168;ExcessHet=0;FS=3.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.63;MQRankSum=-6.296;QD=6.68;ReadPosRankSum=-1.531;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1627:.	9	0	1	0
chr2	233719499	233719499	T	G	exonic	UGT1A4	.	nonsynonymous SNV	UGT1A4:NM_007120:exon1:c.T679G:p.F227V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00573746278558	.	.	2.471e-05	0	0	0	0	4.495e-05	0	0	0.0001537	4	26028	rs761613256	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	2.988e-05	0.0001	0.0019	0	7.49e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.221e-05	0	0.0003	0.0015	0	0	0	0.0004	0	0	0.264	0.16358	T	0.209	0.26798	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.29	0.00724	N	0.21	0.59983	T	-0.15	0.09297	N	0.027	0.00571	-1.0436	0.16236	T	0.078	0.31072	T	9	0.028502882	0.00982	T	0.005737	0.14892	T	0.039	0.10176	.	.	0.0551355673512	0.04727	0.2810788905933451	0.28020	0.0289275818921	0.02979	0.27887159586	0.07335	T	0.108492	0.42158	T	-0.465863	0.00903	T	-0.725428	0.04538	T	0.067851069037009	0.08347	T	0.0310969	0.00196	T	0.03127977	0.02939	0.037190914	0.03321	0.03127977	0.02939	0.037190914	0.03321	-4.373	0.29188	T	0.06516322713848298	0.02128	0.097	0.15654	B	.	.	-2.066901	0.00087	0.002	0.42419310585553532	0.03126	0.00592	0.02653	N	AEFBI	0.483196	0.52374	N	-2.47573356583498	0.00018	0.0007854947	-2.59448812541544	0.00014	0.0006167354	0.999999900159322	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.49	-8.98	0.00647	-5.409000	0.00148	-20.000000	0.00162	-6.354000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0888:0.0655:0.2356:0.61	5.583	0.16543	486	0.77016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	73.43	43	chr2	233719499	.	T	G	73.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=1054;ExcessHet=0;FS=7.295;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.69;MQRankSum=-13.44;QD=0.38;ReadPosRankSum=-4.056;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:99:.:.:0,99,1485:.	9	0	1	0
chr2	236392065	236392065	C	T	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon10:c.G1201A:p.E401K,IQCA1:NM_001270585:exon11:c.G1345A:p.E449K,IQCA1:NM_024726:exon11:c.G1324A:p.E442K	.	430	1090	1	1	0	3	0.00137426	.	.	.	3274834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.791	0.248301215959	.	0.000199681	2.484e-05	0	0	0	0	4.496e-05	0	0	2.59e-05	4	154602	rs531718193	6.159e-06	6.156e-06	1.362e-06	1.1e-05	3.478e-05	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	4.498e-06	1.657e-05	3.478e-05	6.563e-06	6.561e-06	0	1.342e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.006	0.61437	D	0.071	0.60972	T	0.931	0.51899	P	0.566	0.49756	P	0.000035	0.55875	D	0.000000	0.999866	0.50061	D	.	.	.	-3.84	0.95826	D	-3.12	0.63782	D	0.531	0.55972	1.034	0.97789	D	0.914	0.97147	D	10	0.43228185	0.57569	T	0.248301	0.89004	D	0.791	0.93108	0.43	0.47843	0.799318804817	0.79744	0.43483806764513905	0.43400	0.26906606016	0.29422	0.616847395897	0.55284	T	0.100519	0.40640	T	0.265277	0.80014	D	0.240129	0.85152	D	0.939521193504333	0.61105	D	0.930207	0.74183	D	0.434774	0.63064	0.35814106	0.61295	0.434774	0.63065	0.35814106	0.61295	-10.488	0.76778	D	.	.	0.158	0.38818	B	.;.;.	.;.;.	4.474945	0.69770	25.4	0.99890277745731437	0.96436	0.94083	0.60061	D	AEFBI	0.471470	0.51700	N	0.636983693576377	0.75527	6.322097	0.631230612236041	0.77221	6.637501	0.999996880180609	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.45	5.45	0.79688	3.852000	0.55642	4.722000	0.44510	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.081	0.86473	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	766.43	35	chr2	236392065	.	C	T	766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.059;DP=396;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.746;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	9	0	1	0
chr2	236465527	236465527	G	A	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon6:c.C904T:p.R302W,IQCA1:NM_001270585:exon6:c.C925T:p.R309W,IQCA1:NM_024726:exon6:c.C904T:p.R302W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	.	0.0053	0.00678914	0.0017	0.0189	0.0010	0.0001	0	0.0001	0	0	0.0016882	261	154602	rs149890791	0.0006	0.0006	0.0006	0.0005	0.0184	0.0005	0.0005	0.0172	0.0167	0.0184	0.0014	0	0	0	0.0007	6.836e-05	0.0008	3.478e-05	0.0056	0.0056	0.0057	0.0054	0.0190	0.0052	0.0051	0.0179	0.0175	0.0190	0	0.0020	0	0	0	0.0102	0.0001	0.0057	0.0002	0.013	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000063	0.52346	D	0.000000	0.99974	0.48716	D	.	.	.	-3.53	0.95282	D	-5.53	0.94566	D	0.758	0.76666	0.740	0.93675	D	0.894	0.96482	D	10	0.014012247	0.00295	T	.	.	.	0.735	0.90764	.	.	0.793059094206	0.79113	0.7678092044107081	0.76729	0.43110305208	0.43331	0.442381739616	0.30902	T	0.343379	0.71203	T	-0.113737	0.34151	T	0.0787853	0.75496	D	0.0492201385559745	0.05363	T	0.970803	0.92190	D	0.7261472	0.79506	0.58131534	0.75731	0.7261472	0.79507	0.58131534	0.75732	-11.133	0.81521	D	.	.	0.351	0.61628	A	.;.;.	.;.;.	4.357996	0.66997	25.0	0.99916367465502232	0.98449	0.86013	0.45217	D	AEFBI	0.499757	0.53330	N	0.628764261996742	0.74999	6.22944	0.528662200570637	0.69926	5.430664	0.0407379934399433	0.14453	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.43	5.43	0.79006	1.991000	0.40348	7.111000	0.57566	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.306000	0.24642	0.0:0.0:0.862:0.138	15.600	0.76366	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	913.43	33	chr2	236465527	.	G	A	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.634;DP=410;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.687;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	9	0	1	0
chr2	237378986	237378986	C	T	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon4:c.G926A:p.G309D,COL6A3:NM_057165:exon5:c.G1529A:p.G510D,COL6A3:NM_057167:exon5:c.G1529A:p.G510D,COL6A3:NM_004369:exon6:c.G2147A:p.G716D	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	272678	Inborn_genetic_diseases|Bethlem_myopathy_1A|Collagen_6-related_myopathy|not_provided|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.388	0.142767451627	0.0002	0.000399361	0.0004	0	8.646e-05	0	0	2.999e-05	0	0.0024	0.0002911	45	154602	rs144514259	0.0002	0.0002	0.0001	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	2.987e-05	6.708e-05	0	0	0	0.0003	2.338e-05	0.0003	0.0022	9.849e-05	9.844e-05	5.139e-05	0.0001	0.0021	6.002e-05	4.877e-05	0.0011	0.0009	4.812e-05	0	0	0	0	9.425e-05	0	2.94e-05	0	0.0021	0.063	0.39575	T	0.063	0.45110	T	0.991	0.64070	D	0.907	0.64423	P	0.340956	0.13964	N	0.617678	1	0.08975	N	1.355	0.33814	L	-2.08	0.86010	D	-1.14	0.39692	N	0.526	0.55540	-0.3019	0.74932	T	0.620	0.86618	D	10	0.020178616	0.00461	T	0.142767	0.82513	D	0.388	0.70440	.	.	0.853917324909	0.85251	0.720430042965903	0.71986	0.711923238635	0.61746	0.46800801158	0.34407	T	0.206701	0.56612	T	-0.273333	0.11389	T	-0.171567	0.57299	T	0.0585375623938364	0.06935	T	0.889711	0.65830	D	0.09700213	0.22858	0.10164689	0.24340	0.09700213	0.22857	0.10164689	0.24339	-5.743	0.44074	T	.	.	0.153	0.36295	B	.;.;.;.;.	.;.;.;.;.	2.570918	0.33311	19.30	0.99632821243552139	0.76142	0.12719	0.17439	N	AEFDBI	0.173534	0.30062	N	-0.0427885090560121	0.39926	2.362453	-0.0722095831181166	0.36543	2.128073	0.988867040400841	0.31652	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.52	3.67	0.41236	0.813000	0.26883	1.019000	0.23391	0.599000	0.40250	0.414000	0.26282	0.808000	0.27011	0.965000	0.52897	0.3302:0.392:0.2779:0.0	7.264	0.25396	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1884.43	34	chr2	237378986	.	C	T	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.264;DP=477;ExcessHet=0;FS=5.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.45;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	9	0	1	0
chr2	237387599	237387599	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057165:exon3:c.C677T:p.P226L,COL6A3:NM_057167:exon3:c.C677T:p.P226L,COL6A3:NM_004369:exon4:c.C1295T:p.P432L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.705	0.24764600747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.84481	D	0.000238	0.47286	U	0.000000	1	0.81001	D	1.82	0.47800	L	-2.47	0.88997	D	-3.43	0.79229	D	0.699	0.74553	0.740	0.93664	D	0.806	0.93461	D	10	0.8254856	0.81731	D	0.247646	0.88977	D	0.705	0.89422	0.499	0.58991	0.945467474279	0.94489	0.6306218285824045	0.62996	0.599532769812	0.55070	0.623742938042	0.56257	T	0.496671	0.81887	T	0.389352	0.89290	D	0.321501	0.89155	D	0.990690350532532	0.80923	D	0.926207	0.76468	D	0.33064625	0.55524	0.22972591	0.48053	0.33064625	0.55524	0.22972591	0.48052	-4.556	0.34310	T	.	.	0.215	0.56118	B	.;.;.;.;.;.	.;.;.;.;.;.	4.388252	0.67704	25.1	0.99461794306977125	0.65840	0.99605	0.97912	D	AEFBHI	0.888661	0.82201	D	0.720930308788609	0.81003	7.421812	0.706332557870599	0.82860	7.872919	0.99999999981104	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	6.769000	0.74780	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.727	0.91680	933	0.16026	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	860.43	34	chr2	237387599	.	G	A	860.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.148;DP=401;ExcessHet=0;FS=6.505;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.411;SOR=1.461	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	9	0	1	0
chr2	237577288	237577288	T	C	exonic	RAB17	.	nonsynonymous SNV	RAB17:NM_022449:exon4:c.A404G:p.D135G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.581067544627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1174891800	1.368e-06	1.368e-06	2.723e-06	0	0.0004	2.3e-07	9e-08	6.206e-05	2.563e-05	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000062	0.52346	D	0.000000	1	0.81001	D	4.34	0.98424	H	-3.89	0.95984	D	-6.59	0.91998	D	0.984	0.99337	0.402	0.89124	D	0.610	0.86170	D	10	0.9921787	0.99753	D	0.581068	0.96246	D	0.938	0.98636	0.975	0.99766	0.968352648228	0.96801	0.8605340550383629	0.86017	0.495345177098	0.48073	0.513520359993	0.40715	T	0.79879	0.96342	D	0.549811	0.95797	D	0.551989	0.95735	D	0.999425530433655	0.97351	D	0.978677	0.99663	D	0.9519086	0.96460	0.8449459	0.91166	0.9519086	0.96460	0.8449459	0.91167	-12.78	0.88436	D	.	.	0.969	0.89314	P	.;.;.	.;.;.	5.130556	0.85853	28.7	0.99856051660059519	0.93458	0.99127	0.91622	D	AEFBCI	0.939060	0.93913	D	0.507866500040512	0.67554	5.097142	0.445349798571135	0.64419	4.696631	0.999999956168901	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	4.47	4.47	0.53770	7.155000	0.77033	7.268000	0.57981	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.0:0.0:1.0	10.145	0.41935	981	0.03995	Small GTP-binding protein domain;.;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	877.43	36	chr2	237577288	.	T	C	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.927;DP=401;ExcessHet=0;FS=4.129;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=1.89;SOR=0.769	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1211	9	0	1	0
chr2	237818174	237818174	A	G	exonic	RBM44	.	nonsynonymous SNV	RBM44:NM_001080504:exon3:c.A1255G:p.R419G	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0074	0.00319489	0.0074	0.0010	0.0057	0.0001	0.0107	0.0100	0.0079	0.0043	0.0073608	1138	154602	rs78856938	0.0090	0.0090	0.0091	0.0089	0.0103	0.0089	0.0088	0.0101	0.0101	0.0015	0.0055	0.0066	5.042e-05	0.0101	0.0007	0.0103	0.0073	0.0035	0.0067	0.0067	0.0073	0.0061	0.0107	0.0064	0.0062	0.0100	0.0098	0.0017	0	0.0066	0.0072	0	0.0073	0.0034	0.0107	0.0061	0.0017	0.033	0.44358	D	0.033	0.53072	D	.	.	.	.	.	.	0.557893	0.05407	N	1.207380	1	0.08975	N	.	.	.	1.64	0.27822	T	-2.74	0.58248	D	0.248	0.28028	-1.0113	0.26510	T	0.057	0.24130	T	10	0.004121512	0.00081	T	.	.	.	0.083	0.24192	.	.	0.288727942641	0.28479	0.26506181418010577	0.26419	0.0554052281764	0.06130	0.224131345749	0.01562	T	.	.	.	-0.526374	0.00404	T	-0.515903	0.20711	T	0.0254576256771325	0.01332	T	0.547445	0.18775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.16363	B	.;.	.;.	1.144477	0.15318	11.76	0.98642354910000662	0.44069	0.11084	0.16397	N	ALL	0.119406	0.23307	N	-0.417757872193886	0.24846	1.344522	-0.471467044376923	0.22944	1.248745	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.421255	0.06892	1	.	.	5.86	4.72	0.59248	2.159000	0.41965	0.812000	0.21762	0.691000	0.84096	0.006000	0.17386	0.000000	0.08366	0.044000	0.14658	0.9122:0.0:0.0878:0.0	8.325	0.31312	982	0.03397	.;.	.	.	.	.	rs78856938	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1967.43	167	chr2	237818174	.	A	G	1967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.998;DP=487;ExcessHet=0;FS=2.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=2.2;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	0	1	0
chr2	237821361	237821362	AC	-	exonic	RBM44	.	frameshift deletion	RBM44:NM_001080504:exon7:c.2113_2114del:p.H706Cfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0014	0.0006	0.0007	0	0	0.0028	0	0.0001	0.0002689	7	26028	rs529676431	0.0022	0.0023	0.0023	0.0020	0.0026	0.0021	0.0021	0.0025	0.0025	0.0004	0.0007	0	0	0.0012	0.0005	0.0026	0.0019	6.291e-05	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0002	0	0.0007	0	0	0.0010	0	0.0021	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	852.41	34	chr2	237821360	.	AAC	A	852.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.453;DP=294;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.781;SOR=0.708	GT:AD:DP:GQ:PL	0/1:24,7:31:99:218,0,967	7	0	3	0
chr2	237829503	237829503	G	A	splicing	RBM44	NM_001080504:exon13:c.2886+1G>A	.	.	.	432	1087	3	0	0	3	0.00137804	1.0000	0.74	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.693e-06	0	0	0	0	0	0	7.084e-05	6.5e-06	1	154602	rs752073129	2.064e-06	2.052e-06	1.368e-06	2.767e-06	2.356e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	0	1.669e-05	2.356e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053832	0.58835	T	-0.057507	0.66506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.937596	0.81456	27.6	0.98563371276581047	0.43012	0.88797	0.48900	D	AEFI	.	.	.	0.840581064304605	0.88565	9.626404	0.608889785560796	0.75585	6.336499	0.9460824412164	0.27690	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.057018	0.00518	0	0.942246	0.60427	4.37	4.37	0.51830	4.305000	0.58905	11.398000	0.92662	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.144000	0.20092	0.0:0.0:1.0:0.0	12.802	0.56974	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	669.43	34	chr2	237829503	.	G	A	669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.408;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1034	9	0	1	0
chr2	238131223	238131223	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G1405A:p.E469K,ESPNL:NM_194312:exon9:c.G2509A:p.E837K	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.386112467172	0.0026	0.000798722	0.0049	0.0036	0	0	0	0.0092	0	0.0024	0.0021086	326	154602	rs202227187	0.0052	0.0050	0.0053	0.0050	0.0062	0.0051	0.0050	0.0061	0.0060	0.0006	0.0011	3.969e-05	5.494e-05	0.0007	0.0016	0.0062	0.0042	0.0021	0.0025	0.0025	0.0029	0.0022	0.0047	0.0023	0.0022	0.0042	0.0041	0.0008	0.0022	0.0013	0	0	0.0003	0	0.0047	0.0024	0.0010	0.004	0.68238	D	0.004	0.74150	D	1.0	0.90584	D	0.994	0.86255	D	0.000003	0.62929	D	0.000000	0.999998	0.58761	D	2.695	0.78878	M	-1.18	0.78314	T	-2.44	0.58085	N	0.481	0.61596	0.343	0.88233	D	0.613	0.86305	D	10	0.009151846	0.00207	T	0.386112	0.93083	D	0.487	0.77528	.	.	0.695568829229	0.69294	0.5908588341447731	0.59015	0.59926212297	0.55057	0.80596268177	0.82873	D	0.178069	0.52859	T	-0.20081	0.20688	T	-0.0598591	0.66342	T	0.0175946835829227	0.00492	T	0.856014	0.55864	D	0.42831188	0.62642	0.37696317	0.62806	0.42831188	0.62642	0.37696317	0.62806	-11.478	0.82215	D	.	.	0.499	0.72553	A	.;.;.	.;.;.	5.021699	0.83459	28.0	0.99928207888240472	0.99222	0.95717	0.65855	D	AEFDBCI	0.857632	0.77503	D	0.670199087684856	0.77681	6.721703	0.613668558625006	0.75933	6.398788	0.999999999999431	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.72	4.72	0.59248	3.712000	0.54603	11.356000	0.92581	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:1.0:0.0	16.476	0.83976	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002058	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1071.43	92	chr2	238131223	.	G	A	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=732;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-1.964;SOR=0.752	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	9	0	1	0
chr2	238140834	238140834	G	A	exonic	KLHL30	.	nonsynonymous SNV	KLHL30:NM_198582:exon2:c.G80A:p.R27H	.	427	1094	1	0	0	1	0.00045683	.	.	.	4156026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.726	0.113158947098	0.0002	.	4.797e-05	0	0	0	0	3.504e-05	0	0.0002	3.23e-05	5	154602	rs367910560	5.013e-05	5.062e-05	4.094e-05	5.942e-05	0.0014	4.074e-05	3.748e-05	0.0007	0.0005	0	4.496e-05	0	2.527e-05	0	0.0014	4.239e-05	3.327e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.008	0.58626	D	0.127	0.35082	T	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.052440	0.999961	0.52935	D	3.295	0.90403	M	-0.72	0.72994	T	-3.74	0.71042	D	0.585	0.60579	0.408	0.89223	D	0.630	0.87021	D	10	0.85973895	0.85188	D	0.113159	0.79156	D	0.726	0.90369	.	.	0.883310691925	0.88216	0.6029013696753504	0.60221	0.740695350746	0.63242	0.396209985018	0.24541	T	0.619886	0.88070	D	-0.0464378	0.44986	T	-0.044802	0.67377	D	0.928047776222229	0.59126	D	0.949705	0.80662	D	0.59974724	0.72678	0.6726996	0.80790	0.59974724	0.72679	0.6726996	0.80791	-9.463	0.70629	D	.	.	0.171	0.37596	B	.	.	5.079483	0.84758	28.4	0.9995455341480195	0.99969	0.99192	0.92589	D	AEFBI	0.927459	0.91014	D	0.972067258802171	0.94820	13.06705	0.903943377552301	0.95741	13.92146	1.0	0.98316	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	5.75	0.90390	9.894000	0.98600	9.655000	0.81180	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:1.0:0.0	18.713	0.91628	969	0.06854	BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	995.43	34	chr2	238140834	.	G	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=397;ExcessHet=0;FS=1.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.25;SOR=1.009	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1247	9	0	1	0
chr2	238250647	238250647	C	T	exonic	PER2	.	nonsynonymous SNV	PER2:NM_022817:exon21:c.G3371A:p.S1124N	Advanced sleep phase syndrome, familial, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00610822403344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.571	0.08777	T	0.005	0.12996	B	0.011	0.15521	B	0.011634	0.29459	N	0.426017	1	0.08975	N	1.48	0.37141	L	2.54	0.13916	T	-0.72	0.20358	N	0.138	0.13626	-0.9943	0.31485	T	0.025	0.10910	T	10	0.05125618	0.04978	T	0.006108	0.15993	T	0.013	0.01715	0.246	0.18139	0.226560886239	0.22246	0.13196455952671488	0.13121	0.218113596429	0.24345	0.278576016426	0.07295	T	0.056371	0.30269	T	-0.353524	0.04510	T	-0.745589	0.03661	T	0.106642499566078	0.13072	T	0.719828	0.33277	T	0.1825035	0.39472	0.12324934	0.29721	0.1825035	0.39472	0.12324934	0.29720	-3.093	0.11216	T	.	.	0.075	0.05317	B	.	.	0.569553	0.09383	6.161	0.76394542658444531	0.11450	0.32210	0.24529	N	AEFBCI	0.166953	0.29358	N	-0.868524319008705	0.11597	0.5605078	-0.888586244243694	0.12363	0.6355526	0.996883407970987	0.35088	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.62	2.78	0.31702	1.165000	0.31432	1.648000	0.27829	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.055000	0.15596	0.0:0.7574:0.1543:0.0884	8.439	0.31965	830	0.39242	Period circadian-like, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1308.43	103	chr2	238250647	.	C	T	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.116;DP=417;ExcessHet=0;FS=11.337;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.805;SOR=1.595	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1181	9	0	1	0
chr2	238397532	238397532	C	T	exonic	TRAF3IP1	.	nonsynonymous SNV	TRAF3IP1:NM_001139490:exon14:c.C1565T:p.T522M,TRAF3IP1:NM_015650:exon16:c.C1763T:p.T588M	Senior-Loken syndrome 9, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	1446532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00550075176858	7.7e-05	.	4.158e-05	0	0	0	0	6.073e-05	0.0011	0	3.23e-05	5	154602	rs201946956	1.506e-05	1.505e-05	1.498e-05	1.514e-05	2.236e-05	9.86e-06	8.42e-06	9.31e-06	7.61e-06	0	2.236e-05	0	0	0	0	1.529e-05	4.97e-05	1.159e-05	3.942e-05	3.939e-05	2.569e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	5.285e-05	2.835e-05	0	0	0.0002	0	0	0	0	4.41e-05	0	0	0.135	0.26300	T	0.155	0.39340	T	0.006	0.13644	B	0.008	0.18140	B	0.266286	0.03743	N	1.418460	1	0.08975	N	0.235	0.09667	N	2.49	0.14531	T	-1.45	0.37178	N	0.146	0.14763	-0.9888	0.32903	T	0.027	0.11397	T	10	0.044859022	0.03490	T	0.005501	0.14166	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.048487495611515594	0.04791	0.149189735459	0.16824	0.229654207826	0.01942	T	0.015124	0.12745	T	-0.418879	0.01739	T	-0.683101	0.06796	T	0.0396870671864266	0.03633	T	0.709529	0.32034	T	0.021100251	0.00696	0.060125764	0.11399	0.021100251	0.00695	0.060125764	0.11398	-5.729	0.43950	T	0.1863818826017564	0.24257	0.066	0.02257	B	.;.	.;.	-0.491867	0.01894	0.156	0.94826817884466685	0.25603	0.02216	0.06453	N	AEFDBI	0.046825	0.07819	N	-1.3423563273065	0.03204	0.1427647	-1.41759399438035	0.03076	0.1427848	0.999333977633194	0.39185	0.706298	0.61202	0	0.670034	0.63936	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.36	-7.15	0.01369	-2.518000	0.01029	-3.981000	0.02413	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.079000	0.17189	0.0838:0.612:0.1713:0.133	9.773	0.39771	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2576.43	34	chr2	238397532	.	C	T	2576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.356;DP=508;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-1.14;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	9	0	1	0
chr2	240011654	240011654	C	T	exonic	NDUFA10	.	nonsynonymous SNV	NDUFA10:NM_001322019:exon6:c.G712A:p.E238K,NDUFA10:NM_001322020:exon6:c.G712A:p.E238K,NDUFA10:NM_004544:exon6:c.G712A:p.E238K	Leigh syndrome, Autosomal recessive, Mitochondrial	0	1488	33	1	0	35	0.011624	.	.	.	142140	Leigh_syndrome|Mitochondrial_complex_I_deficiency,_nuclear_type_1|Mitochondrial_complex_1_deficiency,_nuclear_type_22|not_specified|not_provided	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010|MONDO:MONDO:0032626,MedGen:C4748796,OMIM:618243|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.944	.	0.0054	0.00279553	0.0054	0.0002	0.0090	0.0001	0.0009	0.0070	0.0055	0.0039	0.0055562	859	154602	rs35462421	0.0064	0.0065	0.0064	0.0064	0.0089	0.0063	0.0063	0.0082	0.0079	0.0007	0.0089	0.0049	2.519e-05	0.0013	0.0078	0.0071	0.0075	0.0042	0.0057	0.0057	0.0061	0.0053	0.0094	0.0054	0.0053	0.0084	0.0081	0.0013	0	0.0094	0.0046	0	0.0003	0.0068	0.0090	0.0085	0.0046	0.004	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.255	0.89877	M	-4.65	0.97938	D	-3.44	0.71997	D	0.85	0.85132	0.909	0.95808	D	0.939	0.97992	D	10	0.015003979	0.00339	T	.	.	.	0.944	0.98851	.	.	0.998418483434	0.99840	0.686272988779664	0.68567	0.675064112378	0.59680	0.497707843781	0.38508	T	0.635256	0.88747	D	0.201883	0.74068	D	0.524463	0.95107	D	0.0317793008590996	0.02271	T	.	.	.	0.8467275	0.87094	0.7498531	0.85214	0.8685694	0.88750	0.7033316	0.82516	-11.085	0.80122	D	0.7238999482498457	0.80517	0.933	0.85307	P	.;.;.;.;.;.	.;.;.;.;.;.	5.074703	0.84663	28.4	0.99931280116912635	0.99387	0.95946	0.66841	D	AEFDBCI	0.680303	0.64404	D	0.777496287506538	0.84680	8.355947	0.687277347417095	0.81413	7.520644	0.999999990447188	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	6.516000	0.73665	7.141000	0.57652	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	14.478	0.67141	970	0.06235	.;Deoxynucleoside kinase domain;Deoxynucleoside kinase domain;Deoxynucleoside kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.020202	0.008152	0.005848	0.050000	0.008621	0.015244	0.011364	0.05	962.43	33	chr2	240011654	.	C	T	962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.614;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.227;SOR=0.743	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1175	9	0	1	0
chr2	240740088	240740088	G	A	exonic	KIF1A	.	nonsynonymous SNV	KIF1A:NM_001379636:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379637:exon35:c.C3643T:p.R1215C,KIF1A:NM_001379639:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379640:exon35:c.C3565T:p.R1189C,KIF1A:NM_001379641:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379648:exon35:c.C3643T:p.R1215C,KIF1A:NM_001379649:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379650:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379651:exon35:c.C3568T:p.R1190C,KIF1A:NM_001379653:exon35:c.C3568T:p.R1190C,KIF1A:NM_004321:exon35:c.C3568T:p.R1190C,KIF1A:NM_001320705:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330289:exon36:c.C3595T:p.R1199C,KIF1A:NM_001330290:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379632:exon36:c.C3820T:p.R1274C,KIF1A:NM_001379633:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379634:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379635:exon36:c.C3670T:p.R1224C,KIF1A:NM_001379638:exon36:c.C3595T:p.R1199C,KIF1A:NM_001379642:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379645:exon36:c.C3844T:p.R1282C,KIF1A:NM_001379646:exon36:c.C3670T:p.R1224C,KIF1A:NM_001244008:exon37:c.C3871T:p.R1291C,KIF1A:NM_001379631:exon37:c.C3946T:p.R1316C	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	691098	not_specified|not_provided|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|Hereditary_spastic_paraplegia_30|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.418	0.284465629828	7.9e-05	0.000399361	0.0004	0	0	0.0042	0	9.539e-05	0.0031	0.0003	0.0001617	25	154602	rs199998986	9.601e-05	0.0001	8.968e-05	0.0001	0.0015	8.273e-05	7.781e-05	0.0012	0.0011	9.155e-05	9.642e-05	0	0.0015	1.956e-05	0.0002	4.18e-05	0.0001	0.0002	0.0001	0.0001	6.426e-05	0.0002	0.0019	7.573e-05	6.278e-05	0.0010	0.0008	9.632e-05	0	0.0001	0	0.0019	0	0	1.47e-05	0	0.0002	0.014	0.55530	D	0.049	0.48594	D	0.999	0.77913	D	0.873	0.61978	P	0.000786	0.41772	U	0.188876	0.999877	0.50225	D	1.04	0.26193	L	-0.67	0.73205	T	-4.61	0.79571	D	0.639	0.67477	-0.3224	0.74355	T	0.330	0.69800	T	10	0.027278662	0.00876	T	0.284466	0.90347	D	0.418	0.72780	.	.	0.629592633289	0.62656	0.48745250817772223	0.48665	1.27794266167	0.82456	0.359657585621	0.19336	T	0.62244	0.88185	D	-0.278616	0.10815	T	-0.186219	0.55943	T	0.151289409942196	0.17206	T	0.977402	0.92063	D	0.19197898	0.40848	0.16768439	0.38671	0.19197898	0.40847	0.16768439	0.38670	-6.687	0.51712	T	.	.	0.082	0.23986	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.506354	0.91640	32	0.9992230062637022	0.98852	0.79787	0.39606	D	AEFDBCI	0.761754	0.69937	D	0.345426425753767	0.58498	4.022457	0.366773025040954	0.59526	4.131017	0.994677149643568	0.33747	0.67177	0.52595	0	0.541168	0.11318	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	4.28	4.28	0.50183	3.731000	0.54739	11.537000	0.93115	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.8259:0.1741	11.921	0.52076	994	0.00715	Kinesin-like;.;.;.;.;.;.;Kinesin-like;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1911.43	37	chr2	240740088	.	G	A	1911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.681;DP=515;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.264;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	9	0	1	0
chr2	240869336	240869336	G	A	exonic	AGXT	.	nonsynonymous SNV	AGXT:NM_000030:exon2:c.G332A:p.R111Q	Hyperoxaluria, primary, type 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	200472	Primary_hyperoxaluria,_type_I|not_provided	MONDO:MONDO:0009823,MedGen:C0268164,OMIM:259900,Orphanet:416,Orphanet:93598|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.954	0.903926951278	7.7e-05	.	3.466e-05	0	0	0	0	3.094e-05	0	0.0002	2.59e-05	4	154602	rs180177203	2.201e-05	2.189e-05	2.596e-05	1.8e-05	0.0003	1.593e-05	1.363e-05	6.303e-05	4.798e-05	0	0	0	0	1.907e-05	0.0003	1.716e-05	0	0.0001	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.25	0.98048	H	-3.42	0.94348	D	-3.81	0.71882	D	0.984	0.99337	1.108	0.99852	D	0.941	0.98074	D	10	0.98729414	0.99087	D	0.903927	0.99279	D	0.954	0.99189	.	.	0.964948117445	0.96457	0.9680569701085651	0.96793	0.263199542763	0.28875	0.497315853834	0.38454	T	0.891317	0.97795	D	0.385047	0.89031	D	0.520823	0.95009	D	0.992587268352509	0.83102	D	0.956971	0.83666	D	0.92776644	0.94013	0.82952845	0.90154	0.92776644	0.94014	0.82952845	0.90154	-11.323	0.81399	D	0.8248429900178341	0.89703	0.442	0.61827	A	.	.	5.261481	0.88341	29.6	0.99955185936666069	0.99969	0.98781	0.86770	D	AEFBI	0.958616	0.97849	D	0.848130492506997	0.89002	9.795716	0.684633239185617	0.81211	7.474165	0.999999999998865	0.74766	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.12	4.12	0.47504	9.213000	0.94240	9.438000	0.80821	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.0:0.0:1.0:0.0	16.738	0.85311	982	0.03397	Aminotransferase class V domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	781.43	34	chr2	240869336	.	G	A	781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.997;DP=392;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.041;SOR=0.393	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1286	9	0	1	0
chr2	240934338	240934338	C	G	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon12:c.C1654G:p.R552G	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00738818	0.0015	0.0212	0.0035	0	0	0.0002	0	0	0.0005757	89	154602	rs141564189	0.0007	0.0007	0.0008	0.0006	0.0253	0.0007	0.0007	0.0238	0.0232	0.0253	0.0015	0	0	0	0.0022	3.615e-05	0.0017	7.583e-05	0.0067	0.0067	0.0072	0.0062	0.0228	0.0064	0.0062	0.0216	0.0211	0.0228	0	0.0032	0	0	0	0	0.0001	0.0066	0	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.37613	-1.0172	0.24625	T	0.042	0.17869	T	5	0.004887879	0.00104	T	.	.	.	.	.	.	.	0.388970301349	0.38507	0.0706335361650638	0.07000	.	.	.	.	.	0.024569	0.18538	T	-0.539977	0.00335	T	-0.528819	0.19404	T	0.00978569450253716	0.00129	T	.	.	.	0.1669232	0.37058	0.19602239	0.43311	0.1669232	0.37057	0.19602239	0.43310	-7.873	0.60201	D	.	.	0.166	0.36633	B	.	.	3.545676	0.49816	22.8	0.99481528005632114	0.66904	0.04807	0.10528	N	AEFDBI	0.111228	0.22029	N	-0.210406427757895	0.32706	1.847436	-0.268263925983629	0.29151	1.630896	0.566753638158859	0.21459	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	4.29	2.22	0.27116	-0.101000	0.10943	3.056000	0.36140	0.549000	0.26987	0.000000	0.06391	0.139000	0.23074	0.561000	0.30436	0.174:0.5722:0.1499:0.1038	3.702	0.07916	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	656.43	35	chr2	240934338	.	C	G	656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.332;DP=386;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=1.64;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	9	0	1	0
chr2	240935551	240935551	G	A	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon14:c.G2132A:p.G711E	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00758786	0.0070	0.0479	0	0	0	0	0	0	0.0006015	93	154602	rs187987650	0.0007	0.0007	0.0008	0.0007	0.0291	0.0007	0.0007	0.0273	0.0266	0.0291	0.0024	0	0	0	0.0025	3.054e-05	0.0022	8.034e-05	0.0079	0.0079	0.0083	0.0074	0.0271	0.0075	0.0074	0.0258	0.0252	0.0271	0	0.0033	0	0	0	0	0.0001	0.0076	0	.	.	.	0.948	0.02632	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.01274	-0.9231	0.45126	T	0.067	0.27434	T	6	0.0032262504	0.00055	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.06367682268523439	0.06306	.	.	.	.	.	0.011	0.09944	T	-0.576538	0.00202	T	-0.579303	0.14607	T	0.00425357990189368	0.00045	T	.	.	.	0.07220167	0.16044	0.12166434	0.29353	0.07220167	0.16043	0.12166434	0.29353	-5.473	0.41615	T	.	.	0.103	0.18580	B	.	.	0.060242	0.04712	1.349	0.62452192584207422	0.06966	0.01418	0.04786	N	AEFDBI	0.041142	0.06216	N	-1.07567293225804	0.07093	0.3285216	-1.23648199386384	0.05335	0.2539085	0.640797087268103	0.22052	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.07	-2.8	0.05477	-0.284000	0.08456	-0.894000	0.07016	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4435:0.0:0.5565:0.0	11.197	0.47949	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	515.43	42	chr2	240935551	.	G	A	515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.235;DP=356;ExcessHet=0;FS=1.576;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.18;ReadPosRankSum=-0.043;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1217:.	9	0	1	0
chr2	240965889	240965889	C	T	exonic	CROCC2	.	nonsynonymous SNV	CROCC2:NM_001351305:exon24:c.C3857T:p.A1286V	.	416	1060	43	3	0	49	0.0225911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	.	.	.	.	.	.	.	.	0.0002587	40	154602	rs578065848	0.0009	0.0008	0.0007	0.0011	0.0129	0.0008	0.0008	0.0104	0.0095	0.0002	0.0016	0.0041	3.042e-05	0	0.0129	0.0004	0.0020	0.0080	0.0008	0.0008	0.0008	0.0008	0.0070	0.0007	0.0007	0.0052	0.0045	0.0001	0	0.0014	0.0037	0	0	0.0068	0.0006	0.0043	0.0070	.	.	.	0.06	0.45744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.12913	.	.	.	.	.	.	.	0.004706025	0.00099	T	.	.	.	.	.	.	.	0.234412748748	0.23057	0.1971725146787522	0.19634	.	.	.	.	.	0.008267	0.07601	T	-0.650471	0.00072	T	-0.840068	0.01098	T	.	.	.	.	.	.	0.023476645	0.01090	0.065842256	0.13404	0.023476645	0.01090	0.065842256	0.13403	-4.725	0.33705	T	.	.	0.113	0.22208	B	.	.	0.300233	0.06761	3.275	0.6908852732698425	0.08861	0.01708	0.05424	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999941590451895	0.47345	0.084033	0.02218	0	0.050367	0.00097	1	0.074216	0.02223	0	0.079188	0.02158	0	0.277069	0.33944	4.32	0.362	0.15348	-0.421000	0.07118	-1.248000	0.05914	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3965:0.0:0.6035	7.433	0.26309	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	319.43	46	chr2	240965889	.	C	T	319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=0.176;SOR=0.741	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,106,1092	9	0	1	0
chr2	241051747	241051747	G	A	exonic	SNED1	.	nonsynonymous SNV	SNED1:NM_001080437:exon13:c.G1739A:p.R580Q	.	.	.	.	.	.	.	.	.	.	.	3474629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.369	0.317184100735	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1026206217	7.402e-06	1.368e-05	5.804e-06	9.067e-06	3.441e-05	3.74e-06	2.73e-06	2.04e-06	1.34e-06	3.308e-05	3.441e-05	0	2.823e-05	0	0	5.681e-06	1.789e-05	0	3.286e-05	3.283e-05	3.855e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	4.74e-05	3.054e-05	0.0001	0	0	0	0	0	0	0	0	0	0.511	0.07473	T	0.09	0.40267	T	0.51	0.37313	P	0.037	0.23121	B	0.000151	0.49130	D	0.000000	0.971147	0.38849	D	1.905	0.50856	L	-3.44	0.94428	D	-1.06	0.33798	N	0.189	0.20660	0.118	0.84503	D	0.658	0.88125	D	10	0.2066932	0.36939	T	0.317184	0.91364	D	0.369	0.68844	0.382	0.39970	0.512421693248	0.50881	0.7027420167729547	0.70215	0.484744405385	0.47379	0.443802177906	0.31097	T	0.026135	0.19403	T	0.0530095	0.58730	T	-0.161632	0.58204	T	0.163191571831703	0.18104	T	0.734027	0.35731	T	0.046290733	0.07724	0.0448592	0.05907	0.046290733	0.07723	0.0448592	0.05907	-10.515	0.77778	D	.	.	0.098	0.16407	B	.;.;.	.;.;.	3.817660	0.55106	23.6	0.99645106835534314	0.76943	0.85419	0.44550	D	AEFBI	0.574663	0.57736	D	-0.0771070116963459	0.38398	2.248326	-0.00221938387653084	0.39616	2.351576	0.961585155076134	0.28564	0.651	0.46895	0	0.588066	0.40923	0	0.578056	0.29568	0	0.683762	0.67416	0	.	.	3.9	3.9	0.44240	3.467000	0.52842	2.749000	0.34521	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.1884:0.0:0.8116:0.0	8.402	0.31751	974	0.05496	.;.;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	690.43	37	chr2	241051747	.	G	A	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.255;DP=373;ExcessHet=0;FS=4.411;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=1.11;SOR=0.235	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	9	0	1	0
chr2	241096064	241096078	GTCATCCTCATCATT	-	exonic	MTERF4	.	nonframeshift deletion	MTERF4:NM_001330179:exon3:c.502_516del:p.N168_D172del,MTERF4:NM_182501:exon4:c.1066_1080del:p.N356_D360del	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0159	.	0.0011	0.0035	8.648e-05	0.0001	0	0.0002	0.0011	0.0047	0.0008344	129	154602	rs745932546	0.0006	0.0006	0.0005	0.0007	0.0053	0.0005	0.0005	0.0049	0.0048	0.0040	0.0002	0	5.04e-05	3.744e-05	0.0014	0.0002	0.0008	0.0053	0.0012	0.0012	0.0012	0.0012	0.0060	0.0011	0.0010	0.0043	0.0037	0.0035	0	0.0003	0	0	0	0	0.0001	0.0014	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1746.39	127	chr2	241096063	.	CGTCATCCTCATCATT	C	1746.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=454;ExcessHet=0;FS=1.493;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=0.857;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	9	0	1	0
chr2	241137162	241137162	C	T	exonic	PASK	.	nonsynonymous SNV	PASK:NM_001252119:exon7:c.G979A:p.G327S,PASK:NM_001252122:exon7:c.G874A:p.G292S,PASK:NM_001252124:exon7:c.G979A:p.G327S,PASK:NM_015148:exon7:c.G979A:p.G327S,PASK:NM_001252120:exon8:c.G979A:p.G327S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00547736771046	.	.	8.249e-06	0	8.648e-05	0	0	0	0	0	6.5e-06	1	154602	rs748350976	5.477e-06	6.157e-06	5.45e-06	5.504e-06	2.236e-05	2.36e-06	1.7e-06	8.4e-07	5.7e-07	0	2.236e-05	0	0	1.878e-05	0	3.6e-06	1.657e-05	1.16e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.359	0.13789	T	0.994	0.02365	T	0.002	0.09854	B	0.002	0.08700	B	0.953409	0.08272	N	0.974058	1	0.08975	N	0.22	0.09567	N	-0.35	0.68616	T	-1.58	0.42575	N	0.136	0.15187	-1.0323	0.19713	T	0.087	0.33830	T	10	0.06976211	0.10056	T	0.005477	0.14106	T	0.125	0.34456	0.274	0.22528	0.666654704183	0.66384	0.21531008252072065	0.21447	0.116427427619	0.13130	0.290299355984	0.08965	T	0.038727	0.24941	T	-0.195485	0.21457	T	-0.435712	0.29290	T	0.0529550490403445	0.06011	T	0.480052	0.14488	T	0.034236867	0.03804	0.030390615	0.01488	0.034236867	0.03803	0.030390615	0.01488	-6.238	0.48229	T	.	.	0.077	0.09578	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.059070	0.03892	0.852	0.59149910504802483	0.06157	0.01098	0.04032	N	AEFBI	0.040271	0.05968	N	-1.78835926763882	0.00574	0.02473498	-1.77787063715906	0.00833	0.03718882	0.923808479059111	0.26756	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.07	-3.3	0.04692	-0.934000	0.04063	-3.547000	0.02705	-2.448000	0.00281	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1139:0.4783:0.1122:0.2956	2.829	0.05157	994	0.00715	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2305.43	36	chr2	241137162	.	C	T	2305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.914;DP=506;ExcessHet=0;FS=2.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.269;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1300	9	0	1	0
chr2	241236665	241236665	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2755G:p.I919V,HDLBP:NM_001320965:exon21:c.A2854G:p.I952V,HDLBP:NM_001320966:exon21:c.A2854G:p.I952V,HDLBP:NM_001320967:exon21:c.A2854G:p.I952V,HDLBP:NM_005336:exon21:c.A2854G:p.I952V,HDLBP:NM_203346:exon21:c.A2854G:p.I952V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00908671794123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.989	0.02371	T	.	.	.	.	.	.	0.616103	0.05729	N	1.183550	1	0.08975	N	.	.	.	1.68	0.27184	T	0.04	0.06488	N	0.045	0.03613	-1.0616	0.11361	T	0.013	0.05225	T	10	0.025557488	0.00746	T	0.009087	0.23917	T	0.053	0.14996	0.254	0.19378	0.232442253697	0.22838	0.16049257943676634	0.15970	0.581782344896	0.53962	0.378277122974	0.22011	T	.	.	.	-0.266704	0.12126	T	-0.620878	0.11116	T	0.0290275016992813	0.01841	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.01161	B	.;.;.;.	.;.;.;.	-0.671161	0.01388	0.080	0.3619766412679532	0.02315	0.51994	0.29026	D	AEFBHCI	0.155715	0.28095	N	-1.69867640525059	0.00846	0.03661338	-1.67706388162886	0.01242	0.05597198	0.999999997852055	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	-11.4	0.00070	-0.112000	0.10762	-3.870000	0.02483	-0.133000	0.13014	0.723000	0.28851	0.000000	0.08366	0.939000	0.47918	0.2642:0.3554:0.1802:0.2002	1.843	0.02962	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	214.43	146	chr2	241236665	.	T	C	214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.417;DP=911;ExcessHet=0;FS=80.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-0.319;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1303:.	9	0	1	0
chr2	241236668	241236668	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2752G:p.I918V,HDLBP:NM_001320965:exon21:c.A2851G:p.I951V,HDLBP:NM_001320966:exon21:c.A2851G:p.I951V,HDLBP:NM_001320967:exon21:c.A2851G:p.I951V,HDLBP:NM_005336:exon21:c.A2851G:p.I951V,HDLBP:NM_203346:exon21:c.A2851G:p.I951V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0178532886134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.27783	T	0.053	0.47336	T	.	.	.	.	.	.	0.000000	0.84330	N	0.047041	1	0.81001	D	.	.	.	1.75	0.26152	T	-0.79	0.21860	N	0.571	0.60410	-0.9863	0.33518	T	0.138	0.45508	T	10	0.4313547	0.57511	T	0.017853	0.39707	T	0.136	0.36778	0.604	0.73586	0.102598925029	0.09809	0.5707151157732244	0.56999	1.41316520035	0.85479	0.744052290916	0.73568	T	.	.	.	-0.134706	0.30738	T	-0.431273	0.29791	T	0.911651909351349	0.56729	D	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.58646	B	.;.;.;.	.;.;.;.	3.797468	0.54692	23.5	0.99854856080392396	0.93368	0.97069	0.72509	D	AEFBHCI	0.910516	0.86853	D	0.50443120992409	0.67350	5.070105	0.493763495683185	0.67576	5.10254	0.99999987350005	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	4.54	0.55220	7.605000	0.82070	4.997000	0.46569	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0702:0.0:0.9298	11.443	0.49349	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	203.05	146	chr2	241236668	.	T	C	203.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.161;DP=1085;ExcessHet=0;FS=157.333;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=-0.125;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:144,0:144:0:.:.:0,0,2828:.	8	0	1	1
chr2	241236671	241236671	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2749G:p.I917V,HDLBP:NM_001320965:exon21:c.A2848G:p.I950V,HDLBP:NM_001320966:exon21:c.A2848G:p.I950V,HDLBP:NM_001320967:exon21:c.A2848G:p.I950V,HDLBP:NM_005336:exon21:c.A2848G:p.I950V,HDLBP:NM_203346:exon21:c.A2848G:p.I950V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00708499722395	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.10945	T	0.588	0.08273	T	.	.	.	.	.	.	0.000003	0.62929	D	0.103999	0.999869	0.50061	D	.	.	.	1.64	0.27822	T	-0.27	0.11366	N	0.081	0.06059	-1.0791	0.07524	T	0.060	0.25018	T	10	0.13013917	0.24765	T	0.007085	0.18759	T	0.104	0.29647	0.473	0.54859	0.0675242888579	0.06100	0.1899094645372865	0.18908	0.593740435929	0.54712	0.623579800129	0.56235	T	.	.	.	-0.189155	0.22383	T	-0.509484	0.21368	T	0.594890356063843	0.36198	D	0.852615	0.53799	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01934	B	.;.;.;.	.;.;.;.	2.687292	0.35067	19.80	0.98643433493941868	0.44082	0.90408	0.51560	D	AEFBHCI	0.629641	0.61128	D	-0.121948295283556	0.36437	2.106196	0.0950216894630602	0.44297	2.714263	0.999999976924614	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	5.729000	0.68186	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.945	0.79573	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	203.05	146	chr2	241236671	.	T	C	203.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.371;DP=1010;ExcessHet=0;FS=79.49;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=-0.312;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:116,0:116:0:.:.:0,0,1988:.	8	0	1	1
chr2	241236672	241236672	G	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.C2748G:p.D916E,HDLBP:NM_001320965:exon21:c.C2847G:p.D949E,HDLBP:NM_001320966:exon21:c.C2847G:p.D949E,HDLBP:NM_001320967:exon21:c.C2847G:p.D949E,HDLBP:NM_005336:exon21:c.C2847G:p.D949E,HDLBP:NM_203346:exon21:c.C2847G:p.D949E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0822441656851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.016	0.60972	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.56	0.29602	T	-3.27	0.65512	D	0.76	0.77507	-0.1396	0.79174	T	0.434	0.77452	T	10	0.89146185	0.88489	D	0.082244	0.73858	D	0.348	0.66956	0.815	0.92992	0.467483910872	0.46373	0.8190434292431718	0.81861	1.67419762745	0.89902	0.81989210844	0.85012	D	.	.	.	0.0275763	0.55399	T	-0.198165	0.54820	T	0.991651833057404	0.81979	D	0.941306	0.78096	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	0.89987	P	.;.;.;.	.;.;.;.	3.829636	0.55346	23.6	0.99691110531254679	0.79909	0.94102	0.60118	D	AEFBHCI	0.554333	0.56522	D	0.268696997384686	0.54569	3.622186	0.256869466793503	0.53040	3.475147	0.999987335187779	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	3.9	0.44240	0.785000	0.26491	3.455000	0.38473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.231:0.0:0.769:0.0	10.089	0.41607	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	261.05	146	chr2	241236672	.	G	C	261.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-5.091;DP=970;ExcessHet=0;FS=147.996;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=-1.241;SOR=7.053	GT:AD:DP:GQ:PL	./.:116,0:116:0:0,0,1988	8	0	1	1
chr2	241236673	241236673	T	C	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon21:c.A2747G:p.D916G,HDLBP:NM_001320965:exon21:c.A2846G:p.D949G,HDLBP:NM_001320966:exon21:c.A2846G:p.D949G,HDLBP:NM_001320967:exon21:c.A2846G:p.D949G,HDLBP:NM_005336:exon21:c.A2846G:p.D949G,HDLBP:NM_203346:exon21:c.A2846G:p.D949G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682	0.130936386399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.012	0.63918	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.49	0.31470	T	-5.46	0.85541	D	0.865	0.87917	0.282	0.87276	D	0.552	0.83616	D	10	0.9287051	0.92214	D	0.130936	0.81314	D	0.682	0.88348	0.8	0.91946	0.549031958697	0.54559	0.9010806488790254	0.90080	1.97621803285	0.93600	0.802616894245	0.82362	T	.	.	.	0.283332	0.81600	D	0.16921	0.81363	D	0.995734512805939	0.87972	D	0.967253	0.88140	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	0.89824	P	.;.;.;.	.;.;.;.	5.030743	0.83670	28.1	0.99881742751409119	0.95733	0.97792	0.77167	D	AEFBHCI	0.911618	0.87114	D	0.591434380371329	0.72640	5.83759	0.618594934155283	0.76289	6.463919	0.999999999997242	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.69	5.69	0.88346	7.567000	0.81378	7.858000	0.71298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	15.945	0.79573	994	0.00715	K Homology domain, type 1|K Homology domain;.;K Homology domain, type 1|K Homology domain;K Homology domain, type 1|K Homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	202.43	146	chr2	241236673	.	T	C	202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.521;DP=897;ExcessHet=0;FS=79.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=-0.351;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr2	241267626	241267626	C	T	exonic	HDLBP	.	nonsynonymous SNV	HDLBP:NM_001243900:exon3:c.G23A:p.R8H	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0153767647022	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs569372914	0.0006	0.0005	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	6.33e-05	0.0004	0	2.799e-05	0	0.0005	0.0007	0.0004	3.786e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0006	0.0005	4.824e-05	0	0.0001	0	0	0	0.0032	0.0007	0	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.14	0.19450	T	-0.01	0.07155	N	0.086	0.06322	-1.0338	0.19236	T	0.058	0.24242	T	6	0.04982969	0.04627	T	0.015377	0.36078	T	0.008	0.00669	0.241	0.17371	0.123314135267	0.11883	.	.	.	.	.	.	.	.	.	.	-0.536996	0.00349	T	-0.584667	0.14132	T	0.0956665725383097	0.11873	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.43393	B	.	.	0.173410	0.05618	2.073	0.26402142535221607	0.01263	0.05101	0.10902	N	AEFDBCI	0.065926	0.12884	N	-0.7237220303041	0.15357	0.7731836	-0.905164815621816	0.11972	0.6131534	0.999064541255495	0.38343	0.372202	0.05800	0	0.573116	0.20632	0	0.633826	0.45126	0	0.491896	0.07777	0	.	.	2.56	1.69	0.23290	-0.739000	0.04971	-1.235000	0.05949	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7295:0.2705:0.0	7.443	0.26368	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	884.43	80	chr2	241267626	.	C	T	884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.172;DP=456;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.116;SOR=0.843	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr2	241373241	241373241	A	G	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_001282983:exon2:c.A134G:p.H45R,FARP2:NM_001282984:exon2:c.A134G:p.H45R,FARP2:NM_014808:exon2:c.A134G:p.H45R	.	427	1047	45	3	0	51	0.0237762	.	.	.	719777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.174	.	0.0007	0.00359425	0.0034	9.697e-05	0.0009	0.0001	0.0002	0.0013	0.0101	0.0202	0.0028913	447	154602	rs150312458	0.0015	0.0016	0.0010	0.0021	0.0190	0.0015	0.0015	0.0182	0.0179	6.429e-05	0.0006	0.0040	2.674e-05	3.818e-05	0.0100	0.0003	0.0020	0.0190	0.0013	0.0013	0.0010	0.0016	0.0197	0.0011	0.0011	0.0165	0.0153	0.0001	0	0.0007	0.0046	0	0.0002	0.0068	0.0007	0.0047	0.0197	0.316	0.13744	T	0.476	0.13832	T	0.001	0.07471	B	0.001	0.06944	B	0.854686	0.08938	N	0.936529	1	0.08975	N	0.935	0.23595	L	-0.8	0.87591	T	-1.46	0.49684	N	0.218	0.24385	-0.7772	0.56459	T	0.334	0.70101	T	10	0.004382789	0.00089	T	.	.	.	0.174	0.44019	.	.	0.508223314113	0.50461	0.17052013720467224	0.16972	0.0643189233085	0.07168	0.276633054018	0.07027	T	0.053007	0.29322	T	-0.345805	0.04996	T	-0.254565	0.49365	T	0.00849698532556017	0.00103	T	0.549445	0.19458	T	0.025778024	0.01554	0.043584656	0.05456	0.025778024	0.01554	0.043584656	0.05456	-2.43	0.05320	T	.	.	0.073	0.05188	B	.;.;.;.;.	.;.;.;.;.	-0.258881	0.02802	0.385	0.72898659313836633	0.10135	0.07713	0.13715	N	AEFGBHCI	0.092076	0.18644	N	-1.23713783796239	0.04472	0.2018995	-1.27425825751002	0.04781	0.2263567	0.999999937993156	0.74766	0.732398	0.92422	0	0.658105	0.61773	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.3	-7.7	0.01120	-0.086000	0.11198	-0.494000	0.08842	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.766000	0.36367	0.3729:0.4995:0.1276:0.0	10.763	0.45474	988	0.01987	FERM domain|Band 4.1 domain;.;.;FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009577	0.000000	0.002717	0.020468	0.000000	0.008621	0.012270	0.022727	0.05	2171.43	40	chr2	241373241	.	A	G	2171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.999;DP=520;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=1.6;SOR=0.628	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr2	241468311	241468311	C	T	exonic	FARP2	.	nonsynonymous SNV	FARP2:NM_014808:exon18:c.C2065T:p.R689C	.	431	1085	5	1	0	7	0.00321543	.	.	.	3432128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.438	0.304377772976	7.7e-05	.	8.296e-05	0	0.0006	0	0	3.025e-05	0	6.058e-05	6.47e-05	10	154602	rs371732314	4.586e-05	4.583e-05	4.631e-05	4.54e-05	0.0014	3.663e-05	3.349e-05	0.0007	0.0005	0	0.0002	0	2.519e-05	3.798e-05	0.0014	3.417e-05	3.312e-05	5.797e-05	1.312e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.063	0.36709	T	0.065	0.44702	T	0.999	0.77913	D	0.828	0.59497	P	0.000208	0.47681	D	0.132550	0.999334	0.46701	D	2.045	0.56016	M	-0.35	0.68616	T	-5.21	0.83763	D	0.404	0.44474	-0.4802	0.69359	T	0.321	0.68986	T	10	0.4131715	0.56363	T	0.304378	0.90986	D	0.438	0.74235	.	.	0.704587578234	0.70202	0.34701300616366715	0.34615	0.38536958446	0.39828	0.33414721489	0.15560	T	0.300841	0.67331	T	-0.203565	0.20291	T	-0.236697	0.51120	T	0.566395938396454	0.35097	D	0.946505	0.79528	D	0.28001082	0.51049	0.4410702	0.67403	0.28001082	0.51049	0.4410702	0.67404	-9.772	0.72535	D	.	.	0.150	0.33249	B	.	.	5.081050	0.84794	28.4	0.99922065141742367	0.98852	0.95599	0.65367	D	AEFDBI	0.759805	0.69802	D	0.624372469354337	0.74718	6.180716	0.604122294929415	0.75238	6.275504	0.800405162718913	0.24176	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.96	4.0	0.45673	5.876000	0.69414	3.143000	0.36491	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.987000	0.62547	0.3331:0.54:0.1269:0.0	6.845	0.23163	982	0.03397	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1974.43	39	chr2	241468311	.	C	T	1974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.051;DP=528;ExcessHet=0;FS=0.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=2.06;SOR=0.585	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr2	241494066	241494066	C	T	exonic	FARP2	.	stopgain	FARP2:NM_014808:exon27:c.C3106T:p.Q1036X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.266e-06	0	0	0	0	1.621e-05	0	0	1.29e-05	2	154602	rs775042492	2.176e-05	2.257e-05	2.123e-05	2.232e-05	2.621e-05	1.509e-05	1.299e-05	1.795e-05	1.538e-05	0	0	0	0	0	0	2.621e-05	1.895e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256314	0.15404	N	0.609098	0.999579	0.47641	D	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368301	0.87904	D	0.291262	0.87750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.074091	0.94497	34	0.9455643464012079	0.25077	0.35724	0.25368	N	AEFDBCI	0.254020	0.37341	N	0.219335905239695	0.52138	3.38983	-0.148270649185404	0.33474	1.915217	0.827822606878035	0.24639	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.508809	0.08732	0	.	.	2.91	1.72	0.23498	-0.005000	0.12791	0.807000	0.21715	0.530000	0.24713	0.005000	0.17040	0.663000	0.26026	0.008000	0.08271	0.4071:0.5929:0.0:0.0	5.949	0.18470	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1811.43	39	chr2	241494066	.	C	T	1811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.782;DP=510;ExcessHet=0;FS=6.346;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.31;SOR=1.063	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr2	241559531	241559531	C	G	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon2:c.C48G:p.D16E	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0494748583019	0.0002	0.000599042	0.0022	0.0010	0.0010	0	0	0.0040	0	0.0012	0.0004528	70	154602	rs148655369	0.0005	0.0005	0.0005	0.0005	0.0095	0.0005	0.0005	0.0075	0.0068	0.0005	0.0001	0.0015	0	0	0.0095	0.0005	0.0009	0.0006	0.0004	0.0004	0.0005	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0004	0.0017	0	0	0.0068	0.0005	0.0009	0.0008	0.745	0.03642	T	1.0	0.01155	T	0.013	0.16609	B	0.006	0.12133	B	0.138607	0.18372	U	0.532828	0.693175	0.30172	N	0.27	0.09956	N	2.28	0.17271	T	-0.78	0.21644	N	0.053	0.02462	-0.9953	0.31218	T	0.009	0.03183	T	10	0.007321894	0.00167	T	0.049475	0.63828	D	0.070	0.20419	0.355	0.35571	0.151104730317	0.14643	0.12851615478675787	0.12776	1.23558500753	0.81454	0.88371104002	0.94456	D	0.13331	0.46391	T	-0.657457	0.00065	T	-0.797695	0.01961	T	0.0128139267183558	0.00218	T	0.781822	0.41691	T	0.07006757	0.15403	0.032849967	0.02084	0.07006757	0.15403	0.032849967	0.02084	-3.183	0.12274	T	.	.	0.193	0.41264	B	.	.	1.501531	0.19302	14.19	0.90296168723411152	0.19563	0.14794	0.18588	N	AEFDBHCIJ	0.073512	0.14706	N	-1.10724340682353	0.06513	0.3000349	-0.938284526142739	0.11196	0.5688847	0.999999979499972	0.74766	0.72623	0.87236	0	0.491552	0.07993	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.0	0.609	0.16752	-0.157000	0.10072	-0.258000	0.10450	-1.096000	0.01523	0.940000	0.32642	0.276000	0.24078	0.979000	0.57723	0.2997:0.2925:0.2753:0.1324	1.120	0.01617	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008709	0.000000	0.015068	0.017857	0.000000	0.000000	0.000000	0.000000	0.05	1146.43	33	chr2	241559531	.	C	G	1146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.031;DP=392;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=1.1;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,927	9	0	1	0
chr2	241720105	241720105	G	A	exonic	ING5	.	nonsynonymous SNV	ING5:NM_001330161:exon8:c.G748A:p.A250T	.	421	1080	18	3	0	24	0.010989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0008991	139	154602	rs150207390	0.0053	0.0043	0.0052	0.0054	0.0122	0.0051	0.0051	0.0109	0.0104	0.0007	0.0067	0.0011	3.753e-05	0.0012	0.0062	0.0055	0.0050	0.0122	0.0038	0.0038	0.0041	0.0036	0.0155	0.0036	0.0035	0.0127	0.0117	0.0011	0	0.0057	0.0012	0	0.0010	0.0068	0.0050	0.0095	0.0155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006436944	0.00146	T	.	.	.	.	.	.	.	.	.	0.03679415220182453	0.03626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285271	0.05070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.	.	-0.366095	0.02342	0.253	0.82576644974495605	0.14264	0.01617	0.05229	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.00191383987539138	0.09002	0.115753	0.02995	0	0.12628	0.03447	0	0.17184	0.04098	0	0.089868	0.02511	0	0.0570213	0.13559	0.605	-0.892	0.10035	-0.221000	0.09208	-3.134000	0.03032	-0.416000	0.05245	0.040000	0.20979	0.000000	0.08366	0.013000	0.09966	.	.	.	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	416.43	35	chr2	241720105	.	G	A	416.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.959;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-1.226;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1075:.	9	0	1	0
chr2	241872992	241872992	C	G	exonic	RTP5	.	nonsynonymous SNV	RTP5:NM_173821:exon2:c.C1437G:p.F479L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00194085046419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	0.286	0.21277	T	0.114	0.26387	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	2.26	0.17596	T	-1.38	0.34198	N	0.03	0.00717	-0.9967	0.30838	T	0.023	0.09968	T	9	0.05341187	0.05529	T	0.001941	0.03456	T	0.005	0.00259	0.502	0.59460	0.0297737177859	0.01360	0.08146663059390093	0.08081	0.204166068536	0.22834	0.398306906223	0.24832	T	0.019483	0.15513	T	-0.295696	0.09071	T	-0.662524	0.08096	T	0.116898508070938	0.14123	T	0.321368	0.06521	T	0.056227617	0.11033	0.0650823	0.13140	0.056227617	0.11033	0.0650823	0.13140	-2.625	0.06695	T	.	.	0.834	0.78938	P	.	.	-0.305306	0.02594	0.320	0.6153180354958101	0.06732	0.01672	0.05346	N	AEFDBI	0.031482	0.03376	N	-1.33959908696544	0.03233	0.1441141	-1.41587822611353	0.03093	0.1436064	0.961300638053437	0.28545	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.14	0.162	0.14269	-0.279000	0.08512	-2.396000	0.03807	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6033:0.2392:0.1574	4.013	0.09120	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1866.43	39	chr2	241872992	.	C	G	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.03;DP=492;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.103;SOR=0.56	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1102	9	0	1	0
chr3	4410875	4410875	G	A	exonic	SUMF1	.	nonsynonymous SNV	SUMF1:NM_001164674:exon6:c.C869T:p.T290M,SUMF1:NM_001164675:exon7:c.C944T:p.T315M,SUMF1:NM_182760:exon7:c.C944T:p.T315M	Multiple sulfatase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2137061	Inborn_genetic_diseases|Multiple_sulfatase_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010088,MedGen:C0268263,OMIM:272200,Orphanet:585	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.104735074412	0.0002	.	5.768e-05	0	8.664e-05	0	0.0002	5.994e-05	0	6.056e-05	4.53e-05	7	154602	rs146164667	4.653e-05	4.652e-05	4.493e-05	4.814e-05	5.797e-05	3.728e-05	3.412e-05	3.632e-05	3.288e-05	2.988e-05	4.472e-05	0	0	1.872e-05	0	4.677e-05	0.0001	5.797e-05	6.572e-05	6.567e-05	8.993e-05	4.037e-05	0.0001	3.517e-05	2.617e-05	4.765e-05	3.339e-05	7.24e-05	0	0	0	0	0	0	0.0001	0	0	0.089	0.32141	T	0.091	0.40110	T	0.934	0.52202	P	0.493	0.47443	P	0.276150	0.15033	N	0.697001	1	0.08975	N	1.055	0.26876	L	-3.46	0.94508	D	-1.08	0.33401	N	0.149	0.42737	-0.0443	0.81327	T	0.689	0.89246	D	10	0.12035918	0.22796	T	0.104735	0.77947	D	0.330	0.65226	.	.	0.777478822742	0.77542	0.5842205896079422	0.58351	0.0938416663665	0.10600	0.309596598148	0.11846	T	0.604521	0.88607	D	-0.162139	0.26431	T	-0.255343	0.49287	T	0.024825333057979	0.01249	T	0.808019	0.54241	T	0.040013433	0.05631	0.03569767	0.02870	0.024084842	0.01205	0.044559356	0.05798	-7.544	0.57919	D	0.17035818648955256	0.21415	0.067	0.11269	B	.;.;.;.	.;.;.;.	1.364693	0.17740	13.34	0.99439743937600378	0.64720	0.16246	0.19299	N	AEFDGBCIJ	0.112289	0.22200	N	-0.580902577400272	0.19524	1.022561	-0.680558358315045	0.17447	0.9277631	0.999989433794365	0.51787	0.75658	0.98901	0	0.522029	0.08744	0	0.659464	0.59346	0	0.656636	0.63459	0	.	.	5.42	1.43	0.21585	0.923000	0.28364	0.609000	0.20011	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.2231:0.1315:0.6454:0.0	6.479	0.21252	923	0.18507	Sulfatase-modifying factor enzyme;.;Sulfatase-modifying factor enzyme;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1713.43	42	chr3	4410875	.	G	A	1713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.016;DP=497;ExcessHet=0;FS=1.899;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.97;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1153	9	0	1	0
chr3	5211148	5211148	A	G	exonic	EDEM1	.	nonsynonymous SNV	EDEM1:NM_014674:exon10:c.A1612G:p.I538V	.	438	1082	2	0	0	2	0.000923361	.	.	.	3248223	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.00473422158117	0.0002	0.000199681	0.0002	0.0002	0.0005	0	0	0.0003	0	0	0.000194	30	154602	rs140135927	0.0003	0.0003	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0.0003	0.0003	0.0005	0.0001	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	2.405e-05	0	0.0005	0	0	0	0	0.0004	0.0005	0.0002	0.35	0.15098	T	0.344	0.17804	T	0.002	0.09854	B	0.021	0.19346	B	0.000000	0.84330	D	0.049308	0.990948	0.41272	D	0.625	0.15840	N	-0.58	0.71425	T	-0.01	0.07155	N	0.242	0.27316	-0.9322	0.43814	T	0.153	0.48222	T	10	0.046563268	0.03863	T	0.004734	0.11784	T	0.111	0.31313	.	.	0.72833840645	0.72592	0.2345095761432582	0.23365	0.220308387695	0.24570	0.589557409286	0.51432	T	0.127107	0.45393	T	-0.43752	0.01337	T	-0.476658	0.24803	T	0.0496705822739013	0.05443	T	0.907309	0.67223	D	0.04825177	0.08380	0.059128284	0.11043	0.04825177	0.08379	0.059128284	0.11043	-4.12	0.25584	T	.	.	0.068	0.03849	B	.;.	.;.	1.611056	0.20585	14.82	0.9861568151959772	0.43704	0.77611	0.38180	D	AEFDGBCI	0.143779	0.26656	N	-0.221445267091434	0.32255	1.817081	0.00729321057825877	0.40053	2.384263	0.999999034642494	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	4.421000	0.59598	4.531000	0.43726	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.8376:0.0:0.1624:0.0	7.703	0.27801	764	0.49969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1326.43	34	chr3	5211148	.	A	G	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.673;DP=463;ExcessHet=0;FS=1.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.31;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr3	9669457	9669457	T	A	exonic	MTMR14	.	nonsynonymous SNV	MTMR14:NM_001077525:exon5:c.T519A:p.D173E,MTMR14:NM_001077526:exon5:c.T519A:p.D173E,MTMR14:NM_022485:exon5:c.T519A:p.D173E	.	414	1097	11	0	0	11	0.00498866	.	.	.	686469	not_provided|MTMR14-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.002170444845	0.0026	0.000998403	0.0025	0.0006	0.0011	0	0.0019	0.0037	0.0011	0.0011	0.0025032	387	154602	rs189614064	0.0035	0.0035	0.0035	0.0035	0.0043	0.0034	0.0034	0.0042	0.0041	0.0007	0.0012	0	2.519e-05	0.0014	0.0005	0.0043	0.0024	0.0010	0.0026	0.0026	0.0026	0.0025	0.0047	0.0024	0.0023	0.0043	0.0042	0.0009	0	0.0012	0	0.0002	0.0009	0	0.0047	0.0014	0.0004	0.324	0.13392	T	0.456	0.14544	T	0.045	0.21781	B	0.029	0.21540	B	0.002468	0.36499	N	0.345887	0.999875	0.50225	D	0.46	0.12951	N	.	.	.	-0.53	0.17003	N	0.116	0.13198	-1.0351	0.18825	T	0.055	0.23224	T	9	0.0027184188	0.00042	T	0.00217	0.04071	T	0.035	0.08770	0.286	0.24440	0.420939154896	0.41709	0.4414582308137197	0.44062	0.199805453002	0.22381	0.397237896919	0.24685	T	0.093064	0.39135	T	-0.474698	0.00795	T	-0.445252	0.28222	T	0.00260963075190112	0.00027	T	0.770523	0.40040	T	0.04071942	0.05866	0.026175898	0.00694	0.047488663	0.08124	0.025194284	0.00556	-2.021	0.03412	T	0.10249996724304664	0.07799	0.112	0.23430	B	.;.;.	.;.;.	0.647799	0.10163	6.905	0.8245160698984707	0.14199	0.32006	0.24479	N	AEFBCI	0.147500	0.27119	N	-0.924686212426719	0.10266	0.4897985	-0.81278030839542	0.14186	0.7399426	0.999864712669788	0.44398	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.55	3.13	0.35090	0.254000	0.18084	-0.759000	0.07544	-0.155000	0.11859	0.075000	0.22209	0.000000	0.08366	0.987000	0.62547	0.0:0.146:0.1443:0.7097	5.667	0.16975	744	0.52588	.;MTMR14, PH-GRAM domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2571.43	178	chr3	9669457	.	T	A	2571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=502;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-1.4;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1220	9	0	1	0
chr3	9706053	9706053	C	T	exonic	CPNE9	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020442573	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	6.577e-06	6.568e-06	1.286e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000057	0.53742	D	0.068440	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.334	0.37820	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489422	0.93981	D	0.465245	0.93904	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.320346	0.96393	36	0.92335944669080161	0.21733	0.79742	0.39574	D	AEFDBI	0.271005	0.38695	N	-0.125872344584525	0.36269	2.094117	-0.366136187097601	0.26015	1.434237	0.0783981018663456	0.15787	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.28	1.32	0.20897	1.235000	0.32274	0.190000	0.15733	-0.889000	0.02397	0.992000	0.37556	0.950000	0.28999	0.725000	0.34934	0.5712:0.4288:0.0:0.0	15.131	0.72200	702	0.57624	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	438.43	34	chr3	9706053	.	C	T	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.777;DP=385;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.96;ReadPosRankSum=2.49;SOR=0.373	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1070	9	0	1	0
chr3	9759206	9759206	-	T	exonic	OGG1	.	frameshift insertion	OGG1:NM_016828:exon7:c.969dupT:p.M325Yfs*8	Renal cell carcinoma, clear cell, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2838.39	34	chr3	9759206	.	C	CT	2838.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.095;DP=535;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.893;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	9	0	1	0
chr3	9944076	9944076	G	A	exonic	CRELD1	.	nonsynonymous SNV	CRELD1:NM_001374318:exon10:c.G1235A:p.R412H,CRELD1:NM_001031717:exon11:c.G1223A:p.R408H,CRELD1:NM_001374317:exon11:c.G1235A:p.R412H	Atrioventricular septal defect, partial, with heterotaxy syndrome, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	1440914	Atrioventricular_septal_defect,_susceptibility_to,_2|CRELD1-related_disorder|not_provided	MONDO:MONDO:0011650,MedGen:C1853508,OMIM:606217|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.0241984779483	7.7e-05	0.000199681	3.297e-05	0	0	0	0	2.999e-05	0	0.0001	3.23e-05	5	154602	rs144715692	4.951e-05	5.078e-05	4.064e-05	5.697e-05	0.0007	3.581e-05	3.064e-05	0.0002	0.0001	0	6.857e-05	0	0	0	0.0007	3.276e-05	0.0002	0.0001	3.283e-05	3.281e-05	2.57e-05	4.027e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	6.535e-05	0	0	0	0	4.41e-05	0	0.0002	0.006	0.61437	D	0.052	0.47581	T	0.999	0.77913	D	0.994	0.82059	D	0.575825	0.05506	N	1.241650	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.96	0.25551	N	0.074	0.04790	-0.8121	0.54423	T	0.379	0.73602	T	8	0.10178816	0.18618	T	0.024198	0.47185	T	0.085	0.24743	.	.	0.651626734151	0.64872	0.4608305371477373	0.46001	0.207007681812	0.23137	0.228639647365	0.01869	T	.	.	.	-0.390723	0.02661	T	-0.596369	0.13119	T	0.226455420255661	0.21781	T	0.478252	0.14398	T	.	.	.	.	.	.	.	.	-4.45	0.30229	T	.	.	0.077	0.06617	B	.	.	0.419817	0.07906	4.609	0.99570754742706635	0.72379	0.04583	0.10232	N	AEFBCI	0.035384	0.04545	N	-0.454219724734801	0.23596	1.268301	-0.708099782398529	0.16759	0.8880684	0.844673769522771	0.24931	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	2.52	1.63	0.22882	-0.193000	0.09572	-0.016000	0.12991	-0.820000	0.02968	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.7154:0.2846:0.0	7.294	0.25559	628	0.65206	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.000000	0.05	1759.43	33	chr3	9944076	.	G	A	1759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.521;DP=428;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-0.414;SOR=0.854	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr3	10238883	10238883	C	T	exonic	IRAK2	.	nonsynonymous SNV	IRAK2:NM_001570:exon12:c.C1609T:p.L537F	.	.	.	.	.	.	.	.	.	.	.	2677754	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00676924917703	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs778357292	3.42e-06	3.42e-06	4.084e-06	2.75e-06	1.159e-05	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.245	0.24054	T	0.015	0.17086	B	0.01	0.14941	B	0.531868	0.11630	N	0.725365	1	0.08975	N	1.245	0.31408	L	0.62	0.53302	T	-0.81	0.22294	N	0.066	0.03841	-1.0335	0.19332	T	0.051	0.21650	T	10	0.02896896	0.01025	T	0.006769	0.17897	T	0.053	0.14996	0.202	0.11659	0.463928626847	0.46019	0.11690644286936248	0.11618	0.158782473299	0.17923	0.302913993597	0.10836	T	0.062079	0.31822	T	-0.325506	0.06458	T	-0.608489	0.12108	T	0.0809571444988251	0.10109	T	0.640436	0.25296	T	0.050650354	0.09184	0.061458316	0.11871	0.050650354	0.09184	0.061458316	0.11870	-4.847	0.35134	T	.	.	0.072	0.04080	B	.	.	1.792683	0.22787	15.76	0.98138679681395502	0.38580	0.02750	0.07434	N	AEFDBI	0.033003	0.03835	N	-1.0541724376188	0.07506	0.3488981	-1.04277389929676	0.08857	0.4376262	0.991194195215798	0.32405	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.39	-1.67	0.07798	0.185000	0.16767	0.132000	0.15059	0.599000	0.40250	0.042000	0.21073	0.046000	0.21717	0.949000	0.49496	0.2054:0.2847:0.1341:0.3759	0.674	0.00809	721	0.55360	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2344.43	35	chr3	10238883	.	C	T	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=562;ExcessHet=0;FS=2.862;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.201;SOR=0.905	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	9	0	1	0
chr3	10336137	10336139	GCA	-	exonic	ATP2B2	.	nonframeshift deletion	ATP2B2:NM_001330611:exon20:c.3447_3449del:p.A1151del,ATP2B2:NM_001363862:exon20:c.3447_3449del:p.A1151del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.743e-05	0	0	0	0	0.0002	0	0	6.5e-06	1	154602	rs777510523	1.931e-05	1.847e-05	1.835e-05	2.03e-05	2.502e-05	1.322e-05	1.133e-05	1.714e-05	1.469e-05	0	0	0	0	0	0	2.502e-05	0	0	3.286e-05	3.284e-05	2.57e-05	4.037e-05	7.351e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2305.39	34	chr3	10336136	.	TGCA	T	2305.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.175;DP=440;ExcessHet=0;FS=0.669;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.3;ReadPosRankSum=-0.567;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	9	0	1	0
chr3	11018647	11018647	C	G	exonic	SLC6A1	.	stopgain	SLC6A1:NM_001348250:exon5:c.C420G:p.Y140X,SLC6A1:NM_001348251:exon5:c.C60G:p.Y20X,SLC6A1:NM_003042:exon5:c.C420G:p.Y140X	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.9e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.869	0.86618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	8.764190	0.97991	38	0.99715845803623193	0.81703	0.94598	0.61689	D	AEFDBI	0.162699	0.28890	N	0.647254133725166	0.76191	6.441153	0.486709776876107	0.67108	5.04014	0.9095199609595	0.26314	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	3.71	0.41733	3.332000	0.51798	2.256000	0.31725	-0.260000	0.06918	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8347:0.0:0.1653	9.207	0.36459	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	189.43	33	chr3	11018647	.	C	G	189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.609;DP=567;ExcessHet=0;FS=93.254;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=3.26;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,24:171:99:0|1:11018647_C_G:201,0,5607:11018647	9	0	1	0
chr3	11018648	11018648	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A421G:p.I141V,SLC6A1:NM_001348251:exon5:c.A61G:p.I21V,SLC6A1:NM_003042:exon5:c.A421G:p.I141V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0134550420386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.383e-06	1.029e-05	1.377e-06	1.388e-06	1.822e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.822e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.336	0.18232	T	0.1	0.25713	B	0.09	0.29851	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.425	0.35738	L	-0.81	0.73949	T	-0.8	0.22078	N	0.48	0.51494	-0.6455	0.62909	T	0.281	0.65239	T	10	0.49007845	0.60939	T	0.013455	0.32862	T	0.274	0.59007	0.594	0.72371	0.35158688536	0.34763	0.606656179932116	0.60596	1.10768363041	0.77946	0.767571687698	0.77061	T	0.166415	0.51264	T	0.0481983	0.58110	T	-0.168543	0.57575	T	0.885394752025604	0.53572	D	0.946405	0.79487	D	0.3557571	0.57511	0.3215052	0.58098	0.3557571	0.57512	0.3215052	0.58097	-7.56	0.58031	D	0.21143025180598024	0.28348	0.131	0.40873	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.885109	0.56491	23.7	0.99830203036871212	0.91198	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.0702871894512385	0.45080	2.770647	0.228486286727377	0.51435	3.32594	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	9.197000	0.94121	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	186.43	33	chr3	11018648	.	A	G	186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.446;DP=567;ExcessHet=0;FS=93.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=3.36;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,24:172:99:0|1:11018647_C_G:198,0,5647:11018647	9	0	1	0
chr3	11018654	11018654	A	G	exonic	SLC6A1	.	nonsynonymous SNV	SLC6A1:NM_001348250:exon5:c.A427G:p.I143V,SLC6A1:NM_001348251:exon5:c.A67G:p.I23V,SLC6A1:NM_003042:exon5:c.A427G:p.I143V	Myoclonic-atonic epilepsy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.501	0.0235481953059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.325	0.18846	T	0.999	0.77913	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.54	0.38927	L	-0.97	0.75670	T	-0.42	0.14193	N	0.431	0.47022	-0.2256	0.77003	T	0.446	0.78203	T	10	0.73895884	0.74820	D	0.023548	0.46515	T	0.501	0.78413	0.651	0.78858	0.699533008514	0.69693	0.7291083010060595	0.72855	1.36049371721	0.84323	0.85450553894	0.90293	D	0.152024	0.49223	T	0.0609312	0.59730	T	-0.150253	0.59221	T	0.949715793132782	0.63174	D	0.921708	0.71584	D	0.18418859	0.39723	0.1642013	0.38051	0.18418859	0.39722	0.1642013	0.38050	-4.846	0.35123	T	0.10910972120441913	0.09074	0.235	0.59080	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.575085	0.72214	25.8	0.99820221140467402	0.90326	0.98607	0.84635	D	AEFDBI	0.949265	0.96174	D	0.592272280113979	0.72691	5.845828	0.595767375292205	0.74636	6.170868	0.999999727637841	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.385000	0.79030	11.280000	0.91702	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.420	0.66752	958	0.09170	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	193.21	115	chr3	11018654	.	A	G	193.21	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.256;DP=857;ExcessHet=0;FS=97.543;InbreedingCoeff=-0.0915;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=3.92;SOR=6.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,24:170:99:0|1:11018647_C_G:204,0,5510:11018647	8	0	1	1
chr3	11348028	11348028	C	T	exonic	ATG7	.	nonsynonymous SNV	ATG7:NM_001144912:exon11:c.C1160T:p.P387L,ATG7:NM_001349236:exon11:c.C1160T:p.P387L,ATG7:NM_001349238:exon11:c.C344T:p.P115L,ATG7:NM_001136031:exon12:c.C1277T:p.P426L,ATG7:NM_006395:exon12:c.C1277T:p.P426L,ATG7:NM_001349233:exon13:c.C1277T:p.P426L,ATG7:NM_001349234:exon13:c.C1277T:p.P426L,ATG7:NM_001349235:exon13:c.C1277T:p.P426L,ATG7:NM_001349232:exon14:c.C1277T:p.P426L	.	427	1080	15	0	0	15	0.00689655	.	.	.	1668941	NAFLD1|Spinocerebellar_ataxia,_autosomal_recessive_31|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|MONDO:MONDO:0030323,MedGen:C5543627,OMIM:619422|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.548	0.170082352553	0.0007	0.000399361	0.0011	0.0005	0.0003	0	0.0002	0.0014	0	0.0019	0.0010867	168	154602	rs143545741	0.0014	0.0014	0.0014	0.0015	0.0047	0.0014	0.0013	0.0033	0.0029	0.0001	0.0008	3.833e-05	0	0.0002	0.0047	0.0016	0.0011	0.0023	0.0009	0.0009	0.0010	0.0009	0.0021	0.0008	0.0008	0.0012	0.0011	0.0002	0.0121	0.0005	0	0	0.0003	0.0102	0.0014	0.0014	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.165	0.97651	H	0.73	0.50721	T	-10.0	0.98823	D	0.965	0.97535	0.400	0.89097	D	0.530	0.82554	D	10	0.18800867	0.34336	T	0.170082	0.84773	D	0.548	0.81252	.	.	0.956588408944	0.95612	0.8616706473677921	0.86131	0.951127366345	0.72634	0.6772762537	0.63878	T	0.738446	0.92736	D	0.00510262	0.52356	T	0.228386	0.84589	D	0.782874047756195	0.45231	D	0.956004	0.89015	D	0.97037166	0.98295	0.93351585	0.97335	0.97037166	0.98295	0.93351585	0.97336	-10.787	0.78856	D	.	.	0.722	0.74650	P	.;.;.	.;.;.	4.950481	0.81771	27.6	0.99894003545533616	0.96742	0.98369	0.82077	D	AEFBI	0.844561	0.76151	D	1.1214979573127	0.98513	18.49366	1.02809730580699	0.99099	20.672	0.999999999999863	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.455000	0.79783	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:1.0:0.0:0.0	20.478	0.99191	660	0.61921	.;.;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004044	0.000000	0.005435	0.002924	0.000000	0.000000	0.006173	0.003788	0.05	892.43	33	chr3	11348028	.	C	T	892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.587;DP=378;ExcessHet=0;FS=3.618;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.063;SOR=0.331	GT:AD:DP:GQ:PL	0/1:30,37:67:99:904,0,819	9	0	1	0
chr3	12004669	12004669	C	T	exonic	SYN2	.	nonsynonymous SNV	SYN2:NM_003178:exon1:c.C118T:p.P40S,SYN2:NM_133625:exon1:c.C118T:p.P40S	.	365	1144	11	2	0	15	0.00651324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0	0	0	0	0	0	0	0	0.0003458	9	26028	rs537422953	0.0003	0.0006	0.0002	0.0003	0.0064	0.0002	0.0002	0.0043	0.0036	0	0.0002	0	0	0	0.0048	0.0002	0.0003	0.0064	0.0004	0.0004	0.0003	0.0005	0.0086	0.0003	0.0003	0.0065	0.0058	7.372e-05	0	0.0001	0	0	0	0	0.0001	0	0.0086	.	.	.	0.217	0.42614	T	0.0	0.02946	B	0.002	0.08700	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.289	0.33030	.	.	.	.	.	.	.	0.0077893734	0.00177	T	.	.	.	.	.	.	.	0.469248961376	0.46551	0.4494441776383023	0.44862	.	.	0.738715410233	0.72783	T	0.181254	0.53286	T	-0.00527735	0.50923	T	-0.245357	0.50274	T	.	.	.	0.317468	0.06331	T	0.04434025	0.07070	0.10494374	0.25217	0.04434025	0.07070	0.10494374	0.25217	-4.894	0.36358	T	.	.	0.053	0.00470	B	.;.	.;.	1.430256	0.18485	13.76	0.97542403633306185	0.34523	0.06603	0.12618	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.992708679349095	0.32938	0.166803	0.03914	0	0.063554	0.01753	0	0.182457	0.04408	0	0.166187	0.04126	0	0.129931	0.25704	2.44	0.465	0.15923	1.100000	0.30637	0.762000	0.21323	-0.708000	0.03965	0.107000	0.22934	0.998000	0.33993	0.412000	0.27050	0.0:0.6053:0.2416:0.1531	4.049	0.09266	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	262.43	28	chr3	12004669	.	C	T	262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.272;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.297;SOR=0.818	GT:AD:DP:GQ:PL	0/0:23,0:23:36:0,36,540	9	0	1	0
chr3	12936043	12936043	C	T	exonic	IQSEC1	.	nonsynonymous SNV	IQSEC1:NM_001134382:exon3:c.G973A:p.A325T,IQSEC1:NM_001330619:exon3:c.G649A:p.A217T,IQSEC1:NM_014869:exon3:c.G1015A:p.A339T,IQSEC1:NM_001376938:exon5:c.G1297A:p.A433T	.	.	.	.	.	.	.	.	.	.	.	2679633	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.098	0.0168634935551	7.9e-05	.	0.0001	0.0001	8.818e-05	0.0001	0	0.0002	0	6.121e-05	0.0001229	19	154602	rs372228887	9.026e-05	9.371e-05	9.466e-05	8.582e-05	0.0002	7.745e-05	7.285e-05	7.599e-05	7.088e-05	2.988e-05	0.0002	0	0.0001	6.881e-05	0.0002	9.085e-05	0.0002	2.319e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0	0	0.392	0.10766	T	0.795	0.06881	T	0.001	0.07471	B	0.001	0.04355	B	0.043679	0.23716	N	0.474736	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.71	0.20145	N	0.095	0.11912	-1.0191	0.24008	T	0.041	0.17488	T	9	0.10298577	0.18907	T	0.016863	0.38312	T	0.169	0.43123	.	.	0.640554438947	0.63759	0.16068317055373854	0.15989	0.484856339014	0.47389	0.448931455612	0.31798	T	0.051648	0.28938	T	-0.375405	0.03329	T	-0.50772	0.21550	T	0.0729858353734016	0.09063	T	0.666633	0.27564	T	0.016865902	0.00228	0.03113861	0.01661	0.016865902	0.00228	0.03113861	0.01661	-4.724	0.33693	T	.	.	0.067	0.04041	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.394164	0.07656	4.325	0.90525653885203572	0.19782	0.30316	0.24051	N	AEFDBI	0.035553	0.04597	N	-0.958101437406542	0.09512	0.4504996	-1.1047910988643	0.07608	0.3707401	0.985945779771893	0.30976	0.706548	0.73137	0	0.724815	0.89359	0	0.570548	0.19454	0	0.491896	0.07777	0	.	.	4.86	-3.73	0.04112	0.753000	0.26042	-2.799000	0.03349	-1.798000	0.00628	0.930000	0.32276	0.000000	0.08366	0.002000	0.04165	0.3523:0.1821:0.1628:0.3028	0.209	0.00143	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1453.43	34	chr3	12936043	.	C	T	1453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=1.11;SOR=0.741	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1163	9	0	1	0
chr3	13571581	13571581	C	T	exonic	FBLN2	.	nonsynonymous SNV	FBLN2:NM_001004019:exon2:c.C1226T:p.P409L,FBLN2:NM_001165035:exon2:c.C1226T:p.P409L,FBLN2:NM_001998:exon2:c.C1226T:p.P409L	.	424	1055	43	0	0	43	0.0199721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0029	0.0107827	0.0092	0.0012	0.0020	0.0001	0.0002	0.0045	0.0036	0.0495	0.0082211	1271	154602	rs113265853	0.0067	0.0067	0.0055	0.0079	0.0456	0.0066	0.0065	0.0445	0.0440	0.0007	0.0017	0.0079	0.0001	0.0005	0.0151	0.0045	0.0078	0.0456	0.0044	0.0044	0.0040	0.0049	0.0370	0.0042	0.0040	0.0326	0.0309	0.0013	0	0.0029	0.0072	0	0.0006	0.0102	0.0052	0.0057	0.0370	0.142	0.25457	T	0.229	0.25210	T	0.037	0.20876	B	0.006	0.12133	B	0.707188	0.10044	N	0.862260	0.999978	0.18612	N	1.5	0.37844	L	-1.21	0.78645	T	-1.09	0.28290	N	0.134	0.13055	-0.9270	0.44573	T	0.170	0.51020	T	10	0.0025327504	0.00038	T	.	.	.	0.107	0.30369	.	.	0.256237801699	0.25221	0.42514303904641865	0.42431	0.126456553319	0.14255	0.256454885006	0.04477	T	0.227162	0.59237	T	-0.483817	0.00703	T	-0.43489	0.29382	T	0.00595067492918667	0.00065	T	0.684232	0.29249	T	0.03889599	0.05269	0.03206822	0.01886	0.03889599	0.05269	0.03206822	0.01886	-7.252	0.60064	T	.	.	0.074	0.06849	B	.;.;.	.;.;.	0.804273	0.11749	8.326	0.43754700355444892	0.03316	0.14055	0.18198	N	AEFDBI	0.085707	0.17376	N	-0.957163362943768	0.09532	0.4515708	-0.981177737210309	0.10209	0.5126888	0.998497507380997	0.37071	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.85	0.861	0.18186	0.731000	0.25726	-1.422000	0.05477	0.599000	0.40250	0.078000	0.22289	0.000000	0.08366	0.007000	0.07825	0.0:0.6287:0.1376:0.2337	5.851	0.17945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019134	0.005051	0.012228	0.008772	0.050000	0.034483	0.030488	0.030303	0.05	1931.43	40	chr3	13571581	.	C	T	1931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.235;DP=472;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-2.013;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	9	0	1	0
chr3	14514356	14514356	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.G1429A:p.A477T	.	422	1042	55	3	0	61	0.0284382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00678914	0.0209	0.0032	0.0079	0	0.0361	0.0183	0.0125	0.0372	0.0076972	1190	154602	rs61731933	0.0084	0.0084	0.0075	0.0093	0.0336	0.0083	0.0082	0.0325	0.0321	0.0019	0.0026	0.0082	7.976e-05	0.0106	0.0125	0.0072	0.0070	0.0336	0.0070	0.0070	0.0064	0.0077	0.0310	0.0067	0.0065	0.0268	0.0252	0.0025	0	0.0021	0.0071	0	0.0137	0.0103	0.0088	0.0063	0.0310	.	.	.	0.015	0.63109	D	0.973	0.57599	D	0.866	0.61580	P	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.451	0.48872	.	.	.	.	.	.	.	0.008893639	0.00201	T	.	.	.	.	.	.	.	.	.	0.4809170231000565	0.48011	.	.	0.710757851601	0.68703	T	0.046215	0.27356	T	-0.15527	0.27491	T	0.0278743	0.72140	D	.	.	.	0.920008	0.71084	D	0.14574614	0.33396	0.41954938	0.65945	0.14574614	0.33396	0.41954938	0.65945	-9.597	0.71461	D	.	.	0.149	0.32851	B	.;.;.	.;.;.	3.997254	0.58871	24.0	0.9309622440940325	0.22722	0.95255	0.64015	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999994724982313	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.76698	0.45436	4.73	3.86	0.43689	5.798000	0.68751	3.899000	0.40339	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.921:0.0:0.079	13.007	0.58115	894	0.26265	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	GRIP2|GRIP2|GRIP2|GRIP2|GRIP2	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014170	0.000000	0.016393	0.014620	0.000000	0.017544	0.021472	0.011450	0.05	845.43	56	chr3	14514356	.	C	T	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.789;DP=401;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.1;ReadPosRankSum=0.398;SOR=0.957	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1206	9	0	1	0
chr3	14654469	14654469	T	C	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon2:c.T86C:p.F29S	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	468	1046	8	0	0	8	0.00380952	.	.	.	1016184	not_provided|Severe_hypotonia-psychomotor_developmental_delay-strabismus-cardiac_septal_defect_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0014784,MedGen:C4225196,OMIM:616816,Orphanet:467176|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.380	0.0597530461688	0.0003	0.000199681	0.0002	0	9.537e-05	0	0	0.0004	0	0	0.0001746	27	154602	rs199752374	0.0002	0.0002	0.0001	0.0002	0.0068	0.0001	0.0001	0.0051	0.0045	0.0003	0.0003	3.841e-05	0	0	0.0068	0.0001	0.0003	5.898e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0	0	0.0007	0	0	0	0.0034	0.0003	0	0.0002	0.009	0.57480	D	0.131	0.64786	T	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.325	0.66631	M	0.81	0.48460	T	-4.15	0.81514	D	0.892	0.93723	-0.6093	0.64433	T	0.253	0.62337	T	10	0.60235536	0.66983	D	0.059753	0.67771	D	0.380	0.69780	.	.	0.683511509103	0.68081	0.40599871218794115	0.40515	0.44446215622	0.44356	0.709519147873	0.68523	T	0.451807	0.79238	T	-0.0750653	0.40512	T	-0.0424734	0.67534	D	0.823552429676056	0.48038	D	0.89811	0.64401	D	0.60520107	0.72970	0.5807731	0.75700	0.60520107	0.72971	0.5807731	0.75701	-12.074	0.85209	D	.	.	0.936	0.85548	P	.;.	.;.	5.068968	0.84532	28.3	0.99426544242896198	0.64032	0.97607	0.75865	D	AEFBI	0.754467	0.69433	D	0.669723616271088	0.77649	6.715741	0.662869573945063	0.79572	7.110908	0.9999999998184	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.605231	0.38476	0	.	.	5.38	5.38	0.77279	6.779000	0.74832	7.787000	0.68803	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.371	0.66403	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	361.43	33	chr3	14654469	.	T	C	361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=315;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.556;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,965	9	0	1	0
chr3	14661587	14661587	G	A	exonic	CCDC174	.	nonsynonymous SNV	CCDC174:NM_016474:exon5:c.G365A:p.R122H	Hypotonia, infantile, with psychomotor retardation, Autosomal recessive	423	1069	29	1	0	31	0.0142923	.	.	.	708622	not_provided|CCDC174-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0034	0.00658946	0.0055	0.0009	0.0035	0.0002	0.0012	0.0050	0.0022	0.0164	0.0052005	804	154602	rs142816619	0.0049	0.0050	0.0044	0.0055	0.0162	0.0049	0.0048	0.0155	0.0152	0.0016	0.0046	0.0135	0	0.0013	0.0160	0.0043	0.0054	0.0162	0.0039	0.0039	0.0037	0.0042	0.0170	0.0037	0.0036	0.0140	0.0129	0.0013	0	0.0044	0.0118	0.0006	0.0002	0.0204	0.0048	0.0066	0.0170	0.186	0.21467	T	0.08	0.41913	T	0.011	0.15914	B	0.004	0.10090	B	0.000252	0.46924	N	0.175246	0.981804	0.39818	D	1.745	0.45235	L	0.88	0.46412	T	-1.08	0.28084	N	0.157	0.21319	-1.0653	0.10479	T	0.068	0.27743	T	10	0.0043236315	0.00087	T	.	.	.	0.041	0.10877	.	.	0.639104523021	0.63613	0.14316327492055284	0.14239	0.199788861361	0.22381	0.216794580221	0.01133	T	0.026101	0.27364	T	-0.564125	0.00240	T	-0.570129	0.15438	T	0.0136823931805577	0.00255	T	0.886911	0.61435	D	0.031042334	0.02873	0.039528966	0.04066	0.034937356	0.04016	0.039528966	0.04065	-6.261	0.48413	T	.	.	0.088	0.11797	B	.;.;.	.;.;.	2.539914	0.32855	19.17	0.9991133438895361	0.98095	0.80068	0.39807	D	AEFBI	0.100218	0.20157	N	-0.333416735804446	0.27886	1.533608	-0.237167203402987	0.30215	1.699395	0.946795643710127	0.27723	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	3.72	0.41857	2.868000	0.48134	1.230000	0.25036	0.618000	0.50648	1.000000	0.71638	0.070000	0.22201	0.999000	0.91618	0.23:0.0:0.77:0.0	9.339	0.37229	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016113	0.035354	0.017663	0.011696	0.000000	0.017241	0.012195	0.015152	0.05	1377.43	35	chr3	14661587	.	G	A	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.509;SOR=0.706	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	9	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	994.1	208	chr3	15003967	.	C	G	994.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.547;DP=1799;ExcessHet=4.5998;FS=193.146;InbreedingCoeff=-0.431;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.99;SOR=11.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:162,34:196:16:0|1:15003967_C_G:0,16,4433:15003967	4	0	6	0
chr3	15332386	15332386	C	T	exonic	SH3BP5	.	nonsynonymous SNV	SH3BP5:NM_004844:exon1:c.G23A:p.S8N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.235365405073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.443e-06	1.368e-06	0	2.924e-06	2.523e-05	2.4e-07	9e-08	4.19e-06	1.57e-06	0	0	0	0	0	0	0	0	2.523e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.796	0.04117	T	0.0	0.02946	B	0.0	0.01387	B	0.623602	0.10754	U	0.720818	1	0.81001	D	0.205	0.09354	N	.	.	.	0.0	0.07008	N	0.094	0.07398	-1.0423	0.16621	T	0.085	0.33213	T	9	0.07976231	0.12870	T	0.235365	0.88452	D	0.092	0.26621	0.138	0.04187	0.436671004673	0.43285	0.045665287350674134	0.04510	0.818075938871	0.67025	0.851078093052	0.89777	D	0.071235	0.34157	T	-0.231559	0.16443	T	-0.570395	0.15413	T	0.130770221352577	0.15453	T	0.465553	0.13627	T	0.063230425	0.13291	0.08101372	0.18374	0.063230425	0.13290	0.08101372	0.18374	-5.198	0.38921	T	.	.	0.072	0.04277	B	.	.	1.550534	0.19873	14.48	0.98844555736520823	0.47186	0.27136	0.23192	N	AEFDBHCIJ	0.094865	0.19176	N	-0.500131531688943	0.22076	1.17627	-0.370916445422149	0.25868	1.425266	0.99999999994515	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.581474	0.35302	0	.	.	3.53	2.65	0.30588	-0.117000	0.10681	-0.020000	0.12938	-1.100000	0.01511	0.561000	0.27433	0.005000	0.19230	0.050000	0.15192	0.0:0.8698:0.0:0.1302	6.955	0.23746	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	177.43	26	chr3	15332386	.	C	T	177.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.404;DP=202;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.12;ReadPosRankSum=1.46;SOR=0.903	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	9	0	1	0
chr3	15427876	15427876	A	G	exonic	EAF1	.	nonsynonymous SNV	EAF1:NM_033083:exon1:c.A97G:p.I33V	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.023567522389	0.0031	0.00139776	0.0031	0.0016	0.0028	0	0	0.0039	0	0.0031	0.0008215	127	154602	rs41284029	0.0043	0.0041	0.0043	0.0042	0.0051	0.0042	0.0041	0.0050	0.0049	0.0004	0.0009	4.006e-05	0	0.0002	0.0007	0.0051	0.0035	0.0026	0.0027	0.0027	0.0031	0.0024	0.0050	0.0025	0.0024	0.0046	0.0044	0.0008	0	0.0014	0	0.0002	0.0002	0	0.0050	0.0019	0.0027	0.775	0.03335	T	0.901	0.03039	T	0.002	0.09854	B	0.009	0.14300	B	0.000028	0.55875	D	0.169663	0.999989	0.81001	D	0.605	0.15622	N	.	.	.	-0.48	0.15379	N	0.14	0.13911	-1.0440	0.16118	T	0.041	0.17742	T	9	0.015686184	0.00329	T	0.023568	0.46536	T	0.099	0.28413	.	.	0.329020015101	0.32502	0.3289002399547671	0.32803	0.268055281454	0.29334	0.600853145123	0.53024	T	0.014968	0.12641	T	-0.410661	0.01967	T	-0.361709	0.37855	T	0.0451778805539063	0.04635	T	0.711829	0.32321	T	0.12987062	0.30320	0.111531205	0.26903	0.12987062	0.30320	0.111531205	0.26903	-5.675	0.43470	T	.	.	0.150	0.33249	B	.	.	2.730905	0.35742	19.98	0.93829389964921317	0.23815	0.86087	0.45303	D	ALL	0.585406	0.58384	D	-0.450701202404842	0.23716	1.275533	-0.195866591035718	0.31689	1.795695	0.999999999999777	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.97	4.97	0.65419	3.764000	0.54977	8.887000	0.78351	0.632000	0.51917	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.9173:0.0:0.0827:0.0	9.079	0.35704	581	0.69614	Transcription elognation factor  Eaf, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000971	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007353	0.05	1064.43	39	chr3	15427876	.	A	G	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.54;SOR=0.684	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1020	9	0	1	0
chr3	16212658	16212658	C	A	exonic	GALNT15	.	nonsynonymous SNV	GALNT15:NM_001319051:exon6:c.C1287A:p.D429E,GALNT15:NM_054110:exon6:c.C1287A:p.D429E	.	426	1093	3	0	0	3	0.00137049	.	.	.	2374041	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0137734817759	7.7e-05	.	4.942e-05	0	0	0	0	7.492e-05	0	6.057e-05	3.88e-05	6	154602	rs141612559	4.72e-05	4.788e-05	3.812e-05	5.638e-05	0.0016	3.794e-05	3.476e-05	0.0008	0.0006	0	0	0	0	0	0.0016	4.676e-05	6.624e-05	4.637e-05	3.942e-05	3.938e-05	2.571e-05	5.376e-05	0.0004	1.715e-05	1.129e-05	7.304e-05	3.034e-05	0	0	6.545e-05	0	0	0	0	4.412e-05	0	0.0004	0.494	0.07895	T	0.503	0.15059	T	0.0	0.02946	B	0.001	0.04355	B	0.412270	0.04598	N	1.324110	1	0.08975	N	0.655	0.16177	N	0.28	0.59037	T	-0.86	0.24898	N	0.145	0.14622	-1.0163	0.24916	T	0.111	0.39912	T	10	0.070640326	0.10304	T	0.013773	0.33422	T	0.042	0.11227	0.29	0.25081	0.257786959452	0.25393	0.3293609085996337	0.32849	0.037360310414	0.03961	0.339285820723	0.16331	T	0.011506	0.11431	T	-0.484875	0.00693	T	-0.708564	0.05370	T	0.0190946846096263	0.00617	T	0.509849	0.16238	T	0.038147908	0.05028	0.034640837	0.02569	0.038147908	0.05028	0.034640837	0.02568	-3.974	0.23413	T	.	.	0.091	0.17232	B	.;.	.;.	1.280859	0.16803	12.78	0.7814957624683635	0.12176	0.06259	0.12250	N	AEFDBI	0.099511	0.20030	N	-0.950295835512918	0.09686	0.4595017	-0.95071823169106	0.10905	0.552343	0.362968936057754	0.19795	0.516011	0.20929	0	0.563428	0.19063	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.38	1.28	0.20656	-0.352000	0.07750	-0.034000	0.12756	0.524000	0.24156	0.029000	0.20367	0.000000	0.08366	0.141000	0.19983	0.1365:0.2717:0.4016:0.1902	2.477	0.04300	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1566.43	112	chr3	16212658	.	C	A	1566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.623;DP=422;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.439;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	9	0	1	0
chr3	16370103	16370103	C	T	exonic	RFTN1	.	nonsynonymous SNV	RFTN1:NM_015150:exon6:c.G1003A:p.A335T	.	.	.	.	.	.	.	.	.	.	.	2759767	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.304	0.042685918095	7.7e-05	0.000199681	0.0002	9.61e-05	0	0.0001	0	0	0	0.0011	0.0001358	21	154602	rs138057177	9.919e-05	9.987e-05	6.806e-05	0.0001	0.0013	8.578e-05	8.047e-05	0.0011	0.0011	0.0002	2.236e-05	0	2.519e-05	0	0	9.892e-06	0.0002	0.0013	0.0001	0.0001	0.0001	0.0001	0.0015	8.162e-05	6.719e-05	0.0007	0.0005	0.0003	0	6.534e-05	0	0	0	0	0	0	0.0015	0.004	0.65419	D	0.013	0.63109	D	1.0	0.90584	D	0.966	0.71341	D	0.000000	0.84330	D	0.052859	0.975549	0.39198	D	2.79	0.81396	M	1.3	0.35590	T	-2.07	0.47344	N	0.789	0.78546	-0.6568	0.62417	T	0.210	0.57041	T	10	0.26242262	0.43710	T	0.042686	0.60593	D	0.304	0.62510	.	.	0.515771540734	0.51220	0.44943894464520623	0.44861	0.424428370351	0.42871	0.520946681499	0.41760	T	0.211637	0.57247	T	-0.242937	0.14977	T	-0.16729	0.57690	T	0.175934901279869	0.18974	T	0.911709	0.69400	D	0.3716765	0.58708	0.36967456	0.62233	0.3716765	0.58708	0.36967456	0.62233	-8.344	0.63391	D	.	.	0.300	0.53009	B	.;.	.;.	3.855633	0.55878	23.7	0.99840675062939599	0.92143	0.87222	0.46697	D	AEFDBHCIJ	0.312546	0.41796	N	0.240194155499416	0.53157	3.485779	0.0961272023887077	0.44354	2.718743	0.999999997462298	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.338622	0.05889	2	0.714379	0.83352	0	.	.	5.68	3.84	0.43422	3.561000	0.53515	3.265000	0.37119	0.599000	0.40250	0.993000	0.37899	0.998000	0.33993	0.349000	0.25636	0.2617:0.7383:0.0:0.0	14.888	0.70226	790	0.46189	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2147.43	39	chr3	16370103	.	C	T	2147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=485;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.673;SOR=0.787	GT:AD:DP:GQ:PL	0/1:72,89:161:99:2159,0,1500	9	0	1	0
chr3	19518018	19518018	G	C	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon15:c.G2563C:p.V855L	.	437	1041	44	0	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	.	0.0050	0.00878594	0.0071	0.0013	0.0030	0.0093	0.0003	0.0057	0.0122	0.0202	0.0067464	1043	154602	rs148330866	0.0069	0.0069	0.0066	0.0072	0.0187	0.0068	0.0067	0.0180	0.0177	0.0013	0.0028	0.0089	0.0069	0.0004	0.0104	0.0064	0.0093	0.0187	0.0045	0.0045	0.0046	0.0043	0.0195	0.0042	0.0041	0.0163	0.0151	0.0015	0	0.0028	0.0092	0.0064	0.0002	0.0136	0.0058	0.0066	0.0195	0.449	0.09022	T	0.45	0.12957	T	0.004	0.12183	B	0.006	0.12133	B	0.235214	0.15833	U	0.319355	0.952348	0.26441	N	1.22	0.30592	L	-4.94	0.98409	D	-0.12	0.08809	N	0.442	0.48042	0.347	0.88289	D	0.777	0.92439	D	9	0.0077180862	0.00175	T	.	.	.	0.276	0.59253	.	.	0.819814452651	0.81811	0.3165417831225672	0.31567	0.0221848989643	0.02225	0.566369891167	0.48166	T	0.043438	0.26503	T	-0.276342	0.11059	T	-0.154786	0.58818	T	0.00441561722205172	0.00047	T	0.849515	0.53247	T	0.053219985	0.10038	0.05492728	0.09540	0.053219985	0.10038	0.05492728	0.09539	-3.412	0.15218	T	.	.	0.129	0.27553	B	.	.	2.551420	0.33023	19.22	0.97481368689112602	0.34188	0.90754	0.52198	D	AEFI	0.426222	0.49066	N	-0.214322457249247	0.32546	1.836586	-0.0371423809536064	0.38051	2.236427	5.53132372717157E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.66	3.82	0.43153	3.433000	0.52597	7.417000	0.58687	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0727:0.0:0.7821:0.1452	9.463	0.37962	667	0.61242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.000000	0.006793	0.011696	0.000000	0.008621	0.012195	0.022727	0.1	1842.14	34	chr3	19518018	.	G	C	1842.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.525;DP=432;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.244;SOR=0.65	GT:AD:DP:GQ:PL	0/1:45,29:74:99:647,0,1073	8	0	2	0
chr3	20040510	20040629	CTGCGGGGCAGGAGCCGGGGCAGGGGCCGGGCCCGGGGCGCTGCCCCCGCAGCCTGCGGCGCTTCCGCCCGCGCCCCCGCAGGGCTCCCCCTGCGCCGCTGCCGCCGGGGGCTCGGGCGC	-	exonic	KAT2B	.	nonframeshift deletion	KAT2B:NM_003884:exon1:c.33_152del:p.A14_G53del	.	.	.	.	.	.	.	.	.	.	.	3208522	KAT2B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.6	.	.	.	0.6667	0.5	.	.	.	.	.	.	0.0013	0.0017	0.0012	0.0013	0.0095	0.0012	0.0012	0.0066	0.0057	0.0007	0.0095	0	0	0.0134	0.0005	0.0011	0.0026	0.0003	0.0002	0.0003	0.0003	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	7.316e-05	0.0011	0.0003	0	0	0.0012	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	759.52	3	chr3	20040509	.	GCTGCGGGGCAGGAGCCGGGGCAGGGGCCGGGCCCGGGGCGCTGCCCCCGCAGCCTGCGGCGCTTCCGCCCGCGCCCCCGCAGGGCTCCCCCTGCGCCGCTGCCGCCGGGGGCTCGGGCGC	G	759.52	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.788;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=23.02;ReadPosRankSum=-1.592;SOR=0.527	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,26	8	0	1	1
chr3	23962277	23962277	A	G	exonic	NR1D2	.	nonsynonymous SNV	NR1D2:NM_001145425:exon5:c.A593G:p.E198G,NR1D2:NM_005126:exon5:c.A818G:p.E273G	.	.	.	.	.	.	.	.	.	.	.	2374969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0612595825636	7.7e-05	.	8.242e-05	0	0	0	0	2.999e-05	0	0.0005	7.12e-05	11	154602	rs148998610	7.114e-05	7.114e-05	6.67e-05	7.563e-05	0.0006	5.98e-05	5.588e-05	0.0004	0.0004	0	2.236e-05	0	0	0	0.0003	4.406e-05	4.967e-05	0.0006	4.598e-05	4.596e-05	6.421e-05	2.689e-05	8.819e-05	2.108e-05	1.526e-05	3.761e-05	2.575e-05	2.411e-05	0	0	0	0	0	0	8.819e-05	0	0	0.576	0.06067	T	0.399	0.15059	T	.	.	.	.	.	.	0.002118	0.37227	N	0.247666	0.959904	0.38152	D	.	.	.	-2.98	0.92057	D	0.0	0.07008	N	0.164	0.17278	-0.0944	0.80227	T	0.567	0.84276	D	10	0.075339705	0.11631	T	0.06126	0.68274	D	0.296	0.61616	.	.	0.506648259107	0.50303	0.3031972513676221	0.30232	0.494886680505	0.48041	0.385944902897	0.23096	T	.	.	.	-0.159886	0.26778	T	-0.124711	0.61414	T	0.0670572161749833	0.08231	T	0.80002	0.44558	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01622	B	.	.	2.572387	0.33335	19.31	0.96751268785459565	0.30961	0.96501	0.69454	D	AEFBI	0.504143	0.53583	D	-0.248103854972133	0.31179	1.745726	-0.0331655431195634	0.38226	2.249186	0.999999998789959	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.500000	0.60108	9.282000	0.79722	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	1.0:0.0:0.0:0.0	16.205	0.81933	539	0.73055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1642.43	37	chr3	23962277	.	A	G	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=434;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.115;SOR=0.585	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr3	25733900	25733900	C	A	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon8:c.G1178T:p.R393L,NGLY1:NM_001145294:exon8:c.G1106T:p.R369L,NGLY1:NM_001145295:exon8:c.G1232T:p.R411L,NGLY1:NM_018297:exon8:c.G1232T:p.R411L	Congenital disorder of deglycosylation, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0126869778394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	2.052e-06	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.08212	T	0.534	0.10429	T	0.017	0.24543	B	0.019	0.24114	B	0.000049	0.53742	D	0.120349	0.992156	0.81001	D	-0.015	0.05111	N	1.28	0.35960	T	-0.15	0.09796	N	0.389	0.54147	-1.0701	0.09391	T	0.057	0.23791	T	10	0.18790793	0.34322	T	0.012687	0.31483	T	0.130	0.35528	0.488	0.57257	0.650396906566	0.64749	0.6326354292416294	0.63197	0.0443505034524	0.04785	0.514817476273	0.40897	T	0.108747	0.42204	T	-0.107062	0.35256	T	-0.391564	0.34367	T	0.961127579212189	0.65994	D	0.922508	0.71813	D	0.1407037	0.32452	0.16880266	0.38866	0.1407037	0.32452	0.16880266	0.38866	-1.996	0.03165	T	0.1931836056884787	0.25411	0.286	0.52360	B	.;.;.;.;.	.;.;.;.;.	3.178197	0.43127	21.7	0.74844782770693907	0.10849	0.94860	0.62581	D	AEFBI	0.612955	0.60083	D	-0.0787052111906486	0.38328	2.243107	0.181892034439614	0.48854	3.095955	0.99999895525639	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	5.851000	0.69211	4.917000	0.46007	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.363	0.98865	671	0.60868	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1789.43	47	chr3	25733900	.	C	A	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=1.02;SOR=0.711	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr3	27297207	27297207	T	C	exonic	NEK10	.	nonsynonymous SNV	NEK10:NM_152534:exon15:c.A1202G:p.N401S,NEK10:NM_199347:exon15:c.A1202G:p.N401S	.	433	1052	34	3	0	40	0.0186567	.	.	.	698020	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0094	0.00359425	0.0088	0.0036	0.0071	0.0002	0.0006	0.0133	0.0101	0.0023	0.0079559	1230	154602	rs141057699	0.0095	0.0096	0.0095	0.0095	0.0363	0.0094	0.0093	0.0322	0.0307	0.0030	0.0090	0.0556	0.0002	0.0009	0.0363	0.0096	0.0135	0.0026	0.0077	0.0077	0.0084	0.0070	0.0097	0.0074	0.0072	0.0088	0.0086	0.0029	0	0.0097	0.0602	0.0006	0.0002	0.0238	0.0094	0.0161	0.0029	0.121	0.27783	T	0.029	0.57104	D	0.011	0.15914	B	0.014	0.16862	B	0.005918	0.32413	N	0.344209	0.955034	0.37906	D	1.78	0.46185	L	0.83	0.47815	T	-2.22	0.49846	N	0.348	0.38950	-1.0467	0.15332	T	0.084	0.32900	T	10	0.005595118	0.00124	T	.	.	.	0.082	0.23913	.	.	0.677678353351	0.67494	0.3220118445769102	0.32114	0.186626053331	0.20973	0.480120301247	0.36073	T	0.003156	0.02556	T	-0.573194	0.00212	T	-0.585099	0.14094	T	0.0215633066248969	0.00860	T	0.79872	0.44736	T	0.03760478	0.04853	0.10064199	0.24069	0.03760478	0.04852	0.10064199	0.24068	-8.166	0.65063	D	.	.	0.096	0.15251	B	.;.	.;.	2.527921	0.32681	19.11	0.99135401927465194	0.53383	0.93977	0.59744	D	AEFBHCI	0.718791	0.66988	D	-0.00275865169944812	0.41732	2.501382	0.182280641476564	0.48875	3.09781	0.999984651320607	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	5.711000	0.68052	1.498000	0.26936	-0.690000	0.04136	1.000000	0.71638	0.973000	0.29867	0.551000	0.30197	0.0:0.0:0.0:1.0	15.800	0.78216	518	0.74548	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.031722	0.015152	0.057065	0.046784	0.000000	0.025862	0.009146	0.003788	0.05	1248.43	37	chr3	27297207	.	T	C	1248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.49;DP=411;ExcessHet=0;FS=1.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.08;SOR=0.502	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr3	27721936	27721936	G	C	exonic	EOMES	.	nonsynonymous SNV	EOMES:NM_001278182:exon1:c.C359G:p.A120G,EOMES:NM_005442:exon1:c.C359G:p.A120G	.	.	.	.	.	.	.	.	.	.	.	140915	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.335	0.321973565726	.	.	0.0006	0	0	0	.	0	0	0.0008	0.0001153	3	26028	rs1874198	0.0005	0.0028	0.0004	0.0006	0.0027	0.0005	0.0005	0.0022	0.0021	0.0002	0.0027	0.0014	0.0002	0.0007	0.0006	0.0004	0.0006	0.0026	5.294e-05	0.0002	5.173e-05	5.42e-05	7.389e-05	2.573e-05	1.842e-05	2.858e-05	1.866e-05	0	0	0	0	0	0.0003	0	7.389e-05	0	0	0.164	0.23360	T	0.062	0.45318	T	0.225	0.30426	B	0.005	0.11217	B	0.809191	0.06817	N	1.083960	1	0.18198	P	1.1	0.28011	L	-2.17	0.86815	D	-0.2	0.10136	N	0.218	0.30461	-1.0770	0.07942	T	0.000	0.00011	T	8	0.0058003366	0.00129	T	0.321974	0.91501	D	0.335	0.65718	.	.	.	.	0.33471923188034136	0.33384	0.609113261058	0.55654	0.867552280426	0.92217	D	0.332685	0.70263	T	-0.371724	0.03507	T	-0.275316	0.47281	T	0.0601108897208742	0.07187	T	0.59644	0.22167	T	0.11815584	0.27843	0.21122895	0.45543	0.11815584	0.27842	0.21122895	0.45542	-9.302	0.69676	D	.	.	0.116	0.23395	B	.;.	.;.	2.956025	0.39350	20.9	0.95573808588559095	0.27270	0.21227	0.21327	N	AEFDBHCIJ	0.072296	0.14424	N	-0.83492007230313	0.12424	0.6055239	-0.958454681860755	0.10727	0.5421525	0.999999921793804	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	0.225	-0.451	0.11604	4.020000	0.56900	7.046000	0.57354	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.831000	0.39176	.	.	.	906	0.23090	.;.	.	.	.	.	rs12715125	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.173193	0.175676	0.102871	0.234375	0.125000	0.050000	0.205357	0.134146	0.05	3510.5	15	chr3	27721936	.	G	C	3510.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.784;DP=173;ExcessHet=2.8549;FS=2.214;InbreedingCoeff=-0.2501;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.88;ReadPosRankSum=-0.411;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:4:78:.:.:177,174,173:.	9	0	1	0
chr3	28524676	28524676	G	A	exonic	ZCWPW2	.	nonsynonymous SNV	ZCWPW2:NM_001324170:exon7:c.G873A:p.M291I,ZCWPW2:NM_001324169:exon9:c.G1059A:p.M353I,ZCWPW2:NM_001040432:exon10:c.G1059A:p.M353I	.	491	1030	1	0	0	1	0.000485201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00841882411301	.	.	0.0001	0	0	0	0	7.883e-05	0.0011	0.0007	0.00011	17	154602	rs765011518	4.742e-05	5.133e-05	2.001e-05	7.514e-05	0.0006	3.824e-05	3.489e-05	0.0005	0.0004	0	0	0	2.643e-05	0	0.0006	1.394e-05	1.736e-05	0.0006	2.632e-05	2.627e-05	0	5.39e-05	0.0006	8.15e-06	5.15e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.472e-05	0	0.0006	0.115	0.28520	T	0.174	0.30045	T	0.132	0.27209	B	0.017	0.18140	B	0.000004	0.62929	D	0.000000	0.757592	0.29573	N	1.64	0.41913	L	1.21	0.37230	T	-1.25	0.31576	N	0.211	0.23506	-0.9907	0.32424	T	0.088	0.33996	T	10	0.046173573	0.03776	T	0.008419	0.22282	T	0.059	0.16972	0.141	0.04462	0.0482279557977	0.04254	0.33878854502218003	0.33791	0.0195968451124	0.01924	0.574956893921	0.49376	T	0.00412	0.03532	T	-0.415206	0.01837	T	-0.473397	0.25151	T	0.0718506123754381	0.08909	T	0.632737	0.24712	T	0.17270294	0.37976	0.21228608	0.45692	0.17270294	0.37976	0.21228608	0.45691	-2.101	0.03588	T	.	.	0.665	0.71517	P	.	.	2.453687	0.31600	18.79	0.96315703138320874	0.29397	0.79120	0.39147	D	AEFI	0.329948	0.43014	N	0.160863099991166	0.49327	3.134388	0.278060689003902	0.54261	3.591615	0.0096137689736406	0.11885	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.03	5.15	0.70287	2.955000	0.48814	6.625000	0.56133	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0838:0.0:0.9162:0.0	11.663	0.50618	713	0.56348	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	294.47	33	chr3	28524676	.	G	A	294.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.294;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.339;SOR=1.022	GT:AD:DP:GQ:PL	0/1:12,11:23:99:306,0,320	9	0	1	0
chr3	30778259	30778259	C	T	exonic	GADL1	.	nonsynonymous SNV	GADL1:NM_207359:exon14:c.G1312A:p.A438T	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00659389926062	0.0049	0.00199681	0.0037	0.0008	0.0017	0	0.0033	0.0054	0.0066	0.0018	0.0001921	5	26028	rs143542109	0.0052	0.0053	0.0051	0.0052	0.0056	0.0051	0.0050	0.0055	0.0054	0.0005	0.0023	0.0185	0	0.0034	0.0024	0.0056	0.0049	0.0026	0.0042	0.0042	0.0047	0.0037	0.0064	0.0039	0.0038	0.0059	0.0057	0.0010	0	0.0028	0.0202	0	0.0033	0.0034	0.0064	0.0038	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000786	0.41772	N	0.241129	0.935291	0.26948	N	-0.15	0.04376	N	1.18	0.37746	T	1.62	0.00637	N	0.463	0.49965	-1.0374	0.18109	T	0.020	0.08593	T	10	0.010186911	0.00228	T	0.006594	0.17386	T	0.050	0.13987	.	.	0.0297737177859	0.01360	0.47175260623024184	0.47094	0.0095085458128	0.00866	0.435543239117	0.29967	T	0.008	0.07715	T	-0.540843	0.00331	T	-0.545935	0.17718	T	0.00757071028522608	0.00088	T	0.835117	0.50455	T	0.033086956	0.03459	0.07781945	0.17372	0.033086956	0.03458	0.07781945	0.17371	-2.701	0.07312	T	.	.	0.111	0.21541	B	.	.	2.551693	0.33031	19.22	0.38348791463395926	0.02581	0.77915	0.38368	D	AEFBI	0.174041	0.30115	N	-0.518554976326813	0.21480	1.140251	-0.241176085524428	0.30077	1.690382	0.98632270452313	0.31043	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.02	3.86	0.43689	3.394000	0.52294	3.323000	0.37562	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.7967:0.0:0.2033	9.603	0.38782	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.050000	0.000000	0.003067	0.007576	0.05	279.43	37	chr3	30778259	.	C	T	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.416;DP=346;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.063;SOR=0.209	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr3	31879751	31879751	C	T	exonic	OSBPL10	.	nonsynonymous SNV	OSBPL10:NM_001174060:exon2:c.G361A:p.V121I,OSBPL10:NM_017784:exon2:c.G361A:p.V121I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0105064374269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.063	0.51421	T	0.053	0.22573	B	0.158	0.34617	B	0.012366	0.29198	N	0.356432	0.999226	0.21485	N	0.73	0.18813	N	1.07	0.39586	T	-0.41	0.14000	N	0.084	0.14905	-1.0040	0.28755	T	0.078	0.30982	T	10	0.17858875	0.32951	T	0.010506	0.27131	T	0.044	0.11924	0.181	0.08877	0.476522311808	0.47281	0.11900547902639778	0.11827	0.252503775226	0.27817	0.332184016705	0.15264	T	0.012298	0.10832	T	-0.285127	0.10131	T	-0.647342	0.09141	T	0.14932407438755	0.17049	T	0.324568	0.09893	T	0.02426887	0.01242	0.037930585	0.03550	0.02426887	0.01241	0.037930585	0.03549	-7.267	0.58520	T	.	.	0.068	0.08948	B	.;.	.;.	1.983843	0.25203	16.68	0.98710564649699117	0.45040	0.63047	0.31968	D	AEFDBI	0.158172	0.28380	N	-0.37636581645168	0.26314	1.435152	-0.232722594718899	0.30371	1.709453	0.99994810130037	0.47345	0.706298	0.61202	0	0.610034	0.51514	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.51	3.71	0.41733	0.176000	0.16596	1.360000	0.25874	-0.171000	0.11205	0.741000	0.29037	1.000000	0.68203	0.605000	0.31514	0.1365:0.7209:0.0:0.1426	7.257	0.25358	933	0.16026	Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	942.43	34	chr3	31879751	.	C	T	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.944;DP=417;ExcessHet=0;FS=2.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=0.175;SOR=1.039	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	9	0	1	0
chr3	31989575	31989575	C	T	exonic	ZNF860	.	nonsynonymous SNV	ZNF860:NM_001137674:exon2:c.C496T:p.L166F	.	410	1109	3	0	0	3	0.00135074	.	.	.	2243608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00104807514355	0.0004	0.000199681	0.0003	0	8.639e-05	0	0	0.0004	0	0.0004	0.0002393	37	154602	rs145325915	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	2.987e-05	0	0.0034	0	1.872e-05	0.0002	0.0002	0.0005	0.0004	0.0002	0.0002	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0032	0	0	0	0.0002	0	0.0004	0.012	0.54683	D	0.023	0.57104	D	0.984	0.60733	D	0.969	0.72001	D	.	.	.	.	1	0.08975	N	2.745	0.80253	M	3.41	0.05574	T	-3.34	0.66325	D	0.02	0.00308	-1.0632	0.10974	T	0.038	0.16548	T	8	0.008540958	0.00194	T	0.001048	0.01191	T	0.017	0.02790	.	.	0.314716216878	0.31082	0.005994352278430046	0.00568	0.465862803221	0.46006	0.301982045174	0.10696	T	0.019591	0.15579	T	-0.520086	0.00440	T	-0.674325	0.07334	T	0.110895977010984	0.13515	T	0.10049	0.00746	T	0.1302067	0.30389	0.12402995	0.29899	0.1302067	0.30388	0.12402995	0.29899	-6.873	0.53100	T	.	.	0.090	0.12702	B	.	.	1.903789	0.24177	16.30	0.98958098111793413	0.49266	0.00687	0.02939	N	AEFBI	0.027913	0.02366	N	-0.429751354635434	0.24431	1.319148	-0.755033008712436	0.15599	0.8212004	0.763322335750834	0.23547	0.554377	0.28877	0	0.573888	0.26702	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	0.345	0.345	0.15249	0.735000	0.25783	-2.951000	0.03199	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.0:0.9998:0.0:2.0E-4	6.444	0.21066	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3601.43	36	chr3	31989575	.	C	T	3601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=1345;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.868;SOR=0.63	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1110	9	0	1	0
chr3	32873854	32873854	A	G	exonic	TRIM71	.	nonsynonymous SNV	TRIM71:NM_001039111:exon2:c.A889G:p.I297V	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	.	0.000798722	0.0018	0.0001	8.657e-05	0	0	1.516e-05	0	0.0148	0.0014618	226	154602	rs530720674	0.0008	0.0008	0.0004	0.0012	0.0129	0.0008	0.0008	0.0123	0.0120	0	0	0	0	0	0.0009	2.88e-05	0.0007	0.0129	0.0004	0.0004	0.0002	0.0006	0.0121	0.0003	0.0003	0.0096	0.0087	2.411e-05	0	0	0	0	0	0	0	0	0.0121	0.271	0.15984	T	0.358	0.17064	T	0.993	0.65571	D	0.987	0.77487	D	0.000001	0.62929	U	0.000000	1	0.81001	D	1.02	0.25474	L	0.96	0.42888	T	-0.57	0.17210	N	0.276	0.31253	-0.9559	0.39934	T	0.171	0.51197	T	10	0.015493184	0.00325	T	.	.	.	0.204	0.49076	0.564	0.68499	0.440933369655	0.43716	0.37916615449894325	0.37831	0.886304860184	0.70013	0.671640992165	0.63071	T	0.082684	0.36884	T	-0.377469	0.03232	T	-0.304597	0.44238	T	0.0950434490508009	0.11803	T	0.832517	0.50110	T	0.11061842	0.26145	0.081068866	0.18393	0.11061842	0.26144	0.081068866	0.18393	-4.924	0.36004	T	.	.	0.179	0.39029	B	.	.	2.447179	0.31507	18.76	0.99643338050678387	0.76819	0.96033	0.67230	D	AEFDGBHCI	0.688586	0.64953	D	0.479129773976413	0.65871	4.877484	0.515321809838017	0.69019	5.301078	1.0	0.98316	0.645754	0.44609	0	0.615948	0.52940	0	0.696144	0.63334	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	5.224000	0.65119	6.990000	0.57158	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.778	0.69366	849	0.35778	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1523.43	41	chr3	32873854	.	A	G	1523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.298;DP=479;ExcessHet=0;FS=0.676;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.111;SOR=0.796	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr3	32890573	32890573	G	A	exonic	TRIM71	.	nonsynonymous SNV	TRIM71:NM_001039111:exon4:c.G1369A:p.D457N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0792771230013	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1209802658	2.052e-06	2.052e-06	1.361e-06	2.751e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.108	0.37589	T	1.0	0.90584	D	0.944	0.68059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.125	0.59049	M	-1.77	0.83660	D	-3.4	0.67014	D	0.692	0.69737	-0.0337	0.81552	T	0.587	0.85180	D	10	0.7646834	0.76612	D	0.079277	0.73198	D	0.405	0.71791	0.345	0.33950	0.787402671178	0.78543	0.8785655446018605	0.87823	1.66104356415	0.89679	0.759981334209	0.75926	T	0.469348	0.80291	T	-0.0280003	0.47707	T	-0.277997	0.47008	T	0.95093560218811	0.63447	D	0.963204	0.86318	D	0.38959444	0.60003	0.29996863	0.56030	0.38959444	0.60003	0.29996863	0.56029	-5.922	0.45622	T	.	.	0.590	0.68483	P	.	.	5.068638	0.84520	28.3	0.99862437762389866	0.94093	0.97882	0.77839	D	AEFDGBCI	0.912611	0.87347	D	0.651407844761498	0.76461	6.490609	0.693813306406944	0.81909	7.638125	1.0	0.98316	0.645754	0.44609	0	0.588015	0.36545	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	5.65	5.65	0.86881	8.058000	0.89254	11.848000	0.97994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.298	0.90094	845	0.36510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1912.43	34	chr3	32890573	.	G	A	1912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.354;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	9	0	1	0
chr3	33051775	33051775	T	C	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_001135602:exon6:c.A545G:p.N182S,GLB1:NM_000404:exon9:c.A938G:p.N313S,GLB1:NM_001079811:exon9:c.A848G:p.N283S,GLB1:NM_001317040:exon10:c.A1082G:p.N361S	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1881717	Mucopolysaccharidosis,_MPS-IV-B|GM1_gangliosidosis	MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582|MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.837	0.238503213061	.	.	8.317e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs781080459	1.368e-06	1.368e-06	0	2.75e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.42199	D	0.046	0.53426	D	0.999	0.77913	D	0.957	0.69900	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-5.24	0.98905	D	-4.25	0.79316	D	0.934	0.93959	1.099	0.99607	D	0.960	0.98707	D	10	0.9799812	0.97948	D	0.238503	0.88590	D	0.837	0.94877	0.947	0.99346	0.997450325136	0.99742	0.9297148710068579	0.92949	0.472138376322	0.46452	0.577498972416	0.49734	T	0.709504	0.91702	D	0.161464	0.70337	D	-0.00584422	0.69957	D	0.956986546516418	0.64895	D	0.952005	0.94289	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.27732	B	.;.;.;.	.;.;.;.	4.197151	0.63305	24.6	0.9986227672858532	0.94093	0.99190	0.92559	D	AEFBI	0.955592	0.97354	D	0.755680592968838	0.83276	7.974788	0.752951828765005	0.86377	8.869797	0.999999999996419	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.71	5.71	0.89031	7.629000	0.82391	7.918000	0.74374	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.650	0.76836	762	0.50290	.;.;Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1364.43	41	chr3	33051775	.	T	C	1364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.442;DP=445;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.298;SOR=0.822	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1203	9	0	1	0
chr3	33093621	33093621	G	A	exonic	TMPPE	.	nonsynonymous SNV	TMPPE:NM_001039770:exon2:c.C575T:p.T192I,TMPPE:NM_001136238:exon2:c.C164T:p.T55I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.00256712409198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	0.22573	T	0.183	0.29153	T	0.087	0.24971	B	0.02	0.19048	B	0.011992	0.29328	N	0.278758	0.938759	0.26855	N	2.08	0.57402	M	.	.	.	-1.8	0.42384	N	0.28	0.34444	-0.9483	0.41263	T	0.142	0.46331	T	9	0.15204555	0.28727	T	0.002567	0.05178	T	0.085	0.24743	0.446	0.50466	0.0920862733494	0.08535	0.32099048826387	0.32012	0.371538377567	0.38651	0.582363128662	0.50418	T	0.182343	0.53432	T	-0.0336177	0.46888	T	-0.286066	0.46181	T	0.268876820802689	0.23699	T	0.692231	0.30167	T	0.11247521	0.26571	0.09512172	0.22545	0.11247521	0.26570	0.09512172	0.22544	-4.823	0.39566	T	.	.	0.179	0.39099	B	.;.	.;.	2.288518	0.29267	18.07	0.93864301649583171	0.23871	0.38874	0.26086	N	AEFBCI	0.156222	0.28154	N	-0.224831335546655	0.32117	1.807897	-0.170162697802872	0.32640	1.859023	0.999998334444427	0.74766	0.651	0.46895	0	0.577304	0.33150	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.87	5.87	0.94266	2.391000	0.44078	8.730000	0.78182	0.676000	0.76740	0.179000	0.24051	1.000000	0.68203	0.189000	0.21571	0.0:0.1443:0.8557:0.0	14.738	0.69047	753	0.51500	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1427.43	34	chr3	33093621	.	G	A	1427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.451;DP=420;ExcessHet=0;FS=3.47;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.11;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	9	0	1	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V,TRANK1:NM_001329998:exon23:c.A8740G:p.I2914V	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.006793	0.005848	0.000000	0.017241	0.015244	0.026515	0.05	1309.43	139	chr3	36829633	.	T	C	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.236;DP=456;ExcessHet=0;FS=1.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.156;SOR=0.555	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	9	0	1	0
chr3	36834907	36834907	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon20:c.A5386G:p.I1796V,TRANK1:NM_001329998:exon21:c.A5518G:p.I1840V	.	417	1095	9	1	0	11	0.00499773	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0005	0.00798722	0.0045	0.0026	0.0010	0.0001	0	1.749e-05	0.0025	0.0310	0.0034217	529	154602	rs147234882	0.0017	0.0017	0.0010	0.0024	0.0265	0.0017	0.0016	0.0256	0.0252	0.0022	0.0005	3.936e-05	7.592e-05	0	0.0005	2.437e-05	0.0022	0.0265	0.0016	0.0016	0.0011	0.0021	0.0294	0.0014	0.0014	0.0255	0.0240	0.0022	0	0.0003	0	0	0	0	1.47e-05	0.0010	0.0294	0.261	0.16520	T	0.822	0.03806	T	0.001	0.07471	B	0.002	0.06944	B	0.000978	0.40836	N	0.171433	1	0.81001	D	-0.345	0.03330	N	1.96	0.22270	T	-0.35	0.12847	N	0.154	0.15888	-1.0461	0.15505	T	0.021	0.09056	T	10	0.0023973286	0.00036	T	0.003522	0.08000	T	0.015	0.02232	.	.	0.137902524267	0.13322	0.07510395822771523	0.07446	0.146701314769	0.16557	0.50045800209	0.38892	T	0.027341	0.20046	T	-0.561897	0.00247	T	-0.558953	0.16475	T	0.00166987179487179	0.00017	T	0.718228	0.33111	T	0.032195624	0.03199	0.041318983	0.04667	0.032195624	0.03198	0.041318983	0.04667	-3.601	0.17871	T	.	.	0.081	0.08320	B	.;.	.;.	1.737764	0.22111	15.49	0.81961478798969534	0.13948	0.76534	0.37543	D	AEFBI	0.211755	0.33751	N	-0.744725493460983	0.14777	0.7389962	-0.542477062809072	0.21005	1.134334	0.101589746274404	0.16384	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.85	2.11	0.26299	1.662000	0.37035	1.884000	0.29472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1922:0.1216:0.6862	6.399	0.20829	693	0.58582	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.05	784.43	41	chr3	36834907	.	T	C	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.725;DP=390;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.145;SOR=0.481	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1263	9	0	1	0
chr3	37020402	37020402	T	C	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001167619:exon10:c.T254C:p.V85A,MLH1:NM_001258273:exon10:c.T254C:p.V85A,MLH1:NM_001354615:exon10:c.T254C:p.V85A,MLH1:NM_001354616:exon10:c.T254C:p.V85A,MLH1:NM_001354629:exon10:c.T878C:p.V293A,MLH1:NM_000249:exon11:c.T977C:p.V326A,MLH1:NM_001167617:exon11:c.T683C:p.V228A,MLH1:NM_001167618:exon11:c.T254C:p.V85A,MLH1:NM_001258271:exon11:c.T977C:p.V326A,MLH1:NM_001354617:exon11:c.T254C:p.V85A,MLH1:NM_001354618:exon11:c.T254C:p.V85A,MLH1:NM_001354620:exon11:c.T683C:p.V228A,MLH1:NM_001354628:exon11:c.T977C:p.V326A,MLH1:NM_001354630:exon11:c.T977C:p.V326A,MLH1:NM_001258274:exon12:c.T254C:p.V85A,MLH1:NM_001354619:exon12:c.T254C:p.V85A	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	YES	51666	Hereditary_nonpolyposis_colorectal_neoplasms|Muir-Torré_syndrome|Lynch_syndrome_1|Lynch_syndrome|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Colorectal_cancer,_non-polyposis|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Breast_and/or_ovarian_cancer	MeSH:D003123,MedGen:C0009405|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MONDO:MONDO:0007356,MedGen:C2936783,OMIM:120435,Orphanet:144|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MedGen:CN221576|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.739	0.0916545602777	0.0008	0.000199681	0.0005	0.0003	0.0003	0	0	0.0005	0.0033	0.0012	0.0004916	76	154602	rs63751049	0.0006	0.0006	0.0005	0.0007	0.0036	0.0006	0.0005	0.0024	0.0020	8.961e-05	0.0003	0	0	1.872e-05	0.0036	0.0006	0.0006	0.0014	0.0004	0.0004	0.0005	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	0.0001	0	6.536e-05	0	0	0	0.0136	0.0007	0	0.0017	0.002	0.91255	D	0.003	0.76473	D	0.62	0.39915	P	0.347	0.42698	B	0.001785	0.37998	N	0.261625	0.999999	0.58761	D	3.35	0.91085	M	-1.69	0.82985	D	-3.89	0.72820	D	0.781	0.77789	0.592	0.91791	D	0.709	0.90006	D	10	0.41998726	0.56798	T	0.091655	0.75747	D	0.856	0.95581	.	.	0.978194983478	0.97795	0.5831469033639415	0.58243	0.171473513557	0.19314	0.645906686783	0.59404	T	0.82378	0.95719	D	0.153688	0.69613	D	0.397545	0.92033	D	0.147231589291505	0.16881	T	0.878312	0.61048	D	0.7073891	0.78463	0.80548286	0.88614	0.7646559	0.81730	0.81967694	0.89518	-10.518	0.79620	D	0.8270670779727851	0.89876	0.578	0.76506	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.963342	0.58142	23.9	0.99811413313362374	0.89531	0.98900	0.88361	D	AEFBI	0.941729	0.94539	D	0.675049932665721	0.77999	6.783748	0.694672481234301	0.81974	7.653682	0.999999999538475	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.640000	0.82502	7.812000	0.69465	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.073	0.80759	224	0.91330	DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;DNA mismatch repair protein,  S5 domain 2-like|DNA mismatch repair protein,  S5 domain 2-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	7947.14	34	chr3	37020402	.	T	C	7947.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.948;DP=1017;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.21;SOR=0.703	GT:AD:DP:GQ:PL	0/1:190,185:375:99:4051,0,4499	8	0	2	0
chr3	37327438	37327438	T	C	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon14:c.T5552C:p.I1851T,GOLGA4:NM_001172713:exon15:c.T5618C:p.I1873T	.	427	1094	1	0	0	1	0.00045683	.	.	.	3974492	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00383674374464	.	.	8.358e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs562115801	1.78e-05	1.779e-05	1.498e-05	2.064e-05	0.0002	1.238e-05	1.052e-05	0.0002	0.0001	0	0	0	2.519e-05	0	0.0002	0	6.63e-05	0.0002	1.972e-05	1.97e-05	0	4.037e-05	0.0004	5.24e-06	2.45e-06	7.282e-05	3.026e-05	0	0	0	0	0.0002	0	0	0	0	0.0004	1.0	0.00964	T	0.309	0.19782	T	0.0	0.02946	B	0.0	0.01387	B	0.571778	0.05484	N	1.321480	1	0.08975	N	0.915	0.23335	L	1.97	0.22067	T	0.48	0.03041	N	0.077	0.12627	-0.9679	0.37632	T	0.050	0.21417	T	10	0.021447092	0.00513	T	0.003837	0.08992	T	0.039	0.10176	0.175	0.08135	0.192905019026	0.18896	0.03690415522511744	0.03637	0.0519918682449	0.05721	0.36184322834	0.19654	T	0.023984	0.18210	T	-0.583424	0.00184	T	-0.779633	0.02464	T	0.00396353409785315	0.00042	T	0.744825	0.36507	T	0.021201158	0.00711	0.037994217	0.03572	0.021201158	0.00710	0.037994217	0.03571	-1.966	0.03055	T	.	.	0.107	0.28464	B	.;.;.	.;.;.	0.595568	0.09641	6.413	0.55934872858805618	0.05446	0.01859	0.05742	N	AEFBI	0.047226	0.07929	N	-0.804647966045599	0.13191	0.6481252	-0.801735504658301	0.14454	0.7552673	0.981272183447033	0.30241	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	0.467	0.15933	-0.145000	0.10248	-0.513000	0.08734	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.926000	0.46234	0.0:0.5801:0.0:0.4199	8.874	0.34490	227	0.91186	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1129.43	33	chr3	37327438	.	T	C	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.326;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-0.562;SOR=0.7	GT:AD:DP:GQ:PL	0/1:59,49:108:99:1141,0,1432	9	0	1	0
chr3	38004328	38004334	GCAGAAG	-	exonic	VILL	.	frameshift deletion	VILL:NM_001370265:exon12:c.1270_1276del:p.A424Wfs*45,VILL:NM_001370264:exon13:c.1369_1375del:p.A457Wfs*45,VILL:NM_001385039:exon16:c.1879_1885del:p.A627Wfs*45,VILL:NM_015873:exon16:c.1879_1885del:p.A627Wfs*45,VILL:NM_001385038:exon17:c.1879_1885del:p.A627Wfs*45	.	419	1101	1	1	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.655e-05	0	0	4.505e-05	0	0.0007	0.0001035	16	154602	rs766909114	2.737e-05	2.941e-05	2.587e-05	2.888e-05	0.0007	2.063e-05	1.816e-05	0.0002	0.0001	0	0	0.0002	0	0	0.0007	4.497e-06	9.937e-05	0.0002	2.625e-05	2.624e-05	2.569e-05	2.684e-05	0.0008	8.13e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1041.39	36	chr3	38004327	.	CGCAGAAG	C	1041.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.29;ReadPosRankSum=0.703;SOR=0.841	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1211	9	0	1	0
chr3	38005835	38005835	C	T	exonic	VILL	.	nonsynonymous SNV	VILL:NM_001370265:exon13:c.C1385T:p.A462V,VILL:NM_001370264:exon14:c.C1484T:p.A495V,VILL:NM_001385039:exon17:c.C1994T:p.A665V,VILL:NM_015873:exon17:c.C1994T:p.A665V,VILL:NM_001385038:exon18:c.C1994T:p.A665V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0402095081419	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372162890	1.232e-05	1.3e-05	1.634e-05	8.255e-06	5.976e-05	7.7e-06	6.35e-06	9.9e-06	5.72e-06	5.976e-05	0	0	0	0	0	1.259e-05	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.61437	D	0.006	0.70582	D	0.997	0.70673	D	0.941	0.67658	D	0.491543	0.12051	N	0.784903	0.99898	0.45816	D	2.715	0.79425	M	1.35	0.34648	T	-3.39	0.66896	D	0.475	0.53093	-0.6349	0.63362	T	0.241	0.60881	T	10	0.5195499	0.62562	D	0.04021	0.59246	D	0.362	0.68230	.	.	0.101711395817	0.09552	0.6408219098700667	0.64017	0.497447347806	0.48245	0.350393533707	0.17978	T	0.165341	0.51115	T	-0.0340333	0.46829	T	-0.286663	0.46118	T	0.977573156356812	0.71909	D	0.683432	0.29175	T	0.30853474	0.53659	0.26806062	0.52670	0.30853474	0.53659	0.26806062	0.52669	-7.644	0.58618	D	.	.	0.130	0.30765	B	.;.;.	.;.;.	2.574107	0.33359	19.32	0.99882947210567463	0.95892	0.96642	0.70171	D	AEFDGBCI	0.691907	0.65175	D	0.470044653731836	0.65348	4.811318	0.349691710722272	0.58490	4.019675	0.999999999999999	0.74766	0.651	0.46895	0	0.53679	0.11191	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	4.43	4.43	0.52967	4.910000	0.63017	0.729000	0.21072	0.596000	0.33519	1.000000	0.71638	0.274000	0.24066	0.198000	0.21837	0.0:1.0:0.0:0.0	17.021	0.86308	586	0.69252	Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	559.43	33	chr3	38005835	.	C	T	559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.43;DP=352;ExcessHet=0;FS=4.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.441;SOR=1.327	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1057	9	0	1	0
chr3	38122294	38122294	G	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_007337:exon36:c.G5026A:p.V1676M,DLEC1:NM_001321153:exon37:c.G5159A:p.S1720N,DLEC1:NM_007335:exon37:c.G5150A:p.S1717N	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	8	1511	3	0	0	3	0.000991736	.	.	.	2827257	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00534805604717	0.0037	0.000399361	0.0022	0.0009	0.0007	0	0.0006	0.0035	0	0.0004	0.0024579	380	154602	rs151322214	0.0043	0.0043	0.0044	0.0042	0.0053	0.0042	0.0042	0.0052	0.0052	0.0007	0.0013	0.0010	0	0.0002	0.0005	0.0053	0.0030	0.0003	0.0028	0.0028	0.0032	0.0023	0.0049	0.0025	0.0025	0.0045	0.0043	0.0009	0.0186	0.0010	0.0009	0	0.0006	0	0.0049	0.0028	0	0.407	0.10245	T	1.0	0.01155	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	0.999993	0.58761	D	.	.	.	3.55	0.04746	T	0.25	0.04456	N	0.044	0.01658	-1.0374	0.18109	T	0.014	0.05608	T	8	0.0027976334	0.00044	T	0.005348	0.13710	T	0.014	0.01968	.	.	0.201204373187	0.19734	0.08908933884244485	0.08841	0.0968419405414	0.10932	.	.	.	0.001873	0.01289	T	-0.373227	0.03434	T	-0.306279	0.44058	T	0.0167101594953269	0.00428	T	0.444056	0.12368	T	0.04836885	0.08419	0.07312443	0.15855	0.04836885	0.08419	0.07312443	0.15855	-4.838	0.35031	T	.	.	0.076	0.05845	B	.	.	-0.420289	0.02138	0.205	0.79210677950195907	0.12639	0.08662	0.14559	N	AEFDBCI	0.041591	0.06344	N	-1.23154435786905	0.04548	0.2055207	-1.3460671426703	0.03852	0.1805493	0.999964445303807	0.48965	0.250623	0.04238	3	0.379588	0.06130	0	0.465395	0.07113	1	0.714379	0.83352	0	.	.	4.86	-5.26	0.02559	0.125000	0.15577	-0.829000	0.07263	-0.133000	0.13014	0.001000	0.13787	0.000000	0.08366	0.110000	0.18741	0.3388:0.408:0.1499:0.1033	3.344	0.06712	553	0.71930	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1381.43	38	chr3	38122294	.	G	A	1381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.805;DP=474;ExcessHet=0;FS=2.149;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.518;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	9	0	1	0
chr3	38274346	38274349	CACC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_456del:p.T152Sfs*61	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	350.39	37	chr3	38274345	.	GCACC	G	350.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.38;DP=541;ExcessHet=0;FS=142.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=2.15;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1301:.	9	0	1	0
chr3	38274348	38274348	C	T	exonic	SLC22A13	.	nonsynonymous SNV	SLC22A13:NM_004256:exon2:c.C455T:p.T152I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.117847334361	.	.	8.237e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs776941043	6.945e-07	6.856e-07	0	1.394e-06	9.158e-07	0	0	.	.	0	0	0	0	0	0	9.158e-07	0	0	6.584e-06	6.572e-06	1.287e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.001	0.83351	D	0.336	0.33356	B	0.197	0.36707	B	0.000041	0.55875	D	0.160393	0.91999	0.27315	N	0.975	0.24501	L	-0.8	0.73845	T	-1.65	0.39503	N	0.224	0.25130	-0.6220	0.63905	T	0.280	0.65199	T	10	0.2761759	0.45178	T	0.117847	0.79773	D	0.169	0.43123	.	.	0.431822907236	0.42802	0.6849680317828866	0.68435	0.093049406823	0.10513	0.307169735432	0.11479	T	0.190123	0.54457	T	-0.226641	0.17095	T	-0.381802	0.35511	T	0.423841953277588	0.29832	T	0.810819	0.46223	T	0.16368291	0.36526	0.17753635	0.40361	0.16368291	0.36526	0.17753635	0.40360	-6.668	0.51569	T	.	.	0.291	0.52235	B	.	.	1.799209	0.22867	15.79	0.95994727687277159	0.28397	0.71306	0.34956	D	AEFBI	0.220876	0.34557	N	-0.564692599331607	0.20025	1.05262	-0.587791459337987	0.19810	1.065	0.996808560441363	0.35023	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	4.2	0.48814	3.549000	0.53431	0.356000	0.17526	-0.187000	0.09635	0.924000	0.32081	0.000000	0.08366	0.064000	0.16252	0.0:0.8541:0.1459:0.0	14.714	0.68872	432	0.80690	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	34.58	37	chr3	38274348	.	C	T	34.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.114;DP=891;ExcessHet=0.2348;FS=142.249;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.07;ReadPosRankSum=1.96;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1301:.	9	0	1	0
chr3	38274348	38274348	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	34.58	37	chr3	38274348	.	C	*	34.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.114;DP=891;ExcessHet=0.2348;FS=142.249;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.07;ReadPosRankSum=1.96;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1301:.	9	0	1	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	360.13	37	chr3	38274349	.	C	CTGGG	360.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.839;DP=761;ExcessHet=0.2348;FS=142.933;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=2.74;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1301:.	9	0	1	0
chr3	38315591	38315591	G	T	exonic	SLC22A14	.	nonsynonymous SNV	SLC22A14:NM_004803:exon8:c.G1412T:p.C471F,SLC22A14:NM_001320033:exon9:c.G1412T:p.C471F	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0344034742967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896508148	1.095e-05	1.163e-05	8.168e-06	1.375e-05	0.0007	6.48e-06	5.24e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.094e-06	3.312e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.594	0.05737	T	0.0	0.92824	D	0.005	0.12996	B	0.005	0.11217	B	0.315093	0.04039	N	2.300680	1	0.08975	N	1.01	0.25309	L	0.01	0.62459	T	-1.48	0.36189	N	0.233	0.26233	-1.0413	0.16921	T	0.126	0.43070	T	10	0.10644123	0.19723	T	0.034403	0.55655	D	0.065	0.18881	0.526	0.63115	0.128392430309	0.12331	0.32279231795511815	0.32192	0.180583987045	0.20310	0.277055263519	0.07085	T	0.052202	0.29096	T	-0.220395	0.17938	T	-0.554358	0.16910	T	0.0295864584381348	0.01926	T	0.358964	0.08219	T	0.057614338	0.11489	0.07181579	0.15420	0.057614338	0.11488	0.07181579	0.15420	-3.266	0.13302	T	.	.	0.067	0.03372	B	.;.	.;.	0.807869	0.11788	8.360	0.92654460050471121	0.22133	0.12446	0.17274	N	AEFBCI	0.095925	0.19373	N	-1.09964151641008	0.06651	0.306735	-1.12709676677832	0.07185	0.3485988	0.103774631293853	0.16456	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.73	0.838	0.18037	1.077000	0.30353	0.388000	0.17857	0.618000	0.50648	0.217000	0.24502	0.710000	0.26286	0.030000	0.13115	0.1106:0.0:0.4934:0.3959	4.431	0.10951	557	0.71576	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1216.43	34	chr3	38315591	.	G	T	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=432;ExcessHet=0;FS=5.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-1.601;SOR=1.259	GT:AD:DP:GQ:PL	0/1:68,51:119:99:1228,0,1628	9	0	1	0
chr3	38752383	38752383	C	T	exonic	SCN10A	.	nonsynonymous SNV	SCN10A:NM_001293306:exon11:c.G1591A:p.E531K,SCN10A:NM_006514:exon11:c.G1591A:p.E531K	Episodic pain syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1411112	Cardiovascular_phenotype|Brugada_syndrome	MedGen:CN230736|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.118187449559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866716316	1.163e-05	1.163e-05	1.225e-05	1.1e-05	0.0002	7.09e-06	5.79e-06	7.42e-06	3.32e-06	0	4.474e-05	0	2.52e-05	1.872e-05	0.0002	8.993e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.17	0.30436	T	0.104	0.25941	B	0.016	0.17743	B	0.926566	0.08450	N	0.969211	1	0.08975	N	2.72	0.79541	M	-3.86	0.95891	D	-2.79	0.59059	D	0.454	0.49146	0.171	0.85420	D	0.779	0.92502	D	10	0.15872595	0.29842	T	0.118187	0.79816	D	0.255	0.56562	0.364	0.37036	0.660803965989	0.65795	0.41069069642407274	0.40985	0.067188620424	0.07511	0.447489082813	0.31601	T	0.459502	0.79706	T	-0.0154105	0.49505	T	-0.0840658	0.64605	T	0.174371615052223	0.18873	T	0.956938	0.83632	D	0.21501797	0.43923	0.16075602	0.37427	0.21501797	0.43923	0.16075602	0.37426	-3.61	0.18002	T	.	.	0.071	0.17016	B	.;.;.;.	.;.;.;.	3.294558	0.45196	22.1	0.99689535192745571	0.79842	0.09399	0.15163	N	AEFBI	0.040840	0.06131	N	-0.474619195573986	0.22915	1.226879	-0.458139719767244	0.23318	1.271004	0.00149586742852304	0.08586	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.86	3.98	0.45383	0.845000	0.27321	3.617000	0.39272	0.599000	0.40250	0.371000	0.25932	0.998000	0.33993	0.930000	0.46718	0.0:0.7458:0.163:0.0912	8.104	0.30037	692	0.58729	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1216.43	36	chr3	38752383	.	C	T	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.622;DP=422;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.39;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	0	1	0
chr3	39066559	39066559	T	G	exonic	WDR48	.	nonsynonymous SNV	WDR48:NM_001303402:exon3:c.T34G:p.S12A,WDR48:NM_001346225:exon4:c.T280G:p.S94A,WDR48:NM_001346226:exon4:c.T109G:p.S37A,WDR48:NM_001346228:exon4:c.T70G:p.S24A,WDR48:NM_020839:exon4:c.T280G:p.S94A	.	424	1097	1	0	0	1	0.000455581	.	.	.	411557	not_provided|Hereditary_spastic_paraplegia|WDR48-related_disorder	MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.594	0.167530243253	0.0037	0.000798722	0.0029	0.0008	0.0055	0.0001	0.0008	0.0040	0.0033	0.0007	0.0030207	467	154602	rs148407227	0.0042	0.0042	0.0043	0.0041	0.0050	0.0041	0.0041	0.0049	0.0049	0.0008	0.0041	0.0003	7.568e-05	0.0011	0.0009	0.0050	0.0033	0.0007	0.0027	0.0027	0.0030	0.0024	0.0046	0.0025	0.0024	0.0042	0.0040	0.0012	0.0011	0.0018	0.0003	0	0.0009	0	0.0046	0.0024	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.55	0.74443	M	-0.76	0.73417	T	-2.95	0.62151	D	0.781	0.77789	0.062	0.83463	D	0.479	0.80083	T	10	0.016314894	0.00344	T	0.16753	0.84587	D	0.594	0.83857	.	.	0.790714886627	0.78876	0.5718591169191949	0.57113	1.96544580235	0.93519	0.819902181625	0.85013	D	0.339527	0.70866	T	-0.0695829	0.41394	T	0.129607	0.78869	D	0.0245267390246492	0.01211	T	0.954805	0.92496	D	0.79652643	0.83684	0.7119788	0.83007	0.79652643	0.83686	0.7119788	0.83008	-9.444	0.70510	D	.	.	0.901	0.82843	P	.;.	.;.	4.846582	0.79174	27.0	0.9934753764267874	0.60452	0.98962	0.89228	D	AEFGBI	0.897865	0.84052	D	0.819610155066899	0.87316	9.176026	0.818249424463514	0.91031	10.68547	0.99999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	7.940000	0.87153	7.879000	0.72397	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.576	0.84532	362	0.84826	WD40 repeat, conserved site|WD40-repeat-containing domain;WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1611.43	93	chr3	39066559	.	T	G	1611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.973;DP=696;ExcessHet=0;FS=3.318;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.729;SOR=0.433	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1086	9	0	1	0
chr3	39143393	39143393	G	A	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon5:c.C1492T:p.L498F,CSRNP1:NM_001320560:exon5:c.C1432T:p.L478F,CSRNP1:NM_033027:exon5:c.C1432T:p.L478F	.	424	1051	45	2	0	49	0.0227801	.	.	.	166006	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	.	0.0051	0.00579073	0.0063	0.0013	0.0030	0.0002	0.0006	0.0063	0.0089	0.0167	0.0062871	972	154602	rs147162469	0.0067	0.0067	0.0063	0.0071	0.0258	0.0066	0.0066	0.0225	0.0212	0.0010	0.0032	0.0160	0.0001	0.0008	0.0258	0.0063	0.0069	0.0188	0.0048	0.0048	0.0049	0.0048	0.0147	0.0045	0.0044	0.0120	0.0109	0.0013	0.0824	0.0033	0.0196	0	0.0004	0.0170	0.0058	0.0066	0.0147	0.168	0.23007	T	0.377	0.16134	T	0.001	0.07471	B	0.003	0.08700	B	0.891722	0.08682	N	0.942455	1	0.08975	N	1.83	0.48079	L	0.87	0.46412	T	-1.18	0.30140	N	0.029	0.00666	-0.9916	0.32193	T	0.057	0.23980	T	10	0.002443254	0.00036	T	.	.	.	0.061	0.17616	.	.	0.171220215726	0.16700	0.08683155020011654	0.08617	0.275595305598	0.30031	0.320648282766	0.13520	T	0.157448	0.50005	T	-0.663042	0.00060	T	-0.710911	0.05248	T	0.00116828457777111	0.00011	T	0.60024	0.22396	T	0.045485523	0.07452	0.049600035	0.07614	0.045485523	0.07451	0.049600035	0.07614	-4.446	0.30176	T	.	.	0.066	0.02257	B	.;.	.;.	1.159448	0.15481	11.88	0.83339099341535916	0.14672	0.08042	0.14018	N	AEFDBHCI	0.097531	0.19669	N	-1.07311803704485	0.07142	0.3308889	-1.09388590543755	0.07820	0.3819119	0.999999053823196	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.37	-1.03	0.09586	0.650000	0.24544	1.896000	0.29550	-0.119000	0.14319	0.093000	0.22645	0.974000	0.29927	0.668000	0.33194	0.2303:0.2771:0.4926:0.0	7.817	0.28427	369	0.84396	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.018649	0.005102	0.014946	0.029240	0.000000	0.025862	0.033537	0.015152	0.05	1044.43	36	chr3	39143393	.	G	A	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.323;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1082	9	0	1	0
chr3	39185299	39185299	C	T	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001351377:exon2:c.G196A:p.G66S,XIRP1:NM_194293:exon2:c.G4147A:p.G1383S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00322029247342	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs200917704	1.71e-05	1.71e-05	9.528e-06	2.475e-05	0.0002	1.174e-05	9.92e-06	0.0002	0.0001	0	0	0	0	0	0.0002	2.698e-06	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.37966	T	0.329	0.44501	T	0.408	0.35000	B	0.058	0.26451	B	0.000082	0.00436	N	13.149900	0.556435	0.32176	D	1.59	0.40313	L	4.01	0.17596	T	-0.73	0.37759	N	0.069	0.10769	-1.0199	0.23747	T	0.039	0.16677	T	10	0.04979822	0.04619	T	0.00322	0.07087	T	0.046	0.12618	0.261	0.20473	0.0666544352282	0.05500	0.08142286624637653	0.08077	0.12612735927	0.14212	0.279167950153	0.07376	T	0.089313	0.38345	T	-0.537349	0.00347	T	-0.717492	0.04917	T	0.0673760048165748	0.08277	T	0.321068	0.06505	T	0.04024011	0.05706	0.053622287	0.09069	0.04024011	0.05706	0.053622287	0.09068	-3.243	0.13013	T	.	.	0.093	0.15385	B	.;.	.;.	1.267956	0.16667	12.69	0.95616588656553902	0.27376	0.03151	0.08114	N	AEFDBI	0.158132	0.28375	N	-0.823085999800999	0.12721	0.6219259	-0.886647563817769	0.12409	0.6381722	0.999978541733127	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.24	2.42	0.28720	0.633000	0.24289	0.507000	0.19047	-0.175000	0.10903	0.030000	0.20431	0.000000	0.08366	0.049000	0.15107	0.0:0.7842:0.0:0.2158	7.316	0.25673	468	0.78227	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1364.43	41	chr3	39185299	.	C	T	1364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.919;DP=480;ExcessHet=0;FS=3.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-1;SOR=0.977	GT:AD:DP:GQ:PL	0/1:84,63:147:99:1376,0,2040	9	0	1	0
chr3	40457954	40457954	A	G	exonic	RPL14	.	nonsynonymous SNV	RPL14:NM_001034996:exon2:c.A68G:p.K23R,RPL14:NM_003973:exon2:c.A68G:p.K23R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0207004158269	0.0002	0.00159744	0.0006	9.61e-05	0.0003	0.0003	0	0.0003	0.0011	0.0025	0.0005498	85	154602	rs35187187	0.0006	0.0006	0.0005	0.0006	0.0026	0.0006	0.0005	0.0023	0.0022	5.974e-05	0.0003	0	0.0002	1.872e-05	0.0002	0.0005	0.0005	0.0026	0.0005	0.0005	0.0004	0.0005	0.0041	0.0004	0.0003	0.0027	0.0023	4.816e-05	0	0.0011	0	0.0010	0	0	0.0004	0.0005	0.0041	0.129	0.26852	T	0.199	0.30436	T	0.941	0.52883	P	0.376	0.43735	B	0.000033	0.55875	U	0.116455	0.999999	0.58761	D	2.06	0.56677	M	0.66	0.52416	T	-2.68	0.59226	D	0.484	0.51851	-1.0330	0.19490	T	0.112	0.40145	T	10	0.014478147	0.00304	T	0.021	0.43346	T	0.160	0.41473	.	.	0.537042168247	0.53356	0.5922857336517233	0.59158	0.445205973666	0.44417	0.811971127987	0.83795	D	0.372343	0.73654	T	-0.353176	0.04530	T	-0.285327	0.46256	T	0.0730689356652979	0.09076	T	0.845515	0.62218	T	0.18263474	0.39492	0.22827223	0.47863	0.18263474	0.39491	0.22827223	0.47862	-7.964	0.60824	D	.	.	0.134	0.29311	B	.;.;.	.;.;.	3.167279	0.42937	21.6	0.99603601874768444	0.74338	0.93915	0.59560	D	AEFDBHCI	0.830216	0.74898	D	0.206926973024637	0.51533	3.333866	0.200176722917898	0.49856	3.18404	0.999999768725362	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.49	3.32	0.37134	5.758000	0.68429	9.117000	0.78826	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.9068:0.0:0.0932:0.0	8.869	0.34461	620	0.66037	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1277.43	38	chr3	40457954	.	A	G	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.02;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-1.066;SOR=0.743	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr3	40462030	40462041	CTGCTGCTGCTG	-	exonic	RPL14	.	nonframeshift deletion	RPL14:NM_001034996:exon6:c.446_457del:p.A156_A159del,RPL14:NM_003973:exon6:c.446_457del:p.A156_A159del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1369704255	0.0011	0.0010	0.0010	0.0011	0.0110	0.0010	0.0010	0.0101	0.0097	0.0038	0.0012	0.0019	0.0110	9.955e-05	0.0041	0.0006	0.0019	0.0012	0.0016	0.0016	0.0013	0.0019	0.0150	0.0014	0.0014	0.0123	0.0113	0.0021	0.0066	0.0008	0.0017	0.0150	9.789e-05	0.0034	0.0006	0.0015	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	18630.1	55	chr3	40462029	.	ACTGCTGCTGCTG	A	18630.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.666;DP=690;ExcessHet=0;FS=1.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.14;MQRankSum=-2.303;QD=31.29;ReadPosRankSum=0.742;SOR=0.711	GT:AD:DP:GQ:PL	0/0:0,0:39:99:1721,1686,1681	9	0	1	0
chr3	40529376	40529376	C	G	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon3:c.C82G:p.L28V,ZNF621:NM_001287245:exon3:c.C82G:p.L28V,ZNF621:NM_198484:exon3:c.C82G:p.L28V	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.010712446936	0.0002	0.000798722	0.0006	0	0	0	0	0.0002	0.0022	0.0032	0.0004851	75	154602	rs376456065	0.0003	0.0003	0.0002	0.0004	0.0027	0.0003	0.0003	0.0024	0.0023	0	0.0002	3.827e-05	0	0	0.0016	0.0001	0.0003	0.0027	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0	0	0	0	0	0.0001	0.0005	0.0033	0.0	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.011179	0.29634	N	0.000000	1	0.81001	D	3.23	0.89537	M	2.2	0.18570	T	-2.35	0.55662	N	0.584	0.76666	-0.7459	0.58149	T	0.213	0.57428	T	10	0.0076625645	0.00174	T	0.010712	0.27557	T	0.299	0.61955	.	.	0.426551566703	0.42274	0.14027445616601236	0.13950	0.730665930578	0.62717	0.406703770161	0.26000	T	0.210593	0.57112	T	-0.380526	0.03092	T	-0.323679	0.42169	T	0.157648595459616	0.17696	T	0.613939	0.25008	T	0.40257168	0.60911	0.42027098	0.65995	0.40257168	0.60911	0.42027098	0.65995	-11.512	0.82393	D	.	.	0.447	0.62048	A	.;.;.;.	.;.;.;.	3.740491	0.53561	23.4	0.99838491595105272	0.91886	0.72643	0.35549	D	AEFBI	0.197623	0.32453	N	0.59922821216595	0.73126	5.91553	0.412644705101181	0.62352	4.449177	0.999709341997196	0.41986	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.46	3.46	0.38718	1.569000	0.36037	2.316000	0.32105	0.594000	0.32500	0.694000	0.28569	0.983000	0.30585	0.959000	0.51448	0.0:1.0:0.0:0.0	13.239	0.59418	734	0.53889	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.05	1366.43	33	chr3	40529376	.	C	G	1366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.264;DP=439;ExcessHet=0;FS=5.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-2.256;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	9	0	1	0
chr3	42184709	42184709	G	A	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001265609:exon3:c.G166A:p.A56T,TRAK1:NM_001265610:exon3:c.G166A:p.A56T,TRAK1:NM_001349248:exon3:c.G166A:p.A56T,TRAK1:NM_001349249:exon3:c.G166A:p.A56T,TRAK1:NM_014965:exon3:c.G214A:p.A72T,TRAK1:NM_001042646:exon4:c.G388A:p.A130T,TRAK1:NM_001265608:exon4:c.G388A:p.A130T,TRAK1:NM_001349245:exon4:c.G76A:p.A26T,TRAK1:NM_001349246:exon4:c.G388A:p.A130T,TRAK1:NM_001349247:exon4:c.G388A:p.A130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.521	0.0577979969922	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs760745873	2.737e-06	3.42e-06	2.723e-06	2.75e-06	2.988e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.988e-05	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.061	0.48080	T	1.0	0.90584	D	1.0	0.97372	D	0.000054	0.53742	D	0.124247	1	0.81001	D	3.055	0.86842	M	1.52	0.30669	T	-3.54	0.69236	D	0.951	0.95956	-0.5528	0.66680	T	0.234	0.60124	T	10	0.8972198	0.89077	D	0.057798	0.67091	D	0.521	0.79643	0.748	0.87905	0.645517457789	0.64258	0.7894359530256794	0.78895	0.887596563285	0.70075	0.823992609978	0.85641	D	0.611559	0.87888	D	0.171393	0.71251	D	0.189946	0.82567	D	0.98124758089291	0.73802	D	0.989657	0.96624	D	0.50085926	0.67145	0.572225	0.75225	0.50085926	0.67146	0.572225	0.75226	-12.306	0.86481	D	.	.	0.971	0.91905	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.543731	0.91987	32	0.99941690953351336	0.99824	0.96405	0.68977	D	AEFGBCIJ	0.917613	0.88548	D	0.92985357690017	0.93144	11.84893	0.873025421009449	0.94287	12.64437	1.0	0.98316	0.730579	0.87903	0	0.702456	0.74545	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	4.97	4.97	0.65419	9.755000	0.98102	11.761000	0.95631	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	17.651	0.88066	824	0.40336	HAP1, N-terminal;HAP1, N-terminal;HAP1, N-terminal;.;HAP1, N-terminal;.;HAP1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1642.43	40	chr3	42184709	.	G	A	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=463;ExcessHet=0;FS=4.991;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=1.44;SOR=1.196	GT:AD:DP:GQ:PL	0/1:40,66:106:99:1654,0,799	9	0	1	0
chr3	42223223	42223223	C	G	exonic	TRAK1	.	nonsynonymous SNV	TRAK1:NM_001349248:exon15:c.C2063G:p.P688R,TRAK1:NM_001349249:exon15:c.C2126G:p.P709R,TRAK1:NM_001042646:exon16:c.C2348G:p.P783R,TRAK1:NM_001349245:exon16:c.C1973G:p.P658R,TRAK1:NM_001349246:exon16:c.C2285G:p.P762R	.	421	1082	19	0	0	19	0.00870362	.	.	.	698084	TRAK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.236	0.0602834960965	0.0032	0.00159744	0.0040	0.0007	0.0016	0	0.0031	0.0055	0.0056	0.0038	0.0038227	591	154602	rs143591096	0.0046	0.0046	0.0046	0.0046	0.0102	0.0045	0.0045	0.0081	0.0074	0.0006	0.0025	0.0099	0	0.0046	0.0102	0.0049	0.0048	0.0037	0.0036	0.0036	0.0034	0.0037	0.0052	0.0033	0.0032	0.0043	0.0041	0.0008	0.0033	0.0052	0.0115	0	0.0044	0.0034	0.0047	0.0028	0.0025	0.105	0.63226	T	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999772	0.48980	D	2.31	0.66127	M	0.64	0.52867	T	-4.18	0.78472	D	0.814	0.84090	-0.6917	0.60829	T	0.181	0.52798	T	10	0.014560461	0.00306	T	0.060283	0.67949	D	0.236	0.53931	.	.	0.814432940858	0.81269	0.6963725277447097	0.69578	0.93105587409	0.71815	0.663438677788	0.61900	T	0.698369	0.91292	D	-0.330531	0.06073	T	-0.246332	0.50178	T	0.0174422847877956	0.00481	T	0.953005	0.82069	D	0.25303912	0.48323	0.21788044	0.46470	0.27379662	0.50446	0.18927023	0.42263	-4.154	0.26082	T	.	.	0.693	0.72675	P	.;.;.	.;.;.	4.327590	0.66282	24.9	0.99842403403797753	0.92229	0.98629	0.84891	D	AEFDBI	0.698973	0.65648	D	0.48861473164218	0.66422	4.948293	0.4323055844489	0.63588	4.595643	0.999999758550495	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	4.45	0.53365	5.890000	0.69515	5.918000	0.51122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.9221:0.0:0.0779	13.001	0.58084	667	0.61242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014602	0.010101	0.019022	0.002924	0.000000	0.025862	0.012195	0.022727	0.05	980.43	35	chr3	42223223	.	C	G	980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.742;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.531;SOR=0.678	GT:AD:DP:GQ:PL	0/1:57,44:101:99:992,0,1440	9	0	1	0
chr3	42397291	42397291	G	A	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon5:c.C415T:p.R139W,LYZL4:NM_144634:exon5:c.C415T:p.R139W	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0002	0.00159744	0.0031	0.0006	0.0016	0	0	0.0003	0	0.0102	0.0009056	140	154602	rs138004276	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	9.279e-05	0.0001	0	8.123e-05	0	0.0028	5.415e-05	0.0005	0.0095	0.0003	0.0003	0.0002	0.0004	0.0071	0.0003	0.0002	0.0052	0.0045	0.0002	0	6.538e-05	0	0	9.429e-05	0	8.82e-05	0.0005	0.0071	0.01	0.56456	D	0.027	0.55341	D	1.0	0.90584	D	0.973	0.72923	D	0.389053	0.13282	N	0.592403	0.77996	0.29344	N	2.87	0.83286	M	0.86	0.46777	T	-2.68	0.57275	D	0.715	0.71765	-0.6997	0.60453	T	0.256	0.62597	T	10	0.013158828	0.00280	T	.	.	.	0.179	0.44899	.	.	0.634904748024	0.63190	0.7144575453191662	0.71388	0.847429405182	0.68384	0.530724227428	0.43136	T	0.092617	0.39041	T	-0.393943	0.02536	T	-0.331684	0.41283	T	0.110055275520833	0.13429	T	0.724828	0.33863	T	0.07667175	0.17355	0.08060356	0.18247	0.07667175	0.17355	0.08060356	0.18247	-5.462	0.41511	T	.	.	0.289	0.52119	B	.;.	.;.	3.219503	0.43859	21.8	0.99827369673458943	0.90939	0.24294	0.22348	N	AEFDBI	0.194999	0.32205	N	0.17852302297527	0.50170	3.20952	0.0242087600576607	0.40842	2.443923	0.990863900237671	0.32294	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	2.89	0.32713	0.348000	0.19784	1.736000	0.28364	0.665000	0.62972	0.333000	0.25615	0.505000	0.25225	0.039000	0.14166	0.0:0.0:0.6126:0.3874	9.423	0.37724	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005097	0.005319	0.002732	0.011834	0.000000	0.000000	0.003086	0.007576	0.05	861.43	38	chr3	42397291	.	G	A	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.344;SOR=0.705	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr3	42407155	42407155	C	T	exonic	LYZL4	.	nonsynonymous SNV	LYZL4:NM_001304386:exon2:c.G97A:p.D33N,LYZL4:NM_144634:exon2:c.G97A:p.D33N	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0284085771074	0.0010	0.000599042	0.0008	0	0.0006	0	0	0.0011	0.0022	0.0010	0.0007956	123	154602	rs147770623	0.0009	0.0009	0.0009	0.0009	0.0021	0.0009	0.0008	0.0012	0.0011	5.974e-05	0.0008	0.0010	0	1.872e-05	0.0021	0.0010	0.0007	0.0014	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0007	0.0007	2.406e-05	0	0.0010	0.0012	0.0002	0	0.0034	0.0009	0	0.0008	0.207	0.19854	T	0.467	0.12351	T	0.874	0.48047	P	0.339	0.42346	B	0.716144	0.06286	N	1.171980	1	0.08975	N	0.965	0.23975	L	-0.34	0.68474	T	-1.29	0.32387	N	0.138	0.14905	-0.9724	0.36691	T	0.110	0.39699	T	10	0.019844532	0.00448	T	0.028409	0.51088	D	0.115	0.32236	.	.	0.53055931775	0.52705	0.5414465447138741	0.54069	0.371415197919	0.38641	0.309662997723	0.11857	T	0.007493	0.06893	T	-0.544158	0.00316	T	-0.567652	0.15665	T	0.0325634409265062	0.02399	T	0.740526	0.35940	T	0.038150117	0.05028	0.038871363	0.03853	0.038150117	0.05028	0.038871363	0.03852	-4.787	0.34440	T	.	.	0.086	0.10931	B	.;.	.;.	1.333518	0.17389	13.14	0.96299959750308783	0.29344	0.01800	0.05617	N	AEFDBI	0.044384	0.07134	N	-0.968900941945484	0.09273	0.4381938	-1.10569621612301	0.07591	0.3698242	0.0181487285619626	0.13026	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.04	-0.13	0.12839	-0.294000	0.08346	0.052000	0.14014	-0.934000	0.02129	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.1617:0.4274:0.3148:0.0962	3.369	0.06794	857	0.34089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1602.43	38	chr3	42407155	.	C	T	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=503;ExcessHet=0;FS=4.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.05;SOR=1.029	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr3	42637080	42637080	T	C	exonic	NKTR	.	nonsynonymous SNV	NKTR:NM_001349124:exon13:c.T1376C:p.I459T,NKTR:NM_005385:exon13:c.T1376C:p.I459T,NKTR:NM_001349125:exon15:c.T617C:p.I206T,NKTR:NM_001349126:exon15:c.T272C:p.I91T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00289098595567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.578	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.797903	0.06751	N	1.091020	1	0.08975	N	1.04	0.26193	L	2.82	0.10871	T	0.32	0.03955	N	0.026	0.02088	-0.9533	0.40398	T	0.016	0.06616	T	10	0.051080167	0.04936	T	0.002891	0.06104	T	0.044	0.11924	0.318	0.29581	0.043077524339	0.03247	0.044061209714319066	0.04350	0.182636527527	0.20529	0.440671503544	0.30668	T	0.018833	0.15112	T	-0.349114	0.04783	T	-0.739254	0.03922	T	0.0993457169052594	0.12285	T	0.60154	0.22486	T	0.048046563	0.08311	0.053824186	0.09140	0.048046563	0.08310	0.053824186	0.09139	-2.846	0.08615	T	.	.	0.110	0.21353	B	.;.	.;.	0.768406	0.11385	7.997	0.58603708594918114	0.06031	0.07460	0.13477	N	AEFBI	0.063228	0.12207	N	-1.06058826062295	0.07381	0.3427204	-1.01715573256436	0.09408	0.4679015	0.99988424441403	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	2.02	0.25641	1.865000	0.39117	0.525000	0.19198	-0.120000	0.14102	0.006000	0.17386	0.000000	0.08366	0.227000	0.22653	0.0:0.2847:0.1586:0.5567	4.631	0.11886	441	0.80015	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	59.43	82	chr3	42637080	.	T	C	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.608;DP=515;ExcessHet=0;FS=143.279;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.957;SOR=7.476	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	9	0	1	0
chr3	42639452	42639452	G	A	exonic	NKTR	.	nonsynonymous SNV	NKTR:NM_001349124:exon13:c.G3748A:p.V1250M,NKTR:NM_005385:exon13:c.G3748A:p.V1250M,NKTR:NM_001349125:exon15:c.G2989A:p.V997M,NKTR:NM_001349126:exon15:c.G2644A:p.V882M	.	.	.	.	.	.	.	.	.	.	.	4037896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00546680406916	0.0002	.	4.121e-05	0.0004	8.639e-05	0	0	0	0	0	3.23e-05	5	154602	rs146446400	1.094e-05	1.094e-05	1.497e-05	6.875e-06	0.0002	6.48e-06	5.24e-06	9.75e-05	6.95e-05	0.0002	4.472e-05	0	5.038e-05	3.744e-05	0	8.993e-07	1.656e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0005	9.736e-05	8.252e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0.0102	0	0	0	0.029	0.45756	D	0.14	0.33554	T	0.102	0.25827	B	0.054	0.25828	B	0.964000	0.08204	N	0.984141	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.09	0.08340	N	0.081	0.05670	-1.0047	0.28547	T	0.012	0.04416	T	10	0.028537393	0.00985	T	0.005467	0.14075	T	0.035	0.08770	.	.	0.082315109003	0.07666	0.10998277987224502	0.10927	0.186972255489	0.21008	0.301775813103	0.10666	T	0.029655	0.21200	T	-0.600131	0.00146	T	-0.769822	0.02774	T	0.0368880033493042	0.03137	T	0.80392	0.46223	T	0.09213608	0.21607	0.055548005	0.09765	0.09213608	0.21607	0.055548005	0.09764	-5.023	0.37089	T	.	.	0.079	0.09239	B	.;.	.;.	0.500051	0.08693	5.464	0.9535818910617414	0.26752	0.10201	0.15773	N	AEFGBCI	0.060400	0.11476	N	-0.787927728991615	0.13623	0.6725082	-0.794509130618677	0.14630	0.765391	0.999912652788678	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.22	1.02	0.19102	-0.246000	0.08896	0.043000	0.13895	-0.732000	0.03721	0.000000	0.06391	0.000000	0.08366	0.664000	0.33081	0.2355:0.1624:0.272:0.3301	0.301	0.00253	385	0.83500	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1107.43	38	chr3	42639452	.	G	A	1107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.008;DP=435;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.456;SOR=0.44	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1255	9	0	1	0
chr3	42688262	42688262	G	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon2:c.G1273A:p.G425S	Nemaline myopathy 8, autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	YES	452605	Inborn_genetic_diseases|Nemaline_myopathy_8|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.093	0.263120535752	0.0008	0.000798722	0.0009	0.0002	0.0012	0.0005	0.0002	0.0013	0.0022	0.0001	0.0009702	150	154602	rs138791086	0.0012	0.0012	0.0012	0.0011	0.0046	0.0011	0.0011	0.0040	0.0038	8.961e-05	0.0013	3.826e-05	0.0046	0.0002	0.0003	0.0012	0.0007	0.0001	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0010	0.0010	0.0003	0	0.0009	0	0.0008	9.427e-05	0	0.0013	0.0028	0.0002	0.373	0.11442	T	0.635	0.07082	T	0.112	0.26290	B	0.032	0.22131	B	0.000504	0.43753	N	0.236285	0.959837	0.38148	D	2.57	0.75187	M	-0.47	0.70133	T	-2.23	0.50012	N	0.266	0.30118	-0.8002	0.55133	T	0.217	0.57915	T	10	0.01951465	0.00437	T	0.263121	0.89587	D	0.093	0.26882	.	.	0.782926529619	0.78092	0.2684683412042599	0.26759	0.0679534120877	0.07611	0.500183582306	0.38853	T	0.198985	0.55614	T	-0.458496	0.01004	T	-0.466752	0.25867	T	0.0208075538961693	0.00780	T	0.649435	0.26018	T	0.13275705	0.30903	0.11937691	0.28815	0.13275705	0.30903	0.11937691	0.28815	-5.145	0.38377	T	.	.	0.074	0.05188	B	.	.	2.479380	0.31973	18.90	0.9877332865759596	0.46002	0.93275	0.57783	D	AEFDGBI	0.501104	0.53408	D	-0.239948414452765	0.31507	1.767325	-0.126247792867109	0.34335	1.973898	0.999977584235953	0.50053	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.99	3.14	0.35196	2.879000	0.48220	3.974000	0.40849	0.586000	0.30580	0.990000	0.36992	0.999000	0.35428	0.804000	0.37906	0.0802:0.1441:0.7757:0.0	9.535	0.38383	358	0.85037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2461.43	35	chr3	42688262	.	G	A	2461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=520;ExcessHet=0;FS=2.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.676;SOR=0.536	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1128	9	0	1	0
chr3	43081193	43081193	C	T	exonic	POMGNT2	.	nonsynonymous SNV	POMGNT2:NM_032806:exon2:c.G239A:p.R80H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	428186	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_8|not_specified|not_provided	MONDO:MONDO:0013904,MedGen:C3553813,OMIM:614830,Orphanet:899|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.523	0.0683729784988	7.7e-05	0.00219649	0.0016	0	0.0010	0	0	0.0003	0.0011	0.0095	0.0013971	216	154602	rs146511234	0.0010	0.0010	0.0007	0.0014	0.0102	0.0010	0.0009	0.0096	0.0094	8.961e-05	0.0004	0.0009	0	0	0.0017	0.0004	0.0010	0.0102	0.0007	0.0007	0.0006	0.0008	0.0097	0.0006	0.0005	0.0075	0.0067	9.62e-05	0	0.0008	0.0012	0	0	0.0068	0.0005	0.0005	0.0097	0.245	0.17410	T	0.096	0.39340	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.245	0.31408	L	-1.13	0.77719	T	-0.83	0.22727	N	0.294	0.33250	-0.0975	0.80155	T	0.543	0.83199	D	10	0.013193697	0.00281	T	0.068373	0.70432	D	0.523	0.79765	.	.	0.810970745285	0.80919	0.6337372634800732	0.63307	0.324009235068	0.34560	0.549831688404	0.45834	T	0.022684	0.17449	T	-0.0681046	0.41629	T	0.137215	0.79364	D	0.0292454005402922	0.01874	T	0.908709	0.67605	D	0.17236485	0.37923	0.13219658	0.31728	0.17561443	0.38429	0.14412016	0.34226	-4.199	0.26737	T	0.08799753225949004	0.05229	0.091	0.13550	B	.;.	.;.	3.263657	0.44646	22.0	0.99584584847473789	0.73218	0.96685	0.70394	D	AEFDBI	0.723811	0.67331	D	0.615708035024157	0.74167	6.086976	0.640756827587087	0.77925	6.773946	0.999999999981156	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.75	5.75	0.90390	4.149000	0.57864	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.930	0.92535	688	0.59122	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.015152	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1573.43	33	chr3	43081193	.	C	T	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=494;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.571;SOR=0.601	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1298	9	0	1	0
chr3	45035591	45035591	C	A	exonic	CLEC3B	.	nonsynonymous SNV	CLEC3B:NM_001308394:exon3:c.C150A:p.H50Q,CLEC3B:NM_003278:exon3:c.C276A:p.H92Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.116377604813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.039	0.51112	D	0.998	0.73220	D	0.983	0.75793	D	0.000000	0.84330	D	0.051541	1	0.81001	D	1.785	0.46417	L	2.31	0.16794	T	-5.84	0.88431	D	0.823	0.81857	-1.1170	0.02531	T	0.078	0.30982	T	10	0.7308731	0.74289	D	0.116378	0.79584	D	0.195	0.47612	0.408	0.44230	0.435699915968	0.43186	0.5056137897410365	0.50483	1.6991376128	0.90257	0.690636754036	0.65798	T	0.315389	0.68700	T	-0.0116751	0.50031	T	-0.254547	0.49367	T	0.995906591415405	0.88288	D	0.766923	0.51656	T	0.9379578	0.95039	0.92396295	0.96676	0.9379578	0.95039	0.92396295	0.96677	-10.258	0.75442	D	.	.	0.732	0.74282	P	.;.	.;.	2.727695	0.35692	19.97	0.99123421885678953	0.53063	0.83308	0.42435	D	AEFDBCI	0.826796	0.74621	D	0.285638102978876	0.55418	3.706074	0.226226242724648	0.51307	3.314391	0.999998155553857	0.74766	0.549168	0.22868	0	0.541168	0.11318	0	0.503968	0.08637	0	0.616125	0.45549	0	.	.	4.53	2.64	0.30504	0.806000	0.26786	-1.949000	0.04448	-0.190000	0.09434	1.000000	0.71638	0.000000	0.08366	0.948000	0.49324	0.0:0.8271:0.0:0.1729	10.598	0.44542	526	0.73951	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1864.43	39	chr3	45035591	.	C	A	1864.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=448;ExcessHet=0;FS=3.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.8;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	9	0	1	0
chr3	45089121	45089121	C	T	exonic	CDCP1	.	nonsynonymous SNV	CDCP1:NM_022842:exon8:c.G2014A:p.A672T	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.012538818012	0.0045	0.000399361	0.0029	0.0011	0.0026	0	0.0003	0.0044	0.0011	0.0010	0.0028525	441	154602	rs144019903	0.0044	0.0044	0.0045	0.0043	0.0048	0.0043	0.0043	0.0047	0.0047	0.0008	0.0020	0.0220	0	0.0005	0.0014	0.0048	0.0055	0.0007	0.0027	0.0027	0.0031	0.0023	0.0035	0.0025	0.0024	0.0032	0.0030	0.0010	0	0.0016	0.0251	0	0.0003	0.0068	0.0035	0.0014	0.0023	0.114	0.28646	T	0.136	0.34009	T	0.212	0.30008	B	0.071	0.27960	B	0.032918	0.24966	N	0.461581	1	0.08975	N	2.56	0.74772	M	0.8	0.48769	T	-2.09	0.47683	N	0.265	0.30004	-1.0593	0.11931	T	0.071	0.29034	T	10	0.0031307042	0.00052	T	0.012539	0.31203	T	0.055	0.15663	.	.	0.257292322809	0.25322	0.5529361181266116	0.55219	0.328850695401	0.34999	0.269393265247	0.06062	T	0.342045	0.71087	T	-0.52918	0.00388	T	-0.530573	0.19230	T	0.0282055079392877	0.01718	T	0.641436	0.25361	T	0.044731393	0.07203	0.07840369	0.17557	0.044731393	0.07202	0.07840369	0.17556	-6.145	0.47477	T	.	.	0.089	0.12323	B	.	.	1.390502	0.18032	13.51	0.92512126831596864	0.21952	0.16521	0.19427	N	AEFDGBCIJ	0.076913	0.15484	N	-1.04348857157233	0.07716	0.3593939	-1.06746835915772	0.08346	0.4100008	0.999991765901964	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	5.7	1.95	0.25130	0.891000	0.27944	0.112000	0.14796	-0.172000	0.11096	0.013000	0.18845	0.002000	0.18203	0.003000	0.05239	0.0:0.7637:0.0:0.2363	12.849	0.57230	567	0.70732	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1002.43	34	chr3	45089121	.	C	T	1002.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.695;DP=422;ExcessHet=0;FS=2.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.448;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1160	9	0	1	0
chr3	45595726	45595726	G	A	exonic	LIMD1	.	nonsynonymous SNV	LIMD1:NM_014240:exon1:c.G847A:p.G283R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0436449696286	.	.	8.263e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs749761214	1.3e-05	1.3e-05	1.77e-05	8.251e-06	1.529e-05	8.31e-06	6.7e-06	9.31e-06	7.61e-06	0	0	0	0	1.876e-05	0	1.529e-05	1.656e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.004	0.65419	D	0.306	0.23776	T	0.89	0.48942	P	0.207	0.37187	B	0.486624	0.05012	N	1.306860	0.99912	0.21598	N	1.845	0.48678	L	0.35	0.58029	T	-2.56	0.55339	D	0.346	0.48596	-0.8646	0.50930	T	0.128	0.43544	T	10	0.2468836	0.41960	T	0.043645	0.61090	D	0.105	0.29889	0.297	0.26202	0.636843794314	0.63386	0.20095916356719698	0.20012	0.609113261058	0.55654	0.436773687601	0.30137	T	0.23239	0.59894	T	-0.0901516	0.38052	T	-0.351787	0.39000	T	0.830394268035889	0.48561	D	0.622538	0.23960	T	0.15543929	0.35131	0.19518156	0.43180	0.15543929	0.35131	0.19518156	0.43179	-3.228	0.12826	T	.	.	0.243	0.47762	B	.;.	.;.	4.354279	0.66909	25.0	0.99896007940269582	0.96895	0.69734	0.34306	D	AEFDGBCI	0.274572	0.38973	N	0.112380482910732	0.47040	2.935346	0.162499085963009	0.47808	3.005531	0.999999998997676	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.92	4.92	0.64147	3.484000	0.52965	8.549000	0.77521	0.676000	0.76740	0.588000	0.27650	1.000000	0.68203	0.063000	0.16184	0.0:0.0:1.0:0.0	16.340	0.82912	607	0.67291	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1852.43	44	chr3	45595726	.	G	A	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=582;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-0.243;SOR=0.488	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr3	46408399	46408399	T	C	exonic	CCRL2	.	nonsynonymous SNV	CCRL2:NM_001130910:exon2:c.T356C:p.I119T,CCRL2:NM_003965:exon2:c.T320C:p.I107T	.	.	.	.	.	.	.	.	.	.	.	2282048	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00832224925878	0.0002	.	9.108e-05	0.0002	8.639e-05	0	0	8.99e-05	0	0.0001	0.00011	17	154602	rs200793737	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	9.415e-05	0.0009	0.0008	0.0012	4.472e-05	0.0001	0.0001	0	0.0014	8.184e-05	0.0002	4.637e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.159e-05	6.717e-05	0.0001	7.893e-05	0.0001	0	0	0	0.0002	0	0	0.0002	0	0	0.2	0.20683	T	0.526	0.10245	T	0.054	0.22658	B	0.039	0.23607	B	0.844996	0.09005	N	0.916092	1	0.08975	N	-1.33	0.00679	N	1.2	0.37405	T	1.45	0.00785	N	0.028	0.00618	-0.9664	0.37934	T	0.026	0.11087	T	10	0.039240986	0.02400	T	0.008322	0.22029	T	0.061	0.17616	.	.	0.0482279557977	0.04254	0.0957041588496537	0.09502	0.0383544989029	0.04084	0.23479783535	0.02341	T	0.016717	0.13762	T	-0.380027	0.03115	T	-0.54699	0.17616	T	0.0195804809608441	0.00661	T	0.232977	0.03169	T	0.040417455	0.05764	0.048920482	0.07368	0.040417455	0.05764	0.048920482	0.07367	-1.243	0.01865	T	.	.	0.065	0.11989	B	.;.;.;.;.	.;.;.;.;.	-0.798267	0.01110	0.050	0.4307310315205839	0.03218	0.05196	0.11019	N	AEFDBCI	0.078347	0.15806	N	-1.70017570077268	0.00841	0.03637723	-1.69768217648131	0.01147	0.05161847	0.999999036511266	0.74766	0.50284	0.20314	0	0.588066	0.40923	0	0.547309	0.15389	0	0.654926	0.60358	0	.	.	5.24	-5.19	0.02616	-1.122000	0.03378	-1.631000	0.05024	-2.806000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1404:0.6546:0.0:0.205	9.481	0.38062	423	0.81269	GPCR, rhodopsin-like, 7TM;.;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1549.43	33	chr3	46408399	.	T	C	1549.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=482;ExcessHet=0;FS=4.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.498;SOR=1.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1180	9	0	1	0
chr3	46446446	46446446	C	T	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon11:c.G1219A:p.V407M,LTF:NM_001321121:exon11:c.G1345A:p.V449M,LTF:NM_002343:exon11:c.G1351A:p.V451M,LTF:NM_001321122:exon14:c.G1312A:p.V438M	.	427	1036	57	2	0	61	0.0285982	.	.	.	708874	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.083	.	0.0072	0.00419329	0.0084	0.0022	0.0059	0	0.0006	0.0084	0.0110	0.0217	0.007846	1213	154602	rs61739313	0.0078	0.0078	0.0072	0.0084	0.0253	0.0077	0.0076	0.0220	0.0210	0.0009	0.0051	0.0172	7.56e-05	0.0007	0.0253	0.0072	0.0085	0.0221	0.0050	0.0050	0.0053	0.0048	0.0174	0.0047	0.0046	0.0144	0.0133	0.0013	0	0.0039	0.0190	0.0002	0.0007	0.0306	0.0068	0.0104	0.0174	0.034	0.46129	D	0.129	0.36101	T	0.791	0.67487	P	0.34	0.63213	B	0.000015	0.00162	N	6.968180	1	0.08975	N	1.725	0.44537	L	3.21	0.07125	T	-0.78	0.22944	N	0.166	0.17691	-0.9927	0.31906	T	0.023	0.09604	T	10	0.0039860904	0.00077	T	.	.	.	0.083	0.24192	.	.	0.126345400529	0.12197	0.34706130118152995	0.34620	0.124778172504	0.14054	0.258332192898	0.04694	T	0.083964	0.37173	T	-0.653136	0.00069	T	-0.694704	0.06119	T	0.0155953161609467	0.00356	T	0.146985	0.01214	T	0.14808123	0.33823	0.10696175	0.25742	0.14808123	0.33823	0.10696175	0.25742	-4.658	0.33246	T	.	.	0.112	0.28116	B	.;.;.;.	.;.;.;.	0.365685	0.07381	4.005	0.98318891806542186	0.40222	0.00740	0.03091	N	AEFDGBHI	0.038641	0.05498	N	-0.703131132027061	0.15934	0.8074205	-0.893101611508219	0.12256	0.6294228	0.999592495529945	0.40745	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.41	-5.27	0.02551	-1.816000	0.01814	-2.291000	0.03942	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.2332:0.2655:0.3335:0.1678	1.597	0.02505	422	0.81333	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013595	0.000000	0.006793	0.017544	0.000000	0.017241	0.036585	0.015152	0.05	835.43	38	chr3	46446446	.	C	T	835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.626;DP=421;ExcessHet=0;FS=0.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.245;SOR=0.795	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1204	9	0	1	0
chr3	46498111	46498111	C	T	exonic	RTP3	.	nonsynonymous SNV	RTP3:NM_031440:exon1:c.C49T:p.R17W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00614511048174	.	.	3.307e-05	0	0	0	0	1.504e-05	0	0.0002	2.59e-05	4	154602	rs752009052	2.257e-05	2.257e-05	1.906e-05	2.613e-05	0.0003	1.61e-05	1.416e-05	0.0002	0.0001	0	0	3.826e-05	0	0	0.0002	6.295e-06	3.311e-05	0.0003	6.573e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.007	0.69154	D	0.178	0.28960	B	0.012	0.16012	B	0.518255	0.05187	N	1.277970	1	0.08975	N	1.04	0.26193	L	2.15	0.19311	T	-3.54	0.68651	D	0.263	0.29774	-1.0231	0.22704	T	0.036	0.15553	T	10	0.080756396	0.13143	T	0.006145	0.16082	T	0.042	0.11227	0.315	0.29096	0.204665344411	0.20097	0.29318099961901056	0.29231	0.207412736444	0.23197	0.191439449787	0.00251	T	0.144446	0.48107	T	-0.39421	0.02527	T	-0.507839	0.21537	T	0.3056143310809	0.25234	T	0.649435	0.26018	T	0.16530764	0.36793	0.2027248	0.44315	0.16530764	0.36793	0.2027248	0.44314	-5.648	0.43228	T	.	.	0.110	0.21087	B	.	.	2.728729	0.35709	19.97	0.9835939200133772	0.40628	0.02554	0.07084	N	AEFDBI	0.130373	0.24890	N	-0.729158487466303	0.15205	0.7642789	-0.752421094514861	0.15662	0.8248758	0.999977079485454	0.50053	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	2.61	0.30255	0.609000	0.23935	2.350000	0.32308	0.599000	0.40250	0.000000	0.06391	0.014000	0.20376	0.019000	0.11356	0.352:0.477:0.171:0.0	6.836	0.23120	435	0.80441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	852.43	81	chr3	46498111	.	C	T	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.873;DP=433;ExcessHet=0;FS=7.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=2.29;SOR=0.252	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr3	46858411	46858411	C	T	exonic	MYL3	.	nonsynonymous SNV	MYL3:NM_000258:exon5:c.G532A:p.D178N	Cardiomyopathy, hypertrophic, 8	0	1520	2	0	0	2	0.000657462	.	.	.	52298	Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_8|Hypertrophic_cardiomyopathy|Cardiomyopathy|not_specified|not_provided	MedGen:CN230736|MONDO:MONDO:0012111,MedGen:C1837471,OMIM:608751|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.709	0.2201771311	7.7e-05	0.000399361	0.0003	0	8.643e-05	0	0	8.997e-05	0	0.0015	0.0002264	35	154602	rs145520567	0.0001	0.0001	5.99e-05	0.0002	0.0016	0.0001	0.0001	0.0013	0.0013	0	0	0	0	0	0.0005	2.518e-05	0.0002	0.0016	8.537e-05	8.531e-05	7.711e-05	9.4e-05	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	2.407e-05	0	0	0	0	0	0	2.941e-05	0	0.0021	0.011	0.55530	D	0.051	0.47828	T	0.983	0.60381	D	0.483	0.47159	P	0.000001	0.62929	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.52	0.81478	D	-4.26	0.76174	D	0.853	0.84922	0.261	0.86929	D	0.533	0.82714	D	10	0.3612776	0.52752	T	0.220177	0.87744	D	0.709	0.89605	.	.	0.869866588769	0.86860	0.6067735504588467	0.60608	0.924009153585	0.71568	0.776091217995	0.78339	T	0.74897	0.93106	D	-0.252559	0.13787	T	-0.170938	0.57358	T	0.431182354688644	0.30104	T	0.951105	0.81346	D	0.6151212	0.73502	0.4172226	0.65783	0.6151212	0.73503	0.4172226	0.65783	-11.386	0.81732	D	0.5976635823013203	0.66457	0.763	0.75617	P	.;.	.;.	4.909294	0.80764	27.4	0.99914874074217275	0.98309	0.98825	0.87349	D	AEFBI	0.975985	0.99649	D	0.612990837167797	0.73993	6.058093	0.560821823494333	0.72152	5.765209	0.999999999750409	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	3.77	3.77	0.42499	7.722000	0.83741	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.478	0.60772	140	0.94439	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1240.43	37	chr3	46858411	.	C	T	1240.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=441;ExcessHet=0;FS=1.555;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=2.18;SOR=0.892	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr3	47124022	47124022	G	A	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.C482T:p.P161L,SETD2:NM_014159:exon3:c.C614T:p.P205L	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.072020760523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.974	0.57829	D	0.601	0.50808	P	.	.	.	.	0.904634	0.36256	D	1.04	0.26193	L	-2.61	0.89953	D	-2.54	0.90215	D	0.252	0.28498	0.158	0.85189	D	0.520	0.82057	D	9	0.27579433	0.45139	T	0.072021	0.71423	D	0.304	0.62510	0.096	0.01287	0.678572320616	0.67583	0.380527710447365	0.37967	0.268336896757	0.29355	0.367448568344	0.20465	T	0.181619	0.53336	T	0.12736	0.67103	D	-0.0548325	0.66692	D	0.563996195793152	0.35007	D	0.859714	0.55187	D	0.104827076	0.24783	0.20234323	0.44257	0.104827076	0.24782	0.20234323	0.44256	-4.774	0.34286	T	.	.	0.092	0.15520	B	.;.	.;.	3.777773	0.54301	23.5	0.9984588495272807	0.92576	0.96514	0.69520	D	AEFBI	0.468030	0.51500	N	0.352549473157512	0.58873	4.062451	0.42364083222302	0.63042	4.530253	0.999346639450027	0.39222	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	4.830000	0.62434	9.785000	0.81617	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.1461:0.7031:0.1508	10.157	0.42004	13	0.98894	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1810.43	41	chr3	47124022	.	G	A	1810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.732;DP=475;ExcessHet=0;FS=7.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=2.11;SOR=1.143	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr3	47852796	47852796	T	C	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384681:exon17:c.A3281G:p.H1094R,MAP4:NM_001134364:exon18:c.A3404G:p.H1135R,MAP4:NM_001384756:exon18:c.A3359G:p.H1120R	.	405	1081	36	0	0	36	0.0163785	.	.	.	3192442	not_provided|MAP4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.00479233	0.0113	0	0	0	0	0.0152	0.0068	0.0110	0.003564	551	154602	rs111679040	0.0094	0.0093	0.0092	0.0097	0.0097	0.0093	0.0092	0.0095	0.0095	0.0011	0.0060	0.0118	0	0.0204	0.0071	0.0097	0.0082	0.0089	0.0082	0.0082	0.0080	0.0085	0.0114	0.0079	0.0077	0.0108	0.0105	0.0018	0	0.0024	0.0170	0	0.0231	0.0034	0.0114	0.0076	0.0098	0.0	0.91255	D	0.0	0.92824	D	0.531	0.37720	P	0.259	0.39405	B	.	.	.	.	0.999879	0.50225	D	.	.	.	3.29	0.17923	T	-0.45	0.23590	N	0.096	0.07673	-1.0327	0.19586	T	0.041	0.17785	T	8	0.0052310526	0.00114	T	.	.	.	0.028	0.06331	.	.	0.193917141947	0.19028	.	.	.	.	.	.	.	.	.	.	-0.593386	0.00160	T	-0.614103	0.11654	T	0.0249871233804927	0.01270	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-2.603	0.06526	T	.	.	0.079	0.07697	B	.;.;.	.;.;.	1.295537	0.16970	12.88	0.92835641010340864	0.22369	0.41037	0.26569	N	AEFDBCI	0.165662	0.29218	N	-0.347229933997549	0.27374	1.501369	-0.352104349766838	0.26444	1.460669	0.999973800261198	0.50053	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.94	-2.3	0.06399	-0.138000	0.10353	0.817000	0.21810	0.651000	0.53179	0.935000	0.32453	1.000000	0.68203	0.968000	0.53726	0.3848:0.0:0.392:0.2232	5.913	0.18279	9	0.99126	.;.;.	.	.	.	.	rs111679040	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005233	0.005319	0.005034	0.000000	0.000000	0.010204	0.003497	0.017391	0.05	277.43	18	chr3	47852796	.	T	C	277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=261;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=1.34;SOR=0.446	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,905	9	0	1	0
chr3	47867325	47867325	G	A	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon11:c.C1403T:p.S468F,MAP4:NM_001384680:exon12:c.C2681T:p.S894F,MAP4:NM_001384802:exon12:c.C1517T:p.S506F,MAP4:NM_001384808:exon12:c.C1517T:p.S506F,MAP4:NM_001384826:exon12:c.C2534T:p.S845F,MAP4:NM_001384842:exon12:c.C2534T:p.S845F,MAP4:NM_001385676:exon12:c.C2579T:p.S860F,MAP4:NM_001384746:exon13:c.C2750T:p.S917F,MAP4:NM_001384753:exon13:c.C2675T:p.S892F,MAP4:NM_001384780:exon13:c.C2702T:p.S901F,MAP4:NM_001384786:exon13:c.C2804T:p.S935F,MAP4:NM_001384806:exon13:c.C2750T:p.S917F,MAP4:NM_001384828:exon13:c.C2804T:p.S935F,MAP4:NM_001384840:exon13:c.C2657T:p.S886F,MAP4:NM_001384843:exon13:c.C2750T:p.S917F,MAP4:NM_001384851:exon13:c.C2657T:p.S886F,MAP4:NM_001384853:exon13:c.C2705T:p.S902F,MAP4:NM_001384864:exon13:c.C2795T:p.S932F,MAP4:NM_001384866:exon13:c.C2648T:p.S883F,MAP4:NM_001384870:exon13:c.C2657T:p.S886F,MAP4:NM_001384877:exon13:c.C1640T:p.S547F,MAP4:NM_001384681:exon14:c.C2864T:p.S955F,MAP4:NM_001384707:exon14:c.C2789T:p.S930F,MAP4:NM_001384730:exon14:c.C2918T:p.S973F,MAP4:NM_001384734:exon14:c.C2873T:p.S958F,MAP4:NM_001384776:exon14:c.C2816T:p.S939F,MAP4:NM_001384779:exon14:c.C2771T:p.S924F,MAP4:NM_001384782:exon14:c.C2873T:p.S958F,MAP4:NM_001384794:exon14:c.C2708T:p.S903F,MAP4:NM_001384804:exon14:c.C2747T:p.S916F,MAP4:NM_001384813:exon14:c.C1685T:p.S562F,MAP4:NM_001384814:exon14:c.C2873T:p.S958F,MAP4:NM_001384816:exon14:c.C2918T:p.S973F,MAP4:NM_001384824:exon14:c.C2798T:p.S933F,MAP4:NM_001384831:exon14:c.C2726T:p.S909F,MAP4:NM_001384832:exon14:c.C2873T:p.S958F,MAP4:NM_001384836:exon14:c.C2864T:p.S955F,MAP4:NM_001384837:exon14:c.C2819T:p.S940F,MAP4:NM_001384839:exon14:c.C2666T:p.S889F,MAP4:NM_001384845:exon14:c.C2621T:p.S874F,MAP4:NM_001384846:exon14:c.C2828T:p.S943F,MAP4:NM_001384847:exon14:c.C2771T:p.S924F,MAP4:NM_001384850:exon14:c.C2789T:p.S930F,MAP4:NM_001384867:exon14:c.C2666T:p.S889F,MAP4:NM_001384868:exon14:c.C2864T:p.S955F,MAP4:NM_001384874:exon14:c.C2783T:p.S928F,MAP4:NM_001384876:exon14:c.C2873T:p.S958F,MAP4:NM_001385664:exon14:c.C6188T:p.S2063F,MAP4:NM_001385677:exon14:c.C2873T:p.S958F,MAP4:NM_001385684:exon14:c.C2828T:p.S943F,MAP4:NM_001385685:exon14:c.C2771T:p.S924F,MAP4:NM_001134364:exon15:c.C2987T:p.S996F,MAP4:NM_001384676:exon15:c.C2942T:p.S981F,MAP4:NM_001384737:exon15:c.C2912T:p.S971F,MAP4:NM_001384744:exon15:c.C2915T:p.S972F,MAP4:NM_001384756:exon15:c.C2942T:p.S981F,MAP4:NM_001384774:exon15:c.C2942T:p.S981F,MAP4:NM_001384778:exon15:c.C2354T:p.S785F,MAP4:NM_001384791:exon15:c.C2915T:p.S972F,MAP4:NM_001384796:exon15:c.C2924T:p.S975F,MAP4:NM_001384797:exon15:c.C2870T:p.S957F,MAP4:NM_001384798:exon15:c.C2987T:p.S996F,MAP4:NM_001384820:exon15:c.C2912T:p.S971F,MAP4:NM_001384834:exon15:c.C2897T:p.S966F,MAP4:NM_001384838:exon15:c.C2960T:p.S987F,MAP4:NM_001384849:exon15:c.C2948T:p.S983F,MAP4:NM_001384871:exon15:c.C2915T:p.S972F,MAP4:NM_001384873:exon15:c.C2909T:p.S970F,MAP4:NM_001384879:exon15:c.C2987T:p.S996F,MAP4:NM_001384892:exon15:c.C2897T:p.S966F,MAP4:NM_001385665:exon15:c.C2987T:p.S996F,MAP4:NM_001385675:exon15:c.C2909T:p.S970F,MAP4:NM_001385681:exon15:c.C2924T:p.S975F,MAP4:NM_002375:exon15:c.C2987T:p.S996F,MAP4:NM_001384679:exon16:c.C2993T:p.S998F,MAP4:NM_001384731:exon16:c.C2993T:p.S998F,MAP4:NM_001384736:exon16:c.C3038T:p.S1013F,MAP4:NM_001384738:exon16:c.C3023T:p.S1008F,MAP4:NM_001384748:exon16:c.C3023T:p.S1008F,MAP4:NM_001384788:exon16:c.C3038T:p.S1013F,MAP4:NM_001384875:exon16:c.C2978T:p.S993F,MAP4:NM_001385686:exon16:c.C3038T:p.S1013F,MAP4:NM_001385688:exon16:c.C6191T:p.S2064F,MAP4:NM_001385689:exon16:c.C6308T:p.S2103F,MAP4:NM_001384729:exon17:c.C2987T:p.S996F,MAP4:NM_001384745:exon17:c.C3074T:p.S1025F,MAP4:NM_001384795:exon17:c.C3074T:p.S1025F,MAP4:NM_001385682:exon17:c.C6422T:p.S2141F,MAP4:NM_001385687:exon17:c.C6422T:p.S2141F	.	428	1074	17	3	0	23	0.0105942	.	.	.	3210110	not_provided|MAP4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.672	0.295561311245	0.0032	0.00179712	0.0031	0.0009	0.0029	0	0.0006	0.0045	0.0033	0.0019	0.0032276	499	154602	rs150907099	0.0045	0.0045	0.0044	0.0045	0.0053	0.0044	0.0043	0.0052	0.0052	0.0006	0.0031	0.0007	2.519e-05	0.0004	0.0031	0.0053	0.0045	0.0016	0.0034	0.0034	0.0033	0.0035	0.0054	0.0032	0.0031	0.0048	0.0046	0.0010	0.0143	0.0054	0.0006	0.0002	0.0004	0	0.0052	0.0052	0.0019	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	1.665	0.42610	L	-3.48	0.94584	D	-4.37	0.79482	D	0.484	0.69825	0.339	0.88170	D	0.820	0.93952	D	9	0.011303484	0.00248	T	0.295561	0.90710	D	0.672	0.87868	.	.	0.616639467345	0.61354	0.6311990139498651	0.63053	0.517218207095	0.49593	0.640708565712	0.58665	T	0.739265	0.93866	D	-0.126497	0.32064	T	0.052058	0.73719	D	0.0389167667814701	0.03495	T	0.972478	0.90093	D	0.48620215	0.66275	0.563218	0.74723	0.48620215	0.66276	0.563218	0.74724	-14.682	0.96504	D	.	.	0.796	0.80786	P	.;.;.;.;.	.;.;.;.;.	5.382233	0.90195	31	0.99838993567598544	0.91972	0.95999	0.67077	D	AEFBI	0.497048	0.53173	N	0.622024777006955	0.74568	6.155068	0.603569509033206	0.75198	6.268456	0.999941365784735	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.18	4.29	0.50359	4.186000	0.58135	9.893000	0.82289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0817:0.0:0.9183:0.0	12.216	0.53716	9	0.99126	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	602.43	33	chr3	47867325	.	G	A	602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=387;ExcessHet=0;FS=3.27;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=-0.403;SOR=1.123	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr3	47870943	47870943	G	A	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001384817:exon9:c.C1190T:p.S397L,MAP4:NM_001384835:exon9:c.C1043T:p.S348L,MAP4:NM_001384680:exon10:c.C2423T:p.S808L,MAP4:NM_001384802:exon10:c.C1259T:p.S420L,MAP4:NM_001384808:exon10:c.C1259T:p.S420L,MAP4:NM_001384812:exon10:c.C1259T:p.S420L,MAP4:NM_001384815:exon10:c.C1259T:p.S420L,MAP4:NM_001384842:exon10:c.C2276T:p.S759L,MAP4:NM_001385676:exon10:c.C2321T:p.S774L,MAP4:NM_001384746:exon11:c.C2537T:p.S846L,MAP4:NM_001384753:exon11:c.C2462T:p.S821L,MAP4:NM_001384757:exon11:c.C2537T:p.S846L,MAP4:NM_001384760:exon11:c.C2390T:p.S797L,MAP4:NM_001384780:exon11:c.C2444T:p.S815L,MAP4:NM_001384784:exon11:c.C1289T:p.S430L,MAP4:NM_001384787:exon11:c.C2444T:p.S815L,MAP4:NM_001384803:exon11:c.C2492T:p.S831L,MAP4:NM_001384805:exon11:c.C2390T:p.S797L,MAP4:NM_001384807:exon11:c.C2492T:p.S831L,MAP4:NM_001384811:exon11:c.C2444T:p.S815L,MAP4:NM_001384826:exon11:c.C2390T:p.S797L,MAP4:NM_001384843:exon11:c.C2492T:p.S831L,MAP4:NM_001384851:exon11:c.C2399T:p.S800L,MAP4:NM_001384862:exon11:c.C2210T:p.S737L,MAP4:NM_001384864:exon11:c.C2537T:p.S846L,MAP4:NM_001384866:exon11:c.C2390T:p.S797L,MAP4:NM_001384877:exon11:c.C1382T:p.S461L,MAP4:NM_001384675:exon12:c.C2606T:p.S869L,MAP4:NM_001384681:exon12:c.C2606T:p.S869L,MAP4:NM_001384707:exon12:c.C2531T:p.S844L,MAP4:NM_001384730:exon12:c.C2660T:p.S887L,MAP4:NM_001384752:exon12:c.C2513T:p.S838L,MAP4:NM_001384755:exon12:c.C2606T:p.S869L,MAP4:NM_001384758:exon12:c.C2615T:p.S872L,MAP4:NM_001384759:exon12:c.C2531T:p.S844L,MAP4:NM_001384762:exon12:c.C1505T:p.S502L,MAP4:NM_001384776:exon12:c.C2615T:p.S872L,MAP4:NM_001384777:exon12:c.C2660T:p.S887L,MAP4:NM_001384779:exon12:c.C2513T:p.S838L,MAP4:NM_001384782:exon12:c.C2660T:p.S887L,MAP4:NM_001384783:exon12:c.C2660T:p.S887L,MAP4:NM_001384785:exon12:c.C2513T:p.S838L,MAP4:NM_001384786:exon12:c.C2660T:p.S887L,MAP4:NM_001384789:exon12:c.C2441T:p.S814L,MAP4:NM_001384804:exon12:c.C2534T:p.S845L,MAP4:NM_001384806:exon12:c.C2606T:p.S869L,MAP4:NM_001384809:exon12:c.C2513T:p.S838L,MAP4:NM_001384813:exon12:c.C1427T:p.S476L,MAP4:NM_001384816:exon12:c.C2660T:p.S887L,MAP4:NM_001384825:exon12:c.C2615T:p.S872L,MAP4:NM_001384828:exon12:c.C2660T:p.S887L,MAP4:NM_001384831:exon12:c.C2513T:p.S838L,MAP4:NM_001384832:exon12:c.C2615T:p.S872L,MAP4:NM_001384836:exon12:c.C2606T:p.S869L,MAP4:NM_001384837:exon12:c.C2606T:p.S869L,MAP4:NM_001384839:exon12:c.C2408T:p.S803L,MAP4:NM_001384840:exon12:c.C2513T:p.S838L,MAP4:NM_001384841:exon12:c.C2615T:p.S872L,MAP4:NM_001384844:exon12:c.C2513T:p.S838L,MAP4:NM_001384845:exon12:c.C2408T:p.S803L,MAP4:NM_001384847:exon12:c.C2513T:p.S838L,MAP4:NM_001384850:exon12:c.C2531T:p.S844L,MAP4:NM_001384853:exon12:c.C2606T:p.S869L,MAP4:NM_001384857:exon12:c.C2660T:p.S887L,MAP4:NM_001384861:exon12:c.C2513T:p.S838L,MAP4:NM_001384867:exon12:c.C2408T:p.S803L,MAP4:NM_001384868:exon12:c.C2606T:p.S869L,MAP4:NM_001384869:exon12:c.C2660T:p.S887L,MAP4:NM_001384870:exon12:c.C2513T:p.S838L,MAP4:NM_001384876:exon12:c.C2615T:p.S872L,MAP4:NM_001384878:exon12:c.C2606T:p.S869L,MAP4:NM_001384893:exon12:c.C2606T:p.S869L,MAP4:NM_001385685:exon12:c.C2513T:p.S838L,MAP4:NM_001134364:exon13:c.C2729T:p.S910L,MAP4:NM_001384676:exon13:c.C2729T:p.S910L,MAP4:NM_001384677:exon13:c.C2729T:p.S910L,MAP4:NM_001384733:exon13:c.C2654T:p.S885L,MAP4:NM_001384734:exon13:c.C2729T:p.S910L,MAP4:NM_001384735:exon13:c.C2729T:p.S910L,MAP4:NM_001384737:exon13:c.C2654T:p.S885L,MAP4:NM_001384744:exon13:c.C2657T:p.S886L,MAP4:NM_001384751:exon13:c.C2729T:p.S910L,MAP4:NM_001384754:exon13:c.C2729T:p.S910L,MAP4:NM_001384756:exon13:c.C2729T:p.S910L,MAP4:NM_001384761:exon13:c.C2654T:p.S885L,MAP4:NM_001384774:exon13:c.C2729T:p.S910L,MAP4:NM_001384778:exon13:c.C2096T:p.S699L,MAP4:NM_001384781:exon13:c.C2729T:p.S910L,MAP4:NM_001384791:exon13:c.C2657T:p.S886L,MAP4:NM_001384793:exon13:c.C2582T:p.S861L,MAP4:NM_001384794:exon13:c.C2564T:p.S855L,MAP4:NM_001384797:exon13:c.C2657T:p.S886L,MAP4:NM_001384798:exon13:c.C2729T:p.S910L,MAP4:NM_001384800:exon13:c.C2729T:p.S910L,MAP4:NM_001384810:exon13:c.C2729T:p.S910L,MAP4:NM_001384814:exon13:c.C2729T:p.S910L,MAP4:NM_001384819:exon13:c.C2729T:p.S910L,MAP4:NM_001384820:exon13:c.C2654T:p.S885L,MAP4:NM_001384824:exon13:c.C2654T:p.S885L,MAP4:NM_001384827:exon13:c.C2657T:p.S886L,MAP4:NM_001384834:exon13:c.C2639T:p.S880L,MAP4:NM_001384838:exon13:c.C2702T:p.S901L,MAP4:NM_001384846:exon13:c.C2729T:p.S910L,MAP4:NM_001384848:exon13:c.C2729T:p.S910L,MAP4:NM_001384849:exon13:c.C2690T:p.S897L,MAP4:NM_001384856:exon13:c.C2096T:p.S699L,MAP4:NM_001384859:exon13:c.C2651T:p.S884L,MAP4:NM_001384871:exon13:c.C2657T:p.S886L,MAP4:NM_001384873:exon13:c.C2651T:p.S884L,MAP4:NM_001384874:exon13:c.C2639T:p.S880L,MAP4:NM_001384879:exon13:c.C2729T:p.S910L,MAP4:NM_001384892:exon13:c.C2639T:p.S880L,MAP4:NM_001385664:exon13:c.C6044T:p.S2015L,MAP4:NM_001385665:exon13:c.C2729T:p.S910L,MAP4:NM_001385677:exon13:c.C2729T:p.S910L,MAP4:NM_001385684:exon13:c.C2729T:p.S910L,MAP4:NM_002375:exon13:c.C2729T:p.S910L,MAP4:NM_001384678:exon14:c.C2765T:p.S922L,MAP4:NM_001384679:exon14:c.C2780T:p.S927L,MAP4:NM_001384731:exon14:c.C2780T:p.S927L,MAP4:NM_001384736:exon14:c.C2780T:p.S927L,MAP4:NM_001384738:exon14:c.C2765T:p.S922L,MAP4:NM_001384748:exon14:c.C2765T:p.S922L,MAP4:NM_001384788:exon14:c.C2780T:p.S927L,MAP4:NM_001384790:exon14:c.C2780T:p.S927L,MAP4:NM_001384792:exon14:c.C2780T:p.S927L,MAP4:NM_001384796:exon14:c.C2780T:p.S927L,MAP4:NM_001384863:exon14:c.C2813T:p.S938L,MAP4:NM_001384872:exon14:c.C2765T:p.S922L,MAP4:NM_001384875:exon14:c.C2765T:p.S922L,MAP4:NM_001385675:exon14:c.C2765T:p.S922L,MAP4:NM_001385681:exon14:c.C2780T:p.S927L,MAP4:NM_001385686:exon14:c.C2780T:p.S927L,MAP4:NM_001384729:exon15:c.C2729T:p.S910L,MAP4:NM_001384745:exon15:c.C2816T:p.S939L,MAP4:NM_001384795:exon15:c.C2816T:p.S939L,MAP4:NM_001385682:exon15:c.C6164T:p.S2055L,MAP4:NM_001385687:exon15:c.C6164T:p.S2055L,MAP4:NM_001385688:exon15:c.C6092T:p.S2031L,MAP4:NM_001385689:exon15:c.C6164T:p.S2055L	.	393	1127	2	0	0	2	0.000886525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0217113425645	0.0003	.	6.606e-05	0.0004	0	0	0	3.003e-05	0	0.0001	5.17e-05	8	154602	rs148978514	5.678e-05	5.678e-05	5.309e-05	6.051e-05	0.0004	4.676e-05	4.301e-05	0.0003	0.0002	0.0004	8.944e-05	0	0	3.745e-05	0	3.148e-05	3.312e-05	0.0003	0.0001	0.0001	0.0001	0.0002	0.0005	9.744e-05	8.258e-05	0.0003	0.0002	0.0005	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.009	0.61437	D	0.028	0.63918	D	0.988	0.62325	D	0.629	0.54387	P	.	.	.	.	1	0.08975	N	1.645	0.42016	L	3.15	0.19860	T	-3.78	0.71519	D	0.116	0.11626	-1.0441	0.16089	T	0.107	0.39027	T	9	0.07925066	0.12726	T	0.021711	0.44515	T	0.050	0.13987	.	.	0.29893580763	0.29502	0.12802892181641157	0.12727	0.0838692635435	0.09456	0.25439953804	0.04246	T	0.075701	0.66865	T	-0.432488	0.01432	T	-0.542859	0.18016	T	0.0878341397897426	0.10958	T	0.889911	0.63872	D	0.10979348	0.25955	0.11786849	0.28454	0.10979348	0.25955	0.11786849	0.28453	-1.947	0.03465	T	.	.	0.079	0.19800	B	.;.;.;.;.;.	.;.;.;.;.;.	1.889555	0.24000	16.23	0.99810166618690588	0.89442	0.35254	0.25259	N	AEFDBI	0.172882	0.29994	N	-0.202930553285379	0.33014	1.86828	-0.276596032455718	0.28871	1.613107	0.999999632206321	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	4.26	0.49832	1.620000	0.36586	4.411000	0.43281	0.676000	0.76740	0.004000	0.16614	0.906000	0.28050	0.345000	0.25546	0.1634:0.0:0.8366:0.0	9.140	0.36062	9	0.99126	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1379.43	34	chr3	47870943	.	G	A	1379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=388;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.64;ReadPosRankSum=-0.432;SOR=0.528	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1014	9	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	116.92	86	chr3	48174283	.	C	G	116.92	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.236;DP=735;ExcessHet=0.7463;FS=134.56;InbreedingCoeff=-0.2658;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.31;SOR=9.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	5	0	3	2
chr3	48224612	48224612	C	T	exonic	CAMP	.	nonsynonymous SNV	CAMP:NM_004345:exon3:c.C319T:p.R107W	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00311631715202	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs779987355	1.574e-05	1.71e-05	1.634e-05	1.513e-05	0.0007	1.048e-05	8.76e-06	0.0002	0.0001	0	4.472e-05	0	2.519e-05	0	0.0007	9.898e-06	4.97e-05	2.319e-05	6.577e-06	6.568e-06	0	1.346e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.078	0.42261	T	.	.	.	.	.	.	0.465755	0.04896	N	1.302650	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.267	0.30233	-1.0136	0.25784	T	0.067	0.27640	T	9	0.12272665	0.23286	T	0.003116	0.06756	T	0.028	0.06331	.	.	0.439551795455	0.43578	0.3201863287063851	0.31931	0.0665655467666	0.07422	0.212739616632	0.00933	T	.	.	.	-0.347404	0.04892	T	-0.560951	0.16289	T	0.0489079616963863	0.05308	T	0.843516	0.52087	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16800	B	.	.	2.400174	0.30838	18.56	0.92349894030689517	0.21751	0.02186	0.06394	N	AEFDBI	0.086491	0.17536	N	-0.983367916561709	0.08958	0.4220724	-0.959826020675338	0.10696	0.5403415	0.999583789198302	0.40607	0.554377	0.28877	0	0.624146	0.53433	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.49	0.3	0.15024	-0.093000	0.11077	-5.367000	0.01745	-0.193000	0.09282	0.009000	0.18154	0.000000	0.08366	0.435000	0.27561	0.1512:0.4512:0.147:0.2506	1.361	0.02060	22	0.98466	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1158.43	88	chr3	48224612	.	C	T	1158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.705;DP=407;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.598;SOR=0.534	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	9	0	1	0
chr3	48225345	48225345	A	G	exonic	CAMP	.	nonsynonymous SNV	CAMP:NM_004345:exon4:c.A434G:p.K145R	.	423	1091	8	0	0	8	0.00365297	.	.	.	734111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.084	0.00551770141081	0.0017	0.000798722	0.0025	0.0002	0.0016	0.0001	0.0021	0.0025	0.0033	0.0061	0.0022639	350	154602	rs55708841	0.0026	0.0026	0.0026	0.0027	0.0063	0.0026	0.0025	0.0059	0.0057	0.0003	0.0014	0.0001	0	0.0020	0.0012	0.0027	0.0022	0.0063	0.0023	0.0023	0.0022	0.0023	0.0056	0.0021	0.0020	0.0039	0.0034	0.0004	0	0.0030	0	0.0004	0.0021	0	0.0034	0.0005	0.0056	0.161	0.23631	T	0.192	0.28300	T	.	.	.	.	.	.	0.655875	0.10471	N	0.829666	1	0.08975	N	.	.	.	.	.	.	0.02	0.06739	N	0.153	0.15749	-1.0404	0.17192	T	0.080	0.31645	T	9	0.004702896	0.00099	T	0.005518	0.14227	T	0.084	0.24469	.	.	0.656017828596	0.65314	0.18612583150538917	0.18530	0.131608955516	0.14841	0.343488365412	0.16960	T	.	.	.	-0.579679	0.00194	T	-0.602833	0.12575	T	0.0127265363205766	0.00215	T	0.50435	0.15896	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.712789	0.10815	7.498	0.98271447364863418	0.39768	0.05125	0.10931	N	AEFBI	0.033395	0.03951	N	-0.570577377113834	0.19843	1.041695	-0.802772151304632	0.14429	0.7538354	0.80604200452028	0.24272	0.643511	0.44296	0	0.688494	0.66719	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.24	-1.66	0.07824	0.009000	0.13117	-2.234000	0.04020	-0.122000	0.13826	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.438:0.1597:0.0934:0.3089	1.127	0.01629	22	0.98466	Cathelicidin, antimicrobial peptide, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	757.43	34	chr3	48225345	.	A	G	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-2.867;SOR=0.6	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1060	9	0	1	0
chr3	48268707	48268707	G	A	exonic	ZNF589	.	nonsynonymous SNV	ZNF589:NM_016089:exon4:c.G1016A:p.R339Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00218424383873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	1.361e-06	8.25e-06	2.987e-05	1.99e-06	1.28e-06	8.4e-07	5.7e-07	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.099	0.38891	T	0.467	0.36479	P	0.258	0.39350	B	.	.	.	.	1	0.20796	N	1.015	0.25427	L	2.18	0.18875	T	-2.62	0.56301	D	0.048	0.01999	-1.0444	0.16000	T	0.040	0.17319	T	9	0.089269936	0.15449	T	0.002184	0.04098	T	0.019	0.03383	0.449	0.50957	0.0611884634855	0.05136	0.011943755900371854	0.01154	0.183354818329	0.20623	0.254465401173	0.04252	T	0.09394	0.39314	T	-0.331995	0.05961	T	-0.714665	0.05057	T	0.30372878909111	0.25158	T	.	.	.	0.05531468	0.10732	0.0554481	0.09729	0.05531468	0.10732	0.0554481	0.09728	-5.9	0.45435	T	.	.	0.333	0.55445	B	.	.	0.284431	0.06609	3.105	0.9820830585557766	0.39184	0.00876	0.03464	N	ALL	0.024138	0.01448	N	-0.929467112883569	0.10157	0.4840668	-1.1354112001334	0.07033	0.3406091	0.999999629279878	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	1.07	0.179	0.14347	1.173000	0.31529	-7.361000	0.01173	-1.225000	0.01333	0.005000	0.17040	0.000000	0.08366	0.004000	0.06068	0.4683:0.0:0.5317:0.0	3.817	0.08334	21	0.98493	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	384.43	38	chr3	48268707	.	G	A	384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.836;DP=421;ExcessHet=0;FS=59.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.58;ReadPosRankSum=0.575;SOR=6.598	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	9	0	1	0
chr3	48375464	48375464	G	T	exonic	FBXW12	.	nonsynonymous SNV	FBXW12:NM_001159929:exon4:c.G340T:p.V114L,FBXW12:NM_001159927:exon5:c.G397T:p.V133L,FBXW12:NM_207102:exon5:c.G397T:p.V133L	.	430	1084	7	1	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00878594	0.0046	0	0.0003	0	0	4.499e-05	0.0022	0.0337	0.0040168	621	154602	rs201742935	0.0019	0.0019	0.0010	0.0028	0.0307	0.0018	0.0018	0.0297	0.0293	3.083e-05	7.067e-05	0	2.554e-05	0	0.0014	1.366e-05	0.0017	0.0307	0.0011	0.0011	0.0006	0.0016	0.0329	0.0010	0.0009	0.0288	0.0272	0.0001	0	6.537e-05	0	0	0	0	2.94e-05	0	0.0329	0.551	0.10980	T	0.048	0.50514	D	0.331	0.33259	B	0.093	0.30104	B	0.089265	0.20436	N	0.493332	1	0.81001	D	1.015	0.25427	L	1.8	0.35775	T	-1.01	0.26639	N	0.225	0.25253	-1.0547	0.13119	T	0.046	0.19559	T	10	0.0038165748	0.00072	T	.	.	.	0.015	0.02232	0.427	0.47350	0.288727942641	0.28479	0.22800968918968012	0.22715	0.330506473788	0.35129	0.336339563131	0.15889	T	0.009119	0.08323	T	-0.556872	0.00265	T	-0.54831	0.17488	T	0.0511540155149288	0.05701	T	0.552645	0.21276	T	0.05340051	0.10101	0.036403667	0.03080	0.05340051	0.10101	0.036403667	0.03080	-5.626	0.43029	T	.	.	0.486	0.63951	A	.;.;.	.;.;.	2.747483	0.36003	20.1	0.99473983841280977	0.66472	0.39633	0.26256	N	AEFI	0.055158	0.10090	N	-0.412522500352013	0.25030	1.355738	-0.327763760614018	0.27205	1.508009	0.0060291358865821	0.11107	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.22	2.4	0.28568	0.261000	0.18211	1.194000	0.24787	0.676000	0.76740	0.762000	0.29265	0.422000	0.24812	0.933000	0.47100	0.1894:0.1786:0.632:0.0	4.859	0.12934	24	0.98379	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	742.43	36	chr3	48375464	.	G	T	742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.074;DP=375;ExcessHet=0;FS=3.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.048;SOR=0.337	GT:AD:DP:GQ:PL	0/1:25,32:57:99:754,0,679	9	0	1	0
chr3	48378467	48378467	A	G	exonic	FBXW12	.	nonsynonymous SNV	FBXW12:NM_001159929:exon5:c.A499G:p.M167V,FBXW12:NM_207102:exon6:c.A556G:p.M186V	.	436	1054	31	1	0	33	0.0154134	.	.	.	2827376	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0041	0.00419329	0.0056	0.0009	0.0034	0	0.0061	0.0065	0.0022	0.0098	0.0052587	813	154602	rs112908035	0.0045	0.0045	0.0041	0.0048	0.0095	0.0044	0.0043	0.0083	0.0081	0.0005	0.0038	0.0108	0	0.0035	0.0095	0.0042	0.0053	0.0088	0.0042	0.0042	0.0042	0.0043	0.0085	0.0040	0.0039	0.0064	0.0057	0.0011	0.0219	0.0053	0.0124	0	0.0043	0.0068	0.0052	0.0057	0.0085	0.007	0.59928	D	0.024	0.92824	D	0.012	0.16265	B	0.004	0.10090	B	0.312726	0.14405	N	0.685919	1	0.08975	N	1.39	0.34934	L	1.69	0.61326	T	-1.41	0.37566	N	0.168	0.21056	-1.0276	0.21233	T	0.080	0.31675	T	10	0.0056948066	0.00126	T	.	.	.	0.036	0.09122	.	.	0.392547445146	0.38869	0.2117677455546894	0.21092	0.0899978118778	0.10153	0.304977238178	0.11148	T	0.004278	0.03690	T	-0.507582	0.00518	T	-0.494634	0.22907	T	0.00681181412998566	0.00077	T	0.424958	0.11391	T	0.23161419	0.45935	0.12328104	0.29730	0.23161419	0.45935	0.12328104	0.29729	-5.689	0.53255	T	.	.	0.145	0.32030	B	.;.;.	.;.;.	-0.691431	0.01341	0.074	0.3674842846625847	0.02381	0.01129	0.04108	N	AEFBI	0.034401	0.04254	N	-1.28344631552288	0.03875	0.173874	-1.40789225083206	0.03173	0.1474615	0.12793397980814	0.17030	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.5	-5.66	0.02255	-0.003000	0.12836	-1.477000	0.05351	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4227:0.2396:0.3377:0.0	5.596	0.16607	24	0.98379	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011078	0.010101	0.017663	0.002924	0.000000	0.008621	0.006098	0.007576	0.05	1197.43	106	chr3	48378467	.	A	G	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.628;DP=510;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.591;SOR=0.765	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr3	48420857	48420857	G	A	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon9:c.C1910T:p.P637L,PLXNB1:NM_002673:exon9:c.C1910T:p.P637L	.	.	.	.	.	.	.	.	.	.	.	2217764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0115263939978	0.0002	0.000199681	6.645e-05	0	0	0	0	7.547e-05	0	0.0002	6.47e-05	10	154602	rs202117717	9.171e-05	9.166e-05	9.124e-05	9.218e-05	0.0002	7.894e-05	7.369e-05	0.0001	0.0001	0	0	0	0	0	0	9.988e-05	9.938e-05	0.0002	2.625e-05	2.624e-05	3.854e-05	1.342e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.249	0.17183	T	0.287	0.21210	T	0.0	0.07471	B	0.001	0.11217	B	0.020462	0.27033	N	0.355793	0.999999	0.08975	N	0.97	0.24054	L	3.99	0.03268	T	-2.21	0.49684	N	0.329	0.36989	-0.9481	0.41296	T	0.008	0.02884	T	10	0.07858458	0.12541	T	0.011526	0.29247	T	0.021	0.04004	.	.	0.213499824651	0.20940	0.5601388098240246	0.55940	0.226421735021	0.25199	0.323062896729	0.13885	T	0.143252	0.47927	T	-0.461646	0.00960	T	-0.60875	0.12087	T	0.102712824940681	0.12653	T	0.767723	0.45191	T	0.046817545	0.07901	0.055903874	0.09893	0.046817545	0.07901	0.055903874	0.09892	-5.168	0.47615	T	.	.	0.091	0.27880	B	.;.;.	.;.;.	2.030134	0.25802	16.89	0.4951215982895798	0.04223	0.17665	0.19935	N	AEFGBCI	0.127016	0.24421	N	-0.786316021296908	0.13666	0.6748778	-0.759575185999293	0.15487	0.8147617	0.99996563710126	0.48965	0.651	0.46895	0	0.670034	0.63936	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.24	3.16	0.35406	1.016000	0.29578	2.665000	0.33907	0.676000	0.76740	0.348000	0.25742	0.996000	0.32793	0.831000	0.39176	0.1565:0.0:0.5495:0.2939	5.044	0.13814	15	0.98792	PSI domain;PSI domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1724.43	35	chr3	48420857	.	G	A	1724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.997;DP=508;ExcessHet=0;FS=4.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=1.65;SOR=0.998	GT:AD:DP:GQ:PL	0/1:107,79:186:99:1736,0,2484	9	0	1	0
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H,PLXNB1:NM_002673:exon3:c.G815A:p.R272H	.	426	1067	28	1	0	30	0.0138632	.	.	.	3192376	PLXNB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.005051	0.020380	0.005848	0.000000	0.017241	0.009146	0.030303	0.05	1184.43	34	chr3	48423797	.	C	T	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.279;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-0.624;SOR=0.653	GT:AD:DP:GQ:PL	0/1:62,50:112:99:1196,0,1529	9	0	1	0
chr3	48460226	48460226	G	A	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_001271023:exon8:c.G893A:p.R298Q,ATRIP:NM_032166:exon8:c.G1172A:p.R391Q,ATRIP:NM_130384:exon8:c.G1172A:p.R391Q,ATRIP:NM_001271022:exon9:c.G791A:p.R264Q	.	431	1086	5	0	0	5	0.00229674	.	.	.	734117	not_specified|not_provided|ATRIP-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.133	0.0316245628926	0.0005	0.000599042	0.0008	0	0.0003	0	0.0003	0.0003	0	0.0039	0.000705	109	154602	rs142899473	0.0005	0.0005	0.0004	0.0007	0.0043	0.0005	0.0005	0.0039	0.0038	8.961e-05	0.0002	0	0	0.0001	0.0016	0.0003	0.0007	0.0043	0.0004	0.0004	0.0003	0.0006	0.0046	0.0003	0.0003	0.0031	0.0026	7.215e-05	0	6.539e-05	0	0	0.0002	0	0.0005	0.0005	0.0046	0.393	0.37750	T	0.039	0.51421	D	1.0	0.90584	D	0.996	0.84481	D	0.000070	0.52346	D	0.195617	0.778644	0.29357	N	2.77	0.80896	M	0.97	0.42502	T	-0.81	0.24026	N	0.327	0.41360	-0.8530	0.51760	T	0.186	0.53556	T	9	0.009278595	0.00210	T	0.031625	0.53663	D	0.133	0.36157	.	.	0.423360453849	0.41956	0.2351661102112964	0.23431	0.928783125732	0.71741	0.290582060814	0.09006	T	0.078342	0.35868	T	-0.31884	0.06992	T	-0.230912	0.51684	T	0.118749482938802	0.14308	T	0.914708	0.70532	D	0.067357965	0.14579	0.076467335	0.16938	0.067357965	0.14578	0.076467335	0.16938	-2.923	0.09600	T	.	.	0.113	0.22245	B	.;.;.;.	.;.;.;.	5.019412	0.83409	28.0	0.999461364681548	0.99901	0.93534	0.58479	D	AEFBI	0.625718	0.60881	D	0.589722624014539	0.72534	5.820651	0.581147360748954	0.73589	5.995233	0.999885969783384	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	4.92	0.64147	4.847000	0.62565	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.808000	0.38083	0.0:0.0:0.7111:0.2889	11.297	0.48518	13	0.98894	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1679.43	35	chr3	48460226	.	G	A	1679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.534;DP=479;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.741;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	9	0	1	0
chr3	48464990	48464990	A	T	exonic	ATRIP	.	nonsynonymous SNV	ATRIP:NM_032166:exon11:c.A2134T:p.M712L,ATRIP:NM_001271023:exon12:c.A1936T:p.M646L,ATRIP:NM_130384:exon12:c.A2215T:p.M739L,ATRIP:NM_001271022:exon13:c.A1834T:p.M612L	.	412	1108	2	0	0	2	0.000901713	.	.	.	734123	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0060623757836	0.0028	0.000798722	0.0017	0.0005	0.0003	0	0.0005	0.0027	0	0.0009	0.0018952	293	154602	rs142995259	0.0032	0.0032	0.0033	0.0032	0.0039	0.0031	0.0031	0.0038	0.0038	0.0005	0.0009	0.0003	0	0.0008	0.0024	0.0039	0.0023	0.0010	0.0018	0.0018	0.0020	0.0015	0.0031	0.0016	0.0015	0.0028	0.0026	0.0007	0.0011	0.0011	0.0003	0	0.0006	0	0.0031	0.0019	0.0004	0.518	0.07307	T	0.507	0.10967	T	0.004	0.12183	B	0.002	0.06944	B	0.011030	0.29689	N	0.360944	0.999998	0.08975	N	0	0.06538	N	1.02	0.40749	T	-0.73	0.20576	N	0.256	0.30574	-1.0190	0.24041	T	0.044	0.18989	T	10	0.011906058	0.00258	T	0.006062	0.15846	T	0.061	0.17616	0.218	0.13932	0.265010934533	0.26120	0.19240586389376055	0.19158	0.248207255185	0.27377	0.323081582785	0.13888	T	0.066604	0.32988	T	-0.503229	0.00548	T	-0.494677	0.22902	T	0.0021730287256603	0.00022	T	0.79572	0.47860	T	0.055581182	0.10820	0.05703787	0.10300	0.055581182	0.10820	0.05703787	0.10299	0.83	0.00221	T	.	.	0.123	0.30264	B	.;.;.;.	.;.;.;.	1.640549	0.20938	14.98	0.66624541798263126	0.08113	0.60264	0.31146	D	AEFDGBCI	0.335369	0.43383	N	-1.05550936921244	0.07480	0.3476114	-0.934608313776253	0.11282	0.5737417	0.999999691416365	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.51	1.68	0.23219	3.847000	0.55604	1.675000	0.27978	-0.562000	0.04833	1.000000	0.71638	0.940000	0.28757	0.165000	0.20815	0.3501:0.0:0.6499:0.0	7.625	0.27373	13	0.98894	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2073.43	39	chr3	48464990	.	A	T	2073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.785;DP=493;ExcessHet=0;FS=4.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.013;SOR=0.433	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr3	48467452	48467452	A	G	exonic	TREX1	.	nonsynonymous SNV	TREX1:NM_007248:exon2:c.A767G:p.E256G,TREX1:NM_033629:exon2:c.A797G:p.E266G	Aicardi-Goutieres syndrome 1, dominant and recessive, Autosomal recessive, Autosomal dominant;Chilblain lupus, Autosomal dominant;Vasculopathy, retinal, with cerebral leukodystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	102136	Aicardi-Goutieres_syndrome_1|Retinal_vasculopathy_with_cerebral_leukoencephalopathy_and_systemic_manifestations|Chilblain_lupus_1|Aicardi_Goutieres_syndrome|TREX1-related_disorder|not_provided|not_specified|Systemic_lupus_erythematosus	MONDO:MONDO:0009165,MedGen:C0796126,OMIM:225750,Orphanet:51|MONDO:MONDO:0008641,MedGen:C1860518,OMIM:192315,Orphanet:247691,Orphanet:3421,Orphanet:63261,Orphanet:71291|MONDO:MONDO:0012500,MedGen:C0024145,OMIM:610448|MONDO:MONDO:0018866,MedGen:C0393591,OMIM:PS225750,Orphanet:51|MedGen:CN239414|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002725,MONDO:MONDO:0007915,MedGen:C0024141,OMIM:152700,Orphanet:536	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.00438214772948	0.0028	0.000199681	0.0017	0.0004	0.0003	0	0.0005	0.0027	0	0.0008	0.0017982	278	154602	rs55999987	0.0031	0.0031	0.0032	0.0031	0.0038	0.0031	0.0030	0.0037	0.0037	0.0004	0.0007	0.0003	0	0.0008	0.0005	0.0038	0.0022	0.0010	0.0017	0.0017	0.0020	0.0015	0.0031	0.0016	0.0015	0.0027	0.0026	0.0007	0.0011	0.0010	0.0003	0	0.0006	0	0.0031	0.0019	0.0004	0.469	0.08685	T	0.215	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.88	0.46028	T	-0.59	0.19933	N	0.055	0.06587	-0.9837	0.34140	T	0.028	0.11882	T	9	0.004069388	0.00079	T	0.004382	0.10687	T	0.032	0.07718	.	.	0.0611884634855	0.05136	0.2850471656553265	0.28417	.	.	0.237144261599	0.02539	T	0.009145	0.08348	T	-0.680609	0.00048	T	-0.749471	0.03506	T	0.000617096549831331	0.00005	T	0.253275	0.03871	T	0.06340844	0.13347	0.04638616	0.06452	0.07665069	0.17349	0.041035414	0.04573	-2.053	0.03388	T	0.0868777219441083	0.05046	0.051	0.00397	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.047645	0.03964	0.891	0.77497490077087172	0.11901	0.00791	0.03234	N	AEFGBHCI	0.069037	0.13647	N	-1.79436455178858	0.00559	0.02407863	-1.76482763463777	0.00879	0.03927136	0.99999980742473	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.1	-4.46	0.03288	-0.429000	0.07051	0.481000	0.18806	-0.704000	0.03997	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.571:0.0:0.3001:0.1289	6.611	0.21944	13	0.98894	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1755.43	40	chr3	48467452	.	A	G	1755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.042;DP=474;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.106;SOR=0.929	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr3	48589399	48589399	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon18:c.G2242A:p.E748K	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	1	1460	56	5	0	66	0.0221031	.	.	.	251202	not_specified|not_provided|Epidermolysis_bullosa_dystrophica	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0009	0.00379393	0.0033	0.0002	0.0018	0	0	0.0014	0.0011	0.0172	0.0028978	448	154602	rs148411473	0.0018	0.0018	0.0012	0.0024	0.0184	0.0018	0.0017	0.0176	0.0173	0.0003	0.0011	0.0009	0	1.888e-05	0.0141	0.0007	0.0027	0.0184	0.0015	0.0015	0.0012	0.0018	0.0151	0.0013	0.0013	0.0123	0.0113	7.222e-05	0	0.0044	0.0006	0	0	0.0204	0.0011	0.0009	0.0151	0.231	0.18246	T	0.139	0.33666	T	0.959	0.55135	D	0.777	0.57175	P	0.005376	0.32858	N	0.135690	0.508456	0.31667	N	1.9	0.50570	L	0.4	0.57261	T	-0.62	0.18248	N	0.491	0.52475	-0.5244	0.67752	T	0.229	0.59497	T	10	0.011641651	0.00254	T	.	.	.	0.194	0.47447	.	.	0.824655765994	0.82299	0.3013747926667479	0.30050	0.280732358232	0.30549	0.526489496231	0.42541	T	0.117249	0.43719	T	-0.330449	0.06078	T	-0.233164	0.51465	T	0.015706234838433	0.00362	T	0.789521	0.42989	T	0.0975243	0.22990	0.11257368	0.27163	0.0975243	0.22990	0.11257368	0.27163	-7.264	0.55939	T	0.14660050217181989	0.16924	0.135	0.29367	B	.	.	2.133117	0.27159	17.37	0.99226725419442319	0.56089	0.53863	0.29475	D	AEFDBCI	0.204462	0.33089	N	0.353590615966237	0.58928	4.068354	0.303934232186075	0.55768	3.739905	0.999996664336923	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	5.26	5.26	0.73479	0.947000	0.28680	2.714000	0.34259	0.599000	0.40250	0.407000	0.26226	0.994000	0.32194	0.878000	0.41950	0.0:0.9099:0.0:0.0901	10.354	0.43134	11	0.98996	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.016304	0.023392	0.000000	0.008621	0.021341	0.022727	0.1	2784.14	35	chr3	48589399	.	C	T	2784.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.542;DP=520;ExcessHet=0.2348;FS=1.633;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.609;SOR=0.561	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	8	0	2	0
chr3	48639758	48639758	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9827T:p.P3276L	.	421	1052	47	2	0	51	0.0236659	.	.	.	698156	not_provided|CELSR3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0062	0.00359425	0.0075	0.0012	0.0074	0	0.0029	0.0104	0.0168	0.0051	0.0072767	1125	154602	rs61729242	0.0079	0.0079	0.0078	0.0079	0.0390	0.0078	0.0077	0.0348	0.0332	0.0015	0.0066	0.0499	5.038e-05	0.0041	0.0390	0.0074	0.0104	0.0060	0.0062	0.0062	0.0064	0.0059	0.0080	0.0058	0.0057	0.0074	0.0072	0.0011	0	0.0060	0.0478	0	0.0036	0.0238	0.0080	0.0085	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.999333	0.46701	D	1.65	0.42232	L	-0.48	0.70249	T	-2.7	0.57599	D	0.464	0.50056	-0.8880	0.49105	T	0.105	0.38489	T	9	0.0051828325	0.00113	T	.	.	.	0.128	0.35103	.	.	0.467483910872	0.46373	0.30267156966905423	0.30180	0.295121419121	0.31921	0.675325274467	0.63598	T	0.343702	0.71231	T	-0.371478	0.03519	T	-0.295991	0.45146	T	0.0751808807291779	0.09360	T	0.779122	0.41282	T	0.16058633	0.36010	0.17643678	0.40178	0.16058633	0.36010	0.17643678	0.40177	-4.595	0.32109	T	.	.	0.124	0.25946	B	.	.	3.561600	0.50119	22.9	0.99799961824778272	0.88461	0.94399	0.61041	D	AEFBI	0.534837	0.55372	D	-0.125447496584212	0.36285	2.095405	0.0344376320891939	0.41326	2.480925	0.999707340005375	0.41986	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.36	4.49	0.54177	5.120000	0.64523	6.362000	0.55510	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1537:0.0:0.6964:0.1498	6.267	0.20143	4	0.99387	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.028701	0.010101	0.047554	0.020588	0.000000	0.017241	0.021341	0.022727	0.05	1815.43	36	chr3	48639758	.	G	A	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.545;DP=478;ExcessHet=0;FS=2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.36;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	9	0	1	0
chr3	48662268	48662268	G	C	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon1:c.C367G:p.R123G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0516227902453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.082	0.41573	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.55	0.71068	T	-0.9	0.24244	N	0.108	0.09349	-0.9598	0.39218	T	0.146	0.47056	T	9	0.066880584	0.09238	T	0.051623	0.64738	D	0.183	0.45592	0.168	0.07302	0.421714571039	0.41790	0.1670929949419266	0.16629	0.985944068956	0.73906	0.25840601325	0.04703	T	0.199837	0.55723	T	-0.176212	0.24302	T	-0.490893	0.23298	T	0.0539714429026635	0.06184	T	0.770923	0.40135	T	0.11712007	0.27615	0.19552003	0.43233	0.11712007	0.27615	0.19552003	0.43232	-3.27	0.13353	T	.	.	0.060	0.00979	B	.	.	1.653640	0.21093	15.05	0.95445407176075014	0.26957	0.02760	0.07451	N	AEFDGBHCI	0.119171	0.23271	N	-1.03029946650001	0.07980	0.3725731	-1.04934925088641	0.08720	0.4301531	0.999999749920934	0.74766	0.766844	0.99359	0	0.606814	0.50340	0	0.851219	0.99655	0	0.63947	0.58350	0	.	.	4.68	-1.19	0.09091	0.259000	0.18174	1.286000	0.25382	0.672000	0.70159	0.001000	0.13787	0.001000	0.17328	0.323000	0.25040	0.0:0.2372:0.2791:0.4837	9.003	0.35254	3	0.99430	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2477.43	35	chr3	48662268	.	G	C	2477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=511;ExcessHet=0;FS=4.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.338;SOR=0.844	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1279	9	0	1	0
chr3	48694930	48694930	T	C	exonic	IP6K2	.	nonsynonymous SNV	IP6K2:NM_001190316:exon3:c.A527G:p.H176R,IP6K2:NM_001190317:exon3:c.A536G:p.H179R	.	390	1126	6	0	0	6	0.00265722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0126109212999	.	0.000199681	0.0016	0	0	0	0	0.0002	0	0.0038	0.0002652	41	154602	rs200668427	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0012	4.888e-05	0.0003	0.0032	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	9.625e-05	0	6.534e-05	0	0	0	0	8.822e-05	0	0.0035	0.0	0.91255	D	0.073	0.43531	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.66	0.52416	T	-0.26	0.11185	N	0.131	0.29197	-1.0820	0.06965	T	0.063	0.26244	T	9	0.0056069493	0.00124	T	0.012611	0.31334	T	0.057	0.16321	0.088	0.00943	0.138757226776	0.13463	.	.	.	.	.	.	.	.	.	.	-0.479594	0.00743	T	-0.465044	0.26053	T	0.104573277152844	0.12852	T	0.378962	0.09121	T	.	.	.	.	.	.	.	.	-2.934	0.09967	T	.	.	0.157	0.40213	B	.;.;.;.;.;.	.;.;.;.;.;.	2.112772	0.26887	17.27	0.98038988957422435	0.37774	0.76133	0.37317	D	ALL	0.273553	0.38893	N	-0.545773530887192	0.20616	1.08812	-0.40201580517333	0.24937	1.368489	0.999999999952624	0.74766	0.730579	0.87903	0	0.577304	0.33150	0	0.749866	0.98131	0	0.654926	0.60358	0	.	.	4.46	3.3	0.36912	0.975000	0.29046	3.552000	0.39052	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.0:0.1054:0.0:0.8946	6.622	0.22004	2	0.99499	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001569	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.011538	0.05	1603.43	34	chr3	48694930	.	T	C	1603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=416;ExcessHet=0;FS=2.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-0.974;SOR=0.484	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1147	9	0	1	0
chr3	49115902	49115902	G	A	exonic	USP19	.	nonsynonymous SNV	USP19:NM_001351102:exon10:c.C1166T:p.T389I,USP19:NM_001351103:exon10:c.C1211T:p.T404I,USP19:NM_001351104:exon10:c.C1217T:p.T406I,USP19:NM_001351106:exon10:c.C1211T:p.T404I,USP19:NM_001351108:exon10:c.C1172T:p.T391I,USP19:NM_006677:exon10:c.C1205T:p.T402I,USP19:NM_001199160:exon11:c.C1508T:p.T503I,USP19:NM_001199161:exon11:c.C1514T:p.T505I,USP19:NM_001199162:exon11:c.C1478T:p.T493I,USP19:NM_001351098:exon11:c.C1475T:p.T492I,USP19:NM_001351099:exon11:c.C1505T:p.T502I,USP19:NM_001351100:exon11:c.C1511T:p.T504I,USP19:NM_001351101:exon11:c.C1514T:p.T505I,USP19:NM_001351105:exon11:c.C1358T:p.T453I,USP19:NM_001351107:exon11:c.C1469T:p.T490I	.	422	1094	6	0	0	6	0.00273473	.	.	.	4083758	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.168	0.00880763665752	0.0002	0.000199681	0.0003	0	0	0	0	1.546e-05	0	0.0027	0.0002458	38	154602	rs199766552	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0	0	0	0.0011	4.115e-05	0.0002	0.0025	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	9.24e-05	0.0016	0.0013	9.63e-05	0	6.539e-05	0	0	0	0	8.825e-05	0	0.0027	0.002	0.72154	D	0.01	0.69154	D	0.971	0.57185	D	0.724	0.55036	P	0.000292	0.46274	D	0.253749	0.999971	0.58761	D	0.695	0.17993	N	2.04	0.38073	T	-1.88	0.49846	N	0.53	0.58117	-0.9830	0.34305	T	0.157	0.48993	T	10	0.023425221	0.00612	T	0.008808	0.23245	T	0.168	0.42943	.	.	0.143184338766	0.13958	0.25448269893987546	0.25362	0.509059477772	0.49044	0.639447689056	0.58486	T	0.030859	0.22997	T	-0.358208	0.04232	T	-0.293794	0.45376	T	0.18055938799829	0.19270	T	0.941106	0.78031	D	0.13090499	0.30530	0.29620686	0.55652	0.13090499	0.30530	0.29620686	0.55651	-4.558	0.32347	T	.	.	0.161	0.51068	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.341309	0.66608	25.0	0.99881598818765638	0.95733	0.99571	0.97563	D	AEFDBI	0.884881	0.81493	D	0.74976070804033	0.82890	7.875722	0.82153586737776	0.91250	10.79215	0.99999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.446000	0.96756	11.856000	0.98202	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.474	0.99171	0	0.99858	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2700.43	34	chr3	49115902	.	G	A	2700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.45;DP=518;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.7;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1017	9	0	1	0
chr3	49271371	49271371	C	T	exonic	C3orf62	.	nonsynonymous SNV	C3orf62:NM_198562:exon3:c.G613A:p.G205S	.	434	1071	17	0	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00498835903467	0.0034	0.00119808	0.0029	0.0008	0.0010	0	0.0014	0.0045	0.0022	0.0012	0.0030983	479	154602	rs150162031	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	0	0.0019	0.0080	0.0056	0.0047	0.0017	0.0031	0.0031	0.0033	0.0029	0.0050	0.0029	0.0028	0.0046	0.0044	0.0011	0.0011	0.0035	0.0003	0	0.0015	0.0068	0.0050	0.0038	0.0008	0.162	0.23541	T	0.297	0.20551	T	0.051	0.22415	B	0.067	0.27542	B	0.079406	0.20986	N	0.404485	0.999992	0.08975	N	1.445	0.36358	L	0.79	0.49068	T	-2.9	0.60827	D	0.115	0.10340	-1.0477	0.15045	T	0.055	0.23338	T	10	0.0040697157	0.00079	T	0.004988	0.12598	T	0.012	0.01476	.	.	0.289474373501	0.28556	0.12887484892142367	0.12812	0.0816453080078	0.09195	.	.	.	0.037492	0.24493	T	-0.52518	0.00410	T	-0.523435	0.19946	T	0.00917204199756853	0.00116	T	0.582642	0.21138	T	0.05229814	0.09735	0.06583787	0.13400	0.05229814	0.09734	0.06583787	0.13400	-2.482	0.05660	T	.	.	0.076	0.06069	B	.	.	0.841708	0.12137	8.685	0.55620872445190972	0.05380	0.03476	0.08635	N	AEFDGBI	0.033556	0.04004	N	-0.759683506032497	0.14371	0.7153474	-0.734477403460254	0.16104	0.8503523	0.725265385761274	0.22980	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.16	2.19	0.26890	0.477000	0.21906	2.023000	0.30218	0.469000	0.21855	0.314000	0.25450	0.990000	0.31317	0.130000	0.19568	0.0:0.6775:0.0:0.3225	6.116	0.19348	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.003049	0.003788	0.05	1059.43	34	chr3	49271371	.	C	T	1059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.346;DP=397;ExcessHet=0;FS=0.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.623;SOR=0.9	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	9	0	1	0
chr3	49357420	49357420	C	T	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon2:c.G442A:p.A148T	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	1	1480	41	0	0	41	0.0136621	.	.	.	3206544	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0078	0.0125799	0.0041	0.0323	0.0018	0	0	0.0008	0.0023	0.0075	0.0039133	605	154602	rs6446261	0.0018	0.0018	0.0017	0.0018	0.0328	0.0017	0.0017	0.0311	0.0305	0.0328	0.0027	0.0039	5.041e-05	0	0.0090	0.0003	0.0035	0.0075	0.0096	0.0097	0.0095	0.0098	0.0320	0.0092	0.0091	0.0306	0.0300	0.0320	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0081	0.0079	0.581	0.05973	T	0.516	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.050785	0.23039	N	0.475441	1	0.81001	D	1.29	0.32370	L	3.7	0.04079	T	-0.44	0.14588	N	0.122	0.11340	-0.9341	0.43530	T	0.003	0.00994	T	10	0.0057239234	0.00127	T	.	.	.	0.036	0.09122	.	.	0.310458034454	0.30648	.	.	0.625492213557	0.56726	0.266051054001	0.05632	T	0.046592	0.27470	T	-0.64502	0.00078	T	-0.675618	0.07253	T	0.00226996346110567	0.00024	T	0.460354	0.25495	T	0.036734007	0.04575	0.030052433	0.01414	0.036734007	0.04575	0.030052433	0.01413	.	.	.	.	.	0.088	0.13268	B	.;.;.	.;.;.	2.313638	0.29619	18.18	0.91150700794935624	0.20404	0.68796	0.33938	D	AEFGBCI	0.286005	0.39849	N	-0.459519707602378	0.23419	1.257467	-0.361417653601922	0.26157	1.443024	0.99999992207612	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	5.1	3.28	0.36691	0.873000	0.27702	2.188000	0.31185	0.596000	0.33519	0.954000	0.33273	0.999000	0.35428	0.731000	0.35132	0.1517:0.6012:0.0:0.2471	4.660	0.12023	1	0.99630	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010171	0.010417	0.014986	0.008264	0.050000	0.025862	0.003145	0.007692	0.05	623.43	33	chr3	49357420	.	C	T	623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.644;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.2;MQRankSum=-0.486;QD=12.47;ReadPosRankSum=2.18;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:51,0:51:99:.:.:0,120,1800:.	9	0	1	0
chr3	49358265	49358265	C	G	exonic	GPX1	.	nonsynonymous SNV	GPX1:NM_001329455:exon1:c.G14C:p.R5P	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	2	1481	39	0	0	39	0.0129957	.	.	.	3217126	GPX1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.043	.	.	0.0125799	0.0059	0.0383	0	0	0	0.0015	0	0.0047	0.0012484	193	154602	rs8179169	0.0017	0.0017	0.0016	0.0018	0.0329	0.0016	0.0016	0.0313	0.0306	0.0329	0.0029	0.0041	5.632e-05	0	0.0047	0.0003	0.0036	0.0075	0.0097	0.0097	0.0095	0.0098	0.0321	0.0093	0.0091	0.0306	0.0301	0.0321	0	0.0028	0.0035	0	0	0.0102	0.0004	0.0080	0.0079	0.056	0.53900	T	0.062	0.45318	T	0.0	0.02946	B	0.0	0.01387	B	0.973120	0.07792	N	1.021110	1	0.08975	N	0.55	0.14455	N	4.07	0.12988	T	-0.98	0.29525	N	0.1	0.40063	-0.9659	0.38033	T	0.017	0.06807	T	10	0.0021373928	0.00031	T	.	.	.	0.043	0.11576	.	.	0.43656330218	0.43278	.	.	0.930252368807	0.71791	0.628332972527	0.56908	T	0.041852	0.25994	T	-0.600678	0.00144	T	-0.612612	0.11774	T	0.0213533665627042	0.00838	T	0.422258	0.11242	T	0.20519191	0.42654	0.19333829	0.42897	0.20519191	0.42654	0.19333829	0.42896	.	.	.	.	.	0.077	0.11701	B	.;.;.;.	.;.;.;.	0.471235	0.08407	5.163	0.9515917842168633	0.26303	0.05059	0.10849	N	AEFGBHCIJ	.	.	.	-1.18523976353331	0.05223	0.237591	-1.2369128723785	0.05328	0.2535777	0.999999999999359	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.75	-5.29	0.02535	-0.629000	0.05605	-1.318000	0.05730	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.594000	0.31239	0.2114:0.2629:0.2908:0.2349	0.981	0.01346	1	0.99630	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009732	0.018293	0.013793	0.013605	0.000000	0.032609	0.003846	0.000000	0.05	1198.43	40	chr3	49358265	.	C	G	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.426;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.23;MQRankSum=-2.808;QD=20.31;ReadPosRankSum=-0.733;SOR=0.702	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	9	0	1	0
chr3	49419325	49419325	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164710:exon5:c.G499A:p.E167K,AMT:NM_001164711:exon5:c.G463A:p.E155K,AMT:NM_000481:exon6:c.G631A:p.E211K,AMT:NM_001164712:exon6:c.G631A:p.E211K	Glycine encephalopathy, Autosomal recessive	0	1424	94	4	0	102	0.0345763	.	.	.	452827	Glycine_encephalopathy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0065	0.0071885	0.0110	0.0012	0.0059	0	0.0136	0.0125	0.0203	0.0191	0.0104591	1617	154602	rs116192290	0.0089	0.0089	0.0083	0.0095	0.0270	0.0087	0.0087	0.0236	0.0223	0.0012	0.0066	0.0194	7.557e-05	0.0116	0.0270	0.0082	0.0102	0.0182	0.0079	0.0079	0.0078	0.0081	0.0174	0.0075	0.0074	0.0144	0.0133	0.0018	0.0219	0.0074	0.0170	0	0.0131	0.0272	0.0099	0.0137	0.0174	0.661	0.13262	T	0.8	0.04142	T	0.019	0.17989	B	0.023	0.19966	B	0.016838	0.27876	N	0.416320	0.655655	0.36667	D	0.19	0.09125	N	-1.73	0.83327	D	-1.46	0.37375	N	0.179	0.30118	-0.9990	0.30199	T	0.063	0.26136	T	10	0.008803636	0.00199	T	.	.	.	0.437	0.74164	.	.	.	.	0.6177274581730304	0.61705	0.234613189541	0.26000	0.587630629539	0.51160	T	0.595225	0.86947	D	-0.199244	0.20915	T	-0.0440396	0.67427	D	0.00989505753933275	0.00131	T	0.948205	0.80130	D	0.3693229	0.58535	0.14150867	0.33697	0.3693229	0.58535	0.14150867	0.33696	-6.095	0.48405	T	0.12287218848646665	0.11830	0.133	0.35034	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.845707	0.37553	20.5	0.99527904960598856	0.69653	0.64042	0.32280	D	AEFDGBCI	0.282641	0.39593	N	0.0923306099819885	0.46106	2.856147	0.178970971326757	0.48694	3.082081	0.999999700014168	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.43	3.64	0.40864	2.567000	0.45619	3.305000	0.37415	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.827:0.0:0.173	9.263	0.36786	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	rs116192290	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.010101	0.020380	0.026316	0.000000	0.008621	0.024390	0.026515	0.05	1809.43	131	chr3	49419325	.	C	T	1809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.116;DP=450;ExcessHet=0;FS=2.251;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.153;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	9	0	1	0
chr3	49510792	49510792	G	C	exonic	DAG1	.	nonsynonymous SNV	DAG1:NM_001177639:exon2:c.G258C:p.L86F,DAG1:NM_001177643:exon2:c.G258C:p.L86F,DAG1:NM_001177644:exon2:c.G258C:p.L86F,DAG1:NM_004393:exon2:c.G258C:p.L86F,DAG1:NM_001177635:exon3:c.G258C:p.L86F,DAG1:NM_001177637:exon3:c.G258C:p.L86F,DAG1:NM_001177638:exon3:c.G258C:p.L86F,DAG1:NM_001177640:exon3:c.G258C:p.L86F,DAG1:NM_001177641:exon3:c.G258C:p.L86F,DAG1:NM_001177642:exon3:c.G258C:p.L86F,DAG1:NM_001177636:exon4:c.G258C:p.L86F,DAG1:NM_001165928:exon5:c.G258C:p.L86F,DAG1:NM_001177634:exon5:c.G258C:p.L86F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	192381	DAG1-related_disorder|Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A9|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2P|not_specified|not_provided	.|MONDO:MONDO:0014683,MedGen:C4225291,OMIM:616538,Orphanet:370997,Orphanet:899|MONDO:MONDO:0013440,MedGen:C4511963,OMIM:613818,Orphanet:280333|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.225	0.0345599240663	0.0034	0.00119808	0.0029	0.0008	0.0011	0	0.0014	0.0045	0.0022	0.0012	0.0030853	477	154602	rs145403829	0.0047	0.0047	0.0048	0.0047	0.0080	0.0046	0.0046	0.0061	0.0055	0.0011	0.0021	0.0004	2.519e-05	0.0019	0.0080	0.0056	0.0048	0.0017	0.0031	0.0031	0.0033	0.0029	0.0051	0.0029	0.0028	0.0046	0.0045	0.0010	0.0011	0.0035	0.0003	0	0.0014	0.0068	0.0051	0.0038	0.0008	0.236	0.20381	T	0.148	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.009542	0.30309	N	0.282211	0.79151	0.34393	D	1.01	0.25309	L	-4.99	0.98507	D	-0.56	0.37759	N	0.148	0.15187	0.320	0.87869	D	0.728	0.90705	D	10	0.0061346292	0.00226	T	0.03456	0.55756	D	0.225	0.52323	0.718	0.85319	0.598950722394	0.59575	0.5055072432473939	0.50472	0.297566637379	0.32142	0.339848846197	0.16416	T	0.355552	0.72254	T	-0.249766	0.14126	T	-0.127822	0.61155	T	0.00495819392435207	0.00053	T	0.732227	0.47282	T	0.037615046	0.04856	0.042526096	0.05086	0.037615046	0.04856	0.042526096	0.05086	-5.321	0.40150	T	0.12676215551597242	0.12860	0.127	0.29283	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	1.319415	0.17233	13.04	0.97940415029161143	0.37028	0.75762	0.37112	D	AEFBI	0.262267	0.38004	N	-0.531824808102353	0.21057	1.114735	-0.322680728659568	0.27368	1.518104	0.00105108255013359	0.08159	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.3	0.50540	1.018000	0.29604	2.259000	0.31747	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.7593:0.0:0.0858:0.1549	5.342	0.15295	1	0.99630	Dystroglycan-type cadherin-like;.;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;Dystroglycan-type cadherin-like;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.012228	0.005848	0.000000	0.008621	0.006098	0.000000	0.05	729.43	36	chr3	49510792	.	G	C	729.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.081;DP=521;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.35;SOR=0.563	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr3	49663442	49663442	C	A	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon7:c.C11284A:p.P3762T	.	420	1078	24	0	0	24	0.0110092	.	.	.	2827428	not_provided|BSN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.066	0.0108063378822	0.0002	0.000798722	0.0012	0	0.0003	0	0	0.0004	0.0023	0.0066	0.0010026	155	154602	rs144229405	0.0006	0.0006	0.0005	0.0008	0.0067	0.0006	0.0006	0.0063	0.0061	0	0.0002	0.0023	5.038e-05	0	0.0019	0.0002	0.0007	0.0067	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0064	0.015	0.52492	D	0.06	0.45744	T	0.079	0.24468	B	0.095	0.30245	B	0.017031	0.27826	N	0.326424	1	0.08975	N	1.87	0.49600	L	2.29	0.17113	T	-1.58	0.38151	N	0.268	0.30347	-1.0552	0.12987	T	0.050	0.21182	T	10	0.0037391782	0.00069	T	0.010806	0.27768	T	0.066	0.19193	.	.	0.226560886239	0.22246	0.09192954584532985	0.09125	0.308978366714	0.33215	0.343515455723	0.16964	T	0.225006	0.58962	T	-0.558339	0.00260	T	-0.570927	0.15365	T	0.0306765184533137	0.02094	T	0.731327	0.34690	T	0.13208981	0.30767	0.108388096	0.26108	0.13208981	0.30767	0.108388096	0.26107	-3.832	0.21283	T	.	.	0.062	0.01309	B	.	.	2.739040	0.35869	20.1	0.7998964767988519	0.12993	0.74041	0.36216	D	AEFDGBI	0.354905	0.44682	N	-0.273314751723846	0.30181	1.680581	-0.219681796617042	0.30831	1.739349	0.999999987122754	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	3.791000	0.55173	2.663000	0.33894	0.599000	0.40250	0.515000	0.27072	0.083000	0.22416	0.994000	0.71098	0.0:1.0:0.0:0.0	17.099	0.86520	1	0.99630	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.007576	0.05	1433.43	36	chr3	49663442	.	C	A	1433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.487;DP=452;ExcessHet=0;FS=1.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.642;SOR=0.542	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1146	9	0	1	0
chr3	49674589	49674589	A	G	exonic	APEH	.	nonsynonymous SNV	APEH:NM_001640:exon2:c.A113G:p.Q38R	.	425	1073	24	0	0	24	0.0110599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0105875124332	0.0002	0.000798722	0.0022	0	0.0011	0	0	0.0006	0.0034	0.0081	0.000925	143	154602	rs373871160	0.0007	0.0007	0.0005	0.0008	0.0069	0.0006	0.0006	0.0064	0.0062	2.997e-05	0.0002	0.0023	5.132e-05	0	0.0022	0.0002	0.0008	0.0069	0.0004	0.0004	0.0003	0.0006	0.0072	0.0003	0.0003	0.0054	0.0047	2.404e-05	0	0.0005	0.0014	0	0	0.0034	0.0002	0	0.0072	0.214	0.20002	T	0.39	0.15746	T	0.026	0.19406	B	0.007	0.12992	B	0.000166	0.48594	D	0.184382	0.859709	0.35366	D	0.6	0.15550	N	0.95	0.43279	T	-0.68	0.23156	N	0.433	0.48042	-1.0567	0.12595	T	0.044	0.19111	T	10	0.0069631636	0.00158	T	0.010588	0.27302	T	0.123	0.34020	.	.	0.56205713848	0.55868	0.4088749442169822	0.40803	0.326912076486	0.34833	0.654809296131	0.60669	T	0.248251	0.61802	T	-0.419043	0.01734	T	-0.370838	0.36791	T	0.0676119346168108	0.08312	T	0.840116	0.52137	T	0.25801915	0.48849	0.31162238	0.57168	0.25801915	0.48849	0.31162238	0.57167	-1.76	0.02392	T	.	.	0.085	0.12655	B	.;.;.	.;.;.	4.853973	0.79367	27.1	0.9004736317270754	0.19334	0.76614	0.37589	D	ALL	0.546461	0.56055	D	-0.421080291024909	0.24731	1.33748	-0.203554513993897	0.31407	1.77722	0.999999999978632	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.94	3.76	0.42368	5.050000	0.64066	11.073000	0.85618	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.8577:0.0:0.0:0.1423	10.777	0.45553	1	0.99630	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002575	0.000000	0.000000	0.000000	0.000000	0.025862	0.006369	0.007576	0.05	365.43	34	chr3	49674589	.	A	G	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.396;DP=345;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.821;SOR=0.815	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1145	9	0	1	0
chr3	49685734	49685734	T	G	splicing	MST1	NM_020998:exon11:c.1251-2A>C	.	.	.	396	1048	78	0	0	78	0.0358786	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0022	0.0048	0.0020	0.0040	0.0032	0.0022	0.0038	0.0011902	184	154602	rs9714011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0312953	0.47230	T	-0.28273	0.46524	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.318552	0.66070	24.9	0.82760893892845555	0.14361	0.84942	0.44038	D	AEFDBCI	.	.	.	0.550271141106862	0.70098	5.451985	0.329790380301468	0.57298	3.894969	0.999999223157914	0.74766	0.199473	0.04044	0	0.09434	0.02614	0	0.215285	0.04585	0	0.109499	0.03221	0	0.244363	0.32384	5.22	4.06	0.46572	2.893000	0.48331	7.791000	0.68894	-0.114000	0.14653	0.998000	0.41325	1.000000	0.68203	0.017000	0.10941	0.1492:0.0819:0.0:0.7689	5.690	0.17097	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	674.14	34	chr3	49685734	.	T	G	674.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.942;DP=1000;ExcessHet=0.2348;FS=15.949;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.2;MQRankSum=-16.25;QD=1.13;ReadPosRankSum=-3.62;SOR=2.422	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:99:.:.:0,116,1452:.	8	0	2	0
chr3	49686750	49686750	C	G	exonic	MST1	.	nonsynonymous SNV	MST1:NM_020998:exon7:c.G781C:p.E261Q	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0221806078997	.	.	0.0031	0.0060	0.0034	0.0037	0	0.0027	0.0041	0.0031	0.00073	19	26028	rs201944579	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0035	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	9.895e-05	0	0.0005	0	0	9.99e-05	0	0.0002	0.0005	0.0002	0.487	0.08067	T	0.511	0.10785	T	0.575	0.38708	P	0.443	0.45803	B	0.288530	0.14811	N	0.531760	0.993125	0.81001	D	.	.	.	-0.3	0.67874	T	-0.54	0.16598	N	0.315	0.35514	-0.5302	0.67534	T	0.371	0.73016	T	10	0.02078408	0.00485	T	0.022181	0.45042	T	0.197	0.47942	.	.	0.801712144476	0.79986	0.5736695672780171	0.57295	0.763659519793	0.64390	0.596491217613	0.52408	T	.	.	.	0.0232016	0.54813	T	-0.204449	0.54224	T	0.0514656409417245	0.05755	T	0.593441	0.21910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31151	B	.	.	3.652228	0.51842	23.2	0.99617675938671457	0.75233	0.77796	0.38294	D	AEFBCI	0.664682	0.63376	D	0.408728035343709	0.61901	4.397673	0.486399716992331	0.67087	5.03744	0.99999999966497	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.391439	0.06340	0	0.56751	0.32155	0	.	.	5.75	5.75	0.90390	3.091000	0.49896	7.583000	0.61020	0.598000	0.34611	0.989000	0.36753	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	19.952	0.97204	1	0.99630	Kringle|Kringle, conserved site|Kringle|Kringle|Kringle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020142	0.035714	0.006925	0.030973	0.000000	0.017544	0.026515	0.020492	0.1	108.14	49	chr3	49686750	.	C	G	108.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=723;ExcessHet=0.2348;FS=40.423;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=47.86;MQRankSum=-3.87;QD=0.52;ReadPosRankSum=0.562;SOR=3.08	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	8	0	2	0
chr3	49699104	49699104	C	T	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon10:c.C763T:p.R255C	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	.	0.0010	0.00678914	0.0024	9.879e-05	0.0002	0.0270	0.0003	0.0005	0.0011	0.0010	0.0022574	349	154602	rs77308703	0.0011	0.0011	0.0011	0.0011	0.0252	0.0011	0.0011	0.0239	0.0234	0	0.0001	0	0.0252	0.0002	0.0002	0.0004	0.0013	0.0015	0.0013	0.0013	0.0013	0.0012	0.0249	0.0011	0.0011	0.0214	0.0201	9.622e-05	0	0.0001	0.0006	0.0249	0.0003	0	0.0006	0.0005	0.0023	0.002	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.818	0.58969	P	0.001021	0.40652	N	0.169409	0.999995	0.58761	D	0.975	0.24501	L	0.07	0.61677	T	-4.79	0.85994	D	0.736	0.77319	-0.6819	0.61284	T	0.132	0.44425	T	10	0.01085943	0.00240	T	.	.	.	0.421	0.73005	.	.	0.36413608308	0.36018	0.7467684133121505	0.74622	2.53311586542	0.97788	0.669216513634	0.62726	T	0.242668	0.61145	T	-0.181703	0.23483	T	-0.0141839	0.69412	D	0.0920635271677067	0.11460	T	0.973303	0.92154	D	0.325794	0.55124	0.30272943	0.56304	0.325794	0.55124	0.30272943	0.56303	-10.95	0.79383	D	.	.	0.326	0.54954	B	.;.	.;.	6.006670	0.94323	34	0.99895986615831722	0.96895	0.98201	0.80484	D	AEFBIJ	0.775792	0.70910	D	0.492682553541549	0.66661	4.979118	0.45270804668671	0.64890	4.75508	0.999968023995608	0.48965	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.51	3.65	0.40985	4.597000	0.60770	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1411:0.7233:0.1356:0.0	11.539	0.49905	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.015244	0.000000	0.05	648.43	34	chr3	49699104	.	C	T	648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.782;DP=418;ExcessHet=0;FS=6.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.683;SOR=0.228	GT:AD:DP:GQ:PL	0/0:43,0:43:93:0,93,1395	9	0	1	0
chr3	49723078	49723078	T	C	exonic	GMPPB	.	nonsynonymous SNV	GMPPB:NM_013334:exon4:c.A296G:p.E99G,GMPPB:NM_021971:exon4:c.A296G:p.E99G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1774001	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14|Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T	MONDO:MONDO:0014140,MedGen:C3809216,OMIM:615350,Orphanet:588|MONDO:MONDO:0014141,MedGen:C3809221,OMIM:615351|MONDO:MONDO:0014142,MedGen:C4518000,OMIM:615352,Orphanet:363623	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.0490878157543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.16903	T	0.508	0.10893	T	0.001	0.07471	B	0.008	0.13708	B	0.006199	0.32207	N	0.322199	0.999183	0.81001	D	-0.11	0.04642	N	-0.78	0.73631	T	-1.68	0.40082	N	0.371	0.45426	-0.8904	0.48899	T	0.141	0.46072	T	10	0.20036301	0.36080	T	0.049088	0.63658	D	0.197	0.47942	0.496	0.58520	0.638815175438	0.63584	0.32544358636516657	0.32457	0.645998904403	0.58027	0.601226568222	0.53077	T	0.505597	0.82416	D	-0.059007	0.43063	T	-0.322536	0.42296	T	0.666376113891602	0.39177	D	0.836716	0.50835	T	0.19559316	0.41354	0.2166425	0.46300	0.19559316	0.41354	0.2166425	0.46299	-4.23	0.27184	T	0.10877599314159113	0.09006	0.095	0.14842	B	.;.;.	.;.;.	3.988484	0.58685	24.0	0.96798053296875441	0.31139	0.81498	0.40889	D	AEFGBHCI	0.558629	0.56777	D	-0.499904294048186	0.22083	1.176713	-0.244627146180332	0.29956	1.682628	0.999999973897313	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.672317	0.60874	0	0.638787	0.57140	0	.	.	4.7	4.7	0.58776	3.953000	0.56407	7.847000	0.70787	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.336	0.59957	2	0.99499	Nucleotidyl transferase domain;Nucleotidyl transferase domain;Nucleotidyl transferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1218.43	47	chr3	49723078	.	T	C	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.054;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.282;SOR=0.653	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr3	49793178	49793178	G	C	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon13:c.C1757G:p.S586C	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0382643440431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.0	0.92824	D	0.998	0.73220	D	0.909	0.64565	D	.	.	.	.	0.730722	0.33716	D	2.675	0.78361	M	1.99	0.21666	T	-3.15	0.64132	D	0.705	0.70878	-0.9832	0.34258	T	0.088	0.33968	T	9	0.8071664	0.80042	D	0.038264	0.58119	D	0.262	0.57482	0.583	0.70990	0.488055169367	0.48438	0.5962366985233843	0.59553	0.231585736217	0.25714	0.410056918859	0.26465	T	0.194527	0.55033	T	-0.00474477	0.50998	T	-0.244592	0.50349	T	0.960277736186981	0.65760	D	0.665433	0.27458	T	0.20680329	0.42867	0.21172972	0.45613	0.20680329	0.42866	0.21172972	0.45612	-9.158	0.68708	D	.	.	0.201	0.42535	B	.	.	4.333181	0.66420	25.0	0.9891492476089182	0.48436	0.97524	0.75311	D	AEFGI	0.525217	0.54808	D	0.502562566161703	0.67241	5.055465	0.502225174607636	0.68140	5.179191	0.999999999808527	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.78	5.78	0.91418	5.426000	0.66214	11.775000	0.95959	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	16.986	0.86213	2	0.99499	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3144.43	35	chr3	49793178	.	G	C	3144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=531;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=0.688;SOR=0.547	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	0	1	0
chr3	49798873	49798873	G	A	exonic	CDHR4	.	nonsynonymous SNV	CDHR4:NM_001007540:exon4:c.C448T:p.R150W	.	412	1098	11	1	0	13	0.00588502	.	.	.	3292817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0648912581705	.	.	0.0001	0	8.98e-05	0	0	6.17e-05	0.0011	0.0004	7.76e-05	12	154602	rs757284426	8.826e-05	8.893e-05	6.807e-05	0.0001	0.0009	7.556e-05	7.102e-05	0.0005	0.0004	0	0.0004	0	0	0	0.0009	4.497e-05	0.0001	0.0006	0.0002	0.0002	0.0001	0.0003	0.0021	0.0001	0.0001	0.0011	0.0009	2.407e-05	0	0.0010	0	0	0	0	1.47e-05	0.0005	0.0021	0.174	0.42487	T	0.027	0.55341	D	0.993	0.68779	D	0.548	0.52381	P	.	.	.	.	1	0.08975	N	1.7	0.43825	L	0.43	0.56772	T	-2.18	0.64246	N	0.337	0.37820	-1.0721	0.08957	T	0.054	0.23034	T	9	0.13008124	0.24755	T	0.064891	0.69415	D	0.114	0.32008	0.549	0.66436	0.321951552304	0.31805	0.2815806244629813	0.28071	0.0731342430252	0.08196	0.244320109487	0.03193	T	0.151213	0.49105	T	-0.384971	0.02897	T	-0.454501	0.27201	T	0.0436726099490868	0.04360	T	0.861714	0.55578	D	0.075667776	0.17063	0.08783108	0.20439	0.075667776	0.17063	0.08783108	0.20439	-6.545	0.50633	T	.	.	0.088	0.14614	B	.;.	.;.	1.421024	0.18380	13.70	0.99819624502397142	0.90238	0.08500	0.14421	N	AEFDBI	0.111530	0.22079	N	-0.831311963618236	0.12514	0.6104934	-0.861418357148815	0.13013	0.6727184	0.999942491101769	0.47345	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.81	0.456	0.15868	-0.024000	0.12382	0.005000	0.13351	-0.264000	0.06851	0.000000	0.06391	0.000000	0.08366	0.464000	0.28207	0.0:0.135:0.4495:0.4155	8.860	0.34412	2	0.99499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	3716.14	38	chr3	49798873	.	G	A	3716.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.42;DP=632;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.294;SOR=0.717	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1452	8	0	2	0
chr3	49813066	49813066	C	T	exonic	UBA7	.	nonsynonymous SNV	UBA7:NM_003335:exon4:c.G463A:p.V155M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0373249563241	0.0007	0.000399361	0.0003	9.771e-05	0.0002	0	0	0.0004	0	0.0007	0.0003687	57	154602	rs140891266	0.0008	0.0008	0.0008	0.0008	0.0009	0.0007	0.0007	0.0009	0.0009	0.0001	0.0003	0	0	0	0	0.0009	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	9.625e-05	0	0.0001	0	0.0002	0	0	0.0006	0.0005	0.0004	0.001	0.78490	D	0.016	0.60972	D	0.95	0.53885	P	0.608	0.51027	P	0.023209	0.26485	N	0.416065	0.650228	0.32957	D	2.075	0.57047	M	1.53	0.30401	T	0.15	0.05310	N	0.432	0.47115	-0.8723	0.50356	T	0.085	0.33014	T	10	0.19358513	0.35135	T	0.037325	0.57547	D	0.096	0.27654	.	.	0.367425347029	0.36354	0.3398301860689847	0.33896	0.393638441678	0.40536	0.422733604908	0.28212	T	0.078345	0.35870	T	-0.446251	0.01188	T	-0.454318	0.27220	T	0.130695988151273	0.15446	T	0.864214	0.56114	D	0.12864125	0.30069	0.14440024	0.34283	0.12864125	0.30068	0.14440024	0.34282	-7.38	0.56764	T	.	.	0.199	0.42215	B	.	.	2.626147	0.34140	19.54	0.99791434733907824	0.87750	0.78913	0.39008	D	AEFDBI	0.358475	0.44914	N	0.0625665483445217	0.44722	2.741143	-0.0108609711252325	0.39223	2.322389	0.999999564120201	0.74766	0.653281	0.48532	0	0.685571	0.66316	0	0.547309	0.15389	0	0.669	0.65921	0	.	.	5.04	4.17	0.48303	2.745000	0.47134	1.774000	0.28659	0.596000	0.33519	0.977000	0.34929	0.918000	0.28264	0.234000	0.22842	0.1632:0.7537:0.0:0.0831	7.636	0.27431	1	0.99630	THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	482.43	34	chr3	49813066	.	C	T	482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.962;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=-0.849;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1432	9	0	1	0
chr3	49903228	49903228	C	T	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon1:c.G382A:p.A128T,MST1R:NM_001318913:exon1:c.G382A:p.A128T,MST1R:NM_002447:exon1:c.G382A:p.A128T	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00981177451762	.	.	8.465e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs769845082	3.436e-06	4.104e-06	4.104e-06	2.762e-06	1.159e-05	1.01e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	3.314e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.11156	T	0.39	0.32355	T	0.917	0.50750	P	0.18	0.35854	B	0.823413	0.09161	N	0.926907	1	0.08975	N	1.54	0.38927	L	2.86	0.10482	T	-0.91	0.27669	N	0.134	0.19325	-1.0561	0.12750	T	0.031	0.13242	T	10	0.0857507	0.14508	T	0.009812	0.25586	T	0.111	0.31313	0.318	0.29581	0.270889551736	0.26708	0.3988196515856671	0.39796	0.312029139703	0.33506	0.320726573467	0.13531	T	0.050043	0.28480	T	-0.342505	0.05217	T	-0.629131	0.10480	T	0.228234186768532	0.21867	T	0.877212	0.60027	D	0.15953326	0.35832	0.19206059	0.42700	0.15953326	0.35831	0.19206059	0.42699	-4.58	0.32372	T	.	.	0.085	0.17402	B	.;.;.;.	.;.;.;.	1.978371	0.25134	16.65	0.95796381212897763	0.27844	0.17317	0.19784	N	AEFDGBHCI	0.188299	0.31557	N	-0.292953244059772	0.29419	1.631291	-0.388290375777704	0.25345	1.39325	0.999999951714329	0.74766	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	4.96	4.02	0.45968	0.535000	0.22822	3.208000	0.36786	0.599000	0.40250	0.000000	0.06391	0.149000	0.23162	0.972000	0.54974	0.2335:0.6435:0.123:0.0	10.363	0.43191	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema domain;Sema domain|Sema domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2110.43	36	chr3	49903228	.	C	T	2110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.788;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.467;SOR=0.721	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr3	49967940	49967940	C	T	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.C515T:p.P172L	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0100298902649	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs142246877	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0027	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.001	0.78490	D	0.021	0.64786	D	0.321	0.33029	B	0.062	0.26930	B	0.000894	0.41231	D	0.109289	0.999863	0.81001	D	1.65	0.42232	L	1.43	0.34452	T	-1.85	0.50992	N	0.486	0.52029	-1.0993	0.04177	T	0.083	0.32440	T	9	0.004526913	0.00093	T	0.01003	0.26080	T	0.083	0.24192	.	.	0.15499578495	0.15088	0.14153409268837117	0.14076	0.305705308733	0.32871	0.419859230518	0.27816	T	0.042636	0.26245	T	-0.382983	0.02983	T	-0.319179	0.42666	T	0.0381481344631312	0.03359	T	0.770723	0.40088	T	0.08188415	0.18837	0.20852245	0.45158	0.08188415	0.18837	0.20852245	0.45157	-5.356	0.40494	T	.	.	0.103	0.24599	B	.;.	.;.	3.351299	0.46229	22.3	0.99153785998759991	0.53903	0.90023	0.50882	D	AEFBI	0.339796	0.43682	N	0.143595569422062	0.48509	3.062314	0.316290365851008	0.56498	3.813063	0.999999963288483	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	4.948000	0.63290	3.916000	0.40440	0.599000	0.40250	0.957000	0.33433	0.985000	0.30750	0.998000	0.85391	0.0:1.0:0.0:0.0	20.241	0.98374	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.010870	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1344.43	49	chr3	49967940	.	C	T	1344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.342;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.441;SOR=0.699	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1063	9	0	1	0
chr3	49968422	49968422	G	A	exonic	RBM6	.	nonsynonymous SNV	RBM6:NM_005777:exon3:c.G997A:p.E333K	.	431	1075	16	0	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.0143845706614	0.0034	0.000998403	0.0030	0.0010	0.0009	0	0.0015	0.0048	0.0022	0.0012	0.0032988	510	154602	rs143972186	0.0049	0.0049	0.0049	0.0048	0.0073	0.0048	0.0047	0.0056	0.0056	0.0011	0.0018	0.0003	0	0.0019	0.0073	0.0058	0.0045	0.0016	0.0030	0.0030	0.0031	0.0028	0.0051	0.0028	0.0027	0.0046	0.0045	0.0011	0.0011	0.0020	0.0003	0	0.0014	0.0102	0.0051	0.0038	0.0006	0.003	0.68238	D	0.029	0.60972	D	0.997	0.70673	D	0.985	0.76457	D	0.000098	0.51296	D	0.128334	0.999955	0.81001	D	1.67	0.42885	L	1.11	0.38883	T	-0.85	0.26843	N	0.602	0.62781	-0.9783	0.35390	T	0.157	0.48976	T	9	0.009088129	0.00206	T	0.014385	0.34475	T	0.185	0.45933	.	.	0.452650218784	0.44890	0.11714516375178394	0.11642	0.724846526864	0.62416	0.580195665359	0.50113	T	0.024564	0.18538	T	-0.218656	0.18177	T	-0.0831343	0.64675	T	0.0142588193611451	0.00283	T	0.941106	0.80130	D	0.2278714	0.45495	0.30712542	0.56735	0.2278714	0.45495	0.30712542	0.56734	-5.463	0.41521	T	.	.	0.097	0.24767	B	.;.	.;.	4.537798	0.71295	25.7	0.99890397515720919	0.96436	0.96020	0.67171	D	AEFBI	0.584761	0.58345	D	0.581729494852184	0.72037	5.742766	0.632814666593863	0.77337	6.65978	0.999999901186462	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	5.689000	0.67897	11.683000	0.94248	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0698:0.0:0.9302:0.0	13.733	0.62284	1	0.99630	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.010870	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1926.43	49	chr3	49968422	.	G	A	1926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.13;DP=495;ExcessHet=0;FS=0.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.43;SOR=0.75	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1063	9	0	1	0
chr3	50275704	50275704	G	C	splicing	SEMA3B	NM_004636:exon17:c.1706-1G>C;NM_001005914:exon17:c.1703-1G>C;NM_001290060:exon16:c.1706-1G>C;NM_001290061:exon16:c.1721-1G>C;NM_001290063:exon10:c.677-1G>C;NM_001290062:exon10:c.677-1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.376e-06	0	0	0	0	0	0	6.149e-05	6.5e-06	1	154602	.	3.424e-06	3.42e-06	1.362e-06	5.509e-06	4.643e-05	1e-06	7.3e-07	1.584e-05	9.3e-06	0	0	0	0	0	0	9.001e-07	0	4.643e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0552533	0.59015	T	0.023119	0.71833	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	4.541260	0.71388	25.7	0.98774409857592782	0.46017	0.58719	0.30718	D	AEFDBCIJ	.	.	.	-0.0376821476394055	0.40155	2.379861	-0.0460293388955134	0.37663	2.208228	0.999982348814409	0.51787	0.199473	0.04044	0	0.109994	0.03358	0	0.215285	0.04585	0	0.109499	0.03221	0	0.860406	0.52758	5.13	4.19	0.48645	1.772000	0.38182	11.586000	0.93374	0.672000	0.70159	0.098000	0.22752	1.000000	0.68203	0.145000	0.20128	0.0:0.0:0.8:0.2	10.085	0.41583	3	0.99430	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1972.43	36	chr3	50275704	.	G	C	1972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=483;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-0.793;SOR=0.798	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1051	9	0	1	0
chr3	50276374	50276374	G	A	exonic	SEMA3B	.	nonsynonymous SNV	SEMA3B:NM_001290062:exon11:c.G889A:p.G297S,SEMA3B:NM_001290063:exon11:c.G889A:p.G297S,SEMA3B:NM_001290060:exon17:c.G1918A:p.G640S,SEMA3B:NM_001290061:exon17:c.G1933A:p.G645S,SEMA3B:NM_001005914:exon18:c.G1915A:p.G639S,SEMA3B:NM_004636:exon18:c.G1918A:p.G640S	.	.	.	.	.	.	.	.	.	.	.	3215578	SEMA3B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.435	.	.	0.000998403	0.0007	0	0	0	.	0	0	0.0010	8.41e-05	13	154602	rs587686284	0.0001	9.85e-05	4.994e-05	0.0002	0.0017	8.85e-05	8.363e-05	0.0015	0.0014	0	0	0	0	0	0	9.28e-07	5.195e-05	0.0017	4.597e-05	4.593e-05	2.57e-05	6.715e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	.	.	.	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.79214	0.068	0.83572	D	0.425	0.76863	T	7	0.19554836	0.35410	T	.	.	.	.	.	0.632	0.76810	0.42526943336	0.42144	0.9121786153847298	0.91191	.	.	0.871674418449	0.92806	D	0.256718	0.62766	T	-0.276586	0.11032	T	-0.1947	0.55147	T	0.385251686196626	0.28384	T	0.956904	0.83996	D	0.42504752	0.62426	0.55936986	0.74508	0.42504752	0.62427	0.55936986	0.74508	-9.97	0.73984	D	.	.	0.712	0.74042	P	.;.;.;.;.;.	.;.;.;.;.;.	5.298214	0.88949	29.8	0.99792110101174114	0.87750	0.90584	0.51881	D	AEFDBHCIJ	.	.	.	0.490094081989714	0.66508	4.959463	0.412145614739931	0.62322	4.445526	1.0	0.98316	0.169504	0.03952	1	0.096583	0.02683	0	0.182222	0.04375	1	0.085113	0.02366	1	0.941156	0.60275	4.62	4.62	0.56946	6.280000	0.72654	11.568000	0.93268	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:0.0:1.0:0.0	12.981	0.57966	3	0.99430	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	517.43	33	chr3	50276374	.	G	A	517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.464;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.009;SOR=0.84	GT:AD:DP:GQ:PL	0/1:28,23:51:99:529,0,640	9	0	1	0
chr3	50288267	50288267	A	T	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon12:c.T1253A:p.L418Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.245652776036	.	0.000599042	0.0001	0	0	0	0	0	0	0.0010	0.0001294	20	154602	rs587699046	0.0001	0.0001	5.174e-05	0.0002	0.0017	8.85e-05	8.335e-05	0.0015	0.0014	0	0	0	0	0	0	8.996e-07	4.97e-05	0.0017	4.597e-05	4.593e-05	2.57e-05	6.716e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	0.035	0.72154	D	0.005	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000015	0.62929	D	0.069835	0.999996	0.58761	D	2.275	0.64647	M	0.59	0.53943	T	-3.62	0.76980	D	0.686	0.69213	-0.3462	0.73664	T	0.348	0.71281	T	10	0.08955896	0.15525	T	0.245653	0.88895	D	0.544	0.81018	.	.	0.87502474538	0.87380	0.45100911799471266	0.45018	.	.	0.718858361244	0.69880	T	0.143534	0.47969	T	-0.147053	0.28775	T	-0.0193854	0.69069	D	0.253626546646913	0.23035	T	0.941706	0.78221	D	0.4977547	0.66963	0.48287055	0.70058	0.4977547	0.66964	0.48287055	0.70059	-9.36	0.69984	D	.	.	0.377	0.58269	A	.;.;.	.;.;.	4.916468	0.80938	27.4	0.99529655173696641	0.69777	0.98445	0.82852	D	AEFBCI	0.936558	0.93307	D	0.778937979124553	0.84770	8.381941	0.730359712782309	0.84684	8.361063	0.999995722686411	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	4.78	0.60666	8.714000	0.91109	11.132000	0.86827	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9225:0.0:0.0775:0.0	10.243	0.42501	3	0.99430	Interferon-related developmental regulator, C-terminal;Interferon-related developmental regulator, C-terminal;Interferon-related developmental regulator, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	934.43	33	chr3	50288267	.	A	T	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.281;DP=398;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.17;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,40:81:99:946,0,1068	9	0	1	0
chr3	50289579	50289579	T	C	exonic	IFRD2	.	nonsynonymous SNV	IFRD2:NM_006764:exon7:c.A647G:p.Y216C	.	429	1072	20	1	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0049	0.00239617	0.0071	0.0013	0.0050	0.0004	0.0014	0.0105	0.0078	0.0045	0.0036998	572	154602	rs34364099	0.0058	0.0058	0.0058	0.0059	0.0065	0.0057	0.0057	0.0064	0.0064	0.0008	0.0023	0.0098	7.847e-05	0.0007	0.0064	0.0065	0.0060	0.0045	0.0043	0.0043	0.0045	0.0042	0.0062	0.0041	0.0040	0.0057	0.0055	0.0011	0.0768	0.0029	0.0104	0.0002	0.0007	0.0034	0.0062	0.0047	0.0044	0.183	0.21718	T	0.095	0.39492	T	0.008	0.14655	B	0.009	0.14300	B	0.000747	0.42006	N	0.283664	0.998617	0.45166	D	0.335	0.10427	N	-0.12	0.64630	T	-4.4	0.77308	D	0.11	0.09772	-0.9694	0.37324	T	0.116	0.40942	T	10	0.0038838685	0.00074	T	.	.	.	0.138	0.37187	.	.	0.695661859615	0.69303	0.12998815443157535	0.12923	.	.	0.331011980772	0.15088	T	0.197609	0.55434	T	-0.46194	0.00956	T	-0.432176	0.29688	T	0.0182960750494103	0.00548	T	0.715628	0.32820	T	0.20409873	0.42509	0.18446688	0.41501	0.20409873	0.42509	0.18446688	0.41500	-6.108	0.47174	T	.	.	0.047	0.00109	B	.;.	.;.	1.218396	0.16123	12.33	0.57756060330256087	0.05840	0.36228	0.25485	N	AEFBCI	0.083179	0.16849	N	-0.708489046188582	0.15783	0.7984209	-0.660277316162749	0.17958	0.957195	0.999834550519059	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	2.51	0.29435	2.062000	0.41039	0.720000	0.21004	-0.218000	0.08083	0.953000	0.33222	0.168000	0.23319	0.198000	0.21837	0.0:0.7363:0.0:0.2637	8.777	0.33924	3	0.99430	Interferon-related developmental regulator, N-terminal;Interferon-related developmental regulator, N-terminal	.	.	.	.	rs34364099	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.05	1698.43	33	chr3	50289579	.	T	C	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.484;DP=477;ExcessHet=0;FS=1.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.216;SOR=0.79	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1239	9	0	1	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H,HYAL3:NM_001200030:exon2:c.G533A:p.R178H,HYAL3:NM_003549:exon2:c.G533A:p.R178H	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.005051	0.012228	0.029240	0.000000	0.017241	0.018293	0.015152	0.1	2143.14	37	chr3	50295070	.	C	T	2143.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.88;DP=450;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.6;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	8	0	2	0
chr3	50300616	50300616	G	A	exonic	HYAL1	.	nonsynonymous SNV	HYAL1:NM_153282:exon3:c.C1085T:p.T362M,HYAL1:NM_033159:exon4:c.C1175T:p.T392M,HYAL1:NM_153283:exon4:c.C629T:p.T210M,HYAL1:NM_153285:exon4:c.C398T:p.T133M,HYAL1:NM_153281:exon6:c.C1175T:p.T392M	.	0	1515	7	0	0	7	0.00230491	.	.	.	291154	HYAL1-related_disorder|Deficiency_of_hyaluronoglucosaminidase|not_provided	.|MONDO:MONDO:0011093,MedGen:C1291490,OMIM:601492,Orphanet:67041|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.0133786	0.0061	0.0005	0.0005	0.0731	0	0.0006	0.0022	0.0036	0.0057567	890	154602	rs117179004	0.0021	0.0021	0.0021	0.0020	0.0526	0.0020	0.0020	0.0507	0.0499	0.0002	0.0004	3.826e-05	0.0526	0.0001	0.0009	0.0002	0.0055	0.0043	0.0029	0.0029	0.0025	0.0033	0.0696	0.0027	0.0026	0.0637	0.0614	0.0007	0	0.0005	0	0.0696	0	0	0.0001	0.0028	0.0058	0.145	0.28520	T	0.11	0.38016	T	0.972	0.64738	D	0.155	0.49695	B	0.004492	0.01028	N	2.767310	1	0.08975	N	1.995	0.54099	M	2.23	0.31470	T	-1.27	0.39692	N	0.087	0.13341	-1.0552	0.12987	T	0.009	0.03183	T	10	0.0025167465	0.00038	T	.	.	.	0.049	0.13647	.	.	0.315903272564	0.31202	0.5541361122987098	0.55340	0.209876500968	0.23465	0.262945413589	0.05246	T	0.318882	0.69021	T	-0.639758	0.00084	T	-0.631732	0.10285	T	0.00499110187345481	0.00054	T	0.534247	0.19673	T	0.056610126	0.11161	0.06826712	0.14233	0.07150101	0.15833	0.062995665	0.12413	-5.045	0.40900	T	.	.	0.077	0.09336	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.151886	0.05437	1.911	0.99102226227544155	0.52496	0.09704	0.15400	N	AEFDGBHCI	0.256514	0.37542	N	-0.617990828847728	0.18404	0.9552193	-0.813921294950261	0.14158	0.738361	0.999999993924381	0.74766	0.696267	0.57585	0	0.475579	0.06741	0	0.691665	0.62940	0	0.635259	0.50027	0	.	.	5.15	-1.02	0.09618	-0.433000	0.07017	-2.770000	0.03379	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.1663:0.0:0.3719:0.4618	5.792	0.17630	3	0.99430	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1151.43	106	chr3	50300616	.	G	A	1151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.06;DP=417;ExcessHet=0;FS=4.991;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.518;SOR=0.36	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	9	0	1	0
chr3	50331440	50331440	C	T	exonic	RASSF1	.	nonsynonymous SNV	RASSF1:NM_001206957:exon4:c.G317A:p.R106Q,RASSF1:NM_170713:exon4:c.G560A:p.R187Q,RASSF1:NM_007182:exon5:c.G770A:p.R257Q,RASSF1:NM_170712:exon5:c.G317A:p.R106Q,RASSF1:NM_170714:exon5:c.G782A:p.R261Q	Lung cancer, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0463555620896	0.0024	0.00159744	0.0023	0.0008	0.0015	0	0.0009	0.0034	0.0035	0.0009	0.0022445	347	154602	rs150999288	0.0022	0.0022	0.0022	0.0023	0.0026	0.0022	0.0022	0.0025	0.0025	0.0003	0.0021	0.0001	0	0.0015	0.0021	0.0026	0.0019	0.0009	0.0017	0.0017	0.0019	0.0015	0.0027	0.0015	0.0015	0.0024	0.0023	0.0004	0	0.0022	0	0.0002	0.0012	0.0034	0.0027	0.0028	0.0010	0.425	0.11050	T	0.385	0.15939	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	1.21	0.37230	T	-1.16	0.34596	N	0.286	0.36779	-0.9338	0.43575	T	0.157	0.48875	T	10	0.0109910965	0.00242	T	0.046356	0.62419	D	0.221	0.51721	.	.	0.675001386424	0.67224	0.743750890469516	0.74321	1.21827803799	0.81024	0.566650152206	0.48205	T	0.113584	0.43073	T	-0.241745	0.15128	T	-0.121183	0.61706	T	0.0162459454789214	0.00397	T	0.90251	0.69206	D	0.14768428	0.33750	0.14686736	0.34778	0.14768428	0.33750	0.14686736	0.34778	-10.494	0.76813	D	.	.	0.330	0.55229	B	.;.;.;.;.	.;.;.;.;.	5.477736	0.91342	32	0.99929507130667894	0.99279	0.95668	0.65651	D	AEFBCI	0.619189	0.60472	D	0.513604487614475	0.67895	5.142977	0.524830972381729	0.69666	5.392965	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	3.280000	0.51382	5.951000	0.51650	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.710000	0.34452	0.0:1.0:0.0:0.0	18.089	0.89398	2	0.99499	.;.;.;Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1953.43	34	chr3	50331440	.	C	T	1953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=0.339;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1125	9	0	1	0
chr3	52211507	52211507	G	A	exonic	ALAS1	.	nonsynonymous SNV	ALAS1:NM_001304443:exon9:c.G1555A:p.G519S,ALAS1:NM_199166:exon9:c.G1555A:p.G519S,ALAS1:NM_000688:exon10:c.G1555A:p.G519S,ALAS1:NM_001304444:exon10:c.G1606A:p.G536S	.	.	.	.	.	.	.	.	.	.	.	3263817	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.135411513482	0.0002	.	4.12e-05	0	0	0	0	5.998e-05	0	6.056e-05	4.53e-05	7	154602	rs370684990	6.567e-05	6.567e-05	7.759e-05	5.363e-05	0.0002	5.495e-05	5.107e-05	6.409e-05	5.909e-05	0	0	0	0	0	0.0002	7.734e-05	4.967e-05	6.956e-05	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0002	1.714e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.011	0.55530	D	0.034	0.52727	D	0.136	0.27347	B	0.141	0.33616	B	0.000000	0.84330	D	0.048629	1	0.81001	D	3.465	0.92394	M	-4.29	0.97149	D	-5.79	0.88065	D	0.45	0.48780	0.321	0.87887	D	0.553	0.83654	D	10	0.5938431	0.66530	D	0.135412	0.81787	D	0.852	0.95433	.	.	0.912867523777	0.91199	0.7958503769393782	0.79538	0.251119777169	0.27690	0.62674343586	0.56683	T	0.919284	0.98542	D	0.180041	0.72046	D	0.257509	0.85978	D	0.804172515869141	0.46639	D	0.940006	0.77317	D	0.67095107	0.76484	0.74655086	0.85019	0.67095107	0.76485	0.74655086	0.85019	-11.036	0.79855	D	.	.	0.232	0.49988	B	.;.;.;.	.;.;.;.	4.000281	0.58941	24.0	0.99719988056437869	0.81984	0.97599	0.75810	D	AEFBCI	0.921465	0.89498	D	0.535118502417407	0.69183	5.320747	0.54236281247612	0.70867	5.568877	0.999999999986138	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.0	0.66209	6.890000	0.75451	6.601000	0.56056	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0674:0.0:0.9326:0.0	15.282	0.73491	277	0.89083	Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase;Aminotransferase, class I/classII|Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1484.43	35	chr3	52211507	.	G	A	1484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-1.155;SOR=0.764	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1232	9	0	1	0
chr3	52221743	52221743	C	T	exonic	TLR9	.	nonsynonymous SNV	TLR9:NM_017442:exon2:c.G2573A:p.G858E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0160883050402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.01	0.65728	D	0.544	0.37968	P	0.079	0.28749	B	0.209681	0.03378	N	1.856050	1	0.08975	N	2.76	0.80626	M	1.79	0.25509	T	-2.25	0.50337	N	0.3	0.33904	-1.0179	0.24398	T	0.042	0.18160	T	10	0.18391663	0.33741	T	0.016088	0.37172	T	0.068	0.19811	0.375	0.38830	0.589546583947	0.58630	0.6669770428317455	0.66635	0.727271124552	0.62562	0.354756116867	0.18620	T	0.364322	0.72993	T	-0.113871	0.34130	T	-0.401344	0.33228	T	0.535715281963348	0.33945	D	0.825817	0.48860	T	0.054277245	0.10392	0.0760352	0.16798	0.054277245	0.10391	0.0760352	0.16798	-6.69	0.51735	T	.	.	0.107	0.20196	B	.	.	1.902449	0.24163	16.29	0.99114032999827495	0.52802	0.09727	0.15418	N	AEFDGBI	0.118765	0.23209	N	-0.678694206303335	0.16630	0.848966	-0.716763769146747	0.16544	0.8756581	0.992702667317265	0.32938	0.732398	0.92422	0	0.743671	0.97443	0	0.578056	0.29568	0	0.622129	0.49086	0	.	.	5.1	2.14	0.26518	0.422000	0.21016	1.660000	0.27894	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.151000	0.20341	0.1474:0.5309:0.1439:0.1778	2.703	0.04836	163	0.93656	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	6006.14	38	chr3	52221743	.	C	T	6006.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.502;DP=834;ExcessHet=0.2348;FS=0.532;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.328;SOR=0.746	GT:AD:DP:GQ:PL	0/1:107,115:222:99:2851,0,2551	8	0	2	0
chr3	52291039	52291039	C	T	exonic	GLYCTK	.	nonsynonymous SNV	GLYCTK:NM_001144951:exon3:c.C457T:p.R153W,GLYCTK:NM_145262:exon3:c.C457T:p.R153W	D-glyceric aciduria, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	513540	not_provided|D-Glyceric_aciduria	MedGen:C3661900|MONDO:MONDO:0009070,MedGen:C0342765,OMIM:220120,Orphanet:941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	0.0537849602426	.	0.000998403	0.0008	0	0.0003	0	0	9.05e-05	0	0.0054	0.000705	109	154602	rs199906865	0.0004	0.0004	0.0002	0.0007	0.0063	0.0004	0.0004	0.0059	0.0057	8.961e-05	0.0003	0	2.519e-05	0	0.0007	3.237e-05	0.0004	0.0063	0.0002	0.0002	0.0001	0.0003	0.0037	0.0001	0.0001	0.0024	0.0020	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0.0037	0.004	0.68238	D	0.014	0.69154	D	1.0	0.90584	D	0.967	0.71530	D	0.012929	0.29007	N	0.369705	0.799269	0.34489	D	2.37	0.68279	M	0.84	0.47477	T	-3.16	0.67359	D	0.556	0.65074	-0.4854	0.69173	T	0.249	0.61797	T	10	0.015844643	0.00333	T	0.053785	0.65605	D	0.222	0.51872	.	.	0.780631358594	0.77861	0.6017188784880549	0.60102	0.466306968941	0.46040	0.454500436783	0.32559	T	0.306036	0.67826	T	-0.377627	0.03224	T	-0.312877	0.43348	T	0.11398430062026	0.13831	T	0.973703	0.90499	D	0.23978326	0.46873	0.27480632	0.53412	0.3116373	0.53928	0.30581847	0.56607	-7.351	0.63765	T	0.4441635810553473	0.52914	0.171	0.42934	B	.;.;.;.;.;.	.;.;.;.;.;.	3.678371	0.52339	23.2	0.99822702653012096	0.90502	0.68984	0.34010	D	AEFDBCI	0.761068	0.69889	D	-0.002109385934802	0.41759	2.503677	-0.134716402862437	0.34003	1.951055	0.999986759455386	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.12	3.24	0.36257	1.095000	0.30575	1.520000	0.27085	-0.180000	0.10397	1.000000	0.71638	0.842000	0.27309	0.002000	0.04165	0.5211:0.3649:0.114:0.0	9.381	0.37476	86	0.96395	MOFRL-associated domain;.;.;MOFRL-associated domain;MOFRL-associated domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1082.43	33	chr3	52291039	.	C	T	1082.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=460;ExcessHet=0;FS=0.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.417;SOR=0.607	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1469	9	0	1	0
chr3	52292342	52292342	A	G	exonic	GLYCTK	.	nonsynonymous SNV	GLYCTK:NM_145262:exon5:c.A788G:p.N263S	D-glyceric aciduria, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1400155	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00333253302706	0.0002	.	9.099e-05	0.0002	8.663e-05	0	0	4.517e-05	0	0.0003	7.76e-05	12	154602	rs148349115	6.431e-05	6.43e-05	5.718e-05	7.151e-05	0.0005	5.362e-05	4.976e-05	0.0004	0.0003	0.0002	0.0002	0	5.038e-05	0	0.0005	2.248e-05	8.279e-05	0.0005	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	.	.	2.414e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	0.683	0.06406	T	0.0	0.02946	B	0.004	0.10090	B	0.828489	0.09124	N	0.937593	0.999579	0.47641	D	.	.	.	1.06	0.39781	T	0.83	0.02480	N	0.168	0.17828	-1.0592	0.11956	T	0.076	0.30460	T	9	0.011096388	0.00244	T	0.003333	0.07421	T	0.071	0.20720	.	.	0.173771789658	0.16945	0.29059048901301426	0.28972	0.0808623515177	0.09103	0.355872184038	0.18783	T	0.016417	0.13572	T	-0.611092	0.00125	T	-0.75919	0.03142	T	0.00908952280949185	0.00114	T	0.754025	0.37642	T	0.020402124	0.00598	0.047066905	0.06697	0.020402124	0.00598	0.047066905	0.06697	-0.758	0.00767	T	0.05573958712249385	0.01256	0.059	0.01428	B	.;.;.	.;.;.	-1.338768	0.00406	0.008	0.54147784823581957	0.05080	0.10532	0.16013	N	AEFBCI	0.053031	0.09519	N	-1.42496403912975	0.02421	0.1068776	-1.48719248836718	0.02449	0.1126524	0.999999819678837	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.64	-7.64	0.01146	-0.256000	0.08778	-1.691000	0.04907	-0.641000	0.04447	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.3378:0.0:0.6622:0.0	18.790	0.91933	86	0.96395	MOFRL-associated domain;MOFRL-associated domain;MOFRL-associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3268.43	35	chr3	52292342	.	A	G	3268.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.146;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.935;SOR=0.668	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr3	52480508	52480508	C	T	exonic	NISCH	.	stopgain	NISCH:NM_001276293:exon13:c.C1741T:p.Q581X	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0.0005	0	0.0011	4.53e-05	7	154602	rs771939154	7.033e-05	6.84e-05	4.908e-05	9.223e-05	0.0005	5.884e-05	5.469e-05	0.0003	0.0003	0	3.167e-05	4.181e-05	0	0	0.0004	5.044e-05	3.51e-05	0.0005	5.908e-05	5.905e-05	3.854e-05	8.055e-05	0.0006	3.075e-05	2.208e-05	0.0002	8.992e-05	0	0	6.533e-05	0	0	0	0	7.35e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	.	.	.	0.13	0.12484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.628068	0.00098	T	-0.799404	0.01917	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625966	0.09942	6.701	0.86646642420493614	0.16677	0.05819	0.11758	N	AEFDBCI	0.022994	0.01221	N	-0.679702057680217	0.16601	0.8472618	-0.877095693867154	0.12638	0.6512352	0.967084514409668	0.28951	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.22	-2.38	0.06243	0.175000	0.16577	-1.953000	0.04442	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.290000	0.24260	0.3081:0.298:0.0:0.3939	3.135	0.06050	73	0.96914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1485.43	33	chr3	52480508	.	C	T	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=422;ExcessHet=0;FS=1.537;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.09;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	9	0	1	0
chr3	52488109	52488109	G	A	exonic	NISCH	.	nonsynonymous SNV	NISCH:NM_007184:exon16:c.G2617A:p.G873R	.	.	.	.	.	.	.	.	.	.	.	3556182	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.105	0.0059423537355	.	.	1.713e-05	0	0	0	0	1.57e-05	0	6.112e-05	1.29e-05	2	154602	rs770301540	2.807e-05	2.805e-05	2.861e-05	2.752e-05	3.478e-05	2.088e-05	1.88e-05	2.37e-05	2.103e-05	0	2.237e-05	0	2.519e-05	0	0	3.238e-05	0	3.478e-05	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.002	0.72154	D	0.002	0.79402	D	0.995	0.67487	D	0.662	0.52860	P	0.002568	0.36316	N	0.267717	0.995009	0.42504	D	0.805	0.20218	L	3.09	0.08371	T	-1.99	0.45949	N	0.402	0.44666	-1.0846	0.06480	T	0.021	0.08917	T	10	0.2373397	0.40832	T	0.005942	0.15490	T	0.105	0.29889	0.35	0.34760	0.23524818089	0.23142	0.47909427520745856	0.47829	0.550900486598	0.51946	0.761237084866	0.76113	T	0.089572	0.38400	T	-0.146774	0.28819	T	-0.267079	0.48116	T	0.201812628388945	0.20515	T	0.851815	0.53646	D	0.093423	0.21942	0.12641914	0.30446	0.093423	0.21942	0.12641914	0.30445	-3.892	0.22182	T	.	.	0.504	0.65145	A	.;.	.;.	4.526931	0.71028	25.6	0.99875980712678125	0.95328	0.51496	0.28909	D	AEFBCI	0.099930	0.20106	N	0.241238919638776	0.53208	3.490698	0.249570930169503	0.52625	3.436114	0.317108952508057	0.19346	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.8	3.86	0.43689	2.134000	0.41725	8.175000	0.76766	0.672000	0.70159	0.974000	0.34632	1.000000	0.68203	0.271000	0.23793	0.122:0.0:0.7028:0.1752	6.822	0.23048	75	0.96833	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2283.43	49	chr3	52488109	.	G	A	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=615;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.914;SOR=0.754	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1256	9	0	1	0
chr3	52529325	52529325	G	A	exonic	NT5DC2	.	nonsynonymous SNV	NT5DC2:NM_001134231:exon2:c.C242T:p.P81L,NT5DC2:NM_022908:exon2:c.C131T:p.P44L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0466695617476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.615	0.39791	P	0.356	0.43023	B	0.000000	0.84330	D	0.050537	1	0.81001	D	0	0.06538	N	1.86	0.30669	T	-3.43	0.74348	D	0.744	0.75192	-0.9573	0.39681	T	0.082	0.32178	T	10	0.7123381	0.73125	D	0.04667	0.62564	D	0.361	0.68141	0.57	0.69299	0.558774299873	0.55538	0.6740307043941967	0.67341	0.989763298136	0.74026	0.931964635849	0.99095	D	0.158751	0.50190	T	0.0538762	0.58840	T	-0.160387	0.58318	T	0.949266791343689	0.63076	D	0.933407	0.75038	D	0.41666168	0.61869	0.38913304	0.63740	0.41666168	0.61869	0.38913304	0.63740	-6.786	0.72060	T	.	.	0.227	0.68044	B	.;.;.	.;.;.	5.341971	0.89632	31	0.99737873430990776	0.83264	0.99290	0.94024	D	AEFDGBCI	0.976484	0.99675	D	0.487267643133503	0.66346	4.938215	0.596971036206043	0.74722	6.185603	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.38	5.38	0.77279	9.602000	0.97623	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.126	0.93367	97	0.95994	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1059.43	40	chr3	52529325	.	G	A	1059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.334;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.489;SOR=0.603	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1382	9	0	1	0
chr3	52691610	52691610	G	A	exonic	GNL3	.	nonsynonymous SNV	GNL3:NM_014366:exon9:c.G850A:p.V284I,GNL3:NM_206825:exon9:c.G814A:p.V272I,GNL3:NM_206826:exon9:c.G814A:p.V272I	.	431	1090	1	0	0	1	0.000458505	.	.	.	3678268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0042282363651	.	0.000199681	6.594e-05	0	8.646e-05	0	0	2.999e-05	0	0.0003	6.47e-05	10	154602	rs199735905	4.279e-05	5.133e-05	3.36e-05	5.2e-05	0.0005	3.394e-05	3.077e-05	0.0002	0.0002	0	0.0002	0	0	0	0.0005	2.038e-05	8.458e-05	0.0003	1.972e-05	1.97e-05	1.286e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.301e-05	3.033e-05	0	0	6.541e-05	0	0	0	0	0	0	0.0004	0.931	0.06802	T	0.214	0.26386	T	0.001	0.07471	B	0.008	0.13708	B	0.173187	0.17315	N	0.628717	1	0.08975	N	0.21	0.09513	N	2.56	0.13673	T	-0.61	0.18042	N	0.091	0.06990	-0.9773	0.35616	T	0.014	0.05705	T	10	0.0213072	0.00507	T	0.004228	0.10216	T	0.019	0.03383	0.451	0.51285	0.245101548738	0.24120	0.1887566774713285	0.18793	0.0847085784897	0.09572	0.282208025455	0.07802	T	0.060734	0.31465	T	-0.569086	0.00224	T	-0.744711	0.03695	T	0.0158301405608654	0.00371	T	0.671933	0.28305	T	0.032765698	0.03365	0.026064366	0.00677	0.032765698	0.03365	0.026064366	0.00676	-4.534	0.31330	T	.	.	0.066	0.03552	B	.;.	.;.	0.563537	0.09319	6.102	0.59309211200341505	0.06194	0.25502	0.22718	N	AEFDBCI	0.156349	0.28169	N	-1.05571334959074	0.07476	0.3474111	-0.98757380466231	0.10064	0.5045377	0.999585632518166	0.40607	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.81	-1.92	0.07203	0.372000	0.20199	0.379000	0.17760	-0.113000	0.14837	0.000000	0.06391	0.008000	0.19753	0.935000	0.47363	0.3413:0.1508:0.4215:0.0864	3.493	0.07206	28	0.98252	GTP binding domain|Circularly permuted (CP)-type guanine nucleotide-binding (G) domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1115.43	33	chr3	52691610	.	G	A	1115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.398;DP=412;ExcessHet=0;FS=3.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.516;SOR=0.864	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1284	9	0	1	0
chr3	52711865	52711865	C	T	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon15:c.G2171A:p.R724H,NEK4:NM_001348412:exon15:c.G2300A:p.R767H,NEK4:NM_001348414:exon16:c.G2192A:p.R731H,NEK4:NM_003157:exon16:c.G2438A:p.R813H	.	435	1083	4	0	0	4	0.00184332	.	.	.	2348147	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.090	0.0139815353854	.	0.000199681	0.0005	9.737e-05	0.0007	0	0	0.0005	0.0011	0.0007	0.000401	62	154602	rs182485847	0.0004	0.0004	0.0003	0.0004	0.0016	0.0004	0.0003	0.0008	0.0006	3.057e-05	0.0007	0.0019	0	0	0.0016	0.0003	0.0006	0.0008	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0005	0.0004	2.407e-05	0	0.0008	0.0032	0	0	0	0.0004	0.0019	0.0010	0.345	0.12511	T	0.287	0.22223	T	0.005	0.12996	B	0.0	0.01387	B	0.913531	0.08536	N	0.961149	0.999998	0.08975	N	0.44	0.12706	N	-0.65	0.73100	T	-0.34	0.12661	N	0.047	0.12198	-1.0027	0.29139	T	0.174	0.51785	T	10	0.010242075	0.00229	T	0.013982	0.33782	T	0.090	0.26093	.	.	0.440915056915	0.43709	0.05958447060273862	0.05898	0.178398932634	0.20072	0.229261159897	0.01914	T	0.015997	0.13307	T	-0.467292	0.00884	T	-0.501784	0.22164	T	0.0170956823099555	0.00455	T	0.668433	0.27736	T	0.015594748	0.00147	0.026060842	0.00677	0.015594748	0.00147	0.026060842	0.00676	-3.594	0.21074	T	.	.	0.086	0.20857	B	.;.	.;.	0.047207	0.04616	1.283	0.87059647025905962	0.16960	0.17105	0.19691	N	AEFGBI	0.037998	0.05312	N	-1.10993540913515	0.06466	0.2977134	-1.02373705135555	0.09264	0.4599144	0.996762205939557	0.34990	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.43	-0.657	0.10858	0.069000	0.14419	-4.947000	0.01915	-0.892000	0.02379	0.789000	0.29582	0.000000	0.08366	0.653000	0.32775	0.0:0.4859:0.0:0.5141	11.897	0.51942	28	0.98252	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	484.43	34	chr3	52711865	.	C	T	484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.713;DP=358;ExcessHet=0;FS=6.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.781;SOR=0.18	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	9	0	1	0
chr3	52741459	52741459	C	G	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon12:c.G1778C:p.S593T,NEK4:NM_001348412:exon12:c.G1907C:p.S636T,NEK4:NM_001348413:exon12:c.G1907C:p.S636T,NEK4:NM_001348414:exon13:c.G1799C:p.S600T,NEK4:NM_003157:exon13:c.G2045C:p.S682T	.	431	1090	1	0	0	1	0.000458505	.	.	.	2378839	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.129	0.0185633698161	.	.	4.944e-05	0	0	0	0	5.997e-05	0	0.0001	3.88e-05	6	154602	rs767467595	7.541e-06	7.525e-06	6.823e-06	8.266e-06	5.802e-05	4.05e-06	2.96e-06	2.195e-05	1.431e-05	0	0	0	0	0	0	5.409e-06	0	5.802e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.246	0.23984	T	0.991	0.68779	D	0.787	0.64351	P	0.000077	0.52346	D	0.083982	0.925699	0.41768	D	2.78	0.81115	M	2.21	0.77206	T	-1.59	0.39692	N	0.348	0.44090	0.164	0.85288	D	0.543	0.83185	D	10	0.22868478	0.39779	T	0.018563	0.40664	T	0.129	0.35316	0.122	0.02867	0.840521150002	0.83899	0.27568859097061366	0.27481	0.558507525721	0.52429	0.488857328892	0.37280	T	0.016125	0.17282	T	-0.0960557	0.37078	T	-0.172154	0.57245	T	0.456984523183583	0.31055	T	0.819918	0.54093	T	0.24532142	0.47490	0.22450751	0.47365	0.24532142	0.47490	0.22450751	0.47364	-4.53	0.31279	T	.	.	0.138	0.46156	B	.;.;.;.	.;.;.;.	4.134473	0.61898	24.4	0.99569316840883482	0.72318	0.95930	0.66770	D	AEFBI	0.354701	0.44669	N	0.66926158181364	0.77620	6.709892	0.662706134394025	0.79559	7.108297	0.0178199491041204	0.12992	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.23	5.23	0.72570	4.148000	0.57856	2.791000	0.34796	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.91:0.0:0.09	9.977	0.40964	28	0.98252	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	90	chr3	52741459	.	C	G	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.779;DP=417;ExcessHet=0;FS=2.773;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=1.04;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1045	9	0	1	0
chr3	52752149	52752149	T	A	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon6:c.A884T:p.Q295L,NEK4:NM_001348412:exon7:c.A1151T:p.Q384L,NEK4:NM_001348413:exon7:c.A1151T:p.Q384L,NEK4:NM_001348414:exon7:c.A905T:p.Q302L,NEK4:NM_003157:exon7:c.A1151T:p.Q384L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0505536125141	7.7e-05	0.000199681	0.0005	0	0	0.0010	0.0023	0.0004	0.0044	0.0002	0.0003946	61	154602	rs201270296	0.0003	0.0003	0.0003	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0	0	0	0.0013	0.0040	0.0003	0.0002	0.0003	6.956e-05	0.0004	0.0004	0.0003	0.0005	0.0010	0.0003	0.0003	0.0004	0.0002	2.406e-05	0	0.0001	0	0.0010	0.0030	0.0034	0.0002	0.0005	0	0.002	0.72154	D	0.067	0.44302	T	0.215	0.38028	B	0.075	0.37221	B	0.353475	0.13780	N	0.682031	1	0.08975	N	2.535	0.73915	M	-0.66	0.73311	T	-3.65	0.69950	D	0.286	0.40765	-0.7950	0.55438	T	0.273	0.64474	T	10	0.0057556033	0.00128	T	0.050554	0.64291	D	0.156	0.40720	.	.	0.635663843862	0.63267	0.33334462099124845	0.33247	0.171022968336	0.19268	0.201875984669	0.00513	T	0.131517	0.46106	T	-0.269335	0.11832	T	-0.233771	0.51406	T	0.0895900686946352	0.11169	T	0.60194	0.22516	T	0.1914202	0.40768	0.13865988	0.33107	0.1914202	0.40768	0.13865988	0.33106	-2.732	0.07919	T	.	.	0.089	0.29533	B	.;.;.;.	.;.;.;.	0.383760	0.07557	4.208	0.91673819958225355	0.20964	0.08749	0.14632	N	AEFGBHCI	0.061214	0.11688	N	-0.792145819714951	0.13513	0.6662639	-0.872811053043539	0.12739	0.6570998	0.999993527969851	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.88	2.48	0.29194	0.796000	0.26646	-0.321000	0.09964	-0.163000	0.11536	0.018000	0.19461	0.000000	0.08366	0.006000	0.07323	0.0:0.1793:0.1658:0.6549	4.503	0.11281	30	0.98208	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	5268.14	34	chr3	52752149	.	T	A	5268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.224;DP=742;ExcessHet=0.2348;FS=0.522;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.23;SOR=0.621	GT:AD:DP:GQ:PL	0/1:114,97:211:99:2270,0,2870	8	0	2	0
chr3	53735481	53735481	G	A	exonic	CACNA1D	.	nonsynonymous SNV	CACNA1D:NM_001128839:exon20:c.G2729A:p.R910H,CACNA1D:NM_001128840:exon20:c.G2729A:p.R910H,CACNA1D:NM_000720:exon21:c.G2789A:p.R930H	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	496779	CACNA1D-related_disorder|not_specified|not_provided|Inborn_genetic_diseases	.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.731	0.36479736466	0.0004	0.000399361	0.0005	0.0003	0.0003	0	0	0.0005	0.0011	0.0012	0.0004786	74	154602	rs115066564	0.0008	0.0008	0.0008	0.0008	0.0016	0.0007	0.0007	0.0013	0.0013	0.0001	0.0003	3.827e-05	2.519e-05	0	0.0005	0.0008	0.0005	0.0016	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	0.0001	0	0.0005	0	0.0002	0	0.0034	0.0006	0	0.0014	0.031	0.45039	D	0.124	0.35710	T	0.654	0.90584	P	0.048	0.75793	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	-4.38	0.97369	D	-3.6	0.69835	D	0.811	0.80669	1.054	0.98215	D	0.936	0.97910	D	10	0.20425305	0.36610	T	0.364797	0.92601	D	0.731	0.90589	.	.	0.941497090491	0.94088	0.7582315601097529	0.75771	2.10380895774	0.94866	0.729966163635	0.71501	T	0.777219	0.94086	D	0.137395	0.68076	D	0.384049	0.91574	D	0.0920287665636736	0.11456	T	0.965703	0.87317	D	0.32462347	0.55027	0.26156145	0.51935	0.35939956	0.57790	0.28132275	0.54112	-10.609	0.79162	D	0.17243724217418627	0.21793	0.340	0.56619	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.963549	0.82083	27.7	0.99950986138674369	0.99944	0.98939	0.88905	D	AEFBI	0.934939	0.92904	D	0.682723460901006	0.78502	6.884303	0.731960847184646	0.84804	8.395616	0.999999999998229	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	10.003000	0.99689	10.018000	0.83123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.682	0.95964	661	0.61838	Ion transport domain;Ion transport domain;Ion transport domain;.;.;.;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2700.43	39	chr3	53735481	.	G	A	2700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.454;DP=584;ExcessHet=0;FS=2.253;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.574;SOR=0.559	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr3	53823399	53823399	C	T	exonic	CHDH	.	nonsynonymous SNV	CHDH:NM_018397:exon3:c.G610A:p.E204K	.	418	1101	3	0	0	3	0.00136054	.	.	.	3422620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0282215477471	.	.	7.86e-05	0	0	0	0	0.0001	0	0	3.88e-05	6	154602	rs771398046	4.615e-05	4.652e-05	4.927e-05	4.299e-05	0.0012	3.687e-05	3.37e-05	0.0006	0.0004	0	2.284e-05	0	0	0	0.0012	4.426e-05	8.351e-05	5.918e-05	4.599e-05	4.596e-05	5.137e-05	4.035e-05	0.0002	2.109e-05	1.527e-05	3.762e-05	2.575e-05	0	0	0	0	0	0	0	8.82e-05	0	0.0002	0.257	0.16738	T	0.332	0.18449	T	0.025	0.19245	B	0.026	0.20792	B	0.000670	0.42516	D	0.235426	0.504587	0.31697	N	0.89	0.21648	L	1.03	0.40469	T	-1.55	0.37566	N	0.412	0.45237	-1.0284	0.20973	T	0.073	0.29643	T	10	0.28027266	0.45602	T	0.028222	0.50927	D	0.039	0.10176	0.548	0.66296	0.352262096564	0.34836	0.43977306932644467	0.43894	0.319636368641	0.34164	0.383739769459	0.22785	T	0.297936	0.67052	T	-0.331209	0.06020	T	-0.508985	0.21419	T	0.0539687900392593	0.06184	T	0.963204	0.86318	D	0.085471906	0.19827	0.117803656	0.28437	0.085471906	0.19827	0.117803656	0.28436	-6.147	0.47493	T	.	.	0.097	0.15609	B	.	.	1.758155	0.22363	15.59	0.99066053396432485	0.51598	0.92342	0.55490	D	AEFBI	0.290377	0.40178	N	-0.697439238002267	0.16093	0.8169769	-0.619285458480832	0.18998	1.017379	0.999631952173446	0.41205	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	5.72	-0.019	0.13286	2.453000	0.44627	0.955000	0.22950	-0.222000	0.07959	1.000000	0.71638	0.998000	0.33993	0.068000	0.16518	0.1083:0.3121:0.5158:0.0637	8.663	0.33263	576	0.70006	Glucose-methanol-choline oxidoreductase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1173.43	33	chr3	53823399	.	C	T	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.98;DP=433;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=-0.438;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,978	9	0	1	0
chr3	53855341	53855341	G	A	exonic	IL17RB	.	nonsynonymous SNV	IL17RB:NM_018725:exon6:c.G529A:p.G177R	.	423	1082	16	1	0	18	0.00824931	1.0000	0.934	.	3409327	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.197	.	0.0051	0.00379393	0.0045	0.0013	0.0013	0.0001	0.0020	0.0055	0.0037	0.0079	0.0042561	658	154602	rs2232337	0.0061	0.0062	0.0059	0.0062	0.0077	0.0060	0.0059	0.0072	0.0070	0.0009	0.0026	0.0013	0.0001	0.0022	0.0070	0.0068	0.0059	0.0077	0.0047	0.0047	0.0049	0.0045	0.0083	0.0044	0.0043	0.0067	0.0065	0.0012	0.0241	0.0048	0.0009	0.0004	0.0022	0.0068	0.0073	0.0033	0.0083	0.003	0.68238	D	0.042	0.50226	D	1.0	0.90584	D	0.976	0.73562	D	0.030850	0.25250	N	0.370902	0.998	0.43943	D	2.79	0.81396	M	1.97	0.22067	T	-6.02	0.89684	D	0.547	0.57348	-1.0299	0.20487	T	0.105	0.38390	T	10	0.009253383	0.00209	T	0.008529	0.22557	T	0.197	0.47942	0.249	0.18602	0.32580497728	0.32196	0.6666667538832183	0.66604	0.438844640856	0.43915	0.470101684332	0.34693	T	0.29966	0.67218	T	-0.375446	0.03327	T	-0.307513	0.43926	T	0.0302302730637096	0.02025	T	0.839916	0.51465	T	0.87959445	0.89633	0.7995634	0.88242	0.87959445	0.89634	0.7995634	0.88243	-9.562	0.71244	D	.	.	0.927	0.84729	P	.	.	6.482312	0.95283	34	0.99931107679262343	0.99387	0.97669	0.76290	D	AEFDBI	0.708104	0.66262	D	0.706036327656051	0.80028	7.204421	0.679326305298717	0.80814	7.382819	0.999999999768077	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	6.04	6.04	0.98025	4.954000	0.63335	11.419000	0.92710	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.671000	0.33280	0.0:0.0:1.0:0.0	16.095	0.80923	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006579	0.010101	0.009537	0.008772	0.000000	0.008621	0.003106	0.003817	0.05	468.43	41	chr3	53855341	.	G	A	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.853;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.691;SOR=0.685	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr3	53876082	53876082	-	GG	splicing	ACTR8	NM_022899:exon7:c.779-2->CC	.	.	.	440	839	208	22	13	265	0.13057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.00119808	0.0059	0.0165	0.0021	0.0132	0.0013	0.0045	0.0023	0.0062	0.0003842	10	26028	rs370490982	0.0026	0.0080	0.0026	0.0026	0.0129	0.0025	0.0025	0.0118	0.0114	0.0129	0.0022	0.0001	0.0035	0.0017	0.0011	0.0024	0.0025	0.0029	0.0053	0.0053	0.0053	0.0052	0.0128	0.0050	0.0048	0.0119	0.0115	0.0128	0	0.0067	0.0003	0.0048	0.0004	0	0.0019	0.0044	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1633.09	33	chr3	53876082	.	T	TGG	1633.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.67;DP=585;ExcessHet=0.2348;FS=3.769;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.983;SOR=0.997	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	9	0	1	0
chr3	54642237	54642237	G	A	exonic	CACNA2D3	.	nonsynonymous SNV	CACNA2D3:NM_018398:exon11:c.G1163A:p.R388Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0291211813459	.	.	1.09e-05	0	0	0	0	1.931e-05	0	0	1.29e-05	2	154602	rs754529060	7.591e-06	9.577e-06	9.614e-06	5.548e-06	0.0002	4.07e-06	2.98e-06	3.84e-06	2.78e-06	0	0	0	2.53e-05	0	0.0002	8.161e-06	0	0	1.314e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.239	0.19225	T	0.142	0.33330	T	0.999	0.77913	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.990397	0.41150	D	1.365	0.34158	L	2.66	0.12575	T	-2.1	0.49187	N	0.795	0.79118	-1.1319	0.01693	T	0.098	0.36728	T	10	0.5598257	0.64724	D	0.029121	0.51684	D	0.231	0.53208	.	.	0.451585352066	0.44779	0.8433265553219774	0.84293	0.985741317093	0.73899	0.731552958488	0.71733	T	0.165328	0.51113	T	0.0191875	0.54272	T	-0.210215	0.53675	T	0.963774979114532	0.66758	D	0.972603	0.90144	D	0.53326154	0.69016	0.46637398	0.69037	0.53326154	0.69017	0.46637398	0.69038	-7.237	0.66538	T	.	.	0.105	0.21011	B	.;.;.;.;.	.;.;.;.;.	5.833790	0.93750	33	0.99957097854052313	0.99981	0.98444	0.82841	D	AEFDBI	0.889540	0.82372	D	0.800489757183521	0.86136	8.789685	0.810714353078477	0.90530	10.44874	1.0	0.98316	0.538715	0.22204	0	0.573888	0.26702	0	0.78367	0.99111	0	0.564101	0.26826	0	.	.	5.92	5.92	0.95557	8.187000	0.89659	11.788000	0.96293	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	18.512	0.90872	899	0.25060	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1561.43	100	chr3	54642237	.	G	A	1561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=407;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=0.552;SOR=0.547	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	9	0	1	0
chr3	56729274	56729274	A	G	exonic	ARHGEF3	.	nonsynonymous SNV	ARHGEF3:NM_001128616:exon10:c.T1595C:p.V532A,ARHGEF3:NM_019555:exon10:c.T1577C:p.V526A,ARHGEF3:NM_001289698:exon11:c.T1595C:p.V532A,ARHGEF3:NM_001377411:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001377412:exon12:c.T1580C:p.V527A,ARHGEF3:NM_001128615:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377407:exon13:c.T1673C:p.V558A,ARHGEF3:NM_001377410:exon13:c.T1613C:p.V538A,ARHGEF3:NM_001377409:exon14:c.T1613C:p.V538A,ARHGEF3:NM_001377408:exon15:c.T1613C:p.V538A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0148333833362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.38e-06	1.169e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.65419	D	0.013	0.63918	D	0.0	0.07471	B	0.001	0.10090	B	0.001347	0.39310	N	0.111526	0.875162	0.35639	D	0.895	0.22405	L	1.73	0.29342	T	-0.77	0.21429	N	0.352	0.49146	-1.0694	0.09545	T	0.070	0.28577	T	10	0.13107926	0.24947	T	0.014833	0.35199	T	0.059	0.16972	0.216	0.13643	0.236619781664	0.23270	0.2788461101496022	0.27797	0.145477071591	0.16437	0.677927732468	0.63971	T	0.03586	0.23881	T	-0.189182	0.22377	T	-0.509523	0.21363	T	0.590241134166718	0.36016	D	0.860114	0.55285	D	0.073734075	0.16497	0.08979573	0.21019	0.073734075	0.16497	0.08979573	0.21018	-7.239	0.56693	T	.	.	0.097	0.32202	B	.;.;.;.;.	.;.;.;.;.	2.597349	0.33703	19.42	0.98271513732365534	0.39768	0.94514	0.61411	D	AEFGBI	0.381394	0.46367	N	-0.112173054150492	0.36863	2.136539	0.051074141658476	0.42125	2.542452	0.999586113387944	0.40607	0.706548	0.73137	0	0.724815	0.89359	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	3.395000	0.52301	8.032000	0.76277	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	16.398	0.83459	384	0.83545	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1415.43	43	chr3	56729274	.	A	G	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.54;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=-1.091;SOR=0.684	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	9	0	1	0
chr3	57557400	57557400	G	A	exonic	PDE12	.	nonsynonymous SNV	PDE12:NM_001322176:exon1:c.G1021A:p.G341S,PDE12:NM_001322177:exon1:c.G1021A:p.G341S,PDE12:NM_177966:exon1:c.G1021A:p.G341S	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	.	0.0002	0.00878594	0.0041	0.0002	0.0007	0	0	5.996e-05	0.0055	0.0286	0.0035899	555	154602	rs202007984	0.0019	0.0019	0.0010	0.0028	0.0303	0.0018	0.0018	0.0293	0.0289	5.974e-05	0.0002	0.0008	7.557e-05	0	0.0016	1.439e-05	0.0016	0.0303	0.0014	0.0014	0.0007	0.0021	0.0413	0.0012	0.0012	0.0366	0.0348	2.409e-05	0	0.0003	0.0009	0	0	0	1.47e-05	0.0009	0.0413	0.0	0.91255	D	0.018	0.92824	D	0.997	0.70673	D	0.892	0.66722	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.36	0.34107	L	-1.18	0.78314	T	-5.9	0.88839	D	0.813	0.80866	0.068	0.83577	D	0.564	0.84179	D	10	0.010037243	0.00225	T	.	.	.	0.603	0.84345	.	.	0.889734786325	0.88865	0.7581215157733566	0.75760	.	.	0.667153358459	0.62432	T	0.495882	0.81841	T	-0.16251	0.26374	T	0.0154188	0.71333	D	0.097231623483076	0.12049	T	0.914909	0.70203	D	0.9252455	0.93763	0.86099815	0.92247	0.9252455	0.93763	0.86099815	0.92248	-9.029	0.67884	D	.	.	0.462	0.71978	A	.;.	.;.	4.777826	0.77414	26.7	0.99868084763331821	0.94637	0.95560	0.65208	D	ALL	0.937278	0.93483	D	0.77956842798287	0.84812	8.393525	0.786675839753086	0.88852	9.740399	1.0	0.98316	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	5.42	5.42	0.78666	9.510000	0.97004	11.824000	0.97325	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	19.213	0.93753	201	0.92177	Endonuclease/exonuclease/phosphatase;Endonuclease/exonuclease/phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.026515	0.05	3951.43	41	chr3	57557400	.	G	A	3951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=638;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.313;SOR=0.817	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1226	9	0	1	0
chr3	58112167	58112167	C	T	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164317:exon18:c.C2594T:p.P865L,FLNB:NM_001164318:exon18:c.C2594T:p.P865L,FLNB:NM_001164319:exon18:c.C2594T:p.P865L,FLNB:NM_001457:exon18:c.C2594T:p.P865L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1549250	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.797	0.241329232845	.	.	8.311e-05	0	0	0	0	0.0001	0	6.171e-05	6.47e-05	10	154602	rs760914568	2.531e-05	2.531e-05	2.586e-05	2.475e-05	0.0003	1.868e-05	1.631e-05	6.101e-05	2.525e-05	5.974e-05	2.236e-05	0	0	0	0.0003	2.248e-05	6.623e-05	3.479e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.019	0.50132	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.87	0.83286	M	-2.01	0.85468	D	-7.69	0.95603	D	0.84	0.94668	0.723	0.93454	D	0.798	0.93177	D	10	0.84917814	0.84091	D	0.241329	0.88712	D	0.797	0.93346	0.577	0.70217	0.984899833571	0.98473	0.6246814449880361	0.62401	0.911871178692	0.71093	0.793644368649	0.80997	T	0.778177	0.94120	D	0.29913	0.82898	D	0.383586	0.91556	D	0.978811681270599	0.72514	D	0.968203	0.88468	D	0.4831042	0.66088	0.4287025	0.66576	0.4831042	0.66089	0.4287025	0.66576	-7.879	0.60242	D	0.3802825179718605	0.47479	0.345	0.56218	A	.;.;.;.;.	.;.;.;.;.	5.282063	0.88686	29.7	0.99866685547330025	0.94457	0.96272	0.68332	D	AEFDBHCI	0.921714	0.89561	D	0.891986736621523	0.91363	10.84515	0.835267392564483	0.92126	11.25078	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	7.903000	0.86133	7.684000	0.65448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	18.942	0.92582	422	0.81333	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1316.43	110	chr3	58112167	.	C	T	1316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=421;ExcessHet=0;FS=3.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.145;SOR=1.136	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1228	9	0	1	0
chr3	58163173	58163173	C	A	exonic	FLNB	.	nonsynonymous SNV	FLNB:NM_001164319:exon42:c.C6969A:p.F2323L,FLNB:NM_001164318:exon43:c.C7008A:p.F2336L,FLNB:NM_001457:exon43:c.C7041A:p.F2347L,FLNB:NM_001164317:exon44:c.C7134A:p.F2378L	Atelosteogenesis, type I, Autosomal dominant;Atelosteogenesis, type III, Autosomal dominant;Boomerang dysplasia, Autosomal dominant;Larsen syndrome, Autosomal dominant;Spondylocarpotarsal synostosis syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	291363	FLNB-Related_Spectrum_Disorders|not_provided	MedGen:CN239400|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.819	0.619735841105	0.0004	0.000399361	0.0006	0	0.0005	0.0001	0.0002	0.0008	0	0.0007	0.0005563	86	154602	rs139325959	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	2.987e-05	0.0005	0	0	0.0002	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0005	0.0005	4.81e-05	0	0.0003	0	0	0	0	0.0007	0.0009	0.0008	0.009	0.72154	D	0.002	0.79402	D	0.343	0.35524	B	0.457	0.46994	P	0.000000	0.84330	D	0.085942	0.999964	0.81001	D	4	0.96753	H	-2.92	0.91748	D	-5.23	0.83899	D	0.795	0.86191	0.836	0.94850	D	0.867	0.95570	D	10	0.544053	0.63882	D	0.619736	0.96704	D	0.819	0.94200	0.878	0.96734	0.907146702657	0.90621	0.7181845656283848	0.71761	0.664439988566	0.59081	0.812714219093	0.83908	D	0.91636	0.98466	D	0.149337	0.69205	D	0.345485	0.90137	D	0.312008829859245	0.25497	T	0.995	0.98241	D	0.6150099	0.73497	0.505847	0.71439	0.6150099	0.73498	0.505847	0.71439	-13.405	0.90962	D	.	.	0.996	0.96223	P	.;.;.;.;.	.;.;.;.;.	3.947488	0.57808	23.9	0.99032708541698877	0.50830	0.93401	0.58119	D	AEFGBHCIJ	0.726830	0.67537	D	-0.0160203433218901	0.41130	2.454767	-0.0619533859048216	0.36978	2.158986	0.999965420133808	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.39	2.62	0.30337	2.229000	0.42634	2.215000	0.31401	-0.773000	0.03420	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.6498:0.0:0.3502	9.118	0.35930	617	0.66297	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1693.43	33	chr3	58163173	.	C	A	1693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.822;DP=444;ExcessHet=0;FS=7.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.717;SOR=1.326	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	9	0	1	0
chr3	58293743	58293743	A	G	exonic	ABHD6	.	nonsynonymous SNV	ABHD6:NM_020676:exon9:c.A992G:p.D331G,ABHD6:NM_001320126:exon10:c.A992G:p.D331G	.	.	.	.	.	.	.	.	.	.	.	2366650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.00755447774729	0.0004	0.000199681	0.0002	0	0	0	0	0.0002	0	0.0005	0.0002005	31	154602	rs146742146	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0002	0.0001	0	0	0	0	1.873e-05	0.0005	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	8.161e-05	6.718e-05	0.0002	0.0001	0	0	0	0	0	9.411e-05	0	0.0003	0	0	0.293	0.14843	T	0.376	0.16182	T	0.001	0.07471	B	0.0	0.01387	B	0.003165	0.35330	N	0.362771	0.848432	0.28531	N	-0.55	0.02420	N	-1.45	0.80899	T	-0.33	0.12472	N	0.059	0.03069	-0.9289	0.44299	T	0.158	0.49161	T	10	0.038886696	0.02338	T	0.007554	0.20033	T	0.185	0.45933	.	.	0.646386484032	0.64345	0.37234343318444185	0.37148	0.262192732783	0.28783	0.28920006752	0.08805	T	0.097406	0.40019	T	-0.354843	0.04430	T	-0.425517	0.30446	T	0.0521305851949021	0.05870	T	0.616038	0.23564	T	0.07456828	0.16742	0.05922786	0.11079	0.07456828	0.16742	0.05922786	0.11079	-4.11	0.25438	T	.	.	0.063	0.01534	B	.;.	.;.	2.168090	0.27628	17.53	0.9719096340522041	0.32767	0.70549	0.34636	D	AEFBI	0.384760	0.46576	N	-0.575110910309984	0.19703	1.033249	-0.346770365822234	0.26610	1.470892	0.00626336467491408	0.11171	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.32	2.79	0.31792	0.970000	0.28980	4.721000	0.44505	0.752000	0.88150	0.544000	0.27298	1.000000	0.68203	0.997000	0.79791	0.7648:0.1501:0.0851:0.0	6.787	0.22860	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1092.43	79	chr3	58293743	.	A	G	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.49;DP=395;ExcessHet=0;FS=1.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-2.904;SOR=1.04	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	9	0	1	0
chr3	58410115	58410115	A	T	exonic	PXK	.	nonsynonymous SNV	PXK:NM_001289101:exon13:c.A1010T:p.N337I,PXK:NM_001349525:exon13:c.A1010T:p.N337I,PXK:NM_001349526:exon13:c.A1010T:p.N337I,PXK:NM_001349532:exon13:c.A1010T:p.N337I,PXK:NM_001349533:exon13:c.A1010T:p.N337I,PXK:NM_001349534:exon13:c.A1010T:p.N337I,PXK:NM_001349535:exon13:c.A1010T:p.N337I,PXK:NM_001349536:exon13:c.A1010T:p.N337I,PXK:NM_001349537:exon13:c.A1010T:p.N337I,PXK:NM_001349538:exon13:c.A1010T:p.N337I,PXK:NM_001349539:exon13:c.A1010T:p.N337I,PXK:NM_001349540:exon13:c.A1010T:p.N337I,PXK:NM_001289096:exon14:c.A1322T:p.N441I,PXK:NM_001289100:exon14:c.A1322T:p.N441I,PXK:NM_001349490:exon14:c.A1322T:p.N441I,PXK:NM_001349500:exon14:c.A1322T:p.N441I,PXK:NM_001349522:exon14:c.A1322T:p.N441I,PXK:NM_001349524:exon14:c.A1322T:p.N441I,PXK:NM_001289095:exon15:c.A1370T:p.N457I,PXK:NM_001349491:exon15:c.A1010T:p.N337I,PXK:NM_001349494:exon15:c.A1373T:p.N458I,PXK:NM_001349495:exon15:c.A1373T:p.N458I,PXK:NM_001349496:exon15:c.A1370T:p.N457I,PXK:NM_001349497:exon15:c.A1370T:p.N457I,PXK:NM_001349501:exon15:c.A1373T:p.N458I,PXK:NM_001349502:exon15:c.A1370T:p.N457I,PXK:NM_001349510:exon15:c.A1373T:p.N458I,PXK:NM_001349511:exon15:c.A1373T:p.N458I,PXK:NM_001349512:exon15:c.A1373T:p.N458I,PXK:NM_001349514:exon15:c.A1370T:p.N457I,PXK:NM_001349515:exon15:c.A1370T:p.N457I,PXK:NM_001349516:exon15:c.A1373T:p.N458I,PXK:NM_001349517:exon15:c.A1370T:p.N457I,PXK:NM_001349518:exon15:c.A1370T:p.N457I,PXK:NM_001289098:exon16:c.A1421T:p.N474I,PXK:NM_001289099:exon16:c.A1172T:p.N391I,PXK:NM_001349488:exon16:c.A1421T:p.N474I,PXK:NM_001349492:exon16:c.A1421T:p.N474I,PXK:NM_001349493:exon16:c.A1421T:p.N474I,PXK:NM_001349498:exon16:c.A1361T:p.N454I,PXK:NM_001349499:exon16:c.A1421T:p.N474I,PXK:NM_001349503:exon16:c.A1421T:p.N474I,PXK:NM_001349504:exon16:c.A1421T:p.N474I,PXK:NM_001349506:exon16:c.A1421T:p.N474I,PXK:NM_001349507:exon16:c.A1421T:p.N474I,PXK:NM_001349508:exon16:c.A1421T:p.N474I,PXK:NM_001349509:exon16:c.A1421T:p.N474I,PXK:NM_001349519:exon16:c.A1421T:p.N474I,PXK:NM_001349520:exon16:c.A1421T:p.N474I,PXK:NM_001349527:exon16:c.A1421T:p.N474I,PXK:NM_017771:exon16:c.A1421T:p.N474I,PXK:NM_001349489:exon17:c.A1172T:p.N391I,PXK:NM_001349513:exon17:c.A1172T:p.N391I,PXK:NM_001349521:exon17:c.A1172T:p.N391I,PXK:NM_001349528:exon17:c.A1172T:p.N391I,PXK:NM_001349529:exon17:c.A1172T:p.N391I,PXK:NM_001349530:exon17:c.A1172T:p.N391I,PXK:NM_001349531:exon17:c.A1172T:p.N391I	.	425	1006	84	7	0	98	0.0464455	.	.	.	698265	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0061	0.00938498	0.0100	0.0005	0.0051	0.0001	0.0005	0.0071	0.0166	0.0396	0.0090361	1397	154602	rs140203295	0.0070	0.0071	0.0058	0.0083	0.0404	0.0069	0.0069	0.0393	0.0388	0.0008	0.0048	0.0152	0.0001	0.0014	0.0397	0.0048	0.0090	0.0404	0.0052	0.0052	0.0049	0.0054	0.0402	0.0049	0.0048	0.0356	0.0338	0.0005	0	0.0062	0.0193	0.0004	0.0011	0.0408	0.0055	0.0061	0.0402	0.189	0.41915	T	0.329	0.48336	T	0.003	0.35474	B	0.002	0.41396	B	0.090595	0.20368	N	0.575787	0.980644	0.25097	N	0.805	0.20218	L	2.97	0.50976	T	-1.47	0.97995	N	0.393	0.47115	-1.1302	0.01772	T	0.037	0.15943	T	10	0.0034009814	0.00059	T	.	.	.	0.101	0.28911	.	.	0.525991642533	0.52246	0.22060369571048527	0.21975	0.33564811506	0.35560	0.551083683968	0.46010	T	0.002897	0.40318	T	-0.432092	0.01440	T	-0.36417	0.37570	T	0.0238539316806345	0.01126	T	0.865113	0.57764	D	0.083946615	0.19406	0.05076319	0.08032	0.083946615	0.19406	0.05076319	0.08031	-3.109	0.11399	T	.	.	0.091	0.38906	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.187903	0.43297	21.7	0.9717033229360339	0.32673	0.91707	0.54093	D	AEFBI	0.308053	0.41475	N	-0.17860360165214	0.34027	1.937292	0.0645200009892415	0.42780	2.593573	0.999890105895091	0.45129	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.9	4.77	0.60425	3.456000	0.52764	5.312000	0.48266	0.741000	0.86335	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.7798:0.0:0.2202:0.0	3.751	0.08092	335	0.86220	Protein kinase domain;Protein kinase domain;.;Protein kinase domain;Protein kinase domain;.;Protein kinase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.037261	0.020202	0.027174	0.046784	0.000000	0.051724	0.051829	0.053030	0.05	544.43	34	chr3	58410115	.	A	T	544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.647;DP=387;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.102;SOR=0.821	GT:AD:DP:GQ:PL	0/1:44,27:71:99:556,0,1089	9	0	1	0
chr3	62372521	62372521	-	CCG	exonic	FEZF2	.	nonframeshift insertion	FEZF2:NM_018008:exon2:c.347_348insCGG:p.G117_A118insG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0008	3.84e-05	1	26028	rs753783625	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0031	0.0029	0.0002	0.0002	0	0.0006	0.0001	0.0010	6.486e-05	0.0009	0.0037	0.0003	0.0003	0.0003	0.0003	0.0044	0.0002	0.0002	0.0030	0.0025	0.0002	0	0.0003	0.0003	0.0002	0	0	8.934e-05	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011057	0.012195	0.008163	0.003497	0.055556	0.020408	0.018382	0.013889	0.05	559.39	33	chr3	62372521	.	C	CCCG	559.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=364;ExcessHet=0;FS=3.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-1.667;SOR=0.307	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1107	9	0	1	0
chr3	62403142	62403142	G	A	exonic	CADPS	.	nonsynonymous SNV	CADPS:NM_183393:exon26:c.C3584T:p.T1195M,CADPS:NM_183394:exon27:c.C3704T:p.T1235M,CADPS:NM_003716:exon29:c.C3821T:p.T1274M	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0736996765988	.	.	1.65e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs754461043	1.232e-05	1.368e-05	1.09e-05	1.376e-05	3.48e-05	7.7e-06	6.35e-06	9.24e-06	5.03e-06	0	2.238e-05	0	2.52e-05	0	0	1.17e-05	0	3.48e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.585	0.75554	M	1.4	0.33630	T	-3.41	0.67129	D	0.786	0.78546	-0.6308	0.63537	T	0.241	0.60929	T	10	0.8287612	0.82045	D	0.074	0.71856	D	0.400	0.71401	0.308	0.27967	0.670479367014	0.66769	0.5034268943841254	0.50264	1.27933527	0.82483	0.668635368347	0.62643	T	0.110655	0.89833	T	0.152531	0.69504	D	0.0819533	0.75708	D	0.979839265346527	0.73038	D	0.978402	0.96278	D	0.5043588	0.67350	0.4655707	0.68986	0.5043588	0.67351	0.4655707	0.68987	-8.837	0.67148	D	.	.	0.134	0.37024	B	.;.;.;.;.	.;.;.;.;.	4.854802	0.79394	27.1	0.99919271386510533	0.98654	0.99011	0.89930	D	AEFBI	0.955716	0.97376	D	0.87244012582961	0.90348	10.36264	0.85430741323279	0.93266	11.93026	0.999999290407741	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	9.522000	0.97082	11.873000	0.98626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.392	0.94581	893	0.26510	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	34	chr3	62403142	.	G	A	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.445;DP=410;ExcessHet=0;FS=5.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.411;SOR=1.237	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	9	0	1	0
chr3	63831170	63831170	A	C	exonic	C3orf49	.	nonsynonymous SNV	C3orf49:NM_001355236:exon4:c.A631C:p.M211L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00506704006673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.221	0.28032	T	0.003	0.11197	B	0.003	0.08700	B	0.342008	0.13948	N	0.713881	1	0.08975	N	.	.	.	.	.	.	-0.75	0.21003	N	0.195	0.21449	-1.0526	0.13682	T	0.057	0.23904	T	8	0.07217845	0.10739	T	0.005067	0.12846	T	0.006	0.00375	0.255	0.19533	0.0297737177859	0.01360	0.018217260818407622	0.01775	.	.	.	.	.	0.014042	0.12031	T	-0.179273	0.23844	T	-0.495289	0.22836	T	0.087689608335495	0.10941	T	0.608539	0.22995	T	0.08981169	0.20996	0.15036981	0.35467	0.08981169	0.20995	0.15036981	0.35466	-1.606	0.01996	T	.	.	0.168	0.40408	B	.;.;.;.	.;.;.;.	-0.039357	0.04020	0.920	0.57435343462636457	0.05769	0.04264	0.09797	N	AEFBI	0.090701	0.18377	N	-0.986855568986404	0.08884	0.4182786	-1.04929086742339	0.08722	0.4302188	0.16188703384139	0.17605	0.475973	0.10046	0	0.446627	0.06534	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	6.03	-2.78	0.05512	-0.106000	0.10860	-0.267000	0.10379	0.756000	0.94297	0.011000	0.18532	0.000000	0.08366	0.674000	0.33367	0.452:0.1381:0.4099:0.0	6.637	0.22081	517	0.74620	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	761.43	36	chr3	63831170	.	A	C	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.825;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	9	0	1	0
chr3	63912714	63912714	-	GCC	exonic	ATXN7	.	nonframeshift insertion	ATXN7:NM_001177387:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377406:exon2:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_000333:exon3:c.116_117insGCC:p.P43_Q44insP,ATXN7:NM_001377405:exon3:c.116_117insGCC:p.P43_Q44insP	Spinocerebellar ataxia 7, Autosomal dominant	30	1415	44	2	31	79	0.0166782	.	.	.	2827531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0	0	0	0.0049	0.0169	0.125	0.0165	0.0008085	125	154602	rs770364745	0.0074	0.0063	0.0073	0.0075	0.0273	0.0072	0.0072	0.0223	0.0205	0.0021	0.0049	0.0091	0.0008	0.0031	0.0273	0.0077	0.0079	0.0069	0.0079	0.0079	0.0079	0.0079	0.0167	0.0075	0.0074	0.0150	0.0143	0.0022	0.0176	0.0167	0.0091	0.0006	0.0026	0.0350	0.0104	0.0132	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059524	0.064103	0.051282	0.044776	0.000000	0.214286	0.049296	0.042857	0.05	547.39	13	chr3	63912714	.	A	AGCC	547.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=186;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.37;ReadPosRankSum=2.14;SOR=0.963	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,462	9	0	1	0
chr3	64022429	64022429	C	A	exonic	PSMD6	.	nonsynonymous SNV	PSMD6:NM_001271780:exon2:c.G126T:p.E42D,PSMD6:NM_001271781:exon2:c.G123T:p.E41D,PSMD6:NM_014814:exon2:c.G240T:p.E80D,PSMD6:NM_001271779:exon3:c.G399T:p.E133D	.	428	1092	2	0	0	2	0.000914913	.	.	.	3592108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.00568170266468	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs766512436	1.026e-05	1.026e-05	5.445e-06	1.513e-05	0.0001	6.16e-06	4.89e-06	7.997e-05	6.236e-05	0	0	0	0	0	0	2.698e-06	0	0.0001	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.044	0.42487	D	0.072	0.45110	T	0.001	0.07471	B	0.013	0.16460	B	0.000000	0.84330	D	0.047004	1	0.81001	D	1.63	0.41750	L	.	.	.	-2.21	0.52128	N	0.671	0.70351	-0.7185	0.59536	T	0.237	0.60487	T	9	0.20300901	0.36440	T	0.005682	0.14712	T	0.151	0.39764	0.493	0.58048	0.801838272039	0.79998	0.5683056667283517	0.56758	0.464151656915	0.45893	0.696761369705	0.66676	T	0.191545	0.54642	T	-4.54509e-05	0.51647	T	-0.0351878	0.68023	D	0.452041864395142	0.30872	T	0.943406	0.78638	D	0.3690429	0.58514	0.22159903	0.46975	0.3690429	0.58514	0.22159903	0.46974	-6.501	0.53924	T	.	.	0.207	0.64925	B	.;.;.;.;.;.	.;.;.;.;.;.	3.058589	0.41064	21.3	0.99614914268387744	0.75052	0.77698	0.38233	D	AEFDBCI	0.514951	0.54211	D	0.032348417768535	0.43332	2.628135	0.161600494245199	0.47759	3.001423	0.999999974527461	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.19	5.19	0.71428	0.894000	0.27983	2.762000	0.34611	0.599000	0.40250	0.988000	0.36536	0.994000	0.32194	0.934000	0.47231	0.0:0.9146:0.0:0.0854	12.674	0.56247	561	0.71236	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1685.43	38	chr3	64022429	.	C	A	1685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.981;DP=478;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.013;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	9	0	1	0
chr3	64658741	64658741	A	G	exonic	ADAMTS9	.	nonsynonymous SNV	ADAMTS9:NM_001318781:exon4:c.T730C:p.W244R,ADAMTS9:NM_182920:exon4:c.T730C:p.W244R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0148853496304	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423412179	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.18956	T	0.348	0.17696	T	0.0	0.02946	B	0.0	0.01387	B	0.168753	0.17438	N	0.596536	0.943989	0.28595	N	-0.175	0.04276	N	0.3	0.61089	T	-1.33	0.33197	N	0.283	0.32037	-1.0355	0.18700	T	0.082	0.32237	T	10	0.06912777	0.09874	T	0.014885	0.35296	T	0.055	0.15663	0.403	0.43408	0.331619326243	0.32766	0.2480851996275321	0.24722	0.338253355066	0.35799	0.286027848721	0.08346	T	0.044253	0.26758	T	-0.256815	0.13276	T	-0.506044	0.21723	T	0.0304810968003591	0.02064	T	0.341266	0.07400	T	0.06304186	0.13231	0.061800756	0.11993	0.06304186	0.13230	0.061800756	0.11992	-0.323	0.00486	T	.	.	0.147	0.44293	B	.;.;.	.;.;.	0.159286	0.05500	1.965	0.49196751643335379	0.04169	0.25154	0.22613	N	AEFDBI	0.112355	0.22211	N	-1.14790889582476	0.05813	0.2660434	-1.08063686844056	0.08081	0.3958353	0.00267297194446538	0.09624	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	6.01	-0.391	0.11826	0.243000	0.17880	0.310000	0.17073	-0.534000	0.04951	0.016000	0.19238	0.000000	0.08366	0.025000	0.12405	0.6527:0.0:0.3473:0.0	9.444	0.37852	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1529.43	34	chr3	64658741	.	A	G	1529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.219;DP=472;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.435;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1214	9	0	1	0
chr3	65391268	65391268	T	G	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon14:c.A2290C:p.T764P,MAGI1:NM_001365903:exon14:c.A2293C:p.T765P,MAGI1:NM_001365904:exon14:c.A2293C:p.T765P,MAGI1:NM_001365905:exon14:c.A2293C:p.T765P,MAGI1:NM_004742:exon14:c.A2290C:p.T764P,MAGI1:NM_015520:exon14:c.A2290C:p.T764P	.	8	1462	50	2	0	54	0.018133	.	.	.	3547128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.032	0.00554250367539	0.0019	0.00179712	0.0025	0.0004	0.0011	0	0	0.0033	0.0022	0.0038	0.0022962	355	154602	rs61740330	0.0017	0.0017	0.0015	0.0019	0.0234	0.0017	0.0017	0.0202	0.0190	0.0004	0.0014	0.0105	2.519e-05	3.744e-05	0.0234	0.0014	0.0032	0.0038	0.0016	0.0016	0.0015	0.0017	0.0031	0.0014	0.0014	0.0019	0.0016	0.0004	0	0.0019	0.0115	0	9.413e-05	0.0102	0.0019	0.0047	0.0031	0.086	0.36709	T	0.299	0.22291	T	0.0	0.57599	B	0.001	0.55480	B	0.004631	0.33547	N	0.375437	0.959861	0.38149	D	-0.135	0.04517	N	2.25	0.18875	T	0.47	0.03090	N	0.105	0.13769	-1.0333	0.19395	T	0.034	0.14726	T	10	0.0046277046	0.00096	T	0.005543	0.14288	T	0.032	0.07718	.	.	0.23798241625	0.23396	0.13796831742168336	0.13720	0.725152338694	0.62432	0.317334890366	0.13017	T	0.041969	0.26030	T	-0.525761	0.00407	T	-0.530101	0.19277	T	0.00590482259284364	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	-12.517	0.87278	D	.	.	0.065	0.02399	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.980096	0.25155	16.66	0.96601938851103708	0.30409	0.52638	0.29179	D	AEFDBI	0.231897	0.35505	N	-0.698435024602363	0.16065	0.8152945	-0.620132010009374	0.18976	1.016116	0.998471281238113	0.37033	0.562547	0.31514	0	0.573888	0.26702	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.98	0.817	0.17914	-0.035000	0.12156	-0.272000	0.10340	0.665000	0.62972	0.814000	0.29906	0.430000	0.24851	0.993000	0.69303	0.0:0.2598:0.1263:0.614	5.872	0.18059	839	0.37672	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015609	0.010101	0.013587	0.023392	0.050000	0.000000	0.024390	0.003788	0.05	763.43	33	chr3	65391268	.	T	G	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.984;DP=390;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.279;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	9	0	1	0
chr3	65470460	65470460	T	C	exonic	MAGI1	.	nonsynonymous SNV	MAGI1:NM_001033057:exon5:c.A782G:p.H261R,MAGI1:NM_001365903:exon5:c.A785G:p.H262R,MAGI1:NM_001365904:exon5:c.A785G:p.H262R,MAGI1:NM_001365905:exon5:c.A785G:p.H262R,MAGI1:NM_004742:exon5:c.A782G:p.H261R,MAGI1:NM_015520:exon5:c.A782G:p.H261R	.	9	1511	1	1	0	3	0.000991736	.	.	.	2827542	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0085	0.00219649	0.0071	0.0025	0.0037	0	0.0194	0.0095	0.0144	0.0010	0.0070762	1094	154602	rs113860090	0.0081	0.0081	0.0083	0.0079	0.0090	0.0080	0.0079	0.0088	0.0088	0.0010	0.0046	0.0002	0	0.0198	0.0024	0.0090	0.0072	0.0012	0.0069	0.0070	0.0067	0.0071	0.0093	0.0066	0.0064	0.0087	0.0085	0.0023	0	0.0069	0	0	0.0182	0	0.0093	0.0091	0.0008	0.232	0.39575	T	0.192	0.35970	T	0.0	0.29746	B	0.003	0.33945	B	0.001180	0.39978	N	0.279693	0.598862	0.38475	D	1.43	0.35840	L	0.06	0.61798	T	-2.4	0.56945	N	0.202	0.29774	-0.8504	0.51940	T	0.115	0.40897	T	10	0.0041942894	0.00083	T	.	.	.	0.035	0.08770	.	.	0.555054148054	0.55164	0.15127597034633572	0.15049	0.176201244815	0.19835	0.393121242523	0.24109	T	0.193805	0.54938	T	-0.430664	0.01469	T	-0.382	0.35488	T	0.0181390247442827	0.00536	T	.	.	.	.	.	.	.	.	.	.	.	-4.014	0.25172	T	.	.	0.072	0.09045	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.498243	0.32247	18.98	0.87250349242163694	0.17094	0.72337	0.35410	D	AEFI	0.164353	0.29073	N	-0.0691483130477358	0.38750	2.27448	-0.0549826536372779	0.37275	2.180328	0.101472811901019	0.16379	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.5	1.74	0.23636	0.627000	0.24200	0.699000	0.20831	0.644000	0.52426	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.1351:0.127:0.7379	6.848	0.23179	832	0.38914	.;.;Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003550	0.005102	0.004087	0.000000	0.000000	0.000000	0.006211	0.003817	0.05	421.43	43	chr3	65470460	.	T	C	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.181;DP=366;ExcessHet=0;FS=2.748;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=0.228;SOR=0.324	GT:AD:DP:GQ:PL	0/1:23,19:42:99:433,0,559	9	0	1	0
chr3	66380844	66380844	C	T	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon11:c.G1786A:p.V596I,LRIG1:NM_001377348:exon11:c.G1759A:p.V587I,LRIG1:NM_001377349:exon11:c.G1504A:p.V502I,LRIG1:NM_001377344:exon17:c.G2713A:p.V905I,LRIG1:NM_001377345:exon18:c.G2008A:p.V670I,LRIG1:NM_001377346:exon18:c.G2008A:p.V670I,LRIG1:NM_015541:exon18:c.G2788A:p.V930I	.	.	.	.	.	.	.	.	.	.	.	2211343	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0197355843192	0.0002	0.000199681	0.0001	0.0002	0.0002	0.0003	0	0.0001	0	6.111e-05	0.0001035	16	154602	rs143941704	5.678e-05	5.678e-05	5.037e-05	6.326e-05	0.0003	4.677e-05	4.302e-05	0.0002	0.0001	0.0001	0.0003	0	7.557e-05	0	0	4.317e-05	0.0002	3.478e-05	0.0001	0.0001	8.995e-05	0.0001	0.0003	7.571e-05	6.277e-05	0.0001	8.431e-05	0.0002	0	0.0003	0	0	0	0	7.35e-05	0	0	0.695	0.04239	T	1.0	0.01155	T	0.034	0.44546	B	0.012	0.40572	B	0.496837	0.05068	N	1.305950	1	0.18878	N	1.615	0.41426	L	-0.26	0.68892	T	-0.2	0.10136	N	0.077	0.16168	-0.9899	0.32626	T	0.149	0.47575	T	10	0.03799829	0.02189	T	0.019736	0.42178	T	0.067	0.19503	.	.	0.361733483669	0.35779	0.027865798404779894	0.02736	0.0755267479925	0.08473	0.23621198535	0.02459	T	0.049261	0.28255	T	-0.356245	0.04347	T	-0.45601	0.27035	T	0.0260494340197127	0.01413	T	.	.	.	0.01684384	0.00226	0.020954192	0.00165	0.01684384	0.00226	0.020954192	0.00164	-4.137	0.25848	T	.	.	0.097	0.20702	B	.;.	.;.	0.539193	0.09077	5.861	0.56028345424208903	0.05465	0.20815	0.21179	N	AEFDBCI	0.045332	0.07401	N	-0.843527200321138	0.12209	0.5937671	-0.831278790240567	0.13738	0.7143168	0.999995724891619	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.91	3.12	0.34986	-0.011000	0.12659	-1.372000	0.05595	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7073:0.1437:0.149	7.467	0.26498	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1279.43	35	chr3	66380844	.	C	T	1279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.769;SOR=0.629	GT:AD:DP:GQ:PL	0/1:47,55:102:99:1291,0,1038	9	0	1	0
chr3	68988936	68988936	-	G	exonic	EOGT	.	frameshift insertion	EOGT:NM_001278689:exon11:c.912_913insC:p.D305Rfs*8	Adams-Oliver syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.196e-06	2.052e-06	1.447e-06	2.964e-06	2.592e-05	5.9e-07	1.6e-07	4.3e-06	1.61e-06	0	0	0	0	0	0	0	1.745e-05	2.592e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1970.39	36	chr3	68988936	.	C	CG	1970.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.388;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=0.453;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1034:.	9	0	1	0
chr3	68988937	68988937	A	T	exonic	EOGT	.	stopgain	EOGT:NM_001278689:exon11:c.T912A:p.Y304X	Adams-Oliver syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.928e-06	3.423e-06	1.447e-06	4.447e-06	2.593e-05	6.9e-07	4.6e-07	4.3e-06	1.61e-06	0	0	0	0	0	0	9.373e-07	1.745e-05	2.593e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000084	0.51296	D	0.176662	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.429	0.46835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.199242	0.20915	T	-0.523974	0.19892	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.390004	0.95131	34	0.98951932757339234	0.49150	0.39054	0.26127	N	ALL	0.187795	0.31509	N	-0.852365044177792	0.11992	0.5818767	-0.915265620071205	0.11733	0.5995991	0.99999459126098	0.74766	0.744818	0.98587	0	0.601575	0.49859	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.72	-6.23	0.01875	-0.008000	0.12724	-2.779000	0.03370	-0.267000	0.06790	0.786000	0.29545	0.000000	0.08366	0.980000	0.58198	0.8518:0.0:0.1482:0.0	16.301	0.82641	645	0.63593	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	6443.32	36	chr3	68988937	.	A	T	6443.32	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.789;DP=706;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.108;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1034:.	9	0	1	0
chr3	69101876	69101876	G	A	exonic	ARL6IP5	.	nonsynonymous SNV	ARL6IP5:NM_006407:exon2:c.G214A:p.V72M	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.591	0.116183065445	.	0.000399361	0.0002	0	0	0	0	0	0.0011	0.0014	0.0001617	25	154602	rs572858493	8.073e-05	8.072e-05	3.948e-05	0.0001	0.0011	6.868e-05	6.421e-05	0.0009	0.0008	0	4.474e-05	0	0	0	0	1.889e-05	6.624e-05	0.0011	4.604e-05	5.252e-05	5.147e-05	4.037e-05	0.0010	2.111e-05	1.528e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.942e-05	0	0.0010	0.004	0.65419	D	0.015	0.61642	D	0.99	0.63424	D	0.799	0.58136	P	0.000010	0.62929	D	0.114058	0.999986	0.81001	D	2.675	0.78361	M	-1.54	0.81640	D	-1.68	0.40082	N	0.62	0.63544	0.329	0.88016	D	0.623	0.86709	D	10	0.17694792	0.32704	T	0.116183	0.79559	D	0.591	0.83691	0.58	0.70604	0.913313443096	0.91244	0.8256454972724676	0.82522	0.644448801258	0.57936	0.539638102055	0.44394	T	0.221505	0.58509	T	-0.178044	0.24028	T	-0.0740762	0.65335	T	0.238232485573491	0.22337	T	0.904909	0.66542	D	0.13049585	0.30447	0.1675674	0.38650	0.13049585	0.30447	0.1675674	0.38650	-4.707	0.33489	T	.	.	0.326	0.54961	B	.	.	4.530633	0.71121	25.6	0.99867605178413277	0.94547	0.97284	0.73788	D	AEFGBI	0.782758	0.71395	D	0.533692140866705	0.69097	5.308662	0.434921866556404	0.63754	4.615658	0.999999966452191	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.89	0.63387	5.573000	0.67117	7.604000	0.61663	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.1527:0.0:0.8473:0.0	10.2	0.42254	333	0.86326	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1376.43	34	chr3	69101876	.	G	A	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=416;ExcessHet=0;FS=5.222;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.745;SOR=1.269	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	9	0	1	0
chr3	69109111	69109111	G	T	exonic	LMOD3	.	nonsynonymous SNV	LMOD3:NM_198271:exon3:c.C1667A:p.P556Q,LMOD3:NM_001304418:exon4:c.C1667A:p.P556Q	Nemaline myopathy 10, Autosomal recessive	435	1071	16	0	0	16	0.00741427	.	.	.	215293	not_specified|Nemaline_myopathy_10|not_provided	MedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.234	.	0.0003	0.00299521	0.0020	0.0002	0.0003	0	0	0.0007	0	0.0089	0.0010349	160	154602	rs201205115	0.0007	0.0007	0.0005	0.0009	0.0073	0.0007	0.0007	0.0068	0.0067	0	0.0002	0	0	1.904e-05	0.0038	0.0003	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0071	0.0004	0.0004	0.0052	0.0045	4.821e-05	0	0.0001	0	0	0	0	0.0005	0.0009	0.0071	0.001	0.78490	D	0.045	0.49390	D	0.622	0.39964	P	0.11	0.31460	B	.	.	.	.	0.999999	0.58761	D	1.7	0.43825	L	2.6	0.13204	T	-5.59	0.86527	D	0.753	0.76203	-1.1277	0.01896	T	0.039	0.16849	T	9	0.009101003	0.00206	T	.	.	.	0.234	0.53644	.	.	0.441221003447	0.43743	0.4030161126887055	0.40217	0.0810768927185	0.09121	0.657460093498	0.61046	T	0.054363	0.29704	T	-0.241252	0.15189	T	-0.115872	0.62140	T	0.115575303002286	0.13992	T	0.625137	0.24143	T	0.59228265	0.72275	0.81371063	0.89136	0.59228265	0.72276	0.81371063	0.89137	-9.812	0.72778	D	.	.	0.657	0.71193	P	.;.;.	.;.;.	3.986647	0.58650	24.0	0.96878609923570203	0.31450	0.95287	0.64137	D	AEFDBHCI	0.801815	0.72742	D	0.30940619591794	0.56629	3.828033	0.390226168124508	0.60962	4.289849	0.99999999999988	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.662026	0.63922	0	.	.	5.53	5.53	0.82530	6.791000	0.74907	11.825000	0.97352	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:1.0:0.0	16.2	0.81882	349	0.85513	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004145	0.000000	0.004076	0.003497	0.000000	0.000000	0.003049	0.007576	0.05	605.43	36	chr3	69109111	.	G	T	605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.837;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.751;SOR=0.747	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1133	9	0	1	0
chr3	69118710	69118710	A	G	exonic	LMOD3	.	nonsynonymous SNV	LMOD3:NM_198271:exon2:c.T1645C:p.Y549H,LMOD3:NM_001304418:exon3:c.T1645C:p.Y549H	Nemaline myopathy 10, Autosomal recessive	436	1084	2	0	0	2	0.000921659	.	.	.	519863	Nemaline_myopathy_10|not_provided	MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0273519647787	0.0007	0.000399361	0.0006	0.0008	0	0	0	0.0008	0.0012	0.0004	0.0004981	77	154602	rs200045981	0.0006	0.0006	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	0.0005	0.0002	0.0002	0	3.747e-05	0.0009	0.0007	0.0004	0.0002	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0005	0.0005	0.0004	0.0011	0.0002	0	0	0	0	0.0007	0.0010	0	0.002	0.72154	D	0.197	0.27855	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	2.5	0.14408	T	-0.72	0.20358	N	0.726	0.72746	-1.0865	0.06138	T	0.102	0.37644	T	10	0.22268426	0.39027	T	0.027352	0.50169	D	0.244	0.55061	.	.	0.341460817117	0.33762	0.3829513849708383	0.38210	0.17845421502	0.20078	0.823028028011	0.85493	D	0.011465	0.10227	T	-0.262886	0.12565	T	-0.225808	0.52176	T	0.0399555110595396	0.03682	T	0.874313	0.58483	D	0.36696622	0.58360	0.345675	0.60246	0.36696622	0.58360	0.345675	0.60246	-4.235	0.27255	T	.	.	0.368	0.59606	A	.;.;.	.;.;.	4.389300	0.67730	25.1	0.99784524566619426	0.87131	0.98095	0.79555	D	AEFBI	0.900248	0.84556	D	0.761227929188055	0.83634	8.069072	0.755815340059471	0.86592	8.938514	0.999999999476414	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.84	5.84	0.93373	7.054000	0.76356	11.098000	0.86062	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	1.0:0.0:0.0:0.0	16.223	0.82095	373	0.84140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.011364	0.05	1603.43	40	chr3	69118710	.	A	G	1603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=468;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.289;SOR=0.772	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	9	0	1	0
chr3	69181256	69181256	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon21:c.C2494G:p.Q832E	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0529136556972	0.0023	0.000998403	0.0025	0.0010	0.0023	0	0.0005	0.0036	0.0022	0.0010	0.0023997	371	154602	rs199706552	0.0028	0.0028	0.0028	0.0028	0.0160	0.0027	0.0027	0.0133	0.0123	0.0010	0.0027	0.0156	0	0.0004	0.0160	0.0028	0.0034	0.0011	0.0022	0.0022	0.0023	0.0020	0.0033	0.0020	0.0019	0.0026	0.0023	0.0006	0	0.0033	0.0184	0	0.0006	0.0068	0.0025	0.0057	0.0010	0.01	0.56456	D	0.186	0.37872	T	0.737	0.42882	P	0.237	0.38508	B	0.000006	0.62929	D	0.109676	0.999491	0.47278	D	2.14	0.59869	M	-1.72	0.83241	D	-0.34	0.12661	N	0.524	0.55366	-0.0192	0.81855	T	0.475	0.79847	T	10	0.009417921	0.00213	T	0.052914	0.65261	D	0.434	0.73951	.	.	0.56437525427	0.56100	0.7345578573900866	0.73400	0.0547097148445	0.06054	0.462807297707	0.33696	T	0.007676	0.16191	T	-0.239893	0.15363	T	-0.117374	0.62017	T	0.0406746991656434	0.03812	T	0.959004	0.92475	D	0.12357676	0.29014	0.239332	0.49278	0.12357676	0.29014	0.239332	0.49277	-2.821	0.08378	T	.	.	0.209	0.43585	B	.;.	.;.	3.343665	0.46082	22.2	0.99272507748993633	0.57593	0.97791	0.77159	D	AEFGBCI	0.919008	0.88890	D	0.487089455058406	0.66336	4.936884	0.614264542042888	0.75976	6.406598	1.0	0.98316	0.730579	0.87903	0	0.546412	0.12157	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.83	5.83	0.93059	9.602000	0.97623	9.945000	0.82685	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.114	0.97919	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.016304	0.011696	0.050000	0.017241	0.000000	0.003788	0.05	2215.43	82	chr3	69181256	.	G	C	2215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=801;ExcessHet=0;FS=2.583;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.546;SOR=0.503	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	9	0	1	0
chr3	69193740	69193740	G	C	exonic	FRMD4B	.	nonsynonymous SNV	FRMD4B:NM_015123:exon17:c.C1622G:p.A541G	.	442	1074	6	0	0	6	0.00278552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	.	0.0055	0.00239617	0.0062	0.0012	0.0022	0	0.0042	0.0088	0.0101	0.0049	0.0061254	947	154602	rs115964883	0.0081	0.0082	0.0082	0.0081	0.0094	0.0080	0.0080	0.0092	0.0092	0.0007	0.0031	0.0033	2.519e-05	0.0053	0.0023	0.0094	0.0074	0.0054	0.0054	0.0055	0.0054	0.0055	0.0097	0.0051	0.0050	0.0091	0.0089	0.0011	0	0.0028	0.0026	0	0.0042	0	0.0097	0.0033	0.0037	0.003	0.68238	D	0.093	0.54934	T	0.996	0.68779	D	0.851	0.60700	P	0.000001	0.62929	D	0.055902	0.999997	0.58761	D	2.625	0.76847	M	-2.21	0.86963	D	-2.68	0.57275	D	0.669	0.71321	0.509	0.90670	D	0.696	0.89528	D	10	0.006872773	0.00156	T	.	.	.	0.541	0.80842	.	.	0.78523500097	0.78325	0.30783445442865864	0.30696	0.187826864618	0.21109	0.492879807949	0.37837	T	0.179843	0.65501	T	-0.155012	0.27531	T	0.0155905	0.71344	D	0.0473087162063942	0.05021	T	0.929107	0.74412	D	0.4346774	0.63058	0.4597226	0.68616	0.4346774	0.63059	0.4597226	0.68616	-10.766	0.78359	D	.	.	0.282	0.51463	B	.;.	.;.	4.631592	0.73641	26.0	0.99795902521344293	0.88106	0.97474	0.74982	D	AEFBCI	0.912171	0.87244	D	0.734428777917962	0.81890	7.629033	0.730632863531478	0.84705	8.366976	0.999999999999999	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	9.602000	0.97623	11.929000	0.99898	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.356000	0.25796	0.0:0.0:1.0:0.0	19.805	0.96520	612	0.66786	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	2269.43	189	chr3	69193740	.	G	C	2269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=570;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.707;SOR=0.594	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr3	72908447	72908447	A	G	exonic	GXYLT2	.	nonsynonymous SNV	GXYLT2:NM_001080393:exon2:c.A356G:p.N119S	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0027	0.00119808	0.0038	0.0010	0.0004	0	0.0039	0.0056	0.0056	0.0024	0.0035769	553	154602	rs191393310	0.0034	0.0034	0.0033	0.0034	0.0038	0.0033	0.0033	0.0034	0.0034	0.0004	0.0014	0.0104	0.0002	0.0040	0.0038	0.0035	0.0034	0.0025	0.0032	0.0032	0.0035	0.0030	0.0052	0.0030	0.0029	0.0047	0.0046	0.0006	0	0.0022	0.0081	0	0.0035	0.0102	0.0052	0.0028	0.0015	0.254	0.16903	T	0.198	0.27767	T	0.004	0.12183	B	0.029	0.21540	B	0.001180	0.39978	N	0.276343	0.682303	0.30267	N	0.44	0.12706	N	0.82	0.48142	T	-0.93	0.24898	N	0.194	0.21319	-1.0296	0.20583	T	0.066	0.27156	T	10	0.010879308	0.00240	T	.	.	.	0.094	0.27141	.	.	0.312608672186	0.30878	0.3450169498023485	0.34415	0.237996932792	0.26348	0.291936814785	0.09204	T	0.088135	0.38094	T	-0.644762	0.00078	T	-0.694928	0.06107	T	0.00379635748568261	0.00040	T	0.608739	0.23025	T	0.04616928	0.07681	0.05321364	0.08918	0.04616928	0.07680	0.05321364	0.08918	-3.306	0.13815	T	.	.	0.061	0.01126	B	.	.	1.397835	0.18117	13.56	0.78133591391710899	0.12169	0.89717	0.50362	D	AEFBCI	0.554472	0.56530	D	-0.498292687934443	0.22137	1.179899	-0.271142621926909	0.29054	1.624727	0.999998936519779	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.526803	0.08958	0	.	.	5.44	4.28	0.50183	3.372000	0.52115	1.235000	0.25068	-0.070000	0.16343	0.986000	0.36153	0.000000	0.08366	0.973000	0.55318	0.9289:0.0:0.0711:0.0	11.369	0.48927	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	740.43	64	chr3	72908447	.	A	G	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=376;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.05;SOR=0.522	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1032	9	0	1	0
chr3	73062596	73062596	C	T	exonic	EBLN2	.	nonsynonymous SNV	EBLN2:NM_018029:exon1:c.C515T:p.P172L	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	.	0.0115815	0.0058	0.0001	0.0005	0	0	0	0.0056	0.0420	0.0050646	783	154602	rs200718150	0.0024	0.0024	0.0013	0.0034	0.0376	0.0023	0.0023	0.0366	0.0361	0	0.0002	0	2.519e-05	0	0.0003	1.889e-05	0.0030	0.0376	0.0015	0.0015	0.0007	0.0023	0.0437	0.0013	0.0012	0.0389	0.0370	0.0001	0	0.0003	0	0	0	0	0	0.0014	0.0437	0.097	0.30943	T	0.122	0.35710	T	0.997	0.70673	D	0.975	0.73362	D	.	.	.	.	0.999995	0.08975	N	0.695	0.17993	N	.	.	.	-3.17	0.64363	D	0.188	0.20528	-1.0174	0.24560	T	0.102	0.37669	T	7	0.0032675862	0.00056	T	.	.	.	0.057	0.16321	0.428	0.47515	0.156986980423	0.15292	0.031591400297448835	0.03108	0.0177108750862	0.01731	0.429879635572	0.29191	T	0.028676	0.20717	T	-0.474699	0.00795	T	-0.425372	0.30461	T	0.0574022526149461	0.06754	T	0.442056	0.12263	T	0.078201234	0.17795	0.1561364	0.36568	0.078201234	0.17794	0.1561364	0.36567	-2.038	0.03327	T	.	.	0.367	0.57677	A	.	.	1.353112	0.17613	13.27	0.97145696462405118	0.32564	0.01832	0.05685	N	AEFBI	0.026340	0.01961	N	-0.405049778883976	0.25291	1.371857	-0.643069018172606	0.18391	0.9822884	0.763362079681197	0.23547	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	0.468	0.468	0.15943	0.305000	0.19006	0.063000	0.14158	0.469000	0.21855	0.405000	0.26210	0.003000	0.18671	0.351000	0.25682	.	.	.	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.017241	0.003049	0.015152	0.05	3738.43	34	chr3	73062596	.	C	T	3738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=1051;ExcessHet=0;FS=2.023;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.383;SOR=0.822	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	9	0	1	0
chr3	73608602	73608602	C	T	exonic	PDZRN3	.	nonsynonymous SNV	PDZRN3:NM_015009:exon2:c.G806A:p.S269N	.	435	1086	0	1	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00433894234783	.	.	1.858e-05	0	0	0	0	3.353e-05	0	0	1.29e-05	2	154602	rs749181467	1.515e-05	1.642e-05	1.645e-05	1.383e-05	0.0005	9.92e-06	8.47e-06	0.0001	7.56e-05	0	0	0	0	1.876e-05	0.0005	1.359e-05	4.992e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.539e-05	2.18e-06	8.2e-07	.	.	0	0	6.539e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.378	0.16086	T	0.0	0.02946	B	0.0	0.01387	B	0.339235	0.04177	N	1.384660	0.999831	0.21134	N	0.455	0.12820	N	1.76	0.25996	T	-0.35	0.12847	N	0.301	0.36359	-1.0970	0.04474	T	0.042	0.17910	T	10	0.11088106	0.20743	T	0.004339	0.10561	T	0.104	0.29647	0.433	0.48336	0.275349458131	0.27150	0.24674173881839512	0.24588	0.180131824157	0.20266	0.369983494282	0.20830	T	0.013617	0.11743	T	-0.417487	0.01775	T	-0.72981	0.04336	T	0.0232508312910795	0.01053	T	0.454055	0.20320	T	0.0354324	0.04169	0.06526559	0.13202	0.0354324	0.04168	0.06526559	0.13201	-7.481	0.66230	T	.	.	0.091	0.36535	B	.;.	.;.	1.322928	0.17275	13.06	0.79469583886917716	0.12756	0.91688	0.54053	D	AEFBI	0.509180	0.53875	D	-0.82400347699134	0.12699	0.6206354	-0.655500877783352	0.18078	0.9641541	0.999999503111934	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.42	3.65	0.40985	3.758000	0.54932	3.241000	0.36966	-0.852000	0.02700	1.000000	0.71638	0.997000	0.33255	0.737000	0.35335	0.0:0.8611:0.0:0.1389	12.083	0.52981	969	0.06854	PDZ domain|PDZ domain|PDZ domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	654.43	35	chr3	73608602	.	C	T	654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.712;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=-0.222;SOR=0.77	GT:AD:DP:GQ:PL	0/0:29,0:29:78:0,78,1170	9	0	1	0
chr3	74285470	74285470	C	T	exonic	CNTN3	.	nonsynonymous SNV	CNTN3:NM_020872:exon19:c.G2539A:p.G847R	.	.	.	.	.	.	.	.	.	.	.	3304727	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0150206924785	.	.	9.137e-05	0	0.0002	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs761438541	6.371e-05	6.43e-05	6.679e-05	6.059e-05	0.0004	5.302e-05	4.918e-05	0.0003	0.0002	0	0.0004	0	0	0	0.0003	4.05e-05	0.0001	0.0002	7.244e-05	7.227e-05	5.148e-05	9.44e-05	0.0002	3.98e-05	3.133e-05	5.304e-05	3.342e-05	0	0	0.0002	0	0	0	0	0.0001	0.0005	0	0.033	0.44358	D	0.104	0.38160	T	0.0	0.02946	B	0.004	0.10090	B	0.007534	0.31343	N	0.367358	0.999999	0.08975	N	1.55	0.39271	L	0.32	0.58468	T	-0.21	0.10308	N	0.294	0.33250	-0.9320	0.43844	T	0.158	0.49027	T	10	0.1329433	0.25304	T	0.015021	0.35506	T	0.111	0.31313	0.576	0.70087	0.679415040988	0.67669	0.4750782146558895	0.47426	0.725708912501	0.62471	0.315173685551	0.12689	T	0.041441	0.25860	T	-0.364472	0.03884	T	-0.455339	0.27108	T	0.0689014993054024	0.08496	T	0.706729	0.31713	T	0.11484344	0.27108	0.102954894	0.24689	0.11484344	0.27108	0.102954894	0.24689	-5.862	0.45110	T	.	.	0.28	0.51314	B	.	.	2.629330	0.34189	19.56	0.99324739138689799	0.59546	0.39864	0.26308	N	AEFI	0.228672	0.35231	N	-0.389135137090858	0.25855	1.40665	-0.317849359856073	0.27521	1.527775	0.0399902159494241	0.14418	0.487112	0.14033	0	0.573888	0.26702	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.28	5.28	0.74118	3.038000	0.49473	2.640000	0.33748	0.599000	0.40250	0.419000	0.26322	0.027000	0.21108	0.561000	0.30436	0.0:0.8678:0.1322:0.0	16.295	0.82595	933	0.16026	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1884.43	36	chr3	74285470	.	C	T	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.38;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=0.666;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr3	75665953	75665953	C	A	exonic	FRG2C	.	nonsynonymous SNV	FRG2C:NM_001124759:exon4:c.C761A:p.A254D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.440575189928	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364971682	4.558e-05	0.0033	4.398e-05	4.719e-05	4.537e-05	3.576e-05	3.353e-05	3.49e-05	3.149e-05	0	2.245e-05	0	0	0.0002	0	4.537e-05	0.0001	1.164e-05	0.0009	0.0077	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0003	0	0.0006	0.0003	0	0.0024	0	0.0012	0	0	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.991	0.79672	D	0.233749	0.03535	N	1.797620	1	0.08975	N	0.55	0.14455	N	0.99	0.41750	T	-2.42	0.53096	N	0.082	0.05799	-0.9110	0.46732	T	0.159	0.49329	T	9	0.1416693	0.26915	T	0.440575	0.94157	D	0.114	0.32008	0.131	0.03577	0.277317399466	0.27352	0.010577077127129755	0.01018	.	.	.	.	.	0.032978	0.22720	T	-0.180789	0.23619	T	-0.497467	0.22612	T	0.722561776638031	0.41828	D	0.50065	0.15660	T	0.14399366	0.33070	0.1542791	0.36215	0.14399366	0.33070	0.1542791	0.36214	-3.892	0.22182	T	.	.	0.174	0.38208	B	.;.	.;.	1.594847	0.20394	14.73	0.99228569558388835	0.56151	0.00242	0.01343	N	AEFI	0.033741	0.04059	N	-0.465438061049469	0.23220	1.245387	-0.722740132640809	0.16395	0.8671031	0.992148497051086	0.32735	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	0.665	0.665	0.17066	-0.757000	0.04877	.	.	-1.612000	0.00879	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	.	.	.	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	115.43	77	chr3	75665953	.	C	A	115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.423;DP=712;ExcessHet=0;FS=8.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.6;MQRankSum=-4.194;QD=1.15;ReadPosRankSum=-0.638;SOR=1.328	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	9	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,117:170:99:0|1:75730450_C_T:4753,0,1853:75730450	0	0	10	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	379.75	94	chr3	75730611	.	G	T	379.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.22;DP=666;ExcessHet=1.5895;FS=30.378;InbreedingCoeff=-0.2547;MLEAC=4;MLEAF=0.2;MQ=56.6;MQRankSum=-6.063;QD=1.27;ReadPosRankSum=-2.301;SOR=6.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,10:67:99:.:.:183,0,2293:.	6	0	4	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:173,34:207:99:.:.:364,0,6402:.	0	0	10	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,83:208:99:.:.:2324,0,4542:.	0	0	10	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,81:209:99:0|1:75736920_C_A:2963,0,5087:75736920	1	0	9	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,72:200:99:0|1:75736920_C_A:2638,0,5134:75736920	1	0	9	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	4700.28	186	chr3	75736981	.	T	C	4700.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.497;DP=1403;ExcessHet=4.5998;FS=0.574;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=52.94;MQRankSum=-7.6;QD=6.02;ReadPosRankSum=-0.695;SOR=0.76	GT:AD:DP:GQ:PL	0/1:110,70:180:99:1499,0,2847	1	0	6	3
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:88,72:160:99:1721,0,2527	2	0	8	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:74,95:169:99:2137,0,2449	1	0	9	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,94:171:99:0|1:75737092_C_T:3695,0,2950:75737092	0	0	10	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,94:172:99:0|1:75737092_C_T:3692,0,2992:75737092	0	0	10	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,92:171:99:0|1:75737092_C_T:3625,0,3040:75737092	0	0	10	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,77:157:99:0|1:75737092_C_T:2992,0,3127:75737092	0	0	10	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,47:132:99:0|1:75737092_C_T:1718,0,3407:75737092	1	0	9	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	463.95	117	chr3	75737228	.	T	C	463.95	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.47;DP=1001;ExcessHet=0.7463;FS=19.425;InbreedingCoeff=-0.1905;MLEAC=3;MLEAF=0.15;MQ=57.66;MQRankSum=-8.581;QD=1.45;ReadPosRankSum=-2.284;SOR=2.9	GT:AD:DP:GQ:PL	0/1:86,12:98:99:191,0,3530	7	0	3	0
chr3	75737432	75737432	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2191G:p.M731V,ZNF717:NM_001290208:exon5:c.A2191G:p.M731V,ZNF717:NM_001290209:exon5:c.A2041G:p.M681V	.	327	1193	2	0	0	2	0.000837521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.000798811264289	.	.	.	.	.	.	.	.	.	.	.	.	.	rs970408528	6.416e-06	6.841e-06	8.444e-06	4.334e-06	0.0002	3.02e-06	2.19e-06	9.22e-06	3.45e-06	0	0	0	5.567e-05	0	0.0002	1.85e-06	6.862e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.29720	N	.	.	.	3.32	0.06214	T	-0.1	0.08495	N	0.044	0.01658	-0.9609	0.39012	T	0.016	0.06425	T	9	0.07448462	0.11390	T	7.99E-4	0.00629	T	0.151	0.39764	.	.	0.0138822411134	0.00435	0.017995381911134797	0.01753	.	.	0.290602117777	0.09010	T	.	.	.	-0.191343	0.22062	T	-0.512627	0.21046	T	0.0411555045945869	0.03900	T	0.0953905	0.00711	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02518	B	.	.	0.730558	0.10996	7.658	0.37201905252011835	0.02437	0.01152	0.04164	N	AEFDBHCI	0.073079	0.14605	N	-1.33806866314382	0.03250	0.1448652	-1.42357960019624	0.03018	0.1399707	0.99994101693999	0.47345	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.756233	0.99697	0	.	.	1.49	0.19	0.14406	-1.959000	0.01609	.	.	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2697:0.0:0.2747:0.4557	2.53	0.04415	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	110.43	215	chr3	75737432	.	T	C	110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=1539;ExcessHet=0;FS=2.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.5;MQRankSum=-4.266;QD=1.21;ReadPosRankSum=-0.175;SOR=1.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:156,0:156:99:.:.:0,120,1800:.	9	0	1	0
chr3	75737446	75737446	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2177A:p.R726Q,ZNF717:NM_001290208:exon5:c.G2177A:p.R726Q,ZNF717:NM_001290209:exon5:c.G2027A:p.R676Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00586424128426	.	.	.	.	.	.	.	.	.	.	0.0550177	1432	26028	rs76585055	7.841e-06	1.368e-05	1.126e-05	4.333e-06	0.0001	4.21e-06	3.08e-06	5.425e-05	3.543e-05	0	0	0	0.0001	0	0	3.7e-06	3.432e-05	0	1.971e-05	2.627e-05	2.569e-05	1.345e-05	7.245e-05	5.24e-06	2.45e-06	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	0	0	0	0.08	0.33585	T	0.461	0.12562	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.33	0.06138	T	-0.22	0.10480	N	0.052	0.02366	-0.9360	0.43241	T	0.006	0.01907	T	9	0.024029434	0.00647	T	0.005864	0.15251	T	0.071	0.20720	.	.	0.0138822411134	0.00435	0.008838497797171557	0.00847	.	.	0.222376331687	0.01452	T	.	.	.	-0.275709	0.11127	T	-0.633814	0.10126	T	0.0623682253880014	0.07538	T	0.164884	0.01516	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.17953	B	.	.	0.469302	0.08392	5.143	0.67660026314013311	0.08421	0.00069	0.00489	N	AEFDBHCI	0.037930	0.05291	N	-2.09107590053193	0.00134	0.005734537	-2.15018099873588	0.00145	0.006361015	0.999998501794458	0.74766	0.581397	0.33459	0	0.78372	0.99691	0	0.486962	0.07600	0	0.756233	0.99697	0	.	.	1.75	-3.5	0.04411	-4.902000	0.00201	.	.	-0.774000	0.03397	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3116:0.2557:0.0:0.4327	2.730	0.04903	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	164.43	231	chr3	75737446	.	C	T	164.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=1673;ExcessHet=0;FS=1.254;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.34;MQRankSum=-3.882;QD=1.75;ReadPosRankSum=0.065;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:253,0:253:99:.:.:0,120,1800:.	9	0	1	0
chr3	75737503	75737503	T	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2120C:p.N707T,ZNF717:NM_001290208:exon5:c.A2120C:p.N707T,ZNF717:NM_001290209:exon5:c.A1970C:p.N657T,ZNF717:NM_001324027:exon5:c.A2120C:p.N707T	.	329	1190	3	0	0	3	0.00125892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.000625535279908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	0.895327	0.36045	D	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.117	0.10626	-0.9611	0.38974	T	0.018	0.07612	T	9	0.05207154	0.05184	T	6.26E-4	0.00303	T	0.091	0.26358	.	.	0.0138822411134	0.00435	0.007749801125605798	0.00739	.	.	0.288034617901	0.08636	T	.	.	.	-0.226952	0.17053	T	-0.563777	0.16024	T	0.0743140232152075	0.09244	T	0.0631937	0.00460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31931	B	.	.	0.722317	0.10914	7.584	0.62505135950074286	0.06980	0.00330	0.01723	N	AEFDBHCI	0.050091	0.08720	N	-1.39371744401217	0.02696	0.1194333	-1.5759170739318	0.01803	0.08210552	0.999999003011436	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.57	-3.14	0.04928	-2.740000	0.00869	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.175:0.279:0.1766:0.3694	0.575	0.00656	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	265.43	221	chr3	75737503	.	T	G	265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.12;DP=1603;ExcessHet=0;FS=10.032;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-3.796;QD=1.69;ReadPosRankSum=0.422;SOR=1.716	GT:AD:DP:GQ:PL	0/0:222,0:222:99:0,120,1800	9	0	1	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,152:228:99:.:.:5910,0,2680:.	0	0	10	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,166:253:99:0|1:75737590_A_G:6638,0,3154:75737590	0	0	10	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,177:276:99:0|1:75737590_A_G:7134,0,3624:75737590	0	0	10	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,184:279:99:0|1:75737590_A_G:7440,0,3431:75737590	0	0	10	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,176:272:99:0|1:75737590_A_G:7101,0,3501:75737590	0	0	10	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,144:243:99:0|1:75737590_A_G:5749,0,3724:75737590	0	0	10	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,71:179:99:0|1:75737814_C_T:2632,0,4071:75737814	0	0	10	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,37:151:99:0|1:75737881_T_C:972,0,4539:75737881	1	0	9	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,28:147:99:0|1:75737881_T_C:764,0,4913:75737881	1	0	9	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,26:148:99:0|1:75737881_T_C:704,0,5018:75737881	1	0	9	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	548.1	208	chr3	75737947	.	CCT	C	548.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.567;DP=1609;ExcessHet=0.2348;FS=12.87;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.14;MQRankSum=-10.5;QD=2.1;ReadPosRankSum=2.75;SOR=1.486	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	8	0	2	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,41:214:99:0|1:75737994_T_C:1201,0,7060:75737994	1	0	9	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,38:209:99:0|1:75737994_T_C:1081,0,7066:75737994	2	0	8	0
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	709.64	205	chr3	75738071	.	A	G	709.64	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.6;DP=1813;ExcessHet=1.5895;FS=5.078;InbreedingCoeff=-0.2392;MLEAC=4;MLEAF=0.2;MQ=57.56;MQRankSum=-9.725;QD=0.92;ReadPosRankSum=-1.306;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,26:197:99:0|1:75737994_T_C:577,0,7102:75737994	6	0	4	0
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	499.56	201	chr3	75738074	.	G	A	499.56	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.07;DP=1768;ExcessHet=0.7463;FS=7.183;InbreedingCoeff=-0.174;MLEAC=3;MLEAF=0.15;MQ=57.65;MQRankSum=-9.299;QD=0.85;ReadPosRankSum=-1.531;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,23:191:99:0|1:75737994_T_C:460,0,6985:75737994	7	0	3	0
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	421.2	201	chr3	75738077	.	A	C	421.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.795;DP=1759;ExcessHet=0.2348;FS=5.489;InbreedingCoeff=-0.1102;MLEAC=2;MLEAF=0.1;MQ=57.68;MQRankSum=-8.896;QD=1.32;ReadPosRankSum=-1.698;SOR=1.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,22:188:99:0|1:75737994_T_C:424,0,6904:75737994	8	0	2	0
chr3	75738100	75738100	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1523G:p.E508G,ZNF717:NM_001290208:exon5:c.A1523G:p.E508G,ZNF717:NM_001290209:exon5:c.A1373G:p.E458G,ZNF717:NM_001324027:exon5:c.A1523G:p.E508G	.	348	1167	7	0	0	7	0.00299018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00108464547182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.222e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	-4.64	0.79316	D	0.093	0.07262	-0.9647	0.38270	T	0.018	0.07518	T	9	0.0837622	0.13969	T	0.001085	0.01263	T	0.056	0.15993	.	.	0.0297737177859	0.01360	0.0024874068709695107	0.00230	.	.	0.391209244728	0.23840	T	.	.	.	-0.207823	0.19686	T	-0.5363	0.18662	T	0.836542546749115	0.49048	D	0.0133987	0.00072	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.43721	B	.	.	1.912526	0.24293	16.34	0.99674252685792053	0.78782	0.00841	0.03370	N	AEFDBHCIJ	0.042616	0.06635	N	-0.890987982149614	0.11055	0.5315283	-0.985280104525926	0.10115	0.5074318	0.999965122713944	0.48965	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.9	-1.16	0.09181	-0.659000	0.05423	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4643:0.1624:0.0:0.3733	2.211	0.03707	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	70.43	201	chr3	75738100	.	T	C	70.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=1604;ExcessHet=0;FS=6.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.78;MQRankSum=-8.863;QD=0.42;ReadPosRankSum=-4.175;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,13:167:82:0|1:75737994_T_C:82,0,6427:75737994	9	0	1	0
chr3	75738346	75738346	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1277G:p.D426G,ZNF717:NM_001290208:exon5:c.A1277G:p.D426G,ZNF717:NM_001290209:exon5:c.A1127G:p.D376G,ZNF717:NM_001324027:exon5:c.A1277G:p.D426G	.	357	1164	1	0	0	1	0.000429369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00157043738241	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs879020387	0.0007	0.0007	0.0004	0.0010	0.0117	0.0007	0.0007	0.0111	0.0108	0	2.849e-05	0	5.744e-05	0	0.0002	2.81e-06	0.0008	0.0117	0.0004	0.0004	0.0002	0.0007	0.0132	0.0003	0.0003	0.0106	0.0097	0	0	0	0	0	0	0	0	0	0.0132	0.096	0.31088	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.19	0.07353	T	-0.93	0.24898	N	0.146	0.14763	-0.9695	0.37304	T	0.012	0.04653	T	9	0.0047684014	0.00101	T	0.00157	0.02497	T	0.079	0.23065	.	.	0.0297737177859	0.01360	0.0025789429370471208	0.00239	.	.	0.440825641155	0.30690	T	.	.	.	-0.241313	0.15182	T	-0.584406	0.14154	T	0.124967762573498	0.14909	T	0.339966	0.07337	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37198	B	.	.	0.693887	0.10624	7.327	0.94663330734589946	0.25280	0.00604	0.02691	N	AEFDBHCI	0.027213	0.02183	N	-0.978679924300545	0.09059	0.4272455	-1.15547001181155	0.06670	0.3218333	0.999960434078766	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.75	-1.43	0.08418	-1.023000	0.03718	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2216:0.0:0.4486:0.3298	3.653	0.07747	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1595.43	220	chr3	75738346	.	T	C	1595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=1792;ExcessHet=0;FS=2.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.37;MQRankSum=3.84;QD=8.22;ReadPosRankSum=-1.443;SOR=0.785	GT:AD:DP:GQ:PL	0/1:127,67:194:99:1607,0,3673	9	0	1	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:76,19:95:99:314,0,2177	2	0	8	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:35,40:75:99:806,0,882	1	0	9	0
chr3	86968848	86968848	T	G	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A679C:p.M227L,VGLL3:NM_001320494:exon3:c.A520C:p.M174L,VGLL3:NM_016206:exon3:c.A679C:p.M227L	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00561380086891	0.0027	0.000199681	0.0032	0.0003	0.0008	0	0.0086	0.0046	0.0033	0.0001	0.0029172	451	154602	rs193078775	0.0030	0.0030	0.0030	0.0030	0.0034	0.0029	0.0029	0.0033	0.0033	0.0003	0.0008	0.0002	0	0.0072	0.0003	0.0034	0.0026	0.0002	0.0029	0.0029	0.0029	0.0029	0.0046	0.0026	0.0026	0.0042	0.0040	0.0003	0	0.0016	0	0	0.0075	0	0.0046	0.0028	0.0002	0.991	0.01979	T	0.763	0.04587	T	0.0	0.02946	B	0.0	0.01387	B	0.002537	0.36389	N	0.272209	0.947882	0.26586	N	1.25	0.31749	L	1.03	0.40749	T	-0.65	0.18877	N	0.34	0.38129	-1.0498	0.14453	T	0.061	0.25383	T	10	0.00762257	0.00173	T	0.005614	0.14500	T	0.067	0.19503	0.316	0.29258	0.0666544352282	0.05500	0.14849506141784974	0.14771	0.111437477428	0.12582	0.509638547897	0.40171	T	0.026249	0.19463	T	-0.534016	0.00364	T	-0.53232	0.19055	T	0.00207298978474477	0.00021	T	0.717028	0.32946	T	0.118414186	0.27899	0.058118593	0.10685	0.118414186	0.27899	0.058118593	0.10684	-2.084	0.03516	T	.	.	0.079	0.10691	B	.;.	.;.	0.716028	0.10848	7.527	0.72023615747022662	0.09829	0.78950	0.39033	D	AEFDGBI	0.156390	0.28174	N	-0.617299083432224	0.18425	0.9564431	-0.511636883575809	0.21837	1.183219	0.999999308230212	0.74766	0.833774	0.99917	0	0.573888	0.26702	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.81	-3.14	0.04928	-0.136000	0.10384	-0.371000	0.09606	0.644000	0.52426	0.965000	0.33920	0.153000	0.23196	0.997000	0.79791	0.0:0.0603:0.5472:0.3925	11.713	0.50898	606	0.67383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1122.43	35	chr3	86968848	.	T	G	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.642;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.43;SOR=0.634	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L,VGLL3:NM_001320494:exon3:c.A419T:p.H140L,VGLL3:NM_016206:exon3:c.A578T:p.H193L	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.010101	0.008152	0.020468	0.050000	0.000000	0.021341	0.015152	0.05	1315.43	35	chr3	86968949	.	T	A	1315.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.46;ReadPosRankSum=2.19;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr3	88135074	88135074	A	G	exonic	ZNF654	.	nonsynonymous SNV	ZNF654:NM_001350135:exon5:c.A568G:p.I190V,ZNF654:NM_001366096:exon5:c.A271G:p.I91V,ZNF654:NM_001350136:exon6:c.A271G:p.I91V,ZNF654:NM_001350137:exon6:c.A85G:p.I29V,ZNF654:NM_001366093:exon6:c.A271G:p.I91V,ZNF654:NM_001366095:exon6:c.A271G:p.I91V,ZNF654:NM_001366097:exon6:c.A85G:p.I29V,ZNF654:NM_001350134:exon7:c.A907G:p.I303V	.	457	1061	4	0	0	4	0.00188147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.00299866853179	.	0.00179712	0.0052	0.0045	0	0	0	0.0050	0	0.0064	0.0008344	129	154602	rs77487622	0.0048	0.0046	0.0049	0.0047	0.0055	0.0047	0.0047	0.0054	0.0053	0.0005	0.0019	0.0015	0	0.0034	0.0009	0.0055	0.0034	0.0021	0.0029	0.0029	0.0032	0.0026	0.0049	0.0027	0.0026	0.0045	0.0043	0.0009	0	0.0018	0.0006	0.0002	0.0025	0	0.0049	0.0033	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.4679	0.69798	T	0.271	0.64235	T	5	0.010813773	0.00239	T	0.002999	0.06427	T	.	.	.	.	.	.	0.1640201676248874	0.16322	.	.	.	.	.	0.019973	0.15809	T	.	.	.	.	.	.	.	.	.	0.89621	0.63821	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.23113	B	.	.	2.986694	0.39860	21.0	0.99867493975893795	0.94547	0.97263	0.73660	D	AEFGBI	0.505313	0.53652	D	0.217787367273531	0.52060	3.382803	0.28282450660899	0.54535	3.618344	0.999984875925178	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	5.86	4.69	0.58546	3.093000	0.49912	9.300000	0.79866	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8628:0.1371:0.0:0.0	12.702	0.56407	264	0.89640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1452.43	33	chr3	88135074	.	A	G	1452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.384;DP=474;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.542;SOR=0.613	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	9	0	1	0
chr3	93900833	93900833	C	T	exonic	PROS1	.	nonsynonymous SNV	PROS1:NM_000313:exon7:c.G698A:p.R233K,PROS1:NM_001314077:exon8:c.G794A:p.R265K	Thrombophilia due to protein S deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein S deficiency, autosomal recessive, Autosomal recessive	79	1375	60	8	0	76	0.0268931	.	.	.	171093	Finnish_congenital_nephrotic_syndrome|Thrombophilia_due_to_protein_S_deficiency,_autosomal_recessive|Retinal_dystrophy|Thrombophilia_due_to_protein_S_deficiency,_autosomal_dominant|Protein_S_deficiency_disease|PROS1-related_disorder	MONDO:MONDO:0009732,MedGen:C0403399,OMIM:256300,Orphanet:839|MONDO:MONDO:0013791,MedGen:C3281092,OMIM:614514,Orphanet:743|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012868,MedGen:C3278211,OMIM:612336,Orphanet:26349,Orphanet:743|MONDO:MONDO:0002304,MeSH:D018455,MedGen:C0242666|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.502	.	0.0020	0.00698882	0.0074	0.0006	0.0032	0	0.0024	0.0037	0.0099	0.0351	0.0066105	1022	154602	rs41267007	0.0055	0.0055	0.0047	0.0064	0.0338	0.0054	0.0054	0.0328	0.0324	0.0004	0.0025	0.0016	5.039e-05	0.0023	0.0184	0.0040	0.0056	0.0338	0.0031	0.0031	0.0026	0.0035	0.0366	0.0028	0.0027	0.0322	0.0305	0.0006	0	0.0014	0.0003	0	0.0022	0	0.0032	0.0014	0.0366	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.480529	0.12171	N	0.758803	0.999972	0.18612	N	0.58	0.15352	N	-2.22	0.87038	D	0.13	0.05503	N	0.094	0.07398	-0.8327	0.53127	T	0.221	0.58434	T	10	0.0106553435	0.00236	T	.	.	.	0.502	0.78475	.	.	0.679094201566	0.67636	0.3702398663570681	0.36937	0.232416631394	0.25783	0.252426564693	0.04027	T	0.512652	0.82801	D	-0.266576	0.12141	T	-0.13132	0.60861	T	0.00268860779094126	0.00028	T	0.672333	0.34027	T	0.22805142	0.45518	0.050635796	0.07989	0.23177832	0.45955	0.044609684	0.05819	-3.187	0.12322	T	0.09818819590687654	0.06992	0.084	0.11172	B	.;.;.;.;.;.	.;.;.;.;.;.	0.873033	0.12461	8.992	0.72373484607788618	0.09951	0.09182	0.14989	N	AEFI	0.180271	0.30757	N	-0.987964775886933	0.08860	0.4170622	-0.855430635375312	0.13157	0.6810129	1.10828034484068E-5	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.08	-0.333	0.12042	-0.162000	0.10000	0.805000	0.21696	0.434000	0.20985	0.157000	0.23755	0.999000	0.35428	0.703000	0.34233	0.1717:0.3795:0.2108:0.238	1.258	0.01874	609	0.67094	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013990	0.000000	0.012228	0.006849	0.000000	0.017241	0.006135	0.034091	0.05	2131.43	35	chr3	93900833	.	C	T	2131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.8;DP=492;ExcessHet=0;FS=0.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.43;MQRankSum=0.868;QD=11.97;ReadPosRankSum=-1.719;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1338	9	0	1	0
chr3	97872684	97872684	A	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.A1490G:p.Q497R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000599042	0.0003	0	0	0	0	0.0008	0	0.0001	0.0003622	56	154602	rs186224760	0.0027	0.0026	0.0028	0.0027	0.0029	0.0027	0.0026	0.0028	0.0028	0.0004	0.0011	0	0	0.0141	0.0002	0.0029	0.0019	0.0001	0.0025	0.0025	0.0020	0.0031	0.0026	0.0023	0.0023	0.0022	0.0021	0.0004	0.0055	0.0007	0	0	0.0166	0	0.0026	0.0028	0	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.13769	-1.0258	0.21821	T	0.054	0.22921	T	7	0.0047653317	0.00101	T	.	.	.	.	.	.	.	0.284539287134	0.28064	0.028066401063806905	0.02756	.	.	0.28538146615	0.08253	T	0.008229	0.07566	T	-0.547487	0.00302	T	-0.560993	0.16285	T	0.00749207485993609	0.00087	T	0.517048	0.16713	T	0.051096674	0.09334	0.12485802	0.30090	0.051096674	0.09334	0.12485802	0.30089	-4.252	0.27499	T	.	.	0.120	0.24901	B	.	.	2.215550	0.28270	17.74	0.99236417602391336	0.56405	0.43311	0.27070	N	AEFGBHCIJ	0.066597	0.13049	N	-0.571307608444905	0.19820	1.040346	-0.488578613780115	0.22467	1.220466	0.999992228857392	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.678554	0.66404	0	.	.	5.85	2.02	0.25641	1.513000	0.35430	1.196000	0.24801	0.756000	0.94297	0.370000	0.25924	0.536000	0.25389	0.855000	0.40485	0.6754:0.0:0.168:0.1567	3.846	0.08445	797	0.45241	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1965.43	33	chr3	97872684	.	A	G	1965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.078;DP=620;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.644;SOR=0.85	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	9	0	1	0
chr3	97875833	97875833	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G4639A:p.G1547R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.264e-07	6.841e-07	0	1.962e-06	.	0	0	.	.	0	0	0	0	0	0	0	2.29e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.25867	.	.	.	.	.	.	.	0.24103412	0.41274	T	.	.	.	.	.	.	.	0.556224665151	0.55282	0.007123398080973297	0.00679	.	.	.	.	.	0.006991	0.06413	T	0.100323	0.64328	D	-0.0936691	0.63884	T	.	.	.	0.657134	0.26688	T	0.13836901	0.32004	0.3921231	0.63965	0.13836901	0.32004	0.3921231	0.63965	-5.886	0.45316	T	.	.	0.205	0.43046	B	.	.	3.263861	0.44646	22.0	0.50158888951905944	0.04335	0.07979	0.13961	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0772698515536432	0.15753	0.162113	0.03585	0	0.195528	0.04277	0	0.183335	0.04453	0	0.24566	0.04862	0	0.825518	0.49387	5.26	4.35	0.51454	2.665000	0.46456	6.415000	0.55603	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.180000	0.21296	0.0:0.1744:0.8256:0.0	11.896	0.51937	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1401.43	149	chr3	97875833	.	G	A	1401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.584;DP=1164;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.609;SOR=0.813	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	9	0	1	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	40.37	40	chr3	97876679	.	G	A	40.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-4.093;DP=1061;ExcessHet=0.2348;FS=133.571;InbreedingCoeff=-0.1404;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.14;ReadPosRankSum=1.15;SOR=8.955	GT:AD:DP:GQ:PL	0/1:112,30:142:14:14,0,2443	7	0	2	1
chr3	97959130	97959130	G	A	exonic	RIOX2	.	nonsynonymous SNV	RIOX2:NM_001042533:exon4:c.C602T:p.P201L,RIOX2:NM_001261829:exon4:c.C602T:p.P201L,RIOX2:NM_032778:exon4:c.C602T:p.P201L,RIOX2:NM_153182:exon4:c.C602T:p.P201L	.	424	1076	20	2	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.480	0.0600294035795	0.0054	0.00279553	0.0057	0.0011	0.0086	0	0.0044	0.0077	0.0088	0.0018	0.0056791	878	154602	rs56183666	0.0069	0.0069	0.0070	0.0067	0.0102	0.0067	0.0067	0.0081	0.0075	0.0009	0.0080	0.0111	0	0.0037	0.0102	0.0077	0.0073	0.0012	0.0052	0.0052	0.0055	0.0050	0.0078	0.0049	0.0048	0.0073	0.0071	0.0011	0	0.0077	0.0101	0.0002	0.0041	0.0102	0.0078	0.0080	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.03	0.20959	T	-9.16	0.98474	D	0.911	0.91276	-0.5538	0.66642	T	0.172	0.51405	T	10	0.0103621185	0.00231	T	0.060029	0.67865	D	0.480	0.77077	.	.	0.677007972574	0.67426	0.8165847900631961	0.81614	0.419956848209	0.42533	0.541483700275	0.44656	T	0.194756	0.55062	T	-0.162868	0.26320	T	-0.000610659	0.70296	D	0.179403686056173	0.19197	T	0.957304	0.94010	D	0.9434746	0.95602	0.93115646	0.97174	0.9434746	0.95602	0.93115646	0.97174	-13.665	0.92184	D	.	.	0.565	0.68098	P	.;.;.;.	.;.;.;.	5.286213	0.88757	29.7	0.99909547267073862	0.97949	0.98958	0.89172	D	AEFDBI	0.862216	0.78045	D	1.01259695378206	0.96120	14.32271	0.944203309665823	0.97226	15.78445	0.999999999999989	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	9.090000	0.93496	11.650000	0.93875	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	19.845	0.96701	798	0.45050	JmjC domain|JmjC domain;JmjC domain|JmjC domain;.;JmjC domain|JmjC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.004076	0.002941	0.000000	0.000000	0.000000	0.007576	0.05	714.43	41	chr3	97959130	.	G	A	714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.555;DP=381;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.24;SOR=0.496	GT:AD:DP:GQ:PL	0/1:28,29:57:99:726,0,678	9	0	1	0
chr3	98025612	98025612	G	T	exonic	GABRR3	.	nonsynonymous SNV	GABRR3:NM_001105580:exon3:c.C193A:p.L65I	.	435	1073	13	1	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4e-05	0.00119808	0.0010	0.0001	0.0002	0	0	3.038e-05	0.0011	0.0071	0.0008279	128	154602	rs373571752	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0005	0.0070	0.0068	0	6.722e-05	0	2.522e-05	0	0.0026	4.409e-05	0.0004	0.0075	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	6.545e-05	0	0	0	0	4.411e-05	0	0.0083	.	.	.	0.066	0.44501	T	0.994	0.66517	D	0.96	0.70309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.42050	.	.	.	.	.	.	.	0.008395404	0.00190	T	.	.	.	.	.	.	.	0.380564188046	0.37663	0.3712657671114812	0.37040	.	.	.	.	.	0.029975	0.21354	T	-0.436084	0.01364	T	-0.396152	0.33832	T	.	.	.	0.926807	0.73035	D	0.040386066	0.05755	0.10034804	0.23989	0.040386066	0.05754	0.10034804	0.23988	-5.38	0.40726	T	.	.	0.160	0.35352	B	.;.	.;.	3.592328	0.50700	23.0	0.99037997461322957	0.50962	0.90578	0.51870	D	AEFBHCI	0.325211	0.42686	N	.	.	.	.	.	.	0.459144162129251	0.20609	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	3.04	0.34171	3.155000	0.50398	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.382000	0.26379	0.1782:0.0:0.8218:0.0	9.468	0.37989	772	0.48957	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	938.43	41	chr3	98025612	.	G	T	938.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.681;DP=401;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.803;SOR=0.578	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1106	9	0	1	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2132.41	109	chr3	98133456	.	ACCCC	A	2132.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.678;DP=871;ExcessHet=0.7463;FS=369.503;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=1.63;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	7	0	3	0
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2124.47	85	chr3	98133460	.	C	CGGGG	2124.47	.	AC=3;AF=0.5;AN=6;DP=740;ExcessHet=0.7463;FS=363.85;InbreedingCoeff=-0.4815;MLEAC=5;MLEAF=0.833;MQ=60;MQRankSum=0;QD=6.64;ReadPosRankSum=2.58;SOR=9.149	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:56,0:56:0:.:.:0,0,735:.	0	0	3	7
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	771.43	44	chr3	98133463	.	C	G	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.71;DP=587;ExcessHet=0;FS=120.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=3.79;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:99:.:.:0,102,1530:.	9	0	1	0
chr3	98168989	98168989	G	A	exonic	OR5H15	.	nonsynonymous SNV	OR5H15:NM_001005515:exon1:c.G290A:p.C97Y	.	438	1068	15	1	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.00203728123573	0.0015	0.00159744	0.0018	0.0005	0.0022	0	0.0054	0.0016	0.0044	0.0022	0.0016753	259	154602	rs146412623	0.0015	0.0015	0.0014	0.0016	0.0102	0.0014	0.0014	0.0081	0.0074	0.0004	0.0023	0.0003	0	0.0052	0.0102	0.0012	0.0021	0.0027	0.0018	0.0018	0.0016	0.0020	0.0025	0.0016	0.0015	0.0019	0.0016	0.0004	0	0.0025	0.0003	0	0.0073	0.0306	0.0017	0.0033	0.0017	.	.	.	.	.	.	1.0	0.90584	D	0.968	0.71741	D	0.000086	0.51296	D	0.000000	0.978844	0.39502	D	3.435	0.92070	M	.	.	.	.	.	.	.	.	-1.0739	0.08577	T	0.007	0.02282	T	10	0.00743711	0.00169	T	0.002037	0.03721	T	.	.	.	.	.	.	0.5112189725855335	0.51043	.	.	0.348762512207	0.17740	T	0.050508	0.28615	T	-0.287144	0.09924	T	-0.190477	0.55545	T	0.162136094477717	0.18027	T	0.877312	0.59062	D	0.89836097	0.91237	0.8071803	0.88721	0.89836097	0.91238	0.8071803	0.88722	-6.894	0.53255	T	.	.	0.367	0.64220	A	.;.	.;.	4.252225	0.64550	24.7	0.94040469554183237	0.24161	0.95905	0.66661	D	AEFI	0.460099	0.51042	N	0.436700168308952	0.63454	4.579256	0.188673312510679	0.49226	3.128339	0.351365062447014	0.19686	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	7.191000	0.77294	.	.	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:1.0:0.0	10.707	0.45155	768	0.49510	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011327	0.016129	0.013587	0.024590	0.050000	0.017241	0.000000	0.000000	0.05	4198.43	317	chr3	98168989	.	G	A	4198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.234;DP=1321;ExcessHet=0;FS=3.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.07;MQRankSum=-1.432;QD=13.24;ReadPosRankSum=-0.169;SOR=0.542	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	9	0	1	0
chr3	98283014	98283014	A	G	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.A127G:p.T43A	.	419	1042	58	3	0	64	0.0297952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0065	0.00539137	0.0065	0.0017	0.0061	0.0001	0.0008	0.0094	0.0099	0.0037	0.0063518	982	154602	rs138288586	0.0078	0.0078	0.0076	0.0080	0.0499	0.0077	0.0076	0.0452	0.0434	0.0020	0.0086	0.0137	7.56e-05	0.0012	0.0499	0.0083	0.0099	0.0047	0.0065	0.0065	0.0068	0.0062	0.0109	0.0062	0.0060	0.0095	0.0090	0.0021	0.0033	0.0109	0.0130	0.0004	0.0010	0.0442	0.0087	0.0175	0.0060	0.005	0.63226	D	0.016	0.60972	D	1.0	0.90584	D	0.998	0.88582	D	0.000995	0.40743	U	0.000000	1	0.08975	N	1.3	0.32576	L	6.94	0.01376	T	-4.77	0.80851	D	0.348	0.38950	-0.9212	0.45390	T	0.003	0.00864	T	10	0.004910052	0.00105	T	.	.	.	0.085	0.24743	.	.	0.483082108137	0.47938	0.1894909077158087	0.18867	0.128535529483	0.14494	0.273199915886	0.06563	T	0.010184	0.09221	T	-0.537174	0.00348	T	-0.531416	0.19145	T	0.0974352649828437	0.12072	T	0.665633	0.27494	T	0.677092	0.76812	0.5844975	0.75907	0.677092	0.76814	0.5844975	0.75908	-6.724	0.51991	T	.	.	0.144	0.31832	B	.;.	.;.	3.611633	0.51069	23.0	0.98460605800049295	0.41734	0.17022	0.19654	N	AEFDGI	0.077694	0.15659	N	-0.0972181323188493	0.37514	2.183617	-0.331202449396319	0.27097	1.501209	0.00147991741085891	0.08567	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.2	3.2	0.35826	5.548000	0.66963	.	.	0.665000	0.62972	0.908000	0.31627	0.670000	0.26062	0.013000	0.09966	1.0:0.0:0.0:0.0	9.723	0.39484	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.053877	0.045455	0.063859	0.058480	0.100000	0.086207	0.033537	0.015152	0.05	2548.43	141	chr3	98283014	.	A	G	2548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.318;DP=755;ExcessHet=0;FS=3.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.188;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1243	9	0	1	0
chr3	98283683	98283683	C	T	exonic	OR5H2	.	nonsynonymous SNV	OR5H2:NM_001005482:exon1:c.C796T:p.R266C	.	436	1066	18	2	0	22	0.0102136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0066	0.00379393	0.0063	0.0011	0.0067	0	0.0044	0.0077	0.0155	0.0072	0.0063389	980	154602	rs17787561	0.0073	0.0073	0.0072	0.0074	0.0113	0.0072	0.0072	0.0091	0.0083	0.0013	0.0078	0.0082	0	0.0069	0.0113	0.0077	0.0075	0.0074	0.0059	0.0059	0.0058	0.0060	0.0097	0.0056	0.0054	0.0084	0.0080	0.0015	0.0011	0.0097	0.0107	0.0002	0.0049	0.0136	0.0079	0.0114	0.0056	0.067	0.35918	T	0.053	0.47336	T	0.059	0.23051	B	0.024	0.20255	B	0.159738	0.17701	U	0.410613	1	0.08975	N	2.42	0.70002	M	1.29	0.35775	T	-3.22	0.64939	D	0.067	0.03956	-1.0152	0.25272	T	0.055	0.23186	T	10	0.008219928	0.00187	T	.	.	.	0.033	0.08068	.	.	0.366277470483	0.36239	0.10926526766360327	0.10855	0.0203041429472	0.01996	0.2047714293	0.00609	T	0.006162	0.05598	T	-0.589192	0.00170	T	-0.607433	0.12195	T	0.00985053846370298	0.00130	T	0.455554	0.13039	T	0.14295922	0.32877	0.11448131	0.27634	0.14295922	0.32877	0.11448131	0.27633	-7.856	0.60085	D	.	.	0.118	0.30713	B	.;.	.;.	1.805741	0.22947	15.83	0.75477644448646841	0.11090	0.02887	0.07671	N	AEFI	0.049293	0.08500	N	-1.11984821568533	0.06291	0.2891762	-1.25655528946903	0.05034	0.2389404	1.39399034786534E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.03	-1.07	0.09459	-0.032000	0.12217	.	.	-2.099000	0.00395	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1797:0.3604:0.0:0.4599	3.522	0.07302	756	0.51065	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.025253	0.010870	0.005848	0.000000	0.017241	0.006098	0.007576	0.05	1617.43	112	chr3	98283683	.	C	T	1617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.611;DP=590;ExcessHet=0;FS=0.655;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.203;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1243	9	0	1	0
chr3	98354008	98354008	A	C	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.A155C:p.E52A	.	429	1084	8	1	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00140944196157	0.0005	0.000599042	0.0009	0.0002	0.0010	0	0	0.0013	0	0.0002	0.0008085	125	154602	rs78965394	0.0006	0.0006	0.0005	0.0006	0.0104	0.0005	0.0005	0.0083	0.0075	0.0002	0.0011	0.0035	0	0	0.0104	0.0005	0.0012	0.0002	0.0007	0.0008	0.0007	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0.0029	0	0	0.0068	0.0007	0.0033	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.403	0.34918	B	0.371	0.43568	B	0.005811	0.32491	U	0.000000	0.999999	0.08975	N	1.36	0.34107	L	5.31	0.01086	T	-4.45	0.77717	D	0.265	0.30004	-1.0006	0.29746	T	0.007	0.02598	T	10	0.00875169	0.00198	T	0.001409	0.02088	T	0.131	0.35738	.	.	0.197625483188	0.19356	0.26452313262500454	0.26365	0.0122577980049	0.01168	0.243384540081	0.03103	T	0.010821	0.09727	T	-0.45709	0.01025	T	-0.496831	0.22677	T	0.0866761713187232	0.10819	T	0.445455	0.12454	T	0.3980649	0.60598	0.36761248	0.62067	0.3980649	0.60599	0.36761248	0.62067	-6.311	0.48809	T	.	.	0.402	0.59694	A	.	.	2.566532	0.33247	19.28	0.99068172431392332	0.51645	0.32527	0.24607	N	AEFI	0.158955	0.28468	N	-0.300306574426165	0.29137	1.613155	-0.372714881764971	0.25814	1.421915	0.698546500615225	0.22669	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	2.440000	0.44513	.	.	0.681000	0.82415	0.007000	0.17678	0.987000	0.30940	0.001000	0.02609	1.0:0.0:0.0:0.0	12.544	0.55536	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.010101	0.021739	0.008772	0.000000	0.034483	0.006098	0.003788	0.05	2597.43	34	chr3	98354008	.	A	C	2597.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.929;DP=574;ExcessHet=0;FS=2.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.203;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	9	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	146.44	142	chr3	99790960	.	T	C	146.44	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.024;DP=1076;ExcessHet=0.2348;FS=125.682;InbreedingCoeff=-0.2316;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.85;SOR=7.808	GT:AD:DP:GQ:PL	0/0:104,0:104:29:0,29,1995	4	0	2	4
chr3	100166377	100166377	C	T	exonic	CMSS1	.	nonsynonymous SNV	CMSS1:NM_001167924:exon5:c.C344T:p.S115F,CMSS1:NM_032359:exon5:c.C398T:p.S133F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.408	0.0544932559133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.033	0.53072	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.051873	1	0.81001	D	2.265	0.64440	M	1.52	0.30669	T	-4.31	0.76576	D	0.698	0.71942	-0.8406	0.52607	T	0.198	0.55286	T	9	0.80531895	0.79879	D	0.054493	0.65878	D	0.408	0.72022	0.671	0.80903	0.749366424934	0.74710	0.6406780989571664	0.64002	0.196713787658	0.22038	0.661002039909	0.61553	T	0.139928	0.48854	T	0.25078	0.78674	D	0.122452	0.78397	D	0.995071709156036	0.86786	D	0.953605	0.82243	D	0.9362004	0.94861	0.8940613	0.94554	0.9362004	0.94861	0.8940613	0.94555	-11.086	0.80128	D	.	.	0.657	0.71221	P	.;.;.	.;.;.	5.208925	0.87404	29.2	0.99827948561704316	0.91026	0.96812	0.71072	D	AEFDGIJ	0.774341	0.70808	D	0.769268469231454	0.84153	8.209028	0.75987147129781	0.86892	9.037498	0.999999752633225	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.6	5.6	0.84997	6.018000	0.70464	7.570000	0.60688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.174	0.89688	504	0.75712	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	773.43	34	chr3	100166377	.	C	T	773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.594;DP=380;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=2.01;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,985	9	0	1	0
chr3	100167803	100167803	A	G	exonic	CMSS1	.	nonsynonymous SNV	CMSS1:NM_001167924:exon6:c.A427G:p.I143V,CMSS1:NM_032359:exon6:c.A481G:p.I161V	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00368959008831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	4.788e-06	2.724e-06	4.127e-06	0.0003	1e-06	7.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.995e-07	3.315e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03158	T	1.0	0.02759	T	0.003	0.11197	B	0.007	0.12992	B	0.000357	0.45440	N	0.235139	0.960	0.26183	N	-0.19	0.04217	N	1.75	0.26152	T	0.1	0.06612	N	0.143	0.15609	-1.0162	0.24948	T	0.028	0.11971	T	9	0.07511917	0.11569	T	0.00369	0.08527	T	0.043	0.11576	0.479	0.55823	0.166414681773	0.16258	0.36351041625898667	0.36265	0.0220085759973	0.02206	0.347014456987	0.17481	T	0.007645	0.07409	T	-0.252997	0.13733	T	-0.601189	0.12712	T	0.715753138065338	0.41485	D	0.780422	0.43505	T	0.015987296	0.00169	0.027206045	0.00857	0.015987296	0.00169	0.027206045	0.00857	-3.71	0.21178	T	.	.	0.069	0.06159	B	.;.;.	.;.;.	-0.185819	0.03164	0.515	0.44151591807023882	0.03374	0.16447	0.19393	N	AEFBI	0.070388	0.13970	N	-0.836517581861095	0.12384	0.6033347	-0.720758273349777	0.16444	0.8699359	0.0763593701102711	0.15725	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	-0.935	0.09893	0.068000	0.14398	-0.060000	0.12436	-0.566000	0.04804	0.245000	0.24799	0.000000	0.08366	0.918000	0.45347	0.481:0.1427:0.3762:0.0	6.289	0.20257	504	0.75712	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	643.43	73	chr3	100167803	.	A	G	643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.846;DP=382;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.865;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	9	0	1	0
chr3	100290685	100290685	C	T	exonic	TBC1D23	.	nonsynonymous SNV	TBC1D23:NM_001199198:exon5:c.C584T:p.S195F,TBC1D23:NM_018309:exon5:c.C584T:p.S195F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0167937683232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.23905	T	0.287	0.21210	T	0.859	0.48618	P	0.332	0.46509	B	0.000031	0.55875	D	0.193206	1	0.81001	D	2.28	0.64929	M	2.82	0.10871	T	-1.84	0.43149	N	0.889	0.88909	-1.1846	0.00306	T	0.041	0.17446	T	9	0.68793106	0.71676	D	0.016794	0.38210	T	0.202	0.48754	0.372	0.38340	0.444305618086	0.44052	0.5312116502510886	0.53045	0.287450904415	0.31146	0.812330424786	0.83848	D	0.06164	0.31707	T	0.140226	0.68347	D	-0.0363511	0.67945	D	0.782633006572723	0.45216	D	0.971303	0.90539	D	0.17212999	0.37886	0.13338578	0.31985	0.17212999	0.37885	0.13338578	0.31984	-9.54	0.71107	D	.	.	0.141	0.34949	B	.;.;.	.;.;.	4.503307	0.70449	25.5	0.99781693020277962	0.86867	0.97454	0.74853	D	AEFBHI	0.633106	0.61347	D	0.551340984464265	0.70165	5.46147	0.625396666794186	0.76788	6.556263	0.99999906435302	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.967000	0.70114	7.684000	0.65448	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9295:0.0:0.0705	13.631	0.61667	498	0.76166	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	640.43	33	chr3	100290685	.	C	T	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.84;DP=368;ExcessHet=0;FS=4.003;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.103;SOR=0.277	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1110	9	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,18:43:99:.:.:138,0,369:.	1	0	9	0
chr3	100823462	100823464	TGT	-	exonic	ABI3BP	.	nonframeshift deletion	ABI3BP:NM_001377332:exon28:c.2173_2175del:p.T725del,ABI3BP:NM_001349330:exon31:c.2374_2376del:p.T792del,ABI3BP:NM_001365643:exon33:c.2536_2538del:p.T846del,ABI3BP:NM_001349329:exon34:c.2584_2586del:p.T862del,ABI3BP:NM_001375550:exon36:c.2755_2757del:p.T919del,ABI3BP:NM_001375547:exon37:c.2797_2799del:p.T933del,ABI3BP:NM_001375549:exon37:c.2797_2799del:p.T933del	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0	0	0	0	0.0003	0	0.0025	0.0001153	3	26028	rs753626741	0.0006	0.0006	0.0006	0.0007	0.0018	0.0006	0.0006	0.0015	0.0014	0.0003	2.82e-05	0	5.607e-05	2.953e-05	0.0005	0.0006	0.0005	0.0018	0.0003	0.0003	0.0004	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	4.811e-05	0.0022	0.0001	0	0	0	0	0.0005	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1671.39	34	chr3	100823461	.	ATGT	A	1671.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.821;DP=390;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.66;ReadPosRankSum=-0.656;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	9	0	1	0
chr3	101726726	101726726	G	A	exonic	CEP97	.	nonsynonymous SNV	CEP97:NM_001303401:exon2:c.G176A:p.R59Q,CEP97:NM_024548:exon2:c.G176A:p.R59Q	.	443	1058	20	1	0	22	0.01029	.	.	.	697731	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.011	.	0.0062	0.00359425	0.0049	0.0018	0.0032	0	0.0021	0.0070	0.0068	0.0032	0.0049029	758	154602	rs111912421	0.0055	0.0055	0.0054	0.0055	0.0149	0.0054	0.0053	0.0123	0.0113	0.0009	0.0047	0.0101	0	0.0023	0.0149	0.0059	0.0055	0.0038	0.0043	0.0043	0.0045	0.0040	0.0061	0.0040	0.0039	0.0057	0.0055	0.0012	0	0.0055	0.0092	0	0.0018	0.0170	0.0061	0.0099	0.0041	0.488	0.08042	T	0.399	0.17217	T	0.0	0.22331	B	0.001	0.11217	B	0.086353	0.20592	N	0.522230	0.999948	0.19238	N	0.26	0.09897	N	1.85	0.24472	T	-0.43	0.15782	N	0.169	0.19190	-1.0270	0.21429	T	0.020	0.08220	T	10	0.0071690083	0.00163	T	.	.	.	0.011	0.01250	.	.	0.126345400529	0.12197	0.15193629144885137	0.15115	0.154575907448	0.17459	0.223914563656	0.01548	T	0.025059	0.18811	T	-0.608585	0.00129	T	-0.641839	0.09536	T	0.00445689653772084	0.00048	T	0.712229	0.32360	T	0.028845077	0.02286	0.029281542	0.01249	0.023598185	0.01112	0.029281542	0.01249	-8.115	0.61852	D	0.14944447779688108	0.17476	0.059	0.02927	B	.;.	.;.	1.445491	0.18657	13.86	0.96849303875392245	0.31335	0.40495	0.26449	N	AEFGBI	0.054901	0.10023	N	-0.747383033918041	0.14705	0.7347482	-0.603242862989842	0.19408	1.041218	0.999128319930685	0.38507	0.651	0.46895	0	0.685571	0.66316	0	0.65145	0.50148	0	0.563494	0.21769	0	.	.	4.82	1.21	0.20240	0.393000	0.20543	-0.639000	0.08086	-0.113000	0.14837	0.855000	0.30528	0.000000	0.08366	0.976000	0.56436	0.5956:0.0:0.4044:0.0	8.439	0.31967	788	0.46569	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009596	0.000000	0.013587	0.005848	0.000000	0.017241	0.012270	0.007576	0.05	582.43	35	chr3	101726726	.	G	A	582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=348;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.27;SOR=0.382	GT:AD:DP:GQ:PL	0/1:16,24:40:99:594,0,369	9	0	1	0
chr3	105367424	105367424	G	T	exonic	ALCAM	.	nonsynonymous SNV	ALCAM:NM_001243280:exon1:c.G16T:p.A6S,ALCAM:NM_001243281:exon1:c.G16T:p.A6S,ALCAM:NM_001243283:exon1:c.G16T:p.A6S,ALCAM:NM_001627:exon1:c.G16T:p.A6S	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00854319541062	.	0.000599042	0.0003	0	0	0	0	9.055e-05	0.0011	0.0016	0.0002393	37	154602	rs538863911	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0014	0.0014	0	4.473e-05	0	0	0	0.0005	5.306e-05	0.0002	0.0017	7.223e-05	7.218e-05	5.14e-05	9.401e-05	0.0010	3.969e-05	3.125e-05	0.0004	0.0003	2.405e-05	0	0	0	0	0	0	7.351e-05	0	0.0010	0.794	0.04094	T	0.608	0.07741	T	0.0	0.02946	B	0.0	0.01387	B	0.909125	0.07404	N	1.037760	1	0.08975	N	-0.69	0.01958	N	0.56	0.54540	T	-0.2	0.10136	N	0.07	0.12627	-1.0301	0.20422	T	0.051	0.21572	T	10	0.006917864	0.00157	T	0.008543	0.22581	T	0.057	0.16321	0.397	0.42426	0.309278343525	0.30543	0.46821152242834674	0.46740	0.184106303703	0.20704	0.324650466442	0.14125	T	0.074996	0.35073	T	-0.534052	0.00364	T	-0.547169	0.17599	T	0.0108904203762694	0.00156	T	0.588541	0.21576	T	0.09024294	0.21109	0.03849031	0.03728	0.09024294	0.21109	0.03849031	0.03728	-2.387	0.05053	T	.	.	0.080	0.08705	B	.;.	.;.	0.613009	0.09813	6.579	0.64893047475216181	0.07620	0.01937	0.05900	N	AEFDGBHCI	0.049525	0.08566	N	-1.1488252207028	0.05799	0.2653136	-1.08297919488875	0.08035	0.3933534	0.999999967232567	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	5.02	0.317	0.15106	0.268000	0.18336	0.960000	0.22984	0.676000	0.76740	0.601000	0.27755	1.000000	0.68203	0.019000	0.11356	0.1814:0.0:0.3838:0.4348	4.117	0.09555	897	0.25382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	343.43	50	chr3	105367424	.	G	T	343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=373;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=-0.011;SOR=0.463	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,957	9	0	1	0
chr3	107378225	107378225	T	C	exonic	CCDC54	.	nonsynonymous SNV	CCDC54:NM_032600:exon1:c.T638C:p.I213T	.	420	1081	21	0	0	21	0.00961979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0058	0.00559105	0.0074	0.0024	0.0058	0	0.0006	0.0095	0.0044	0.0099	0.0074191	1147	154602	rs34158098	0.0084	0.0084	0.0082	0.0085	0.0196	0.0082	0.0082	0.0167	0.0156	0.0019	0.0085	0.0086	0	0.0011	0.0196	0.0091	0.0083	0.0086	0.0061	0.0061	0.0063	0.0058	0.0093	0.0057	0.0056	0.0087	0.0085	0.0019	0.0022	0.0076	0.0101	0	0.0002	0.0034	0.0093	0.0085	0.0073	0.43	0.09543	T	1.0	0.01155	T	0.037	0.20876	B	0.012	0.16012	B	0.597005	0.05624	N	1.266050	1	0.08975	N	1.245	0.31408	L	0.94	0.43672	T	-2.17	0.49018	N	0.092	0.07125	-1.0270	0.21429	T	0.054	0.22808	T	10	0.005481869	0.00121	T	.	.	.	0.042	0.11227	.	.	0.0297737177859	0.01360	0.03753949567111663	0.03699	0.0705823064649	0.07905	0.360315144062	0.19431	T	0.003405	0.02809	T	-0.648829	0.00074	T	-0.697098	0.05987	T	0.0016111737451026	0.00016	T	0.456654	0.13107	T	0.0464914	0.07790	0.07059691	0.15018	0.0464914	0.07790	0.07059691	0.15018	-2.911	0.09253	T	.	.	0.182	0.39494	B	.	.	0.570465	0.09389	6.170	0.18592314549731387	0.00591	0.03232	0.08247	N	AEFBI	0.056594	0.10474	N	-0.993376873215944	0.08745	0.4111896	-1.00403197990642	0.09696	0.4839018	0.0260931468295475	0.13691	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.57	1.82	0.24209	-0.041000	0.12036	-0.022000	0.12912	0.609000	0.47794	0.001000	0.13787	0.000000	0.08366	0.135000	0.19760	0.0:0.1031:0.177:0.7199	5.281	0.14987	773	0.48803	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.025253	0.010870	0.011696	0.000000	0.017241	0.015244	0.007576	0.05	1825.43	36	chr3	107378225	.	T	C	1825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.534;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.02;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1367	9	0	1	0
chr3	107747993	107747993	C	T	exonic	BBX	.	nonsynonymous SNV	BBX:NM_001142568:exon9:c.C779T:p.A260V,BBX:NM_001276286:exon9:c.C779T:p.A260V,BBX:NM_020235:exon9:c.C779T:p.A260V	.	432	1076	14	0	0	14	0.00646353	.	.	.	697736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0012	0.00119808	0.0026	0.0005	0.0008	0	0.0008	0.0017	0.0055	0.0110	0.0022703	351	154602	rs150121801	0.0019	0.0019	0.0016	0.0022	0.0112	0.0018	0.0018	0.0106	0.0104	8.973e-05	0.0009	0.0024	2.524e-05	0.0004	0.0049	0.0014	0.0025	0.0112	0.0011	0.0011	0.0010	0.0012	0.0097	0.0010	0.0009	0.0075	0.0067	0.0001	0.0033	0.0008	0.0017	0	0.0003	0.0068	0.0012	0.0024	0.0097	0.275	0.46513	T	0.362	0.38160	T	0.05	0.28155	B	0.053	0.38054	B	0.671593	0.10337	N	0.864450	0.999996	0.08975	N	0.345	0.11182	N	-4.68	0.98998	D	-1.22	0.34795	N	0.109	0.13911	0.703	0.93215	D	0.910	0.97029	D	10	0.003517747	0.00063	T	.	.	.	0.270	0.58507	.	.	0.688640784998	0.68597	0.19134871666215023	0.19052	0.152041658609	0.17156	0.272841215134	0.06514	T	0.018017	0.14600	T	-0.259374	0.12973	T	-0.134961	0.60551	T	0.0108842420833424	0.00155	T	0.771723	0.40231	T	0.030109227	0.02617	0.041255217	0.04647	0.030109227	0.02617	0.041255217	0.04647	-2.96	0.09757	T	.	.	0.077	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	0.940276	0.13156	9.660	0.99823293746469866	0.90590	0.03715	0.09002	N	AEFBI	0.032030	0.03539	N	-0.681523254211276	0.16548	0.8441102	-0.672924091218589	0.17640	0.9388232	0.047564392244602	0.14735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.79	0.992	0.18937	0.460000	0.21635	0.907000	0.22596	0.599000	0.40250	0.015000	0.19116	0.992000	0.31684	0.761000	0.36181	0.0:0.5723:0.0:0.4277	7.584	0.27150	822	0.40702	.;HMG box transcription factor BBX, domain of unknown function DUF2028;HMG box transcription factor BBX, domain of unknown function DUF2028;.;HMG box transcription factor BBX, domain of unknown function DUF2028;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.011364	0.05	618.43	36	chr3	107747993	.	C	T	618.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.078;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=-0.434;SOR=0.641	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr3	108394107	108394107	C	T	exonic	MYH15	.	nonsynonymous SNV	MYH15:NM_014981:exon37:c.G5243A:p.R1748Q	.	419	1090	13	0	0	13	0.00592795	.	.	.	697740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.121	.	0.0053	0.00379393	0.0085	0.0011	0.0027	0.0001	0.0224	0.0101	0.0122	0.0090	0.0079947	1236	154602	rs56118396	0.0073	0.0073	0.0072	0.0075	0.0103	0.0072	0.0072	0.0098	0.0095	0.0013	0.0021	0.0005	0.0001	0.0194	0.0031	0.0074	0.0062	0.0103	0.0062	0.0062	0.0058	0.0066	0.0086	0.0059	0.0057	0.0081	0.0078	0.0013	0.0143	0.0019	0.0009	0.0004	0.0199	0	0.0086	0.0024	0.0081	1.0	0.00964	T	1.0	0.01155	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	-0.735	0.01762	N	-1.07	0.76948	T	2.16	0.00339	N	0.114	0.10198	-0.9384	0.42869	T	0.080	0.31795	T	9	0.004033953	0.00078	T	.	.	.	0.121	0.33580	.	.	0.260735089382	0.25697	0.04463529659902546	0.04407	0.0932311091372	0.10534	0.183556064963	0.00131	T	0.040009	0.25382	T	-0.602125	0.00142	T	-0.628292	0.10545	T	0.000304934806533025	0.00002	T	0.121088	0.00938	T	0.018657751	0.00388	0.042751234	0.05162	0.018657751	0.00388	0.042751234	0.05161	-0.025	0.00358	T	.	.	0.066	0.02091	B	.	.	-0.497752	0.01874	0.153	0.39174246166261367	0.02687	0.01390	0.04723	N	AEFBI	0.058089	0.10871	N	-1.88771121008546	0.00364	0.0156342	-1.79436086791697	0.00777	0.03467481	0.00152812571980073	0.08613	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.78	-3.55	0.04343	-0.016000	0.12550	-1.472000	0.05362	-1.939000	0.00492	0.000000	0.06391	0.000000	0.08366	0.609000	0.31615	0.1173:0.4811:0.0:0.4016	7.693	0.27745	316	0.87161	Myosin tail	.	.	.	.	rs56118396	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.005051	0.001359	0.008772	0.000000	0.008621	0.003049	0.000000	0.05	1004.43	35	chr3	108394107	.	C	T	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.074;DP=381;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=0.953;SOR=0.506	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1161	9	0	1	0
chr3	108576342	108576342	C	G	exonic	CIP2A	.	nonsynonymous SNV	CIP2A:NM_020890:exon8:c.G823C:p.E275Q	.	547	974	0	1	0	2	0.00102564	.	.	.	3293885	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00669576050526	0.0002	.	0.0001	0	0	0	0	0.0002	0	0	0.0001035	16	154602	rs199821162	0.0001	0.0001	0.0001	0.0001	0.0024	9.716e-05	9.188e-05	0.0014	0.0011	0.0001	0.0003	8.151e-05	0	0	0.0024	0.0001	0.0002	5.258e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	2.412e-05	0	0.0005	0	0	0	0.0034	0.0003	0.0009	0.0002	0.019	0.50132	D	0.126	0.35205	T	0.909	0.50183	P	0.48	0.47081	P	0.000006	0.62929	D	0.142736	0.997403	0.43861	D	0.515	0.13537	N	1.32	0.35219	T	-1.14	0.29323	N	0.414	0.46274	-0.9486	0.41211	T	0.125	0.43028	T	10	0.30412078	0.47939	T	0.006696	0.17671	T	0.097	0.27909	.	.	0.59199265086	0.58876	0.1660569587061485	0.16525	0.595140059168	0.54798	0.546787023544	0.45403	T	0.002884	0.19262	T	-0.365172	0.03846	T	-0.467486	0.25788	T	0.129848226904869	0.15368	T	0.873013	0.58094	D	0.32902864	0.55392	0.26675704	0.52525	0.32902864	0.55392	0.26675704	0.52524	-3.827	0.21208	T	.	.	0.130	0.30022	B	.;.;.	.;.;.	3.559695	0.50079	22.9	0.99716450953476576	0.81703	0.94475	0.61285	D	AEFGBI	0.277490	0.39199	N	0.559785288277818	0.70680	5.537231	0.61147013909418	0.75770	6.369997	0.999997150803918	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.91	5.91	0.95240	2.893000	0.48331	5.964000	0.51876	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9319:0.0:0.0681	15.385	0.74406	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	800.43	40	chr3	108576342	.	C	G	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.949;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.722;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	9	0	1	0
chr3	108916115	108916115	T	C	exonic	GUCA1C	.	nonsynonymous SNV	GUCA1C:NM_001363884:exon3:c.A454G:p.T152A	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0139641451415	0.0005	0.000399361	0.0011	0.0002	0.0013	0	0.0002	0.0015	0.0022	0.0008	0.0010543	163	154602	rs201266111	0.0011	0.0011	0.0011	0.0012	0.0050	0.0011	0.0011	0.0036	0.0031	0.0004	0.0018	0.0085	0	1.872e-05	0.0050	0.0011	0.0014	0.0008	0.0012	0.0012	0.0012	0.0011	0.0016	0.0010	0.0010	0.0011	0.0010	0.0002	0.0197	0.0016	0.0086	0	0	0	0.0012	0.0057	0.0006	0.045	0.40832	D	0.351	0.19480	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	-0.22	0.10480	N	0.056	0.03283	-0.9838	0.34116	T	0.103	0.37844	T	8	0.004726976	0.00099	T	0.013964	0.33748	T	0.056	0.15993	.	.	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.626544	0.00100	T	-0.680027	0.06982	T	0.00161427654136569	0.00016	T	0.193481	0.02080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.09239	B	.;.	.;.	-0.452114	0.02026	0.182	0.36907137052945782	0.02401	0.01791	0.05598	N	AEFBI	0.056173	0.10363	N	-1.63764120244788	0.01088	0.0472323	-1.77910658445067	0.00828	0.03699592	0.310268447475888	0.19279	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.26	-8.51	0.00804	-1.373000	0.02675	-5.303000	0.01769	-1.785000	0.00646	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.4304:0.1762:0.2291:0.1643	0.895	0.01181	799	0.44747	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3315.14	33	chr3	108916115	.	T	C	3315.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.23;DP=571;ExcessHet=0.2348;FS=2.526;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.935;SOR=0.562	GT:AD:DP:GQ:PL	0/1:89,72:161:99:1665,0,2075	8	0	2	0
chr3	109061989	109061989	T	A	exonic	MORC1	.	nonsynonymous SNV	MORC1:NM_014429:exon11:c.A965T:p.K322M	.	434	1083	5	0	0	5	0.00230309	0.9994	0.978	.	720063	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.105	.	0.0080	0.00459265	0.0048	0.0111	0.0028	0	0.0047	0.0055	0.0055	0.0018	0.0047735	738	154602	rs17225637	0.0047	0.0047	0.0049	0.0046	0.0128	0.0046	0.0046	0.0118	0.0114	0.0128	0.0028	0.0018	0	0.0049	0.0033	0.0050	0.0045	0.0018	0.0063	0.0063	0.0064	0.0063	0.0124	0.0060	0.0059	0.0115	0.0112	0.0124	0	0.0039	0.0017	0	0.0048	0.0034	0.0046	0.0057	0.0017	0.003	0.68238	D	0.029	0.56640	D	0.061	0.23190	B	0.039	0.23607	B	0.109723	0.02627	N	1.769550	0.799926	0.29127	N	2.39	0.68882	M	3.24	0.06931	T	-2.75	0.58407	D	0.383	0.42443	-1.0182	0.24301	T	0.027	0.11397	T	10	0.0076232255	0.00173	T	.	.	.	0.105	0.29889	.	.	0.295974979623	0.29207	0.635917369716994	0.63525	0.454143178451	0.45108	0.313199520111	0.12390	T	0.143328	0.47939	T	-0.579052	0.00195	T	-0.593513	0.13363	T	0.0225987782914254	0.00977	T	0.664534	0.27348	T	0.14804329	0.33816	0.16649102	0.38459	0.14804329	0.33816	0.16649102	0.38458	-6.193	0.48611	T	.	.	0.196	0.41753	B	.;.	.;.	3.866285	0.56101	23.7	0.99368618001425768	0.61326	0.85277	0.44396	D	AEFBI	0.282884	0.39612	N	-0.00684072183946582	0.41545	2.486904	0.0950967934928079	0.44302	2.714561	0.110769812287772	0.16641	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	2.054000	0.40961	3.966000	0.40787	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.149000	0.20271	0.0:0.0:0.0:1.0	11.789	0.51328	868	0.31772	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.012228	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	965.43	39	chr3	109061989	.	T	A	965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.479;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.375;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,108,1519:.	9	0	1	0
chr3	111885120	111885125	CCTGTG	-	exonic	PHLDB2	.	nonframeshift deletion	PHLDB2:NM_001134438:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134439:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_145753:exon2:c.1043_1048del:p.C349_A350del,PHLDB2:NM_001134437:exon3:c.1124_1129del:p.C376_A377del	.	426	1041	53	2	0	57	0.026648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0061901	0.0067	0.0003	0.0016	0.0006	0.0002	0.0036	0.0066	0.0325	0.0006916	18	26028	rs562210962	0.0051	0.0051	0.0040	0.0061	0.0357	0.0050	0.0049	0.0347	0.0342	0.0006	0.0019	0.0004	0.0002	0.0002	0.0123	0.0034	0.0056	0.0357	0.0032	0.0032	0.0026	0.0039	0.0361	0.0030	0.0029	0.0317	0.0301	0.0006	0	0.0034	0	0.0008	0.0003	0.0068	0.0033	0.0028	0.0361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2199.39	34	chr3	111885119	.	TCCTGTG	T	2199.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.577;DP=453;ExcessHet=0;FS=6.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=0.468;SOR=1.278	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	9	0	1	0
chr3	112126994	112126994	T	G	exonic	GCSAM	.	nonsynonymous SNV	GCSAM:NM_001190260:exon3:c.A138C:p.Q46H,GCSAM:NM_001190259:exon4:c.A189C:p.Q63H,GCSAM:NM_152785:exon4:c.A183C:p.Q61H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0002	0.00399361	0.0013	0	0	0.0174	0	4.52e-05	0.0011	0.0003	0.0012354	191	154602	rs74831119	0.0006	0.0006	0.0006	0.0006	0.0195	0.0006	0.0006	0.0183	0.0179	0	0	0	0.0195	3.748e-05	0.0002	3.571e-05	0.0007	0.0003	0.0007	0.0007	0.0005	0.0009	0.0191	0.0006	0.0006	0.0160	0.0149	0	0	0	0	0.0191	0	0	4.41e-05	0.0005	0.0019	0.085	0.33254	T	0.14	0.33666	T	0.103	0.25884	B	0.085	0.29395	B	0.333358	0.04144	N	1.478470	1	0.08975	N	1.445	0.36358	L	.	.	.	-1.75	0.49352	N	0.224	0.32481	-1.0315	0.19970	T	0.028	0.11926	T	9	0.002620846	0.00040	T	.	.	.	0.039	0.10176	0.107	0.01868	0.0551355673512	0.04727	0.05094661677769747	0.05036	0.574526423145	0.53482	0.216872990131	0.01137	T	0.176057	0.52586	T	-0.494201	0.00616	T	-0.469688	0.25551	T	0.0188061930268627	0.00591	T	.	.	.	0.06024162	0.12337	0.06429073	0.12864	0.06024162	0.12337	0.06429073	0.12864	-4.414	0.30692	T	0.22054275236106247	0.29732	0.159	0.36355	B	.;.;.;.;.	.;.;.;.;.	1.076365	0.14590	11.15	0.98531162043900555	0.42595	0.08162	0.14126	N	AEFDBCI	0.070243	0.13937	N	-1.13298851662832	0.06064	0.278175	-1.17056193406193	0.06406	0.308271	0.999999492952914	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.468601	0.07175	0	0.564101	0.26826	0	.	.	4.79	-0.414	0.11743	0.017000	0.13294	-0.527000	0.08657	-0.123000	0.13640	0.001000	0.13787	0.000000	0.08366	0.156000	0.20513	0.1587:0.1767:0.1651:0.4994	0.853	0.01102	830	0.39242	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1020.43	33	chr3	112126994	.	T	G	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.048;DP=396;ExcessHet=0;FS=3.071;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=-0.951;SOR=0.999	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr3	112974799	112974801	AAG	-	exonic	CD200R1	.	nonframeshift deletion	CD200R1:NM_138806:exon1:c.57_59del:p.F19del,CD200R1:NM_138939:exon1:c.57_59del:p.F19del,CD200R1:NM_138940:exon1:c.57_59del:p.F19del,CD200R1:NM_170780:exon1:c.57_59del:p.F19del	.	424	1067	30	1	0	32	0.0147738	.	.	.	3546958	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0068	0.0012	0.0016	0	0.0008	0.0075	0.0078	0.0166	0.0012679	33	26028	rs564728039	0.0065	0.0066	0.0061	0.0069	0.0169	0.0064	0.0064	0.0162	0.0159	0.0007	0.0026	0.0067	0	0.0011	0.0082	0.0066	0.0053	0.0169	0.0044	0.0045	0.0045	0.0044	0.0162	0.0042	0.0041	0.0133	0.0122	0.0008	0	0.0032	0.0066	0.0002	0.0008	0.0068	0.0069	0.0043	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011581	0.005051	0.005435	0.011696	0.000000	0.008621	0.015244	0.026515	0.05	854.39	34	chr3	112974798	.	TAAG	T	854.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=389;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.083;SOR=0.838	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1057	9	0	1	0
chr3	113400593	113400593	C	T	exonic	CFAP44	.	nonsynonymous SNV	CFAP44:NM_001164496:exon12:c.G1426A:p.V476M,CFAP44:NM_018338:exon12:c.G1426A:p.V476M	.	433	1080	8	1	0	10	0.00460829	.	.	.	720080	CFAP44-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00938962937492	0.0035	0.000998403	0.0032	0.0005	0.0005	0.0001	0.0020	0.0052	0.0011	0.0010	0.0032406	501	154602	rs140356033	0.0045	0.0045	0.0047	0.0044	0.0054	0.0044	0.0044	0.0053	0.0053	0.0009	0.0010	0.0033	0	0.0023	0.0044	0.0054	0.0036	0.0009	0.0027	0.0027	0.0029	0.0025	0.0047	0.0025	0.0024	0.0043	0.0041	0.0007	0	0.0010	0.0043	0	0.0018	0	0.0047	0.0024	0.0008	0.45	0.14945	T	0.308	0.19845	T	0.377	0.34270	B	0.055	0.25995	B	.	.	.	.	0.999999	0.08975	N	.	.	.	-0.16	0.65378	T	0.27	0.04306	N	0.401	0.44187	-1.0198	0.23780	T	0.040	0.17277	T	9	0.008446187	0.00191	T	0.00939	0.24623	T	0.055	0.15663	.	.	0.0551355673512	0.04727	0.29472112457131805	0.29385	0.0932570728176	0.10540	0.300807952881	0.10521	T	0.011657	0.10368	T	-0.561809	0.00248	T	-0.57605	0.14900	T	0.00434306243996208	0.00046	T	0.723828	0.34357	T	0.020074658	0.00554	0.04838696	0.07176	0.020852897	0.00659	0.04299904	0.05251	-1.395	0.01850	T	.	.	0.075	0.07697	B	.;.	.;.	0.025623	0.04461	1.182	0.54114930578052978	0.05073	0.02087	0.06201	N	AEFBI	0.041378	0.06283	N	-1.46979112449287	0.02066	0.09083321	-1.55721998757784	0.01926	0.08790916	0.336051670714288	0.19535	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.98	-8.88	0.00679	-1.604000	0.02179	-0.530000	0.08641	-0.136000	0.12710	0.001000	0.13787	0.000000	0.08366	0.165000	0.20815	0.1851:0.2326:0.1988:0.3835	0.836	0.01067	188	0.92666	WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	175.43	27	chr3	113400593	.	C	T	175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.834;DP=293;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=1.34;SOR=0.675	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,626	9	0	1	0
chr3	113655042	113655042	C	T	exonic	USF3	.	nonsynonymous SNV	USF3:NM_001009899:exon7:c.G6640A:p.A2214T	.	.	.	.	.	.	.	.	.	.	.	3489549	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0104843920517	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs749437005	6.84e-05	6.84e-05	3.267e-05	0.0001	0.0011	5.713e-05	5.326e-05	0.0009	0.0009	0	0	0	0	0	0	0	4.967e-05	0.0011	5.91e-05	5.907e-05	1.285e-05	0.0001	0.0017	3.075e-05	2.209e-05	0.0008	0.0006	0	0	6.539e-05	0	0	0	0	0	0	0.0017	0.146	0.25055	T	0.262	0.22895	T	.	.	.	.	.	.	0.000043	0.53742	N	0.127978	0.99949	0.81001	D	.	.	.	2.17	0.19020	T	-0.33	0.12472	N	0.19	0.21580	-1.0368	0.18295	T	0.042	0.18035	T	10	0.038381398	0.02253	T	0.010484	0.27066	T	0.182	0.45420	0.149	0.05238	0.043077524339	0.03247	0.35593305602693043	0.35507	0.157523746145	0.17784	0.634809613228	0.57826	T	.	.	.	-0.33052	0.06073	T	-0.333051	0.41127	T	0.127567555321574	0.15155	T	0.788221	0.42759	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.17275	B	.;.	.;.	2.641276	0.34369	19.61	0.99721893733034861	0.82125	0.73685	0.36042	D	AEFDBCI	0.131679	0.25070	N	0.0976089924312948	0.46350	2.876798	0.164669938461187	0.47925	3.015501	0.0929058959941499	0.16169	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.57	4.69	0.58546	1.392000	0.34095	3.327000	0.37595	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.999000	0.91618	0.1466:0.7048:0.0:0.1486	6.535	0.21548	451	0.79296	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1756.43	34	chr3	113655042	.	C	T	1756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.543;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.386;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	9	0	1	0
chr3	114056378	114056378	T	G	exonic	CCDC191	.	nonsynonymous SNV	CCDC191:NM_001353766:exon1:c.A89C:p.K30T,CCDC191:NM_001353767:exon1:c.A204C:p.Q68H,CCDC191:NM_020817:exon1:c.A89C:p.K30T	.	423	1091	8	0	0	8	0.00365297	0.9999	0.988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.098538815935	0.0004	0.000599042	0.0012	0.0006	0.0006	0	0.0002	0.0017	0.0022	0.0008	0.0011707	181	154602	rs188278742	0.0009	0.0009	0.0009	0.0010	0.0043	0.0009	0.0009	0.0030	0.0026	0.0003	0.0007	0.0007	0	0.0004	0.0043	0.0010	0.0010	0.0010	0.0008	0.0008	0.0009	0.0006	0.0012	0.0007	0.0006	0.0010	0.0009	0.0002	0	0.0008	0	0	0.0002	0.0136	0.0012	0.0028	0.0010	0.009	0.65419	D	0.02	0.58613	D	0.585	0.38912	P	0.399	0.44455	B	0.650297	0.10519	N	0.850573	1	0.81001	D	.	.	.	1.41	0.69027	T	-1.13	0.51319	N	0.43	0.46928	-0.6120	0.64320	T	0.243	0.61166	T	10	0.021882564	0.00894	T	0.098539	0.76958	D	0.102	0.29158	.	.	0.780395842186	0.77837	0.1119019663191895	0.11119	0.251783171802	0.27756	0.358437001705	0.19157	T	0.001356	0.54412	T	-0.249647	0.14140	T	-0.150391	0.59209	T	0.126157848300512	0.15023	T	0.485551	0.14815	T	0.22588997	0.45259	0.28011796	0.53985	0.22588997	0.45259	0.28011796	0.53984	-4.547	0.31498	T	.	.	0.127	0.47762	B	.;.	.;.	4.632355	0.73669	26.0	0.99537961041996825	0.70336	0.76228	0.37370	D	ALL	0.597602	0.59132	D	0.594750067591439	0.72845	5.870465	0.586350544569508	0.73961	6.056679	0.999999999901552	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	5.54	5.54	0.82907	3.663000	0.54256	7.812000	0.69465	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:0.0:0.0:1.0	11.996	0.52493	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1030.43	33	chr3	114056378	.	T	G	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.059;DP=431;ExcessHet=0;FS=1.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=-1.099;SOR=0.904	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1225	9	0	1	0
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.05	2417.43	37	chr3	114350760	.	C	T	2417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.545;DP=496;ExcessHet=0;FS=7.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.406;SOR=0.374	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1432	9	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	184.11	82	chr3	115676196	.	G	C	184.11	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.041;DP=817;ExcessHet=4.5998;FS=209.673;InbreedingCoeff=-0.4297;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.792;SOR=10.138	GT:AD:DP:GQ:PL	0/0:73,24:97:15:0,15,1375	4	0	6	0
chr3	119147010	119147010	C	T	exonic	TEX55	.	nonsynonymous SNV	TEX55:NM_152539:exon1:c.C821T:p.T274I	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0045	0.00459265	0.0012	0.0129	0.0005	0	0	0.0001	0	0.0001	0.0012096	187	154602	rs111772696	0.0003	0.0003	0.0003	0.0003	0.0106	0.0003	0.0003	0.0097	0.0093	0.0106	0.0008	0	0	0	0.0028	3.327e-05	0.0006	6.956e-05	0.0036	0.0036	0.0038	0.0034	0.0123	0.0034	0.0033	0.0115	0.0111	0.0123	0	0.0019	0	0	0	0	4.41e-05	0.0019	0	0.264	0.16358	T	0.315	0.19421	T	0.007	0.14184	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.28	0.10031	N	1.59	0.28836	T	-1.56	0.37759	N	0.029	0.00666	-1.0382	0.17863	T	0.016	0.06377	T	9	0.002955854	0.00048	T	.	.	.	0.009	0.00846	.	.	0.0297737177859	0.01360	0.046697440154733545	0.04612	0.0477099452941	0.05209	.	.	.	0.017563	0.14308	T	-0.651524	0.00071	T	-0.698258	0.05922	T	0.00658722181036217	0.00074	T	0.377662	0.09049	T	0.031345107	0.02959	0.032617282	0.02026	0.031345107	0.02958	0.032617282	0.02026	-3.934	0.22813	T	.	.	0.146	0.32324	B	.	.	-2.296852	0.00051	0.001	0.57598582230209039	0.05805	0.00775	0.03189	N	AEFBCI	0.023952	0.01408	N	-1.88371333643327	0.00371	0.01593223	-1.9656629763108	0.00361	0.01595607	0.994779756972835	0.33794	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	2.28	-4.56	0.03187	-3.943000	0.00371	-9.025000	0.00878	-0.798000	0.03190	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1304:0.18:0.1301:0.5595	2.497	0.04342	318	0.87072	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2187.43	62	chr3	119147010	.	C	T	2187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.079;DP=945;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.157;SOR=0.675	GT:AD:DP:GQ:PL	0/0:148,0:148:99:0,120,1800	9	0	1	0
chr3	119187797	119187797	C	A	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon3:c.C92A:p.A31E	.	431	1085	3	0	3	6	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.15241338006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.555e-05	0	0	0	0	0	0.0005	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000026	0.55875	D	0.067402	0.999559	0.81001	D	2.175	0.60977	M	0.55	0.81640	T	2.34	0.68298	N	0.944	0.95139	0.347	0.88295	D	0.641	0.87469	D	10	0.8703984	0.86303	D	0.152413	0.83383	D	0.747	0.91285	0.726	0.86024	0.619636564904	0.61655	0.8662946577778128	0.86594	0.297192746947	0.32101	0.677162706852	0.63862	T	0.821	0.95626	D	0.397975	0.89796	D	0.333887	0.89668	D	0.982354760169983	0.74442	D	0.218178	0.63332	T	0.9731712	0.98548	0.95209473	0.98524	0.9731712	0.98548	0.95209473	0.98525	-14.735	0.95200	D	.	.	0.121	0.94573	B	.;.;.;.;.	.;.;.;.;.	5.563140	0.92155	32	0.99632011722004277	0.76081	0.97001	0.72119	D	AEFGBI	0.662252	0.63219	D	0.728353102315445	0.81492	7.53467	0.716700904674869	0.83649	8.077	0.999999999928854	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	5.635000	0.67514	5.863000	0.50453	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:1.0:0.0:0.0	18.052	0.89278	355	0.85216	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	970.43	33	chr3	119187797	.	C	A	970.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.714;DP=439;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=1.25;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	9	0	1	0
chr3	119191030	119191030	A	T	exonic	UPK1B	.	nonsynonymous SNV	UPK1B:NM_006952:exon5:c.A394T:p.N132Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0934484985079	.	.	4.942e-05	0	0	0	0	5.994e-05	0.0011	6.056e-05	3.88e-05	6	154602	rs774210812	2.121e-05	2.121e-05	1.77e-05	2.475e-05	0.0003	1.52e-05	1.324e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.158e-05	6.623e-05	1.159e-05	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.939e-05	0	0.0002	0.007	0.59928	D	0.05	0.49942	T	0.82	0.51088	P	0.378	0.46845	B	0.196114	0.16720	N	0.626027	0.923958	0.27226	N	0.55	0.14455	N	-2.16	0.86549	D	-1.22	0.32387	N	0.429	0.58458	-0.3018	0.74935	T	0.471	0.79647	T	10	0.24065053	0.41227	T	0.093448	0.76075	D	0.391	0.70684	0.401	0.43081	0.843998760317	0.84250	0.6643205689706699	0.66369	0.226483481589	0.25203	0.411198854446	0.26622	T	0.131211	0.47116	T	-0.0775445	0.40114	T	-0.192798	0.55328	T	0.195668131113052	0.20173	T	0.772623	0.40374	T	0.08815765	0.20557	0.086981356	0.20187	0.08815765	0.20556	0.086981356	0.20186	-4.664	0.32965	T	.	.	0.097	0.31279	B	.;.;.;.;.	.;.;.;.;.	3.601937	0.50884	23.0	0.99290657499733503	0.58255	0.82754	0.41939	D	AEFBI	0.238488	0.36060	N	0.263608699085271	0.54315	3.597383	0.333440628158346	0.57516	3.917552	0.999964136725864	0.48965	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.55	4.33	0.51083	2.767000	0.47321	7.865000	0.71651	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.6032:0.311:0.0858:0.0	5.714	0.17219	366	0.84579	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	972.43	36	chr3	119191030	.	A	T	972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.117;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-1.522;SOR=0.725	GT:AD:DP:GQ:PL	0/1:65,48:113:99:984,0,1672	9	0	1	0
chr3	119537316	119537316	G	A	exonic	CD80	.	nonsynonymous SNV	CD80:NM_005191:exon4:c.C521T:p.S174F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	.	.	0.00299521	0.0016	0	8.651e-05	0.0002	0	1.499e-05	0.0011	0.0117	0.0014424	223	154602	rs557789334	0.0007	0.0007	0.0004	0.0010	0.0112	0.0007	0.0006	0.0106	0.0103	2.987e-05	0	0	2.52e-05	0	0.0005	2.698e-06	0.0008	0.0112	0.0005	0.0005	0.0002	0.0008	0.0160	0.0004	0.0004	0.0131	0.0120	0	0	0	0	0.0002	0	0	1.47e-05	0.0005	0.0160	0.106	0.29688	T	0.028	0.54934	D	0.999	0.77913	D	0.965	0.71173	D	0.202514	0.16564	N	0.550372	0.755761	0.81001	D	1.545	0.39105	L	-1.21	0.78645	T	-1.36	0.39503	N	0.239	0.26957	-0.2824	0.75475	T	0.468	0.79471	T	10	0.014136165	0.00298	T	.	.	.	0.380	0.69780	0.45	0.51121	0.87115763179	0.86990	0.4155837515344031	0.41474	0.544817546542	0.51525	0.405417025089	0.25822	T	0.591415	0.86770	D	-0.401303	0.02270	T	-0.338833	0.40477	T	0.0562751892070777	0.06569	T	0.825817	0.49964	T	0.15942807	0.35813	0.09658207	0.22953	0.15942807	0.35813	0.09658207	0.22953	-6.127	0.50255	T	.	.	0.135	0.29422	B	.;.;.	.;.;.	2.933806	0.38987	20.9	0.99381422992552315	0.61891	0.52172	0.29068	D	AEFBI	0.127749	0.24524	N	0.00809691155564879	0.42223	2.54	-0.0667513048338584	0.36774	2.144444	0.0044273550582207	0.10550	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.23	0.287	0.14965	0.673000	0.24883	0.933000	0.22794	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.3368:0.0:0.5127:0.1504	4.23	0.10053	626	0.65439	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|CD80, IgC-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|CD80, IgC-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1117.43	33	chr3	119537316	.	G	A	1117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.685;DP=391;ExcessHet=0;FS=4.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.43;SOR=0.319	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1258	9	0	1	0
chr3	119544828	119544828	G	A	exonic	CD80	.	nonsynonymous SNV	CD80:NM_005191:exon3:c.C140T:p.T47M	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0286175331131	7.7e-05	0.000199681	0.0002	0	0.0002	0	0.0003	0.0003	0	0.0001	0.000194	30	154602	rs201443429	0.0001	0.0001	9.801e-05	0.0001	0.0009	9.94e-05	9.348e-05	0.0003	0.0002	8.961e-05	0.0001	0	2.519e-05	0.0002	0.0009	0.0001	0.0002	0.0001	7.882e-05	7.875e-05	7.713e-05	8.058e-05	0.0004	4.495e-05	3.511e-05	7.304e-05	3.339e-05	2.407e-05	0	0	0	0	0.0002	0	0.0001	0	0.0004	0.157	0.23997	T	0.104	0.38596	T	0.902	0.49745	P	0.204	0.37039	B	0.010895	0.01289	N	2.688840	1	0.08975	N	0.935	0.23595	L	-0.36	0.68754	T	-0.28	0.11547	N	0.082	0.10483	-0.8954	0.48446	T	0.158	0.49027	T	10	0.17826036	0.32902	T	0.028618	0.51266	D	0.083	0.24192	.	.	0.770652981586	0.76855	0.3869759835637746	0.38612	0.272867755363	0.29797	0.300628989935	0.10495	T	0.404071	0.76064	T	-0.375359	0.03332	T	-0.484805	0.23937	T	0.012386960085579	0.00202	T	0.686431	0.29934	T	0.054456353	0.10451	0.053285964	0.08947	0.054456353	0.10450	0.053285964	0.08946	-3.653	0.20625	T	.	.	0.089	0.12276	B	.;.;.	.;.;.	0.969595	0.13466	9.975	0.88763299607334045	0.18236	0.00388	0.01954	N	AEFGBI	0.040358	0.05992	N	-0.967376306153801	0.09307	0.4399188	-1.09796672232112	0.07740	0.3777024	0.486195233825679	0.20825	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	-2.18	0.06643	-0.165000	0.09957	1.285000	0.25376	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.054000	0.15518	0.3039:0.0:0.5235:0.1727	5.428	0.15736	567	0.70732	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1590.43	39	chr3	119544828	.	G	A	1590.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=450;ExcessHet=0;FS=4.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.214;SOR=1.084	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr3	119814995	119814995	G	A	exonic	NR1I2	.	nonsynonymous SNV	NR1I2:NM_003889:exon6:c.G811A:p.D271N,NR1I2:NM_022002:exon6:c.G928A:p.D310N,NR1I2:NM_033013:exon6:c.G700A:p.D234N	.	.	.	.	.	.	.	.	.	.	.	2759788	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.855	0.545245171528	7.7e-05	0.000199681	7.488e-05	9.911e-05	0.0003	0	0	7.585e-05	0	0	7.12e-05	11	154602	rs144833620	8.414e-05	8.414e-05	7.351e-05	9.488e-05	0.0005	7.203e-05	6.75e-05	0.0003	0.0002	0.0005	0.0002	0	0	0	0.0005	7.734e-05	0.0001	0	6.566e-05	6.561e-05	0.0001	2.685e-05	0.0001	3.514e-05	2.615e-05	5.842e-05	4.239e-05	2.407e-05	0	6.533e-05	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.098200	0.999999	0.58761	D	3.315	0.90654	M	-8.36	0.99938	D	-4.71	0.79915	D	0.9	0.90476	0.848	0.95002	D	0.997	0.99928	D	10	0.905468	0.89911	D	0.545245	0.95784	D	0.855	0.95544	.	.	0.960891510894	0.96047	0.8852478564489741	0.88493	0.455770394439	0.45246	0.656468987465	0.60904	T	0.784724	0.94349	D	0.015204	0.53733	T	0.0900397	0.76249	D	0.930352389812469	0.59501	D	0.923708	0.85835	D	0.49181747	0.66611	0.297969	0.55831	0.49181747	0.66612	0.297969	0.55830	-12.655	0.87892	D	.	.	0.716	0.74401	P	.;.;.;.;.	.;.;.;.;.	5.454349	0.91089	32	0.99921563831966842	0.98787	0.98673	0.85416	D	AEFDBI	0.970564	0.99280	D	0.89216515797768	0.91371	10.84977	0.791272525444374	0.89178	9.87033	0.99999863292187	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.31	4.31	0.50718	7.868000	0.85503	11.529000	0.93080	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	14.655	0.68436	694	0.58444	Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain;.;.;Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain|Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	761.43	38	chr3	119814995	.	G	A	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.708;DP=442;ExcessHet=0;FS=5.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.054;SOR=0.628	GT:AD:DP:GQ:PL	0/1:49,35:84:99:773,0,1287	9	0	1	0
chr3	120167859	120167859	G	A	exonic	GPR156	.	nonsynonymous SNV	GPR156:NM_001168271:exon10:c.C1606T:p.R536W,GPR156:NM_153002:exon10:c.C1618T:p.R540W	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0243374650892	7.7e-05	0.000399361	0.0007	0	8.645e-05	0	0	0.0002	0.0022	0.0041	0.0005886	91	154602	rs199913082	0.0004	0.0004	0.0002	0.0005	0.0045	0.0003	0.0003	0.0041	0.0040	0	2.236e-05	0.0018	0	0	0.0002	6.295e-05	0.0007	0.0045	0.0002	0.0002	0.0001	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	0	0	0	0.0017	0	0	0	4.41e-05	0	0.0046	0.002	0.72154	D	0.019	0.59159	D	0.066	0.23586	B	0.009	0.14300	B	0.072039	0.21435	N	0.425797	1	0.08975	N	1.79	0.46772	L	1.41	0.33412	T	-2.74	0.58248	D	0.266	0.32812	-1.0407	0.17101	T	0.055	0.23148	T	9	0.0061562955	0.00139	T	0.024337	0.47327	T	0.029	0.06676	.	.	0.0401082797425	0.02173	0.3319435284028825	0.33107	0.872929906287	0.69463	0.279810249805	0.07466	T	0.028255	0.20509	T	-0.539139	0.00339	T	-0.54805	0.17513	T	0.0543781023757804	0.06254	T	0.615438	0.23533	T	0.08862289	0.20679	0.09649398	0.22929	0.08862289	0.20678	0.09649398	0.22928	-5.403	0.40948	T	.	.	0.120	0.39915	B	.;.;.	.;.;.	2.328307	0.29821	18.24	0.99521897104187262	0.69284	0.10645	0.16093	N	AEFBI	0.256558	0.37546	N	-1.08993080368548	0.06827	0.3154143	-1.16755089574884	0.06459	0.3109497	0.9996969145207	0.41870	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.28	-1.62	0.07926	0.732000	0.25740	0.412000	0.18122	-0.124000	0.13482	0.005000	0.17040	0.017000	0.20586	0.246000	0.23158	0.0:0.1328:0.3767:0.4905	6.752	0.22682	759	0.50631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1365.43	162	chr3	120167859	.	G	A	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=1251;ExcessHet=0;FS=3.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.958;SOR=0.876	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	9	0	1	0
chr3	120348820	120348820	G	T	exonic	LRRC58	.	nonsynonymous SNV	LRRC58:NM_001099678:exon1:c.C424A:p.L142M	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0002	0.00479233	0.0047	0	0.0005	0	0	0.0001	0.0019	0.0284	0.0027037	418	154602	rs201718706	0.0013	0.0013	0.0007	0.0018	0.0199	0.0012	0.0012	0.0191	0.0188	6.007e-05	0	0	2.531e-05	0	0.0005	5.588e-05	0.0015	0.0199	0.0007	0.0007	0.0004	0.0010	0.0215	0.0006	0.0006	0.0182	0.0169	4.809e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0215	0.12	0.27904	T	0.176	0.29843	T	0.39	0.34593	B	0.054	0.25828	B	0.000513	0.43753	D	0.157646	0.999998	0.58761	D	1.69	0.43327	L	1.43	0.32958	T	-0.82	0.22508	N	0.296	0.33469	-1.0332	0.19427	T	0.067	0.27640	T	10	0.004650086	0.00097	T	.	.	.	0.094	0.27141	.	.	0.572243253245	0.56891	0.46409336342726676	0.46328	0.888608386309	0.70119	0.748979091644	0.74297	T	0.051475	0.28890	T	-0.466497	0.00895	T	-0.426611	0.30320	T	0.0883715364062966	0.11023	T	0.562444	0.19755	T	0.38406903	0.59609	0.324827	0.58403	0.38406903	0.59609	0.324827	0.58402	-7.235	0.55732	T	.	.	0.159	0.35247	B	.	.	3.683853	0.52454	23.2	0.98044218111631332	0.37812	0.90607	0.51924	D	ALL	0.531011	0.55147	D	0.199467386096281	0.51174	3.300779	0.293701311337298	0.55170	3.680423	0.999999999947096	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.69	3.75	0.42236	4.406000	0.59506	8.071000	0.76440	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7339:0.2661	12.143	0.53314	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.007576	0.1	1347.12	45	chr3	120348820	.	G	T	1347.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.94;SOR=1.038	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1095	9	1	0	0
chr3	121487389	121487389	T	A	exonic	POLQ	.	stopgain	POLQ:NM_199420:exon16:c.A5542T:p.K1848X	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.303e-05	0	0	0	0	4.504e-05	0	6.072e-05	2.59e-05	4	154602	rs757184831	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0003	1.61e-05	1.416e-05	6.092e-05	4.043e-05	0	0	0	0	0	0.0003	1.709e-05	4.968e-05	0.0001	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007596	0.31308	N	0.366664	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.667	0.67564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.453337	0.92630	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.693518	0.96770	36	0.99608622989018281	0.74694	0.86377	0.45645	D	AEFDBI	0.249491	0.36971	N	0.616981174195137	0.74247	6.100553	0.460944737967961	0.65425	4.821929	0.0937711946008333	0.16190	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.66	4.49	0.54177	1.815000	0.38620	3.520000	0.38893	0.665000	0.62972	0.729000	0.28913	1.000000	0.68203	0.778000	0.36829	0.0:0.0707:0.1365:0.7928	7.844	0.28576	274	0.89249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1494.43	36	chr3	121487389	.	T	A	1494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.997;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.543;SOR=0.64	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1205	9	0	1	0
chr3	121488663	121488669	AATAGTA	-	exonic	POLQ	.	frameshift deletion	POLQ:NM_199420:exon16:c.4262_4268del:p.I1421Rfs*8	.	435	1070	15	2	0	19	0.00880037	.	.	.	969902	not_provided|Hereditary_breast_ovarian_cancer_syndrome|POLQ-related_disorder	MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0043	0.00279553	0.0059	0.0010	0.0053	0	0.0076	0.0073	0.0078	0.0058	0.0011526	30	26028	rs546221341	0.0066	0.0065	0.0063	0.0068	0.0096	0.0064	0.0064	0.0076	0.0070	0.0013	0.0041	7.769e-05	0	0.0070	0.0096	0.0072	0.0058	0.0060	0.0055	0.0055	0.0057	0.0053	0.0087	0.0052	0.0051	0.0081	0.0079	0.0012	0.0471	0.0034	0.0006	0	0.0054	0.0068	0.0087	0.0038	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1307.39	36	chr3	121488662	.	CAATAGTA	C	1307.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.072;DP=477;ExcessHet=0;FS=1.86;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=2.09;SOR=0.452	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1205	9	0	1	0
chr3	121489615	121489615	T	A	exonic	POLQ	.	stopgain	POLQ:NM_199420:exon16:c.A3316T:p.K1106X	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802356	0.09314	N	0.919826	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.438	0.53796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151251	0.69385	D	-0.0205144	0.68995	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	4.810243	0.78248	26.9	0.94882219913965682	0.25715	0.11320	0.16556	N	AEFBI	0.066754	0.13088	N	-0.541884307530331	0.20739	1.095511	-0.917921788939895	0.11671	0.5960306	0.0100732165965555	0.11962	0.615465	0.37627	0	0.653731	0.59785	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	5.11	-3.71	0.04137	-0.018000	0.12508	-0.065000	0.12373	-0.883000	0.02445	0.000000	0.06391	0.004000	0.18990	0.002000	0.04165	0.0:0.2439:0.0:0.7561	11.558	0.50013	274	0.89249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1392.43	36	chr3	121489615	.	T	A	1392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.347;SOR=0.691	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1205	9	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:50,25:75:73:73,0,721	0	0	7	3
chr3	123955845	123955845	G	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366335:exon5:c.C350G:p.T117R	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0340101483177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.171	0.18239	-1.0912	0.05335	T	0.059	0.24834	T	8	0.08301461	0.13765	T	0.03401	0.55380	D	0.030	0.07022	.	.	0.356897458496	0.35304	.	.	.	.	.	.	.	0.022028	0.17054	T	-0.0654578	0.42051	T	-0.331802	0.41268	T	0.0696924750473244	0.08608	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22282	B	.	.	1.345652	0.17528	13.22	0.96071586476479354	0.28626	0.63290	0.32043	D	AEFGBI	0.182323	0.30965	N	-0.610083649503819	0.18640	0.9693889	-0.563239010380719	0.20455	1.102105	0.947279609381334	0.27745	0.706298	0.61202	0	0.633656	0.55848	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.08	1.29	0.20717	0.535000	0.22822	3.608000	0.39244	-0.275000	0.06596	0.832000	0.30162	0.996000	0.32793	0.410000	0.27006	0.6655:0.0:0.1785:0.1561	3.853	0.08472	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	739.43	34	chr3	123955845	.	G	C	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.046;DP=388;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.21;SOR=0.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,976	9	0	1	0
chr3	123961145	123961145	T	C	exonic	CCDC14	.	nonsynonymous SNV	CCDC14:NM_001366335:exon1:c.A29G:p.Q10R,CCDC14:NM_022757:exon1:c.A29G:p.Q10R	.	410	1106	6	0	0	6	0.00270514	0.9126	0.838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0582276325653	.	0.00119808	0.0044	0	0	0	0	0.0008	0	0.0094	0.0005886	91	154602	rs199954557	0.0008	0.0008	0.0005	0.0010	0.0094	0.0007	0.0007	0.0089	0.0087	0.0001	0.0001	0.0015	2.798e-05	0	0.0014	0.0002	0.0012	0.0094	0.0004	0.0004	0.0003	0.0006	0.0064	0.0003	0.0003	0.0047	0.0041	4.811e-05	0	0.0004	0.0023	0	0	0	0.0002	0.0005	0.0064	0.021	0.49117	D	0.021	0.58089	D	0.996	0.68779	D	0.986	0.76916	D	.	.	.	.	0.997467	0.43910	D	1.1	0.28011	L	0.56	0.55266	T	-1.08	0.28906	N	0.388	0.47580	-0.6059	0.64573	T	0.259	0.62999	T	9	0.00781402	0.00177	T	0.058228	0.67243	D	0.100	0.28662	.	.	0.616575112523	0.61347	0.1111222090347736	0.11041	0.0663824598009	0.07400	0.475799977779	0.35479	T	0.042518	0.26459	T	-0.374404	0.03377	T	-0.304468	0.44251	T	0.0455950662615678	0.04710	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	-2.422	0.05269	T	.	.	0.156	0.46813	B	.;.;.;.	.;.;.;.	6.111452	0.94586	34	0.90016245213527835	0.19305	0.87820	0.47492	D	ALL	0.427625	0.49149	N	0.459755420738432	0.64760	4.737754	0.378454890646036	0.60237	4.209247	0.999999999915583	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.31	3.31	0.37025	3.212000	0.50847	7.301000	0.58090	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	8.267	0.30979	792	0.45996	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	933.43	33	chr3	123961145	.	T	C	933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=406;ExcessHet=0;FS=5.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.559;SOR=1.293	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	9	0	1	0
chr3	124678302	124678302	G	A	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322993:exon17:c.G2212A:p.V738I,KALRN:NM_007064:exon17:c.G2215A:p.V739I,KALRN:NM_001024660:exon50:c.G7306A:p.V2436I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00788940352241	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs556441458	4.858e-05	4.857e-05	2.859e-05	6.877e-05	0.0008	3.927e-05	3.605e-05	0.0006	0.0006	0	0	0	0	0	0	0	3.313e-05	0.0008	2.627e-05	2.625e-05	3.856e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.267	0.26852	T	0.188	0.50514	T	.	.	.	.	.	.	0.111000	0.19419	N	0.528727	0.849633	0.28515	N	.	.	.	0.21	0.59983	T	-0.41	0.16187	N	0.461	0.49783	-0.9174	0.45904	T	0.172	0.51341	T	10	0.07221797	0.10751	T	0.007889	0.20929	T	0.137	0.36984	.	.	0.726647214056	0.72422	.	.	.	.	0.569774389267	0.48645	T	0.005847	0.05296	T	-0.314356	0.07369	T	-0.318242	0.42768	T	0.0876760549412583	0.10939	T	0.950205	0.82551	D	.	.	.	.	.	.	.	.	-3.893	0.22197	T	.	.	0.117	0.26232	B	.;.	.;.	4.162100	0.62513	24.5	0.9977850829380398	0.86519	0.99607	0.97932	D	AEFBI	0.894843	0.83426	D	0.228135148772184	0.52565	3.430026	0.401632192506484	0.61665	4.370008	0.999871493258918	0.44625	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	5.365000	0.65866	9.858000	0.82036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.761	0.88373	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1123.43	33	chr3	124678302	.	G	A	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=399;ExcessHet=0;FS=1.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.413;SOR=0.927	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	9	0	1	0
chr3	126414156	126414156	C	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon4:c.C202A:p.Q68K	.	426	1056	40	0	0	40	0.0185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0044	0.0229633	0.0146	0.0013	0.0209	0.0679	0.0042	0.0053	0.0099	0.0323	0.0134151	2074	154602	rs75744986	0.0084	0.0084	0.0076	0.0092	0.0691	0.0083	0.0082	0.0669	0.0661	0.0020	0.0174	0.0132	0.0691	0.0042	0.0208	0.0042	0.0097	0.0316	0.0076	0.0076	0.0063	0.0089	0.0573	0.0072	0.0071	0.0520	0.0499	0.0016	0	0.0101	0.0179	0.0573	0.0050	0.0238	0.0049	0.0076	0.0347	0.973	0.42199	T	1.0	0.92824	T	0.003	0.12996	B	0.003	0.12992	B	0.014644	0.28470	N	0.273357	0.999996	0.08975	N	.	.	.	1.69	0.27032	T	0.4	0.50992	N	0.184	0.24510	-0.9978	0.30535	T	0.004	0.01295	T	10	0.0015695989	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.11163472562439454	0.11092	0.127368391803	0.14354	0.353693246841	0.18464	T	0.001697	0.01120	T	-0.599402	0.00147	T	-0.581126	0.14445	T	0.0028673461894165	0.00030	T	0.637136	0.25071	T	0.11341133	0.26786	0.07550538	0.16630	0.11341133	0.26785	0.07550538	0.16629	-4.772	0.34263	T	.	.	0.077	0.35992	B	.;.;.	.;.;.	1.302801	0.17048	12.93	0.46730800028405128	0.03765	0.10915	0.16281	N	AEFDBI	0.038909	0.05575	N	-0.834420543527329	0.12436	0.6061978	-0.749092603680264	0.15745	0.8295878	4.17246019275348E-4	0.06899	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.6	1.35	0.21078	1.095000	0.30575	3.156000	0.36547	0.549000	0.26987	0.779000	0.29461	0.997000	0.33255	0.857000	0.40602	0.5528:0.4472:0.0:0.0	9.651	0.39064	864	0.32732	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.000000	0.013587	0.011696	0.050000	0.025862	0.018293	0.022727	0.1	2661.14	33	chr3	126414156	.	C	A	2661.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.013;DP=552;ExcessHet=0.2348;FS=0.952;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.37;SOR=0.758	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	8	0	2	0
chr3	126634047	126634047	C	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0038	0	0	0	0.0050	0.0090	0	0.0004	0.0014683	227	154602	rs148730646	0.0071	0.0067	0.0074	0.0067	0.0083	0.0070	0.0069	0.0081	0.0081	0.0008	0.0028	0.0016	0	0.0058	0.0011	0.0083	0.0069	0.0002	0.0048	0.0048	0.0050	0.0046	0.0084	0.0046	0.0044	0.0078	0.0076	0.0016	0.0022	0.0033	0.0020	0	0.0024	0.0034	0.0084	0.0052	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001326	0.000000	0.000000	0.000000	0.000000	0.000000	0.005882	0.000000	0.05	1485.43	33	chr3	126634047	.	C	T	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.296;DP=423;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=0.561;SOR=0.847	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	9	0	1	0
chr3	126644356	126644356	C	T	exonic	TXNRD3	.	unknown	UNKNOWN	.	428	1030	55	2	7	66	0.0278433	.	.	.	4086936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	.	.	.	0.0015	0	0	0	0	0.0007	0	0.0025	0.0002005	31	154602	rs114444531	0.0005	0.0005	0.0004	0.0006	0.0017	0.0005	0.0005	0.0015	0.0014	0	5.602e-05	0	0	0.0001	0.0002	0.0005	0.0003	0.0017	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0005	0.0004	7.223e-05	0	6.545e-05	0	0	0	0	0.0006	0	0.0006	.	.	.	0.449	0.12993	T	.	.	.	.	.	.	0.161479	0.17650	N	0.624229	.	.	.	1.24	0.30952	L	.	.	.	.	.	.	0.064	0.03613	-0.9985	0.30339	T	0.123	0.42610	T	8	0.02256918	0.00567	T	.	.	.	0.041	0.10877	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.007512	0.06912	T	-0.599759	0.00146	T	-0.641073	0.09590	T	0.00617160756437325	0.00068	T	0.777722	0.41106	T	0.0664577	0.14300	0.0895416	0.20946	0.0664577	0.14300	0.0895416	0.20945	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	0.324220	0.06985	3.539	0.56788142825351928	0.05628	0.06577	0.12591	N	AEFBI	0.037733	0.05233	N	-0.721613812654366	0.15415	0.7766726	-0.855493224949913	0.13156	0.6809287	0.101627188008152	0.16385	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.83	-2.04	0.06937	0.236000	0.17745	-0.284000	0.10246	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.24:0.3331:0.0:0.4269	4.484	0.11193	869	0.31655	.;.;.;Glutaredoxin	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	7256.82	147	chr3	126644356	.	C	T	7256.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.585;DP=650;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=0.17;SOR=0.675	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1355	9	0	1	0
chr3	126988613	126988613	G	T	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.G20T:p.S7I	.	405	1105	12	0	0	12	0.00540054	.	.	.	697806	PLXNA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.0306953465408	0.0003	0.000599042	0.0012	0.0004	0	0	0	0.0007	0	0.0084	0.0004916	76	154602	rs375859367	0.0004	0.0004	0.0003	0.0005	0.0058	0.0003	0.0003	0.0043	0.0037	6.232e-05	5.311e-05	0.0037	5.196e-05	0	0.0058	0.0001	0.0007	0.0030	0.0003	0.0003	0.0002	0.0004	0.0035	0.0002	0.0002	0.0022	0.0018	2.405e-05	0	0.0001	0.0032	0	0	0	0.0002	0.0014	0.0035	0.026	0.46910	D	0.05	0.48080	T	.	.	.	.	.	.	0.624217	0.05774	U	1.391890	0.999962	0.52935	D	0	0.06538	N	2.94	0.09728	T	-0.93	0.24898	N	0.3	0.33904	-1.0008	0.29688	T	0.018	0.07423	T	8	0.008778155	0.00199	T	0.030695	0.52952	D	0.074	0.21613	.	.	0.229543500084	0.22568	0.5299194176901552	0.52915	0.837879280182	0.67888	0.543546915054	0.44947	T	0.137901	0.47110	T	-0.524806	0.00412	T	-0.531239	0.19162	T	0.00978345987330515	0.00129	T	0.426357	0.11459	T	0.07829908	0.17823	0.05266806	0.08721	0.07829908	0.17823	0.05266806	0.08721	-5.534	0.42185	T	.	.	0.108	0.20625	B	.	.	1.996285	0.25363	16.74	0.86886833396257601	0.16840	0.62281	0.31734	D	AEFDBCI	0.103141	0.20673	N	-0.654402605111544	0.17332	0.8909657	-0.680534052512014	0.17448	0.9277975	0.999709802540483	0.41986	0.695654	0.57023	0	0.601575	0.49859	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	3.31	1.28	0.20656	2.180000	0.42167	2.551000	0.33264	-0.826000	0.02916	0.889000	0.31176	0.662000	0.26021	0.000000	0.00833	0.2097:0.0:0.6106:0.1797	4.339	0.10539	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006592	0.000000	0.005464	0.008772	0.000000	0.000000	0.006135	0.007576	0.05	461.43	47	chr3	126988613	.	G	T	461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=388;ExcessHet=0;FS=12.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.314;SOR=3.134	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1212	9	0	1	0
chr3	127197193	127197193	G	A	exonic	C3orf56	.	nonsynonymous SNV	C3orf56:NM_001007534:exon2:c.G508A:p.V170I	.	421	1097	4	0	0	4	0.00181984	.	.	.	697810	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0092	0.00698882	0.0073	0.0139	0.0024	0	0.0100	0.0088	0.0070	0.0032	0.007128	1102	154602	rs140075011	0.0087	0.0086	0.0089	0.0085	0.0105	0.0086	0.0085	0.0098	0.0097	0.0105	0.0026	0.0026	0	0.0089	0.0010	0.0099	0.0071	0.0031	0.0087	0.0087	0.0087	0.0087	0.0122	0.0083	0.0082	0.0113	0.0110	0.0122	0.0110	0.0039	0.0026	0	0.0087	0	0.0091	0.0085	0.0029	.	.	.	.	.	.	0.056	0.22806	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	.	.	-1.0534	0.13466	T	0.044	0.18989	T	7	0.005270183	0.00115	T	.	.	.	.	.	.	.	.	.	0.003040988685360038	0.00283	.	.	.	.	.	0.019694	0.15640	T	-0.709891	0.00032	T	-0.781454	0.02410	T	0.0016074938257804	0.00016	T	0.321068	0.06505	T	0.030450528	0.02709	0.031276133	0.01694	0.030450528	0.02709	0.031276133	0.01694	-4.652	0.32818	T	.	.	0.137	0.29941	B	.	.	0.918032	0.12926	9.436	0.42496205648450464	0.03136	0.00825	0.03327	N	AEFBI	0.019135	0.00638	N	-1.70538282108636	0.00823	0.03557855	-1.82017751685251	0.00697	0.03102397	0.0408532815473035	0.14458	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	1.95	-1.67	0.07798	0.225000	0.17538	-0.103000	0.11918	-1.803000	0.00622	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.3371:0.1856:0.4774:0.0	4.327	0.10483	923	0.18507	.	ABTB1|MCM2|MCM2|MCM2|ABTB1|MCM2	Adipose_Subcutaneous|Artery_Aorta|Esophagus_Muscularis|Muscle_Skeletal|Muscle_Skeletal|Pancreas	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2181.43	165	chr3	127197193	.	G	A	2181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.63;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.226;SOR=0.708	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1412	9	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,14:60:13:.:.:13,0,868:.	1	0	9	0
chr3	128915213	128915213	C	T	exonic	CFAP92	.	stopgain	CFAP92:NM_001348520:exon14:c.G2313A:p.W771X,CFAP92:NM_001348521:exon15:c.G2217A:p.W739X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.226e-07	6.84e-07	1.427e-06	0	9.269e-07	0	0	.	.	0	0	0	0	0	0	9.269e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000262	0.46590	D	0.155080	1	0.81001	A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528224	0.95112	D	0.520981	0.95039	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.413241	0.97535	37	0.99430643213232006	0.64227	0.98437	0.82768	D	AEFDBI	0.066606	0.13052	N	0.77148202557775	0.84294	8.248098	0.620154437761453	0.76405	6.484936	0.999960766005551	0.48965	0.562547	0.31514	0	0.379588	0.06130	0	0.608884	0.39905	0	0.508809	0.08732	0	.	.	5.31	5.31	0.75063	5.645000	0.67582	2.871000	0.35267	0.549000	0.26987	0.999000	0.42656	0.994000	0.32194	0.915000	0.45038	0.0:1.0:0.0:0.0	14.821	0.69699	600	0.68026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1194.43	34	chr3	128915213	.	C	T	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.29;DP=414;ExcessHet=0;FS=1.542;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.323;SOR=0.864	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	9	0	1	0
chr3	128965581	128965581	T	C	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon8:c.A410G:p.N137S,CFAP92:NM_001348521:exon9:c.A410G:p.N137S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.48038	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.59783	A	.	.	3.125863	0.42218	21.5	0.92978479245851642	0.22560	0.77555	0.38145	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.985691377833118	0.30932	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	0.956275	0.63725	5.48	5.48	0.80675	3.841000	0.55557	7.652000	0.63756	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.0:0.0:1.0	11.963	0.52307	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2019.43	34	chr3	128965581	.	T	C	2019.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.324;DP=480;ExcessHet=0;FS=2.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-1.908;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	9	0	1	0
chr3	129478141	129478141	C	T	exonic	IFT122	.	nonsynonymous SNV	IFT122:NM_052990:exon9:c.C940T:p.R314W,IFT122:NM_001280546:exon10:c.C646T:p.R216W,IFT122:NM_018262:exon11:c.C1096T:p.R366W,IFT122:NM_001280541:exon12:c.C1249T:p.R417W,IFT122:NM_052989:exon12:c.C1273T:p.R425W,IFT122:NM_001280545:exon13:c.C823T:p.R275W,IFT122:NM_052985:exon13:c.C1426T:p.R476W	Cranioectodermal dysplasia 1, Autosomal recessive	0	1502	19	1	0	21	0.00694215	.	.	YES	272572	not_specified|Connective_tissue_disorder|not_provided|Cranioectodermal_dysplasia_1	MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MONDO:MONDO:0021093,MedGen:C0432235,OMIM:218330,Orphanet:1515	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.289353280779	0.0044	0.00139776	0.0048	0.0004	0.0005	0	0.0039	0.0069	0.0066	0.0045	0.0046118	713	154602	rs61744639	0.0048	0.0048	0.0045	0.0050	0.0047	0.0047	0.0046	0.0046	0.0045	0.0004	0.0009	0.0319	0	0.0039	0.0035	0.0047	0.0049	0.0039	0.0045	0.0045	0.0047	0.0042	0.0070	0.0042	0.0041	0.0065	0.0063	0.0004	0.0011	0.0007	0.0343	0	0.0030	0.0034	0.0070	0.0038	0.0027	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.984	0.76113	D	0.003868	0.34390	N	0.279446	0.999825	0.50225	D	2.63	0.76995	M	-1.45	0.80899	T	-5.98	0.91353	D	0.522	0.61341	0.490	0.90412	D	0.641	0.87450	D	10	0.009804696	0.00220	T	0.289353	0.90509	D	0.672	0.87868	.	.	0.952316176623	0.95181	0.5983418352486869	0.59765	0.780735406293	0.65281	0.546192884445	0.45320	T	0.715232	0.91908	D	-0.10792	0.35113	T	0.0815987	0.75685	D	0.0235890455863366	0.01094	T	0.989001	0.96320	D	0.49027917	0.66520	0.41508797	0.65633	0.43143672	0.62846	0.3999957	0.64548	-13.616	0.91742	D	0.6785857272398503	0.75465	0.189	0.47305	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.060131	0.84340	28.3	0.99913342734031829	0.98238	0.95229	0.63916	D	AEFDBI	0.799403	0.72567	D	0.67669343027995	0.78107	6.805063	0.607564439379775	0.75490	6.31943	0.999987175815797	0.51787	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	4.66	0.57857	4.700000	0.61489	2.750000	0.34528	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1377:0.8623:0.0:0.0	15.756	0.77793	496	0.76301	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.005435	0.002924	0.050000	0.017241	0.009146	0.011364	0.05	1329.43	33	chr3	129478141	.	C	T	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.477;DP=429;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-1.511;SOR=0.595	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,990	9	0	1	0
chr3	129572861	129572861	C	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon14:c.G2918A:p.R973Q	.	415	1099	7	1	0	9	0.00407793	.	.	.	697827	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.291	.	0.0002	0.00179712	0.0049	9.879e-05	0.0341	0	0	0.0002	0.0023	0.0114	0.0040685	629	154602	rs200818763	0.0015	0.0015	0.0013	0.0018	0.0250	0.0015	0.0015	0.0238	0.0233	0.0002	0.0250	0	5.038e-05	0	0.0019	7.105e-05	0.0008	0.0115	0.0011	0.0011	0.0009	0.0012	0.0093	0.0009	0.0009	0.0072	0.0064	0.0002	0	0.0065	0	0.0004	0	0.0034	5.881e-05	0.0019	0.0093	0.519	0.07283	T	0.559	0.09144	T	0.988	0.62325	D	0.669	0.53077	P	0.465473	0.12341	N	0.729376	0.957793	0.38042	D	0.55	0.14455	N	-0.98	0.75789	T	-0.66	0.19085	N	0.133	0.12913	-0.7843	0.56059	T	0.224	0.58792	T	10	0.004443109	0.00091	T	.	.	.	0.291	0.61040	.	.	0.790132611809	0.78818	0.40785569487221485	0.40701	0.362600631993	0.37909	0.301657795906	0.10647	T	0.110802	0.42579	T	-0.396626	0.02436	T	-0.318817	0.42704	T	0.0218738611491707	0.00894	T	0.762524	0.38803	T	0.09349826	0.21960	0.053922188	0.09175	0.09349826	0.21960	0.053922188	0.09175	-3.723	0.19658	T	.	.	0.072	0.04436	B	.	.	2.862929	0.37831	20.6	0.99861126366173025	0.94002	0.13007	0.17609	N	AEFDBCI	0.086086	0.17454	N	-0.160885410067365	0.34772	1.988922	-0.19897060533841	0.31574	1.788196	0.99999717894221	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.22	0.49153	0.196000	0.16979	1.727000	0.28301	0.580000	0.29708	0.036000	0.20778	0.725000	0.26378	0.820000	0.38637	0.0:0.9178:0.0:0.0822	11.613	0.50330	538	0.73119	IPT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	883.43	81	chr3	129572861	.	C	T	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.444;DP=427;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-1.267;SOR=0.35	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1260	9	0	1	0
chr3	129586630	129586630	G	C	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon3:c.C1578G:p.D526E	.	419	1101	2	0	0	2	0.000907441	.	.	.	2824912	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.207	0.0386893778334	0.0008	0.000399361	0.0015	0.0005	0.0010	0	0	0.0024	0	0.0010	0.0006274	97	154602	rs142772519	0.0019	0.0019	0.0019	0.0018	0.0023	0.0018	0.0018	0.0022	0.0022	6.047e-05	0.0004	3.949e-05	0	5.891e-05	0.0005	0.0023	0.0010	0.0008	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0013	0	0.0002	0	0	0.0016	0.0009	0.0004	0.002	0.72154	D	0.031	0.53788	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999988	0.54805	D	2.31	0.66127	M	3.63	0.04353	T	-2.65	0.64826	D	0.589	0.60918	-1.1565	0.00844	T	0.033	0.13986	T	10	0.028432906	0.00975	T	0.038689	0.58371	D	0.207	0.49555	0.39	0.41279	0.639857600353	0.63688	0.8155507093143118	0.81511	0.944256503279	0.72345	0.578715741634	0.49905	T	0.700177	0.91360	D	-0.306123	0.08094	T	-0.217116	0.53014	T	0.0757888182997704	0.09440	T	0.80302	0.45008	T	0.44613156	0.63796	0.45053798	0.68025	0.44613156	0.63796	0.45053798	0.68025	-8.158	0.62141	D	.	.	0.785	0.83001	P	.;.	.;.	3.956459	0.57992	23.9	0.99696368639599975	0.80316	0.89422	0.49877	D	AEFGBHCI	0.413991	0.48344	N	0.328904914058956	0.57636	3.931835	0.250780281641342	0.52693	3.442532	0.999999999895008	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.36	2.53	0.29594	1.961000	0.40056	5.022000	0.46754	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.338:0.0:0.662:0.0	7.697	0.27764	548	0.72362	Sema domain|Sema domain;Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1290.43	35	chr3	129586630	.	G	C	1290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.458;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-1.072;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	9	0	1	0
chr3	129827985	129827985	T	C	exonic	TMCC1	.	nonsynonymous SNV	TMCC1:NM_001128224:exon3:c.A52G:p.K18E,TMCC1:NM_001349268:exon3:c.A394G:p.K132E,TMCC1:NM_001017395:exon4:c.A394G:p.K132E,TMCC1:NM_001349264:exon4:c.A394G:p.K132E,TMCC1:NM_001349265:exon4:c.A394G:p.K132E,TMCC1:NM_001349270:exon4:c.A52G:p.K18E,TMCC1:NM_001349263:exon5:c.A394G:p.K132E,TMCC1:NM_001349266:exon5:c.A394G:p.K132E,TMCC1:NM_001349269:exon5:c.A52G:p.K18E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0166916180892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	5.445e-06	1.375e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	1.872e-05	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.59928	D	0.51	0.21411	T	0.734	0.42776	P	0.187	0.36167	B	0.000003	0.62929	D	0.058426	0.996273	0.43112	D	0.805	0.20218	L	1.15	0.57575	T	-0.78	0.66549	N	0.438	0.55799	-0.9603	0.39124	T	0.114	0.40559	T	10	0.22588563	0.39429	T	0.016692	0.38065	T	0.060	0.17295	0.323	0.30387	0.652936626075	0.65004	0.37327421740381683	0.37241	1.28093230965	0.82524	0.662895917892	0.61823	T	0.02814	0.36522	T	0.00692303	0.52606	T	-0.227832	0.51982	T	0.486434002344354	0.32133	T	0.810419	0.49290	T	0.24944204	0.47939	0.25663978	0.51367	0.24944204	0.47939	0.25663978	0.51366	-2.425	0.05288	T	.	.	0.752	0.93538	P	.;.;.;.	.;.;.;.	2.929833	0.38917	20.8	0.99758912241224762	0.84851	0.91087	0.52834	D	ALL	0.710385	0.66416	D	0.310489620421139	0.56686	3.833774	0.43917030407722	0.64024	4.648444	0.999999999684746	0.74766	0.706298	0.61202	0	0.369648	0.05902	2	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.98	5.98	0.97147	5.626000	0.67453	5.020000	0.46738	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1408:0.8592	12.334	0.54381	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1820.43	37	chr3	129827985	.	T	C	1820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=546;ExcessHet=0;FS=4.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.466;SOR=0.979	GT:AD:DP:GQ:PL	0/1:107,74:181:99:1832,0,2640	9	0	1	0
chr3	130376650	130376650	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon3:c.G481A:p.G161R,COL6A5:NM_153264:exon3:c.G481A:p.G161R	.	414	1095	12	1	0	14	0.00635209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0398813810751	.	.	0.0002	0.0001	0.0003	0	0	0.0001	0.0037	0.0005	0.0001617	25	154602	rs777760382	0.0001	0.0001	0.0001	0.0002	0.0068	0.0001	0.0001	0.0051	0.0045	5.979e-05	0.0002	0	5.045e-05	5.626e-05	0.0068	7.558e-05	0.0002	0.0005	0.0002	0.0002	8.999e-05	0.0002	0.0012	0.0001	8.717e-05	0.0005	0.0004	9.625e-05	0	0.0002	0	0	9.432e-05	0	0.0001	0	0.0012	0.031	0.45039	D	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	0.501094	0.31725	N	.	.	.	-1.74	0.83413	D	-6.67	0.92346	D	0.713	0.71587	0.690	0.93044	D	0.722	0.90455	D	9	0.8898239	0.88321	D	0.039881	0.59059	D	0.582	0.83193	0.716	0.85141	0.704975094451	0.70241	0.42902855019127556	0.42819	0.244522584449	0.26956	0.449179172516	0.31832	T	0.384598	0.74619	T	0.013283	0.53473	T	0.111305	0.77659	D	0.699732840061188	0.40706	D	0.878012	0.59262	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45810	B	.	.	4.538136	0.71308	25.7	0.9969134712643879	0.79977	0.97513	0.75238	D	AEFBI	0.787311	0.71713	D	0.545023087047701	0.69778	5.405776	0.420110695420657	0.62819	4.503933	0.999904969327129	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.14	4.25	0.49658	6.215000	0.72150	11.296000	0.92177	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:0.8484:0.1516	14.146	0.64886	413	0.81939	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	2191.43	40	chr3	130376650	.	G	A	2191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=493;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=0.287;SOR=0.783	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr3	130379796	130379796	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon4:c.C1046T:p.P349L,COL6A5:NM_153264:exon4:c.C1046T:p.P349L	.	428	1044	47	3	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	.	0.00199681	0.0131	0.0005	0.0049	0	0	0.0039	0.0158	0.0279	0.0021539	333	154602	rs142949552	0.0030	0.0028	0.0023	0.0037	0.0240	0.0029	0.0029	0.0231	0.0227	0.0006	0.0015	0.0040	5.597e-05	0.0002	0.0226	0.0016	0.0043	0.0240	0.0021	0.0021	0.0019	0.0024	0.0204	0.0019	0.0019	0.0171	0.0159	0.0004	0	0.0015	0.0063	0	0.0005	0.0170	0.0021	0.0047	0.0204	0.017	0.51248	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.69	0.82985	D	-3.96	0.73579	D	0.058	0.02964	-0.4461	0.70529	T	0.458	0.78901	T	9	0.005708158	0.00127	T	.	.	.	0.228	0.52768	.	.	.	.	0.41726518107133853	0.41642	0.188780204204	0.21197	0.303890168667	0.10984	T	0.18915	0.54328	T	-0.378357	0.03190	T	-0.297336	0.45005	T	0.0376475582209328	0.03269	T	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.481712	0.32005	18.91	0.99593865867800668	0.73748	0.12434	0.17266	N	AEFDBI	0.155089	0.28022	N	-0.088144379818127	0.37910	2.212591	-0.0915332530468588	0.35738	2.071255	0.999450908489858	0.39788	0.742599	0.98188	0	0.588764	0.42986	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	0.554000	0.23113	4.837000	0.45250	0.599000	0.40250	0.000000	0.06391	0.542000	0.25421	0.150000	0.20306	0.163:0.8369:0.0:0.0	12.876	0.57381	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018072	0.000000	0.031915	0.014019	0.000000	0.050000	0.021429	0.016667	0.05	1935.43	43	chr3	130379796	.	C	T	1935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.4;DP=493;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.603;SOR=1.195	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	9	0	1	0
chr3	130388639	130388639	A	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.A1921C:p.N641H,COL6A5:NM_153264:exon6:c.A1921C:p.N641H	.	423	1087	12	0	0	12	0.00548948	.	.	.	708566	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0092	0.00778754	0.0056	0.0237	0.0026	0.0017	0	0.0063	0.0053	0.0007	0.0017335	268	154602	rs9882852	0.0039	0.0038	0.0041	0.0037	0.0197	0.0038	0.0038	0.0185	0.0179	0.0197	0.0035	0.0131	0	0.0004	0.0104	0.0036	0.0050	0.0009	0.0090	0.0090	0.0095	0.0085	0.0224	0.0086	0.0085	0.0212	0.0207	0.0224	0	0.0056	0.0130	0.0002	9.418e-05	0.0068	0.0040	0.0147	0.0002	0.161	0.23631	T	0.592	0.08161	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.7	0.83072	D	-0.57	0.17210	N	0.12	0.11054	-0.9508	0.40833	T	0.091	0.34901	T	9	0.0036398768	0.00066	T	.	.	.	0.259	0.57090	.	.	0.250579442822	0.24687	0.2226003717683548	0.22175	0.0316227003221	0.03274	0.223733201623	0.01537	T	0.056926	0.30423	T	-0.553692	0.00277	T	-0.551197	0.17211	T	0.020721037765797	0.00772	T	0.0273973	0.00168	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10642	B	.	.	-2.006545	0.00099	0.002	0.53234945180902271	0.04900	0.00848	0.03390	N	AEFBI	0.053549	0.09658	N	-1.72050857654779	0.00771	0.03332645	-1.76460461862173	0.00879	0.03930616	0.999999999884141	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	-11.1	0.00116	-5.926000	0.00109	-9.933000	0.00759	-0.145000	0.12313	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.303:0.2122:0.1649:0.3199	0.141	0.00077	403	0.82567	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013105	0.006024	0.039474	0.004132	0.000000	0.000000	0.014563	0.000000	0.05	564.43	34	chr3	130388639	.	A	C	564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.088;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.275;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1053	9	0	1	0
chr3	130388823	130388823	A	G	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon6:c.A2105G:p.N702S,COL6A5:NM_153264:exon6:c.A2105G:p.N702S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.0120643211172	.	0.000399361	0.0009	0	0.0025	0	0	0.0014	0	0.0005	0.0001358	21	154602	rs561794912	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	3.166e-05	0.0005	0.0038	0	0	0.0004	8.25e-05	0.0004	0.0003	0.0002	0.0002	0.0002	9.403e-05	0.0006	0.0001	8.715e-05	0.0002	8.989e-05	7.217e-05	0	6.543e-05	0.0026	0	0	0	0.0001	0	0.0006	0.188	0.21304	T	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.05	0.76690	T	-0.66	0.19085	N	0.076	0.05037	-0.9411	0.42442	T	0.230	0.59571	T	9	0.004887104	0.00104	T	0.012064	0.30290	T	0.185	0.45933	.	.	0.203808441222	0.19973	0.17210072145623292	0.17130	0.0275248911149	0.02815	0.223638623953	0.01530	T	0.053395	0.29432	T	-0.510111	0.00501	T	-0.654359	0.08651	T	0.0227020386342014	0.00989	T	0.326667	0.06741	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.	.	-1.190427	0.00541	0.013	0.23704241753225189	0.01014	0.01082	0.03993	N	AEFBI	0.047932	0.08126	N	-1.39645402939991	0.02671	0.1182871	-1.45808863925754	0.02698	0.1245599	0.999664481073091	0.41534	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	-4.42	0.03329	-1.685000	0.02032	-1.945000	0.04454	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.1353:0.0913:0.7733:0.0	10.383	0.43308	403	0.82567	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1788.43	34	chr3	130388823	.	A	G	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.604;DP=455;ExcessHet=0;FS=6.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.434;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1053	9	0	1	0
chr3	130391413	130391413	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon7:c.G2651A:p.R884H,COL6A5:NM_153264:exon7:c.G2651A:p.R884H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.0180007718429	.	0.000798722	5.046e-05	0.0005	0	0	0	0	0	0	3.23e-05	5	154602	rs146510478	4.359e-05	4.309e-05	4.23e-05	4.491e-05	0.0010	3.458e-05	3.135e-05	0.0007	0.0006	0.0010	2.801e-05	0	0	0	0.0004	1.576e-05	0.0001	3.786e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	0.0001	0	0	0	0	4.409e-05	0	0	0.249	0.17183	T	0.078	0.42261	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.12	0.77593	T	-1.02	0.26843	N	0.062	0.03392	-0.7449	0.58201	T	0.238	0.60583	T	9	0.01564756	0.00328	T	0.018001	0.39912	T	0.244	0.55061	.	.	0.412064437402	0.40821	0.5334292274727841	0.53267	0.0361008489801	0.03815	0.287297159433	0.08529	T	0.094922	0.39516	T	-0.460313	0.00979	T	-0.452998	0.27365	T	0.0359184178312369	0.02967	T	0.665433	0.27458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18456	B	.	.	1.347001	0.17541	13.22	0.99503837446069676	0.68206	0.04253	0.09782	N	AEFBI	0.097420	0.19649	N	-0.587173636650357	0.19333	1.01101	-0.749380467161256	0.15737	0.8291779	0.997659262508063	0.35867	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.72	-1.33	0.08693	-0.779000	0.04764	-2.394000	0.03809	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.115000	0.18958	0.1897:0.6308:0.1795:0.0	9.723	0.39479	399	0.82780	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3205.43	189	chr3	130391413	.	G	A	3205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=612;ExcessHet=0;FS=3.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=0.336;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	9	0	1	0
chr3	130406152	130406152	A	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon16:c.A4402T:p.I1468F,COL6A5:NM_153264:exon16:c.A4402T:p.I1468F	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0581823579587	.	0.00119808	0.0022	0	0.0024	0	0	0	0	0.0054	0.0003234	50	154602	rs572953732	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0046	0	0	0	0	0	0.0012	9.277e-06	0.0001	0.0052	0.0001	0.0001	2.57e-05	0.0002	0.0035	7.087e-05	5.744e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.099	0.30656	T	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.92	0.96078	D	-2.33	0.51646	N	0.171	0.18239	-0.2761	0.75646	T	0.684	0.89069	D	9	0.011065245	0.00243	T	0.058182	0.67229	D	0.221	0.51721	0.365	0.37199	0.19670166235	0.19296	0.8115270196096501	0.81107	0.0465425490697	0.05065	0.372021436691	0.21122	T	0.495664	0.81828	T	-0.356438	0.04336	T	-0.282718	0.46526	T	0.0673356515345679	0.08272	T	0.713029	0.32487	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18746	B	.	.	-0.097202	0.03657	0.733	0.71794698634697707	0.09750	0.03161	0.08131	N	AEFBI	0.110828	0.21963	N	-1.4398460910077	0.02298	0.1013036	-1.58225447984796	0.01764	0.08023838	0.370818717723536	0.19868	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	-8.77	0.00715	-1.334000	0.02771	-3.785000	0.02538	-0.657000	0.04367	0.003000	0.16062	0.000000	0.08366	0.019000	0.11356	0.1518:0.5456:0.3026:0.0	12.629	0.56006	373	0.84140	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001471	0.000000	0.000000	0.004673	0.000000	0.000000	0.000000	0.000000	0.05	1412.43	124	chr3	130406152	.	A	T	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.568;DP=1043;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-1.49;SOR=0.701	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	9	0	1	0
chr3	130414129	130414129	C	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon22:c.C4759A:p.Q1587K,COL6A5:NM_153264:exon22:c.C4759A:p.Q1587K	.	426	1092	4	0	0	4	0.00182815	0.8203	0.566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.0932164748817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746024647	4.297e-06	4.788e-06	1.414e-06	7.258e-06	0.0002	1.55e-06	1.02e-06	7.4e-07	2.1e-07	0	0	0	0	2.03e-05	0.0002	2.787e-06	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	0.979292	0.25191	N	.	.	.	-3.21	0.93291	D	-1.71	0.40660	N	0.283	0.32037	-0.2668	0.75899	T	0.648	0.87727	D	9	0.47370636	0.60016	T	0.093216	0.76033	D	0.401	0.71479	0.45	0.51121	0.552205712323	0.54877	0.4551588952909204	0.45433	0.201967781584	0.22611	0.371863365173	0.21099	T	0.337672	0.70703	T	0.0919442	0.63408	D	-0.105705	0.62953	T	0.682610094547272	0.39907	D	0.909209	0.67884	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12371	B	.	.	4.464694	0.69523	25.4	0.98484312254113004	0.42014	0.75420	0.36926	D	AEFBI	0.397867	0.47377	N	-0.102216163341842	0.37297	2.167833	0.0113489334197086	0.40240	2.398442	2.80486503935794E-4	0.06300	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	3.82	0.43153	2.160000	0.41975	4.799000	0.44955	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.837000	0.39485	0.0:0.8014:0.1986:0.0	10.384	0.43312	370	0.84343	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	880.43	38	chr3	130414129	.	C	A	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.779;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-1.043;SOR=0.711	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1129	9	0	1	0
chr3	130421334	130421337	GGAT	-	exonic	COL6A5	.	frameshift deletion	COL6A5:NM_001278298:exon27:c.5011_5014del:p.G1671Sfs*28,COL6A5:NM_153264:exon27:c.5011_5014del:p.G1671Sfs*28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	89.39	36	chr3	130421333	.	AGGAT	A	89.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.941;DP=356;ExcessHet=0;FS=38.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=0.014;SOR=4.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:93:.:.:0,93,1395:.	9	0	1	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R,COL6A5:NM_153264:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	180.48	36	chr3	130421334	.	G	C	180.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.689;DP=368;ExcessHet=0.7463;FS=106.729;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.653;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:60:.:.:0,60,591:.	9	0	1	0
chr3	130421334	130421334	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011A:p.G1671R,COL6A5:NM_153264:exon27:c.G5011A:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.167558637625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.152e-07	6.84e-07	1.411e-06	0	9.276e-07	0	0	.	.	0	0	0	0	0	0	9.276e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.98446536	0.98642	D	0.167559	0.84589	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209801654965	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521075	0.94919	D	0.510712	0.94844	D	0.997662782669067	0.92113	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.385729	0.90245	31	0.99767051097524262	0.85583	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	180.48	36	chr3	130421334	.	G	A	180.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.689;DP=368;ExcessHet=0.7463;FS=106.729;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.653;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:60:.:.:0,60,591:.	9	0	1	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	180.48	36	chr3	130421334	.	G	*	180.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.689;DP=368;ExcessHet=0.7463;FS=106.729;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.653;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:25,0:25:60:.:.:0,60,591:.	9	0	1	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1438.56	46	chr3	130421335	.	G	A	1438.56	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:14,0:14:0:.:.:0,0,132:.	3	0	4	3
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1438.56	46	chr3	130421335	.	G	C	1438.56	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:14,0:14:0:.:.:0,0,132:.	5	0	2	3
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1438.56	46	chr3	130421335	.	G	*	1438.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:14,0:14:0:.:.:0,0,132:.	6	0	1	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1438.09	47	chr3	130421337	.	T	C	1438.09	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,188:.	1	0	6	3
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1438.09	47	chr3	130421337	.	T	*	1438.09	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,188:.	6	0	1	3
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10,COL6A5:NM_153264:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	448.28	47	chr3	130421338	.	T	TCACC	448.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.125;DP=412;ExcessHet=1.8123;FS=263.306;InbreedingCoeff=-0.4709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.411;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:15,0:15:0:.:.:0,0,188:.	5	0	1	4
chr3	130431639	130431639	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon33:c.C5423T:p.S1808L,COL6A5:NM_153264:exon33:c.C5423T:p.S1808L	.	424	1088	9	1	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00509935564762	.	0.000399361	0.0006	0	0.0024	0	0	0.0012	0	0	0.0001488	23	154602	rs190589491	0.0003	0.0003	0.0003	0.0003	0.0026	0.0003	0.0003	0.0016	0.0013	0.0003	0.0013	0.0040	0	2.029e-05	0.0026	0.0002	0.0008	6.311e-05	0.0006	0.0006	0.0005	0.0007	0.0031	0.0005	0.0005	0.0024	0.0022	7.222e-05	0	0.0031	0.0037	0	0	0.0034	0.0003	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.227	0.25499	-1.0745	0.08452	T	0.061	0.25310	T	9	0.008110225	0.00184	T	0.005099	0.12939	T	0.127	0.34888	.	.	0.458013479912	0.45428	0.43176799453499254	0.43093	0.0380857293076	0.04044	0.38089299202	0.22383	T	0.204994	0.56392	T	-0.32302	0.06654	T	-0.266852	0.48137	T	0.0700507442460393	0.08658	T	0.734627	0.35069	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20819	B	.	.	2.729505	0.35726	19.97	0.98996122607424919	0.50044	0.12116	0.17069	N	AEFBI	0.149072	0.27309	N	-0.228977574637814	0.31949	1.796715	-0.370033266689498	0.25895	1.426922	0.00433948822525192	0.10505	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.64	3.85	0.43556	0.907000	0.28154	2.190000	0.31200	0.599000	0.40250	0.000000	0.06391	0.871000	0.27593	0.103000	0.18424	0.0:0.7057:0.1404:0.1538	7.152	0.24790	369	0.84396	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2281.43	33	chr3	130431639	.	C	T	2281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.319;DP=500;ExcessHet=0;FS=0.575;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=0.431;SOR=0.756	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,111,1665	9	0	1	0
chr3	130440227	130440227	T	G	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon35:c.T5889G:p.D1963E,COL6A5:NM_153264:exon35:c.T5889G:p.D1963E	.	424	1093	5	0	0	5	0.00228206	.	.	.	2327914	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0134270529388	0.0003	.	0.0004	0	0.0005	0	0	0.0005	0	0.0001	0.000304	47	154602	rs199671434	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0029	0.0024	5.977e-05	0.0001	0.0031	0	1.875e-05	0.0042	0.0002	0.0006	0.0001	0.0002	0.0002	0.0001	0.0003	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	6.55e-05	0.0017	0	9.407e-05	0.0032	0.0003	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	0.000742	0.42006	D	0.000000	0.987727	0.24487	N	.	.	.	2.52	0.14160	T	0.3	0.04091	N	0.809	0.80473	0.337	0.88131	D	0.839	0.94610	D	10	0.3644542	0.52990	T	0.013427	0.32827	T	0.683	0.88396	.	.	0.187945064343	0.18414	0.5245235958826039	0.52376	0.237101060126	0.26249	0.493866115808	0.37975	T	0.153834	0.49485	T	-0.259966	0.12904	T	-0.298821	0.44848	T	0.121479484448935	0.14574	T	0.712729	0.32446	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.903	0.82925	P	.	.	2.600983	0.33759	19.43	0.90361770313002432	0.19625	0.66784	0.33199	D	AEFBI	0.217934	0.34300	N	0.238034878260668	0.53050	3.475742	0.0980241193923051	0.44451	2.726487	0.00485022951396642	0.10735	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	0.391	0.15506	0.752000	0.26027	-0.841000	0.07217	0.665000	0.62972	0.780000	0.29473	0.006000	0.19429	0.790000	0.37311	0.0:0.4557:0.0:0.5443	10.098	0.41659	369	0.84396	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.002924	0.000000	0.008621	0.003049	0.003788	0.05	1404.43	36	chr3	130440227	.	T	G	1404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.863;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.064;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	9	0	1	0
chr3	130565072	130565072	A	G	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon3:c.A740G:p.Y247C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	0.0341706164559	0.0003	0.000399361	0.0001	0.0007	0	0	0	1.5e-05	0	0.0003	0.0001035	16	154602	rs187765736	8.484e-05	8.482e-05	6.807e-05	0.0001	0.0005	7.21e-05	6.797e-05	0.0004	0.0004	0.0004	0	0	0	0	0.0003	4.857e-05	0.0001	0.0005	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.695e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0.0009	0.0002	0.162	0.23541	T	0.002	0.79402	D	0.828	0.46021	P	0.52	0.48197	P	0.356386	0.13737	N	0.662431	1	0.08975	N	2.585	0.75554	M	-1.7	0.83072	D	-2.66	0.56945	D	0.381	0.42247	-0.5496	0.66802	T	0.432	0.77355	T	10	0.09465328	0.16848	T	0.034171	0.55491	D	0.396	0.71084	.	.	0.260249123532	0.25628	0.4042719208634835	0.40343	0.27678225461	0.30148	0.352663248777	0.18313	T	0.210184	0.57060	T	-0.258224	0.13108	T	-0.254664	0.49354	T	0.10632034801284	0.13039	T	0.678032	0.28700	T	0.31761444	0.54437	0.28182268	0.54166	0.31761444	0.54437	0.28182268	0.54165	-7.044	0.54354	T	.	.	0.120	0.24733	B	.	.	1.385912	0.17977	13.48	0.79853184302477787	0.12930	0.22349	0.21716	N	AEFBI	0.145927	0.26926	N	-0.973294173072837	0.09177	0.4332482	-1.12853218820765	0.07159	0.3471937	1.33274751317059E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.09	-0.673	0.10802	0.421000	0.20999	2.369000	0.32418	-0.729000	0.03740	0.000000	0.06391	0.001000	0.17328	0.011000	0.09372	0.3174:0.3471:0.0:0.3354	6.766	0.22755	671	0.60868	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1156.43	34	chr3	130565072	.	A	G	1156.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.119;DP=399;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.465;SOR=0.409	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr3	130571225	130571225	C	T	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon6:c.C2809T:p.R937W	.	431	1084	7	0	0	7	0.00321839	.	.	.	438256	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.502	0.0780525447816	0.0033	0.000798722	0.0027	0.0009	0.0022	0	0.0014	0.0041	0.0034	0.0006	0.0006015	93	154602	rs111457392	0.0034	0.0034	0.0035	0.0032	0.0061	0.0033	0.0032	0.0045	0.0039	0.0010	0.0029	0.0024	0	0.0009	0.0061	0.0039	0.0031	0.0010	0.0022	0.0022	0.0022	0.0021	0.0050	0.0020	0.0019	0.0041	0.0037	0.0006	0	0.0050	0.0020	0	0.0009	0	0.0030	0.0024	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000067	0.52346	D	0.000000	1	0.08975	N	3.23	0.89537	M	-1.48	0.81150	T	-7.42	0.94814	D	0.759	0.75742	-0.1707	0.78411	T	0.630	0.87021	D	10	0.09041521	0.15750	T	0.078053	0.72915	D	0.502	0.78475	.	.	0.65729183307	0.65442	0.852140444280563	0.85176	0.352803517232	0.37101	0.565125703812	0.47990	T	0.538262	0.84143	D	-0.149589	0.28376	T	0.0146844	0.71286	D	0.104826968530216	0.12878	T	0.954105	0.82551	D	0.760357	0.81474	0.43731967	0.67155	0.760357	0.81476	0.43731967	0.67156	-10.675	0.77845	D	.	.	0.255	0.48998	B	.	.	3.833933	0.55435	23.6	0.99891192713163335	0.96513	0.09176	0.14984	N	AEFBI	0.406518	0.47897	N	0.139886643783906	0.48332	3.046928	-0.0528989722998284	0.37364	2.186816	1.17220063802798E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	-0.348	0.11987	-0.020000	0.12466	-0.580000	0.08381	0.599000	0.40250	0.206000	0.24378	0.004000	0.18990	0.519000	0.29452	0.682:0.2126:0.1054:0.0	9.841	0.40164	597	0.68309	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002518	0.005051	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1778.43	38	chr3	130571225	.	C	T	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=480;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.531;SOR=0.782	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr3	131382112	131382112	C	G	exonic	NUDT16	.	nonsynonymous SNV	NUDT16:NM_001171905:exon2:c.C67G:p.L23V,NUDT16:NM_001171906:exon2:c.C205G:p.L69V,NUDT16:NM_152395:exon2:c.C205G:p.L69V	.	431	1084	6	1	0	8	0.00367647	.	.	.	708579	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0078	0.00359425	0.0077	0.0020	0.0042	0	0.0079	0.0111	0.0071	0.0043	0.0075678	1170	154602	rs150437674	0.0100	0.0100	0.0102	0.0098	0.0113	0.0099	0.0098	0.0111	0.0110	0.0016	0.0049	0.0162	2.525e-05	0.0095	0.0031	0.0113	0.0088	0.0041	0.0071	0.0071	0.0076	0.0066	0.0106	0.0068	0.0066	0.0100	0.0097	0.0021	0.0088	0.0058	0.0161	0	0.0087	0.0136	0.0106	0.0052	0.0041	0.074	0.37750	T	0.01	0.69154	D	1.0	0.90584	D	0.997	0.86255	D	0.001074	0.40389	N	0.105878	0.99155	0.44063	D	1.805	0.47535	L	3.12	0.19726	T	-2.23	0.52451	N	0.552	0.57775	-1.1243	0.02076	T	0.058	0.24354	T	10	0.007732898	0.00176	T	.	.	.	0.092	0.26621	.	.	0.261217442401	0.25729	0.7443446148493671	0.74380	1.27310340077	0.82332	0.732468962669	0.71867	T	0.011685	0.10390	T	-0.552145	0.00283	T	-0.554863	0.16861	T	0.0124549675384815	0.00205	T	0.925707	0.74696	D	0.4506067	0.64079	0.1936274	0.42942	0.4506067	0.64080	0.1936274	0.42941	-7.338	0.59920	T	.	.	0.182	0.54646	B	.;.;.	.;.;.	3.910572	0.57021	23.8	0.99655861537948243	0.77631	0.79170	0.39181	D	AEFDGBHCI	0.314781	0.41954	N	0.23238901767712	0.52774	3.449558	0.147035585226228	0.46984	2.935704	0.999999999998535	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	3.63	1.8	0.24069	1.852000	0.38988	3.149000	0.36517	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.966000	0.53164	0.0:0.7748:0.0:0.2252	7.342	0.25817	858	0.34001	.;NUDIX hydrolase domain|NUDIX hydrolase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.015152	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1390.43	37	chr3	131382112	.	C	G	1390.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.723;DP=471;ExcessHet=0;FS=2.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.439;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1015	9	0	1	0
chr3	131462839	131462839	C	T	exonic	MRPL3	.	nonsynonymous SNV	MRPL3:NM_007208:exon10:c.G931A:p.G311S	Combined oxidative phosphorylation deficiency 9, Autosomal recessive	0	1483	37	2	0	41	0.0136349	.	.	.	361444	MRPL3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.002	0.00314387884353	0.0035	0.00279553	0.0038	0.0012	0.0038	0.0001	0.0006	0.0050	0.0099	0.0031	0.0036093	558	154602	rs148679749	0.0034	0.0034	0.0032	0.0035	0.0113	0.0033	0.0032	0.0091	0.0083	0.0010	0.0031	0.0029	2.526e-05	0.0013	0.0113	0.0036	0.0037	0.0040	0.0031	0.0031	0.0031	0.0031	0.0050	0.0029	0.0028	0.0045	0.0044	0.0008	0	0.0037	0.0029	0	0.0002	0.0136	0.0050	0.0057	0.0037	0.788	0.03642	T	0.735	0.05072	T	0.0	0.09854	B	0.001	0.04355	B	0.909251	0.08565	N	0.961828	1	0.08975	N	-1.15	0.00907	N	1.03	0.40469	T	1.52	0.00719	N	0.083	0.09207	-0.9917	0.32167	T	0.015	0.05946	T	10	0.0067156255	0.00152	T	0.003144	0.06845	T	0.017	0.02790	.	.	0.65303778533	0.65014	0.2228443256438723	0.22199	0.0657605408263	0.07340	0.321589320898	0.13662	T	0.013901	0.11938	T	-0.577776	0.00199	T	-0.598986	0.12897	T	0.00196668566367264	0.00020	T	0.294271	0.05429	T	0.06487237	0.13809	0.037524298	0.03422	0.08629366	0.20052	0.041416664	0.04701	-2.296	0.04533	T	0.046333162862433	0.00630	0.079	0.07412	B	.;.	.;.	0.405654	0.07765	4.453	0.55205899206743336	0.05294	0.02737	0.07411	N	AEFBI	0.075076	0.15067	N	-1.11238720123199	0.06421	0.2955541	-1.20970494867536	0.05753	0.2750065	0.0407881398341368	0.14455	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	-4.62	0.03129	-0.237000	0.09007	1.158000	0.24531	-0.157000	0.11712	0.000000	0.06391	0.064000	0.22093	0.151000	0.20341	0.2997:0.4345:0.0722:0.1935	3.796	0.08254	898	0.25240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010595	0.010204	0.010870	0.002924	0.050000	0.000000	0.018405	0.011364	0.05	709.43	35	chr3	131462839	.	C	T	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=392;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=-0.158;SOR=1.002	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1040	9	0	1	0
chr3	131498181	131498181	G	A	exonic	MRPL3	.	nonsynonymous SNV	MRPL3:NM_007208:exon4:c.C466T:p.R156C	Combined oxidative phosphorylation deficiency 9, Autosomal recessive	.	.	.	.	.	.	.	0.0365	0.23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0191709349317	7.7e-05	0.000199681	1.654e-05	0	0	0	0	3.009e-05	0	0	1.94e-05	3	154602	rs377532148	1.323e-05	1.437e-05	9.718e-06	1.676e-05	2.245e-05	8.46e-06	6.82e-06	6.66e-06	5.13e-06	0	2.245e-05	0.0001	0	1.875e-05	0	1.194e-05	1.68e-05	0	1.314e-05	1.313e-05	2.572e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.161	0.24564	T	0.17	0.30436	T	0.001	0.09854	B	0.002	0.18783	B	0.810146	0.06822	N	1.079600	1	0.08975	N	1.68	0.43186	L	0.94	0.43672	T	-1.12	0.28906	N	0.275	0.33030	-0.8758	0.50090	T	0.147	0.47201	T	10	0.091334134	0.15991	T	0.019171	0.41459	T	0.100	0.28662	.	.	0.716395873979	0.71390	0.40988900188175675	0.40904	0.0895148867953	0.10113	0.211817622185	0.00891	T	0.083334	0.37031	T	-0.217623	0.18319	T	-0.467511	0.25784	T	0.0326574704674471	0.02414	T	0.728627	0.34690	T	0.18802798	0.40283	0.092134714	0.21697	0.18802798	0.40283	0.092134714	0.21697	-6.061	0.46786	T	0.2602726813606049	0.35150	0.093	0.35372	B	.;.;.	.;.;.	2.261518	0.28895	17.95	0.78051962702274447	0.12135	0.02779	0.07484	N	AEFBI	0.043922	0.07004	N	-0.5876864898071	0.19317	1.010078	-0.878069367455083	0.12614	0.6498922	0.989113344680067	0.31727	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.96	-4.98	0.02794	0.361000	0.20003	0.568000	0.19578	-0.106000	0.15538	0.013000	0.18845	0.015000	0.20450	0.247000	0.23184	0.7485:0.0:0.2515:0.0	14.566	0.67771	879	0.29470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1412.43	33	chr3	131498181	.	G	A	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.653;DP=425;ExcessHet=0;FS=4.745;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.843;SOR=0.791	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1240	9	0	1	0
chr3	132619485	132619485	C	G	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.G1258C:p.V420L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.145422972176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.389e-06	1.368e-06	1.381e-06	1.397e-06	1.813e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.813e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.03555	T	0.718	0.12491	T	0.004	0.12183	B	0.009	0.14300	B	.	.	.	.	0.999985	0.81001	D	1.05	0.26816	L	-5.16	0.98796	D	-0.43	0.14390	N	0.504	0.53620	0.715	0.93363	D	0.869	0.95647	D	9	0.24896997	0.42202	T	0.145423	0.82761	D	0.429	0.73590	0.621	0.75576	0.849746914196	0.84830	0.5142291416957646	0.51345	0.147862766513	0.16680	.	.	.	0.302782	0.67517	T	0.299908	0.82961	D	0.193021	0.82740	D	0.203781465782972	0.20623	T	0.889011	0.61998	D	0.43031567	0.62772	0.5117404	0.71786	0.43031567	0.62773	0.5117404	0.71786	-4.395	0.29489	T	.	.	0.109	0.29367	B	.;.	.;.	1.998301	0.25390	16.74	0.92238892078561485	0.21617	0.93316	0.57891	D	AEFBI	0.511455	0.54008	D	-0.162857489431731	0.34688	1.983079	0.0711905239419617	0.43107	2.619413	0.999984011997123	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	5.82	0.92740	2.287000	0.43166	1.451000	0.26606	0.599000	0.40250	0.972000	0.34453	0.334000	0.24388	0.998000	0.85391	0.0:1.0:0.0:0.0	18.868	0.92271	845	0.36510	Acyl-CoA dehydrogenase/oxidase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	909.43	34	chr3	132619485	.	C	G	909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.9;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	9	0	1	0
chr3	132619490	132619490	G	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon10:c.C1253G:p.P418R	.	527	990	4	1	0	6	0.00302115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.735	.	0.0003	0.00259585	0.0019	9.69e-05	0.0010	0	0	0.0006	0.0056	0.0101	0.0016753	259	154602	rs148899232	0.0008	0.0009	0.0005	0.0010	0.0106	0.0008	0.0007	0.0084	0.0077	0.0004	0.0011	0.0008	2.592e-05	0	0.0106	0.0002	0.0013	0.0082	0.0008	0.0008	0.0005	0.0012	0.0100	0.0007	0.0007	0.0077	0.0069	0.0001	0	0.0023	0.0003	0	0	0.0102	0.0005	0.0014	0.0100	0.087	0.43085	T	0.109	0.37449	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999913	0.81001	D	3.43	0.92015	M	-6.42	0.99687	D	-4.2	0.75695	D	0.72	0.72209	1.049	0.98105	D	0.985	0.99561	D	9	0.00976187	0.00219	T	.	.	.	0.735	0.90764	.	.	0.987481040417	0.98734	0.7004209777693364	0.69983	0.641984679815	0.57776	.	.	.	0.62002	0.88076	D	0.0493975	0.58265	T	0.302745	0.88321	D	0.159044825812494	0.17801	T	0.765923	0.39447	T	0.6625053	0.76033	0.6638716	0.80295	0.6625053	0.76034	0.6638716	0.80296	-7.753	0.59375	D	.	.	0.372	0.64449	A	.;.	.;.	4.374519	0.67375	25.1	0.99674530769926195	0.78846	0.93991	0.59785	D	AEFGBI	0.620963	0.60583	D	0.616820060762509	0.74236	6.098817	0.583016148027399	0.73721	6.017323	0.985536609772924	0.30904	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.92	0.64147	5.228000	0.65139	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8558:0.1442	14.945	0.70675	845	0.36510	Acyl-CoA dehydrogenase/oxidase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.012085	0.015152	0.006793	0.020468	0.000000	0.008621	0.015244	0.018939	0.05	386.43	34	chr3	132619490	.	G	C	386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.13;DP=368;ExcessHet=0;FS=3.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=-0.649;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1027	9	0	1	0
chr3	133811157	133811157	G	C	exonic	SRPRB	.	nonsynonymous SNV	SRPRB:NM_001379313:exon4:c.G368C:p.S123T,SRPRB:NM_021203:exon5:c.G368C:p.S123T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.016642363189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	0.054	0.47097	T	0.942	0.52977	P	0.644	0.52249	P	0.000026	0.55875	D	0.155855	1	0.81001	D	2.305	0.65957	M	2.48	0.14657	T	-1.32	0.32991	N	0.492	0.52563	-1.1749	0.00450	T	0.063	0.26279	T	10	0.5695572	0.65242	D	0.016642	0.37992	T	0.158	0.41098	0.531	0.63855	0.700125190599	0.69753	0.5778745801934572	0.57716	0.287765702557	0.31178	0.546562790871	0.45372	T	0.044418	0.26811	T	-0.000832996	0.51538	T	-0.238973	0.50899	T	0.659820669470881	0.38888	D	0.668433	0.27736	T	0.10739064	0.25393	0.16899224	0.38901	0.10739064	0.25393	0.16899224	0.38900	-7.988	0.60989	D	.	.	0.221	0.45161	B	.	.	4.407465	0.68149	25.2	0.98109481766435624	0.38343	0.99441	0.96068	D	AEFBI	0.873379	0.79571	D	0.636013805060949	0.75467	6.31093	0.666844554068866	0.79870	7.174737	0.999999999997681	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.265000	0.77842	9.797000	0.81675	-0.111000	0.15049	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.271	0.93996	817	0.41665	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	177.65	36	chr3	133811157	.	G	C	177.65	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.617;DP=654;ExcessHet=0.2348;FS=228.829;InbreedingCoeff=-0.129;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.17;SOR=8.121	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	8	0	2	0
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	278.94	82	chr3	133947398	.	T	C	278.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.818;DP=688;ExcessHet=0.7463;FS=151.401;InbreedingCoeff=-0.2079;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=0.194;SOR=9.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,19:82:1:.:.:0,1,1224:.	7	0	3	0
chr3	134370916	134370916	C	T	exonic	AMOTL2	.	nonsynonymous SNV	AMOTL2:NM_001278683:exon2:c.G692A:p.R231Q,AMOTL2:NM_001278685:exon2:c.G518A:p.R173Q,AMOTL2:NM_001363943:exon2:c.G518A:p.R173Q,AMOTL2:NM_016201:exon2:c.G518A:p.R173Q	.	383	1126	12	1	0	14	0.00617829	.	.	.	697852	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.066	.	0.0079	0.00479233	0.0088	0.0020	0.0149	0.0003	0.0121	0.0091	0.0107	0.0098	0.0079236	1225	154602	rs143351962	0.0094	0.0094	0.0095	0.0093	0.0133	0.0092	0.0092	0.0124	0.0121	0.0018	0.0133	0.0010	0.0003	0.0112	0.0096	0.0101	0.0076	0.0081	0.0076	0.0076	0.0076	0.0076	0.0112	0.0072	0.0071	0.0105	0.0102	0.0017	0.0077	0.0097	0.0006	0.0004	0.0112	0.0068	0.0112	0.0033	0.0085	0.007	0.63226	D	0.161	0.65728	T	0.876	0.48154	P	0.176	0.35644	B	0.040699	0.24030	N	0.445315	0.599275	0.30954	N	0.205	0.09354	N	2.53	0.14038	T	-0.77	0.22727	N	0.288	0.36779	-1.0636	0.10878	T	0.009	0.03183	T	10	0.003624171	0.00066	T	.	.	.	0.066	0.19193	.	.	0.348764635752	0.34483	0.24350740480917024	0.24264	0.656460946308	0.58643	0.410059809685	0.26465	T	0.005554	0.05002	T	-0.592881	0.00161	T	-0.609473	0.12027	T	0.0415794078900116	0.03978	T	0.894111	0.63286	D	0.16526362	0.36787	0.07458039	0.16329	0.16526362	0.36786	0.07458039	0.16329	-7.108	0.55746	T	.	.	0.093	0.21913	B	.;.;.;.;.	.;.;.;.;.	5.088022	0.84947	28.5	0.99945897744011702	0.99901	0.52048	0.29039	D	AEFDBCI	0.161770	0.28786	N	-0.053959694986486	0.39426	2.324796	0.00618762254580807	0.40002	2.380421	0.999999994853745	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.657601	0.63696	0	.	.	4.52	3.36	0.37579	3.208000	0.50816	5.294000	0.48217	0.524000	0.24156	0.998000	0.41325	1.000000	0.68203	0.964000	0.52637	0.0:0.5868:0.0:0.4132	3.329	0.06664	767	0.49651	.;.;.;.;.	.	.	.	.	rs143351962	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005040	0.000000	0.002717	0.000000	0.000000	0.025862	0.006098	0.011364	0.05	788.43	38	chr3	134370916	.	C	T	788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=374;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.59;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	9	0	1	0
chr3	138131010	138131010	C	G	exonic	A4GNT	.	nonsynonymous SNV	A4GNT:NM_016161:exon2:c.G247C:p.V83L	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0802572324512	.	0.000199681	4.942e-05	0	0	0	0	2.997e-05	0	0.0002	4.53e-05	7	154602	rs540482278	6.156e-06	6.84e-06	4.084e-06	8.25e-06	0.0002	2.9e-06	2.1e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	2.698e-06	0	5.797e-05	6.568e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.082	0.41573	T	0.961	0.55431	D	0.658	0.52749	P	0.137901	0.18397	N	0.462884	1	0.08975	N	3.125	0.87999	M	-1.46	0.80983	T	-2.21	0.49684	N	0.443	0.48134	-0.5261	0.67688	T	0.449	0.78390	T	10	0.584348	0.66026	D	0.080257	0.73420	D	0.359	0.67962	0.792	0.91365	0.426039362998	0.42221	0.6724928103494722	0.67187	0.484552586258	0.47362	0.32797896862	0.14629	T	0.102597	0.41048	T	-0.156592	0.27285	T	-0.203031	0.54359	T	0.63013881444931	0.37624	D	0.847515	0.52873	T	0.1488196	0.33957	0.100270666	0.23970	0.1488196	0.33957	0.100270666	0.23969	-7.642	0.58604	D	.	.	0.448	0.62122	A	.	.	2.434904	0.31330	18.71	0.99017595035228401	0.50505	0.15492	0.18938	N	AEFDBI	0.115080	0.22642	N	-0.189135075957673	0.33587	1.90712	-0.344858451641945	0.26668	1.474532	0.00962908389145398	0.11886	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.27	3.09	0.34677	0.931000	0.28471	1.664000	0.27916	0.599000	0.40250	0.417000	0.26305	0.923000	0.28366	0.029000	0.12982	0.0:0.6945:0.0:0.3055	8.264	0.30966	572	0.70300	Glycosyltransferase, DXD sugar-binding motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1030.43	33	chr3	138131010	.	C	G	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.19;DP=395;ExcessHet=0;FS=5.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.127;SOR=1.237	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	9	0	1	0
chr3	138684790	138684790	T	C	exonic	PIK3CB	.	nonsynonymous SNV	PIK3CB:NM_001256045:exon6:c.A686G:p.N229S,PIK3CB:NM_006219:exon17:c.A2150G:p.N717S	.	426	1083	12	1	0	14	0.00642202	.	.	.	720210	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.0159663619193	0.0007	0.00119808	0.0017	0.0003	0.0010	0	0	0.0013	0.0034	0.0060	0.0014295	221	154602	rs74701669	0.0011	0.0011	0.0009	0.0013	0.0094	0.0011	0.0010	0.0074	0.0067	0.0005	0.0013	0.0095	2.52e-05	1.873e-05	0.0094	0.0006	0.0020	0.0053	0.0010	0.0010	0.0009	0.0011	0.0046	0.0009	0.0008	0.0031	0.0026	0.0003	0	0.0010	0.0127	0	0	0.0102	0.0008	0.0019	0.0046	0.681	0.09776	T	0.487	0.11656	T	0.007	0.14184	B	0.013	0.16460	B	0.000000	0.84330	D	0.055008	0.999995	0.58761	D	1.2	0.30300	L	-1.4	0.80474	T	-1.23	0.37759	N	0.116	0.10483	-0.6587	0.62333	T	0.300	0.67157	T	10	0.009204358	0.00208	T	0.015966	0.36990	T	0.294	0.61388	.	.	0.382607109125	0.37878	0.062173149661151304	0.06157	0.395795623971	0.40707	0.562058925629	0.47558	T	0.381113	0.74350	T	-0.471124	0.00836	T	-0.447871	0.27933	T	0.0133927743567062	0.00242	T	0.746125	0.53946	T	0.16062127	0.36015	0.23222423	0.48377	0.16062127	0.36014	0.23222423	0.48376	-7.197	0.55460	T	.	.	0.068	0.04806	B	.;.;.	.;.;.	2.383321	0.30594	18.49	0.93789062271410251	0.23751	0.90529	0.51780	D	AEFBI	0.317922	0.42178	N	-0.238463717294922	0.31567	1.771306	-0.00289457022091924	0.39586	2.349295	0.999999331985756	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	1.947000	0.39919	6.176000	0.54561	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.099	0.80961	868	0.31772	PI3Kbeta, catalytic domain;PI3Kbeta, catalytic domain;PI3Kbeta, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009577	0.010101	0.005435	0.017544	0.050000	0.008621	0.012270	0.015152	0.05	407.43	35	chr3	138684790	.	T	C	407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.21;DP=279;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.323;SOR=0.382	GT:AD:DP:GQ:PL	0/1:14,18:32:99:419,0,377	9	0	1	0
chr3	140448648	140448648	T	A	exonic	CLSTN2	.	nonsynonymous SNV	CLSTN2:NM_022131:exon6:c.T917A:p.I306N	.	425	1091	6	0	0	6	0.00274223	.	.	.	697859	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.493	0.0978105766652	0.0048	0.00239617	0.0033	0.0016	0.0015	0	0.0014	0.0047	0.0022	0.0024	0.0034282	530	154602	rs41265459	0.0054	0.0054	0.0055	0.0053	0.0063	0.0053	0.0053	0.0062	0.0062	0.0010	0.0014	0.0081	0	0.0016	0.0040	0.0063	0.0039	0.0022	0.0036	0.0036	0.0039	0.0033	0.0057	0.0033	0.0032	0.0052	0.0050	0.0014	0.0033	0.0024	0.0109	0	0.0009	0	0.0057	0.0043	0.0015	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.896	0.63555	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	0.72	0.50976	T	-5.71	0.87457	D	0.914	0.91621	-0.3619	0.73207	T	0.248	0.61751	T	10	0.033489287	0.01527	T	0.097811	0.76836	D	0.493	0.77910	.	.	0.895227171874	0.89419	0.7803292918744039	0.77983	0.966996163592	0.73223	0.712702155113	0.68984	T	0.696357	0.91217	D	-0.172031	0.24929	T	-0.0165804	0.69254	D	0.0299720670178695	0.01985	T	0.979902	0.93196	D	0.8626946	0.88291	0.75548524	0.85550	0.8626946	0.88292	0.75548524	0.85550	-13.688	0.91999	D	.	.	0.726	0.74038	P	.	.	5.029218	0.83633	28.1	0.99418079785669466	0.63645	0.98108	0.79665	D	AEFBI	0.932384	0.92266	D	0.796845758482005	0.85907	8.718929	0.737815365233439	0.85245	8.523132	0.999999984462586	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	8.017000	0.88732	7.846000	0.70742	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:0.0:1.0	13.034	0.58269	829	0.39537	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002018	0.010101	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1485.43	38	chr3	140448648	.	T	A	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.342;DP=426;ExcessHet=0;FS=2.508;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.518;SOR=0.47	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	9	0	1	0
chr3	140688048	140688048	G	A	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon3:c.G1366A:p.G456S	.	417	1078	25	2	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0048	0.00638978	0.0037	0.0105	0.0060	0.0001	0.0002	0.0031	0.0088	0.0028	0.0035834	554	154602	rs112034444	0.0024	0.0024	0.0024	0.0025	0.0288	0.0024	0.0023	0.0252	0.0238	0.0114	0.0064	0.0086	0	0.0002	0.0288	0.0017	0.0050	0.0030	0.0055	0.0055	0.0051	0.0059	0.0122	0.0052	0.0051	0.0107	0.0102	0.0103	0	0.0122	0.0084	0	9.439e-05	0.0408	0.0022	0.0085	0.0021	0.455	0.08865	T	0.525	0.10281	T	0.999	0.77913	D	0.818	0.58969	P	0.001630	0.38439	N	0.184523	0.832758	0.34943	D	1.43	0.35840	L	1.23	0.36872	T	0.56	0.02680	N	0.467	0.50327	-1.0851	0.06389	T	0.047	0.20116	T	10	0.0067242086	0.00153	T	.	.	.	0.186	0.46104	.	.	0.455265801863	0.45150	0.5165162350994309	0.51574	0.304077983774	0.32727	0.438456535339	0.30367	T	2.65E-4	0.00060	T	-0.387759	0.02781	T	-0.321804	0.42377	T	0.0360879731912394	0.02997	T	0.817618	0.47476	T	0.05190391	0.09602	0.087241255	0.20267	0.05190391	0.09601	0.087241255	0.20266	-2.38	0.05012	T	.	.	0.152	0.33619	B	.	.	2.876104	0.38048	20.6	0.95045804973693093	0.26056	0.82503	0.41721	D	AEFDI	0.166689	0.29330	N	0.24189076939408	0.53240	3.493742	0.25163332949671	0.52742	3.447057	0.00190099085466403	0.08984	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.75	0.59954	2.651000	0.46338	8.629000	0.77845	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.018000	0.11154	0.0915:0.0:0.9085:0.0	9.795	0.39896	549	0.72275	COS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.038268	0.065657	0.055707	0.032164	0.000000	0.034483	0.009146	0.026515	0.05	2260.43	35	chr3	140688048	.	G	A	2260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.811;DP=519;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.031;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr3	141444232	141444232	C	T	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376166:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376176:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376180:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376183:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376188:exon3:c.C1844T:p.T615M,ZBTB38:NM_001350100:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376119:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376127:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376152:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376157:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376162:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376163:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376168:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376172:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376175:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376179:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376181:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376184:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376185:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376186:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376187:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376189:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376190:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376115:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376120:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376126:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376128:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376142:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376158:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376159:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376165:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376167:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376169:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376170:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376171:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376173:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376174:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376177:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376178:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376182:exon5:c.C1844T:p.T615M,ZBTB38:NM_001350099:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376113:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376116:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376125:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376143:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376150:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376160:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376161:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376112:exon7:c.C1844T:p.T615M,ZBTB38:NM_001376114:exon7:c.C1844T:p.T615M,ZBTB38:NM_001376117:exon7:c.C1844T:p.T615M,ZBTB38:NM_001376118:exon7:c.C1844T:p.T615M,ZBTB38:NM_001080412:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376121:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376122:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376123:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376124:exon8:c.C1844T:p.T615M	.	430	1073	19	0	0	19	0.00877598	.	.	.	2824982	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0061	0.00479233	0.0058	0.0014	0.0064	0	0.0017	0.0085	0.0089	0.0013	0.0060866	941	154602	rs17787670	0.0078	0.0078	0.0080	0.0076	0.0196	0.0077	0.0076	0.0167	0.0156	0.0015	0.0074	0.0049	7.557e-05	0.0024	0.0196	0.0091	0.0084	0.0012	0.0063	0.0063	0.0065	0.0061	0.0110	0.0060	0.0058	0.0096	0.0091	0.0019	0	0.0110	0.0040	0	0.0013	0.0238	0.0096	0.0114	0.0006	0.048	0.40068	D	0.174	0.31730	T	0.798	0.44840	P	0.265	0.39681	B	0.737373	0.09805	N	0.887861	1	0.08975	N	2.015	0.55033	M	3.49	0.09075	T	-0.62	0.18248	N	0.193	0.24883	-1.0148	0.25400	T	0.016	0.06711	T	9	0.0034246743	0.00060	T	.	.	.	0.023	0.04649	.	.	0.0675242888579	0.06100	0.32186124454401943	0.32099	0.516426358361	0.49530	0.247026950121	0.03461	T	0.019916	0.15779	T	-0.580448	0.00191	T	-0.597155	0.13050	T	0.00580921883566317	0.00064	T	0.794521	0.43681	T	0.019174555	0.00444	0.034373514	0.02492	0.019174555	0.00443	0.034373514	0.02491	-4.801	0.34603	T	.	.	0.084	0.14706	B	.;.;.;.;.;.	.;.;.;.;.;.	2.491262	0.32145	18.95	0.96655113128652481	0.30603	0.48697	0.28265	N	AEFBI	0.125465	0.24198	N	-0.411639768226223	0.25060	1.357627	-0.492924193327864	0.22347	1.213381	0.999915155512818	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.69	2.68	0.30839	1.201000	0.31866	2.181000	0.31130	0.599000	0.40250	0.000000	0.06391	0.009000	0.19889	0.177000	0.21203	0.0:0.6666:0.2614:0.0719	9.729	0.39514	821	0.40814	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.030303	0.032609	0.011696	0.000000	0.008621	0.009146	0.003788	0.05	1813.43	41	chr3	141444232	.	C	T	1813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.43;DP=508;ExcessHet=0;FS=2.666;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.072;SOR=0.908	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1289	9	0	1	0
chr3	141540573	141540573	C	T	exonic	RASA2	.	nonsynonymous SNV	RASA2:NM_001303245:exon5:c.C491T:p.T164M,RASA2:NM_001303246:exon5:c.C491T:p.T164M,RASA2:NM_006506:exon5:c.C491T:p.T164M	.	.	.	.	.	.	.	.	.	.	.	1466376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0905852459467	.	.	1.661e-05	0	0	0	0	1.51e-05	0	6.093e-05	1.29e-05	2	154602	rs752317451	1.986e-05	1.984e-05	2.044e-05	1.927e-05	0.0002	1.393e-05	1.205e-05	7.131e-05	5.487e-05	8.976e-05	0	0	2.527e-05	0	0.0002	1.17e-05	0	0.0001	1.973e-05	1.97e-05	2.571e-05	1.346e-05	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.005	0.63226	D	0.014	0.62352	D	.	.	.	.	.	.	0.000002	0.62929	D	0.099487	0.999664	0.48141	D	2.295	0.65404	M	-0.91	0.75001	T	-2.08	0.49684	N	0.704	0.71143	0.013	0.82514	D	0.517	0.81937	D	10	0.7293406	0.74190	D	0.090585	0.75547	D	0.340	0.66202	0.359	0.36222	0.913956948428	0.91309	0.4640061514660106	0.46319	0.862503557744	0.69024	0.728429913521	0.71276	T	0.312273	0.68410	T	-0.0808681	0.39574	T	-0.17241	0.57222	T	0.76174122095108	0.43951	D	0.941006	0.77964	D	.	.	.	.	.	.	.	.	-8.161	0.62162	D	.	.	0.117	0.26514	B	.;.	.;.	5.311381	0.89163	29.9	0.9982497483120647	0.90764	0.89634	0.50224	D	AEFGBI	0.460158	0.51046	N	0.610706741577545	0.73852	6.034113	0.596072956350132	0.74656	6.174616	0.999999725866146	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.87	4.99	0.65942	4.808000	0.62274	5.987000	0.52266	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1567:0.8433:0.0:0.0	13.513	0.60978	816	0.41767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1066.43	34	chr3	141540573	.	C	T	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.18;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=3.43;SOR=0.74	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1146	9	0	1	0
chr3	146459949	146459949	T	A	exonic	PLSCR2	.	nonsynonymous SNV	PLSCR2:NM_001199979:exon2:c.A163T:p.I55F,PLSCR2:NM_001199978:exon4:c.A175T:p.I59F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0019	0.00339457	0.0006	0.0072	8.804e-05	0	0	0	0	0	0.0006404	99	154602	rs149831493	0.0002	0.0002	0.0002	0.0002	0.0078	0.0002	0.0002	0.0070	0.0067	0.0078	0.0002	0	0	0	0.0002	3.597e-06	0.0005	2.319e-05	0.0017	0.0017	0.0018	0.0017	0.0062	0.0015	0.0015	0.0055	0.0053	0.0062	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.901	0.02418	T	0.706	0.05602	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	1.98	0.21865	T	1.15	0.01151	N	0.031	0.00770	-0.9737	0.36409	T	0.013	0.05273	T	9	0.006021172	0.00135	T	.	.	.	0.014	0.01968	.	.	0.144782658237	0.14088	0.08545393722551058	0.08479	0.315783590602	0.33856	0.417657464743	0.27515	T	0.002519	0.01914	T	-0.738614	0.00021	T	-0.830576	0.01252	T	0.00280420013172718	0.00029	T	0.474053	0.15352	T	0.030689118	0.02777	0.044176877	0.05666	0.030689118	0.02777	0.044176877	0.05665	-2.824	0.09345	T	.	.	0.048	0.00165	B	.;.	.;.	0.314580	0.06893	3.432	0.21187677234593669	0.00796	0.00030	0.00276	N	AEFGI	0.017446	0.00458	N	-1.30174850820024	0.03655	0.1636826	-1.33377336768829	0.04000	0.187811	0.0254046436096863	0.13646	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	3.55	0.958	0.18741	0.263000	0.18247	-5.077000	0.01859	-1.932000	0.00498	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4726:0.0:0.1148:0.4127	3.007	0.05665	881	0.29269	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	712.43	41	chr3	146459949	.	T	A	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=433;ExcessHet=0;FS=5.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.123;SOR=1.033	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,950	9	0	1	0
chr3	146593988	146593988	G	A	exonic	PLSCR5	.	stopgain	PLSCR5:NM_001085420:exon4:c.C385T:p.R129X,PLSCR5:NM_001321245:exon4:c.C349T:p.R117X	.	430	1070	21	1	0	23	0.0106334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00239617	0.0015	0.0001	0.0017	0	0	0.0007	0.0045	0.0064	0.0013519	209	154602	rs182408490	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0055	0.0053	0.0002	0.0015	0.0002	2.52e-05	0.0003	0.0066	0.0003	0.0017	0.0059	0.0007	0.0007	0.0006	0.0008	0.0075	0.0006	0.0006	0.0056	0.0049	9.636e-05	0	0.0016	0.0009	0	0	0.0102	0.0006	0	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.074	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296981	0.82723	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	8.835174	0.98089	38	0.99838237944328934	0.91886	0.97426	0.74675	D	AEFI	0.158187	0.28381	N	0.751397290095938	0.82997	7.902815	0.596829152603664	0.74710	6.183835	0.999999996134232	0.74766	0.568482	0.32641	0	0.573078	0.20572	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	3.291000	0.51470	3.296000	0.37344	0.676000	0.76740	0.970000	0.34288	0.985000	0.30750	0.927000	0.46353	0.0:0.0:1.0:0.0	19.822	0.96595	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.004076	0.000000	0.000000	0.008621	0.012195	0.011364	0.05	953.43	42	chr3	146593988	.	G	A	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.377;DP=387;ExcessHet=0;FS=0.989;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.595;SOR=0.511	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr3	147396245	147396245	C	G	exonic	ZIC4	.	nonsynonymous SNV	ZIC4:NM_001168378:exon3:c.G445C:p.G149R,ZIC4:NM_001168379:exon3:c.G409C:p.G137R,ZIC4:NM_032153:exon3:c.G295C:p.G99R	.	134	1355	33	0	0	33	0.0120306	.	.	.	2113997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0059	0.00519169	0.0071	0.0017	0.0040	0.0001	0.0157	0.0087	0.0084	0.0065	0.0067787	1048	154602	rs34676558	0.0081	0.0081	0.0080	0.0082	0.0113	0.0080	0.0079	0.0091	0.0083	0.0014	0.0042	0.0109	0	0.0149	0.0113	0.0085	0.0077	0.0068	0.0067	0.0067	0.0066	0.0069	0.0093	0.0064	0.0063	0.0087	0.0085	0.0020	0	0.0048	0.0112	0	0.0142	0	0.0093	0.0061	0.0070	0.007	0.78490	D	0.184	0.37872	T	0.994	0.66517	D	0.923	0.65830	D	0.000258	0.46924	D	0.000000	.	.	.	2.28	0.64929	M	0.97	0.42502	T	-3.96	0.74661	D	0.707	0.76203	-0.8022	0.55015	T	0.147	0.47129	T	10	0.0103960335	0.00232	T	.	.	.	0.269	0.58381	0.628	0.76366	0.799349794875	0.79747	0.6008591114934073	0.60016	1.56576822731	0.88110	0.708737492561	0.68410	T	0.577982	0.86135	D	-0.266311	0.12170	T	-0.145919	0.59604	T	0.0226727302625135	0.00985	T	0.967253	0.88140	D	0.3260748	0.55147	0.40053952	0.64588	0.3260748	0.55147	0.40053952	0.64588	-12.54	0.87381	D	.	.	0.627	0.70621	P	.;.;.;.;.;.	.;.;.;.;.;.	3.880911	0.56402	23.7	0.9988786241018941	0.96281	0.96824	0.71137	D	AEFDBHCI	0.809104	0.73270	D	0.604603678742957	0.73464	5.970528	0.573160142656645	0.73021	5.902948	0.999999943667802	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.98	4.98	0.65679	3.034000	0.49441	2.192000	0.31216	0.599000	0.40250	1.000000	0.71638	0.800000	0.26941	0.990000	0.65344	0.1613:0.7572:0.0:0.0816	7.852	0.28624	921	0.19240	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.025253	0.009511	0.023392	0.000000	0.008621	0.021341	0.003788	0.05	1976.43	33	chr3	147396245	.	C	G	1976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.578;DP=498;ExcessHet=0;FS=1.209;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.661;SOR=0.588	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr3	148834543	148834543	A	G	exonic	CPB1	.	nonsynonymous SNV	CPB1:NM_001871:exon3:c.A193G:p.S65G	.	431	1088	3	0	0	3	0.00137678	.	.	.	3198639	CPB1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.107	0.00754813595591	0.0032	0.00199681	0.0036	0.0011	0.0013	0	0.0026	0.0051	0	0.0035	0.0036222	560	154602	rs146504027	0.0043	0.0043	0.0043	0.0043	0.0048	0.0042	0.0041	0.0047	0.0046	0.0007	0.0010	0.0049	2.52e-05	0.0021	0.0009	0.0048	0.0044	0.0038	0.0029	0.0029	0.0032	0.0027	0.0050	0.0027	0.0026	0.0042	0.0040	0.0009	0	0.0022	0.0046	0.0002	0.0016	0	0.0046	0.0028	0.0050	0.331	0.42783	T	0.285	0.37173	T	0.299	0.32525	B	0.028	0.21332	B	0.077851	0.21079	N	0.564881	0.90347	0.27654	N	2.38	0.68558	M	2.53	0.14038	T	-2.15	0.51157	N	0.275	0.31140	-1.0697	0.09479	T	0.028	0.12190	T	10	0.006259382	0.00141	T	0.007548	0.20033	T	0.107	0.30369	.	.	0.502130797271	0.49849	0.6325481484252009	0.63188	0.227667183009	0.25318	0.302994430065	0.10848	T	0.05177	0.28972	T	-0.539895	0.00335	T	-0.54707	0.17607	T	0.0321980288459391	0.02339	T	0.521048	0.17685	T	0.1884533	0.40345	0.11964176	0.28876	0.1884533	0.40344	0.11964176	0.28875	-4.886	0.35577	T	.	.	0.103	0.18372	B	.;.;.;.	.;.;.;.	2.481685	0.32005	18.91	0.99110396250176813	0.52699	0.99328	0.94563	D	AEFI	0.818789	0.73996	D	-0.115588688387535	0.36712	2.125875	-0.00132011944924051	0.39658	2.354624	0.986795640517507	0.31127	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	6.344000	0.72941	8.123000	0.76630	0.677000	0.82338	1.000000	0.71638	0.988000	0.31051	0.128000	0.19490	1.0:0.0:0.0:0.0	14.734	0.69016	505	0.75648	Carboxypeptidase, activation peptide;Carboxypeptidase, activation peptide;Carboxypeptidase, activation peptide;Carboxypeptidase, activation peptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.008772	0.000000	0.000000	0.006098	0.003788	0.05	515.43	34	chr3	148834543	.	A	G	515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.879;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=-0.538;SOR=0.643	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,100,1376	9	0	1	0
chr3	148883651	148883651	C	T	exonic	CPA3	.	nonsynonymous SNV	CPA3:NM_001870:exon9:c.C817T:p.R273W	.	444	1077	1	0	0	1	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00672732692278	.	.	4.126e-05	0	0.0002	0	0	1.501e-05	0	0.0001	3.88e-05	6	154602	rs767770938	3.352e-05	3.352e-05	1.089e-05	5.638e-05	0.0004	2.566e-05	2.312e-05	0.0003	0.0003	2.988e-05	0	0	0	0	0	8.993e-06	1.656e-05	0.0004	3.94e-05	3.937e-05	2.57e-05	5.372e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0	0	0	2.941e-05	0	0.0008	0.004	0.65419	D	0.005	0.72224	D	0.997	0.70673	D	0.873	0.61978	P	0.000123	0.49741	N	0.176841	0.999941	0.19238	N	2.99	0.85699	M	2.58	0.13434	T	0.08	0.06026	N	0.176	0.18920	-1.1285	0.01855	T	0.046	0.19559	T	10	0.44305465	0.58223	T	0.006727	0.17784	T	0.188	0.46444	0.751	0.88155	0.295623431141	0.29171	0.49462316844897364	0.49383	0.122508711524	0.13806	0.230685651302	0.02019	T	0.195965	0.55220	T	-0.484453	0.00697	T	-0.611694	0.11847	T	0.761632025241852	0.43945	D	0.741926	0.36121	T	0.25920334	0.48973	0.13097544	0.31461	0.25920334	0.48973	0.13097544	0.31460	-9.933	0.73510	D	.	.	0.195	0.41678	B	.	.	0.983771	0.13613	10.15	0.95630914823619384	0.27413	0.00844	0.03380	N	AEFBI	0.085829	0.17401	N	-1.07221966635949	0.07158	0.3317207	-1.41958055830655	0.03056	0.1418555	0.999494509542803	0.40007	0.632932	0.41330	0	0.573888	0.26702	0	0.573888	0.23631	0	0.755437	0.99637	0	.	.	4.77	-9.53	0.00484	-0.838000	0.04480	-1.131000	0.06238	-1.244000	0.01310	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5054:0.1079:0.1621:0.2246	2.328	0.03969	545	0.72614	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase B, carboxypeptidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	606.43	34	chr3	148883651	.	C	T	606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.69;DP=373;ExcessHet=0;FS=3.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.334;SOR=0.352	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	9	0	1	0
chr3	149199792	149199792	C	A	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon8:c.G1421T:p.S474I	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	0.554742124436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.083670	1	0.81001	D	.	.	.	-5.73	0.99303	D	-5.2	0.84175	D	0.932	0.93723	1.040	0.97919	D	0.986	0.99568	D	10	0.9222348	0.91576	D	0.554742	0.95910	D	0.838	0.94914	0.523	0.62668	0.986592203821	0.98644	0.9189544463268836	0.91871	0.540615076507	0.51250	0.482210099697	0.36361	T	0.40248	0.75949	T	0.527111	0.95066	D	0.519382	0.94993	D	0.997239351272583	0.91078	D	0.840916	0.51656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.85325	P	.;.	.;.	4.287778	0.65363	24.8	0.99610653576842512	0.74813	0.99203	0.92752	D	AEFDGBI	0.930795	0.91865	D	0.845615716938358	0.88857	9.738943	0.731918856450484	0.84800	8.39471	0.999999999999766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.232529	0.04895	2	0.662026	0.63922	0	.	.	5.79	5.79	0.91751	3.876000	0.55828	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.263000	0.23594	0.0:1.0:0.0:0.0	17.829	0.88588	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1205.43	33	chr3	149199792	.	C	A	1205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=429;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.329;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	0	1	0
chr3	149212616	149212616	C	G	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon2:c.G229C:p.D77H	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	51216	not_specified|Deficiency_of_ferroxidase	MedGen:CN169374|Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.897	0.186454501028	.	.	0.0002	0	0	0	0	0.0001	0	0.0008	0.0001358	21	154602	rs200683433	6.841e-05	6.84e-05	3.948e-05	9.764e-05	0.0007	5.713e-05	5.326e-05	0.0005	0.0005	0	4.472e-05	0	0	0	0	3.328e-05	4.968e-05	0.0007	3.94e-05	3.937e-05	3.854e-05	4.029e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0.0005	0.0002	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	0.000031	0.55875	D	0.157878	0.999968	0.52935	D	.	.	.	-5.64	0.99249	D	-5.77	0.92648	D	0.869	0.86618	1.075	0.98733	D	0.980	0.99372	D	10	0.93161064	0.92498	D	0.186455	0.85876	D	0.897	0.97097	.	.	0.964204897991	0.96382	0.9528067750625184	0.95264	0.516374766168	0.49524	0.370301783085	0.20875	T	.	.	.	0.163883	0.70560	D	0.373476	0.91198	D	0.820427298545837	0.47804	D	0.966603	0.87805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.80930	A	.;.	.;.	3.716501	0.53084	23.3	0.99526622926848329	0.69591	0.96976	0.71977	D	AEFDGBI	0.801501	0.72719	D	0.649702787519299	0.76351	6.47019	0.557956239683852	0.71954	5.733961	0.999997656337371	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.42	4.55	0.55429	1.099000	0.30625	2.272000	0.31837	0.599000	0.40250	0.244000	0.24789	0.981000	0.30433	0.996000	0.76049	0.0:0.841:0.0:0.159	11.177	0.47832	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	760.43	33	chr3	149212616	.	C	G	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.742;DP=361;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.29;SOR=0.317	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1055	9	0	1	0
chr3	149741679	149741679	C	T	exonic	COMMD2	.	nonsynonymous SNV	COMMD2:NM_016094:exon5:c.G442A:p.V148M	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.010334818708	0.0036	0.000998403	0.0032	0.0013	0.0026	0	0.0002	0.0048	0.0022	0.0018	0.0002305	6	26028	rs148182261	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0044	0.0052	0.0052	0.0010	0.0031	0.0012	0	0.0004	0.0050	0.0053	0.0048	0.0019	0.0034	0.0034	0.0038	0.0029	0.0055	0.0031	0.0030	0.0050	0.0048	0.0012	0	0.0044	0.0006	0	0.0005	0	0.0055	0.0033	0.0015	0.107	0.29554	T	0.085	0.41074	T	0.363	0.33965	B	0.117	0.32014	B	0.000750	0.42006	D	0.236824	1.000	0.50806	D	1.925	0.51371	L	2.83	0.10771	T	-1.38	0.34198	N	0.235	0.26475	-1.0534	0.13466	T	0.017	0.06998	T	10	0.009713143	0.00218	T	0.010335	0.26741	T	0.068	0.19811	.	.	0.206339911435	0.20273	0.4787639907168906	0.47796	0.663642696589	0.59027	0.540998578072	0.44585	T	0.071297	0.34172	T	-0.509788	0.00503	T	-0.49709	0.22650	T	0.00915085435720111	0.00115	T	0.859914	0.55237	D	0.055687983	0.10857	0.09599147	0.22788	0.055687983	0.10856	0.09599147	0.22787	-8.17	0.62223	D	.	.	0.126	0.26794	B	.	.	3.391021	0.46947	22.4	0.99018905064779783	0.50527	0.91585	0.53837	D	AEFBI	0.141364	0.26351	N	0.0136838314858404	0.42478	2.560067	0.128448531586511	0.46011	2.854192	5.21368158721951E-4	0.07225	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.76	3.6	0.40374	1.565000	0.35993	2.656000	0.33848	0.599000	0.40250	0.885000	0.31090	0.993000	0.31925	1.000000	0.97212	0.0:0.7284:0.1328:0.1388	9.022	0.35368	743	0.52768	COMM domain|COMM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004545	0.000000	0.005435	0.002924	0.000000	0.000000	0.009317	0.000000	0.05	1040.43	43	chr3	149741679	.	C	T	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.823;DP=440;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=2.23;SOR=0.449	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	9	0	1	0
chr3	149790882	149790882	G	A	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon2:c.C133T:p.R45W,ANKUB1:NM_001315506:exon2:c.C133T:p.R45W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0046	0.00319489	0.0024	0.0155	0	0	0	0	0	0.0023	0.0005369	83	154602	rs144785380	0.0004	0.0004	0.0005	0.0004	0.0125	0.0004	0.0004	0.0115	0.0111	0.0125	0.0004	0	0	0	0.0004	6.766e-05	0.0008	0.0012	0.0038	0.0038	0.0040	0.0036	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0014	0	0	0	0	5.881e-05	0.0014	0.0008	0.144	0.25664	T	0.091	0.40110	T	.	.	.	.	.	.	0.601145	0.10957	N	0.796847	0.998179	0.22310	N	1.01	0.25309	L	1.79	0.25509	T	-1.88	0.43906	N	0.178	0.19190	-1.0070	0.27850	T	0.013	0.05177	T	10	0.004117042	0.00081	T	.	.	.	0.028	0.06331	.	.	0.0551355673512	0.04727	0.3555955417432692	0.35473	.	.	0.187584400177	0.00185	T	0.012557	0.11015	T	-0.590795	0.00166	T	-0.609088	0.12059	T	0.00883691360091187	0.00109	T	0.689731	0.29897	T	0.056273308	0.11049	0.055084806	0.09597	0.056273308	0.11049	0.055084806	0.09596	-6.376	0.49759	T	.	.	0.086	0.10497	B	.;.	.;.	2.618214	0.34018	19.51	0.9793254282208077	0.36971	0.09810	0.15481	N	AEFDBHCI	0.117310	0.22986	N	-0.904277692287703	0.10741	0.5147998	-0.761755983302642	0.15434	0.8116978	0.999890277695961	0.45129	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.85	0.127	0.14028	0.411000	0.20836	-0.272000	0.10340	-0.154000	0.11915	0.038000	0.20882	0.000000	0.08366	0.987000	0.62547	0.1641:0.0:0.2369:0.599	6.505	0.21387	888	0.27761	.;Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1467.43	36	chr3	149790882	.	G	A	1467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=429;ExcessHet=0;FS=3.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.377;SOR=1.093	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1268	9	0	1	0
chr3	149792321	149792321	C	T	exonic	ANKUB1	.	nonsynonymous SNV	ANKUB1:NM_001144960:exon1:c.G46A:p.V16I,ANKUB1:NM_001315506:exon1:c.G46A:p.V16I	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00498328214911	0.0002	0.000199681	0.0002	0	0.0025	0	0	0.0002	0	0.0003	3.88e-05	6	154602	rs368657651	6.88e-05	6.635e-05	6.854e-05	6.906e-05	0.0007	5.746e-05	5.337e-05	0.0002	0.0001	6.47e-05	8.99e-05	0	0	0	0.0007	6.174e-05	0.0001	0.0002	3.94e-05	3.938e-05	2.571e-05	5.372e-05	9.626e-05	1.715e-05	1.129e-05	3.243e-05	1.911e-05	9.626e-05	0	6.539e-05	0	0	0	0	1.47e-05	0	0	0.089	0.32141	T	0.183	0.29153	T	.	.	.	.	.	.	0.000494	0.43931	N	0.086602	0.968349	0.25806	N	1.26	0.31868	L	1.0	0.41392	T	-0.47	0.15178	N	0.118	0.15888	-0.9619	0.38819	T	0.117	0.41253	T	10	0.013179272	0.00280	T	0.004983	0.12566	T	0.077	0.22490	.	.	0.0611884634855	0.05136	0.09609079441324556	0.09541	.	.	0.341656386852	0.16686	T	0.005024	0.04451	T	-0.382906	0.02987	T	-0.513495	0.20957	T	0.0742113279339242	0.09230	T	0.573543	0.20534	T	0.02928469	0.02398	0.0538028	0.09132	0.02928469	0.02398	0.0538028	0.09132	-2.758	0.07803	T	.	.	0.084	0.09917	B	.;.	.;.	1.750343	0.22270	15.55	0.9945509356656772	0.65479	0.63205	0.32017	D	AEFBI	0.092825	0.18788	N	-0.093915915277457	0.37659	2.194177	0.0304917249945654	0.41137	2.466542	0.953250499578199	0.28063	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	6.03	4.24	0.49486	0.772000	0.26309	2.150000	0.30904	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.8492:0.0:0.1508	11.052	0.47114	891	0.26808	.;Ubiquitin domain|Ubiquitin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	816.43	37	chr3	149792321	.	C	T	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.462;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.78;ReadPosRankSum=0.63;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	9	0	1	0
chr3	149983194	149983194	C	T	exonic	TMEM183B	.	nonsynonymous SNV	TMEM183B:NM_001079809:exon1:c.G115A:p.V39M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00219649	0.0008	0.0097	8.675e-05	0	0	1.512e-05	0	0	0.0007244	112	154602	rs111318718	0.0002	0.0002	0.0003	0.0002	0.0085	0.0002	0.0002	0.0077	0.0074	0.0085	0.0002	0	2.519e-05	0	0.0003	7.194e-06	0.0004	3.478e-05	0.0026	0.0026	0.0027	0.0025	0.0091	0.0024	0.0023	0.0083	0.0080	0.0091	0	0.0012	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1491.43	34	chr3	149983194	.	C	T	1491.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.387;DP=500;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.24;QD=9.26;ReadPosRankSum=-1.488;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1474	9	0	1	0
chr3	150568244	150568244	A	C	exonic	EIF2A	.	nonsynonymous SNV	EIF2A:NM_001319044:exon7:c.A580C:p.T194P,EIF2A:NM_001319043:exon8:c.A688C:p.T230P,EIF2A:NM_001319045:exon9:c.A748C:p.T250P,EIF2A:NM_001319046:exon9:c.A121C:p.T41P,EIF2A:NM_032025:exon9:c.A763C:p.T255P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0213425064669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.53900	D	0.056	0.47097	T	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.73	0.79844	M	1.41	0.33630	T	-3.0	0.62343	D	0.65	0.71232	-0.3658	0.73089	T	0.323	0.69221	T	10	0.70100224	0.72443	D	0.021343	0.44093	T	0.553	0.81544	0.699	0.83592	0.784700991407	0.78271	0.743168788842752	0.74262	0.616629423173	0.56118	0.708202362061	0.68333	T	0.485356	0.81229	T	0.267661	0.80231	D	0.147	0.79975	D	0.947994828224182	0.62800	D	0.933407	0.75038	D	0.7038058	0.78265	0.74330014	0.84827	0.7038058	0.78267	0.74330014	0.84827	-13.337	0.92037	D	.	.	0.918	0.84045	P	.;.;.;.	.;.;.;.	4.822277	0.78552	26.9	0.9964849368424693	0.77130	0.99682	0.98627	D	AEFBI	0.969621	0.99199	D	0.668070418135055	0.77542	6.694877	0.58825442757094	0.74097	6.079336	0.999999805332197	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	8.887000	0.92083	11.231000	0.90101	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	16.407	0.83516	928	0.17405	.;Translation initiation factor, beta propellor-like domain;.;Translation initiation factor, beta propellor-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	107.73	59	chr3	150568244	.	A	C	107.73	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.15;DP=336;ExcessHet=0;FS=56.17;InbreedingCoeff=0.1222;MLEAC=2;MLEAF=0.25;MQ=59.89;MQRankSum=0;QD=3.17;ReadPosRankSum=1.05;SOR=5.131	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:32,0:32:0:.:.:0,0,0:.	3	0	1	6
chr3	151294198	151294198	G	A	exonic	GPR87	.	nonsynonymous SNV	GPR87:NM_023915:exon3:c.C1048T:p.R350C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0411650590243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1331356491	1.236e-05	1.437e-05	6.832e-06	1.794e-05	7.007e-05	7.73e-06	6.37e-06	3.013e-05	2.05e-05	0	2.253e-05	0	2.523e-05	1.874e-05	0	7.22e-06	1.662e-05	7.007e-05	1.973e-05	1.971e-05	2.571e-05	1.346e-05	0.0002	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.007	0.69154	D	0.999	0.77913	D	0.948	0.68536	D	0.000186	0.48115	D	0.098474	1	0.81001	D	0	0.06538	N	-0.07	0.63738	T	-0.78	0.21644	N	0.597	0.61596	-0.4552	0.70228	T	0.250	0.61969	T	10	0.66804594	0.70545	D	0.041165	0.59779	D	0.247	0.55478	.	.	0.856099253768	0.85471	0.4279524815583126	0.42712	0.303414013437	0.32666	0.79935336113	0.81865	T	0.026206	0.19441	T	0.0219958	0.54650	T	-0.105551	0.62965	T	0.792742908000946	0.45869	D	0.90311	0.66064	D	0.21759374	0.44247	0.14785609	0.34973	0.21759374	0.44247	0.14785609	0.34973	-5.117	0.38086	T	.	.	0.449	0.62162	A	.	.	5.060451	0.84340	28.3	0.99930784289343044	0.99334	0.99577	0.97626	D	AEFBI	0.883870	0.81313	D	0.528983493859718	0.68813	5.268908	0.574466726987938	0.73114	5.917929	0.999999999985948	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.24	5.24	0.72863	7.824000	0.84838	11.675000	0.94150	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	18.793	0.91949	807	0.43470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	736.43	37	chr3	151294198	.	G	A	736.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.332;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=0.802;SOR=0.652	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	9	0	1	0
chr3	151445177	151445177	C	A	exonic	IGSF10	.	stopgain	IGSF10:NM_001385061:exon5:c.G4804T:p.E1602X,IGSF10:NM_001385060:exon6:c.G4804T:p.E1602X,IGSF10:NM_178822:exon6:c.G4804T:p.E1602X,IGSF10:NM_001385062:exon7:c.G4804T:p.E1602X,IGSF10:NM_001385063:exon7:c.G4804T:p.E1602X	.	436	1084	2	0	0	2	0.000921659	.	.	.	733877	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.00279553	0.0026	0.0004	0.0019	0.0037	0.0003	0.0026	0.0011	0.0053	0.0026843	415	154602	rs79363433	0.0035	0.0035	0.0033	0.0036	0.0062	0.0034	0.0033	0.0056	0.0054	0.0004	0.0015	0.0012	0.0062	0.0002	0.0016	0.0036	0.0033	0.0054	0.0022	0.0022	0.0023	0.0020	0.0048	0.0020	0.0019	0.0033	0.0028	0.0006	0.0022	0.0018	0.0012	0.0044	0	0.0102	0.0032	0.0014	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	0.215678	0.16259	N	0.511109	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0410788	0.57187	T	0.287735	0.87534	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.472085	0.95267	34	0.98807294647819333	0.46558	0.35912	0.25412	N	AEFBIJ	0.137410	0.25839	N	0.344421690677322	0.58446	4.016855	0.0533158814760486	0.42233	2.550888	0.99998934215917	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	4.88	0.63131	1.337000	0.33467	1.298000	0.25456	0.599000	0.40250	0.105000	0.22895	0.006000	0.19429	0.006000	0.07323	0.0:0.8493:0.1507:0.0	14.046	0.64225	813	0.42397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	2963.43	187	chr3	151445177	.	C	A	2963.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=509;ExcessHet=0;FS=9.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.99;SOR=1.112	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1100	9	0	1	0
chr3	154122017	154122017	T	A	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.T25A:p.F9I,ARHGEF26:NM_001251963:exon2:c.T25A:p.F9I,ARHGEF26:NM_015595:exon2:c.T25A:p.F9I	.	427	1033	57	5	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00738818	0.0098	0.0017	0.0036	0	0.0062	0.0101	0.0129	0.0262	0.0091267	1411	154602	rs139430962	0.0097	0.0097	0.0091	0.0104	0.0245	0.0096	0.0095	0.0237	0.0233	0.0012	0.0043	0.0010	5.11e-05	0.0066	0.0212	0.0097	0.0089	0.0245	0.0067	0.0067	0.0064	0.0070	0.0278	0.0064	0.0062	0.0240	0.0225	0.0013	0.0011	0.0061	0.0020	0.0002	0.0045	0.0136	0.0098	0.0076	0.0278	0.0	0.91255	D	0.096	0.52060	T	0.001	0.07471	B	0.001	0.04355	B	0.000190	0.48115	D	0.140928	0.558637	0.32194	D	1.78	0.46185	L	0.23	0.64630	T	-0.91	0.30762	N	0.233	0.38438	-1.0122	0.26228	T	0.071	0.28871	T	10	0.003982842	0.00077	T	.	.	.	0.024	0.04979	.	.	0.459818148978	0.45609	0.13923310431093144	0.13846	0.121683234402	0.13713	0.574688792229	0.49339	T	0.002676	0.02065	T	-0.420583	0.01696	T	-0.359329	0.38131	T	0.0941204471095192	0.11697	T	0.592841	0.22456	T	0.54745376	0.69814	0.28995273	0.55016	0.54745376	0.69815	0.28995273	0.55015	-3.511	0.16600	T	.	.	0.076	0.37159	B	.;.;.;.	.;.;.;.	2.139647	0.27245	17.40	0.98046948600260686	0.37835	0.71905	0.35217	D	AEFDGBCIJ	0.150255	0.27451	N	-0.463189237740392	0.23295	1.249935	-0.320018905430494	0.27452	1.523414	0.999999999235656	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	4.79	2.38	0.28415	0.882000	0.27824	-0.375000	0.09580	0.665000	0.62972	0.997000	0.40164	0.000000	0.08366	0.967000	0.53440	0.1533:0.0862:0.0:0.7605	5.602	0.16638	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.010101	0.010870	0.011696	0.000000	0.025862	0.039634	0.034091	0.15	6007.45	43	chr3	154122017	.	T	A	6007.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.523;DP=850;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.591;SOR=0.748	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	7	0	3	0
chr3	154122063	154122063	C	T	exonic	ARHGEF26	.	nonsynonymous SNV	ARHGEF26:NM_001251962:exon2:c.C71T:p.P24L,ARHGEF26:NM_001251963:exon2:c.C71T:p.P24L,ARHGEF26:NM_015595:exon2:c.C71T:p.P24L	.	426	1082	13	1	0	15	0.00688389	.	.	.	2367585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.0540427132487	0.0003	0.000798722	0.0004	0	0.0009	0	0	0.0005	0	0.0002	0.0003816	59	154602	rs188383913	0.0003	0.0003	0.0003	0.0003	0.0056	0.0003	0.0003	0.0040	0.0035	0.0003	0.0015	0.0005	0	0	0.0056	0.0003	0.0006	0.0002	0.0006	0.0006	0.0005	0.0006	0.0027	0.0005	0.0004	0.0021	0.0019	0.0001	0	0.0027	0.0009	0	0	0.0034	0.0004	0.0014	0	0.012	0.57480	D	0.01	0.65728	D	0.267	0.31683	B	0.086	0.29521	B	0.096924	0.20052	N	0.509097	0.996986	0.23790	N	2.215	0.62545	M	0.22	0.64630	T	-1.73	0.53898	N	0.527	0.55626	-0.9201	0.45540	T	0.120	0.41821	T	10	0.011167675	0.00245	T	0.054043	0.65705	D	0.097	0.27909	.	.	0.290590437066	0.28656	0.20251759022430618	0.20168	0.417416344241	0.42361	0.598193407059	0.52649	T	0.004718	0.04133	T	-0.371582	0.03515	T	-0.356969	0.38403	T	0.0390953934953935	0.03527	T	0.848915	0.53103	T	0.1263729	0.29601	0.087981336	0.20486	0.1263729	0.29601	0.087981336	0.20485	-3.668	0.23188	T	.	.	0.087	0.30476	B	.;.;.;.	.;.;.;.	3.738933	0.53529	23.4	0.99739609883945768	0.83409	0.10553	0.16028	N	AEFDBCIJ	0.059685	0.11290	N	-0.474700130831822	0.22911	1.226717	-0.458798426965884	0.23300	1.269879	0.999999999448277	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.54	4.54	0.55220	0.457000	0.21588	5.854000	0.50366	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.976000	0.56436	0.1748:0.8252:0.0:0.0	11.926	0.52100	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.013587	0.011696	0.000000	0.008621	0.012195	0.000000	0.05	1712.43	43	chr3	154122063	.	C	T	1712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.275;DP=862;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-0.07;SOR=0.714	GT:AD:DP:GQ:PL	0/0:131,0:131:99:0,120,1800	9	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1833.49	139	chr3	155853645	.	G	C	1833.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.101;DP=1064;ExcessHet=4.5998;FS=169.181;InbreedingCoeff=-0.4661;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.03;ReadPosRankSum=1.44;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,11:107:23:0|1:155853645_G_C:23,0,3615:155853645	3	0	6	1
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S,SLC33A1:NM_001363883:exon1:c.C352T:p.P118S,SLC33A1:NM_004733:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	330.74	139	chr3	155853646	.	G	A	330.74	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=785;ExcessHet=0.7463;FS=110.027;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=1.52;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,11:107:23:0|1:155853645_G_C:23,0,3615:155853645	7	0	3	0
chr3	156694056	156694056	C	G	exonic	TIPARP	.	nonsynonymous SNV	TIPARP:NM_001184717:exon3:c.C954G:p.N318K,TIPARP:NM_001184718:exon3:c.C954G:p.N318K,TIPARP:NM_015508:exon3:c.C954G:p.N318K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00374057626805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.116140	0.19205	N	0.578004	0.996089	0.23119	N	-1.155	0.00891	N	3.07	0.20387	T	0.19	0.05604	N	0.209	0.39962	-0.9697	0.37262	T	0.021	0.08639	T	10	0.06756523	0.09433	T	0.003741	0.08682	T	0.030	0.07022	0.443	0.49975	0.240615537116	0.23683	0.13651928786235068	0.13575	0.310699151363	0.33380	0.465640515089	0.34083	T	0.068415	0.33451	T	-0.338975	0.05459	T	-0.72469	0.04572	T	0.0358050905550757	0.02946	T	0.636336	0.25008	T	0.023534594	0.01101	0.038588546	0.03760	0.023534594	0.01101	0.038588546	0.03760	-2.713	0.07413	T	.	.	0.091	0.21466	B	.;.;.;.;.;.	.;.;.;.;.;.	0.718742	0.10876	7.552	0.67235920834590612	0.08294	0.68012	0.33643	D	AEFBI	0.089181	0.18077	N	-0.856562609384996	0.11889	0.5763189	-0.737321033342763	0.16035	0.84632	0.999638462238281	0.41205	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.36	-1.16	0.09181	0.056000	0.14136	0.472000	0.18721	-1.797000	0.00630	0.937000	0.32526	0.998000	0.33993	0.927000	0.46353	0.0:0.3926:0.2264:0.3811	7.040	0.24192	682	0.59757	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1154.43	35	chr3	156694056	.	C	G	1154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=419;ExcessHet=0;FS=1.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.986;SOR=0.985	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	9	0	1	0
chr3	157381267	157381267	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1016G:p.S339C,VEPH1:NM_001167912:exon7:c.C1016G:p.S339C,VEPH1:NM_024621:exon7:c.C1016G:p.S339C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00405651869442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.706e-05	0.0015	3.271e-05	2.14e-05	3.398e-05	2.012e-05	1.762e-05	2.487e-05	2.207e-05	3.089e-05	0	0	0	0	0	3.398e-05	1.71e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.094	0.39799	T	0.016	0.17332	B	0.006	0.12133	B	0.007582	0.31308	N	0.359250	0.787702	0.29261	N	1.43	0.35840	L	3.01	0.09075	T	-1.91	0.46337	N	0.318	0.36674	-1.0854	0.06335	T	0.025	0.10464	T	10	0.14302394	0.27159	T	0.004057	0.09681	T	0.047	0.12962	0.413	0.45052	0.203808441222	0.19973	0.21481885595038	0.21397	0.0389899136919	0.04147	0.438936650753	0.30431	T	0.149031	0.48786	T	-0.240838	0.15241	T	-0.583723	0.14213	T	0.213982076796247	0.21159	T	0.79972	0.44511	T	0.09153386	0.21449	0.07893088	0.17725	0.09153386	0.21449	0.07893088	0.17725	-7.287	0.56309	T	.	.	0.085	0.11269	B	.;.;.	.;.;.	3.162719	0.42862	21.6	0.91500678835389826	0.20774	0.88574	0.48565	D	AEFDBI	0.301950	0.41033	N	-0.0840343711138489	0.38093	2.225797	0.083874411417393	0.43736	2.669398	0.99938992129566	0.39415	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	1.981000	0.40250	9.905000	0.82381	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.848000	0.40082	0.0:0.1414:0.7122:0.1463	10.655	0.44865	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	745.48	33	chr3	157381267	.	G	C	745.48	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-7.313;DP=1275;ExcessHet=0;FS=104.512;InbreedingCoeff=-0.1772;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.06;ReadPosRankSum=2.36;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1316:.	5	0	1	4
chr3	157381269	157381269	G	C	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.C1014G:p.F338L,VEPH1:NM_001167912:exon7:c.C1014G:p.F338L,VEPH1:NM_024621:exon7:c.C1014G:p.F338L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.00696849747109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.197e-05	0.0013	1.98e-05	2.414e-05	2.814e-05	1.574e-05	1.372e-05	1.996e-05	1.733e-05	0	0	0	0	0	0	2.814e-05	1.703e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.075	0.43344	T	0.986	0.61523	D	0.716	0.54713	P	0.000000	0.84330	D	0.052188	0.999883	0.50402	D	1.79	0.46772	L	2.8	0.11082	T	-2.64	0.60827	D	0.629	0.64308	-1.1573	0.00823	T	0.050	0.21300	T	10	0.65501356	0.69822	D	0.006968	0.18458	T	0.234	0.53644	0.566	0.68768	0.380052290102	0.37618	0.540766503490007	0.54001	0.0497134926514	0.05451	0.693336129189	0.66186	T	0.39328	0.75273	T	-0.0694684	0.41412	T	-0.337563	0.40622	T	0.937143862247467	0.60670	D	0.890411	0.63503	D	0.3446262	0.56645	0.22055541	0.46835	0.3446262	0.56645	0.22055541	0.46834	-10.426	0.76421	D	.	.	0.981	0.91639	P	.;.;.	.;.;.	4.365249	0.67160	25.1	0.99181655721304818	0.54701	0.98496	0.83394	D	AEFDBI	0.895770	0.83615	D	0.298767961957114	0.56086	3.772896	0.29353445057777	0.55160	3.679457	0.999999819584022	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	4.6	0.56512	7.371000	0.78858	5.894000	0.50799	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0755:0.0:0.9245:0.0	13.320	0.59864	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	739.47	33	chr3	157381269	.	G	C	739.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-8.351;DP=1309;ExcessHet=0;FS=103.381;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=2.33;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1316:.	5	0	1	4
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_001167912:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_024621:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	814.39	33	chr3	157381271	.	AGGTG	A	814.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.792;DP=1694;ExcessHet=0;FS=90.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.5;ReadPosRankSum=1.59;SOR=6.043	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1316	9	0	1	0
chr3	157381275	157381275	-	CCCC	exonic	VEPH1	.	frameshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_001167912:exon7:c.1007_1008insGGGG:p.D336Efs*27,VEPH1:NM_024621:exon7:c.1007_1008insGGGG:p.D336Efs*27	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	842.35	182	chr3	157381275	.	G	GCCCC	842.35	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.304;DP=1192;ExcessHet=0;FS=102.297;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.82;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	4	0	1	5
chr3	157381277	157381277	C	T	exonic	VEPH1	.	nonsynonymous SNV	VEPH1:NM_001167911:exon7:c.G1006A:p.D336N,VEPH1:NM_001167912:exon7:c.G1006A:p.D336N,VEPH1:NM_024621:exon7:c.G1006A:p.D336N	.	435	1047	38	2	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0022	0.00419329	0.0039	0.0002	0.0019	0.0001	0	0.0032	0.0066	0.0142	0.0036998	572	154602	rs147644993	0.0027	0.0027	0.0022	0.0031	0.0142	0.0026	0.0026	0.0136	0.0133	0.0001	0.0021	0.0136	5.038e-05	0.0003	0.0111	0.0017	0.0031	0.0142	0.0021	0.0021	0.0020	0.0022	0.0135	0.0019	0.0019	0.0109	0.0099	0.0002	0.0033	0.0019	0.0150	0.0002	0.0003	0	0.0023	0.0024	0.0135	0.017	0.51248	D	0.105	0.38016	T	0.996	0.68779	D	0.704	0.54300	P	0.000027	0.55875	D	0.155307	1	0.81001	D	2.16	0.60381	M	1.15	0.38236	T	-2.12	0.48184	N	0.629	0.65587	-0.9070	0.47215	T	0.117	0.41187	T	10	0.0065697134	0.00149	T	.	.	.	0.171	0.43483	.	.	0.537495771734	0.53400	0.42092251994617286	0.42008	0.187423537557	0.21056	0.652817428112	0.60386	T	0.276172	0.64874	T	-0.470392	0.00845	T	-0.436786	0.29169	T	0.0457687581166683	0.04742	T	0.916408	0.70392	D	0.12998919	0.30344	0.12071471	0.29130	0.12998919	0.30344	0.12071471	0.29129	-4.903	0.37876	T	.	.	0.182	0.39562	B	.;.;.	.;.;.	4.533013	0.71174	25.6	0.99764798235684027	0.85335	0.98129	0.79847	D	AEFDBI	0.861417	0.77948	D	0.408562461385877	0.61892	4.396625	0.345439390362581	0.58232	3.992722	0.999999999999002	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	7.331000	0.78452	4.881000	0.45666	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:1.0:0.0:0.0	18.345	0.90260	734	0.53889	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.008772	0.000000	0.025862	0.015244	0.018939	0.05	2121.43	164	chr3	157381277	.	C	T	2121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=526;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.71;SOR=0.574	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr3	157437630	157437630	G	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon2:c.G248C:p.G83A	.	429	1049	42	2	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0003	0.00459265	0.0132	0	0.0021	0	0	0.0056	0.0060	0.0248	0.00326	504	154602	rs148943471	0.0031	0.0032	0.0024	0.0038	0.0239	0.0030	0.0030	0.0230	0.0227	0.0003	0.0011	0.0084	2.762e-05	0.0003	0.0177	0.0017	0.0047	0.0239	0.0023	0.0023	0.0018	0.0029	0.0209	0.0021	0.0021	0.0176	0.0164	0.0005	0	0.0014	0.0081	0.0002	9.413e-05	0.0170	0.0025	0.0033	0.0209	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.035426	0.01802	N	2.026420	0.99764	0.58761	N	2.105	0.58435	M	3.21	0.07125	T	0.02	0.06739	N	0.055	0.02658	-0.9854	0.33735	T	0.012	0.04605	T	10	0.0038408637	0.00073	T	.	.	.	0.080	0.23350	.	.	0.190952846119	0.18690	0.4614426320875624	0.46062	0.247234570018	0.27269	0.649283289909	0.59884	T	0.04848	0.28029	T	-0.715397	0.00029	T	-0.78147	0.02409	T	0.00553688543206395	0.00060	T	0.592841	0.21881	T	0.030456103	0.02712	0.05540971	0.09715	0.030456103	0.02712	0.05540971	0.09714	-3.097	0.11262	T	.	.	0.088	0.11654	B	.	.	2.130164	0.27123	17.35	0.86441003015604689	0.16538	0.59410	0.30907	D	ALL	0.181830	0.30915	N	-0.680120344081012	0.16590	0.8465395	-0.518097625390096	0.21662	1.172889	0.999999997809444	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.18	1.06	0.19341	1.529000	0.35602	1.344000	0.25758	0.618000	0.50648	0.978000	0.35038	0.791000	0.26863	0.939000	0.47918	0.0:0.3428:0.2557:0.4015	7.024	0.24111	778	0.48011	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.000000	0.009642	0.008772	0.000000	0.008929	0.009259	0.030534	0.05	837.43	35	chr3	157437630	.	G	C	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-2.271;SOR=0.693	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,107,1274	9	0	1	0
chr3	157442738	157442738	T	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon3:c.T905C:p.V302A	.	426	1095	0	1	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0268136438354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.022	0.57587	D	0.969	0.56768	D	0.832	0.59730	P	0.000367	0.45194	D	0.198841	0.995121	0.81001	D	2.43	0.70455	M	2.89	0.10196	T	-3.19	0.64593	D	0.341	0.38232	-0.9998	0.29973	T	0.092	0.35228	T	10	0.45706624	0.59055	T	0.026814	0.49694	D	0.381	0.69863	0.725	0.85937	0.61513531927	0.61202	0.771251246932743	0.77075	0.664077401662	0.59052	0.384255051613	0.22858	T	0.202573	0.56079	T	-0.164931	0.26005	T	-0.474688	0.25012	T	0.962833523750305	0.66483	D	0.840916	0.51656	T	0.36167428	0.57964	0.3791893	0.62980	0.36167428	0.57964	0.3791893	0.62980	-8.138	0.62006	D	.	.	0.683	0.72250	P	.	.	4.531872	0.71148	25.6	0.99634010860210587	0.76203	0.96158	0.67799	D	AEFGBCI	0.815904	0.73777	D	0.581646817757659	0.72030	5.741953	0.475410305670346	0.66363	4.942557	0.999999999999814	0.74766	0.645754	0.44609	0	0.563428	0.19063	0	0.696353	0.63694	0	0.723	0.93126	0	.	.	5.86	5.86	0.93936	7.565000	0.81337	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.923000	0.45890	0.0:0.0:0.0:1.0	16.248	0.82278	778	0.48011	LamG-like jellyroll fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2122.43	36	chr3	157442738	.	T	C	2122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.809;DP=481;ExcessHet=0;FS=1.198;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.74;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	9	0	1	0
chr3	158669561	158669561	T	C	exonic	LXN	.	nonsynonymous SNV	LXN:NM_020169:exon3:c.A242G:p.Q81R	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0094615251403	0.0006	.	0.0005	0	0	0	0	0.0008	0.0044	0	0.0004916	76	154602	rs142211639	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0008	0.0006	0.0001	0.0004	3.827e-05	0	7.488e-05	0.0016	0.0006	0.0003	0.0002	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	4.823e-05	0	0.0005	0	0	0	0.0032	0.0007	0	0	0.09	0.31987	T	0.13	0.34716	T	0.483	0.36807	P	0.255	0.39216	B	0.001944	0.37596	N	0.260252	0.998984	0.45816	D	2.38	0.68558	M	0.85	0.47130	T	-1.81	0.42575	N	0.194	0.21319	-0.9117	0.46645	T	0.155	0.48653	T	10	0.061083227	0.07605	T	0.009462	0.24786	T	0.118	0.32913	.	.	0.658768918763	0.65591	0.22068530286071483	0.21983	0.305303193982	0.32830	0.335538446903	0.15769	T	0.173783	0.52278	T	-0.43119	0.01458	T	-0.473934	0.25093	T	0.0480458527253494	0.05151	T	0.645735	0.25721	T	0.17611821	0.38507	0.11139329	0.26869	0.17611821	0.38507	0.11139329	0.26868	-4.35	0.28872	T	.	.	0.078	0.07036	B	.	.	3.014880	0.40329	21.1	0.99249287566890521	0.56825	0.74769	0.36585	D	AEFDBCI	0.302445	0.41069	N	0.174477712140037	0.49977	3.192219	0.236571707318588	0.51888	3.367669	0.999977752200831	0.50053	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.04	5.04	0.67293	2.495000	0.44997	7.920000	0.74475	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1503:0.8496	11.470	0.49508	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	372.43	34	chr3	158669561	.	T	C	372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.803;DP=329;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-0.606;SOR=0.307	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,920	9	0	1	0
chr3	158732255	158732255	A	T	exonic	RARRES1	.	nonsynonymous SNV	RARRES1:NM_002888:exon1:c.T161A:p.V54D,RARRES1:NM_206963:exon1:c.T161A:p.V54D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0151586337658	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341309031	1.636e-06	2.736e-06	3.197e-06	0	8.322e-05	2.7e-07	1e-07	1.477e-05	6.15e-06	8.322e-05	0	0	0	0	0	0	0	0	6.584e-06	6.569e-06	0	1.348e-05	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.025	0.50676	D	0.009	0.66756	D	0.054	0.22658	B	0.058	0.26451	B	0.016006	0.28092	U	0.326133	1	0.08975	N	0.69	0.16971	N	0.94	0.43672	T	-0.6	0.19297	N	0.258	0.30574	-1.0749	0.08369	T	0.041	0.17742	T	10	0.103070796	0.18926	T	0.015159	0.35730	T	0.059	0.16972	0.501	0.59304	0.283761946502	0.27984	0.2616378392552867	0.26076	1.26377591243	0.82109	0.736372351646	0.72439	T	0.002289	0.01691	T	-0.178086	0.24019	T	-0.493584	0.23015	T	0.207687467336655	0.20832	T	0.49515	0.15352	T	0.16459364	0.36676	0.17299736	0.39595	0.16459364	0.36675	0.17299736	0.39594	-6.34	0.53011	T	.	.	0.165	0.39999	B	.;.	.;.	0.782466	0.11529	8.124	0.93731520838831461	0.23661	0.02081	0.06189	N	ALL	0.062042	0.11902	N	-1.26789589116234	0.04069	0.1829287	-1.35653351072764	0.03729	0.1745629	0.999999999989221	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	2.55	-2.21	0.06581	-0.991000	0.03839	-1.187000	0.06080	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3733:0.0:0.3932:0.2335	2.360	0.04042	915	0.20917	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	261.43	32	chr3	158732255	.	A	T	261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=302;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.095;SOR=0.991	GT:AD:DP:GQ:PL	0/0:17,0:17:51:0,51,517	9	0	1	0
chr3	158805435	158805435	T	A	exonic	MFSD1	.	nonsynonymous SNV	MFSD1:NM_001289407:exon3:c.T71A:p.F24Y,MFSD1:NM_022736:exon3:c.T290A:p.F97Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.068504102991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.012	0.65728	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.048075	1	0.81001	D	3.24	0.89678	M	0.23	0.81235	T	-2.84	0.61865	D	0.802	0.79792	0.697	0.93142	D	0.741	0.91159	D	10	0.8283128	0.82001	D	0.068504	0.70468	D	0.593	0.83802	0.44	0.49484	0.951913928086	0.95140	0.6542273095973397	0.65358	0.333385511375	0.35373	0.752445101738	0.74807	T	0.185162	0.72400	T	0.287375	0.81940	D	0.175018	0.81707	D	0.984993875026703	0.76123	D	0.884412	0.63970	D	0.7559633	0.81216	0.6307889	0.78462	0.7559633	0.81217	0.6307889	0.78463	-13.591	0.92674	D	.	.	0.61	0.76085	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.025106	0.83546	28.1	0.99644822032757652	0.76881	0.97204	0.73304	D	AEFBI	0.940929	0.94355	D	0.894168749288018	0.91470	10.90049	0.831929788912852	0.91919	11.13736	0.999999999998811	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	7.713000	0.83653	7.926000	0.74773	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.720	0.68912	909	0.22467	.;.;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1510.43	144	chr3	158805435	.	T	A	1510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.15;DP=456;ExcessHet=0;FS=1.312;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.335;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	9	0	1	0
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A,SMC4:NM_001002800:exon5:c.T530C:p.V177A,SMC4:NM_001288753:exon5:c.T455C:p.V152A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	148.14	75	chr3	160404347	.	T	C	148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.969;DP=472;ExcessHet=0.2348;FS=141.343;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.98;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:88:.:.:0,88,1020:.	8	0	2	0
chr3	161250296	161250296	G	A	exonic	NMD3	.	nonsynonymous SNV	NMD3:NM_001320227:exon15:c.G1351A:p.A451T,NMD3:NM_015938:exon15:c.G1351A:p.A451T	.	468	1053	1	0	0	1	0.000474608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00601221403572	0.0028	0.00219649	0.0010	0.0099	0.0008	0	0	3.042e-05	0.0011	0	0.0008603	133	154602	rs111422658	0.0002	0.0003	0.0003	0.0002	0.0081	0.0002	0.0002	0.0073	0.0070	0.0081	0.0006	0.0001	0	0	0.0003	2.175e-05	0.0005	4.666e-05	0.0024	0.0024	0.0026	0.0023	0.0083	0.0022	0.0022	0.0076	0.0073	0.0083	0	0.0010	0	0	0	0	8.83e-05	0.0033	0	0.08	0.36113	T	0.1	0.38891	T	0.0	0.02946	B	0.001	0.06944	B	0.000414	0.44736	N	0.260464	0.991062	0.41300	D	0.55	0.14455	N	2.11	0.19860	T	0.0	0.07008	N	0.194	0.21319	-1.0791	0.07524	T	0.025	0.10509	T	10	0.0039411485	0.00076	T	0.006012	0.15698	T	0.052	0.14661	.	.	0.117506650769	0.11410	0.13950970930916146	0.13873	0.0743008846155	0.08332	0.372317761183	0.21164	T	0.031788	0.22201	T	-0.537899	0.00345	T	-0.53804	0.18489	T	0.0215113222196671	0.00855	T	0.823318	0.48387	T	0.029957144	0.02577	0.06489935	0.13074	0.029957144	0.02577	0.06489935	0.13074	-3.641	0.18452	T	.	.	0.076	0.15070	B	.;.;.	.;.;.	1.475410	0.19003	14.04	0.95572621149535308	0.27267	0.31441	0.24338	N	AEFDBIJ	0.186520	0.31383	N	-0.713647174504281	0.15638	0.7898339	-0.605492655287743	0.19351	1.037875	0.931278525575603	0.27041	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.07	2.27	0.27501	0.403000	0.20706	2.620000	0.33629	-0.127000	0.13314	0.108000	0.22953	1.000000	0.68203	0.996000	0.76049	0.2248:0.0:0.7752:0.0	10.002	0.41105	772	0.48957	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1223.43	34	chr3	161250296	.	G	A	1223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=423;ExcessHet=0;FS=1.535;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.228;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	9	0	1	0
chr3	165059224	165059224	G	A	exonic	SI	.	nonsynonymous SNV	SI:NM_001041:exon11:c.C1222T:p.L408F	Sucrase-isomaltase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.130088542314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.16	0.31427	T	0.28	0.32073	B	0.288	0.40614	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.35	0.33515	L	-3.07	0.92508	D	-1.95	0.45222	N	0.791	0.78737	0.308	0.87683	D	0.725	0.90590	D	10	0.7482605	0.75447	D	0.130089	0.81222	D	0.627	0.85615	0.71	0.84601	0.644783390839	0.64184	0.5766526074503555	0.57594	0.195250047841	0.21862	0.529772222042	0.43001	T	0.343134	0.71181	T	0.13436	0.67785	D	-0.0447782	0.67378	D	0.975477278232574	0.70951	D	0.676232	0.28483	T	0.64327395	0.75006	0.44615185	0.67739	0.64327395	0.75007	0.44615185	0.67739	-6.902	0.53314	T	.	.	0.466	0.62999	A	.	.	3.048753	0.40899	21.3	0.99795213849335695	0.88017	0.98754	0.86424	D	AEFI	0.935272	0.92990	D	0.210870460664985	0.51724	3.351537	0.333469466933853	0.57516	3.917734	0.999999081021576	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.748000	0.83977	5.875000	0.50578	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.696000	0.34018	0.0:0.0:1.0:0.0	19.576	0.95438	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	42.43	41	chr3	165059224	.	G	A	42.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.663;DP=782;ExcessHet=0;FS=123.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.994;SOR=9.19	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr3	167531199	167531199	G	A	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001366158:exon10:c.C1078T:p.R360C,WDR49:NM_001348951:exon13:c.C2101T:p.R701C,WDR49:NM_001348952:exon13:c.C2101T:p.R701C,WDR49:NM_001366157:exon13:c.C2134T:p.R712C	.	433	1087	1	1	0	3	0.00137804	.	.	.	3633659	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0105706105996	0.0003	.	0.0001	0.0003	0	0.0002	0	0.0001	0.0011	0.0002	0.0001035	16	154602	rs368438338	6.44e-05	6.635e-05	4.772e-05	8.125e-05	0.0002	5.369e-05	4.984e-05	0.0001	8.655e-05	8.991e-05	6.716e-05	0	2.52e-05	0	0	6.297e-05	3.322e-05	0.0002	9.865e-05	9.853e-05	0.0001	8.084e-05	0.0002	6.012e-05	4.884e-05	0.0001	8.457e-05	0.0002	0	0	0	0	0	0	8.823e-05	0	0	0.232	0.18184	T	0.206	0.27056	T	0.001	0.07471	B	0.0	0.01387	B	0.001318	0.00768	N	2.593630	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-1.54	0.37375	N	0.091	0.06990	-1.0618	0.11312	T	0.052	0.22269	T	10	0.065090746	0.08731	T	0.010571	0.27259	T	0.099	0.28413	.	.	0.215109475489	0.21095	0.3285055207939453	0.32763	0.0340173804989	0.03570	0.18560321629	0.00157	T	0.004054	0.03463	T	-0.385173	0.02888	T	-0.485074	0.23908	T	0.0116740074008703	0.00178	T	0.315568	0.06432	T	0.058767997	0.11863	0.042029142	0.04911	0.058767997	0.11862	0.042029142	0.04911	-5.312	0.40062	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	0.776730	0.11468	8.072	0.86952591598843032	0.16886	0.00805	0.03273	N	AEFI	0.048289	0.08225	N	-1.54327534256006	0.01574	0.06877762	-1.60495884731145	0.01625	0.07375843	0.146186743356581	0.17362	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.04	-8.1	0.00957	-0.250000	0.08849	-1.348000	0.05654	-0.737000	0.03687	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1881:0.104:0.411:0.2969	2.199	0.03678	881	0.29269	WD40-repeat-containing domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	820.43	33	chr3	167531199	.	G	A	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=450;ExcessHet=0;FS=2.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=-4.201;QD=7.39;ReadPosRankSum=-0.147;SOR=0.983	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1665	9	0	1	0
chr3	169143748	169143748	C	A	exonic	MECOM	.	nonsynonymous SNV	MECOM:NM_001105077:exon3:c.G88T:p.A30S,MECOM:NM_001366466:exon3:c.G460T:p.A154S,MECOM:NM_001366473:exon3:c.G460T:p.A154S,MECOM:NM_004991:exon3:c.G460T:p.A154S	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Autosomal dominant	436	1039	45	2	0	49	0.0230371	.	.	.	3221779	MECOM-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0032	0.00678914	0.0047	0.0037	0.0029	0	0.0003	0.0032	0.0168	0.0159	0.0043725	676	154602	rs116535717	0.0030	0.0030	0.0025	0.0035	0.0203	0.0029	0.0029	0.0173	0.0162	0.0041	0.0026	0.0066	5.06e-05	7.505e-05	0.0203	0.0020	0.0041	0.0157	0.0040	0.0040	0.0037	0.0044	0.0170	0.0038	0.0037	0.0140	0.0129	0.0035	0.0581	0.0051	0.0104	0.0004	9.427e-05	0.0136	0.0029	0.0057	0.0170	0.003	0.68238	D	0.133	0.37449	T	0.548	0.38076	P	0.089	0.29769	B	.	.	.	.	0.529527	0.81001	D	.	.	.	2.93	0.76948	T	-1.11	0.31778	N	0.623	0.63798	-0.4302	0.71060	T	0.301	0.67195	T	9	0.007782936	0.00177	T	.	.	.	0.161	0.41658	.	.	0.597383033342	0.59418	0.343292361843405	0.34242	0.922736141103	0.71521	0.65283703804	0.60388	T	.	.	.	-0.282396	0.10415	T	-0.165445	0.57859	T	0.0180087818442308	0.00525	T	0.817418	0.47426	T	0.17458437	0.38271	0.17883569	0.40579	0.18525617	0.39879	0.21110153	0.45524	-7.376	0.56735	T	.	.	0.138	0.30264	B	.;.	.;.	4.257225	0.64674	24.7	0.99621839617057428	0.75473	0.97359	0.74250	D	AEFDBI	0.833764	0.75192	D	0.30786349462989	0.56551	3.820003	0.420312686123832	0.62833	4.505449	0.999999999992753	0.74766	0.627647	0.40530	0	0.59043	0.45803	0	0.563428	0.18855	0	0.657601	0.63696	0	.	.	6.07	6.07	0.98675	5.602000	0.67298	7.728000	0.67649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:1.0:0.0:0.0	20.659	0.99629	714	0.56256	.;SET domain|SET domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.023098	0.014620	0.000000	0.008621	0.018293	0.018939	0.05	812.43	33	chr3	169143748	.	C	A	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.22;DP=414;ExcessHet=0;FS=2.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=1.36;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	9	0	1	0
chr3	169779141	169779141	G	A	exonic	MYNN	.	nonsynonymous SNV	MYNN:NM_001185119:exon2:c.G640A:p.D214N,MYNN:NM_018657:exon3:c.G640A:p.D214N,MYNN:NM_001185118:exon4:c.G640A:p.D214N	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0113094508569	.	0.00139776	0.0008	0	0	0	0	0.0001	0.0022	0.0055	0.0006921	107	154602	rs576001456	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	0	1.873e-05	0.0002	9.892e-06	0.0002	0.0050	0.0002	0.0002	0.0001	0.0002	0.0041	0.0001	8.71e-05	0.0027	0.0023	0	0	6.531e-05	0	0	0	0	2.94e-05	0	0.0041	0.102	0.36113	T	0.083	0.54541	T	0.247	0.45051	B	0.053	0.48239	B	0.000013	0.62929	D	0.068240	0.842016	0.35082	D	1.04	0.26193	L	3.1	0.09915	T	-0.9	0.24244	N	0.363	0.46742	-1.0621	0.11239	T	0.033	0.14377	T	10	0.0066139996	0.00150	T	0.011309	0.28804	T	0.152	0.39956	0.479	0.55823	0.401489600333	0.39766	0.45263182784069655	0.45181	0.557485522285	0.52367	0.510761618614	0.40329	T	0.026002	0.19333	T	-0.637269	0.00086	T	-0.686664	0.06585	T	0.0639642173444031	0.07777	T	0.914409	0.69449	D	0.079107724	0.18053	0.08312063	0.19025	0.079107724	0.18053	0.08312063	0.19025	-3.952	0.23083	T	.	.	0.216	0.44579	B	.;.;.	.;.;.	2.788729	0.36656	20.3	0.99836362188435446	0.91714	0.95763	0.66050	D	AEFGBI	0.479937	0.52187	N	0.113127880898415	0.47073	2.93832	0.207888241833423	0.50285	3.222135	0.999999994343393	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	4.761000	0.61939	11.859000	0.98275	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.280000	0.24017	0.0:0.0:1.0:0.0	19.078	0.93151	530	0.73653	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1987.43	34	chr3	169779141	.	G	A	1987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.101;DP=476;ExcessHet=0;FS=2.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-1.446;SOR=0.492	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr3	169840173	169840173	G	-	exonic	LRRC31	.	frameshift deletion	LRRC31:NM_001277128:exon8:c.1300delC:p.L434Ffs*20,LRRC31:NM_024727:exon9:c.1468delC:p.L490Ffs*20	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs756601897	1.505e-05	1.505e-05	9.528e-06	2.063e-05	0.0002	9.85e-06	8.41e-06	1.093e-05	8.81e-06	0	2.236e-05	0	0	0	0.0002	1.709e-05	1.656e-05	0	3.286e-05	3.283e-05	5.14e-05	1.345e-05	5.88e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1645.39	83	chr3	169840172	.	AG	A	1645.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.985;DP=531;ExcessHet=0;FS=4.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-0.721;SOR=0.45	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	9	0	1	0
chr3	170293418	170293418	A	G	exonic	PRKCI	.	nonsynonymous SNV	PRKCI:NM_002740:exon14:c.A1327G:p.M443V	.	426	1095	1	0	0	1	0.000456413	.	.	.	2264322	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.294	0.0497275499708	.	0.000199681	3.295e-05	0	0	0.0001	0	4.496e-05	0	0	3.23e-05	5	154602	rs184216798	3.695e-05	3.694e-05	3.54e-05	3.851e-05	0.0006	2.895e-05	2.593e-05	0.0004	0.0003	0	0	0	0.0006	0	0	2.429e-05	1.656e-05	3.478e-05	4.602e-05	4.594e-05	1.286e-05	8.07e-05	0.0010	2.11e-05	1.527e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	2.94e-05	0	0	0.008	0.58626	D	0.068	0.44106	T	0.049	0.22227	B	0.027	0.21085	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.345	0.11182	N	1.89	0.23688	T	-2.31	0.51319	N	0.83	0.82559	-1.0555	0.12908	T	0.032	0.13942	T	9	0.54535645	0.63952	D	0.049728	0.63936	D	0.294	0.61388	.	.	0.867696279212	0.86641	0.8425775074444146	0.84218	1.72783042209	0.90689	0.886914432049	0.94870	D	0.366883	0.73205	T	0.0315702	0.55933	T	0.0720004	0.75045	D	0.223390521621338	0.21632	T	0.939806	0.77272	D	0.6635247	0.76087	0.46051735	0.68666	0.6635247	0.76089	0.46051735	0.68667	-14.724	0.95172	D	.	.	0.609	0.69251	P	.	.	4.178258	0.62878	24.5	0.99391852318847229	0.62383	0.98113	0.79708	D	AEFBI	0.871496	0.79293	D	-0.133785820280514	0.35926	2.069931	0.0663386931468414	0.42868	2.600601	0.995373204421519	0.34093	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	8.947000	0.92735	11.246000	0.90584	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	1.0:0.0:0.0:0.0	14.925	0.70512	808	0.43318	Protein kinase domain|Protein kinase domain|Protein kinase domain|Atypical protein kinase C iota type, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	320.43	35	chr3	170293418	.	A	G	320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.576;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.16;ReadPosRankSum=-0.224;SOR=0.631	GT:AD:DP:GQ:PL	0/1:35,17:52:99:332,0,848	9	0	1	0
chr3	170390318	170390318	G	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon4:c.G1387A:p.V463I,SKIL:NM_001248008:exon4:c.G1525A:p.V509I,SKIL:NM_005414:exon5:c.G1525A:p.V509I,SKIL:NM_001145098:exon6:c.G1465A:p.V489I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	0.00858626	0.0060	9.614e-05	0.0003	0.0001	0	1.498e-05	0.0033	0.0434	0.005084	786	154602	rs555227200	0.0026	0.0026	0.0014	0.0039	0.0423	0.0026	0.0025	0.0412	0.0407	8.961e-05	6.708e-05	0	7.558e-05	0	0.0026	9.892e-06	0.0025	0.0423	0.0014	0.0014	0.0007	0.0022	0.0439	0.0013	0.0012	0.0391	0.0372	9.633e-05	0	6.543e-05	0	0	0	0.0034	2.941e-05	0	0.0439	0.227	0.52492	T	0.459	0.13103	T	0.008	0.18677	B	0.022	0.22909	B	0.436475	0.12682	N	0.764973	1	0.08975	N	0	0.06538	N	-2.74	0.90735	D	-0.23	0.10656	N	0.086	0.10483	-0.5143	0.68128	T	0.493	0.80757	T	10	0.0030667186	0.00051	T	.	.	.	0.239	0.54358	0.4	0.42917	0.826835386655	0.82519	0.04690176099306565	0.04633	0.149256190456	0.16829	0.295313179493	0.09703	T	0.274296	0.64678	T	-0.429866	0.01485	T	-0.357392	0.38353	T	0.0300697229585	0.02001	T	0.657134	0.27986	T	0.03594847	0.04328	0.043122385	0.05293	0.03594847	0.04328	0.043122385	0.05293	-4.403	0.31084	T	.	.	0.087	0.16363	B	.;.;.;.	.;.;.;.	1.545064	0.19810	14.45	0.92811412567743035	0.22337	0.19403	0.20647	N	AEFBI	0.056160	0.10360	N	-0.630599898754659	0.18030	0.9327873	-0.542562058118746	0.21003	1.134198	0.980502808707806	0.30144	0.706548	0.73137	0	0.614415	0.52539	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.254000	0.42868	8.501000	0.77359	0.604000	0.46097	0.028000	0.20300	1.000000	0.68203	0.006000	0.07323	0.0763:0.0:0.9237:0.0	12.614	0.55923	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.011364	0.05	2343.43	33	chr3	170390318	.	G	A	2343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.334;DP=494;ExcessHet=0;FS=1.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.637;SOR=0.838	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1163	9	0	1	0
chr3	170391046	170391046	T	A	exonic	SKIL	.	nonsynonymous SNV	SKIL:NM_001145097:exon5:c.T1544A:p.M515K,SKIL:NM_001248008:exon5:c.T1682A:p.M561K,SKIL:NM_005414:exon6:c.T1682A:p.M561K,SKIL:NM_001145098:exon7:c.T1622A:p.M541K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.0731110632567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.023	0.57104	D	0.369	0.49136	B	0.055	0.43123	B	0.000003	0.62929	D	0.141386	0.992758	0.44011	D	1.1	0.28011	L	-2.8	0.91134	D	-1.45	0.35597	N	0.755	0.75374	0.073	0.83669	D	0.583	0.85021	D	10	0.54011893	0.63671	D	0.073111	0.71706	D	0.478	0.76946	0.389	0.41115	0.957082704375	0.95662	0.1796630574896897	0.17885	0.369167158329	0.38448	0.758547067642	0.75713	T	0.465587	0.80067	T	0.179726	0.72017	D	0.0203873	0.71654	D	0.62943862605638	0.37594	D	0.857114	0.55771	D	0.5711622	0.71124	0.55920494	0.74498	0.5711622	0.71125	0.55920494	0.74499	-1.509	0.03081	T	.	.	0.415	0.64108	A	.;.;.;.	.;.;.;.	2.736417	0.35835	20.0	0.96293995319853831	0.29325	0.99015	0.89987	D	AEFBI	0.614249	0.60164	D	0.0339176012928578	0.43403	2.633962	0.148840552295434	0.47081	2.94371	0.999715917979301	0.42101	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.96	5.96	0.96695	5.505000	0.66698	7.826000	0.69930	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.0:1.0	16.428	0.83664	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	791.43	33	chr3	170391046	.	T	A	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=0.377;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1068	9	0	1	0
chr3	172295450	172295450	C	A	exonic	FNDC3B	.	nonsynonymous SNV	FNDC3B:NM_001135095:exon8:c.C937A:p.P313T,FNDC3B:NM_022763:exon8:c.C937A:p.P313T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00810622615147	.	0.000399361	0.0007	0	0	0.0001	0	2.997e-05	0	0.0046	0.0005239	81	154602	rs555695775	0.0003	0.0003	0.0001	0.0004	0.0045	0.0003	0.0003	0.0041	0.0040	0	2.236e-05	0	0	0	0.0003	6.296e-06	0.0002	0.0045	0.0002	0.0002	8.994e-05	0.0002	0.0046	0.0001	9.231e-05	0.0031	0.0026	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0046	0.092	0.31682	T	0.113	0.36901	T	0.221	0.30336	B	0.246	0.38861	B	0.000001	0.84330	D	0.097214	0.838426	0.35027	D	0.235	0.09667	N	0.43	0.56772	T	-2.35	0.51968	N	0.181	0.21969	-0.9801	0.34979	T	0.134	0.44700	T	10	0.008096218	0.00184	T	0.008106	0.21495	T	0.116	0.32463	0.443	0.49975	0.171220215726	0.16700	0.4019756284087958	0.40113	0.761476978541	0.64281	0.574085831642	0.49255	T	0.098924	0.40322	T	-0.476345	0.00777	T	-0.45606	0.27030	T	0.149171564207564	0.17037	T	0.755224	0.37818	T	0.20746177	0.42952	0.13956109	0.33296	0.19216152	0.40875	0.14004917	0.33395	-5.331	0.40249	T	.	.	0.248	0.48624	B	.;.;.	.;.;.	3.100322	0.41782	21.4	0.99677429846915178	0.79043	0.62573	0.31823	D	AEFBHCI	0.081810	0.16559	N	0.155143756783092	0.49056	3.110297	0.290316180966948	0.54972	3.660936	0.999999819556546	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.67347	0.61138	0	0.711	0.71501	0	.	.	5.98	5.06	0.67838	0.975000	0.29046	3.892000	0.40300	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.982000	0.59238	0.1581:0.6102:0.1522:0.0795	4.643	0.11947	929	0.16858	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	646.43	47	chr3	172295450	.	C	A	646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=408;ExcessHet=0;FS=1.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.26;ReadPosRankSum=-0.45;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	9	0	1	0
chr3	172913684	172913684	G	A	exonic	SPATA16	.	nonsynonymous SNV	SPATA16:NM_031955:exon10:c.C1564T:p.R522C	.	19	1502	1	0	0	1	0.000332779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0143880647917	.	.	4.142e-05	0	0.0002	0	0	4.52e-05	0	0	4.53e-05	7	154602	rs762334045	3.421e-05	3.557e-05	4.766e-05	2.063e-05	0.0002	2.632e-05	2.375e-05	2.201e-05	1.942e-05	0	6.709e-05	0	0	0	0.0002	3.058e-05	0.0002	2.319e-05	5.264e-05	5.256e-05	3.857e-05	6.738e-05	0.0002	2.56e-05	1.832e-05	5.295e-05	2.838e-05	0	0	0.0002	0	0	0	0	7.354e-05	0	0	0.042	0.41637	D	0.057	0.46406	T	0.219	0.30243	B	0.034	0.22546	B	0.000113	0.50451	D	0.087777	0.993773	0.42049	D	2.52	0.73523	M	1.76	0.25996	T	-1.68	0.40082	N	0.382	0.42345	-1.0885	0.05787	T	0.039	0.16849	T	10	0.1573649	0.29616	T	0.014388	0.34475	T	0.108	0.30607	0.293	0.25560	0.579660715472	0.57637	0.41724353300516226	0.41640	0.569911218611	0.53157	0.403659045696	0.25578	T	0.026675	0.19691	T	-0.182971	0.23295	T	-0.324755	0.42050	T	0.286437094211578	0.24441	T	0.830717	0.49671	T	0.10258988	0.24243	0.092737354	0.21870	0.10258988	0.24243	0.092737354	0.21869	-5.442	0.41321	T	0.2317333923796596	0.31360	0.096	0.15564	B	.	.	3.937181	0.57590	23.9	0.99878306680473783	0.95491	0.82928	0.42093	D	AEFGBHCI	0.685357	0.64739	D	0.0328437394570617	0.43355	2.629971	0.2132276807739	0.50580	3.248612	0.999847514635074	0.43971	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.47	4.59	0.56297	4.596000	0.60764	5.246000	0.48078	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0792:0.0:0.9208:0.0	11.971	0.52354	867	0.32089	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.005155	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1206.43	33	chr3	172913684	.	G	A	1206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.685;DP=396;ExcessHet=0;FS=2.738;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.024;SOR=0.457	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	9	0	1	0
chr3	175097119	175097119	G	A	exonic	NAALADL2	.	nonsynonymous SNV	NAALADL2:NM_207015:exon2:c.G373A:p.V125I	.	434	1053	34	1	0	36	0.0168067	.	.	.	2825066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.015	0.00447888518192	0.0035	0.00259585	0.0038	0.0011	0.0018	0.0001	0.0011	0.0040	0.0078	0.0083	0.0037063	573	154602	rs150099163	0.0048	0.0049	0.0047	0.0050	0.0205	0.0047	0.0047	0.0175	0.0163	0.0007	0.0018	0.0010	0.0001	0.0008	0.0205	0.0052	0.0048	0.0085	0.0027	0.0027	0.0027	0.0026	0.0066	0.0025	0.0024	0.0048	0.0042	0.0009	0	0.0014	0.0003	0.0002	0.0010	0.0102	0.0043	0.0038	0.0066	0.771	0.06361	T	0.854	0.03467	T	0.0	0.02946	B	0.0	0.01387	B	0.105542	0.19653	N	0.429836	0.998641	0.22015	N	-0.345	0.03330	N	1.55	0.32238	T	0.77	0.04533	N	0.055	0.02658	-0.9998	0.29973	T	0.025	0.10733	T	10	0.0059213936	0.00133	T	0.004479	0.11000	T	0.015	0.02232	.	.	0.252681307341	0.24864	0.21323671557192497	0.21239	0.00554430502613	0.00483	0.357524544001	0.19025	T	5.84E-4	0.00238	T	-0.72242	0.00027	T	-0.804651	0.01788	T	0.000693492399160385	0.00006	T	.	.	.	0.0219331	0.00824	0.025898132	0.00653	0.0219331	0.00824	0.025898132	0.00653	-3.954	0.23113	T	.	.	0.060	0.01348	B	.;.	.;.	1.754489	0.22316	15.57	0.7172783565237294	0.09728	0.20340	0.21005	N	AEFI	0.018937	0.00614	N	-1.03140614615359	0.07958	0.3714528	-0.89515998452017	0.12208	0.6266306	1.16264531551251E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.72	0.72	0.17368	0.118000	0.15436	0.831000	0.21948	-0.172000	0.11096	0.716000	0.28781	0.308000	0.24257	0.862000	0.40904	0.4399:0.3354:0.0925:0.1322	3.534	0.07341	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020645	0.010101	0.021739	0.043860	0.000000	0.051724	0.006098	0.022727	0.05	1555.43	111	chr3	175097119	.	G	A	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=980;ExcessHet=0;FS=4.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.49;SOR=0.417	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1567,0,1917	9	0	1	0
chr3	179240022	179240022	T	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_001163677:exon4:c.A496G:p.T166A	.	763	722	33	4	0	41	0.0276094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0035	0.00698882	0.0188	0	0.0122	0.0032	0.0006	0.0105	0	0.0389	0.0034088	527	154602	rs184550595	0.0073	0.0071	0.0063	0.0084	0.0414	0.0072	0.0072	0.0402	0.0397	0.0008	0.0041	0.0289	0.0003	0.0011	0.0301	0.0050	0.0094	0.0414	0.0056	0.0056	0.0049	0.0064	0.0441	0.0053	0.0052	0.0393	0.0374	0.0013	0	0.0071	0.0326	0.0004	0.0011	0.0170	0.0047	0.0133	0.0441	0.157	0.23997	T	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.99799	0.81001	N	.	.	.	2.26	0.17596	T	-0.81	0.22294	N	0.111	0.09772	-1.0142	0.25593	T	0.024	0.10374	T	9	0.0035863519	0.00065	T	.	.	.	0.061	0.17616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562205	0.00246	T	-0.551777	0.17155	T	0.012226413319391	0.00197	T	0.29997	0.05606	T	.	.	.	.	.	.	.	.	-3.779	0.20491	T	.	.	0.137	0.29941	B	.	.	1.620727	0.20700	14.87	0.9940360828791398	0.62934	0.83452	0.42568	D	AEFGI	0.206643	0.33289	N	-0.0184429246067715	0.41021	2.446306	0.0663263132403697	0.42868	2.60055	0.677897955158269	0.22446	0.643511	0.44296	0	0.688494	0.66719	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.35	4.35	0.51454	3.584000	0.53680	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	11.973	0.52364	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019330	0.005376	0.009615	0.009009	0.000000	0.000000	0.018750	0.050000	0.1	816.14	33	chr3	179240022	.	T	C	816.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=335;ExcessHet=0.2348;FS=5.395;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.99;MQRankSum=0;QD=12.56;ReadPosRankSum=1.27;SOR=1.416	GT:AD:DP:GQ:PL	0/1:16,13:29:99:321,0,397	8	0	2	0
chr3	179604915	179604915	A	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon1:c.A100C:p.T34P,NDUFB5:NM_001199958:exon1:c.A100C:p.T34P,NDUFB5:NM_002492:exon1:c.A100C:p.T34P	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0075	0.00479233	0.0103	0.0011	0.0075	0	0.0215	0.0136	0.0184	0.0048	0.0086545	1338	154602	rs35399127	0.0092	0.0092	0.0093	0.0091	0.0415	0.0091	0.0090	0.0372	0.0355	0.0028	0.0066	0.0255	5.081e-05	0.0176	0.0415	0.0092	0.0105	0.0041	0.0080	0.0080	0.0073	0.0087	0.0099	0.0076	0.0075	0.0090	0.0088	0.0017	0.0044	0.0099	0.0234	0	0.0199	0.0408	0.0096	0.0105	0.0025	0.079	0.55530	T	0.136	0.44702	T	0.994	0.66517	D	0.925	0.65999	D	0.017428	0.27726	N	0.392684	0.999622	0.20843	N	2.74	0.80084	M	0.88	0.53731	T	-1.85	0.45769	N	0.353	0.56231	-0.9317	0.43889	T	0.145	0.46859	T	10	0.009079367	0.00205	T	.	.	.	0.202	0.48754	.	.	0.534814951121	0.53131	0.7674110700333394	0.76690	0.646346701716	0.58049	0.545248329639	0.45187	T	0.081848	0.36692	T	-0.35028	0.04709	T	-0.266534	0.48170	T	0.0529844322233862	0.06016	T	0.70273	0.32446	T	0.33476305	0.55858	0.3759712	0.62729	0.33476305	0.55858	0.3759712	0.62729	-2.545	0.10887	T	.	.	0.083	0.15160	B	.;.;.;.	.;.;.;.	3.385467	0.46848	22.4	0.99351467137641836	0.60615	0.02986	0.07840	N	ALL	0.174802	0.30195	N	0.084213362616481	0.45728	2.824432	0.0279185460009141	0.41016	2.457187	0.999999999957909	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.75	2.03	0.25714	0.473000	0.21843	0.748000	0.21214	-0.053000	0.16966	0.458000	0.26628	0.000000	0.08366	0.993000	0.69303	0.5101:0.323:0.1668:0.0	4.583	0.11663	698	0.58074	.;.;.;.	.	.	.	.	rs35399127	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.036364	0.015306	0.051630	0.061404	0.100000	0.043103	0.009202	0.015267	0.05	475.43	33	chr3	179604915	.	A	C	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=374;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.91;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,963	9	0	1	0
chr3	179623956	179623956	G	A	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199958:exon5:c.G379A:p.E127K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005692	88	154602	rs540303121	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	5.974e-05	0	0	5.042e-05	0	0.0002	0	0.0002	0.0055	0.0002	0.0002	3.856e-05	0.0003	0.0041	0.0001	8.715e-05	0.0027	0.0023	2.406e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0041	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998659	0.22008	N	.	.	.	.	.	.	-1.4	0.34596	N	0.184	0.19995	-0.9281	0.44415	T	0.100	0.37060	T	5	0.00621444	0.00140	T	.	.	.	0.042	0.11227	0.267	0.21418	0.241078983079	0.23725	.	.	.	.	.	.	.	0.030722	0.21710	T	-0.718597	0.00028	T	-0.803625	0.01813	T	0.0435167100443978	0.04332	T	0.505449	0.15971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.07036	B	.;.	.;.	-0.244546	0.02871	0.407	0.98364977688099753	0.40689	0.03447	0.08590	N	AEFBI	0.091057	0.18447	N	-0.571657612284894	0.19810	1.040	-0.747494824965521	0.15784	0.8318478	0.00356994469855629	0.10179	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	-2.48	0.06052	-0.270000	0.08614	-2.071000	0.04257	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.072000	0.16771	0.4378:0.2659:0.2963:0.0	5.532	0.16281	696	0.58299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	455.43	36	chr3	179623956	.	G	A	455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.301;DP=358;ExcessHet=0;FS=3.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=1.25;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	9	0	1	0
chr3	180661985	180661985	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon3:c.G233A:p.R78H	Ciliary dyskinesia, primary, 14	1	1503	18	0	0	18	0.00595238	.	.	.	221375	Primary_ciliary_dyskinesia_14|not_specified|not_provided|Primary_ciliary_dyskinesia	MONDO:MONDO:0013434,MedGen:C3151136,OMIM:613807,Orphanet:244|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	.	0.0055	0.00599042	0.0122	0.0023	0	0	0.0101	0.0112	0.0075	0.0196	0.0044954	695	154602	rs115952495	0.0067	0.0066	0.0064	0.0069	0.0177	0.0065	0.0065	0.0169	0.0166	0.0011	0.0011	0.0161	0.0001	0.0082	0.0021	0.0062	0.0061	0.0177	0.0047	0.0047	0.0046	0.0048	0.0183	0.0044	0.0043	0.0152	0.0140	0.0013	0.0121	0.0007	0.0147	0.0004	0.0088	0	0.0059	0.0028	0.0183	0.419	0.14843	T	0.678	0.06147	T	0.007	0.14184	B	0.004	0.10090	B	0.877839	0.08777	N	0.953795	0.999664	0.21738	N	-0.225	0.03956	N	-1.14	0.77843	T	-1.74	0.41239	N	0.206	0.22870	-0.9124	0.46556	T	0.189	0.54079	T	10	0.0032339096	0.00055	T	.	.	.	0.119	0.33137	.	.	0.646061630353	0.64312	.	.	0.0624283650385	0.06944	0.21579477191	0.01081	T	0.004028	0.03443	T	-0.434208	0.01399	T	-0.38286	0.35386	T	0.00574437150263712	0.00063	T	0.592541	0.21854	T	0.038637057	0.05186	0.04981648	0.07692	0.034333773	0.03834	0.04981648	0.07692	-4.525	0.31214	T	.	.	.	.	.	.;.	.;.	0.823680	0.11949	8.510	0.96993205610494304	0.31912	0.04223	0.09740	N	AEFI	0.063656	0.12314	N	-0.770989148451699	0.14071	0.6979478	-0.64773034688136	0.18274	0.9754879	0.00685963275058952	0.11325	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.38	2.63	0.30420	0.724000	0.25624	-0.064000	0.12386	-0.181000	0.10308	0.350000	0.25759	0.000000	0.08366	0.256000	0.23417	0.0:0.2889:0.0:0.7111	8.560	0.32668	524	0.74079	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005086	0.000000	0.002755	0.000000	0.000000	0.000000	0.000000	0.019084	0.05	1978.43	145	chr3	180661985	.	C	T	1978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=470;ExcessHet=0;FS=1.374;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.075;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	9	0	1	0
chr3	182945111	182945111	T	C	exonic	DCUN1D1	.	nonsynonymous SNV	DCUN1D1:NM_001308101:exon7:c.A718G:p.K240E,DCUN1D1:NM_020640:exon7:c.A763G:p.K255E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.00419115776246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.084	0.41239	T	0.262	0.31549	B	0.08	0.28873	B	0.000000	0.84330	D	0.043215	0.999994	0.58761	D	2.125	0.59049	M	.	.	.	-1.81	0.42575	N	0.453	0.52563	-0.7886	0.55811	T	0.223	0.58729	T	9	0.23855856	0.40979	T	0.004191	0.10089	T	0.313	0.63482	0.182	0.09004	0.564436246954	0.56107	0.3325625777151116	0.33169	1.20666199656	0.80720	0.768774628639	0.77241	T	0.056508	0.30306	T	0.0999902	0.64292	D	-0.0941475	0.63848	T	0.634441143879164	0.37802	D	0.881612	0.60121	D	0.82129544	0.85307	0.70887744	0.82831	0.82129544	0.85309	0.70887744	0.82832	-5.728	0.43942	T	.	.	0.240	0.49769	B	.;.;.	.;.;.	4.271155	0.64981	24.8	0.99521621500792379	0.69284	0.99593	0.97790	D	AEBI	0.878050	0.80307	D	0.208639416148252	0.51616	3.341551	0.366147588349887	0.59486	4.126894	0.999999996103556	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.497000	0.80382	7.888000	0.72886	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.359	0.83084	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	760.43	33	chr3	182945111	.	T	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=387;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=1.68;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	9	0	1	0
chr3	183379378	183379378	G	A	exonic	MCF2L2	.	nonsynonymous SNV	MCF2L2:NM_015078:exon3:c.C194T:p.T65M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.042092774022	0.0003	.	0.0003	0	0.0003	0	0	0.0005	0	0	0.0002458	38	154602	rs200353022	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0.0005	0.0040	0	9.368e-05	0.0002	0.0002	0.0005	0	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0	0	0.0004	0.0029	0	9.422e-05	0	0.0002	0.0005	0	0.001	0.78490	D	0.007	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	0.000721	0.42129	D	0.214818	0.692141	0.33337	D	2.75	0.80375	M	-0.05	0.63403	T	-4.02	0.80340	D	0.808	0.81957	0.237	0.86537	D	0.446	0.78209	T	10	0.034393996	0.01646	T	0.042093	0.60282	D	0.314	0.63588	.	.	0.863614663845	0.86229	0.8776161832569945	0.87728	0.714357934396	0.61881	0.595325767994	0.52245	T	0.077352	0.35633	T	-0.0926492	0.37638	T	-0.0807176	0.64851	T	0.294734567403793	0.24786	T	0.983302	0.94582	D	0.2013564	0.42143	0.25767472	0.51488	0.2013564	0.42143	0.25767472	0.51487	-9.737	0.72480	D	.	.	0.228	0.46037	B	.;.;.;.;.;.	.;.;.;.;.;.	4.741089	0.76452	26.5	0.99901175500161477	0.97275	0.87529	0.47098	D	AEFBI	0.454476	0.50717	N	0.673489635596879	0.77896	6.763797	0.603698854282559	0.75210	6.27009	0.919846800638901	0.26614	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.47	4.59	0.56297	5.080000	0.64267	8.706000	0.78122	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0786:0.0:0.9214:0.0	13.180	0.59069	506	0.75555	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.;.;.;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1824.43	33	chr3	183379378	.	G	A	1824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.866;DP=497;ExcessHet=0;FS=2.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.162;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1337	9	0	1	0
chr3	183842385	183842385	C	T	exonic	PARL	.	nonsynonymous SNV	PARL:NM_001324436:exon6:c.G670A:p.A224T,PARL:NM_001324438:exon6:c.G670A:p.A224T,PARL:NM_018622:exon6:c.G670A:p.A224T	.	463	1056	3	0	0	3	0.00141844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0104597737322	7.7e-05	0.000798722	0.0002	0	0	0	0	7.492e-05	0	0.0014	0.000207	32	154602	rs141197365	0.0001	0.0001	7.355e-05	0.0002	0.0014	9.945e-05	9.353e-05	0.0012	0.0011	2.989e-05	0	0	0	0	0.0009	3.329e-05	9.94e-05	0.0014	6.566e-05	6.562e-05	2.57e-05	0.0001	0.0015	3.514e-05	2.615e-05	0.0007	0.0005	0	0	0	0	0	0	0	2.939e-05	0.0005	0.0015	0.009	0.57480	D	0.202	0.41405	T	0.417	0.35244	B	0.348	0.42747	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	2.46	0.14907	T	-3.03	0.62747	D	0.759	0.75742	-1.1147	0.02696	T	0.074	0.29834	T	10	0.038560808	0.02283	T	0.01046	0.27023	T	0.157	0.40909	.	.	0.791909632029	0.78998	0.7633246945798007	0.76280	0.443894212982	0.44312	0.775586724281	0.78262	T	0.097965	0.40131	T	-0.266188	0.12185	T	-0.195671	0.55057	T	0.176796166674185	0.19031	T	0.955404	0.93912	D	0.5626092	0.70654	0.5523235	0.74112	0.5626092	0.70655	0.5523235	0.74113	-10.838	0.78762	D	.	.	0.410	0.61306	A	.;.;.;.	.;.;.;.	4.630766	0.73628	26.0	0.99522985631083893	0.69346	0.98147	0.80004	D	AEFBI	0.618740	0.60444	D	0.34576785446088	0.58516	4.024368	0.42534571130758	0.63148	4.542946	0.999999996339948	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	6.060000	0.70773	7.650000	0.63651	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.363	0.94435	572	0.70300	.;Peptidase S54, rhomboid domain;Peptidase S54, rhomboid domain;Peptidase S54, rhomboid domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1506.43	34	chr3	183842385	.	C	T	1506.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.714;DP=489;ExcessHet=0;FS=2.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=-1.733;SOR=0.915	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1156	9	0	1	0
chr3	184038160	184038160	T	C	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon4:c.T281C:p.V94A,HTR3D:NM_001145143:exon6:c.T656C:p.V219A,HTR3D:NM_001163646:exon6:c.T800C:p.V267A	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.103259138762	0.0012	0.000599042	0.0011	0.0006	0.0003	0.0001	0	0.0018	0.0033	6.057e-05	0.0010414	161	154602	rs140918539	0.0013	0.0013	0.0013	0.0013	0.0158	0.0013	0.0013	0.0132	0.0122	0.0007	0.0004	0.0064	2.519e-05	3.744e-05	0.0158	0.0014	0.0019	0.0002	0.0013	0.0013	0.0013	0.0012	0.0016	0.0011	0.0011	0.0013	0.0012	0.0010	0	0.0005	0.0078	0	0	0.0204	0.0016	0.0009	0.0002	0.002	0.78490	D	0.004	0.76473	D	0.181	0.53761	B	0.234	0.57175	B	0.000235	0.47286	D	0.085968	0.967287	0.26710	N	1.735	0.44892	L	-2.36	0.88143	D	-2.16	0.50502	N	0.367	0.42345	0.014	0.82531	D	0.690	0.89305	D	10	0.011143684	0.00245	T	0.103259	0.77719	D	0.370	0.68930	.	.	0.814455882331	0.81271	0.13543462610388268	0.13467	0.47388134573	0.46591	.	.	.	0.389313	0.74977	T	-0.251895	0.13867	T	-0.159234	0.58420	T	0.0993764028687915	0.12288	T	0.828517	0.56452	T	0.42431134	0.62378	0.37596616	0.62729	0.42431134	0.62378	0.37596616	0.62729	-7.115	0.59070	T	.	.	0.263	0.54477	B	.;.;.;.	.;.;.;.	2.602154	0.33775	19.44	0.92679155893934784	0.22164	0.92035	0.54801	D	AEFDGBHCI	0.686287	0.64801	D	-0.0653186347412493	0.38920	2.287073	-0.144769541592615	0.33610	1.924366	0.999904356209832	0.45458	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	3.22	3.22	0.36041	7.098000	0.76628	1.964000	0.29952	0.601000	0.45875	1.000000	0.71638	0.080000	0.22369	0.134000	0.19723	0.0:0.0:0.0:1.0	9.811	0.39990	238	0.90711	Neurotransmitter-gated ion-channel transmembrane domain;.;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.005435	0.020468	0.000000	0.034483	0.000000	0.000000	0.05	2731.43	73	chr3	184038160	.	T	C	2731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.62;DP=680;ExcessHet=0;FS=1.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.688;SOR=0.593	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1755	9	0	1	0
chr3	184054817	184054817	G	A	exonic	HTR3C	.	nonsynonymous SNV	HTR3C:NM_130770:exon2:c.G164A:p.R55H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.0422755133101	7.7e-05	0.000399361	2.485e-05	0.0002	8.64e-05	0	0	0	0	0	3.23e-05	5	154602	rs369321709	2.258e-05	2.326e-05	2.178e-05	2.338e-05	0.0001	1.61e-05	1.417e-05	4.36e-05	2.768e-05	5.977e-05	0.0001	0	0	0	0	2.069e-05	3.313e-05	1.16e-05	4.597e-05	4.593e-05	2.57e-05	6.716e-05	0.0002	2.108e-05	1.526e-05	3.243e-05	1.911e-05	9.626e-05	0	0.0001	0	0	0	0	0	0	0.0002	0.04	0.42199	D	0.001	0.83351	D	0.403	0.34918	B	0.221	0.37837	B	0.000908	0.41128	D	0.201300	0.989419	0.24298	N	3.19	0.88972	M	-1.7	0.83072	D	-3.32	0.66085	D	0.364	0.40565	-0.1157	0.79735	T	0.593	0.85434	D	10	0.29142284	0.46721	T	0.042276	0.60377	D	0.433	0.73879	.	.	0.827418136221	0.82578	0.36468861088352944	0.36382	0.318795421449	0.34097	0.20433242619	0.00593	T	0.428059	0.77733	T	-0.138832	0.30077	T	-0.20053	0.54597	T	0.456204384565353	0.31025	T	0.720728	0.33361	T	0.1659983	0.36908	0.14672334	0.34751	0.1659983	0.36907	0.14672334	0.34750	-8.827	0.66576	D	.	.	0.123	0.25882	B	.	.	2.985836	0.39842	21.0	0.99906208976484978	0.97651	0.86226	0.45466	D	AEFBI	0.239623	0.36155	N	0.17117969647644	0.49818	3.178137	0.145030611957613	0.46881	2.926812	0.0356758576324654	0.14211	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	2.64	0.30504	3.273000	0.51326	0.317000	0.17144	0.676000	0.76740	0.906000	0.31575	0.000000	0.08366	0.905000	0.44082	0.1957:0.0:0.8042:0.0	8.223	0.30714	296	0.88164	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3000.43	34	chr3	184054817	.	G	A	3000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=552;ExcessHet=0;FS=2.909;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=2.04;SOR=0.56	GT:AD:DP:GQ:PL	0/1:107,125:232:99:3012,0,2291	9	0	1	0
chr3	184056279	184056279	G	A	exonic	HTR3C	.	nonsynonymous SNV	HTR3C:NM_130770:exon4:c.G382A:p.V128M	.	421	1096	4	1	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0117035893703	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0002	0.0011	0.0013	0.0002393	37	154602	rs142791028	0.0002	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0011	0.0011	8.984e-05	0	0.0010	0	0	0.0009	0.0001	0.0002	0.0013	8.536e-05	8.53e-05	5.14e-05	0.0001	0.0010	4.954e-05	3.96e-05	0.0004	0.0003	4.811e-05	0	0	0	0	0	0	7.35e-05	0.0005	0.0010	0.237	0.17881	T	0.235	0.24767	T	0.075	0.24198	B	0.035	0.22741	B	0.262280	0.03717	N	1.553000	1	0.08975	N	1.14	0.29013	L	-1.21	0.78645	T	-0.29	0.11728	N	0.045	0.01740	-0.7261	0.59159	T	0.299	0.66998	T	10	0.009628385	0.00217	T	0.011704	0.29585	T	0.253	0.56294	.	.	0.241078983079	0.23725	0.032318001388836365	0.03179	0.0527717303981	0.05814	0.251480221748	0.03926	T	0.031525	0.22080	T	-0.551015	0.00288	T	-0.604804	0.12410	T	0.0491406809866012	0.05349	T	0.0343966	0.00231	T	0.040184326	0.05690	0.050479844	0.07932	0.040184326	0.05689	0.050479844	0.07932	-6.342	0.49055	T	.	.	0.077	0.06479	B	.	.	-1.189384	0.00542	0.013	0.71730633082412976	0.09729	0.00117	0.00738	N	AEFBI	0.024336	0.01490	N	-2.27265283191488	0.00053	0.002252872	-2.39333790520008	0.00041	0.001787295	0.999999641868984	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.77	-9.53	0.00484	-3.552000	0.00484	-9.949000	0.00757	-5.783000	0.00007	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1972:0.0697:0.5854:0.1477	9.050	0.35534	310	0.87484	Neurotransmitter-gated ion-channel ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1824.43	36	chr3	184056279	.	G	A	1824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=477;ExcessHet=0;FS=0.585;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.678;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	9	0	1	0
chr3	184097546	184097546	T	C	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256613:exon1:c.T17C:p.F6S,HTR3E:NM_198313:exon1:c.T17C:p.F6S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	.	.	0.00539137	0.0011	0.0268	0	0	0	0	0	0.0001	0.000414	64	154602	rs141876588	0.0005	0.0005	0.0006	0.0004	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0006	0	0	0	0.0012	4.635e-06	0.0013	8.835e-05	0.0057	0.0057	0.0060	0.0054	0.0203	0.0054	0.0052	0.0192	0.0187	0.0203	0	0.0009	0	0	0	0	2.941e-05	0.0024	0	0.258	0.16683	T	0.409	0.14588	T	0.001	0.09854	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-1.12	0.77593	T	0.01	0.06868	N	0.221	0.35194	-1.0001	0.29888	T	0.111	0.39982	T	8	0.002851963	0.00045	T	.	.	.	0.144	0.38394	.	.	0.324161360171	0.32030	.	.	.	.	.	.	.	5.85E-4	0.00238	T	-0.437452	0.01339	T	-0.38489	0.35148	T	0.0149488448467955	0.00319	T	0.204979	0.02394	T	0.051119152	0.09341	0.11011364	0.26547	0.051119152	0.09340	0.11011364	0.26546	-2.55	0.06132	T	.	.	0.104	0.18950	B	.;.	.;.	0.850572	0.12226	8.771	0.84094208226970979	0.15093	0.00648	0.02824	N	AEFDGI	0.026440	0.01987	N	-1.08929741401198	0.06840	0.3159968	-1.20546653196143	0.05821	0.2784674	0.863204157789369	0.25266	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.33	-6.38	0.01784	-0.501000	0.06479	-0.786000	0.07434	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0:0.3301:0.4633:0.2066	6.139	0.19468	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1571.43	36	chr3	184097546	.	T	C	1571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.393;DP=462;ExcessHet=0;FS=0.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-2.162;SOR=0.756	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1179	9	0	1	0
chr3	184106595	184106595	T	G	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256614:exon7:c.T1351G:p.L451V,HTR3E:NM_198314:exon7:c.T1273G:p.L425V,HTR3E:NM_182589:exon8:c.T1318G:p.L440V,HTR3E:NM_198313:exon8:c.T1228G:p.L410V,HTR3E:NM_001256613:exon9:c.T1273G:p.L425V	.	417	1104	1	0	0	1	0.000452694	.	.	.	720318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0068	0.00519169	0.0018	0.0174	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0.0016623	257	154602	rs149134892	0.0006	0.0006	0.0007	0.0005	0.0188	0.0006	0.0005	0.0176	0.0171	0.0188	0.0005	0.0006	0.0006	5.616e-05	0.0014	5.576e-05	0.0012	0.0002	0.0055	0.0055	0.0056	0.0054	0.0192	0.0052	0.0050	0.0181	0.0177	0.0192	0	0.0010	0.0006	0.0004	0	0	0.0001	0.0028	0	1.0	0.02372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.038145	0.24318	N	0.297406	1	0.08975	N	-1.145	0.00921	N	-1.56	0.81815	D	1.19	0.01246	N	0.047	0.06059	-0.9205	0.45486	T	0.108	0.39075	T	10	0.0042127967	0.00084	T	.	.	.	0.181	0.45247	.	.	0.508875229312	0.50527	0.11231456028274468	0.11160	0.0571996759005	0.06330	0.317551642656	0.13049	T	9.42E-4	0.00494	T	-0.561691	0.00248	T	-0.565327	0.15880	T	0.0020096774383134	0.00021	T	0.0934907	0.00694	T	0.03469523	0.03943	0.03561062	0.02847	0.03469523	0.03943	0.03561062	0.02846	0.348	0.00325	T	.	.	0.054	0.00793	B	.;.;.;.;.	.;.;.;.;.	0.245752	0.06257	2.709	0.71916439245521535	0.09792	0.03953	0.09355	N	AEFDGI	0.031509	0.03385	N	-0.926962697143147	0.10215	0.4870712	-0.72343518805715	0.16377	0.8661002	0.00115866671105967	0.08283	0.487112	0.14033	0	0.55458	0.17659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	3.11	0.34883	0.685000	0.25058	1.430000	0.26439	-0.852000	0.02700	0.944000	0.32806	0.943000	0.28828	0.454000	0.27984	0.0:0.1892:0.6146:0.1962	7.171	0.24895	675	0.60470	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	3270.43	37	chr3	184106595	.	T	G	3270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=723;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=-5.173;QD=8.94;ReadPosRankSum=0.725;SOR=0.59	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1196	9	0	1	0
chr3	184240010	184240010	G	A	exonic	VWA5B2	.	nonsynonymous SNV	VWA5B2:NM_001320373:exon13:c.G2060A:p.G687E,VWA5B2:NM_138345:exon15:c.G2714A:p.G905E	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.003542182129	.	0.000199681	0.0007	0	0	0	0	0	0	0.0017	6.47e-05	10	154602	rs553549547	0.0001	9.577e-05	3.534e-05	0.0002	0.0016	8.636e-05	8.154e-05	0.0014	0.0013	0	0	0	0	0	0.0011	4.641e-06	1.729e-05	0.0016	3.94e-05	3.937e-05	1.285e-05	6.713e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.00964	T	0.906	0.02996	T	0.003	0.11197	B	0.003	0.08700	B	0.278242	0.14994	N	0.553652	1	0.81001	D	.	.	.	3.11	0.15376	T	0.15	0.05310	N	0.105	0.15328	-0.9912	0.32295	T	0.020	0.08593	T	10	0.008846343	0.00200	T	0.003542	0.08062	T	0.037	0.09474	.	.	0.144782658237	0.14088	0.4314779903202297	0.43064	0.796211368406	0.66052	0.519026637077	0.41489	T	0.010766	0.09688	T	-0.538744	0.00341	T	-0.592197	0.13476	T	0.0301680326296846	0.02016	T	0.656534	0.26618	T	0.042423517	0.06430	0.073265545	0.15901	0.042423517	0.06430	0.073265545	0.15901	-3.404	0.15110	T	.	.	0.094	0.20078	B	.;.	.;.	2.542118	0.32887	19.18	0.77056614838713156	0.11718	0.21009	0.21248	N	AEFDBCI	0.248379	0.36879	N	-0.452705771982135	0.23648	1.271405	-0.265096833274056	0.29256	1.637664	0.797930697821738	0.24134	0.569682	0.32691	0	0.550933	0.16991	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	4.85	3.04	0.34171	2.692000	0.46685	5.133000	0.47665	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.2833:0.0:0.7167:0.0	5.483	0.16026	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	44	chr3	184240010	.	G	A	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.146;DP=343;ExcessHet=0;FS=1.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.03;ReadPosRankSum=0.399;SOR=0.425	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,846	9	0	1	0
chr3	184373566	184373566	T	C	exonic	THPO	.	nonsynonymous SNV	THPO:NM_000460:exon5:c.A245G:p.Q82R,THPO:NM_001177597:exon5:c.A245G:p.Q82R,THPO:NM_001177598:exon5:c.A245G:p.Q82R,THPO:NM_001289997:exon5:c.A245G:p.Q82R,THPO:NM_001290028:exon5:c.A245G:p.Q82R,THPO:NM_001289998:exon6:c.A245G:p.Q82R,THPO:NM_001290003:exon6:c.A665G:p.Q222R,THPO:NM_001290022:exon6:c.A245G:p.Q82R,THPO:NM_001290026:exon6:c.A245G:p.Q82R,THPO:NM_001290027:exon6:c.A245G:p.Q82R	Thrombocythemia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3747135	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0204917984351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038963770	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.0	0.92824	D	0.996	0.68779	D	0.994	0.82059	D	0.011396	0.29550	N	0.159467	0.621535	0.81001	D	2.015	0.55033	M	0.87	0.46412	T	-2.7	0.57599	D	0.304	0.34336	-0.9503	0.40920	T	0.136	0.45145	T	10	0.79611075	0.79085	D	0.020492	0.43095	T	0.230	0.53062	0.853	0.95376	0.727570700033	0.72515	0.4950103823960129	0.49422	0.362069930752	0.37861	0.507831692696	0.39919	T	0.279351	0.65203	T	-0.163696	0.26194	T	-0.376061	0.36182	T	0.753995656967163	0.43509	D	0.741926	0.36121	T	0.5855984	0.71913	0.5287169	0.72770	0.5855984	0.71914	0.5287169	0.72771	-3.319	0.13984	T	0.6183747465141616	0.68652	0.115	0.24566	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.471242	0.48428	22.6	0.99783272448623628	0.86955	0.58846	0.30753	D	AEFDGBCI	0.358444	0.44912	N	0.16101229853096	0.49335	3.135028	0.217168036540244	0.50800	3.268277	0.999999984682268	0.74766	0.623552	0.39893	0	0.563428	0.19063	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	4.92	4.92	0.64147	1.694000	0.37371	5.025000	0.46778	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	10.980	0.46702	881	0.29269	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1588.43	38	chr3	184373566	.	T	C	1588.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.556;DP=503;ExcessHet=0;FS=1.333;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.442;SOR=0.825	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1575	9	0	1	0
chr3	184383641	184383641	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon12:c.C1439T:p.T480M,CHRD:NM_001304474:exon12:c.C329T:p.T110M,CHRD:NM_003741:exon12:c.C1439T:p.T480M,CHRD:NM_001304473:exon13:c.C329T:p.T110M	.	426	1070	25	1	0	27	0.0124596	0.0002	0.432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0009	0.00259585	0.0033	0.0003	0.0014	0	0	0.0015	0.0060	0.0194	0.0028201	436	154602	rs148110430	0.0023	0.0023	0.0018	0.0028	0.0182	0.0022	0.0022	0.0175	0.0172	0.0004	0.0014	0.0084	0	1.887e-05	0.0082	0.0011	0.0034	0.0182	0.0017	0.0017	0.0014	0.0019	0.0168	0.0015	0.0014	0.0138	0.0127	0.0004	0	0.0025	0.0095	0	0	0	0.0011	0.0019	0.0168	0.299	0.14595	T	0.195	0.28032	T	0.005	0.15914	B	0.008	0.16460	B	0.500723	0.11953	N	0.775315	1	0.28427	N	-0.895	0.01383	N	0.91	0.44856	T	0.16	0.05217	N	0.145	0.15046	-1.0543	0.13225	T	0.032	0.13635	T	10	0.005623102	0.00125	T	.	.	.	0.053	0.14996	.	.	0.3349148499	0.33108	0.267500168626317	0.26663	0.329577118065	0.35066	0.27541744709	0.06861	T	0.154211	0.49540	T	-0.670204	0.00055	T	-0.721198	0.04738	T	0.00852393164526867	0.00104	T	0.548145	0.18826	T	0.017565088	0.00283	0.05225572	0.08571	0.017565088	0.00283	0.05225572	0.08571	-7.487	0.57519	T	.	.	0.059	0.00904	B	.;.	.;.	-1.893159	0.00128	0.002	0.66460612514951911	0.08065	0.00100	0.00648	N	AEFDGBI	0.117417	0.23003	N	-2.28030372182783	0.00050	0.002165339	-2.35579059314567	0.00050	0.002186274	0.999999987198871	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.27	-8.54	0.00794	-2.386000	0.01139	-6.623000	0.01348	-1.848000	0.00574	0.010000	0.18352	0.000000	0.08366	0.015000	0.10482	0.0:0.5354:0.1039:0.3607	11.140	0.47622	901	0.24189	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005629	0.000000	0.001366	0.002959	0.000000	0.000000	0.015625	0.015625	0.05	1567.43	42	chr3	184383641	.	C	T	1567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=549;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.31;SOR=0.772	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1382	9	0	1	0
chr3	184386125	184386125	C	T	exonic	CHRD	.	nonsynonymous SNV	CHRD:NM_001304472:exon15:c.C1898T:p.T633I,CHRD:NM_001304474:exon15:c.C788T:p.T263I,CHRD:NM_003741:exon15:c.C1898T:p.T633I,CHRD:NM_001304473:exon16:c.C788T:p.T263I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.1513289201	0.0002	0.000199681	0.0005	0	0	0	0	0.0007	0	0.0007	0.0004334	67	154602	rs201020244	0.0003	0.0003	0.0003	0.0004	0.0036	0.0003	0.0003	0.0024	0.0021	0.0001	4.472e-05	0.0075	0	0	0.0036	0.0002	0.0008	0.0007	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0001	0.0001	2.406e-05	0	0.0003	0.0063	0	0	0	0.0002	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.1	0.87590	M	0.04	0.62051	T	-4.13	0.76740	D	0.85	0.86511	0.131	0.84720	D	0.489	0.80589	T	10	0.07158142	0.10570	T	0.151329	0.83290	D	0.535	0.80486	.	.	0.935453229892	0.93478	0.8369518883847742	0.83655	1.06764733379	0.76684	0.660112440586	0.61425	T	0.613023	0.87763	D	0.0339593	0.56250	T	0.186849	0.82388	D	0.157587248460174	0.17691	T	0.838216	0.51127	T	0.737283	0.80137	0.68820965	0.81660	0.737283	0.80138	0.68820965	0.81661	-10.12	0.76761	D	.	.	0.701	0.81422	P	.;.;.	.;.;.	4.606399	0.73013	25.9	0.99897675180875001	0.97048	0.98354	0.81929	D	AEFDBI	0.931770	0.92110	D	0.739730401711752	0.82237	7.712799	0.634819933129521	0.77486	6.688363	0.999999894441143	0.74766	0.62174	0.39705	0	0.59043	0.45803	0	0.491614	0.08109	1	0.620976	0.48614	0	.	.	4.68	4.68	0.58319	5.394000	0.66031	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	16.576	0.84499	906	0.23090	CHRD|CHRD|CHRD;CHRD|CHRD|CHRD;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.007576	0.05	857.43	35	chr3	184386125	.	C	T	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.769;DP=407;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.255;SOR=0.717	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	9	0	1	0
chr3	184711345	184711345	-	TCCTCCTCC	exonic	MAGEF1	.	nonframeshift insertion	MAGEF1:NM_022149:exon1:c.476_477insGGAGGAGGA:p.E158_D159insEEE	.	415	229	448	423	7	1301	0.738584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.955e-05	0	0	0	0	1.551e-05	0	0.0004	4.53e-05	7	154602	rs34995413	4.093e-05	4.173e-05	3.233e-05	4.96e-05	0.0003	3.211e-05	2.936e-05	0.0002	0.0002	3.03e-05	0	0	0	0	0	2.513e-05	1.696e-05	0.0003	3.323e-05	3.287e-05	0	6.811e-05	0.0004	1.272e-05	8.06e-06	7.409e-05	3.073e-05	0	0	0	0	0	0	0	4.445e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30544.6	104	chr3	184711345	.	A	ATCCTCCTCC	30544.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=1122;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=34.05;ReadPosRankSum=0.132;SOR=0.68	GT:AD:DP:GQ:PL	0/0:58,0:110:99:1994,2169,4555	9	0	1	0
chr3	185192591	185192591	A	G	exonic	EHHADH	.	nonsynonymous SNV	EHHADH:NM_001166415:exon7:c.T1519C:p.Y507H,EHHADH:NM_001966:exon7:c.T1807C:p.Y603H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.316	0.0252394590166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.11298	T	0.516	0.12632	T	0.653	0.40782	P	0.308	0.41327	B	0.002623	0.36208	N	0.310649	1	0.81001	D	2.985	0.85602	M	-0.54	0.75438	T	-1.99	0.45949	N	0.556	0.66358	-0.6686	0.61892	T	0.276	0.64814	T	10	0.5674024	0.65128	D	0.025239	0.48216	D	0.316	0.63799	0.561	0.68093	0.346085882481	0.34212	0.830890209518853	0.83048	0.269182839998	0.29436	0.569500803947	0.48607	T	0.172008	0.52034	T	0.0896907	0.63154	D	-0.108942	0.62696	T	0.86494243144989	0.51508	D	0.79582	0.43907	T	0.17756888	0.38730	0.11967839	0.28885	0.17756888	0.38730	0.11967839	0.28884	-4.808	0.36829	T	0.3851453445566299	0.47905	0.379	0.61352	A	.;.	.;.	3.529860	0.49522	22.8	0.99097028424753497	0.52371	0.99214	0.92914	D	AEFDBI	0.963285	0.98513	D	0.224769576947724	0.52402	3.414574	0.337658555497852	0.57766	3.943781	0.999999426297087	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.91	5.91	0.95240	8.890000	0.92121	10.967000	0.84504	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	16.348	0.83004	666	0.61362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2481.43	119	chr3	185192591	.	A	G	2481.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.24;SOR=0.662	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1159	9	0	1	0
chr3	185254016	185254016	C	A	exonic	EHHADH	.	stopgain	EHHADH:NM_001966:exon1:c.G7T:p.E3X	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002088	0.37271	N	0.303092	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.529	0.56662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.567668	0.96476	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.246944	0.97341	37	0.99533333375611421	0.70025	0.80449	0.40084	D	ALL	0.218205	0.34323	N	0.779319782442578	0.84795	8.388935	0.622112593625657	0.76549	6.511524	1.0	0.98316	0.685219	0.55550	0	0.484254	0.07192	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	4.85	4.85	0.62375	1.316000	0.33226	1.695000	0.28095	0.599000	0.40250	0.863000	0.30666	0.910000	0.28117	0.952000	0.50033	0.0:1.0:0.0:0.0	13.658	0.61824	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1055.43	35	chr3	185254016	.	C	A	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.671;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.237;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,919	9	0	1	0
chr3	185473330	185473330	G	A	exonic	MAP3K13	.	nonsynonymous SNV	MAP3K13:NM_001242317:exon10:c.G1378A:p.A460T,MAP3K13:NM_004721:exon11:c.G1999A:p.A667T,MAP3K13:NM_001242314:exon12:c.G1999A:p.A667T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0103814971554	.	0.000199681	8.238e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs564401067	3.42e-06	3.42e-06	5.445e-06	1.375e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.568e-06	6.563e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.023	0.48642	D	0.232	0.30828	T	0.994	0.66517	D	0.723	0.54990	P	0.000118	0.50451	D	0.132994	1	0.81001	D	2.505	0.72935	M	2.52	0.14160	T	-1.0	0.29933	N	0.336	0.43610	-1.1065	0.03388	T	0.042	0.17869	T	10	0.25680017	0.43089	T	0.010381	0.26850	T	0.230	0.53062	0.456	0.52102	0.439749870471	0.43592	0.5981172159055558	0.59742	0.236333348273	0.26171	0.582455396652	0.50431	T	0.034621	0.23393	T	-0.0780641	0.40029	T	-0.253056	0.49516	T	0.66992449760437	0.39334	D	0.744226	0.36553	T	0.07174946	0.15907	0.13698144	0.32754	0.07174946	0.15907	0.13698144	0.32753	-3.472	0.16195	T	.	.	0.639	0.70483	P	.;.;.;.	.;.;.;.	3.291544	0.45147	22.1	0.99803525434769669	0.88817	0.93791	0.59201	D	AEFGBCI	0.680770	0.64435	D	0.0894741811099624	0.45974	2.845002	0.121520214530351	0.45650	2.824554	0.999999995210059	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.47	4.59	0.56297	6.705000	0.74467	3.039000	0.36073	-0.681000	0.04224	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.0:0.1329:0.867:0.0	16.264	0.82389	739	0.53257	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3122.43	33	chr3	185473330	.	G	A	3122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.541;DP=510;ExcessHet=0;FS=0.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=1.79;SOR=0.624	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1369	9	0	1	0
chr3	185491625	185491625	C	T	exonic	TMEM41A	.	nonsynonymous SNV	TMEM41A:NM_080652:exon5:c.G707A:p.G236E	.	432	1052	37	1	0	39	0.0181988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	.	0.0069	0.00379393	0.0082	0.0022	0.0056	0.0001	0.0077	0.0114	0.0066	0.0055	0.0081823	1265	154602	rs139252054	0.0095	0.0095	0.0095	0.0094	0.0170	0.0093	0.0093	0.0143	0.0133	0.0016	0.0072	0.0037	7.557e-05	0.0057	0.0170	0.0107	0.0091	0.0059	0.0072	0.0072	0.0079	0.0065	0.0111	0.0069	0.0067	0.0104	0.0102	0.0022	0	0.0071	0.0023	0.0002	0.0067	0.0340	0.0111	0.0161	0.0048	0.002	0.72154	D	0.004	0.74150	D	0.984	0.60733	D	0.901	0.63994	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.885	0.83555	M	.	.	.	-5.56	0.86296	D	0.706	0.70966	-0.5044	0.68490	T	0.326	0.69479	T	9	0.010818124	0.00239	T	.	.	.	0.657	0.87135	.	.	0.213573922156	0.20996	0.8932037824184267	0.89290	0.791747000149	0.65820	0.610706984997	0.54416	T	0.213096	0.57432	T	0.121708	0.66543	D	0.412437	0.92509	D	0.0361814832827991	0.03013	T	0.936406	0.76145	D	0.8896424	0.90477	0.90151453	0.95084	0.8896424	0.90478	0.90151453	0.95084	-14.974	0.95791	D	.	.	0.955	0.87405	P	.	.	4.723609	0.76007	26.4	0.99766917449297388	0.85583	0.98004	0.78799	D	AEFBCI	0.889250	0.82314	D	0.695656378278875	0.79348	7.058689	0.722991854365043	0.84124	8.205515	1.0	0.98316	0.732398	0.92422	0	0.723133	0.82719	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.08	6.08	0.98982	5.994000	0.70296	4.874000	0.45597	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.665	0.99682	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.025253	0.019022	0.014620	0.000000	0.000000	0.009146	0.011364	0.05	782.43	35	chr3	185491625	.	C	T	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-1.587;SOR=0.764	GT:AD:DP:GQ:PL	0/1:67,35:102:99:794,0,1740	9	0	1	0
chr3	186564152	186564152	T	A	exonic	TBCCD1	.	nonsynonymous SNV	TBCCD1:NM_001134415:exon2:c.A178T:p.I60F,TBCCD1:NM_018138:exon2:c.A178T:p.I60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.164145886734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.92824	D	0.997	0.70673	D	0.944	0.68059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.65	0.77586	M	-0.84	0.74265	T	-2.4	0.70314	N	0.909	0.91047	0.150	0.85059	D	0.540	0.83056	D	10	0.6040953	0.67076	D	0.164146	0.84332	D	0.578	0.82968	0.511	0.60846	0.775400501834	0.77333	0.7466056534558287	0.74606	0.713192987955	0.61806	0.631625235081	0.57376	T	0.283072	0.65583	T	0.150616	0.69326	D	-0.0214273	0.68935	D	0.935144603252411	0.60314	D	0.906409	0.67021	D	0.42050147	0.62125	0.48524758	0.70205	0.42050147	0.62126	0.48524758	0.70205	-3.613	0.18045	T	.	.	0.394	0.74760	A	.;.;.;.	.;.;.;.	4.273020	0.65030	24.8	0.98915821851861052	0.48454	0.99057	0.90596	D	AEFGBI	0.716190	0.66810	D	0.722665942790203	0.81118	7.448024	0.71303107920468	0.83367	8.003413	0.999999999994703	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.75	5.75	0.90390	5.780000	0.68607	6.121000	0.53786	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	13.998	0.63929	850	0.35610	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1372.43	33	chr3	186564152	.	T	A	1372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=420;ExcessHet=0;FS=7.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.833;SOR=1.193	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	9	0	1	0
chr3	186620845	186620845	G	A	exonic	AHSG	.	nonsynonymous SNV	AHSG:NM_001354573:exon6:c.G935A:p.R312H,AHSG:NM_001354571:exon7:c.G1022A:p.R341H,AHSG:NM_001354572:exon7:c.G1016A:p.R339H,AHSG:NM_001622:exon7:c.G1019A:p.R340H	.	.	.	.	.	.	.	.	.	.	.	697971	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0047	0.00339457	0.0014	0.0151	0.0007	0.0001	0	0.0001	0.0022	0	0.0012936	200	154602	rs77385737	0.0005	0.0005	0.0006	0.0005	0.0156	0.0005	0.0005	0.0145	0.0140	0.0156	0.0010	0.0001	0.0001	0	0.0014	7.554e-05	0.0012	8.115e-05	0.0044	0.0044	0.0044	0.0044	0.0148	0.0041	0.0040	0.0138	0.0134	0.0148	0.0099	0.0016	0	0.0004	0	0	8.819e-05	0.0047	0	0.135	0.26192	T	0.155	0.31936	T	0.002	0.09854	B	0.0	0.01387	B	0.944617	0.08330	N	0.972799	1	0.08975	N	0.92	0.23413	L	3.47	0.05188	T	0.58	0.02598	N	0.102	0.09207	-0.9661	0.37994	T	0.013	0.04890	T	10	0.0033490956	0.00058	T	.	.	.	0.016	0.02506	.	.	0.267299060538	0.26338	0.23434987345658723	0.23349	0.101798439067	0.11520	0.312247246504	0.12246	T	0.10897	0.42246	T	-0.744065	0.00019	T	-0.829251	0.01275	T	0.00101822422654718	0.00010	T	0.611639	0.23235	T	0.026932435	0.01815	0.031359978	0.01713	0.026887491	0.01805	0.031684197	0.01792	-3.958	0.23173	T	.	.	0.086	0.11510	B	.;.	.;.	0.096756	0.04991	1.550	0.91930871851643159	0.21255	0.07333	0.13354	N	AEFDBHCI	0.535869	0.55431	D	-1.05875432843384	0.07416	0.3444794	-1.09610216746966	0.07776	0.3796112	0.999994197236428	0.74766	0.594549	0.33734	0	0.563428	0.19063	0	0.597571	0.31856	0	0.542086	0.14980	0	.	.	4.63	1.7	0.23359	-0.296000	0.08323	-2.143000	0.04149	-0.849000	0.02733	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3211:0.508:0.1709:0.0	7.414	0.26205	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.015152	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1544.43	45	chr3	186620845	.	G	A	1544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.254;DP=474;ExcessHet=0;FS=1.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.594;SOR=0.961	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr3	186722491	186722491	G	A	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_000893:exon3:c.G361A:p.V121M,KNG1:NM_001102416:exon3:c.G361A:p.V121M,KNG1:NM_001166451:exon3:c.G361A:p.V121M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0112729784093	.	0.000199681	6.787e-05	0	0	0	0	1.545e-05	0	0.0004	5.82e-05	9	154602	rs578110004	3.079e-05	3.078e-05	2.042e-05	4.126e-05	0.0004	2.347e-05	2.095e-05	0.0003	0.0002	0	0	3.826e-05	0	1.873e-05	0	3.597e-06	9.935e-05	0.0004	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.013	0.55530	D	0.016	0.74150	D	0.998	0.73220	D	0.968	0.71741	D	0.109073	0.19500	N	0.445967	1	0.08975	N	2.765	0.80766	M	2.47	0.14783	T	-1.67	0.42191	N	0.412	0.47208	-1.0689	0.09657	T	0.099	0.37009	T	10	0.104370594	0.19239	T	0.011273	0.28723	T	0.088	0.25558	0.367	0.37524	0.331619326243	0.32766	0.25140046600629784	0.25054	0.36538535664	0.38135	0.438575178385	0.30382	T	0.490692	0.81538	T	-0.366603	0.03769	T	-0.434375	0.29441	T	0.291690072232837	0.24660	T	0.937906	0.76702	D	0.057939854	0.11595	0.09553401	0.22662	0.057939854	0.11595	0.09553401	0.22661	-7.61	0.58381	D	.	.	0.209	0.47848	B	.;.;.;.;.	.;.;.;.;.	2.830602	0.37313	20.5	0.99764380220265925	0.85335	0.17293	0.19774	N	AEFDGBHCI	0.660581	0.63110	D	-0.0363140040362424	0.40216	2.384542	-0.253276911512204	0.29658	1.663427	0.999999998028611	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	4.67	3.77	0.42499	0.550000	0.23052	0.698000	0.20823	0.676000	0.76740	0.048000	0.21332	0.144000	0.23118	0.071000	0.16709	0.1001:0.0:0.8999:0.0	9.860	0.40276	940	0.13648	.;Kininogen-type cystatin domain|Cystatin domain|Cystatin domain;.;.;Kininogen-type cystatin domain|Cystatin domain|Cystatin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	460.43	40	chr3	186722491	.	G	A	460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.694;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.378;SOR=0.782	GT:AD:DP:GQ:PL	0/1:27,24:51:99:472,0,531	9	0	1	0
chr3	187368571	187368571	C	A	exonic	RTP4	.	nonsynonymous SNV	RTP4:NM_022147:exon1:c.C130A:p.Q44K	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0128979557018	0.0006	0.000399361	0.0005	0	8.787e-05	0	0	0.0009	0.0011	0.0001	0.0004334	67	154602	rs138235427	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0001	0.0004	0.0050	0	0	0.0009	0.0003	0.0005	8.126e-05	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	4.812e-05	0	0.0006	0.0023	0	0	0	0.0004	0.0005	0	0.075	0.34444	T	0.0	0.92824	D	0.987	0.61912	D	0.845	0.60432	P	0.002334	0.36766	N	0.262581	0.825461	0.28828	N	3.085	0.87354	M	2.06	0.20523	T	-3.87	0.72594	D	0.297	0.33578	-1.0300	0.20454	T	0.090	0.34436	T	10	0.014566958	0.00306	T	0.012898	0.31871	T	0.228	0.52768	.	.	0.388010793773	0.38412	0.29106658121647977	0.29019	0.645257866395	0.57986	0.320634663105	0.13517	T	0.137353	0.47024	T	-0.272573	0.11471	T	-0.28437	0.46355	T	0.120523873199111	0.14481	T	0.782022	0.41734	T	0.59242016	0.72282	0.45033127	0.68012	0.59242016	0.72283	0.45033127	0.68012	-8.021	0.61213	D	.	.	0.224	0.45544	B	.	.	3.079473	0.41422	21.4	0.99324554903947659	0.59507	0.73298	0.35856	D	AEFDGBHCI	0.140102	0.26191	N	0.398690310864591	0.61352	4.335029	0.319637662467665	0.56694	3.833202	0.999999969020082	0.74766	0.487112	0.14033	0	0.52208	0.09955	0	0.573888	0.23631	0	0.618803	0.45993	0	.	.	4.07	3.2	0.35826	1.361000	0.33740	2.360000	0.32366	0.599000	0.40250	0.948000	0.32982	0.941000	0.28781	0.586000	0.31041	0.0:0.8871:0.0:0.1129	7.680	0.27674	831	0.39019	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	792.43	33	chr3	187368571	.	C	A	792.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.718;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-1.07;SOR=0.608	GT:AD:DP:GQ:PL	0/1:45,36:81:99:804,0,1097	9	0	1	0
chr3	188609657	188609657	G	A	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001375465:exon5:c.G926A:p.G309D,LPP:NM_001375455:exon6:c.G926A:p.G309D,LPP:NM_001375456:exon6:c.G926A:p.G309D,LPP:NM_001375458:exon6:c.G926A:p.G309D,LPP:NM_001375459:exon6:c.G926A:p.G309D,LPP:NM_001375461:exon6:c.G926A:p.G309D,LPP:NM_001375463:exon6:c.G926A:p.G309D,LPP:NM_005578:exon6:c.G926A:p.G309D,LPP:NM_001167671:exon7:c.G926A:p.G309D,LPP:NM_001375457:exon7:c.G926A:p.G309D,LPP:NM_001375460:exon7:c.G926A:p.G309D,LPP:NM_001375462:exon7:c.G926A:p.G309D,LPP:NM_001375464:exon7:c.G926A:p.G309D	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	2	1501	18	1	0	20	0.00661813	.	.	.	4013934	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.199	0.0367342503907	0.0015	0.00359425	0.0016	0.0002	0.0013	0	0.0011	0.0021	0.0011	0.0019	0.00174	269	154602	rs146859876	0.0017	0.0017	0.0016	0.0018	0.0128	0.0017	0.0016	0.0105	0.0096	0.0004	0.0013	7.652e-05	5.038e-05	0.0012	0.0128	0.0017	0.0017	0.0030	0.0017	0.0017	0.0018	0.0016	0.0056	0.0015	0.0014	0.0040	0.0034	0.0002	0	0.0029	0	0	0.0007	0.0136	0.0023	0.0028	0.0056	0.0	0.91255	D	0.235	0.59159	T	1.0	0.90584	D	1.0	0.97372	D	0.005648	0.32621	N	0.343130	0.999961	0.54805	D	2.125	0.59049	M	1.34	0.44461	T	-3.73	0.70920	D	0.654	0.66443	-0.5845	0.65439	T	0.267	0.63823	T	10	0.0089096725	0.00202	T	0.036734	0.57180	D	0.199	0.48268	.	.	0.336933722576	0.33308	0.5263558457889815	0.52559	.	.	0.482655346394	0.36423	T	0.123994	0.46496	T	-0.277763	0.10906	T	-0.176379	0.56858	T	0.0506788122094624	0.05619	T	0.813919	0.46746	T	0.12770984	0.29877	0.22660209	0.47643	0.16229701	0.36296	0.25691986	0.51399	-5.619	0.42965	T	.	.	0.412	0.60259	A	.;.;.;.;.	.;.;.;.;.	3.625113	0.51325	23.1	0.99848330620631875	0.92750	0.99145	0.91890	D	AEFBI	0.705509	0.66087	D	0.537573026915671	0.69327	5.341443	0.527227981335329	0.69829	5.416461	0.999999998551546	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.71	4.83	0.61880	5.905000	0.69631	3.773000	0.39761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.8481:0.1519	14.917	0.70452	798	0.45050	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.010101	0.009511	0.020468	0.000000	0.000000	0.003049	0.011364	0.05	1816.43	43	chr3	188609657	.	G	A	1816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.982;DP=559;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=2.51;SOR=0.955	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1168	9	0	1	0
chr3	189215379	189215379	A	G	exonic	TPRG1	.	nonsynonymous SNV	TPRG1:NM_198485:exon3:c.A298G:p.T100A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00396224251525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.91255	T	0.395	0.92824	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.048698	0.90733	0.36321	D	1.635	0.41844	L	.	.	.	-2.67	0.76576	D	0.8	0.79599	-0.5493	0.66813	T	0.284	0.65616	T	9	0.31681705	0.53413	T	0.003962	0.09368	T	0.119	0.33137	0.248	0.18447	0.209622950755	0.20551	0.5584681905491429	0.55773	0.212166500798	0.23708	0.516721010208	0.41165	T	0.217898	0.58046	T	0.192747	0.73216	D	0.0390913	0.72868	D	0.986347794532776	0.77086	D	0.688231	0.39806	T	0.25867826	0.48918	0.26524368	0.52354	0.25867826	0.48918	0.26524368	0.52353	-9.237	0.69210	D	.	.	0.156	0.34427	B	.;.;.;.	.;.;.;.	2.764534	0.36273	20.2	0.98255447541959562	0.39612	0.83468	0.42583	D	AEFI	0.527592	0.54947	D	0.513219233406538	0.67871	5.139807	0.514433751200114	0.68961	5.292766	0.0324964747706146	0.14057	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	3.071000	0.49740	11.183000	0.88385	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.875	0.51822	967	0.07127	hSac2 domain;hSac2 domain;hSac2 domain;hSac2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	793.43	34	chr3	189215379	.	A	G	793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.516;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=2.21;SOR=0.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1064	9	0	1	0
chr3	190408391	190408391	A	G	exonic	CLDN16	.	nonsynonymous SNV	CLDN16:NM_006580:exon4:c.A460G:p.I154V,CLDN16:NM_001378493:exon7:c.A460G:p.I154V,CLDN16:NM_001378492:exon8:c.A460G:p.I154V	Hypomagnesemia 3, renal, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	1982355	Primary_hypomagnesemia|not_provided	MONDO:MONDO:0009550,MedGen:C0268448,OMIM:248250,Orphanet:31043|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0226285287078	.	.	3.295e-05	0	0	0	0	0	0.0022	0.0001	2.59e-05	4	154602	rs769190460	8.209e-06	8.209e-06	0	1.65e-05	9.275e-05	4.38e-06	3.46e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	8.993e-07	4.967e-05	9.275e-05	6.574e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.256	0.16793	T	0.674	0.06225	T	0.022	0.18677	B	0.012	0.16012	B	0.118861	0.19098	N	0.558774	1	0.81001	D	0	0.06538	N	-2.44	0.88767	D	-0.14	0.09135	N	0.188	0.20528	-0.6763	0.61543	T	0.389	0.74394	T	10	0.16513434	0.30874	T	0.022629	0.45536	T	0.188	0.46444	0.572	0.69564	0.80499038676	0.80316	0.15152466145770863	0.15074	0.0907328880104	0.10238	0.394098341465	0.24246	T	0.319604	0.69087	T	-0.16631	0.25795	T	-0.274015	0.47414	T	0.0256204936894849	0.01355	T	0.611839	0.23263	T	0.036682893	0.04560	0.052441884	0.08640	0.036682893	0.04559	0.052441884	0.08639	-3.13	0.11644	T	.	.	0.094	0.14614	B	.	.	0.347974	0.07210	3.805	0.80926905075932443	0.13435	0.50382	0.28650	D	AEFI	0.079843	0.16134	N	-0.670824939541781	0.16855	0.8624793	-0.491905790235894	0.22376	1.215033	1.42099185885195E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	0.812	0.17886	1.383000	0.33992	2.267000	0.31803	-0.534000	0.04951	1.000000	0.71638	0.999000	0.35428	0.714000	0.34579	0.5618:0.0:0.4382:0.0	9.762	0.39702	811	0.42639	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1055.43	34	chr3	190408391	.	A	G	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.01;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.959;SOR=0.685	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1350	9	0	1	0
chr3	192798532	192798532	C	T	exonic	MB21D2	.	nonsynonymous SNV	MB21D2:NM_178496:exon2:c.G1330A:p.G444R	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00791480007386	0.0002	0.000798722	0.0003	0	0	0	0	0.0002	0	0.0016	0.0002652	41	154602	rs61729336	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0016	0.0015	0	2.236e-05	0	0	0	0.0023	9.712e-05	0.0002	0.0018	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	8.714e-05	0.0014	0.0011	2.406e-05	0	0.0001	0	0	0	0	0.0001	0	0.0025	0.179	0.22053	T	0.256	0.23298	T	0.005	0.12996	B	0.0	0.01387	B	0.017586	0.27685	N	0.400204	0.999489	0.47237	D	0.345	0.11182	N	0.94	0.43672	T	-0.59	0.17624	N	0.309	0.34874	-1.0910	0.05367	T	0.076	0.30397	T	10	0.006444514	0.00146	T	0.007915	0.20981	T	0.055	0.15663	0.095	0.01241	0.333154297509	0.32921	0.4449389148584587	0.44411	0.563634758942	0.52789	0.601574242115	0.53126	T	0.012149	0.10726	T	-0.48401	0.00701	T	-0.498102	0.22544	T	0.024443353918944	0.01201	T	0.862614	0.55818	D	0.0773667	0.17556	0.06930461	0.14584	0.0773667	0.17555	0.06930461	0.14584	-3.77	0.20357	T	.	.	0.251	0.48603	B	.	.	3.790537	0.54561	23.5	0.97768950169164803	0.35857	0.97780	0.77079	D	AEFBI	0.532114	0.55211	D	-0.106221902737857	0.37120	2.15519	0.0999211790295869	0.44544	2.734204	0.967556698238284	0.28986	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.756605	0.99741	0	.	.	5.27	5.27	0.73797	3.871000	0.55791	7.717000	0.67122	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.658000	0.32913	0.0:1.0:0.0:0.0	17.908	0.88842	933	0.16026	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1688.43	33	chr3	192798532	.	C	T	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.875;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	9	0	1	0
chr3	193364229	193364229	C	T	exonic	ATP13A5	.	nonsynonymous SNV	ATP13A5:NM_198505:exon2:c.G115A:p.A39T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00714901315296	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs776380026	4.105e-06	4.104e-06	1.361e-06	6.876e-06	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	0	2.236e-05	0	0	0	0.0003	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.092	0.39954	T	0.001	0.07471	B	0.002	0.06944	B	0.607728	0.05683	N	1.220760	1	0.08975	N	0	0.06538	N	1.95	0.22474	T	-1.16	0.33798	N	0.149	0.15187	-0.9797	0.35071	T	0.020	0.08546	T	10	0.06341043	0.08256	T	0.007149	0.18951	T	0.066	0.19193	0.425	0.47021	0.0482279557977	0.04254	0.26862020817232124	0.26775	0.077068649369	0.08657	0.263166338205	0.05273	T	0.00631	0.05746	T	-0.337038	0.05596	T	-0.639043	0.09738	T	0.027309781983034	0.01589	T	0.557944	0.19432	T	0.061912466	0.12875	0.064871915	0.13067	0.061912466	0.12874	0.064871915	0.13067	-5.877	0.45238	T	.	.	0.082	0.15788	B	.;.	.;.	0.851676	0.12237	8.782	0.97903978500413913	0.36766	0.02246	0.06510	N	AEFI	0.045504	0.07449	N	-1.20009871668145	0.04999	0.2269029	-1.17290002337898	0.06365	0.3061844	1.17791232013356E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	-0.418	0.11728	0.209000	0.17231	-0.461000	0.09038	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.483:0.1328:0.3842	5.535	0.16296	469	0.78175	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	721.43	33	chr3	193364229	.	C	T	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.951;SOR=0.804	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1481	9	0	1	0
chr3	193643030	193643030	G	A	exonic	OPA1	.	nonsynonymous SNV	OPA1:NM_130831:exon10:c.G1013A:p.G338D,OPA1:NM_015560:exon11:c.G1121A:p.G374D,OPA1:NM_130832:exon11:c.G1067A:p.G356D,OPA1:NM_130833:exon11:c.G1124A:p.G375D,OPA1:NM_001354663:exon12:c.G752A:p.G251D,OPA1:NM_001354664:exon12:c.G749A:p.G250D,OPA1:NM_130834:exon12:c.G1175A:p.G392D,OPA1:NM_130835:exon12:c.G1178A:p.G393D,OPA1:NM_130836:exon12:c.G1232A:p.G411D,OPA1:NM_130837:exon13:c.G1286A:p.G429D	Behr syndrome, Autosomal recessive;Optic atrophy 1, Autosomal dominant;Optic atrophy plus syndrome, Autosomal dominant	43	1476	3	0	0	3	0.00101523	.	.	.	888567	not_specified|Inborn_genetic_diseases|not_provided|Autosomal_dominant_optic_atrophy_classic_form	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008134,MedGen:C0338508,OMIM:165500,Orphanet:98673	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.895	0.629151544098	7.7e-05	.	4.203e-05	0	8.74e-05	0	0	3.064e-05	0	0.0001	3.23e-05	5	154602	rs146003075	3.011e-05	3.01e-05	2.179e-05	3.852e-05	0.0005	2.283e-05	2.033e-05	0.0001	7.544e-05	0	0.0001	3.827e-05	0	0	0.0005	1.17e-05	0.0002	0.0001	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.005	0.65419	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-3.86	0.95891	D	-6.35	0.90976	D	0.768	0.91852	1.066	0.98481	D	0.932	0.97747	D	10	0.9226336	0.91615	D	0.629152	0.96810	D	0.895	0.97022	.	.	0.84301341986	0.84151	0.7696190488440139	0.76910	1.6492091948	0.89517	0.898623526096	0.96286	D	0.706701	0.98989	D	0.206018	0.74456	D	0.294823	0.87954	D	0.719375789165497	0.41667	D	0.967253	0.89126	D	0.74595124	0.80634	0.82695144	0.89986	0.74595124	0.80635	0.82695144	0.89987	-11.024	0.82884	D	0.4165608229464354	0.50598	0.214	0.53679	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.415712	0.90628	31	0.99837555852513593	0.91886	0.99357	0.94965	D	AEFBI	0.930203	0.91714	D	0.953256455108821	0.94113	12.512	0.912170017999131	0.96082	14.28175	0.999999999986262	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	9.588000	0.97390	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	16.585	0.84577	958	0.09170	Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain;.;.;Dynamin-type guanine nucleotide-binding (G) domain|Dynamin, GTPase domain|Dynamin, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	288.43	37	chr3	193643030	.	G	A	288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.682;DP=302;ExcessHet=0;FS=5.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.394;SOR=0.081	GT:AD:DP:GQ:PL	0/0:33,0:33:75:0,75,1125	9	0	1	0
chr3	194360766	194360766	G	A	exonic	LRRC15	.	nonsynonymous SNV	LRRC15:NM_130830:exon2:c.C278T:p.T93M,LRRC15:NM_001135057:exon3:c.C296T:p.T99M	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0117850863578	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs557586131	1.915e-05	1.915e-05	2.178e-05	1.65e-05	0.0002	1.328e-05	1.144e-05	9.75e-05	6.95e-05	0.0002	0	0	2.519e-05	0	0.0002	1.259e-05	1.656e-05	4.637e-05	3.284e-05	3.283e-05	1.284e-05	5.379e-05	9.646e-05	1.261e-05	7.98e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	1.47e-05	0	0	0.118	0.28148	T	0.136	0.34009	T	0.002	0.09854	B	0.003	0.08700	B	0.737765	0.09801	N	0.885835	1	0.08975	N	0.95	0.23787	L	0.38	0.57575	T	-0.69	0.19720	N	0.055	0.02658	-0.9880	0.33102	T	0.124	0.42862	T	10	0.10286367	0.18878	T	0.011785	0.29743	T	0.017	0.02790	0.36	0.36385	0.768906017452	0.76679	0.23420640681954846	0.23335	.	.	0.287322878838	0.08533	T	0.069656	0.33763	T	-0.398365	0.02373	T	-0.607346	0.12202	T	0.0186094921082258	0.00575	T	0.133787	0.01059	T	0.019070014	0.00432	0.037785195	0.03506	0.019070014	0.00431	0.037785195	0.03506	-4.903	0.37399	T	.	.	0.059	0.01859	B	.;.	.;.	1.356441	0.17649	13.29	0.8867566903935743	0.18165	0.12714	0.17436	N	AEFDGBI	0.027692	0.02306	N	-0.78411433949171	0.13723	0.6781435	-0.735217789351178	0.16087	0.849296	0.385234303880265	0.19996	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.8	2.34	0.28071	0.449000	0.21459	4.621000	0.44076	-0.638000	0.04459	0.158000	0.23769	1.000000	0.68203	0.009000	0.08673	0.4335:0.2782:0.2883:0.0	5.407	0.15628	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1709.43	34	chr3	194360766	.	G	A	1709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.91;DP=701;ExcessHet=0;FS=2.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.023;SOR=0.783	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	9	0	1	0
chr3	194652863	194652863	G	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon8:c.C1039T:p.R347W	.	418	1087	16	1	0	18	0.00821168	.	.	.	708746	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00562252498956	0.0008	0.00179712	0.0018	0	0.0004	0.0053	0.0003	0.0008	0.0022	0.0068	0.0016041	248	154602	rs114485048	0.0013	0.0013	0.0011	0.0016	0.0125	0.0013	0.0012	0.0116	0.0112	0.0003	0.0006	0.0007	0.0125	0.0001	0.0017	0.0007	0.0012	0.0064	0.0009	0.0009	0.0008	0.0009	0.0050	0.0007	0.0007	0.0034	0.0029	0.0001	0	0.0008	0	0.0044	0.0004	0	0.0009	0.0014	0.0050	0.018	0.50676	D	0.035	0.52389	D	0.288	0.32258	B	0.013	0.16460	B	0.191137	0.16843	N	0.629990	1	0.08975	N	0	0.06538	N	2.47	0.14783	T	-1.91	0.44471	N	0.145	0.14622	-1.0241	0.22377	T	0.023	0.09832	T	10	0.004511744	0.00093	T	0.005623	0.14530	T	0.063	0.18251	.	.	0.199424873507	0.19547	0.2702288715631526	0.26935	0.111146524575	0.12538	0.187256425619	0.00180	T	0.011915	0.10560	T	-0.512927	0.00483	T	-0.506114	0.21714	T	0.021339974902978	0.00837	T	0.735426	0.35200	T	0.09848784	0.23231	0.11134898	0.26859	0.09848784	0.23231	0.11134898	0.26858	-6.078	0.46927	T	.	.	0.075	0.05360	B	.	.	2.509451	0.32405	19.03	0.99308237146486011	0.58906	0.71099	0.34868	D	AEFDGBI	0.245212	0.36619	N	-0.45538030160156	0.23558	1.265935	-0.379516748495026	0.25608	1.409328	0.953167897630978	0.28058	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	5.05	0.67566	2.970000	0.48932	2.038000	0.30286	0.618000	0.50648	0.124000	0.23245	0.016000	0.20520	0.019000	0.11356	0.0733:0.0:0.9267:0.0	14.296	0.65869	921	0.19240	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	2264.43	35	chr3	194652863	.	G	A	2264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.682;DP=479;ExcessHet=0;FS=1.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.33;SOR=0.857	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1138	9	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	868.97	2	chr3	195725265	.	C	T	868.97	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.29;DP=65;ExcessHet=0;FS=7.901;MLEAC=7;MLEAF=0.5;MQ=29.22;MQRankSum=0.981;QD=23.49;ReadPosRankSum=0.655;SOR=4.743	GT:AD:DP:GQ:PL	1/1:0,7:7:21:227,21,0	4	2	1	3
chr3	195778848	195778848	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12732G:p.S4244R,MUC4:NM_001322468:exon19:c.C10572G:p.S3524R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.001674397991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.84e-07	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.26852	T	0.083	0.41573	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.34	0.40218	T	-1.4	0.41046	N	0.145	0.14622	-1.0635	0.10902	T	0.045	0.19152	T	8	0.09230414	0.16243	T	0.001674	0.02753	T	0.022	0.04323	.	.	0.0138822411134	0.00435	0.03665769502132762	0.03612	.	.	0.276885211468	0.07062	T	.	.	.	-0.243001	0.14968	T	-0.58683	0.13941	T	0.155504221895699	0.17533	T	0.715328	0.32778	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.56825	A	.;.	.;.	0.623142	0.09915	6.675	0.37993338942710736	0.02536	0.03384	0.08490	N	AEFBI	0.078138	0.15761	N	-0.971185810290453	0.09223	0.4356208	-1.07755433378981	0.08143	0.399099	1.43074782780278E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.85	0.884	0.18317	-0.012000	0.12637	0.749000	0.21222	-0.993000	0.01841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.6596:0.3404	5.245	0.14808	597	0.68309	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5031.43	312	chr3	195778848	.	G	C	5031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.235;DP=2865;ExcessHet=0;FS=0.812;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.35;MQRankSum=-5.545;QD=13.71;ReadPosRankSum=2.03;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:307,0:307:99:.:.:0,120,1800:.	9	0	1	0
chr3	195778917	195778919	GTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12661_12663del:p.H4221del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.343e-07	6.964e-06	0	1.484e-06	9.482e-07	0	0	.	.	0	0	0	0	0	0	9.482e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10722.6	312	chr3	195778916	.	CGTG	C	10722.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=3562;ExcessHet=1.5895;FS=3.651;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=55.65;MQRankSum=2.28;QD=7.86;ReadPosRankSum=12.57;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:307,0:307:99:.:.:0,120,1800:.	9	0	1	0
chr3	195778916	195778920	CGTGA	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10722.6	312	chr3	195778916	.	CGTGA	*	10722.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=3562;ExcessHet=1.5895;FS=3.651;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=55.65;MQRankSum=2.28;QD=7.86;ReadPosRankSum=12.57;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:307,0:307:99:.:.:0,120,1800:.	9	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	6257.75	303	chr3	195778917	.	G	*	6257.75	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.28;DP=4148;ExcessHet=0.1398;FS=2.47;InbreedingCoeff=0.1246;MLEAC=5;MLEAF=0.357;MQ=56.28;MQRankSum=1.44;QD=3.81;ReadPosRankSum=3.97;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:752,0:752:0:.:.:0,0,10743:.	3	0	4	3
chr3	195778921	195778965	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_001322468:exon18:c.10503_10518del:p.I3502Pfs*2320	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464854324	0	3.5e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2269.8	379	chr3	195778920	.	ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	A	2269.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.037;DP=4144;ExcessHet=0.2348;FS=1.512;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.063;MQ=53.7;MQRankSum=3.52;QD=3.37;ReadPosRankSum=12.72;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:720,0:720:99:.:.:0,120,1800:.	7	0	1	2
chr3	195778920	195778965	ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2269.8	379	chr3	195778920	.	ACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	*	2269.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.037;DP=4144;ExcessHet=0.2348;FS=1.512;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.063;MQ=53.7;MQRankSum=3.52;QD=3.37;ReadPosRankSum=12.72;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:720,0:720:99:.:.:0,120,1800:.	7	0	1	2
chr3	195778921	195778965	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	0	exonic	MUC4	.	.	.	.	428	1020	58	0	16	74	0.0276454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7637.75	379	chr3	195778921	.	CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCG	*	7637.75	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.395;DP=4407;ExcessHet=1.5895;FS=2.098;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=55.25;MQRankSum=4.93;QD=4.67;ReadPosRankSum=14.74;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:720,0:720:99:.:.:0,120,1800:.	8	0	2	0
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7302.69	315	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	7302.69	.	AC=3;AF=0.167;AN=18;BaseQRankSum=3.25;DP=4473;ExcessHet=0.0135;FS=0.519;InbreedingCoeff=0.4302;MLEAC=3;MLEAF=0.167;MQ=54.24;MQRankSum=2.17;QD=4.36;ReadPosRankSum=-1.015;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:720,0:720:99:.:.:0,120,1800:.	6	0	3	1
chr3	195779059	195779059	C	0	exonic	MUC4	.	.	.	.	665	654	51	57	95	260	0.112016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1828.17	151	chr3	195779059	.	C	*	1828.17	.	AC=1;AF=0.167;AN=6;DP=3116;ExcessHet=0;FS=0;InbreedingCoeff=0.2783;MLEAC=2;MLEAF=0.333;MQ=50.86;QD=5.79;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:485,0:485:0:.:.:0,0,5337:.	2	0	1	7
chr3	195779073	195779073	C	0	exonic	MUC4	.	.	.	.	620	794	16	3	89	111	0.0136646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	290.53	151	chr3	195779073	.	C	*	290.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=2965;ExcessHet=0;FS=0;InbreedingCoeff=0.4743;MLEAC=1;MLEAF=0.083;MQ=50.51;MQRankSum=1.48;QD=1.04;ReadPosRankSum=-1.295;SOR=0.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:433,0:433:99:.:.:0,120,1800:.	5	0	1	4
chr3	195779074	195779074	A	0	exonic	MUC4	.	.	.	.	622	795	15	1	89	106	0.0105787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	164.53	151	chr3	195779074	.	A	*	164.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=2962;ExcessHet=0;FS=0;InbreedingCoeff=0.4743;MLEAC=1;MLEAF=0.083;MQ=50.58;MQRankSum=1.48;QD=0.59;ReadPosRankSum=-1.293;SOR=0.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:433,0:433:99:.:.:0,120,1800:.	5	0	1	4
chr3	195779088	195779135	GGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12445_12492del:p.I4149_T4164del	.	431	1083	6	0	2	8	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.363e-05	0.0003	4.981e-05	3.727e-05	0.0002	3.409e-05	3.114e-05	6.809e-05	4.363e-05	3.557e-05	0	0.0002	0.0002	4.514e-05	0	3.539e-05	0.0001	2.672e-05	0.0015	0.0080	0.0013	0.0016	0.0032	0.0013	0.0012	0.0018	0.0014	0.0009	0.0027	0.0014	0.0018	0.0032	0.0017	0	0.0016	0.0032	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1094.39	201	chr3	195779087	.	CGGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	C	1094.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.917;DP=3303;ExcessHet=0;FS=31.213;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.73;MQRankSum=-1.207;QD=2.41;ReadPosRankSum=-5.135;SOR=3.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:433,0:433:99:.:.:0,120,1800:.	9	0	1	0
chr3	195779134	195779134	A	0	exonic	MUC4	.	.	.	.	446	1033	5	0	38	43	0.00241429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	75.33	282	chr3	195779134	.	A	*	75.33	.	AC=1;AF=0.1;AN=10;DP=3295;ExcessHet=0.2348;FS=21.545;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.1;MQ=58.6;QD=0.11;SOR=3.102	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:426,0:426:0:.:.:0,0,5889:.	4	0	1	5
chr3	195779219	195779219	-	CG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12360_12361insCG:p.A4121Rfs*139	.	528	937	55	1	1	58	0.0295184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0010	0.0029	0.0020	0.0007	0.0046	0.0123	0.0003	.	.	.	rs756797051	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	9.78e-05	0.0004	0.0004	0.0008	0.0001	0.0003	0.0005	8.985e-05	0	9.586e-05	0.0002	5.572e-05	2.658e-05	5.913e-05	1.733e-05	3.626e-05	1.827e-05	7.06e-06	2.96e-06	.	.	0	0	0	0	0	0.0002	0	1.827e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	55.01	6	chr3	195779219	.	C	CCG	55.01	.	AC=1;AF=0.056;AN=18;DP=2334;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=49.49;MQRankSum=-1.834;QD=9.17;SOR=3.258	GT:AD:DP:GQ:PL	0/0:257,0:257:99:0,120,1800	8	0	1	1
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.226733	0.414474	0.162338	0.192857	0.500000	0.192308	0.260417	0.166667	0.1875	1008.88	21	chr3	195779374	.	C	A	1008.88	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-3.165;DP=1672;ExcessHet=0;FS=0;InbreedingCoeff=0.5404;MLEAC=3;MLEAF=0.188;MQ=58.32;MQRankSum=-12.35;QD=4.35;ReadPosRankSum=4.14;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:257,0:257:99:.:.:0,120,1800:.	6	1	1	2
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.242585	0.405405	0.195035	0.195652	0.416667	0.220000	0.294118	0.169014	0.1875	991.7	23	chr3	195779396	.	C	T	991.7	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-2.859;DP=1661;ExcessHet=0.9691;FS=0.824;InbreedingCoeff=0.0254;MLEAC=3;MLEAF=0.188;MQ=58.18;MQRankSum=-12.3;QD=2.24;ReadPosRankSum=2.41;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:257,0:257:99:.:.:0,120,1800:.	5	0	3	2
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1046.67	23	chr3	195779400	.	A	*	1046.67	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.862;DP=2049;ExcessHet=3.8694;FS=1.938;InbreedingCoeff=-0.243;MLEAC=2;MLEAF=0.125;MQ=58.12;MQRankSum=-12.37;QD=0.87;ReadPosRankSum=2.36;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:257,0:257:99:.:.:0,120,1800:.	6	0	2	2
chr3	195779771	195779771	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11809T:p.L3937F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0023302689329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.271e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32769	T	0.094	0.39799	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.18	0.52642	T	-0.53	0.16393	N	0.03	0.01658	-1.0680	0.09858	T	0.062	0.25887	T	7	0.09802696	0.17696	T	0.00233	0.04507	T	0.035	0.08770	0.197	0.10975	0.0138822411134	0.00435	8.164020071227647E-4	0.00075	.	.	0.526694536209	0.42569	T	.	.	.	-0.331637	0.05988	T	-0.71415	0.05084	T	0.128126339868062	0.15207	T	0.837516	0.51030	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.39731	B	.;.	.;.	1.404453	0.18190	13.60	0.78373864189996989	0.12273	0.00116	0.00732	N	AEFBI	0.045921	0.07565	N	-0.855900336212729	0.11906	0.5772233	-1.07569448320041	0.08180	0.4010929	1.57801726585785E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.519000	0.06345	-3.256000	0.02930	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	1.0E-4:1.0E-4:0.5407:0.4592	3.312	0.06607	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	69.76	7	chr3	195779771	.	G	A	69.76	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=1818;ExcessHet=0;FS=0;InbreedingCoeff=-0.0439;MLEAC=1;MLEAF=0.05;MQ=34.8;MQRankSum=0.967;QD=23.25;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:257,0:257:99:.:.:0,120,1800:.	9	0	1	0
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	48836.3	20	chr3	195779882	.	G	*	48836.3	.	AC=2;AF=0.143;AN=14;DP=2237;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.214;MQ=59.46;MQRankSum=-0.186;QD=25.77;SOR=0.258	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:282:99:.:.:8453,8594,10021:.	5	0	2	3
chr3	195780015	195780016	CA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.11564_11565del:p.M3855Tfs*6	.	450	1031	0	4	37	45	0.00386473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0.0006	0.0004	0	0	.	.	.	rs780698820	0.0006	0.0087	0.0006	0.0007	0.0017	0.0006	0.0006	0.0014	0.0012	0.0008	0.0017	0.0005	0	0.0012	0	0.0006	0.0006	6.873e-05	6.722e-05	0.0010	7.552e-05	5.863e-05	9.279e-05	3.089e-05	2.191e-05	3.655e-05	2.366e-05	5.418e-05	0	9.069e-05	0	0	0	0	9.279e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	237.39	7	chr3	195780014	.	GCA	G	237.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.068;DP=2333;ExcessHet=0;FS=0;InbreedingCoeff=-0.0445;MLEAC=1;MLEAF=0.05;MQ=38.49;MQRankSum=-0.366;QD=33.91;ReadPosRankSum=-1.465;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:285,0:285:99:.:.:0,120,1800:.	9	0	1	0
chr3	195780016	195780112	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	0	exonic	MUC4	.	.	.	.	474	577	408	37	26	508	0.294621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6987.42	7	chr3	195780016	.	ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG	*	6987.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.31;DP=2746;ExcessHet=0.7463;FS=1.76;InbreedingCoeff=-0.1736;MLEAC=1;MLEAF=0.05;MQ=56.99;MQRankSum=0.806;QD=9.93;ReadPosRankSum=-6.128;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:285,0:285:99:.:.:0,120,1800:.	9	0	1	0
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1324.85	425	chr3	195780215	.	C	*	1324.85	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-4.009;DP=5009;ExcessHet=0.2348;FS=10.418;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.063;MQ=51.98;MQRankSum=-8.627;QD=1.8;ReadPosRankSum=-3.111;SOR=1.425	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:522,0:522:99:.:.:0,120,1800:.	7	0	1	2
chr3	195780260	195780260	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G11320A:p.A3774T,MUC4:NM_001322468:exon15:c.G9880A:p.A3294T	.	416	1103	2	0	1	3	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00373378916317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288568337	0.0003	0.0092	0.0003	0.0003	0.0063	0.0003	0.0003	0.0055	0.0052	0.0063	0.0003	0.0002	0.0002	0.0004	0.0010	0.0002	0.0004	0.0002	0.0013	0.0067	0.0011	0.0015	0.0066	0.0011	0.0011	0.0056	0.0052	0.0066	0	0.0005	0	0.0007	0.0001	0	0.0002	0	0	0.668	0.04588	T	0.533	0.10245	T	.	.	.	.	.	.	0.030158	0.25350	N	0.000000	1	0.24871	N	.	.	.	1.16	0.38073	T	0.52	0.04233	N	0.05	0.02179	-1.0443	0.16030	T	0.031	0.13155	T	8	0.012450129	0.00268	T	0.003734	0.08651	T	0.019	0.03383	0.185	0.09388	0.0138822411134	0.00435	1.1575931569856892E-4	0.00010	.	.	0.526827573776	0.42588	T	.	.	.	-0.37807	0.03204	T	-0.780848	0.02427	T	0.0433768115698231	0.04306	T	0.674733	0.28305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05935	B	.;.	.;.	0.017078	0.04400	1.144	0.20734059553184761	0.00759	0.00208	0.01187	N	AEFBCI	0.035755	0.04655	N	-1.81646071188136	0.00506	0.02178056	-1.95379846012863	0.00382	0.0168736	1.18485708032843E-4	0.05269	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-1.002000	0.03796	-3.909000	0.02458	-1.361000	0.01181	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3341:0.3337:0.3322	2.187	0.03650	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	242.43	485	chr3	195780260	.	C	T	242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.02;DP=5246;ExcessHet=0;FS=11.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.08;MQRankSum=-11.3;QD=0.5;ReadPosRankSum=-5.077;SOR=2.054	GT:AD:DP:GQ:PL	0/0:575,0:575:99:0,120,1800	9	0	1	0
chr3	195780343	195780343	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11237T:p.P3746L,MUC4:NM_001322468:exon15:c.C9797T:p.P3266L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.000638247409133	.	.	.	.	.	.	.	.	.	.	.	.	.	rs748424568	2.027e-05	3.448e-05	2.286e-05	1.761e-05	0.0004	1.406e-05	1.21e-05	0.0002	0.0002	0.0004	5.773e-05	0	0	0	0.0002	7.499e-06	8.734e-05	1.272e-05	4.839e-05	0.0002	5.422e-05	4.232e-05	0.0001	2.208e-05	1.59e-05	5.357e-05	3.497e-05	0.0001	0	0	0	0	0	0	1.5e-05	0.0005	0	0.409	0.12632	T	0.095	0.39645	T	.	.	.	.	.	.	0.027698	0.25717	U	0.000000	1	0.08975	N	.	.	.	1.58	0.29085	T	-1.25	0.31576	N	0.111	0.09772	-1.0244	0.22279	T	0.037	0.16029	T	9	0.072273314	0.10767	T	6.38E-4	0.00334	T	0.005	0.00259	.	.	0.0954503805726	0.09146	4.1039059804104833E-4	0.00037	.	.	0.466677963734	0.34225	T	.	.	.	-0.363435	0.03939	T	-0.759825	0.03118	T	0.113204285502434	0.13752	T	0.750125	0.37153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26917	B	.;.	.;.	2.055494	0.26134	17.01	0.78006270095189634	0.12115	0.00743	0.03099	N	AEFDBCI	0.036686	0.04928	N	-1.18517989916406	0.05224	0.237632	-1.27010662600501	0.04840	0.2292781	1.45609271737472E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.885	0.885	0.18323	0.374000	0.20232	0.122000	0.14930	0.276000	0.18584	0.049000	0.21372	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	7.307	0.25629	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5213.43	417	chr3	195780343	.	G	A	5213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=4210;ExcessHet=0;FS=11.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.55;MQRankSum=-2.374;QD=16.24;ReadPosRankSum=0.058;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:529,0:529:99:.:.:0,120,1800:.	9	0	1	0
chr3	195780359	195780359	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11221G:p.H3741D,MUC4:NM_001322468:exon15:c.C9781G:p.H3261D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.000626011924686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1318392332	0	2.22e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.529e-05	0.0002	3.006e-05	0	7.787e-05	2.54e-06	9.5e-07	1.288e-05	4.82e-06	7.787e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.637	0.07037	T	.	.	.	.	.	.	0.031920	0.25103	N	0.000000	1	0.08975	N	.	.	.	1.51	0.32958	T	0.27	0.07444	N	0.304	0.34336	-1.0076	0.27665	T	0.029	0.12234	T	9	0.12980741	0.24700	T	6.26E-4	0.00303	T	0.016	0.02506	.	.	0.0138822411134	0.00435	4.94242426888132E-4	0.00045	.	.	0.495055109262	0.38139	T	.	.	.	-0.33095	0.06040	T	-0.713163	0.05134	T	0.473602622747421	0.31663	T	0.556944	0.19352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00444	B	.;.	.;.	0.162351	0.05527	1.988	0.9251521108401296	0.21955	0.01567	0.05119	N	AEFDBCI	0.063010	0.12150	N	-0.88375545174828	0.11229	0.5407527	-1.04941218263124	0.08719	0.4300816	1.89859852668308E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.885	0.885	0.18323	0.441000	0.21325	-1.075000	0.06408	-0.786000	0.03287	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	7.307	0.25629	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	5876.43	380	chr3	195780359	.	G	C	5876.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.513;DP=4007;ExcessHet=0;FS=11.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-1.85;QD=17.7;ReadPosRankSum=-0.293;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:504,0:504:99:.:.:0,120,1800:.	9	0	1	0
chr3	195780371	195780371	-	TGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACGGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.9770-1->TCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCCGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA	nonframeshift insertion	MUC4:NM_018406:exon2:c.11208_11209insTCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCACTTCCTCCGTATCTACAGGTCACGTCACCCCTCTTCATGTCACCAGCCCTTCCTCA:p.S3736_A3737insSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.904e-06	1.228e-06	0	3.728e-06	.	0	0	.	.	0	0	0	0	0	0	0	4.038e-05	0	2.328e-05	1.292e-05	4.543e-05	0	0.0008	0	0	.	.	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	37884.9	193	chr3	195780371	.	C	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGACCTGTAGATACGGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGA	37884.9	.	AC=1;AF=0.05;AN=20;DP=5539;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.01;MLEAC=1;MLEAF=0.05;MQ=58.34;QD=26.44;SOR=0.75	GT:AD:DP:GQ:PL	0/0:0,0:11:99:4070,3744,15970	9	0	1	0
chr3	195780480	195780480	-	GTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTTGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.11099_11100insAAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCAACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCAC:p.T3700_I3701insSLSSVSTGDTTPLLVTNTSSASTGHATSLPVT,MUC4:NM_001322468:exon14:c.9707_9708insAAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCAACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCAC:p.G3237_A4615delinsSLSSVSTGDTTPLLVTNTSSASTGHATSLPVTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0004	0.0003	0.0003	0.0014	0.0003	0.0002	0.0006	0.0004	7.001e-05	0.0005	0.0008	0	0.0006	0.0014	0.0003	0.0003	0.0002	5.609e-05	6.054e-05	1.376e-05	0.0001	0.0003	2.708e-05	1.939e-05	0.0001	8.556e-05	3.045e-05	0	0.0003	0	0	0	0	2.952e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6815.39	356	chr3	195780480	.	G	GGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTTGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTT	6815.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.46;DP=4263;ExcessHet=0;FS=2.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.94;MQRankSum=-6.857;QD=15.21;ReadPosRankSum=-8.989;SOR=0.928	GT:AD:DP:GQ:PL	0/1:241,207:448:99:6827,0,9396	9	0	1	0
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	20258.3	171	chr3	195780499	.	G	*	20258.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.18;DP=3734;ExcessHet=0.0952;FS=13.515;InbreedingCoeff=0.3407;MLEAC=1;MLEAF=0.05;MQ=53.96;MQRankSum=-0.434;QD=15.01;ReadPosRankSum=-4.464;SOR=1.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	9	0	1	0
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	33331.8	360	chr3	195780501	.	C	*	33331.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.3;DP=3691;ExcessHet=0.1398;FS=3.222;InbreedingCoeff=0.2157;MLEAC=1;MLEAF=0.063;MQ=53.86;MQRankSum=-1.096;QD=20.18;ReadPosRankSum=-2.565;SOR=0.95	GT:AD:DP:GQ:PL	0/0:201,0:201:99:0,120,1800	7	0	1	2
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	10999.2	157	chr3	195780510	.	G	*	10999.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.543;DP=3329;ExcessHet=0;FS=6.602;InbreedingCoeff=0.6825;MLEAC=1;MLEAF=0.056;MQ=53.24;MQRankSum=3.23;QD=17.66;ReadPosRankSum=-3.247;SOR=1.172	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	8	0	1	1
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	10471.7	151	chr3	195780514	.	G	*	10471.7	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.903;DP=3659;ExcessHet=0;FS=3.239;InbreedingCoeff=0.6337;MLEAC=1;MLEAF=0.063;MQ=53.84;MQRankSum=2.76;QD=15.47;ReadPosRankSum=-4.006;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	7	0	1	2
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3059.69	142	chr3	195780525	.	GTC	*	3059.69	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.515;DP=3451;ExcessHet=0;FS=13.835;InbreedingCoeff=0.5606;MLEAC=2;MLEAF=0.125;MQ=53.6;MQRankSum=0.297;QD=21.55;ReadPosRankSum=1.02;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	7	1	0	2
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3539.68	142	chr3	195780526	.	TCCG	*	3539.68	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.18;DP=3471;ExcessHet=0;FS=3.005;InbreedingCoeff=0.6337;MLEAC=5;MLEAF=0.313;MQ=52.88;MQRankSum=3.73;QD=7.53;ReadPosRankSum=0.633;SOR=0.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	6	2	0	2
chr3	195781535	195781582	CGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9998_10045del:p.S3333_D3349delinsN,MUC4:NM_001322468:exon12:c.8819_8845del:p.V2940_A4615delinsGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	432	1084	3	0	3	6	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0005	0	0.0037	0	0.0017	0	0.0003	.	.	.	rs773375978	4.072e-05	0.0059	4.243e-05	3.896e-05	0.0003	3.176e-05	2.88e-05	2.611e-05	2.317e-05	0	3.061e-05	0.0002	9.239e-05	0.0001	0.0003	3.566e-05	5.609e-05	0	0.0005	0.0035	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	0.0002	0	0.0008	0.0009	0.0015	0.0006	0	0.0005	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1341.39	450	chr3	195781534	.	TCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGGGC	T	1341.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=3374;ExcessHet=0;FS=8.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.67;MQRankSum=-5.838;QD=2.98;ReadPosRankSum=-4.571;SOR=1.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	9	0	1	0
chr3	195781535	195781535	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	346.58	450	chr3	195781535	.	C	*	346.58	.	AC=1;AF=0.05;AN=20;DP=3381;ExcessHet=0.2348;FS=6.971;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.93;QD=0.44;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	9	0	1	0
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	100.58	450	chr3	195781545	.	C	*	100.58	.	AC=1;AF=0.05;AN=20;DP=3327;ExcessHet=0.2348;FS=4.98;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.65;QD=0.13;SOR=1.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	9	0	1	0
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6752.21	261	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	6752.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.71;DP=3743;ExcessHet=2.8389;FS=7.164;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=55.05;MQRankSum=-1.231;QD=2.81;ReadPosRankSum=-3.685;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	9	0	1	0
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	10308.7	261	chr3	195781583	.	T	*	10308.7	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.293;DP=3361;ExcessHet=1.5895;FS=5.126;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.125;MQ=56.7;MQRankSum=2.36;QD=6.55;ReadPosRankSum=-4.267;SOR=0.959	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	6	0	2	2
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32786.1	191	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	32786.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.448;DP=2955;ExcessHet=0.0072;FS=1.227;InbreedingCoeff=0.5833;MLEAC=3;MLEAF=0.15;MQ=53.45;MQRankSum=1.79;QD=17.97;ReadPosRankSum=2.39;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	7	0	3	0
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	10065.1	198	chr3	195781628	.	C	*	10065.1	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.47;DP=2902;ExcessHet=0.3131;FS=1.185;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=56.37;MQRankSum=1.27;QD=4.25;ReadPosRankSum=1.56;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:56,0:56:99:.:.:0,120,1800:.	5	3	2	0
chr3	195782158	195782158	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G9422A:p.S3141N	.	429	1080	8	0	5	13	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00413666342871	.	.	0.0020	0.0067	0.0053	0.0053	0.0011	0.0023	0	0.0006	0.0003363	52	154602	rs746330856	0.0002	0.0012	0.0002	0.0003	0.0014	0.0002	0.0002	0.0006	0.0005	0.0009	0.0003	0.0004	0.0003	0.0006	0.0014	0.0002	0.0004	0.0003	0.0009	0.0041	0.0010	0.0009	0.0021	0.0008	0.0007	0.0016	0.0014	0.0021	0	0.0009	0.0006	0.0005	0.0002	0	0.0005	0	0.0005	0.06	0.37326	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.75	0.21003	N	0.055	0.02658	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0050902963	0.00110	T	0.004137	0.09931	T	0.009	0.00846	.	.	0.0138822411134	0.00435	3.115421126634219E-4	0.00028	.	.	0.588040709496	0.51217	T	.	.	.	-0.376137	0.03295	T	-0.778071	0.02512	T	0.0141998693782046	0.00280	T	0.472453	0.14032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33273	B	.;.	.;.	-0.286937	0.02674	0.344	0.7398967156372207	0.10529	0.00110	0.00700	N	AEFBI	0.069643	0.13794	N	-1.26842644718318	0.04062	0.1826157	-1.3993107211073	0.03260	0.1516938	1.54762710099326E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.244000	0.08921	-4.607000	0.02072	-3.157000	0.00116	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5:0.5:0.0	3.585	0.07516	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.066778	0.117647	0.018817	0.016304	0.000000	0.029412	0.068966	0.063218	0.1	260.4	502	chr3	195782158	.	C	T	260.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-5.23;DP=4045;ExcessHet=0;FS=0;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=57.27;MQRankSum=-8.826;QD=0.58;ReadPosRankSum=6.08;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:601,0:601:0:.:.:0,0,13446:.	4	0	1	5
chr3	195782159	195782159	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A9421G:p.S3141G	.	430	1052	8	0	32	40	0.00378788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00399215593514	.	.	0.0021	0.0067	0.0050	0.0053	0.0011	0.0025	0	0.0006	0.0001164	18	154602	rs878957136	0.0003	0.0012	0.0002	0.0003	0.0026	0.0002	0.0002	0.0013	0.0009	0.0007	0.0005	0.0003	0.0002	0.0005	0.0026	0.0002	0.0004	0.0004	0.0007	0.0036	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0012	0	0.0008	0.0005	0	0.0002	0	0.0005	0	0.0004	0.107	0.29554	T	0.179	0.29540	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.52	0.31987	T	-0.95	0.25332	N	0.045	0.01740	-1.0154	0.25207	T	0.035	0.14943	T	7	0.0053928494	0.00118	T	0.003992	0.09462	T	0.009	0.00846	.	.	0.0138822411134	0.00435	2.4761697068474513E-4	0.00022	.	.	0.552296519279	0.46182	T	.	.	.	-0.351777	0.04616	T	-0.74308	0.03762	T	0.0136572361789874	0.00254	T	0.471053	0.13966	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20274	B	.;.	.;.	-0.357385	0.02376	0.261	0.36881785549618518	0.02398	0.00372	0.01892	N	AEFBI	0.070461	0.13989	N	-1.21758775206701	0.04744	0.214791	-1.34443261781201	0.03871	0.1815001	1.39184038827566E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.121000	0.10618	-2.585000	0.03580	-1.248000	0.01305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	3.621	0.07637	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.064167	0.117647	0.010870	0.016129	0.000000	0.029412	0.068966	0.068966	0.1	257.4	502	chr3	195782159	.	T	C	257.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-4.321;DP=4046;ExcessHet=0;FS=0;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=57.28;MQRankSum=-8.842;QD=0.57;ReadPosRankSum=6.1;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:601,0:601:0:.:.:0,0,13446:.	4	0	1	5
chr3	195782200	195782200	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9380A:p.S3127Y	.	426	1061	7	0	28	35	0.00328793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0093742069722	.	.	0.0010	0.0051	0	0.0032	0.0006	0.0009	0	0.0004	.	.	.	rs757354628	1.935e-05	6.326e-05	1.742e-05	2.135e-05	0.0003	1.309e-05	1.1e-05	0.0001	0.0001	0.0002	0	0	0.0003	0	0.0003	7.139e-06	4.163e-05	2.882e-05	4.931e-05	0.0003	4.121e-05	5.784e-05	7.923e-05	2.247e-05	1.615e-05	2.1e-05	1.082e-05	7.923e-05	0	7.193e-05	0	0	0	0	4.644e-05	0	0	0.001	0.78490	D	0.028	0.55341	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.37	0.34253	T	-1.12	0.28906	N	0.098	0.07949	-1.0471	0.15217	T	0.054	0.22959	T	7	0.014383912	0.00303	T	0.009374	0.24577	T	0.098	0.28162	.	.	0.1749357433	0.17121	1.0570646054035391E-4	0.00009	.	.	0.595713615417	0.52299	T	.	.	.	-0.240659	0.15265	T	-0.583466	0.14236	T	0.115360602736473	0.13971	T	0.884312	0.60710	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.57829	A	.;.	.;.	1.835683	0.23322	15.97	0.66572446463117263	0.08098	0.20911	0.21213	N	AEFBI	0.167029	0.29367	N	-0.725015443842149	0.15320	0.7710517	-0.925726695320293	0.11488	0.5855354	4.08127828342176E-4	0.06860	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	-0.318000	0.09987	-1.062000	0.01615	0.303000	0.25352	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.0:0.9999:0.0	6.865	0.23268	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.033594	0.064706	0.005102	0.000000	0.000000	0.000000	0.036290	0.030928	0.08333	362.47	477	chr3	195782200	.	G	T	362.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.4;DP=4175;ExcessHet=0;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=58.11;MQRankSum=-11.95;QD=0.85;ReadPosRankSum=-2.795;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:552,0:552:0:.:.:0,0,13015:.	5	0	1	4
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3923.74	328	chr3	195782507	.	G	*	3923.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.421;DP=4162;ExcessHet=0.7463;FS=1.13;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=54.61;MQRankSum=-10.59;QD=3.43;ReadPosRankSum=3.35;SOR=0.769	GT:AD:DP:GQ:PL	0/0:353,0:353:99:0,120,1800	8	0	2	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	11362.9	351	chr3	195782558	.	A	*	11362.9	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.593;DP=4385;ExcessHet=0.0197;FS=0.624;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=56.02;MQRankSum=-7.929;QD=6.56;ReadPosRankSum=2.02;SOR=0.742	GT:AD:DP:GQ:PL	0/0:371,0:371:99:0,120,1800	5	0	4	1
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	4996.18	186	chr3	195782605	.	A	*	4996.18	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.835;DP=4407;ExcessHet=0.0135;FS=1.322;InbreedingCoeff=0.2533;MLEAC=5;MLEAF=0.357;MQ=54.06;MQRankSum=-9.158;QD=4.07;ReadPosRankSum=0.336;SOR=0.814	GT:AD:DP:GQ:PL	0/0:324,0:324:99:0,120,1800	3	0	4	3
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	569.11	199	chr3	195782644	.	T	*	569.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.31;DP=4848;ExcessHet=3.2736;FS=0;InbreedingCoeff=-0.3919;MLEAC=5;MLEAF=0.357;MQ=54.14;MQRankSum=-5.761;QD=0.28;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/0:312,0:382:99:578,1492,8867	3	0	4	3
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	4304.11	426	chr3	195783070	.	A	*	4304.11	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.32;DP=4524;ExcessHet=0.8432;FS=3.312;InbreedingCoeff=-0.0992;MLEAC=1;MLEAF=0.063;MQ=58.02;MQRankSum=-12.82;QD=3.4;ReadPosRankSum=-3.095;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:390,0:390:99:.:.:0,120,1800:.	7	0	1	2
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	28885.0	201	chr3	195783084	.	A	*	28885.0	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.875;DP=4318;ExcessHet=0.0072;FS=2.198;InbreedingCoeff=0.5833;MLEAC=2;MLEAF=0.1;MQ=57.86;MQRankSum=6.76;QD=10.69;ReadPosRankSum=2.08;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:387,0:387:99:.:.:0,120,1800:.	8	0	2	0
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3231.45	189	chr3	195783086	.	A	*	3231.45	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.924;DP=4290;ExcessHet=1.8123;FS=1.145;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.125;MQ=57.7;MQRankSum=-8.752;QD=1.46;ReadPosRankSum=-4.574;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:387,0:387:99:.:.:0,120,1800:.	6	0	2	2
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	50493.3	198	chr3	195783093	.	A	*	50493.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.724;DP=4359;ExcessHet=0.0072;FS=0.764;InbreedingCoeff=0.2982;MLEAC=2;MLEAF=0.143;MQ=57.96;MQRankSum=-0.518;QD=18.43;ReadPosRankSum=-0.862;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:392,0:392:0:.:.:0,0,6744:.	5	0	2	3
chr3	195783310	195783357	TCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.8223_8270del:p.E2741_T2756del	.	427	1078	1	0	16	17	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.675e-06	4.465e-05	5.853e-06	7.52e-06	1.296e-05	3.14e-06	2.28e-06	2.79e-06	1.79e-06	0	0	0	0	0	0	6.708e-06	1.805e-05	1.296e-05	2.174e-05	0.0001	4.245e-05	0	0.0002	5.78e-06	2.6e-06	.	.	2.64e-05	0	0	0	0	0	0	1.635e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	251.01	401	chr3	195783309	.	GTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTC	G	251.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.927;DP=2425;ExcessHet=0;FS=1.752;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.73;MQRankSum=-4.653;QD=1.5;ReadPosRankSum=-2.545;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:225,0:225:99:.:.:0,120,1800:.	8	0	1	1
chr3	195783319	195783367	GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	0	exonic	MUC4	.	.	.	.	432	1069	2	0	19	21	0.000934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1349.57	401	chr3	195783319	.	GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAA	*	1349.57	.	AC=1;AF=0.056;AN=18;DP=2412;ExcessHet=0;FS=19.687;InbreedingCoeff=0.4805;MLEAC=1;MLEAF=0.056;MQ=52.81;QD=6.71;SOR=1.76	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:225,0:225:99:.:.:0,120,1800:.	8	0	1	1
chr3	195783321	195783321	A	0	exonic	MUC4	.	.	.	.	442	1046	17	2	15	36	0.00993848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2019.83	399	chr3	195783321	.	A	*	2019.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.633;DP=2468;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.1222;MLEAC=4;MLEAF=0.286;MQ=56.98;MQRankSum=1.48;QD=3.37;ReadPosRankSum=-0.792;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:225,0:225:99:.:.:0,120,1800:.	5	1	1	3
chr3	195783323	195783323	G	0	exonic	MUC4	.	.	.	.	0	218	3	0	5	8	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2118.83	391	chr3	195783323	.	G	*	2118.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.523;DP=2447;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.1222;MLEAC=4;MLEAF=0.286;MQ=57;MQRankSum=1.65;QD=3.52;ReadPosRankSum=0.527;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:225,0:225:99:.:.:0,120,1800:.	5	1	1	3
chr3	195783326	195783470	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	0	exonic	MUC4	.	.	.	.	434	1017	25	28	18	99	0.0382979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	8237.56	269	chr3	195783326	.	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	*	8237.56	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.756;DP=2068;ExcessHet=0;FS=2.648;InbreedingCoeff=0.7802;MLEAC=3;MLEAF=0.15;MQ=53.96;MQRankSum=0.175;QD=16.85;ReadPosRankSum=4.44;SOR=0.921	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:165:99:.:.:4116,4116,4116:.	8	1	1	0
chr3	195783332	195783332	T	0	exonic	MUC4	.	.	.	.	445	998	16	0	63	79	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2590.63	269	chr3	195783332	.	T	*	2590.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.628;DP=2091;ExcessHet=0.0072;FS=7.129;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=53.41;MQRankSum=-3.165;QD=3.64;ReadPosRankSum=5.36;SOR=1.16	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	1	0
chr3	195783335	195783335	C	0	exonic	MUC4	.	.	.	.	452	969	39	0	62	101	0.0197269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2541.63	269	chr3	195783335	.	C	*	2541.63	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.946;DP=2053;ExcessHet=0.0072;FS=7.183;InbreedingCoeff=0.5833;MLEAC=7;MLEAF=0.35;MQ=52.66;MQRankSum=-2.923;QD=3.62;ReadPosRankSum=5.65;SOR=1.184	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	1	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	6741.53	262	chr3	195783346	.	A	*	6741.53	.	AC=7;AF=0.583;AN=12;BaseQRankSum=1.81;DP=1982;ExcessHet=0;FS=0;InbreedingCoeff=0.6581;MLEAC=9;MLEAF=0.75;MQ=54.66;MQRankSum=1.23;QD=8.5;ReadPosRankSum=1.52;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	2	3	1	4
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5030.64	228	chr3	195783357	.	C	*	5030.64	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.25;DP=1743;ExcessHet=0;FS=1.363;InbreedingCoeff=0.4453;MLEAC=8;MLEAF=0.667;MQ=48.74;MQRankSum=1.28;QD=9.62;ReadPosRankSum=-3.531;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	3	0	4
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	3934.46	203	chr3	195783367	.	A	*	3934.46	.	AC=6;AF=0.6;AN=10;BaseQRankSum=4.29;DP=1517;ExcessHet=0;FS=0.846;InbreedingCoeff=0.3056;MLEAC=8;MLEAF=0.8;MQ=45.95;MQRankSum=-0.796;QD=8.1;ReadPosRankSum=-3.365;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	2	3	0	5
chr3	195783375	195783375	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.86	184	chr3	195783375	.	G	*	106.86	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.126;DP=1427;ExcessHet=0;FS=5.516;InbreedingCoeff=0.7222;MLEAC=6;MLEAF=0.333;MQ=35.23;MQRankSum=0.385;QD=0.34;ReadPosRankSum=-1.036;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	0	1
chr3	195783379	195783379	G	0	exonic	MUC4	.	.	.	.	3	172	18	18	15	69	0.135678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2039.5	184	chr3	195783379	.	G	*	2039.5	.	AC=6;AF=0.333;AN=18;DP=1416;ExcessHet=0;FS=0;InbreedingCoeff=0.9208;MLEAC=6;MLEAF=0.333;MQ=45.73;QD=5.63;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	3	0	1
chr3	195783380	195783380	T	0	exonic	MUC4	.	.	.	.	765	698	30	28	1	87	0.0580297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	483.38	186	chr3	195783380	.	T	*	483.38	.	AC=5;AF=0.417;AN=12;BaseQRankSum=4.23;DP=1385;ExcessHet=0.0125;FS=6.151;InbreedingCoeff=0.2314;MLEAC=6;MLEAF=0.5;MQ=47.62;MQRankSum=0.566;QD=1.21;ReadPosRankSum=-1.068;SOR=0.304	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	2	1	4
chr3	195783381	195783383	GTC	0	exonic	MUC4	.	.	.	.	696	688	46	34	58	172	0.0765101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1847.3	186	chr3	195783381	.	GTC	*	1847.3	.	AC=4;AF=0.4;AN=10;DP=1382;ExcessHet=0;FS=0;InbreedingCoeff=0.5539;MLEAC=6;MLEAF=0.6;MQ=43.59;QD=7.54;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	2	0	5
chr3	195783383	195783383	C	0	exonic	MUC4	.	.	.	.	697	686	76	62	1	201	0.127226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	269.64	183	chr3	195783383	.	C	*	269.64	.	AC=7;AF=0.583;AN=12;BaseQRankSum=4.08;DP=1386;ExcessHet=0.0125;FS=5.095;InbreedingCoeff=0.1822;MLEAC=9;MLEAF=0.75;MQ=47.74;MQRankSum=0.566;QD=0.61;ReadPosRankSum=-0.842;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	2	3	1	4
chr3	195783395	195783395	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2057.19	158	chr3	195783395	.	A	*	2057.19	.	AC=2;AF=0.25;AN=8;DP=1262;ExcessHet=0;FS=0;InbreedingCoeff=0.4987;MLEAC=3;MLEAF=0.375;MQ=49.74;QD=9.61;SOR=1.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	3	1	0	6
chr3	195783400	195783400	G	0	exonic	MUC4	.	.	.	.	581	868	25	28	20	101	0.044579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	526.28	149	chr3	195783400	.	G	*	526.28	.	AC=2;AF=0.2;AN=10;DP=1276;ExcessHet=0;FS=0;InbreedingCoeff=0.6247;MLEAC=3;MLEAF=0.3;MQ=48.57;QD=2.97;SOR=1.265	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	4	1	0	5
chr3	195783422	195783422	A	0	exonic	MUC4	.	.	.	.	663	798	25	28	8	89	0.0483005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1379.31	40	chr3	195783422	.	A	*	1379.31	.	AC=2;AF=0.143;AN=14;DP=954;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.32;QD=6.93;SOR=1.405	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	1	0	3
chr3	195783427	195783432	GTGTCA	0	exonic	MUC4	.	.	.	.	582	882	25	28	5	86	0.0439024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1246.3	40	chr3	195783427	.	GTGTCA	*	1246.3	.	AC=2;AF=0.143;AN=14;DP=950;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.63;QD=6.39;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	6	1	0	3
chr3	195783436	195783479	GTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTC	0	exonic	MUC4	.	.	.	.	562	903	25	28	4	85	0.0429253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1065.41	40	chr3	195783436	.	GTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTC	*	1065.41	.	AC=2;AF=0.125;AN=16;DP=595;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=52.1;QD=5.64;SOR=1.417	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:4116,372,0:.	7	1	0	2
chr3	195783896	195783896	-	AAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7683_7684insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.L2561_P2562insSVTDTSSVSTGHATPLHVTSPSSASTGHATPL,MUC4:NM_001322468:exon7:c.7635_7636insTCTGTCACCGACACTTCCTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCACCGGTCACGCCACCCCTCTT:p.S2547_A4615delinsVTDTSSVSTGHATPLHVTSPSSASTGHATPLSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	442	951	27	0	102	129	0.0139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0029	0.0045	0	0	0.0049	0.0090	0.0027	0.0004916	76	154602	.	0.0040	0.0071	0.0039	0.0042	0.0239	0.0039	0.0039	0.0196	0.0180	0.0026	0.0060	0.0070	0	0.0071	0.0239	0.0037	0.0065	0.0041	0.0018	0.0063	0.0021	0.0015	0.0024	0.0016	0.0015	0.0021	0.0020	0.0010	0.0026	0.0024	0.0003	0	0.0015	0	0.0024	0.0012	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	27926.1	463	chr3	195783896	.	G	GAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGAGGAAGTGTCGGTGACAGA	27926.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.176;DP=5220;ExcessHet=2.8389;FS=0.604;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.7;MQRankSum=-5.849;QD=15.1;ReadPosRankSum=-8.49;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,75:279:99:.:.:8905,0,6227:.	5	0	5	0
chr3	195784041	195784041	-	GGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.7538_7539insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.P2514Hfs*25,MUC4:NM_001322468:exon7:c.7490_7491insTCATGTCACCGATGCTTCCTCAGTATCCACAGGTCACACC:p.A2498Hfs*50	.	420	1073	7	0	22	29	0.00325128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256446582	5.133e-05	0.0009	5.072e-05	5.194e-05	0.0001	4.02e-05	3.601e-05	3.966e-05	3.524e-05	4.372e-05	0	0.0002	0.0001	0	0	5.265e-05	9.338e-05	0	0.0003	0.0024	0.0002	0.0003	0.0003	0.0002	0.0001	0.0001	0.0001	0.0002	0	0.0002	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	858.01	660	chr3	195784041	.	T	TGGTGTGACCTGTGGATACTGAGGAAGCATCGGTGACATGA	858.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.01;DP=5346;ExcessHet=0;FS=3.042;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.58;MQRankSum=-12.17;QD=1.48;ReadPosRankSum=-9.236;SOR=0.892	GT:AD:DP:GQ:PL	0/0:523,0:523:99:0,120,1800	8	0	1	1
chr3	195784162	195784162	-	CTGAGGAAGCGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.7417_7418insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGGCACCGACGCTTCCTCAG:p.S2472_V2473insASTGHATPLPVTSTSSASTGDTTPLPGTDASS,MUC4:NM_001322468:exon7:c.7369_7370insCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGGCACCGACGCTTCCTCAG:p.L2458_A4615delinsSTGHATPLPVTSTSSASTGDTTPLPGTDASSALPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.796e-05	8.142e-05	2.984e-05	2.603e-05	0.0002	2.063e-05	1.801e-05	6.242e-05	4.052e-05	7.898e-05	0.0002	8.915e-05	0	4.231e-05	0.0002	1.549e-05	9.42e-05	5.299e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1731.39	733	chr3	195784162	.	A	ACTGAGGAAGCGTCGGTGCCAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATG	1731.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.209;DP=5489;ExcessHet=0;FS=4.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.35;MQRankSum=-9.212;QD=6.37;ReadPosRankSum=-2.042;SOR=0.87	GT:AD:DP:GQ:PL	0/0:505,0:505:99:0,120,1800	9	0	1	0
chr3	195784267	195784290	ACGTTGGTGACAGGAAGACGGGTG	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7290_7313del:p.T2431_V2438del,MUC4:NM_001322468:exon7:c.7242_7265del:p.P2415_A4615delinsTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	424	1077	8	0	13	21	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.276e-05	0	0	0	0	0.0002	0	0	.	.	.	rs773708999	0.0024	0.0088	0.0023	0.0024	0.0156	0.0023	0.0023	0.0125	0.0113	0.0034	0.0042	0.0047	0	0.0029	0.0156	0.0021	0.0034	0.0026	0.0001	0.0015	0.0001	0.0002	0.0005	9.324e-05	7.791e-05	0.0002	0.0002	0.0001	0	0.0005	0.0003	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	5578.01	615	chr3	195784266	.	AACGTTGGTGACAGGAAGACGGGTG	A	5578.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.56;DP=5849;ExcessHet=0;FS=6.378;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=55.33;MQRankSum=-16.51;QD=11.74;ReadPosRankSum=-5.424;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,161:475:99:0|1:195784172_T_C:5589,0,12701:195784172	8	0	1	1
chr3	195784271	195784271	T	0	exonic	MUC4	.	.	.	.	445	567	491	0	19	510	0.302154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	25636.5	636	chr3	195784271	.	T	*	25636.5	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.892;DP=7053;ExcessHet=4.5998;FS=1.163;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.063;MQ=59.36;MQRankSum=-4.458;QD=5.16;ReadPosRankSum=-1.126;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:314,161:475:99:0|1:195784172_T_C:5589,0,12701:195784172	7	0	1	2
chr3	195784295	195784318	CACCTGTGGAAGCTGAGGAAAGGC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7262_7285del:p.G2421_G2428del,MUC4:NM_001322468:exon7:c.7214_7237del:p.G2405_A4615delinsASPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	416	1086	7	0	13	20	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs775224465	0.0022	0.0088	0.0022	0.0023	0.0151	0.0022	0.0021	0.0121	0.0110	0.0032	0.0043	0.0049	0	0.0030	0.0151	0.0020	0.0034	0.0026	0.0001	0.0014	9.675e-05	0.0001	0.0003	6.433e-05	5.217e-05	0.0001	8.824e-05	8.575e-05	0	0.0003	0.0003	0	0	0	9.109e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	6397.01	632	chr3	195784294	.	TCACCTGTGGAAGCTGAGGAAAGGC	T	6397.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=6.01;DP=6802;ExcessHet=0;FS=3.341;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.94;MQRankSum=-15.59;QD=13.55;ReadPosRankSum=-6.767;SOR=0.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,179:472:99:0|1:195784172_T_C:6408,0,11734:195784172	8	0	1	1
chr3	195784299	195784299	T	0	exonic	MUC4	.	.	.	.	418	1069	19	1	15	36	0.00972673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3168.19	632	chr3	195784299	.	T	*	3168.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.583;DP=6897;ExcessHet=0.2348;FS=1.235;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.59;MQRankSum=2.22;QD=2.32;ReadPosRankSum=-1.026;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,179:472:99:0|1:195784172_T_C:6408,0,11734:195784172	8	0	1	1
chr3	195784340	195784340	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G7240A:p.A2414T,MUC4:NM_001322468:exon7:c.G7192A:p.A2398T	.	460	1045	15	2	0	19	0.00900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00433362787869	.	.	0.0003	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs200964957	0.0022	0.0036	0.0020	0.0024	0.0109	0.0021	0.0021	0.0083	0.0074	0.0032	0.0050	0.0043	0	0.0036	0.0109	0.0019	0.0030	0.0032	0.0007	0.0039	0.0008	0.0007	0.0013	0.0006	0.0005	0.0007	0.0006	0.0011	0	0.0013	0.0008	0	0	0	0.0006	0.0008	0.0006	0.575	0.13219	T	0.299	0.20615	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	.	.	.	1.38	0.34050	T	0.17	0.06612	N	0.043	0.01658	-1.0104	0.26791	T	0.028	0.11926	T	7	0.032047182	0.01349	T	0.004334	0.10529	T	0.017	0.02790	.	.	0.0138822411134	0.00435	4.8440990828133E-4	0.00044	.	.	0.495961010456	0.38265	T	.	.	.	-0.334216	0.05799	T	-0.717854	0.04901	T	0.00313935512708717	0.00033	T	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03811	B	.;.	.;.	0.528788	0.08976	5.756	0.94107301117828379	0.24274	0.00235	0.01311	N	AEFBCI	0.041178	0.06227	N	-1.31152042636515	0.03542	0.1584179	-1.39536983910569	0.03301	0.1537084	1.36829983409383E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-4.156000	0.00322	-4.105000	0.02340	-2.064000	0.00412	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	1.0E-4:0.5541:0.4458:1.0E-4	4.188	0.09869	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025384	0.036842	0.016340	0.057522	0.000000	0.010638	0.021875	0.003968	0.07143	8466.52	632	chr3	195784340	.	C	T	8466.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.262;DP=7180;ExcessHet=0;FS=4.051;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=54.59;MQRankSum=-11.89;QD=18.09;ReadPosRankSum=-5.615;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,235:468:99:0|1:195784172_T_C:8476,0,8672:195784172	6	0	1	3
chr3	195784343	195784343	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C7237G:p.H2413D,MUC4:NM_001322468:exon7:c.C7189G:p.H2397D	.	428	1009	55	7	23	92	0.0330618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00480540183533	.	.	0.0002	0	0	0	0	0.0005	0	0	3.84e-05	1	26028	rs202190300	0.0030	0.0072	0.0028	0.0032	0.0156	0.0029	0.0028	0.0125	0.0114	0.0034	0.0055	0.0056	0	0.0057	0.0156	0.0026	0.0040	0.0037	0.0002	0.0031	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0.0010	0	0	0	0.0003	0.0006	0	1.0	0.02017	T	0.195	0.28300	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29342	T	-0.17	0.09627	N	0.166	0.17553	-1.0072	0.27789	T	0.036	0.15334	T	7	0.046534777	0.03856	T	0.004805	0.12004	T	0.025	0.05312	.	.	0.0138822411134	0.00435	6.529260570088327E-4	0.00060	.	.	0.507045388222	0.39809	T	.	.	.	-0.348596	0.04816	T	-0.738511	0.03953	T	0.0315731556165468	0.02238	T	0.566543	0.20051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	-0.449607	0.02034	0.183	0.84245075148163384	0.15179	0.00328	0.01715	N	AEFBCI	0.042811	0.06688	N	-1.40519715015048	0.02593	0.1147022	-1.53226286008654	0.02100	0.09610031	1.84639979935336E-5	0.02871	0.447487	0.09398	2	0.546412	0.12157	0	0.49644	0.08281	0	0.613276	0.41899	0	.	.	.	.	.	-3.341000	0.00560	-1.066000	0.06436	-2.392000	0.00297	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	1.0E-4:0.0:0.6456:0.3543	4.69	0.12158	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037603	0.042553	0.035599	0.082609	0.000000	0.021277	0.028481	0.007937	0.0625	10796.0	461	chr3	195784343	.	G	C	10796.0	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.869;DP=7347;ExcessHet=0.7463;FS=2.732;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.063;MQ=57.26;MQRankSum=-11.14;QD=8.21;ReadPosRankSum=-9.662;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,255:481:99:0|1:195784172_T_C:8561,0,8300:195784172	7	0	1	2
chr3	195784560	195784655	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6925_7020del:p.D2309_T2340del,MUC4:NM_001322468:exon7:c.6877_6972del:p.L2297_A4615delinsPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	515	990	6	1	10	18	0.00402414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0062	0.0072	0	0.0029	0.0141	0.0133	0.0026	0.0013063	34	26028	.	0.0015	0.0016	0.0013	0.0017	0.0073	0.0014	0.0014	0.0049	0.0042	0.0015	0.0011	0.0017	0.0003	0.0028	0.0073	0.0015	0.0023	0.0006	0.0054	0.0063	0.0059	0.0049	0.0068	0.0050	0.0049	0.0062	0.0060	0.0034	0.0048	0.0063	0.0058	0	0.0041	0	0.0068	0.0048	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3573.01	824	chr3	195784559	.	TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTC	T	3573.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.02;DP=6340;ExcessHet=0;FS=2.429;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.12;MQRankSum=-1.447;QD=9.26;ReadPosRankSum=1.74;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:791,0:791:99:.:.:0,120,1800:.	8	0	1	1
chr3	195784560	195784560	A	0	exonic	MUC4	.	.	.	.	21	200	1	1	3	6	0.00744417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6032.7	801	chr3	195784560	.	A	*	6032.7	.	AC=1;AF=0.167;AN=6;BaseQRankSum=0.521;DP=5962;ExcessHet=0.2633;FS=0.537;InbreedingCoeff=-0.2698;MLEAC=2;MLEAF=0.333;MQ=56.86;MQRankSum=-10.44;QD=7.29;ReadPosRankSum=0.331;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:247,0:442:99:0|1:195784560_A_G:6038,6781,16720:195784560	2	0	1	7
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	22762.4	716	chr3	195784574	.	GC	*	22762.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.9;DP=6217;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=57.08;MQRankSum=-1.079;QD=13.07;ReadPosRankSum=2.22;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:437,0:437:99:.:.:0,120,1800:.	9	0	1	0
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5773.97	686	chr3	195784575	.	C	*	5773.97	.	AC=3;AF=0.3;AN=10;BaseQRankSum=2.17;DP=6145;ExcessHet=2.5225;FS=1.103;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.4;MQ=57.09;MQRankSum=-9.307;QD=2.62;ReadPosRankSum=1.3;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:272,0:457:99:0|1:195784560_A_G:5781,6600,17589:195784560	2	0	3	5
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	21397.4	673	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	*	21397.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.36;DP=6790;ExcessHet=0.7463;FS=0.521;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=57.5;MQRankSum=-3.186;QD=9.81;ReadPosRankSum=2.64;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:440,0:440:99:.:.:0,120,1800:.	9	0	1	0
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5563.83	658	chr3	195784580	.	T	*	5563.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.239;DP=6780;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.15;MQRankSum=-11.73;QD=2.19;ReadPosRankSum=0.293;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:282,0:459:99:0|1:195784560_A_G:5573,6421,17897:195784560	4	0	3	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5461.83	652	chr3	195784583	.	C	*	5461.83	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.267;DP=6748;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.89;QD=2.16;ReadPosRankSum=0.914;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:284,0:455:99:0|1:195784560_A_G:5471,6326,17918:195784560	4	0	3	3
chr3	195784603	195784603	A	0	exonic	MUC4	.	.	.	.	606	833	68	9	6	92	0.0490868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	7463.08	560	chr3	195784603	.	A	*	7463.08	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.895;DP=5841;ExcessHet=2.1085;FS=0;InbreedingCoeff=-0.1776;MLEAC=4;MLEAF=0.286;MQ=57.1;MQRankSum=-7.111;QD=2.84;ReadPosRankSum=0.069;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:286,0:499:99:0|1:195784560_A_G:7472,8333,20224:195784560	4	0	3	3
chr3	195784615	195784615	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C6965A:p.P2322H,MUC4:NM_001322468:exon7:c.C6917A:p.P2306H	.	449	992	64	9	8	90	0.0396902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0023	0.0024	0.0029	0	0.0102	0.0026	0.0050	0.0004	0.0002689	7	26028	rs202186297	0.0004	0.0005	0.0004	0.0004	0.0023	0.0004	0.0004	0.0013	0.0012	0.0018	3.126e-05	0.0011	0	0.0019	0.0023	0.0004	0.0005	0	0.0012	0.0023	0.0011	0.0012	0.0016	0.0010	0.0009	0.0013	0.0012	0.0005	0.0026	0.0014	0.0007	0	0.0010	0.0097	0.0016	0.0013	0.0003	0.038	0.42783	D	0.097	0.39340	T	.	.	.	.	.	.	0.027698	0.25717	U	0.000000	0.999999	0.58761	D	.	.	.	1.4	0.33630	T	-0.4	0.15178	N	0.073	0.04668	-1.0243	0.22311	T	0.035	0.15117	T	8	0.0055631995	0.00123	T	.	.	.	0.011	0.01250	.	.	0.0138822411134	0.00435	0.0072099077194718	0.00686	.	.	0.515149652958	0.40944	T	.	.	.	-0.294118	0.09227	T	-0.660257	0.08249	T	0.00524648325517774	0.00057	T	0.589041	0.21605	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27523	B	.;.	.;.	2.050602	0.26070	16.99	0.86831532698498159	0.16802	0.00189	0.01098	N	AEFBI	0.041828	0.06411	N	-1.32881247330487	0.03350	0.1494802	-1.42498601879995	0.03004	0.1393107	2.14370694880792E-5	0.03498	0.615465	0.37627	0	0.54472	0.11627	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.026000	0.13490	-1.275000	0.05842	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.046260	0.060811	0.024648	0.081081	0.000000	0.064516	0.047170	0.031250	0.1	6485.54	495	chr3	195784615	.	G	T	6485.54	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.938;DP=5136;ExcessHet=0.2996;FS=1.841;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.1;MQ=57.15;MQRankSum=-12.76;QD=7.6;ReadPosRankSum=-3.227;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,180:467:99:0|1:195784560_A_G:6493,0,11143:195784560	4	0	1	5
chr3	195784615	195784615	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	6485.54	495	chr3	195784615	.	G	*	6485.54	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.938;DP=5136;ExcessHet=0.2996;FS=1.841;InbreedingCoeff=-0.0449;MLEAC=1;MLEAF=0.1;MQ=57.15;MQRankSum=-12.76;QD=7.6;ReadPosRankSum=-3.227;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:287,0:467:99:0|1:195784560_A_G:6493,7357,19041:195784560	4	0	1	5
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	38825.6	566	chr3	195784652	.	C	*	38825.6	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.788;DP=5363;ExcessHet=0.218;FS=0.542;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.64;MQRankSum=-9.751;QD=18.23;ReadPosRankSum=0.127;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:352,0:352:99:.:.:0,120,1800:.	4	0	2	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39296.4	576	chr3	195784654	.	T	*	39296.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.53;DP=5402;ExcessHet=0.218;FS=0.544;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.71;MQRankSum=-9.883;QD=18.23;ReadPosRankSum=0.361;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:352,0:352:99:.:.:0,120,1800:.	4	0	2	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	39365.4	576	chr3	195784655	.	C	*	39365.4	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.19;DP=5404;ExcessHet=0.218;FS=0.541;InbreedingCoeff=0.0667;MLEAC=3;MLEAF=0.25;MQ=52.71;MQRankSum=-9.837;QD=18.24;ReadPosRankSum=-0.003;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:352,0:352:99:.:.:0,120,1800:.	4	0	2	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	67533.5	972	chr3	195784719	.	A	*	67533.5	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.204;DP=7235;ExcessHet=0.7136;FS=0;InbreedingCoeff=0.0111;MLEAC=1;MLEAF=0.1;MQ=57.28;MQRankSum=-5.577;QD=20.43;ReadPosRankSum=-2.656;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:366,0:366:0:.:.:0,0,7221:.	4	0	1	5
chr3	195785314	195785314	-	C	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6265_6266insG:p.I2089Sfs*27,MUC4:NM_001322468:exon6:c.6265_6266insG:p.S2089Cfs*110	.	482	1018	3	1	18	23	0.00244978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0004	0	0	0	8.29e-05	0	0.0001	.	.	.	rs764936489	0.0004	0.0014	0.0003	0.0005	0.0021	0.0004	0.0004	0.0016	0.0015	0.0021	0.0005	0.0004	0.0002	0.0011	0.0005	0.0003	0.0007	0.0003	0.0006	0.0014	0.0006	0.0007	0.0015	0.0005	0.0005	0.0011	0.0010	0.0015	0	0.0002	0	0	0.0002	0	0.0005	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	2334.33	946	chr3	195785314	.	A	AC	2334.33	.	AC=2;AF=0.111;AN=18;BaseQRankSum=2.52;DP=6620;ExcessHet=0.2348;FS=5.425;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=57.4;MQRankSum=0.686;QD=2.05;ReadPosRankSum=2.24;SOR=1.181	GT:AD:DP:GQ:PL	0/0:397,0:397:99:0,120,1800	7	0	2	1
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931,MUC4:NM_001322468:exon6:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.S2089Vfs*236	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	218415.0	948	chr3	195785315	.	T	TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	218415.0	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.131;DP=6769;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=2;MLEAF=0.1;MQ=57.28;MQRankSum=-0.476;QD=34.33;ReadPosRankSum=1.04;SOR=0.431	GT:AD:DP:GQ:PL	0/0:0,0:400:99:14279,14279,14279	8	0	2	0
chr3	195785363	195785410	CTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.6170_6217del:p.V2057_S2072del,MUC4:NM_001322468:exon6:c.6170_6217del:p.H2059_A4615delinsPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	439	1067	8	0	8	16	0.00373483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0026	0.0034	0.0020	0	0.0050	0.0036	0.0039	0.0009	.	.	.	rs779281839	4.13e-05	0.0003	3.778e-05	4.493e-05	0.0007	3.262e-05	2.932e-05	0.0002	0.0001	6.538e-05	2.942e-05	0	0	2.118e-05	0.0007	3.809e-05	7.157e-05	6.563e-05	6.181e-05	0.0007	7.557e-05	4.743e-05	0.0002	3.054e-05	2.216e-05	6.249e-05	4.057e-05	0.0002	0	7.759e-05	0	0	0	0	3.253e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	352.39	1015	chr3	195785362	.	GCTGAGGAAGGGTTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATA	G	352.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.29;DP=5989;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.35;MQRankSum=-11.03;QD=0.35;ReadPosRankSum=-6.007;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:294,0:294:99:.:.:0,120,1800:.	9	0	1	0
chr3	195785364	195785364	T	0	exonic	MUC4	.	.	.	.	441	974	97	0	10	107	0.0474328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5614.58	1015	chr3	195785364	.	T	*	5614.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.855;DP=6000;ExcessHet=0.2348;FS=1.596;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=56.74;MQRankSum=0.658;QD=3.57;ReadPosRankSum=-4.95;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:294,0:294:99:.:.:0,120,1800:.	9	0	1	0
chr3	195785371	195785371	G	0	exonic	MUC4	.	.	.	.	5	198	22	0	1	23	0.0526316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5763.94	1015	chr3	195785371	.	G	*	5763.94	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=5992;ExcessHet=1.5895;FS=3.979;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=-5.797;QD=2.75;ReadPosRankSum=-4.675;SOR=1.12	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:276,0:304:99:0|1:195785310_G_A:345,1176,12765:195785310	9	0	1	0
chr3	195785372	195785372	G	0	exonic	MUC4	.	.	.	.	529	885	99	0	9	108	0.0529695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5107.58	1015	chr3	195785372	.	G	*	5107.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=5964;ExcessHet=0.2348;FS=1.65;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=56.64;MQRankSum=0.08;QD=3.29;ReadPosRankSum=-5.81;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:293,0:293:99:.:.:0,120,1800:.	9	0	1	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	185681.0	800	chr3	195785374	.	T	*	185681.0	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=5961;ExcessHet=0;FS=2.066;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.63;MQRankSum=-0.238;QD=32.44;ReadPosRankSum=0.555;SOR=0.289	GT:AD:DP:GQ:PL	0/0:0,0:290:99:9156,9156,9156	9	0	1	0
chr3	195785546	195785546	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G6034A:p.G2012R,MUC4:NM_001322468:exon6:c.G6034A:p.G2012R	.	415	1102	3	0	2	5	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00183772928529	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328937283	2.183e-05	3.986e-05	2.155e-05	2.211e-05	3.545e-05	1.548e-05	1.344e-05	1.701e-05	1.445e-05	3.545e-05	0	0	0	0	0	2.445e-05	5.285e-05	0	7.005e-06	6.723e-06	0	1.432e-05	2.871e-05	0	0	.	.	2.871e-05	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-0.23	0.10656	N	0.094	0.14196	-1.0134	0.25848	T	0.039	0.16634	T	6	0.0605447	0.07454	T	0.001838	0.03193	T	0.013	0.01715	0.199	0.11247	0.0762999501168	0.06990	2.687417375514599E-4	0.00023	.	.	0.518753051758	0.41451	T	.	.	.	-0.317551	0.07100	T	-0.693917	0.06165	T	0.0394852827155222	0.03597	T	0.90001	0.65253	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.60324	A	.;.	.;.	1.505043	0.19339	14.21	0.91339311350640118	0.20602	0.00588	0.02641	N	AEFBCI	0.051968	0.09233	N	-1.20511845006586	0.04924	0.2233166	-1.32314163270973	0.04133	0.194282	1.25408671361993E-5	0.02871	0.554377	0.28877	0	0.550933	0.16991	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	1.042000	0.29914	-4.458000	0.02146	0.055000	0.17525	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	.	.	.	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4086.43	731	chr3	195785546	.	C	T	4086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=5290;ExcessHet=0;FS=1.841;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=-0.471;QD=7.72;ReadPosRankSum=-0.55;SOR=0.782	GT:AD:DP:GQ:PL	0/0:232,0:232:99:0,120,1800	9	0	1	0
chr3	195785732	195785732	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A5848G:p.T1950A,MUC4:NM_001322468:exon6:c.A5848G:p.T1950A	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00153266145887	.	.	0.0004	0	0.0020	0.0021	0	0.0003	0	0.0003	0.0025357	66	26028	rs79969373	0.0004	0.0008	0.0004	0.0005	0.0132	0.0004	0.0004	0.0118	0.0113	0.0132	0.0005	0.0003	0.0008	0.0001	0.0012	0.0002	0.0007	0.0004	0.0020	0.0036	0.0020	0.0020	0.0081	0.0017	0.0017	0.0070	0.0066	0.0081	0	0.0007	0.0003	0.0016	0.0001	0.0093	0.0007	0.0022	0.0016	0.859	0.03857	T	0.106	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.82	0.26737	T	-0.17	0.09627	N	0.018	0.01421	-0.9826	0.34398	T	0.024	0.10284	T	7	0.009837478	0.00221	T	0.001533	0.02394	T	0.010	0.01040	.	.	0.0138822411134	0.00435	1.8487613766991287E-4	0.00016	.	.	0.524014055729	0.42192	T	.	.	.	-0.373839	0.03404	T	-0.774771	0.02615	T	0.0257902557260247	0.01378	T	0.536146	0.17993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03407	B	.;.	.;.	0.104330	0.05051	1.595	0.55520222325972501	0.05359	0.01140	0.04135	N	AEFDBCI	0.054934	0.10031	N	-1.31249483791876	0.03531	0.1579037	-1.40303113639514	0.03221	0.1498323	1.1801956262733E-5	0.02871	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.634000	0.05575	-0.548000	0.08544	-1.217000	0.01344	0.001000	0.13787	0.001000	0.17328	0.002000	0.04165	3.0E-4:2.0E-4:0.4983:0.5012	2.830	0.05161	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.079412	0.143617	0.100629	0.099099	0.000000	0.092593	0.039216	0.016807	0.05	9384.16	687	chr3	195785732	.	T	C	9384.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=6283;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=56.42;MQRankSum=-13.02;QD=6.86;ReadPosRankSum=-3.896;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:296,0:441:99:.:.:4576,4604,17235:.	9	0	1	0
chr3	195785732	195785732	-	GTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.H1949_T1950insATSLPVTDASSVSTGHATSVPVTIPSSASSGD,MUC4:NM_001322468:exon6:c.5847_5848insGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTGTTCCTGTCACCATCCCTTCCTCAGCATCCTCAGGTGAC:p.S1950_A4615delinsATSLPVTDASSVSTGHATSVPVTIPSSASSGDSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	425	1062	9	0	26	35	0.00421941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0006	0	0	.	.	.	.	0.0015	0.0025	0.0014	0.0016	0.0094	0.0014	0.0014	0.0069	0.0060	0.0012	0.0012	0.0025	0	0.0033	0.0094	0.0014	0.0019	0.0016	0.0001	0.0002	3.884e-05	0.0003	0.0002	9.084e-05	7.337e-05	0.0001	7.695e-05	0.0002	0	9.632e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	9384.16	687	chr3	195785732	.	T	TGTCACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAACAGAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGC	9384.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.63;DP=6283;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=56.42;MQRankSum=-13.02;QD=6.86;ReadPosRankSum=-3.896;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:296,145:441:99:.:.:4576,0,11517:.	8	0	2	0
chr3	195786527	195786527	-	GGTGACAGGAAGAGGGGTGGCGTGTCCTGTGGATACTGAGGAATTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGAAAGTGCT	exonic;splicing	MUC4;MUC4	NM_001322468:exon5:c.5051+2->AGCACTTTCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGACACGCCACCCCTCTTCCTGTCACC	nonframeshift insertion	MUC4:NM_018406:exon2:c.5052_5053insAGCACTTTCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGACACGCCACCCCTCTTCCTGTCACC:p.T1684_G1685insSTFSASTGHATPLPVTDNSSVSTGHATPLPVT,MUC4:NM_001322468:exon6:c.5052_5053insAGCACTTTCTCAGCATCCACCGGTCACGCCACCCCTCTTCCTGTCACCGACAATTCCTCAGTATCCACAGGACACGCCACCCCTCTTCCTGTCACC:p.G1685_A4615delinsSTFSASTGHATPLPVTDNSSVSTGHATPLPVTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.504e-06	5.242e-06	1.647e-06	3.384e-06	3.242e-06	6.7e-07	1.9e-07	8.6e-07	2.4e-07	0	0	0	0	0	0	3.242e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	20489.4	323	chr3	195786527	.	C	CGGTGACAGGAAGAGGGGTGGCGTGTCCTGTGGATACTGAGGAATTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGAAAGTGCT	20489.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.742;DP=4871;ExcessHet=7.0302;FS=1.39;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.05;MQ=54.57;MQRankSum=-7.47;QD=12.29;ReadPosRankSum=-4.423;SOR=0.799	GT:AD:DP:GQ:PL	0/0:269,0:361:99:7725,8005,18858	9	0	1	0
chr3	195787220	195787224	TGTGA	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.4356_4360del:p.T1454Pfs*30,MUC4:NM_001322468:exon5:c.4356_4360del:p.T1453Hfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	rs780499376	5.497e-05	0.0005	4.775e-05	6.154e-05	0.0004	3.854e-05	3.331e-05	0.0001	7.193e-05	0.0004	0	6.827e-05	0	0	0	6.96e-05	0	1.93e-05	0	0.0012	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	70.23	13	chr3	195787219	.	GTGTGA	G	70.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.41;DP=134;ExcessHet=0.2348;FS=5.192;InbreedingCoeff=-0.117;MLEAC=2;MLEAF=0.1;MQ=38.66;MQRankSum=0.785;QD=1.85;ReadPosRankSum=-0.778;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:12:.:.:0,12,180:.	8	0	2	0
chr3	195787220	195787220	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A4360G:p.T1454A,MUC4:NM_001322468:exon5:c.A4360G:p.T1454A	.	716	790	14	0	2	16	0.00878294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00102655041167	.	.	0.0014	0	0	0	0	0	0	0.0048	.	.	.	rs57375766	0.0022	0.0051	0.0024	0.0021	0.0103	0.0021	0.0021	0.0085	0.0078	0.0103	0.0012	0.0017	0.0007	0.0017	0.0081	0.0024	0.0026	0.0017	0.0002	0.0062	0.0001	0.0003	0.0015	4.8e-05	2.501e-05	0.0004	0.0002	0	0	0.0015	0	0	0	0	0	0	0	0.263	0.16412	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.62	0.28391	T	-0.17	0.09627	N	0.024	0.00618	-1.0658	0.10362	T	0.046	0.19680	T	8	0.005870551	0.00131	T	0.001027	0.01144	T	0.072	0.21020	.	.	0.0138822411134	0.00435	3.0172336509108314E-5	0.00003	.	.	0.48078930378	0.36165	T	.	.	.	-0.307554	0.07966	T	-0.679556	0.07011	T	0.0269427735501035	0.01536	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04599	B	.;.	.;.	0.084564	0.04899	1.480	0.357751460619124	0.02264	0.00079	0.00540	N	AEFI	0.028332	0.02477	N	-1.40416669456761	0.02602	0.1151234	-1.63178825129872	0.01473	0.06663774	2.25658350194566E-4	0.06048	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.844	-1.69	0.07747	-1.282000	0.02907	-2.264000	0.03979	-1.644000	0.00835	0.003000	0.16062	0.000000	0.08366	0.005000	0.06747	0.0:0.2503:0.2814:0.4683	2.472	0.04289	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	97.35	13	chr3	195787220	.	T	C	97.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.484;DP=136;ExcessHet=0.8432;FS=7.592;InbreedingCoeff=-0.2142;MLEAC=1;MLEAF=0.056;MQ=37.83;MQRankSum=0.605;QD=1.95;ReadPosRankSum=-2.189;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,3:12:99:0|1:195787173_C_A:108,0,168:195787173	8	0	1	1
chr3	195787220	195787220	T	0	exonic	MUC4	.	.	.	.	716	790	14	0	2	16	0.00878294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	97.35	13	chr3	195787220	.	T	*	97.35	.	AC=2;AF=0.111;AN=18;BaseQRankSum=0.484;DP=136;ExcessHet=0.8432;FS=7.592;InbreedingCoeff=-0.2142;MLEAC=2;MLEAF=0.111;MQ=37.83;MQRankSum=0.605;QD=1.95;ReadPosRankSum=-2.189;SOR=2.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:9,0:12:99:0|1:195787173_C_A:108,126,303:195787173	7	0	2	1
chr3	195787221	195787221	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C4359G:p.H1453Q,MUC4:NM_001322468:exon5:c.C4359G:p.H1453Q	.	710	796	14	0	2	16	0.00871731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00363305237974	.	.	0.0014	0	0	0	0	0	0	0.0046	.	.	.	rs57046814	0.0019	0.0037	0.0020	0.0018	0.0087	0.0018	0.0018	0.0071	0.0065	0.0087	0.0012	0.0017	6.356e-05	0.0016	0.0079	0.0020	0.0023	0.0015	0.0002	0.0057	9.948e-05	0.0002	0.0013	4.372e-05	2.283e-05	0.0003	0.0002	0	0	0.0013	0	0	0	0	0	0	0	0.305	0.14256	T	0.112	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.30133	T	-0.27	0.11366	N	0.142	0.14196	-1.0523	0.13763	T	0.066	0.27295	T	7	0.0057269335	0.00128	T	0.003633	0.08340	T	0.025	0.05312	0.15	0.05339	0.0138822411134	0.00435	8.992485504540269E-6	0.00000	.	.	0.485468327999	0.36811	T	.	.	.	-0.331498	0.05999	T	-0.71395	0.05094	T	0.0145037450175766	0.00295	T	0.533947	0.17813	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32922	B	.;.	.;.	0.674190	0.10428	7.148	0.63466496127463778	0.07231	0.00650	0.02830	N	AEFI	0.046351	0.07686	N	-0.719788524630985	0.15466	0.7796622	-0.990312119972928	0.10002	0.5010382	1.30833915264134E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.013000	0.13206	-0.742000	0.07615	0.167000	0.17740	0.003000	0.16062	0.000000	0.08366	0.008000	0.08271	1.0E-4:0.0:0.6164:0.3835	4.290	0.10320	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	99.34	13	chr3	195787221	.	G	C	99.34	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.2;DP=134;ExcessHet=0.8432;FS=7.731;InbreedingCoeff=-0.2142;MLEAC=1;MLEAF=0.056;MQ=37.38;MQRankSum=0.728;QD=2.07;ReadPosRankSum=-2.189;SOR=2.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,3:10:99:0|1:195787173_C_A:110,0,164:195787173	8	0	1	1
chr3	195787221	195787221	G	0	exonic	MUC4	.	.	.	.	710	796	14	0	2	16	0.00871731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	99.34	13	chr3	195787221	.	G	*	99.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.2;DP=134;ExcessHet=0.8432;FS=7.731;InbreedingCoeff=-0.2142;MLEAC=2;MLEAF=0.111;MQ=37.38;MQRankSum=0.728;QD=2.07;ReadPosRankSum=-2.189;SOR=2.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:7,0:10:99:0|1:195787173_C_A:110,126,299:195787173	7	0	2	1
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	59.2	9	chr3	195787234	.	G	*	59.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.645;DP=119;ExcessHet=0.2633;FS=34.42;InbreedingCoeff=-0.1477;MLEAC=1;MLEAF=0.056;MQ=40;MQRankSum=0;QD=2.11;ReadPosRankSum=-1.645;SOR=2.938	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:12:.:.:0,12,180:.	8	0	1	1
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	779.46	9	chr3	195787238	.	C	*	779.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.49;DP=113;ExcessHet=0.0197;FS=41.047;InbreedingCoeff=0.2487;MLEAC=1;MLEAF=0.071;MQ=37.65;MQRankSum=0.693;QD=14.71;ReadPosRankSum=1.35;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:9:.:.:0,9,135:.	6	0	1	3
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	858.23	11	chr3	195787273	.	T	*	858.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.271;DP=144;ExcessHet=0.0197;FS=36.841;InbreedingCoeff=0.2358;MLEAC=1;MLEAF=0.071;MQ=38.21;MQRankSum=1.28;QD=12.81;ReadPosRankSum=1.02;SOR=0.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,327:.	6	0	1	3
chr3	195787579	195787579	-	T	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.4000_4001insA:p.P1334Hfs*8,MUC4:NM_001322468:exon4:c.4000_4001insA:p.D1334Efs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.19e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1207.13	3	chr3	195787579	.	G	GT	1207.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=745;ExcessHet=0.0952;FS=7.978;InbreedingCoeff=0.3407;MLEAC=1;MLEAF=0.05;MQ=49.95;MQRankSum=0.967;QD=2.23;ReadPosRankSum=-0.967;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	9	0	1	0
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1207.13	3	chr3	195787579	.	G	*	1207.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.431;DP=745;ExcessHet=0.0952;FS=7.978;InbreedingCoeff=0.3407;MLEAC=4;MLEAF=0.2;MQ=49.95;MQRankSum=0.967;QD=2.23;ReadPosRankSum=-0.967;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	7	1	2	0
chr3	195787581	195787581	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3999A:p.S1333R,MUC4:NM_001322468:exon4:c.C3999A:p.S1333R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00110280102791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.677e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.17	0.09627	N	0.198	0.21839	-1.0141	0.25625	T	0.036	0.15465	T	8	0.0774422	0.12223	T	0.001103	0.01312	T	0.015	0.02232	0.21	0.12781	0.0138822411134	0.00435	4.4130657041117525E-4	0.00040	.	.	0.462559700012	0.33662	T	.	.	.	-0.298795	0.08773	T	-0.666975	0.07803	T	0.150897771120071	0.17175	T	0.790621	0.43132	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68118	P	.;.	.;.	1.242694	0.16388	12.51	0.75544770927572757	0.11116	0.00436	0.02133	N	AEFI	0.059611	0.11271	N	-1.18801605713749	0.05181	0.2355576	-1.29824619942719	0.04454	0.2101604	1.17149535638799E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.312	0.312	0.15082	-0.698000	0.05194	-2.483000	0.03699	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4559:0.544:1.0E-4	4.075	0.09376	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	59.43	3	chr3	195787581	.	G	T	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=741;ExcessHet=0.2065;FS=4.68;InbreedingCoeff=0.2001;MLEAC=1;MLEAF=0.05;MQ=34.84;MQRankSum=0.967;QD=0.12;ReadPosRankSum=-0.967;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	9	0	1	0
chr3	195787581	195787581	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	59.43	3	chr3	195787581	.	G	*	59.43	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.967;DP=741;ExcessHet=0.2065;FS=4.68;InbreedingCoeff=0.2001;MLEAC=4;MLEAF=0.2;MQ=34.84;MQRankSum=0.967;QD=0.12;ReadPosRankSum=-0.967;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	7	1	2	0
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1013.42	34	chr3	195787584	.	A	*	1013.42	.	AC=4;AF=0.222;AN=18;DP=772;ExcessHet=0.0197;FS=7.978;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=51.31;QD=1.89;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	6	1	2	1
chr3	195787599	195787601	CAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3979_3981del:p.M1327del,MUC4:NM_001322468:exon4:c.3979_3981del:p.A1327_A4615delinsSSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1355836000	0.0028	0.0097	0.0026	0.0030	0.0064	0.0027	0.0026	0.0058	0.0056	0.0041	0.0014	0.0050	0.0059	0.0033	0.0007	0.0022	0.0031	0.0064	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	382.1	14	chr3	195787598	.	GCAT	G	382.1	.	AC=2;AF=0.1;AN=20;DP=738;ExcessHet=0.0135;FS=5.722;InbreedingCoeff=0.5208;MLEAC=2;MLEAF=0.1;MQ=44.27;QD=0.73;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	9	1	0	0
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	382.1	14	chr3	195787598	.	GCAT	*	382.1	.	AC=4;AF=0.2;AN=20;DP=738;ExcessHet=0.0135;FS=5.722;InbreedingCoeff=0.5208;MLEAC=4;MLEAF=0.2;MQ=44.27;QD=0.73;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	7	1	2	0
chr3	195787606	195787606	T	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A3974T:p.D1325V,MUC4:NM_001322468:exon4:c.A3974T:p.D1325V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000655979915957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.629e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.38	0.34253	T	-0.3	0.11913	N	0.123	0.17966	-1.0518	0.13899	T	0.035	0.14900	T	8	0.093527794	0.16559	T	6.56E-4	0.00350	T	0.013	0.01715	0.28	0.23483	0.0297737177859	0.01360	0.001541378116443626	0.00142	.	.	0.48179396987	0.36304	T	.	.	.	-0.289584	0.09678	T	-0.653744	0.08694	T	0.0826538188049675	0.10323	T	0.857114	0.54640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46881	B	.;.	.;.	1.459843	0.18824	13.94	0.59291013908831258	0.06190	0.00314	0.01657	N	AEFI	0.054323	0.09869	N	-1.11385691208119	0.06395	0.2942896	-1.29352653674177	0.04517	0.2132571	1.2593949137403E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-1.272000	0.02933	-8.260000	0.01000	0.060000	0.17535	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.3267:0.3426:0.3306	2.146	0.03555	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	154.17	3	chr3	195787606	.	T	A	154.17	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=336;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=33.79;MQRankSum=0;QD=30.83;ReadPosRankSum=0.967;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1250:.	8	0	1	1
chr3	195788016	195788016	-	GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.S1189_P1190insLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTS,MUC4:NM_001322468:exon4:c.3563_3564insCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGATGCTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTGCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCAC:p.G1189_A4615delinsSLSSVSTGDTTPLLVTDASSASTGQATPLPVTSPSSASTGDTTPLPVTGHTTPLPVTDTSSASTGHATSLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASTGDTTPLPVTDTSSASTGQDTPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSASTGQATPLPVTGPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHTTSLHVTSPSSASTGHATSLPVTDTSSVSTGHATPLHVTSPSSASTGDTTPLPVTDTYSASTGQATPLPVTDTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVFTGHATSLPVTIPSSASSGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPDTDTSSASTGHATPLPVTDTSSASTGHATLLPVTDTSSASIGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHANPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGQATALPVTSTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGHATPLHVTSPSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSASTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPLTSLSSVSTGDTTTLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	584	914	19	4	1	28	0.0145553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0621	0.0037	0	0.0008	0.0019	0	0	.	.	.	.	0.0004	0.0015	0.0005	0.0003	0.0049	0.0003	0.0003	0.0038	0.0034	0.0049	0.0004	0.0012	0	0.0002	0.0013	0.0003	0.0010	7.675e-05	2.706e-05	0.0006	0	5.548e-05	.	0	0	.	.	0	0	0	0.0009	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4260.43	99	chr3	195788016	.	A	AGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGCAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCATCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG	4260.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.458;DP=765;ExcessHet=0.3476;FS=31.766;InbreedingCoeff=0.092;MLEAC=2;MLEAF=0.143;MQ=37.93;MQRankSum=1.79;QD=17.68;ReadPosRankSum=-8.864;SOR=3.387	GT:AD:DP:GQ:PL	0/1:68,61:129:99:2355,0,1796	5	0	2	3
chr3	195788180	195788180	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G3400A:p.A1134T,MUC4:NM_001322468:exon4:c.G3400A:p.A1134T	.	470	951	19	0	82	101	0.00989068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000	.	.	0.000998403	0.0111	0.0095	0.0213	0.0462	0.0024	0.0159	0	0.0060	0.0014295	221	154602	rs79645763	0.0003	0.0059	0.0003	0.0003	0.0027	0.0003	0.0003	0.0021	0.0019	0.0006	0.0004	0.0007	0.0027	0.0011	0.0005	0.0002	0.0006	8.487e-05	0.0038	0.0092	0.0037	0.0038	0.0071	0.0034	0.0033	0.0044	0.0035	0.0032	0.0082	0.0020	0.0037	0.0071	0.0066	0	0.0040	0.0042	0.0024	0.788	0.03218	T	0.072	0.43344	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.049	0.05670	-1.0145	0.25497	T	0.033	0.14203	T	8	0.00656271	0.00149	T	.	.	.	0.000	0.00003	.	.	0.0138822411134	0.00435	0.003076283846689497	0.00286	.	.	0.321211725473	0.13606	T	.	.	.	-0.369551	0.03617	T	-0.768611	0.02814	T	0.00730006613025309	0.00084	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.06114	B	.;.	.;.	0.065437	0.04751	1.376	0.90268847605123925	0.19538	0.00053	0.00405	N	AEFBI	0.030727	0.03149	N	-1.33967753435907	0.03233	0.1440755	-1.46984832069324	0.02595	0.1196181	1.98884394019904E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.814	-1.63	0.07900	-4.258000	0.00301	-0.347000	0.09772	-1.291000	0.01255	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.2638:0.3161:0.0:0.4201	1.939	0.03140	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004065	0.010989	0.005597	0.000000	0.000000	0.000000	0.003968	0.000000	0.1	200.14	182	chr3	195788180	.	C	T	200.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.14;DP=3127;ExcessHet=0.2348;FS=52.072;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.08;MQRankSum=-7.094;QD=0.58;ReadPosRankSum=-1.241;SOR=4.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:569,0:569:99:.:.:0,120,1800:.	8	0	2	0
chr3	195788183	195788183	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3397G:p.H1133D,MUC4:NM_001322468:exon4:c.C3397G:p.H1133D	.	458	976	6	0	82	88	0.00306435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0072	0.0052	0.0132	0.0269	0.0018	0.0104	0	0.0043	0.000925	143	154602	rs755264800	0.0001	0.0050	0.0001	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0003	0.0001	0.0002	0.0011	0.0005	0.0003	0.0001	0.0002	1.356e-05	0.0015	0.0045	0.0014	0.0015	0.0025	0.0013	0.0012	0.0015	0.0014	0.0007	0.0028	0.0010	0.0014	0.0025	0.0027	0	0.0018	0.0034	0.0008	1.0	0.00964	T	0.488	0.11691	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.58	0.29085	T	-0.3	0.11913	N	0.172	0.27197	-1.0240	0.22410	T	0.035	0.14987	T	8	0.004650831	0.00097	T	.	.	.	0.027	0.05988	0.212	0.13066	0.0138822411134	0.00435	0.012443506741045308	0.01203	.	.	0.346953630447	0.17472	T	.	.	.	-0.378935	0.03164	T	-0.782091	0.02391	T	0.0449845124125565	0.04599	T	0.531447	0.17660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14797	B	.;.	.;.	1.334099	0.17395	13.14	0.75021871002754792	0.10915	0.00019	0.00214	N	AEFBI	0.020795	0.00858	N	-1.2886627646921	0.03810	0.1709067	-1.45455562657595	0.02729	0.1260527	1.89401554455299E-5	0.02871	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.706	-1.41	0.08473	-1.345000	0.02744	0.000000	0.13247	-1.834000	0.00587	0.000000	0.06391	0.003000	0.18671	0.006000	0.07323	0.2873:0.4226:0.2901:0.0	2.842	0.05193	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	47.21	190	chr3	195788183	.	G	C	47.21	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.37;DP=3174;ExcessHet=0.2348;FS=68.239;InbreedingCoeff=-0.0844;MLEAC=1;MLEAF=0.05;MQ=56.46;MQRankSum=-6.831;QD=0.13;ReadPosRankSum=-1.724;SOR=6.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:569,0:569:99:.:.:0,120,1800:.	8	0	2	0
chr3	195791035	195791035	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C545T:p.T182I,MUC4:NM_001322468:exon3:c.C545T:p.T182I	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00232710877315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266391701	1.368e-06	1.368e-06	0	2.751e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.049	0.48336	D	.	.	.	.	.	.	0.712198	0.10004	U	0.804352	1	0.08975	N	.	.	.	1.18	0.37746	T	-0.6	0.17834	N	0.097	0.07811	-1.0008	0.29688	T	0.061	0.25383	T	10	0.06654143	0.09142	T	0.002327	0.04507	T	0.021	0.04004	.	.	0.0138822411134	0.00435	0.042282418963728	0.04173	.	.	0.219919115305	0.01305	T	.	.	.	-0.241908	0.15107	T	-0.58526	0.14079	T	0.042849198656557	0.04211	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.46037	B	.;.	.;.	0.797873	0.11683	8.266	0.66498986399030935	0.08077	0.06103	0.12079	N	AEFDBHCI	0.061181	0.11677	N	-1.09572050865767	0.06721	0.3102392	-1.16493783061915	0.06504	0.3132772	0.00414696587334818	0.10434	0.554377	0.28877	0	0.187218	0.04217	2	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.56	0.752	0.17546	-0.051000	0.11840	-1.370000	0.05600	0.462000	0.21616	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1105:0.19:0.5036:0.1958	2.348	0.04015	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2851.43	182	chr3	195791035	.	G	A	2851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.543;DP=1722;ExcessHet=0;FS=2.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.311;SOR=0.589	GT:AD:DP:GQ:PL	0/0:199,0:199:99:0,120,1800	9	0	1	0
chr3	195868341	195868341	C	T	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.G2008A:p.V670M,TNK2:NM_001382271:exon12:c.G2008A:p.V670M,TNK2:NM_005781:exon12:c.G1912A:p.V638M,TNK2:NM_001010938:exon13:c.G2029A:p.V677M,TNK2:NM_001382272:exon13:c.G2029A:p.V677M,TNK2:NM_001382273:exon13:c.G1957A:p.V653M,TNK2:NM_001382274:exon13:c.G1957A:p.V653M,TNK2:NM_001382275:exon13:c.G2053A:p.V685M	.	422	1076	20	4	0	28	0.012844	.	.	.	94418	Parkinson_disease|Autosomal_recessive_infantile_epilepsy|TNK2-related_disorder|not_provided|Infantile_epilepsy	MONDO:MONDO:0005180,MeSH:D010300,MedGen:C0030567,OMIM:PS168600,Orphanet:319705|MedGen:CN183915|.|MedGen:C3661900|MedGen:CN228296	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.0006	0.00259585	0.0026	0.0006	0.0005	0.0002	0.0002	0.0011	0	0.0131	0.0020957	324	154602	rs201407161	0.0018	0.0018	0.0015	0.0021	0.0127	0.0017	0.0017	0.0120	0.0118	0.0004	0.0004	0.0042	5.051e-05	0	0.0047	0.0011	0.0019	0.0127	0.0012	0.0012	0.0010	0.0015	0.0158	0.0011	0.0010	0.0129	0.0119	0.0003	0	0.0005	0.0038	0.0004	0	0.0068	0.0011	0	0.0158	0.008	0.91255	D	0.073	0.69154	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999986	0.58761	D	1.83	0.48079	L	0.88	0.46028	T	-1.2	0.39503	N	0.629	0.69125	-0.7690	0.56912	T	0.196	0.55056	T	10	0.0081579685	0.00185	T	.	.	.	0.176	0.44373	.	.	0.854392572695	0.85299	0.3547871407071696	0.35392	0.0339664126179	0.03563	0.844016313553	0.88707	D	0.085562	0.49683	T	-0.351641	0.04624	T	-0.266854	0.48137	T	0.0236500075346051	0.01102	T	0.982402	0.94055	D	0.3188963	0.54547	0.3603234	0.61476	0.3188963	0.54547	0.3603234	0.61475	-9.791	0.72650	D	.	.	0.606	0.71047	P	.;.;.;.	.;.;.;.	4.594960	0.72715	25.9	0.99885676477360807	0.96049	0.98998	0.89743	D	AEFDBI	0.879804	0.80600	D	0.642321751471934	0.75873	6.383469	0.649361750741026	0.78564	6.901514	0.999999999993842	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.53	5.53	0.82530	4.628000	0.60981	5.947000	0.51581	0.547000	0.25779	1.000000	0.71638	1.000000	0.68203	0.627000	0.32078	0.0:1.0:0.0:0.0	18.017	0.89169	884	0.28482	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.000000	0.001359	0.008772	0.050000	0.025862	0.003067	0.018939	0.05	1942.43	73	chr3	195868341	.	C	T	1942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=550;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-2.531;SOR=0.825	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1068	9	0	1	0
chr3	196210699	196210699	G	A	exonic	ZDHHC19	.	nonsynonymous SNV	ZDHHC19:NM_001039617:exon2:c.C185T:p.P62L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0242188569211	0.0004	.	0.0004	0.0001	0.0002	0	0	0.0007	0	0.0001	0.0003687	57	154602	rs200139256	0.0004	0.0004	0.0004	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	5.975e-05	0.0003	0	0	1.874e-05	0.0017	0.0005	0.0005	0.0002	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0005	0.0004	7.218e-05	0.0011	6.539e-05	0	0	0	0	0.0006	0.0009	0.0004	0.001	0.78490	D	0.009	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000119	0.50451	D	0.000000	0.999386	0.46865	D	1.87	0.49600	L	1.36	0.34452	T	-9.08	0.98168	D	0.635	0.64818	-0.6849	0.61146	T	0.215	0.57666	T	10	0.5340236	0.63345	D	0.024219	0.47205	T	0.289	0.60808	.	.	0.214338557667	0.21045	0.7738208668794585	0.77332	0.774179064744	0.64939	0.41771236062	0.27523	T	0.067206	0.33142	T	-0.1006	0.36324	T	-0.0123677	0.69530	D	0.9484983086586	0.62908	D	0.79842	0.44325	T	0.6491264	0.75317	0.69670916	0.82140	0.6491264	0.75318	0.69670916	0.82141	-9.566	0.71269	D	.	.	0.159	0.35098	B	.	.	3.441275	0.47869	22.5	0.99781254747622816	0.86780	0.75675	0.37064	D	AEFDGBHCI	0.347666	0.44206	N	0.428261275889494	0.62980	4.523413	0.305968444890332	0.55890	3.751845	0.999991538212703	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.07	5.07	0.68106	3.699000	0.54511	3.461000	0.38514	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.335000	0.25317	0.0:0.0:1.0:0.0	13.968	0.63736	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1625.43	33	chr3	196210699	.	G	A	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.377;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.189;SOR=0.639	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr3	196507926	196507926	C	G	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.G606C:p.K202N,SMCO1:NM_001320473:exon3:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00877418908573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.015	0.61642	D	0.013	0.16609	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	2.08	0.57402	M	1.24	0.36691	T	-1.12	0.28906	N	0.079	0.05414	-1.0108	0.26666	T	0.058	0.24242	T	9	0.047096103	0.03983	T	0.008774	0.23147	T	0.023	0.04649	0.164	0.06842	0.0138822411134	0.00435	0.20728923989480802	0.20644	0.528087257865	0.50404	.	.	.	0.003477	0.02879	T	-0.314814	0.07331	T	-0.689985	0.06390	T	0.0872446450534691	0.10887	T	0.533547	0.17787	T	0.08555294	0.19849	0.052744295	0.08750	0.08555294	0.19849	0.052744295	0.08749	-4.211	0.26910	T	.	.	0.155	0.34250	B	.	.	1.550431	0.19873	14.48	0.96806374476206325	0.31169	0.16733	0.19524	N	AEFBI	0.089788	0.18199	N	-1.01349725025131	0.08324	0.3898524	-1.02558647015077	0.09224	0.4577065	0.999678348721456	0.41644	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	1.55	0.22356	0.124000	0.15557	-0.101000	0.11941	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.200000	0.21896	0.2795:0.4827:0.0:0.2378	3.955	0.08880	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1613.43	142	chr3	196507926	.	C	G	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.239;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.329;SOR=0.726	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,966	9	0	1	0
chr3	196660764	196660764	C	G	exonic	NRROS	.	nonsynonymous SNV	NRROS:NM_198565:exon3:c.C1121G:p.P374R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0222245998074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.20759	T	0.412	0.14456	T	0.896	0.49324	P	0.776	0.57120	P	0.000438	0.44522	D	0.240807	1	0.08975	N	.	.	.	0.45	0.56446	T	-1.79	0.42191	N	0.557	0.58202	-1.0461	0.15505	T	0.106	0.38685	T	10	0.5353746	0.63417	D	0.022225	0.45097	T	0.206	0.49396	0.345	0.33950	0.437634105008	0.43384	0.5129391813555176	0.51215	1.12298111815	0.78345	0.362796187401	0.19792	T	0.058101	0.30750	T	-0.0780772	0.40026	T	-0.349929	0.39213	T	0.510681331157684	0.33022	D	0.739826	0.35853	T	0.04607111	0.07647	0.05877479	0.10917	0.04607111	0.07647	0.05877479	0.10917	-3.592	0.17742	T	0.42938692015687135	0.51678	0.398	0.59488	A	.	.	3.554982	0.49988	22.9	0.99441359451645728	0.64770	0.76300	0.37410	D	AEFDBCI	0.348578	0.44266	N	-0.122578489078968	0.36411	2.104231	-0.0707609257816035	0.36605	2.132397	0.999999914722368	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	6.17	4.41	0.52588	2.493000	0.44979	4.886000	0.45715	-0.176000	0.10722	0.953000	0.33222	1.000000	0.68203	0.180000	0.21296	0.1207:0.5685:0.1169:0.1939	3.377	0.06819	501	0.75956	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2537.43	49	chr3	196660764	.	C	G	2537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.546;DP=638;ExcessHet=0;FS=6.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=2.23;SOR=0.405	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr3	196886088	196886088	C	T	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.C907T:p.H303Y,SENP5:NM_152699:exon2:c.C907T:p.H303Y	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0055	0.00239617	0.0057	0.0011	0.0029	0	0.0014	0.0086	0.0055	0.0036	0.005595	865	154602	rs151102982	0.0057	0.0057	0.0057	0.0058	0.0144	0.0056	0.0056	0.0119	0.0110	0.0010	0.0046	0.0344	2.519e-05	0.0021	0.0144	0.0057	0.0063	0.0035	0.0053	0.0053	0.0055	0.0050	0.0062	0.0050	0.0048	0.0058	0.0056	0.0011	0.0713	0.0053	0.0360	0	0.0018	0.0136	0.0062	0.0085	0.0041	0.042	0.44358	D	0.398	0.15746	T	0.167	0.28604	B	0.04	0.23831	B	0.068702	0.21654	N	0.432451	1	0.81001	D	1.61	0.41143	L	1.37	0.34253	T	-0.92	0.25551	N	0.309	0.34874	-1.0706	0.09282	T	0.029	0.12673	T	10	0.0035499334	0.00064	T	.	.	.	0.055	0.15663	.	.	0.147330786459	0.14319	0.07654943486015639	0.07590	0.21552537	0.24085	0.307926267385	0.11594	T	0.008107	0.07462	T	-0.476606	0.00775	T	-0.453663	0.27293	T	0.0100612664167618	0.00135	T	0.716128	0.32863	T	0.07624217	0.17231	0.07669731	0.17011	0.07624217	0.17231	0.07669731	0.17011	-4.136	0.25819	T	.	.	0.09	0.12607	B	.;.	.;.	2.062754	0.26225	17.04	0.99077901006632374	0.51882	0.51476	0.28904	D	AEFBCI	0.103206	0.20683	N	-0.368203577258762	0.26609	1.453498	-0.238555164470753	0.30168	1.696263	0.999997713252263	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	2.051000	0.40932	3.367000	0.37903	0.599000	0.40250	0.505000	0.26994	0.263000	0.23997	0.910000	0.44547	0.0:0.9096:0.0:0.0904	11.261	0.48315	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.012228	0.005848	0.000000	0.008621	0.009146	0.011364	0.05	1778.43	33	chr3	196886088	.	C	T	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=432;ExcessHet=0;FS=6.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.372;SOR=1.244	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1024	9	0	1	0
chr3	196886230	196886230	G	A	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.G1049A:p.G350D,SENP5:NM_152699:exon2:c.G1049A:p.G350D	.	429	1046	46	1	0	48	0.0224299	.	.	.	698002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0032	0.00339457	0.0053	0.0009	0.0016	0	0.0021	0.0048	0.0088	0.0165	0.0049999	773	154602	rs34326043	0.0052	0.0052	0.0049	0.0056	0.0177	0.0051	0.0051	0.0169	0.0166	0.0008	0.0017	0.0050	0	0.0032	0.0083	0.0048	0.0051	0.0177	0.0032	0.0032	0.0032	0.0032	0.0135	0.0029	0.0028	0.0108	0.0099	0.0008	0	0.0027	0.0063	0.0002	0.0013	0.0034	0.0043	0.0052	0.0135	0.001	0.78490	D	0.006	0.70582	D	0.986	0.61523	D	0.674	0.53247	P	0.041470	0.23946	N	0.433434	0.999835	0.81001	D	2.215	0.62545	M	1.33	0.35031	T	-0.81	0.25551	N	0.795	0.79118	-0.9580	0.39552	T	0.135	0.44914	T	10	0.005043119	0.00109	T	.	.	.	0.176	0.44373	.	.	0.525266285433	0.52174	0.28638960740791314	0.28551	0.641594467787	0.57746	0.427772462368	0.28904	T	0.009012	0.08229	T	-0.104752	0.35636	T	0.0897279	0.76226	D	0.0123640726748312	0.00202	T	0.868713	0.57175	D	0.35352296	0.57340	0.3804287	0.63075	0.35352296	0.57340	0.3804287	0.63075	-3.584	0.18641	T	.	.	0.223	0.45446	B	.;.	.;.	3.994106	0.58801	24.0	0.99785734057949749	0.87219	0.95368	0.64448	D	AEFDBCI	0.539764	0.55661	D	0.558107321876487	0.70576	5.522001	0.599793899831518	0.74926	6.220836	0.999999997546957	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.489000	0.60035	9.937000	0.82626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.055	0.71577	600	0.68026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.020202	0.001359	0.002924	0.000000	0.008621	0.012195	0.007576	0.05	1523.43	33	chr3	196886230	.	G	A	1523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.612;DP=478;ExcessHet=0;FS=3.749;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=1.61;SOR=0.764	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1024	9	0	1	0
chr3	196948448	196948448	G	A	exonic	PIGZ	.	nonsynonymous SNV	PIGZ:NM_025163:exon3:c.C449T:p.P150L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0002	0.00798722	0.0027	0.0001	0.0002	0.0220	0	4.624e-05	0	0.0075	0.0025161	389	154602	rs75314175	0.0013	0.0013	0.0012	0.0015	0.0278	0.0013	0.0013	0.0264	0.0259	8.961e-05	0.0002	0	0.0278	0	0.0005	7.914e-05	0.0016	0.0075	0.0012	0.0013	0.0011	0.0014	0.0247	0.0011	0.0010	0.0212	0.0199	0.0002	0	0.0007	0	0.0247	0	0	0.0001	0.0009	0.0072	0.966	0.02070	T	0.769	0.04492	T	0.0	0.02946	B	0.001	0.04355	B	0.263799	0.15262	N	0.534734	1	0.18612	N	-2.075	0.00166	N	0.18	0.60361	T	2.04	0.00388	N	0.044	0.01658	-1.0008	0.29688	T	0.013	0.05129	T	10	0.002756685	0.00043	T	.	.	.	0.061	0.17616	.	.	0.362361684037	0.35846	0.11748832415957511	0.11676	0.127361370349	0.14354	0.301235377789	0.10584	T	0.001209	0.00701	T	-0.643389	0.00079	T	-0.682024	0.06860	T	0.00767491012867851	0.00089	T	0.121488	0.00940	T	0.026495904	0.01714	0.03658137	0.03134	0.026495904	0.01713	0.03658137	0.03134	-1.702	0.02234	T	.	.	0.057	0.00563	B	.	.	-0.406378	0.02190	0.216	0.81154015780439503	0.13545	0.03598	0.08824	N	AEFDGBHCI	.	.	.	-1.70104703746559	0.00838	0.03624282	-1.65807512292433	0.01334	0.06023607	0.999999999982899	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	5.25	-4.74	0.03013	-0.343000	0.07838	0.747000	0.21206	-0.051000	0.17024	0.000000	0.06391	0.001000	0.17328	0.274000	0.23868	0.2346:0.541:0.1245:0.0999	5.876	0.18076	650	0.62973	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2050.43	50	chr3	196948448	.	G	A	2050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.529;DP=561;ExcessHet=0;FS=1.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.05;SOR=0.802	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr3	197017123	197017123	G	A	exonic	MELTF	.	nonsynonymous SNV	MELTF:NM_005929:exon7:c.C880T:p.R294W	.	411	1087	24	0	0	24	0.010919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	0.0018	0.0283546	0.0208	0.0013	0.0509	0.0581	0.0005	0.0024	0.0198	0.0754	0.0156854	2425	154602	rs2276790	0.0078	0.0079	0.0063	0.0093	0.0634	0.0077	0.0077	0.0620	0.0614	0.0010	0.0336	0.0112	0.0504	0.0003	0.0029	0.0014	0.0102	0.0634	0.0071	0.0071	0.0062	0.0080	0.0615	0.0067	0.0066	0.0558	0.0535	0.0014	0	0.0176	0.0133	0.0567	0.0003	0.0034	0.0013	0.0109	0.0615	0.006	0.61437	D	0.008	0.67890	D	0.998	0.73220	D	0.809	0.58564	P	0.017625	0.27675	N	0.419477	0.997883	0.22461	N	2.495	0.72670	M	2.47	0.14783	T	-3.89	0.72820	D	0.388	0.42931	-1.1619	0.00712	T	0.014	0.05369	T	10	0.0073421896	0.00167	T	.	.	.	0.230	0.53062	.	.	.	.	0.6055100167337348	0.60482	0.69199338216	0.60632	0.250929236412	0.03866	T	0.18354	0.53591	T	-0.473058	0.00814	T	-0.404397	0.32872	T	0.0268563781333905	0.01524	T	0.89971	0.64861	D	0.48027325	0.65917	0.4018112	0.64681	0.48027325	0.65918	0.4018112	0.64681	-8.093	0.61703	D	.	.	0.093	0.13830	B	.	.	4.998958	0.82931	27.9	0.99926407414701635	0.99103	0.89370	0.49794	D	AEFBCI	0.847238	0.76409	D	0.512766042721571	0.67842	5.13614	0.480715062957765	0.66714	4.988075	0.0814494892959752	0.15873	0.634777	0.41761	0	0.643519	0.57511	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.69	4.81	0.61401	1.325000	0.33330	7.498000	0.59452	0.676000	0.76740	0.906000	0.31575	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.704:0.296	12.890	0.57461	677	0.60274	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010101	0.000000	0.000000	0.002924	0.050000	0.000000	0.015337	0.030303	0.05	1354.43	34	chr3	197017123	.	G	A	1354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=429;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=1.85;SOR=0.951	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	9	0	1	0
chr3	197138351	197138351	G	A	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon5:c.C505T:p.R169C,DLG1:NM_001204388:exon5:c.C505T:p.R169C,DLG1:NM_001366221:exon6:c.C604T:p.R202C,DLG1:NM_001366222:exon6:c.C604T:p.R202C,DLG1:NM_001366203:exon8:c.C700T:p.R234C,DLG1:NM_001366206:exon8:c.C700T:p.R234C,DLG1:NM_001366216:exon8:c.C700T:p.R234C,DLG1:NM_001366219:exon8:c.C700T:p.R234C,DLG1:NM_001366220:exon8:c.C700T:p.R234C,DLG1:NM_001204386:exon9:c.C754T:p.R252C,DLG1:NM_001363865:exon9:c.C754T:p.R252C,DLG1:NM_001366204:exon9:c.C754T:p.R252C,DLG1:NM_001366205:exon9:c.C754T:p.R252C,DLG1:NM_001366207:exon9:c.C754T:p.R252C,DLG1:NM_001366208:exon9:c.C754T:p.R252C,DLG1:NM_001366209:exon9:c.C754T:p.R252C,DLG1:NM_001366210:exon9:c.C754T:p.R252C,DLG1:NM_001366211:exon9:c.C754T:p.R252C,DLG1:NM_001366212:exon9:c.C754T:p.R252C,DLG1:NM_001366213:exon9:c.C754T:p.R252C,DLG1:NM_001366215:exon9:c.C754T:p.R252C,DLG1:NM_001366217:exon9:c.C754T:p.R252C,DLG1:NM_001098424:exon10:c.C853T:p.R285C,DLG1:NM_001290983:exon10:c.C853T:p.R285C,DLG1:NM_001366214:exon10:c.C853T:p.R285C,DLG1:NM_001366218:exon10:c.C853T:p.R285C,DLG1:NM_004087:exon10:c.C853T:p.R285C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.0176077457718	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452989685	6.368e-06	1.368e-05	2.815e-06	9.961e-06	3.064e-05	3e-06	2.17e-06	7.4e-07	2.1e-07	3.064e-05	0	0	0	1.954e-05	0	2.772e-06	5.187e-05	1.279e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.41637	D	0.094	0.45744	T	1.0	0.90584	D	0.969	0.77976	D	0.000124	0.49741	D	0.125962	0.99951	0.50595	D	2.065	0.56745	M	1.55	0.29866	T	-2.13	0.65742	N	0.361	0.40264	-0.8795	0.49801	T	0.169	0.50955	T	10	0.35114017	0.51970	T	0.017608	0.39377	T	0.224	0.52174	0.59	0.71874	0.486257639955	0.48257	0.7101232086190812	0.70954	0.432107496009	0.43392	0.611832678318	0.54576	T	0.317621	0.68906	T	0.000516878	0.51727	T	-0.237034	0.51089	T	0.615574836730957	0.37025	D	0.820918	0.48145	T	0.19974653	0.41925	0.26910248	0.52787	0.19974653	0.41925	0.26910248	0.52786	-7.294	0.58750	T	.	.	0.095	0.19639	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.028720	0.59562	24.1	0.99939556417491204	0.99734	0.37672	0.25814	N	AEFBI	0.266975	0.38378	N	0.336825589036002	0.58048	3.974897	0.310481963664044	0.56155	3.778482	0.999998449265742	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.31	5.31	0.75063	0.919000	0.28312	6.635000	0.56164	-0.103000	0.15852	0.002000	0.15269	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	18.317	0.90163	912	0.21483	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	897.43	42	chr3	197138351	.	G	A	897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.14;DP=376;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.789;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1268:.	9	0	1	0
chr3	197142732	197142732	T	C	exonic	DLG1	.	nonsynonymous SNV	DLG1:NM_001204387:exon3:c.A325G:p.I109V,DLG1:NM_001204388:exon3:c.A325G:p.I109V,DLG1:NM_001366221:exon4:c.A424G:p.I142V,DLG1:NM_001366222:exon4:c.A424G:p.I142V,DLG1:NM_001366203:exon6:c.A520G:p.I174V,DLG1:NM_001366206:exon6:c.A520G:p.I174V,DLG1:NM_001366216:exon6:c.A520G:p.I174V,DLG1:NM_001366219:exon6:c.A520G:p.I174V,DLG1:NM_001366220:exon6:c.A520G:p.I174V,DLG1:NM_001204386:exon7:c.A574G:p.I192V,DLG1:NM_001363865:exon7:c.A574G:p.I192V,DLG1:NM_001366204:exon7:c.A574G:p.I192V,DLG1:NM_001366205:exon7:c.A574G:p.I192V,DLG1:NM_001366207:exon7:c.A574G:p.I192V,DLG1:NM_001366208:exon7:c.A574G:p.I192V,DLG1:NM_001366209:exon7:c.A574G:p.I192V,DLG1:NM_001366210:exon7:c.A574G:p.I192V,DLG1:NM_001366211:exon7:c.A574G:p.I192V,DLG1:NM_001366212:exon7:c.A574G:p.I192V,DLG1:NM_001366213:exon7:c.A574G:p.I192V,DLG1:NM_001366215:exon7:c.A574G:p.I192V,DLG1:NM_001366217:exon7:c.A574G:p.I192V,DLG1:NM_001098424:exon8:c.A673G:p.I225V,DLG1:NM_001290983:exon8:c.A673G:p.I225V,DLG1:NM_001366214:exon8:c.A673G:p.I225V,DLG1:NM_001366218:exon8:c.A673G:p.I225V,DLG1:NM_004087:exon8:c.A673G:p.I225V	.	24	1492	6	0	0	6	0.00200669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0127023113203	.	0.000199681	0.0004	0	0.0003	0	0	0.0001	0.0011	0.0025	0.0003558	55	154602	rs562094599	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0001	0.0018	0.0017	0	0.0004	3.835e-05	0	0	0.0007	3.695e-05	0.0003	0.0020	0.0001	0.0001	8.992e-05	0.0002	0.0017	9.735e-05	8.25e-05	0.0008	0.0006	0	0	0.0007	0	0	0	0	5.88e-05	0	0.0017	0.135	0.37536	T	0.177	0.43721	T	0.984	0.60733	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.15	0.08895	N	1.78	0.25678	T	-0.84	0.24676	N	0.496	0.57946	-1.0595	0.11880	T	0.080	0.31824	T	10	0.022341877	0.00555	T	0.012702	0.31501	T	0.172	0.43662	0.482	0.56302	0.373217324921	0.36936	0.3489429753305964	0.34808	0.307434405692	0.33039	0.788109838963	0.80155	T	0.256253	0.62714	T	-0.376154	0.03294	T	-0.31988	0.42587	T	0.147298677308122	0.16887	T	0.962204	0.85735	D	0.36413282	0.58149	0.26848832	0.52718	0.36413282	0.58149	0.26848832	0.52717	-7.52	0.65484	D	.	.	0.441	0.64768	A	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.967599	0.58234	24.0	0.99761908464974558	0.85172	0.98931	0.88793	D	AEFGBI	0.895224	0.83502	D	0.383524556899122	0.60530	4.24279	0.473856897549177	0.66263	4.929342	0.99999991135709	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.37	5.37	0.76949	7.674000	0.83146	6.152000	0.54210	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.840	0.69849	898	0.25240	.;PDZ domain|PDZ domain;PDZ domain|PDZ domain;.;.;PDZ domain|PDZ domain;.;.;.;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	580.43	53	chr3	197142732	.	T	C	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.848;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.387;SOR=0.627	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1030	9	0	1	0
chr4	161001	161001	C	T	exonic	ZNF718	.	nonsynonymous SNV	ZNF718:NM_001039127:exon4:c.C316T:p.R106C,ZNF718:NM_001289930:exon4:c.C220T:p.R74C,ZNF718:NM_001289931:exon4:c.C220T:p.R74C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.517e-05	0	0	0.0001	0	3.042e-05	0	0	1.94e-05	3	154602	rs368501888	1.113e-05	1.113e-05	6.988e-06	1.46e-05	0.0002	4.63e-06	2.98e-06	9.19e-06	3.44e-06	0	0	0	5.548e-05	0	0.0002	8.57e-06	0	1.433e-05	1.974e-05	1.971e-05	1.286e-05	2.695e-05	0.0004	5.25e-06	2.46e-06	6.811e-05	2.851e-05	0	0	0	0	0.0004	0	0	1.471e-05	0	0	.	.	.	0.563	0.09022	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	.	.	.	-2.77	0.00026	N	.	.	.	.	.	.	0.026	0.01911	.	.	.	.	.	.	.	0.018856376	0.00414	T	.	.	.	.	.	.	.	0.15556083564	0.15200	0.01613105926549213	0.01569	.	.	0.257985502481	0.04654	T	0.002717	0.02105	T	-0.393149	0.02566	T	-0.510359	0.21279	T	.	.	.	0.80472	0.45238	T	0.08390125	0.19395	0.055348072	0.09694	0.08390125	0.19395	0.055348072	0.09693	1.881	0.00064	T	.	.	0.090	0.17103	B	.;.	.;.	-0.766347	0.01175	0.057	0.3409630244509278	0.02067	0.00007	0.00120	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.0012824631240972	0.08410	0.156188	0.03335	0	0.084543	0.02171	0	0.231514	0.04749	0	0.092715	0.02821	0	0.0489644	0.08624	1.35	-2.7	0.05651	-0.645000	0.05506	.	.	-2.778000	0.00190	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4388:0.2021:0.3591	4.037	0.09217	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1058.43	34	chr4	161001	.	C	T	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.683;DP=404;ExcessHet=0;FS=5.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=1.43;SOR=0.49	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	9	0	1	0
chr4	271917	271917	C	T	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.G940A:p.V314I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00112685847824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	0.24	0.30857	B	0.217	0.37636	B	.	.	.	.	0.99999	0.08975	N	0.715	0.18665	N	5.45	0.00969	T	-0.97	0.25770	N	0.055	0.02658	-0.8931	0.48659	T	0.003	0.00994	T	9	0.09083226	0.15857	T	0.001127	0.01385	T	0.020	0.03691	0.438	0.49157	0.0138822411134	0.00435	0.005906396681312896	0.00559	0.00627687952972	0.00547	0.254959255457	0.04308	T	0.005594	0.05042	T	-0.347392	0.04893	T	-0.736781	0.04027	T	0.201196783072965	0.20482	T	0.209679	0.02524	T	0.1438852	0.33050	0.15218101	0.35816	0.1438852	0.33050	0.15218101	0.35815	-5.053	0.37410	T	.	.	0.109	0.21125	B	.;.	.;.	0.815448	0.11866	8.432	0.93615112921144561	0.23480	0.00006	0.00120	N	AEFBHCI	0.015563	0.00303	N	-0.914136618564497	0.10511	0.5026178	-1.04940801681556	0.08719	0.430087	2.96663301372214E-4	0.06406	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	0.977	0.977	0.18853	-3.452000	0.00519	.	.	0.310000	0.19122	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.6852:0.0:0.3148	3.331	0.06669	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1093.43	38	chr4	271917	.	C	T	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.283;SOR=0.715	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1013	9	0	1	0
chr4	441786	441786	G	A	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C2681T:p.T894M	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000986632708709	8e-05	0.000399361	5.078e-05	0.0001	0.0003	0	0	1.536e-05	0	6.096e-05	5.17e-05	8	154602	rs189742026	3.353e-05	3.352e-05	2.723e-05	3.989e-05	0.0002	2.567e-05	2.312e-05	0.0001	7.819e-05	2.987e-05	0.0002	0	0	9.381e-05	0	2.159e-05	9.938e-05	4.64e-05	9.87e-05	9.85e-05	9.009e-05	0.0001	0.0005	6.015e-05	4.886e-05	0.0003	0.0002	4.823e-05	0	0.0005	0	0	0	0	5.884e-05	0.0005	0	0.026	0.50132	D	0.005	0.72224	D	0.982	0.60036	D	0.405	0.44649	B	.	.	.	.	1	0.08975	N	0.505	0.13445	N	2.12	0.19726	T	-0.7	0.19933	N	0.16	0.27435	-1.0397	0.17404	T	0.024	0.10103	T	9	0.025401324	0.00735	T	9.87E-4	0.01050	T	0.038	0.09825	.	.	0.0666544352282	0.05500	0.013151296599355962	0.01273	0.0906231924294	0.10225	0.250473439693	0.03818	T	0.003514	0.02920	T	-0.453463	0.01077	T	-0.619845	0.11197	T	0.134329327580189	0.15776	T	0.10279	0.00763	T	0.013929081	0.00075	0.022519968	0.00275	0.013929081	0.00074	0.022519968	0.00275	-7.248	0.56841	T	.	.	0.116	0.24901	B	.;.	.;.	1.530121	0.19634	14.36	0.8588266445789664	0.16172	0.00000	0.00017	N	AEFDGBHCI	0.030486	0.03078	N	-0.772030165390018	0.14043	0.6963476	-1.00558706768107	0.09662	0.4819986	0.00768860574793358	0.11522	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	0.539	0.539	0.16348	-1.892000	0.01702	.	.	-0.631000	0.04513	0.000000	0.06391	0.000000	0.08366	0.126000	0.19410	1.0E-4:1.0E-4:0.5569:0.443	3.526	0.07317	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1698.43	35	chr4	441786	.	G	A	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.217;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1044	9	0	1	0
chr4	443059	443059	T	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.A1408G:p.K470E	.	400	1118	4	0	0	4	0.00178571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0005	0.00119808	0.0036	0.0001	0	0	0.0413	0.0020	0.0033	0.0015	0.0029366	454	154602	rs202092769	0.0019	0.0019	0.0019	0.0019	0.0019	0.0019	0.0019	0.0017	0.0016	0.0002	4.473e-05	0	0.0001	0.0373	0.0003	0.0005	0.0017	0.0019	0.0036	0.0036	0.0016	0.0057	0.0021	0.0034	0.0033	0.0011	0.0010	0.0001	0	0.0001	0	0	0.0418	0	0.0013	0.0019	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	1	0.81001	D	0.32	0.10341	N	2.66	0.12575	T	2.66	0.00198	N	0.127	0.21580	-1.0609	0.11532	T	0.017	0.07092	T	9	0.0024181008	0.00036	T	.	.	.	0.047	0.12962	.	.	0.0611884634855	0.05136	0.01298403361476462	0.01256	0.0155235919736	0.01479	0.303648233414	0.10947	T	6.68E-4	0.00291	T	-0.606698	0.00133	T	-0.648247	0.09077	T	0.0247379213808929	0.01239	T	0.0212979	0.00179	T	0.022100728	0.00851	0.036388066	0.03075	0.022100728	0.00851	0.036388066	0.03074	0.223	0.00321	T	.	.	0.079	0.07507	B	.;.	.;.	-0.862456	0.00990	0.040	0.28258469336382913	0.01442	0.00000	0.00017	N	AEFDGBHCI	0.016299	0.00359	N	-1.85917970373271	0.00416	0.01788341	-1.94209729748637	0.00403	0.01782718	0.0859225385925363	0.15995	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	0.71	-1.42	0.08446	-0.025000	0.12361	.	.	-1.643000	0.00837	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2138:0.5816:0.0:0.2045	4.429	0.10942	912	0.21483	Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001587	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1016.43	35	chr4	443059	.	T	C	1016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=408;ExcessHet=0;FS=3.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.69;MQRankSum=-0.946;QD=13.74;ReadPosRankSum=0.536;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1044	9	0	1	0
chr4	444120	444120	T	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.A347G:p.K116R	.	454	1051	15	2	0	19	0.00895804	.	.	.	2822292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0060	0.00379393	0.0061	0.0016	0.0024	0.0001	0.0064	0.0080	0.0044	0.0070	0.0061319	948	154602	rs115278773	0.0079	0.0079	0.0079	0.0079	0.0123	0.0078	0.0077	0.0100	0.0092	0.0017	0.0032	0.0012	7.559e-05	0.0063	0.0123	0.0089	0.0059	0.0077	0.0061	0.0061	0.0062	0.0061	0.0087	0.0058	0.0057	0.0081	0.0078	0.0022	0.0571	0.0044	0.0006	0	0.0065	0.0102	0.0086	0.0095	0.0087	0.079	0.37118	T	0.025	0.58613	D	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	1	0.24463	N	2.185	0.61350	M	1.33	0.35219	T	-1.94	0.52451	N	0.18	0.26957	-1.0099	0.26949	T	0.103	0.37994	T	9	0.0046679378	0.00098	T	.	.	.	0.030	0.07022	.	.	0.0401082797425	0.02173	0.009552388223749455	0.00918	0.0549770881719	0.06090	0.286051034927	0.08350	T	0.002659	0.02055	T	-0.564552	0.00238	T	-0.576609	0.14850	T	0.0119287855666207	0.00187	T	0.634537	0.44325	T	0.043829866	0.06901	0.041894507	0.04867	0.043829866	0.06901	0.041894507	0.04867	-7.901	0.60393	D	.	.	0.095	0.16843	B	.;.;.	.;.;.	1.220349	0.16140	12.34	0.78946973829931699	0.12522	0.00001	0.00044	N	AEFBCI	0.026062	0.01892	N	-1.03358638335288	0.07913	0.3692515	-1.26373053252019	0.04930	0.23377	0.00784779115160298	0.11556	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.723	-0.871	0.10103	0.787000	0.26519	.	.	0.470000	0.21925	0.118000	0.23139	0.000000	0.08366	0.002000	0.04165	0.0:0.2478:0.0:0.7522	4.232	0.10061	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.010101	0.016304	0.005848	0.050000	0.008621	0.003049	0.003788	0.05	1726.43	35	chr4	444120	.	T	C	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.852;DP=492;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.73;SOR=0.511	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1044	9	0	1	0
chr4	522167	522167	G	A	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001345989:exon9:c.G1793A:p.C598Y	Mental retardation, autosomal recessive 53, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.318e-05	1.177e-05	9.295e-06	1.666e-05	5.039e-05	4.74e-06	3.11e-06	7.13e-06	2.67e-06	0	5.039e-05	0	0	0	0	1.101e-05	0	4.299e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1610.43	35	chr4	522167	.	G	A	1610.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.583;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.63;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	9	0	1	0
chr4	530476	530476	G	C	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001289052:exon9:c.G1903C:p.G635R,PIGG:NM_001345988:exon10:c.G1273C:p.G425R,PIGG:NM_001127178:exon11:c.G2302C:p.G768R,PIGG:NM_001289051:exon11:c.G2035C:p.G679R,PIGG:NM_001345986:exon11:c.G2035C:p.G679R,PIGG:NM_001345987:exon11:c.G2011C:p.G671R,PIGG:NM_001345991:exon11:c.G769C:p.G257R,PIGG:NM_017733:exon11:c.G2278C:p.G760R,PIGG:NM_001345990:exon12:c.G769C:p.G257R,PIGG:NM_001345994:exon12:c.G1204C:p.G402R	Mental retardation, autosomal recessive 53, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	559858	Intellectual_disability,_autosomal_recessive_53	MONDO:MONDO:0014832,MedGen:C4310794,OMIM:616917,Orphanet:488635	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.465	0.0303318337821	.	.	4.943e-05	0	0	0	0	8.992e-05	0	0	4.53e-05	7	154602	rs35206248	4.242e-05	4.241e-05	4.085e-05	4.401e-05	0.0002	3.377e-05	3.065e-05	3.978e-05	3.575e-05	0	0	0	0	0	0.0002	5.037e-05	6.624e-05	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.008	0.58626	D	0.009	0.66756	D	1.0	0.90584	D	0.997	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.8	0.81625	M	3.25	0.09915	T	-3.97	0.73684	D	0.979	0.99181	-1.0830	0.06776	T	0.079	0.31344	T	10	0.82128334	0.81331	D	0.030332	0.52661	D	0.465	0.76089	.	.	0.463586170655	0.45986	0.9106100532462555	0.91035	0.763416472857	0.64382	0.739234089851	0.72860	T	0.122299	0.45812	T	0.0811546	0.62175	D	0.0941315	0.76520	D	0.889382123947144	0.54009	D	0.962104	0.85685	D	0.59542865	0.72444	0.60808307	0.77209	0.59542865	0.72445	0.60808307	0.77210	-13.803	0.92560	D	0.7913941974796367	0.86977	0.960	0.89054	P	.;.;.;.	.;.;.;.	4.971477	0.82278	27.7	0.99939804479666761	0.99767	0.99048	0.90464	D	AEFDBI	0.909023	0.86512	D	0.765745833829191	0.83927	8.147096	0.771973233833415	0.87788	9.344139	0.999999999989919	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.917000	0.92339	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.514	0.87663	778	0.48011	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2444.43	33	chr4	530476	.	G	C	2444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.193;DP=578;ExcessHet=0;FS=8.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.06;SOR=1.144	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	9	0	1	0
chr4	654137	654137	C	T	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_001145292:exon3:c.C73T:p.R25C,PDE6B:NM_001350154:exon3:c.C73T:p.R25C,PDE6B:NM_001379246:exon3:c.C73T:p.R25C,PDE6B:NM_001379247:exon3:c.C73T:p.R25C,PDE6B:NM_000283:exon5:c.C910T:p.R304C,PDE6B:NM_001145291:exon5:c.C910T:p.R304C	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2014936	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.271	0.098802548146	.	.	8.335e-06	0	0	0	0	1.522e-05	0	0	6.5e-06	1	154602	rs573290599	1.984e-05	2.052e-05	2.179e-05	1.788e-05	0.0005	1.392e-05	1.204e-05	0.0001	7.541e-05	2.987e-05	2.236e-05	0	7.557e-05	0	0.0005	1.619e-05	3.312e-05	1.159e-05	2.626e-05	2.624e-05	0	5.37e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.004	0.91255	D	0.164	0.83351	T	0.325	0.34240	B	0.071	0.32014	B	0.023515	0.26429	N	0.411101	0.999991	0.58761	D	1.175	0.29870	L	-0.27	0.73949	T	-3.95	0.85765	D	0.549	0.57518	-0.3482	0.73606	T	0.341	0.70680	T	10	0.34120986	0.51176	T	0.098803	0.77003	D	0.271	0.58633	0.491	0.57732	0.850389496249	0.84895	0.4773987303601982	0.47659	0.260720287398	0.28635	0.7030184865	0.67580	T	0.732805	0.92535	D	0.00900039	0.52890	T	-0.0433201	0.67477	D	0.557356357574463	0.34755	D	0.843416	0.57273	T	0.3009428	0.52990	0.2207436	0.46861	0.3009428	0.52990	0.2207436	0.46860	-7.634	0.69682	D	.	.	0.090	0.25527	B	.;.;.;.;.	.;.;.;.;.	3.965425	0.58188	23.9	0.99696995684393364	0.80316	0.79619	0.39488	D	AEFDBI	0.615256	0.60227	D	0.109478113359446	0.46904	2.923757	0.208024034465156	0.50294	3.222816	0.999917990059947	0.45857	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.1	5.1	0.68917	1.377000	0.33923	.	.	0.589000	0.31548	0.185000	0.24126	0.348000	0.24457	0.700000	0.34141	0.0:1.0:0.0:0.0	16.031	0.80381	799	0.44747	.;GAF domain|GAF domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	704.43	36	chr4	654137	.	C	T	704.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=379;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=0.652;SOR=0.894	GT:AD:DP:GQ:PL	0/1:42,30:72:99:716,0,927	9	0	1	0
chr4	681983	681983	A	G	exonic	MYL5;SLC49A3	.	nonsynonymous SNV	MYL5:NM_002477:exon7:c.A511G:p.K171E,SLC49A3:NM_001294342:exon8:c.T1301C:p.F434S,MYL5:NM_001363650:exon8:c.A388G:p.K130E,SLC49A3:NM_001378059:exon8:c.T1367C:p.F456S,SLC49A3:NM_001378060:exon8:c.T1364C:p.F455S,SLC49A3:NM_001378062:exon8:c.T1298C:p.F433S,SLC49A3:NM_001378061:exon9:c.T1421C:p.F474S,SLC49A3:NM_001294341:exon10:c.T1658C:p.F553S,SLC49A3:NM_032219:exon10:c.T1655C:p.F552S	.	412	1103	7	0	0	7	0.00316313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0540066422837	0.0002	0.000399361	0.0009	0	0.0008	0.0002	0.0002	0.0006	0.0016	0.0049	0.0006339	98	154602	rs139852524	0.0006	0.0007	0.0005	0.0007	0.0036	0.0006	0.0006	0.0029	0.0027	3.875e-05	0.0004	0.0014	6.414e-05	0.0002	0.0036	0.0005	0.0005	0.0032	0.0005	0.0005	0.0005	0.0004	0.0012	0.0004	0.0003	0.0005	0.0005	4.827e-05	0	0.0003	0.0029	0.0002	0	0	0.0007	0	0.0012	0.369	0.11994	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.996466	0.43220	D	0.285	0.10073	N	0.28	0.71779	T	-1.03	0.27052	N	0.145	0.18649	-1.0524	0.13736	T	0.102	0.37743	T	9	0.0029435158	0.00048	T	0.054007	0.65690	D	0.097	0.27909	.	.	0.406120066682	0.40223	0.20138441311142394	0.20055	0.0472367716698	0.05146	.	.	.	0.038062	0.24707	T	-0.147208	0.28748	T	0.0133478	0.71198	D	0.0494956813126129	0.05410	T	0.848415	0.52967	T	0.19368392	0.41088	0.091901414	0.21630	0.19368392	0.41088	0.091901414	0.21629	-7.433	0.63344	T	.	.	0.121	0.25199	B	.;.;.;.	.;.;.;.	3.009034	0.40229	21.1	0.99533067784238916	0.70025	0.25685	0.22772	N	AEFDBHCI	0.157207	0.28268	N	-1.11066751158289	0.06452	0.2970673	-1.09274000645466	0.07842	0.3831098	0.9999999488501	0.74766	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.31	-5.37	0.02472	0.124000	0.15557	.	.	0.748000	0.86766	0.463000	0.26667	0.001000	0.17328	0.840000	0.39645	0.4342:0.0:0.435:0.1308	6.083	0.19173	814	0.42100	.;.;.;EF-hand domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002020	0.005155	0.000000	0.000000	0.000000	0.008621	0.006135	0.003788	0.05	1116.43	33	chr4	681983	.	A	G	1116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=435;ExcessHet=0;FS=4.244;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-1.05;SOR=0.853	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	9	0	1	0
chr4	962443	962443	G	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon18:c.C2206T:p.P736S	.	.	.	.	.	.	.	.	.	.	.	3246928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.313	0.301486140503	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380526612	3.513e-06	8.209e-06	4.182e-06	2.832e-06	7.371e-05	1.03e-06	7.5e-07	1.954e-05	1.042e-05	3.055e-05	7.371e-05	0	0	2.418e-05	0	0	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	9.407e-05	0	0	0	0	0.205	0.20002	T	0.475	0.12072	T	1.0	0.90584	D	0.98	0.74843	D	0.000002	0.62929	D	0.102926	0.999845	0.49770	D	2.42	0.70002	M	-1.4	0.80474	T	-1.32	0.32991	N	0.537	0.56489	-0.2759	0.75652	T	0.497	0.80970	T	10	0.62290066	0.68079	D	0.301486	0.90897	D	0.313	0.63482	0.342	0.33464	0.843020807234	0.84152	0.40027142158085804	0.39942	0.475349613612	0.46714	0.54937261343	0.45769	T	0.039941	0.25362	T	0.0491283	0.58231	T	-0.167207	0.57698	T	0.736256003379822	0.42537	D	0.906409	0.67021	D	0.07564722	0.17057	0.11217617	0.27065	0.07564722	0.17057	0.11217617	0.27065	-8.008	0.61125	D	.	.	0.144	0.31758	B	.	.	4.873022	0.79845	27.2	0.99898377053110388	0.97048	0.84412	0.43494	D	AEFDBCI	0.449622	0.50436	N	0.136516592325105	0.48175	3.033076	0.212453364897481	0.50538	3.244783	0.999974845546754	0.50053	0.706548	0.73137	0	0.643519	0.57511	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.55	4.55	0.55429	3.852000	0.55642	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	15.148	0.72354	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2529.43	35	chr4	962443	.	G	A	2529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-0.806;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	0	1	0
chr4	962444	962444	C	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon18:c.G2205T:p.E735D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0298732648542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.05046	T	0.529	0.10138	T	0.183	0.29179	B	0.088	0.29688	B	0.000003	0.62929	D	0.102091	0.930988	0.36975	D	0.635	0.15989	N	-1.4	0.80474	T	0.62	0.02442	N	0.271	0.30687	-1.0788	0.07582	T	0.040	0.17149	T	10	0.1328412	0.25283	T	0.029873	0.52303	D	0.242	0.54781	0.344	0.33788	0.77859163476	0.77655	0.33667086288448145	0.33580	0.181664737261	0.20417	0.583455502987	0.50572	T	0.024105	0.18278	T	-0.0377592	0.46282	T	-0.292015	0.45562	T	0.338882774114609	0.26579	T	0.79742	0.44137	T	0.060168546	0.12314	0.052334275	0.08600	0.060168546	0.12314	0.052334275	0.08599	-5.709	0.43773	T	.	.	0.119	0.24294	B	.	.	2.250260	0.28740	17.90	0.97014375651131202	0.31997	0.63848	0.32218	D	AEFDBCI	0.284730	0.39753	N	-0.327295213582682	0.28115	1.548082	-0.252522342281686	0.29684	1.665086	0.62315769147438	0.21903	0.706548	0.73137	0	0.694456	0.67091	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.55	2.35	0.28166	0.326000	0.19391	.	.	0.599000	0.40250	0.983000	0.35670	0.997000	0.33255	0.862000	0.40904	0.0:0.4889:0.2221:0.2889	3.177	0.06180	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2529.43	35	chr4	962444	.	C	A	2529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-0.305;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	0	1	0
chr4	989390	989390	C	T	exonic	SLC26A1	.	nonsynonymous SNV	SLC26A1:NM_022042:exon3:c.G1549A:p.G517R,SLC26A1:NM_213613:exon4:c.G1549A:p.G517R	.	0	225	1	0	0	1	0.00221729	.	.	.	438636	SLC26A1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.142	.	0.0030	0.00299521	0.0019	0.0167	0.0029	0	0	7.288e-05	0	0.0002	0.000815	126	154602	rs187110381	0.0003	0.0004	0.0004	0.0003	0.0128	0.0003	0.0003	0.0118	0.0114	0.0128	0.0008	0	0	0	0	8.259e-06	0.0004	0.0002	0.0037	0.0037	0.0038	0.0037	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0008	0	0	0	0	2.94e-05	0.0024	0	0.2	0.20381	T	0.436	0.13480	T	0.539	0.37887	P	0.069	0.27757	B	0.619771	0.10789	N	0.848788	0.999999	0.08975	N	1.65	0.42232	L	-3.2	0.93231	D	0.07	0.06138	N	0.101	0.08366	-0.4215	0.71343	T	0.452	0.78591	T	10	0.0044092834	0.00090	T	.	.	.	0.142	0.37995	0.381	0.39807	0.832957468494	0.83136	0.5589556989401784	0.55822	0.17288253818	0.19474	0.492242485285	0.37749	T	0.050947	0.28740	T	-0.330118	0.06103	T	-0.235937	0.51194	T	0.00272057357846831	0.00028	T	0.783822	0.42110	T	0.044508856	0.07126	0.06248227	0.12232	0.044508856	0.07126	0.06248227	0.12232	-7.131	0.54984	T	0.1900286866858847	0.24880	0.104	0.19639	B	.;.	.;.	1.240278	0.16358	12.49	0.97475505292863807	0.34157	0.18125	0.20130	N	AEFBHCI	0.157149	0.28261	N	-0.584042128959142	0.19429	1.016794	-0.640552696930448	0.18456	0.9859772	0.99984978971285	0.43971	0.615465	0.37627	0	0.588066	0.40923	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.84	3.04	0.34171	0.056000	0.14136	.	.	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.175000	0.21139	0.0:0.5794:0.3283:0.0923	7.140	0.24725	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002037	0.005319	0.002740	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1046.43	57	chr4	989390	.	C	T	1046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=489;ExcessHet=0;FS=3.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.255;SOR=0.806	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr4	1355132	1355132	G	A	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon7:c.G1063A:p.G355R,UVSSA:NM_001317935:exon7:c.G1063A:p.G355R,UVSSA:NM_020894:exon7:c.G1063A:p.G355R	UV-sensitive syndrome 3, Autosomal recessive	0	1499	23	0	0	23	0.00761337	.	.	.	709171	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.378	.	0.0060	0.00399361	0.0043	0.0008	0.0026	0	0.0006	0.0065	0.0046	0.0027	0.0043725	676	154602	rs116741007	0.0075	0.0075	0.0076	0.0075	0.0137	0.0074	0.0074	0.0113	0.0104	0.0009	0.0028	0.0136	0	0.0005	0.0137	0.0088	0.0072	0.0028	0.0048	0.0048	0.0052	0.0044	0.0075	0.0045	0.0044	0.0070	0.0068	0.0013	0	0.0054	0.0138	0	0.0004	0.0136	0.0075	0.0066	0.0019	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.93	0.66466	D	0.000002	0.62929	D	0.099697	1	0.81001	D	.	.	.	1.3	0.35590	T	-5.71	0.87457	D	0.616	0.63289	-0.7958	0.55391	T	0.121	0.42187	T	10	0.0065534115	0.00149	T	.	.	.	0.378	0.69612	0.604	0.73586	0.3571064206	0.35317	0.3409813756949449	0.34011	0.0379371196811	0.04027	0.475162267685	0.35392	T	0.343062	0.71175	T	-0.236494	0.15800	T	-0.108059	0.62766	T	0.0332786131309351	0.02518	T	0.635836	0.24975	T	0.5558062	0.70278	0.48588723	0.70244	0.60932237	0.73193	0.54098153	0.73471	-10.627	0.77573	D	0.6940485124012379	0.77217	0.321	0.54573	B	.;.;.	.;.;.	3.387869	0.46888	22.4	0.99790471125093161	0.87661	0.97876	0.77794	D	AEFDBI	0.481640	0.52285	N	0.408738527634659	0.61901	4.397734	0.283807181351574	0.54595	3.623886	0.999999999994943	0.74766	0.651	0.46895	0	0.694456	0.67091	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	5.26	5.26	0.73479	5.556000	0.67011	7.281000	0.58022	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	18.848	0.92183	788	0.46569	.;.;.	RP11-1263C18.1	Skin_Sun_Exposed_Lower_leg	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.005051	0.014986	0.035088	0.050000	0.000000	0.009146	0.003788	0.05	1611.43	40	chr4	1355132	.	G	A	1611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=471;ExcessHet=0;FS=1.346;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.045;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr4	1728652	1728652	C	T	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon4:c.C1250T:p.P417L	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.034970673583	0.0012	0.000399361	0.0009	9.654e-05	0.0003	0	0.0003	0.0012	0.0033	0.0011	0.0008861	137	154602	rs78833872	0.0010	0.0010	0.0010	0.0010	0.0158	0.0009	0.0009	0.0132	0.0122	0.0002	0.0001	0.0006	2.519e-05	0.0002	0.0158	0.0010	0.0008	0.0013	0.0005	0.0005	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0	0.0006	0	9.425e-05	0	0.0009	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	0.057	0.22878	B	0.041	0.23986	B	0.065711	0.21861	N	0.371362	0.999594	0.47742	D	2.125	0.59049	M	1.58	0.29085	T	-7.5	0.95045	D	0.306	0.34552	-1.0482	0.14903	T	0.087	0.33718	T	10	0.044314265	0.03374	T	0.034971	0.56032	D	0.165	0.42395	.	.	0.423360453849	0.41956	0.17407832463137074	0.17326	0.0699481964536	0.07839	0.323778152466	0.13993	T	0.693531	0.91111	D	-0.409187	0.02013	T	-0.385172	0.35116	T	0.105140044146313	0.12913	T	0.661134	0.27033	T	0.13189697	0.30729	0.1775634	0.40366	0.13189697	0.30729	0.1775634	0.40366	-9.591	0.71424	D	.	.	0.175	0.38372	B	.	.	1.797417	0.22847	15.79	0.98922302618416713	0.48583	0.84100	0.43185	D	AEFBCI	0.139229	0.26076	N	-0.528331456379953	0.21168	1.121431	-0.550483610537848	0.20793	1.121933	0.999949768047237	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.638787	0.57140	0	.	.	5.4	2.75	0.31439	2.166000	0.42032	-1.004000	0.06636	-0.230000	0.07744	0.956000	0.33378	0.000000	0.08366	0.000000	0.00833	0.0:0.7874:0.0:0.2126	10.382	0.43302	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009073	0.010101	0.002717	0.032164	0.000000	0.025862	0.000000	0.003817	0.05	950.43	33	chr4	1728652	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=0.844;SOR=0.767	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr4	1744729	1744729	C	A	exonic	TACC3	.	nonsynonymous SNV	TACC3:NM_006342:exon15:c.C2348A:p.A783D	.	418	1095	9	0	0	9	0.00409277	.	.	.	734520	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.259	.	0.0002	0.000998403	0.0022	0.0002	0.0008	0	0	0.0008	0.0024	0.0115	0.0017464	270	154602	rs144776052	0.0011	0.0011	0.0008	0.0014	0.0104	0.0011	0.0011	0.0098	0.0096	0	0.0006	0.0049	2.519e-05	3.848e-05	0.0038	0.0004	0.0015	0.0104	0.0006	0.0006	0.0005	0.0007	0.0066	0.0005	0.0005	0.0048	0.0042	4.81e-05	0	0.0008	0.0058	0	0	0	0.0004	0.0009	0.0066	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.974	0.73157	D	0.001878	0.37789	N	0.112328	0.999982	0.54805	D	2.735	0.79925	M	0.86	0.46777	T	-5.36	0.84811	D	0.666	0.67477	-0.5229	0.67807	T	0.273	0.64422	T	10	0.01585102	0.00333	T	.	.	.	0.259	0.57090	.	.	0.741605723735	0.73928	0.5972649816667596	0.59657	0.432787875245	0.43447	0.388658106327	0.23480	T	0.392123	0.75187	T	-0.358582	0.04211	T	-0.278459	0.46962	T	0.0750818037569585	0.09347	T	0.972403	0.89999	D	0.89337164	0.90798	0.83867383	0.90751	0.89337164	0.90799	0.83867383	0.90751	-13.411	0.90985	D	.	.	0.630	0.70130	P	.	.	4.028937	0.59562	24.1	0.99730559226398685	0.82761	0.86252	0.45497	D	AEFDBCI	0.349640	0.44336	N	0.464143856387653	0.65011	4.768953	0.36180559971387	0.59221	4.09826	0.999999984640629	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.21	4.35	0.51454	3.741000	0.54810	3.140000	0.36479	-0.190000	0.09434	0.547000	0.27322	0.073000	0.22253	0.096000	0.18090	0.0:0.9246:0.0:0.0754	14.032	0.64144	804	0.43891	Transforming acidic coiled-coil-containing protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003535	0.010101	0.001359	0.005848	0.000000	0.000000	0.003086	0.003817	0.05	1071.43	78	chr4	1744729	.	C	A	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.013;DP=437;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.415;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1018	9	0	1	0
chr4	2042400	2042400	-	TG	exonic	C4orf48	.	frameshift insertion	C4orf48:NM_001141936:exon2:c.49_50insTG:p.P17Lfs*8,C4orf48:NM_001168243:exon2:c.148_149insTG:p.P50Lfs*8	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs879393703	0.0023	0.0015	0.0025	0.0021	0.0079	0.0021	0.0021	0.0046	0.0037	0.0050	0.0041	0.0002	0.0028	0.0090	0.0079	0.0014	0.0033	0.0007	0.0033	0.0034	0.0027	0.0039	0.0049	0.0031	0.0030	0.0044	0.0042	0.0049	0	0.0037	0.0003	0.0018	0.0104	0.0034	0.0016	0.0048	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	33.43	25	chr4	2042400	.	C	CTG	33.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.18;DP=139;ExcessHet=0;FS=0;InbreedingCoeff=-0.0563;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.78;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:27:.:.:0,27,281:.	9	0	1	0
chr4	2042401	2042401	-	T	exonic	C4orf48	.	frameshift insertion	C4orf48:NM_001141936:exon2:c.50_51insT:p.L18Afs*92,C4orf48:NM_001168243:exon2:c.149_150insT:p.L51Afs*94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs764547021	0.0016	0.0010	0.0017	0.0015	0.0102	0.0015	0.0014	0.0060	0.0048	0.0062	0.0051	0	0.0001	0.0001	0.0102	0.0015	0.0030	0.0009	0.0024	0.0025	0.0024	0.0024	0.0048	0.0022	0.0021	0.0043	0.0041	0.0048	0	0.0034	0.0003	0.0004	9.992e-05	0.0035	0.0014	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3787.49	25	chr4	2042401	.	C	CT	3787.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.671;DP=142;ExcessHet=0;FS=0;InbreedingCoeff=-0.0451;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=32.37;ReadPosRankSum=1.41;SOR=0.941	GT:AD:DP:GQ:PL	0/0:0,0:9:27:308,322,356	9	0	1	0
chr4	2081632	2081632	C	T	splicing	POLN	NM_181808:exon22:c.2308+1G>A	.	.	.	428	1083	11	0	0	11	0.00505282	1.0000	0.952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000399361	0.0004	0.0004	0	0	0	0.0006	0.0011	0.0002	0.0003558	55	154602	rs143143974	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0.0004	6.708e-05	0.0028	0	1.872e-05	0.0028	0.0002	0.0005	0.0005	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0	0	0.0035	0	0	0.0034	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0909168	0.63292	D	0.246853	0.85473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.111848	0.85468	28.6	0.99418941996589361	0.63645	0.90581	0.51876	D	AEFBI	.	.	.	0.982582759655914	0.95185	13.38439	0.789601522924616	0.89062	9.822917	0.999987448382144	0.51787	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.062806	0.01542	0	0.976	0.79503	4.32	4.32	0.50899	2.365000	0.43849	7.173000	0.57731	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:1.0:0.0:0.0	12.476	0.55154	788	0.46569	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	38	chr4	2081632	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.47;DP=478;ExcessHet=0;FS=3.878;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-1.578;SOR=1.016	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1057	9	0	1	0
chr4	2208153	2208153	C	A	exonic	POLN	.	nonsynonymous SNV	POLN:NM_181808:exon5:c.G548T:p.G183V	.	439	1076	7	0	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00486440235815	0.0002	0.000399361	0.0005	0	0.0004	0	0	0.0007	0.0022	0.0003	0.0004851	75	154602	rs145476355	0.0003	0.0003	0.0003	0.0004	0.0061	0.0003	0.0003	0.0045	0.0039	0.0005	0.0004	0.0055	0	0	0.0061	0.0002	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0002	7.218e-05	0	0.0004	0.0055	0	0	0.0136	0.0003	0.0005	0.0004	0.022	0.48642	D	0.224	0.25591	T	0.002	0.09854	B	0.002	0.06944	B	0.037286	0.01831	N	1.961470	1	0.08975	N	0	0.06538	N	3.67	0.04188	T	0.28	0.04233	N	0.109	0.09490	-0.9578	0.39589	T	0.009	0.03403	T	10	0.0064322352	0.00146	T	0.004864	0.12192	T	0.011	0.01250	.	.	0.213573922156	0.20996	0.2078983465201546	0.20705	0.0941472671673	0.10632	0.219302907586	0.01270	T	0.001787	0.01205	T	-0.5354	0.00357	T	-0.666293	0.07848	T	0.0106703783804796	0.00150	T	0.304969	0.05824	T	0.047347385	0.08078	0.062223263	0.12138	0.047347385	0.08078	0.062223263	0.12138	-3.459	0.15863	T	.	.	0.076	0.07272	B	.;.	.;.	0.380614	0.07526	4.173	0.84431217527668567	0.15288	0.01763	0.05540	N	AEFI	0.060293	0.11448	N	-1.21011174215368	0.04852	0.2198662	-1.18068658858636	0.06232	0.2993641	1.23107835998426E-4	0.05386	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.27	1.55	0.22356	0.035000	0.13685	0.858000	0.22201	-0.229000	0.07765	0.001000	0.13787	0.230000	0.23777	0.058000	0.15825	0.0819:0.3097:0.4678:0.1406	4.525	0.11382	618	0.66225	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.004076	0.014620	0.000000	0.025862	0.009146	0.000000	0.05	908.43	35	chr4	2208153	.	C	A	908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=402;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.229;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	9	0	1	0
chr4	2304695	2304695	G	A	exonic	ZFYVE28	.	nonsynonymous SNV	ZFYVE28:NM_001172656:exon7:c.C1555T:p.P519S,ZFYVE28:NM_001172659:exon8:c.C1435T:p.P479S,ZFYVE28:NM_020972:exon8:c.C1645T:p.P549S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0318257990511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173469192	9.587e-06	9.577e-06	1.499e-05	4.13e-06	1.16e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.483	0.11795	T	0.001	0.12183	B	0.001	0.06944	B	0.131522	0.02812	N	1.787970	1	0.08975	N	-1.795	0.00292	N	0.49	0.55775	T	-1.22	0.30964	N	0.045	0.01740	-0.9291	0.44270	T	0.036	0.15334	T	10	0.018920451	0.00416	T	0.031826	0.53814	D	0.108	0.30607	0.083	0.00760	0.158540857583	0.15491	0.22120886381997534	0.22035	0.0446812176792	0.04828	0.238459214568	0.02653	T	0.003428	0.02839	T	-0.310239	0.07727	T	-0.683413	0.06777	T	0.0761929930526001	0.09493	T	0.654235	0.26451	T	0.021792248	0.00802	0.041105717	0.04597	0.021792248	0.00802	0.041105717	0.04597	-3.303	0.14285	T	.	.	0.057	0.05360	B	.;.;.	.;.;.	-0.894172	0.00935	0.036	0.90709433690000707	0.19960	0.02981	0.07832	N	AEFBI	0.062020	0.11895	N	-1.63602413402654	0.01095	0.04753957	-1.63931461358868	0.01432	0.06475107	0.998889715486014	0.37891	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.01	-7.02	0.01433	-0.031000	0.12237	-0.227000	0.10711	-0.169000	0.11342	0.002000	0.15269	0.000000	0.08366	0.046000	0.14843	0.5852:0.107:0.102:0.2058	3.471	0.07132	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1644.43	43	chr4	2304695	.	G	A	1644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.994;DP=600;ExcessHet=0;FS=4.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.414;SOR=0.49	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	9	0	1	0
chr4	2626566	2626566	G	T	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001366316:exon4:c.G621T:p.E207D,FAM193A:NM_001366318:exon4:c.G792T:p.E264D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19286174	0.35032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75326448679	0.74928	T	.	.	.	.	.	.	.	.	.	.	.	.	0.823618	0.48435	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.29995	B	.	.	2.611228	0.33913	19.48	0.88362276273946416	0.17917	0.90479	0.51689	D	AEFBI	.	.	.	.	.	.	.	.	.	0.109649837567713	0.16613	0.295142	0.05270	0	0.271743	0.05004	0	0.343423	0.05949	0	0.322829	0.05601	0	0.335098	0.35816	5.27	3.14	0.35196	0.519000	0.22570	2.282000	0.31903	-0.113000	0.14837	0.999000	0.42656	1.000000	0.68203	0.990000	0.65344	0.2111:0.1536:0.6353:0.0	6.018	0.18838	627	0.65350	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	39.78	0	chr4	2626566	.	G	T	39.78	.	AC=2;AF=0.25;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.89;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,82	3	1	0	6
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	206.6	131	chr4	2662992	.	G	C	206.6	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.757;DP=1100;ExcessHet=1.5895;FS=233.351;InbreedingCoeff=-0.3891;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=0.827;SOR=10.823	GT:AD:DP:GQ:PL	./.:93,0:93:0:0,0,1715	4	0	4	2
chr4	2696483	2696483	G	A	exonic	FAM193A	.	nonsynonymous SNV	FAM193A:NM_001256666:exon16:c.G2524A:p.V842I,FAM193A:NM_001256668:exon16:c.G2524A:p.V842I,FAM193A:NM_003704:exon16:c.G2524A:p.V842I,FAM193A:NM_001256667:exon17:c.G2590A:p.V864I,FAM193A:NM_001366316:exon18:c.G3226A:p.V1076I,FAM193A:NM_001366318:exon18:c.G3397A:p.V1133I	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00839883582262	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs758641625	2.326e-05	2.326e-05	2.178e-05	2.475e-05	4.472e-05	1.674e-05	1.477e-05	1.83e-05	1.582e-05	2.987e-05	4.472e-05	0	0	1.872e-05	0	2.608e-05	0	1.159e-05	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.059	0.41364	T	0.196	0.29843	T	0.066	0.28093	B	0.017	0.18140	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	1.32	0.35590	T	-0.72	0.20358	N	0.306	0.38541	-1.0748	0.08390	T	0.082	0.32148	T	10	0.13361701	0.25430	T	0.008399	0.22231	T	0.039	0.10176	0.23	0.15705	0.0675242888579	0.06100	0.2853525383445503	0.28448	1.07010202158	0.76782	0.449056863785	0.31815	T	0.015864	0.19191	T	-0.324509	0.06535	T	-0.518008	0.20497	T	0.228325967701328	0.21872	T	0.794021	0.43594	T	0.09696867	0.22850	0.080216736	0.18127	0.09696867	0.22850	0.080216736	0.18127	-7.863	0.60838	D	.	.	0.091	0.13221	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.901048	0.38450	20.7	0.99163263419850356	0.54155	0.91682	0.54040	D	ALL	0.778285	0.71083	D	-0.168476162308607	0.34452	1.966605	-0.0985241867208637	0.35452	2.051217	1.0	0.98316	0.706548	0.73137	0	0.52208	0.09955	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.26	4.42	0.52775	7.304000	0.78201	5.841000	0.50249	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0792:0.0:0.9207:0.0	12.719	0.56503	628	0.65206	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1521.43	36	chr4	2696483	.	G	A	1521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.451;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	9	0	1	0
chr4	2818245	2818245	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001145856:exon1:c.C22T:p.P8S	Cherubism, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.930354582242	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.22	0.78752	T	-0.19	0.09965	N	0.231	0.25989	-0.7665	0.57049	T	0.183	0.53148	T	9	0.30804557	0.48303	T	0.930355	0.99495	D	0.237	0.54074	0.279	0.23323	0.533469874242	0.52997	.	.	0.163403841518	0.18430	0.810317277908	0.83541	D	.	.	.	-0.0914834	0.37832	T	-0.369186	0.36982	T	0.282766431570053	0.24287	T	0.471653	0.14010	T	.	.	.	.	.	.	.	.	-3.393	0.14963	T	.	.	.	.	.	.	.	1.356460	0.17649	13.29	0.99252995052756954	0.56957	0.08110	0.14079	N	AEFDGBHCI	0.111429	0.22062	N	-0.420943966689194	0.24736	1.337771	-0.485437131216036	0.22554	1.225584	0.999999984545468	0.74766	0.495885	0.18260	0	0.218748	0.04544	0	0.166054	0.03999	2	0.554799	0.18163	0	.	.	1.73	1.73	0.23565	0.007000	0.13074	-0.048000	0.12582	-0.721000	0.03806	0.528000	0.27173	0.000000	0.08366	0.037000	0.13953	0.0:1.0:0.0:0.0	6.922	0.23574	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	39.79	.	chr4	2818245	.	C	T	39.79	.	AC=2;AF=0.25;AN=8;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.9;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	6
chr4	2829538	2829538	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon8:c.C632T:p.T211M,SH3BP2:NM_001145855:exon8:c.C716T:p.T239M,SH3BP2:NM_001145856:exon8:c.C803T:p.T268M,SH3BP2:NM_003023:exon8:c.C632T:p.T211M	Cherubism, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	829066	Fibrous_dysplasia_of_jaw	MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.597705338775	7.7e-05	.	8.316e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs375942374	3.148e-05	3.147e-05	3.54e-05	2.751e-05	3.867e-05	2.413e-05	2.158e-05	2.913e-05	2.589e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.867e-05	0	0	1.973e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	0.138	0.25873	T	0.138	0.36365	T	0.011	0.15914	B	0.003	0.08700	B	0.101797	0.02554	N	1.695980	1	0.08975	N	0.395	0.12235	N	-3.74	0.95493	D	-1.04	0.35399	N	0.137	0.13484	-0.0270	0.81694	T	0.648	0.87738	D	10	0.19069451	0.34724	T	0.597705	0.96447	D	0.232	0.53354	.	.	0.855039209147	0.85363	.	.	0.196705550605	0.22038	0.389755964279	0.23636	T	0.220777	0.58415	T	-0.0896587	0.38132	T	-0.258908	0.48934	T	0.0162490852857869	0.00398	T	0.539146	0.18203	T	0.01354537	0.00062	0.025402175	0.00583	0.01354537	0.00062	0.025402175	0.00583	-4.188	0.26577	T	0.11435648641167205	0.10111	0.070	0.03372	B	.;.;.;.;.;.	.;.;.;.;.;.	0.767914	0.11380	7.992	0.9354226123371524	0.23369	0.00903	0.03537	N	AEFBI	0.043962	0.07015	N	-1.14818289818741	0.05809	0.265819	-1.21098131106544	0.05732	0.2739818	0.997424063203947	0.35604	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.33	-3.76	0.04074	-0.263000	0.08695	-4.124000	0.02329	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.448000	0.27851	0.1892:0.2979:0.0:0.513	5.798	0.17659	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	663.43	52	chr4	2829538	.	C	T	663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.52;DP=348;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.41;SOR=0.412	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,992	9	0	1	0
chr4	2832353	2832353	C	T	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon11:c.C1429T:p.R477W,SH3BP2:NM_001145855:exon11:c.C1513T:p.R505W,SH3BP2:NM_001145856:exon11:c.C1600T:p.R534W,SH3BP2:NM_003023:exon11:c.C1429T:p.R477W	Cherubism, Autosomal dominant	0	1469	50	3	0	56	0.0187041	.	.	.	298197	not_specified|not_provided|Fibrous_dysplasia_of_jaw	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007315,MedGen:C0008029,OMIM:118400,Orphanet:184	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.353	.	0.0032	0.00419329	0.0048	0.0007	0.0014	0.0009	0.0005	0.0044	0.0111	0.0145	0.0046895	725	154602	rs148761331	0.0047	0.0047	0.0043	0.0051	0.0141	0.0046	0.0045	0.0135	0.0132	0.0008	0.0011	0.0028	0.0006	0.0004	0.0097	0.0046	0.0042	0.0141	0.0030	0.0030	0.0034	0.0027	0.0135	0.0028	0.0027	0.0108	0.0099	0.0007	0.0011	0.0010	0.0035	0.0017	0.0003	0	0.0048	0.0024	0.0135	0.005	0.65419	D	0.012	0.79402	D	0.993	0.65571	D	0.719	0.54822	P	0.547009	0.05347	N	1.263160	1	0.08975	N	.	.	.	-1.34	0.80214	T	-2.13	0.50012	N	0.436	0.58287	-0.4768	0.69483	T	0.503	0.81247	D	10	0.009694606	0.00218	T	.	.	.	0.353	0.67418	.	.	0.891418545996	0.89034	.	.	0.496001013045	0.48122	0.261938273907	0.05123	T	0.64222	0.89042	D	-0.285483	0.10094	T	-0.170529	0.57394	T	0.0299888361982015	0.01988	T	0.90391	0.66280	D	0.066479646	0.14309	0.08433826	0.19394	0.076425284	0.17283	0.07091893	0.15126	-7.768	0.60633	D	.	.	0.076	0.05935	B	.;.;.;.;.;.	.;.;.;.;.;.	4.179443	0.62902	24.5	0.99886729642261152	0.96204	0.36689	0.25591	N	AEFDGBCI	0.174426	0.30155	N	0.0692387533215059	0.45032	2.766651	0.0143435380050956	0.40378	2.408904	0.999998199745543	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.28	4.35	0.51454	0.929000	0.28445	3.811000	0.39910	0.599000	0.40250	0.250000	0.24849	0.173000	0.23359	0.798000	0.37648	0.2103:0.6731:0.1166:0.0	9.358	0.37340	726	0.54788	SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain;.;SH2 domain|SH2 domain|SH2 domain|SH3BP2, SH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.004076	0.000000	0.000000	0.008621	0.009146	0.026515	0.05	966.43	38	chr4	2832353	.	C	T	966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=444;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.187;SOR=0.649	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr4	2932649	2932649	G	A	exonic	MFSD10	.	nonsynonymous SNV	MFSD10:NM_001120:exon4:c.C482T:p.T161M,MFSD10:NM_001146069:exon5:c.C482T:p.T161M,MFSD10:NM_001363679:exon5:c.C482T:p.T161M	.	.	.	.	.	.	.	.	.	.	.	2306832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0382226595883	7.7e-05	0.000199681	3.36e-05	9.696e-05	0	0.0002	0	1.518e-05	0	0	4.53e-05	7	154602	rs370161671	9.792e-05	9.782e-05	9.946e-05	9.635e-05	0.0029	8.452e-05	7.929e-05	0.0024	0.0023	2.988e-05	0	0	0.0029	0	0	2.249e-05	4.972e-05	0	4.596e-05	4.593e-05	6.423e-05	2.685e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	4.41e-05	0	0	0.488	0.10838	T	0.563	0.23845	T	0.903	0.49795	P	0.602	0.52168	P	0.000002	0.62929	D	0.100011	1	0.81001	D	1.68	0.43186	L	0.39	0.57419	T	-2.0	0.46146	N	0.693	0.79792	-0.8686	0.50635	T	0.199	0.55527	T	10	0.4220938	0.56932	T	0.038223	0.58095	D	0.201	0.48592	.	.	0.60849730516	0.60535	0.7531804410658527	0.75265	0.151937623519	0.17149	0.502796888351	0.39217	T	0.200322	0.60173	T	-0.054934	0.43694	T	-0.0163614	0.69268	D	0.256841645237325	0.23176	T	0.973953	0.90669	D	0.20605646	0.42768	0.086336754	0.19995	0.20605646	0.42768	0.086336754	0.19994	-5.379	0.40717	T	.	.	0.104	0.23918	B	.;.;.;.;.	.;.;.;.;.	4.240284	0.64281	24.7	0.99579477904725144	0.72921	0.94318	0.60784	D	AEFDGBCI	0.951007	0.96516	D	0.420623265662644	0.62557	4.47355	0.432818343169227	0.63623	4.599576	0.999999999998014	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.86	4.86	0.62624	9.841000	0.98349	11.543000	0.93142	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:1.0:0.0	16.744	0.85328	614	0.66605	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2207.43	139	chr4	2932649	.	G	A	2207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=503;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=0.501;SOR=0.539	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1269	9	0	1	0
chr4	2941692	2941692	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon15:c.C2089T:p.R697C,NOP14:NM_001291979:exon15:c.C2089T:p.R697C,NOP14:NM_003703:exon15:c.C2089T:p.R697C	.	404	1092	26	0	0	26	0.0117647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	0.0032	0.00878594	0.0088	0.0005	0.0044	0.0019	0.0106	0.0077	0.0092	0.0248	0.007736	1196	154602	rs61740573	0.0062	0.0062	0.0057	0.0067	0.0298	0.0061	0.0060	0.0261	0.0247	0.0018	0.0044	0.0296	0.0008	0.0102	0.0298	0.0045	0.0080	0.0204	0.0055	0.0055	0.0048	0.0061	0.0236	0.0052	0.0050	0.0201	0.0188	0.0010	0	0.0046	0.0328	0.0015	0.0100	0.0170	0.0051	0.0118	0.0236	0.015	0.58626	D	0.003	0.79402	D	1.0	0.90584	D	0.91	0.66185	D	0.000073	0.52346	D	0.124363	0.52763	0.31517	N	3.055	0.86842	M	1.46	0.32238	T	-4.09	0.75375	D	0.475	0.51315	-0.5549	0.66599	T	0.138	0.45526	T	10	0.0066779554	0.00151	T	.	.	.	0.213	0.50496	.	.	0.527809512145	0.52428	0.4969263051077896	0.49613	0.4632225215	0.45833	0.259536594152	0.04836	T	0.070444	0.33961	T	-0.400888	0.02284	T	-0.331705	0.41280	T	0.0351601588212269	0.02836	T	0.926207	0.72857	D	0.25870398	0.48920	0.1932095	0.42877	0.25870398	0.48920	0.1932095	0.42876	-7.67	0.58799	D	.	.	0.087	0.23148	B	.;.;.;.	.;.;.;.	4.515894	0.70766	25.6	0.99881421728566111	0.95733	0.70493	0.34613	D	AEFDBHCI	0.141967	0.26429	N	0.29330149020774	0.55808	3.744946	0.141584442563453	0.46698	2.911595	0.999999848330045	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	3.81	0.43020	1.589000	0.36253	6.314000	0.55434	0.676000	0.76740	0.982000	0.35529	0.998000	0.33993	0.016000	0.10718	0.0:0.0:0.6387:0.3613	13.313	0.59830	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027273	0.025773	0.033967	0.035088	0.100000	0.051724	0.018405	0.003788	0.05	765.43	38	chr4	2941692	.	G	A	765.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=402;ExcessHet=0;FS=3.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.07;SOR=1.239	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	9	0	1	0
chr4	2946476	2946476	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon11:c.C1571T:p.A524V,NOP14:NM_001291979:exon11:c.C1571T:p.A524V,NOP14:NM_003703:exon11:c.C1571T:p.A524V	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	0.0034	0.00279553	0.0022	0.0101	0.0009	0	0	0.0022	0.0011	6.056e-05	0.0020698	320	154602	rs114205498	0.0012	0.0012	0.0012	0.0011	0.0107	0.0011	0.0011	0.0098	0.0094	0.0107	0.0008	0.0319	5.038e-05	0	0.0019	0.0003	0.0031	3.478e-05	0.0036	0.0036	0.0039	0.0033	0.0095	0.0034	0.0033	0.0087	0.0084	0.0095	0	0.0012	0.0305	0	0	0.0034	0.0003	0.0043	0.0002	0.081	0.35918	T	0.204	0.29740	T	0.443	0.48446	B	0.214	0.38645	B	0.000087	0.51296	D	0.172614	0.999623	0.47904	D	1.7	0.43825	L	1.6	0.28604	T	-0.81	0.22294	N	0.403	0.44857	-1.0688	0.09679	T	0.044	0.18948	T	10	0.007896602	0.00179	T	.	.	.	0.068	0.19811	.	.	0.368183359018	0.36430	0.37775649632714114	0.37690	0.209868010446	0.23458	0.370763391256	0.20941	T	0.00594	0.06037	T	-0.516223	0.00463	T	-0.506903	0.21634	T	0.0135966560271514	0.00251	T	0.847115	0.52772	T	0.07904348	0.18036	0.11064446	0.26682	0.07904348	0.18036	0.11064446	0.26681	-4.915	0.36992	T	.	.	0.116	0.25946	B	.;.;.;.	.;.;.;.	4.116981	0.61501	24.3	0.99143396535461259	0.53600	0.91330	0.53316	D	AEFBCI	0.385540	0.46624	N	0.12012556646507	0.47402	2.966422	0.204290154810728	0.50085	3.204299	0.999822263543115	0.43622	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.47	4.44	0.53164	3.561000	0.53515	9.523000	0.80936	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0826:0.0:0.9174:0.0	14.836	0.69818	620	0.66037	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.006793	0.000000	0.100000	0.000000	0.000000	0.003788	0.05	2142.43	34	chr4	2946476	.	G	A	2142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.866;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.386;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	9	0	1	0
chr4	3074920	3074920	A	C	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon1:c.A95C:p.Q32P	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0594881249737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253122256	1.046e-05	8.032e-05	1.327e-05	7.578e-06	0.0003	6.07e-06	4.75e-06	0.0001	0.0001	0.0003	0	0	0	0	0	2.855e-06	1.805e-05	2.637e-05	0.0002	0.0002	0.0003	0.0001	0.0008	0.0002	0.0001	0.0005	0.0005	0.0008	0	6.849e-05	0	0	0	0	1.542e-05	0	0	0.047	0.40319	D	0.007	0.69154	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	1.86	0.24285	T	-0.14	0.09135	N	0.175	0.18784	-0.9963	0.30946	T	0.033	0.14117	T	9	0.07753968	0.12250	T	0.059488	0.67679	D	0.068	0.19811	0.258	0.20002	0.607124796947	0.60397	0.21316608393616265	0.21232	0.710576504481	0.61689	0.703980267048	0.67720	T	0.098358	0.40211	T	-0.0743632	0.40628	T	-0.344594	0.39824	T	0.15140530131565	0.17215	T	0.29517	0.05454	T	0.13126162	0.30602	0.31538495	0.57525	0.13126162	0.30602	0.31538495	0.57524	-8.008	0.61125	D	.	.	0.072	0.04436	B	.	.	1.353108	0.17613	13.27	0.52663042483249667	0.04790	0.02020	0.06069	N	AEFDBCIJ	0.090646	0.18367	N	-1.10094207327284	0.06627	0.3056036	-1.16212361944639	0.06553	0.3157847	0.999999127657127	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.171818	0.04044	3	0.621717	0.48901	0	.	.	1.69	-1.23	0.08977	-0.130000	0.10477	1.886000	0.29485	0.000000	0.17513	0.990000	0.36992	1.000000	0.68203	0.077000	0.17074	0.2413:0.5796:0.0:0.1791	5.428	0.15738	542	0.72843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	138.43	59	chr4	3074920	.	A	C	138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.391;DP=422;ExcessHet=0;FS=14.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59;MQRankSum=1.12;QD=5.54;ReadPosRankSum=1.96;SOR=3.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:93:.:.:0,93,1395:.	9	0	1	0
chr4	3074923	3074924	AG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.98_99del:p.Q33Pfs*49	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217378741	9.818e-06	1.463e-05	1.19e-05	7.669e-06	0.0003	5.48e-06	4.22e-06	0.0001	8.466e-05	0.0003	0	0	0	0	0	2.878e-06	1.835e-05	2.673e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.887e-05	0.0004	0.0004	0.0006	0	6.889e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	141.39	59	chr4	3074922	.	CAG	C	141.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.203;DP=421;ExcessHet=0;FS=13.856;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=58.98;MQRankSum=1.15;QD=5.89;ReadPosRankSum=2.06;SOR=3.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:93:.:.:0,93,1395:.	9	0	1	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	799.42	59	chr4	3074923	.	AGC	*	799.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.396;DP=419;ExcessHet=0.7463;FS=7.017;InbreedingCoeff=-0.1767;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=1.91;SOR=0.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:45,0:45:93:.:.:0,93,1395:.	9	0	1	0
chr4	3074927	3074939	GCAGCAGCAACAG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.102_114del:p.Q34Hfs*63	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77e-06	6.26e-06	1.487e-06	6.119e-06	2.678e-05	1.1e-06	8e-07	4.44e-06	1.66e-06	0	0	0	0	0	0	2.874e-06	0	2.678e-05	7.087e-06	1.365e-05	0	1.452e-05	2.708e-05	0	0	.	.	2.708e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	935.12	59	chr4	3074926	.	AGCAGCAGCAACAG	A	935.12	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.763;DP=410;ExcessHet=0.7463;FS=7.017;InbreedingCoeff=-0.1768;MLEAC=1;MLEAF=0.05;MQ=59.71;MQRankSum=0;QD=8.28;ReadPosRankSum=1.97;SOR=0.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:96:.:.:0,96,1440:.	9	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	318.53	59	chr4	3074927	.	G	*	318.53	.	AC=3;AF=0.167;AN=18;BaseQRankSum=0.674;DP=412;ExcessHet=0.2065;FS=1.59;InbreedingCoeff=0.1213;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=-0.126;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:42,0:42:0:.:.:0,0,971:.	6	0	3	1
chr4	3074932	3074932	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	666.55	55	chr4	3074932	.	A	*	666.55	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.674;DP=374;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.2705;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=1.72;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:41,0:41:0:.:.:0,0,943:.	8	0	1	1
chr4	3074935	3074935	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	672.61	55	chr4	3074935	.	A	*	672.61	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.804;DP=364;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.2648;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.31;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:36,0:36:0:.:.:0,0,800:.	8	0	1	1
chr4	3074938	3074938	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	675.62	53	chr4	3074938	.	A	*	675.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.842;DP=359;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.2639;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=1.53;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:37,0:37:0:.:.:0,0,929:.	8	0	1	1
chr4	3074946	3074948	CCG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.121_123del:p.P49del	Huntington disease, Autosomal dominant	77	1081	91	25	248	389	0.0612245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	.	0.0081	0.0093	0	0	0	0.0058	0	0.0092	0.0045084	697	154602	rs780554003	0.0012	0.0052	0.0013	0.0012	0.0323	0.0011	0.0011	0.0302	0.0294	0.0323	0.0023	0.0006	0.0009	0.0002	0.0017	0.0004	0.0023	0.0012	0.0081	0.0078	0.0088	0.0074	0.0293	0.0077	0.0075	0.0278	0.0272	0.0293	0	0.0024	0	0	0	0	0.0002	0.0068	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2730.08	51	chr4	3074945	.	ACCG	A	2730.08	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.05;DP=321;ExcessHet=0.0135;FS=0;InbreedingCoeff=0.3406;MLEAC=1;MLEAF=0.063;MQ=59.82;MQRankSum=0;QD=34.13;ReadPosRankSum=-0.126;SOR=0.636	GT:AD:DP:GQ:PL	./.:33,0:33:0:0,0,594	7	0	1	2
chr4	3317300	3317300	C	T	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_002926:exon2:c.C1130T:p.A377V,RGS12:NM_198229:exon2:c.C1130T:p.A377V	.	418	1098	6	0	0	6	0.0027248	.	.	.	2259688	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0236380966119	0.0003	.	0.0002	0.0010	0.0006	0	0	0.0002	0.0011	0	0.0002523	39	154602	rs148633904	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	0.0006	0.0002	7.557e-05	0	0.0016	0.0001	0.0003	2.319e-05	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0003	0.0006	0	0	0.0034	0.0001	0.0009	0.0002	0.278	0.29959	T	0.269	0.22561	T	0.734	0.42776	P	0.081	0.32951	B	0.000046	0.53742	D	0.127712	0.999997	0.08975	N	2.125	0.59049	M	1.58	0.29085	T	-0.99	0.26200	N	0.062	0.03392	-1.0684	0.09768	T	0.066	0.27330	T	10	0.05054605	0.04802	T	0.023638	0.46609	T	0.075	0.21907	.	.	0.521173705876	0.51762	0.5106530656952983	0.50987	0.182716278974	0.20537	0.446934342384	0.31526	T	0.053552	0.29476	T	-0.459398	0.00992	T	-0.489018	0.23495	T	0.0197136823732203	0.00673	T	0.771723	0.40690	T	0.07327841	0.16363	0.08791097	0.20466	0.07327841	0.16362	0.08791097	0.20465	-5.085	0.37748	T	.	.	0.080	0.16494	B	.;.;.	.;.;.	2.671321	0.34828	19.73	0.99405525927297	0.63028	0.91511	0.53684	D	AEFBI	0.217106	0.34227	N	0.0492173808525283	0.44107	2.690789	0.108420746613855	0.44979	2.769313	0.999991275301803	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.73	4.73	0.59485	3.845000	0.55590	3.242000	0.36972	0.537000	0.25018	0.986000	0.36153	0.998000	0.33993	0.421000	0.27250	0.0:1.0:0.0:0.0	16.692	0.85183	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3238.43	70	chr4	3317300	.	C	T	3238.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=875;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.26;SOR=0.681	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	9	0	1	0
chr4	3444042	3444057	CCCTGGATCCCTGTGC	-	exonic	HGFAC	.	frameshift deletion	HGFAC:NM_001297439:exon5:c.479_494del:p.L161Pfs*81,HGFAC:NM_001528:exon5:c.479_494del:p.L161Pfs*81	.	395	1072	55	0	0	55	0.0250114	.	.	.	2822368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0037	0.0003	0.0019	0	0.0038	0.0038	0.0096	0.0094	0.0005379	14	26028	rs562047823	0.0024	0.0026	0.0020	0.0028	0.0232	0.0023	0.0023	0.0200	0.0187	0.0003	0.0024	0.0083	5.055e-05	0.0039	0.0232	0.0016	0.0042	0.0086	0.0023	0.0023	0.0020	0.0026	0.0081	0.0021	0.0021	0.0061	0.0054	0.0003	0	0.0046	0.0066	0	0.0042	0.0238	0.0022	0.0038	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	168.39	33	chr4	3444041	.	GCCCTGGATCCCTGTGC	G	168.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=304;ExcessHet=0;FS=1.826;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.61;ReadPosRankSum=0;SOR=1.329	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,613	9	0	1	0
chr4	3463546	3463546	T	C	exonic	DOK7	.	nonsynonymous SNV	DOK7:NM_001164673:exon2:c.T95C:p.V32A,DOK7:NM_001301071:exon2:c.T95C:p.V32A,DOK7:NM_001363811:exon2:c.T95C:p.V32A,DOK7:NM_173660:exon2:c.T95C:p.V32A	Myasthenic syndrome, congenital, 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.655968771858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.28646	T	0.027	0.57104	D	0.998	0.73220	D	0.985	0.76457	D	0.002399	0.36650	U	0.000000	0.744356	0.33857	D	2.25	0.63811	M	-3.03	0.92307	D	-2.06	0.47175	N	0.247	0.27910	0.817	0.94625	D	0.808	0.93515	D	10	0.5409583	0.63716	D	0.655969	0.97099	D	0.419	0.72855	0.323	0.30387	0.93986945358	0.93924	0.4642547186380733	0.46344	0.00437898189715	0.00387	0.824047088623	0.85649	D	0.148554	0.48716	T	0.098788	0.64161	D	-0.0958744	0.63716	T	0.853980720043182	0.50512	D	0.805919	0.54741	T	0.13861032	0.32050	0.19804727	0.43618	0.13861032	0.32050	0.19804727	0.43617	-9.565	0.75300	D	0.4899207447858611	0.56701	0.636	0.81093	P	.;.;.	.;.;.	3.739246	0.53529	23.4	0.98374775546964277	0.40791	0.91754	0.54192	D	AEFDBCI	0.640530	0.61819	D	0.407203395496311	0.61818	4.388124	0.302603758906484	0.55692	3.732115	0.999999999857867	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	2.83	2.83	0.32150	1.109000	0.30749	2.735000	0.34419	0.537000	0.25018	0.982000	0.35529	1.000000	0.68203	0.347000	0.25591	0.0:0.0:0.0:1.0	10.158	0.42011	884	0.28482	.;Pleckstrin homology domain|Pleckstrin homology domain|Dok-7, PH domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	31.69	6	chr4	3463546	.	T	C	31.69	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.83;DP=70;ExcessHet=0;FS=0;InbreedingCoeff=-0.0728;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.085;SOR=0.446	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,214	9	0	1	0
chr4	4226602	4226602	C	T	exonic	OTOP1	.	nonsynonymous SNV	OTOP1:NM_177998:exon1:c.G263A:p.S88N	.	402	1114	6	0	0	6	0.00268577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.017784159231	.	.	8.216e-05	0	0	0	0	6.361e-05	0	0.0003	3.84e-05	1	26028	rs776895619	3.519e-05	4.515e-05	3.296e-05	3.743e-05	0.0005	2.72e-05	2.459e-05	0.0002	0.0001	0	6.781e-05	3.868e-05	0	0	0.0005	1.712e-05	8.355e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.627	0.05198	T	1.0	0.01155	T	0.002	0.09854	B	0.004	0.10090	B	0.075050	0.21247	U	0.473582	0.999759	0.20482	N	1.355	0.33814	L	3.09	0.08371	T	-0.38	0.13418	N	0.114	0.10198	-0.9574	0.39662	T	0.013	0.04890	T	10	0.046491742	0.03847	T	0.017784	0.39611	T	0.076	0.22200	0.312	0.28612	0.173771789658	0.16945	0.13763828080973572	0.13687	1.46205250959	0.86366	0.739707231522	0.72929	T	0.067467	0.33209	T	-0.574937	0.00207	T	-0.747478	0.03585	T	0.0356297753751278	0.02917	T	0.59644	0.22167	T	0.12246963	0.28779	0.14208815	0.33814	0.12246963	0.28779	0.14208815	0.33813	-5.147	0.38398	T	.	.	0.094	0.14477	B	.	.	2.848467	0.37596	20.5	0.96097890654407547	0.28703	0.60591	0.31239	D	AEFDGBHCI	0.102459	0.20552	N	-0.486897298250943	0.22510	1.202415	-0.309002668404121	0.27807	1.545642	0.998631898000647	0.37351	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.55	3.55	0.39770	0.886000	0.27878	3.030000	0.36038	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.6593:0.3407:0.0	11.301	0.48542	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001022	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003846	0.05	446.43	41	chr4	4226602	.	C	T	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.123;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.12;MQRankSum=2.42;QD=5.65;ReadPosRankSum=-0.1;SOR=0.77	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr4	5576374	5576374	G	C	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon18:c.C2898G:p.S966R,EVC2:NM_147127:exon18:c.C3138G:p.S1046R	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	3	1507	9	3	0	15	0.00495213	.	.	YES	293721	Ellis-van_Creveld_syndrome|not_specified|not_provided|Curry-Hall_syndrome	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.184	.	0.0096	0.00758786	0.0038	0.0286	0.0029	0	0	0.0018	0.0011	0.0006	0.0034346	531	154602	rs73074138	0.0017	0.0017	0.0017	0.0016	0.0246	0.0016	0.0016	0.0232	0.0226	0.0246	0.0053	0.0054	0	5.621e-05	0.0225	0.0008	0.0037	0.0005	0.0080	0.0080	0.0080	0.0080	0.0234	0.0076	0.0075	0.0222	0.0217	0.0234	0	0.0091	0.0040	0	0	0.0306	0.0010	0.0066	0.0004	0.028	0.46129	D	0.011	0.64786	D	0.868	0.47740	P	0.383	0.43945	B	0.019057	0.27344	N	0.380247	1	0.08975	N	2.56	0.74772	M	-0.93	0.75215	T	-1.33	0.34992	N	0.366	0.40765	-0.9114	0.46682	T	0.108	0.39246	T	10	0.0066734254	0.00151	T	.	.	.	0.184	0.45763	0.254	0.19378	0.724018906263	0.72158	0.1543506842950964	0.15356	0.131878474572	0.14862	0.358229696751	0.19127	T	0.053301	0.29406	T	-0.456421	0.01034	T	-0.408121	0.32442	T	0.0475434294205966	0.05062	T	0.736726	0.35329	T	0.12640536	0.29608	0.12154893	0.29326	0.13297808	0.30946	0.096674144	0.22980	-2.975	0.09914	T	.	.	0.196	0.44397	B	.;.	.;.	1.826318	0.23208	15.93	0.99730011272474239	0.82690	0.06278	0.12271	N	AEFDBI	0.095994	0.19386	N	-0.557501546390611	0.20250	1.066071	-0.643842782117504	0.18372	0.9811565	6.56922854957636E-4	0.07551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.38	-0.219	0.12488	-0.426000	0.07076	-0.449000	0.09111	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.941000	0.48210	0.2348:0.1461:0.6191:0.0	6.138	0.19461	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.021652	0.045455	0.035326	0.023392	0.000000	0.034483	0.006098	0.000000	0.1	3122.12	39	chr4	5576374	.	G	C	3122.12	.	AC=2;AF=0.1;AN=20;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.54;SOR=1.449	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	9	1	0	0
chr4	5628715	5628715	A	G	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon12:c.T1490C:p.M497T,EVC2:NM_147127:exon12:c.T1730C:p.M577T	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	1	1506	12	3	0	18	0.00594059	.	.	.	295120	Ellis-van_Creveld_syndrome|Curry-Hall_syndrome|not_specified|not_provided	MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.656	.	0.0057	0.00599042	0.0023	0.0152	0.0022	0	0	0.0012	0.0011	0.0004	0.0021798	337	154602	rs113869406	0.0013	0.0013	0.0013	0.0013	0.0226	0.0013	0.0013	0.0194	0.0182	0.0164	0.0037	0.0047	0	5.626e-05	0.0226	0.0007	0.0030	0.0003	0.0053	0.0053	0.0052	0.0054	0.0155	0.0050	0.0049	0.0145	0.0141	0.0155	0	0.0055	0.0040	0	0	0.0240	0.0007	0.0063	0.0008	0.002	0.72154	D	0.017	0.60337	D	0.999	0.77913	D	0.977	0.73820	D	0.000116	0.50451	D	0.142673	0.984555	0.40161	D	2.505	0.72935	M	-1.46	0.80983	T	-3.37	0.68532	D	0.858	0.85449	0.086	0.83911	D	0.454	0.78714	T	10	0.010639936	0.00236	T	.	.	.	0.656	0.87085	.	.	0.840034301016	0.83851	0.3783347696063244	0.37748	0.152517565218	0.17208	0.683719336987	0.64803	T	0.746757	0.93028	D	-0.0670031	0.41805	T	0.143952	0.79801	D	0.0237359276258657	0.01112	T	0.618038	0.24270	T	0.5912612	0.72219	0.68935335	0.81724	0.58076334	0.71651	0.70680547	0.82714	-3.999	0.23789	T	.	.	0.189	0.43448	B	.;.	.;.	3.972208	0.58338	24.0	0.9913075972715637	0.53249	0.94014	0.59854	D	AEFBI	0.557058	0.56684	D	0.610738995802271	0.73852	6.034449	0.576127230319168	0.73233	5.936959	0.999974668323365	0.50053	0.562547	0.31514	0	0.588066	0.40923	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	4.949000	0.63298	5.764000	0.49701	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.000	0.63940	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.021652	0.050505	0.029891	0.032164	0.000000	0.034483	0.006098	0.000000	0.1	4474.12	38	chr4	5628715	.	A	G	4474.12	.	AC=2;AF=0.1;AN=20;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.24;SOR=1.294	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	9	1	0	0
chr4	5694340	5694340	G	A	exonic	EVC2	.	nonsynonymous SNV	EVC2:NM_001166136:exon3:c.C205T:p.R69C,EVC2:NM_147127:exon3:c.C445T:p.R149C	Ellis-van Creveld syndrome, Autosomal recessive;Weyers acrofacial dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1921699	Inborn_genetic_diseases|Curry-Hall_syndrome|Ellis-van_Creveld_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008673,MedGen:C0457013,OMIM:193530,Orphanet:952|MONDO:MONDO:0009162,MedGen:C0013903,OMIM:225500,Orphanet:289	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0297178686121	7.7e-05	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs148388393	2.395e-05	2.463e-05	2.178e-05	2.613e-05	2.988e-05	1.739e-05	1.539e-05	1.914e-05	1.661e-05	2.988e-05	2.236e-05	0	2.519e-05	0	0	2.698e-05	0	2.319e-05	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.168	0.23007	T	0.133	0.34359	T	0.733	0.42736	P	0.109	0.31370	B	0.237541	0.03560	N	1.547490	1	0.08975	N	0.895	0.22405	L	-0.91	0.75001	T	-0.99	0.28290	N	0.292	0.33030	-0.8753	0.50127	T	0.215	0.57599	T	10	0.16100007	0.30211	T	0.029718	0.52173	D	0.194	0.47447	.	.	0.779409940876	0.77737	0.13842752633689684	0.13765	0.0527126008803	0.05807	0.186225682497	0.00165	T	0.039003	0.25040	T	-0.126703	0.32031	T	-0.31212	0.43429	T	0.0713815889800796	0.08844	T	0.713029	0.32487	T	0.05670443	0.11191	0.036036532	0.02971	0.05670443	0.11190	0.036036532	0.02971	-4.779	0.34345	T	.	.	0.075	0.19760	B	.;.	.;.	1.584547	0.20273	14.67	0.87412240047462686	0.17209	0.03779	0.09097	N	AEFBI	0.051975	0.09233	N	-0.653538228649689	0.17357	0.8924686	-0.749375899117261	0.15737	0.8291852	0.0060946638065658	0.11127	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.36	2.56	0.29842	0.968000	0.28955	2.496000	0.33006	0.676000	0.76740	0.007000	0.17678	0.111000	0.22795	0.012000	0.09680	0.1103:0.0:0.6842:0.2055	5.077	0.13972	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1242.43	33	chr4	5694340	.	G	A	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.743;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.103;SOR=0.673	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr4	5990128	5990128	C	T	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon5:c.G1381A:p.E461K,C4orf50:NM_001364689:exon6:c.G1918A:p.E640K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	9.06e-05	14	154602	rs546035776	0.0005	0.0004	0.0004	0.0005	0.0053	0.0004	0.0004	0.0040	0.0038	0.0047	0.0003	0.0031	0	4.424e-05	0.0053	0.0003	0.0008	4.291e-05	0.0014	0.0014	0.0015	0.0013	0.0040	0.0012	0.0012	0.0035	0.0033	0.0040	0	0.0003	0.0040	0	0	0.0034	0.0003	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013512313	0.00286	T	.	.	.	.	.	.	.	.	.	0.015188941484753827	0.01474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514149	0.16548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27791	B	.	.	-0.029932	0.04080	0.954	0.66303415562787449	0.08019	0.06894	0.12920	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	3.11773320735929E-4	0.06498	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.062806	0.01542	0	0.141903	0.26807	2.74	-2.75	0.05564	-0.744000	0.04945	-4.605000	0.02073	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2809:0.3524:0.3667	4.010	0.09106	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	68.98	4	chr4	5990128	.	C	T	68.98	.	AC=2;AF=0.143;AN=14;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=34.49;SOR=2.303	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,71	6	1	0	3
chr4	6018311	6018311	G	-	exonic	C4orf50	.	frameshift deletion	C4orf50:NM_001364689:exon1:c.121delC:p.Q41Rfs*47,C4orf50:NM_001364690:exon1:c.121delC:p.Q41Rfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.42	.	chr4	6018310	.	TG	T	55.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	6	0	1	3
chr4	6080291	6080291	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001306134:exon6:c.G628A:p.A210T,JAKMIP1:NM_001099433:exon7:c.G1123A:p.A375T,JAKMIP1:NM_001306133:exon7:c.G1123A:p.A375T,JAKMIP1:NM_144720:exon7:c.G1123A:p.A375T	.	434	1077	10	1	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00722571738236	7.7e-05	0.000199681	0.0005	0	0.0002	0	0	9.025e-05	0	0.0031	0.0004075	63	154602	rs138699844	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	8.947e-05	0	2.519e-05	0	0.0019	3.507e-05	0.0002	0.0029	0.0001	0.0001	8.991e-05	0.0001	0.0015	7.085e-05	5.742e-05	0.0007	0.0005	0	0	0	0	0	0	0.0102	0.0001	0	0.0015	0.092	0.31987	T	0.325	0.36101	T	0.004	0.30509	B	0.015	0.29395	B	0.011833	0.29386	N	0.287918	0.994168	0.23574	N	0	0.06538	N	1.91	0.31470	T	-0.77	0.25332	N	0.159	0.21710	-1.0534	0.13466	T	0.046	0.19640	T	10	0.008037627	0.00182	T	0.007226	0.19171	T	0.027	0.05988	.	.	0.261638197198	0.25763	0.1321002317582474	0.13135	0.630853255338	0.57057	0.455531328917	0.32700	T	0.037801	0.24608	T	-0.540661	0.00332	T	-0.554014	0.16943	T	0.0181557738384515	0.00537	T	0.727427	0.34191	T	0.03467473	0.03937	0.054701712	0.09458	0.03467473	0.03936	0.054701712	0.09457	-3.421	0.17153	T	0.11350665606208556	0.09941	0.079	0.07083	B	.;.;.;.;.	.;.;.;.;.	2.226791	0.28424	17.79	0.97744274823842625	0.35702	0.75837	0.37153	D	AEFBI	0.221552	0.34617	N	-0.553831344486567	0.20364	1.072944	-0.504843009408668	0.22021	1.19406	0.0115834230930867	0.12207	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.44	3.59	0.40253	0.636000	0.24333	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.6223:0.1866:0.1911	5.203	0.14601	988	0.01987	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1062.43	35	chr4	6080291	.	C	T	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.47;DP=402;ExcessHet=0;FS=10.406;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.935;SOR=0.467	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	9	0	1	0
chr4	6291313	6291313	A	C	exonic	WFS1	.	nonsynonymous SNV	WFS1:NM_001145853:exon5:c.A577C:p.K193Q,WFS1:NM_006005:exon5:c.A577C:p.K193Q	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1498	23	1	0	25	0.00827541	.	.	YES	173818	Autosomal_dominant_nonsyndromic_hearing_loss_6|Monogenic_diabetes|WFS1-Related_Spectrum_Disorders|not_specified|Wolfram-like_syndrome|Wolfram_syndrome_1|Cataract_41|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0010963,MedGen:C1833021,OMIM:600965,Orphanet:90635|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:CN239410|MedGen:CN169374|MONDO:MONDO:0013673,MedGen:C3280358,OMIM:614296,Orphanet:411590|MONDO:MONDO:0009101,MedGen:C4551693,OMIM:222300,Orphanet:3463|MONDO:MONDO:0007287,MedGen:C3805412,OMIM:116400,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.223	.	0.0022	0.00219649	0.0041	9.823e-05	0.0006	0.0001	0.0009	0.0038	0.0045	0.0131	0.003771	583	154602	rs41264699	0.0038	0.0038	0.0035	0.0041	0.0119	0.0037	0.0037	0.0113	0.0110	0.0005	0.0011	0.0107	0.0001	0.0009	0.0078	0.0035	0.0034	0.0119	0.0027	0.0026	0.0024	0.0030	0.0079	0.0024	0.0024	0.0059	0.0052	0.0007	0.0011	0.0054	0.0110	0	0.0005	0	0.0030	0.0024	0.0079	0.052	0.39097	T	0.082	0.41573	T	0.913	0.50474	P	0.46	0.46423	P	0.000000	0.84330	D	0.050053	0.717381	0.33581	D	2.105	0.58435	M	-3.46	0.94508	D	-1.38	0.34198	N	0.693	0.69825	-0.3842	0.72521	T	0.267	0.63887	T	10	0.01354751	0.00287	T	.	.	.	0.695	0.88960	.	.	0.999708745645	0.99970	0.7779162348185018	0.77741	.	.	0.60329657793	0.53369	T	0.232688	0.59930	T	0.0206689	0.54471	T	0.267301	0.86438	D	0.0311735213702706	0.02174	T	0.818018	0.47523	T	0.194827	0.41247	0.18014714	0.40796	0.18951099	0.40496	0.15260497	0.35896	-8.994	0.67659	D	0.4012723928888879	0.49303	0.109	0.20819	B	.;.	.;.	3.675613	0.52287	23.2	0.99401278877500232	0.62794	0.84507	0.43589	D	AEFDBI	0.369685	0.45632	N	0.303570476880601	0.56333	3.79771	0.325647134561931	0.57053	3.869722	0.691805258640077	0.22597	0.706548	0.73137	0	0.633656	0.55848	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.72	3.44	0.38486	5.202000	0.65004	3.732000	0.39621	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8346:0.1654:0.0:0.0	10.299	0.42823	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.004076	0.017544	0.000000	0.008621	0.009146	0.041667	0.05	1796.43	38	chr4	6291313	.	A	C	1796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=509;ExcessHet=0;FS=5.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.129;SOR=1.123	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr4	6302180	6302180	-	GAC	exonic	WFS1	.	nonframeshift insertion	WFS1:NM_001145853:exon8:c.2385_2386insGAC:p.D797_V798insD,WFS1:NM_006005:exon8:c.2385_2386insGAC:p.D797_V798insD	Deafness, autosomal dominant 6/14/38, Autosomal dominant;Wolfram syndrome, Autosomal recessive;Wolfram-like syndrome, autosomal dominant, Autosomal dominant	0	1484	35	2	1	40	0.0129697	.	.	.	54621	WFS1-related_disorder|not_specified|not_provided	MONDO:MONDO:0700293,MedGen:CN379391|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	0.00179712	0.0019	0.0003	0.0006	0	0.0012	0.0013	0	0.0076	0.00073	19	26028	rs1414522372	0.0014	0.0014	0.0011	0.0017	0.0092	0.0014	0.0014	0.0087	0.0085	0.0001	0.0011	0.0012	0	0.0008	0.0061	0.0009	0.0017	0.0092	0.0012	0.0012	0.0010	0.0015	0.0079	0.0011	0.0010	0.0059	0.0052	0.0003	0	0.0025	0.0014	0.0002	0.0008	0.0136	0.0011	0.0019	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006552	0.000000	0.005435	0.005848	0.000000	0.008621	0.012195	0.011364	0.05	2110.39	95	chr4	6302180	.	G	GGAC	2110.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.759;DP=1093;ExcessHet=0;FS=6.955;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=0.475;SOR=1.299	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	9	0	1	0
chr4	6587110	6587110	A	G	exonic	MAN2B2	.	nonsynonymous SNV	MAN2B2:NM_001292038:exon4:c.A506G:p.N169S,MAN2B2:NM_015274:exon4:c.A506G:p.N169S	.	.	.	.	.	.	.	.	.	.	.	3288335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00484052899721	.	.	4.987e-05	0	8.67e-05	0	0	3.037e-05	0	0.0002	3.88e-05	6	154602	rs771068415	5.679e-05	5.678e-05	6.127e-05	5.226e-05	6.957e-05	4.677e-05	4.302e-05	4.9e-05	4.484e-05	0	2.236e-05	0	2.519e-05	0	0	6.115e-05	0.0001	6.957e-05	5.913e-05	5.91e-05	6.422e-05	5.379e-05	0.0002	3.077e-05	2.21e-05	3.761e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.819e-05	0	0.0002	0.015	0.53900	D	0.102	0.39340	T	0.548	0.38076	P	0.209	0.40336	B	0.072923	0.21378	N	0.525914	0.853843	0.35268	D	0.93	0.23535	L	2.0	0.21473	T	-3.03	0.64363	D	0.274	0.37509	-1.0448	0.15884	T	0.038	0.16246	T	10	0.19332683	0.35098	T	0.004841	0.12130	T	0.130	0.35528	.	.	0.249502417897	0.24576	0.4115132127704972	0.41067	0.15906184734	0.17949	0.351981312037	0.18214	T	0.304155	0.67647	T	-0.418099	0.01759	T	-0.601678	0.12670	T	0.170358054798086	0.18605	T	0.854615	0.54393	D	0.11596553	0.27358	0.15460588	0.36277	0.11596553	0.27358	0.15460588	0.36276	-6.399	0.49502	T	.	.	0.081	0.08129	B	.;.	.;.	1.599586	0.20451	14.75	0.97682159580847727	0.35323	0.87940	0.47658	D	AEFDBI	0.584056	0.58303	D	-0.314308948567797	0.28604	1.579077	-0.305832590228869	0.27910	1.552121	0.999419880762967	0.39577	0.706548	0.73137	0	0.643519	0.57511	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	2.9	0.32809	5.686000	0.67874	0.044000	0.13909	0.738000	0.86027	0.979000	0.35152	0.000000	0.08366	0.233000	0.22815	0.905:0.0:0.095:0.0	8.633	0.33092	982	0.03397	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1358.43	40	chr4	6587110	.	A	G	1358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.858;DP=491;ExcessHet=0;FS=0.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.639;SOR=0.606	GT:AD:DP:GQ:PL	0/1:99,67:166:99:1370,0,2180	9	0	1	0
chr4	6709563	6709563	C	T	exonic	MRFAP1L1	.	nonsynonymous SNV	MRFAP1L1:NM_203462:exon1:c.G67A:p.D23N	.	420	1067	34	1	0	36	0.0165899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0032	0.00479233	0.0058	0.0007	0.0010	0.0001	0.0014	0.0045	0.0055	0.0220	0.0053686	830	154602	rs141796381	0.0048	0.0048	0.0042	0.0053	0.0211	0.0047	0.0046	0.0203	0.0200	0.0007	0.0022	0.0140	0	0.0019	0.0205	0.0037	0.0051	0.0211	0.0034	0.0034	0.0032	0.0036	0.0166	0.0032	0.0031	0.0136	0.0126	0.0005	0	0.0039	0.0138	0.0006	0.0014	0.0204	0.0041	0.0057	0.0166	0.016	0.51853	D	0.0	0.92824	D	0.989	0.62824	D	0.866	0.61580	P	.	.	.	.	0.99428	0.23550	N	1.04	0.26193	L	.	.	.	-3.99	0.73893	D	0.4	0.44090	-1.0563	0.12698	T	0.106	0.38661	T	8	0.006687075	0.00152	T	.	.	.	0.091	0.26358	.	.	0.220303561663	0.21668	0.14553496378892716	0.14476	0.878159353935	0.69656	0.72418653965	0.70658	T	0.178239	0.52882	T	-0.551785	0.00285	T	-0.549121	0.17410	T	0.023983776895619	0.01143	T	0.888311	0.61778	D	0.3356027	0.55927	0.36901194	0.62180	0.3356027	0.55927	0.36901194	0.62180	-4.581	0.31932	T	.	.	0.877	0.81307	P	.	.	4.391097	0.67767	25.1	0.99818339770976816	0.90150	0.31398	0.24327	N	ALL	0.116110	0.22801	N	0.140459011898612	0.48361	3.049304	0.0471173455523818	0.41933	2.527646	0.999999999999767	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	2.72	2.72	0.31179	2.229000	0.42634	2.424000	0.32701	0.445000	0.21165	0.999000	0.42656	0.881000	0.27706	0.281000	0.24041	0.0:1.0:0.0:0.0	9.127	0.35985	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.009511	0.023392	0.000000	0.034483	0.009146	0.015152	0.05	1669.43	38	chr4	6709563	.	C	T	1669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=449;ExcessHet=0;FS=1.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.023;SOR=0.882	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1181	9	0	1	0
chr4	6716397	6716397	G	A	exonic	BLOC1S4	.	nonsynonymous SNV	BLOC1S4:NM_018366:exon1:c.G188A:p.R63H	.	404	1098	19	1	0	21	0.00947226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	.	0.00219649	0.0335	0	0	0	.	0.0263	0	0.0355	0.0004722	73	154602	rs530613836	0.0014	0.0014	0.0013	0.0015	0.0084	0.0013	0.0013	0.0075	0.0072	0.0001	0.0009	0.0005	7.484e-05	4.437e-05	0.0083	0.0012	0.0023	0.0084	0.0013	0.0013	0.0012	0.0013	0.0066	0.0011	0.0011	0.0048	0.0042	0.0004	0	0.0015	0.0003	0	0	0.0103	0.0017	0.0014	0.0066	0.325	0.13349	T	0.276	0.21947	T	0.093	0.25333	B	0.025	0.20508	B	0.230170	0.15938	U	0.629955	0.921875	0.36702	D	1.825	0.47900	L	0.9	0.45248	T	-0.21	0.10308	N	0.207	0.22998	-1.0106	0.26729	T	0.097	0.36289	T	10	0.005990088	0.00134	T	.	.	.	0.104	0.29647	.	.	0.580444438771	0.57715	0.13256733147620836	0.13180	1.94329033051	0.93261	0.928962111473	0.98928	D	0.072116	0.34374	T	-0.447204	0.01173	T	-0.408473	0.32402	T	0.0791250979842311	0.09874	T	0.635836	0.24975	T	0.10409883	0.24608	0.12060491	0.29105	0.10409883	0.24608	0.12060491	0.29104	-5.366	0.40591	T	.	.	0.222	0.45347	B	.	.	3.029452	0.40572	21.2	0.99658203332568307	0.77757	0.76243	0.37378	D	ALL	0.229917	0.35337	N	-0.146032904538573	0.35404	2.033092	-0.018294117063793	0.38890	2.297716	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	4.3	4.3	0.50540	1.467000	0.34930	6.634000	0.56161	0.486000	0.22242	0.960000	0.33603	1.000000	0.68203	0.299000	0.24476	0.0:0.0:1.0:0.0	12.636	0.56043	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003769	0.000000	0.000000	0.000000	0.000000	0.038462	0.000000	0.025641	0.05	717.43	39	chr4	6716397	.	G	A	717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.4;ReadPosRankSum=0.137;SOR=0.616	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1121	9	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:99,34:133:99:195,0,2084	1	0	9	0
chr4	7819138	7819138	G	A	exonic	AFAP1	.	nonsynonymous SNV	AFAP1:NM_001371090:exon6:c.C760T:p.P254S,AFAP1:NM_001134647:exon7:c.C760T:p.P254S,AFAP1:NM_198595:exon7:c.C760T:p.P254S,AFAP1:NM_001371091:exon8:c.C760T:p.P254S	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0025437755433	.	.	8.297e-06	0	0	0	0	1.504e-05	0	0	6.5e-06	1	154602	rs779413112	2.053e-06	2.736e-06	2.723e-06	1.376e-06	0.0005	5.5e-07	1.5e-07	0.0001	7.552e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.21066	T	0.625	0.07316	T	0.015	0.17086	B	0.005	0.11217	B	0.330087	0.14128	N	0.698379	1	0.08975	N	0.895	0.22405	L	2.56	0.13795	T	0.09	0.14782	N	0.203	0.24260	-0.9808	0.34817	T	0.017	0.06855	T	10	0.055774003	0.06147	T	0.002544	0.05093	T	0.007	0.00512	0.2	0.11384	0.0666544352282	0.05500	0.0964112601562412	0.09573	0.0904232306126	0.10200	0.341858267784	0.16716	T	0.009446	0.08603	T	-0.285748	0.10067	T	-0.648233	0.09078	T	0.0383307535885547	0.03391	T	0.706929	0.31753	T	0.016438875	0.00198	0.026389072	0.00725	0.016438875	0.00198	0.026389072	0.00725	-1.98	0.03246	T	.	.	0.067	0.03162	B	.;.;.;.	.;.;.;.	0.889475	0.12628	9.155	0.44441515528364606	0.03417	0.09127	0.14945	N	AEFDBI	0.050051	0.08709	N	-1.0827757402431	0.06961	0.3219406	-1.07892277511553	0.08116	0.3976462	0.999645466995914	0.41316	0.706548	0.73137	0	0.563428	0.19063	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.52	1.23	0.20358	0.772000	0.26309	3.025000	0.36018	-0.154000	0.11915	0.007000	0.17678	0.977000	0.30130	0.002000	0.04165	0.0802:0.2098:0.2627:0.4472	3.205	0.06265	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1034.43	35	chr4	7819138	.	G	A	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.324;DP=425;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.016;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	9	0	1	0
chr4	8227654	8227654	C	T	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.C1732T:p.R578W,SH3TC1:NM_018986:exon12:c.C1960T:p.R654W	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.199094447475	0.0020	0.00119808	0.0025	0.0003	0.0009	0.0005	0.0044	0.0030	0.0061	0.0028	0.0020181	312	154602	rs143156603	0.0027	0.0027	0.0026	0.0028	0.0029	0.0026	0.0026	0.0028	0.0027	0.0005	0.0009	0.0030	7.696e-05	0.0040	0.0017	0.0029	0.0022	0.0027	0.0020	0.0020	0.0020	0.0020	0.0029	0.0018	0.0018	0.0025	0.0024	0.0007	0	0.0007	0.0035	0.0002	0.0046	0.0068	0.0029	0.0009	0.0023	0.053	0.38863	T	0.089	0.40426	T	0.027	0.19556	B	0.019	0.18783	B	0.142116	0.18254	N	0.539872	0.999701	0.20909	N	1.195	0.30194	L	-0.43	0.69657	T	-4.94	0.81835	D	0.181	0.19593	-0.9771	0.35660	T	0.185	0.53481	T	10	0.011574805	0.00252	T	0.199094	0.86632	D	0.200	0.48430	.	.	0.462200489575	0.45844	0.5092638575096742	0.50848	0.0271289346676	0.02770	0.386989951134	0.23245	T	0.051619	0.28930	T	-0.476178	0.00779	T	-0.460451	0.26549	T	0.0141301882724852	0.00276	T	0.511449	0.16356	T	0.055430505	0.10772	0.075712375	0.16697	0.055430505	0.10771	0.075712375	0.16697	-2.938	0.09528	T	.	.	0.073	0.04477	B	.	.	-0.517110	0.01813	0.142	0.67960163728057144	0.08512	0.35986	0.25429	N	AEFDBCI	0.343698	0.43943	N	-1.87150240733808	0.00393	0.01688169	-1.99697812497855	0.00311	0.01372018	0.999999999564945	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.578056	0.29568	0	0.636168	0.56350	0	.	.	4.16	-8.32	0.00873	0.351000	0.19834	-1.129000	0.06244	-3.736000	0.00063	0.405000	0.26210	0.000000	0.08366	0.001000	0.02609	0.1983:0.4809:0.0603:0.2604	4.473	0.11139	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005045	0.000000	0.004087	0.000000	0.000000	0.000000	0.006135	0.018939	0.05	1056.43	71	chr4	8227654	.	C	T	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.849;DP=581;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=0.312;SOR=0.844	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr4	8233514	8233514	G	A	splicing	SH3TC1	NM_018986:exon14:c.3282+1G>A;NM_001318480:exon14:c.3054+1G>A	.	.	.	425	1070	26	1	0	28	0.0129151	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00239617	0.0057	0.0009	0.0057	0	0.0011	0.0066	0.0048	0.0107	0.0052005	804	154602	rs62286463	0.0060	0.0060	0.0059	0.0061	0.0153	0.0059	0.0059	0.0126	0.0116	0.0014	0.0043	0.0150	0	0.0014	0.0153	0.0059	0.0078	0.0108	0.0040	0.0040	0.0041	0.0039	0.0108	0.0037	0.0036	0.0084	0.0076	0.0008	0.0143	0.0031	0.0121	0	0.0008	0.0136	0.0059	0.0057	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0158123	0.49447	T	0.212472	0.83792	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.165318	0.86564	28.9	0.99380838904050006	0.61891	0.98041	0.79102	D	AEFGBCI	.	.	.	1.0172895395832	0.96252	14.47503	0.801970913417976	0.89929	10.18212	0.999999999999901	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.060301	0.00762	0	0.195515	0.04268	0	0.887185	0.55460	3.49	3.49	0.39065	9.134000	0.93746	7.080000	0.57469	0.629000	0.51854	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	15.367	0.74244	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1721.43	34	chr4	8233514	.	G	A	1721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.537;DP=424;ExcessHet=0;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=0.255;SOR=1.13	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr4	8441412	8441412	C	G	exonic	TRMT44	.	nonsynonymous SNV	TRMT44:NM_152544:exon1:c.C590G:p.T197R	.	427	1009	83	3	0	89	0.0422402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00858626	0.0287	0.0080	0.0065	0.0058	0.0031	0.0195	0.0260	0.0450	0.0037839	585	154602	rs112997829	0.0105	0.0100	0.0098	0.0112	0.0346	0.0104	0.0103	0.0335	0.0331	0.0047	0.0060	0.0151	0.0001	0.0019	0.0304	0.0095	0.0109	0.0346	0.0085	0.0085	0.0080	0.0090	0.0288	0.0081	0.0080	0.0249	0.0234	0.0056	0.0493	0.0099	0.0127	0.0002	0.0012	0.0204	0.0094	0.0118	0.0288	0.447	0.09075	T	0.378	0.16086	T	.	.	.	.	.	.	0.121706	0.02731	N	1.885000	1	0.08975	N	0.955	0.23872	L	2.2	0.18570	T	-1.36	0.33798	N	0.043	0.01577	-1.0113	0.26510	T	0.027	0.11574	T	8	0.002782017	0.00044	T	.	.	.	0.028	0.06331	.	.	.	.	0.3895442264070437	0.38869	0.0237363171192	0.02403	0.470437943935	0.34740	T	0.006277	0.05717	T	-0.596178	0.00154	T	-0.604077	0.12471	T	0.00130142170890971	0.00013	T	0.359464	0.08250	T	0.03544278	0.04172	0.06397814	0.12754	0.03544278	0.04171	0.06397814	0.12754	-4.308	0.28288	T	.	.	0.087	0.11220	B	.	.	0.493478	0.08624	5.396	0.77617184845155829	0.11951	0.02881	0.07661	N	AEFDBCI	0.028691	0.02576	N	-0.716175274960565	0.15567	0.7856458	-0.836457000307403	0.13614	0.7071644	0.999956225536474	0.48110	0.542737	0.22433	0	0.484254	0.07192	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.1	1.29	0.20717	0.469000	0.21779	0.422000	0.18230	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.567:0.3378:0.0952	7.467	0.26500	949	0.11373	.	RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|RP11-774O3.3|ACOX3|RP11-774O3.3|RP11-774O3.3	Adipose_Subcutaneous|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid	.	.	rs112997829	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016710	0.000000	0.007353	0.012048	0.000000	0.000000	0.023529	0.021277	0.1	2880.14	39	chr4	8441412	.	C	G	2880.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.036;DP=571;ExcessHet=0.2348;FS=0.944;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.879;SOR=0.614	GT:AD:DP:GQ:PL	0/1:71,65:136:99:1486,0,1666	8	0	2	0
chr4	8581311	8581311	T	C	exonic	GPR78	.	nonsynonymous SNV	GPR78:NM_080819:exon1:c.T329C:p.F110S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.00944174919223	.	.	1.538e-05	0	0	0	0	2.811e-05	0	0	6.5e-06	1	154602	rs773750185	1.397e-06	4.104e-06	1.387e-06	1.406e-06	1.812e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.812e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.0	0.92824	D	0.996	0.68779	D	0.97	0.72226	D	0.000000	0.84330	U	0.000000	0.99967	0.48205	D	1.89	0.50145	L	1.18	0.37746	T	-3.56	0.68880	D	0.669	0.67736	-0.9754	0.36037	T	0.149	0.47593	T	10	0.90260184	0.89623	D	0.009442	0.24739	T	0.286	0.60456	0.792	0.91365	0.702741401759	0.70016	0.5576548319406365	0.55692	0.368310320009	0.38387	0.71000701189	0.68595	T	0.122969	0.44700	T	0.056395	0.59159	T	-0.156769	0.58642	T	0.963042557239532	0.66543	D	0.872513	0.57956	D	0.49693742	0.66914	0.556324	0.74337	0.49693742	0.66915	0.556324	0.74338	-4.587	0.32008	T	.	.	0.577	0.67923	P	.	.	2.613424	0.33945	19.49	0.99587140328460921	0.73395	0.03917	0.09303	N	AEFDBCI	0.510961	0.53979	D	-0.0734106833104985	0.38563	2.260405	-0.270627158422275	0.29070	1.625823	0.999999271228531	0.74766	0.437478	0.07067	0	0.547309	0.14657	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	2.5	2.5	0.29355	3.905000	0.56046	0.168000	0.15485	0.502000	0.22824	1.000000	0.71638	0.000000	0.08366	0.015000	0.10482	0.0:0.0:0.0:1.0	9.424	0.37733	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	542.43	34	chr4	8581311	.	T	C	542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.178;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-1.545;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1009	9	0	1	0
chr4	8604114	8604114	G	A	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon3:c.G602A:p.S201N,CPZ:NM_001014447:exon4:c.G635A:p.S212N,CPZ:NM_001014448:exon4:c.G224A:p.S75N	.	422	1078	21	1	0	23	0.0105553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0007	0.000599042	0.0016	0.0002	0.0020	0.0002	0	0.0020	0.0119	0.0015	0.0010284	159	154602	rs143281934	0.0012	0.0012	0.0012	0.0012	0.0247	0.0012	0.0011	0.0214	0.0201	0.0008	0.0010	0.0005	2.557e-05	0	0.0247	0.0012	0.0026	0.0009	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0016	0.0009	0	0	0.0136	0.0011	0.0052	0.0012	0.146	0.26519	T	0.137	0.36233	T	0.384	0.62325	B	0.175	0.50320	B	0.000000	0.84330	D	0.045184	0.999989	0.81001	D	2.325	0.66631	M	2.71	0.12055	T	-1.73	0.41046	N	0.717	0.77319	-1.0816	0.07041	T	0.055	0.23224	T	10	0.049276263	0.04494	T	.	.	.	0.102	0.29158	.	.	0.12205267543	0.11705	0.7750065254046804	0.77450	0.0119562494759	0.01133	0.662676036358	0.61792	T	0.053015	0.29325	T	-0.401507	0.02263	T	-0.384891	0.35148	T	0.196342617273331	0.20211	T	0.758124	0.38180	T	0.52383	0.68479	0.47627032	0.69653	0.52383	0.68480	0.47627032	0.69654	-9.192	0.68924	D	0.2593065449522952	0.35027	0.317	0.55978	B	.;.;.	.;.;.	3.651758	0.51831	23.2	0.99622072563463493	0.75473	0.81987	0.41287	D	AEFDBHCI	0.784555	0.71520	D	0.293067813208489	0.55797	3.743764	0.311107533820842	0.56190	3.782178	0.999999838434281	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	3.86	3.86	0.43689	5.780000	0.68607	8.162000	0.76739	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	15.937	0.79512	982	0.03397	Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020855	0.010417	0.020492	0.058824	0.050000	0.017241	0.006211	0.007634	0.05	1053.43	61	chr4	8604114	.	G	A	1053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.308;SOR=0.757	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1205	9	0	1	0
chr4	8614433	8614433	C	G	exonic	CPZ	.	nonsynonymous SNV	CPZ:NM_003652:exon8:c.C1405G:p.P469A,CPZ:NM_001014447:exon9:c.C1438G:p.P480A,CPZ:NM_001014448:exon9:c.C1027G:p.P343A	.	427	1067	28	0	0	28	0.012951	.	.	.	3214362	CPZ-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.228	0.00259388436412	0.0073	0.00299521	0.0051	0.0089	0.0045	0	0	0.0063	0.0066	0.0030	0.0048253	746	154602	rs144878756	0.0049	0.0049	0.0049	0.0049	0.0276	0.0048	0.0048	0.0241	0.0227	0.0101	0.0069	0.0251	0	0.0001	0.0276	0.0045	0.0062	0.0033	0.0067	0.0067	0.0069	0.0066	0.0104	0.0064	0.0062	0.0091	0.0086	0.0089	0	0.0104	0.0265	0	0	0.0476	0.0052	0.0090	0.0029	0.375	0.11882	T	0.514	0.10930	T	0.042	0.21471	B	0.01	0.14941	B	0.000602	0.42945	D	0.238755	1	0.08975	N	1.68	0.43186	L	3.6	0.04494	T	-4.04	0.75615	D	0.381	0.44570	-0.9944	0.31459	T	0.014	0.05561	T	10	0.010112196	0.00226	T	0.002594	0.05235	T	0.228	0.52768	.	.	0.466991082792	0.46324	0.5021876389927722	0.50140	0.00390315856912	0.00340	0.433511316776	0.29689	T	0.151591	0.49161	T	-0.472502	0.00820	T	-0.440462	0.28757	T	0.0101249365468774	0.00136	T	0.775922	0.40781	T	0.15195194	0.34517	0.12209534	0.29454	0.18366434	0.39645	0.12209534	0.29454	-5.791	0.46431	T	0.10332189919655888	0.07954	0.070	0.03443	B	.;.;.	.;.;.	1.263735	0.16619	12.66	0.92042564288634698	0.21384	0.10239	0.15801	N	AEFDBCI	0.205368	0.33172	N	-0.573136651120873	0.19764	1.036938	-0.46347791261759	0.23167	1.262043	0.0602294326409206	0.15190	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.75	4.75	0.59954	0.132000	0.15716	3.098000	0.36308	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.359000	0.25863	0.163:0.6972:0.0:0.1399	6.247	0.20033	982	0.03397	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Metallocarboxypeptidase Z, carboxypeptidase domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1613.43	138	chr4	8614433	.	C	G	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.141;DP=1587;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.267;SOR=0.747	GT:AD:DP:GQ:PL	0/0:153,0:153:99:0,120,1800	9	0	1	0
chr4	9210670	9210670	C	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.C14T:p.S5L	.	643	861	18	0	0	18	0.0103448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00184707356736	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340593482	0.0044	0.0051	0.0048	0.0041	0.0120	0.0043	0.0042	0.0102	0.0095	0.0120	0.0037	0.0085	0	0.0011	0.0097	0.0050	0.0053	0.0009	0.0017	0.0036	0.0013	0.0021	0.0052	0.0013	0.0011	0.0030	0.0024	0.0052	0	0.0003	0.0079	0	0.0009	0	0.0015	0	0	0.031	0.47320	D	0.125	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.085	0.57729	M	2.52	0.14160	T	-2.73	0.58085	D	0.323	0.37509	-0.9818	0.34585	T	0.025	0.10821	T	6	0.033656865	0.01548	T	0.001847	0.03219	T	0.036	0.09122	.	.	0.322786055943	0.31880	0.04579852210910664	0.04523	.	.	0.514024615288	0.40785	T	0.087941	0.38051	T	-0.24461	0.14766	T	-0.589142	0.13739	T	0.15483632683754	0.17481	T	0.769523	0.39899	T	0.10880445	0.25726	0.19436768	0.43056	0.10880445	0.25726	0.19436768	0.43055	-3.227	0.12813	T	.	.	0.121	0.25000	B	.;.	.;.	1.973377	0.25071	16.63	0.99044905824973817	0.51118	0.00327	0.01711	N	AEFI	0.028088	0.02410	N	-0.726527465281989	0.15278	0.7685985	-0.904519714212325	0.11988	0.614034	1.10929142332891E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.343000	0.19686	.	.	0.397000	0.20528	0.862000	0.30648	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	394.78	33	chr4	9210670	.	C	T	394.78	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.587;DP=810;ExcessHet=0;FS=0.501;MLEAC=1;MLEAF=0.063;MQ=33.23;MQRankSum=3.39;QD=1.02;ReadPosRankSum=2.06;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1108	7	0	1	2
chr4	9211747	9211747	G	C	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1091C:p.S364T	.	1174	336	2	10	0	22	0.0317003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00494424693079	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs767608503	0.0002	0.0082	0.0003	0.0002	0.0078	0.0002	0.0001	0.0034	0.0023	0.0078	0	0	0.0002	0	0.0031	0.0001	0	0.0006	5.137e-05	0.0033	0.0001	0	9.074e-05	0	0	.	.	0	0	0	0	0	0	0	9.074e-05	0	0	0.076	0.34269	T	0.054	0.48855	T	.	.	.	.	.	.	0.028604	0.25577	N	0.364420	1	0.81001	D	1.835	0.48228	L	1.44	0.32722	T	-1.96	0.45404	N	0.159	0.16586	-1.0508	0.14175	T	0.063	0.26244	T	6	0.003203094	0.00054	T	0.004944	0.12442	T	0.081	0.23632	.	.	0.115124310173	0.11017	0.003919566913084639	0.00366	.	.	0.562705755234	0.47649	T	0.008268	0.07601	T	-0.704426	0.00034	T	-0.640815	0.09609	T	0.0273817175275639	0.01599	T	0.671133	0.27986	T	0.13559984	0.31465	0.17054746	0.39172	0.13559984	0.31465	0.17054746	0.39171	-6.914	0.53403	T	.	.	0.119	0.24430	B	.;.	.;.	2.086132	0.26537	17.15	0.96272064017356607	0.29254	0.17629	0.19919	N	AEFI	0.075364	0.15131	N	-0.536111108855572	0.20921	1.106491	-0.696549762316435	0.17046	0.9046486	1.109225597663E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.028000	0.13533	.	.	-0.732000	0.03721	0.048000	0.21332	0.000000	0.08366	0.226000	0.22626	.	.	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	40.95	.	chr4	9211747	.	G	C	40.95	.	AC=2;AF=0.333;AN=6;DP=55;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=40;QD=20.48;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:6:0,6,90	2	1	0	7
chr4	9211832	9211832	A	T	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.A1176T:p.R392S	.	1163	356	1	2	0	5	0.0069735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	.	0.0025	0.1053	0	0	0	0.0026	0	0	3.84e-05	1	26028	rs772527028	0.0003	0.0029	0.0003	0.0002	0.0032	0.0002	0.0002	0.0011	0.0006	0.0032	0.0002	0	0	0.0002	0	0.0003	0	0.0002	0	0.0012	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.594	0.05737	T	0.711	0.05506	T	.	.	.	.	.	.	0.017419	0.01465	N	2.715260	0.999997	0.08975	N	-0.305	0.03614	N	1.06	0.39781	T	0.51	0.04091	N	0.167	0.17691	-1.0474	0.15130	T	0.058	0.24279	T	6	0.0042978525	0.00086	T	.	.	.	0.048	0.13305	0.285	0.24280	0.0954503805726	0.09146	0.007080721645171505	0.00675	.	.	0.442511886358	0.30920	T	0.002047	0.01452	T	-0.311873	0.07584	T	-0.68576	0.06637	T	0.00190084663201817	0.00019	T	0.413759	0.10783	T	0.11266872	0.26616	0.08962535	0.20969	0.11266872	0.26616	0.08962535	0.20968	-3.599	0.17842	T	.	.	0.149	0.32874	B	.;.	.;.	0.334718	0.07086	3.657	0.71546181859456126	0.09666	0.03471	0.08627	N	AEFI	0.037047	0.05032	N	-0.82370369791333	0.12706	0.6210558	-0.984100776170731	0.10142	0.5089458	2.19530635383511E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	0.544000	0.22960	.	.	-0.492000	0.05042	0.011000	0.18532	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	40.95	.	chr4	9211832	.	A	T	40.95	.	AC=2;AF=0.333;AN=6;DP=50;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=42.5;QD=20.48;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	7
chr4	9211845	9211845	G	A	exonic	USP17L10	.	nonsynonymous SNV	USP17L10:NM_001256852:exon1:c.G1189A:p.E397K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00139595167932	.	.	0.0003	0	0.0034	0	0	0	0	0	7.68e-05	2	26028	rs371252430	2.614e-05	0.0005	5.338e-05	0	0.0002	1.039e-05	7.17e-06	3.105e-05	1.285e-05	0	0.0002	0	0	0	0	2.413e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.109	0.30235	T	0.433	0.13832	T	.	.	.	.	.	.	.	.	.	.	0.999931	0.19363	N	1.085	0.27262	L	0.8	0.48769	T	-1.11	0.34198	N	0.16	0.17416	-0.9772	0.35638	T	0.120	0.42015	T	5	0.01729542	0.00368	T	0.001396	0.02037	T	0.015	0.02232	0.453	0.51612	0.0806252709748	0.07271	0.009975585883841379	0.00959	.	.	0.537613272667	0.44108	T	0.005585	0.05032	T	-0.274341	0.11279	T	-0.631848	0.10275	T	0.0418710922667544	0.04031	T	0.653935	0.26417	T	0.1187723	0.27977	0.11002147	0.26524	0.1187723	0.27977	0.11002147	0.26524	-3.885	0.22077	T	.	.	0.087	0.11172	B	.;.	.;.	1.276994	0.16762	12.75	0.9267756965072883	0.22162	0.01135	0.04122	N	AEFI	0.024659	0.01562	N	-0.740137483683515	0.14903	0.7463763	-0.971304394705442	0.10433	0.5254308	3.04856071153045E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.337	0.337	0.15206	1.800000	0.38469	.	.	0.443000	0.21123	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	40.47	.	chr4	9211845	.	G	A	40.47	.	AC=2;AF=0.333;AN=6;DP=52;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=42.5;QD=20.23;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	7
chr4	9226129	9226129	C	T	exonic	USP17L13	.	nonsynonymous SNV	USP17L13:NM_001256855:exon1:c.C1234T:p.H412Y	.	1337	175	2	8	0	18	0.048913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.842182873596	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1352095428	5.868e-05	0.0024	8.868e-05	3.5e-05	0.0007	1.557e-05	8.32e-06	0.0002	9.768e-05	0	0	0	0.0007	0	0	0	0	0	0	0.0032	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.055	0.38407	T	0.049	0.48336	D	.	.	.	.	.	.	0.058808	0.02114	U	2.375910	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	-0.75	0.21003	N	0.113	0.10198	-1.0362	0.18481	T	0.057	0.24055	T	6	0.013407707	0.00284	T	0.842183	0.98780	D	0.027	0.05988	.	.	0.0482279557977	0.04254	0.005879309056523569	0.00556	.	.	0.549284934998	0.45757	T	0.023407	0.17873	T	-0.308109	0.07916	T	-0.680353	0.06962	T	0.0406788719680613	0.03814	T	0.541546	0.18382	T	0.09593988	0.22589	0.11165587	0.26935	0.09593988	0.22588	0.11165587	0.26934	-4.279	0.27881	T	.	.	0.076	0.06069	B	.;.	.;.	0.741014	0.11106	7.751	0.96431718351580964	0.29796	0.00243	0.01347	N	AEFI	0.035750	0.04652	N	-0.915193225831661	0.10487	0.501334	-1.08534414720929	0.07988	0.3908381	1.09666439460031E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.055000	0.14112	.	.	0.055000	0.17525	0.026000	0.20160	0.003000	0.18671	0.029000	0.12982	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	39.8	.	chr4	9226129	.	C	T	39.8	.	AC=2;AF=0.2;AN=10;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=40;QD=19.9;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	5
chr4	9226157	9226157	A	G	exonic	USP17L13	.	nonsynonymous SNV	USP17L13:NM_001256855:exon1:c.A1262G:p.D421G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.599055312477	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175330135	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.536	0.06891	T	0.768	0.05434	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	0.99	0.41750	T	-1.22	0.30964	N	0.051	0.03956	-1.0440	0.16118	T	0.034	0.14596	T	6	0.06575069	0.08918	T	0.599055	0.96463	D	0.016	0.02506	.	.	0.0611884634855	0.05136	0.018758310991436537	0.01829	.	.	0.485092431307	0.36759	T	0.010017	0.09079	T	-0.372288	0.03480	T	-0.772542	0.02686	T	0.0353665498982741	0.02870	T	0.578142	0.20837	T	0.07410182	0.16605	0.14455462	0.34315	0.07410182	0.16605	0.14455462	0.34314	-2.939	0.09538	T	.	.	0.071	0.04041	B	.;.	.;.	1.341106	0.17474	13.19	0.15104819626117053	0.00357	0.00025	0.00253	N	AEFI	0.019320	0.00660	N	-1.5249128527373	0.01687	0.07382207	-1.6877435783916	0.01192	0.05367243	5.93355805240443E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.046	-0.093	0.12988	-0.735000	0.04992	.	.	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	39.49	.	chr4	9226157	.	A	G	39.49	.	AC=2;AF=0.2;AN=10;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=40;QD=19.75;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	5
chr4	9245119	9245119	G	T	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G1241T:p.C414F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.736491041037	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218482728	0.0013	0.0048	0.0012	0.0014	0.0060	0.0012	0.0012	0.0048	0.0044	0.0060	0.0015	0.0013	0.0018	0.0003	0.0006	0.0009	0.0018	0.0025	0.0017	0.0046	0.0019	0.0016	0.0028	0.0015	0.0014	0.0023	0.0020	0.0028	0.0056	0.0012	0.0024	0.0022	0.0012	0	0.0008	0	0.0011	0.104	0.29959	T	0.133	0.34959	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	1.01	0.41058	T	-1.81	0.42575	N	0.086	0.06720	-1.0031	0.29021	T	0.078	0.31133	T	6	0.10945159	0.20418	T	0.736491	0.97885	D	0.022	0.04323	0.199	0.11247	0.356897458496	0.35304	0.006975331918423807	0.00664	.	.	0.503815054893	0.39358	T	0.027017	0.19873	T	-0.251895	0.13867	T	-0.599606	0.12845	T	0.0402960604124247	0.03744	T	0.458654	0.13238	T	0.13310283	0.30969	0.14533089	0.34472	0.13310283	0.30969	0.14533089	0.34471	-3.922	0.22632	T	.	.	0.074	0.05060	B	.;.	.;.	0.994400	0.13725	10.27	0.82222698054279941	0.14081	0.00140	0.00856	N	AEFI	0.038836	0.05555	N	-0.888670902270931	0.11112	0.5344696	-1.12377548668543	0.07247	0.3518266	1.37127515313601E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.36	-0.72	0.10631	-0.938000	0.04047	.	.	0.297000	0.18867	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.31	8	chr4	9245119	.	G	T	31.31	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.431;DP=78;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=22.06;MQRankSum=0.674;QD=7.83;ReadPosRankSum=-0.674;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,130	8	0	1	1
chr4	10507985	10507985	C	A	exonic	CLNK	.	stopgain	CLNK:NM_052964:exon17:c.G958T:p.E320X	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.99e-05	0	0	0	0	6.859e-05	0.0015	0	3.88e-05	6	154602	rs781050849	2.058e-05	2.189e-05	1.909e-05	2.208e-05	0.0003	1.46e-05	1.267e-05	6.101e-05	2.525e-05	0	4.516e-05	0	0	0	0.0003	1.621e-05	4.974e-05	5.887e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.002423	0.36574	N	0.186264	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.36	0.42443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467405	0.93233	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.510294	0.97656	37	0.99718960150889779	0.81914	0.89344	0.49752	D	AEFBI	0.119713	0.23352	N	0.908259541142344	0.92159	11.26544	0.704380135738931	0.82711	7.835269	0.98467495234756	0.30756	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	4.379000	0.59342	5.927000	0.51257	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.063000	0.16184	0.0:1.0:0.0:0.0	14.906	0.70358	773	0.48803	SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain;SH2 domain|SH2 domain|SH2 domain|SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1542.43	106	chr4	10507985	.	C	A	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.869;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.129;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	9	0	1	0
chr4	13602381	13602381	T	C	exonic	BOD1L1	.	nonsynonymous SNV	BOD1L1:NM_148894:exon10:c.A4519G:p.T1507A	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	.	0.00319489	0.0023	0	8.687e-05	0	0	1.503e-05	0	0.0169	0.0019857	307	154602	rs200912665	0.0009	0.0009	0.0006	0.0013	0.0154	0.0009	0.0009	0.0147	0.0144	2.987e-05	4.472e-05	0	5.038e-05	0	0.0010	5.396e-06	0.0007	0.0154	0.0004	0.0004	0.0003	0.0006	0.0133	0.0004	0.0003	0.0107	0.0097	0	0	0.0001	0	0.0002	0	0	0	0.0005	0.0133	0.929	0.02256	T	0.172	0.30241	T	0.0	0.02946	B	0.001	0.04355	B	0.235754	0.03549	N	1.592130	1	0.08975	N	-0.6	0.02229	N	3.11	0.08194	T	-0.05	0.07736	N	0.027	0.00571	-0.9558	0.39952	T	0.011	0.04274	T	10	0.002976656	0.00048	T	.	.	.	0.002	0.00045	0.184	0.09259	0.0675242888579	0.06100	0.09269440287045645	0.09201	0.0457679641949	0.04968	0.234481781721	0.02315	T	0.009146	0.08348	T	-0.744505	0.00019	T	-0.829233	0.01276	T	0.00442392337037783	0.00047	T	0.237376	0.03328	T	0.10197152	0.24092	0.030716535	0.01562	0.10197152	0.24092	0.030716535	0.01562	-3.424	0.15381	T	.	.	0.07	0.03479	B	.	.	-1.285140	0.00451	0.009	0.26684279354294516	0.01290	0.04549	0.10187	N	AEFGBCI	0.019036	0.00626	N	-1.36609782803814	0.02962	0.1315726	-1.32271734437742	0.04138	0.1945392	0.996523328275045	0.34806	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.23	0.47	0.15957	-0.286000	0.08433	-4.677000	0.02038	-0.870000	0.02561	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3786:0.0:0.6214	8.177	0.30446	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1978.43	34	chr4	13602381	.	T	C	1978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.232;DP=688;ExcessHet=0;FS=0.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.048;SOR=0.785	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	9	0	1	0
chr4	15003452	15003452	C	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.C779A:p.P260Q,CPEB2:NM_001177382:exon1:c.C779A:p.P260Q,CPEB2:NM_001177383:exon1:c.C779A:p.P260Q,CPEB2:NM_001177384:exon1:c.C779A:p.P260Q,CPEB2:NM_182485:exon1:c.C779A:p.P260Q,CPEB2:NM_182646:exon1:c.C779A:p.P260Q	.	404	1115	3	0	0	3	0.00134348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.000798722	0.0104	0	0	.	.	0.0333	0.1	0.0067	0.0005045	78	154602	rs537061668	0.0065	0.0059	0.0065	0.0066	0.0071	0.0064	0.0064	0.0070	0.0069	0.0009	0.0022	0.0059	0	0.0097	0.0014	0.0071	0.0053	0.0021	0.0057	0.0057	0.0059	0.0054	0.0093	0.0054	0.0052	0.0087	0.0085	0.0018	0.0099	0.0014	0.0049	0	0.0082	0.0034	0.0093	0.0028	0.0027	0.278	0.15613	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999784	0.20372	N	.	.	.	0.56	0.54540	T	-0.38	0.14000	N	0.115	0.11912	-1.0375	0.18078	T	0.067	0.27468	T	7	0.0047171116	0.00099	T	.	.	.	0.026	0.05648	.	.	0.151262610727	0.14761	0.16694878466902682	0.16614	0.296207634344	0.32004	0.813390254974	0.84013	D	.	.	.	-0.601185	0.00143	T	-0.625306	0.10773	T	0.00839786589639127	0.00101	T	.	.	.	.	.	.	.	.	.	.	.	-4.36	0.29010	T	.	.	0.067	0.13127	B	.;.	.;.	1.827806	0.23222	15.93	0.92489614042115387	0.21923	0.00749	0.03116	N	ALL	0.042349	0.06559	N	-0.707538709865783	0.15809	0.8000295	-0.788237943674239	0.14783	0.7742541	0.99999972090335	0.74766	0.623204	0.39778	0	0.218748	0.04544	0	0.378051	0.06126	2	0.249971	0.05119	0	.	.	2.09	-0.107	0.12930	-0.723000	0.05056	1.575000	0.27440	-0.584000	0.04686	0.000000	0.06391	1.000000	0.68203	0.794000	0.37478	0.4712:0.3624:0.0:0.1664	2.858	0.05235	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002950	0.014706	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	295.43	36	chr4	15003452	.	C	A	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=312;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.415;SOR=0.34	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	9	0	1	0
chr4	15003544	15003544	G	T	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G871T:p.G291C,CPEB2:NM_001177382:exon1:c.G871T:p.G291C,CPEB2:NM_001177383:exon1:c.G871T:p.G291C,CPEB2:NM_001177384:exon1:c.G871T:p.G291C,CPEB2:NM_182485:exon1:c.G871T:p.G291C,CPEB2:NM_182646:exon1:c.G871T:p.G291C	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.49066394509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	0.995894	0.23172	N	.	.	.	0.42	0.56937	T	-1.54	0.38345	N	0.196	0.27435	-1.0233	0.22638	T	0.079	0.31466	T	7	0.17611933	0.32579	T	0.490664	0.94993	D	0.023	0.04649	0.312	0.28612	0.250512400709	0.24649	0.40058756321903216	0.39973	0.338184895751	0.35792	0.868773818016	0.92392	D	.	.	.	-0.106782	0.35302	T	-0.391162	0.34415	T	0.843504011631012	0.49616	D	.	.	.	.	.	.	.	.	.	.	.	-6.052	0.47010	T	.	.	0.175	0.51592	B	.;.	.;.	3.542729	0.49765	22.8	0.99275153735101374	0.57696	0.25403	0.22688	N	AEFDBHCIJ	0.208079	0.33419	N	-0.253573131990415	0.30961	1.731397	-0.252200553237577	0.29695	1.665794	0.999999906504315	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	1.453000	0.34778	6.976000	0.57108	0.465000	0.21702	0.006000	0.17386	1.000000	0.68203	0.949000	0.49496	0.1873:0.0:0.8127:0.0	4.872	0.12993	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2307.43	41	chr4	15003544	.	G	T	2307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.488;DP=458;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.911;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	9	0	1	0
chr4	15003545	15003545	G	A	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G872A:p.G291D,CPEB2:NM_001177382:exon1:c.G872A:p.G291D,CPEB2:NM_001177383:exon1:c.G872A:p.G291D,CPEB2:NM_001177384:exon1:c.G872A:p.G291D,CPEB2:NM_182485:exon1:c.G872A:p.G291D,CPEB2:NM_182646:exon1:c.G872A:p.G291D	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.428652719078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.779e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.465	0.28669	T	.	.	.	.	.	.	.	.	.	.	0.997591	0.22593	N	.	.	.	0.46	0.56281	T	-1.07	0.28703	N	0.137	0.22614	-0.9798	0.35048	T	0.094	0.35524	T	7	0.16893393	0.31473	T	0.428653	0.93937	D	0.039	0.10176	0.194	0.10571	0.372491666437	0.36864	0.4038894716943685	0.40304	0.411933081622	0.41941	0.877690434456	0.93648	D	.	.	.	-0.106938	0.35274	T	-0.391385	0.34390	T	0.707441031932831	0.41075	D	.	.	.	.	.	.	.	.	.	.	.	-4.767	0.34204	T	.	.	0.130	0.43517	B	.;.	.;.	3.250144	0.44406	21.9	0.99144971648526192	0.53655	0.19222	0.20576	N	AEFDBHCIJ	0.147924	0.27170	N	-0.247741181233483	0.31192	1.746676	-0.244493984650068	0.29962	1.682926	0.999999868095438	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.249971	0.05119	0	.	.	2.23	2.23	0.27189	0.406000	0.20754	5.920000	0.51151	0.465000	0.21702	0.002000	0.15269	1.000000	0.68203	0.949000	0.49496	0.0:0.0:1.0:0.0	10.066	0.41479	579	0.69780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2307.43	41	chr4	15003545	.	G	A	2307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.961;DP=459;ExcessHet=0;FS=2.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.17;ReadPosRankSum=-0.548;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	9	0	1	0
chr4	15003812	15003812	G	C	exonic	CPEB2	.	nonsynonymous SNV	CPEB2:NM_001177381:exon1:c.G1139C:p.G380A,CPEB2:NM_001177382:exon1:c.G1139C:p.G380A,CPEB2:NM_001177383:exon1:c.G1139C:p.G380A,CPEB2:NM_001177384:exon1:c.G1139C:p.G380A,CPEB2:NM_182485:exon1:c.G1139C:p.G380A,CPEB2:NM_182646:exon1:c.G1139C:p.G380A	.	551	948	18	5	0	28	0.014553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.0119808	0.1152	0.1	0.2	0	.	0.0357	0.0714	0.1228	0.0020116	311	154602	rs572958953	0.0079	0.0069	0.0075	0.0082	0.0465	0.0077	0.0076	0.0440	0.0430	0.0009	0.0046	0.0052	0	0.0027	0.0196	0.0073	0.0097	0.0465	0.0071	0.0069	0.0063	0.0079	0.0510	0.0067	0.0066	0.0457	0.0436	0.0013	0.0144	0.0087	0.0068	0.0002	0.0006	0.0492	0.0082	0.0059	0.0510	0.0	0.91255	D	0.515	0.21947	T	.	.	.	.	.	.	.	.	.	.	0.845602	0.28570	N	.	.	.	0.8	0.48769	T	-0.21	0.12472	N	0.067	0.17691	-0.9936	0.31670	T	0.073	0.29483	T	7	0.0017962456	0.00024	T	.	.	.	0.044	0.11924	.	.	.	.	0.4029871108901258	0.40214	0.342334712265	0.36172	0.784202933311	0.79562	T	.	.	.	-0.565046	0.00237	T	-0.558664	0.16501	T	0.133774850907415	0.15726	T	.	.	.	.	.	.	.	.	.	.	.	-3.859	0.21884	T	.	.	0.287	0.69497	B	.;.	.;.	3.220641	0.43878	21.8	0.86073891809344205	0.16296	0.51470	0.28903	D	AEFDBHCI	0.328139	0.42889	N	-0.293961584911156	0.29379	1.628797	-0.307236041630183	0.27864	1.549253	0.999999996077333	0.74766	0.437478	0.07067	0	0.166054	0.03914	2	0.606814	0.37721	0	0.621717	0.48901	0	.	.	1.45	1.45	0.21708	2.813000	0.47701	6.620000	0.56116	0.208000	0.17961	0.998000	0.41325	1.000000	0.68203	0.803000	0.37862	0.0:0.0:1.0:0.0	8.433	0.31932	579	0.69780	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.031250	0.010000	0.000000	0.038462	0.000000	0.000000	0.021739	0.022727	0.1	32.58	2	chr4	15003812	.	G	C	32.58	.	AC=2;AF=0.1;AN=20;DP=45;ExcessHet=0;FS=0;InbreedingCoeff=0.5997;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.29;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,144	9	1	0	0
chr4	15004125	15004125	-	GGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_001177382:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_001177383:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_001177384:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_182485:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67,CPEB2:NM_182646:exon1:c.1452_1453insGGGGGGGGGG:p.F488Gfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0022	0.0001	0.0001	0.0004	9.798e-05	9.293e-05	0.0002	0.0001	0.0002	0.0001	0.0003	0.0003	8.488e-05	0.0004	0.0001	0.0001	2.583e-05	2.663e-05	0.0003	3.899e-05	1.365e-05	.	8.22e-06	5.19e-06	.	.	0	0	0	0	0	0.0004	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	92.39	48	chr4	15004125	.	C	CGGGGGGGGGG	92.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.414;DP=412;ExcessHet=0;FS=37.749;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=-2.586;SOR=4.16	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1082:.	9	0	1	0
chr4	15688006	15688006	G	A	exonic	FAM200B	.	nonsynonymous SNV	FAM200B:NM_001145191:exon2:c.G1029A:p.M343I	.	446	1073	3	0	0	3	0.001396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	.	0.00119808	0.0048	0	0	0	0	0	0	0.0119	0.0006856	106	154602	rs572986501	0.0008	0.0007	0.0004	0.0011	0.0128	0.0007	0.0007	0.0122	0.0119	3.167e-05	0	0	0	0	0.0002	4.636e-06	0.0009	0.0128	0.0003	0.0003	7.712e-05	0.0006	0.0097	0.0002	0.0002	0.0075	0.0067	0	0	0	0	0.0002	0	0	0	0	0.0097	0.014	0.53172	D	0.316	0.19362	T	0.149	0.27956	B	0.195	0.36592	B	.	.	.	.	0.999899	0.19781	N	0.755	0.19153	N	-1.86	0.84341	D	-1.41	0.34795	N	0.296	0.33469	-0.6572	0.62399	T	0.414	0.76129	T	8	0.0069901645	0.00159	T	.	.	.	0.099	0.28413	0.377	0.39156	0.20549828249	0.20151	0.10978011155804851	0.10907	.	.	0.398772597313	0.24898	T	0.004577	0.03988	T	-0.336549	0.05630	T	-0.245175	0.50292	T	0.0219147171541908	0.00899	T	0.514149	0.16548	T	0.17323945	0.38061	0.17455687	0.39860	0.17323945	0.38060	0.17455687	0.39859	-2.085	0.03520	T	.	.	0.221	0.45433	B	.;.	.;.	1.445048	0.18651	13.85	0.96499830933056441	0.30037	0.19842	0.20816	N	AEFDBI	.	.	.	-0.473887982008467	0.22938	1.228352	-0.463908761119565	0.23156	1.261313	0.999727479268837	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.36	1.5	0.22029	1.031000	0.29773	0.866000	0.22272	0.614000	0.49286	0.934000	0.32416	0.000000	0.08366	0.981000	0.58702	0.1787:0.0:0.8213:0.0	4.906	0.13151	542	0.72843	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1194.43	34	chr4	15688006	.	G	A	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.823;DP=427;ExcessHet=0;FS=2.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.51;SOR=1.048	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1173	9	0	1	0
chr4	15688379	15688381	TTG	-	exonic	FAM200B	.	nonframeshift deletion	FAM200B:NM_001145191:exon2:c.1402_1404del:p.L469del	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	.	0.0002	0	0.0025	0	0	0	0	0.0003	4.53e-05	7	154602	rs575501826	0.0003	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0007	6.34e-05	0.0004	0	0	0	0.0005	0.0002	0.0004	0.0009	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	0	6.533e-05	0	0	0	0	0.0002	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3281.39	101	chr4	15688378	.	ATTG	A	3281.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=813;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=1.96;SOR=0.742	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	9	0	1	0
chr4	15824960	15824960	C	T	exonic	CD38	.	nonsynonymous SNV	CD38:NM_001775:exon3:c.C443T:p.T148M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.0785249681242	0.0005	0.000998403	0.0005	9.741e-05	0	0.0002	0	0.0005	0.0011	0.0010	0.0004528	70	154602	rs138866692	0.0004	0.0004	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	8.964e-05	6.717e-05	0.0052	0.0001	0	0.0023	0.0002	0.0009	0.0013	0.0003	0.0003	0.0004	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	9.634e-05	0	6.538e-05	0.0043	0.0004	0	0.0068	0.0003	0	0.0010	0.052	0.39097	T	0.006	0.72224	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	N	0.157752	0.991058	0.41297	D	2.545	0.74286	M	0.44	0.56609	T	-3.87	0.76015	D	0.382	0.42345	-0.5307	0.67515	T	0.307	0.67777	T	10	0.024703503	0.00689	T	0.078525	0.73024	D	0.308	0.62947	.	.	0.75392961054	0.75170	0.8964560050014194	0.89616	0.833824280555	0.67736	0.339563012123	0.16372	T	0.383506	0.74534	T	-0.32325	0.06635	T	-0.26173	0.48651	T	0.0903151085756348	0.11255	T	0.726827	0.37284	T	0.2631608	0.49380	0.33942622	0.59708	0.2631608	0.49380	0.33942622	0.59707	-4.271	0.27768	T	.	.	0.174	0.45569	B	.;.	.;.	3.276894	0.44877	22.0	0.99651921114788899	0.77380	0.43965	0.27214	N	AEFI	0.093587	0.18934	N	0.0342821537521535	0.43421	2.635314	-0.0474717785330979	0.37599	2.203709	0.506066862893366	0.20982	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.35	3.62	0.40616	1.538000	0.35700	1.601000	0.27583	-0.174000	0.10959	0.882000	0.31029	0.880000	0.27694	0.434000	0.27538	0.0:0.8238:0.0:0.1762	8.793	0.34025	839	0.37672	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	852.43	89	chr4	15824960	.	C	T	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=416;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=-1.836;SOR=0.894	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1054	9	0	1	0
chr4	15986020	15986020	A	C	exonic	PROM1	.	nonsynonymous SNV	PROM1:NM_001145851:exon19:c.T2121G:p.I707M,PROM1:NM_001145847:exon20:c.T2121G:p.I707M,PROM1:NM_001145848:exon20:c.T2121G:p.I707M,PROM1:NM_001145849:exon20:c.T2148G:p.I716M,PROM1:NM_001145852:exon20:c.T2121G:p.I707M,PROM1:NM_001371406:exon20:c.T2121G:p.I707M,PROM1:NM_001371407:exon20:c.T2121G:p.I707M,PROM1:NM_001371408:exon20:c.T2121G:p.I707M,PROM1:NM_001145850:exon21:c.T2148G:p.I716M,PROM1:NM_006017:exon21:c.T2148G:p.I716M	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.017537421403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.992	0.64738	D	0.944	0.68059	D	0.018999	0.27357	N	0.406202	1	0.08975	N	1.75	0.45442	L	0.83	0.47815	T	-1.78	0.42001	N	0.298	0.33904	-0.9606	0.39068	T	0.171	0.51165	T	10	0.5576179	0.64607	D	0.017537	0.39279	T	0.201	0.48592	0.627	0.76254	0.388653054685	0.38476	0.34058359936447224	0.33971	0.11670823845	0.13163	0.346663355827	0.17429	T	0.377663	0.74080	T	-0.149123	0.28450	T	-0.451982	0.27477	T	0.426029413938522	0.29914	T	0.751925	0.37414	T	0.1218354	0.28642	0.09953435	0.23768	0.1218354	0.28642	0.09953435	0.23768	-5.062	0.38676	T	0.6076310299813412	0.67501	0.194	0.41526	B	.;.;.;.;.;.	.;.;.;.;.;.	1.968591	0.25009	16.61	0.96729301911706378	0.30880	0.08555	0.14468	N	AEFBI	0.141348	0.26350	N	-0.249042357395144	0.31142	1.743265	-0.472178478423286	0.22925	1.24755	0.751548245875112	0.23368	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.14	0.88	0.18296	0.358000	0.19952	0.863000	0.22246	-0.043000	0.17390	0.035000	0.20724	0.000000	0.08366	0.001000	0.02609	0.2557:0.2659:0.3393:0.1391	1.205	0.01777	900	0.24599	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1356.43	48	chr4	15986020	.	A	C	1356.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=499;ExcessHet=0;FS=1.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.899;SOR=0.925	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1620	9	0	1	0
chr4	16006647	16006647	C	T	exonic	PROM1	.	nonsynonymous SNV	PROM1:NM_001145851:exon11:c.G1318A:p.V440M,PROM1:NM_001145847:exon12:c.G1318A:p.V440M,PROM1:NM_001145848:exon12:c.G1318A:p.V440M,PROM1:NM_001145849:exon12:c.G1345A:p.V449M,PROM1:NM_001145852:exon12:c.G1318A:p.V440M,PROM1:NM_001371406:exon12:c.G1318A:p.V440M,PROM1:NM_001371407:exon12:c.G1318A:p.V440M,PROM1:NM_001371408:exon12:c.G1318A:p.V440M,PROM1:NM_001145850:exon13:c.G1345A:p.V449M,PROM1:NM_006017:exon13:c.G1345A:p.V449M	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	0	1517	5	0	0	5	0.00164528	.	.	.	191235	PROM1-related_disorder|Retinal_macular_dystrophy_type_2|Cone-rod_dystrophy_12|Stargardt_disease_4|Retinitis_pigmentosa_41|not_provided|Retinitis_pigmentosa	.|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786,Orphanet:827|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.102	0.032816204975	0.0013	0.000399361	0.0015	0.0005	0.0004	0	0	0.0020	0.0028	0.0018	0.0004269	66	154602	rs200620291	0.0022	0.0022	0.0023	0.0021	0.0027	0.0022	0.0021	0.0026	0.0025	0.0008	0.0003	3.831e-05	2.522e-05	0.0001	0.0024	0.0027	0.0020	0.0011	0.0015	0.0015	0.0015	0.0014	0.0023	0.0013	0.0012	0.0020	0.0019	0.0009	0	0.0014	0	0.0002	0	0	0.0023	0.0005	0.0012	0.043	0.41364	D	0.047	0.48855	D	0.903	0.49795	P	0.313	0.41496	B	0.116885	0.19175	N	0.546048	1	0.08975	N	0.9	0.23182	L	0.64	0.52867	T	-1.23	0.31170	N	0.365	0.41557	-0.9829	0.34328	T	0.102	0.37768	T	10	0.017271727	0.00368	T	0.032816	0.54540	D	0.102	0.29158	.	.	0.436348499334	0.43257	0.22054022501264386	0.21969	0.0467116271295	0.05080	0.382918715477	0.22670	T	0.452312	0.79269	T	-0.536225	0.00353	T	-0.543034	0.18000	T	0.0134123369061345	0.00243	T	0.845915	0.52922	T	0.027034424	0.01838	0.05056698	0.07964	0.029985301	0.02585	0.05207993	0.08510	-8.046	0.61798	D	0.2828254075195298	0.37840	0.119	0.32992	B	.;.;.;.;.;.	.;.;.;.;.;.	1.948108	0.24746	16.51	0.98180487478769152	0.38941	0.14188	0.18270	N	AEFBI	0.098931	0.19924	N	-0.496831084625603	0.22184	1.182774	-0.633426874038756	0.18637	0.9964515	0.0545790915728564	0.14980	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.47	0.128	0.14034	1.118000	0.30860	0.355000	0.17517	-0.176000	0.10722	0.771000	0.29368	0.000000	0.08366	0.257000	0.23443	0.1047:0.4482:0.172:0.2752	2.597	0.04561	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002520	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	1563.43	35	chr4	16006647	.	C	T	1563.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.557;DP=449;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.514;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,957	9	0	1	0
chr4	16018417	16018421	TTGAG	-	exonic	PROM1	.	stopgain	PROM1:NM_001145851:exon7:c.877_881del:p.L293*,PROM1:NM_001145847:exon8:c.877_881del:p.L293*,PROM1:NM_001145848:exon8:c.877_881del:p.L293*,PROM1:NM_001145849:exon8:c.904_908del:p.L302*,PROM1:NM_001145852:exon8:c.877_881del:p.L293*,PROM1:NM_001371406:exon8:c.877_881del:p.L293*,PROM1:NM_001371407:exon8:c.877_881del:p.L293*,PROM1:NM_001371408:exon8:c.877_881del:p.L293*,PROM1:NM_001145850:exon9:c.904_908del:p.L302*,PROM1:NM_006017:exon9:c.904_908del:p.L302*	Cone-rod dystrophy 12;Macular dystrophy, retinal, 2, Autosomal dominant;Retinitis pigmentosa 41, Autosomal recessive;Stargardt disease 4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2157.39	33	chr4	16018416	.	ATTGAG	A	2157.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.026;DP=433;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.85;ReadPosRankSum=-0.731;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	9	0	1	0
chr4	17709587	17709587	G	A	exonic	FAM184B	.	nonsynonymous SNV	FAM184B:NM_015688:exon2:c.C199T:p.R67W	.	397	1103	20	2	0	24	0.0107623	.	.	.	2822455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.373	0.179227908459	.	0.00259585	0.0052	0.0011	0.0036	0	0	0.0072	0	0.0051	0.0009573	148	154602	rs61746445	0.0027	0.0026	0.0026	0.0028	0.0117	0.0026	0.0026	0.0094	0.0085	0.0004	0.0010	0.0080	2.799e-05	0.0009	0.0117	0.0027	0.0039	0.0038	0.0020	0.0020	0.0020	0.0020	0.0041	0.0018	0.0018	0.0028	0.0027	0.0004	0	0.0016	0.0063	0	0.0006	0	0.0032	0.0014	0.0041	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.984	0.76113	D	0.000360	0.45440	D	0.163809	1	0.08975	N	2.22	0.62911	M	-1.15	0.77964	T	-5.0	0.82341	D	0.265	0.30004	-0.4580	0.70135	T	0.482	0.80215	T	10	0.006183207	0.00139	T	0.179228	0.85409	D	0.373	0.69188	.	.	0.361958692863	0.35806	0.41334810671549177	0.41250	.	.	0.477724611759	0.35743	T	0.340162	0.70922	T	-0.235981	0.15866	T	-0.112585	0.62404	T	0.0447716790519422	0.04561	T	0.872813	0.58002	D	0.339301	0.56224	0.37361875	0.62545	0.339301	0.56224	0.37361875	0.62545	-8.711	0.65818	D	.	.	0.126	0.26794	B	.	.	3.593035	0.50711	23.0	0.99873558175972643	0.95076	0.47163	0.27921	N	AEFDBCI	0.330195	0.43031	N	0.0438600788971241	0.43861	2.670819	-0.11204925906214	0.34903	2.013063	0.999834923307394	0.43792	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.32	1.08	0.19456	1.893000	0.39391	1.305000	0.25500	0.676000	0.76740	0.511000	0.27041	0.002000	0.18203	0.102000	0.18378	0.0826:0.0:0.2722:0.6452	8.699	0.33474	790	0.46189	Protein FAM184A/B, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009402	0.005618	0.012739	0.008000	0.000000	0.018519	0.009174	0.000000	0.05	958.43	41	chr4	17709587	.	G	A	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.234;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.589;SOR=0.788	GT:AD:DP:GQ:PL	0/1:36,42:78:99:970,0,855	9	0	1	0
chr4	17884108	17884108	C	T	exonic	LCORL	.	nonsynonymous SNV	LCORL:NM_001166139:exon7:c.G1421A:p.S474N,LCORL:NM_001365658:exon8:c.G941A:p.S314N,LCORL:NM_001365659:exon8:c.G941A:p.S314N	.	436	1085	1	0	0	1	0.000460617	.	.	.	2351256	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.144	0.00277448250298	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs148261312	1.144e-05	1.094e-05	8.464e-06	1.45e-05	0.0002	6.77e-06	5.48e-06	8.204e-05	5.561e-05	0.0002	0	0	0	0	0	5.563e-06	6.899e-05	0	1.974e-05	1.969e-05	1.288e-05	2.692e-05	4.817e-05	5.25e-06	2.46e-06	7.98e-06	2.99e-06	4.817e-05	0	0	0	0	0	0	1.473e-05	0	0	0.44	0.11227	T	0.254	0.24123	T	.	.	.	.	.	.	0.005422	0.32805	N	0.348186	1	0.81001	D	-0.205	0.04094	N	.	.	.	-0.5	0.15782	N	0.081	0.05670	-1.0081	0.27510	T	0.058	0.24242	T	7	0.101181686	0.18471	T	0.002774	0.05752	T	0.144	0.38394	.	.	0.193917141947	0.19028	0.5833540748064074	0.58264	0.414768115715	0.42146	0.58541572094	0.50848	T	0.002706	0.02096	T	-0.299413	0.08715	T	-0.667862	0.07746	T	0.167911767959595	0.18437	T	0.742826	0.36203	T	0.05115468	0.09351	0.06175106	0.11975	0.05115468	0.09350	0.06175106	0.11975	-4.697	0.33367	T	.	.	0.085	0.10304	B	.;.	.;.	2.746477	0.35986	20.1	0.91348872802030101	0.20612	0.47373	0.27968	N	AEFBI	0.085562	0.17345	N	-0.0403658722508174	0.40034	2.370689	0.0637843131489733	0.42742	2.590707	0.898596390136003	0.26030	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.19	3.06	0.34374	1.487000	0.35149	2.207000	0.31336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7231:0.0:0.2769	8.835	0.34267	436	0.80373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1303.43	38	chr4	17884108	.	C	T	1303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.857;DP=490;ExcessHet=0;FS=3.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=1.36;SOR=0.508	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr4	20595716	20595716	T	C	exonic	SLIT2	.	nonsynonymous SNV	SLIT2:NM_001289135:exon30:c.T3190C:p.Y1064H,SLIT2:NM_001289136:exon30:c.T3178C:p.Y1060H,SLIT2:NM_004787:exon31:c.T3202C:p.Y1068H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.335238197281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.979	0.75168	D	0.000000	0.84330	D	0.052612	1	0.81001	D	3.13	0.88074	M	-3.52	0.94729	D	-4.47	0.77881	D	0.804	0.82157	1.036	0.97836	D	0.916	0.97223	D	10	0.979445	0.97868	D	0.335238	0.91863	D	0.849	0.95323	0.844	0.94845	0.832981234634	0.83138	0.7896264477454104	0.78914	1.16567557739	0.79611	0.706179499626	0.68039	T	0.725434	0.92273	D	0.386402	0.89113	D	0.317263	0.88976	D	0.9938805103302	0.84878	D	0.907909	0.68653	D	0.7909187	0.83330	0.720138	0.83477	0.7909187	0.83332	0.720138	0.83478	-12.51	0.87246	D	.	.	0.818	0.79531	P	.;.;.;.;.	.;.;.;.;.	4.483789	0.69979	25.5	0.99833000622340395	0.91456	0.98231	0.80757	D	AEFBI	0.836688	0.75442	D	0.769878689897437	0.84192	8.21982	0.702449766699905	0.82566	7.798508	0.999999999226131	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.674000	0.83146	7.933000	0.75122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	16.822	0.85699	836	0.38045	.;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1057.43	34	chr4	20595716	.	T	C	1057.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=441;ExcessHet=0;FS=2.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1;SOR=1.015	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1281	9	0	1	0
chr4	22388349	22388349	T	C	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon19:c.A3322G:p.N1108D	.	433	1088	1	0	0	1	0.000459348	.	.	.	829037	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0311239104786	.	.	4.95e-05	0	0	0	0	8.995e-05	0	0	5.17e-05	8	154602	rs750684538	3.215e-05	3.215e-05	2.995e-05	3.438e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.546e-05	2.987e-05	2.236e-05	3.826e-05	0	0	0.0005	3.327e-05	4.967e-05	1.159e-05	6.575e-06	6.567e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.684	0.04379	T	0.216	0.26226	T	0.988	0.62325	D	0.76	0.56425	P	0.000000	0.84330	D	0.042300	0.999998	0.58761	D	.	.	.	0.51	0.55439	T	-1.52	0.36980	N	0.644	0.65587	-0.7752	0.56570	T	0.229	0.59459	T	10	0.4488006	0.58567	T	0.031124	0.53284	D	0.135	0.36572	0.369	0.37850	0.151262610727	0.14761	0.2734018693848779	0.27253	0.543955468731	0.51462	0.677370548248	0.63892	T	0.218132	0.58077	T	-0.242328	0.15053	T	-0.394182	0.34062	T	0.401351660490036	0.28993	T	0.859214	0.55036	D	0.29010993	0.52003	0.33563578	0.59375	0.29010993	0.52003	0.33563578	0.59374	-3.431	0.15477	T	.	.	0.184	0.39848	B	.	.	4.442011	0.68981	25.3	0.99601053867176093	0.74219	0.98049	0.79168	D	AEBI	0.842193	0.75933	D	0.455100893863943	0.64494	4.705098	0.507011596369036	0.68460	5.223198	0.999998406160432	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.716000	0.68088	5.048000	0.46972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.125	0.81202	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1388.43	47	chr4	22388349	.	T	C	1388.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=435;ExcessHet=0;FS=1.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.36;SOR=0.931	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1129	9	0	1	0
chr4	22424214	22424214	C	T	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon11:c.G1582A:p.G528S	.	445	1060	17	0	0	17	0.00795508	.	.	.	1274610	Optic_atrophy|ADGRA3-related_disorder|Retinal_dystrophy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124|.|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.0123390148085	0.0014	0.000998403	0.0017	0.0005	0.0009	0	0.0003	0.0026	0.0011	0.0008	0.0016041	248	154602	rs61745011	0.0016	0.0016	0.0015	0.0017	0.0178	0.0015	0.0015	0.0148	0.0137	0.0007	0.0017	7.673e-05	0.0003	0.0003	0.0178	0.0017	0.0022	0.0007	0.0016	0.0016	0.0017	0.0015	0.0037	0.0014	0.0014	0.0029	0.0026	0.0006	0.0022	0.0037	0.0003	0	0.0002	0.0238	0.0020	0.0062	0.0008	1.0	0.02309	T	1.0	0.03380	T	0.001	0.18235	B	0.0	0.16012	B	0.000502	0.43753	N	0.266488	0.994947	0.23407	N	.	.	.	0.76	0.53516	T	1.09	0.01263	N	0.166	0.17553	-1.0411	0.16981	T	0.037	0.15943	T	10	0.005822152	0.00130	T	0.012339	0.30825	T	0.079	0.23065	.	.	0.043077524339	0.03247	0.31789564106272394	0.31702	0.0997312939476	0.11260	0.22305470705	0.01493	T	0.071876	0.34315	T	-0.582621	0.00186	T	-0.614909	0.11591	T	0.00416435808975832	0.00044	T	0.70393	0.31399	T	0.013890847	0.00073	0.040655706	0.04443	0.013890847	0.00073	0.040655706	0.04442	-2.539	0.10042	T	.	.	0.056	0.00478	B	.;.;.	.;.;.	1.016401	0.13959	10.52	0.36644570165053242	0.02369	0.15429	0.18907	N	AEFBI	0.080459	0.16267	N	-0.913077330814378	0.10535	0.5039075	-0.734162068912232	0.16112	0.8507995	0.852322293268972	0.25068	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	4.25	0.49658	4.364000	0.59253	1.230000	0.25036	-0.167000	0.11441	0.998000	0.41325	0.003000	0.18671	0.242000	0.23054	0.0:0.0724:0.0:0.9276	11.252	0.48262	827	0.39843	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.005051	0.019022	0.023392	0.000000	0.017241	0.012195	0.007576	0.05	933.43	33	chr4	22424214	.	C	T	933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.374;DP=409;ExcessHet=0;FS=1.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.465;SOR=0.935	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1034	9	0	1	0
chr4	25333308	25333308	C	A	exonic	ZCCHC4	.	nonsynonymous SNV	ZCCHC4:NM_001318148:exon4:c.C455A:p.T152N,ZCCHC4:NM_024936:exon4:c.C455A:p.T152N	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00884779547999	0.0010	0.000199681	0.0008	0	0.0003	0	0.0002	0.0014	0	0.0002	0.0007891	122	154602	rs201877101	0.0010	0.0010	0.0010	0.0011	0.0031	0.0010	0.0010	0.0020	0.0017	8.961e-05	0.0004	0	0	0.0002	0.0031	0.0013	0.0009	0.0001	0.0008	0.0008	0.0008	0.0007	0.0014	0.0006	0.0006	0.0011	0.0011	0.0002	0	0.0003	0	0	0.0004	0.0034	0.0014	0.0019	0.0002	0.59	0.05808	T	0.54	0.48080	T	0.016	0.17332	B	0.003	0.08700	B	0.863740	0.07132	N	1.057890	1	0.08975	N	1.95	0.52479	M	1.99	0.21666	T	0.1	0.05810	N	0.318	0.35832	-1.0213	0.23292	T	0.088	0.34023	T	10	0.020593226	0.00477	T	0.008848	0.23342	T	0.031	0.07369	.	.	0.101711395817	0.09552	0.3344747409344798	0.33360	0.0918701911959	0.10371	0.373358607292	0.21313	T	0.002066	0.01471	T	-0.552857	0.00280	T	-0.596997	0.13065	T	0.00995411128314422	0.00132	T	0.780822	0.41560	T	0.0989085	0.23335	0.04829016	0.07141	0.0989085	0.23335	0.04829016	0.07140	-3.768	0.20327	T	.	.	0.083	0.22428	B	.;.	.;.	0.065364	0.04751	1.375	0.21358619256574266	0.00810	0.17689	0.19945	N	AEFBI	0.091720	0.18575	N	-0.668885415125432	0.16912	0.8658282	-0.759826466199451	0.15481	0.8144119	0.003958862217823	0.10355	0.732398	0.92422	0	0.633656	0.55848	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.75	2.13	0.26445	0.857000	0.27486	1.364000	0.25903	-0.804000	0.03133	0.000000	0.06391	0.001000	0.17328	0.034000	0.13613	0.1182:0.5928:0.2274:0.0616	7.478	0.26554	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.006793	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1147.43	33	chr4	25333308	.	C	A	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=439;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=0.925;SOR=0.617	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr4	25674588	25674588	G	A	exonic	SLC34A2	.	nonsynonymous SNV	SLC34A2:NM_001177998:exon12:c.G1414A:p.A472T,SLC34A2:NM_001177999:exon12:c.G1414A:p.A472T,SLC34A2:NM_006424:exon12:c.G1417A:p.A473T	Pulmonary alveolar microlithiasis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.250455050499	7.7e-05	.	4.119e-05	0	8.639e-05	0	0	5.995e-05	0	0	7.12e-05	11	154602	rs377112763	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.5e-05	0.0001	0.0001	0	2.236e-05	0	0	0	0	0.0001	0.0001	0	5.913e-05	5.91e-05	8.993e-05	2.69e-05	0.0001	3.077e-05	2.21e-05	5.842e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	0.994	0.77913	D	0.867	0.70672	P	0.000000	0.84330	D	0.050246	1	0.81001	D	2.965	0.85198	M	-2.27	0.87433	D	-3.53	0.68532	D	0.87	0.87265	0.745	0.93727	D	0.786	0.92736	D	10	0.93631434	0.92962	D	0.250455	0.89092	D	0.868	0.96022	.	.	0.968714131994	0.96837	0.9646828050153997	0.96455	0.847024193795	0.68364	0.531073272228	0.43186	T	0.758611	0.93443	D	0.281655	0.81457	D	0.352705	0.90423	D	0.948673248291016	0.62946	D	0.985701	0.95103	D	0.60151845	0.72772	0.59874827	0.76695	0.60151845	0.72774	0.59874827	0.76696	-8.195	0.62855	D	0.7768689336948482	0.85723	0.836	0.79014	P	.;.;.;.	.;.;.;.	4.062831	0.60307	24.2	0.99902633681527919	0.97426	0.98285	0.81260	D	AEFBI	0.926818	0.90853	D	0.694250264645112	0.79255	7.039424	0.62161878267821	0.76513	6.504774	0.982375558562502	0.30390	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.2	4.35	0.51454	8.121000	0.89451	7.511000	0.59621	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:0.0:0.8597:0.1403	15.422	0.74746	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	926.43	36	chr4	25674588	.	G	A	926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=1.58;SOR=0.727	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1223	9	0	1	0
chr4	25804548	25804548	T	G	exonic	SEL1L3	.	nonsynonymous SNV	SEL1L3:NM_001297592:exon10:c.A1664C:p.Q555P,SEL1L3:NM_001297594:exon10:c.A1310C:p.Q437P,SEL1L3:NM_015187:exon10:c.A1769C:p.Q590P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00963530512065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273282177	3.434e-06	3.42e-06	1.366e-06	5.524e-06	0.0003	1.01e-06	7.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.804e-06	1.661e-05	0	1.971e-05	1.97e-05	2.569e-05	1.344e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0010	0	0.215	0.19293	T	0.217	0.27235	T	0.0	0.02946	B	0.0	0.01387	B	0.301072	0.14597	N	0.725127	0.588817	0.32438	D	0.345	0.11182	N	0.63	0.53088	T	-1.86	0.43524	N	0.204	0.22614	-1.0338	0.19236	T	0.093	0.35336	T	10	0.07619798	0.11872	T	0.009635	0.25176	T	0.084	0.24469	.	.	0.123314135267	0.11883	0.7301139307977426	0.72956	0.221771950682	0.24716	0.278899371624	0.07339	T	0.01963	0.15604	T	-0.182538	0.23358	T	-0.499979	0.22349	T	0.0651634112000465	0.07955	T	0.584142	0.21248	T	0.28689113	0.51703	0.3391092	0.59680	0.28689113	0.51702	0.3391092	0.59680	-7.66	0.58729	D	.	.	0.059	0.00806	B	.;.;.	.;.;.	0.236787	0.06174	2.623	0.89352668122862478	0.18724	0.11808	0.16875	N	AEFBI	0.097264	0.19620	N	-0.92187847373057	0.10331	0.4931808	-0.897910720871546	0.12143	0.6229428	0.929241200985466	0.26961	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	-3.43	0.04507	-0.831000	0.04512	-0.236000	0.10634	-0.123000	0.13640	0.017000	0.19353	0.462000	0.25007	0.988000	0.63387	0.0:0.1763:0.4932:0.3305	9.120	0.35943	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	482.43	35	chr4	25804548	.	T	G	482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=368;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.285;SOR=1.135	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1234	9	0	1	0
chr4	31142672	31142672	G	C	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon3:c.G3591C:p.M1197I,PCDH7:NM_032457:exon3:c.G3567C:p.M1189I	.	425	1089	8	0	0	8	0.00365965	.	.	.	2236332	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.00279375868868	0.0002	0.000199681	0.0004	0.0002	0.0008	0	0	0.0006	0	6.071e-05	0.0003622	56	154602	rs201367943	0.0003	0.0003	0.0003	0.0003	0.0139	0.0003	0.0003	0.0111	0.0101	0.0003	0.0009	0.0040	0	0	0.0139	0.0002	0.0007	9.612e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0009	0.0007	7.226e-05	0	0.0013	0.0060	0	0	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.006793	0.008772	0.000000	0.008621	0.003049	0.000000	0.05	1679.43	149	chr4	31142672	.	G	C	1679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.285;DP=462;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.234;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	9	0	1	0
chr4	36229221	36229221	G	A	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.C266T:p.P89L	.	434	1056	30	2	0	34	0.0158434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0110	0.00559105	0.0086	0.0098	0.0030	0.0001	0.0115	0.0117	0.0110	0.0025	0.0087062	1346	154602	rs35822395	0.0098	0.0098	0.0099	0.0097	0.0154	0.0096	0.0096	0.0129	0.0119	0.0117	0.0053	0.0047	0.0001	0.0122	0.0154	0.0109	0.0082	0.0023	0.0096	0.0096	0.0096	0.0095	0.0111	0.0092	0.0090	0.0104	0.0102	0.0103	0.0121	0.0062	0.0040	0	0.0105	0.0102	0.0111	0.0128	0.0027	0.094	0.31383	T	0.429	0.13752	T	0.0	0.02946	B	0.0	0.01387	B	0.251344	0.03649	N	1.525240	1	0.08975	N	0	0.06538	N	-0.06	0.63568	T	-0.94	0.25118	N	0.061	0.03283	-1.0306	0.20260	T	0.065	0.26948	T	10	0.0031697154	0.00053	T	.	.	.	0.095	0.27398	.	.	0.18995819373	0.18626	0.22016445479524357	0.21932	0.0250879662362	0.02552	0.228219985962	0.01839	T	0.003592	0.03000	T	-0.606973	0.00132	T	-0.63362	0.10141	T	0.00335767895251557	0.00035	T	0.79622	0.43953	T	0.036733206	0.04575	0.042625476	0.05121	0.036733206	0.04575	0.042625476	0.05120	-2.329	0.04716	T	.	.	0.063	0.01512	B	.	.	1.312951	0.17162	13.00	0.87722954674072384	0.17433	0.11363	0.16584	N	AEFGBI	0.068065	0.13411	N	-0.786696905977772	0.13656	0.6743126	-0.697816327164889	0.17015	0.902815	0.998985095291289	0.38135	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.94	2.77	0.31614	0.525000	0.22664	1.428000	0.26422	0.672000	0.70159	0.000000	0.06391	0.001000	0.17328	0.870000	0.41412	0.0782:0.1297:0.4379:0.3542	4.300	0.10364	726	0.54788	.	.	.	.	.	rs35822395	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1664.43	35	chr4	36229221	.	G	A	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.063;DP=428;ExcessHet=0;FS=3.36;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.324;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	9	0	1	0
chr4	36290704	36290704	G	T	splicing	DTHD1	NM_001136536:exon2:c.348+1G>T;NM_001170700:exon3:c.1218+1G>T;NM_001378435:exon2:c.348+1G>T	.	.	.	458	1062	2	0	0	2	0.000940734	1.0000	0.872	.	960537	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0007	0	0.0006	8.41e-05	13	154602	rs201876616	0.0003	0.0003	0.0003	0.0003	0.0060	0.0003	0.0003	0.0044	0.0038	0.0002	0.0003	0.0018	0	0	0.0060	0.0003	0.0005	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0001	0.0006	0	0	0.0032	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0400978	0.45933	T	0.0207819	0.71680	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.824565	0.78608	26.9	0.99182634738568465	0.54730	0.98683	0.85537	D	AEFDGI	.	.	.	0.966305751486612	0.94611	12.89425	0.766497122776446	0.87384	9.203458	0.999999994576326	0.74766	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.956066	0.63648	5.25	5.25	0.73169	5.213000	0.65064	9.716000	0.81349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0:0.0:1.0:0.0	18.867	0.92268	687	0.59234	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	910.43	48	chr4	36290704	.	G	T	910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.047;DP=409;ExcessHet=0;FS=8.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.58;ReadPosRankSum=-0.565;SOR=0.088	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr4	37245170	37245170	G	C	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon1:c.G103C:p.V35L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0290569382452	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450330756	2.872e-06	2.736e-06	4.251e-06	1.455e-06	0.0001	6.7e-07	4.5e-07	3.818e-05	2.263e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.05899	T	0.12	0.35970	T	0.262	0.31549	B	0.046	0.24676	B	.	.	.	.	0.92571	0.36813	D	1.175	0.29870	L	2.35	0.16217	T	0.05	0.06369	N	0.096	0.07673	-1.0850	0.06407	T	0.028	0.11926	T	9	0.075412184	0.11651	T	0.029057	0.51634	D	0.046	0.12618	0.277	0.23004	0.0297737177859	0.01360	0.561714243708696	0.56098	.	.	0.767239868641	0.77011	T	0.003423	0.02829	T	-0.364812	0.03865	T	-0.567495	0.15681	T	0.423678368330002	0.29826	T	0.718628	0.33152	T	0.07799002	0.17735	0.12831095	0.30873	0.07799002	0.17735	0.12831095	0.30872	-2.772	0.07928	T	.	.	0.094	0.14293	B	.	.	2.420371	0.31122	18.65	0.99197862186028263	0.55171	0.91174	0.53005	D	AEFDBCIJ	0.451057	0.50519	N	-0.235128549255659	0.31702	1.780228	-0.0958465084097722	0.35561	2.058875	0.998937249993301	0.38009	0.59774	0.34471	0	0.610034	0.51514	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.78	3.94	0.44807	2.309000	0.43359	3.474000	0.38602	0.662000	0.56354	0.995000	0.38783	1.000000	0.68203	0.997000	0.79791	0.1766:0.0:0.8234:0.0	8.704	0.33507	935	0.14827	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	401.43	33	chr4	37245170	.	G	C	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=352;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=-0.492;SOR=0.665	GT:AD:DP:GQ:PL	0/1:33,17:50:99:413,0,773	9	0	1	0
chr4	37443522	37443522	A	G	exonic	NWD2	.	nonsynonymous SNV	NWD2:NM_001144990:exon7:c.A1534G:p.I512V	.	425	1079	16	2	0	20	0.00918274	.	.	.	709342	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0031	0.00479233	0.0082	0.0018	0.0048	0	0.0037	0.0046	0.0164	0.0158	0.0020375	315	154602	rs142523381	0.0052	0.0050	0.0048	0.0056	0.0176	0.0051	0.0051	0.0169	0.0166	0.0004	0.0040	0.0021	0	0.0027	0.0063	0.0048	0.0054	0.0176	0.0031	0.0031	0.0031	0.0032	0.0156	0.0029	0.0028	0.0127	0.0117	0.0009	0	0.0020	0.0014	0.0002	0.0021	0	0.0044	0.0043	0.0156	0.223	0.18757	T	0.388	0.15602	T	0.004	0.12183	B	0.007	0.12992	B	.	.	.	.	0.999858	0.49910	D	1.24	0.30952	L	-1.09	0.77206	T	-0.67	0.19297	N	0.282	0.31925	-0.8602	0.51249	T	0.184	0.53300	T	9	0.005728036	0.00128	T	.	.	.	0.184	0.45763	.	.	0.148003135375	0.14442	0.3334378922076684	0.33256	.	.	0.442216396332	0.30881	T	0.03827	0.24778	T	-0.414398	0.01859	T	-0.355057	0.38625	T	0.0159306943670325	0.00377	T	0.792821	0.43457	T	0.07329088	0.16366	0.08466118	0.19493	0.07329088	0.16365	0.08466118	0.19492	-4.192	0.26635	T	.	.	0.092	0.13690	B	.	.	2.201175	0.28072	17.68	0.98659946700863277	0.44317	0.85918	0.45108	D	AEBI	0.191013	0.31823	N	-0.35675028507783	0.27025	1.479511	-0.0900062375073974	0.35801	2.075695	0.900204061452854	0.26070	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.06	4.9	0.63643	3.391000	0.52271	7.110000	0.57563	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9316:0.0:0.0684:0.0	11.671	0.50665	934	0.15400	NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003614	0.000000	0.000000	0.004386	0.000000	0.000000	0.005882	0.025641	0.05	2283.43	159	chr4	37443522	.	A	G	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.679;DP=478;ExcessHet=0;FS=0.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.591;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	9	0	1	0
chr4	37446554	37446556	CTT	-	exonic	NWD2	.	nonframeshift deletion	NWD2:NM_001144990:exon7:c.4566_4568del:p.F1523del	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348019434	7.145e-06	6.84e-06	5.64e-06	8.693e-06	0.0002	3.61e-06	2.64e-06	8.193e-05	5.554e-05	0.0002	2.801e-05	0	0	0	0	9.268e-07	3.447e-05	0	1.972e-05	1.97e-05	0	4.035e-05	6.551e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	6.551e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2470.39	51	chr4	37446553	.	ACTT	A	2470.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.137;DP=534;ExcessHet=0;FS=5.186;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.7;ReadPosRankSum=0.71;SOR=0.456	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr4	37848627	37848627	A	G	exonic	PGM2	.	nonsynonymous SNV	PGM2:NM_018290:exon11:c.A1388G:p.Q463R	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0179435365599	.	0.000199681	0.0004	0	0	0	0	1.5e-05	0	0.0026	0.0002846	44	154602	rs556251474	0.0002	0.0002	7.761e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	1.799e-05	0.0002	0.0022	5.907e-05	5.905e-05	1.285e-05	0.0001	0.0017	3.074e-05	2.208e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0	0.0017	0.01	0.56456	D	0.09	0.40267	T	0.222	0.30359	B	0.392	0.44215	B	0.000008	0.62929	D	0.150619	0.998299	0.44734	D	2.64	0.77224	M	0.9	0.45248	T	-2.4	0.52776	N	0.624	0.63883	-0.6498	0.62723	T	0.230	0.59534	T	10	0.043755174	0.03258	T	0.017944	0.39831	T	0.218	0.51265	0.504	0.59770	0.708901879958	0.70636	0.7712569068279075	0.77075	0.080742506992	0.09089	0.491530299187	0.37650	T	0.814299	0.95392	D	-0.371276	0.03529	T	-0.311946	0.43448	T	0.269536168673879	0.23727	T	0.845215	0.52386	T	0.28094992	0.51139	0.34806928	0.60452	0.28094992	0.51139	0.34806928	0.60452	-7.571	0.58108	D	.	.	0.126	0.26825	B	.	.	3.645730	0.51717	23.1	0.99652832905394506	0.77442	0.97920	0.78131	D	AEFBI	0.851304	0.76816	D	0.330193387856091	0.57704	3.938832	0.372561111708039	0.59878	4.169591	0.999989455438125	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.69	4.48	0.53973	5.988000	0.70255	9.179000	0.79071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8731:0.0:0.0:0.1269	12.296	0.54164	802	0.44336	Alpha-D-phosphohexomutase, alpha/beta/alpha domain III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	960.43	34	chr4	37848627	.	A	G	960.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.238;DP=388;ExcessHet=0;FS=3.261;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-1.131;SOR=0.391	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	9	0	1	0
chr4	39082083	39082083	A	G	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon3:c.A641G:p.N214S,KLHL5:NM_001171654:exon4:c.A401G:p.N134S,KLHL5:NM_015990:exon4:c.A824G:p.N275S,KLHL5:NM_001007075:exon5:c.A824G:p.N275S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.842	0.213871151739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.375	0.91388	M	-1.2	0.79072	T	-4.52	0.79060	D	0.829	0.87373	0.637	0.92378	D	0.708	0.89973	D	10	0.9264952	0.91997	D	0.213871	0.87428	D	0.842	0.95063	.	.	0.946632873053	0.94607	0.7749814896640261	0.77448	0.974042105135	0.73489	0.792461276054	0.80816	T	0.298233	0.67080	T	0.146451	0.68935	D	-0.02741	0.68540	D	0.9960744861148	0.88617	D	0.999383	0.99784	D	0.5905283	0.72179	0.63602483	0.78750	0.5905283	0.72181	0.63602483	0.78750	-10.707	0.78555	D	.	.	0.96	0.90154	P	.;.;.;.;.	.;.;.;.;.	4.645778	0.74011	26.1	0.99892673576984214	0.96666	0.98828	0.87388	D	AEFBI	0.922476	0.89752	D	0.942024856736452	0.93660	12.18952	0.877187969780673	0.94501	12.80957	0.999999797831447	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	9.325000	0.96006	11.209000	0.89330	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.820	0.78406	504	0.75712	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1091.43	114	chr4	39082083	.	A	G	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.569;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	9	0	1	0
chr4	39103467	39103467	C	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon6:c.C1298T:p.T433I,KLHL5:NM_001171654:exon7:c.C1058T:p.T353I,KLHL5:NM_015990:exon7:c.C1481T:p.T494I,KLHL5:NM_001007075:exon8:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0171060478813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.18956	T	0.302	0.27414	T	0.099	0.25639	B	0.034	0.25434	B	0.000004	0.62929	D	0.139015	0.999995	0.58761	D	1.845	0.48678	L	-1.17	0.78199	T	-2.01	0.46337	N	0.493	0.54584	-0.4495	0.70417	T	0.407	0.75635	T	10	0.4312203	0.57503	T	0.017106	0.38673	T	0.391	0.70684	0.491	0.57732	0.820100026833	0.81840	0.3631764824442859	0.36231	1.03285227811	0.75478	0.845786809921	0.88977	D	0.391451	0.75137	T	0.125139	0.66884	D	-0.0580228	0.66470	T	0.713013164387373	0.41348	D	0.583442	0.38541	T	0.1350033	0.31347	0.20949835	0.45297	0.1350033	0.31347	0.20949835	0.45296	-6.397	0.49486	T	.	.	0.128	0.31906	B	.;.;.;.;.	.;.;.;.;.	3.265757	0.44684	22.0	0.97563225588543845	0.34637	0.86498	0.45790	D	AEFDGBHCI	0.595444	0.58999	D	0.112146592274767	0.47030	2.934403	0.269017039635714	0.53740	3.541396	0.999999945661135	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.42	5.42	0.78666	3.951000	0.56392	7.621000	0.62310	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.600	0.95551	512	0.75040	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	951.43	40	chr4	39103467	.	C	T	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.18;SOR=0.746	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr4	39253208	39253208	A	C	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon24:c.A2312C:p.Y771S,WDR19:NM_025132:exon25:c.A2792C:p.Y931S	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	177355	WDR19-related_disorder|Asphyxiating_thoracic_dystrophy_5|Cranioectodermal_dysplasia_4|not_specified|Connective_tissue_disorder|not_provided|Inborn_genetic_diseases|Senior-Loken_syndrome_8	.|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474|MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515|MedGen:CN169374|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.308	0.0187354246101	0.0042	0.000199681	0.0027	0.0010	0.0006	0	0.0008	0.0045	0	0	0.003053	472	154602	rs187546086	0.0059	0.0059	0.0061	0.0057	0.0075	0.0058	0.0058	0.0074	0.0073	0.0008	0.0006	0.0002	0	0.0009	0.0009	0.0075	0.0026	1.16e-05	0.0026	0.0026	0.0030	0.0022	0.0049	0.0024	0.0023	0.0045	0.0043	0.0009	0	0.0008	0.0003	0	0.0003	0	0.0049	0.0024	0	0.391	0.10802	T	0.391	0.15456	T	0.01	0.15535	B	0.014	0.16862	B	0.000414	0.44736	D	0.218883	0.960943	0.38208	D	1.555	0.39373	L	-0.95	0.75438	T	-1.98	0.45769	N	0.71	0.71321	-0.8576	0.51434	T	0.162	0.49797	T	10	0.022140175	0.00545	T	0.018735	0.40901	T	0.308	0.62947	.	.	0.757346685873	0.75514	0.5884470302530073	0.58774	0.244862958667	0.27001	0.6275370121	0.56796	T	0.239321	0.60741	T	-0.275185	0.11185	T	-0.162933	0.58086	T	0.0267074611073441	0.01503	T	0.893511	0.63097	D	0.14909469	0.34007	0.1524093	0.35859	0.14909469	0.34007	0.1524093	0.35858	-9.156	0.68695	D	0.20103367317567927	0.26698	0.086	0.10787	B	.	.	2.695859	0.35200	19.84	0.94431228058685213	0.24846	0.89927	0.50718	D	AEFI	0.276458	0.39119	N	-0.15617494317212	0.34971	2.002967	0.0518673362887906	0.42162	2.545428	0.0694882548357092	0.15492	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.49	5.49	0.81022	3.810000	0.55318	6.110000	0.53654	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7853:0.1414:0.0733:0.0	7.583	0.27144	390	0.83257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1107.43	43	chr4	39253208	.	A	C	1107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=402;ExcessHet=0;FS=3.007;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=-2.385;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr4	39255854	39255854	A	G	exonic	WDR19	.	nonsynonymous SNV	WDR19:NM_001317924:exon26:c.A2528G:p.E843G,WDR19:NM_025132:exon27:c.A3008G:p.E1003G	Nephronophthisis 13, Autosomal recessive;Senior-Loken syndrome 8, Autosomal recessive	3	1501	16	2	0	20	0.00661813	.	.	.	428297	Spermatogenic_failure_72|Senior-Loken_syndrome_8|Cranioectodermal_dysplasia_4|Asphyxiating_thoracic_dystrophy_5|Nephronophthisis_13|not_provided|Connective_tissue_disorder|WDR19-related_disorder|not_specified	MONDO:MONDO:0030809,MedGen:C5676980,OMIM:619867|MONDO:MONDO:0014579,MedGen:C4225376,OMIM:616307,Orphanet:3156|MONDO:MONDO:0013719,MedGen:C3280616,OMIM:614378,Orphanet:1515|MONDO:MONDO:0013717,MedGen:C3280598,OMIM:614376,Orphanet:474|MONDO:MONDO:0013718,MedGen:C3280612,OMIM:614377,Orphanet:655|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.112	0.0622311887704	0.0004	0.000798722	0.0025	0.0004	0.0027	0	0	0.0026	0.0023	0.0058	0.0011643	180	154602	rs201354264	0.0010	0.0010	0.0009	0.0011	0.0072	0.0009	0.0009	0.0055	0.0049	0.0002	0.0006	0.0008	0	0	0.0072	0.0009	0.0014	0.0033	0.0007	0.0006	0.0007	0.0006	0.0029	0.0005	0.0005	0.0018	0.0014	7.217e-05	0	0.0006	0.0003	0	9.413e-05	0.0034	0.0010	0.0009	0.0029	0.078	0.33923	T	0.13	0.34716	T	0.005	0.12996	B	0.008	0.13708	B	0.000735	0.42129	N	0.297639	0.999973	0.54805	D	2.19	0.61577	M	-0.23	0.66652	T	-1.69	0.40274	N	0.518	0.54845	-0.7783	0.56398	T	0.212	0.57307	T	10	0.009061396	0.00205	T	0.062231	0.68587	D	0.112	0.31546	.	.	0.636377056752	0.63338	0.3002132885359746	0.29934	0.200835374609	0.22483	0.540675997734	0.44540	T	0.203938	0.56255	T	-0.382651	0.02997	T	-0.324534	0.42076	T	0.0269710569503349	0.01540	T	0.717928	0.33070	T	0.07539297	0.16982	0.0989163	0.23598	0.07539297	0.16982	0.0989163	0.23597	-9.696	0.72072	D	0.2973125555671689	0.39441	0.080	0.07889	B	.	.	2.615635	0.33978	19.50	0.99210169084143907	0.55563	0.89377	0.49805	D	AEFBCI	0.537930	0.55553	D	-0.25351500826714	0.30963	1.731542	-0.0894304006294651	0.35826	2.077337	0.99992134151006	0.46280	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.654926	0.60358	0	.	.	5.92	3.36	0.37579	4.465000	0.59876	2.376000	0.32458	-0.076000	0.16278	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.8098:0.1238:0.0664:0.0	10.170	0.42078	390	0.83257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.005435	0.002941	0.000000	0.008621	0.000000	0.000000	0.05	979.43	42	chr4	39255854	.	A	G	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=416;ExcessHet=0;FS=1.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=2.19;SOR=0.958	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	9	0	1	0
chr4	40120569	40120569	A	G	exonic	N4BP2	.	nonsynonymous SNV	N4BP2:NM_018177:exon9:c.A2458G:p.N820D,N4BP2:NM_001318359:exon10:c.A2218G:p.N740D	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00434107935872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.16	0.31427	T	0.06	0.23119	B	0.027	0.21085	B	0.456243	0.12446	N	0.771715	1	0.08975	N	1.895	0.50365	L	2.24	0.17923	T	-0.49	0.15578	N	0.178	0.19190	-0.9883	0.33027	T	0.038	0.16246	T	10	0.04307902	0.03121	T	0.004341	0.10561	T	0.052	0.14661	0.161	0.06507	0.324436698001	0.32047	0.08687110061109517	0.08621	0.144424200517	0.16313	0.38363468647	0.22771	T	0.003495	0.02899	T	-0.346772	0.04933	T	-0.73589	0.04066	T	0.0806347532930434	0.10068	T	0.665633	0.27494	T	0.04120305	0.06024	0.03937454	0.04017	0.04120305	0.06023	0.03937454	0.04017	-3.26	0.13227	T	.	.	0.097	0.15698	B	.	.	1.293656	0.16946	12.86	0.97493405149801116	0.34256	0.11006	0.16343	N	AEDGBI	0.050578	0.08853	N	-0.687039644655033	0.16389	0.8346275	-0.702963965479512	0.16886	0.8954316	0.999978350865365	0.50053	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.12	3.95	0.44952	1.036000	0.29837	1.833000	0.29130	-0.095000	0.16041	0.058000	0.21700	0.000000	0.08366	0.086000	0.17578	0.6389:0.1866:0.1745:0.0	4.441	0.10997	428	0.80967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1955.43	70	chr4	40120569	.	A	G	1955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.464;DP=534;ExcessHet=0;FS=6.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-1.207;SOR=0.376	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1060	9	0	1	0
chr4	41982378	41982378	G	A	exonic	DCAF4L1	.	nonsynonymous SNV	DCAF4L1:NM_001029955:exon1:c.G586A:p.A196T	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.00982608711377	0.0017	0.000399361	0.0011	0.0005	0.0003	0	0	0.0016	0.0022	0.0005	0.0011837	183	154602	rs139209766	0.0017	0.0017	0.0017	0.0017	0.0021	0.0017	0.0016	0.0021	0.0020	0.0004	0.0005	0	0	3.744e-05	0.0021	0.0021	0.0009	0.0004	0.0010	0.0010	0.0011	0.0009	0.0019	0.0009	0.0008	0.0016	0.0015	0.0003	0	0.0002	0.0003	0	9.423e-05	0	0.0019	0.0014	0.0008	0.096	0.31088	T	0.289	0.21078	T	0.898	0.49442	P	0.137	0.33328	B	0.000784	0.41772	D	0.277345	0.633685	0.32813	D	1.905	0.50856	L	-0.47	0.70133	T	-1.46	0.35792	N	0.2	0.22098	-0.7554	0.57651	T	0.173	0.51579	T	10	0.011575431	0.00252	T	0.009826	0.25631	T	0.204	0.49076	.	.	0.134007934775	0.12933	0.2227637100081241	0.22191	0.855463859066	0.68732	0.322410464287	0.13786	T	0.049877	0.28434	T	-0.472268	0.00823	T	-0.464387	0.26123	T	0.0265638361312182	0.01483	T	0.90061	0.65471	D	0.05825504	0.11696	0.07129384	0.15251	0.05825504	0.11696	0.07129384	0.15251	-4.398	0.29530	T	.	.	0.110	0.21087	B	.	.	1.372553	0.17831	13.39	0.99227718504538742	0.56120	0.23523	0.22103	N	AEFDI	0.045072	0.07329	N	-0.396045955405243	0.25610	1.391463	-0.56531784014552	0.20400	1.098904	0.743928072783988	0.23255	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.688	0.688	0.17190	1.173000	0.31529	3.504000	0.38797	0.373000	0.20310	1.000000	0.71638	1.000000	0.68203	0.161000	0.20682	0.3493:0.0:0.6507:0.0	3.039	0.05762	598	0.68232	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	3606.43	43	chr4	41982378	.	G	A	3606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.661;DP=649;ExcessHet=0;FS=1.405;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.981;SOR=0.599	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr4	42893538	42893538	G	T	exonic	GRXCR1	.	nonsynonymous SNV	GRXCR1:NM_001080476:exon1:c.G272T:p.G91V	Deafness, autosomal recessive 25, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	173952	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_25|GRXCR1-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0013210,MedGen:C1414017,OMIM:613285,Orphanet:90636|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	0.00790688067224	0.0030	0.00279553	0.0051	0.0006	0.0017	0	0.0047	0.0061	0.0067	0.0087	0.0046118	713	154602	rs113203706	0.0045	0.0045	0.0042	0.0047	0.0109	0.0044	0.0044	0.0088	0.0080	0.0006	0.0028	0.0073	0	0.0043	0.0109	0.0044	0.0060	0.0082	0.0036	0.0036	0.0032	0.0040	0.0081	0.0033	0.0032	0.0061	0.0054	0.0008	0	0.0050	0.0084	0	0.0042	0.0102	0.0045	0.0028	0.0081	0.338	0.12796	T	0.42	0.14116	T	0.0	0.02946	B	0.001	0.04355	B	0.403506	0.13093	U	0.720289	0.999536	0.21028	N	0.895	0.22405	L	1.3	0.35590	T	-0.38	0.13418	N	0.186	0.20262	-1.0024	0.29226	T	0.074	0.30023	T	10	0.0068248212	0.00155	T	0.007907	0.20981	T	0.051	0.14325	.	.	0.21279746466	0.20884	0.7023987737389568	0.70180	0.0404129470778	0.04329	0.296552926302	0.09888	T	0.050399	0.28584	T	-0.606851	0.00132	T	-0.63949	0.09707	T	0.00404222462554798	0.00043	T	0.439856	0.12136	T	0.046149485	0.07674	0.058396593	0.10783	0.046149485	0.07674	0.058396593	0.10783	-2.956	0.09715	T	0.08242776387436643	0.04353	0.078	0.06896	B	.	.	0.665606	0.10342	7.069	0.92353461990523522	0.21755	0.43834	0.27185	N	AEFBI	0.122321	0.23741	N	-0.826282496098781	0.12641	0.6174501	-0.728622397824168	0.16250	0.8587279	1.33142710868807E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	1.06	0.19341	1.797000	0.38438	2.110000	0.30654	-0.816000	0.03012	0.965000	0.33920	0.980000	0.30356	0.780000	0.36908	0.0:0.4097:0.3797:0.2106	11.372	0.48947	853	0.34956	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014602	0.005051	0.010870	0.014620	0.000000	0.025862	0.030488	0.018939	0.05	1868.43	44	chr4	42893538	.	G	T	1868.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.477;DP=559;ExcessHet=0;FS=1.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.229;SOR=0.539	GT:AD:DP:GQ:PL	0/1:89,78:167:99:1880,0,2294	9	0	1	0
chr4	44689319	44689319	A	G	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345869:exon9:c.A140G:p.N47S,GUF1:NM_001345867:exon10:c.A140G:p.N47S,GUF1:NM_001345868:exon10:c.A1112G:p.N371S,GUF1:NM_021927:exon10:c.A1112G:p.N371S	.	419	1100	3	0	0	3	0.00136178	.	.	.	720983	not_provided|GUF1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	.	.	0.00419329	0.0041	0	0.0002	0	0.0002	3.009e-05	0.0011	0.0296	0.0034799	538	154602	rs201208012	0.0018	0.0018	0.0010	0.0026	0.0283	0.0017	0.0017	0.0273	0.0269	0	4.497e-05	0	2.53e-05	0	0.0010	4.868e-05	0.0018	0.0283	0.0009	0.0009	0.0005	0.0014	0.0276	0.0008	0.0008	0.0238	0.0223	4.816e-05	0	0	0	0	0	0	7.367e-05	0.0005	0.0276	0.276	0.15717	T	0.225	0.25514	T	0.006	0.13644	B	0.001	0.04355	B	0.000157	0.49130	D	0.212273	0.953701	0.37842	D	0.48	0.13178	N	-0.3	0.67874	T	0.26	0.04380	N	0.166	0.17553	-0.9138	0.46377	T	0.145	0.46914	T	10	0.0062912107	0.00142	T	.	.	.	0.112	0.31546	0.293	0.25560	0.608069465739	0.60492	0.2093205776464217	0.20848	0.0503481169464	0.05528	0.436070680618	0.30040	T	0.031328	0.21993	T	-0.574402	0.00208	T	-0.576235	0.14883	T	0.019502990308273	0.00654	T	0.933407	0.75038	D	0.028993798	0.02324	0.04297408	0.05241	0.028993798	0.02324	0.04297408	0.05241	-5.221	0.39155	T	0.10098784006852264	0.07513	0.058	0.00717	B	.	.	1.748827	0.22250	15.54	0.98364421329461849	0.40678	0.84645	0.43730	D	AEFBI	0.151523	0.27602	N	-0.271603272695231	0.30250	1.684917	-0.102607426977713	0.35285	2.039568	0.999879353286604	0.44625	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.52	3.06	0.34374	2.703000	0.46778	5.294000	0.48217	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.7766:0.1473:0.0761:0.0	7.248	0.25308	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006048	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.022727	0.05	681.43	40	chr4	44689319	.	A	G	681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.338;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.1;ReadPosRankSum=-1.633;SOR=0.69	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr4	44690732	44690732	G	A	exonic	GUF1	.	nonsynonymous SNV	GUF1:NM_001345869:exon11:c.G379A:p.E127K,GUF1:NM_001345867:exon12:c.G379A:p.E127K,GUF1:NM_001345868:exon12:c.G1351A:p.E451K,GUF1:NM_021927:exon12:c.G1351A:p.E451K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.027228511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.21634	T	0.151	0.32355	T	0.483	0.36807	P	0.084	0.29270	B	0.000000	0.84330	D	0.044648	0.999997	0.58761	D	1.425	0.35738	L	-0.44	0.69777	T	-1.02	0.26843	N	0.678	0.68516	-0.7650	0.57132	T	0.198	0.55343	T	10	0.44480088	0.58328	T	0.027229	0.50063	D	0.106	0.30130	0.438	0.49157	0.842945499789	0.84144	0.7515191998654405	0.75098	0.132474847726	0.14931	0.59063744545	0.51583	T	0.084903	0.37382	T	0.0267813	0.55294	T	-0.199307	0.54712	T	0.888736486434937	0.53936	D	0.928407	0.73561	D	0.27672786	0.50733	0.27259743	0.53172	0.27672786	0.50733	0.27259743	0.53171	-5.787	0.44461	T	0.25379783692869345	0.34329	0.178	0.38924	B	.	.	3.892468	0.56649	23.8	0.99677755678728241	0.79043	0.98934	0.88834	D	AEFGBI	0.692350	0.65204	D	0.241992807260551	0.53243	3.494207	0.388038753990774	0.60825	4.274781	0.999999999721605	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	5.334000	0.65697	11.725000	0.94886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1353:0.8647:0.0	15.891	0.79076	612	0.66786	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	777.43	33	chr4	44690732	.	G	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.264;DP=378;ExcessHet=0;FS=1.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.063;SOR=0.479	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,948	9	0	1	0
chr4	47643167	47643167	T	A	exonic	CORIN	.	nonsynonymous SNV	CORIN:NM_001278585:exon13:c.A1735T:p.S579C,CORIN:NM_001278586:exon14:c.A1936T:p.S646C,CORIN:NM_006587:exon15:c.A2047T:p.S683C	Preeclampsia/eclampsia 5	0	1483	37	2	0	41	0.0136349	.	.	.	799358	Preeclampsia/eclampsia_5|not_provided	MONDO:MONDO:0013817,MedGen:C3281288,OMIM:614595|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.617	.	0.0024	0.00219649	0.0034	0.0005	0.0009	0.0001	0.0005	0.0027	0.0022	0.0125	0.0032212	498	154602	rs144722161	0.0041	0.0041	0.0039	0.0044	0.0125	0.0040	0.0040	0.0118	0.0116	0.0005	0.0019	0.0008	5.039e-05	0.0005	0.0092	0.0040	0.0042	0.0125	0.0025	0.0025	0.0025	0.0024	0.0098	0.0023	0.0022	0.0075	0.0067	0.0005	0	0.0036	0.0020	0	0.0003	0	0.0034	0.0043	0.0098	0.006	0.63226	D	0.008	0.67890	D	0.999	0.77913	D	0.907	0.64423	P	0.007021	0.31644	N	0.371645	0.658238	0.38702	D	2.15	0.60148	M	-3.74	0.95493	D	-3.18	0.65397	D	0.531	0.57946	1.012	0.97389	D	0.891	0.96372	D	10	0.016170084	0.00340	T	.	.	.	0.617	0.85091	.	.	0.996126483672	0.99608	0.7308779753318358	0.73032	0.328817197517	0.34999	0.361546814442	0.19611	T	0.899451	0.98017	D	-0.183371	0.23234	T	-0.0251445	0.68690	D	0.0260425943509535	0.01412	T	0.837116	0.85735	T	0.14758348	0.33732	0.14285788	0.33971	0.16320157	0.36445	0.13279083	0.31855	-12.92	0.89031	D	.	.	0.239	0.53095	B	.;.;.;.;.;.	.;.;.;.;.;.	3.595535	0.50762	23.0	0.97281230887779913	0.33186	0.85771	0.44941	D	ALL	0.551415	0.56349	D	0.255324982985495	0.53902	3.557323	0.164724902045148	0.47928	3.015752	0.999995407326078	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.17	2.6	0.30173	2.896000	0.48355	0.002000	0.13306	-0.120000	0.14102	1.000000	0.71638	0.953000	0.29079	0.065000	0.16320	0.0:0.2528:0.0:0.7472	8.967	0.35042	417	0.81662	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.010870	0.020468	0.000000	0.000000	0.006098	0.007576	0.05	2039.43	34	chr4	47643167	.	T	A	2039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=464;ExcessHet=0;FS=6.977;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.093;SOR=1.207	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	9	0	1	0
chr4	47937463	47937463	C	T	exonic	CNGA1	.	nonsynonymous SNV	CNGA1:NM_001142564:exon10:c.G1019A:p.R340H,CNGA1:NM_000087:exon11:c.G1019A:p.R340H,CNGA1:NM_001379270:exon11:c.G1019A:p.R340H	Retinitis pigmentosa 49	0	1517	5	0	0	5	0.00164528	.	.	.	734653	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.651	.	.	0.00379393	0.0024	0.0001	0.0003	0.0003	0	3.001e-05	0.0011	0.0170	0.002031	314	154602	rs150374036	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0136	0.0133	0.0001	4.472e-05	0	0.0004	1.872e-05	0	8.993e-06	0.0011	0.0142	0.0004	0.0004	0.0002	0.0007	0.0120	0.0003	0.0003	0.0095	0.0087	2.406e-05	0	0	0	0.0014	0	0	0	0	0.0120	0.011	0.68238	D	0.032	0.53426	D	0.935	0.52277	P	0.49	0.47330	P	0.000000	0.84330	D	0.000000	0.998794	0.45457	D	2.455	0.71248	M	-4.6	0.97849	D	-1.78	0.71639	N	0.803	0.81658	0.672	0.92825	D	0.853	0.95091	D	10	0.010541469	0.00234	T	.	.	.	0.651	0.86836	.	.	0.989932466362	0.98982	0.7823465143156927	0.78185	0.573819230961	0.53428	0.550280332565	0.45897	T	0.464993	0.80032	T	-0.0829753	0.39229	T	0.121009	0.78301	D	0.0594007140863952	0.07074	T	0.869813	0.57430	D	0.49210852	0.66628	0.29644024	0.55676	0.4770012	0.65718	0.28146088	0.54127	-6.694	0.54012	T	.	.	0.172	0.37671	B	.;.;.;.;.	.;.;.;.;.	4.564725	0.71961	25.8	0.99780624830334352	0.86780	0.97678	0.76352	D	AEFGBI	0.931807	0.92120	D	0.113810350869522	0.47107	2.941075	0.0863322414810207	0.43860	2.679073	0.957144065817343	0.28287	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.77	3.93	0.44666	7.522000	0.80772	4.949000	0.46268	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.9214:0.0:0.0786	12.956	0.57824	380	0.83728	.;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1648.43	35	chr4	47937463	.	C	T	1648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.017;DP=472;ExcessHet=0;FS=3.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=2.2;SOR=0.999	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	9	0	1	0
chr4	48067638	48067638	C	G	exonic	TXK	.	stoploss	TXK:NM_003328:exon15:c.G1583C:p.X528S	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.29294	0.09343	T	-0.658565	0.08363	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.584058	0.09523	6.302	0.66881994369223285	0.08189	0.82640	0.41840	D	AEFDBI	.	.	.	0.245509567436155	0.53418	3.51065	0.0102926123987032	0.40192	2.394748	0.341507473387616	0.19588	0.162113	0.03585	0	0.097471	0.02872	0	0.063197	0.01477	0	0.24566	0.04862	0	0.268177	0.33586	4.95	3.21	0.35933	0.375000	0.20248	0.305000	0.17021	-0.190000	0.09434	0.937000	0.32526	0.988000	0.31051	0.147000	0.20199	0.0:0.8491:0.0:0.1509	12.452	0.55022	442	0.79946	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1082.43	35	chr4	48067638	.	C	G	1082.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.024;DP=419;ExcessHet=0;FS=3.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.621;SOR=0.428	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,989	9	0	1	0
chr4	48112500	48112500	G	A	exonic	TXK	.	nonsynonymous SNV	TXK:NM_003328:exon4:c.C187T:p.R63C	.	431	1085	6	0	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00547779230687	0.0050	0.00219649	0.0042	0.0009	0.0019	0	0.0044	0.0060	0.0045	0.0024	0.0041203	637	154602	rs41265727	0.0059	0.0060	0.0060	0.0059	0.0068	0.0058	0.0058	0.0067	0.0067	0.0009	0.0031	0.0033	0	0.0051	0.0024	0.0068	0.0047	0.0030	0.0038	0.0038	0.0040	0.0036	0.0062	0.0035	0.0034	0.0057	0.0055	0.0010	0	0.0035	0.0026	0	0.0035	0	0.0062	0.0038	0.0012	0.078	0.33923	T	0.132	0.34477	T	0.733	0.42736	P	0.17	0.35299	B	0.315326	0.04040	N	1.500250	1	0.08975	N	-0.41	0.02942	N	2.29	0.17113	T	0.1	0.18248	N	0.087	0.06454	-1.0063	0.28065	T	0.014	0.05705	T	10	0.0030056238	0.00049	T	0.005478	0.14106	T	0.098	0.28162	.	.	0.221734844693	0.21761	0.3686796770075476	0.36781	0.204015260203	0.22813	0.195248842239	0.00332	T	0.058345	0.30815	T	-0.560405	0.00252	T	-0.572914	0.15184	T	0.000484030030117538	0.00004	T	0.662834	0.27951	T	0.038413256	0.05112	0.04190465	0.04870	0.038413256	0.05111	0.04190465	0.04870	-4.677	0.33125	T	.	.	0.073	0.04681	B	.;.	.;.	0.954120	0.13303	9.806	0.81805356389293149	0.13868	0.01665	0.05332	N	AEFDBI	0.054709	0.09970	N	-1.59687758296496	0.01280	0.05571596	-1.65367779862303	0.01357	0.06127382	0.999997032179081	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.633917	0.49826	0	.	.	5.12	-3.84	0.03976	-0.093000	0.11077	0.079000	0.14366	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.5201:0.1048:0.3751:0.0	8.820	0.34180	430	0.80826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1244.43	35	chr4	48112500	.	G	A	1244.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=394;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.284;SOR=0.444	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr4	48483767	48483767	C	T	exonic	SLC10A4	.	nonsynonymous SNV	SLC10A4:NM_152679:exon1:c.C206T:p.T69M	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	.	0.00658946	0.0165	0	0	0	.	0	0	0.0220	0.0009508	147	154602	rs374329024	0.0010	0.0009	0.0005	0.0014	0.0165	0.0009	0.0009	0.0157	0.0154	0	3.246e-05	0	3.167e-05	0	0.0005	7.57e-06	0.0010	0.0165	0.0007	0.0007	0.0005	0.0010	0.0218	0.0006	0.0006	0.0184	0.0171	7.224e-05	0	0	0	0.0002	0	0	0	0	0.0218	0.003	0.68238	D	0.011	0.64786	D	0.047	0.21998	B	0.007	0.12992	B	0.047410	0.23347	N	0.350966	1	0.08975	N	0.975	0.24501	L	2.99	0.09262	T	0.29	0.04161	N	0.16	0.16725	-0.9913	0.32270	T	0.015	0.06042	T	10	0.0021141768	0.00030	T	.	.	.	0.093	0.26882	0.136	0.04008	0.0806252709748	0.07271	0.29371811127618297	0.29284	1.67667789965	0.89930	0.818591594696	0.84812	D	0.004709	0.04123	T	-0.630224	0.00095	T	-0.665076	0.07928	T	0.0656927094233596	0.08033	T	0.612939	0.23352	T	0.042607393	0.06493	0.11360012	0.27418	0.042607393	0.06493	0.11360012	0.27417	-5.823	0.44774	T	.	.	0.119	0.24599	B	.	.	2.420505	0.31122	18.65	0.99688987081169533	0.79775	0.09582	0.15306	N	AEFDBCI	0.034528	0.04293	N	-0.724284994620243	0.15340	0.7722555	-0.709420717616942	0.16726	0.8861795	0.999999965334641	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.09	2.16	0.26663	0.724000	0.25624	0.857000	0.22192	0.464000	0.21668	0.016000	0.19238	0.004000	0.18990	0.665000	0.33109	0.2112:0.3766:0.2075:0.2047	0.788	0.00985	211	0.91797	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003811	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	270.43	26	chr4	48483767	.	C	T	270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=242;ExcessHet=0;FS=4.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=-0.568;SOR=0.525	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,494	9	0	1	0
chr4	48553248	48553248	T	C	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon36:c.A4402G:p.T1468A	.	435	1057	30	0	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0004	0.00159744	0.0038	0.0002	0.0009	0	0.0057	0.0011	0.0056	0.0202	0.0032147	497	154602	rs201826654	0.0022	0.0022	0.0016	0.0028	0.0198	0.0021	0.0021	0.0190	0.0187	0.0003	0.0005	0.0009	5.04e-05	0.0079	0.0092	0.0007	0.0021	0.0198	0.0016	0.0016	0.0011	0.0021	0.0126	0.0014	0.0014	0.0101	0.0092	0.0002	0	0.0007	0	0	0.0094	0.0034	0.0009	0.0009	0.0126	0.164	0.23360	T	0.253	0.23501	T	0.092	0.59044	B	0.065	0.72923	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	1.9	0.44461	T	-2.49	0.54217	N	0.491	0.52918	-0.9071	0.47203	T	0.185	0.53481	T	10	0.008763969	0.00198	T	.	.	.	0.180	0.45073	.	.	0.354648800996	0.35079	0.5675465522245963	0.56682	0.387626592147	0.40038	0.555667221546	0.46655	T	0.230074	0.59606	T	-0.219986	0.17994	T	-0.072514	0.65446	T	0.0774891752752781	0.09663	T	0.856014	0.54441	D	0.093174316	0.21878	0.14065778	0.33522	0.093174316	0.21878	0.14065778	0.33521	-3.88	0.22002	T	.	.	0.091	0.16538	B	.;.;.	.;.;.	3.154228	0.42713	21.6	0.98891657941019728	0.48019	0.96157	0.67794	D	AEFDBI	0.641293	0.61868	D	0.295643881416598	0.55927	3.756885	0.405890105144516	0.61932	4.400382	0.999999999901362	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.930000	0.69823	2.843000	0.35092	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.0:1.0	16.609	0.84711	130	0.94779	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.004076	0.008772	0.000000	0.008621	0.015244	0.037879	0.05	568.43	33	chr4	48553248	.	T	C	568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.572;DP=360;ExcessHet=0;FS=1.222;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.547;SOR=0.473	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1094	9	0	1	0
chr4	49032572	49032572	G	C	exonic	CWH43	.	nonsynonymous SNV	CWH43:NM_001286791:exon12:c.G1434C:p.M478I,CWH43:NM_025087:exon12:c.G1515C:p.M505I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0779275778063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.047	0.48855	D	0.228	0.30509	B	0.121	0.32300	B	0.000000	0.84330	D	0.000000	0.99896	0.45775	D	0.345	0.11182	N	-1.36	0.80125	T	-0.97	0.25770	N	0.799	0.79503	-0.5307	0.67515	T	0.363	0.72392	T	9	0.7994745	0.79371	D	0.077928	0.72886	D	0.414	0.72479	0.731	0.86460	0.50343701615	0.49981	0.5260420039135627	0.52528	0.111390099725	0.12571	0.770817160606	0.77547	T	0.113524	0.43063	T	0.165946	0.70751	D	0.000593857	0.70375	D	0.68201094865799	0.39880	D	0.868913	0.57225	D	0.5129676	0.67852	0.48658457	0.70286	0.5129676	0.67853	0.48658457	0.70286	-5.866	0.45144	T	.	.	0.644	0.71395	P	.;.	.;.	3.764817	0.54042	23.4	0.87183111966883142	0.17046	0.94226	0.60497	D	AEFDGBHCI	0.537288	0.55515	D	-0.0356160171760246	0.40248	2.38691	0.0853970541895103	0.43811	2.675379	0.999999991809582	0.74766	0.55562	0.30534	0	0.615948	0.52940	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.24	5.24	0.72863	4.558000	0.60498	9.545000	0.80969	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:1.0:0.0	16.788	0.85441	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2344.43	36	chr4	49032572	.	G	C	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.364;DP=482;ExcessHet=0;FS=1.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.766;SOR=0.57	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr4	52744235	52744235	G	A	exonic	ERVMER34-1	.	nonsynonymous SNV	ERVMER34-1:NM_001242690:exon3:c.C1286T:p.P429L,ERVMER34-1:NM_024534:exon4:c.C1286T:p.P429L	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00139776	0.0019	0.0008	0.0065	0	0.1667	0.0023	0.0057	0.0017	0.0006533	101	154602	rs141114710	0.0047	0.0042	0.0050	0.0045	0.0172	0.0046	0.0045	0.0139	0.0128	0.0009	0.0022	0.0006	6.23e-05	0.0292	0.0172	0.0036	0.0051	0.0021	0.0049	0.0049	0.0038	0.0060	0.0033	0.0046	0.0045	0.0029	0.0028	0.0007	0.1286	0.0022	0.0012	0.0006	0.0296	0.0170	0.0033	0.0047	0.0015	.	.	.	0.0	0.92824	D	0.016	0.17332	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.03	0.08898	T	.	.	.	0.341	0.38232	.	.	.	.	.	.	.	0.0032551587	0.00056	T	.	.	.	.	.	.	.	0.227934060464	0.22382	0.671597211123151	0.67097	.	.	0.207218885422	0.00699	T	4.57E-4	0.00158	T	-0.595423	0.00155	T	-0.624335	0.10848	T	.	.	.	0.533547	0.17787	T	0.018549057	0.00377	0.049285304	0.07500	0.018549057	0.00376	0.049285304	0.07500	-0.845	0.00843	T	.	.	0.136	0.32202	B	.;.	.;.	-0.934741	0.00869	0.031	0.65350738182465162	0.07748	0.00688	0.02942	N	AEFBCI	0.039389	0.05713	N	.	.	.	.	.	.	0.0022410180715896	0.09253	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.530356	0.10902	0	.	.	2.06	-4.06	0.03718	-1.959000	0.01609	-3.025000	0.03129	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2758:0.34:0.2134:0.1708	0.807	0.01016	333	0.86326	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019231	0.019231	0.000000	0.024691	0.000000	0.000000	0.013699	0.015625	0.1	5924.12	177	chr4	52744235	.	G	A	5924.12	.	AC=2;AF=0.1;AN=20;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.47;SOR=0.875	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1376	9	1	0	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	151.14	113	chr4	53145477	.	T	C	151.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.836;DP=844;ExcessHet=0.2348;FS=106.627;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.28;SOR=7.546	GT:AD:DP:GQ:PL	0/0:65,0:65:23:0,23,1443	8	0	2	0
chr4	53461044	53461044	-	AA	splicing	LNX1	NM_001126328:exon11:c.2052-2->TT;NM_032622:exon10:c.1764-2->TT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	0.00599042	0.0051	0.0216	0.0024	0.0020	0	0.0005	0.0030	0.0172	0.0003074	8	26028	rs60909872	0.0028	0.0069	0.0024	0.0032	0.0273	0.0027	0.0027	0.0255	0.0248	0.0273	0.0027	0.0014	0.0044	0.0003	0.0055	0.0009	0.0043	0.0185	0.0060	0.0060	0.0059	0.0060	0.0200	0.0057	0.0055	0.0189	0.0184	0.0200	0	0.0026	0	0	0.0001	0	7.6e-05	0.0050	0.0036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1015.77	29	chr4	53461044	.	T	TAA	1015.77	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=341;ExcessHet=1.5895;FS=9.894;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.667;SOR=1.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:32:90:.:.:0,90,1350:.	9	0	1	0
chr4	54100558	54100558	T	C	exonic	GSX2	.	nonsynonymous SNV	GSX2:NM_133267:exon1:c.T214C:p.S72P	.	400	1119	1	0	2	3	0.000446628	.	.	.	2717185	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.302641875118	.	.	9.093e-05	0	0.0002	0	0	0	0	0.0004	3.88e-05	6	154602	rs768017023	2.278e-05	2.257e-05	1.509e-05	3.057e-05	0.0007	1.625e-05	1.429e-05	0.0002	0.0001	0	0	0	0	0	0.0007	9.032e-06	3.34e-05	0.0002	1.979e-05	1.973e-05	2.579e-05	1.35e-05	4.417e-05	5.26e-06	2.46e-06	1.173e-05	6.25e-06	0	0	0	0	0	0	0	4.417e-05	0	0	0.354	0.31235	T	0.316	0.19362	T	0.0	0.02946	B	0.001	0.04355	B	0.009724	0.30227	N	0.351818	1	0.81001	D	1.295	0.32453	L	-1.23	0.78860	T	0.59	0.17210	N	0.136	0.23506	-0.9500	0.40972	T	0.189	0.54019	T	10	0.09043315	0.15752	T	0.302642	0.90932	D	0.097	0.27909	0.28	0.23483	0.739439129335	0.73710	0.25534270004210907	0.25448	0.983718987563	0.73833	0.782930254936	0.79371	T	0.073758	0.34775	T	-0.349537	0.04756	T	-0.445028	0.28246	T	0.0251934584230185	0.01298	T	0.559344	0.19537	T	0.21815147	0.44316	0.12904999	0.31038	0.21815147	0.44316	0.12904999	0.31037	-3.314	0.13919	T	.	.	0.102	0.17785	B	.;.;.	.;.;.	2.157323	0.27483	17.48	0.93738499757279048	0.23672	0.73104	0.35764	D	AEFDBHCI	0.275735	0.39063	N	-0.645301953357638	0.17596	0.9068645	-0.498420209966513	0.22197	1.204475	0.999886116618372	0.44867	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.52	1.86	0.24489	0.721000	0.25580	0.146000	0.15234	0.519000	0.23678	0.767000	0.29322	0.012000	0.20211	0.968000	0.53726	0.0:0.0898:0.251:0.6592	6.882	0.23358	581	0.69614	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	731.43	48	chr4	54100558	.	T	C	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.051;DP=500;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.025;SOR=0.922	GT:AD:DP:GQ:PL	0/1:35,32:67:99:743,0,844	9	0	1	0
chr4	55959703	55959703	A	C	exonic	CEP135	.	nonsynonymous SNV	CEP135:NM_025009:exon6:c.A636C:p.E212D	.	.	.	.	.	.	.	.	.	.	.	207122	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.175	.	0.0002	0.00139776	0.0018	0	0	0.0023	0.0165	0.0012	0.0088	0.0003	0.0014812	229	154602	rs76941356	0.0008	0.0008	0.0008	0.0008	0.0042	0.0008	0.0008	0.0037	0.0035	0	2.236e-05	0	0.0042	0.0145	0.0002	0.0001	0.0013	0.0006	0.0015	0.0015	0.0007	0.0024	0.0037	0.0014	0.0013	0.0024	0.0020	0	0	0	0	0.0037	0.0182	0	0.0002	0	0.0014	0.116	0.29029	T	0.251	0.23638	T	0.997	0.70673	D	0.885	0.62825	P	0.000000	0.84330	D	0.052714	0.955715	0.43003	D	1.745	0.45235	L	0.6	0.53731	T	-2.0	0.46146	N	0.113	0.28732	-0.6319	0.63490	T	0.282	0.65350	T	10	0.00460732	0.00096	T	.	.	.	0.175	0.44197	0.099	0.01433	0.646850752827	0.64392	0.6351119569953729	0.63445	0.251755120529	0.27752	0.488244026899	0.37194	T	0.023593	0.17984	T	-0.396993	0.02423	T	-0.346394	0.39619	T	0.04095710092542	0.03863	T	0.80472	0.45334	T	0.17123732	0.37746	0.17740516	0.40340	0.16657594	0.37001	0.18162265	0.41036	-6.3	0.48722	T	.	.	0.182	0.39596	B	.;.	.;.	2.141521	0.27274	17.41	0.99129589597126089	0.53222	0.76127	0.37314	D	AEFBCI	0.184522	0.31185	N	0.176201410251694	0.50057	3.199559	0.17120673194429	0.48277	3.045764	0.016922862607621	0.12891	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	3.53	0.39533	2.252000	0.42849	3.563000	0.39095	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9234:0.0:0.0766:0.0	10.819	0.45795	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	954.43	35	chr4	55959703	.	A	C	954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.449;DP=428;ExcessHet=0;FS=2.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.16;ReadPosRankSum=-0.421;SOR=0.454	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1130	9	0	1	0
chr4	56314535	56314535	A	G	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon8:c.A1033G:p.R345G	.	356	1124	39	3	0	45	0.0196249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0033	0.00678914	0.0128	0.0012	0.0152	0	0.02	0.0157	0.0147	0.0141	0.003758	581	154602	rs181288707	0.0101	0.0097	0.0100	0.0101	0.0316	0.0099	0.0099	0.0271	0.0254	0.0025	0.0093	0.0059	0	0.0023	0.0316	0.0112	0.0099	0.0071	0.0085	0.0085	0.0083	0.0087	0.0159	0.0081	0.0080	0.0142	0.0136	0.0023	0.0518	0.0159	0.0081	0	0.0013	0.0621	0.0114	0.0162	0.0077	0.012	0.54683	D	0.247	0.23984	T	0.96	0.55278	D	0.643	0.52216	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.52	0.01997	T	-2.69	0.58407	D	0.076	0.06990	-0.8846	0.49390	T	0.005	0.01506	T	9	0.004870236	0.00104	T	.	.	.	0.050	0.13987	.	.	0.193865811164	0.18958	0.04833071238415083	0.04776	0.351719312492	0.37009	0.401592552662	0.25290	T	0.013176	0.25379	T	-0.607411	0.00131	T	-0.634249	0.10094	T	0.0371497133714363	0.03182	T	0.513749	0.25428	T	0.15109834	0.34367	0.23682012	0.48963	0.15109834	0.34366	0.23682012	0.48962	-8.088	0.61669	D	.	.	0.164	0.48837	B	.;.;.;.;.	.;.;.;.;.	0.432212	0.08027	4.745	0.8199269451612442	0.13964	0.38591	0.26023	N	AEFDBCI	0.196794	0.32375	N	-0.471405951265528	0.23022	1.23333	-0.612543006750399	0.19170	1.027386	0.999877986188953	0.44625	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.97	1.2	0.20181	-1.893000	0.01700	-5.867000	0.01570	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7855:0.0:0.2145:0.0	8.674	0.33327	283	0.88803	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.040919	0.011111	0.042056	0.032051	0.000000	0.037037	0.043919	0.045833	0.1	946.12	24	chr4	56314535	.	A	G	946.12	.	AC=2;AF=0.1;AN=20;DP=209;ExcessHet=0;FS=0;InbreedingCoeff=0.9996;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.52;SOR=0.756	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	9	1	0	0
chr4	56347711	56347711	G	A	exonic	AASDH	.	stopgain	AASDH:NM_001323890:exon12:c.C2512T:p.Q838X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	50	chr4	56347711	.	G	A	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.795;DP=381;ExcessHet=0;FS=2.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=-0.883;QD=13.89;ReadPosRankSum=1.93;SOR=0.412	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1290	9	0	1	0
chr4	56474105	56474105	G	T	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon4:c.G406T:p.V136F,SRP72:NM_006947:exon4:c.G406T:p.V136F	Bone marrow failure syndrome 1, Autosomal dominant	3	1514	2	1	2	6	0.00131926	.	.	.	4076537	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0128236642508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.639	0.40375	P	0.141	0.33616	B	0.000000	0.84330	D	0.048685	0.998809	0.45475	D	-0.09	0.04745	N	1.1	0.39050	T	-3.17	0.64363	D	0.651	0.68342	-1.1095	0.03113	T	0.042	0.18035	T	10	0.29968792	0.47520	T	0.012824	0.31723	T	0.165	0.42395	0.468	0.54052	0.602640947006	0.59946	0.5491531323333341	0.54841	0.412474241758	0.41986	0.710250258446	0.68630	T	0.113314	0.43025	T	-0.0117343	0.50023	T	-0.254632	0.49359	T	0.891661062357699	0.54265	D	0.959504	0.93000	D	0.73876	0.80221	0.5243896	0.72522	0.73876	0.80223	0.5243896	0.72522	-13.343	0.90727	D	0.3435675734242427	0.44119	0.584	0.68202	P	.;.;.;.	.;.;.;.	4.464024	0.69498	25.4	0.99410474259761716	0.63263	0.91426	0.53509	D	AEFBCI	0.879122	0.80483	D	0.110192707738909	0.46938	2.926596	0.2870897355134	0.54785	3.642521	0.999314530338151	0.39113	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	4.38	0.52019	7.723000	0.83751	7.486000	0.59313	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.2535:0.0:0.7465:0.0	4.878	0.13023	526	0.73951	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	958.43	35	chr4	56474105	.	G	T	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.585;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.573;SOR=0.738	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	9	0	1	0
chr4	56483185	56483185	C	T	exonic	SRP72	.	nonsynonymous SNV	SRP72:NM_001267722:exon7:c.C689T:p.A230V,SRP72:NM_006947:exon9:c.C872T:p.A291V	Bone marrow failure syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	428310	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0379004179736	.	.	3.307e-05	9.756e-05	0	0	0	3.007e-05	0.0011	0	2.59e-05	4	154602	rs758054768	3.358e-05	3.352e-05	3.546e-05	3.168e-05	0.0002	2.57e-05	2.316e-05	4.369e-05	2.774e-05	5.99e-05	0.0001	0	0	0	0.0002	2.789e-05	0.0001	1.161e-05	2.63e-05	2.627e-05	1.285e-05	4.039e-05	0.0002	8.15e-06	5.14e-06	5.29e-05	2.836e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.098	0.47745	T	0.133	0.40586	T	0.868	0.47740	P	0.254	0.39164	B	0.000000	0.84330	D	0.048429	1	0.81001	D	1.73	0.44655	L	-1.03	0.76430	T	-2.03	0.47008	N	0.62	0.63883	-0.3009	0.74960	T	0.388	0.74290	T	10	0.36367595	0.52932	T	0.038	0.57897	D	0.340	0.66202	.	.	0.854233808864	0.85283	0.3762421920644524	0.37538	0.274470700869	0.29939	0.823335528374	0.85539	D	0.061696	0.31723	T	0.00515683	0.52363	T	-0.122712	0.61579	T	0.153386041522026	0.17370	T	0.849515	0.53247	T	0.21706635	0.44180	0.1931633	0.42870	0.21706635	0.44180	0.1931633	0.42869	-6.694	0.51765	T	0.2494703075829077	0.33773	0.374	0.58084	A	.;.;.	.;.;.	4.120087	0.61574	24.4	0.9989102833043455	0.96513	0.98088	0.79496	D	AEFBI	0.907947	0.86263	D	0.55812180597337	0.70579	5.522128	0.631824345049888	0.77261	6.64583	0.999999999924978	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	7.816000	0.84708	6.015000	0.52706	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.357	0.87229	559	0.71409	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1728.43	131	chr4	56483185	.	C	T	1728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.871;DP=454;ExcessHet=0;FS=7.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-1.126;SOR=0.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1056	9	0	1	0
chr4	56596552	56596552	T	A	exonic	THEGL	.	nonsynonymous SNV	THEGL:NM_001256475:exon7:c.T1028A:p.I343N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0197332335011	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867765210	2.751e-05	2.599e-05	2.287e-05	3.227e-05	0.0026	2.045e-05	1.79e-05	0.0016	0.0013	0	8.52e-05	0	0	0	0.0026	1.484e-05	3.461e-05	2.534e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0010	0	0.001	0.78490	D	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.845	0.48678	L	1.01	0.41058	T	-4.88	0.81350	D	0.9	0.90025	.	.	.	.	.	.	.	0.8724079	0.86513	D	0.019733	0.42166	T	.	.	.	.	0.72159696503	0.71914	0.5377875395438697	0.53703	.	.	0.526238679886	0.42504	T	0.104015	0.41321	T	-0.108732	0.34978	T	-0.263512	0.48473	T	.	.	.	0.677032	0.28590	T	0.5900888	0.72155	0.5595434	0.74517	0.5900888	0.72157	0.5595434	0.74518	-9.334	0.69821	D	.	.	0.380	0.58422	A	.	.	2.806225	0.36928	20.4	0.99336964696335039	0.60012	0.57168	0.30306	D	AEDI	0.081946	0.16586	N	.	.	.	.	.	.	1.17913618149088E-4	0.05269	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.79	3.57	0.40014	0.500000	0.22270	-0.069000	0.12322	0.665000	0.62972	0.610000	0.27830	0.006000	0.19429	0.751000	0.35822	0.0:0.0982:0.0:0.9018	7.533	0.26862	864	0.32732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1915.43	35	chr4	56596552	.	T	A	1915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.842;DP=468;ExcessHet=0;FS=1.245;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.947;SOR=0.738	GT:AD:DP:GQ:PL	0/1:72,88:160:99:1927,0,1560	9	0	1	0
chr4	65669679	65669679	G	T	exonic	EPHA5	.	nonsynonymous SNV	EPHA5:NM_001281765:exon1:c.C64A:p.P22T,EPHA5:NM_001281766:exon1:c.C64A:p.P22T,EPHA5:NM_001281767:exon1:c.C64A:p.P22T,EPHA5:NM_004439:exon1:c.C64A:p.P22T,EPHA5:NM_182472:exon1:c.C64A:p.P22T	.	415	1106	0	1	0	2	0.000903342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0370798578078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.026e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.331	0.21478	T	0.001	0.07471	B	0.003	0.10090	B	0.091205	0.20337	N	0.360102	1	0.08975	N	0	0.06538	N	-0.57	0.71895	T	-0.94	0.25118	N	0.347	0.38848	-1.0406	0.17132	T	0.131	0.44188	T	10	0.10370302	0.19079	T	0.03708	0.57392	D	0.074	0.21613	0.117	0.02508	0.695720267042	0.69309	0.25924828935521343	0.25838	0.630853255338	0.57057	0.782312273979	0.79277	T	0.07654	0.35442	T	-0.114624	0.34007	T	-0.402426	0.33103	T	0.0906344254905335	0.11293	T	0.839416	0.51368	T	0.05260058	0.09834	0.050977416	0.08110	0.05260058	0.09834	0.050977416	0.08110	-4.454	0.30876	T	.	.	0.070	0.03811	B	.;.;.;.;.;.	.;.;.;.;.;.	2.602130	0.33775	19.44	0.99326252581676788	0.59584	0.25272	0.22649	N	AEFDBCI	0.039155	0.05648	N	-0.929881315016334	0.10148	0.483578	-0.916849936584017	0.11697	0.597485	0.999528622668903	0.40175	0.455138	0.09556	0	0.59043	0.45803	0	0.608004	0.38603	0	0.56751	0.32155	0	.	.	4.83	-0.156	0.12736	0.863000	0.27567	-0.141000	0.11517	0.672000	0.70159	0.341000	0.25683	0.000000	0.08366	0.403000	0.26849	0.2829:0.316:0.4011:0.0	4.293	0.10333	935	0.14827	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	939.43	34	chr4	65669679	.	G	T	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.757;DP=368;ExcessHet=0;FS=3.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.002;SOR=1.303	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,993	9	0	1	0
chr4	67514184	67514184	T	C	exonic	CENPC	.	nonsynonymous SNV	CENPC:NM_001362481:exon8:c.A1334G:p.H445R,CENPC:NM_001812:exon8:c.A1334G:p.H445R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00111881680744	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271363575	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.589	0.08245	T	0.0	0.02946	B	0.0	0.01387	B	0.378869	0.13418	N	0.679610	1	0.08975	N	-0.69	0.01958	N	.	.	.	-0.89	0.24026	N	0.036	0.01068	-1.0159	0.25045	T	0.039	0.16634	T	9	0.06154248	0.07733	T	0.001119	0.01360	T	0.051	0.14325	0.17	0.07536	0.284150004643	0.28039	0.029363949244043196	0.02885	0.0477508610535	0.05213	0.317699193954	0.13072	T	0.048582	0.28058	T	-0.33766	0.05552	T	-0.722802	0.04662	T	0.0252280141253597	0.01303	T	0.428457	0.11587	T	0.023274692	0.01054	0.035247035	0.02741	0.023274692	0.01053	0.035247035	0.02740	-3.49	0.16292	T	.	.	0.066	0.02257	B	.	.	1.027538	0.14072	10.64	0.18757857877686127	0.00604	0.15770	0.19073	N	AEFGBI	0.035247	0.04504	N	-1.41295351287068	0.02524	0.111583	-1.36242498467496	0.03662	0.1712635	0.0155185246250417	0.12722	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.88	2.67	0.30756	1.861000	0.39078	-0.052000	0.12533	-0.122000	0.13826	0.097000	0.22731	0.401000	0.24711	0.001000	0.02609	0.0:0.1067:0.0:0.8933	8.345	0.31425	917	0.20147	CENP-C, middle DNMT3B-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	633.43	65	chr4	67514184	.	T	C	633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.671;DP=372;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-1.554;SOR=0.988	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1007	9	0	1	0
chr4	67931993	67931993	G	A	exonic	TMPRSS11A	.	nonsynonymous SNV	TMPRSS11A:NM_001114387:exon4:c.C320T:p.T107I,TMPRSS11A:NM_182606:exon4:c.C329T:p.T110I	.	429	1088	5	0	0	5	0.00229253	0.0175	0.194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0182138175605	7.7e-05	.	0.0005	0	0.0002	0	0	7.509e-05	0.0022	0.0030	0.0003881	60	154602	rs151094571	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0002	0.0028	0.0027	0	8.969e-05	0	2.527e-05	1.878e-05	0.0007	0.0001	0.0001	0.0031	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	4.819e-05	0.0121	0	0	0	9.47e-05	0	0.0002	0	0.0021	0.054	0.38633	T	0.053	0.48080	T	.	.	.	.	.	.	0.000018	0.62929	D	0.000000	0.798486	0.34479	D	.	.	.	1.05	0.39990	T	-3.01	0.64478	D	0.47	0.50598	-0.9094	0.46928	T	0.106	0.38636	T	9	0.012391746	0.00266	T	0.018214	0.40197	T	0.127	0.34888	.	.	0.431712495121	0.42787	0.3987622539140241	0.39791	0.128422897595	0.14478	0.491270422935	0.37615	T	.	.	.	-0.460983	0.00969	T	-0.438311	0.28997	T	0.126962312563578	0.15098	T	0.525248	0.17252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.;.;.	.;.;.	2.358701	0.30252	18.38	0.9958055083326286	0.72980	0.70469	0.34603	D	AEFBI	0.194504	0.32159	N	0.0800884749148915	0.45534	2.808366	0.165303739972639	0.47958	3.018427	0.634030320901188	0.21994	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	4.37	0.51830	1.616000	0.36543	0.628000	0.20199	-0.105000	0.15698	1.000000	0.71638	0.997000	0.33255	0.919000	0.45453	0.1625:0.0:0.8375:0.0	9.472	0.38009	797	0.45241	.;SEA domain|SEA domain;SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	571.43	34	chr4	67931993	.	G	A	571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=0.46;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	9	0	1	0
chr4	68068744	68068744	C	T	exonic	TMPRSS11F	.	nonsynonymous SNV	TMPRSS11F:NM_207407:exon7:c.G629A:p.R210K	.	340	1171	11	0	0	11	0.00467488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0011	0.00359425	0.0028	0	0.0002	0	0	0.0019	0.0044	0.0123	0.0026002	402	154602	rs146652094	0.0026	0.0026	0.0023	0.0028	0.0118	0.0025	0.0025	0.0112	0.0109	0.0002	0.0002	3.826e-05	2.519e-05	0.0003	0.0033	0.0023	0.0023	0.0118	0.0016	0.0016	0.0016	0.0016	0.0101	0.0014	0.0014	0.0079	0.0071	0.0004	0.0121	0.0003	0	0	0.0002	0	0.0023	0.0014	0.0101	0.972	0.02043	T	0.36	0.16964	T	0.047	0.21998	B	0.061	0.26820	B	0.003580	0.34767	N	0.197117	1	0.08975	N	0.46	0.12951	N	-2.36	0.88143	D	-0.43	0.14390	N	0.232	0.26111	-0.8141	0.54300	T	0.210	0.57041	T	10	0.005112022	0.00111	T	.	.	.	0.181	0.45247	.	.	0.617224619168	0.61412	0.560962303913896	0.56023	0.123739431826	0.13926	0.320051193237	0.13429	T	0.117911	0.43834	T	-0.361966	0.04020	T	-0.281685	0.46630	T	0.00811350242353398	0.00097	T	0.30297	0.05734	T	0.066040516	0.14171	0.05269963	0.08732	0.066040516	0.14170	0.05269963	0.08731	-3.159	0.11986	T	.	.	0.073	0.04558	B	.	.	1.184490	0.15755	12.08	0.58894590845279449	0.06098	0.04668	0.10345	N	AEFDI	0.093650	0.18946	N	-0.85174137210942	0.12007	0.5827035	-0.687720839081708	0.17268	0.9173849	0.0704932711147111	0.15530	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	3.1	0.34780	0.974000	0.29033	.	.	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.932000	0.46971	0.1526:0.5352:0.2178:0.0944	3.419	0.06960	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.05	918.43	33	chr4	68068744	.	C	T	918.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.35;DP=426;ExcessHet=0;FS=3.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=-0.793;SOR=0.419	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	9	0	1	0
chr4	68476303	68476303	G	A	exonic	TMPRSS11E	.	nonsynonymous SNV	TMPRSS11E:NM_014058:exon7:c.G572A:p.R191K	.	432	1073	16	1	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0015	0.0191693	0.0099	0.0034	0.0025	0.0350	0.0192	0.0022	0.0132	0.0332	0.0089326	1381	154602	rs138883861	0.0048	0.0048	0.0040	0.0056	0.0541	0.0047	0.0047	0.0522	0.0514	0.0027	0.0024	0.0001	0.0541	0.0187	0.0030	0.0004	0.0072	0.0318	0.0051	0.0051	0.0036	0.0067	0.0434	0.0048	0.0047	0.0388	0.0370	0.0030	0	0.0014	0	0.0434	0.0166	0	0.0008	0.0043	0.0362	0.214	0.19361	T	0.225	0.25514	T	0.856	0.47190	P	0.388	0.44086	B	0.000140	0.49741	D	0.000000	0.734502	0.29796	N	0	0.06538	N	-0.01	0.62762	T	-2.1	0.47852	N	0.801	0.79696	-0.9988	0.30255	T	0.026	0.11220	T	10	0.009520739	0.00215	T	.	.	.	0.317	0.63904	.	.	0.814305628724	0.81256	0.8757017065038365	0.87537	0.347502600648	0.36640	0.473449975252	0.35155	T	0.241795	0.61040	T	-0.367462	0.03724	T	-0.244723	0.50336	T	0.0446611687074535	0.04540	T	0.692831	0.30243	T	0.22197078	0.44786	0.2519904	0.50820	0.22197078	0.44786	0.2519904	0.50819	-5.974	0.46062	T	.	.	0.253	0.48746	B	.	.	2.265371	0.28947	17.96	0.9759299570249157	0.34803	0.93170	0.57508	D	AEFDIJ	0.687624	0.64890	D	-0.000828758884280856	0.41818	2.508163	0.0516300828608658	0.42151	2.544544	0.957410023018017	0.28302	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.56	4.71	0.59010	7.072000	0.76466	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:0.8432:0.1568	13.582	0.61376	759	0.50631	Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004697	0.000000	0.000000	0.003623	0.000000	0.000000	0.012195	0.019084	0.05	3570.43	188	chr4	68476303	.	G	A	3570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.71;DP=517;ExcessHet=0;FS=8.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=-1.625;SOR=1.318	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	9	0	1	0
chr4	68568306	68568306	G	A	exonic	UGT2B17	.	nonsynonymous SNV	UGT2B17:NM_001077:exon2:c.C179T:p.A60V	.	624	894	3	1	0	5	0.00278862	.	.	.	2345001	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.00448069880285	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	7.12e-05	11	154602	rs771241716	5.755e-05	5.257e-05	4.587e-05	6.949e-05	0.0011	4.665e-05	4.287e-05	0.0004	0.0003	0	0	0	0	0	0.0011	4.624e-05	7.846e-05	0.0003	6.299e-05	6.071e-05	6.036e-05	6.585e-05	0.0003	3.104e-05	2.252e-05	1.332e-05	6.69e-06	2.692e-05	0	8.008e-05	0	0	0	0.0039	5.021e-05	0.0006	0.0003	0.134	0.26300	T	0.385	0.15746	T	.	.	.	.	.	.	0.104652	0.19693	U	0.394418	1	0.08975	N	1.96	0.53105	M	0.09	0.61443	T	-2.53	0.54864	D	0.078	0.05287	-0.9862	0.33542	T	0.096	0.36133	T	8	0.10189769	0.18645	T	0.004481	0.11000	T	0.126	0.34673	0.603	0.73466	0.345405024496	0.34151	0.07451659606578621	0.07387	0.250270989857	0.27603	0.31972938776	0.13379	T	0.052915	0.29296	T	-0.220454	0.17930	T	-0.554443	0.16902	T	0.0626359724674085	0.07577	T	0.29997	0.05606	T	0.06266443	0.13112	0.07537488	0.16589	0.06266443	0.13111	0.07537488	0.16588	-5.648	0.43228	T	.	.	0.229	0.46203	B	.	.	0.810102	0.11810	8.381	0.77545488100312676	0.11921	0.06733	0.12755	N	AEFI	0.093122	0.18845	N	-1.09052872889277	0.06816	0.3148882	-1.25986373344508	0.04986	0.2365643	1.84389770610933E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.66	-1.8	0.07480	1.114000	0.30811	.	.	0.540000	0.25189	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.4552:0.0:0.5448:0.0	7.561	0.27017	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001138	0.000000	0.000000	0.008000	0.000000	0.000000	0.000000	0.000000	0.08333	2859.55	35	chr4	68568306	.	G	A	2859.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.879;DP=746;ExcessHet=0;FS=2.13;MLEAC=1;MLEAF=0.083;MQ=59.98;MQRankSum=-1.036;QD=11.21;ReadPosRankSum=-0.366;SOR=0.556	GT:AD:DP:GQ:PL	./.:.:.:.:.	5	0	1	4
chr4	69727197	69727197	G	A	exonic	SULT1B1	.	nonsynonymous SNV	SULT1B1:NM_014465:exon8:c.C782T:p.T261M	.	449	1072	1	0	0	1	0.0004662	.	.	.	2822555	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.0214320027591	0.0042	0.00239617	0.0025	0.0093	0.0010	0.0001	0.0008	0.0028	0	0	0.0023415	362	154602	rs11569729	0.0018	0.0018	0.0019	0.0017	0.0081	0.0017	0.0017	0.0073	0.0070	0.0081	0.0007	3.898e-05	0	0.0018	0.0011	0.0019	0.0017	8.31e-05	0.0037	0.0037	0.0039	0.0034	0.0093	0.0034	0.0033	0.0085	0.0082	0.0093	0	0.0011	0	0	0.0009	0	0.0021	0.0024	0.0004	0.574	0.06106	T	0.316	0.19362	T	0.017	0.17573	B	0.011	0.15521	B	0.576383	0.11186	N	0.802103	1	0.08975	N	0.955	0.23872	L	-1.65	0.82625	D	0.34	0.03824	N	0.119	0.10911	-0.9480	0.41313	T	0.174	0.51753	T	10	0.004876703	0.00104	T	0.021432	0.44197	T	0.057	0.16321	.	.	0.423002944196	0.41917	0.3704365855843765	0.36957	0.0157081602099	0.01500	0.271120518446	0.06288	T	0.14151	0.47661	T	-0.478067	0.00759	T	-0.452947	0.27372	T	0.00109532071413289	0.00011	T	0.406259	0.10435	T	0.01732337	0.00264	0.026034718	0.00672	0.01732337	0.00263	0.026034718	0.00672	-3.445	0.15670	T	.	.	0.075	0.05711	B	.	.	-1.248734	0.00484	0.010	0.17540857581738156	0.00515	0.00301	0.01603	N	AEFBCI	0.019849	0.00727	N	-1.38422312189301	0.02786	0.12349	-1.3900384470195	0.03357	0.1564388	0.923383706899857	0.26741	0.730579	0.87903	0	0.573888	0.26702	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	5.25	-0.0667	0.13095	-0.321000	0.08060	.	.	-4.071000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5001:0.0:0.3738:0.1261	5.791	0.17623	946	0.12043	Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	581.43	38	chr4	69727197	.	G	A	581.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=356;ExcessHet=0;FS=1.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.479;SOR=1.179	GT:AD:DP:GQ:PL	0/0:26,0:26:66:0,66,990	9	0	1	0
chr4	70053100	70053100	A	C	exonic	HTN1	.	nonsynonymous SNV	HTN1:NM_001368990:exon2:c.A24C:p.L8F,HTN1:NM_002159:exon2:c.A24C:p.L8F	.	525	993	3	1	0	5	0.0025113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00137863768974	0.0017	0.00119808	0.0015	0.0007	0.0012	0	0	0.0017	0.0023	0.0027	0.0014489	224	154602	rs146406150	0.0019	0.0019	0.0018	0.0019	0.0023	0.0018	0.0018	0.0021	0.0020	0.0003	0.0009	0.0007	0	0.0003	0.0016	0.0021	0.0018	0.0023	0.0012	0.0012	0.0013	0.0012	0.0027	0.0011	0.0010	0.0017	0.0016	0.0004	0.0132	0.0005	0	0	0.0002	0	0.0020	0.0014	0.0027	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	0.69	0.51714	T	-2.46	0.53736	N	0.174	0.18649	-1.0344	0.19046	T	0.070	0.28544	T	8	0.005103171	0.00110	T	0.001379	0.02011	T	0.040	0.10527	0.243	0.17677	0.0611884634855	0.05136	0.005228407341580843	0.00493	0.00111161326673	0.00094	0.309178590775	0.11783	T	0.006744	0.06169	T	-0.57978	0.00193	T	-0.610828	0.11917	T	0.00715924131781739	0.00082	T	.	.	.	0.23434238	0.46253	0.19581021	0.43278	0.23434238	0.46253	0.19581021	0.43277	-4.323	0.28498	T	.	.	0.068	0.02927	B	.;.;.	.;.;.	-0.764697	0.01179	0.057	0.88004297366367401	0.17644	0.00283	0.01525	N	AEFI	0.020697	0.00843	N	-1.52082105526498	0.01713	0.07497391	-1.67736139498243	0.01241	0.05591126	1.38129624659821E-4	0.05486	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.93	-3.86	0.03951	-3.086000	0.00673	-8.272000	0.00998	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.3442:0.2762:0.1669:0.2127	0.373	0.00356	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1310.43	33	chr4	70053100	.	A	C	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.267;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.061;QD=9.5;ReadPosRankSum=-1.262;SOR=0.709	GT:AD:DP:GQ:PL	0/1:74,64:138:99:1322,0,1727	9	0	1	0
chr4	75936201	75936201	C	T	exonic	NAAA	.	nonsynonymous SNV	NAAA:NM_001042402:exon3:c.G406A:p.G136S,NAAA:NM_001363719:exon3:c.G406A:p.G136S,NAAA:NM_014435:exon3:c.G406A:p.G136S	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.0780031674049	0.0002	.	4.97e-05	0	0	0	0	5.995e-05	0	0.0001	4.53e-05	7	154602	rs369955132	3.215e-05	3.215e-05	2.587e-05	3.851e-05	0.0028	2.478e-05	2.221e-05	0.0017	0.0014	0	2.236e-05	0	0	0	0.0028	1.799e-05	4.968e-05	8.116e-05	2.632e-05	2.627e-05	2.572e-05	2.694e-05	0.0002	8.15e-06	5.15e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0.0002	0.008	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	3.515	0.92918	H	-1.27	0.79277	T	-5.73	0.87687	D	0.834	0.85238	0.465	0.90045	D	0.698	0.89598	D	10	0.9094987	0.90314	D	0.078003	0.72903	D	0.734	0.90721	.	.	0.88703323208	0.88592	0.9219949667970719	0.92175	0.920899058271	0.71449	0.529357671738	0.42943	T	0.596577	0.94919	D	0.273691	0.80768	D	0.358015	0.90627	D	0.929601550102234	0.59377	D	0.957004	0.83719	D	0.796939	0.83711	0.6975278	0.82186	0.796939	0.83712	0.6975278	0.82187	-9.853	0.73027	D	.	.	0.25	0.56818	B	.;.;.;.	.;.;.;.	4.728900	0.76146	26.5	0.99895363455259945	0.96819	0.93386	0.58078	D	AEFDBI	0.798235	0.72484	D	0.88027344470522	0.90761	10.553	0.822371633753617	0.91304	10.81942	0.999999996363744	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.592323	0.36904	0	.	.	5.9	5.9	0.94952	5.977000	0.70179	7.499000	0.59464	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:1.0:0.0:0.0	17.767	0.88390	871	0.31377	Choloylglycine hydrolase/NAAA C-terminal;.;Choloylglycine hydrolase/NAAA C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1296.43	34	chr4	75936201	.	C	T	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=447;ExcessHet=0;FS=3.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-2.428;SOR=1.083	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1156	9	0	1	0
chr4	75957683	75957683	A	G	exonic	SDAD1	.	nonsynonymous SNV	SDAD1:NM_001288983:exon18:c.T1493C:p.M498T,SDAD1:NM_001288984:exon19:c.T1313C:p.M438T,SDAD1:NM_018115:exon19:c.T1604C:p.M535T	.	435	1080	7	0	0	7	0.00323027	.	.	.	2822592	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0032	0.00279553	0.0053	0.0006	0.0004	0	0.0296	0.0061	0.0088	0.0012	0.0048706	753	154602	rs114534142	0.0051	0.0051	0.0050	0.0051	0.0050	0.0050	0.0049	0.0049	0.0048	0.0007	0.0007	0.0014	0	0.0261	0.0024	0.0050	0.0040	0.0013	0.0046	0.0046	0.0043	0.0049	0.0056	0.0043	0.0042	0.0051	0.0050	0.0006	0.0011	0.0009	0.0012	0	0.0250	0	0.0056	0.0009	0.0010	0.709	0.04148	T	0.594	0.08134	T	0.0	0.02946	B	0.002	0.06944	B	0.533790	0.11610	N	0.815477	1	0.08975	N	0.06	0.08197	N	2.05	0.20664	T	0.19	0.05503	N	0.055	0.06720	-0.9545	0.40185	T	0.015	0.05801	T	10	0.0017833412	0.00023	T	.	.	.	0.010	0.01040	.	.	0.101711395817	0.09552	0.1075196926481377	0.10680	0.0614379002088	0.06845	0.212230697274	0.00909	T	0.004499	0.03907	T	-0.64445	0.00078	T	-0.692935	0.06220	T	0.00304556858701323	0.00032	T	0.487551	0.14930	T	0.047017943	0.07968	0.06709048	0.13832	0.047017943	0.07968	0.06709048	0.13832	-2.807	0.08248	T	.	.	0.066	0.02257	B	.;.	.;.	0.845266	0.12171	8.719	0.47605109599516915	0.03905	0.09519	0.15257	N	AEFBI	0.070198	0.13925	N	-0.998821430156393	0.08630	0.405332	-0.917382945242897	0.11684	0.5967665	9.27303907318025E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.25	-0.151	0.12755	0.660000	0.24691	1.239000	0.25094	0.751000	0.87719	0.001000	0.13787	0.000000	0.08366	0.911000	0.44643	0.4486:0.0:0.5514:0.0	8.123	0.30140	802	0.44336	SDA1 domain;SDA1 domain	.	.	.	.	rs114534142	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1459.43	34	chr4	75957683	.	A	G	1459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.006;DP=617;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.138;SOR=0.629	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	9	0	1	0
chr4	76739350	76739350	G	C	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.G1177C:p.A393P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0632131570835	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200056000	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.076	0.42614	T	0.997	0.70673	D	0.932	0.66722	D	0.134878	0.18501	N	0.540287	0.94643	0.37527	D	2.36	0.67893	M	0.08	0.61559	T	-2.96	0.61722	D	0.541	0.56833	-0.2255	0.77006	T	0.356	0.71897	T	10	0.34037745	0.51107	T	0.063213	0.68897	D	0.288	0.60691	0.072	0.00442	0.497343540673	0.49367	0.34908827351521876	0.34822	1.07399651104	0.76911	0.450027406216	0.31947	T	0.568422	0.85670	D	-0.0314414	0.47208	T	-0.101412	0.63289	T	0.88046932220459	0.53048	D	0.889011	0.61998	D	0.3877715	0.59873	0.5016172	0.71188	0.3877715	0.59874	0.5016172	0.71189	-11.87	0.84212	D	.	.	0.482	0.63745	A	.;.	.;.	2.594927	0.33671	19.41	0.99690208298544458	0.79909	0.96609	0.70000	D	AEFDBCI	0.582537	0.58212	D	0.460901204770962	0.64823	4.745878	0.376617614976519	0.60125	4.196894	0.999999041519795	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	3.89	0.44098	2.925000	0.48580	2.578000	0.33400	0.676000	0.76740	0.980000	0.35271	0.810000	0.27029	0.646000	0.32584	0.1386:0.0:0.8614:0.0	12.274	0.54039	547	0.72440	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2559.14	111	chr4	76739350	.	G	C	2559.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.07;DP=1039;ExcessHet=0.2348;FS=6.307;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.35;SOR=1.069	GT:AD:DP:GQ:PL	0/1:77,54:131:99:1286,0,1841	8	0	2	0
chr4	76741208	76741208	C	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.C3035A:p.T1012N	.	416	1072	30	4	0	38	0.0174152	.	.	.	1195967	SHROOM3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.164	.	0.0053	0.00399361	0.0108	0.0029	0.0116	0	0.0073	0.0157	0.0091	0.0025	0.0058085	898	154602	rs147732653	0.0079	0.0079	0.0079	0.0078	0.0182	0.0078	0.0077	0.0154	0.0143	0.0022	0.0061	0.0106	2.538e-05	0.0035	0.0182	0.0089	0.0076	0.0027	0.0069	0.0069	0.0072	0.0065	0.0102	0.0065	0.0064	0.0096	0.0093	0.0019	0.0910	0.0062	0.0101	0	0.0029	0.0068	0.0102	0.0057	0.0031	0.001	0.78490	D	0.012	0.63918	D	0.984	0.60733	D	0.773	0.56974	P	0.041546	0.23937	N	0.340109	0.999994	0.08975	N	3.185	0.88900	M	0.34	0.58176	T	-3.84	0.72240	D	0.192	0.21056	-0.8547	0.51641	T	0.143	0.46404	T	10	0.0043590963	0.00089	T	.	.	.	0.164	0.42212	.	.	0.637225044583	0.63424	0.512869637631478	0.51208	0.411460119026	0.41898	0.801779985428	0.82234	T	0.488677	0.81421	T	-0.414511	0.01856	T	-0.358798	0.38191	T	0.0948631797115012	0.11782	T	0.668933	0.27951	T	0.53986067	0.69389	0.3622313	0.61632	0.53986067	0.69390	0.3622313	0.61632	-10.292	0.75642	D	.	.	0.202	0.42606	B	.;.	.;.	2.691383	0.35134	19.82	0.95082975117599788	0.26136	0.89839	0.50567	D	AEFDBI	0.232881	0.35589	N	0.056243779734306	0.44431	2.717215	-0.150118930678099	0.33403	1.910418	0.999976932169537	0.50053	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.74	0.952	0.18708	3.170000	0.50516	1.998000	0.30109	0.522000	0.23927	0.991000	0.37257	0.959000	0.29258	0.798000	0.37648	0.136:0.6392:0.0:0.2248	5.749	0.17404	583	0.69484	Apx/Shrm Domain 1|Apx/Shrm Domain 1;Apx/Shrm Domain 1|Apx/Shrm Domain 1	.	.	.	.	rs147732653	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015672	0.005102	0.014986	0.032353	0.000000	0.017544	0.006135	0.015152	0.05	1096.43	37	chr4	76741208	.	C	A	1096.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=436;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.204;SOR=0.754	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1242	9	0	1	0
chr4	76756857	76756857	T	G	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon8:c.T5118G:p.D1706E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00858800736981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.25055	T	0.107	0.37730	T	0.026	0.19406	B	0.038	0.23361	B	0.597309	0.10992	N	0.808125	1	0.08975	N	0.665	0.16292	N	1.57	0.29342	T	-2.97	0.61865	D	0.103	0.08646	-0.9976	0.30590	T	0.040	0.17277	T	10	0.40962633	0.56134	T	0.008588	0.22705	T	0.089	0.25827	0.801	0.92017	0.161926535498	0.15789	0.08480901213952492	0.08414	0.419819143065	0.42524	0.366120398045	0.20273	T	0.166248	0.51242	T	-0.336917	0.05605	T	-0.721734	0.04712	T	0.061262752515057	0.07366	T	0.59614	0.22137	T	0.09850861	0.23236	0.09293683	0.21926	0.09850861	0.23236	0.09293683	0.21926	-5.251	0.39456	T	.	.	0.148	0.42288	B	.;.	.;.	0.489918	0.08593	5.359	0.87805804609082994	0.17495	0.11961	0.16972	N	AEFBI	0.147540	0.27124	N	-1.35916137076895	0.03031	0.1347632	-1.4623777062443	0.02660	0.1227393	0.999999858597953	0.74766	0.67177	0.52595	0	0.624146	0.53433	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.34	-8.11	0.00953	-0.020000	0.12466	-2.873000	0.03274	-0.278000	0.06506	0.004000	0.16614	0.000000	0.08366	0.306000	0.24642	0.2327:0.5362:0.0909:0.1402	6.526	0.21499	744	0.52588	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1486.43	40	chr4	76756857	.	T	G	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=503;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.84;SOR=0.505	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1386	9	0	1	0
chr4	76770867	76770867	G	A	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon10:c.G5591A:p.G1864D	.	420	1080	20	2	0	24	0.010989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0123488510093	0.0005	0.000199681	0.0008	0	0.0003	0	0	0.0010	0.0055	0.0012	0.0007827	121	154602	rs145235341	0.0006	0.0006	0.0005	0.0007	0.0192	0.0006	0.0005	0.0163	0.0153	0.0004	0.0011	0.0001	0	0	0.0192	0.0005	0.0012	0.0008	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0	0.0010	0	0	0	0.0136	0.0007	0.0038	0.0006	0.019	0.50132	D	0.552	0.09361	T	0.989	0.62824	D	0.713	0.54588	P	0.015070	0.28350	N	0.374768	0.988469	0.40769	D	1.245	0.31408	L	1.6	0.28604	T	-2.53	0.54864	D	0.423	0.46274	-0.9910	0.32347	T	0.130	0.43948	T	10	0.05494377	0.05928	T	0.012349	0.30844	T	0.141	0.37795	.	.	0.179529687257	0.17594	0.20259952787936286	0.20176	1.18248504011	0.80057	0.590186476707	0.51520	T	0.049425	0.28304	T	-0.405799	0.02120	T	-0.406119	0.32674	T	0.0571807955546346	0.06718	T	0.651335	0.26216	T	0.19435224	0.41182	0.26907015	0.52782	0.19435224	0.41182	0.26907015	0.52781	-7.754	0.59382	D	.	.	0.273	0.50690	B	.;.	.;.	3.926849	0.57374	23.8	0.99760390558988343	0.85011	0.96876	0.71420	D	AEFDBI	0.744437	0.68743	D	0.493759808712527	0.66722	4.987329	0.477484532165668	0.66502	4.960259	0.99999999997178	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.53	5.53	0.82530	3.179000	0.50587	8.629000	0.77845	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.272000	0.23818	0.0:0.0:1.0:0.0	19.659	0.95852	784	0.47045	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.005051	0.016304	0.017544	0.000000	0.008621	0.006098	0.011364	0.05	977.43	33	chr4	76770867	.	G	A	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.581;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.31;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	9	0	1	0
chr4	76778813	76778813	C	G	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon11:c.C5627G:p.S1876C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0319539014024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	2.726e-06	1.377e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.981e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000125	0.49741	D	0.087556	0.999771	0.48980	D	2.375	0.68372	M	1.39	0.33842	T	-4.06	0.74582	D	0.4	0.44090	-0.6620	0.62188	T	0.229	0.59447	T	10	0.59825563	0.66765	D	0.031954	0.53910	D	0.273	0.58883	0.578	0.70347	0.289027227714	0.28505	0.3124690685352161	0.31159	1.02529329724	0.75255	0.562951624393	0.47684	T	0.29403	0.66672	T	-0.0405544	0.45866	T	-0.29603	0.45141	T	0.994166374206543	0.85300	D	0.920008	0.71084	D	0.48425344	0.66157	0.3684818	0.62137	0.48425344	0.66158	0.3684818	0.62137	-8.359	0.63491	D	.	.	0.114	0.24934	B	.;.	.;.	3.834066	0.55435	23.6	0.99139464395587895	0.53491	0.98914	0.88555	D	AEFBI	0.731266	0.67840	D	0.547794251636959	0.69948	5.430169	0.483533915266744	0.66900	5.012524	0.999999997574727	0.74766	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	4.557000	0.60491	3.991000	0.40989	0.549000	0.26987	0.868000	0.30757	0.999000	0.35428	0.482000	0.28611	0.0:1.0:0.0:0.0	18.710	0.91617	769	0.49307	Apx/Shrm Domain 2|Apx/Shrm Domain 2;Apx/Shrm Domain 2|Apx/Shrm Domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1444.43	33	chr4	76778813	.	C	G	1444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.236;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.369;SOR=0.722	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	9	0	1	0
chr4	76897476	76897478	CGC	-	exonic	SOWAHB	.	nonframeshift deletion	SOWAHB:NM_001029870:exon1:c.372_374del:p.R125del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118	.	0.0008	0.0048	0	0	0	0.0005	0	0.0008	3.84e-05	1	26028	rs750236754	5.245e-05	0.0004	4.285e-05	6.232e-05	0.0005	4.227e-05	3.877e-05	0.0003	0.0002	0	0.0005	0	3.403e-05	5.534e-05	0.0002	3.309e-05	7.222e-05	0.0002	0	6.569e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	117.39	26	chr4	76897475	.	GCGC	G	117.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.726;DP=269;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.852;SOR=0.368	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,810	9	0	1	0
chr4	78540945	78540945	G	T	exonic	FRAS1	.	nonsynonymous SNV	FRAS1:NM_025074:exon74:c.G11860T:p.V3954L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00231067217021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.17115	T	.	.	.	.	.	.	0.032015	0.25089	N	0.386077	0.999837	0.20152	N	.	.	.	.	.	.	.	.	.	0.034	0.00942	-1.0475	0.15102	T	0.068	0.27777	T	10	0.05793938	0.06735	T	0.002311	0.04452	T	.	.	.	.	0.449187354989	0.44539	0.10054975897522352	0.09985	.	.	0.287178635597	0.08513	T	.	.	.	-0.12097	0.32965	T	-0.411542	0.32048	T	0.0630679974767446	0.07643	T	0.70513	0.31558	T	.	.	.	.	.	.	.	.	-3.023	0.10431	T	.	.	0.075	0.05711	B	.	.	0.121797	0.05193	1.705	0.87956485826681352	0.17608	0.81039	0.40529	D	AEFBI	0.256187	0.37517	N	-0.626705428475027	0.18145	0.9397049	-0.524398339435553	0.21492	1.162856	0.994976289754749	0.33890	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.08	2.0	0.25495	2.237000	0.42709	-0.462000	0.09033	0.618000	0.50648	0.994000	0.38300	0.000000	0.08366	0.022000	0.11911	0.2723:0.1115:0.6162:0.0	8.815	0.34148	864	0.32732	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1437.43	92	chr4	78540945	.	G	T	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=497;ExcessHet=0;FS=5.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.712;SOR=0.866	GT:AD:DP:GQ:PL	0/0:40,0:40:78:0,78,1203	9	0	1	0
chr4	78887246	78887246	A	G	exonic	BMP2K	.	nonsynonymous SNV	BMP2K:NM_198892:exon15:c.A2024G:p.E675G	.	429	1077	15	1	0	17	0.00783049	.	.	.	2367501	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0245590713657	0.0007	0.000199681	0.0012	0	0.0002	0	0	0.0018	0.0029	0.0017	0.0008538	132	154602	rs200263125	0.0006	0.0006	0.0005	0.0007	0.0068	0.0006	0.0006	0.0051	0.0045	2.99e-05	0.0009	0.0023	2.527e-05	0	0.0068	0.0005	0.0012	0.0013	0.0008	0.0008	0.0007	0.0010	0.0033	0.0007	0.0007	0.0026	0.0023	7.217e-05	0	0.0033	0.0023	0	0	0	0.0008	0.0014	0.0015	0.024	0.47745	D	0.125	0.35330	T	0.998	0.73220	D	0.82	0.59072	P	0.002806	0.35900	N	0.235974	0.999898	0.81001	D	1.1	0.28011	L	2.26	0.17596	T	-2.54	0.55025	D	0.363	0.40465	-1.1317	0.01703	T	0.072	0.29323	T	10	0.021440357	0.00513	T	0.024559	0.47547	T	0.205	0.49236	.	.	0.301789629655	0.29801	0.22425452088601844	0.22340	0.0933479579245	0.10547	0.49670124054	0.38368	T	0.092704	0.39060	T	-0.406056	0.02112	T	-0.396581	0.33782	T	0.0695041567087173	0.08581	T	0.632437	0.24680	T	0.19723512	0.41580	0.28775573	0.54789	0.19723512	0.41580	0.28775573	0.54788	-7.551	0.57968	D	.	.	0.161	0.35519	B	.	.	3.805334	0.54855	23.5	0.99666813080586869	0.78330	0.98762	0.86525	D	AEFBI	0.612027	0.60026	D	0.533700047762684	0.69097	5.308727	0.572181772952192	0.72952	5.891761	0.999999958919782	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	6.162000	0.71691	8.070000	0.76436	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.144	0.81367	551	0.72115	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.008152	0.002924	0.000000	0.000000	0.009146	0.011364	0.1	2435.14	33	chr4	78887246	.	A	G	2435.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.325;DP=502;ExcessHet=0.2348;FS=0.491;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.65;SOR=0.629	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1391,0,1161	8	0	2	0
chr4	79406790	79406790	C	T	exonic	GK2	.	nonsynonymous SNV	GK2:NM_033214:exon1:c.G1411A:p.V471I	.	0	1514	7	1	0	9	0.00296345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0111800432736	0.0002	0.000599042	0.0007	0.0004	8.637e-05	0	0	0.0002	0.0011	0.0039	0.0005757	89	154602	rs148945495	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0034	0.0032	0.0003	4.472e-05	0	0	0	0.0007	8.993e-05	0.0003	0.0037	0.0003	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0.0004	0	0	0	0	0	0	5.88e-05	0	0.0039	0.28	0.15509	T	0.263	0.22828	T	0.356	0.33761	B	0.056	0.26147	B	0.000122	0.49741	N	0.131366	0.981534	0.39788	D	2.325	0.66631	M	-2.55	0.89561	D	-0.45	0.14782	N	0.126	0.11912	-0.3171	0.74503	T	0.453	0.78621	T	10	0.015090972	0.00317	T	0.01118	0.28538	T	0.192	0.47115	.	.	0.69393619111	0.69130	0.3800303419956537	0.37918	0.0691553235387	0.07740	0.239516526461	0.02747	T	0.012715	0.11127	T	-0.457909	0.01013	T	-0.432321	0.29673	T	0.0162569067300891	0.00398	T	0.779722	0.41422	T	0.021082154	0.00693	0.029945577	0.01390	0.021082154	0.00693	0.029945577	0.01389	-4.716	0.33598	T	.	.	0.084	0.09868	B	.	.	-0.120041	0.03524	0.670	0.77655687963149789	0.11967	0.39335	0.26190	N	AEFBI	0.069374	0.13729	N	-0.807049122430082	0.13129	0.644668	-0.846823447416531	0.13364	0.6928639	0.483044211727096	0.20801	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.11	2.4	0.28568	0.848000	0.27362	-0.093000	0.12034	-1.961000	0.00476	0.220000	0.24536	0.000000	0.08366	0.001000	0.02609	0.0:0.8095:0.0:0.1905	8.754	0.33797	426	0.81110	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1070.43	35	chr4	79406790	.	C	T	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.825;DP=421;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.75;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1184	9	0	1	0
chr4	80202025	80202025	G	A	exonic	PRDM8	.	nonsynonymous SNV	PRDM8:NM_001099403:exon4:c.G563A:p.S188N,PRDM8:NM_020226:exon10:c.G563A:p.S188N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0219563630301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.14017	T	0.339	0.31225	T	0.002	0.09854	B	0.003	0.08700	B	0.009462	0.30346	N	0.310791	0.994056	0.23596	N	0.55	0.14455	N	-0.13	0.64818	T	-0.61	0.21215	N	0.032	0.01135	-1.0400	0.17313	T	0.106	0.38685	T	10	0.09371489	0.16605	T	0.021956	0.44796	T	0.059	0.16972	0.268	0.21576	0.540243489925	0.53678	0.1834780333960255	0.18266	.	.	0.487673968077	0.37117	T	0.015349	0.12895	T	-0.145333	0.29045	T	-0.446537	0.28079	T	0.106784842908382	0.13087	T	0.549745	0.18930	T	0.040214397	0.05699	0.09220452	0.21717	0.040214397	0.05699	0.09220452	0.21717	-10.125	0.74657	D	0.19038339666474186	0.24939	0.106	0.19839	B	.;.;.;.	.;.;.;.	1.610437	0.20578	14.81	0.77640063751273458	0.11960	0.81937	0.41245	D	ALL	0.201723	0.32836	N	-0.761277221412938	0.14329	0.7128669	-0.656843935543807	0.18044	0.9621999	0.999999999985045	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	4.99	4.13	0.47661	2.395000	0.44113	2.756000	0.34570	0.614000	0.49286	0.359000	0.25834	0.999000	0.35428	0.175000	0.21139	0.1756:0.0:0.8244:0.0	8.821	0.34186	723	0.55174	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1888.43	41	chr4	80202025	.	G	A	1888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.598;DP=576;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.917;SOR=1.097	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1388	9	0	1	0
chr4	82426558	82426558	C	G	exonic	HNRNPDL	.	nonsynonymous SNV	HNRNPDL:NM_031372:exon6:c.G1097C:p.G366A	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	438	1083	1	0	0	1	0.000461467	.	.	.	691625	Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.304	0.0509305838735	.	0.000199681	0.0004	0	0	0.0037	0	1.499e-05	0	0.0013	0.0003752	58	154602	rs200123403	0.0002	0.0002	0.0001	0.0002	0.0035	0.0002	0.0002	0.0030	0.0028	0	0	0	0.0035	1.877e-05	0	9.9e-06	0.0002	0.0011	0.0001	0.0001	3.855e-05	0.0002	0.0025	7.573e-05	6.278e-05	0.0015	0.0012	0	0	0	0	0.0025	0	0	0	0	0.0010	0.08	0.33585	T	0.016	0.60972	D	0.093	0.25333	B	0.012	0.16012	B	0.000012	0.62929	D	0.111132	0.821797	0.81001	D	1.48	0.37141	L	-2.29	0.87591	D	-1.67	0.39887	N	0.457	0.49420	-0.3093	0.74725	T	0.473	0.79779	T	10	0.013842881	0.00292	T	0.050931	0.64450	D	0.304	0.62510	.	.	0.794866231817	0.79295	0.782699162966229	0.78220	0.958394088486	0.72909	0.637438774109	0.58200	T	0.123599	0.44808	T	-0.292344	0.09402	T	-0.195129	0.55108	T	0.038196925423996	0.03366	T	0.787321	0.42620	T	0.19485313	0.41251	0.1964123	0.43370	0.19485313	0.41251	0.1964123	0.43369	-6.671	0.51592	T	.	.	0.150	0.33110	B	.;.;.;.;.	.;.;.;.;.	3.825547	0.55270	23.6	0.97479853157685437	0.34183	0.90454	0.51643	D	AEFBCI	0.607451	0.59741	D	0.0663192455911651	0.44897	2.755468	0.271067350157503	0.53856	3.552716	0.999999999836489	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.74	5.74	0.90070	4.565000	0.60552	5.969000	0.51963	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8641:0.1359:0.0	15.731	0.77571	907	0.22727	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	640.43	34	chr4	82426558	.	C	G	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.622;DP=384;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.808;SOR=0.679	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1205	9	0	1	0
chr4	82429582	82429590	GCCGCGGCG	-	exonic	HNRNPDL	.	nonframeshift deletion	HNRNPDL:NM_001207000:exon1:c.101_109del:p.P34_R36del,HNRNPDL:NM_031372:exon1:c.101_109del:p.P34_R36del	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	420	1099	3	0	0	3	0.00136302	.	.	.	562278	Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0033	.	0.0004	0.0019	0	0	0	0	0	0	3.84e-05	1	26028	rs759911561	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0	0.0001	2.544e-05	0.0003	0.0003	0.0003	5.498e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0003	0	0	0	0	0	0	0.0003	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1125.11	20	chr4	82429581	.	TGCCGCGGCG	T	1125.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.669;DP=194;ExcessHet=0.2348;FS=5.562;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.61;ReadPosRankSum=1.44;SOR=0.442	GT:AD:DP:GQ:PL	0/1:8,18:26:99:732,0,271	8	0	2	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	56.6	47	chr4	82485718	.	G	C	56.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.194;DP=377;ExcessHet=2.8389;FS=96.99;InbreedingCoeff=-0.2826;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.092;SOR=7.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,4:30:41:.:.:0,41,515:.	5	0	5	0
chr4	83322350	83322350	C	T	exonic	HPSE	.	nonsynonymous SNV	HPSE:NM_001098540:exon2:c.G242A:p.R81H,HPSE:NM_001199830:exon2:c.G242A:p.R81H,HPSE:NM_001166498:exon3:c.G242A:p.R81H,HPSE:NM_006665:exon3:c.G242A:p.R81H	.	.	.	.	.	.	.	.	.	.	.	2332413	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.00586626494846	.	.	3.363e-05	0	0	0	0	6.13e-05	0	0	2.59e-05	4	154602	rs781393849	2.33e-05	2.326e-05	2.591e-05	2.066e-05	0.0005	1.677e-05	1.48e-05	0.0001	7.557e-05	0	0	0	2.522e-05	0	0.0005	2.34e-05	1.659e-05	3.502e-05	3.942e-05	3.937e-05	6.427e-05	1.344e-05	6.545e-05	1.715e-05	1.129e-05	1.972e-05	1.125e-05	0	0	6.545e-05	0	0	0	0.0034	5.881e-05	0	0	0.575	0.36310	T	0.542	0.20944	T	0.841	0.46518	P	0.15	0.34161	B	0.000017	0.62929	D	0.108156	0.999573	0.50061	D	2.325	0.66631	M	1.51	0.30937	T	-1.99	0.46842	N	0.447	0.48504	-1.0344	0.19046	T	0.146	0.47038	T	10	0.23784736	0.40893	T	0.005866	0.15251	T	0.195	0.47612	.	.	0.29385284311	0.29004	0.7299972075096315	0.72944	0.143957075891	0.16256	0.658267557621	0.61162	T	0.462359	0.79875	T	0.00360027	0.52151	T	-0.0634767	0.66089	T	0.381172388792038	0.28227	T	0.886911	0.62461	D	0.3282794	0.55329	0.14449091	0.34303	0.3282794	0.55329	0.14449091	0.34303	-9.424	0.74145	D	.	.	0.167	0.47955	B	.;.;.;.	.;.;.;.	3.800441	0.54757	23.5	0.99925762907645499	0.99042	0.87594	0.47185	D	AEFGBI	0.432665	0.49445	N	0.339769963859747	0.58202	3.991105	0.405176377397033	0.61885	4.39524	0.999999998800366	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.695668	0.68540	0	.	.	5.34	5.34	0.75982	2.228000	0.42625	0.987000	0.23166	0.597000	0.34315	0.936000	0.32490	0.440000	0.24899	0.993000	0.69303	0.1504:0.8496:0.0:0.0	14.095	0.64540	783	0.47268	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1013.43	35	chr4	83322350	.	C	T	1013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.344;DP=382;ExcessHet=0;FS=2.188;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.76;SOR=0.418	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1143	9	0	1	0
chr4	83407530	83407530	G	T	exonic	HELQ	.	nonsynonymous SNV	HELQ:NM_001297755:exon17:c.C3028A:p.Q1010K,HELQ:NM_001297757:exon17:c.C1597A:p.Q533K,HELQ:NM_001297756:exon18:c.C1738A:p.Q580K,HELQ:NM_133636:exon18:c.C3229A:p.Q1077K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.0400541101276	.	0.00179712	0.0005	0	0	0	0	0	0	0.0036	0.0004398	68	154602	rs533353933	0.0002	0.0002	9.135e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	7.709e-05	0.0002	0.0050	0.0001	9.235e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.22	0.27544	T	0.578	0.08565	T	0.376	0.45919	B	0.055	0.42432	B	0.000001	0.84330	D	0.055699	0.999918	0.53665	D	2.125	0.59049	M	0.3	0.62459	T	-1.69	0.41046	N	0.302	0.42834	-0.7761	0.56520	T	0.214	0.57573	T	10	0.00757882	0.00172	T	0.040054	0.59162	D	0.234	0.53644	0.334	0.32167	0.79015365589	0.78820	0.512810849085354	0.51203	0.20162608318	0.22570	0.418745875359	0.27665	T	0.002409	0.17967	T	-0.322717	0.06678	T	-0.238759	0.50920	T	0.181958470479372	0.19358	T	0.824218	0.48580	T	0.34922653	0.57007	0.2405819	0.49435	0.34922653	0.57007	0.2405819	0.49434	-8.291	0.63035	D	.	.	0.093	0.13923	B	.;.	.;.	3.408923	0.47274	22.4	0.96934084764247053	0.31668	0.96524	0.69570	D	AEFBI	0.731080	0.67827	D	0.171820404454982	0.49849	3.180869	0.252895929262108	0.52813	3.45376	0.999916169803954	0.45857	0.693126	0.56070	0	0.659464	0.62310	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.03	5.03	0.67015	7.008000	0.76089	8.355000	0.77019	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.311000	0.24761	0.0:0.0:1.0:0.0	18.330	0.90206	823	0.40596	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	583.43	34	chr4	83407530	.	G	T	583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.342;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-1.193;SOR=0.6	GT:AD:DP:GQ:PL	0/1:23,26:49:99:595,0,567	9	0	1	0
chr4	83463512	83463512	C	T	exonic	ABRAXAS1	.	nonsynonymous SNV	ABRAXAS1:NM_001345962:exon7:c.G451A:p.A151T,ABRAXAS1:NM_139076:exon8:c.G778A:p.A260T	.	.	.	.	.	.	.	.	.	.	.	1857219	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0212842845062	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200727513	1.377e-06	3.421e-06	2.742e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.11514	T	0.505	0.13066	T	0.264	0.31602	B	0.09	0.29851	B	0.206193	0.16477	N	0.554792	1	0.08975	N	.	.	.	0.87	0.46412	T	-0.57	0.17210	N	0.162	0.17002	-1.0296	0.20583	T	0.091	0.34955	T	10	0.13651595	0.25974	T	0.021284	0.44035	T	0.048	0.13305	.	.	0.367992661779	0.36405	0.14821388443617792	0.14743	0.120333944722	0.13553	0.30477720499	0.11117	T	0.002012	0.01422	T	-0.323888	0.06584	T	-0.703019	0.05662	T	0.0693262762824745	0.08556	T	0.567243	0.20104	T	0.023787994	0.01150	0.042738777	0.05158	0.023787994	0.01150	0.042738777	0.05158	-4.604	0.32222	T	0.14203361391289301	0.16029	0.073	0.05231	B	.;.	.;.	1.403844	0.18184	13.59	0.86762360654592252	0.16756	0.69069	0.34043	D	AEFBI	0.099327	0.19996	N	-0.39787935461366	0.25544	1.38743	-0.340583840991836	0.26801	1.482808	0.0083281100655636	0.11654	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.69	3.03	0.34070	0.410000	0.20819	2.618000	0.33617	-0.193000	0.09282	0.562000	0.27441	1.000000	0.68203	0.004000	0.06068	0.0:0.6335:0.1411:0.2253	6.646	0.22126	898	0.25240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	36.75	82	chr4	83463512	.	C	T	36.75	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.292;DP=313;ExcessHet=0;FS=88.935;InbreedingCoeff=-0.072;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.51;SOR=6.438	GT:AD:DP:GQ:PL	0/0:18,0:18:40:0,40,395	9	0	1	0
chr4	84635283	84635283	A	T	exonic	CDS1	.	nonsynonymous SNV	CDS1:NM_001263:exon8:c.A742T:p.S248C	.	459	1062	1	0	0	1	0.000470588	.	.	.	3648769	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.00622328498275	.	0.000199681	3.321e-05	0	0	0	0	4.526e-05	0	6.072e-05	3.23e-05	5	154602	rs547078642	2.264e-05	2.738e-05	2.398e-05	2.13e-05	0.0007	1.638e-05	1.402e-05	0.0002	0.0001	3.204e-05	2.602e-05	0	0	0	0.0007	2.212e-05	3.412e-05	0	1.987e-05	3.29e-05	0	4.072e-05	6.588e-05	5.28e-06	2.47e-06	4.89e-06	1.83e-06	0	0	6.588e-05	0	0	0	0	2.949e-05	0	0	0.246	0.17353	T	0.247	0.23914	T	0.001	0.07471	B	0.006	0.12133	B	0.000007	0.62929	D	0.173592	0.893068	0.35996	D	-0.805	0.01590	N	0.97	0.42502	T	0.71	0.02130	N	0.377	0.41853	-1.0415	0.16860	T	0.045	0.19275	T	10	0.12900963	0.24544	T	0.006223	0.16317	T	0.099	0.28413	.	.	0.445410361449	0.44164	0.7470777382882654	0.74653	0.258046350678	0.28359	0.755693137646	0.75289	T	0.01695	0.13915	T	-0.219031	0.18123	T	-0.437445	0.29094	T	0.147973150014877	0.16941	T	0.842116	0.51841	T	0.18695782	0.40129	0.1378886	0.32946	0.18695782	0.40128	0.1378886	0.32945	-1.066	0.01075	T	.	.	0.071	0.03811	B	.	.	2.444475	0.31468	18.75	0.88091909445701955	0.17710	0.88758	0.48840	D	AEFBHCI	0.450602	0.50493	N	-0.264350395320764	0.30534	1.70349	0.0228895929767658	0.40781	2.439252	0.999999178095996	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.65	5.65	0.86881	5.263000	0.65324	11.195000	0.88811	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.856	0.78759	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.000000	0.05	601.43	35	chr4	84635283	.	A	T	601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.086;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.284;SOR=0.585	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1414	9	0	1	0
chr4	86753030	86753030	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080683:exon20:c.G3188A:p.G1063E,PTPN13:NM_080685:exon20:c.G3188A:p.G1063E	.	4	1450	65	3	0	71	0.0238977	.	.	.	709495	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.075	.	0.0051	0.00599042	0.0072	0.0016	0.0023	0.0001	0.0014	0.0058	0.0046	0.0257	0.0067593	1045	154602	rs61757792	0.0076	0.0077	0.0070	0.0081	0.0249	0.0074	0.0074	0.0240	0.0237	0.0012	0.0022	0.0079	7.603e-05	0.0018	0.0101	0.0071	0.0075	0.0249	0.0048	0.0049	0.0046	0.0050	0.0264	0.0045	0.0044	0.0226	0.0212	0.0014	0	0.0044	0.0069	0	0.0014	0	0.0064	0.0052	0.0264	0.072	0.34982	T	0.015	0.61642	D	0.897	0.49385	P	0.624	0.51529	P	0.001153	0.40056	U	0.000000	0.97235	0.81001	D	1.935	0.51832	L	0.75	0.51228	T	-2.13	0.48354	N	0.375	0.41952	-0.9357	0.43288	T	0.118	0.41451	T	10	0.007902771	0.00179	T	.	.	.	0.075	0.21907	.	.	0.631643887469	0.62863	0.36882168391493325	0.36796	0.0557682884687	0.06166	0.54100227356	0.44587	T	0.089488	0.38383	T	-0.472092	0.00825	T	-0.433318	0.29558	T	0.0327344485482899	0.02427	T	0.778122	0.41194	T	0.12600833	0.29525	0.18099791	0.40935	0.12600833	0.29525	0.18099791	0.40935	-3.895	0.22227	T	.	.	0.150	0.39477	B	.;.;.	.;.;.	4.097530	0.61070	24.3	0.86576947811205285	0.16629	0.82451	0.41677	D	AEFGBI	0.211529	0.33731	N	0.0797420084746258	0.45518	2.807024	0.0835819587956253	0.43722	2.66822	0.00666001195444328	0.11274	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	4.96	4.12	0.47504	3.392000	0.52279	11.824000	0.97325	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.1714:0.0:0.8286:0.0	9.523	0.38314	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.009511	0.000000	0.000000	0.017241	0.012195	0.022727	0.05	1788.43	35	chr4	86753030	.	G	A	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.356;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1268	9	0	1	0
chr4	86762736	86762736	C	T	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon21:c.C2990T:p.T997I,PTPN13:NM_006264:exon23:c.C3506T:p.T1169I,PTPN13:NM_080683:exon24:c.C3563T:p.T1188I,PTPN13:NM_080685:exon24:c.C3563T:p.T1188I	.	2	1518	2	0	0	2	0.000658328	.	.	.	4008113	PTPN13-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0401100475391	0.0012	0.000399361	0.0015	0.0005	0.0002	0	0.0002	0.0022	0.0023	0.0014	0.0015653	242	154602	rs186651045	0.0023	0.0023	0.0024	0.0022	0.0029	0.0022	0.0022	0.0028	0.0027	0.0002	0.0003	3.866e-05	0	0.0002	0.0005	0.0029	0.0015	0.0007	0.0012	0.0012	0.0013	0.0011	0.0022	0.0011	0.0010	0.0019	0.0018	0.0005	0.0022	0.0004	0	0	0	0	0.0022	0.0019	0.0004	0.01	0.59928	D	0.046	0.56192	D	0.82	0.77913	P	0.195	0.82059	B	0.002865	0.35804	N	0.124956	0.937571	0.27028	N	2.19	0.61577	M	0.57	0.54347	T	-1.76	0.45949	N	0.132	0.22098	-0.8047	0.54867	T	0.206	0.56417	T	10	0.010615259	0.00236	T	0.04011	0.59190	D	0.064	0.18567	.	.	0.721383868242	0.71892	0.22129676433295464	0.22045	0.0637969857474	0.07108	0.350435614586	0.17985	T	0.08686	0.37816	T	-0.448569	0.01152	T	-0.414781	0.31675	T	0.015412016293212	0.00345	T	0.884811	0.61924	D	0.11523414	0.27195	0.11731227	0.28320	0.11523414	0.27194	0.11731227	0.28320	-3.972	0.25730	T	.	.	0.128	0.28578	B	.;.;.;.;.	.;.;.;.;.	3.603129	0.50905	23.0	0.99859026863442002	0.93729	0.93949	0.59660	D	AEFGBHI	0.256523	0.37543	N	0.325381156441538	0.57454	3.912841	0.381508301421835	0.60424	4.22997	0.571248895938856	0.21494	0.736574	0.97449	0	0.546412	0.12157	0	0.732669	0.93749	0	0.567892	0.33627	0	.	.	5.47	5.47	0.80345	1.729000	0.37737	5.951000	0.51650	0.599000	0.40250	0.977000	0.34929	1.000000	0.68203	0.991000	0.66497	0.1261:0.6809:0.193:0.0	11.292	0.48494	855	0.34697	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1124.43	36	chr4	86762736	.	C	T	1124.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.578;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.487;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	9	0	1	0
chr4	86762995	86762995	G	T	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon21:c.G3249T:p.W1083C,PTPN13:NM_006264:exon23:c.G3765T:p.W1255C,PTPN13:NM_080683:exon24:c.G3822T:p.W1274C,PTPN13:NM_080685:exon24:c.G3822T:p.W1274C	.	0	1512	9	1	0	11	0.00362438	.	.	.	1037521	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.120	0.0194470382253	0.0031	0.00139776	0.0038	0.0008	0.0021	0.0002	0.0058	0.0050	0.0022	0.0035	0.0036416	563	154602	rs201633051	0.0046	0.0046	0.0045	0.0046	0.0051	0.0045	0.0044	0.0050	0.0049	0.0006	0.0027	0.0006	0	0.0056	0.0038	0.0051	0.0037	0.0037	0.0037	0.0037	0.0039	0.0035	0.0055	0.0034	0.0033	0.0051	0.0049	0.0010	0	0.0024	0.0006	0	0.0070	0.0102	0.0055	0.0033	0.0037	0.02	0.49613	D	0.093	0.39799	T	0.966	0.64738	D	0.717	0.54822	P	0.057491	0.22477	N	0.325863	0.999781	0.49076	D	2.2	0.62015	M	0.73	0.50721	T	-1.94	0.49684	N	0.473	0.51048	-0.8848	0.49373	T	0.180	0.52705	T	10	0.010404646	0.00232	T	0.019447	0.41815	T	0.120	0.33359	0.199	0.11247	0.718839793265	0.71636	0.2960224735570662	0.29515	0.0546384430823	0.06044	0.378156244755	0.21993	T	0.081482	0.36608	T	-0.369855	0.03601	T	-0.301574	0.44560	T	0.0164710960281549	0.00412	T	0.931507	0.74506	D	0.21074873	0.43380	0.20590806	0.44781	0.21074873	0.43380	0.20590806	0.44780	-3.858	0.25966	T	.	.	0.357	0.59126	A	.;.;.;.;.	.;.;.;.;.	4.554744	0.71721	25.7	0.98515566237893126	0.42398	0.90404	0.51553	D	AEFBI	0.501295	0.53419	D	0.508590542387105	0.67595	5.102804	0.531277398498122	0.70105	5.456587	0.519911948366889	0.21088	0.634777	0.41761	0	0.546412	0.12157	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	3.823000	0.55415	9.621000	0.81106	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.848:0.152	13.932	0.63510	854	0.34840	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1206.43	45	chr4	86762995	.	G	T	1206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.127;DP=465;ExcessHet=0;FS=2.558;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.21;SOR=0.454	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr4	86771306	86771306	T	C	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon28:c.T4366C:p.S1456P,PTPN13:NM_006264:exon30:c.T4882C:p.S1628P,PTPN13:NM_080683:exon31:c.T4939C:p.S1647P,PTPN13:NM_080685:exon31:c.T4954C:p.S1652P	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0448557247322	.	.	4.527e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs753076514	1.38e-05	1.436e-05	1.37e-05	1.39e-05	0.0009	9.01e-06	7.32e-06	0.0003	0.0002	0	0	0	0	0	0.0009	4.52e-06	4.996e-05	8.361e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.038	0.51737	D	0.959	0.55135	D	0.636	0.51948	P	0.004913	0.33273	N	0.137959	0.844337	0.35118	D	2.36	0.67893	M	0.54	0.54911	T	-1.72	0.40850	N	0.119	0.15609	-0.7978	0.55274	T	0.172	0.51421	T	10	0.13131833	0.24993	T	0.044856	0.61695	D	0.043	0.11576	0.27	0.21893	0.627538367207	0.62450	0.41166350984062977	0.41082	0.202852445016	0.22704	0.293672204018	0.09461	T	0.122312	0.44590	T	-0.375924	0.03304	T	-0.487622	0.23639	T	0.159702778582098	0.17850	T	0.910509	0.69569	D	0.18274127	0.39508	0.3161105	0.57594	0.18274127	0.39508	0.3161105	0.57593	-3.276	0.15327	T	.	.	0.122	0.33642	B	.;.;.;.;.	.;.;.;.;.	2.798089	0.36800	20.3	0.99859340928503504	0.93820	0.90661	0.52023	D	AEFBI	0.414199	0.48356	N	0.0310790456755908	0.43272	2.623486	0.050478747523644	0.42096	2.540208	0.00956661013010071	0.11876	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.32	2.84	0.32241	1.531000	0.35624	1.536000	0.27193	0.665000	0.62972	0.938000	0.32564	0.975000	0.29991	0.994000	0.71098	0.0:0.0716:0.1393:0.7891	7.846	0.28586	863	0.32847	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1817.43	35	chr4	86771306	.	T	C	1817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=484;ExcessHet=0;FS=2.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-3.212;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr4	87047013	87047013	C	A	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313959:exon3:c.C457A:p.P153T,AFF1:NM_005935:exon3:c.C457A:p.P153T,AFF1:NM_001166693:exon4:c.C478A:p.P160T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0300723701741	0.0017	0.000798722	0.0004	0.0049	0.0003	0	0	0	0	0	0.0003752	58	154602	rs61734711	0.0001	0.0001	0.0001	9.488e-05	0.0038	9.4e-05	8.883e-05	0.0033	0.0031	0.0038	0.0002	0	0	0	0	1.799e-06	0.0003	0	0.0013	0.0013	0.0013	0.0012	0.0044	0.0011	0.0011	0.0039	0.0037	0.0044	0	0.0006	0	0	0	0	1.47e-05	0	0	0.16	0.23721	T	0.601	0.08715	T	0.08	0.24543	B	0.062	0.26930	B	0.846732	0.07032	U	1.117560	1	0.08975	N	1.415	0.35607	L	-0.08	0.63911	T	-2.46	0.53736	N	0.233	0.26354	-0.8669	0.50761	T	0.223	0.58742	T	10	0.00528419	0.00115	T	0.030072	0.52455	D	0.047	0.12962	.	.	0.484329738948	0.48065	0.25401190858467837	0.25315	0.275121432824	0.29997	0.21106608212	0.00857	T	0.050487	0.47905	T	-0.473289	0.00811	T	-0.452219	0.27451	T	0.046157782892426	0.04813	T	0.884611	0.60805	D	0.13276556	0.30903	0.11703254	0.28251	0.13276556	0.30903	0.11703254	0.28251	-4.427	0.30652	T	.	.	0.067	0.03162	B	.;.;.;.;.	.;.;.;.;.	0.554674	0.09233	6.015	0.075426566425163322	0.00044	0.18383	0.20238	N	AEFDBI	.	.	.	-0.736899832348498	0.14991	0.751616	-0.865687812368389	0.12910	0.6668804	0.999769633455647	0.42728	0.722319	0.85440	0	0.697927	0.68747	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	5.71	-1.87	0.07317	-0.051000	0.11840	0.505000	0.19029	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1699:0.303:0.3787:0.1484	3.310	0.06601	780	0.47616	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1819.43	34	chr4	87047013	.	C	A	1819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.1;DP=465;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.501;SOR=0.778	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1831,0,1947	9	0	1	0
chr4	87114964	87114964	G	A	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.G1024A:p.V342I,AFF1:NM_001313959:exon11:c.G2110A:p.V704I,AFF1:NM_005935:exon11:c.G2110A:p.V704I,AFF1:NM_001166693:exon12:c.G2131A:p.V711I	.	9	1465	44	4	0	52	0.017438	.	.	.	698669	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	.	0.0061	0.0071885	0.0068	0.0018	0.0050	0	0.0009	0.0087	0.0067	0.0095	0.00641	991	154602	rs148578175	0.0069	0.0069	0.0067	0.0071	0.0344	0.0068	0.0067	0.0304	0.0289	0.0015	0.0051	0.0239	2.519e-05	0.0011	0.0344	0.0067	0.0087	0.0111	0.0058	0.0058	0.0058	0.0057	0.0139	0.0055	0.0053	0.0112	0.0103	0.0009	0.0463	0.0076	0.0245	0	0.0007	0.0170	0.0074	0.0085	0.0139	0.36	0.11919	T	0.494	0.11479	T	0.642	0.40458	P	0.136	0.33270	B	0.040227	0.01875	N	2.061550	1	0.08975	N	2.155	0.60227	M	-0.18	0.65747	T	-0.51	0.15986	N	0.277	0.31365	-0.9565	0.39825	T	0.138	0.45545	T	10	0.0039743185	0.00077	T	.	.	.	0.123	0.34020	.	.	0.504113619024	0.50048	0.06630700764151948	0.06569	0.0434929808828	0.04688	0.415149450302	0.27169	T	0.108601	0.42178	T	-0.534162	0.00363	T	-0.532101	0.19077	T	0.00599552393707182	0.00066	T	0.811819	0.46793	T	0.01920801	0.00447	0.024641436	0.00487	0.01920801	0.00447	0.024641436	0.00487	-4.352	0.28900	T	.	.	0.101	0.24123	B	.;.;.	.;.;.	1.791394	0.22773	15.76	0.99000417168050792	0.50127	0.13879	0.18102	N	AEFBCI	0.044556	0.07182	N	-0.349133110690798	0.27303	1.496958	-0.389330192651834	0.25313	1.391345	0.906702912693222	0.26239	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.79	2.64	0.30504	1.031000	0.29773	4.408000	0.43271	0.618000	0.50648	0.001000	0.13787	1.000000	0.68203	0.989000	0.64315	0.2041:0.0:0.2956:0.5003	2.500	0.04349	760	0.50470	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.029204	0.030303	0.021739	0.052632	0.050000	0.051724	0.030488	0.015152	0.05	1052.43	37	chr4	87114964	.	G	A	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.101;DP=395;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.246;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	9	0	1	0
chr4	87195337	87195337	T	A	exonic	KLHL8	.	nonsynonymous SNV	KLHL8:NM_001292003:exon2:c.A203T:p.D68V,KLHL8:NM_001292006:exon2:c.A203T:p.D68V,KLHL8:NM_001292007:exon2:c.A203T:p.D68V,KLHL8:NM_020803:exon2:c.A203T:p.D68V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.712887787306	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349537086	1.37e-06	2.052e-06	1.363e-06	1.377e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.046479	1	0.81001	D	4.435	0.98769	H	-2.85	0.91363	D	-7.97	0.96368	D	0.976	0.98657	1.072	0.98636	D	0.909	0.96972	D	10	0.9869686	0.99036	D	0.712888	0.97667	D	0.946	0.98921	0.938	0.99130	0.980709010365	0.98049	0.9197212450678696	0.91948	1.55586283606	0.87969	0.757380068302	0.75540	T	0.771662	0.93893	D	0.486884	0.93919	D	0.461599	0.93841	D	0.999767959117889	0.98882	D	0.969303	0.88939	D	0.9140215	0.92673	0.8546341	0.91816	0.9140215	0.92674	0.8546341	0.91816	-16.154	0.97983	D	.	.	0.996	0.96595	P	.;.;.;.	.;.;.;.	4.938713	0.81482	27.6	0.99307919088402763	0.58869	0.97837	0.77499	D	AEFGBI	0.868725	0.78897	D	0.87722993309663	0.90600	10.47838	0.791917809429253	0.89225	9.88878	0.999999998095101	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.527494	0.11647	0	0.655142	0.61905	0	.	.	5.34	5.34	0.75982	7.502000	0.80447	7.789000	0.68848	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:0.0:0.0:1.0	15.318	0.73804	797	0.45241	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;.;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	1547.14	33	chr4	87195337	.	T	A	1547.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.242;DP=395;ExcessHet=0.2348;FS=2.486;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.681;SOR=0.483	GT:AD:DP:GQ:PL	0/1:30,33:63:99:793,0,727	8	0	2	0
chr4	87423002	87423002	C	A	exonic	NUDT9	.	nonsynonymous SNV	NUDT9:NM_001248011:exon1:c.C97A:p.Q33K,NUDT9:NM_024047:exon1:c.C97A:p.Q33K	.	432	1065	23	2	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0157474442518	0.0028	0.00219649	0.0030	0.0008	0.0014	0	0.0006	0.0039	0.0044	0.0043	0.0029172	451	154602	rs146952902	0.0030	0.0030	0.0029	0.0032	0.0210	0.0030	0.0029	0.0179	0.0168	0.0007	0.0017	0.0063	0	0.0006	0.0210	0.0031	0.0037	0.0044	0.0024	0.0024	0.0023	0.0025	0.0035	0.0022	0.0021	0.0031	0.0030	0.0006	0.0318	0.0016	0.0052	0	0.0003	0.0102	0.0035	0.0071	0.0023	0.299	0.14595	T	0.732	0.06448	T	0.0	0.02946	B	0.001	0.04355	B	0.159179	0.17718	N	0.536650	1	0.21117	N	0	0.06538	N	-0.95	0.75438	T	-0.03	0.07444	N	0.102	0.08506	-0.9309	0.44006	T	0.130	0.43907	T	10	0.0036392808	0.00066	T	0.015747	0.36654	T	0.058	0.16647	.	.	0.751563266754	0.74931	0.6665438887137366	0.66592	0.447342404213	0.44593	0.320701599121	0.13528	T	0.044926	0.32375	T	-0.444816	0.01211	T	-0.411458	0.32056	T	0.00758554600725381	0.00088	T	0.232977	0.03672	T	0.0655083	0.14007	0.060480315	0.11525	0.0655083	0.14007	0.060480315	0.11524	-3.956	0.23143	T	.	.	0.073	0.08033	B	.;.	.;.	0.312258	0.06872	3.407	0.75623271815446069	0.11147	0.08455	0.14382	N	ALL	0.072755	0.14531	N	-0.952301312095	0.09641	0.4571769	-0.95089995723086	0.10901	0.5520998	0.999999992765565	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.56	2.71	0.31092	0.616000	0.24038	0.513000	0.19097	0.549000	0.26987	0.004000	0.16614	0.001000	0.17328	0.004000	0.06068	0.0:0.7534:0.2466:0.0	9.128	0.35987	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.015152	0.009511	0.029240	0.000000	0.025862	0.015244	0.022727	0.05	1601.43	36	chr4	87423002	.	C	A	1601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.424;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.46;SOR=0.661	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr4	87614962	87614962	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2300A:p.S767N	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2291899	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.0440600127537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263524662	7.862e-06	7.525e-06	2.821e-06	1.304e-05	2.802e-05	4.22e-06	3.08e-06	3.93e-06	2.84e-06	0	2.802e-05	0	0	0	0	8.342e-06	1.725e-05	0	6.58e-06	6.573e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.101	0.38596	T	0.938	0.52538	P	0.135	0.33210	B	.	.	.	.	0.999927	0.19486	N	1.7	0.43825	L	-2.28	0.87512	D	-1.32	0.32991	N	0.1	0.08227	-0.6415	0.63082	T	0.356	0.71904	T	9	0.112769485	0.21164	T	0.04406	0.61297	D	0.217	0.51112	0.281	0.23642	0.535439087667	0.53195	9.594417420931471E-4	0.00088	.	.	.	.	.	0.087187	0.37888	T	-0.177233	0.24148	T	-0.476874	0.24780	T	0.0688517766612291	0.08489	T	0.276972	0.04759	T	0.14846388	0.33892	0.09478699	0.22453	0.14846388	0.33892	0.09478699	0.22453	-7.664	0.58757	D	.	.	.	.	.	.	.	0.270340	0.06479	2.957	0.44491256909068089	0.03424	0.04855	0.10590	N	AEFGBCI	0.034080	0.04159	N	-0.813233381716828	0.12972	0.6358705	-0.992259929687584	0.09958	0.4985666	0.00263837893053673	0.09592	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	1.33	1.33	0.20958	-0.199000	0.09493	0.226000	0.16132	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	6.084	0.19179	500	0.76024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	677.43	36	chr4	87614962	.	G	A	677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.369;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.649;SOR=0.859	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1306	9	0	1	0
chr4	87615398	87615398	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1101	241	102	25	53	205	0.239748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1802.88	30	chr4	87615398	.	T	*	1802.88	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.79;DP=375;ExcessHet=0.2065;FS=5.447;InbreedingCoeff=0.2;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.15;SOR=0.97	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,108,1563	9	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5581.44	43	chr4	87615730	.	ATAG	*	5581.44	.	AC=8;AF=0.4;AN=20;DP=390;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=58.11;QD=19.52;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:49:99:1|1:87615730_ATAG_A:2065,1608,1543:87615730	4	2	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4265.86	19	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4265.86	.	AC=8;AF=0.4;AN=20;DP=428;ExcessHet=0;FS=2.751;InbreedingCoeff=0.6078;MLEAC=8;MLEAF=0.4;MQ=57.76;QD=20.22;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:25:99:1|1:87615730_ATAG_A:2067,1092,1328:87615730	4	2	4	0
chr4	87615923	87615924	CA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1074	227	3	1	217	222	0.0108932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615923	.	CA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:15:99:1|0:87615883_A_G:630,462,450:87615883	1	4	2	3
chr4	87615925	87615936	GTGACAGCAGCA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1073	228	3	1	217	222	0.010846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615925	.	GTGACAGCAGCA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,4:15:99:1|0:87615883_A_G:630,462,450:87615883	1	4	2	3
chr4	87615936	87615936	A	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2341.51	12	chr4	87615936	.	A	*	2341.51	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.37;DP=206;ExcessHet=0;FS=1.176;InbreedingCoeff=0.5238;MLEAC=5;MLEAF=0.357;MQ=52.77;MQRankSum=-2.984;QD=19.04;ReadPosRankSum=-1.078;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,11:14:93:0|1:87615883_A_G:588,126,93:87615883	4	1	2	3
chr4	87615953	87615955	CGA	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3291_3293del:p.D1098del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0128	0.0294	0.0156	0.0188	0	0.0121	0.0161	0.0101	3.84e-05	1	26028	rs748972998	0.0018	0.0011	0.0013	0.0023	0.0064	0.0017	0.0017	0.0058	0.0056	0.0035	0.0004	0.0072	0	0.0031	0.0044	0.0010	0.0023	0.0064	0.0159	0.0080	0.0145	0.0174	0.0253	0.0147	0.0142	0.0194	0.0173	0.0037	0.0828	0.0107	0.0399	0	0.0319	0.0125	0.0160	0.0159	0.0253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	337.62	10	chr4	87615952	.	GCGA	G	337.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.27;DP=205;ExcessHet=0;FS=0;InbreedingCoeff=0.3502;MLEAC=1;MLEAF=0.056;MQ=59.56;MQRankSum=-3.079;QD=3.01;ReadPosRankSum=-0.12;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:12:.:.:0,12,180:.	8	0	1	1
chr4	87615952	87615955	GCGA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1179	318	11	12	2	37	0.052161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	337.62	10	chr4	87615952	.	GCGA	*	337.62	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.27;DP=205;ExcessHet=0;FS=0;InbreedingCoeff=0.3502;MLEAC=2;MLEAF=0.111;MQ=59.56;MQRankSum=-3.079;QD=3.01;ReadPosRankSum=-0.12;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:12:.:.:0,12,180:.	8	1	0	1
chr4	87615957	87615962	AGCAGC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3295_3300del:p.S1099_S1100del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1160	197	41	98	26	263	0.375594	.	.	.	1190239	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0072	0.0216	0.0125	0	0	0.0069	0.0185	0.0054	3.84e-05	1	26028	rs764563712	0.0026	0.0012	0.0018	0.0033	0.0118	0.0024	0.0024	0.0107	0.0103	0.0045	0.0012	0.0117	0	0.0040	0.0070	0.0013	0.0036	0.0118	0.0182	0.0074	0.0165	0.0201	0.0491	0.0168	0.0162	0.0373	0.0332	0.0043	0.1096	0.0100	0.0499	0	0.0412	0.0250	0.0170	0.0196	0.0491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2060.48	9	chr4	87615956	.	TAGCAGC	T	2060.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=202;ExcessHet=1.1394;FS=0.575;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.071;MQ=55.79;MQRankSum=-3.079;QD=12.05;ReadPosRankSum=-0.475;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:13:37:1|1:87615883_A_G:542,542,542:87615883	6	0	1	3
chr4	87615956	87615962	TAGCAGC	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1160	197	41	98	26	263	0.375594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2060.48	9	chr4	87615956	.	TAGCAGC	*	2060.48	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.43;DP=202;ExcessHet=1.1394;FS=0.575;InbreedingCoeff=0.0476;MLEAC=3;MLEAF=0.214;MQ=55.79;MQRankSum=-3.079;QD=12.05;ReadPosRankSum=-0.475;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:13:37:1|1:87615883_A_G:542,542,542:87615883	6	1	0	3
chr4	87615962	87615962	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1559.34	6	chr4	87615962	.	C	*	1559.34	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.42;DP=188;ExcessHet=0.3476;FS=0.585;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.286;MQ=50.32;MQRankSum=-4.222;QD=9.51;ReadPosRankSum=0.124;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:9:25:1|1:87615883_A_G:362,362,362:87615883	5	1	1	3
chr4	87615971	87615971	C	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1098.88	4	chr4	87615971	.	C	*	1098.88	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.83;DP=163;ExcessHet=0.0921;FS=4.117;InbreedingCoeff=0.3407;MLEAC=3;MLEAF=0.214;MQ=49.23;MQRankSum=-1.834;QD=13.91;ReadPosRankSum=-0.253;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:7:21:1|1:87615883_A_G:315,315,315:87615883	6	1	0	3
chr4	87616001	87616001	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1074	417	12	15	4	46	0.0479452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	31.75	3	chr4	87616001	.	T	*	31.75	.	AC=2;AF=0.111;AN=18;DP=135;ExcessHet=0;FS=0;InbreedingCoeff=0.742;MLEAC=2;MLEAF=0.111;MQ=60;QD=0.88;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:9:.:.:0,9,135:.	8	1	0	1
chr4	87616007	87616007	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1058	432	2	4	26	36	0.0114416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	31.56	3	chr4	87616007	.	T	*	31.56	.	AC=2;AF=0.111;AN=18;DP=139;ExcessHet=0;FS=0;InbreedingCoeff=0.789;MLEAC=2;MLEAF=0.111;MQ=60;QD=0.88;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:5,0:5:0:.:.:0,0,127:.	8	1	0	1
chr4	87616008	87616008	G	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1045	447	12	14	4	44	0.0428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	31.03	3	chr4	87616008	.	G	*	31.03	.	AC=2;AF=0.1;AN=20;DP=140;ExcessHet=0;FS=0;InbreedingCoeff=0.8895;MLEAC=2;MLEAF=0.1;MQ=60;QD=0.86;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:9:.:.:0,9,135:.	9	1	0	0
chr4	87616227	87616235	AGCAGTGAC	-	exonic	DSPP	.	nonframeshift deletion	DSPP:NM_014208:exon5:c.3565_3573del:p.S1229_S1231del	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	483	953	63	17	6	103	0.0484274	.	.	.	2820010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0005	0.0049	0.0016	0	0.0013	0	0.0011	0.0001876	29	154602	rs765237365	0.0011	0.0018	0.0010	0.0012	0.0057	0.0011	0.0010	0.0051	0.0048	0.0005	0.0032	0.0011	0.0057	0.0026	0.0042	0.0008	0.0012	0.0010	0.0011	0.0020	0.0010	0.0012	0.0037	0.0009	0.0009	0.0023	0.0018	0.0005	0	0.0016	0.0003	0.0037	0.0016	0.0052	0.0011	0.0022	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	753.13	47	chr4	87616226	.	TAGCAGTGAC	T	753.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.429;DP=376;ExcessHet=0.2348;FS=0.981;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.23;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.144;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	9	0	1	0
chr4	87616232	87616232	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1637.3	47	chr4	87616232	.	T	*	1637.3	.	AC=1;AF=0.056;AN=18;DP=380;ExcessHet=0;FS=3.754;InbreedingCoeff=0.4805;MLEAC=1;MLEAF=0.056;MQ=59.26;MQRankSum=0;QD=25.99;ReadPosRankSum=-2.271;SOR=1.347	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	8	0	1	1
chr4	87845508	87845508	C	A	exonic	MEPE	.	nonsynonymous SNV	MEPE:NM_001184694:exon4:c.C640A:p.H214N,MEPE:NM_001291183:exon4:c.C733A:p.H245N,MEPE:NM_020203:exon4:c.C640A:p.H214N,MEPE:NM_001184695:exon5:c.C301A:p.H101N,MEPE:NM_001184696:exon5:c.C301A:p.H101N,MEPE:NM_001184697:exon6:c.C301A:p.H101N	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00806682635962	.	.	3.329e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs546864364	1.437e-05	1.436e-05	6.811e-06	2.201e-05	0.0001	9.24e-06	7.84e-06	6.253e-05	4.762e-05	0	0	0	0	0	0	7.196e-06	4.972e-05	0.0001	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.199	0.22486	T	0.644	0.18846	T	0.958	0.54977	D	0.762	0.56524	P	0.204941	0.03346	N	1.605180	1	0.08975	N	2.25	0.63811	M	0.89	0.45636	T	-4.12	0.75537	D	0.209	0.34659	-1.0325	0.19650	T	0.175	0.51864	T	10	0.21617103	0.38191	T	0.008067	0.21393	T	0.104	0.29647	0.346	0.34112	0.493494165309	0.48982	0.03543365662305646	0.03490	0.209138445766	0.23382	0.285765171051	0.08309	T	0.357678	0.72435	T	-0.465323	0.00910	T	-0.626745	0.10663	T	0.566508412361145	0.35102	D	0.759024	0.38317	T	0.15650588	0.35315	0.1357062	0.32484	0.15650588	0.35314	0.1357062	0.32483	-2.543	0.06286	T	.	.	0.100	0.20702	B	.;.;.;.;.;.	.;.;.;.;.;.	1.296412	0.16976	12.88	0.9483964702501404	0.25629	0.01367	0.04671	N	AEFBI	0.044335	0.07119	N	-0.23393531863186	0.31750	1.783431	-0.448112198697974	0.23602	1.287995	0.0201995692723846	0.13234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	1.84	0.24348	-0.359000	0.07683	0.766000	0.21355	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2046:0.5192:0.174:0.1022	2.641	0.04669	661	0.61838	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	246.43	34	chr4	87845508	.	C	A	246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.986;DP=371;ExcessHet=0;FS=5.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=0.522;SOR=0.2	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1091	9	0	1	0
chr4	87982879	87982879	T	G	exonic	SPP1	.	nonsynonymous SNV	SPP1:NM_001251829:exon5:c.T805G:p.S269A,SPP1:NM_000582:exon6:c.T886G:p.S296A,SPP1:NM_001040060:exon6:c.T847G:p.S283A,SPP1:NM_001040058:exon7:c.T928G:p.S310A,SPP1:NM_001251830:exon8:c.T967G:p.S323A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0244222823685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.0	0.92824	D	0.989	0.62824	D	0.859	0.61184	P	0.000370	0.45194	D	0.099263	0.544296	0.32080	D	2.175	0.60977	M	0.83	0.47815	T	-2.23	0.50012	N	0.45	0.53445	-0.4930	0.68902	T	0.241	0.60929	T	10	0.55175084	0.64295	D	0.024422	0.47408	T	0.231	0.53208	0.575	0.69957	0.909837518767	0.90893	0.09036833743925907	0.08969	0.354020575304	0.37190	0.404117554426	0.25642	T	0.347089	0.71526	T	-0.085944	0.38743	T	-0.361229	0.37910	T	0.963194012641907	0.66587	D	0.739226	0.38090	T	0.31291234	0.54037	0.26579604	0.52417	0.31291234	0.54037	0.26579604	0.52416	-5.351	0.40640	T	.	.	0.141	0.31048	B	.;.;.;.	.;.;.;.	4.239112	0.64256	24.7	0.9960039175833606	0.74160	0.82939	0.42102	D	AEFGBI	0.545947	0.56025	D	0.527703777878107	0.68734	5.258139	0.51446755416131	0.68961	5.293083	0.999661688606312	0.41534	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.8	5.8	0.92081	3.573000	0.53600	7.864000	0.71599	0.652000	0.53365	0.819000	0.29975	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	12.527	0.55439	620	0.66037	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	649.43	35	chr4	87982879	.	T	G	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.154;DP=408;ExcessHet=0;FS=2.572;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.959;SOR=1.111	GT:AD:DP:GQ:PL	0/0:43,0:43:96:0,96,1440	9	0	1	0
chr4	88051997	88051997	G	A	exonic	PKD2	.	nonsynonymous SNV	PKD2:NM_000297:exon7:c.G1555A:p.V519M	Polycystic kidney disease 2	1	224	0	1	0	2	0.00444444	.	.	.	221478	Polycystic_kidney_disease_2|not_specified|PKD2-related_disorder|Autosomal_dominant_polycystic_kidney_disease	MONDO:MONDO:0013131,MedGen:C2751306,OMIM:613095|MedGen:CN169374|.|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0307800702976	.	.	6.7e-05	0	0	0	0	0.0001	0	6.099e-05	7.12e-05	11	154602	rs148920907	7.463e-05	8.144e-05	6.89e-05	8.038e-05	0.0019	6.293e-05	5.866e-05	0.0011	0.0008	0	2.251e-05	0	0	0	0.0019	5.861e-05	0.0002	0.0003	3.943e-05	3.94e-05	3.854e-05	4.037e-05	0.0002	1.716e-05	1.13e-05	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.042	0.41637	D	0.044	0.49663	D	0.254	0.31272	B	0.469	0.46748	P	0.001269	0.39594	N	0.249328	0.999971	0.81001	D	2.2	0.62015	M	-0.68	0.72568	T	-1.2	0.30555	N	0.292	0.33030	-0.4084	0.71761	T	0.345	0.70988	T	10	0.28543022	0.46125	T	0.03078	0.53014	D	0.329	0.65126	.	.	0.790736096559	0.78879	0.7540853770535401	0.75355	0.463816329674	0.45873	0.36049592495	0.19458	T	0.379439	0.74219	T	-0.133409	0.30945	T	-0.149974	0.59246	T	0.0644014403223991	0.07842	T	0.79652	0.44001	T	0.11277727	0.26641	0.07457088	0.16326	0.11277727	0.26641	0.07457088	0.16326	-5.629	0.43057	T	0.3329220957017701	0.43091	0.096	0.15520	B	.	.	2.271723	0.29037	17.99	0.99674203069258982	0.78782	0.75804	0.37135	D	AEFBI	0.192018	0.31919	N	-0.172911582952449	0.34266	1.953752	-0.19595334024948	0.31685	1.795481	0.999906605070148	0.45458	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.33	4.47	0.53770	1.127000	0.30970	0.202000	0.15863	0.670000	0.69193	0.668000	0.28331	0.000000	0.08366	0.387000	0.26492	0.0734:0.0:0.7864:0.1402	9.806	0.39960	483	0.77230	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	593.43	35	chr4	88051997	.	G	A	593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=366;ExcessHet=0;FS=1.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.255;SOR=0.919	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	9	0	1	0
chr4	88265027	88265027	C	T	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon6:c.G961A:p.E321K	.	.	.	.	.	.	.	.	.	.	.	698678	Maple_syrup_urine_disease,_mild_variant|not_provided	MONDO:MONDO:0014057,MedGen:C3554575,OMIM:615135,Orphanet:511|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0106	0.0105831	0.0028	0.0308	0.0016	0	0	5.998e-05	0.0011	6.056e-05	0.0027749	429	154602	rs35523553	0.0010	0.0010	0.0011	0.0008	0.0322	0.0009	0.0009	0.0306	0.0300	0.0322	0.0020	0	2.519e-05	0	0.0009	5.845e-05	0.0026	9.275e-05	0.0088	0.0088	0.0092	0.0084	0.0298	0.0084	0.0082	0.0284	0.0279	0.0298	0	0.0050	0	0	0	0.0034	0.0001	0.0066	0	.	.	.	0.079	0.47097	T	0.803	0.45133	P	0.301	0.41090	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.57	0.39626	L	.	.	.	.	.	.	0.648	0.65930	-1.1507	0.01004	T	0.016	0.06569	T	10	0.00920701	0.00208	T	.	.	.	.	.	.	.	0.317378411342	0.31341	0.7216699180538069	0.72110	0.496838642824	0.48184	0.562653064728	0.47641	T	0.234703	0.60179	T	-0.31415	0.07387	T	-0.199657	0.54679	T	0.0376512945087248	0.03271	T	0.790321	0.43132	T	0.666243	0.76232	0.5127588	0.71845	0.666243	0.76233	0.5127588	0.71845	-7.829	0.59899	D	.	.	0.352	0.56728	A	.;.	.;.	3.899918	0.56807	23.8	0.99891446493598224	0.96513	0.98960	0.89201	D	AEFBI	0.777875	0.71055	D	0.297386825169747	0.56016	3.76581	0.347674438163293	0.58366	4.006874	0.999999998007228	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.21	5.21	0.72005	5.963000	0.70086	5.790000	0.49863	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.155000	0.20479	0.0:1.0:0.0:0.0	18.059	0.89297	670	0.60992	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1150.43	33	chr4	88265027	.	C	T	1150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.601;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.774;SOR=0.693	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1162,0,1101	9	0	1	0
chr4	88278508	88278508	G	A	exonic	PPM1K	.	nonsynonymous SNV	PPM1K:NM_152542:exon2:c.C76T:p.R26C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00498902464242	.	.	8.256e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs760164545	5.472e-06	5.472e-06	5.445e-06	5.5e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.239	0.17761	T	0.082	0.45110	T	0.001	0.07471	B	0.0	0.01387	B	0.005746	0.32538	N	0.328929	0.96835	0.38654	D	1.245	0.31408	L	1.9	0.23486	T	-0.96	0.25551	N	0.249	0.32812	-1.0804	0.07272	T	0.063	0.26101	T	10	0.12448421	0.23644	T	0.004989	0.12598	T	0.146	0.38789	0.496	0.58520	0.282575091529	0.27877	0.6931994197547087	0.69259	0.352968742451	0.37116	0.346081227064	0.17344	T	0.094335	0.39395	T	-0.121437	0.32888	T	-0.396727	0.33764	T	0.399813920259476	0.28935	T	0.840716	0.51609	T	0.07281173	0.16224	0.039855696	0.04174	0.07281173	0.16224	0.039855696	0.04173	-5.573	0.42545	T	.	.	0.116	0.25560	B	.;.;.;.	.;.;.;.	3.372048	0.46602	22.3	0.99165189833577094	0.54212	0.87334	0.46841	D	AEFDGBI	0.366019	0.45398	N	-0.348263781191173	0.27336	1.49897	-0.172037474522645	0.32571	1.854325	0.999990423282223	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.667671	0.60360	0	0.567892	0.33627	0	.	.	4.31	3.43	0.38372	2.716000	0.46888	2.747000	0.34506	0.524000	0.24156	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0953:0.0:0.7127:0.192	6.380	0.20735	677	0.60274	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1828.43	33	chr4	88278508	.	G	A	1828.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=439;ExcessHet=0;FS=4.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-1.849;SOR=1.157	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	9	0	1	0
chr4	88463905	88463905	T	A	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon6:c.T831A:p.H277Q	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.0731254118467	7.7e-05	.	0.0002	0	8.637e-05	0	0	0.0001	0.0022	0.0004	0.0001294	20	154602	rs374092530	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0005	0.0004	5.974e-05	4.472e-05	0.0015	0	0	0.0005	6.925e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0006	7.093e-05	5.749e-05	0.0002	9.003e-05	0	0	0	0.0009	0	0	0.0032	0.0001	0.0005	0.0006	0.11	0.29158	T	0.154	0.32040	T	0.981	0.59675	D	0.903	0.64103	P	0.000131	0.49741	D	0.085303	0.969353	0.25758	N	1.715	0.44382	L	-1.89	0.84557	D	-6.05	0.89796	D	0.564	0.58798	0.139	0.84857	D	0.643	0.87548	D	10	0.4694933	0.59774	T	0.073125	0.71708	D	0.539	0.80723	0.255	0.19533	0.876783370928	0.87557	0.6004895382415155	0.59979	0.635353057101	0.57353	0.529098510742	0.42907	T	0.576571	0.86067	D	-0.154128	0.27668	T	-0.122912	0.61562	T	0.204001224069152	0.20635	T	0.767723	0.39623	T	0.49505675	0.66804	0.5729927	0.75268	0.49505675	0.66804	0.5729927	0.75269	-9.627	0.71647	D	.	.	0.648	0.70824	P	.	.	3.432308	0.47710	22.5	0.98746976734076564	0.45602	0.74618	0.36507	D	AEBI	0.214985	0.34039	N	0.119246842695716	0.47361	2.962871	0.0286865387529709	0.41052	2.460004	0.991335195852194	0.32453	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.586402	0.36253	0	.	.	4.75	0.949	0.18691	0.924000	0.28378	0.092000	0.14529	-0.218000	0.08083	1.000000	0.71638	0.951000	0.29025	0.893000	0.43066	0.0:0.6063:0.0:0.3937	8.965	0.35031	767	0.49651	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1703.43	34	chr4	88463905	.	T	A	1703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=462;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.062;SOR=0.666	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1264	9	0	1	0
chr4	89113579	89113579	G	A	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.G605A:p.C202Y,TIGD2:NM_145715:exon2:c.G605A:p.C202Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0065	0.00459265	0.0016	0.0181	0.0005	0	0	1.504e-05	0.0033	6.057e-05	0.0015394	238	154602	rs78983503	0.0005	0.0005	0.0006	0.0004	0.0185	0.0005	0.0005	0.0173	0.0168	0.0185	0.0008	0	0	0	0.0009	1.259e-05	0.0012	2.319e-05	0.0048	0.0048	0.0052	0.0044	0.0165	0.0045	0.0044	0.0154	0.0150	0.0165	0	0.0023	0	0	0	0	7.35e-05	0.0028	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.141785	0.18265	N	0.292413	1	0.08975	N	-1.74	0.00328	N	1.01	0.41058	T	1.88	0.00467	N	0.043	0.02088	-0.9850	0.33832	T	0.012	0.04558	T	10	0.0025988221	0.00040	T	.	.	.	0.035	0.08770	.	.	0.0846915920261	0.08053	0.1623757133154859	0.16157	0.202476660202	0.22669	0.499085187912	0.38701	T	0.005093	0.04527	T	-0.64563	0.00077	T	-0.686553	0.06591	T	0.00131607382943967	0.00013	T	0.327067	0.06771	T	0.04376776	0.06881	0.06339459	0.12551	0.04376776	0.06881	0.06339459	0.12551	-0.745	0.00757	T	.	.	0.066	0.02091	B	.;.	.;.	1.008302	0.13873	10.43	0.63667864806010199	0.07285	0.09547	0.15278	N	ALL	0.021738	0.01002	N	-1.05825116238452	0.07426	0.3449592	-0.822416593216146	0.13953	0.7265648	0.999999998197703	0.74766	0.653281	0.48532	0	0.659037	0.61890	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	3.97	1.53	0.22224	0.930000	0.28458	2.955000	0.35730	-0.118000	0.14412	0.124000	0.23245	0.982000	0.30508	0.994000	0.71098	0.6359:0.0:0.364:0.0	5.827	0.17818	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1272.43	34	chr4	89113579	.	G	A	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.413;DP=438;ExcessHet=0;FS=4.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.853;SOR=0.522	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1284,0,1530	9	0	1	0
chr4	89113762	89113762	G	A	exonic	TIGD2	.	nonsynonymous SNV	TIGD2:NM_001382380:exon2:c.G788A:p.R263K,TIGD2:NM_145715:exon2:c.G788A:p.R263K	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00177332286756	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs754436347	4.788e-06	4.788e-06	2.722e-06	6.875e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.952	0.02136	T	0.933	0.02750	T	0.002	0.09854	B	0.003	0.08700	B	0.028369	0.25612	N	0.274240	0.999376	0.21289	N	-0.49	0.02651	N	1.01	0.41058	T	0.27	0.04306	N	0.17	0.18103	-1.0217	0.23162	T	0.045	0.19478	T	10	0.06915411	0.09882	T	0.001773	0.03012	T	0.044	0.11924	0.607	0.73945	0.264547087235	0.26054	0.1901371961342062	0.18931	0.140382735121	0.15837	0.48381587863	0.36582	T	0.009036	0.08254	T	-0.304276	0.08262	T	-0.577994	0.14725	T	0.0245531642926208	0.01215	T	0.665633	0.27494	T	0.054865055	0.10585	0.04751043	0.06858	0.054865055	0.10585	0.04751043	0.06858	-2.452	0.05462	T	.	.	0.091	0.16407	B	.;.	.;.	1.375064	0.17855	13.41	0.75720848729712609	0.11185	0.42486	0.26888	N	AEFGBHCI	0.068684	0.13561	N	-0.536468681587165	0.20910	1.105796	-0.349870514362063	0.26513	1.464932	0.999996216934634	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.49	2.67	0.30756	0.479000	0.21938	2.868000	0.35247	0.676000	0.76740	0.555000	0.27385	1.000000	0.68203	1.000000	0.97212	0.3265:0.0:0.6735:0.0	6.239	0.19987	862	0.33134	DDE superfamily endonuclease domain;DDE superfamily endonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2010.43	34	chr4	89113762	.	G	A	2010.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.929;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-0.117;SOR=0.71	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr4	89248723	89248723	A	G	exonic	GPRIN3	.	nonsynonymous SNV	GPRIN3:NM_198281:exon2:c.T1388C:p.L463P	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0002	0.00698882	0.0042	0	0.0004	0.0005	0	0.0001	0.0044	0.0297	0.0036739	568	154602	rs151231128	0.0018	0.0018	0.0010	0.0026	0.0278	0.0018	0.0017	0.0269	0.0265	8.961e-05	8.944e-05	0	0.0004	1.872e-05	0.0026	8.004e-05	0.0021	0.0278	0.0009	0.0009	0.0005	0.0013	0.0257	0.0008	0.0007	0.0220	0.0207	4.813e-05	0	0	0	0.0010	0	0	5.88e-05	0.0009	0.0257	0.108	0.29420	T	0.323	0.18959	T	0.012	0.16265	B	0.006	0.12133	B	0.783641	0.06669	N	1.183400	0.999985	0.18198	N	0.975	0.24501	L	2.65	0.12676	T	-0.67	0.19297	N	0.106	0.10198	-0.9602	0.39143	T	0.016	0.06711	T	10	0.0023795068	0.00035	T	.	.	.	0.015	0.02232	.	.	0.0138822411134	0.00435	0.10690090498556341	0.10620	0.0600706684607	0.06680	0.278780698776	0.07323	T	0.003473	0.02879	T	-0.693168	0.00040	T	-0.746152	0.03638	T	0.00469239226640054	0.00050	T	0.335866	0.07168	T	0.047295425	0.08062	0.076753885	0.17030	0.047295425	0.08061	0.076753885	0.17030	-3.361	0.14537	T	.	.	0.075	0.07460	B	.;.	.;.	0.473282	0.08429	5.185	0.90898581102564713	0.20147	0.02745	0.07425	N	AEFDBI	0.062074	0.11910	N	-1.12306451680512	0.06234	0.2864517	-1.16467511038423	0.06509	0.3135067	0.999978954908935	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.89	-3.02	0.05116	-0.508000	0.06426	0.350000	0.17468	0.756000	0.94297	0.031000	0.20493	0.006000	0.19429	0.023000	0.12082	0.1894:0.1341:0.3172:0.3593	1.080	0.01539	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1938.43	71	chr4	89248723	.	A	G	1938.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.297;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.06;SOR=0.705	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	9	0	1	0
chr4	89894979	89894979	G	A	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon1:c.G8A:p.G3E,MMRN1:NM_001371403:exon2:c.G8A:p.G3E	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.146556525103	.	.	5.146e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs752635655	2.539e-05	2.531e-05	9.548e-06	4.142e-05	0.0004	1.873e-05	1.636e-05	0.0003	0.0003	0	0	0	0	0	0	1.803e-06	1.662e-05	0.0004	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.019	0.59159	D	0.931	0.51899	P	0.36	0.43183	B	0.530047	0.11648	N	0.746399	0.999994	0.08975	N	1.895	0.50365	L	-0.77	0.73523	T	-0.93	0.24898	N	0.094	0.07535	-0.3065	0.74804	T	0.576	0.84707	D	10	0.108300924	0.20155	T	0.146557	0.82866	D	0.282	0.59981	0.437	0.48993	0.723002516678	0.72055	0.31694802863923477	0.31607	0.0347088691901	0.03653	0.330532371998	0.15015	T	0.046072	0.27314	T	-0.292353	0.09400	T	-0.32772	0.41722	T	0.182919197269042	0.19418	T	0.540046	0.18281	T	0.071418785	0.15810	0.117080055	0.28264	0.071418785	0.15810	0.117080055	0.28263	-4.563	0.31703	T	.	.	0.115	0.28086	B	.;.	.;.	1.374821	0.17855	13.41	0.97255930338226593	0.33066	0.07313	0.13335	N	AEFGBHCI	0.073978	0.14813	N	-0.403281954864039	0.25353	1.375702	-0.510478014462162	0.21869	1.185061	0.999999830206987	0.74766	0.730579	0.87903	0	0.159064	0.03852	3	0.624306	0.44879	0	0.648885	0.59868	0	.	.	4.91	0.973	0.18829	0.170000	0.16476	1.372000	0.25964	-0.105000	0.15698	0.098000	0.22752	0.962000	0.29361	0.983000	0.59808	0.0:0.5791:0.4209:0.0	14.886	0.70202	871	0.31377	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	857.43	33	chr4	89894979	.	G	A	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.196;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.63;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	9	0	1	0
chr4	89935826	89935826	C	T	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon6:c.C2146T:p.R716C,MMRN1:NM_001371403:exon7:c.C2146T:p.R716C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0991169035158	0.0002	0.000199681	9.169e-05	0.0010	0	0	0	1.516e-05	0	0	7.76e-05	12	154602	rs377031358	2.875e-05	2.873e-05	2.452e-05	3.302e-05	0.0009	2.153e-05	1.909e-05	0.0007	0.0006	0.0009	4.477e-05	0	0	0	0	7.197e-06	0	1.161e-05	0.0002	0.0002	0.0002	8.074e-05	0.0005	0.0001	8.729e-05	0.0003	0.0003	0.0005	0	0	0	0.0002	0	0	0	0	0.0002	0.001	0.78490	D	0.01	0.65728	D	1.0	0.90584	D	0.877	0.62241	P	0.000917	0.41128	D	0.155264	0.914517	0.81001	D	2.52	0.73523	M	-0.02	0.68474	T	-2.11	0.48020	N	0.317	0.36148	-0.1423	0.79108	T	0.407	0.75692	T	10	0.08238217	0.13590	T	0.099117	0.77055	D	0.243	0.54921	.	.	0.86608176546	0.86478	0.5147325280895364	0.51396	0.0133904734343	0.01285	0.322573423386	0.13810	T	0.265605	0.64185	T	-0.250791	0.14000	T	-0.189368	0.55649	T	0.19888277296265	0.20354	T	0.767123	0.39533	T	0.17932563	0.38998	0.09769691	0.23264	0.17932563	0.38997	0.09769691	0.23264	-7.212	0.55568	T	.	.	0.132	0.34227	B	.;.;.	.;.;.	3.289760	0.45108	22.1	0.99918293401930702	0.98586	0.27668	0.23342	N	AEFBI	0.175721	0.30291	N	0.275265146663158	0.54898	3.65445	0.177391980784606	0.48609	3.074689	0.00620444183217637	0.11156	0.744818	0.98587	0	0.573888	0.26702	0	0.573888	0.23631	0	0.76194	0.99817	0	.	.	5.2	4.35	0.51454	0.864000	0.27581	2.363000	0.32383	0.599000	0.40250	0.131000	0.23362	0.998000	0.33993	0.531000	0.29730	0.2792:0.7208:0.0:0.0	13.718	0.62194	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1641.43	36	chr4	89935826	.	C	T	1641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=500;ExcessHet=0;FS=1.489;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=0.295;SOR=0.563	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1653,0,1410	9	0	1	0
chr4	89953020	89953020	T	C	exonic	MMRN1	.	nonsynonymous SNV	MMRN1:NM_007351:exon8:c.T3289C:p.Y1097H,MMRN1:NM_001371403:exon9:c.T3289C:p.Y1097H	.	433	1086	3	0	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0400902348327	7.7e-05	0.000399361	0.0001	9.844e-05	0	0	0	0.0001	0	0.0003	0.0001035	16	154602	rs199716183	7.624e-05	7.661e-05	6.145e-05	9.12e-05	0.0014	6.449e-05	6.028e-05	0.0007	0.0005	9.044e-05	2.272e-05	0.0004	0	0	0.0014	3.606e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0006	9.736e-05	8.251e-05	0.0002	9.003e-05	0.0002	0	0.0002	0.0003	0	0	0.0034	7.351e-05	0	0.0006	0.031	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.000000	0.972161	0.38925	D	1.39	0.34934	L	0.11	0.66474	T	-0.69	0.27259	N	0.656	0.71321	-0.2831	0.75456	T	0.388	0.74305	T	10	0.194527	0.35267	T	0.04009	0.59179	D	0.349	0.67049	.	.	0.710252556725	0.70772	0.4291670179428041	0.42833	0.0868715534287	0.09797	0.732777237892	0.71913	T	0.115045	0.45217	T	-0.0785767	0.39944	T	-0.0306368	0.68326	D	0.0925420665866641	0.11516	T	0.872513	0.57956	D	0.10982175	0.25962	0.105853744	0.25455	0.10982175	0.25962	0.105853744	0.25454	-3.366	0.14602	T	.	.	0.734	0.78581	P	.;.;.	.;.;.	4.528004	0.71055	25.6	0.99857060259026864	0.93548	0.92722	0.56386	D	AEFBI	0.698648	0.65625	D	0.525458370543049	0.68600	5.239589	0.488205813613256	0.67208	5.053234	0.947861424996864	0.27773	0.706548	0.73137	0	0.588015	0.36545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	4.53	4.53	0.55009	5.028000	0.63895	7.265000	0.57972	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	13.122	0.58750	871	0.31377	C1q domain|C1q domain;C1q domain|C1q domain;C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	896.43	37	chr4	89953020	.	T	C	896.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.876;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=2.43;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr4	94662433	94662433	C	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon11:c.C622G:p.L208V,PDLIM5:NM_001256428:exon11:c.C1231G:p.L411V,PDLIM5:NM_001011513:exon12:c.C1270G:p.L424V,PDLIM5:NM_006457:exon12:c.C1597G:p.L533V,PDLIM5:NM_001256427:exon13:c.C1288G:p.L430V,PDLIM5:NM_001256426:exon16:c.C1684G:p.L562V	.	424	1090	8	0	0	8	0.00365631	.	.	.	2679121	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.610	0.0943881906345	.	0.000199681	6.593e-05	9.61e-05	0	0	0	5.997e-05	0	0.0002	6.47e-05	10	154602	rs114255444	7.619e-05	7.257e-05	7.499e-05	7.738e-05	0.0032	6.404e-05	5.984e-05	0.0021	0.0017	0.0002	6.726e-05	0	0	0	0.0032	4.493e-05	0.0003	0.0002	4.599e-05	4.594e-05	5.14e-05	4.032e-05	0.0001	2.109e-05	1.527e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0	0.002	0.72154	D	0.037	0.74150	D	0.948	0.67487	P	0.812	0.67560	P	0.000041	0.55875	D	0.077207	1	0.81001	D	2.765	0.80766	M	-2.39	0.88377	D	-2.07	0.50012	N	0.654	0.67564	0.650	0.92549	D	0.785	0.92708	D	10	0.5017696	0.61590	D	0.094388	0.76243	D	0.610	0.84719	.	.	0.928294165333	0.92756	0.5240608340404989	0.52330	0.530212423702	0.50563	0.565879702568	0.48096	T	0.083596	0.86098	T	0.0178459	0.54090	T	0.047537	0.73421	D	0.499638348817825	0.32616	T	0.970103	0.90356	D	0.4697714	0.65276	0.42369685	0.66232	0.4697714	0.65276	0.42369685	0.66232	-11.3	0.81278	D	.	.	0.313	0.58611	B	.;.;.;.;.;.	.;.;.;.;.;.	4.670575	0.74647	26.2	0.99812836718519138	0.89620	0.96118	0.67615	D	AEFGBI	0.632619	0.61316	D	0.692393778031861	0.79133	7.01398	0.663576961320819	0.79625	7.122133	0.999999948087747	0.74766	0.706298	0.61202	0	0.53679	0.11191	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.85	4.96	0.65153	2.034000	0.40767	5.839000	0.50231	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.971000	0.54645	0.1463:0.7817:0.0:0.072	9.230	0.36596	872	0.31118	Zinc finger, LIM-type|Zinc finger, LIM-type;.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1264.43	41	chr4	94662433	.	C	G	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.395;DP=444;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.937;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr4	94664051	94664051	A	G	exonic	PDLIM5	.	nonsynonymous SNV	PDLIM5:NM_001256425:exon12:c.A800G:p.H267R,PDLIM5:NM_001256428:exon12:c.A1409G:p.H470R,PDLIM5:NM_001011513:exon13:c.A1448G:p.H483R,PDLIM5:NM_006457:exon13:c.A1775G:p.H592R,PDLIM5:NM_001256426:exon17:c.A1862G:p.H621R	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	.	0.0074	0.00399361	0.0079	0.0018	0.0026	0.0001	0.0230	0.0099	0.0077	0.0052	0.0077295	1195	154602	rs76352571	0.0098	0.0098	0.0097	0.0099	0.0107	0.0097	0.0096	0.0106	0.0105	0.0011	0.0022	0.0008	0	0.0230	0.0012	0.0107	0.0086	0.0054	0.0076	0.0076	0.0073	0.0079	0.0114	0.0072	0.0071	0.0107	0.0105	0.0016	0	0.0020	0.0006	0.0006	0.0230	0.0034	0.0114	0.0061	0.0039	0.007	0.59928	D	0.014	0.92824	D	0.992	0.90584	D	0.989	0.97372	D	0.000005	0.62929	D	0.105778	1	0.81001	D	0.1	0.08449	N	0.65	0.58029	T	-5.47	0.89152	D	0.608	0.69037	-0.6314	0.63511	T	0.213	0.57388	T	10	0.00881511	0.00200	T	.	.	.	0.446	0.74797	.	.	0.836370529571	0.83480	0.6732097579457009	0.67258	0.5818623181	0.53964	0.7609770298	0.76073	T	0.083552	0.87510	T	-0.339443	0.05426	T	-0.249332	0.49882	T	0.0225501479514637	0.00971	T	0.940606	0.77652	D	0.6682194	0.76337	0.6900932	0.81766	0.6682194	0.76339	0.6900932	0.81767	-10.267	0.75957	D	.	.	0.351	0.79163	A	.;.;.;.;.	.;.;.;.;.	4.724063	0.76021	26.4	0.9981425809924922	0.89797	0.99372	0.95168	D	AEFBI	.	.	.	0.744661387980843	0.82558	7.792073	0.752460654985872	0.86340	8.857948	0.999999999999896	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.78	5.78	0.91418	7.342000	0.78550	11.221000	0.89777	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.103	0.81002	872	0.31118	Zinc finger, LIM-type;.;Zinc finger, LIM-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	526.43	33	chr4	94664051	.	A	G	526.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.111;DP=384;ExcessHet=0;FS=2.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-1.866;SOR=0.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1038:.	9	0	1	0
chr4	95131343	95131343	A	C	exonic	BMPR1B	.	nonsynonymous SNV	BMPR1B:NM_001256792:exon8:c.A907C:p.K303Q,BMPR1B:NM_001256793:exon8:c.A997C:p.K333Q,BMPR1B:NM_001256794:exon8:c.A907C:p.K303Q,BMPR1B:NM_001203:exon10:c.A907C:p.K303Q	Acromesomelic dysplasia, Demirhan type, Autosomal recessive;Brachydactyly, type A1, D, Autosomal dominant;Brachydactyly, type A2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1376154	Type_A2_brachydactyly|Acromesomelic_dysplasia_3	Human_Phenotype_Ontology:HP:0009372,MONDO:MONDO:0007216,MedGen:C1832702,OMIM:112600,Orphanet:93396|MONDO:MONDO:0012274,MedGen:C4225404,OMIM:609441	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.0192395095665	7.7e-05	.	1.65e-05	0	8.718e-05	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs370428276	9.577e-06	9.577e-06	1.089e-05	8.251e-06	2.238e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	2.238e-05	0	0	0	0	9.892e-06	3.312e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.062	0.37326	T	0.188	0.36365	T	0.031	0.20130	B	0.046	0.24676	B	0.000023	0.55875	D	0.155411	0.999931	0.51612	D	0.585	0.15399	N	-0.25	0.67011	T	-1.73	0.41428	N	0.528	0.55713	-0.7886	0.55811	T	0.225	0.58970	T	10	0.26701647	0.44210	T	0.01924	0.41549	T	0.141	0.37795	.	.	0.507503701284	0.50389	0.598408955270661	0.59771	0.120582729042	0.13580	0.666827082634	0.62385	T	0.530854	0.83763	D	-0.104548	0.35671	T	-0.280296	0.46774	T	0.239438027143478	0.22393	T	0.940906	0.77861	D	0.53165466	0.68925	0.42066032	0.66022	0.53165466	0.68926	0.42066032	0.66022	-6.252	0.48485	T	.	.	0.096	0.15385	B	.;.;.;.;.	.;.;.;.;.	3.693859	0.52643	23.3	0.99125268097376951	0.53116	0.90203	0.51196	D	AEFBI	0.321075	0.42399	N	0.0375268748538349	0.43569	2.647309	0.240221320156252	0.52094	3.386741	0.999997568801636	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	6.06	6.06	0.98340	3.451000	0.52727	11.271000	0.91406	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.609	0.84711	565	0.70868	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2243.43	34	chr4	95131343	.	A	C	2243.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.69;DP=517;ExcessHet=0;FS=3.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.31;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	9	0	1	0
chr4	95841007	95841007	G	C	exonic	PDHA2	.	nonsynonymous SNV	PDHA2:NM_005390:exon1:c.G857C:p.R286P	.	259	1180	76	7	0	90	0.0367347	.	.	.	2736164	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.837	.	0.0072	0.00479233	0.0091	0.0013	0.0039	0	0.0018	0.0103	0.0122	0.0205	0.0087644	1355	154602	rs147966234	0.0089	0.0089	0.0083	0.0094	0.0291	0.0088	0.0087	0.0255	0.0242	0.0015	0.0043	0.0293	2.519e-05	0.0026	0.0291	0.0083	0.0102	0.0217	0.0065	0.0065	0.0064	0.0066	0.0207	0.0061	0.0060	0.0174	0.0162	0.0013	0.0022	0.0059	0.0254	0.0002	0.0015	0.0272	0.0090	0.0085	0.0207	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.415	0.98701	H	-6.13	0.99538	D	-6.77	0.92782	D	0.682	0.68863	0.850	0.95025	D	0.988	0.99644	D	10	0.019148856	0.00424	T	.	.	.	0.837	0.94877	.	.	0.992494906561	0.99240	0.9509457850072159	0.95078	0.758613918606	0.64132	0.350653082132	0.18018	T	0.90863	0.98262	D	-0.0689159	0.41501	T	0.144487	0.79834	D	0.171731782637727	0.18697	T	0.972603	0.90144	D	0.97855526	0.98997	0.94133365	0.97855	0.97077864	0.98332	0.94133365	0.97855	-14.866	0.95531	D	0.8323588741810592	0.90287	0.984	0.91951	P	.	.	4.374370	0.67375	25.1	0.99635093215139092	0.76264	0.91787	0.54262	D	AEFI	0.551425	0.56350	D	0.704312212544012	0.79916	7.179797	0.518303780275318	0.69223	5.329706	0.00490781993713498	0.10757	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.91	3.17	0.35510	3.625000	0.53979	7.265000	0.57972	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0835:0.1496:0.7669:0.0	8.906	0.34685	875	0.30485	Dehydrogenase, E1 component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.010101	0.004076	0.038012	0.050000	0.025862	0.024390	0.022727	0.05	2195.43	34	chr4	95841007	.	G	C	2195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.7;DP=500;ExcessHet=0;FS=11.501;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.588;SOR=1.279	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1203	9	0	1	0
chr4	99307859	99307859	C	T	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon9:c.G1109A:p.R370H,ADH1B:NM_001286650:exon10:c.G989A:p.R330H	.	418	1078	25	1	0	27	0.0123683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0231445045486	0.0041	0.00259585	0.0032	0.0037	0.0015	0.0007	0.0002	0.0037	0.0077	0.0042	0.0029624	458	154602	rs75967634	0.0031	0.0031	0.0029	0.0033	0.0049	0.0030	0.0030	0.0045	0.0043	0.0032	0.0011	0.0011	0.0006	0.0006	0.0049	0.0033	0.0026	0.0048	0.0032	0.0032	0.0033	0.0032	0.0044	0.0030	0.0029	0.0038	0.0036	0.0034	0.0033	0.0012	0.0006	0.0008	0.0010	0	0.0042	0.0024	0.0044	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.000034	0.55875	D	0.068332	1	0.81001	D	.	.	.	3.38	0.05778	T	-4.29	0.76414	D	0.362	0.69825	-0.9198	0.45581	T	0.063	0.26314	T	10	0.014936537	0.00314	T	0.023145	0.46094	T	0.218	0.51265	.	.	0.491248951702	0.48758	0.7890051812966327	0.78852	0.783653125193	0.65405	0.413478672504	0.26938	T	0.09467	0.39463	T	-0.408097	0.02047	T	-0.358987	0.38171	T	0.102206649897578	0.12598	T	0.89971	0.64861	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.75992	P	.;.;.;.	.;.;.;.	4.038986	0.59786	24.1	0.99854316575898061	0.93368	0.95068	0.63321	D	AEFI	0.877816	0.80268	D	0.423228588699053	0.62703	4.490509	0.189106407762688	0.49249	3.130397	0.00271159252284801	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.824000	0.62391	2.694000	0.34110	0.520000	0.23804	1.000000	0.71638	0.993000	0.31925	0.045000	0.14751	0.0:1.0:0.0:0.0	10.315	0.42911	622	0.65860	Polyketide synthase, enoylreductase domain;.;.;Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004757	0.000000	0.001359	0.012295	0.050000	0.000000	0.006098	0.003788	0.05	3670.43	36	chr4	99307859	.	C	T	3670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.063;DP=629;ExcessHet=0;FS=1.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.752;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1395	9	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1544.91	130	chr4	99318097	.	C	G	1544.91	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.498;DP=1449;ExcessHet=10.3881;FS=281.803;InbreedingCoeff=-0.6704;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=1.5;ReadPosRankSum=-0.079;SOR=11.983	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1313	2	0	8	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1384.73	96	chr4	99347057	.	C	G	1384.73	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.852;DP=1202;ExcessHet=4.5998;FS=272.732;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=-0.703;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:81,0:81:65:.:.:0,65,1732:.	3	0	6	1
chr4	99581989	99581989	G	A	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon2:c.G227A:p.G76E,MTTP:NM_000253:exon3:c.G146A:p.G49E	Abetalipoproteinemia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	829544	not_provided|Abetalipoproteinaemia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.01085904832	0.0005	0.000599042	9.061e-05	0.0010	8.642e-05	0	0	0	0	0	9.06e-05	14	154602	rs145545828	4.515e-05	4.515e-05	5.309e-05	3.713e-05	0.0013	3.641e-05	3.321e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0	3.597e-06	0.0001	4.637e-05	0.0003	0.0003	0.0003	0.0004	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	0	0	0	0.048	0.40068	D	0.132	0.43721	T	0.004	0.12183	B	0.007	0.12992	B	0.000010	0.62929	N	0.147383	0.985308	0.40265	D	1.67	0.42885	L	3.57	0.04645	T	-2.31	0.70920	N	0.192	0.23125	-0.9482	0.41279	T	0.006	0.02131	T	10	0.020805508	0.00486	T	0.010859	0.27874	T	0.076	0.22200	.	.	0.33835085245	0.33439	0.4448716571261399	0.44405	0.311117015256	0.33418	0.358237862587	0.19129	T	0.059939	0.52198	T	-0.506454	0.00526	T	-0.559455	0.16428	T	0.032962690471649	0.02465	T	0.70353	0.32156	T	0.0972269	0.22915	0.09675323	0.23003	0.0972269	0.22915	0.09675323	0.23002	-2.996	0.18553	T	0.4371825820765559	0.52332	0.104	0.18869	B	.;.;.;.;.	.;.;.;.;.	2.385338	0.30625	18.49	0.84410260618038069	0.15275	0.72497	0.35482	D	AEFGBI	0.623051	0.60714	D	-0.739251060229235	0.14927	0.7478086	-0.603350771892026	0.19406	1.041057	0.0110967979772414	0.12130	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.76	1.21	0.20240	2.980000	0.49011	3.260000	0.37085	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.3212:0.1172:0.5617:0.0	7.342	0.25817	933	0.16026	Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1380.43	33	chr4	99581989	.	G	A	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.787;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.442;SOR=0.69	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr4	100188008	100188008	A	C	exonic	DDIT4L	.	nonsynonymous SNV	DDIT4L:NM_145244:exon3:c.T251G:p.L84R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.0630077477074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	0	8.251e-06	3.478e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999988	0.54805	D	3.03	0.86425	M	-0.14	0.65006	T	-5.7	0.87380	D	0.961	0.97095	-0.0173	0.81894	T	0.455	0.78767	T	10	0.9752732	0.97270	D	0.063008	0.68834	D	0.803	0.93582	0.928	0.98837	0.813559840145	0.81180	0.8903778008941422	0.89007	0.255190819424	0.28107	0.687678456306	0.65372	T	0.41923	0.77132	T	0.360591	0.87299	D	0.280187	0.87134	D	0.998958706855774	0.95694	D	0.846715	0.52677	T	0.93715274	0.94958	0.93433136	0.97390	0.93715274	0.94958	0.93433136	0.97391	-4.425	0.29894	T	.	.	0.927	0.88466	P	.;.;.	.;.;.	4.685936	0.75034	26.3	0.99780696413864756	0.86780	0.97336	0.74107	D	AEFDBI	0.883507	0.81248	D	0.836884114925841	0.88347	9.545	0.804222468210533	0.90084	10.24981	0.999999966432299	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	7.488000	0.80254	10.877000	0.84036	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.852	0.69943	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2472.43	44	chr4	100188008	.	A	C	2472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.168;DP=479;ExcessHet=0;FS=3.106;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.02;ReadPosRankSum=0.036;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr4	101196010	101196010	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G165C:p.R55S,PPP3CA:NM_001130691:exon2:c.G165C:p.R55S,PPP3CA:NM_001130692:exon2:c.G165C:p.R55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.542	0.353534218001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.017	0.83351	D	0.998	0.73220	D	0.966	0.71341	D	0.000004	0.62929	D	0.056881	0.999911	0.81001	D	3.325	0.90780	M	3.38	0.70365	T	-3.07	0.88065	D	0.939	0.94550	0.145	0.84969	D	0.589	0.85259	D	10	0.5369051	0.63499	D	0.353534	0.92331	D	0.542	0.80901	0.434	0.48500	0.966502697184	0.96614	0.9224824476460386	0.92225	2.40020819914	0.97175	0.78887450695	0.80271	T	0.798026	0.94820	D	0.316579	0.84226	D	0.216967	0.84021	D	0.9861741065979	0.76962	D	0.997517	0.98983	D	0.96387434	0.97668	0.8698088	0.92852	0.96387434	0.97668	0.8698088	0.92853	-3.337	0.99288	T	0.927214547401517	0.96958	0.982	0.97319	P	.;.;.;.;.;.	.;.;.;.;.;.	2.607304	0.33856	19.46	0.98219283723808459	0.39281	0.55150	0.29792	D	AEFBI	0.165597	0.29210	N	0.14515803016552	0.48582	3.068794	0.0200804544599741	0.40649	2.429266	0.99974081000684	0.42466	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.0	0.25495	-0.541000	0.06187	0.576000	0.19656	-0.172000	0.11096	0.180000	0.24064	0.998000	0.33993	0.994000	0.71098	0.0:0.5748:0.0:0.4252	10.653	0.44850	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	222.23	130	chr4	101196010	.	C	G	222.23	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.803;DP=729;ExcessHet=0;FS=97.693;InbreedingCoeff=-0.1355;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.22;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1268:.	7	0	1	2
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T,PPP3CA:NM_001130691:exon2:c.G164C:p.R55T,PPP3CA:NM_001130692:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	558.94	158	chr4	101196011	.	C	G	558.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.583;DP=1017;ExcessHet=0.7463;FS=218.697;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=2.31;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:70,0:70:0:.:.:0,0,1293:.	1	0	3	6
chr4	101196014	101196014	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G161C:p.G54A,PPP3CA:NM_001130691:exon2:c.G161C:p.G54A,PPP3CA:NM_001130692:exon2:c.G161C:p.G54A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.220056467062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000059	0.53742	D	0.123284	0.994882	0.81001	D	3.34	0.90961	M	3.37	0.68892	T	-2.09	0.88361	N	0.798	0.80180	0.428	0.89507	D	0.620	0.86597	D	10	0.75291437	0.75769	D	0.220056	0.87738	D	0.463	0.75956	0.358	0.36060	0.834175772026	0.83260	0.8658886325976967	0.86553	2.36483911237	0.96871	0.828539609909	0.86339	D	0.816308	0.95461	D	0.238618	0.77530	D	0.104982	0.77238	D	0.981502890586853	0.73950	D	0.999309	0.99724	D	0.9314765	0.94384	0.84041	0.90865	0.9314765	0.94385	0.84041	0.90866	-3.176	0.89072	T	0.9695120588448441	0.99051	0.942	0.90700	P	.;.;.;.;.;.	.;.;.;.;.;.	4.285101	0.65301	24.8	0.99598018212957651	0.74042	0.98495	0.83383	D	AEFBI	0.904142	0.85408	D	1.01799716435819	0.96272	14.49784	0.950030514374969	0.97406	16.074	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	211.43	145	chr4	101196014	.	C	G	211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.781;DP=1059;ExcessHet=0;FS=96.911;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=2.5;SOR=5.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	9	0	1	0
chr4	101196015	101196015	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G160C:p.G54R,PPP3CA:NM_001130691:exon2:c.G160C:p.G54R,PPP3CA:NM_001130692:exon2:c.G160C:p.G54R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.546	0.311424803661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000059	0.53742	D	0.123284	0.998229	0.81001	D	3.34	0.90961	M	3.36	0.69287	T	-3.81	0.95842	D	0.816	0.81261	0.428	0.89507	D	0.620	0.86597	D	10	0.8392846	0.83082	D	0.311425	0.91197	D	0.546	0.81135	0.377	0.39156	0.8575125375	0.85613	0.9159854388386633	0.91573	2.47311793574	0.97507	0.874480307102	0.93203	D	0.801841	0.94956	D	0.387858	0.89198	D	0.319355	0.89062	D	0.995761930942535	0.88027	D	0.999394	0.99801	D	0.9461721	0.95876	0.856816	0.91963	0.9461721	0.95876	0.856816	0.91963	-3.186	0.92607	T	0.8000097979291737	0.87694	0.993	0.98907	P	.;.;.;.;.;.	.;.;.;.;.;.	4.568295	0.72054	25.8	0.99886416990084914	0.96126	0.98495	0.83383	D	AEFBI	0.918562	0.88780	D	1.01926601861206	0.96308	14.53905	0.951211567613319	0.97440	16.13271	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	262.72	108	chr4	101196015	.	C	G	262.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.855;DP=929;ExcessHet=0.2348;FS=268.399;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=2.5;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	6	0	2	2
chr4	101196016	101196016	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G159C:p.E53D,PPP3CA:NM_001130691:exon2:c.G159C:p.E53D,PPP3CA:NM_001130692:exon2:c.G159C:p.E53D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.116487356064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.099	0.76473	T	0.999	0.77913	D	0.983	0.77487	D	0.000010	0.62929	D	0.063490	0.999785	0.81001	D	3.33	0.90841	M	3.34	0.68030	T	-0.56	0.60982	N	0.68	0.68690	0.033	0.82908	D	0.539	0.82965	D	10	0.32277888	0.49624	T	0.116487	0.79598	D	0.350	0.67142	0.33	0.31519	0.773359322219	0.77127	0.8378449950538576	0.83744	1.27153484112	0.82284	0.813342690468	0.84005	D	0.717944	0.92006	D	0.0589917	0.59486	T	-0.153039	0.58973	T	0.946301698684692	0.62442	D	0.997538	0.98994	D	0.8979212	0.91197	0.65002483	0.79525	0.8979212	0.91198	0.65002483	0.79526	-4.126	0.86258	T	0.8950661470831041	0.94845	0.943	0.95244	P	.;.;.;.;.;.	.;.;.;.;.;.	2.683555	0.35009	19.78	0.9972510742553008	0.82336	0.88357	0.48248	D	AEFBI	0.391531	0.46994	N	0.294411657883077	0.55866	3.750601	0.193394592815693	0.49485	3.151024	0.999851423398159	0.44174	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	2.03	0.25714	0.074000	0.14525	0.415000	0.18155	-0.182000	0.10109	0.941000	0.32681	0.994000	0.32194	0.993000	0.69303	0.0:0.6313:0.0:0.3687	9.685	0.39256	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	249.14	49	chr4	101196016	.	C	G	249.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.047;DP=676;ExcessHet=0.2348;FS=258.629;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.5;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	8	0	2	0
chr4	102911453	102911453	C	T	exonic	SLC9B1	.	nonsynonymous SNV	SLC9B1:NM_001100874:exon8:c.G914A:p.R305Q,SLC9B1:NM_139173:exon8:c.G914A:p.R305Q	.	602	909	8	3	0	14	0.00764192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0017218355093	.	.	0.0017	0.0021	0.0019	0.0026	0.0003	0.0017	0	0.0011	0.0022639	350	154602	rs200795458	9.344e-05	0.0016	9.162e-05	9.527e-05	0.0005	8.043e-05	7.507e-05	0.0003	0.0003	6.046e-05	0.0002	0.0005	2.542e-05	5.164e-05	0.0005	4.524e-05	0.0003	0.0004	0.0002	0.0033	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0005	0	0.0006	0.0002	0	0.0002	0.0015	0.0002	0.575	0.06106	T	0.558	0.15157	T	0.041	0.24734	B	0.024	0.20255	B	0.715366	0.09980	N	0.875838	1	0.08975	N	0.28	0.10031	N	2.46	0.17113	T	-0.09	0.12847	N	0.211	0.23506	-0.9640	0.38409	T	0.020	0.08453	T	10	0.014503986	0.00305	T	0.001722	0.02882	T	0.071	0.20720	.	.	0.0297737177859	0.01360	0.18350414327736794	0.18269	0.262470570892	0.28810	0.189090907574	0.00209	T	0.006554	0.05980	T	-0.367994	0.03697	T	-0.766375	0.02889	T	0.00297670112536826	0.00031	T	0.686031	0.34984	T	0.03126998	0.02936	0.06744009	0.13950	0.03126998	0.02936	0.06744009	0.13950	-3.1	0.12926	T	.	.	0.077	0.12037	B	.;.;.;.	.;.;.;.	0.098538	0.05004	1.561	0.83262309187141059	0.14629	0.00628	0.02764	N	AEFI	0.057154	0.10625	N	-1.62095146133237	0.01164	0.05056828	-1.6387140425188	0.01435	0.06490251	6.1228187821526E-4	0.07460	0.533608	0.22052	0	0.588015	0.36545	0	0.573888	0.23631	0	0.638833	0.57524	0	.	.	4.36	-5.77	0.02176	-0.090000	0.11129	-1.642000	0.05002	-2.010000	0.00442	0.010000	0.18352	0.000000	0.08366	0.868000	0.41282	0.0:0.2279:0.0:0.7721	13.863	0.63071	907	0.22727	.;Cation/H+ exchanger;.;Cation/H+ exchanger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027284	0.098592	0.002747	0.017241	0.000000	0.052632	0.023256	0.048780	0.1	62.37	86	chr4	102911453	.	C	T	62.37	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.118;DP=571;ExcessHet=0.2348;FS=4.082;InbreedingCoeff=-0.1066;MLEAC=2;MLEAF=0.1;MQ=57;MQRankSum=-4.918;QD=0.37;ReadPosRankSum=2.92;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,985:.	8	0	2	0
chr4	102911463	102911463	A	T	exonic	SLC9B1	.	nonsynonymous SNV	SLC9B1:NM_001100874:exon8:c.T904A:p.F302I,SLC9B1:NM_139173:exon8:c.T904A:p.F302I	.	597	914	8	3	0	14	0.00760043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00216527770001	.	.	0.0014	0.0019	0.0016	0.0024	0.0002	0.0014	0	0.0009	0.0018758	290	154602	rs201651247	3.894e-05	0.0012	3.737e-05	4.053e-05	0.0002	3.075e-05	2.764e-05	0.0001	0.0001	0	0	3.858e-05	0	2.576e-05	0	3.249e-05	1.674e-05	0.0002	9.414e-05	0.0030	9.202e-05	9.636e-05	0.0002	5.652e-05	4.462e-05	4.851e-05	3.494e-05	2.47e-05	0	0.0001	0	0.0002	0.0002	0	0.0001	0.0005	0	0.407	0.10245	T	0.481	0.22154	T	0.004	0.12183	B	0.009	0.19048	B	0.394122	0.13214	N	0.710008	0.998532	0.22091	N	0.195	0.09149	N	2.47	0.16089	T	-1.03	0.32185	N	0.22	0.24634	-1.0211	0.23357	T	0.014	0.05417	T	10	0.01368317	0.00289	T	0.002165	0.04043	T	0.072	0.21020	.	.	0.0482279557977	0.04254	0.4953390832176176	0.49454	0.314701398016	0.33750	0.377220779657	0.21861	T	0.011717	0.10413	T	-0.285367	0.10106	T	-0.647686	0.09117	T	0.015039780456133	0.00324	T	0.810219	0.47186	T	0.05518191	0.10690	0.03648809	0.03104	0.05518191	0.10690	0.03648809	0.03104	-6.484	0.50968	T	.	.	0.063	0.07985	B	.;.;.;.	.;.;.;.	0.016160	0.04396	1.140	0.88603861850188859	0.18108	0.02391	0.06784	N	AEI	0.053510	0.09647	N	-1.33454969589774	0.03288	0.1466112	-1.38600311532037	0.03400	0.1585423	0.546490273994975	0.21298	0.533608	0.22052	0	0.588015	0.36545	0	0.573888	0.23631	0	0.638833	0.57524	0	.	.	4.36	-8.73	0.00728	-0.483000	0.06616	-3.407000	0.02810	0.691000	0.84096	0.283000	0.25169	0.000000	0.08366	0.993000	0.69303	0.3528:0.122:0.0718:0.4534	2.690	0.04802	907	0.22727	.;Cation/H+ exchanger;.;Cation/H+ exchanger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024970	0.110294	0.002747	0.013043	0.000000	0.043860	0.023256	0.044355	0.05	47.43	39	chr4	102911463	.	A	T	47.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.302;DP=573;ExcessHet=0;FS=3.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.3;MQRankSum=-5.033;QD=0.56;ReadPosRankSum=-0.352;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,117,1125:.	9	0	1	0
chr4	103123040	103123040	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon41:c.C6611G:p.S2204C,CENPE:NM_001813:exon43:c.C6974G:p.S2325C	.	440	1031	46	5	0	56	0.02644	.	.	.	363639	CENPE-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	.	0.0053	0.00599042	0.0071	0.0009	0.0032	0	0.0008	0.0070	0.0165	0.0202	0.0067658	1046	154602	rs61751592	0.0069	0.0069	0.0062	0.0075	0.0205	0.0067	0.0067	0.0197	0.0194	0.0011	0.0030	0.0191	5.043e-05	0.0007	0.0146	0.0063	0.0080	0.0205	0.0055	0.0055	0.0057	0.0054	0.0185	0.0052	0.0051	0.0154	0.0142	0.0011	0	0.0055	0.0245	0.0002	0.0006	0.0171	0.0074	0.0095	0.0185	0.289	0.25457	T	0.229	0.25210	T	0.0	0.07471	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.06	0.04898	N	-0.0	0.62762	T	2.46	0.00478	N	0.214	0.24010	-1.0353	0.18762	T	0.078	0.31012	T	9	0.0037833452	0.00071	T	.	.	.	0.066	0.19193	.	.	0.27715347029	0.27323	0.10530451158643887	0.10460	0.0379199756883	0.04027	0.339432835579	0.16352	T	0.029523	0.21136	T	-0.521914	0.00429	T	-0.506213	0.21705	T	0.00245141748632163	0.00025	T	0.589341	0.22547	T	0.03519231	0.04095	0.044902492	0.05921	0.036797013	0.04597	0.05709746	0.10320	-4.187	0.26563	T	.	.	0.091	0.16973	B	.;.;.	.;.;.	0.848608	0.12204	8.752	0.96871932267467953	0.31423	0.01065	0.03951	N	AEFBI	0.035227	0.04498	N	-0.922340630374555	0.10321	0.4926205	-0.873426888120818	0.12725	0.6562592	0.00249431243295335	0.09478	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.71	1.88	0.24630	0.103000	0.15128	0.725000	0.21043	0.509000	0.23192	0.000000	0.06391	0.001000	0.17328	0.889000	0.42754	0.1106:0.4497:0.4397:0.0	6.601	0.21892	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016616	0.015152	0.006793	0.014620	0.100000	0.017241	0.015244	0.053030	0.1	2143.14	34	chr4	103123040	.	G	C	2143.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.59;DP=464;ExcessHet=0.2348;FS=2.538;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.186;SOR=0.916	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	8	0	2	0
chr4	103136326	103136326	G	C	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon38:c.C5974G:p.H1992D,CENPE:NM_001813:exon40:c.C6337G:p.H2113D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.028523647828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.06502	T	0.523	0.11041	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-0.12	0.68474	T	-0.21	0.14000	N	0.325	0.52563	-0.9663	0.37954	T	0.149	0.47593	T	9	0.09755194	0.17577	T	0.028524	0.51190	D	0.066	0.19193	0.191	0.10171	0.265735104816	0.26182	0.14524724556588528	0.14447	0.0473477167418	0.05163	0.345251023769	0.17220	T	0.037984	0.24677	T	-0.243331	0.14928	T	-0.587304	0.13901	T	0.0400324318825911	0.03696	T	0.483152	0.15946	T	0.050070364	0.08988	0.08277268	0.18916	0.050070364	0.08988	0.08277268	0.18916	-2.662	0.06989	T	.	.	0.075	0.35560	B	.;.;.	.;.;.	0.478960	0.08482	5.245	0.93954692053520583	0.24018	0.05386	0.11251	N	AEFBHCI	0.040395	0.06003	N	-1.14524887804146	0.05858	0.268178	-1.16791246311224	0.06452	0.3106326	0.992481738987351	0.32856	0.50712	0.20391	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635259	0.50027	0	.	.	5.26	-2.52	0.05978	-0.215000	0.09284	0.355000	0.17517	-0.172000	0.11096	0.000000	0.06391	0.001000	0.17328	0.967000	0.53440	0.1774:0.5688:0.2538:0.0	8.929	0.34820	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	764.43	53	chr4	103136326	.	G	C	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.793;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.973;SOR=0.732	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr4	103145116	103145116	T	G	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon31:c.A4716C:p.R1572S,CENPE:NM_001813:exon32:c.A4791C:p.R1597S	.	496	1024	1	1	0	3	0.0014627	.	.	.	428244	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.0047	0.00319489	0.0042	0.0011	0.0037	0	0.0011	0.0065	0.0011	0.0008	0.0042949	664	154602	rs61751594	0.0054	0.0054	0.0054	0.0054	0.0065	0.0053	0.0052	0.0064	0.0063	0.0008	0.0035	0.0026	5.048e-05	0.0009	0.0019	0.0065	0.0046	0.0008	0.0042	0.0042	0.0045	0.0039	0.0070	0.0040	0.0039	0.0065	0.0063	0.0013	0	0.0050	0.0023	0.0002	0.0008	0.0102	0.0070	0.0085	0	0.411	0.10115	T	0.094	0.39645	T	0.968	0.59353	D	0.655	0.55577	P	.	.	.	.	0.999999	0.08975	N	2.075	0.57047	M	-0.39	0.70133	T	-1.13	0.29114	N	0.129	0.12913	-0.8139	0.54312	T	0.192	0.54463	T	9	0.0038477182	0.00073	T	.	.	.	0.230	0.53062	0.13	0.03494	0.797680560102	0.79579	0.07355365648093938	0.07292	0.0425273998097	0.04582	0.274155676365	0.06690	T	0.050411	0.28586	T	-0.39824	0.02378	T	-0.340675	0.40267	T	0.0200367182582501	0.00704	T	0.60444	0.22695	T	0.052448664	0.09784	0.05287378	0.08797	0.083455764	0.19272	0.06080644	0.11639	-4.334	0.28651	T	0.3300402619742247	0.42807	0.251	0.49275	B	.;.;.	.;.;.	0.458822	0.08286	5.032	0.89292736420364571	0.18673	0.07829	0.13823	N	AEFBHCI	0.074405	0.14912	N	-0.92808812049102	0.10189	0.4857249	-1.12977914093483	0.07136	0.3459941	0.867737134070025	0.25352	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	4.19	-3.12	0.04959	-1.062000	0.03579	-3.637000	0.02640	-0.228000	0.07776	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.0:0.3624:0.0:0.6376	10.083	0.41572	911	0.21964	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	649.43	39	chr4	103145116	.	T	G	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.579;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.55;SOR=0.892	GT:AD:DP:GQ:PL	0/1:20,29:49:99:661,0,502	9	0	1	0
chr4	103161453	103161453	C	A	exonic	CENPE	.	nonsynonymous SNV	CENPE:NM_001286734:exon18:c.G1772T:p.S591I,CENPE:NM_001813:exon19:c.G1847T:p.S616I	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0199999303879	0.0002	.	1.66e-05	0	0	0	0	3.008e-05	0	0	1.94e-05	3	154602	rs144782566	4.063e-05	4.036e-05	3.342e-05	4.794e-05	0.0009	3.188e-05	2.915e-05	0.0004	0.0002	0	0	0	0	0	0.0009	3.454e-05	0.0001	8.942e-05	2.631e-05	2.627e-05	2.571e-05	2.694e-05	5.886e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.886e-05	0	0	0.003	0.68238	D	0.21	0.27235	T	0.008	0.14655	B	0.001	0.10090	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	0.5	0.67874	T	-0.77	0.40660	N	0.136	0.21969	-1.0122	0.26228	T	0.108	0.39075	T	9	0.043705106	0.03248	T	0.02	0.42500	T	0.063	0.18251	.	.	0.576539395642	0.57322	0.04023553371420526	0.03969	0.0431053341588	0.04645	0.346014976501	0.17333	T	0.037303	0.24427	T	-0.191963	0.21971	T	-0.377607	0.36003	T	0.0287682600764864	0.01803	T	0.525647	0.17968	T	0.1252473	0.29365	0.09330758	0.22033	0.1252473	0.29365	0.09330758	0.22032	-4.671	0.33051	T	0.2152650057572829	0.28938	0.084	0.12938	B	.;.;.;.	.;.;.;.	0.644785	0.10131	6.877	0.68445240213857128	0.08660	0.02491	0.06969	N	AEFBI	0.036820	0.04968	N	-1.45543978445712	0.02174	0.09572169	-1.53238438647964	0.02100	0.09605534	0.999798190606738	0.43153	0.706298	0.61202	0	0.724815	0.89359	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	5.32	-7.91	0.01031	-0.397000	0.07329	0.118000	0.14877	-0.341000	0.05685	0.000000	0.06391	0.489000	0.25143	0.333000	0.25271	0.2139:0.4803:0.1141:0.1916	4.205	0.09942	906	0.23090	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1206.43	35	chr4	103161453	.	C	A	1206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.159;DP=492;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-0.286;SOR=0.633	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1208	9	0	1	0
chr4	105667304	105667304	G	A	exonic	ARHGEF38	.	nonsynonymous SNV	ARHGEF38:NM_001242729:exon12:c.G1865A:p.S622N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0175769529595	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1010572176	7.227e-07	6.84e-07	1.427e-06	0	3.165e-05	0	0	.	.	3.165e-05	0	0	0	0	0	0	0	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	9.651e-05	8.14e-06	5.14e-06	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	0	0	0	0.86	0.02671	T	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.755	0.45626	L	2.88	0.10291	T	1.11	0.01213	N	0.325	0.36569	-1.0608	0.11557	T	0.076	0.30429	T	9	0.3373795	0.50861	T	0.017577	0.39335	T	0.240	0.54500	0.621	0.75576	0.314716216878	0.31082	0.3341853426452334	0.33331	0.260682108502	0.28632	0.534233272076	0.43631	T	0.003269	0.02677	T	-0.249006	0.14221	T	-0.595456	0.13196	T	0.836334228515625	0.49031	D	0.754325	0.37688	T	0.17490518	0.38320	0.22896437	0.47954	0.17490518	0.38320	0.22896437	0.47953	-4.766	0.34192	T	.	.	0.169	0.37198	B	.	.	3.515973	0.49260	22.7	0.98314130222591689	0.40173	0.98861	0.87830	D	AEFCI	0.929434	0.91517	D	0.702650811531425	0.79804	7.156177	0.721680655465789	0.84025	8.17844	0.999999998876583	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.113000	0.93637	9.891000	0.82274	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.916	0.97059	856	0.34373	SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2624.43	198	chr4	105667304	.	G	A	2624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=517;ExcessHet=0;FS=4.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.127;SOR=0.455	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1198	9	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	639.89	106	chr4	106925843	.	C	T	639.89	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.655;DP=1109;ExcessHet=7.0302;FS=156.498;InbreedingCoeff=-0.5348;MLEAC=7;MLEAF=0.35;MQ=59.99;MQRankSum=0;QD=0.65;ReadPosRankSum=1.63;SOR=10.97	GT:AD:DP:GQ:PL	0/1:135,34:169:15:15,0,2323	3	0	7	0
chr4	109684611	109684611	A	G	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon6:c.A781G:p.M261V	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0106443592674	0.0012	0.00159744	0.0009	0.0006	0.0013	0	0	0.0010	0	0.0008	0.0008279	128	154602	rs79405119	0.0008	0.0008	0.0007	0.0008	0.0018	0.0007	0.0007	0.0010	0.0008	0.0007	0.0011	0.0005	0	0.0001	0.0018	0.0008	0.0010	0.0008	0.0008	0.0008	0.0007	0.0008	0.0018	0.0006	0.0006	0.0012	0.0011	0.0005	0	0.0018	0.0014	0.0002	0	0	0.0008	0.0009	0.0008	0.005	0.63226	D	0.072	0.43344	T	0.859	0.47319	P	0.609	0.51053	P	0.000019	0.62929	N	0.187833	0.998717	0.45323	D	2.19	0.61577	M	1.43	0.32958	T	-3.11	0.63669	D	0.347	0.38848	-1.0618	0.11312	T	0.065	0.27017	T	10	0.011704028	0.00255	T	0.010644	0.27409	T	0.103	0.29403	.	.	0.455173453901	0.45141	0.7485670205813343	0.74802	0.118582671518	0.13357	0.423137962818	0.28268	T	0.022555	0.17371	T	-0.37082	0.03553	T	-0.355874	0.38531	T	0.0402197153895296	0.03731	T	0.680032	0.28847	T	0.4717879	0.65400	0.48925057	0.70447	0.4717879	0.65400	0.48925057	0.70448	-9.16	0.68721	D	.	.	0.111	0.21503	B	.	.	3.632068	0.51459	23.1	0.98747373813244066	0.45602	0.96388	0.68895	D	AEFBI	0.729070	0.67690	D	0.402176006907151	0.61542	4.356761	0.401422910756283	0.61652	4.368507	0.985384455933843	0.30878	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.57	4.4	0.52402	4.222000	0.58378	7.960000	0.76000	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.9283:0.0:0.0717:0.0	11.184	0.47871	906	0.23090	Calcium uniporter protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	2560.12	34	chr4	109684611	.	A	G	2560.12	.	AC=2;AF=0.1;AN=20;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.22;SOR=1.445	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1129	9	1	0	0
chr4	109734712	109734712	G	T	exonic	CFI	.	nonsynonymous SNV	CFI:NM_001375280:exon12:c.C1598A:p.S533Y,CFI:NM_001375279:exon13:c.C1619A:p.S540Y,CFI:NM_001375278:exon14:c.C1643A:p.S548Y	Complement factor I deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	35.66	4	chr4	109734712	.	G	T	35.66	.	AC=2;AF=0.125;AN=16;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;QD=17.83;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,33	7	1	0	2
chr4	109844087	109844087	C	T	exonic	RRH	.	nonsynonymous SNV	RRH:NM_006583:exon7:c.C904T:p.R302W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.0667515066112	.	.	4.944e-05	0	0.0003	0	0	1.499e-05	0	6.056e-05	3.88e-05	6	154602	rs201095132	2.266e-05	2.531e-05	2.188e-05	2.346e-05	0.0003	1.616e-05	1.422e-05	0.0002	0.0002	0	0.0003	0	2.523e-05	0	0	1.265e-05	0	4.644e-05	6.578e-05	6.568e-05	1.286e-05	0.0001	0.0006	3.52e-05	2.619e-05	0.0003	0.0002	2.416e-05	0	0.0006	0	0	0	0	0	0	0	0.074	0.34621	T	0.006	0.70582	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.28	0.64929	M	0.34	0.58176	T	-3.75	0.71157	D	0.925	0.92901	-0.4157	0.71529	T	0.311	0.68121	T	10	0.8565112	0.84850	D	0.066752	0.69967	D	0.575	0.82799	.	.	0.862871083107	0.86154	0.9615599888432588	0.96141	0.203320542894	0.22746	0.475182056427	0.35395	T	0.339873	0.70897	T	0.0377644	0.56752	T	0.126988	0.78694	D	0.621816592589026	0.37280	D	0.96937	0.88985	D	0.8715029	0.88981	0.7472881	0.85063	0.8715029	0.88982	0.7472881	0.85064	-9.947	0.73594	D	.	.	0.704	0.73136	P	.	.	4.898292	0.80482	27.3	0.99922629793175055	0.98852	0.88822	0.48937	D	AEFI	0.620839	0.60575	D	0.569217924360951	0.71259	5.623873	0.543941753891876	0.70977	5.585248	0.0132572775542174	0.12439	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.9	5.05	0.67566	1.679000	0.37213	4.050000	0.41500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.2749:0.725:0.0:0.0	14.039	0.64183	691	0.58815	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	934.43	124	chr4	109844087	.	C	T	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=0.165;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1120	9	0	1	0
chr4	110520215	110520215	G	C	exonic	ENPEP	.	nonsynonymous SNV	ENPEP:NM_001379611:exon10:c.G1576C:p.A526P,ENPEP:NM_001379612:exon10:c.G1576C:p.A526P,ENPEP:NM_001379613:exon10:c.G1576C:p.A526P,ENPEP:NM_001977:exon10:c.G1576C:p.A526P	.	.	.	.	.	.	.	.	0.9999	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0350676231291	0.0005	0.000199681	0.0002	9.656e-05	8.663e-05	0	0	0.0004	0.0011	0	0.0002199	34	154602	rs143234247	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0004	0.0004	2.988e-05	0	0.0033	0	0.0001	0	0.0004	0.0003	3.483e-05	0.0002	0.0002	0.0003	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	9.662e-05	0	6.558e-05	0.0017	0	9.493e-05	0	0.0003	0	0	0.166	0.23183	T	0.181	0.29346	T	0.999	0.77913	D	0.926	0.66095	D	0.005057	0.33144	U	0.113338	1	0.81001	D	3.94	0.96382	H	3.3	0.06368	T	-2.49	0.54217	N	0.42	0.45992	-0.8860	0.49273	T	0.099	0.36830	T	9	0.03955713	0.02456	T	0.035068	0.56099	D	0.359	0.67962	.	.	0.451692371253	0.44791	0.9053898121281115	0.90511	0.508552499449	0.49004	0.441184520721	0.30738	T	0.392613	0.75224	T	-0.0595725	0.42975	T	-0.0230243	0.68829	D	0.238579890347787	0.22353	T	0.906209	0.66975	D	0.88182545	0.89818	0.7381235	0.84521	0.88182545	0.89819	0.7381235	0.84522	-9.59	0.71418	D	.	.	0.807	0.77612	P	.	.	5.349891	0.89743	31	0.99724875007005986	0.82336	0.98086	0.79479	D	AEFBI	0.966211	0.98862	D	0.803373584663557	0.86318	8.846501	0.696055187578684	0.82077	7.679038	0.999999999981582	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.83	5.83	0.93059	5.219000	0.65094	11.865000	0.98423	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:0.0:1.0:0.0	19.710	0.96090	851	0.35303	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1783.43	123	chr4	110520215	.	G	C	1783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.526;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.704;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	9	0	1	0
chr4	112430694	112430694	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.A913G:p.K305E,ALPK1:NM_001102406:exon11:c.A1147G:p.K383E,ALPK1:NM_025144:exon11:c.A1147G:p.K383E	.	435	1063	24	0	0	24	0.0111628	.	.	.	2113218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	0.00449991429976	0.0010	0.00199681	0.0024	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0084	0.0023932	370	154602	rs147641444	0.0022	0.0022	0.0020	0.0024	0.0083	0.0022	0.0021	0.0078	0.0076	0.0002	0.0019	0.0029	2.519e-05	0.0001	0.0055	0.0019	0.0026	0.0083	0.0012	0.0012	0.0014	0.0011	0.0077	0.0011	0.0010	0.0057	0.0050	0.0003	0	0.0010	0.0046	0.0002	0	0.0034	0.0014	0.0019	0.0077	0.174	0.22660	T	0.762	0.05238	T	0.023	0.18885	B	0.01	0.14941	B	0.108754	0.02618	N	1.678220	1	0.08975	N	0.345	0.11182	N	4.25	0.02564	T	-0.27	0.12472	N	0.131	0.14338	-0.9445	0.41895	T	0.005	0.01506	T	10	0.0044231415	0.00090	T	0.004	0.11063	T	0.020	0.03691	.	.	0.148003135375	0.14442	.	.	0.134647161538	0.15172	0.21466101706	0.01025	T	0.00734	0.06752	T	-0.595399	0.00155	T	-0.621203	0.11091	T	0.00529022771776679	0.00057	T	0.776522	0.40874	T	0.16763307	0.37172	0.09509976	0.22539	0.2162774	0.44082	0.17180938	0.39390	-6.965	0.53778	T	0.2458817418636663	0.33302	0.112	0.21840	B	.;.;.	.;.;.	-0.796730	0.01113	0.051	0.71439283827121958	0.09629	0.10090	0.15691	N	AEFGBI	0.110451	0.21903	N	-1.45166443637729	0.02203	0.09704503	-1.55238449799688	0.01960	0.08946916	0.998452585156744	0.36996	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.615788	0.45269	1	.	.	5.72	-9.7	0.00436	-0.631000	0.05593	-0.742000	0.07615	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.2862:0.4148:0.2228:0.0763	4.626	0.11865	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.005848	0.000000	0.008621	0.012195	0.015152	0.05	1498.43	34	chr4	112430694	.	A	G	1498.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.35;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1142	9	0	1	0
chr4	112438645	112438645	T	C	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon12:c.T3116C:p.L1039P,ALPK1:NM_001102406:exon13:c.T3350C:p.L1117P,ALPK1:NM_025144:exon13:c.T3350C:p.L1117P	.	432	1083	5	2	0	9	0.00413793	0.8979	0.82	.	709131	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.429	.	0.0088	0.00359425	0.0073	0.0021	0.0038	0	0.0119	0.0108	0.0033	0.0004	0.0074837	1157	154602	rs35756863	0.0100	0.0100	0.0103	0.0097	0.0119	0.0099	0.0098	0.0117	0.0116	0.0015	0.0043	0.0026	2.52e-05	0.0111	0.0024	0.0119	0.0079	0.0005	0.0076	0.0076	0.0081	0.0071	0.0118	0.0072	0.0071	0.0111	0.0108	0.0026	0.0242	0.0073	0.0014	0.0002	0.0082	0.0136	0.0118	0.0076	0.0008	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.81	0.81869	M	2.36	0.16089	T	-2.46	0.53736	N	0.967	0.98065	-1.0999	0.04103	T	0.070	0.28445	T	10	0.014673233	0.00308	T	.	.	.	0.429	0.73590	.	.	0.54351673446	0.54005	.	.	0.598181219092	0.54992	0.659662127495	0.61361	T	0.144918	0.48178	T	-0.363675	0.03926	T	-0.284139	0.46379	T	0.0152199683013924	0.00334	T	0.865513	0.56452	D	0.80445546	0.84192	0.8646585	0.92498	0.8653628	0.88499	0.8646585	0.92499	-15.323	0.96564	D	0.8576460359881409	0.92203	0.982	0.91469	P	.;.;.	.;.;.	5.219620	0.87595	29.3	0.99914917463294939	0.98309	0.98625	0.84843	D	AEFBI	0.971011	0.99317	D	0.655612135686672	0.76734	6.541156	0.648756628216427	0.78519	6.892431	0.999856749232754	0.44174	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	7.584000	0.81862	7.477000	0.59216	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.361	0.74187	801	0.44448	.;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase;MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.002717	0.002924	0.000000	0.008621	0.003049	0.000000	0.05	1465.43	57	chr4	112438645	.	T	C	1465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.697;DP=539;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.111;SOR=0.71	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	9	0	1	0
chr4	112619459	112619459	C	A	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon6:c.G583T:p.V195F,ZGRF1:NM_018392:exon6:c.G583T:p.V195F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0940148483959	0.0002	.	6.617e-05	0.0002	0	0	0	6.01e-05	0	0.0001	5.82e-05	9	154602	rs141361995	7.194e-05	7.319e-05	7.359e-05	7.027e-05	9.318e-05	6.057e-05	5.604e-05	6.704e-05	6.204e-05	8.991e-05	2.253e-05	0	2.522e-05	1.873e-05	0	8.103e-05	1.658e-05	9.318e-05	6.575e-05	6.568e-05	0.0001	2.692e-05	0.0001	3.519e-05	2.618e-05	6.287e-05	4.303e-05	0.0001	0	0	0	0	0	0	5.881e-05	0	0	0.1	0.30515	T	0.024	0.56640	D	0.531	0.37720	P	0.176	0.35644	B	0.830009	0.09113	N	0.898755	1	0.08975	N	2.24	0.63355	M	-1.71	0.83157	D	-0.77	0.26422	N	0.305	0.34444	-0.6176	0.64088	T	0.392	0.74568	T	10	0.08926892	0.15449	T	0.094015	0.76177	D	0.101	0.28911	.	.	0.381239546501	0.37731	0.19837197178050633	0.19754	0.119457425379	0.13450	.	.	.	0.028046	0.20403	T	-0.233169	0.16233	T	-0.293272	0.45432	T	0.0200064294040203	0.00701	T	0.663534	0.27241	T	0.044526327	0.07133	0.057560965	0.10483	0.044526327	0.07132	0.057560965	0.10483	-3.864	0.22617	T	.	.	0.109	0.26232	B	.;.;.	.;.;.	1.114568	0.15000	11.50	0.95394333995462666	0.26837	0.03102	0.08033	N	AEFDBI	0.081585	0.16509	N	-0.657696645011569	0.17236	0.8852362	-0.824882498048091	0.13892	0.7231421	9.43012732456448E-5	0.04910	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	4.9	-1.63	0.07900	-0.089000	0.11146	-2.979000	0.03172	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.149000	0.20271	0.2285:0.284:0.4092:0.0784	4.515	0.11337	831	0.39019	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	899.43	35	chr4	112619459	.	C	A	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.28;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=-0.157;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	9	0	1	0
chr4	113359237	113359237	A	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001148:exon38:c.A10619T:p.D3540V	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.462259914487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.062	0.67890	T	.	.	.	.	.	.	0.000027	0.55875	D	0.000000	1	0.81001	D	2.695	0.78878	M	-0.54	0.96659	T	-3.67	0.78721	D	0.782	0.79696	1.002	0.97230	D	0.914	0.97143	D	10	0.8688038	0.86136	D	0.46226	0.94534	D	0.809	0.93816	.	.	0.922854576676	0.92206	0.6367119446344923	0.63605	0.529130831561	0.50476	0.558007717133	0.46987	T	0.599014	0.87121	D	0.512966	0.94658	D	0.499063	0.94579	D	0.995614886283875	0.87749	D	0.929807	0.74042	D	0.6037467	0.72892	0.62116885	0.77930	0.6037467	0.72893	0.62116885	0.77931	-4.304	0.28232	T	0.5409610368919867	0.61062	0.938	0.85713	P	.;.;.	.;.;.	4.621793	0.73395	26.0	0.99211268694320909	0.55594	0.97763	0.76955	D	AEFBCI	0.938290	0.93727	D	0.782056601508049	0.84970	8.439336	0.795764058993977	0.89497	9.999358	0.999999999963436	0.74766	0.706548	0.73137	0	0.61073	0.52368	0	0.724815	0.87919	0	0.584449	0.35598	0	.	.	5.86	5.86	0.93936	8.947000	0.92735	11.241000	0.90426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.265	0.82400	635	0.64580	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1182.43	40	chr4	113359237	.	A	T	1182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.512;DP=465;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=1.52;SOR=0.592	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr4	113365098	113365098	G	C	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2221C:p.E741Q,ANK2:NM_001354280:exon19:c.G2242C:p.E748Q,ANK2:NM_001354281:exon19:c.G2221C:p.E741Q,ANK2:NM_001354279:exon20:c.G2257C:p.E753Q,ANK2:NM_001354282:exon20:c.G2257C:p.E753Q,ANK2:NM_001354277:exon37:c.G4309C:p.E1437Q,ANK2:NM_001354260:exon38:c.G4408C:p.E1470Q,ANK2:NM_001354268:exon38:c.G4495C:p.E1499Q,ANK2:NM_001354271:exon38:c.G4408C:p.E1470Q,ANK2:NM_001354273:exon38:c.G4393C:p.E1465Q,ANK2:NM_001354274:exon38:c.G4459C:p.E1487Q,ANK2:NM_001354228:exon39:c.G4594C:p.E1532Q,ANK2:NM_001354245:exon39:c.G4531C:p.E1511Q,ANK2:NM_001354249:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354257:exon39:c.G4432C:p.E1478Q,ANK2:NM_001354258:exon39:c.G4594C:p.E1532Q,ANK2:NM_001354264:exon39:c.G4528C:p.E1510Q,ANK2:NM_001354266:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354267:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354269:exon39:c.G4480C:p.E1494Q,ANK2:NM_001354276:exon39:c.G4507C:p.E1503Q,ANK2:NM_001354236:exon40:c.G4591C:p.E1531Q,ANK2:NM_001354240:exon40:c.G4738C:p.E1580Q,ANK2:NM_001354253:exon40:c.G4468C:p.E1490Q,ANK2:NM_001354261:exon40:c.G4552C:p.E1518Q,ANK2:NM_001354262:exon40:c.G4531C:p.E1511Q,ANK2:NM_001354270:exon40:c.G4468C:p.E1490Q,ANK2:NM_001354275:exon40:c.G4531C:p.E1511Q,ANK2:NM_020977:exon40:c.G4693C:p.E1565Q,ANK2:NM_001148:exon41:c.G10948C:p.E3650Q,ANK2:NM_001354225:exon41:c.G4705C:p.E1569Q,ANK2:NM_001354230:exon41:c.G4672C:p.E1558Q,ANK2:NM_001354231:exon41:c.G4735C:p.E1579Q,ANK2:NM_001354232:exon41:c.G4729C:p.E1577Q,ANK2:NM_001354235:exon41:c.G4690C:p.E1564Q,ANK2:NM_001354241:exon41:c.G4738C:p.E1580Q,ANK2:NM_001354242:exon41:c.G4735C:p.E1579Q,ANK2:NM_001354243:exon41:c.G4630C:p.E1544Q,ANK2:NM_001354246:exon41:c.G4690C:p.E1564Q,ANK2:NM_001354255:exon41:c.G4630C:p.E1544Q,ANK2:NM_001354265:exon41:c.G4690C:p.E1564Q,ANK2:NM_001127493:exon42:c.G4666C:p.E1556Q,ANK2:NM_001354237:exon42:c.G4771C:p.E1591Q,ANK2:NM_001354244:exon42:c.G4627C:p.E1543Q,ANK2:NM_001354254:exon42:c.G4642C:p.E1548Q,ANK2:NM_001354256:exon42:c.G4627C:p.E1543Q,ANK2:NM_001354272:exon42:c.G4564C:p.E1522Q,ANK2:NM_001354239:exon43:c.G4663C:p.E1555Q,ANK2:NM_001354252:exon43:c.G4663C:p.E1555Q	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	188400	Cardiac_arrhythmia,_ankyrin-B-related|not_provided|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:C3661900|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0647824733808	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746987182	2.805e-05	2.805e-05	3.539e-05	2.063e-05	8.945e-05	2.087e-05	1.878e-05	2.985e-05	2.022e-05	0	8.945e-05	0	0	0	0	3.148e-05	3.312e-05	0	5.919e-05	5.911e-05	3.858e-05	8.076e-05	0.0001	3.08e-05	2.212e-05	4.766e-05	3.339e-05	0	0	6.551e-05	0	0	0	0	0.0001	0.0005	0	0.052	0.72154	T	0.142	0.70582	T	0.999	0.77913	D	0.998	0.88582	D	0.012406	0.29184	N	0.233665	0.997647	0.44063	D	2.66	0.77858	M	-1.96	0.85091	D	-0.61	0.58733	N	0.312	0.41754	-0.2301	0.76885	T	0.397	0.74923	T	10	0.56864035	0.65193	D	0.064782	0.69382	D	0.694	0.88913	0.386	0.40624	0.828232658422	0.82660	0.4294400424720736	0.42861	0.381822959478	0.39529	0.478410691023	0.35837	T	0.497164	0.96160	T	0.152096	0.69463	D	0.156546	0.80593	D	0.455002371823956	0.30981	T	0.908809	0.77964	D	0.41477168	0.61742	0.3254056	0.58456	0.41477168	0.61742	0.3254056	0.58455	-11.508	0.82372	D	0.16366731299911888	0.20181	0.268	0.52401	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.508166	0.70568	25.5	0.99783662158133613	0.87043	0.98373	0.82117	D	AEFBI	0.841014	0.75824	D	0.387982213936239	0.60770	4.269693	0.410425418929245	0.62213	4.433082	0.999970313135306	0.50053	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	4.46	0.53567	6.379000	0.73086	7.474000	0.59184	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0739:0.0:0.9261:0.0	13.889	0.63231	626	0.65439	.;.;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;Death domain|Death domain|Death domain;.;Death domain|Death domain|Death domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1469.43	34	chr4	113365098	.	G	C	1469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=443;ExcessHet=0;FS=1.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.27;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	9	0	1	0
chr4	118282880	118282880	C	G	exonic	PRSS12	.	nonsynonymous SNV	PRSS12:NM_003619:exon12:c.G2271C:p.R757S	Mental retardation, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	0.0791151522307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.03	0.54159	D	0.984	0.60733	D	0.88	0.62516	P	0.000001	0.84330	D	0.092640	0.985025	0.40226	D	0.165	0.08973	N	-2.31	0.87750	D	-1.34	0.33401	N	0.442	0.48042	-0.1698	0.78433	T	0.517	0.81903	D	10	0.38958955	0.54793	T	0.079115	0.73159	D	0.528	0.80067	0.537	0.64730	0.801236475193	0.79937	0.8055341132898387	0.80508	0.418444487779	0.42431	0.412324309349	0.26778	T	0.16079	0.50477	T	0.0687046	0.60691	T	-0.139087	0.60197	T	0.832176685333252	0.48700	D	0.737326	0.35372	T	0.2765532	0.50716	0.15489325	0.36332	0.2765532	0.50716	0.15489325	0.36331	-6.977	0.53866	T	.	.	0.426	0.60983	A	.	.	3.379174	0.46730	22.3	0.99479091863968205	0.66795	0.90523	0.51769	D	ALL	0.540864	0.55725	D	0.148132273511903	0.48725	3.081158	0.186802457122497	0.49122	3.119396	1.0	0.98316	0.634777	0.41761	0	0.0	0.00010	3	0.643519	0.47002	0	0.592323	0.36904	0	.	.	5.88	3.21	0.35933	0.460000	0.21635	-0.140000	0.11527	0.549000	0.26987	0.997000	0.40164	0.038000	0.21505	0.999000	0.91618	0.0:0.6465:0.0:0.3535	9.451	0.37889	952	0.10565	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	764.43	33	chr4	118282880	.	C	G	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.158;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.964;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	9	0	1	0
chr4	119031462	119031462	A	G	exonic	SYNPO2	.	nonsynonymous SNV	SYNPO2:NM_001128933:exon4:c.A2687G:p.H896R,SYNPO2:NM_001128934:exon4:c.A2687G:p.H896R,SYNPO2:NM_001286754:exon4:c.A2594G:p.H865R,SYNPO2:NM_133477:exon4:c.A2687G:p.H896R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0121520121327	.	.	8.247e-06	0	8.646e-05	0	0	0	0	0	6.5e-06	1	154602	rs752575486	7.525e-06	7.524e-06	1.225e-05	2.75e-06	0.0001	4.04e-06	2.95e-06	4.358e-05	2.767e-05	0	0.0001	0	0	1.872e-05	0	1.799e-06	3.311e-05	1.159e-05	2.63e-05	2.627e-05	2.571e-05	2.692e-05	0.0002	8.15e-06	5.14e-06	.	.	0	0	6.548e-05	0	0	9.423e-05	0	1.47e-05	0	0.0002	0.043	0.41364	D	0.157	0.31730	T	0.007	0.14184	B	0.004	0.10090	B	0.000114	0.50451	D	0.085870	0.960329	0.81001	D	2.02	0.55341	M	3.1	0.08371	T	-0.9	0.25118	N	0.18	0.19459	-1.0748	0.08390	T	0.025	0.10598	T	9	0.09904447	0.17948	T	0.012152	0.30463	T	0.051	0.14325	0.368	0.37687	0.0934897674506	0.08844	0.2188470487833112	0.21800	0.103562949394	0.11719	0.547295928001	0.45476	T	0.017958	0.14562	T	-0.376557	0.03275	T	-0.581703	0.14394	T	0.401490718126297	0.28998	T	0.731927	0.34732	T	0.104325086	0.24663	0.108760886	0.26204	0.104325086	0.24663	0.108760886	0.26203	-8.494	0.66093	D	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	2.014995	0.25606	16.82	0.97799107142184705	0.36052	0.97731	0.76726	D	AEFDBI	0.868618	0.78881	D	-0.024714579188444	0.40739	2.424508	0.133277803118357	0.46262	2.875039	0.999999992990365	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.76	4.56	0.55644	6.304000	0.72770	4.143000	0.42101	0.756000	0.94297	1.000000	0.71638	0.997000	0.33255	0.997000	0.79791	0.9312:0.0:0.0687:0.0	11.868	0.51783	577	0.69927	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2410.43	39	chr4	119031462	.	A	G	2410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.327;DP=528;ExcessHet=0;FS=3.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=0.306;SOR=0.468	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N,USP53:NM_001371397:exon14:c.G1941C:p.K647N,USP53:NM_001371399:exon14:c.G1941C:p.K647N,USP53:NM_001371398:exon15:c.G1941C:p.K647N,USP53:NM_019050:exon15:c.G1941C:p.K647N,USP53:NM_001371395:exon16:c.G1941C:p.K647N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	44.1	114	chr4	119271801	.	G	C	44.1	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.6;DP=1014;ExcessHet=0.2348;FS=215.676;InbreedingCoeff=-0.2047;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.6;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:67,0:67:0:.:.:0,0,1357:.	5	0	2	3
chr4	119320687	119320687	C	T	exonic	FABP2	.	nonsynonymous SNV	FABP2:NM_000134:exon2:c.G223A:p.D75N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0434069013869	.	0.000798722	0.0004	0	8.734e-05	0	0	3.01e-05	0.0011	0.0030	0.0003687	57	154602	rs546773434	0.0002	0.0002	0.0001	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	6.431e-05	7.886e-05	0	0	0	0	9.069e-06	0.0002	0.0029	7.889e-05	7.875e-05	6.43e-05	9.415e-05	0.0023	4.499e-05	3.514e-05	0.0013	0.0010	0	0	6.553e-05	0	0	0	0	0	0	0.0023	0.004	0.65419	D	0.076	0.42614	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.55	0.54728	T	-4.77	0.80425	D	0.716	0.71854	-0.4098	0.71717	T	0.337	0.70346	T	10	0.05150354	0.05041	T	0.043407	0.60966	D	0.365	0.68495	0.608	0.74063	0.593256499266	0.59003	0.9004884393129653	0.90020	0.134283164794	0.15126	0.631737828255	0.57392	T	.	.	.	-0.397018	0.02422	T	-0.34768	0.39470	T	0.363571961268865	0.27548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.62567	A	.	.	3.978350	0.58465	24.0	0.99847707122101825	0.92750	0.99690	0.98696	D	AEFBI	0.947085	0.95726	D	0.664787537532117	0.77329	6.653854	0.607279339640711	0.75466	6.315736	0.999999990105553	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.71	5.71	0.89031	7.364000	0.78783	5.818000	0.50061	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:1.0:0.0:0.0	19.474	0.94965	691	0.58815	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	678.43	54	chr4	119320687	.	C	T	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-1.523;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,987	9	0	1	0
chr4	121037318	121037318	T	C	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.A653G:p.E218G	.	434	1078	10	0	0	10	0.00461681	.	.	.	2358496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.307	0.0693982472715	0.0004	0.000199681	0.0004	0	0.0002	0	0	0.0006	0	0.0002	0.0003169	49	154602	rs202221151	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0003	0.0006	0.0004	5.974e-05	0.0004	0.0007	0	0	0.0012	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	7.22e-05	0	6.542e-05	0.0006	0	0	0.0034	0.0004	0	0.0004	0.032	0.44694	D	0.031	0.53788	D	0.801	0.45051	P	0.402	0.44547	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	0.51	0.55439	T	-1.49	0.36385	N	0.659	0.66873	-0.7235	0.59289	T	0.195	0.54884	T	10	0.2939554	0.46969	T	0.069398	0.70720	D	0.307	0.62838	.	.	0.693223118719	0.69058	0.48719642202084257	0.48639	0.405051829818	0.41395	0.571962833405	0.48956	T	0.053492	0.29459	T	-0.0656412	0.42021	T	0.0196531	0.71607	D	0.0680517926812172	0.08376	T	0.877212	0.59013	D	0.26235542	0.49297	0.26919973	0.52798	0.26235542	0.49297	0.26919973	0.52797	-6.012	0.46381	T	.	.	0.341	0.56005	A	.	.	4.112589	0.61406	24.3	0.99865283573826469	0.94366	0.98381	0.82198	D	AEFBI	0.962032	0.98349	D	0.540954148363099	0.69532	5.370481	0.603079814465716	0.75163	6.262258	0.999999843032711	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.7	5.7	0.88690	7.990000	0.87862	6.191000	0.54767	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.954	0.79660	827	0.39843	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.017241	0.009146	0.007576	0.05	1852.43	133	chr4	121037318	.	T	C	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.46;DP=1137;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.365;SOR=0.699	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	9	0	1	0
chr4	121037369	121037369	G	C	exonic	NDNF	.	nonsynonymous SNV	NDNF:NM_024574:exon4:c.C602G:p.T201S	.	436	1077	9	0	0	9	0.00416089	.	.	.	2820144	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.204	0.0216872234593	0.0005	0.000199681	0.0010	0	0.0011	0	0	0.0013	0.0011	0.0007	0.0008667	134	154602	rs200466645	0.0007	0.0007	0.0007	0.0007	0.0146	0.0007	0.0007	0.0121	0.0111	0.0002	0.0012	0.0096	0	5.616e-05	0.0146	0.0004	0.0014	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0007	9.622e-05	0	0.0012	0.0112	0	0	0.0068	0.0005	0.0047	0.0002	0.276	0.15717	T	0.507	0.10930	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.695	0.17993	N	0.65	0.52642	T	-0.44	0.14588	N	0.455	0.49237	-0.8705	0.50491	T	0.244	0.61319	T	10	0.008491099	0.00192	T	0.021687	0.44492	T	0.204	0.49076	0.196	0.10839	0.763780976484	0.76162	0.2937056347189592	0.29283	0.254108365317	0.27978	0.424705028534	0.28483	T	0.020045	0.15851	T	-0.203961	0.20235	T	-0.111304	0.62506	T	0.0608263988505474	0.07298	T	0.829717	0.49530	T	0.1737543	0.38141	0.15245628	0.35868	0.1737543	0.38141	0.15245628	0.35868	-2.469	0.05573	T	.	.	0.109	0.20780	B	.	.	2.484811	0.32052	18.93	0.987535742626932	0.45694	0.99237	0.93252	D	AEFBI	0.955310	0.97306	D	0.707482115093681	0.80125	7.225069	0.73993664393508	0.85405	8.570237	0.99999999998645	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	8.119000	0.89444	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.135	0.98019	827	0.39843	Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009063	0.000000	0.010870	0.023392	0.000000	0.017241	0.003049	0.000000	0.05	2361.43	133	chr4	121037369	.	G	C	2361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=1196;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-1.259;SOR=0.789	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	9	0	1	0
chr4	121670000	121670000	C	T	exonic	ANXA5	.	nonsynonymous SNV	ANXA5:NM_001154:exon11:c.G734A:p.R245Q	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00814331002882	0.0012	0.000199681	0.0010	0	0.0009	0	0	0.0015	0.0033	0.0003	0.0008603	133	154602	rs145513784	0.0006	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	9.164e-05	0.0006	0.0145	2.533e-05	5.623e-05	0.0026	0.0004	0.0013	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	7.227e-05	0	0.0012	0.0130	0	9.457e-05	0.0034	0.0005	0.0009	0.0002	0.076	0.38407	T	0.36	0.29249	T	0.999	0.77913	D	0.711	0.54536	P	0.000025	0.55875	D	0.113115	0.999994	0.58761	D	1.955	0.52871	M	2.76	0.11515	T	-2.93	0.64593	D	0.529	0.55799	-1.1791	0.00383	T	0.052	0.22114	T	10	0.0099906325	0.00224	T	0.008143	0.21572	T	0.239	0.54358	.	.	0.64992776045	0.64702	0.7287318009238326	0.72817	0.600742330255	0.55147	0.472031742334	0.34959	T	0.363	0.72864	T	-0.127122	0.31964	T	-0.0504644	0.66991	D	0.177510887384415	0.19077	T	0.956004	0.83260	D	0.493785	0.66728	0.28685826	0.54695	0.493785	0.66729	0.28685826	0.54695	-6.312	0.48817	T	.	.	0.273	0.54250	B	.;.;.	.;.;.	5.566614	0.92182	32	0.99848833101050494	0.92838	0.97867	0.77726	D	AEFBI	0.735570	0.68134	D	0.499319450162693	0.67051	5.030303	0.564963731177956	0.72447	5.810905	0.999999999997475	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	4.614000	0.60886	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.198	0.89762	802	0.44336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	569.43	39	chr4	121670000	.	C	T	569.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.455;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-1.843;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	9	0	1	0
chr4	121686366	121686366	T	A	exonic	ANXA5	.	stopgain	ANXA5:NM_001154:exon3:c.A16T:p.R6X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000547	0.43413	D	0.311562	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.703	0.73735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510359	0.94595	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.	High;.	7.805906	0.96879	36	0.99822321150720594	0.90502	0.91972	0.54663	D	AEFDBHCI	0.148901	0.27289	N	0.543367224055978	0.69678	5.391389	0.354337543485639	0.58769	4.04962	0.999999999999736	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.616919	0.45865	0	.	.	6.02	4.82	0.61641	3.715000	0.54625	2.201000	0.31287	0.665000	0.62972	0.849000	0.30428	0.951000	0.29025	0.432000	0.27494	0.0:0.0:0.1397:0.8603	12.500	0.55293	761	0.50382	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	34	chr4	121686366	.	T	A	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.256;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=1.29;SOR=0.71	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1171	9	0	1	0
chr4	121879767	121879767	T	G	exonic	TRPC3	.	nonsynonymous SNV	TRPC3:NM_001366479:exon11:c.A2651C:p.K884T,TRPC3:NM_003305:exon11:c.A2516C:p.K839T,TRPC3:NM_001130698:exon12:c.A2735C:p.K912T	.	423	1098	1	0	0	1	0.000455166	.	.	.	2099441	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.348	.	7.7e-05	0.00519169	0.0034	0	8.682e-05	0	0	3.001e-05	0.0011	0.0250	0.002956	457	154602	rs145948370	0.0015	0.0015	0.0008	0.0021	0.0235	0.0014	0.0014	0.0226	0.0223	9.028e-05	6.825e-05	3.836e-05	0.0001	0	0.0010	1.891e-05	0.0013	0.0235	0.0008	0.0008	0.0005	0.0012	0.0253	0.0007	0.0007	0.0216	0.0203	2.405e-05	0	0	0	0	0	0	4.41e-05	0	0.0253	0.019	0.53172	D	0.099	0.47828	T	.	.	.	.	.	.	0.000004	0.62929	D	0.062767	0.999947	0.52935	D	.	.	.	-0.95	0.78314	T	-2.12	0.49519	N	0.32	0.48227	-0.1374	0.79228	T	0.429	0.77160	T	10	0.006897241	0.00157	T	.	.	.	0.348	0.66956	.	.	0.84014280636	0.83862	0.7956241876983184	0.79515	0.932353545446	0.71882	0.647611618042	0.59647	T	.	.	.	-0.296391	0.09005	T	-0.180268	0.56499	T	0.0400294988163866	0.03696	T	0.845015	0.52334	T	.	.	.	.	.	.	.	.	-1.364	0.01508	T	.	.	0.150	0.49314	B	.;.;.	.;.;.	3.884680	0.56480	23.7	0.99496235126679466	0.67744	0.97500	0.75152	D	AEFGBI	0.721657	0.67183	D	0.285646308575517	0.55418	3.706114	0.396531322400193	0.61352	4.333967	0.994117993291492	0.33494	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	6.16	4.92	0.64147	4.264000	0.58657	6.050000	0.53084	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1322:0.8678	13.249	0.59470	847	0.35998	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.007576	0.05	1199.43	36	chr4	121879767	.	T	G	1199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.248;SOR=0.696	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1211,0,1114	9	0	1	0
chr4	122331384	122331384	C	T	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_015312:exon65:c.C11308T:p.R3770C,KIAA1109:NM_001384125:exon69:c.C11572T:p.R3858C	.	430	1090	2	0	0	2	0.00091659	.	.	.	3200728	BLTP1-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.353	0.00653396839474	0.0013	0.000399361	0.0012	0.0003	0.0005	0.0002	0.0003	0.0017	0.0023	0.0006	0.0011578	179	154602	rs77586875	0.0012	0.0012	0.0011	0.0012	0.0026	0.0011	0.0011	0.0016	0.0013	0.0003	0.0010	0.0023	5.048e-05	0.0004	0.0026	0.0013	0.0011	0.0006	0.0009	0.0009	0.0010	0.0008	0.0015	0.0008	0.0007	0.0012	0.0011	7.228e-05	0	0.0011	0.0020	0	0.0004	0.0034	0.0015	0.0014	0.0004	0.002	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	2.26	0.41750	T	-3.57	0.68999	D	0.279	0.31590	-0.7294	0.58994	T	0.239	0.60702	T	10	0.02985257	0.01112	T	0.006534	0.17215	T	0.353	0.67418	.	.	0.527958119908	0.52444	0.6408344828245317	0.64018	1.93690353185	0.93198	0.652093410492	0.60283	T	0.172408	0.52089	T	-0.16479	0.26025	T	-0.0341138	0.68095	D	0.0692916739349402	0.08552	T	0.991015	0.97232	D	0.4874215	0.66349	0.42830154	0.66548	0.55832416	0.70418	0.41672733	0.65748	-5.915	0.45562	T	.	.	0.269	0.63867	B	.;.;.	.;.;.	4.098615	0.61094	24.3	0.99939284968199948	0.99734	0.99271	0.93751	D	AEFDBI	0.896896	0.83847	D	0.811253738542987	0.86804	9.004729	0.824330953187795	0.91431	10.883	0.999999999999988	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	7.440000	0.79607	7.622000	0.62351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.260	0.98443	883	0.28872	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	923.43	39	chr4	122331384	.	C	T	923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.339;SOR=0.653	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1155	9	0	1	0
chr4	125450146	125450146	G	A	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon10:c.G9136A:p.A3046T,FAT4:NM_001291303:exon10:c.G9136A:p.A3046T,FAT4:NM_024582:exon10:c.G9130A:p.A3044T	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0097811890529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.14497	T	0.003	0.76473	D	0.92	0.51019	P	0.582	0.50238	P	0.114002	0.19292	U	0.268989	0.999641	0.48019	D	0.985	0.24966	L	0.81	0.48460	T	-1.49	0.38540	N	0.429	0.49237	-1.0516	0.13954	T	0.133	0.44661	T	10	0.27152833	0.44691	T	0.009781	0.25518	T	0.097	0.27909	0.436	0.48828	0.260580752073	0.25663	0.4072337811848174	0.40639	0.350990176469	0.36944	0.44729244709	0.31575	T	0.079482	0.36140	T	-0.0856307	0.38796	T	-0.360779	0.37964	T	0.53413745406617	0.33887	D	0.89801	0.64352	D	0.09152507	0.21449	0.10410685	0.24996	0.09152507	0.21449	0.10410685	0.24995	-4.692	0.33307	T	.	.	0.084	0.09723	B	.;.	.;.	2.974956	0.39663	21.0	0.99778197859703555	0.86519	0.95142	0.63592	D	AEFBI	0.434717	0.49565	N	0.334696669842401	0.57937	3.963259	0.445197975597489	0.64409	4.695434	0.868095149753161	0.25359	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	5.329000	0.65670	9.921000	0.82504	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:0.8554:0.1446	15.745	0.77702	922	0.19044	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1899.43	109	chr4	125450146	.	G	A	1899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.425;DP=1171;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-1.903;SOR=0.614	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	9	0	1	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	89.43	69	chr4	127704250	.	G	C	89.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.437;DP=367;ExcessHet=0;FS=143.25;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.25;SOR=6.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,911:.	9	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	89.63	69	chr4	127704251	.	G	C	89.63	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.145;DP=318;ExcessHet=0;FS=143.25;InbreedingCoeff=-0.0663;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.25;SOR=6.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,911:.	9	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	194.97	74	chr4	134199956	.	C	T	194.97	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.043;DP=669;ExcessHet=0.2348;FS=150.836;InbreedingCoeff=-0.2091;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.51;SOR=8.155	GT:AD:DP:GQ:PL	0/0:68,0:68:83:0,83,1345	6	0	2	2
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L,PABPC4L:NM_001363585:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	352.14	44	chr4	134200395	.	C	G	352.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.175;DP=1193;ExcessHet=0.2348;FS=392.746;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=1.83;SOR=9.022	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	8	0	2	0
chr4	140562322	140562322	G	A	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon5:c.C680T:p.T227I	.	428	1074	20	0	0	20	0.00922509	.	.	.	698382	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.808	.	0.0005	0.00239617	0.0021	0.0002	0.0006	0.0001	0	0.0005	0	0.0128	0.0018176	281	154602	rs148598275	0.0013	0.0013	0.0009	0.0017	0.0138	0.0013	0.0012	0.0131	0.0129	0	0.0002	7.652e-05	2.519e-05	9.361e-05	0.0066	0.0005	0.0013	0.0138	0.0007	0.0007	0.0006	0.0009	0.0110	0.0006	0.0006	0.0086	0.0078	0.0001	0	0.0001	0.0003	0	0.0003	0.0068	0.0006	0.0005	0.0110	0.004	0.65419	D	0.02	0.58613	D	0.482	0.36779	P	0.506	0.47823	P	0.000000	0.84330	D	0.050047	0.999977	0.53665	D	2.33	0.66821	M	-1.23	0.78860	T	-4.6	0.78976	D	0.913	0.91505	0.194	0.85801	D	0.574	0.84595	D	10	0.028290689	0.00963	T	.	.	.	0.808	0.93777	.	.	0.845090055923	0.84360	0.8954772011848708	0.89518	0.551757818701	0.52012	0.55037343502	0.45910	T	0.401625	0.75888	T	-0.0179814	0.49139	T	0.213071	0.83821	D	0.0599567019056929	0.07161	T	0.845215	0.52386	T	0.84657735	0.87083	0.66189057	0.80186	0.84657735	0.87085	0.66189057	0.80187	-9.762	0.72474	D	.	.	0.529	0.65877	A	.	.	3.296480	0.45235	22.1	0.99816094495634722	0.89973	0.95962	0.66912	D	AEFBHI	0.778488	0.71097	D	0.317027756926512	0.57021	3.868158	0.268756743005512	0.53724	3.539984	0.999999903691702	0.74766	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.530356	0.10902	0	.	.	5.83	4.9	0.63643	7.956000	0.87398	5.479000	0.48717	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0878:0.0:0.9122:0.0	12.504	0.55313	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.002717	0.014620	0.000000	0.008621	0.003049	0.000000	0.05	1338.43	33	chr4	140562322	.	G	A	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.687;DP=436;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=2.73;SOR=0.93	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:16:.:.:0,16,1123:.	1	0	9	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:59,0:59:0:.:.:0,0,969:.	0	0	9	1
chr4	143214872	143214872	A	G	exonic	USP38	.	nonsynonymous SNV	USP38:NM_001290325:exon9:c.A2896G:p.I966V,USP38:NM_032557:exon9:c.A2896G:p.I966V,USP38:NM_001290326:exon10:c.A1531G:p.I511V	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00388176495288	7.7e-05	0.00219649	0.0013	0	0.0004	0	0.0002	0.0005	0.0022	0.0074	0.0011966	185	154602	rs34511898	0.0007	0.0007	0.0005	0.0009	0.0097	0.0006	0.0006	0.0077	0.0070	0.0002	0.0004	0	5.043e-05	0	0.0097	0.0003	0.0010	0.0063	0.0004	0.0004	0.0003	0.0005	0.0041	0.0003	0.0003	0.0027	0.0023	9.62e-05	0	0.0004	0	0	0	0.0034	0.0004	0.0014	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002323	0.36766	N	0.266852	0.990221	0.24198	N	-1.87	0.00254	N	3.3	0.06368	T	0.22	0.04694	N	0.034	0.00942	-0.9532	0.40416	T	0.005	0.01615	T	10	0.0028949678	0.00046	T	0.003882	0.09117	T	0.099	0.28413	.	.	0.208000267992	0.20380	0.07072708280217306	0.07009	0.100027882419	0.11303	0.287045925856	0.08494	T	0.018406	0.14841	T	-0.714274	0.00030	T	-0.795196	0.02025	T	0.00843170338910793	0.00102	T	0.679332	0.28809	T	0.031801905	0.03088	0.028243097	0.01043	0.031801905	0.03087	0.028243097	0.01043	-3.337	0.16812	T	.	.	0.064	0.01645	B	.;.	.;.	1.087629	0.14711	11.26	0.41531138822335889	0.03002	0.56177	0.30051	D	AEFBI	0.060810	0.11582	N	-0.659996962292792	0.17169	0.8812293	-0.332924558462829	0.27042	1.497827	0.987969778514954	0.31385	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.88	5.0	0.66209	1.853000	0.38998	3.928000	0.40516	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0837:0.0:0.9163:0.0	12.481	0.55184	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.006793	0.026946	0.000000	0.000000	0.000000	0.003788	0.05	1298.43	86	chr4	143214872	.	A	G	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.351;DP=560;ExcessHet=0;FS=4.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.196;SOR=0.385	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr4	143999441	143999441	C	T	exonic	GYPB	.	nonsynonymous SNV	GYPB:NM_002100:exon3:c.G145A:p.G49R,GYPB:NM_001304382:exon4:c.G67A:p.G23R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00165078603425	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275078171	2.172e-06	2.192e-05	1.448e-06	2.895e-06	0.0004	5.8e-07	1.6e-07	6.307e-05	2.601e-05	0	0	0	0	0	0.0004	9.581e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47320	D	0.845	0.44702	T	.	.	.	.	.	.	0.000084	0.00436	N	6.132730	1	0.08975	N	.	.	.	2.86	0.14038	T	-3.67	0.70191	D	0.135	0.22228	-1.0218	0.23129	T	0.020	0.08500	T	9	0.10239974	0.18765	T	0.001651	0.02702	T	0.039	0.10176	0.432	0.48171	0.0138822411134	0.00435	0.01847447620011329	0.01801	0.0138822183601	0.01324	.	.	.	0.011123	0.09967	T	-0.288896	0.09746	T	-0.652755	0.08762	T	0.386360138654709	0.28426	T	0.333467	0.15660	T	0.16005336	0.35919	0.14176376	0.33749	0.16005336	0.35919	0.14176376	0.33748	-2.92	0.24370	T	.	.	0.116	0.29887	B	.;.;.;.;.	.;.;.;.;.	-2.971191	0.00011	0.001	0.93271237426627307	0.22969	0.00137	0.00841	N	AEFBI	0.085908	0.17417	N	-1.61350804969029	0.01198	0.05210411	-1.76386921138319	0.00882	0.03942428	0.687974761123489	0.22556	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.01	-3.05	0.05069	-5.044000	0.00184	-7.504000	0.01143	-2.042000	0.00423	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1462:0.3952:0.2668:0.1918	1.621	0.02550	713	0.56348	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2026.43	59	chr4	143999441	.	C	T	2026.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=460;ExcessHet=0;FS=1.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.84;MQRankSum=-1.109;QD=24.41;ReadPosRankSum=0.758;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1065:.	9	0	1	0
chr4	144019265	144019265	A	G	exonic	GYPB	.	nonsynonymous SNV	GYPB:NM_002100:exon1:c.T23C:p.V8A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0017093229967	.	.	9.537e-06	0	0	0	0	0	0	6.744e-05	3.84e-05	1	26028	rs768488450	6.849e-06	6.841e-06	8.177e-06	5.506e-06	3.482e-05	3.46e-06	2.53e-06	9.25e-06	4.56e-06	0	0	0	0	0	0	6.299e-06	0	3.482e-05	6.602e-06	6.576e-06	1.291e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.014	0.92824	D	.	.	.	.	.	.	0.842928	0.09020	N	0.886806	1	0.18612	N	.	.	.	2.9	0.12371	T	-1.39	0.36586	N	0.272	0.38232	-0.9767	0.35749	T	0.024	0.10058	T	9	0.09186214	0.16128	T	0.001709	0.02856	T	0.009	0.00846	0.512	0.61000	0.0138822411134	0.00435	0.07243066993356	0.07180	0.0115312063722	0.01082	.	.	.	0.00879	0.08043	T	-0.329757	0.06130	T	-0.610819	0.11918	T	0.430575758218765	0.30082	T	0.668433	0.27736	T	0.07279364	0.16219	0.07971893	0.17970	0.07279364	0.16218	0.07971893	0.17970	-4.204	0.26809	T	.	.	0.628	0.70012	P	.;.;.;.	.;.;.;.	-0.234554	0.02918	0.424	0.81209836513651568	0.13573	0.10643	0.16091	N	AEFBHCI	0.094644	0.19134	N	-1.04910788886775	0.07605	0.3538489	-1.17306328994416	0.06362	0.3060458	0.977786240271758	0.29855	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	1.96	-0.294	0.12196	-1.415000	0.02575	-1.667000	0.04953	0.359000	0.20063	0.000000	0.06391	0.000000	0.08366	0.193000	0.21690	0.6146:0.0:0.3854:0.0	3.945	0.08841	702	0.57624	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2095.43	34	chr4	144019265	.	A	G	2095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=510;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.27;MQRankSum=1.09;QD=11.39;ReadPosRankSum=0.007;SOR=0.642	GT:AD:DP:GQ:PL	0/1:97,87:184:99:2107,0,2241	9	0	1	0
chr4	146228305	146228305	C	A	exonic	REELD1	.	nonsynonymous SNV	REELD1:NM_001371071:exon5:c.C691A:p.P231T,REELD1:NM_001354631:exon6:c.C691A:p.P231T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402001407	1.817e-06	1.59e-06	3.962e-06	0	3.155e-06	0	0	.	.	0	0	0	0	0	0	3.155e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5344	0.67375	T	0.211	0.57094	T	4	0.23938566	0.41078	T	.	.	.	.	.	.	.	.	.	0.17775645776824467	0.17694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471453	0.13989	T	0.04180918	0.06225	0.11350937	0.27396	0.04180918	0.06224	0.11350937	0.27395	-3.363	0.14563	T	.	.	0.085	0.10159	B	.	.	0.720971	0.10903	7.572	0.98139230371771247	0.38588	0.15871	0.19121	N	AEFBI	0.055935	0.10299	N	-0.246946484340159	0.31225	1.748779	-0.318056639423935	0.27516	1.527359	0.973699256604031	0.29478	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.48	3.7	0.41607	-0.100000	0.10959	-0.093000	0.12034	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.813000	0.38311	0.0:0.7678:0.1507:0.0815	8.717	0.33580	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	40.96	.	chr4	146228305	.	C	A	40.96	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=20.48;SOR=0.693	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,39	3	1	0	6
chr4	146442743	146442743	G	C	exonic	SLC10A7	.	nonsynonymous SNV	SLC10A7:NM_032128:exon5:c.C475G:p.L159V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00886777179864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.233	0.26233	-1.0093	0.27136	T	0.052	0.21921	T	7	0.06724501	0.09342	T	0.008868	0.23390	T	0.027	0.05988	0.468	0.54052	0.0551355673512	0.04727	.	.	.	.	.	.	.	.	.	.	-0.274146	0.11299	T	-0.631568	0.10296	T	0.0675880426437943	0.08309	T	0.205079	0.02403	T	.	.	.	.	.	.	.	.	-3.603	0.17900	T	.	.	0.103	0.18289	B	.	.	0.034547	0.04527	1.223	0.53820714627003785	0.05014	0.07888	0.13878	N	AEFBCI	0.079812	0.16126	N	-1.18768939793637	0.05185	0.2357941	-1.28976330318613	0.04568	0.2157573	0.999850061185884	0.44174	0.475973	0.10046	0	0.601575	0.49859	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.05	-7.45	0.01229	0.658000	0.24662	1.343000	0.25751	-0.110000	0.15115	0.000000	0.06391	0.111000	0.22795	0.479000	0.28543	0.157:0.2028:0.4733:0.167	2.812	0.05111	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	415.43	33	chr4	146442743	.	G	C	415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.218;DP=374;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=-0.586;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1091	9	0	1	0
chr4	146639305	146639305	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGCGGCGGC:p.G68_R69insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs530695040	0.0061	0.0053	0.0060	0.0061	0.0072	0.0059	0.0059	0.0063	0.0062	0.0072	0.0016	0.0020	0.0004	0.0173	0.0013	0.0064	0.0036	0.0006	0.0074	0.0074	0.0071	0.0077	0.0072	0.0070	0.0069	0.0066	0.0064	0.0071	0	0.0048	0.0017	0.0011	0.0235	0	0.0072	0.0054	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	12038.6	40	chr4	146639305	.	T	TGGCGGCGGCGGC	12038.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=496;ExcessHet=0.7463;FS=5.287;InbreedingCoeff=-0.1762;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=33.16;ReadPosRankSum=-0.193;SOR=1.063	GT:AD:DP:GQ:PL	0/0:2,0:21:24:685,692,773	9	0	1	0
chr4	146639305	146639305	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGCGGC:p.G68_R69insGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530695040	0.0023	0.0020	0.0024	0.0022	0.0159	0.0022	0.0022	0.0146	0.0141	0.0159	0.0010	0.0001	0.0121	0.0005	0.0033	0.0018	0.0029	0.0013	0.0066	0.0066	0.0069	0.0063	0.0184	0.0062	0.0061	0.0173	0.0168	0.0184	0	0.0015	0.0003	0.0084	0.0003	0	0.0021	0.0054	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	12038.6	40	chr4	146639305	.	T	TGGCGGCGGC	12038.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=496;ExcessHet=0.7463;FS=5.287;InbreedingCoeff=-0.1762;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=33.16;ReadPosRankSum=-0.193;SOR=1.063	GT:AD:DP:GQ:PL	0/0:2,0:21:24:685,692,773	9	0	1	0
chr4	147866779	147866779	A	G	exonic	ARHGAP10	.	nonsynonymous SNV	ARHGAP10:NM_024605:exon7:c.A665G:p.N222S	.	437	1081	4	0	0	4	0.00184672	.	.	.	858324	Epidermolysis_bullosa_simplex_with_nail_dystrophy|not_provided	MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.00219188709733	.	.	0.0003	0	0.0005	0.0016	0	0.0002	0.0022	0.0001	0.000304	47	154602	rs145720035	0.0002	0.0002	0.0002	0.0003	0.0057	0.0002	0.0002	0.0042	0.0037	0.0002	0.0004	0.0002	0.0020	0	0.0057	0.0002	0.0005	0.0001	0.0002	0.0002	0.0003	0.0002	0.0015	0.0002	0.0002	0.0008	0.0006	4.811e-05	0	0.0002	0	0.0015	0	0.0136	0.0002	0.0014	0.0002	0.641	0.04987	T	0.628	0.07244	T	0.006	0.13644	B	0.003	0.08700	B	0.000142	0.49130	D	0.238952	0.854937	0.35286	D	-0.205	0.04094	N	3.76	0.03892	T	-0.75	0.21003	N	0.087	0.06454	-0.9314	0.43933	T	0.007	0.02360	T	10	0.015098661	0.00317	T	0.002192	0.04124	T	0.062	0.17934	0.258	0.20002	0.0846915920261	0.08053	0.20875505634515149	0.20791	0.111254763332	0.12551	0.613865315914	0.54861	T	0.010172	0.09205	T	-0.597439	0.00151	T	-0.661035	0.08196	T	0.0394319051347689	0.03588	T	0.848615	0.53011	T	0.10101962	0.23860	0.045721337	0.06214	0.10101962	0.23859	0.045721337	0.06214	-4.516	0.31097	T	.	.	0.056	0.00487	B	.	.	2.975938	0.39681	21.0	0.90113041660201187	0.19394	0.69993	0.34409	D	ALL	0.407420	0.47951	N	-0.408621925574924	0.25166	1.364136	-0.143879988529683	0.33644	1.926725	0.999999999999005	0.74766	0.741868	0.97996	0	0.779548	0.99637	0	0.459711	0.06710	0	0.662026	0.63922	0	.	.	6.17	5.0	0.66209	3.273000	0.51326	9.145000	0.78926	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8591:0.0:0.1409:0.0	9.026	0.35392	791	0.46100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.010101	0.006793	0.023392	0.000000	0.025862	0.000000	0.000000	0.05	1180.43	34	chr4	147866779	.	A	G	1180.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=417;ExcessHet=0;FS=3.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.403;SOR=0.827	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	9	0	1	0
chr4	150256234	150256234	G	A	exonic	DCLK2	.	nonsynonymous SNV	DCLK2:NM_001040260:exon16:c.G2288A:p.R763H,DCLK2:NM_001040261:exon17:c.G2339A:p.R780H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.203025961682	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1421294372	2.725e-05	0.0003	3.189e-05	2.245e-05	0.0001	2.01e-05	1.755e-05	4.226e-05	2.57e-05	0	0.0001	4.303e-05	0.0001	0	0	2.552e-05	1.799e-05	0	7.224e-06	0.0001	0	1.491e-05	1.542e-05	0	0	.	.	0	0	0	0	0	0	0	1.542e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.989	0.66517	D	0.375	0.50152	B	0.002117	0.37227	N	0.122062	0.88572	0.35844	D	1.39	0.34934	L	-0.3	0.67874	T	-0.27	0.13805	N	0.257	0.36148	-0.5293	0.67568	T	0.234	0.60075	T	10	0.27824995	0.45394	T	0.203026	0.86853	D	0.143	0.38195	0.271	0.22052	0.745666496146	0.74337	0.29864279845267555	0.29777	0.976763722486	0.73591	0.801798343658	0.82237	T	0.018137	0.14677	T	0.0124966	0.53366	T	-0.219826	0.52753	T	0.957317352294922	0.64979	D	0.869813	0.57430	D	0.19795835	0.41680	0.16195197	0.37644	0.19795835	0.41680	0.16195197	0.37643	-4.713	0.33979	T	.	.	0.193	0.49816	B	.;.;.	.;.;.	4.559779	0.71841	25.7	0.99810459255916262	0.89442	0.96766	0.70824	D	AEFDBI	0.723170	0.67287	D	0.375788672395939	0.60111	4.196746	0.41037635001282	0.62210	4.432726	0.999999769912673	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.66	4.66	0.57857	6.258000	0.72447	7.172000	0.57728	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1893:0.8107:0.0	11.016	0.46903	790	0.46189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	71.06	24	chr4	150256234	.	G	A	71.06	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.908;DP=281;ExcessHet=0;FS=11.781;InbreedingCoeff=-0.0815;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.766;SOR=3.521	GT:AD:DP:GQ:PL	0/0:31,0:31:92:0,92,765	8	0	1	1
chr4	150896425	150896425	G	C	exonic	LRBA	.	nonsynonymous SNV	LRBA:NM_001199282:exon16:c.C2036G:p.A679G,LRBA:NM_001364905:exon16:c.C2036G:p.A679G,LRBA:NM_001367550:exon16:c.C2036G:p.A679G,LRBA:NM_006726:exon16:c.C2036G:p.A679G	Immunodeficiency, common variable, 8, with autoimmunity, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	632014	Inborn_genetic_diseases|Combined_immunodeficiency_due_to_LRBA_deficiency	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700,Orphanet:445018	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.0181693055619	.	.	8.348e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs769836776	6.467e-06	6.846e-06	7.18e-06	5.752e-06	0.0002	3.04e-06	2.2e-06	2.75e-06	1.77e-06	0	0	0	0	0	0.0002	6.613e-06	1.733e-05	0	6.583e-06	6.569e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.053	0.39334	T	0.063	0.45318	T	0.005	0.25713	B	0.009	0.36881	B	0.000254	0.46924	D	0.147023	0.998663	0.45243	D	1.095	0.27400	L	0.74	0.50459	T	-1.68	0.42001	N	0.446	0.48780	-0.8383	0.52760	T	0.167	0.50534	T	10	0.2926815	0.46845	T	0.018169	0.40143	T	0.096	0.27654	0.456	0.52102	0.562879358496	0.55950	0.2893415663554679	0.28847	0.50819796643	0.48984	0.696129083633	0.66586	T	0.051296	0.28840	T	-0.0603757	0.42849	T	-0.324502	0.42079	T	0.687107861042023	0.40114	D	0.846215	0.52631	T	0.180329	0.39148	0.17125545	0.39295	0.180329	0.39148	0.17125545	0.39294	-4.7	0.33404	T	0.2134873286270781	0.28667	0.132	0.28464	B	.;.;.	.;.;.	3.588864	0.50628	23.0	0.9969396786782464	0.80112	0.91038	0.52739	D	AEFGI	0.500070	0.53348	D	0.162230958479416	0.49393	3.140167	0.301317150343092	0.55615	3.724618	0.642617211934495	0.22067	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	5.503000	0.66679	8.549000	0.77521	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1414:0.8586:0.0	15.165	0.72496	876	0.30350	.;Domain of unknown function DUF4704;Domain of unknown function DUF4704	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	659.43	33	chr4	150896425	.	G	C	659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=345;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.686;SOR=0.843	GT:AD:DP:GQ:PL	0/0:32,0:32:96:0,96,827	9	0	1	0
chr4	151103023	151103023	G	A	exonic	RPS3A	.	nonsynonymous SNV	RPS3A:NM_001006:exon4:c.G507A:p.M169I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.00686029040995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436635204	6.902e-07	6.84e-07	1.374e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.577e-06	6.569e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.268	0.23095	T	0.408	0.18178	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	1.32	0.33002	L	.	.	.	0.14	0.07444	N	0.637	0.67391	-1.0242	0.22344	T	0.117	0.41320	T	8	0.34009916	0.51084	T	0.00686	0.18149	T	0.334	0.65620	0.408	0.44230	0.627663019148	0.62462	0.7306565370976658	0.73010	1.13218365852	0.78658	0.869548678398	0.92504	D	0.147248	0.48524	T	0.068823	0.60705	T	-0.138917	0.60212	T	0.846623420715332	0.49877	D	0.847115	0.53695	T	0.28637308	0.51653	0.41686863	0.65758	0.28637308	0.51653	0.41686863	0.65758	-3.573	0.17467	T	.	.	0.617	0.73107	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.243576	0.64354	24.7	0.98778506812740785	0.46096	0.98938	0.88891	D	AEFBCI	0.957422	0.97660	D	-0.00885846253619124	0.41453	2.479791	0.217608414180812	0.50825	3.270524	0.999999999999999	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.89	4.89	0.63387	9.855000	0.98396	11.532000	0.93092	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.476	0.90742	639	0.64210	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	81.14	35	chr4	151103023	.	G	A	81.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.728;DP=499;ExcessHet=0.2348;FS=90.595;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.61;MQRankSum=-0.997;QD=0.55;ReadPosRankSum=2.05;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,15:70:67:0|1:151103022_T_C:67,0,1131:151103022	8	0	2	0
chr4	151174861	151174861	G	A	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001128924:exon1:c.C503T:p.P168L,SH3D19:NM_001378128:exon6:c.C503T:p.P168L,SH3D19:NM_001378131:exon6:c.C503T:p.P168L,SH3D19:NM_001009555:exon7:c.C503T:p.P168L,SH3D19:NM_001128923:exon7:c.C503T:p.P168L,SH3D19:NM_001243349:exon7:c.C503T:p.P168L,SH3D19:NM_001378121:exon7:c.C1343T:p.P448L,SH3D19:NM_001378122:exon7:c.C1343T:p.P448L,SH3D19:NM_001378126:exon7:c.C503T:p.P168L,SH3D19:NM_001378127:exon7:c.C503T:p.P168L,SH3D19:NM_001378130:exon7:c.C503T:p.P168L,SH3D19:NM_001378124:exon8:c.C1166T:p.P389L,SH3D19:NM_001378129:exon8:c.C503T:p.P168L,SH3D19:NM_001378123:exon9:c.C1166T:p.P389L	.	427	1094	1	0	0	1	0.00045683	.	.	.	3199420	SH3D19-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.400	0.0887897028964	0.0029	0.000599042	0.0016	0.0008	0.0005	0	0	0.0026	0.0024	8.916e-05	0.0016817	260	154602	rs147501781	0.0029	0.0029	0.0029	0.0029	0.0036	0.0028	0.0028	0.0035	0.0035	0.0006	0.0005	0.0008	0	9.431e-05	0.0011	0.0036	0.0024	0.0001	0.0019	0.0019	0.0021	0.0017	0.0034	0.0017	0.0017	0.0030	0.0029	0.0007	0	0.0014	0.0006	0	0.0002	0.0034	0.0034	0.0019	0.0004	0.001	0.91255	D	0.051	0.47828	T	1.0	0.90584	D	0.999	0.92359	D	0.000896	0.00704	N	3.603780	0.99996	0.58761	D	2.51	0.73131	M	-0.98	0.86283	T	-2.97	0.65858	D	0.424	0.62442	-0.0710	0.80758	T	0.775	0.92353	D	10	0.014683545	0.00309	T	0.08879	0.75201	D	0.400	0.71401	.	.	0.94822992479	0.94768	0.2527989558691502	0.25193	0.200311802764	0.22433	0.518447995186	0.41407	T	0.213285	0.57456	T	-0.172345	0.24881	T	-0.0237032	0.68785	D	0.045138757415615	0.04628	T	0.880912	0.59977	D	0.12789156	0.29916	0.18912494	0.42241	0.12789156	0.29915	0.18912494	0.42240	-5.508	0.41942	T	.	.	0.107	0.30842	B	.;.;.;.;.;.	.;.;.;.;.;.	4.725063	0.76048	26.4	0.99905410501061764	0.97651	0.97808	0.77284	D	AEFDBI	0.749355	0.69082	D	0.779766710816821	0.84826	8.397115	0.778551203216122	0.88267	9.517849	0.999999970093791	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	5.200000	0.64994	10.012000	0.83097	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	20.241	0.98374	603	0.67726	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1625.43	34	chr4	151174861	.	G	A	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.93;DP=447;ExcessHet=0;FS=1.35;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=0.251;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	9	0	1	0
chr4	151638721	151638721	A	T	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon8:c.A1191T:p.L397F,FAM160A1:NM_001109977:exon9:c.A1191T:p.L397F	.	439	1078	4	1	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0260345431684	0.0002	0.000998403	0.0007	0	0.0024	0	0	0.0014	0	0	0.0001682	26	154602	rs185879278	0.0004	0.0004	0.0004	0.0004	0.0056	0.0004	0.0004	0.0041	0.0036	0.0004	0.0005	0.0017	0	0.0002	0.0056	0.0003	0.0007	0.0003	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0	0	0.0003	0.0017	0	9.441e-05	0.0068	0.0006	0.0009	0.0004	0.017	0.51248	D	0.005	0.72224	D	0.988	0.62325	D	0.966	0.71341	D	.	.	.	.	0.999276	0.46519	D	2.16	0.60381	M	1.35	0.34648	T	-3.33	0.66206	D	0.426	0.46555	-0.9191	0.45675	T	0.128	0.43564	T	9	0.015257478	0.00320	T	0.026035	0.48976	D	0.264	0.57741	0.792	0.91365	0.152612264143	0.14878	0.4303526902390605	0.42952	.	.	0.825795769691	0.85919	D	0.115323	0.43381	T	-0.319585	0.06931	T	-0.334928	0.40917	T	0.118445007863018	0.14277	T	0.877212	0.59013	D	0.2462977	0.47597	0.29951608	0.55985	0.2462977	0.47597	0.29951608	0.55984	-11.181	0.80642	D	.	.	0.196	0.41783	B	.;.	.;.	2.951213	0.39270	20.9	0.99892608135222205	0.96666	0.69698	0.34291	D	AEFBHCI	0.246177	0.36698	N	0.391806070963713	0.60978	4.292937	0.348831817029669	0.58438	4.01419	0.779674773774992	0.23818	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.59	3.15	0.35301	0.766000	0.26225	1.955000	0.29907	0.691000	0.84096	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.782:0.0:0.218:0.0	9.382	0.37483	325	0.86759	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004658	0.013699	0.000000	0.000000	0.000000	0.055556	0.000000	0.000000	0.05	960.43	37	chr4	151638721	.	A	T	960.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.099;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.375;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	9	0	1	0
chr4	151649549	151649549	A	G	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon10:c.A1508G:p.Y503C,FAM160A1:NM_001109977:exon11:c.A1508G:p.Y503C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.107134147642	.	0.000199681	5.036e-05	0	0	0.0016	0	0	0	0	3.84e-05	1	26028	rs553292974	1.429e-06	1.368e-06	0	2.898e-06	1.262e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.724e-05	1.262e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999999	0.58761	D	3.45	0.92227	M	1.14	0.38397	T	-7.22	0.94274	D	0.905	0.90590	-0.4551	0.70231	T	0.261	0.63143	T	9	0.75686824	0.76048	D	0.107134	0.78307	D	0.872	0.96170	0.801	0.92017	0.32714864917	0.32323	0.8992670036402077	0.89898	.	.	0.795173168182	0.81229	T	0.261892	0.63341	T	0.181317	0.72163	D	0.226273	0.84490	D	0.978851795196533	0.72534	D	0.907509	0.67274	D	0.60243064	0.72821	0.57678145	0.75478	0.60243064	0.72822	0.57678145	0.75479	-8.989	0.67626	D	.	.	0.976	0.91121	P	.;.	.;.	4.912091	0.80831	27.4	0.9985076844645937	0.93013	0.98028	0.78995	D	AEFDBHCI	0.934903	0.92897	D	0.838297597019807	0.88431	9.576086	0.78543084697938	0.88762	9.705677	0.999999999994425	0.74766	0.67177	0.52595	0	0.541168	0.11318	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	5.17	5.17	0.70848	8.718000	0.91150	11.250000	0.90713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	1.0:0.0:0.0:0.0	15.045	0.71480	322	0.86904	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1389.43	33	chr4	151649549	.	A	G	1389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=445;ExcessHet=0;FS=2.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.661;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1312	9	0	1	0
chr4	151656246	151656246	G	A	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon11:c.G2566A:p.V856I,FAM160A1:NM_001109977:exon12:c.G2566A:p.V856I	.	422	1099	1	0	0	1	0.000454752	.	.	.	2755738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00824945657894	.	.	0.0004	0	0	0	0	0	0	0.0010	5.82e-05	9	154602	rs369125491	7.361e-05	7.182e-05	5.359e-05	9.418e-05	0.0007	6.177e-05	5.769e-05	0.0005	0.0005	0	5.602e-05	0	0	0.0004	0.0002	1.761e-05	0.0001	0.0007	5.911e-05	5.905e-05	5.141e-05	6.716e-05	0.0004	3.076e-05	2.209e-05	7.31e-05	3.036e-05	2.408e-05	0	6.534e-05	0	0	0.0004	0	1.47e-05	0	0.0004	0.008	0.58626	D	0.011	0.64786	D	0.999	0.77913	D	0.604	0.50922	P	.	.	.	.	0.99749	0.43934	D	2.53	0.73802	M	2.33	0.16492	T	-0.82	0.22508	N	0.258	0.29659	-1.0791	0.07524	T	0.084	0.32729	T	9	0.13535148	0.25756	T	0.008249	0.21853	T	0.198	0.48105	0.221	0.14371	0.134241683229	0.13084	0.31098400017869293	0.31011	.	.	0.742983937263	0.73412	T	0.037811	0.24611	T	-0.39076	0.02660	T	-0.439392	0.28876	T	0.236919277856821	0.22277	T	0.911109	0.68490	D	0.17616093	0.38513	0.1902983	0.42425	0.17616093	0.38513	0.1902983	0.42424	-9.364	0.70010	D	.	.	0.330	0.56760	B	.;.	.;.	5.171023	0.86670	29.0	0.99707609432796351	0.81074	0.99104	0.91284	D	AEFBI	0.887324	0.81947	D	0.759549624615598	0.83524	8.040334	0.776809052401499	0.88137	9.471377	0.999999999999997	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.45	5.45	0.79688	9.888000	0.98558	11.844000	0.97886	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.281	0.94039	317	0.87119	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1564.43	133	chr4	151656246	.	G	A	1564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.219;SOR=0.664	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1188	9	0	1	0
chr4	153397308	153397308	T	G	exonic	MND1	.	nonsynonymous SNV	MND1:NM_032117:exon6:c.T441G:p.C147W	.	435	1073	12	2	0	16	0.00740056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	.	0.0004	0.00219649	0.0019	0	0.0002	0	0	0.0004	0.0026	0.0125	0.0014553	225	154602	rs34155513	0.0009	0.0009	0.0005	0.0013	0.0120	0.0009	0.0009	0.0114	0.0112	5.979e-05	0.0002	0	0	0	0.0050	0.0002	0.0011	0.0120	0.0006	0.0006	0.0003	0.0010	0.0124	0.0005	0.0005	0.0099	0.0090	2.405e-05	0	0.0003	0	0	0	0	0.0004	0.0005	0.0124	0.098	0.40573	T	0.18	0.29442	T	0.987	0.61912	D	0.865	0.61524	P	0.000000	0.84330	D	0.041461	1	0.81001	D	3.37	0.91327	M	.	.	.	-6.4	0.96218	D	0.748	0.74735	-0.5454	0.66960	T	0.324	0.69255	T	9	0.012475997	0.00268	T	.	.	.	0.720	0.90101	.	.	0.361758802978	0.35793	0.6569080204790706	0.65627	0.511586276825	0.49235	0.618680477142	0.55543	T	0.26077	0.63218	T	-0.109848	0.34792	T	0.078829	0.75499	D	0.159456358214955	0.17831	T	0.911709	0.72366	D	0.54064786	0.69433	0.54937625	0.73947	0.54064786	0.69434	0.54937625	0.73947	-11.202	0.80754	D	.	.	0.452	0.65185	A	.;.	.;.	4.259806	0.64723	24.7	0.99216729701269402	0.55777	0.92021	0.54770	D	AEFGBI	0.652997	0.62619	D	0.341669177866107	0.58299	4.001551	0.244616661895043	0.52343	3.409832	0.0457380989113274	0.14663	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.44	2.94	0.33188	2.929000	0.48610	4.131000	0.42030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.1629:0.0:0.8371	8.238	0.30798	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.000000	0.000000	0.000000	0.009202	0.011364	0.05	1120.43	33	chr4	153397308	.	T	G	1120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.33;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=-0.994;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	9	0	1	0
chr4	153581524	153581524	A	C	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon9:c.A856C:p.I286L,TMEM131L:NM_015196:exon9:c.A856C:p.I286L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00866851782626	.	.	.	.	.	.	.	.	.	.	.	.	.	rs373560748	6.937e-07	6.84e-07	0	1.396e-06	2.56e-05	0	0	.	.	0	0	0	2.56e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.047	0.48855	D	0.683	0.41496	P	0.281	0.40336	B	0.004626	0.33547	N	0.290126	0.999856	0.27028	N	2.48	0.72069	M	2.38	0.19311	T	-0.94	0.25770	N	0.359	0.41557	-1.0622	0.11215	T	0.032	0.13898	T	10	0.15880916	0.29855	T	0.008669	0.22903	T	0.084	0.24469	0.434	0.48500	0.043077524339	0.03247	0.3914756277615572	0.39062	0.159689205792	0.18023	0.432423353195	0.29540	T	0.012218	0.25476	T	-0.25085	0.13993	T	-0.419033	0.31186	T	0.452326344737087	0.30882	T	0.847515	0.53996	T	0.063947566	0.13519	0.06786562	0.14099	0.063947566	0.13519	0.06786562	0.14098	-2.401	0.05139	T	.	.	0.169	0.49826	B	.;.;.	.;.;.	2.899368	0.38424	20.7	0.9796323394584876	0.37195	0.79921	0.39701	D	AEFGBI	0.155001	0.28013	N	-0.0620035393958628	0.39068	2.298019	0.0227479410146096	0.40773	2.438752	0.99994331708265	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.86	2.11	0.26299	1.330000	0.33387	5.351000	0.48373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7006:0.0:0.2994:0.0	8.829	0.34231	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1275.43	34	chr4	153581524	.	A	C	1275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.873;DP=446;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.21;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	9	0	1	0
chr4	153627657	153627657	G	C	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon31:c.G4177C:p.A1393P,TMEM131L:NM_015196:exon31:c.G4174C:p.A1392P	.	418	1060	41	3	0	47	0.021689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0101	0.00898562	0.0070	0.0139	0.0059	0	0.0003	0.0068	0.0110	0.0107	0.0070051	1083	154602	rs35543386	0.0070	0.0070	0.0068	0.0072	0.0236	0.0069	0.0068	0.0204	0.0192	0.0171	0.0076	0.0002	7.557e-05	0.0009	0.0236	0.0068	0.0079	0.0126	0.0098	0.0098	0.0095	0.0100	0.0174	0.0094	0.0092	0.0164	0.0160	0.0174	0	0.0131	0	0.0002	0.0002	0.0272	0.0070	0.0123	0.0100	0.111	0.29029	T	0.254	0.23433	T	0.918	0.53992	P	0.432	0.51908	B	0.079920	0.20955	N	0.510995	0.904796	0.27629	N	1.905	0.50856	L	2.39	0.19588	T	-1.58	0.38151	N	0.18	0.30574	-1.1150	0.02673	T	0.033	0.14073	T	10	0.0036915839	0.00068	T	.	.	.	0.056	0.15993	.	.	0.128874641272	0.12493	0.3607456332118572	0.35988	0.448003017577	0.44648	0.317208051682	0.12997	T	0.005717	0.18437	T	-0.587468	0.00174	T	-0.602353	0.12615	T	0.0279178617237596	0.01677	T	0.877812	0.59215	D	0.2115418	0.43482	0.22197399	0.47026	0.2115418	0.43481	0.22197399	0.47025	-3.541	0.17010	T	.	.	0.104	0.23675	B	.;.;.	.;.;.	1.853712	0.23552	16.06	0.98675804788432819	0.44539	0.88046	0.47806	D	AEFBCI	0.333054	0.43226	N	0.107246852498997	0.46800	2.914933	0.0520436456802148	0.42170	2.546096	0.999547907962721	0.40300	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	4.79	0.60909	3.431000	0.52582	1.482000	0.26828	0.676000	0.76740	0.988000	0.36536	0.912000	0.28152	0.019000	0.11356	0.0764:0.0:0.9236:0.0	12.522	0.55413	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.015152	0.019022	0.029240	0.000000	0.008621	0.027439	0.015152	0.05	1913.43	34	chr4	153627657	.	G	C	1913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.364;DP=468;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.3;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1240	9	0	1	0
chr4	154235038	154235038	A	G	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon20:c.T9614C:p.V3205A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00352563123237	.	.	4.129e-05	0	0	0	0	7.506e-05	0	0	3.23e-05	5	154602	rs113715697	2.189e-05	2.189e-05	2.042e-05	2.338e-05	1.529e-05	1.584e-05	1.356e-05	9.31e-06	7.61e-06	0	0	0	0	5.619e-05	0	1.529e-05	0.0002	0	6.568e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.549144	0.05359	N	1.312490	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0416	0.16830	T	0.072	0.29195	T	10	0.07137498	0.10513	T	0.003526	0.08000	T	0.039	0.10176	.	.	.	.	0.05699996416776833	0.05640	0.0874219901081	0.09857	0.234684616327	0.02332	T	.	.	.	-0.269294	0.11836	T	-0.516941	0.20605	T	0.0126443465602	0.00212	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	0.770236	0.11402	8.013	0.52519554064077711	0.04763	0.07274	0.13297	N	AEFI	0.090927	0.18421	N	-1.25554534424512	0.04227	0.1903644	-1.25838088117077	0.05008	0.2376267	1.16765892125419E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.14	-0.32	0.12090	1.144000	0.31177	0.776000	0.21438	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.6051:0.1206:0.2743:0.0	6.304	0.20337	744	0.52588	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3347.43	34	chr4	154235038	.	A	G	3347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.849;DP=570;ExcessHet=0;FS=5.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.771;SOR=0.442	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	9	0	1	0
chr4	154240817	154240817	A	G	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001358235:exon18:c.T7079C:p.L2360S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0074114254101	.	.	0.0001	0	0	0	0	0.0002	0.0011	0	0.0001164	18	154602	rs549518705	0.0001	0.0001	0.0001	0.0001	0.0023	9.608e-05	9.087e-05	0.0013	0.0011	0.0002	0.0004	0.0002	0	0	0.0023	9.625e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.16e-05	6.718e-05	0.0001	7.893e-05	0	0	0.0001	0	0	0	0.0136	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.661962	0.10419	N	0.827038	0.986281	0.24631	N	.	.	.	.	.	.	.	.	.	.	.	-1.0718	0.09022	T	0.082	0.32295	T	10	0.09973335	0.18118	T	0.007411	0.19657	T	0.050	0.13987	.	.	.	.	0.08087195601267189	0.08022	0.35636978624	0.37383	0.325476944447	0.14250	T	.	.	.	-0.364643	0.03874	T	-0.464001	0.26165	T	0.31317737698555	0.25544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.289873	0.29290	18.07	0.97248493084266829	0.33029	0.56576	0.30152	D	AEFDGI	0.080341	0.16241	N	-0.175265265011755	0.34167	1.946926	-0.011088863064998	0.39213	2.321622	0.0912743737151783	0.16130	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.63	0.40741	2.133000	0.41716	4.690000	0.44360	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.656:0.0:0.344:0.0	6.399	0.20831	744	0.52588	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1161.43	40	chr4	154240817	.	A	G	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.08;DP=451;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.7;ReadPosRankSum=-0.542;SOR=0.486	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr4	154332812	154332812	C	T	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.G3396A:p.M1132I,DCHS2:NM_001358235:exon5:c.G3396A:p.M1132I	.	9	1512	1	0	0	1	0.000330579	.	.	.	2213505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00851541788381	0.0003	0.000599042	0.0001	0.0009	8.639e-05	0	0	2.997e-05	0.0011	6.056e-05	0.0001229	19	154602	rs112836372	6.772e-05	6.772e-05	6.67e-05	6.875e-05	0.0031	5.67e-05	5.26e-05	0.0020	0.0017	0.0011	4.472e-05	7.652e-05	0	0	0.0031	1.709e-05	0.0003	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0	0	0	0	0	4.409e-05	0.0005	0	0.392	0.10766	T	0.351	0.17425	T	.	.	.	.	.	.	0.392555	0.04486	N	1.480490	0.999999	0.08975	N	.	.	.	0.7	0.51474	T	-0.42	0.14193	N	0.14	0.13911	-1.0713	0.09129	T	0.090	0.34463	T	10	0.01261425	0.00270	T	0.008515	0.22507	T	0.048	0.13305	.	.	0.0986583533028	0.09354	0.11701380185403844	0.11629	0.0779575711569	0.08777	0.261662632227	0.05090	T	.	.	.	-0.570478	0.00220	T	-0.684964	0.06685	T	0.00390581436297483	0.00041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.23005	B	.;.	.;.	0.000001	0.04284	1.071	0.61641362379722675	0.06760	0.11911	0.16940	N	AEFBCI	0.062881	0.12117	N	-1.3649620315182	0.02972	0.1320818	-1.34489501527293	0.03866	0.1812267	0.801170940046395	0.24189	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.06	-0.447	0.11623	-0.131000	0.10461	-2.490000	0.03690	-0.838000	0.02813	0.002000	0.15269	0.000000	0.08366	0.092000	0.17891	0.0:0.3461:0.1409:0.5131	5.704	0.17166	742	0.52873	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	790.43	35	chr4	154332812	.	C	T	790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.062;DP=404;ExcessHet=0;FS=1.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=0.408;SOR=0.963	GT:AD:DP:GQ:PL	0/1:63,35:98:99:802,0,1640	9	0	1	0
chr4	154332899	154332899	C	T	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.G3309A:p.M1103I,DCHS2:NM_001358235:exon5:c.G3309A:p.M1103I	.	9	1512	1	0	0	1	0.000330579	.	.	.	2213504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.067	0.00269720108092	0.0003	0.000599042	0.0001	0.0009	8.637e-05	0	0	2.999e-05	0.0011	6.056e-05	0.0001229	19	154602	rs113845841	6.977e-05	6.977e-05	7.078e-05	6.875e-05	0.0031	5.846e-05	5.457e-05	0.0020	0.0017	0.0011	4.472e-05	7.652e-05	0	0	0.0031	1.799e-05	0.0004	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0.0010	0	0	0	0	0	0	4.41e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.153001	0.17906	N	0.481416	1	0.08975	N	.	.	.	0.92	0.44461	T	1.54	0.00702	N	0.198	0.21839	-0.9823	0.34468	T	0.021	0.08732	T	10	0.009805858	0.00220	T	0.002697	0.05550	T	0.067	0.19503	.	.	0.0666544352282	0.05500	0.08850670014533675	0.08783	0.0779575711569	0.08777	0.430575251579	0.29286	T	.	.	.	-0.638796	0.00085	T	-0.783099	0.02361	T	0.0144125815019627	0.00290	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05231	B	.;.	.;.	-1.363993	0.00387	0.007	0.47315272521338214	0.03859	0.03075	0.07989	N	AEFGBCI	0.065556	0.12793	N	-2.31747084719849	0.00041	0.001782328	-2.31917809687607	0.00060	0.002640037	0.999999986313767	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.21	-10.4	0.00257	-1.632000	0.02126	-1.389000	0.05554	-0.749000	0.03603	0.002000	0.15269	0.000000	0.08366	0.032000	0.13371	0.1266:0.2816:0.4906:0.1012	7.576	0.27104	742	0.52873	Cadherin-like;Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.014620	0.000000	0.000000	0.000000	0.000000	0.05	1239.43	35	chr4	154332899	.	C	T	1239.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.482;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.419;SOR=0.662	GT:AD:DP:GQ:PL	0/1:86,55:141:99:1251,0,2101	9	0	1	0
chr4	154332969	154332969	G	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.C3239T:p.P1080L,DCHS2:NM_001358235:exon5:c.C3239T:p.P1080L	.	.	.	.	.	.	.	.	.	.	.	2357213	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0530539833478	.	.	4.122e-05	0	0	0	0	6.002e-05	0	6.056e-05	3.23e-05	5	154602	rs755977541	4.925e-05	4.925e-05	5.173e-05	4.675e-05	0.0010	3.992e-05	3.669e-05	0.0005	0.0003	2.987e-05	0.0004	0.0003	0	0	0.0010	2.968e-05	0.0001	1.159e-05	9.192e-05	9.186e-05	0.0001	8.057e-05	0.0001	5.523e-05	4.361e-05	6.804e-05	5.087e-05	0	0	6.533e-05	0	0	0	0.0136	0.0001	0	0	0.123	0.27544	T	0.272	0.22223	T	.	.	.	.	.	.	0.561593	0.11330	N	0.785318	0.999997	0.19072	N	.	.	.	0.15	0.60734	T	-3.14	0.64019	D	0.268	0.30347	-0.8104	0.54526	T	0.224	0.58843	T	10	0.14758956	0.27963	T	0.053054	0.65316	D	0.139	0.37390	.	.	0.409398589964	0.40557	0.2693377892361353	0.26846	0.0744065334722	0.08345	0.3474624753	0.17548	T	.	.	.	-0.320809	0.06832	T	-0.401037	0.33264	T	0.117237530648708	0.14157	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14614	B	.;.	.;.	2.376118	0.30495	18.45	0.63837951761771605	0.07330	0.68991	0.34013	D	AEFDGBCI	0.250493	0.37053	N	-0.503365745774984	0.21970	1.169874	-0.520240711574279	0.21604	1.169493	0.999880275062564	0.44867	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.613276	0.41899	0	.	.	5.43	2.72	0.31179	3.077000	0.49787	5.140000	0.47705	-0.119000	0.14319	0.931000	0.32310	1.000000	0.68203	0.078000	0.17132	0.1362:0.1237:0.7401:0.0	8.873	0.34486	742	0.52873	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1930.43	35	chr4	154332969	.	G	A	1930.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.173;DP=608;ExcessHet=0;FS=1.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-1.074;SOR=0.681	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	9	0	1	0
chr4	154333203	154333203	C	A	exonic	DCHS2	.	nonsynonymous SNV	DCHS2:NM_001142552:exon5:c.G3005T:p.R1002L,DCHS2:NM_001358235:exon5:c.G3005T:p.R1002L	.	.	.	.	.	.	.	.	.	.	.	2213503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0412137987408	0.0002	0.000599042	8.244e-05	0.0008	0	0	0	2.999e-05	0	0	8.41e-05	13	154602	rs139082640	4.446e-05	4.446e-05	4.492e-05	4.4e-05	0.0024	3.575e-05	3.257e-05	0.0015	0.0012	0.0008	2.236e-05	0	0	0	0.0024	1.349e-05	0.0001	1.159e-05	0.0002	0.0002	0.0002	9.397e-05	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	1.47e-05	0	0	0.059	0.37536	T	0.01	0.65728	D	.	.	.	.	.	.	0.009074	0.30531	N	0.237046	0.784506	0.29829	N	.	.	.	0.65	0.52642	T	-3.97	0.73684	D	0.563	0.58713	-0.9058	0.47355	T	0.165	0.50307	T	10	0.062257648	0.07931	T	0.041214	0.59806	D	0.220	0.51569	.	.	0.384252928164	0.38032	0.2374624852921909	0.23661	0.439132434169	0.43935	0.266890138388	0.05738	T	.	.	.	-0.300477	0.08614	T	-0.311906	0.43453	T	0.348730236291885	0.26969	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.36889	B	.;.	.;.	2.630526	0.34205	19.56	0.99278950328547377	0.57834	0.67714	0.33533	D	ALL	0.428185	0.49182	N	-0.117069128534798	0.36648	2.121279	-0.204678699709804	0.31368	1.774542	0.999997561931293	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.651492	0.60203	0	.	.	5.6	2.52	0.29514	1.733000	0.37779	-0.702000	0.07790	-0.176000	0.10722	0.956000	0.33378	0.000000	0.08366	0.164000	0.20782	0.0:0.5473:0.0:0.4527	7.077	0.24388	742	0.52873	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	2462.43	35	chr4	154333203	.	C	A	2462.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=502;ExcessHet=0;FS=0.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.834;SOR=0.629	GT:AD:DP:GQ:PL	0/1:94,97:191:99:2474,0,2094	9	0	1	0
chr4	154565991	154565991	C	T	exonic	FGB	.	nonsynonymous SNV	FGB:NM_001382759:exon2:c.C298T:p.P100S,FGB:NM_001382760:exon2:c.C298T:p.P100S,FGB:NM_001382761:exon2:c.C298T:p.P100S,FGB:NM_001382762:exon2:c.C298T:p.P100S,FGB:NM_001382763:exon2:c.C298T:p.P100S,FGB:NM_001382764:exon2:c.C298T:p.P100S,FGB:NM_001382765:exon2:c.C298T:p.P100S,FGB:NM_005141:exon2:c.C298T:p.P100S	Afibrinogenemia, congenital, Autosomal recessive;Dysfibrinogenemia, congenital;Hypofibrinogenemia, congenital, Autosomal recessive	8	1512	2	0	0	2	0.000660939	.	.	.	683623	not_provided|not_specified|Congenital_afibrinogenemia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	0.0499517293164	0.0020	0.00119808	0.0013	0	0.0007	0	0.0017	0.0020	0.0023	0.0002	0.0012484	193	154602	rs2227434	0.0014	0.0014	0.0014	0.0015	0.0017	0.0014	0.0014	0.0016	0.0016	0.0002	0.0010	0.0012	0	0.0017	0.0017	0.0016	0.0015	0.0002	0.0014	0.0014	0.0014	0.0013	0.0023	0.0012	0.0012	0.0020	0.0019	0.0003	0	0.0011	0.0006	0.0002	0.0017	0	0.0023	0.0009	0	0.256	0.16793	T	0.347	0.17640	T	0.008	0.14655	B	0.006	0.12133	B	0.070935	0.21506	N	0.502464	1	0.08975	N	2.125	0.59049	M	-1.54	0.81640	D	-0.26	0.11185	N	0.199	0.21969	-0.8263	0.53537	T	0.276	0.64763	T	10	0.007793635	0.00177	T	0.049952	0.64035	D	0.092	0.26621	.	.	0.753787265017	0.75156	0.3147103870203263	0.31384	0.169527096797	0.19113	0.330201566219	0.14965	T	0.170763	0.51862	T	-0.405035	0.02145	T	-0.360749	0.37966	T	0.019185219661445	0.00625	T	0.779722	0.41422	T	0.07642907	0.17283	0.06425028	0.12851	0.06980197	0.15322	0.07691057	0.17081	-3.449	0.15725	T	0.11348693191544625	0.09937	0.097	0.15921	B	.	.	1.241819	0.16376	12.50	0.92819033817537799	0.22347	0.17980	0.20069	N	AEFBI	0.785274	0.71570	D	-0.614536121407005	0.18506	0.961389	-0.565627035966214	0.20392	1.098437	0.999748450182885	0.42466	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	1.98	0.25351	0.384000	0.20396	-2.410000	0.03789	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.974000	0.55675	0.1681:0.3298:0.5021:0.0	11.095	0.47361	856	0.34373	Fibrinogen, alpha/beta/gamma chain, coiled coil domain|Fibrinogen, alpha/beta/gamma chain, coiled coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005092	0.000000	0.004076	0.000000	0.000000	0.000000	0.009434	0.011450	0.05	2270.43	33	chr4	154565991	.	C	T	2270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.784;DP=494;ExcessHet=0;FS=4.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.84;SOR=0.457	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,956	9	0	1	0
chr4	155854163	155854163	C	T	exonic	ASIC5	.	nonsynonymous SNV	ASIC5:NM_017419:exon3:c.G499A:p.V167M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00998866552893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.082	0.41573	T	0.027	0.19556	B	0.039	0.23607	B	0.020124	0.27106	N	0.299523	0.999999	0.08975	N	0.345	0.11182	N	-0.03	0.63077	T	0.41	0.03407	N	0.099	0.08088	-0.9976	0.30590	T	0.115	0.40831	T	10	0.08508891	0.14330	T	0.009989	0.25990	T	0.056	0.15993	0.532	0.64002	0.107399877778	0.10242	0.33488565483183047	0.33401	0.0129100740628	0.01244	0.241972893476	0.02971	T	0.058681	0.30909	T	-0.224538	0.17379	T	-0.56031	0.16347	T	0.149191706457598	0.17039	T	0.312169	0.06100	T	0.027550003	0.01962	0.048619468	0.07258	0.027550003	0.01961	0.048619468	0.07257	-5.579	0.42600	T	0.1349474907629638	0.14623	0.082	0.08948	B	.	.	0.667031	0.10352	7.082	0.96621314403001768	0.30481	0.06170	0.12153	N	AEFBI	0.043719	0.06945	N	-0.504700697163747	0.21928	1.167278	-0.388621572289735	0.25334	1.392638	0.994661216543945	0.33742	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	1.98	0.25351	0.922000	0.28351	.	.	-0.233000	0.07663	0.882000	0.31029	0.618000	0.25802	0.603000	0.31463	0.0:0.1944:0.0:0.8056	7.675	0.27648	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	34	chr4	155854163	.	C	T	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.212;DP=394;ExcessHet=0;FS=5.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.393;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	9	0	1	0
chr4	158868374	158868374	C	T	exonic	FNIP2	.	nonsynonymous SNV	FNIP2:NM_001346043:exon12:c.C676T:p.P226S,FNIP2:NM_001323916:exon13:c.C1807T:p.P603S,FNIP2:NM_020840:exon13:c.C1738T:p.P580S,FNIP2:NM_001366843:exon14:c.C1897T:p.P633S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	8e-05	0.000599042	0.0028	0	0	0.0001	0.0328	0.0016	0.0089	0	0.0021798	337	154602	rs188016133	0.0012	0.0012	0.0012	0.0011	0.0001	0.0011	0.0011	9.612e-05	8.959e-05	0	2.236e-05	3.826e-05	0	0.0286	0	0.0001	0.0013	8.116e-05	0.0023	0.0023	0.0011	0.0035	0.0010	0.0021	0.0020	0.0004	0.0002	0	0	0	0	0.0010	0.0293	0	0.0003	0.0019	0.0002	0.033	0.50676	D	0.215	0.45318	T	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999987	0.54805	D	2.745	0.80253	M	1.55	0.37910	T	-2.55	0.55181	D	0.337	0.37820	-0.6923	0.60801	T	0.256	0.62643	T	8	0.0073673725	0.00167	T	.	.	.	0.181	0.45247	.	.	0.232442253697	0.22838	0.4399152827993472	0.43908	0.630294044216	0.57025	0.515405356884	0.40980	T	0.024613	0.19153	T	-0.324789	0.06513	T	-0.279847	0.46820	T	0.14649763561385	0.16822	T	0.907909	0.67446	D	0.106056064	0.25077	0.1584008	0.36993	0.106056064	0.25077	0.1584008	0.36992	-2.847	0.08624	T	.	.	0.236	0.46938	B	.;.	.;.	3.219769	0.43859	21.8	0.99923495115647143	0.98917	0.99652	0.98359	D	AEFBI	0.734335	0.68050	D	0.726034962539294	0.81337	7.499066	0.681880086748359	0.81006	7.426479	0.999999999948616	0.74766	0.615465	0.37627	0	0.667123	0.63270	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.84	5.84	0.93373	7.043000	0.76293	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.253000	0.23340	0.0:1.0:0.0:0.0	20.200	0.98258	867	0.32089	Tripartite DENN domain, FNIP1/2-type;Tripartite DENN domain, FNIP1/2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2028.43	35	chr4	158868374	.	C	T	2028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.617;DP=448;ExcessHet=0;FS=4.031;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.59;ReadPosRankSum=-0.156;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	0	1	0
chr4	168275458	168275458	C	T	exonic	DDX60	.	nonsynonymous SNV	DDX60:NM_017631:exon16:c.G2191A:p.V731I	.	432	1081	6	3	0	12	0.00551978	.	.	.	2820259	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.0144953495856	0.0041	0.000599042	0.0039	0.0011	0.0054	0	0.0055	0.0048	0.0067	0.0027	0.0037904	586	154602	rs17853802	0.0046	0.0046	0.0045	0.0046	0.0051	0.0045	0.0044	0.0050	0.0049	0.0006	0.0045	0.0009	2.524e-05	0.0057	0.0023	0.0051	0.0037	0.0029	0.0040	0.0040	0.0040	0.0040	0.0068	0.0037	0.0036	0.0063	0.0061	0.0007	0	0.0032	0.0009	0	0.0048	0	0.0068	0.0043	0.0017	0.43	0.09543	T	0.493	0.11443	T	0.018	0.17786	B	0.015	0.17295	B	0.078053	0.21067	N	0.440664	0.999975	0.18612	N	0.39	0.12200	N	2.4	0.15608	T	-0.43	0.14390	N	0.069	0.04188	-0.9938	0.31617	T	0.017	0.06950	T	10	0.0035449564	0.00064	T	0.014495	0.34657	T	0.011	0.01250	.	.	0.137902524267	0.13322	0.12448782424348202	0.12374	0.131275834207	0.14802	0.24141561985	0.02919	T	0.003285	0.02687	T	-0.742999	0.00020	T	-0.828366	0.01291	T	4.27490194851998e-05	0.00000	T	0.493251	0.15238	T	0.02144217	0.00746	0.025741957	0.00631	0.02144217	0.00746	0.025741957	0.00630	-4.076	0.24935	T	.	.	0.079	0.07507	B	.	.	-1.262852	0.00471	0.010	0.47691831979692767	0.03920	0.01546	0.05073	N	AEFGBI	0.025664	0.01796	N	-1.40475498097985	0.02597	0.1148803	-1.41741239736317	0.03078	0.1428674	0.559684569556126	0.21403	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.37	-1.82	0.07433	-2.766000	0.00852	-9.926000	0.00760	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4141:0.1966:0.3893	6.829	0.23081	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	849.43	35	chr4	168275458	.	C	T	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.562;DP=401;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-0.307;SOR=0.813	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1029	9	0	1	0
chr4	168461973	168461973	A	C	exonic	DDX60L	.	nonsynonymous SNV	DDX60L:NM_001012967:exon5:c.T332G:p.L111R,DDX60L:NM_001291510:exon5:c.T332G:p.L111R,DDX60L:NM_001345927:exon5:c.T332G:p.L111R,DDX60L:NM_001378072:exon6:c.T332G:p.L111R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0211084786729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005286	0.32928	U	0.000000	0.976782	0.25353	N	.	.	.	1.42	0.33189	T	-5.32	0.87143	D	0.756	0.75466	-0.9556	0.39988	T	0.164	0.50045	T	10	0.7264623	0.74007	D	0.021108	0.43827	T	0.279	0.59619	0.74	0.87232	0.18274738541	0.17906	0.607579293685295	0.60689	0.213037995034	0.23811	0.559605836868	0.47212	T	0.457769	0.79601	T	-0.00513463	0.50944	T	-0.245152	0.50294	T	0.994586110115051	0.85963	D	0.908809	0.67676	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.81635	P	.;.;.;.	.;.;.;.	3.814137	0.55029	23.6	0.99658112516246755	0.77757	0.89323	0.49718	D	AEFBHCI	0.390350	0.46921	N	0.287638452010981	0.55521	3.716182	0.122768954539617	0.45715	2.829852	0.999998654487064	0.74766	0.52065	0.21626	1	0.588015	0.36545	0	0.573888	0.23631	0	0.677038	0.66255	0	.	.	3.25	3.25	0.36363	5.615000	0.67382	3.839000	0.40032	0.567000	0.28720	1.000000	0.71638	0.991000	0.31484	0.811000	0.38219	1.0:0.0:0.0:0.0	11.506	0.49715	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1009.43	39	chr4	168461973	.	A	C	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.271;DP=443;ExcessHet=0;FS=1.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.908;SOR=0.498	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	504.2	65	chr4	168898668	.	T	C	504.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.282;DP=732;ExcessHet=2.8389;FS=90.232;InbreedingCoeff=-0.3343;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.44;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,14:69:99:0|1:168898668_T_C:153,0,1735:168898668	5	0	5	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,14:69:99:0|1:168898668_T_C:153,0,1735:168898668	3	0	7	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S	.	441	1040	41	0	0	41	0.0193305	.	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019134	0.005051	0.013587	0.040936	0.000000	0.025862	0.006098	0.022727	0.05	802.43	33	chr4	174259787	.	T	C	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.276;DP=378;ExcessHet=0;FS=2.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.433;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,987	9	0	1	0
chr4	174976796	174976796	G	C	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.G1271C:p.C424S,ADAM29:NM_001130705:exon3:c.G1271C:p.C424S,ADAM29:NM_001130703:exon4:c.G1271C:p.C424S,ADAM29:NM_001130704:exon4:c.G1271C:p.C424S,ADAM29:NM_014269:exon5:c.G1271C:p.C424S,ADAM29:NM_001278125:exon6:c.G1271C:p.C424S,ADAM29:NM_001278126:exon6:c.G1271C:p.C424S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0266679623915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.001857	0.37840	U	0.000000	0.999998	0.08975	N	5.1	0.99921	H	1.94	0.22678	T	-9.8	0.98670	D	0.82	0.81658	-0.5933	0.65089	T	0.258	0.62834	T	9	0.9865602	0.98972	D	0.026668	0.49557	D	0.304	0.62510	0.962	0.99613	0.489449420884	0.48578	0.9742855263701126	0.97418	0.467995876995	0.46163	0.475811183453	0.35480	T	0.086424	0.37720	T	0.0576209	0.59315	T	-0.155008	0.58798	T	0.999632000923157	0.98254	D	0.845015	0.52334	T	0.7635974	0.81666	0.6661605	0.80424	0.7635974	0.81667	0.6661605	0.80425	-11.691	0.83314	D	.	.	0.973	0.89954	P	.;.;.;.;.;.	.;.;.;.;.;.	4.208211	0.63560	24.6	0.96640059064286987	0.30549	0.96069	0.67392	D	AEFBI	0.513199	0.54109	D	0.600746358501401	0.73223	5.931024	0.334334820257623	0.57567	3.923077	0.00115874907467431	0.08283	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	3.6	0.40374	5.731000	0.68201	9.145000	0.78926	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.091000	0.17840	0.0:0.0:1.0:0.0	11.009	0.46866	960	0.08626	Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain;Disintegrin domain|Disintegrin domain|Disintegrin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3207.43	34	chr4	174976796	.	G	C	3207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.56;DP=556;ExcessHet=0;FS=2.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.98;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	9	0	1	0
chr4	174977284	174977284	-	AT	exonic	ADAM29	.	frameshift insertion	ADAM29:NM_001278127:exon2:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001130705:exon3:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001130703:exon4:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001130704:exon4:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_014269:exon5:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001278125:exon6:c.1759_1760insAT:p.L588Ifs*4,ADAM29:NM_001278126:exon6:c.1759_1760insAT:p.L588Ifs*4	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269646449	4.79e-06	4.788e-06	2.723e-06	6.877e-06	0.0005	1.99e-06	1.28e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.799e-06	3.312e-05	0	6.575e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4317.39	34	chr4	174977284	.	C	CAT	4317.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.563;DP=533;ExcessHet=0;FS=1.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=0.603;SOR=0.834	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	9	0	1	0
chr4	174977762	174977762	C	T	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.C2237T:p.T746M,ADAM29:NM_001130705:exon3:c.C2237T:p.T746M,ADAM29:NM_001130703:exon4:c.C2237T:p.T746M,ADAM29:NM_001130704:exon4:c.C2237T:p.T746M,ADAM29:NM_014269:exon5:c.C2237T:p.T746M,ADAM29:NM_001278125:exon6:c.C2237T:p.T746M,ADAM29:NM_001278126:exon6:c.C2237T:p.T746M	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00347788547916	.	.	0.0007	0	0.0004	0	0	0.0005	0.0022	0.0026	7.76e-05	12	154602	rs142711835	0.0004	0.0004	0.0002	0.0005	0.0065	0.0003	0.0003	0.0048	0.0042	0	0.0004	0.0007	0	1.874e-05	0.0065	0.0001	0.0008	0.0029	0.0002	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.415e-05	0	0.0004	0.0003	0	0	0.0035	0.0002	0.0010	0.0031	0.138	0.25873	T	0.009	0.66756	D	0.991	0.64070	D	0.5	0.47649	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.5	0.02032	T	-0.17	0.09627	N	0.24	0.27077	-0.8499	0.51975	T	0.005	0.01651	T	8	0.0114863515	0.00251	T	0.003478	0.07878	T	0.053	0.14996	.	.	0.209622950755	0.20551	0.09652196550229174	0.09584	0.0750720904169	0.08422	0.265156507492	0.05521	T	0.002436	0.01826	T	-0.613562	0.00120	T	-0.659663	0.08290	T	0.0399643401919718	0.03683	T	0.585041	0.21304	T	0.016273126	0.00187	0.029660968	0.01328	0.016273126	0.00187	0.029660968	0.01328	-4.435	0.30028	T	.	.	0.077	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	0.610561	0.09792	6.556	0.96266335432899974	0.29234	0.00393	0.01973	N	AEFBI	0.024951	0.01629	N	-0.783625961754949	0.13736	0.6788855	-0.979396958444803	0.10248	0.5149442	2.33857128395381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.54	0.582	0.16594	-0.240000	0.08970	-4.095000	0.02345	0.437000	0.21030	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.802:0.0:0.198	6.178	0.19672	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.007576	0.05	6905.43	34	chr4	174977762	.	C	T	6905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=954;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=-0.988;QD=11.89;ReadPosRankSum=0.833;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	9	0	1	0
chr4	176162121	176162121	G	A	exonic	WDR17	.	nonsynonymous SNV	WDR17:NM_001378105:exon20:c.G2632A:p.D878N,WDR17:NM_001378106:exon20:c.G2632A:p.D878N,WDR17:NM_001378104:exon21:c.G2797A:p.D933N,WDR17:NM_181265:exon21:c.G2797A:p.D933N,WDR17:NM_001350727:exon22:c.G2869A:p.D957N,WDR17:NM_001378103:exon22:c.G2869A:p.D957N,WDR17:NM_170710:exon22:c.G2869A:p.D957N	.	432	1086	4	0	0	4	0.00183824	.	.	.	2820282	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0157253066431	0.0035	0.00159744	0.0028	0.0006	0.0009	0	0.0021	0.0043	0	0.0015	0.0027749	429	154602	rs148579014	0.0043	0.0044	0.0045	0.0042	0.0050	0.0043	0.0042	0.0049	0.0049	0.0004	0.0007	0.0035	0	0.0030	0.0005	0.0050	0.0046	0.0021	0.0026	0.0026	0.0026	0.0027	0.0044	0.0024	0.0023	0.0040	0.0038	0.0008	0	0.0007	0.0040	0	0.0025	0	0.0044	0.0005	0.0033	0.123	0.28271	T	0.26	0.23638	T	0.77	0.43887	P	0.411	0.44827	B	0.000021	0.55875	D	0.112987	0.999999	0.58761	D	2.175	0.60977	M	0.38	0.58176	T	-0.72	0.22078	N	0.534	0.56231	-0.5886	0.65276	T	0.282	0.65369	T	10	0.012596369	0.00270	T	0.015725	0.36624	T	0.159	0.41286	.	.	0.922754311206	0.92196	0.4543130370410806	0.45349	0.169914134058	0.19155	0.486896038055	0.37008	T	0.011125	0.09967	T	-0.407081	0.02079	T	-0.357527	0.38338	T	0.0411153845724279	0.03892	T	0.917608	0.70392	D	0.09502753	0.22355	0.08986318	0.21039	0.09502753	0.22355	0.08986318	0.21039	-7.734	0.59244	D	.	.	0.120	0.24867	B	.;.;.	.;.;.	3.803540	0.54822	23.5	0.99894746160900372	0.96819	0.98798	0.86991	D	AEFGI	0.891130	0.82680	D	0.540976914631386	0.69535	5.37067	0.624344427918629	0.76712	6.541862	0.999999999935801	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	8.974000	0.93007	9.757000	0.81495	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.862	0.96784	970	0.06235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	782.43	50	chr4	176162121	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.123;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.545;SOR=0.702	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	9	0	1	0
chr4	176195505	176195505	T	C	exonic	SPATA4	.	nonsynonymous SNV	SPATA4:NM_144644:exon1:c.A58G:p.K20E	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0317032853948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.28900	T	0.025	0.56192	D	0.001	0.07471	B	0.003	0.08700	B	0.768755	0.06584	N	1.141600	1	0.08975	N	1.39	0.34934	L	0.43	0.56772	T	-0.75	0.21003	N	0.156	0.16168	-0.9810	0.34771	T	0.107	0.38832	T	10	0.067307115	0.09359	T	0.031703	0.53723	D	0.058	0.16647	0.133	0.03747	0.378674557249	0.37480	0.3802740617635853	0.37942	0.138484058636	0.15620	0.395594537258	0.24454	T	0.003217	0.02616	T	-0.201907	0.20529	T	-0.527802	0.19506	T	0.03996403512181	0.03683	T	0.389061	0.09624	T	0.10643972	0.25167	0.07896605	0.17735	0.10643972	0.25167	0.07896605	0.17734	-3.925	0.22677	T	.	.	0.089	0.12084	B	.	.	0.738880	0.11084	7.732	0.97079037114924172	0.32272	0.00293	0.01568	N	ALL	0.044904	0.07281	N	-0.953675135263571	0.09610	0.4555862	-1.00450997110567	0.09686	0.4833178	0.999999999962052	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.42	0.604	0.16725	-0.100000	0.10959	-1.583000	0.05121	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.0:0.2142:0.2116:0.5742	3.707	0.07936	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2605.43	54	chr4	176195505	.	T	C	2605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.788;DP=594;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.542;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1398	9	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	495.27	103	chr4	176711629	.	G	C	495.27	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.125;DP=738;ExcessHet=2.8389;FS=92.991;InbreedingCoeff=-0.355;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.696;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1083:.	5	0	5	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,12:71:26:0|1:176711631_G_C:26,0,1818:176711631	2	0	7	1
chr4	183253920	183253920	C	T	exonic	WWC2	.	nonsynonymous SNV	WWC2:NM_024949:exon9:c.C1117T:p.R373C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00988591854046	.	.	4.178e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs755775249	3.284e-05	3.283e-05	2.859e-05	3.714e-05	0.0002	2.544e-05	2.249e-05	0.0001	8.65e-05	2.987e-05	4.473e-05	0	0	0	0.0002	2.428e-05	3.313e-05	0.0002	5.261e-05	5.254e-05	3.856e-05	6.731e-05	0.0004	2.559e-05	1.831e-05	7.299e-05	3.032e-05	4.83e-05	0	0	0	0	0	0	5.882e-05	0	0.0004	0.012	0.56456	D	0.003	0.83351	D	0.004	0.12183	B	0.0	0.01387	B	0.479271	0.12185	N	0.778142	0.999999	0.08975	N	1.73	0.44655	L	3.35	0.07125	T	-5.0	0.83027	D	0.168	0.21580	-1.0285	0.20940	T	0.038	0.16376	T	10	0.080553144	0.13088	T	0.009886	0.25766	T	0.103	0.29403	0.321	0.30064	0.307332253619	0.30352	0.06882124048762352	0.06820	0.0349017754887	0.03680	0.251774549484	0.03957	T	0.157174	0.49965	T	-0.422284	0.01655	T	-0.584679	0.14130	T	0.132878384885037	0.15646	T	0.527847	0.22079	T	0.093689404	0.22012	0.12073083	0.29135	0.093689404	0.22011	0.12073083	0.29134	-7.657	0.59389	D	.	.	0.079	0.11220	B	.;.;.;.	.;.;.;.	2.090055	0.26587	17.17	0.97865010272719233	0.36492	0.84957	0.44054	D	AEFBI	0.342834	0.43886	N	-0.765530918101605	0.14215	0.7063007	-0.752090671754514	0.15670	0.8253421	0.831822169756019	0.24707	0.732398	0.92422	0	0.59043	0.45803	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.65	1.75	0.23707	1.097000	0.30600	0.293000	0.16894	-1.802000	0.00623	0.943000	0.32764	0.000000	0.08366	0.000000	0.00833	0.1231:0.6681:0.0:0.2088	7.988	0.29383	961	0.08552	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1264.43	108	chr4	183253920	.	C	T	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=438;ExcessHet=0;FS=0.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.578;SOR=0.612	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1097	9	0	1	0
chr4	183694013	183694013	T	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon22:c.T2483C:p.V828A,TRAPPC11:NM_199053:exon22:c.T2483C:p.V828A	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	426	1075	18	3	0	24	0.0110396	.	.	.	251423	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified	MedGen:C3661900|MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.0081	0.00459265	0.0083	0.0022	0.0041	0	0.0112	0.0117	0.0088	0.0050	0.0083246	1287	154602	rs75176151	0.0098	0.0098	0.0097	0.0099	0.0110	0.0097	0.0096	0.0108	0.0107	0.0019	0.0054	0.0075	0	0.0086	0.0102	0.0110	0.0096	0.0066	0.0077	0.0077	0.0076	0.0078	0.0107	0.0073	0.0072	0.0101	0.0098	0.0021	0.0340	0.0081	0.0060	0	0.0115	0.0136	0.0107	0.0095	0.0070	0.009	0.57480	D	0.111	0.58613	T	0.165	0.44271	B	0.055	0.44933	B	0.000196	0.48115	D	0.143151	0.999898	0.50595	D	1.39	0.34934	L	.	.	.	-1.24	0.39692	N	0.556	0.58117	-0.7910	0.55671	T	0.157	0.48858	T	9	0.008762926	0.00198	T	.	.	.	0.076	0.22200	.	.	0.443695250439	0.43992	0.47742318771740505	0.47662	0.305917097717	0.32891	0.308522045612	0.11683	T	0.043789	0.26613	T	-0.444555	0.01216	T	-0.400961	0.33271	T	0.0228264379669178	0.01003	T	0.884911	0.61335	D	0.077215865	0.17513	0.11991077	0.28941	0.095509425	0.22479	0.13256696	0.31808	-8.326	0.63552	D	0.31311039729637674	0.41105	0.160	0.35992	B	.;.;.	.;.;.	3.106314	0.41883	21.4	0.99694055035843987	0.80112	0.99276	0.93823	D	AEFBI	0.835047	0.75301	D	0.167404169511582	0.49640	3.162047	0.265128046738744	0.53514	3.519996	0.999999895748678	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	5.78	5.78	0.91418	8.017000	0.88732	3.511000	0.38840	0.665000	0.62972	0.986000	0.36153	0.564000	0.25536	0.717000	0.34675	0.0:0.0:0.0:1.0	16.100	0.80972	855	0.34697	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.006793	0.000000	0.000000	0.017241	0.003049	0.011364	0.1	3823.14	38	chr4	183694013	.	T	C	3823.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.392;DP=626;ExcessHet=0.2348;FS=1.817;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.019;SOR=0.805	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	8	0	2	0
chr4	185372989	185372989	G	A	exonic	LRP2BP	.	nonsynonymous SNV	LRP2BP:NM_001377442:exon5:c.C376T:p.R126W,LRP2BP:NM_001385605:exon5:c.C376T:p.R126W,LRP2BP:NM_001385606:exon5:c.C373T:p.R125W,LRP2BP:NM_001377441:exon6:c.C376T:p.R126W,LRP2BP:NM_001377443:exon6:c.C376T:p.R126W,LRP2BP:NM_018409:exon6:c.C670T:p.R224W,LRP2BP:NM_001377440:exon7:c.C670T:p.R224W,LRP2BP:NM_001385601:exon7:c.C670T:p.R224W,LRP2BP:NM_001385602:exon7:c.C667T:p.R223W,LRP2BP:NM_001385603:exon7:c.C670T:p.R224W,LRP2BP:NM_001385604:exon7:c.C670T:p.R224W	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0291918616054	0.0008	0.000599042	0.0007	0.0003	0.0003	0	0.0002	0.0012	0	0.0001	0.0008409	130	154602	rs144800425	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0019	0.0019	0.0003	0.0007	0	0	1.872e-05	0.0009	0.0019	0.0009	0.0001	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0015	0.0014	0.0003	0	0.0010	0	0	0	0	0.0018	0.0005	0	0.021	0.49613	D	0.015	0.63109	D	0.99	0.68779	D	0.745	0.55870	P	0.269991	0.15147	N	0.689525	0.982208	0.39864	D	2.03	0.55503	M	0.69	0.51714	T	-3.78	0.71519	D	0.501	0.53357	-0.7625	0.57269	T	0.199	0.55400	T	10	0.06423673	0.08489	T	0.029192	0.51742	D	0.238	0.54217	.	.	0.747670682709	0.74539	0.5160079186753213	0.51523	0.642099514815	0.57786	0.216360390186	0.01110	T	0.219323	0.58229	T	-0.397257	0.02413	T	-0.348335	0.39396	T	0.0483231210481984	0.05202	T	0.885811	0.61165	D	0.17707317	0.38654	0.21070154	0.45467	0.17707317	0.38653	0.21070154	0.45466	-7.383	0.56785	T	.	.	0.113	0.24430	B	.;.;.	.;.;.	4.139220	0.62006	24.4	0.99904165215578067	0.97502	0.65357	0.32710	D	AEFBCI	0.446209	0.50237	N	0.411485058973026	0.62052	4.415087	0.384028138940719	0.60580	4.247115	0.999837538425152	0.43792	0.460665	0.09802	0	0.577304	0.33150	0	0.564498	0.18976	0	0.567892	0.33627	0	.	.	6.07	5.18	0.71140	1.832000	0.38791	5.069000	0.47160	0.676000	0.76740	0.773000	0.29391	1.000000	0.68203	0.246000	0.23158	0.0:0.1318:0.7315:0.1368	11.838	0.51615	948	0.11499	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1812.43	33	chr4	185372989	.	G	A	1812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=461;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.968;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr4	185373066	185373066	T	C	exonic	LRP2BP	.	nonsynonymous SNV	LRP2BP:NM_001377442:exon5:c.A299G:p.H100R,LRP2BP:NM_001385605:exon5:c.A299G:p.H100R,LRP2BP:NM_001385606:exon5:c.A296G:p.H99R,LRP2BP:NM_001377441:exon6:c.A299G:p.H100R,LRP2BP:NM_001377443:exon6:c.A299G:p.H100R,LRP2BP:NM_018409:exon6:c.A593G:p.H198R,LRP2BP:NM_001377440:exon7:c.A593G:p.H198R,LRP2BP:NM_001385601:exon7:c.A593G:p.H198R,LRP2BP:NM_001385602:exon7:c.A590G:p.H197R,LRP2BP:NM_001385603:exon7:c.A593G:p.H198R,LRP2BP:NM_001385604:exon7:c.A593G:p.H198R	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0441569825441	7.7e-05	.	0.0006	0	8.654e-05	0	0	9.005e-05	0.0011	0.0038	0.0004592	71	154602	rs370147340	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0033	8.983e-05	0	0	0	0	0.0021	4.433e-05	0.0005	0.0038	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0.0001	0	0	0	0	0	0.0034	0.0001	0	0.0033	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	0.72	0.50976	T	-6.39	0.91141	D	0.837	0.86618	-0.4837	0.69234	T	0.298	0.66924	T	10	0.10767934	0.20013	T	0.044157	0.61348	D	0.526	0.79947	.	.	0.811935933034	0.81016	0.7998572522109603	0.79939	0.857081204955	0.68784	0.723107039928	0.70499	T	0.24509	0.61433	T	-0.096645	0.36979	T	0.0872438	0.76059	D	0.245826373691438	0.22685	T	0.89611	0.65400	D	0.8943871	0.90887	0.8714756	0.92968	0.8943871	0.90889	0.8714756	0.92968	-11.669	0.83202	D	.	.	0.949	0.87094	P	.;.;.	.;.;.	4.780458	0.77484	26.7	0.99770745562060625	0.85918	0.90688	0.52074	D	AEFBCI	0.717659	0.66910	D	0.782095541402458	0.84974	8.440078	0.780830504458427	0.88428	9.579137	0.999999995857163	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.567892	0.33627	0	.	.	6.07	6.07	0.98675	6.736000	0.74614	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.629	0.84866	947	0.11584	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1296.43	33	chr4	185373066	.	T	C	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.149;DP=578;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.564;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr4	185431981	185431981	G	T	splicing	C4orf47	NM_001114357:exon2:c.101-1G>T	.	.	.	435	1085	2	0	0	2	0.00092081	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0	0	0	0.0043	0.0023	0	0.0005	0.0004981	77	154602	rs199811696	0.0022	0.0021	0.0022	0.0022	0.0024	0.0021	0.0021	0.0023	0.0023	0.0004	0.0004	0	0	0.0051	0.0007	0.0024	0.0015	0.0006	0.0020	0.0021	0.0022	0.0019	0.0033	0.0019	0.0018	0.0030	0.0028	0.0004	0	0.0008	0	0	0.0051	0	0.0033	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0384784	0.56847	T	0.283036	0.87288	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.325442	0.89380	30	0.99551436579381158	0.71148	0.97667	0.76276	D	AEFI	.	.	.	1.14232583742614	0.98844	19.58968	0.986511874353867	0.98349	18.03835	0.999999991350419	0.74766	0.162113	0.03585	0	0.18701	0.04157	0	0.078618	0.02440	0	0.057018	0.00518	0	0.986797	0.95047	5.27	5.27	0.73797	7.668000	0.82869	9.770000	0.81549	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.483	0.90769	932	0.16191	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	540.43	34	chr4	185431981	.	G	T	540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.753;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-2;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	9	0	1	0
chr4	185458801	185458801	G	T	exonic	CCDC110	.	nonsynonymous SNV	CCDC110:NM_001145411:exon5:c.C1675A:p.L559I,CCDC110:NM_152775:exon6:c.C1786A:p.L596I	.	870	651	1	0	0	1	0.00076746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0101978936003	0.0017	.	0.0019	0.0002	0.0003	0	0.0055	0.0028	0.0011	0.0004	0.0018046	279	154602	rs34739951	0.0017	0.0017	0.0017	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0003	0.0004	0	0	0.0048	0.0007	0.0019	0.0014	0.0004	0.0016	0.0016	0.0017	0.0015	0.0023	0.0014	0.0014	0.0020	0.0019	0.0004	0	0.0009	0	0	0.0051	0.0103	0.0023	0.0014	0	0.088	0.34269	T	0.196	0.27943	T	0.973	0.57599	D	0.73	0.55268	P	0.097662	0.20016	N	0.359994	1	0.08975	N	2.595	0.75868	M	1.42	0.33189	T	-0.52	0.16799	N	0.355	0.39659	-1.0478	0.15016	T	0.089	0.34216	T	10	0.006053984	0.00136	T	0.010198	0.26456	T	0.082	0.23913	.	.	0.173771789658	0.16945	0.07411402741532032	0.07348	0.45845590994	0.45458	0.414809584618	0.27122	T	0.005224	0.15260	T	-0.530908	0.00379	T	-0.539067	0.18389	T	0.0277346997257988	0.01649	T	0.776122	0.40827	T	0.048422784	0.08436	0.04904962	0.07414	0.048422784	0.08435	0.04904962	0.07414	-3.989	0.23639	T	.	.	0.088	0.13362	B	.;.;.	.;.;.	1.622276	0.20720	14.88	0.98725095905510241	0.45259	0.03545	0.08742	N	AEFI	0.045571	0.07468	N	-0.0286496072383525	0.40562	2.410871	-0.148985467089346	0.33447	1.913366	0.992643380137893	0.32916	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.55	1.59	0.22622	0.063000	0.14285	2.471000	0.32897	0.676000	0.76740	0.052000	0.21487	1.000000	0.68203	0.828000	0.39026	0.1604:0.2481:0.4092:0.1823	1.839	0.02955	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	59	chr4	185458801	.	G	T	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.73;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=0.612;SOR=0.741	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr4	186105585	186105585	C	G	exonic	FAM149A	.	nonsynonymous SNV	FAM149A:NM_001367768:exon1:c.C509G:p.T170R	.	410	1095	16	1	0	18	0.00815217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0650230218563	.	0.00179712	0	0	.	.	.	0	.	0	0.0004226	11	26028	rs568591648	0.0005	0.0004	0.0003	0.0007	0.0102	0.0005	0.0005	0.0094	0.0090	6.168e-05	0	0	0	0	0.0033	4.957e-05	0.0011	0.0102	0.0003	0.0003	0.0002	0.0005	0.0077	0.0003	0.0002	0.0057	0.0050	0	0	0.0001	0	0	0	0	0.0001	0.0005	0.0077	0.001	0.78490	D	0.088	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	0.805	0.20218	L	2.58	0.13434	T	-1.1	0.28497	N	0.495	0.52829	-1.1704	0.00532	T	0.056	0.23565	T	6	0.0096589625	0.00217	T	0.065023	0.69454	D	0.133	0.36157	0.274	0.22528	0.354610295913	0.35065	.	.	.	.	.	.	.	0.007428	0.06836	T	-0.0358462	0.46564	T	-0.289267	0.45849	T	0.649341158460043	0.38434	D	0.488951	0.15001	T	0.11536016	0.27223	0.19542763	0.43218	0.11536016	0.27223	0.19542763	0.43217	-3.099	0.11285	T	.	.	0.191	0.41063	B	.	.	3.327184	0.45789	22.2	0.98813431320627054	0.46655	0.33258	0.24785	N	AEFDBI	0.150836	0.27520	N	-0.0758640481542174	0.38454	2.252404	-0.117569785511647	0.34682	1.997741	0.999965315919444	0.48965	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.05	4.2	0.48814	0.312000	0.19147	2.072000	0.30448	0.459000	0.21562	0.000000	0.06391	0.007000	0.19602	0.156000	0.20513	0.0:0.8953:0.0:0.1047	8.444	0.31992	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	468.43	33	chr4	186105585	.	C	G	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.853;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.714;SOR=0.576	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,749	9	0	1	0
chr4	186271657	186271657	T	C	exonic	F11	.	nonsynonymous SNV	F11:NM_000128:exon3:c.T104C:p.I35T,F11:NM_001354804:exon3:c.T104C:p.I35T	Factor XI deficiency, autosomal dominant;Factor XI deficiency, autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.169697025058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.87	0.47827	P	0.56	0.49558	P	0.141612	0.18271	N	0.519481	1	0.08975	N	2.885	0.83555	M	-2.51	0.89293	D	-1.8	0.66549	N	0.496	0.55019	0.156	0.85163	D	0.706	0.89900	D	10	0.90724206	0.90089	D	0.169697	0.84745	D	0.535	0.80486	0.819	0.93262	0.997179382917	0.99714	0.8210437408541396	0.82061	0.364402611098	0.38057	0.421573936939	0.28053	T	0.703139	0.91469	D	0.0996717	0.64257	D	-0.094605	0.63811	T	0.922048568725586	0.58199	D	0.847515	0.52873	T	0.5143157	0.67931	0.31995893	0.57953	0.5143157	0.67932	0.31995893	0.57952	-11.531	0.82492	D	0.2471582409110823	0.33469	0.344	0.57504	A	.;.;.	.;.;.	3.264088	0.44655	22.0	0.99132699596529983	0.53302	0.69527	0.34223	D	AEFBI	0.932839	0.92382	D	0.216588279888825	0.52004	3.377357	0.147824346044051	0.47027	2.939205	0.999629863652152	0.41093	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	5.464000	0.66451	4.074000	0.41688	0.665000	0.62972	0.469000	0.26714	0.756000	0.26587	0.065000	0.16320	0.0:0.0:0.0:1.0	16.484	0.84016	589	0.68969	PAN/Apple domain|PAN/Apple domain|Apple domain|Apple domain;PAN/Apple domain|PAN/Apple domain|Apple domain|Apple domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1902.43	33	chr4	186271657	.	T	C	1902.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=462;ExcessHet=0;FS=1.292;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.592;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1289	9	0	1	0
chr4	186597074	186597074	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon25:c.G12466A:p.E4156K	.	.	.	.	.	.	.	.	.	.	.	1897662	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.410	0.0565253883629	0.0004	.	6.629e-05	0.0005	8.645e-05	0	0	1.5e-05	0.0011	0	5.17e-05	8	154602	rs199692977	2.805e-05	2.805e-05	1.906e-05	3.713e-05	0.0004	2.087e-05	1.878e-05	0.0002	0.0002	0.0004	4.472e-05	0	0	0	0.0002	2.248e-05	0	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.665e-05	7.257e-05	0.0003	0.0002	0.0004	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.326	0.13306	T	0.013	0.63109	D	0.769	0.43848	P	0.183	0.35961	B	0.000038	0.55875	D	0.159431	0.999321	0.46670	D	1.09	0.27330	L	-2.94	0.91851	D	-0.67	0.19297	N	0.404	0.48689	0.212	0.86115	D	0.593	0.85451	D	10	0.21454215	0.37980	T	0.056525	0.66635	D	0.410	0.72176	.	.	0.73673398233	0.73438	0.6651863676784127	0.66455	0.172189131585	0.19394	0.493432074785	0.37915	T	0.117867	0.43827	T	-0.208621	0.19574	T	-0.183412	0.56205	T	0.0290575065457418	0.01845	T	0.943706	0.78720	D	0.08953707	0.20922	0.11142302	0.26876	0.08953707	0.20922	0.11142302	0.26875	-4.743	0.33920	T	.	.	0.081	0.08465	B	.;.	.;.	3.224389	0.43945	21.8	0.99672782265241711	0.78717	0.94136	0.60221	D	AEFBCI	0.768894	0.70432	D	0.196946248058389	0.51053	3.289683	0.283717183706064	0.54589	3.62338	0.999999999998474	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	4.86	4.86	0.62624	6.172000	0.71841	4.893000	0.45784	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.848000	0.40082	0.0:1.0:0.0:0.0	18.166	0.89656	881	0.29269	EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1139.43	34	chr4	186597074	.	C	T	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=418;ExcessHet=0;FS=3.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.639;SOR=0.414	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	9	0	1	0
chr4	186609920	186609920	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon15:c.G9949A:p.D3317N	.	434	1084	4	0	0	4	0.00184162	.	.	.	709287	not_provided|FAT1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.349	0.0962073401596	0.0002	0.000199681	0.0006	0.0002	0.0003	0.0001	0	0.0003	0.0022	0.0025	0.0004722	73	154602	rs199989457	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0005	0.0023	0.0022	0.0001	0.0003	0	5.038e-05	1.873e-05	0.0007	0.0005	0.0005	0.0026	0.0004	0.0004	0.0005	0.0002	0.0027	0.0003	0.0003	0.0016	0.0013	0.0001	0	0	0	0	0	0	0.0005	0.0005	0.0027	0.041	0.41915	D	0.248	0.23914	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	4.67	0.01735	T	-1.53	0.37178	N	0.759	0.75742	-0.5681	0.66090	T	0.013	0.05081	T	10	0.05082819	0.04874	T	0.096207	0.76563	D	0.349	0.67049	.	.	0.432154444652	0.42834	0.519538591575162	0.51876	0.49701952007	0.48195	0.648297071457	0.59744	T	0.117551	0.43771	T	-0.554586	0.00274	T	-0.574638	0.15027	T	0.0596797902304094	0.07118	T	0.60154	0.22486	T	0.19423354	0.41165	0.115783885	0.27951	0.19423354	0.41165	0.115783885	0.27950	-3.675	0.18950	T	.	.	0.242	0.47665	B	.;.	.;.	3.890713	0.56604	23.8	0.99435982602710948	0.64522	0.98907	0.88457	D	AEFBI	0.942213	0.94651	D	0.412761421925094	0.62121	4.423162	0.403800005964557	0.61800	4.385445	0.999999999999777	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.22	5.22	0.72285	7.844000	0.85149	5.924000	0.51211	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:1.0:0.0:0.0	18.975	0.92708	864	0.32732	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1160.43	36	chr4	186609920	.	C	T	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.731;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	9	0	1	0
chr4	186618051	186618051	C	T	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.G8535A:p.M2845I	.	437	1076	8	1	0	10	0.00462535	.	.	.	709288	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00525293207678	0.0031	0.000599042	0.0027	0.0005	0.0019	0	0.0005	0.0041	0.0056	0.0012	0.0026067	403	154602	rs138948513	0.0029	0.0029	0.0028	0.0029	0.0038	0.0028	0.0028	0.0026	0.0025	0.0001	0.0019	0.0317	0	0.0003	0.0038	0.0026	0.0044	0.0013	0.0026	0.0026	0.0027	0.0025	0.0031	0.0024	0.0023	0.0025	0.0024	0.0006	0	0.0031	0.0328	0	0.0003	0.0034	0.0028	0.0033	0.0006	0.047	0.40319	D	0.219	0.25987	T	0.0	0.02946	B	0.003	0.08700	B	0.110024	0.19459	N	0.595450	0.990862	0.24114	N	-0.415	0.02918	N	0.74	0.50459	T	-0.75	0.21003	N	0.078	0.06059	-1.0695	0.09523	T	0.043	0.18576	T	10	0.011210442	0.00246	T	0.005253	0.13402	T	0.043	0.11576	0.43	0.47843	0.27132560031	0.26736	0.12022670813363842	0.11949	0.106771979007	0.12062	0.312404096127	0.12270	T	0.09343	0.39209	T	-0.599756	0.00146	T	-0.638276	0.09796	T	0.00361396936645843	0.00038	T	0.637336	0.25103	T	0.123832844	0.29069	0.12070323	0.29128	0.12337377	0.28971	0.11619297	0.28049	-2.084	0.03516	T	.	.	0.159	0.35098	B	.;.	.;.	1.350602	0.17583	13.25	0.9571054709978154	0.27618	0.55025	0.29761	D	AEFDBCI	0.117762	0.23056	N	-0.660860733478906	0.17144	0.8797289	-0.510065658348824	0.21879	1.185729	0.999979589567119	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	4.86	2.97	0.33479	0.222000	0.17482	0.239000	0.16284	0.599000	0.40250	0.966000	0.33990	0.267000	0.24023	0.234000	0.22842	0.2112:0.4363:0.2644:0.0881	3.139	0.06063	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	2513.43	142	chr4	186618051	.	C	T	2513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=1196;ExcessHet=0;FS=13.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.944;SOR=0.704	GT:AD:DP:GQ:PL	0/0:171,0:171:99:0,120,1800	9	0	1	0
chr4	186618621	186618621	G	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.C7965G:p.I2655M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0380668372533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.04456	T	0.419	0.14158	T	0.998	0.73220	D	0.98	0.74843	D	0.000015	0.62929	D	0.147981	0.60957	0.30872	N	2.975	0.85398	M	-0.47	0.70133	T	-1.12	0.28906	N	0.695	0.70000	-0.4250	0.71229	T	0.407	0.75649	T	10	0.693799	0.72018	D	0.038067	0.57999	D	0.407	0.71946	0.569	0.69167	0.520320716586	0.51677	0.5896184082154907	0.58891	0.424887816045	0.42902	0.420354455709	0.27884	T	0.263286	0.63496	T	0.111947	0.65554	D	-0.0769723	0.65125	T	0.908119738101959	0.56260	D	0.878612	0.59406	D	0.042714104	0.06527	0.05900426	0.11002	0.042714104	0.06526	0.05900426	0.11001	-9.411	0.70304	D	.	.	0.208	0.43503	B	.;.	.;.	0.264469	0.06425	2.897	0.29584331301718242	0.01576	0.38686	0.26044	N	AEFBCI	0.179948	0.30724	N	-0.584573709258929	0.19412	1.015793	-0.884748766536757	0.12455	0.6407587	0.999806457514557	0.43304	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.2	-5.93	0.02067	-0.148000	0.10203	-0.209000	0.10871	-0.633000	0.04490	0.261000	0.24959	0.003000	0.18671	0.071000	0.16709	0.3635:0.0:0.3161:0.3204	4.874	0.13008	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2016.43	142	chr4	186618621	.	G	C	2016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.824;DP=1018;ExcessHet=0;FS=2.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=2.16;SOR=0.755	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.4	523.98	19	chr4	189953101	.	C	T	523.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.414;DP=145;ExcessHet=10.3881;FS=0.939;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=52.97;MQRankSum=-2.362;QD=4.52;ReadPosRankSum=0.851;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:189953101_C_T:57,0,331:189953101	2	0	8	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	503.01	15	chr4	189953126	.	G	T	503.01	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.366;DP=136;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6672;MLEAC=8;MLEAF=0.4;MQ=52.73;MQRankSum=-2.287;QD=4.57;ReadPosRankSum=0.492;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:189953101_C_T:60,0,327:189953101	2	0	8	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	458.71	117	chr4	189957425	.	A	G	458.71	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.074;DP=883;ExcessHet=1.5895;FS=0.781;InbreedingCoeff=-0.2537;MLEAC=4;MLEAF=0.2;MQ=46.42;MQRankSum=-1.461;QD=1.22;ReadPosRankSum=-0.234;SOR=0.874	GT:AD:DP:GQ:PL	0/1:80,21:101:99:255,0,2271	6	0	4	0
chr5	113365	113365	C	A	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon2:c.C160A:p.H54N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36392742	0.52950	T	.	.	.	.	.	.	.	.	.	0.18944679909242274	0.18862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.866613	0.56692	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.58475	A	.	.	2.396103	0.30777	18.54	0.60825301823385425	0.06557	0.32983	0.24718	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.959794771238662	0.28448	0.295142	0.05270	0	0.085267	0.02369	0	0.343423	0.05949	0	0.062806	0.01542	0	0.0549955	0.12659	2.87	-1.27	0.08863	3.655000	0.54200	0.861000	0.22228	-0.356000	0.05535	0.999000	0.42656	0.972000	0.29809	0.004000	0.06068	0.0:0.2592:0.0:0.7408	6.387	0.20769	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	32.79	.	chr5	113365	.	C	A	32.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,100	5	0	1	4
chr5	139491	139491	C	A	exonic	PLEKHG4B	.	stopgain	PLEKHG4B:NM_052909:exon3:c.C252A:p.Y84X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.134501	0.94638	34	0.57942337244801934	0.05881	0.38138	0.25921	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.991213804233656	0.32412	0.252514	0.04256	0	0.063388	0.01293	0	0.295636	0.05589	0	0.062806	0.01542	0	0.126157	0.25284	2.55	0.479	0.16007	0.388000	0.20461	0.012000	0.13456	0.454000	0.21428	0.101000	0.22814	0.056000	0.21938	0.043000	0.14563	0.2659:0.4325:0.0:0.3016	2.045	0.03342	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	33.34	2	chr5	139491	.	C	A	33.34	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=16;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	4	0	1	5
chr5	169474	169474	A	G	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon14:c.A3611G:p.H1204R	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	.	0.0016	0.0091853	0.0064	0.0042	0.0008	0.0020	0	7.5e-05	0.0033	0.0426	0.0055239	854	154602	rs61750331	0.0027	0.0027	0.0015	0.0039	0.0398	0.0026	0.0026	0.0387	0.0383	0.0032	0.0007	0	0.0017	0	0.0009	8.543e-05	0.0036	0.0398	0.0025	0.0025	0.0018	0.0032	0.0421	0.0023	0.0022	0.0374	0.0355	0.0039	0	0.0004	0	0.0012	0	0	8.819e-05	0	0.0421	1.0	0.00964	T	1.0	0.01155	T	0.03	0.20002	B	0.02	0.19048	B	.	.	.	.	0.989976	0.24230	N	-2.07	0.00169	N	0.08	0.61559	T	1.37	0.00867	N	0.16	0.16725	-0.9985	0.30339	T	0.027	0.11397	T	9	0.0026985705	0.00042	T	.	.	.	0.218	0.51265	.	.	0.225902525712	0.22197	0.32225822215449323	0.32138	0.0999883255849	0.11303	0.264199435711	0.05401	T	0.040859	0.25665	T	-0.550711	0.00289	T	-0.533848	0.18904	T	0.00788626651126651	0.00093	T	0.815518	0.47040	T	0.028916806	0.02304	0.042368334	0.05031	0.028916806	0.02303	0.042368334	0.05030	-0.158	0.00410	T	.	.	0.075	0.05360	B	.;.	.;.	0.794125	0.11644	8.231	0.29920102873735588	0.01611	0.13629	0.17964	N	AEFDBHCIJ	0.045823	0.07537	N	-1.17976520588638	0.05306	0.2415864	-1.0481916977212	0.08745	0.4314519	0.999999987070736	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.41	0.437	0.15767	5.306000	0.65546	0.080000	0.14378	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.052000	0.15357	0.361:0.0:0.639:0.0	6.780	0.22827	912	0.21483	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.002924	0.050000	0.000000	0.006098	0.003788	0.05	1869.43	36	chr5	169474	.	A	G	1869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.852;DP=503;ExcessHet=0;FS=1.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.979;SOR=0.772	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1247	9	0	1	0
chr5	447695	447695	G	A	exonic	EXOC3	.	nonsynonymous SNV	EXOC3:NM_007277:exon3:c.G307A:p.V103M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.00873199552043	.	.	7.429e-05	0	0	0	0.0004	9.296e-05	0	0	1.94e-05	3	154602	rs764599617	1.042e-05	1.231e-05	1.515e-05	5.605e-06	3.033e-05	6.26e-06	4.96e-06	1.33e-06	9.7e-07	3.033e-05	0	0	0	9.645e-05	0	4.542e-06	6.712e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.188	0.28669	T	.	.	.	.	.	.	0.000001	0.84330	N	0.055564	1	0.81001	D	.	.	.	3.1	0.08283	T	0.33	0.03889	N	0.768	0.76573	-1.0365	0.18388	T	0.022	0.09147	T	10	0.51076335	0.62083	D	0.008732	0.23050	T	0.253	0.56294	.	.	0.213499824651	0.20940	0.46923261709173214	0.46842	1.37614566276	0.84668	0.719993531704	0.70046	T	.	.	.	-0.0449479	0.45212	T	-0.302341	0.44477	T	0.323862814778362	0.25978	T	0.894311	0.63332	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.60437	A	.;.	.;.	2.983829	0.39815	21.0	0.99486058922603338	0.67180	0.97271	0.73709	D	AEFGBCI	0.908202	0.86319	D	0.260081462918762	0.54140	3.580293	0.38075153673705	0.60377	4.224786	0.999999999999998	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.557000	0.97237	9.684000	0.81253	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.0:0.0:1.0:0.0	16.948	0.86107	814	0.42100	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	838.43	34	chr5	447695	.	G	A	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.768;DP=395;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=0.807;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1319	9	0	1	0
chr5	484656	484656	C	T	exonic	SLC9A3	.	nonsynonymous SNV	SLC9A3:NM_001284351:exon5:c.G796A:p.V266M,SLC9A3:NM_004174:exon5:c.G796A:p.V266M	Diarrhea 8, secretory sodium, congenital, Autosomal recessive	421	1078	21	2	0	25	0.0114626	.	.	YES	1072823	not_provided|SLC9A3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.0213898244609	0.0006	0.000399361	0.0012	0.0002	0.0011	0	0	0.0014	0.0034	0.0019	0.0010155	157	154602	rs140474355	0.0009	0.0009	0.0008	0.0009	0.0085	0.0008	0.0008	0.0066	0.0059	5.974e-05	0.0011	0.0055	2.519e-05	3.817e-05	0.0085	0.0007	0.0015	0.0019	0.0008	0.0008	0.0007	0.0008	0.0016	0.0006	0.0006	0.0011	0.0009	4.809e-05	0	0.0016	0.0063	0	0	0.0068	0.0009	0	0.0012	0.002	0.72154	D	0.008	0.67890	D	0.942	0.52977	P	0.826	0.59373	P	0.216980	0.16229	N	0.617305	1	0.08975	N	2.085	0.57729	M	2.22	0.18248	T	-1.53	0.37759	N	0.328	0.37301	-1.0776	0.07821	T	0.071	0.29066	T	10	0.01545018	0.00324	T	0.02139	0.44151	T	0.053	0.14996	.	.	0.292942362817	0.28906	0.4457684819745284	0.44494	1.85953752139	0.92388	0.435315996408	0.29936	T	0.135649	0.46757	T	-0.553641	0.00277	T	-0.574828	0.15009	T	0.0364475923392912	0.03058	T	0.865513	0.57764	D	0.15742323	0.35472	0.1525973	0.35895	0.15742323	0.35471	0.1525973	0.35894	-7.097	0.55445	T	.	.	0.121	0.25166	B	.;.;.	.;.;.	1.897887	0.24102	16.27	0.99775695929055008	0.86346	0.02601	0.07169	N	AEFDGBI	0.098318	0.19814	N	-0.162198626822734	0.34716	1.985005	-0.314998690435138	0.27615	1.533542	0.108151430030521	0.16575	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.45	2.31	0.27816	-0.588000	0.05867	-0.950000	0.06817	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.725000	0.34934	0.0:0.5039:0.1909:0.3051	4.255	0.10164	895	0.25842	Cation/H+ exchanger;Cation/H+ exchanger;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005061	0.000000	0.002732	0.000000	0.000000	0.025862	0.003106	0.007634	0.05	1635.43	37	chr5	484656	.	C	T	1635.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.835;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.101;SOR=0.762	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1401	9	0	1	0
chr5	840546	840546	A	G	exonic	ZDHHC11	.	nonsynonymous SNV	ZDHHC11:NM_024786:exon5:c.T733C:p.F245L	.	396	1053	73	0	0	73	0.0335016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00104621411682	.	.	0.0014	0.0052	0.0006	0.0024	0	0.0009	0.0033	0.0016	1.29e-05	2	154602	rs201008730	0.0002	0.0040	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0010	0.0003	0.0004	3.833e-05	0.0005	1.883e-05	0.0021	0.0002	0.0004	0.0005	0.0008	0.0098	0.0009	0.0007	0.0031	0.0007	0.0006	0.0019	0.0015	0.0017	0	0.0005	0	0.0031	0	0	0.0003	0.0020	0.0008	1.0	0.10802	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.09	0.08384	N	1.96	0.38556	T	1.6	0.33197	N	0.112	0.09914	-1.0577	0.12337	T	0.035	0.15074	T	9	0.0083985925	0.00191	T	0.001046	0.01167	T	0.099	0.28413	0.536	0.64585	0.149567049428	0.14543	0.32164779350983813	0.32077	0.066022613777	0.07365	0.213868185878	0.00987	T	0.002805	0.02196	T	-0.181055	0.23578	T	-0.49785	0.22571	T	0.00374376377463194	0.00040	T	0.242976	0.05020	T	0.03805676	0.04996	0.03860824	0.03767	0.03805676	0.04996	0.03860824	0.03767	-0.686	0.01569	T	.	.	0.157	0.42678	B	.;.;.	.;.;.	-1.027763	0.00732	0.022	0.082392823127223083	0.00061	0.00186	0.01083	N	AEFDGBI	0.019948	0.00741	N	-2.1408184491181	0.00104	0.004452357	-2.2138367864308	0.00104	0.004581189	0.998039345530398	0.36340	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	2.74	-5.47	0.02396	-0.923000	0.04109	-7.847000	0.01075	-0.595000	0.04637	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.0968:0.231:0.1463:0.5259	3.145	0.06079	946	0.12043	Palmitoyltransferase, DHHC domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013904	0.043210	0.009537	0.004202	0.000000	0.008621	0.023649	0.004065	0.1	1468.99	61	chr5	840546	.	A	G	1468.99	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.664;DP=1302;ExcessHet=0.2348;FS=11.033;InbreedingCoeff=-0.0938;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-17.52;QD=2.73;ReadPosRankSum=-4.324;SOR=2.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	0	2	0
chr5	1038308	1038325	CACGAGCACCACCACCAC	-	exonic	NKD2	.	nonframeshift deletion	NKD2:NM_033120:exon10:c.1291_1308del:p.E438_H443del	.	440	1071	7	1	3	12	0.0041841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.00239617	0.0030	0.0013	0.0058	0	0	0.0015	0	0.0050	9.06e-05	14	154602	rs562708775	0.0015	0.0015	0.0013	0.0016	0.0049	0.0014	0.0014	0.0043	0.0041	0.0011	0.0018	0.0002	0.0049	0.0006	0.0027	0.0013	0.0014	0.0036	0.0017	0.0017	0.0016	0.0018	0.0042	0.0015	0.0015	0.0028	0.0023	0.0013	0.0022	0.0017	0.0003	0.0037	0.0008	0	0.0018	0.0024	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3042.08	40	chr5	1038307	.	GCACGAGCACCACCACCAC	G	3042.08	.	AC=2;AF=0.1;AN=20;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=23.21;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,68:68:99:3065,207,0	9	1	0	0
chr5	1201691	1201691	G	A	exonic	SLC6A19	.	nonsynonymous SNV	SLC6A19:NM_001003841:exon1:c.G41A:p.R14Q	Hartnup disorder, Autosomal recessive;Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	1	1516	5	0	0	5	0.00164636	.	.	.	438573	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.360	.	0.0003	0.00938498	0.0040	0.0013	9.289e-05	0.0418	0	4.969e-05	0.0040	0.0053	0.0034411	532	154602	rs147458082	0.0012	0.0012	0.0011	0.0013	0.0281	0.0012	0.0011	0.0267	0.0261	0.0003	0.0002	0	0.0281	0	0.0025	8.185e-05	0.0019	0.0048	0.0018	0.0018	0.0015	0.0021	0.0390	0.0016	0.0016	0.0346	0.0329	0.0008	0	6.531e-05	0	0.0390	0	0	1.47e-05	0.0014	0.0068	0.38	0.11191	T	0.429	0.13752	T	0.996	0.68779	D	0.79	0.57710	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	2.425	0.70256	M	-0.84	0.74265	T	-0.51	0.15986	N	0.416	0.45615	-0.6240	0.63823	T	0.164	0.50111	T	10	0.0055764914	0.00123	T	.	.	.	0.360	0.68052	.	.	0.835705287042	0.83414	0.6509048960516874	0.65026	0.804611782485	0.66408	0.572321593761	0.49006	T	0.109616	0.42363	T	-0.253519	0.13669	T	-0.106239	0.62910	T	0.0312546300191037	0.02186	T	0.964504	0.86839	D	0.22184502	0.44771	0.1228755	0.29636	0.22184502	0.44771	0.1228755	0.29636	-3.997	0.23759	T	.	.	0.258	0.49245	B	.	.	4.493102	0.70201	25.5	0.99390535947709602	0.62337	0.97360	0.74257	D	AEFDGBHCI	0.931188	0.91962	D	0.314111036751437	0.56871	3.852732	0.278213668517385	0.54271	3.592467	0.999999999999973	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.03	4.03	0.46115	6.424000	0.73282	11.401000	0.92668	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:0.0:1.0:0.0	16.352	0.83048	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	1318.43	36	chr5	1201691	.	G	A	1318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.383;DP=412;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.551;SOR=0.562	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1079	9	0	1	0
chr5	1293561	1293563	TCC	-	exonic	TERT	.	nonframeshift deletion	TERT:NM_001193376:exon2:c.1323_1325del:p.E441del,TERT:NM_198253:exon2:c.1323_1325del:p.E441del	.	1	1516	5	0	0	5	0.00164636	.	.	.	207165	TERT-related_disorder|Interstitial_lung_disease_2|Dyskeratosis_Congenita,_Recessive|Aplastic_anemia|Dyskeratosis_congenita,_autosomal_dominant_2|Melanoma,_cutaneous_malignant,_susceptibility_to,_9|Acute_myeloid_leukemia|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_1|Idiopathic_Pulmonary_Fibrosis|not_provided|not_specified|Hepatoblastoma|Dyskeratosis_congenita	.|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MedGen:CN239315|Human_Phenotype_Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphanet:182040,Orphanet:88|MONDO:MONDO:0013521,MedGen:C3151443,OMIM:613989|MONDO:MONDO:0014056,MedGen:C3554574,OMIM:615134,Orphanet:618|Human_Phenotype_Ontology:HP:0001914,Human_Phenotype_Ontology:HP:0004808,Human_Phenotype_Ontology:HP:0004843,Human_Phenotype_Ontology:HP:0005516,Human_Phenotype_Ontology:HP:0006724,Human_Phenotype_Ontology:HP:0006728,MONDO:MONDO:0018874,MeSH:D015470,MedGen:C0023467,OMIM:601626,Orphanet:519|MONDO:MONDO:0013878,MedGen:C3553617,OMIM:614742,Orphanet:88|MeSH:D054990,MedGen:C1800706|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624,Orphanet:449|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.000798722	0.0006	0	0	0	0.0333	0.0014	0	0.0001	0.0003687	57	154602	rs377639087	0.0030	0.0029	0.0031	0.0029	0.0037	0.0029	0.0029	0.0036	0.0036	0.0006	0.0004	0.0013	0	0.0005	0.0030	0.0037	0.0017	5.039e-05	0.0023	0.0023	0.0026	0.0020	0.0039	0.0021	0.0020	0.0036	0.0034	0.0006	0.0308	0.0006	0.0017	0	0.0007	0.0068	0.0039	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004287	0.005376	0.007225	0.003125	0.000000	0.000000	0.003378	0.007874	0.05	1313.39	38	chr5	1293560	.	GTCC	G	1313.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=427;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.42;ReadPosRankSum=0.252;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr5	2755123	2755123	G	A	exonic	C5orf38	.	nonsynonymous SNV	C5orf38:NM_001365688:exon3:c.G428A:p.G143D	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00476248670423	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255742214	7.688e-06	9.577e-06	4.175e-06	1.123e-05	0.0001	4.13e-06	3.02e-06	6.399e-05	4.869e-05	0	0	0	0	0	0	0	1.691e-05	0.0001	6.564e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	317.43	35	chr5	2755123	.	G	A	317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.096;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-2.506;SOR=0.756	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1136	9	0	1	0
chr5	5222813	5222813	C	A	exonic	ADAMTS16	.	nonsynonymous SNV	ADAMTS16:NM_139056:exon11:c.C1630A:p.H544N	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0341694527389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.41915	T	0.0	0.92824	D	0.999	0.77913	D	0.979	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.855	0.49169	L	0.09	0.61443	T	-5.14	0.83292	D	0.693	0.84817	-0.6919	0.60820	T	0.312	0.68264	T	10	0.70376456	0.72607	D	0.034169	0.55491	D	0.289	0.60808	0.425	0.47021	0.694171868089	0.69153	0.724582354132452	0.72402	0.594295628875	0.54749	0.726900875568	0.71054	T	0.118544	0.43944	T	0.0281451	0.55476	T	-0.197348	0.54898	T	0.991635918617249	0.81957	D	0.952605	0.81930	D	0.61072063	0.73266	0.53121805	0.72913	0.61072063	0.73267	0.53121805	0.72913	-12.47	0.87064	D	.	.	0.310	0.63886	B	.;.	.;.	4.522633	0.70923	25.6	0.99074196789169089	0.51810	0.97544	0.75443	D	AEFBI	0.800729	0.72663	D	0.627775984988107	0.74937	6.21851	0.648335723384689	0.78487	6.886166	0.999999999969935	0.74766	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.191000	0.77294	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	18.184	0.89721	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1504.43	34	chr5	5222813	.	C	A	1504.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.323;DP=458;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.689;SOR=0.806	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr5	9629897	9629897	G	A	exonic	TAS2R1	.	nonsynonymous SNV	TAS2R1:NM_019599:exon1:c.C136T:p.L46F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0165823112079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs901174542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.215	0.26306	T	1.0	0.90584	D	0.987	0.77487	D	0.011607	0.29466	N	0.281626	1	0.08975	N	1.33	0.33268	L	1.25	0.36512	T	-2.43	0.53258	N	0.075	0.04913	-1.0389	0.17648	T	0.107	0.38931	T	9	0.45299244	0.58815	T	0.016582	0.37904	T	0.057	0.16321	0.45	0.51121	0.159798565429	0.15598	0.046975642592961296	0.04640	0.134026409472	0.15095	0.217880293727	0.01191	T	0.004687	0.04103	T	-0.20408	0.20219	T	-0.530923	0.19195	T	0.43265606004913	0.30159	T	0.742326	0.36163	T	0.2384049	0.46717	0.22702421	0.47699	0.2384049	0.46717	0.22702421	0.47698	-3.647	0.18539	T	.	.	0.130	0.46025	B	.;.;.	.;.;.	2.009174	0.25529	16.80	0.99553510127103573	0.71273	0.05622	0.11530	N	AEFI	0.095199	0.19237	N	-0.485748723136745	0.22548	1.204694	-0.672667492973596	0.17645	0.9391982	0.0112691162336638	0.12158	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	1.57	0.22490	-0.070000	0.11483	1.685000	0.28035	-0.120000	0.14102	0.000000	0.06391	0.939000	0.28734	0.009000	0.08673	0.1563:0.1389:0.4186:0.2862	1.733	0.02759	907	0.22727	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	42	chr5	9629897	.	G	A	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.427;DP=396;ExcessHet=0;FS=21.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.466;SOR=4.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,9:61:53:0|1:9629897_G_A:53,0,1781:9629897	9	0	1	0
chr5	9629899	9629899	T	C	exonic	TAS2R1	.	nonsynonymous SNV	TAS2R1:NM_019599:exon1:c.A134G:p.D45G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00697072356392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.95e-07	0.0001	1.385e-06	0	9.163e-07	0	0	.	.	0	0	0	0	0	0	9.163e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.41	0.14544	T	0.972	0.57405	D	0.834	0.59825	P	0.001484	0.38855	N	0.203537	1	0.08975	N	2.48	0.72069	M	5.28	0.01107	T	-5.27	0.84175	D	0.221	0.24758	-1.0652	0.10502	T	0.012	0.04795	T	9	0.84388024	0.83548	D	0.006971	0.18458	T	0.180	0.45073	0.907	0.98068	0.198526703765	0.19489	0.30592706975824924	0.30505	0.181784102494	0.20437	0.220265984535	0.01325	T	0.047635	0.27782	T	-0.151296	0.28110	T	-0.455102	0.27134	T	0.907852292060852	0.56226	D	0.736726	0.35329	T	0.24272408	0.47203	0.31256044	0.57258	0.24272408	0.47203	0.31256044	0.57257	-7.938	0.60647	D	.	.	0.246	0.51600	B	.;.;.	.;.;.	1.549963	0.19867	14.48	0.99374170248909566	0.61585	0.16288	0.19319	N	AEFI	0.110867	0.21969	N	-0.172712082696422	0.34273	1.954338	-0.388174666061177	0.25349	1.393468	0.0347002958415543	0.14166	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.32	2.85	0.32333	1.005000	0.29436	0.160000	0.15395	0.665000	0.62972	0.022000	0.19841	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.3002:0.6998	10.849	0.45965	907	0.22727	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	42	chr5	9629899	.	T	C	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.105;DP=396;ExcessHet=0;FS=21.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=0.387;SOR=4.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,9:61:53:0|1:9629897_G_A:53,0,1781:9629897	9	0	1	0
chr5	10450015	10450015	C	A	exonic	ROPN1L	.	nonsynonymous SNV	ROPN1L:NM_031916:exon3:c.C319A:p.P107T,ROPN1L:NM_001201466:exon4:c.C319A:p.P107T	.	424	1096	2	0	0	2	0.000911577	.	.	.	2470013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.415	0.0174519625133	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754500671	1.095e-05	1.094e-05	1.225e-05	9.628e-06	0.0005	6.48e-06	5.25e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	5.397e-06	6.624e-05	3.479e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055461	1	0.81001	D	3.305	0.90531	M	2.04	0.20808	T	-5.0	0.82341	D	0.849	0.84505	-0.8458	0.52256	T	0.156	0.48704	T	10	0.8679031	0.86043	D	0.017452	0.39153	T	0.415	0.72555	0.621	0.75576	0.450152462452	0.44640	0.5169805806104991	0.51621	0.776489147222	0.65059	0.531082510948	0.43187	T	0.173545	0.52245	T	0.0484929	0.58149	T	-0.0674897	0.65805	T	0.956490159034729	0.64768	D	0.753225	0.37546	T	0.49103764	0.66565	0.35589966	0.61109	0.49103764	0.66566	0.35589966	0.61109	-6.222	0.48101	T	.	.	0.546	0.66635	A	.;.	.;.	4.137197	0.61958	24.4	0.99717049602679519	0.81773	0.97779	0.77072	D	AEFDIJ	0.657795	0.62930	D	0.66209094006564	0.77153	6.620265	0.56875668404686	0.72711	5.853277	0.999999999999057	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.927000	0.75657	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:1.0:0.0:0.0	15.735	0.77599	711	0.56613	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	389.43	51	chr5	10450015	.	C	A	389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=-0.985;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	9	0	1	0
chr5	10461332	10461332	C	A	exonic	ROPN1L	.	nonsynonymous SNV	ROPN1L:NM_031916:exon4:c.C566A:p.S189Y,ROPN1L:NM_001201466:exon5:c.C566A:p.S189Y	.	412	1106	2	2	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	0.0105	0.0115815	0.0029	0.0289	0.0033	0.0001	0	0.0001	0.0033	0	0.0029042	449	154602	rs36124677	0.0010	0.0010	0.0011	0.0009	0.0328	0.0010	0.0010	0.0312	0.0306	0.0328	0.0026	0	0	0	0.0042	5.576e-05	0.0027	0.0002	0.0087	0.0087	0.0089	0.0085	0.0302	0.0083	0.0082	0.0288	0.0283	0.0302	0	0.0037	0	0	0	0.0034	4.41e-05	0.0047	0.0002	0.036	0.43393	D	0.04	0.50809	D	0.875	0.48103	P	0.548	0.49136	P	0.440412	0.04757	N	1.312980	1	0.08975	N	2.19	0.61577	M	1.74	0.26301	T	-2.1	0.47852	N	0.301	0.34012	-1.0376	0.18048	T	0.019	0.08033	T	10	0.0047522187	0.00100	T	.	.	.	0.101	0.28911	.	.	0.246215685461	0.24236	0.45177460848742457	0.45095	0.435277490918	0.43639	0.324746727943	0.14140	T	0.055791	0.30106	T	-0.676138	0.00051	T	-0.721005	0.04748	T	0.0224377004649319	0.00958	T	0.616838	0.23625	T	0.06922559	0.15148	0.08447657	0.19436	0.06922559	0.15148	0.08447657	0.19436	-5.315	0.40091	T	.	.	0.106	0.19518	B	.;.	.;.	1.770159	0.22508	15.65	0.97798855233726034	0.36052	0.07872	0.13863	N	AEFGBI	0.070229	0.13934	N	-0.63043872145547	0.18035	0.9330717	-0.810652543939859	0.14238	0.7428922	0.999924578249862	0.46280	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.76	-1.11	0.09336	0.137000	0.15816	-0.428000	0.09240	-0.218000	0.08083	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2562:0.4835:0.0:0.2603	4.762	0.12487	759	0.50631	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.023098	0.011696	0.100000	0.000000	0.003049	0.003788	0.05	2363.43	35	chr5	10461332	.	C	A	2363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.383;DP=536;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.518;SOR=0.685	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1390	9	0	1	0
chr5	11082825	11082825	C	A	exonic	CTNND2	.	nonsynonymous SNV	CTNND2:NM_001288716:exon13:c.G1648T:p.A550S,CTNND2:NM_001364128:exon14:c.G1723T:p.A575S,CTNND2:NM_001288715:exon15:c.G2386T:p.A796S,CTNND2:NM_001288717:exon15:c.G1360T:p.A454S,CTNND2:NM_001332:exon16:c.G2659T:p.A887S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.126375042316	.	.	4.129e-05	0	0	0	0	6.007e-05	0	6.066e-05	3.23e-05	5	154602	rs763000398	5.472e-06	6.156e-06	5.445e-06	5.5e-06	2.519e-05	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.48186	D	0.093	0.47097	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.185	0.30054	L	-0.61	0.71779	T	-1.68	0.41618	N	0.724	0.74826	-0.0321	0.81586	T	0.471	0.79631	T	10	0.747446	0.75391	D	0.126375	0.80802	D	0.448	0.74935	0.693	0.83032	0.611543997595	0.60841	0.6620833680248643	0.66145	1.33688621496	0.83761	0.823634624481	0.85585	D	0.180593	0.53198	T	-0.0533568	0.43937	T	-0.158054	0.58527	T	0.575280010700226	0.35437	D	0.936106	0.76057	D	0.2715903	0.50230	0.22520779	0.47458	0.2715903	0.50230	0.22520779	0.47457	-8.146	0.62060	D	0.5099572006883919	0.58384	0.273	0.50672	B	.;.;.	.;.;.	5.058423	0.84292	28.3	0.99860985688730886	0.93911	0.99037	0.90305	D	AEFDGI	0.835452	0.75336	D	0.673845200249461	0.77921	6.768357	0.662348454434292	0.79535	7.102625	0.999992669331789	0.74766	0.752111	0.98806	0	0.588015	0.36545	0	0.389834	0.06288	2	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	5.012000	0.63775	7.618000	0.62188	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:1.0:0.0:0.0	18.489	0.90790	898	0.25240	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1009.43	36	chr5	11082825	.	C	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=468;ExcessHet=0;FS=2.377;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-1.007;SOR=0.921	GT:AD:DP:GQ:PL	0/1:75,46:121:99:1021,0,1703	9	0	1	0
chr5	13714458	13714458	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon75:c.C13072T:p.R4358W	Ciliary dyskinesia, primary, 3, with or without situs inversus	1	1520	1	0	0	1	0.000328839	.	.	.	297174	Primary_ciliary_dyskinesia|Primary_ciliary_dyskinesia_3	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.306	0.0655960523073	.	.	4.126e-05	0	8.637e-05	0.0001	0	4.505e-05	0	0	4.53e-05	7	154602	rs753960777	5.951e-05	5.951e-05	5.173e-05	6.738e-05	0.0002	4.883e-05	4.561e-05	5.422e-05	4.966e-05	2.987e-05	2.236e-05	0	0	0	0.0002	6.655e-05	9.934e-05	4.637e-05	5.259e-05	5.255e-05	5.141e-05	5.383e-05	0.0001	2.558e-05	1.831e-05	4.764e-05	3.339e-05	2.415e-05	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	.	.	.	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999975	0.53665	D	3.415	0.91848	M	3.04	0.08810	T	-6.7	0.92476	D	0.707	0.71055	-0.9026	0.47717	T	0.088	0.34050	T	10	0.83769476	0.82924	D	0.065596	0.69625	D	0.306	0.62729	.	.	0.523910806359	0.52036	0.7036889131026518	0.70309	0.449518881182	0.44739	0.475227475166	0.35401	T	0.450498	0.79159	T	-0.057763	0.43257	T	-0.140453	0.60079	T	0.975361704826355	0.70902	D	0.981902	0.93870	D	0.8845199	0.90043	0.8228662	0.89723	0.8845199	0.90044	0.8228662	0.89723	-11.747	0.83597	D	0.3085897326485154	0.40638	0.308	0.53641	B	.	.	3.191918	0.43374	21.7	0.99885100660851744	0.96049	0.75666	0.37059	D	AEFDGCI	0.665900	0.63455	D	0.356659235019558	0.59092	4.085905	0.177745502528895	0.48630	3.076365	0.992073146343239	0.32709	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567339	0.31927	0	.	.	5.22	0.499	0.16119	1.639000	0.36791	5.364000	0.48408	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.0:0.4131:0.5869	15.096	0.71903	812	0.42537	Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	782.43	47	chr5	13714458	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=393;ExcessHet=0;FS=2.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=-1.413;SOR=0.409	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1375	9	0	1	0
chr5	13721028	13721028	C	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon71:c.G12251A:p.R4084Q	Ciliary dyskinesia, primary, 3, with or without situs inversus	1	1519	2	0	0	2	0.000657895	.	.	.	221596	Infertility_disorder|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.291	0.0601748669562	0.0002	0.000399361	7.418e-05	0	0	0	0	0.0001	0	6.057e-05	8.41e-05	13	154602	rs140832239	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	8.944e-05	0	7.559e-05	1.872e-05	0	0.0002	0.0001	5.797e-05	0.0001	0.0001	5.141e-05	0.0002	0.0002	6.509e-05	5.321e-05	0.0001	8.878e-05	2.408e-05	0	0.0001	0	0	0	0	0.0002	0	0	0.002	0.72154	D	.	.	.	0.995	0.67487	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.17	0.60663	M	3.1	0.08283	T	-3.91	0.73042	D	0.538	0.56576	-1.1414	0.01307	T	0.061	0.25310	T	10	0.4306407	0.57467	T	0.060175	0.67912	D	0.291	0.61040	.	.	0.431035450679	0.42721	0.6519883597301571	0.65134	0.304278428197	0.32738	0.498256921768	0.38585	T	0.279173	0.65184	T	-0.319026	0.06977	T	-0.426735	0.30306	T	0.629540503025055	0.37599	D	0.952605	0.81930	D	0.7459842	0.80636	0.66358155	0.80279	0.7459842	0.80637	0.66358155	0.80280	-8.662	0.65497	D	0.6701819666773238	0.74501	0.343	0.56118	A	.	.	3.864491	0.56067	23.7	0.99901546570077426	0.97350	0.98474	0.83158	D	AEFI	0.661117	0.63145	D	0.274142127660098	0.54840	3.648896	0.17796726010219	0.48642	3.077399	0.999855726135282	0.44174	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.18	4.31	0.50718	6.033000	0.70569	5.983000	0.52202	-0.172000	0.11096	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.9279:0.0:0.0721	14.311	0.65969	804	0.43891	Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1398.43	33	chr5	13721028	.	C	T	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=434;ExcessHet=0;FS=2.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.658;SOR=0.466	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	9	0	1	0
chr5	13737270	13737270	G	A	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon66:c.C11437T:p.R3813W	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1512	9	1	0	11	0.00362438	.	.	.	229247	not_specified|not_provided|Primary_ciliary_dyskinesia_3|Primary_ciliary_dyskinesia|DNAH5-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.817	0.0761357794629	0.0017	0.000399361	0.0015	0.0006	0.0002	0	0	0.0024	0.0033	0.0007	0.0013971	216	154602	rs140948493	0.0015	0.0015	0.0015	0.0014	0.0016	0.0014	0.0014	0.0016	0.0016	0.0005	0.0004	0.0034	7.557e-05	0.0004	0.0009	0.0016	0.0018	0.0007	0.0011	0.0011	0.0012	0.0010	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0	0.0010	0.0040	0.0002	0	0	0.0017	0.0024	0.0006	0.003	0.68238	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.67	0.99414	H	0.55	0.54728	T	-7.06	0.93879	D	0.971	0.98167	0.611	0.92040	D	0.580	0.84898	D	10	0.31398964	0.48844	T	0.076136	0.72457	D	0.817	0.94123	.	.	0.875734566224	0.87452	0.8775822651991114	0.87725	0.344227870731	0.36350	0.769668221474	0.77375	T	0.780787	0.94211	D	-0.021285	0.48669	T	0.183419	0.82191	D	0.149819801242789	0.17089	T	0.989301	0.96450	D	0.77637196	0.82432	0.66963506	0.80619	0.77637196	0.82433	0.66963506	0.80620	-13.45	0.91131	D	0.6801911131535268	0.75647	0.655	0.71136	P	.	.	4.246224	0.64416	24.7	0.99889381502311902	0.96359	0.96614	0.70026	D	AEFDI	0.795837	0.72314	D	0.929949721782846	0.93148	11.85168	0.778632072357556	0.88271	9.519996	0.944380329058031	0.27613	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.44	4.56	0.55644	4.487000	0.60022	4.419000	0.43309	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8601:0.1399	15.439	0.74892	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	573.43	33	chr5	13737270	.	G	A	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.64;SOR=0.709	GT:AD:DP:GQ:PL	0/1:32,23:55:99:585,0,753	9	0	1	0
chr5	13900212	13900212	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon15:c.C2253A:p.N751K	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1448	72	2	0	76	0.025572	.	.	.	173703	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0042	0.00798722	0.0102	0.0008	0.0052	0.0028	0.0038	0.0071	0.0088	0.0385	0.0093401	1444	154602	rs115004914	0.0073	0.0074	0.0061	0.0085	0.0410	0.0072	0.0071	0.0380	0.0376	0.0018	0.0054	0.0136	0.0011	0.0030	0.0410	0.0050	0.0092	0.0391	0.0052	0.0052	0.0046	0.0057	0.0332	0.0049	0.0047	0.0290	0.0274	0.0009	0	0.0077	0.0135	0.0023	0.0012	0.0306	0.0056	0.0057	0.0332	0.981	0.02004	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.032430	0.25031	N	0.480603	0.849946	0.28511	N	-0.085	0.04774	N	0.49	0.55775	T	-0.59	0.17624	N	0.158	0.16447	-1.0150	0.25336	T	0.041	0.17657	T	10	0.0028903186	0.00046	T	.	.	.	0.084	0.24469	0.578	0.70347	.	.	0.20929337985335666	0.20845	0.340553000604	0.35994	0.36459928751	0.20054	T	0.045103	0.27019	T	-0.633746	0.00091	T	-0.654541	0.08639	T	0.0114647865171174	0.00172	T	0.562444	0.19755	T	0.05629839	0.11056	0.061138283	0.11758	0.05629839	0.11056	0.061138283	0.11758	-4.293	0.28079	T	0.05614227209307895	0.01287	0.138	0.30184	B	.	.	2.011412	0.25557	16.81	0.72565165752983651	0.10018	0.65932	0.32904	D	AEFI	0.117440	0.23006	N	-0.638735665786539	0.17789	0.9183943	-0.443612577236373	0.23731	1.295656	0.813525907050886	0.24398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.29	0.20717	0.655000	0.24618	2.679000	0.34003	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.3395:0.0:0.4694:0.1911	5.168	0.14421	754	0.51307	Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.046828	0.060606	0.057065	0.026316	0.100000	0.086207	0.021341	0.034091	0.1	4733.14	35	chr5	13900212	.	G	T	4733.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.078;DP=698;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=2.15;SOR=0.713	GT:AD:DP:GQ:PL	0/1:107,102:209:99:2308,0,2638	8	0	2	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	197.37	36	chr5	14397101	.	T	C	197.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.932;DP=587;ExcessHet=0.2348;FS=142.763;InbreedingCoeff=-0.143;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.338;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,15:92:93:0|1:14397101_T_C:93,0,1817:14397101	7	0	2	1
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	108.68	36	chr5	14397102	.	G	A	108.68	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.397;DP=595;ExcessHet=0;FS=179.227;InbreedingCoeff=-0.0688;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.362;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:79,13:92:67:0|1:14397101_T_C:0,67,2932:14397101	9	0	1	0
chr5	14461030	14461030	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon35:c.G5215A:p.V1739I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0152440388558	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315846530	4.221e-06	8.893e-06	5.558e-06	2.85e-06	3.114e-05	1.52e-06	1e-06	4.1e-06	1.53e-06	3.114e-05	2.42e-05	0	0	0	0	1.835e-06	0	2.47e-05	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.349	0.12345	T	0.067	0.44302	T	0.954	0.54400	P	0.236	0.38470	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.125	0.59049	M	-0.16	0.65378	T	-0.45	0.14782	N	0.423	0.46274	-0.6412	0.63095	T	0.285	0.65734	T	10	0.32944855	0.50198	T	0.015244	0.35857	T	0.232	0.53354	0.128	0.03331	0.709050542064	0.70651	0.11387519030536801	0.11315	0.677898423499	0.59851	0.739964962006	0.72968	T	0.050764	0.28689	T	0.0175368	0.54049	T	-0.212586	0.53447	T	0.649024128913879	0.38420	D	0.965303	0.90777	D	0.13464284	0.31275	0.09735222	0.23168	0.13464284	0.31275	0.09735222	0.23168	-4.252	0.27499	T	0.25433035355670397	0.34397	0.201	0.42506	B	.;.;.	.;.;.	4.232045	0.64097	24.7	0.99795950589841897	0.88106	0.99546	0.97297	D	AEFDGBIJ	0.900333	0.84573	D	0.516130514747529	0.68044	5.163205	0.595227305473075	0.74597	6.16416	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	9.858000	0.98409	8.353000	0.77016	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.379000	0.26312	0.0:0.0:1.0:0.0	19.088	0.93195	794	0.45591	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	777.43	34	chr5	14461030	.	G	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=414;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=1.38;SOR=0.919	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	9	0	1	0
chr5	16676138	16676138	G	A	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon34:c.C4559T:p.S1520L	.	437	1066	19	0	0	19	0.0088331	.	.	.	699001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0075	0.00379393	0.0083	0.0018	0.0029	0	0.0162	0.0100	0.0101	0.0104	0.0081823	1265	154602	rs61744227	0.0098	0.0098	0.0099	0.0098	0.0105	0.0097	0.0096	0.0102	0.0102	0.0010	0.0026	0.0154	0	0.0146	0.0050	0.0104	0.0091	0.0105	0.0074	0.0074	0.0070	0.0077	0.0114	0.0070	0.0069	0.0092	0.0090	0.0022	0.0011	0.0039	0.0164	0	0.0170	0.0034	0.0098	0.0043	0.0114	0.288	0.15098	T	0.322	0.30631	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.93	0.44065	T	-1.32	0.42384	N	0.232	0.26717	-1.0374	0.18109	T	0.044	0.18989	T	9	0.0017369092	0.00022	T	.	.	.	0.037	0.09474	.	.	0.306695030598	0.30287	0.34434791163501755	0.34348	0.158956117107	0.17935	0.385757118464	0.23070	T	0.029587	0.41255	T	-0.655944	0.00067	T	-0.705599	0.05525	T	0.00464057159125389	0.00050	T	0.914109	0.69400	D	0.07779695	0.17678	0.049733408	0.07660	0.07779695	0.17678	0.049733408	0.07660	-8.657	0.65464	D	.	.	0.057	0.03301	B	.;.;.;.	.;.;.;.	1.630669	0.20822	14.92	0.98931817611146089	0.48769	0.24064	0.22276	N	AEFDBI	0.191428	0.31862	N	-0.728616144975346	0.15220	0.7651713	-0.655040653138761	0.18089	0.9648197	0.999991440263865	0.74766	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.31	3.27	0.36580	1.956000	0.40007	3.904000	0.40368	0.676000	0.76740	0.016000	0.19238	0.727000	0.26391	0.990000	0.65344	0.1845:0.1421:0.6734:0.0	6.361	0.20630	757	0.50970	.;.;.;.	.	.	.	.	rs61744227	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.001359	0.011696	0.000000	0.000000	0.006098	0.026515	0.1	4485.12	39	chr5	16676138	.	G	A	4485.12	.	AC=2;AF=0.1;AN=20;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.1;SOR=0.881	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	1	0	0
chr5	16701687	16701687	A	G	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon25:c.T2708C:p.M903T	.	424	1053	43	2	0	47	0.02183	.	.	.	721367	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0067	0.00559105	0.0087	0.0013	0.0033	0	0.0154	0.0095	0.0125	0.0155	0.0083893	1297	154602	rs112696559	0.0090	0.0090	0.0088	0.0092	0.0163	0.0089	0.0088	0.0156	0.0153	0.0011	0.0030	0.0128	0	0.0134	0.0116	0.0089	0.0086	0.0163	0.0069	0.0069	0.0065	0.0073	0.0135	0.0065	0.0064	0.0108	0.0099	0.0019	0	0.0048	0.0135	0.0004	0.0166	0.0068	0.0087	0.0057	0.0135	0.4	0.13610	T	0.554	0.18449	T	0.023	0.18885	B	0.006	0.12133	B	.	.	.	.	0.964229	0.28599	N	0.69	0.16971	N	3.74	0.03951	T	-0.92	0.24676	N	0.378	0.41952	-0.9571	0.39717	T	0.006	0.02168	T	9	0.0068617463	0.00156	T	.	.	.	0.058	0.16647	.	.	0.194818534648	0.19098	0.22097497657065052	0.22012	0.21400552023	0.23928	0.455447763205	0.32688	T	0.021735	0.35061	T	-0.542244	0.00325	T	-0.538047	0.18489	T	0.00228667530795449	0.00024	T	0.79692	0.45144	T	0.126287	0.29583	0.11764603	0.28399	0.126287	0.29583	0.11764603	0.28398	-4.884	0.35555	T	.	.	0.386	0.58768	A	.;.;.;.	.;.;.;.	2.563368	0.33199	19.27	0.81753118547958681	0.13842	0.94846	0.62532	D	AEFBI	0.535976	0.55438	D	-0.555200458049924	0.20321	1.070366	-0.3518589487953	0.26451	1.461131	0.999976648366733	0.50053	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.0	3.82	0.43153	3.747000	0.54853	3.430000	0.38309	-0.095000	0.16041	1.000000	0.71638	0.989000	0.31174	0.980000	0.58198	0.7044:0.1512:0.0:0.1444	7.293	0.25554	814	0.42100	Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain;Unconventional myosin-X, coiled coil domain	.	.	.	.	rs112696559	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.002717	0.011696	0.000000	0.000000	0.009146	0.034091	0.1	3277.12	38	chr5	16701687	.	A	G	3277.12	.	AC=2;AF=0.1;AN=20;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.07;SOR=0.912	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,114,1710	9	1	0	0
chr5	16711202	16711202	C	T	exonic	MYO10	.	nonsynonymous SNV	MYO10:NM_012334:exon20:c.G1973A:p.R658Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.169617373823	8.3e-05	.	4.276e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs375527129	3.422e-05	3.42e-05	2.996e-05	3.853e-05	0.0002	2.633e-05	2.376e-05	4.586e-05	3.278e-05	5.975e-05	8.959e-05	0	2.52e-05	1.874e-05	0.0002	2.789e-05	3.314e-05	9.293e-05	1.972e-05	1.971e-05	1.285e-05	2.692e-05	0.0002	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.062	0.45318	T	0.966	0.56202	D	0.757	0.56292	P	.	.	.	.	0.999985	0.81001	D	2.38	0.68558	M	-2.25	0.87272	D	-3.1	0.67705	D	0.785	0.78167	0.620	0.92156	D	0.740	0.91105	D	9	0.7279956	0.74104	D	0.169617	0.84740	D	0.743	0.91112	.	.	0.861668090824	0.86033	0.6937109172877793	0.69312	0.315729416879	0.33850	0.546995401382	0.45433	T	0.223343	0.87849	T	0.0568224	0.59213	T	0.12328	0.78453	D	0.72850239276886	0.42132	D	0.981602	0.93790	D	0.5541385	0.70186	0.71197957	0.83007	0.5541385	0.70187	0.71197957	0.83008	-8.665	0.65517	D	.	.	0.155	0.47360	B	.;.;.	.;.;.	5.332591	0.89486	30	0.99956906423829683	0.99981	0.96310	0.68515	D	AEFDGBI	0.596172	0.59044	D	0.622561948521727	0.74602	6.160872	0.587763422607484	0.74062	6.073496	0.999999998729983	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.26	4.19	0.48645	4.136000	0.57766	4.802000	0.44976	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.996000	0.76049	0.0:0.9181:0.0:0.0819	14.733	0.69016	850	0.35610	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class X myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class X myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class X myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	586.43	39	chr5	16711202	.	C	T	586.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.597;SOR=0.702	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1275	9	0	1	0
chr5	23526806	23526806	T	G	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.T1718G:p.I573R,PRDM9:NM_001376900:exon11:c.T1718G:p.I573R,PRDM9:NM_020227:exon11:c.T1718G:p.I573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00211239582162	.	.	0.0005	0.0005	0.0006	0	0.0005	0.0005	0.0011	0.0004	0.000401	62	154602	rs199686868	0.0006	0.0013	0.0006	0.0006	0.0009	0.0006	0.0005	0.0007	0.0006	0.0006	0.0009	0.0015	0.0001	0.0005	0	0.0006	0.0007	0.0003	0.0018	0.0075	0.0020	0.0016	0.0019	0.0016	0.0015	0.0013	0.0012	0.0012	0.0824	0.0010	0.0004	0.0007	0.0015	0.0082	0.0016	0.0021	0.0019	0.011	0.55530	D	0.03	0.54159	D	0.007	0.14184	B	0.026	0.20792	B	0.082442	0.20808	N	0.249761	0.976666	0.25360	N	0.595	0.15482	N	3.18	0.07478	T	-0.32	0.12283	N	0.257	0.29081	-1.0062	0.28095	T	0.018	0.07329	T	10	0.0076250136	0.00173	T	0.002112	0.03908	T	0.039	0.10176	.	.	0.132336055621	0.12781	0.03216963226352868	0.03164	0.222549293773	0.24789	0.508551239967	0.40019	T	0.046814	0.27536	T	-0.552252	0.00283	T	-0.645309	0.09286	T	0.0113529475240062	0.00169	T	0.833717	0.50261	T	0.08483214	0.19653	0.10641779	0.25601	0.08483214	0.19653	0.10641779	0.25601	-2.891	0.09054	T	.	.	0.180	0.39237	B	.	.	1.265851	0.16643	12.67	0.96848628780123192	0.31331	0.05189	0.11010	N	AEFDGI	0.087736	0.17789	N	-0.897252205779945	0.10907	0.5236006	-0.894074810430658	0.12234	0.6280983	0.00794060661485853	0.11575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.31	1.41	0.21461	-0.883000	0.04278	-0.626000	0.08149	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.0:0.5362:0.0:0.4638	5.065	0.13914	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3402.43	37	chr5	23526806	.	T	G	3402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=548;ExcessHet=0;FS=3.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.41;MQRankSum=-1.298;QD=15.75;ReadPosRankSum=2.72;SOR=0.535	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1267:.	9	0	1	0
chr5	23526890	23526890	C	G	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C1802G:p.T601R,PRDM9:NM_001376900:exon11:c.C1802G:p.T601R,PRDM9:NM_020227:exon11:c.C1802G:p.T601R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.00146284837441	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs766459090	1.793e-05	7.459e-05	1.921e-05	1.663e-05	0.0002	1.248e-05	1.06e-05	8.465e-05	5.991e-05	0.0001	0	0	0.0002	0	0.0002	1.176e-05	0	1.168e-05	0.0005	0.0012	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0005	0.0008	0	0.0006	0	0	0.0007	0	0.0003	0.0012	0.0006	0.012	0.54683	D	0.009	0.66756	D	0.947	0.53479	P	0.871	0.61869	P	0.038125	0.24320	N	0.205033	0.991926	0.23962	N	0.915	0.23335	L	3.17	0.07599	T	-4.28	0.76334	D	0.256	0.28965	-1.1192	0.02383	T	0.036	0.15509	T	10	0.2108686	0.37495	T	0.001463	0.02215	T	0.123	0.34020	0.644	0.78117	0.316198179892	0.31222	0.0402689973279511	0.03972	0.534207440331	0.50835	0.550323724747	0.45903	T	0.250425	0.62052	T	-0.380659	0.03086	T	-0.536258	0.18666	T	0.413202106952667	0.29437	T	0.0387961	0.00268	T	0.29918373	0.52832	0.2667037	0.52519	0.29918373	0.52832	0.2667037	0.52518	-4.26	0.27612	T	.	.	0.171	0.37596	B	.	.	2.251948	0.28762	17.90	0.99042018764070427	0.51051	0.09414	0.15175	N	AEFGI	0.095363	0.19268	N	-0.0575804674260153	0.39265	2.312661	-0.227890352848436	0.30541	1.720494	0.00173103695234233	0.08818	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.19	2.19	0.26890	-1.117000	0.03394	-1.683000	0.04922	0.589000	0.31548	0.000000	0.06391	0.001000	0.17328	0.492000	0.28837	0.0:0.8206:0.0:0.1794	4.824	0.12772	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	411.43	37	chr5	23526890	.	C	G	411.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=465;ExcessHet=0;FS=7.407;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.29;MQRankSum=0.456;QD=3.19;ReadPosRankSum=-4.73;SOR=1.491	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1267	9	0	1	0
chr5	23527360	23527360	C	A	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.C2272A:p.R758S,PRDM9:NM_001376900:exon11:c.C2272A:p.R758S,PRDM9:NM_020227:exon11:c.C2272A:p.R758S	.	439	1075	7	1	0	9	0.0041686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.0157748	7.574e-05	0.0009	0	0	0	0	0	6.089e-05	0.0009573	148	154602	rs112501567	0.0007	0.0021	0.0006	0.0008	0.0035	0.0006	0.0006	0.0029	0.0026	0.0035	0.0014	0.0022	0.0014	0.0004	0.0028	0.0004	0.0013	0.0018	0.0014	0.0020	0.0014	0.0013	0.0026	0.0011	0.0010	0.0010	0.0009	0.0018	0	0.0016	0	0	0.0011	0	0.0014	0	0.0026	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.15	0.00907	N	1.3	0.35590	T	1.49	0.00747	N	0.044	0.01658	-1.0171	0.24657	T	0.001	0.00438	T	8	0.0039440393	0.00076	T	.	.	.	0.031	0.07369	.	.	0.0611884634855	0.05136	0.03481781596185732	0.03428	0.139674272888	0.15743	0.465482741594	0.34061	T	0.019719	0.15658	T	-0.709207	0.00032	T	-0.765043	0.02935	T	0.00023669731066395	0.00001	T	0.0772923	0.00570	T	0.47630665	0.65676	0.09665705	0.22975	0.47630665	0.65676	0.09665705	0.22975	-0.271	0.00460	T	.	.	0.281	0.51367	B	.	.	0.532115	0.09008	5.790	0.55493317965200339	0.05354	0.00050	0.00389	N	AEFDGBIJ	0.017414	0.00455	N	-1.36982181412534	0.02925	0.1298806	-1.37235076037868	0.03549	0.1657935	0.307357789252236	0.19251	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.65	2.65	0.30588	0.907000	0.28154	-2.751000	0.03399	-0.767000	0.03477	0.016000	0.19238	0.000000	0.08366	0.001000	0.02609	0.534:0.2366:0.0:0.2294	3.486	0.07182	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016437	0.015306	0.013587	0.020492	0.050000	0.025862	0.024540	0.003817	0.05	125.43	146	chr5	23527360	.	C	A	125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=1268;ExcessHet=0;FS=10.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.27;MQRankSum=-4.745;QD=1.12;ReadPosRankSum=-0.898;SOR=2.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:100,0:100:99:.:.:0,120,1800:.	9	0	1	0
chr5	23527383	23527383	-	CACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT	exonic	PRDM9	.	nonframeshift insertion	PRDM9:NM_001310214:exon11:c.2295_2296insCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT:p.S789_N790insHLLSHQRTHTGEKPYVCRECGRGFRDKS,PRDM9:NM_001376900:exon11:c.2295_2296insCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT:p.S789_N790insHLLSHQRTHTGEKPYVCRECGRGFRDKS,PRDM9:NM_020227:exon11:c.2295_2296insCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT:p.S789_N790insHLLSHQRTHTGEKPYVCRECGRGFRDKS	.	430	1069	8	1	14	24	0.00465549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0031	0.0002	0.0001	0	0.0002	0	0	6.5e-06	1	154602	.	0.0007	0.0025	0.0007	0.0007	0.0069	0.0006	0.0006	0.0050	0.0044	0.0041	0.0016	0.0018	0.0028	0.0003	0.0069	0.0004	0.0014	0.0008	0.0002	0.0032	0.0002	0.0002	0.0004	0.0001	7.705e-05	0.0001	8.887e-05	0.0004	0	0.0004	0	0	0.0003	0	9.923e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1202.39	146	chr5	23527383	.	A	ACACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT	1202.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=1264;ExcessHet=0;FS=2.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.41;MQRankSum=-2.994;QD=21.09;ReadPosRankSum=-0.071;SOR=1.387	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	9	0	1	0
chr5	32058056	32058056	C	A	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon12:c.C2153A:p.T718N	.	433	1072	17	0	0	17	0.00786673	.	.	.	3210879	PDZD2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.052	0.014107825277	0.0033	0.00239617	0.0038	0.0015	0.0023	0	0.0014	0.0057	0.0056	0.0017	0.0038098	589	154602	rs144128749	0.0045	0.0045	0.0044	0.0045	0.0116	0.0044	0.0043	0.0094	0.0086	0.0008	0.0027	0.0118	0	0.0009	0.0116	0.0050	0.0047	0.0015	0.0030	0.0031	0.0031	0.0030	0.0049	0.0028	0.0027	0.0044	0.0043	0.0007	0	0.0029	0.0081	0	0.0009	0.0272	0.0049	0.0062	0.0006	0.005	0.63226	D	0.015	0.61642	D	0.497	0.37095	P	0.062	0.26930	B	0.136123	0.18457	N	0.457372	0.99797	0.22416	N	0.345	0.11182	N	2.29	0.17113	T	-0.42	0.14193	N	0.134	0.13055	-0.9806	0.34863	T	0.011	0.03996	T	10	0.0044118166	0.00090	T	0.014108	0.34004	T	0.052	0.14661	.	.	0.151262610727	0.14761	0.3313073341527466	0.33043	0.603591821833	0.55329	0.427487999201	0.28865	T	0.035208	0.23629	T	-0.65174	0.00071	T	-0.699561	0.05849	T	0.0190694285831941	0.00615	T	0.812119	0.46368	T	0.11684574	0.27553	0.07916186	0.17797	0.11684574	0.27553	0.07916186	0.17796	-5.05	0.37378	T	.	.	0.105	0.19194	B	.	.	2.452986	0.31592	18.79	0.88667022897774284	0.18158	0.78531	0.38758	D	AEFGBHCI	0.336271	0.43444	N	-0.612418730729325	0.18570	0.9651757	-0.470803913504755	0.22963	1.249855	0.999997873605003	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.638833	0.57524	0	.	.	6.06	2.25	0.27340	2.988000	0.49074	1.925000	0.29735	0.530000	0.24713	0.999000	0.42656	0.999000	0.35428	0.978000	0.57271	0.0:0.486:0.2483:0.2658	5.433	0.15763	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.020202	0.010870	0.011696	0.000000	0.060345	0.006098	0.011364	0.05	479.43	34	chr5	32058056	.	C	A	479.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=395;ExcessHet=0;FS=2.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=1.62;SOR=1.182	GT:AD:DP:GQ:PL	0/1:32,22:54:99:491,0,793	9	0	1	0
chr5	32074045	32074045	G	C	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon18:c.G2939C:p.G980A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00818661637264	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs751864518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.032	0.53426	D	0.952	0.54136	P	0.368	0.43478	B	0.412452	0.12978	N	0.697167	1	0.08975	N	2.175	0.60977	M	3.16	0.07711	T	-2.5	0.54382	D	0.092	0.07125	-0.9985	0.30339	T	0.018	0.07518	T	10	0.1282404	0.24393	T	0.008187	0.21700	T	0.040	0.10527	.	.	0.351146185902	0.34720	0.22408930978556213	0.22323	0.53408203819	0.50830	0.298408329487	0.10165	T	0.250893	0.62106	T	-0.286187	0.10021	T	-0.648864	0.09034	T	0.571346163749695	0.35286	D	0.59804	0.22252	T	0.08764286	0.20418	0.11369934	0.27442	0.08764286	0.20417	0.11369934	0.27441	-3.839	0.21388	T	.	.	0.110	0.21163	B	.	.	1.975734	0.25099	16.64	0.98302064691583824	0.40058	0.53691	0.29433	D	AEFGBI	0.105445	0.21069	N	-0.411892288687503	0.25051	1.357085	-0.374999578545715	0.25745	1.417667	0.958565693491427	0.28371	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.78	3.02	0.33970	1.431000	0.34534	3.472000	0.38588	-0.105000	0.15698	0.901000	0.31451	0.999000	0.35428	0.834000	0.39329	0.1524:0.2851:0.5624:0.0	6.412	0.20901	703	0.57489	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1829.43	34	chr5	32074045	.	G	C	1829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=479;ExcessHet=0;FS=1.956;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.646;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	9	0	1	0
chr5	32074423	32074423	C	T	exonic	PDZD2	.	nonsynonymous SNV	PDZD2:NM_178140:exon18:c.C3317T:p.S1106F	.	421	1057	43	1	0	45	0.020843	.	.	.	3191459	PDZD2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.078	.	0.0074	0.00678914	0.0096	0.0089	0.0069	0.0002	0.0240	0.0111	0.0166	0.0049	0.008952	1384	154602	rs34748216	0.0085	0.0085	0.0084	0.0086	0.0414	0.0084	0.0083	0.0371	0.0355	0.0093	0.0064	0.0062	5.038e-05	0.0224	0.0414	0.0083	0.0106	0.0045	0.0089	0.0089	0.0086	0.0092	0.0090	0.0085	0.0084	0.0084	0.0082	0.0079	0	0.0065	0.0072	0.0004	0.0216	0.0544	0.0090	0.0132	0.0033	0.012	0.54683	D	0.013	0.63109	D	0.845	0.46707	P	0.311	0.41430	B	0.365314	0.13608	N	0.648510	0.999998	0.08975	N	1.975	0.53506	M	3.12	0.08106	T	-2.5	0.54382	D	0.296	0.33469	-1.0707	0.09260	T	0.016	0.06473	T	10	0.0035271943	0.00063	T	.	.	.	0.078	0.22779	.	.	0.123314135267	0.11883	0.11458039120919956	0.11386	0.343199462027	0.36250	0.265013664961	0.05502	T	0.075126	0.35104	T	-0.573897	0.00210	T	-0.589178	0.13737	T	0.0327796637201436	0.02435	T	0.611339	0.23205	T	0.09126352	0.21379	0.13509504	0.32356	0.09126352	0.21379	0.13509504	0.32355	-6.056	0.46745	T	.	.	0.111	0.21691	B	.	.	2.465194	0.31763	18.84	0.99687572782539791	0.79708	0.10438	0.15945	N	AEFGBI	0.082468	0.16699	N	-0.258033236153152	0.30784	1.719747	-0.353795987390985	0.26392	1.457449	0.999968663606162	0.48965	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.567892	0.33627	0	.	.	5.67	4.81	0.61401	2.071000	0.41125	0.100000	0.14636	0.599000	0.40250	0.011000	0.18532	0.000000	0.08366	0.066000	0.16387	0.0:0.9194:0.0:0.0806	12.568	0.55668	704	0.57414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.043807	0.040404	0.055707	0.055556	0.100000	0.094828	0.024390	0.003788	0.05	1147.43	34	chr5	32074423	.	C	T	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.35;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-0.841;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1159,0,1232	9	0	1	0
chr5	33576511	33576511	C	T	exonic	ADAMTS12	.	nonsynonymous SNV	ADAMTS12:NM_001324512:exon17:c.G3260A:p.S1087N,ADAMTS12:NM_030955:exon19:c.G3515A:p.S1172N	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00747581967808	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328464475	4.112e-06	4.104e-06	1.364e-06	6.889e-06	0.0003	1.48e-06	9.7e-07	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	2.701e-06	0	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.07846	T	0.515	0.10643	T	0.0	0.07471	B	0.001	0.10090	B	0.432705	0.12728	N	0.764469	1	0.08975	N	0.14	0.08730	N	0.33	0.58613	T	-0.61	0.18042	N	0.042	0.03175	-1.0268	0.21494	T	0.066	0.27121	T	10	0.037249774	0.02068	T	0.007476	0.19846	T	0.021	0.04004	0.156	0.05964	0.386395597597	0.38251	0.16334407868791126	0.16254	0.135519138639	0.15275	0.291556358337	0.09149	T	0.044152	0.26727	T	-0.3125	0.07530	T	-0.686661	0.06585	T	0.0116857485845685	0.00179	T	0.481652	0.14579	T	0.042792626	0.06553	0.0453785	0.06091	0.042792626	0.06553	0.0453785	0.06091	-3.629	0.19156	T	.	.	0.054	0.01059	B	.;.	.;.	-0.294463	0.02641	0.334	0.50956463067713242	0.04476	0.01373	0.04685	N	AEFBI	0.038814	0.05549	N	-1.35283086802578	0.03096	0.1377473	-1.31572601383802	0.04226	0.1989171	0.638471793610344	0.22031	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.28	-0.802	0.10340	-0.213000	0.09309	0.042000	0.13882	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.1403:0.2255:0.0:0.6342	6.027	0.18888	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	3568.43	35	chr5	33576511	.	C	T	3568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.912;DP=563;ExcessHet=0;FS=2.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=0.316;SOR=0.853	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	9	0	1	0
chr5	33643454	33643454	A	T	exonic	ADAMTS12	.	nonsynonymous SNV	ADAMTS12:NM_001324512:exon10:c.T1496A:p.L499Q,ADAMTS12:NM_030955:exon10:c.T1496A:p.L499Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.116430654372	0.0024	0.00179712	0.0023	0.0005	0.0009	0	0.0029	0.0035	0.0044	0.0003	0.0022768	352	154602	rs61753558	0.0023	0.0023	0.0022	0.0023	0.0025	0.0022	0.0022	0.0024	0.0024	0.0003	0.0014	0.0053	0	0.0022	0.0016	0.0025	0.0027	0.0005	0.0023	0.0023	0.0023	0.0023	0.0037	0.0021	0.0020	0.0034	0.0032	0.0003	0	0.0015	0.0066	0.0002	0.0024	0	0.0037	0.0028	0.0012	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	0.999868	0.50061	D	4.155	0.97600	H	-0.44	0.69777	T	-5.27	0.84882	D	0.92	0.92317	0.328	0.87993	D	0.516	0.81869	D	10	0.08228898	0.13565	T	0.116431	0.79592	D	0.805	0.93660	.	.	0.904685542141	0.90373	0.9318090597597621	0.93159	0.654802155961	0.58547	0.708671867847	0.68401	T	0.505594	0.82416	D	0.075206	0.61475	D	0.336205	0.89762	D	0.135114829712475	0.15846	T	0.96937	0.91493	D	0.9226822	0.93509	0.89421654	0.94566	0.9226822	0.93510	0.89421654	0.94566	-13.679	0.93108	D	.	.	0.975	0.90205	P	.;.	.;.	4.871679	0.79818	27.2	0.99288563900625548	0.58184	0.99190	0.92559	D	AEFGBI	0.931258	0.91980	D	0.909787100098728	0.92232	11.30592	0.826238563450125	0.91555	10.94668	0.999999999999941	0.74766	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.57	5.57	0.84021	9.102000	0.93579	11.199000	0.88958	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	15.724	0.77506	855	0.34697	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1971.43	79	chr5	33643454	.	A	T	1971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.947;DP=778;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.52;SOR=0.585	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	9	0	1	0
chr5	33947272	33947272	T	C	exonic	SLC45A2	.	nonsynonymous SNV	SLC45A2:NM_001012509:exon6:c.A1259G:p.N420S,SLC45A2:NM_016180:exon6:c.A1259G:p.N420S	Albinism, oculocutaneous, type IV	0	1521	1	0	0	1	0.000328623	.	.	.	1900102	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.352	0.105399602678	.	.	2.471e-05	0	8.639e-05	0	0	1.498e-05	0	6.056e-05	1.94e-05	3	154602	rs747149385	3.01e-05	3.01e-05	2.722e-05	3.3e-05	0.0003	2.281e-05	2.032e-05	6.092e-05	2.767e-05	0	0.0001	0	0	0	0.0003	2.338e-05	6.623e-05	8.115e-05	2.629e-05	2.627e-05	5.14e-05	0	6.549e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.549e-05	0	0	0	0	4.41e-05	0	0	0.111	0.43085	T	0.097	0.44702	T	0.022	0.35540	B	0.034	0.39041	B	0.000024	0.55875	D	0.185631	0.999945	0.51968	D	1.465	0.36909	L	-3.67	0.95247	D	-1.56	0.62343	N	0.559	0.58373	0.134	0.84776	D	0.716	0.90239	D	10	0.33690852	0.50822	T	0.105	0.78049	D	0.352	0.67326	0.525	0.62967	0.946826179558	0.94626	0.5358164638390676	0.53506	0.0364196431978	0.03852	0.474712610245	0.35330	T	0.356711	0.72352	T	-0.137908	0.30222	T	-0.21017	0.53679	T	0.340211629867554	0.26632	T	0.855414	0.54290	D	0.08557857	0.19857	0.0919989	0.21658	0.08557857	0.19857	0.0919989	0.21657	-3.874	0.25892	T	0.16023554538392695	0.19535	0.068	0.07412	B	.;.;.	.;.;.	2.353175	0.30169	18.35	0.99250970519127668	0.56858	0.95858	0.66456	D	AEFBI	0.704218	0.66000	D	-0.327941972319369	0.28090	1.546549	-0.242254591782244	0.30039	1.687959	0.999999718843654	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.62	4.46	0.53567	4.948000	0.63290	2.927000	0.35595	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.906000	0.44173	0.0:0.0716:0.0:0.9284	11.236	0.48172	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2086.43	34	chr5	33947272	.	T	C	2086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=524;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=0.54;SOR=0.697	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1131	9	0	1	0
chr5	35047876	35047876	C	T	exonic	AGXT2	.	nonsynonymous SNV	AGXT2:NM_001306173:exon1:c.G17A:p.R6K,AGXT2:NM_031900:exon1:c.G17A:p.R6K	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.015701473215	7.7e-05	0.00179712	0.0011	0	0	0.0001	0	0.0002	0	0.0073	0.000912	141	154602	rs148595824	0.0005	0.0005	0.0003	0.0007	0.0069	0.0005	0.0005	0.0065	0.0063	0	0	3.826e-05	2.519e-05	1.872e-05	0.0017	0.0001	0.0005	0.0069	0.0003	0.0003	0.0002	0.0005	0.0085	0.0003	0.0002	0.0064	0.0057	0	0	6.539e-05	0	0.0002	0	0	0.0001	0	0.0085	0.038	0.43708	D	0.208	0.31125	T	0.162	0.28404	B	0.064	0.27215	B	0.004219	0.01012	N	2.892700	0.997093	0.22793	N	1.87	0.49600	L	-1.56	0.81815	D	-0.29	0.11728	N	0.431	0.51583	-0.5644	0.66235	T	0.382	0.73825	T	10	0.0059773624	0.00134	T	0.015701	0.36577	T	0.333	0.65522	.	.	0.782165406582	0.78015	0.322553307880973	0.32168	0.146745363841	0.16562	0.445568025112	0.31339	T	0.045539	0.27154	T	-0.321247	0.06797	T	-0.231057	0.51669	T	0.0670659290829569	0.08232	T	0.684632	0.29288	T	0.13571618	0.31488	0.14289369	0.33979	0.13571618	0.31488	0.14289369	0.33978	-3.912	0.22482	T	.	.	0.096	0.20235	B	.;.;.	.;.;.	2.548594	0.32983	19.21	0.98637607331916888	0.44001	0.72566	0.35514	D	AEFBHCI	0.357579	0.44856	N	-0.0792050083367159	0.38306	2.241472	0.0201629321064039	0.40651	2.429554	0.986015260477996	0.30989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.58	3.58	0.40133	1.707000	0.37507	2.697000	0.34132	0.599000	0.40250	0.984000	0.35821	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	10.996	0.46795	813	0.42397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1600.43	35	chr5	35047876	.	C	T	1600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=468;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-1.301;SOR=0.781	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr5	35876422	35876422	C	G	exonic	IL7R	.	nonsynonymous SNV	IL7R:NM_002185:exon8:c.C1316G:p.T439S	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	721440	Immunodeficiency_104	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.00974582969322	0.0002	0.000199681	0.0004	0.0002	0.0005	0	0	0.0005	0.0011	0.0005	0.0003881	60	154602	rs148931962	0.0003	0.0003	0.0003	0.0003	0.0052	0.0003	0.0003	0.0037	0.0032	2.987e-05	0.0005	0	0	0	0.0052	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0002	0.0006	0.0005	0.0001	0	0.0010	0	0	0	0.0102	0.0004	0.0009	0.0004	0.41	0.10148	T	0.663	0.06448	T	0.024	0.19075	B	0.005	0.11217	B	0.840524	0.09037	N	0.933160	1	0.30258	N	1.095	0.27400	L	1.83	0.24841	T	-0.25	0.11008	N	0.05	0.02179	-0.9711	0.36967	T	0.103	0.37969	T	10	0.025248855	0.00725	T	0.009746	0.25449	T	0.113	0.31778	0.59	0.71874	0.491317756052	0.48765	0.33545629895792106	0.33458	0.0165124899938	0.01591	0.342507779598	0.16813	T	0.145413	0.48253	T	-0.446732	0.01180	T	-0.538927	0.18402	T	0.0183760260577019	0.00555	T	0.437256	0.12012	T	0.08174318	0.18799	0.048332345	0.07155	0.07035484	0.15490	0.052422184	0.08632	-2.977	0.09935	T	0.4053687355797069	0.49654	0.094	0.14568	B	.	.	0.845452	0.12176	8.721	0.89456034914060323	0.18812	0.08904	0.14761	N	AEFGBCI	0.061057	0.11646	N	-0.66506239173422	0.17023	0.8724526	-0.673575151583588	0.17623	0.937902	0.999998903750716	0.74766	0.653281	0.48532	0	0.616935	0.53198	0	0.573888	0.23631	0	0.669	0.65921	0	.	.	5.46	4.57	0.55860	0.426000	0.21081	1.775000	0.28667	0.599000	0.40250	0.049000	0.21372	0.277000	0.24084	0.082000	0.17360	0.0:0.8264:0.1736:0.0	12.068	0.52899	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1614.43	34	chr5	35876422	.	C	G	1614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.1;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=-0.583;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1211	9	0	1	0
chr5	36269438	36269438	G	A	exonic	RANBP3L	.	nonsynonymous SNV	RANBP3L:NM_001161429:exon4:c.C220T:p.R74W,RANBP3L:NM_001323273:exon4:c.C220T:p.R74W,RANBP3L:NM_001323274:exon4:c.C220T:p.R74W,RANBP3L:NM_001323277:exon4:c.C220T:p.R74W,RANBP3L:NM_001323279:exon4:c.C220T:p.R74W,RANBP3L:NM_145000:exon4:c.C220T:p.R74W	.	434	1085	3	0	0	3	0.00138058	.	.	.	3472298	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.0637294622383	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001358	21	154602	rs146572714	9.467e-05	0.0001	8.959e-05	9.977e-05	0.0023	8.158e-05	7.618e-05	0.0013	0.0011	6.067e-05	6.718e-05	0	7.586e-05	1.873e-05	0.0023	7.506e-05	0.0002	0.0002	9.858e-05	9.85e-05	8.995e-05	0.0001	0.0002	6.008e-05	4.881e-05	0.0001	7.895e-05	0	0	6.545e-05	0	0.0002	0	0.0032	0.0002	0	0	0.001	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	0.967	0.71530	D	0.003696	0.34611	N	0.196194	0.995979	0.23150	N	2.74	0.80084	M	-0.69	0.73311	T	-5.25	0.95045	D	0.536	0.57860	-0.3960	0.72153	T	0.509	0.81517	D	10	0.23324361	0.40338	T	0.063729	0.69060	D	0.289	0.60808	.	.	0.434716162284	0.43093	0.36396185831076283	0.36310	0.50988881724	0.49125	0.43246114254	0.29545	T	0.167752	0.51450	T	-0.17896	0.23891	T	-0.188864	0.55697	T	0.72623884677887	0.42016	D	0.963304	0.86380	D	0.3044398	0.53300	0.3089647	0.56913	0.3044398	0.53300	0.3089647	0.56912	-9.08	0.68210	D	.	.	0.229	0.54279	B	.;.;.;.	.;.;.;.	3.864475	0.56067	23.7	0.99889168503194559	0.96359	0.09037	0.14871	N	AEFI	0.155248	0.28041	N	0.138818652263138	0.48283	3.042537	-0.026191991251841	0.38535	2.271774	0.138156256392847	0.17221	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.66	1.13	0.19758	0.920000	0.28325	0.371000	0.17677	0.676000	0.76740	0.395000	0.26129	0.001000	0.17328	0.989000	0.64315	0.0:0.0:0.3576:0.6423	10.375	0.43260	612	0.66786	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.1	2741.14	40	chr5	36269438	.	G	A	2741.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.35;DP=500;ExcessHet=0.2348;FS=0.494;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.303;SOR=0.708	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1343,0,1180	8	0	2	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	57.27	114	chr5	36976312	.	G	C	57.27	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.656;DP=1135;ExcessHet=0.2348;FS=188.233;InbreedingCoeff=-0.2172;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.84;SOR=9.17	GT:AD:DP:GQ:PL	./.:100,0:100:0:0,0,1679	5	0	2	3
chr5	37183388	37183388	G	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_001384732:exon26:c.C4793A:p.T1598K,CPLANE1:NM_023073:exon26:c.C4793A:p.T1598K	.	1	1495	26	0	0	26	0.00862069	.	.	.	501350	Joubert_syndrome_17|CPLANE1-related_disorder|not_provided	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	0.0807419754689	0.0002	0.000998403	0.0016	0	0.0005	0	0	0.0011	0.0033	0.0068	0.0013583	210	154602	rs147588579	0.0009	0.0009	0.0008	0.0011	0.0142	0.0009	0.0009	0.0117	0.0108	0	0.0007	0.0078	5.046e-05	0	0.0142	0.0004	0.0014	0.0060	0.0007	0.0006	0.0006	0.0007	0.0056	0.0005	0.0005	0.0040	0.0034	4.816e-05	0	0.0005	0.0069	0	0	0.0034	0.0005	0.0024	0.0056	0.006	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	0.004142	0.34057	N	0.135348	0.999693	0.48338	D	.	.	.	-0.54	0.70950	T	-2.66	0.56945	D	0.604	0.62188	-0.1695	0.78440	T	0.403	0.75381	T	10	0.008908778	0.00202	T	0.080742	0.73527	D	0.372	0.69102	.	.	0.719862766231	0.71739	0.5803039146120949	0.57959	0.567737995331	0.53022	.	.	.	0.261604	0.63310	T	-0.221754	0.17756	T	-0.0888375	0.64248	T	0.0432307516442965	0.04280	T	0.70313	0.31322	T	0.37255535	0.58773	0.46635535	0.69036	0.3774249	0.59129	0.46336356	0.68847	-2.85	0.08653	T	0.7843215179378638	0.86376	0.260	0.54961	B	.;.;.	.;.;.	4.583986	0.72443	25.8	0.9920629401552864	0.55442	0.98763	0.86538	D	AEFDGBI	0.866011	0.78530	D	0.702834520102275	0.79819	7.158825	0.741159903415864	0.85495	8.597776	0.999999999955175	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	8.872000	0.91982	11.891000	0.99093	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.265	0.93969	139	0.94486	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.004076	0.008772	0.000000	0.008621	0.006098	0.007576	0.05	2114.43	34	chr5	37183388	.	G	T	2114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=502;ExcessHet=0;FS=2.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.523;SOR=0.661	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,99,1485	9	0	1	0
chr5	37333633	37333633	T	G	exonic	NUP155	.	nonsynonymous SNV	NUP155:NM_001278312:exon13:c.A1348C:p.M450L,NUP155:NM_004298:exon13:c.A1171C:p.M391L,NUP155:NM_153485:exon13:c.A1348C:p.M450L	.	.	.	.	.	.	.	.	0.0117	0.132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.36113	T	0.137	0.33894	T	0.016	0.20002	B	0.02	0.20792	B	0.000000	0.84330	D	0.036930	0.999971	0.53665	D	0.585	0.15399	N	1.02	0.40749	T	-0.75	0.21644	N	0.717	0.71942	-1.0539	0.13332	T	0.085	0.33099	T	10	0.4709562	0.59858	T	0.010798	0.27747	T	0.178	0.44724	0.463	0.53242	0.446108141197	0.44232	0.40837614357768665	0.40753	0.136873454913	0.15434	0.720158219337	0.70070	T	0.306785	0.67897	T	0.0419508	0.57301	T	-0.177517	0.56752	T	0.778524339199066	0.44959	D	0.914708	0.69569	D	0.21701255	0.44174	0.17242102	0.39496	0.21701255	0.44174	0.17242102	0.39495	-2.003	0.04153	T	.	.	0.162	0.38281	B	.;.;.	.;.;.	3.378159	0.46710	22.3	0.93209731230215165	0.22883	0.98791	0.86901	D	AEFBI	0.784376	0.71508	D	-0.165166989445453	0.34591	1.976	-0.00387198892159416	0.39541	2.345959	0.999974535101336	0.50053	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	5.925000	0.69783	7.726000	0.67550	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.620000	0.31896	0.0:0.0751:0.0:0.9249	10.058	0.41429	174	0.93268	Nucleoporin, Nup133/Nup155-like, N-terminal;.;Nucleoporin, Nup133/Nup155-like, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	429.43	39	chr5	37333633	.	T	G	429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.289;DP=335;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.831;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:90:.:.:0,90,1350:.	9	0	1	0
chr5	38407879	38407879	G	T	exonic	EGFLAM	.	nonsynonymous SNV	EGFLAM:NM_182798:exon4:c.G520T:p.A174S,EGFLAM:NM_001205301:exon9:c.G1222T:p.A408S,EGFLAM:NM_152403:exon9:c.G1222T:p.A408S	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0162415949113	0.0008	0.000399361	0.0004	0	0.0004	0.0001	0	0.0006	0	0.0003	0.0004463	69	154602	rs144280109	0.0004	0.0004	0.0003	0.0004	0.0108	0.0004	0.0004	0.0086	0.0078	0.0004	0.0003	0.0023	0	0	0.0108	0.0003	0.0009	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	4.816e-05	0	0.0006	0.0032	0	0	0.0136	0.0004	0.0009	0.0002	0.634	0.05091	T	0.654	0.06713	T	0.002	0.12183	B	0.003	0.12133	B	0.000052	0.53742	N	0.162320	0.503064	0.81001	D	-0.79	0.01637	N	-1.18	0.78314	T	0.77	0.01949	N	0.259	0.31027	-1.0231	0.22704	T	0.107	0.38979	T	10	0.010558546	0.00234	T	0.016242	0.37399	T	0.180	0.45073	.	.	0.3349148499	0.33108	0.2054628426780773	0.20463	0.083793042556	0.09449	0.48125243187	0.36230	T	0.086423	0.37720	T	-0.391856	0.02617	T	-0.457919	0.26827	T	0.0431086848799144	0.04258	T	0.80472	0.45238	T	0.056799863	0.11223	0.07393864	0.16121	0.056799863	0.11223	0.07393864	0.16121	-7.767	0.63102	D	.	.	0.088	0.11797	B	.;.;.	.;.;.	1.851629	0.23525	16.05	0.82680945385347615	0.14319	0.86212	0.45450	D	AEFBI	0.430607	0.49324	N	-0.610719799446432	0.18622	0.9682474	-0.355318616066524	0.26346	1.454564	0.981228701734756	0.30234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.53	2.62	0.30337	2.879000	0.48220	3.275000	0.37188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2061:0.0:0.3535:0.4404	2.748	0.04947	845	0.36510	Laminin G domain|Laminin G domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.009511	0.043860	0.000000	0.025862	0.000000	0.003788	0.05	1241.43	34	chr5	38407879	.	G	T	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=429;ExcessHet=0;FS=4.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.853;SOR=1.16	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	9	0	1	0
chr5	40746862	40746862	C	G	exonic	TTC33	.	nonsynonymous SNV	TTC33:NM_012382:exon2:c.G157C:p.E53Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00809337692221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1192514658	5.472e-06	5.472e-06	5.445e-06	5.5e-06	7.194e-06	2.35e-06	1.7e-06	3.09e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.0	0.92824	D	0.037	0.20876	B	0.029	0.21540	B	0.000000	0.84330	N	0.052654	0.999999	0.58761	D	1.1	0.28011	L	1.23	0.36872	T	-1.68	0.40082	N	0.214	0.23884	-1.0814	0.07079	T	0.074	0.29770	T	10	0.19789615	0.35739	T	0.008093	0.21444	T	0.047	0.12962	0.277	0.23004	0.430923071578	0.42714	0.584815732404343	0.58411	0.207471838488	0.23208	0.43230304122	0.29523	T	0.137962	0.60357	T	-0.170539	0.25151	T	-0.482744	0.24154	T	0.495604827465467	0.32469	T	0.820918	0.48005	T	0.31612772	0.54311	0.1919027	0.42675	0.31612772	0.54311	0.1919027	0.42674	-3.725	0.19688	T	.	.	0.145	0.33110	B	.;.;.;.	.;.;.;.	2.834785	0.37382	20.5	0.99089983278878768	0.52198	0.90165	0.51129	D	AEFDGBHCI	0.633087	0.61345	D	-0.134909164601774	0.35880	2.066532	0.0354860317273952	0.41375	2.484725	0.99999999427729	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.677038	0.66255	0	.	.	5.64	3.72	0.41857	3.751000	0.54882	2.640000	0.33748	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.994000	0.71098	0.0:0.7388:0.2612:0.0	15.558	0.75956	332	0.86382	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1056.43	34	chr5	40746862	.	C	G	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.588;DP=424;ExcessHet=0;FS=5.259;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.037;SOR=0.346	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,994	9	0	1	0
chr5	40852672	40852672	T	C	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.T1340C:p.L447P	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.429	0.012432885817	.	0.000199681	9.895e-05	9.625e-05	0.0003	0	0	9.004e-05	0	0.0001	0.0001229	19	154602	rs143022216	0.0001	0.0001	0.0001	0.0001	0.0066	0.0001	0.0001	0.0049	0.0044	0.0002	0.0003	0	2.519e-05	0	0.0066	8.723e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0010	0.0002	0.0001	0.0006	0.0005	4.808e-05	0	0.0010	0	0	0	0.0068	0.0002	0	0.0002	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.88582	D	0.000422	0.44522	D	0.000000	1	0.81001	D	2.27	0.64531	M	2.27	0.17431	T	-5.98	0.89334	D	0.867	0.86404	-1.0765	0.08043	T	0.098	0.36677	T	10	0.6851915	0.71519	D	0.012433	0.30996	T	0.429	0.73590	.	.	0.415055319159	0.41122	0.7552021941774799	0.75467	0.249479662165	0.27528	0.438466489315	0.30368	T	0.170054	0.51765	T	0.00419462	0.52231	T	0.0742255	0.75193	D	0.214120922741859	0.21166	T	0.437256	0.12012	T	0.899575	0.91345	0.88316613	0.93784	0.899575	0.91346	0.88316613	0.93784	-8.8	0.66400	D	.	.	0.255	0.48928	B	.	.	2.917260	0.38715	20.8	0.98911227897141518	0.48381	0.87934	0.47649	D	AEFBI	0.765485	0.70196	D	0.437832267151663	0.63516	4.586854	0.337237355742674	0.57743	3.941146	0.999999998517306	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	6.830000	0.75110	7.179000	0.57745	0.665000	0.62972	0.898000	0.31380	0.999000	0.35428	0.509000	0.29221	0.0:0.0:0.0:1.0	13.392	0.60274	480	0.77422	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.005435	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	2106.43	34	chr5	40852672	.	T	C	2106.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.817;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.295;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	9	0	1	0
chr5	40853596	40853596	G	A	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.G2264A:p.R755H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00195146281199	0.0002	0.000199681	0.0002	0.0003	0	0.0001	0	6.025e-05	0	0.0011	0.0001746	27	154602	rs149994770	0.0001	0.0001	9.528e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	2.987e-05	0	0	2.519e-05	0	0	8.273e-05	9.934e-05	0.0013	9.85e-05	9.843e-05	8.993e-05	0.0001	0.0010	6.003e-05	4.877e-05	0.0004	0.0003	4.815e-05	0	6.534e-05	0	0	0	0	0.0001	0	0.0010	0.282	0.15406	T	0.032	0.53426	D	0.0	0.02946	B	0.0	0.01387	B	0.288448	0.03878	N	1.465160	1	0.08975	N	-0.345	0.03330	N	2.72	0.11947	T	0.01	0.06868	N	0.024	0.00445	-0.9941	0.31538	T	0.015	0.06042	T	10	0.0071148574	0.00162	T	0.001951	0.03482	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.06352276612269336	0.06291	0.029448456413	0.03029	0.221299916506	0.01386	T	0.002524	0.01914	T	-0.70568	0.00034	T	-0.831988	0.01227	T	0.00445565169489112	0.00048	T	0.436356	0.11970	T	0.014942046	0.00115	0.01612082	0.00013	0.014942046	0.00115	0.01612082	0.00013	-4.293	0.28079	T	.	.	0.064	0.01738	B	.	.	0.757320	0.11270	7.897	0.48916411735135601	0.04121	0.01691	0.05388	N	AEFBI	0.064638	0.12563	N	-1.81244234682348	0.00515	0.02218589	-1.77664648019421	0.00837	0.03738388	0.992123365681805	0.32727	0.706548	0.73137	0	0.588015	0.36545	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.03	-1.02	0.09618	0.128000	0.15636	-0.327000	0.09919	-1.024000	0.01719	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2281:0.2239:0.3352:0.2127	1.127	0.01630	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1752.43	42	chr5	40853596	.	G	A	1752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.694;DP=464;ExcessHet=0;FS=2.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=0.822;SOR=0.465	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	9	0	1	0
chr5	40853902	40853902	C	T	exonic	CARD6	.	nonsynonymous SNV	CARD6:NM_032587:exon3:c.C2570T:p.S857L	.	425	1079	18	0	0	18	0.00827206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00410600996475	0.0027	0.00159744	0.0024	0.0006	0.0014	0	0.0014	0.0037	0.0044	0.0011	0.0024191	374	154602	rs148780446	0.0026	0.0026	0.0025	0.0027	0.0102	0.0025	0.0025	0.0081	0.0074	0.0006	0.0022	0.0016	0	0.0013	0.0102	0.0029	0.0027	0.0012	0.0027	0.0027	0.0027	0.0027	0.0043	0.0025	0.0024	0.0039	0.0037	0.0006	0.0011	0.0031	0.0012	0	0.0023	0.0034	0.0043	0.0052	0.0008	1.0	0.00964	T	0.611	0.07666	T	0.002	0.09854	B	0.003	0.08700	B	0.429181	0.04694	N	1.414550	1	0.08975	N	0.255	0.09829	N	2.62	0.12988	T	-1.1	0.28497	N	0.092	0.07125	-0.9757	0.35970	T	0.020	0.08407	T	10	0.004354179	0.00088	T	0.004106	0.09806	T	0.023	0.04649	.	.	0.171388866994	0.16791	0.08456952007917354	0.08390	0.0254265368398	0.02595	0.262113213539	0.05144	T	0.013495	0.11662	T	-0.620703	0.00109	T	-0.663557	0.08028	T	0.00111350901734773	0.00011	T	0.556944	0.19352	T	0.020639135	0.00629	0.031389404	0.01720	0.020639135	0.00629	0.031389404	0.01720	-3.764	0.20268	T	.	.	0.096	0.15385	B	.	.	0.975961	0.13534	10.06	0.79962525394144957	0.12981	0.02723	0.07386	N	AEFDGBI	0.043554	0.06900	N	-0.977136948018202	0.09093	0.428983	-0.989187056023902	0.10027	0.5024787	0.999647585175809	0.41316	0.706548	0.73137	0	0.588015	0.36545	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.9	0.847	0.18099	-0.071000	0.11465	0.597000	0.19884	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.136000	0.19798	0.0:0.5993:0.0:0.4007	7.925	0.29034	479	0.77495	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.020202	0.017663	0.005848	0.000000	0.034483	0.018293	0.000000	0.05	1035.43	42	chr5	40853902	.	C	T	1035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=432;ExcessHet=0;FS=1.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.011;SOR=0.521	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1194	9	0	1	0
chr5	41000689	41000689	T	C	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon38:c.A4339G:p.K1447E	.	421	1099	2	0	0	2	0.000909091	.	.	.	2343801	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00860564876133	.	.	0.0002	0.0001	0	0	0	1.754e-05	0	0.0012	0.0001035	16	154602	rs780611554	6.855e-05	6.909e-05	3.273e-05	0.0001	0.0011	5.725e-05	5.337e-05	0.0009	0.0008	5.996e-05	0	0	0	0	0.0005	0	3.32e-05	0.0011	2.63e-05	2.627e-05	2.57e-05	2.692e-05	0.0006	8.15e-06	5.14e-06	0.0002	9.022e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.99	0.02825	T	0.175	0.30631	T	0.843	0.46605	P	0.479	0.47059	P	0.095523	0.20119	N	0.481862	0.922558	0.27258	N	1.69	0.43327	L	0.25	0.59449	T	0.11	0.05706	N	0.368	0.42541	-0.9909	0.32373	T	0.119	0.41778	T	10	0.04738739	0.04051	T	0.008606	0.22755	T	0.198	0.48105	0.353	0.35246	0.17948927462	0.17512	0.16060539175108976	0.15981	0.0234322222291	0.02374	0.445960283279	0.31392	T	0.001855	0.01270	T	-0.32231	0.06711	T	-0.296351	0.45107	T	0.933140456676483	0.59967	D	0.720728	0.33361	T	0.084430605	0.19541	0.10888649	0.26236	0.084430605	0.19541	0.10888649	0.26236	-4.67	0.33039	T	.	.	0.093	0.14201	B	.;.	.;.	3.295831	0.45225	22.1	0.99180618452599856	0.54672	0.59726	0.30995	D	AEFDGBI	0.152666	0.27739	N	0.0486178316055715	0.44080	2.688557	0.154470082940626	0.47379	2.969052	0.27514033220544	0.18932	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	4.43	0.52967	1.059000	0.30127	3.425000	0.38278	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1798:0.8202	9.370	0.37408	510	0.75209	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	798.43	35	chr5	41000689	.	T	C	798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.432;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.113;SOR=0.794	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	9	0	1	0
chr5	41069719	41069719	A	G	exonic	MROH2B	.	nonsynonymous SNV	MROH2B:NM_173489:exon2:c.T62C:p.M21T	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00802609404047	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229085483	6.87e-07	2.736e-06	0	1.382e-06	9.021e-07	0	0	.	.	0	0	0	0	0	0	9.021e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.283	0.21478	T	0.017	0.17573	B	0.008	0.13708	B	0.054915	0.22685	N	0.397080	0.992095	0.23936	N	1.6	0.40776	L	5.23	0.01143	T	-0.26	0.11185	N	0.296	0.33469	-0.8920	0.48758	T	0.003	0.00800	T	10	0.16036585	0.30108	T	0.008026	0.21290	T	0.068	0.19811	0.316	0.29258	0.0138822411134	0.00435	0.4913855018494086	0.49059	0.0236976023057	0.02403	0.596883535385	0.52465	T	0.003288	0.02698	T	-0.164853	0.26016	T	-0.474577	0.25023	T	0.555659174919128	0.34690	D	0.505249	0.15946	T	0.2736368	0.50431	0.19534466	0.43206	0.2736368	0.50431	0.19534466	0.43205	-3.385	0.14855	T	.	.	0.268	0.50194	B	.	.	2.675028	0.34885	19.75	0.98128529360723882	0.38498	0.74791	0.36596	D	AEFI	0.195652	0.32268	N	-0.198765660527057	0.33186	1.879923	0.0482941933226342	0.41988	2.532034	0.0389808572417734	0.14373	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.16	5.02	0.66742	2.800000	0.47595	6.086000	0.53397	0.756000	0.94297	0.978000	0.35038	1.000000	0.68203	0.968000	0.53726	0.9147:0.0:0.0853:0.0	8.298	0.31158	425	0.81160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	966.43	68	chr5	41069719	.	A	G	966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.274;DP=535;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-1.142;SOR=0.737	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1223	9	0	1	0
chr5	41172239	41172239	G	A	exonic	C6	.	nonsynonymous SNV	C6:NM_000065:exon9:c.C1277T:p.S426L,C6:NM_001115131:exon9:c.C1277T:p.S426L	C6 deficiency;Combined C6/C7 deficiency (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0381834719083	.	.	3.301e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs759979977	5.474e-06	5.472e-06	4.085e-06	6.877e-06	6.296e-06	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.089	0.40426	T	0.009	0.15093	B	0.015	0.17295	B	0.001557	0.38671	N	0.255835	0.983197	0.39984	D	2.19	0.61577	M	-1.89	0.84557	D	-1.82	0.42763	N	0.135	0.13484	-0.2163	0.77250	T	0.485	0.80360	T	10	0.20841452	0.37170	T	0.038183	0.58072	D	0.259	0.57090	0.555	0.67271	0.853093137908	0.85167	0.597558841771172	0.59686	0.0391732691062	0.04173	0.368175148964	0.20569	T	0.096783	0.39894	T	-0.0984124	0.36689	T	-0.248688	0.49946	T	0.439609915018082	0.30415	T	0.851715	0.53598	D	0.319662	0.54612	0.24979477	0.50557	0.319662	0.54612	0.24979477	0.50557	-5.378	0.40707	T	.	.	0.208	0.43640	B	.;.	.;.	4.262417	0.64784	24.7	0.99219662618067594	0.55870	0.96669	0.70311	D	AEFI	0.907039	0.86057	D	-0.0249754145994677	0.40727	2.423616	0.0944491709770175	0.44269	2.711945	0.898562709203638	0.26029	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	4.15	0.47978	5.454000	0.66392	9.624000	0.81112	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0758:0.0:0.9242:0.0	14.353	0.66277	471	0.78036	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain;Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	934.43	36	chr5	41172239	.	G	A	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.638;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.319;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	9	0	1	0
chr5	42688922	42688922	C	T	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon2:c.C103T:p.R35C,GHR:NM_001242406:exon3:c.C169T:p.R57C,GHR:NM_001242462:exon3:c.C169T:p.R57C,GHR:NM_000163:exon4:c.C169T:p.R57C,GHR:NM_001242399:exon4:c.C190T:p.R64C,GHR:NM_001242402:exon4:c.C169T:p.R57C,GHR:NM_001242403:exon4:c.C169T:p.R57C,GHR:NM_001242404:exon4:c.C169T:p.R57C,GHR:NM_001242405:exon4:c.C169T:p.R57C,GHR:NM_001242400:exon5:c.C169T:p.R57C,GHR:NM_001242401:exon5:c.C169T:p.R57C	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	894396	Laron-type_isolated_somatotropin_defect	MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.694	0.316874160296	.	0.000199681	8.238e-06	0	8.651e-05	0	0	0	0	0	1.29e-05	2	154602	rs200503849	1.163e-05	1.163e-05	9.533e-06	1.376e-05	2.236e-05	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	2.236e-05	0	0	0	0	1.26e-05	1.656e-05	1.16e-05	1.314e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.0	0.91255	D	0.105	0.43913	T	1.0	0.90584	D	1.0	0.97372	D	0.000136	0.49741	D	0.169693	1	0.81001	D	3.24	0.89678	M	-1.87	0.84415	D	-2.4	0.52776	N	0.86	0.86297	0.719	0.93406	D	0.792	0.92949	D	10	0.84537435	0.83701	D	0.316874	0.91356	D	0.694	0.88913	.	.	0.971267218976	0.97095	0.8464529657341133	0.84606	0.362600631993	0.37909	0.492148011923	0.37736	T	0.803419	0.95012	D	0.325875	0.84883	D	0.313185	0.88797	D	0.985465526580811	0.76450	D	0.983102	0.94254	D	0.8132915	0.84771	0.5228937	0.72436	0.8132915	0.84773	0.5228937	0.72436	-9.579	0.73648	D	0.8336555865222529	0.90389	0.739	0.80528	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.522595	0.91795	32	0.99933260535526991	0.99488	0.81940	0.41247	D	AEFI	0.646892	0.62227	D	0.83281835715914	0.88108	9.456632	0.777819277490703	0.88212	9.498413	0.998707044980081	0.37498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	3.548000	0.53423	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1407:0.8593:0.0:0.0	15.285	0.73520	545	0.72614	Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;Growth hormone/erythropoietin receptor, ligand binding;.;Growth hormone/erythropoietin receptor, ligand binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1310.43	102	chr5	42688922	.	C	T	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.516;DP=424;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.819;SOR=0.516	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr5	50428224	50428224	G	A	exonic	EMB	.	nonsynonymous SNV	EMB:NM_198449:exon2:c.C116T:p.S39L	.	436	1080	5	1	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0035	0.00159744	0.0038	0.0009	0.0030	0	0.0147	0.0045	0.0011	0.0008	0.0038486	595	154602	rs147510643	0.0045	0.0046	0.0045	0.0045	0.0049	0.0044	0.0044	0.0048	0.0048	0.0009	0.0027	0.0006	0	0.0131	0.0016	0.0049	0.0033	0.0009	0.0045	0.0045	0.0038	0.0053	0.0055	0.0042	0.0041	0.0050	0.0048	0.0013	0	0.0029	0	0	0.0186	0	0.0055	0.0052	0.0008	0.163	0.23450	T	0.026	0.55759	D	0.052	0.22494	B	0.003	0.08700	B	0.786531	0.09430	N	0.882556	1	0.24881	N	0.345	0.11182	N	0.76	0.57100	T	-0.61	0.18042	N	0.266	0.32591	-1.0417	0.16800	T	0.074	0.29992	T	9	0.0028268099	0.00045	T	.	.	.	0.069	0.20116	.	.	0.332386209738	0.32853	0.5027389072733729	0.50195	0.281622849585	0.30635	0.441197484732	0.30740	T	0.050916	0.28731	T	-0.55164	0.00285	T	-0.559055	0.16465	T	0.0139289766706949	0.00266	T	0.50265	0.15781	T	0.03727929	0.04748	0.06745644	0.13957	0.03727929	0.04748	0.06745644	0.13956	-3.493	0.16334	T	.	.	0.090	0.18828	B	.;.	.;.	1.364660	0.17740	13.34	0.88639469207132471	0.18136	0.10194	0.15768	N	AEFDBI	0.086520	0.17542	N	-1.05553689277862	0.07479	0.3475867	-1.01151927232117	0.09531	0.4747319	0.99998990671297	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.75	3.87	0.43823	1.828000	0.38750	2.209000	0.31352	-0.104000	0.15758	0.073000	0.22155	0.503000	0.25215	0.933000	0.47100	0.0902:0.0:0.9098:0.0	12.105	0.53108	786	0.46839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1655.43	34	chr5	50428224	.	G	A	1655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.127;DP=449;ExcessHet=0;FS=3.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.08;SOR=0.464	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	9	0	1	0
chr5	50829904	50829904	A	G	exonic	PARP8	.	nonsynonymous SNV	PARP8:NM_001178056:exon21:c.A2050G:p.M684V,PARP8:NM_001331028:exon22:c.A2113G:p.M705V,PARP8:NM_024615:exon22:c.A2176G:p.M726V,PARP8:NM_001178055:exon23:c.A2176G:p.M726V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00670284399301	0.0015	0.000599042	0.0020	0.0006	0.0007	0	0	0.0022	0.0011	0.0048	0.0018887	292	154602	rs142626343	0.0018	0.0018	0.0016	0.0019	0.0059	0.0017	0.0017	0.0044	0.0041	0.0003	0.0008	0.0066	0	5.722e-05	0.0059	0.0016	0.0022	0.0046	0.0011	0.0011	0.0012	0.0010	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0	0.0012	0.0055	0	0	0.0068	0.0015	0.0014	0.0029	0.614	0.09155	T	0.834	0.06448	T	0.003	0.14184	B	0.003	0.14300	B	0.000000	0.84330	D	0.000000	0.99871	0.45323	D	0.025	0.08010	N	2.48	0.14657	T	-0.15	0.09297	N	0.33	0.41754	-1.0611	0.11483	T	0.030	0.12804	T	9	0.011712164	0.00255	T	0.006703	0.17699	T	0.143	0.38195	.	.	0.347217280506	0.34334	0.7629276205720856	0.76240	0.789451278895	0.65700	0.516240000725	0.41098	T	0.040763	0.25635	T	-0.451423	0.01108	T	-0.42081	0.30984	T	0.149053514003754	0.17027	T	0.768423	0.40183	T	0.18151607	0.39326	0.15985855	0.37261	0.18151607	0.39326	0.15985855	0.37261	-8.864	0.66817	D	.	.	0.084	0.15654	B	.;.;.;.;.	.;.;.;.;.	2.926809	0.38873	20.8	0.70433891668309978	0.09294	0.89685	0.50309	D	AEFGBI	0.256155	0.37513	N	-0.0689450619117559	0.38760	2.275142	0.128083347782333	0.45991	2.852609	0.978530087881916	0.29932	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	3.192000	0.50690	9.331000	0.80131	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.628	0.76629	699	0.57969	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.005848	0.000000	0.008621	0.000000	0.015152	0.05	1321.43	34	chr5	50829904	.	A	G	1321.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.781;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.31;SOR=0.685	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr5	53065952	53065952	G	A	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon15:c.G1918A:p.A640T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0223998149662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.587e-06	6.569e-06	0	1.349e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.022	0.57587	D	.	.	.	.	.	.	0.003228	0.35241	N	0.310055	0.992577	0.41683	D	.	.	.	0.93	0.44065	T	-2.53	0.54864	D	0.835	0.83066	-0.7178	0.59570	T	0.177	0.52146	T	10	0.8124682	0.80517	D	0.022	0.45285	T	0.277	0.59375	0.593	0.72247	0.794230233366	0.79231	0.8503155894196922	0.84993	0.522854307783	0.50003	0.531628251076	0.43264	T	.	.	.	0.168196	0.70957	D	0.00382604	0.70583	D	0.935711026191711	0.60415	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.51288	B	.	.	4.282433	0.65240	24.8	0.99893273533942306	0.96666	0.98369	0.82077	D	AEFDBI	0.864944	0.78389	D	0.677798442973819	0.78178	6.819456	0.693270772484928	0.81867	7.628317	0.999999894462443	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.631000	0.82408	10.001000	0.83042	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8399:0.1601	13.064	0.58434	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	502.43	36	chr5	53065952	.	G	A	502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.351;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.158;SOR=0.678	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	9	0	1	0
chr5	53107115	53107115	G	C	exonic	MOCS2	.	nonsynonymous SNV	MOCS2:NM_176806:exon3:c.C247G:p.P83A	Molybdenum cofactor deficiency B, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	0.144725194482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	.	.	.	.	1	0.81001	D	.	.	.	-2.42	0.88611	D	-7.43	0.94843	D	0.878	0.87699	0.442	0.89722	D	0.756	0.91679	D	8	0.9617568	0.95594	D	0.144725	0.82696	D	0.817	0.94123	0.826	0.93721	0.891418545996	0.89034	.	.	.	.	0.621587276459	0.55954	T	0.426682	0.77640	T	0.317245	0.84277	D	0.217924	0.84072	D	0.885202586650848	0.53551	D	0.794521	0.43681	T	.	.	.	.	.	.	.	.	-10.447	0.76542	D	0.8047433264301003	0.88082	0.760	0.75508	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.339210	0.17456	13.17	0.99635289946608907	0.76326	0.99361	0.95020	D	AEFDBI	0.861435	0.77950	D	0.7194726764261	0.80910	7.400012	0.764040263152242	0.87204	9.141561	0.999999999999674	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	6.02	6.02	0.97559	7.961000	0.87447	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0:0.0:1.0:0.0	20.541	0.99263	850	0.35610	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	696.43	34	chr5	53107115	.	G	C	696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.257;SOR=0.697	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1233	9	0	1	0
chr5	53484188	53484188	C	G	exonic	FST	.	nonsynonymous SNV	FST:NM_006350:exon4:c.C616G:p.L206V,FST:NM_013409:exon4:c.C616G:p.L206V	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.0180602747225	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs774094121	6.16e-06	6.841e-06	4.086e-06	8.254e-06	0.0001	2.9e-06	2.1e-06	5.396e-05	4.042e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02048	T	0.273	0.22154	T	0.294	0.32391	B	0.413	0.44885	B	0.000000	0.84330	D	0.054942	1	0.81001	D	-1.01	0.01154	N	4.92	0.01404	T	0.18	0.05035	N	0.492	0.52563	-0.7997	0.55162	T	0.004	0.01125	T	10	0.24646837	0.41912	T	0.01806	0.39994	T	0.207	0.49555	0.501	0.59304	0.34333109794	0.33943	0.6509073472958219	0.65026	1.78295362445	0.91415	0.595003962517	0.52200	T	0.231765	0.59816	T	-0.37398	0.03398	T	-0.538305	0.18463	T	0.33492186665535	0.26421	T	0.943106	0.78551	D	0.23635122	0.46483	0.14890479	0.35179	0.23635122	0.46483	0.14890479	0.35178	-5.532	0.42416	T	.	.	0.119	0.27998	B	.;.;.	.;.;.	2.584100	0.33511	19.36	0.98083690592728456	0.38125	0.88061	0.47827	D	AEFDGBCI	0.559574	0.56833	D	-0.507931128466055	0.21823	1.160951	-0.28880374088934	0.28466	1.587421	0.999999999781978	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	6.17	4.37	0.51830	3.993000	0.56699	4.878000	0.45637	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.2495:0.7505:0.0:0.0	15.764	0.77876	856	0.34373	Kazal domain|Kazal domain|Kazal domain;.;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1514.43	35	chr5	53484188	.	C	G	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.56;DP=434;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.371;SOR=0.539	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1384	9	0	1	0
chr5	54985490	54985490	G	A	exonic	ESM1	.	nonsynonymous SNV	ESM1:NM_001135604:exon1:c.C28T:p.L10F,ESM1:NM_007036:exon1:c.C28T:p.L10F	.	430	1087	4	1	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0029	0.00499201	0.0020	0.0086	0.0046	0	0	0.0013	0.0059	0.0008	0.0018758	290	154602	rs142082865	0.0012	0.0012	0.0012	0.0012	0.0204	0.0012	0.0011	0.0174	0.0163	0.0069	0.0041	0.0082	2.541e-05	1.894e-05	0.0204	0.0007	0.0030	0.0008	0.0031	0.0031	0.0033	0.0029	0.0076	0.0029	0.0028	0.0069	0.0066	0.0076	0	0.0035	0.0115	0	0	0.0068	0.0008	0.0043	0.0004	0.091	0.31834	T	0.129	0.34837	T	0.289	0.32288	B	0.048	0.24975	B	0.000200	0.48115	D	0.142736	0.999981	0.54805	D	2.405	0.69568	M	.	.	.	-1.22	0.31170	N	0.292	0.33030	-0.8378	0.52793	T	0.153	0.48188	T	9	0.0085989535	0.00195	T	.	.	.	0.077	0.22490	.	.	0.184867976434	0.18130	0.5334456563168988	0.53269	1.61682442182	0.89012	0.40306198597	0.25495	T	0.041605	0.25913	T	-0.33942	0.05429	T	-0.256325	0.49189	T	0.0155705211096394	0.00355	T	0.764923	0.39208	T	0.08280162	0.19091	0.10984461	0.26479	0.08280162	0.19091	0.10984461	0.26478	-4.998	0.38666	T	.	.	0.077	0.06250	B	.;.;.	.;.;.	3.059747	0.41082	21.3	0.93920670122301297	0.23962	0.88168	0.47977	D	ALL	0.666670	0.63505	D	0.0497301230809387	0.44130	2.692704	0.128089132141046	0.45991	2.852636	0.999999999999905	0.74766	0.525926	0.21836	0	0.563428	0.19063	0	0.615948	0.41167	0	0.56214	0.19341	0	.	.	5.66	4.78	0.60666	4.417000	0.59573	7.337000	0.58231	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.142:0.0:0.858:0.0	11.108	0.47437	402	0.82617	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027190	0.060606	0.027174	0.052632	0.050000	0.025862	0.000000	0.003788	0.05	551.43	34	chr5	54985490	.	G	A	551.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.39;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1162	9	0	1	0
chr5	55910570	55910570	G	A	exonic	IL31RA	.	nonsynonymous SNV	IL31RA:NM_001242636:exon12:c.G1483A:p.E495K,IL31RA:NM_001242637:exon12:c.G1540A:p.E514K,IL31RA:NM_139017:exon12:c.G1540A:p.E514K,IL31RA:NM_001242639:exon13:c.G1114A:p.E372K,IL31RA:NM_001242638:exon14:c.G1483A:p.E495K	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0300446041285	0.0012	0.00179712	0.0009	0.0034	0.0029	0	0	0.0006	0.0022	0.0002	0.0009185	142	154602	rs113369650	0.0007	0.0007	0.0007	0.0007	0.0111	0.0006	0.0006	0.0089	0.0081	0.0031	0.0039	3.826e-05	0	0	0.0111	0.0005	0.0022	0.0002	0.0016	0.0016	0.0017	0.0016	0.0041	0.0015	0.0014	0.0033	0.0030	0.0033	0	0.0041	0	0	0	0.0170	0.0005	0.0047	0.0002	0.029	0.45756	D	0.0	0.92824	D	0.884	0.48618	P	0.54	0.48825	P	0.108006	0.19545	N	0.554060	0.94322	0.26728	N	.	.	.	0.41	0.57100	T	-1.65	0.39503	N	0.113	0.16586	-0.8852	0.49340	T	0.183	0.53148	T	10	0.0093584955	0.00211	T	0.030045	0.52439	D	0.202	0.48754	.	.	0.301455362545	0.29754	.	.	0.154396533391	0.17441	0.350457757711	0.17989	T	.	.	.	-0.456271	0.01036	T	-0.430284	0.29903	T	0.0214538987493933	0.00849	T	0.79572	0.44511	T	.	.	.	.	.	.	.	.	-5.377	0.41709	T	.	.	0.104	0.22171	B	.;.;.;.;.;.	.;.;.;.;.;.	2.576199	0.33391	19.33	0.99844243310187597	0.92403	0.63633	0.32150	D	AEFBI	0.084891	0.17208	N	0.126231928112726	0.47689	2.99111	0.0786502570247455	0.43475	2.648606	0.997263515537457	0.35436	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.01	3.2	0.35826	2.264000	0.42959	3.147000	0.36508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.763000	0.36255	0.1802:0.1713:0.6485:0.0	5.214	0.14653	891	0.26808	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.035354	0.014946	0.014620	0.050000	0.034483	0.000000	0.003788	0.05	880.43	33	chr5	55910570	.	G	A	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.628;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-2.517;SOR=0.648	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr5	55941186	55941186	C	T	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon15:c.G1657A:p.V553I,IL6ST:NM_001190981:exon16:c.G2470A:p.V824I,IL6ST:NM_001364275:exon16:c.G2551A:p.V851I,IL6ST:NM_001364278:exon16:c.G1750A:p.V584I,IL6ST:NM_001364276:exon17:c.G2443A:p.V815I,IL6ST:NM_001364277:exon17:c.G1786A:p.V596I,IL6ST:NM_002184:exon17:c.G2653A:p.V885I	.	429	1063	29	1	0	31	0.0143718	.	.	.	699119	IL6ST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0017	0.00199681	0.0039	0.0007	0.0005	0	0.0038	0.0021	0.0055	0.0179	0.0035834	554	154602	rs61748224	0.0034	0.0034	0.0029	0.0039	0.0179	0.0033	0.0033	0.0172	0.0169	0.0005	0.0005	0.0002	5.038e-05	0.0038	0.0043	0.0027	0.0032	0.0179	0.0023	0.0023	0.0021	0.0024	0.0159	0.0021	0.0020	0.0131	0.0120	0.0005	0	0.0015	0	0	0.0034	0.0034	0.0027	0.0019	0.0159	0.542	0.09048	T	0.898	0.03108	T	0.001	0.07471	B	0.001	0.04355	B	0.018198	0.01482	N	2.068590	1	0.08975	N	1.465	0.36909	L	1.47	0.37405	T	-0.13	0.08971	N	0.037	0.08925	-1.0498	0.14453	T	0.051	0.21495	T	10	0.002128154	0.00031	T	.	.	.	0.012	0.01476	.	.	0.221890330934	0.21812	0.10698444008061785	0.10628	0.0990729327235	0.11194	0.260153472424	0.04909	T	0.09695	0.39929	T	-0.672632	0.00053	T	-0.724686	0.04572	T	0.000301776266169947	0.00002	T	0.639136	0.25234	T	0.012056755	0.00026	0.021382593	0.00192	0.012056755	0.00026	0.021382593	0.00192	-4.446	0.30176	T	.	.	0.075	0.06849	B	.;.;.;.	.;.;.;.	0.946059	0.13218	9.720	0.54255523894851343	0.05101	0.04110	0.09581	N	AEFGBI	0.072098	0.14377	N	-1.29719264259542	0.03710	0.1661865	-1.26880531825378	0.04859	0.2301829	0.997350499478212	0.35530	0.706548	0.73137	0	0.552637	0.17590	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.73	-0.551	0.11230	0.039000	0.13770	-0.484000	0.08901	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.317000	0.24900	0.1177:0.4125:0.0:0.4698	6.549	0.21620	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.002717	0.011696	0.000000	0.000000	0.012195	0.011364	0.05	1795.43	33	chr5	55941186	.	C	T	1795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.77;DP=486;ExcessHet=0;FS=1.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.668;SOR=0.82	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	9	0	1	0
chr5	55954959	55954959	G	C	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon9:c.C305G:p.P102R,IL6ST:NM_001364278:exon10:c.C398G:p.P133R,IL6ST:NM_001364275:exon11:c.C1301G:p.P434R,IL6ST:NM_001364276:exon11:c.C1091G:p.P364R,IL6ST:NM_001364277:exon11:c.C434G:p.P145R,IL6ST:NM_002184:exon11:c.C1301G:p.P434R	.	434	1079	9	0	0	9	0.00415321	.	.	.	1155139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.350	0.0409083545919	0.0007	0.000798722	0.0011	0	0.0003	0	0	0.0018	0.0033	0.0006	0.0010155	157	154602	rs140433866	0.0008	0.0008	0.0007	0.0008	0.0042	0.0007	0.0007	0.0029	0.0024	0.0001	0.0004	0.0142	0	0.0001	0.0042	0.0005	0.0018	0.0005	0.0010	0.0010	0.0010	0.0011	0.0010	0.0009	0.0008	0.0007	0.0006	0	0.0253	0.0010	0.0147	0	9.455e-05	0.0136	0.0008	0.0009	0.0006	0.02	0.49613	D	0.007	0.69154	D	1.0	0.90584	D	0.989	0.78396	D	0.000013	0.62929	D	0.153955	0.999999	0.81001	D	2.97	0.85306	M	1.26	0.36330	T	-3.91	0.73042	D	0.77	0.76946	-0.6579	0.62368	T	0.235	0.60185	T	10	0.02991128	0.01117	T	0.040908	0.59636	D	0.350	0.67142	.	.	0.763000172505	0.76084	0.8712546125735658	0.87091	0.583545166247	0.54064	0.46848577261	0.34472	T	0.673583	0.90338	D	-0.031071	0.47262	T	0.142059	0.79678	D	0.0807639962290891	0.10085	T	0.812919	0.46506	T	0.66293705	0.76056	0.29572842	0.55605	0.66293705	0.76057	0.29572842	0.55604	-9.836	0.72924	D	.	.	0.471	0.63253	A	.;.;.	.;.;.	4.610175	0.73108	25.9	0.99782792603395087	0.86955	0.93260	0.57744	D	AEFBCI	0.683982	0.64648	D	0.722374801316952	0.81100	7.443585	0.690333920104024	0.81645	7.575264	0.998144260632139	0.36487	0.67177	0.52595	0	0.653731	0.59785	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.94	5.08	0.68373	6.784000	0.74858	11.663000	0.94010	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0676:0.0:0.9324:0.0	15.098	0.71917	824	0.40336	Long hematopoietin receptor, Gp130 family 2, conserved site|Fibronectin type III|Fibronectin type III;Long hematopoietin receptor, Gp130 family 2, conserved site|Fibronectin type III|Fibronectin type III;Long hematopoietin receptor, Gp130 family 2, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	789.43	33	chr5	55954959	.	G	C	789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.383;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.97;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	9	0	1	0
chr5	56127045	56127045	T	C	exonic	ANKRD55	.	nonsynonymous SNV	ANKRD55:NM_024669:exon8:c.A674G:p.N225S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0276808016079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.58626	D	0.004	0.74150	D	.	.	.	.	.	.	0.000001	0.62929	N	0.053695	0.999965	0.53665	D	1.845	0.48678	L	2.22	0.59037	T	-3.77	0.71397	D	0.481	0.55886	0.025	0.82759	D	0.452	0.78591	T	10	0.45546627	0.58961	T	0.027681	0.50460	D	0.273	0.58883	0.364	0.37036	0.752464286618	0.75022	0.6210663418759008	0.62039	0.701132924051	0.61131	0.52927339077	0.42932	T	0.140578	0.47519	T	-0.137413	0.30303	T	-0.435161	0.29350	T	0.992648541927338	0.83178	D	0.850615	0.53646	D	0.30727524	0.53549	0.30348447	0.56379	0.30727524	0.53549	0.30348447	0.56378	-6.577	0.50877	T	.	.	0.255	0.48988	B	.;.	.;.	3.196037	0.43440	21.7	0.99771650595064842	0.85918	0.94956	0.62917	D	AEFDBHIJ	0.806042	0.73046	D	0.769239114575323	0.84150	8.208537	0.707846964090335	0.82975	7.901852	0.999999999999991	0.74766	0.50284	0.20314	0	0.573888	0.26702	0	0.573888	0.23631	0	0.654926	0.60358	0	.	.	5.62	5.62	0.85714	5.283000	0.65426	6.050000	0.53084	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	15.833	0.78546	296	0.88164	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	670.43	33	chr5	56127045	.	T	C	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.092;DP=382;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-0.108;SOR=0.556	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1011	9	0	1	0
chr5	56771557	56771557	G	T	exonic	LOC105378979	.	nonsynonymous SNV	LOC105378979:NM_001365184:exon2:c.C224A:p.T75N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs531984361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0119	0.0109	7.214e-05	0	0.0006	0.0006	0	0	0	0.0008	0.0009	0.0147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	38.49	.	chr5	56771557	.	G	T	38.49	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=19.25;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	4	1	0	5
chr5	56815575	56815575	-	GGC	exonic	MAP3K1	.	nonframeshift insertion	MAP3K1:NM_005921:exon1:c.2_3insGGC:p.A5_G6insA	46XY sex reversal 6, Autosomal dominant	14	1507	1	0	0	1	0.000331675	.	.	.	985225	not_specified|46,XY_sex_reversal_6	MedGen:CN169374|MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0	.	0	0	.	0	0	0	0.0001153	3	26028	rs779149827	0.0007	0.0006	0.0007	0.0007	0.0055	0.0006	0.0006	0.0047	0.0044	0.0055	0.0009	0.0004	3.725e-05	0.0002	0.0003	0.0006	0.0007	0	0.0019	0.0019	0.0019	0.0019	0.0047	0.0017	0.0017	0.0042	0.0040	0.0047	0	0.0011	0.0012	0.0002	0	0	0.0010	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	425.4	20	chr5	56815575	.	T	TGGC	425.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.054;DP=153;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=-0.248;SOR=0.591	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,336	9	0	1	0
chr5	56859791	56859791	A	G	exonic	MAP3K1	.	nonsynonymous SNV	MAP3K1:NM_005921:exon3:c.A710G:p.Q237R	46XY sex reversal 6, Autosomal dominant	0	1486	33	3	0	39	0.0129525	.	.	.	246988	not_provided|not_specified|46,XY_sex_reversal_6	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013410,MedGen:C3151064,OMIM:613762	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.137	.	0.0006	0.000798722	0.0018	0.0003	0.0065	0	0	0.0015	0.0102	0.0020	0.0015394	238	154602	rs55694258	0.0009	0.0009	0.0009	0.0010	0.0219	0.0009	0.0009	0.0188	0.0176	0.0008	0.0039	0.0015	0	1.873e-05	0.0219	0.0007	0.0016	0.0020	0.0009	0.0009	0.0009	0.0010	0.0024	0.0008	0.0007	0.0018	0.0016	0.0003	0	0.0024	0.0020	0	9.411e-05	0.0272	0.0009	0.0038	0.0004	0.006	0.61437	D	0.481	0.11864	T	0.0	0.02946	B	0.0	0.01387	B	0.587908	0.11078	N	0.837756	0.999939	0.19363	N	0.805	0.20218	L	-0.34	0.68474	T	-0.26	0.11185	N	0.188	0.20528	-1.0356	0.18668	T	0.115	0.40695	T	10	0.0047872365	0.00101	T	.	.	.	0.137	0.36984	.	.	0.767770749785	0.76565	0.31167554021633687	0.31080	0.279873614581	0.30470	0.311512827873	0.12135	T	0.055951	0.30151	T	-0.456778	0.01029	T	-0.430062	0.29928	T	0.00589602414781587	0.00065	T	0.490351	0.15073	T	0.11099415	0.26231	0.0930921	0.21972	0.11099415	0.26231	0.0930921	0.21971	-2.332	0.04733	T	0.13438310379934096	0.14510	0.086	0.10691	B	.	.	0.535943	0.09045	5.828	0.96312841096384838	0.29387	0.16668	0.19494	N	AEFBI	0.065049	0.12665	N	-1.08706520600638	0.06880	0.3180284	-1.11087423519471	0.07492	0.3646073	0.997200512597275	0.35373	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.72	-3.69	0.04162	0.455000	0.21555	0.471000	0.18712	0.756000	0.94297	0.073000	0.22155	0.001000	0.17328	0.102000	0.18378	0.3117:0.428:0.0612:0.1991	4.332	0.10510	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021148	0.005051	0.024457	0.046784	0.100000	0.025862	0.015244	0.000000	0.05	1058.43	34	chr5	56859791	.	A	G	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=363;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.97;ReadPosRankSum=0.989;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	9	0	1	0
chr5	56946980	56946980	C	G	exonic	MIER3	.	nonsynonymous SNV	MIER3:NM_001297598:exon3:c.G141C:p.E47D,MIER3:NM_001297599:exon3:c.G126C:p.E42D,MIER3:NM_152622:exon3:c.G126C:p.E42D	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0496324848157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.38407	T	0.122	0.36901	T	0.996	0.68779	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.76	0.80626	M	1.78	0.25678	T	-1.98	0.45769	N	0.552	0.59223	-0.9482	0.41279	T	0.138	0.45621	T	10	0.33170018	0.50388	T	0.049632	0.63897	D	0.247	0.55478	0.386	0.40624	0.179529687257	0.17594	0.32313601543325343	0.32226	1.27724802851	0.82438	0.721207678318	0.70223	T	0.071461	0.34214	T	-0.105792	0.35466	T	-0.38974	0.34582	T	0.97898131608963	0.72599	D	0.910809	0.96290	D	0.18547371	0.39911	0.17362513	0.39703	0.18547371	0.39911	0.17362513	0.39702	-9.735	0.72310	D	.	.	0.886	0.83571	P	.;.;.;.	.;.;.;.	2.662957	0.34696	19.70	0.99499073261348292	0.67916	0.78719	0.38880	D	AEFBI	0.414593	0.48379	N	0.0275003151487531	0.43108	2.610278	-0.0971966707643871	0.35505	2.054991	0.684044935099548	0.22513	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.6	-1.63	0.07900	-0.035000	0.12156	0.373000	0.17698	-0.242000	0.07441	0.806000	0.29799	0.994000	0.32194	0.996000	0.76049	0.0:0.5153:0.0:0.4847	11.953	0.52251	951	0.11083	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	489.43	34	chr5	56946980	.	C	G	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.263;DP=413;ExcessHet=0;FS=1.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.5;ReadPosRankSum=0.138;SOR=0.922	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1327	9	0	1	0
chr5	59039095	59039095	G	T	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001197222:exon1:c.C13A:p.P5T	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	438944	not_provided|PDE4D-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0159	0.0060	0.0066	0	0.0224	0.0232	0.0227	0.0022	0.0023027	356	154602	rs16889108	0.0105	0.0100	0.0104	0.0107	0.0119	0.0104	0.0103	0.0117	0.0116	0.0013	0.0046	0.0033	0	0.0180	0.0004	0.0119	0.0067	0.0024	0.0085	0.0085	0.0084	0.0086	0.0135	0.0081	0.0079	0.0128	0.0125	0.0018	0	0.0042	0.0037	0	0.0189	0	0.0135	0.0043	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003698	0.000000	0.006522	0.000000	0.000000	0.026316	0.000000	0.000000	0.05	576.43	33	chr5	59039095	.	G	T	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.299;DP=386;ExcessHet=0;FS=2.202;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.335;SOR=1.008	GT:AD:DP:GQ:PL	0/1:37,26:63:99:588,0,974	9	0	1	0
chr5	60754754	60754754	G	A	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon8:c.C716T:p.A239V,ELOVL7:NM_001297618:exon9:c.C455T:p.A152V,ELOVL7:NM_024930:exon9:c.C716T:p.A239V,ELOVL7:NM_001297617:exon11:c.C677T:p.A226V	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00279553	0.0022	0	0.0003	0.0001	0	1.499e-05	0.0011	0.0161	0.0019275	298	154602	rs114998585	0.0010	0.0010	0.0006	0.0015	0.0165	0.0010	0.0010	0.0158	0.0155	2.987e-05	8.944e-05	0	0	0	0.0007	1.979e-05	0.0012	0.0165	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	0	0	6.542e-05	0	0	0	0	2.941e-05	0	0.0147	0.713	0.04008	T	0.612	0.07642	T	0.001	0.09854	B	0.003	0.10090	B	0.597730	0.05628	N	1.221100	0.999578	0.20950	N	-0.11	0.04642	N	2.03	0.20959	T	2.03	0.00392	N	0.028	0.00618	-1.0005	0.29774	T	0.025	0.10598	T	10	0.003026247	0.00050	T	.	.	.	0.111	0.31313	.	.	0.0482279557977	0.04254	0.17150888370810333	0.17070	0.161705904285	0.18250	0.272379875183	0.06453	T	0.009644	0.08771	T	-0.643436	0.00079	T	-0.684054	0.06739	T	0.0103003973151032	0.00140	T	0.712729	0.32446	T	0.09406212	0.22106	0.052071497	0.08507	0.09406212	0.22106	0.052071497	0.08507	-1.894	0.02805	T	.	.	0.173	0.39322	B	.;.;.	.;.;.	1.276549	0.16756	12.75	0.28716384890801233	0.01488	0.33976	0.24958	N	AEFI	0.055051	0.10063	N	-1.02884403872823	0.08008	0.3740372	-0.921659100159656	0.11584	0.5910053	1.85047223870922E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.89	-0.637	0.10926	4.871000	0.62737	4.333000	0.43033	-0.102000	0.15922	0.999000	0.42656	0.997000	0.33255	0.608000	0.31589	0.6093:0.0:0.0631:0.3276	7.478	0.26554	0	0.99858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	1067.43	36	chr5	60754754	.	G	A	1067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.289;DP=412;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-1.7;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	9	0	1	0
chr5	60771922	60771922	G	C	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon3:c.C236G:p.S79C,ELOVL7:NM_024930:exon4:c.C236G:p.S79C,ELOVL7:NM_001297617:exon6:c.C197G:p.S66C	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.0613547569781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368309905	6.851e-07	6.84e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	0.71	0.51228	T	-4.82	0.81107	D	0.919	0.92200	-0.4118	0.71653	T	0.341	0.70713	T	10	0.91465944	0.90828	D	0.061355	0.68304	D	0.681	0.88300	0.774	0.90002	0.610589977033	0.60745	0.7475018586076664	0.74696	0.676802285866	0.59796	0.628733038902	0.56965	T	0.205654	0.56477	T	0.304053	0.83289	D	0.198975	0.83072	D	0.998110771179199	0.93268	D	0.838216	0.51127	T	0.84997267	0.87333	0.69183075	0.81863	0.84997267	0.87335	0.69183075	0.81864	-9.27	0.69419	D	.	.	0.548	0.66743	A	.;.;.;.;.	.;.;.;.;.	5.119921	0.85627	28.7	0.99445181225394774	0.64971	0.99366	0.95088	D	AEFBI	0.941110	0.94395	D	0.93457361501928	0.93347	11.97975	0.920281621337817	0.96398	14.64769	0.999999989364752	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.561000	0.97256	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.279	0.98503	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1244.14	36	chr5	60771922	.	G	C	1244.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.544;DP=463;ExcessHet=0.2348;FS=1.23;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=1.11;SOR=0.797	GT:AD:DP:GQ:PL	0/1:64,33:97:99:700,0,1668	8	0	2	0
chr5	64754350	64754350	T	C	exonic	SREK1IP1	.	nonsynonymous SNV	SREK1IP1:NM_173829:exon2:c.A26G:p.D9G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.00777017731107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.009	0.66756	D	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	1.67	0.42885	L	.	.	.	-5.16	0.83422	D	0.814	0.80964	-0.5662	0.66166	T	0.272	0.64360	T	9	0.6795159	0.71195	D	0.00777	0.20616	T	0.202	0.48754	0.262	0.20631	0.23798241625	0.23396	0.3775544890225989	0.37670	0.666548983245	0.59207	0.727358996868	0.71121	T	0.173695	0.52265	T	0.186097	0.72603	D	0.0295397	0.72248	D	0.994544386863708	0.85897	D	0.872113	0.57861	D	0.5262522	0.68617	0.47772655	0.69744	0.5262522	0.68618	0.47772655	0.69744	-11.819	0.83958	D	.	.	0.821	0.78270	P	.	.	5.048900	0.84086	28.2	0.99783674794127952	0.87043	0.88904	0.49062	D	AEFBI	0.414667	0.48384	N	0.548394298695238	0.69985	5.43544	0.560494673895224	0.72129	5.761656	0.999815966530471	0.43459	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.33	5.33	0.75683	3.493000	0.53029	7.799000	0.69096	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.963	0.52307	595	0.68488	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2274.43	144	chr5	64754350	.	T	C	2274.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.682;DP=456;ExcessHet=0;FS=0.644;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=-0.241;SOR=0.773	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr5	65660736	65660736	A	G	exonic	TRAPPC13	.	nonsynonymous SNV	TRAPPC13:NM_001365342:exon8:c.A247G:p.M83V,TRAPPC13:NM_001365343:exon8:c.A247G:p.M83V,TRAPPC13:NM_001093756:exon9:c.A718G:p.M240V,TRAPPC13:NM_001243737:exon9:c.A718G:p.M240V,TRAPPC13:NM_001093755:exon10:c.A736G:p.M246V,TRAPPC13:NM_024941:exon10:c.A736G:p.M246V	.	433	1062	27	0	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	.	0.0004	0.00259585	0.0026	0.0003	0.0007	0	0	0.0014	0.0046	0.0130	0.0022251	344	154602	rs201906257	0.0014	0.0014	0.0010	0.0018	0.0120	0.0014	0.0013	0.0114	0.0111	0.0002	0.0014	0.0050	5.05e-05	7.495e-05	0.0054	0.0006	0.0019	0.0120	0.0011	0.0011	0.0010	0.0012	0.0104	0.0010	0.0009	0.0081	0.0073	0.0002	0	0.0009	0.0046	0	0	0.0068	0.0010	0.0028	0.0104	0.293	0.14843	T	0.303	0.20164	T	0.04	0.21238	B	0.102	0.30857	B	0.000014	0.62929	D	0.179778	0.972853	0.38979	D	2.3	0.65703	M	.	.	.	-1.71	0.40660	N	0.537	0.56919	-0.9756	0.35993	T	0.125	0.43028	T	9	0.012631506	0.00271	T	.	.	.	0.340	0.66202	.	.	0.198222871337	0.19423	0.38801875383540524	0.38716	0.484728417222	0.47373	0.586839914322	0.51049	T	0.045821	0.27239	T	-0.317096	0.07139	T	-0.217875	0.52942	T	0.0239845453986895	0.01143	T	0.946005	0.79398	D	0.13417049	0.31182	0.108112514	0.26037	0.13417049	0.31182	0.108112514	0.26037	-8.092	0.62027	D	.	.	0.107	0.21616	B	.;.;.;.	.;.;.;.	3.128645	0.42264	21.5	0.95595567329373277	0.27324	0.91225	0.53106	D	AEFBI	0.445405	0.50190	N	-0.151747385742028	0.35160	2.016076	0.0128654453405862	0.40310	2.403735	0.0186964224830056	0.13087	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.93	3.68	0.41359	3.615000	0.53908	6.008000	0.52598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7027:0.1517:0.0:0.1456	7.105	0.24539	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.012195	0.015152	0.05	1432.43	34	chr5	65660736	.	A	G	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.238;DP=419;ExcessHet=0;FS=4.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.081;SOR=1.12	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	9	0	1	0
chr5	65662117	65662117	C	A	exonic	TRAPPC13	.	nonsynonymous SNV	TRAPPC13:NM_001365342:exon9:c.C476A:p.P159H,TRAPPC13:NM_001365343:exon9:c.C476A:p.P159H,TRAPPC13:NM_001093756:exon10:c.C947A:p.P316H,TRAPPC13:NM_001243737:exon10:c.C947A:p.P316H,TRAPPC13:NM_001093755:exon11:c.C965A:p.P322H,TRAPPC13:NM_024941:exon11:c.C965A:p.P322H	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0150671539696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.229	0.25210	T	0.999	0.77913	D	0.947	0.73562	D	0.000001	0.84330	D	0.098476	1	0.81001	D	2.885	0.83555	M	.	.	.	-4.69	0.79743	D	0.808	0.80866	-0.2052	0.77536	T	0.449	0.78425	T	9	0.7833786	0.78041	D	0.015067	0.35586	T	0.513	0.79156	0.545	0.65873	0.262679179196	0.25893	0.6949594956694641	0.69436	1.27824070205	0.82465	0.834807634354	0.87300	D	0.403088	0.75993	T	0.43029	0.91545	D	0.380305	0.91440	D	0.987336924581582	0.77850	D	0.940306	0.77472	D	0.3045037	0.53306	0.41158703	0.65386	0.3045037	0.53306	0.41158703	0.65386	-9.757	0.74763	D	.	.	0.302	0.61750	B	.;.;.;.	.;.;.;.	5.111087	0.85445	28.6	0.99602940714994226	0.74338	0.99072	0.90815	D	AEFGBI	0.868108	0.78811	D	0.821911345905532	0.87455	9.224197	0.807347642672689	0.90300	10.34478	0.999999999346555	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	7.388000	0.79070	7.719000	0.67224	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.610	0.95596	896	0.25515	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1909.14	33	chr5	65662117	.	C	A	1909.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.427;DP=441;ExcessHet=0.2348;FS=3.542;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.063;SOR=0.979	GT:AD:DP:GQ:PL	0/1:40,37:77:99:921,0,942	8	0	2	0
chr5	65708528	65708528	G	A	exonic	SGTB	.	nonsynonymous SNV	SGTB:NM_019072:exon4:c.C235T:p.P79S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0110929457332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.48186	D	0.163	0.31125	T	0.004	0.12183	B	0.017	0.18140	B	0.022554	0.01575	N	2.715780	0.999999	0.58761	D	1.245	0.31408	L	-0.08	0.63911	T	-3.72	0.74427	D	0.399	0.43995	-1.0812	0.07118	T	0.194	0.54768	T	10	0.22070292	0.38774	T	0.011093	0.28353	T	0.144	0.38394	0.21	0.12781	0.515558578274	0.51199	0.3055252585146788	0.30465	0.753329412247	0.63888	0.504139602184	0.39404	T	0.31376	0.68549	T	-0.0433147	0.45455	T	-0.299995	0.44726	T	0.782053351402283	0.45179	D	0.832317	0.50011	T	0.108163334	0.25575	0.16338198	0.37904	0.108163334	0.25575	0.16338198	0.37903	-2.775	0.07955	T	.	.	0.080	0.09288	B	.;.	.;.	2.427035	0.31214	18.67	0.99485598754376936	0.67124	0.91594	0.53855	D	AEFBCI	0.406952	0.47923	N	-0.249062288760588	0.31140	1.743214	-0.0853263700545862	0.35995	2.08929	0.0630633438129852	0.15283	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.17	3.31	0.37025	5.011000	0.63768	4.462000	0.43463	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1391:0.7165:0.1445	11.17	0.47793	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	849.43	44	chr5	65708528	.	G	A	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.391;DP=402;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.441;SOR=0.361	GT:AD:DP:GQ:PL	0/1:33,41:74:99:861,0,841	9	0	1	0
chr5	67183240	67183240	C	G	exonic	CD180	.	nonsynonymous SNV	CD180:NM_005582:exon3:c.G1603C:p.D535H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0302429804276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0003	2.35e-06	1.7e-06	6.096e-05	2.522e-05	5.974e-05	0	0	0	0	0.0003	0	4.968e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.335	0.18286	T	0.831	0.46109	P	0.331	0.42107	B	0.493606	0.05050	N	1.318910	1	0.08975	N	1.995	0.54099	M	0.42	0.56937	T	-0.69	0.19720	N	0.116	0.10483	-0.9023	0.47749	T	0.111	0.39912	T	10	0.16455913	0.30782	T	0.030243	0.52598	D	0.058	0.16647	.	.	0.716849003213	0.71436	0.3032965129840336	0.30242	0.202067841752	0.22620	0.244355380535	0.03197	T	0.048609	0.28067	T	-0.256232	0.13345	T	-0.605836	0.12326	T	0.167713921517034	0.18423	T	0.734627	0.35069	T	0.12790844	0.29918	0.07742915	0.17249	0.12790844	0.29917	0.07742915	0.17248	-3.775	0.20432	T	.	.	0.102	0.17785	B	.	.	-0.139396	0.03414	0.620	0.54542589138377984	0.05159	0.02870	0.07642	N	AEFDBI	0.060966	0.11623	N	-0.792829276673724	0.13496	0.6652633	-1.03626404013561	0.08995	0.4451462	0.999998814246035	0.74766	0.536767	0.22168	0	0.383324	0.06291	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.95	-6.85	0.01521	-0.215000	0.09284	-1.785000	0.04731	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.1613:0.1418:0.0788:0.6181	4.301	0.10369	954	0.10045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2006.43	44	chr5	67183240	.	C	G	2006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=539;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.594;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	9	0	1	0
chr5	67184047	67184047	C	-	exonic	CD180	.	frameshift deletion	CD180:NM_005582:exon3:c.796delG:p.A266Pfs*40	.	438	1069	15	0	0	15	0.00696702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0009	0	0.0009	0	0.0014	0.0010	0	0.0014	0.0008085	125	154602	rs748378294	0.0010	0.0010	0.0009	0.0011	0.0036	0.0009	0.0009	0.0024	0.0020	0.0002	0.0010	0.0053	0	0.0012	0.0036	0.0008	0.0011	0.0021	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0006	0.0014	0.0011	0.0001	0	0.0007	0.0058	0	0.0018	0.0034	0.0007	0.0005	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008560	0.010101	0.006793	0.008772	0.000000	0.000000	0.009146	0.011364	0.05	1616.39	44	chr5	67184046	.	GC	G	1616.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.1;DP=674;ExcessHet=0;FS=2.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.647;SOR=0.962	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	9	0	1	0
chr5	69282761	69282761	A	G	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_176816:exon12:c.T1504C:p.S502P,CCDC125:NM_001297697:exon13:c.T1129C:p.S377P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0217005048708	.	.	8.284e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs772395128	6.901e-07	6.84e-07	0	1.389e-06	9.023e-07	0	0	.	.	0	0	0	0	0	0	9.023e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	0.996	0.68779	D	0.953	0.69275	D	0.089465	0.20426	N	0.457585	1	0.29477	N	2.56	0.74772	M	0.36	0.57880	T	-2.32	0.51478	N	0.364	0.40665	-0.8202	0.53921	T	0.265	0.63652	T	10	0.15316424	0.28917	T	0.021701	0.44504	T	0.223	0.52023	0.173	0.07894	0.277730125212	0.27379	0.1623092405321315	0.16150	0.150254237607	0.16946	0.37063986063	0.20923	T	0.016616	0.13699	T	0.0669078	0.60471	T	-0.141668	0.59974	T	0.389276564687664	0.28537	T	.	.	.	0.17072551	0.37664	0.26639032	0.52483	0.17072551	0.37664	0.26639032	0.52482	-10.803	0.78566	D	.	.	0.136	0.44860	B	.;.;.	.;.;.	3.697404	0.52717	23.3	0.99042793676589636	0.51073	0.72642	0.35549	D	AEFDBI	0.165794	0.29232	N	0.0121325804331214	0.42405	2.554483	-0.132299589107021	0.34097	1.957535	0.964725092143671	0.28780	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.15	2.72	0.31179	1.775000	0.38213	6.051000	0.53092	-0.041000	0.17446	0.997000	0.40164	1.000000	0.68203	0.975000	0.56047	0.689:0.1592:0.0:0.1518	6.757	0.22707	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	476.43	33	chr5	69282761	.	A	G	476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=353;ExcessHet=0;FS=1.389;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.092;SOR=1.096	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	9	0	1	0
chr5	69414206	69414206	C	-	exonic	RAD17	.	frameshift deletion	RAD17:NM_133339:exon16:c.1960delC:p.P654Lfs*18,RAD17:NM_133340:exon16:c.1432delC:p.P478Lfs*18,RAD17:NM_133341:exon16:c.1669delC:p.P557Lfs*18,RAD17:NM_002873:exon17:c.1927delC:p.P643Lfs*18,RAD17:NM_133344:exon17:c.1927delC:p.P643Lfs*18,RAD17:NM_001278622:exon18:c.1927delC:p.P643Lfs*18,RAD17:NM_133342:exon18:c.1927delC:p.P643Lfs*18,RAD17:NM_133343:exon18:c.1927delC:p.P643Lfs*18,RAD17:NM_133338:exon19:c.1927delC:p.P643Lfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs767218047	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1281.39	93	chr5	69414205	.	GC	G	1281.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.379;DP=404;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-2.475;SOR=0.909	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	9	0	1	0
chr5	71510931	71510931	C	G	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon17:c.C3839G:p.A1280G	.	9	1512	1	0	0	1	0.000330579	.	.	.	1171443	not_provided|not_specified|BDP1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	.	.	0.00599042	0.0024	0	0.0003	0	0	1.504e-05	0.0022	0.0168	0.002128	329	154602	rs555865529	0.0011	0.0011	0.0006	0.0015	0.0173	0.0010	0.0010	0.0166	0.0163	2.987e-05	2.236e-05	0	5.039e-05	0	0.0002	5.396e-06	0.0012	0.0173	0.0006	0.0006	0.0003	0.0009	0.0183	0.0005	0.0005	0.0152	0.0140	0	0	0	0	0.0004	0	0	1.471e-05	0.0005	0.0183	0.206	0.19927	T	0.314	0.19480	T	0.0	0.02946	B	0.001	0.04355	B	0.896809	0.07330	N	1.072970	1	0.08975	N	1.43	0.35840	L	2.74	0.11730	T	-1.52	0.36980	N	0.094	0.07398	-0.9418	0.42330	T	0.022	0.09284	T	10	0.0031118393	0.00052	T	.	.	.	0.014	0.01968	.	.	0.0297737177859	0.01360	0.03286924212736813	0.03234	0.037982840304	0.04033	0.217150896788	0.01152	T	0.006974	0.06393	T	-0.712906	0.00031	T	-0.783191	0.02359	T	0.00989748419030052	0.00131	T	0.564843	0.19943	T	0.031014297	0.02865	0.05066168	0.07996	0.031014297	0.02864	0.05066168	0.07995	-6.058	0.46762	T	.	.	0.122	0.25396	B	.	.	0.908746	0.12830	9.344	0.76096198517447533	0.11332	0.06549	0.12562	N	AEFBI	0.038888	0.05569	N	-1.08793344467192	0.06864	0.3172266	-1.14343831158023	0.06886	0.3330235	0.03826123898675	0.14339	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.57	0.596	0.16678	-0.489000	0.06570	-0.339000	0.09830	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.398000	0.26737	0.202:0.4609:0.2154:0.1216	1.859	0.02992	440	0.80101	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1161.43	104	chr5	71510931	.	C	G	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.364;DP=693;ExcessHet=0;FS=2.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-1.832;SOR=1.005	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr5	71560035	71560035	A	G	exonic	BDP1	.	nonsynonymous SNV	BDP1:NM_018429:exon37:c.A7294G:p.T2432A	.	12	1494	16	0	0	16	0.00532623	.	.	.	3509742	BDP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0046877141636	0.0003	0.000998403	0.0008	0	0.0002	0.0002	0.0005	0.0005	0.0034	0.0030	0.0006727	104	154602	rs193246924	0.0004	0.0004	0.0003	0.0005	0.0035	0.0004	0.0004	0.0027	0.0026	2.987e-05	0.0006	0.0013	7.559e-05	0.0007	0.0035	0.0002	0.0006	0.0030	0.0004	0.0004	0.0004	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	7.22e-05	0	0.0013	0.0009	0	0.0004	0	0.0003	0.0014	0.0025	0.022	0.48642	D	0.235	0.24767	T	0.612	0.39723	P	0.197	0.36707	B	0.089060	0.20448	N	0.414227	1	0.08975	N	1.59	0.40313	L	3.65	0.04267	T	-1.66	0.39692	N	0.113	0.10056	-1.0026	0.29168	T	0.015	0.05994	T	10	0.0037195086	0.00069	T	0.004688	0.11660	T	0.042	0.11227	.	.	0.132336055621	0.12781	0.09146985494391016	0.09079	0.162580693133	0.18349	0.243296355009	0.03095	T	0.015198	0.12791	T	-0.621145	0.00108	T	-0.669623	0.07632	T	0.021548904028548	0.00859	T	0.592541	0.21854	T	0.05239237	0.09765	0.05517199	0.09629	0.05239237	0.09764	0.05517199	0.09628	-3.561	0.17296	T	.	.	0.107	0.19919	B	.	.	1.922680	0.24416	16.39	0.9858064117121873	0.43232	0.04950	0.10712	N	AEFGBI	0.034544	0.04297	N	-0.264636589968389	0.30524	1.702762	-0.30138243378528	0.28054	1.561225	0.0183647452203762	0.13050	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	2.74	0.31352	0.900000	0.28062	1.051000	0.23638	0.691000	0.84096	0.004000	0.16614	0.276000	0.24078	0.978000	0.57271	0.6366:0.1854:0.0:0.178	5.344	0.15303	423	0.81269	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1632.43	33	chr5	71560035	.	A	G	1632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.547;DP=447;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.37;SOR=0.6	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	9	0	1	0
chr5	71641018	71641018	G	A	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_001363147:exon10:c.G901A:p.V301M,MCCC2:NM_022132:exon11:c.G1015A:p.V339M	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive	14	1489	19	0	0	19	0.00633967	.	.	YES	200099	Inborn_genetic_diseases|Methylcrotonyl-CoA_carboxylase_deficiency|MCCC2-related_disorder|See_cases|3-methylcrotonyl-CoA_carboxylase_2_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6|.|.|MONDO:MONDO:0008862,MedGen:C1859499,OMIM:210210,Orphanet:6|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.951	0.552902967619	0.0007	0.000399361	0.0007	0.0004	0.0008	0.0001	0	0.0009	0.0011	0.0004	0.0006209	96	154602	rs150591260	0.0007	0.0007	0.0007	0.0007	0.0161	0.0006	0.0006	0.0135	0.0125	0.0005	0.0011	0.0019	0	0	0.0161	0.0006	0.0013	0.0003	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0012	0.0020	0	0	0.0170	0.0007	0.0028	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.053606	1	0.81001	D	4.095	0.97289	H	-3.52	0.97902	D	-2.77	0.58733	D	0.926	0.95491	1.044	0.97984	D	0.980	0.99369	D	10	0.69405407	0.72032	D	0.552903	0.95886	D	0.951	0.99091	.	.	0.988532514602	0.98841	0.8852258778779706	0.88491	0.496460688203	0.48154	0.741402387619	0.73180	T	0.30111	0.99592	T	0.308147	0.83604	D	0.613507	0.97333	D	0.269726306200027	0.23736	T	0.952105	0.82030	D	0.8424749	0.86786	0.74256057	0.84783	0.8380579	0.86471	0.7515656	0.85317	-11.1	0.80203	D	0.5977790462010975	0.66470	0.503	0.64736	A	.;.;.	.;.;.	5.403562	0.90479	31	0.99862142229508544	0.94093	0.99135	0.91741	D	AEFBI	0.922878	0.89852	D	1.12939152535828	0.98643	18.89092	1.02725061112506	0.99087	20.61348	0.999999719922571	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.65	5.65	0.86881	9.280000	0.94994	11.743000	0.95236	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.503	0.90839	441	0.80015	Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.05	1143.43	35	chr5	71641018	.	G	A	1143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.175;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1227	9	0	1	0
chr5	71652672	71652672	T	G	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_001363147:exon15:c.T1378G:p.S460A,MCCC2:NM_022132:exon16:c.T1492G:p.S498A	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.143052889841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.46910	D	0.099	0.38891	T	0.005	0.12996	B	0.052	0.25551	B	0.000000	0.84330	D	0.053861	0.999976	0.53665	D	1.44	0.36004	L	-3.17	0.95458	D	-1.79	0.42191	N	0.38	0.42149	0.428	0.89509	D	0.775	0.92346	D	10	0.4120869	0.56294	T	0.143053	0.82540	D	0.438	0.74235	0.46	0.52753	0.880985413979	0.87981	0.7629712472092655	0.76245	0.113105756222	0.12766	0.417387843132	0.27478	T	0.767617	0.93755	D	0.138735	0.68205	D	-0.0384935	0.67803	D	0.907515645027161	0.56182	D	0.818018	0.47665	T	0.25742579	0.48787	0.20247692	0.44278	0.25742579	0.48787	0.20247692	0.44277	-8.248	0.62747	D	.	.	0.108	0.26138	B	.;.	.;.	3.666498	0.52110	23.2	0.99261311148527998	0.57222	0.93273	0.57778	D	AEFGBCI	0.745994	0.68850	D	0.0100735201330705	0.42313	2.54708	0.191375298577825	0.49371	3.141292	0.977326446830824	0.29810	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.44	5.44	0.79348	5.514000	0.66760	3.397000	0.38105	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	14.479	0.67144	452	0.79239	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	433.43	33	chr5	71652672	.	T	G	433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=362;ExcessHet=0;FS=2.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.685;SOR=0.982	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	9	0	1	0
chr5	72195955	72195955	T	G	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.T2222G:p.L741R,MAP1B:NM_005909:exon5:c.T2600G:p.L867R	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0005	0.00239617	0.0039	0	8.648e-05	0	0.0337	0.0031	0.0089	0.0021	0.0031824	492	154602	rs150896759	0.0018	0.0018	0.0018	0.0019	0.0020	0.0018	0.0018	0.0017	0.0016	2.987e-05	0	0	0	0.0320	0.0005	0.0006	0.0023	0.0020	0.0027	0.0027	0.0015	0.0040	0.0025	0.0025	0.0024	0.0014	0.0011	0	0	0	0	0	0.0315	0	0.0009	0.0014	0.0025	0.06	0.37326	T	0.601	0.07919	T	0.001	0.07471	B	0.001	0.04355	B	0.646174	0.10555	N	0.807089	1	0.08975	N	1.01	0.25309	L	3.82	0.03728	T	0.06	0.06253	N	0.178	0.19190	-0.9320	0.43844	T	0.005	0.01725	T	10	0.0030899346	0.00051	T	.	.	.	0.036	0.09122	.	.	0.123314135267	0.11883	0.2455701542903947	0.24471	0.35949799997	0.37640	0.393882393837	0.24215	T	0.084587	0.37310	T	-0.611001	0.00125	T	-0.65191	0.08822	T	0.00754195454240761	0.00087	T	0.563244	0.19836	T	0.04972647	0.08875	0.08025861	0.18140	0.07822351	0.17800	0.09539694	0.22622	-5.875	0.45221	T	.	.	0.074	0.05145	B	.	.	2.326007	0.29792	18.23	0.76038224825349299	0.11309	0.33183	0.24767	N	AEFBI	0.280408	0.39423	N	-1.20215719447256	0.04969	0.2254256	-1.22567146967473	0.05500	0.2622422	0.999714369878038	0.42101	0.706548	0.73137	0	0.596491	0.49125	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-1.87	0.07317	0.849000	0.27375	0.178000	0.15598	-0.236000	0.07595	0.002000	0.15269	0.892000	0.27844	0.049000	0.15107	0.1193:0.0668:0.3719:0.442	4.231	0.10058	234	0.90879	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2115.43	164	chr5	72195955	.	T	G	2115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.113;DP=551;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=1.07;SOR=0.847	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,117,1366	9	0	1	0
chr5	72199873	72199873	C	T	exonic	MAP1B	.	nonsynonymous SNV	MAP1B:NM_001324255:exon4:c.C6140T:p.T2047M,MAP1B:NM_005909:exon5:c.C6518T:p.T2173M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0602331980359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.000000	0.999995	0.58761	D	2.75	0.80375	M	2.87	0.10386	T	-4.45	0.77717	D	0.694	0.69913	-1.0741	0.08535	T	0.103	0.38069	T	10	0.7273006	0.74060	D	0.060233	0.67932	D	0.339	0.66106	0.296	0.26041	0.516939936371	0.51336	0.40096626666677315	0.40011	0.887394481255	0.70061	0.833328962326	0.87074	D	0.482487	0.81061	T	0.103266	0.64643	D	-0.0894422	0.64203	T	0.99288672208786	0.83488	D	0.977902	0.92154	D	0.28530714	0.51552	0.42683366	0.66447	0.28530714	0.51552	0.42683366	0.66447	-5.002	0.36861	T	.	.	0.826	0.78551	P	.	.	4.669687	0.74619	26.2	0.99807547953580389	0.89174	0.96240	0.68181	D	AEFBCI	0.916023	0.88162	D	0.906990263146559	0.92099	11.23203	0.889474668067767	0.95096	13.30891	1.0	0.98316	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.741806	0.99463	0	.	.	5.82	5.82	0.92740	7.905000	0.86479	7.735000	0.67855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	20.095	0.97838	234	0.90879	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3146.43	228	chr5	72199873	.	C	T	3146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=587;ExcessHet=0;FS=7.252;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.92;SOR=0.703	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr5	73447402	73447429	CGGCGGCCGCGCCGTGCGGTGGCGGGGG	-	exonic	FOXD1	.	frameshift deletion	FOXD1:NM_004472:exon1:c.934_961del:p.P312Sfs*252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	59.1	.	chr5	73447401	.	TCGGCGGCCGCGCCGTGCGGTGGCGGGGG	T	59.1	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.524;DP=25;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.524;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	0	1	5
chr5	73568301	73568301	A	G	exonic	UTP15	.	nonsynonymous SNV	UTP15:NM_001284430:exon3:c.A100G:p.N34D,UTP15:NM_032175:exon3:c.A157G:p.N53D	.	487	1034	1	0	0	1	0.000483325	.	.	.	3487796	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.0133826444156	0.0005	0.000199681	0.0003	0	8.652e-05	0	0.0005	0.0004	0.0011	0.0002	0.0002911	45	154602	rs139096826	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	0.0001	0	0	0.0006	0	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	6.533e-05	0	0	9.422e-05	0	0.0004	0	0	0.169	0.22920	T	0.026	0.55759	D	0.799	0.44910	P	0.214	0.37471	B	0.000000	0.84330	D	0.089021	0.999976	0.81001	D	1.585	0.39878	L	2.24	0.18083	T	-1.68	0.40082	N	0.641	0.70878	-1.0969	0.04487	T	0.031	0.13504	T	10	0.106333196	0.19700	T	0.013383	0.32738	T	0.101	0.28911	.	.	0.387475297304	0.38358	0.7065261317910583	0.70594	0.544725754754	0.51518	0.717887103558	0.69738	T	0.044518	0.26842	T	-0.34114	0.05310	T	-0.397799	0.33641	T	0.0512607060372829	0.05720	T	0.872513	0.57956	D	0.24368821	0.47310	0.1821432	0.41123	0.24368821	0.47310	0.1821432	0.41122	-4.979	0.36611	T	.	.	0.184	0.45421	B	.;.;.	.;.;.	2.980449	0.39752	21.0	0.99335296029079323	0.59934	0.97095	0.72660	D	AEBI	0.731821	0.67878	D	0.16361378353857	0.49458	3.145995	0.252886023419325	0.52813	3.453711	0.999999945192141	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.55	4.36	0.51643	5.717000	0.68096	9.263000	0.79575	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8618:0.1382:0.0:0.0	12.645	0.56093	961	0.08552	.;WD40-repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	989.43	34	chr5	73568301	.	A	G	989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=343;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.604;SOR=0.374	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,898	9	0	1	0
chr5	73909530	73909530	C	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon26:c.C3341G:p.S1114C,ARHGEF28:NM_001080479:exon34:c.C4280G:p.S1427C,ARHGEF28:NM_001177693:exon34:c.C4280G:p.S1427C	.	426	1086	9	1	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00497760331906	.	.	0.0003	0	0	0	0	7.08e-05	0	0.0013	0.0001164	18	154602	rs757057591	7.472e-05	7.524e-05	3.435e-05	0.0001	0.0010	6.319e-05	5.873e-05	0.0008	0.0008	0	0	0	0	1.936e-05	0.0003	1.449e-05	5.011e-05	0.0010	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0006	0.058	0.40068	T	0.181	0.40110	T	0.001	0.15093	B	0.012	0.16012	B	.	.	.	.	0.999855	0.20249	N	1.095	0.27400	L	1.96	0.22270	T	-2.83	0.59710	D	0.127	0.12055	-0.9800	0.35002	T	0.032	0.13723	T	9	0.013027549	0.00278	T	0.004978	0.12566	T	0.033	0.08068	0.237	0.16760	0.0666544352282	0.05500	0.10015718809577799	0.09946	0.0689527278805	0.07720	0.290875166655	0.09050	T	0.133111	0.46359	T	-0.564479	0.00239	T	-0.644209	0.09365	T	0.0300075871527355	0.01990	T	0.69953	0.33490	T	0.08253104	0.19017	0.086306445	0.19986	0.08253104	0.19017	0.086306445	0.19986	-4.049	0.26592	T	.	.	0.071	0.05979	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.185632	0.05725	2.170	0.80065317674279401	0.13028	0.14393	0.18379	N	AEFDBI	0.139129	0.26063	N	-1.10787318017493	0.06502	0.2994971	-1.19341516494332	0.06019	0.2884928	0.999878075243496	0.44625	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.78	-4.78	0.02975	0.120000	0.15476	-1.395000	0.05540	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.176000	0.21171	0.2957:0.4876:0.2167:0.0	10.277	0.42692	800	0.44535	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1924.43	36	chr5	73909530	.	C	G	1924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.839;DP=478;ExcessHet=0;FS=6.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.07;SOR=0.359	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	9	0	1	0
chr5	75091304	75091304	A	C	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon22:c.T5258G:p.L1753R,ANKRD31:NM_001372053:exon23:c.T5429G:p.L1810R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.111300731309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.536115	0.32015	D	2.175	0.60977	M	0.62	0.53302	T	-2.16	0.48850	N	0.818	0.81360	-0.4146	0.71563	T	0.219	0.58201	T	7	0.32827377	0.50099	T	0.111301	0.78903	D	0.231	0.53208	0.592	0.72123	0.324436698001	0.32047	0.4334824194705021	0.43265	.	.	0.446837604046	0.31512	T	0.134526	0.46582	T	0.00921274	0.52917	T	-0.224543	0.52299	T	0.968923926353455	0.68410	D	0.765223	0.39255	T	0.68806475	0.77406	0.7303932	0.84070	0.68806475	0.77408	0.7303932	0.84071	-3.561	0.17296	T	.	.	0.768	0.75820	P	.;.	.;.	4.592418	0.72660	25.9	0.99692932394309353	0.80044	0.90900	0.52474	D	AEFBI	0.512492	0.54068	D	0.392221919617404	0.60999	4.295452	0.440081407134247	0.64082	4.655465	0.999986021535768	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	4.818000	0.62347	11.108000	0.86264	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	12.614	0.55925	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	924.43	34	chr5	75091304	.	A	C	924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=399;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.375;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr5	75118147	75118147	C	T	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon17:c.G3856A:p.A1286T,ANKRD31:NM_001372053:exon18:c.G4027A:p.A1343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0170466889119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.549	0.09522	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.79	0.46772	L	0.2	0.60111	T	-0.84	0.22944	N	0.2	0.22098	-0.9397	0.42664	T	0.156	0.48807	T	7	0.075415164	0.11654	T	0.017047	0.38587	T	0.030	0.07022	0.41	0.44559	0.16115917748	0.15686	0.059974397443567196	0.05937	.	.	0.255921125412	0.04417	T	0.001413	0.00874	T	-0.16856	0.25451	T	-0.479901	0.24457	T	0.102390711655354	0.12618	T	0.70163	0.31127	T	0.029978456	0.02583	0.05316264	0.08901	0.029978456	0.02582	0.05316264	0.08900	-2.696	0.07269	T	.	.	0.069	0.06756	B	.;.	.;.	0.698953	0.10679	7.373	0.95966972190481337	0.28317	0.01759	0.05532	N	AEFI	0.046822	0.07819	N	-0.47004577047244	0.23065	1.236072	-0.603180281463711	0.19411	1.041312	5.72977320847864E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.27	1.24	0.20416	0.071000	0.14461	0.026000	0.13662	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.1963:0.5195:0.1761:0.108	2.682	0.04781	806	0.43582	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	60.43	171	chr5	75118147	.	C	T	60.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.748;DP=682;ExcessHet=0;FS=63.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.74;SOR=6.184	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1080:.	9	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	338.25	123	chr5	75146001	.	A	G	338.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.389;DP=800;ExcessHet=2.8389;FS=86.742;InbreedingCoeff=-0.316;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.96;SOR=9.297	GT:AD:DP:GQ:PL	0/1:46,15:61:99:122,0,914	5	0	5	0
chr5	75511347	75511347	G	T	exonic	CERT1	.	nonsynonymous SNV	CERT1:NM_001130105:exon2:c.C245A:p.S82Y	.	.	.	.	.	.	.	.	.	.	.	2407272	Intellectual_disability,_autosomal_dominant_34	MONDO:MONDO:0014599,MedGen:C4225156,OMIM:616351	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0346819570572	.	.	.	.	.	.	.	.	.	.	.	.	.	rs993938595	2.875e-06	2.736e-06	5.673e-06	0	8.402e-05	6.7e-07	4.5e-07	2.227e-05	1.217e-05	0	0	0	8.402e-05	0	0	0	1.73e-05	0	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	0.009	0.15093	B	0.021	0.19346	B	.	.	.	.	1	0.27710	N	.	.	.	.	.	.	.	.	.	.	.	-1.0138	0.25720	T	0.058	0.24391	T	8	0.06787723	0.09521	T	0.034682	0.55837	D	.	.	0.431	0.48007	.	.	0.5350527773518703	0.53430	.	.	0.795366168022	0.81258	T	.	.	.	-0.339654	0.05412	T	-0.52016	0.20278	T	0.127537848380643	0.15153	T	0.394561	0.09893	T	.	.	.	.	.	.	.	.	-6.925	0.53484	T	.	.	0.17	0.37369	B	.	.	1.588151	0.20318	14.69	0.95107310514469812	0.26189	0.01525	0.05026	N	AEFDBHCIJ	0.065793	0.12852	N	-0.833093387859778	0.12471	0.6080358	-0.829869945204075	0.13773	0.7162765	0.999999086449972	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.49	1.66	0.23081	0.275000	0.18461	1.519000	0.27078	-0.232000	0.07691	0.000000	0.06391	0.975000	0.29991	0.769000	0.36481	0.104:0.3541:0.3781:0.1638	2.934	0.05455	927	0.17636	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1346.43	33	chr5	75511347	.	G	T	1346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=0.719;SOR=0.706	GT:AD:DP:GQ:PL	0/1:17,49:66:99:1358,0,305	9	0	1	0
chr5	75702676	75702676	C	T	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.G367A:p.D123N,POC5:NM_001099271:exon5:c.G442A:p.D148N	.	436	1085	1	0	0	1	0.000460617	.	.	.	1520611	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0214846013023	0.0004	0.000199681	0.0003	0	0	0.0009	0	0.0004	0	0.0002	0.0001876	29	154602	rs200926172	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0004	0.0003	0	4.494e-05	0.0026	0.0006	0	0.0007	7.65e-05	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.232e-05	7.29e-05	5.088e-05	0	0	0	0.0029	0.0004	0	0	0.0001	0.0005	0.0004	0.018	0.91255	D	0.01	0.67890	D	0.145	0.39250	B	0.016	0.27432	B	0.000114	0.50451	N	0.232228	0.976198	0.25389	N	1.79	0.46772	L	1.82	0.51228	T	-1.73	0.79316	N	0.09	0.10483	-0.9704	0.37115	T	0.112	0.40168	T	10	0.013289034	0.00282	T	0.021485	0.44265	T	0.118	0.32913	.	.	0.654029547454	0.65114	0.31530997786085874	0.31443	0.362347261867	0.37892	0.356939077377	0.18939	T	0.011832	0.24916	T	-0.548857	0.00296	T	-0.611613	0.11854	T	0.0482356310021544	0.05185	T	0.79772	0.46890	T	0.10876508	0.25717	0.12701267	0.30581	0.10876508	0.25716	0.12701267	0.30580	-4.942	0.47890	T	.	.	0.090	0.23570	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.138970	0.27237	17.39	0.99014420286627269	0.50441	0.93705	0.58956	D	AEFBI	0.211566	0.33734	N	-0.279219834143755	0.29952	1.665616	-0.275246820103323	0.28915	1.615996	0.997745849247702	0.35977	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.65	3.88	0.43959	3.241000	0.51074	3.892000	0.40300	0.599000	0.40250	0.993000	0.37899	0.999000	0.35428	0.218000	0.22407	0.0:0.8608:0.0:0.1392	11.985	0.52432	957	0.09725	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1002.43	102	chr5	75702676	.	C	T	1002.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.341;SOR=0.714	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,117,1755	9	0	1	0
chr5	75702781	75702781	G	A	exonic	POC5	.	nonsynonymous SNV	POC5:NM_152408:exon4:c.C262T:p.P88S,POC5:NM_001099271:exon5:c.C337T:p.P113S	.	432	1060	28	2	0	32	0.0148699	.	.	.	1600307	not_provided|Retinal_dystrophy|Optic_atrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000648,Human_Phenotype_Ontology:HP:0007751,Human_Phenotype_Ontology:HP:0007855,MONDO:MONDO:0003608,MedGen:C0029124	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0026	0.0101837	0.0130	0.0002	0.0092	0.0409	0.0337	0.0084	0.0212	0.0163	0.0067011	1036	154602	rs79392300	0.0058	0.0058	0.0054	0.0061	0.0172	0.0057	0.0056	0.0161	0.0157	0.0008	0.0046	0.0113	0.0172	0.0226	0.0148	0.0039	0.0083	0.0140	0.0060	0.0060	0.0048	0.0073	0.0237	0.0057	0.0056	0.0203	0.0190	0.0010	0.0011	0.0041	0.0150	0.0237	0.0244	0.0204	0.0041	0.0109	0.0139	0.368	0.11623	T	0.658	0.13993	T	0.008	0.14655	B	0.012	0.16012	B	0.387173	0.13307	N	0.754894	0.98446	0.40149	D	2.135	0.59519	M	1.98	0.28604	T	-0.61	0.23808	N	0.056	0.03613	-1.0156	0.25143	T	0.021	0.09009	T	10	0.0016588569	0.00020	T	.	.	.	0.037	0.09474	.	.	0.0986583533028	0.09354	0.5153100026487207	0.51453	0.062071779075	0.06909	0.241766959429	0.02951	T	7.75E-4	0.14314	T	-0.648449	0.00074	T	-0.683279	0.06785	T	0.00539200280690588	0.00058	T	0.665433	0.28129	T	0.01881412	0.00405	0.02529857	0.00570	0.01881412	0.00404	0.02529857	0.00570	-2.72	0.07472	T	.	.	0.087	0.14062	B	.;.;.	.;.;.	0.863859	0.12365	8.902	0.26308428443095727	0.01254	0.11070	0.16387	N	AEFBI	0.050338	0.08788	N	-1.53072416774126	0.01651	0.07220092	-1.48750863070593	0.02446	0.1125266	0.698364834324272	0.22667	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.65	-0.667	0.10823	0.094000	0.14946	0.505000	0.19029	-0.110000	0.15115	0.061000	0.21800	0.333000	0.24383	0.350000	0.25659	0.2301:0.1778:0.4138:0.1783	1.892	0.03053	957	0.09725	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009073	0.015152	0.001359	0.014620	0.000000	0.008772	0.006098	0.018939	0.05	456.43	58	chr5	75702781	.	G	A	456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.27;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=0.151;SOR=0.758	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr5	76195023	76195023	G	A	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon3:c.G685A:p.G229R,SV2C:NM_014979:exon3:c.G685A:p.G229R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.720	0.0903146259498	.	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs780371830	7.525e-06	7.524e-06	8.168e-06	6.876e-06	2.519e-05	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	3.827e-05	2.519e-05	0	0	8.094e-06	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.031	0.54159	D	0.938	0.52538	P	0.751	0.56062	P	0.000000	0.84330	D	0.052716	1	0.81001	D	3.145	0.88303	M	-0.82	0.74053	T	-2.4	0.54702	N	0.879	0.87699	0.298	0.87534	D	0.579	0.84822	D	10	0.9812104	0.98134	D	0.090315	0.75495	D	0.720	0.90101	0.954	0.99484	0.933797830941	0.93311	0.973204087033709	0.97309	0.646509102496	0.58061	0.787425398827	0.80051	T	0.405374	0.86014	T	0.335071	0.85504	D	0.24353	0.85315	D	0.970975399017334	0.69145	D	0.965203	0.87125	D	0.6108389	0.73273	0.58366966	0.75861	0.6108389	0.73274	0.58366966	0.75862	-17.04	0.98945	D	.	.	0.994	0.95244	P	.;.	.;.	5.996971	0.94296	34	0.9993955637934645	0.99734	0.96791	0.70958	D	AEFGBI	0.853233	0.77018	D	0.802961321153121	0.86290	8.838331	0.776796207181667	0.88137	9.47102	0.999999998301547	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	5.945000	0.69938	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.254	0.93925	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1183.43	34	chr5	76195023	.	G	A	1183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.682;DP=425;ExcessHet=0;FS=2.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.38;SOR=0.747	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1176	9	0	1	0
chr5	76285243	76285243	C	T	exonic	SV2C	.	nonsynonymous SNV	SV2C:NM_001297716:exon5:c.C995T:p.S332F,SV2C:NM_014979:exon5:c.C995T:p.S332F	.	424	1074	23	1	0	25	0.0115048	.	.	.	2827844	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0163521778605	0.0053	0.00219649	0.0046	0.0003	0.0023	0	0.0021	0.0061	0.0078	0.0060	0.0047153	729	154602	rs149463986	0.0059	0.0059	0.0057	0.0060	0.0113	0.0058	0.0057	0.0091	0.0083	0.0008	0.0027	0.0011	2.519e-05	0.0030	0.0113	0.0067	0.0045	0.0060	0.0042	0.0042	0.0043	0.0040	0.0068	0.0039	0.0038	0.0063	0.0061	0.0010	0	0.0039	0.0012	0	0.0023	0.0170	0.0068	0.0062	0.0054	0.175	0.22400	T	0.189	0.29843	T	0.0	0.02946	B	0.005	0.11217	B	0.022539	0.26616	N	0.412562	0.99982	0.49512	D	0.02	0.07987	N	0.39	0.57419	T	-0.57	0.18042	N	0.469	0.50598	-1.0600	0.11756	T	0.041	0.17742	T	10	0.009606004	0.00216	T	0.016352	0.37564	T	0.077	0.22490	.	.	0.405012372841	0.40113	0.8780365303129526	0.87770	0.166212738228	0.18754	0.5557076931	0.46661	T	0.054647	0.40875	T	-0.485639	0.00687	T	-0.463824	0.26184	T	0.00728564009858904	0.00083	T	0.660434	0.26965	T	0.07924424	0.18093	0.09455559	0.22386	0.07924424	0.18093	0.09455559	0.22386	-8.641	0.65359	D	.	.	0.071	0.17146	B	.;.	.;.	1.096062	0.14803	11.34	0.96057149006519471	0.28582	0.21526	0.21433	N	AEFI	0.212130	0.33785	N	-1.16349295452205	0.05561	0.2538508	-1.09862833464109	0.07728	0.3770321	0.0243861509171772	0.13575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.75	-2.21	0.06581	0.447000	0.21428	-0.860000	0.07144	-0.305000	0.06155	0.097000	0.22731	0.000000	0.08366	0.990000	0.65344	0.0:0.3758:0.559:0.0652	13.509	0.60956	906	0.23090	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.006793	0.002924	0.000000	0.000000	0.012195	0.003788	0.05	1488.43	34	chr5	76285243	.	C	T	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.206;DP=466;ExcessHet=0;FS=2.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.627;SOR=0.983	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1330	9	0	1	0
chr5	76590467	76590467	G	A	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285460:exon7:c.G550A:p.V184I,IQGAP2:NM_006633:exon8:c.G700A:p.V234I	.	421	1067	33	1	0	35	0.0161365	.	.	.	721531	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0027	0.00978435	0.0062	0.0004	0.0035	0.0174	0.0008	0.0041	0.0088	0.0167	0.0058279	901	154602	rs147531108	0.0049	0.0049	0.0045	0.0054	0.0158	0.0048	0.0048	0.0151	0.0148	0.0007	0.0036	0.0159	0.0088	0.0018	0.0134	0.0038	0.0080	0.0158	0.0041	0.0041	0.0042	0.0040	0.0168	0.0038	0.0037	0.0138	0.0127	0.0008	0	0.0057	0.0144	0.0141	0.0016	0.0170	0.0037	0.0090	0.0168	0.241	0.17643	T	0.464	0.19188	T	0.0	0.02946	B	0.001	0.04355	B	0.008709	0.30705	N	0.381500	1	0.81001	D	0.095	0.08423	N	3.34	0.06063	T	0.46	0.03297	N	0.076	0.09772	-0.9004	0.47952	T	0.006	0.02131	T	10	0.0035094917	0.00063	T	.	.	.	0.012	0.01476	.	.	0.187945064343	0.18414	0.1174834492133751	0.11676	0.138224808436	0.15579	0.261363267899	0.05054	T	0.063779	0.32263	T	-0.632718	0.00092	T	-0.668658	0.07694	T	0.000572827696038485	0.00005	T	0.70313	0.31322	T	0.015900847	0.00164	0.029837972	0.01366	0.015900847	0.00164	0.029837972	0.01366	-3.59	0.17713	T	.	.	0.060	0.00949	B	.;.;.;.	.;.;.;.	-0.377305	0.02298	0.242	0.83716676497288312	0.14880	0.13282	0.17767	N	AEFGBCI	0.198798	0.32563	N	-1.19704248185327	0.05045	0.2290705	-1.18284413075194	0.06196	0.2974806	0.999999545259407	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.709663	0.75317	0	0.663205	0.64265	0	.	.	5.71	-3.5	0.04411	0.360000	0.19987	-1.118000	0.06277	-0.697000	0.04075	0.016000	0.19238	0.000000	0.08366	0.348000	0.25613	0.4657:0.3452:0.1891:0.0	6.325	0.20445	858	0.34001	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015609	0.000000	0.014946	0.005848	0.000000	0.034483	0.021341	0.026515	0.05	808.43	35	chr5	76590467	.	G	A	808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.53;DP=364;ExcessHet=0;FS=2.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=1.47;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr5	76618493	76618493	C	G	exonic	F2RL2	.	nonsynonymous SNV	F2RL2:NM_001256566:exon2:c.G148C:p.E50Q,F2RL2:NM_004101:exon2:c.G214C:p.E72Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0112722395922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997108352	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.154	0.28395	T	0.495	0.16280	T	0.022	0.18677	B	0.01	0.14941	B	0.431532	0.04707	N	1.321060	1	0.08975	N	1.845	0.48678	L	-0.07	0.63738	T	-0.51	0.15986	N	0.063	0.05414	-0.9928	0.31880	T	0.164	0.50094	T	10	0.0758363	0.11772	T	0.011272	0.28723	T	0.051	0.14325	0.329	0.31357	0.597098042045	0.59389	0.3401473192216402	0.33927	0.0546206269692	0.06044	0.239340156317	0.02732	T	0.067172	0.33134	T	-0.21587	0.18561	T	-0.547859	0.17532	T	0.0352957895614699	0.02858	T	0.660434	0.26965	T	0.092090495	0.21597	0.045952443	0.06296	0.092090495	0.21597	0.045952443	0.06295	-4.233	0.27226	T	.	.	0.086	0.10931	B	.;.	.;.	1.180046	0.15702	12.04	0.93977807329749996	0.24056	0.15915	0.19142	N	AEFBI	0.265745	0.38281	N	-0.582830629742811	0.19466	1.019021	-0.504063333757843	0.22041	1.195307	0.999846810878649	0.43971	0.562547	0.31514	0	0.547309	0.14657	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.11	2.97	0.33479	0.142000	0.15917	0.446000	0.18474	0.599000	0.40250	0.000000	0.06391	0.054000	0.21897	0.997000	0.79791	0.1164:0.5405:0.1782:0.1648	4.123	0.09586	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	640.43	35	chr5	76618493	.	C	G	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.286;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=-0.042;SOR=0.659	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr5	76627451	76627451	A	G	exonic	IQGAP2	.	nonsynonymous SNV	IQGAP2:NM_001285461:exon3:c.A222G:p.I74M,IQGAP2:NM_001285462:exon3:c.A222G:p.I74M,IQGAP2:NM_001285460:exon13:c.A1413G:p.I471M,IQGAP2:NM_006633:exon14:c.A1563G:p.I521M	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.0432638540728	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs754896825	4.133e-06	5.476e-06	6.861e-06	1.383e-06	.	1.49e-06	9.8e-07	.	.	0	0	0.0002	0	0	0	0	1.665e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.92824	D	0.999	0.90584	D	0.973	0.82059	D	0.000000	0.84330	D	0.051230	0.984651	0.46223	D	2.955	0.85029	M	0.83	0.47815	T	-2.32	0.55821	N	0.666	0.75834	-0.4935	0.68883	T	0.283	0.65478	T	10	0.4907403	0.60976	T	0.043264	0.60895	D	0.419	0.72855	0.57	0.69299	0.602402279407	0.59922	0.6711475042217172	0.67052	0.571411642991	0.53264	0.586928665638	0.51061	T	0.648344	0.89298	D	0.166244	0.70779	D	0.00102192	0.70403	D	0.83276093006134	0.48745	D	0.929907	0.78031	D	0.5145717	0.67946	0.5038829	0.71322	0.5145717	0.67947	0.5038829	0.71323	-8.914	0.77665	D	.	.	0.272	0.57890	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.686131	0.35051	19.80	0.99628720442383578	0.75898	0.79819	0.39629	D	AEFBI	0.438564	0.49790	N	0.339809323904124	0.58202	3.99133	0.215172417906464	0.50689	3.258351	0.989969587570186	0.31991	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.92	0.722	0.17379	0.840000	0.27253	1.697000	0.28107	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.5318:0.4682:0.0:0.0	11.699	0.50822	801	0.44448	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1886.43	36	chr5	76627451	.	A	G	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.074;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.86;ReadPosRankSum=-1.285;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1095:.	9	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	262.48	102	chr5	79044510	.	T	C	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.483;DP=737;ExcessHet=0.7463;FS=139.927;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.782;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:79044510_T_C:145,0,2790:79044510	7	0	3	0
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	262.48	37	chr5	79044511	.	G	A	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.903;DP=651;ExcessHet=0.7463;FS=113.664;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.757;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,16:96:99:0|1:79044510_T_C:145,0,2790:79044510	7	0	3	0
chr5	79729769	79729769	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C1004T:p.T335I	.	425	1089	7	1	0	9	0.00411523	.	.	.	699181	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0206097304681	0.0048	0.00259585	0.0037	0.0008	0.0033	0	0.0006	0.0058	0.0023	0.0002	0.0036998	572	154602	rs114648445	0.0055	0.0055	0.0056	0.0053	0.0067	0.0054	0.0053	0.0065	0.0065	0.0009	0.0045	0.0005	0	0.0009	0.0042	0.0067	0.0041	0.0002	0.0040	0.0040	0.0045	0.0036	0.0069	0.0038	0.0037	0.0063	0.0061	0.0011	0	0.0051	0.0006	0	0.0005	0.0034	0.0069	0.0071	0.0004	0.006	0.61437	D	0.017	0.60337	D	0.294	0.32391	B	0.084	0.29270	B	0.489480	0.05028	N	1.320480	1	0.08975	N	1.525	0.38595	L	0.94	0.43672	T	-2.43	0.53258	N	0.041	0.01421	-1.0121	0.26259	T	0.047	0.19958	T	10	0.003647387	0.00067	T	0.02061	0.43239	T	0.028	0.06331	.	.	0.126345400529	0.12197	0.15540991095291068	0.15461	0.062845761064	0.07001	0.268238008022	0.05912	T	0.022397	0.17275	T	-0.677556	0.00050	T	-0.740348	0.03876	T	0.0116400521053959	0.00178	T	0.659934	0.26896	T	0.06376495	0.13460	0.060388945	0.11494	0.06376495	0.13460	0.060388945	0.11493	-4.345	0.28802	T	.	.	0.178	0.38818	B	.	.	1.963413	0.24940	16.58	0.96431232832298719	0.29796	0.04836	0.10566	N	AEFBI	0.030879	0.03191	N	-0.869861143908913	0.11564	0.5587535	-0.869707876103559	0.12814	0.6613662	0.999376838953153	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	3.36	0.37579	0.434000	0.21212	0.391000	0.17890	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.186000	0.21481	0.2023:0.565:0.0:0.2327	3.333	0.06675	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.020202	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	1599.43	122	chr5	79729769	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.721;DP=933;ExcessHet=0;FS=1.4;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.804;SOR=0.542	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	9	0	1	0
chr5	79730516	79730516	A	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.A1751C:p.E584A	.	424	1069	29	0	0	29	0.0133826	.	.	.	735218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0021	0.00299521	0.0038	0.0008	0.0010	0	0.0009	0.0029	0.0067	0.0145	0.0034476	533	154602	rs200387533	0.0027	0.0027	0.0022	0.0032	0.0155	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0081	0.0016	0.0037	0.0155	0.0021	0.0021	0.0018	0.0024	0.0139	0.0019	0.0019	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0020	0.0014	0.0139	0.47	0.08483	T	0.105	0.38016	T	0.953	0.54283	P	0.556	0.49411	P	0.046976	0.23388	N	0.365645	0.997561	0.22606	N	2.6	0.76081	M	0.64	0.52867	T	-2.95	0.61580	D	0.349	0.39052	-0.9154	0.46168	T	0.132	0.44307	T	10	0.0025447905	0.00039	T	.	.	.	0.088	0.25558	.	.	0.544738774389	0.54127	0.2969565352826435	0.29608	0.290506961512	0.31456	0.32499268651	0.14178	T	0.107114	0.41905	T	-0.438145	0.01326	T	-0.389818	0.34572	T	0.0364199132738606	0.03054	T	0.738226	0.35599	T	0.19137003	0.40761	0.20814788	0.45104	0.19137003	0.40761	0.20814788	0.45103	-5.679	0.43506	T	.	.	0.213	0.44161	B	.	.	3.764044	0.54020	23.4	0.99478722548153919	0.66741	0.93621	0.58720	D	AEFBI	0.130246	0.24872	N	0.395398827813312	0.61171	4.314794	0.453194173799013	0.64922	4.758969	0.999988312945074	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	5.69	0.88346	3.545000	0.53401	8.102000	0.76560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.8435:0.1564:0.0:0.0	10.939	0.46474	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	2160.43	122	chr5	79730516	.	A	C	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.23;DP=997;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.35;SOR=0.797	GT:AD:DP:GQ:PL	0/1:114,87:201:99:2172,0,2751	9	0	1	0
chr5	79734800	79734800	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C6035T:p.S2012F	.	430	1062	30	0	0	30	0.0139276	.	.	.	735224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.226	.	0.0022	0.00299521	0.0038	0.0008	0.0011	0	0.0009	0.0028	0.0067	0.0144	0.0034346	531	154602	rs201032060	0.0027	0.0027	0.0022	0.0031	0.0154	0.0026	0.0026	0.0148	0.0145	0.0004	0.0006	0.0171	0	0.0010	0.0080	0.0016	0.0037	0.0154	0.0021	0.0021	0.0019	0.0024	0.0139	0.0019	0.0018	0.0112	0.0102	0.0003	0.0121	0.0005	0.0193	0	0.0018	0.0068	0.0019	0.0014	0.0139	0.001	0.78490	D	0.016	0.60972	D	0.994	0.66517	D	0.862	0.61339	P	0.039534	0.24160	N	0.210202	0.999995	0.08975	N	1.01	0.25309	L	0.7	0.51474	T	-2.87	0.60348	D	0.329	0.36989	-0.9838	0.34116	T	0.134	0.44817	T	10	0.004062146	0.00079	T	.	.	.	0.226	0.52472	.	.	0.510054698054	0.50647	0.21170296660857402	0.21086	0.242559149835	0.26761	0.298259317875	0.10143	T	0.027042	0.19889	T	-0.188899	0.22422	T	-0.0317921	0.68248	D	0.0461429816485544	0.04810	T	0.517048	0.16713	T	0.22967087	0.45709	0.24030852	0.49401	0.22967087	0.45709	0.24030852	0.49400	-5.613	0.42911	T	.	.	0.169	0.37235	B	.	.	1.986486	0.25238	16.69	0.84427426053933818	0.15285	0.13837	0.18079	N	AEFBI	0.090196	0.18279	N	-0.00724785906571376	0.41528	2.485462	-0.0779092449499073	0.36306	2.111129	0.648451535963223	0.22135	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.77	0.60425	1.641000	0.36812	2.104000	0.30620	0.599000	0.40250	0.018000	0.19461	0.027000	0.21108	0.127000	0.19450	0.0:0.9111:0.0:0.0889	11.002	0.46824	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	851.43	82	chr5	79734800	.	C	T	851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=583;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=0.376;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,34:76:99:863,0,1049	9	0	1	0
chr5	80437332	80437332	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_001284237:exon3:c.C647T:p.S216L,ZFYVE16:NM_014733:exon3:c.C647T:p.S216L,ZFYVE16:NM_001105251:exon4:c.C647T:p.S216L,ZFYVE16:NM_001284236:exon4:c.C647T:p.S216L,ZFYVE16:NM_001349434:exon4:c.C647T:p.S216L	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00600571349863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.578	0.06030	T	0.372	0.16376	T	0.002	0.09854	B	0.004	0.10090	B	0.219894	0.16163	N	0.518702	0.99782	0.22489	N	0.55	0.14455	N	1.14	0.38397	T	-0.89	0.24026	N	0.093	0.11769	-0.9933	0.31749	T	0.040	0.17106	T	10	0.044118315	0.03334	T	0.006006	0.15668	T	0.030	0.07022	0.275	0.22687	0.352262096564	0.34836	0.12811700135283888	0.12736	0.0426833663064	0.04603	0.292248100042	0.09250	T	0.004795	0.04206	T	-0.319811	0.06912	T	-0.697163	0.05982	T	0.0301871709525585	0.02018	T	0.746025	0.36642	T	0.043378968	0.06748	0.04774323	0.06944	0.043378968	0.06748	0.04774323	0.06944	-3.981	0.23518	T	.	.	0.073	0.04806	B	.;.;.	.;.;.	1.839313	0.23369	15.99	0.36170304872751802	0.02312	0.22143	0.21646	N	AEFBI	0.041230	0.06241	N	-0.902758784211391	0.10778	0.5167009	-0.794847114495535	0.14622	0.7649157	0.0438572772105586	0.14588	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.24	-0.48	0.11483	-0.065000	0.11575	0.787000	0.21533	0.549000	0.26987	0.336000	0.25640	0.997000	0.33255	0.971000	0.54645	0.0:0.5682:0.0:0.4318	10.014	0.41175	872	0.31118	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1702.43	86	chr5	80437332	.	C	T	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.252;DP=726;ExcessHet=0;FS=0.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.13;SOR=0.605	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	9	0	1	0
chr5	80513649	80513649	G	A	exonic	FAM151B	.	nonsynonymous SNV	FAM151B:NM_205548:exon3:c.G197A:p.G66E	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00543392758171	0.0005	0.000599042	0.0004	0	0.0003	0	0	0.0006	0	0	0.0003816	59	154602	rs139629089	0.0003	0.0003	0.0003	0.0003	0.0017	0.0003	0.0003	0.0009	0.0008	0.0001	0.0011	0.0008	0	0	0.0017	0.0003	0.0006	5.797e-05	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0004	0.0020	0.0018	2.407e-05	0	0.0027	0.0014	0	0	0.0034	0.0003	0.0005	0.0002	0.069	0.35537	T	0.281	0.21612	T	0.039	0.21116	B	0.028	0.21332	B	0.007237	0.31521	N	0.386077	0.911755	0.27491	N	0.775	0.19437	N	2.81	0.10975	T	-2.48	0.54059	N	0.163	0.17140	-1.0216	0.23195	T	0.013	0.05129	T	10	0.0083349645	0.00189	T	0.005434	0.13954	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.4701767454435021	0.46936	0.146686632738	0.16557	0.286569654942	0.08425	T	0.010352	0.09352	T	-0.612015	0.00123	T	-0.744629	0.03699	T	0.0114656052533619	0.00172	T	0.628437	0.24364	T	0.10101609	0.23857	0.11229566	0.27095	0.10101609	0.23857	0.11229566	0.27094	-5.62	0.42975	T	.	.	0.079	0.07318	B	.	.	2.012169	0.25571	16.81	0.82911332837642193	0.14441	0.28403	0.23544	N	AEFBI	0.058793	0.11057	N	-0.833801359502692	0.12453	0.6070645	-0.790363201224241	0.14731	0.7712563	0.00275098546584675	0.09676	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	6.04	1.76	0.23776	0.776000	0.26365	3.709000	0.39550	-0.153000	0.12021	0.010000	0.18352	1.000000	0.68203	0.316000	0.24877	0.2876:0.1487:0.5637:0.0	5.531	0.16271	769	0.49307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1387.43	96	chr5	80513649	.	G	A	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=407;ExcessHet=0;FS=1.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.421;SOR=0.888	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	9	0	1	0
chr5	80559007	80559007	A	G	exonic	ANKRD34B	.	nonsynonymous SNV	ANKRD34B:NM_001004441:exon5:c.T1013C:p.V338A	.	436	1061	25	0	0	25	0.0116442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0028	0.00439297	0.0042	0.0010	0.0022	0	0.0003	0.0029	0.0044	0.0164	0.0039003	603	154602	rs148564433	0.0038	0.0038	0.0033	0.0042	0.0156	0.0037	0.0037	0.0149	0.0147	0.0005	0.0021	0.0001	7.557e-05	0.0006	0.0088	0.0034	0.0026	0.0156	0.0027	0.0027	0.0026	0.0028	0.0137	0.0025	0.0024	0.0110	0.0101	0.0010	0	0.0039	0	0	0.0002	0	0.0034	0.0038	0.0137	0.38	0.11191	T	0.469	0.12281	T	0.0	0.02946	B	0.001	0.04355	B	0.810656	0.06825	N	1.135360	1	0.08975	N	-0.345	0.03330	N	2.39	0.15724	T	-0.17	0.09627	N	0.021	0.00339	-0.9551	0.40078	T	0.013	0.05129	T	10	0.0030637383	0.00051	T	.	.	.	0.022	0.04323	.	.	0.0666544352282	0.05500	0.36264810162296324	0.36178	0.129338878314	0.14584	0.250252187252	0.03794	T	0.00534	0.04790	T	-0.674948	0.00051	T	-0.728667	0.04388	T	0.00538134100217449	0.00058	T	0.29847	0.05558	T	0.05018048	0.09025	0.044652242	0.05834	0.05018048	0.09025	0.044652242	0.05834	-3.707	0.19422	T	.	.	0.097	0.15921	B	.	.	0.980013	0.13573	10.10	0.88781875991788861	0.18251	0.78876	0.38984	D	AEFBI	0.148571	0.27249	N	-0.792774858898037	0.13498	0.6653429	-0.637421739839242	0.18534	0.9905531	0.00174956441571191	0.08839	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	6.17	2.32	0.27895	1.824000	0.38710	2.686000	0.34052	0.756000	0.94297	0.311000	0.25423	0.940000	0.28757	0.905000	0.44082	0.7149:0.1345:0.1506:0.0	6.188	0.19722	677	0.60274	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1266.43	33	chr5	80559007	.	A	G	1266.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.236;DP=397;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.282;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	9	0	1	0
chr5	83537607	83537607	A	G	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.A1643G:p.E548G,VCAN:NM_004385:exon8:c.A4604G:p.E1535G	Wagner syndrome 1, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	.	177232	Vitreoretinopathy|Wagner_syndrome|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0247979338115	0.0042	0.00179712	0.0030	0.0013	0.0018	0	0.0003	0.0049	0	6.066e-05	0.0032276	499	154602	rs61749614	0.0040	0.0040	0.0042	0.0038	0.0075	0.0039	0.0039	0.0057	0.0051	0.0008	0.0028	0.0012	0	0.0002	0.0075	0.0049	0.0034	0.0002	0.0031	0.0031	0.0035	0.0026	0.0048	0.0028	0.0028	0.0044	0.0042	0.0007	0.0362	0.0035	0.0032	0	9.409e-05	0.0034	0.0048	0.0028	0.0004	0.265	0.16574	T	0.464	0.30143	T	0.012	0.18474	B	0.006	0.14300	B	0.218571	0.16193	N	0.607030	1	0.08975	N	1.1	0.28011	L	-2.03	0.85875	D	-0.62	0.30346	N	0.081	0.05670	-0.5597	0.66415	T	0.361	0.72284	T	10	0.0035433173	0.00064	T	0.024798	0.47786	T	0.194	0.47447	.	.	0.481105547595	0.47743	0.11758784742564143	0.11686	0.0929780445651	0.10498	0.216410592198	0.01113	T	0.259217	0.63046	T	-0.418746	0.01742	T	-0.373047	0.36533	T	0.00572035828354206	0.00062	T	0.481052	0.14533	T	0.031725273	0.03065	0.036532987	0.03119	0.03698518	0.04656	0.040762812	0.04479	-3.837	0.21358	T	.	.	0.084	0.09723	B	.;.;.	.;.;.	0.840369	0.12120	8.672	0.97295300033545329	0.33252	0.23503	0.22097	N	AEFBI	0.199206	0.32602	N	-0.766509529704649	0.14189	0.7048004	-0.814531610791616	0.14144	0.7375102	0.999657293367375	0.41424	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.59522	0.37078	0	.	.	5.78	0.679	0.17141	2.100000	0.41402	2.623000	0.33646	0.756000	0.94297	0.004000	0.16614	0.004000	0.18990	0.002000	0.04165	0.7419:0.0:0.2581:0.0	9.877	0.40380	910	0.22284	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.009511	0.014620	0.000000	0.000000	0.003049	0.000000	0.05	1517.43	33	chr5	83537607	.	A	G	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=746;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.219;SOR=0.779	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	9	0	1	0
chr5	83539905	83539905	T	G	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164097:exon7:c.T3941G:p.F1314C,VCAN:NM_004385:exon8:c.T6902G:p.F2301C	Wagner syndrome 1, Autosomal dominant	2	612	644	253	11	1161	0.484414	.	.	.	195961	Wagner_syndrome|not_provided|Vitreoretinopathy	Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.058	0.0108346477128	.	0.00179712	0.0021	0.0003	0.0020	0	0.0014	0.0026	0.0033	0.0026	0.0021086	326	154602	rs160278	0.0030	0.0030	0.0029	0.0030	0.0040	0.0029	0.0029	0.0033	0.0032	0.0005	0.0025	0.0001	0	0.0013	0.0040	0.0034	0.0025	0.0026	0.0019	0.0019	0.0021	0.0018	0.0030	0.0017	0.0017	0.0026	0.0025	0.0004	0	0.0027	0	0	0.0012	0	0.0030	0.0038	0.0019	0.029	0.54683	D	0.176	0.29843	T	0.291	0.35204	B	0.078	0.34892	B	0.701319	0.06204	N	1.149720	1	0.08975	P	0	0.06538	N	2.32	0.16640	T	-1.11	0.33598	N	0.166	0.17553	-0.9994	0.30087	T	0.032	0.13548	T	9	0.0036144853	0.00066	T	0.010835	0.27810	T	0.058	0.16647	.	.	0.0675242888579	0.06100	0.10170312442462896	0.10101	0.115592916537	0.13044	0.219845503569	0.01301	T	0.200992	0.55874	T	-0.600371	0.00145	T	-0.639159	0.09731	T	0.00866660003978706	0.00106	T	0.266673	0.04389	T	0.0574799	0.11443	0.039536245	0.04069	0.041540567	0.06135	0.054416746	0.09354	-7.822	0.59851	D	.	.	0.116	0.23325	B	.;.	.;.	0.264295	0.06425	2.895	0.4997288410233327	0.04303	0.19142	0.20544	N	AEFGBI	0.195332	0.32238	N	-1.03105710688041	0.07964	0.3718024	-1.02007583571907	0.09344	0.4643434	0.99997746167723	0.50053	0.732398	0.92422	0	0.624146	0.53433	0	0.743671	0.96076	0	0.59522	0.37078	0	.	.	6.07	3.61	0.40494	0.451000	0.21492	0.131000	0.15046	-2.029000	0.00430	0.009000	0.18154	0.000000	0.08366	0.011000	0.09372	0.4935:0.1278:0.0:0.3787	6.622	0.22004	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	19828.4	33	chr5	83539905	.	T	G	19828.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.45;DP=1293;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.896;SOR=0.693	GT:AD:DP:GQ:PL	0/0:87,0:165:99:1853,2114,4522	9	0	1	0
chr5	90622609	90622609	G	A	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon5:c.G466A:p.A156T	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1520	2	0	0	2	0.000657462	.	.	.	229319	not_specified|not_provided|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.037	0.0181904717333	0.0002	0.000399361	0.0005	0.0003	0.0008	0	0	0.0002	0	0.0017	0.0002264	35	154602	rs201180985	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0013	0.0012	0	0	0	0	0	0.0008	0.0001	0.0002	0.0016	0.0001	0.0001	6.428e-05	0.0002	0.0025	8.17e-05	6.726e-05	0.0014	0.0011	0	0	0	0	0	0	0	0.0001	0	0.0025	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.530732	0.11641	N	0.816543	0.999111	0.21609	N	.	.	.	1.04	0.40218	T	1.38	0.01136	N	0.055	0.02658	-0.9342	0.43515	T	0.024	0.10194	T	10	0.011057407	0.00243	T	0.01819	0.40170	T	0.037	0.09474	.	.	0.0716867268079	0.06686	0.17335955925859284	0.17255	0.0467174585816	0.05080	0.291355937719	0.09119	T	0.044397	0.26802	T	-0.636638	0.00087	T	-0.732814	0.04201	T	0.00605642890747815	0.00067	T	0.343566	0.07491	T	0.029734943	0.02516	0.050000682	0.07757	0.032493286	0.03284	0.045777597	0.06235	-2.271	0.04399	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	0.395212	0.07666	4.337	0.15143179301752169	0.00360	0.11202	0.16476	N	AEFBI	0.036888	0.04985	N	-1.33280703634218	0.03306	0.1474735	-1.18544277025507	0.06152	0.2952454	0.110734227816061	0.16640	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	5.74	-1.11	0.09336	0.455000	0.21555	0.426000	0.18273	-0.549000	0.04906	0.933000	0.32380	0.001000	0.17328	0.189000	0.21571	0.4954:0.0:0.2648:0.2399	3.855	0.08479	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	787.43	40	chr5	90622609	.	G	A	787.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.619;DP=390;ExcessHet=0;FS=8.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.26;SOR=0.403	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	9	0	1	0
chr5	90694338	90694338	C	T	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon33:c.C7582T:p.P2528S	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1483	38	1	0	40	0.0133067	.	.	.	55542	Meniere_disease|Usher_syndrome_type_2C|not_provided|not_specified	MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	.	0.0028	0.00399361	0.0043	0.0005	0.0017	0	0.0008	0.0039	0.0011	0.0141	0.0039909	617	154602	rs201733037	0.0037	0.0037	0.0033	0.0040	0.0156	0.0036	0.0036	0.0149	0.0146	0.0003	0.0024	0.0004	2.519e-05	0.0010	0.0104	0.0032	0.0036	0.0156	0.0027	0.0027	0.0025	0.0030	0.0166	0.0025	0.0024	0.0136	0.0126	0.0004	0	0.0021	0	0	0.0011	0	0.0039	0.0033	0.0166	0.111	0.29029	T	0.144	0.33109	T	0.507	0.37264	P	0.184	0.35999	B	0.000000	0.84330	D	0.046699	0.986846	0.40495	D	.	.	.	1.31	0.35405	T	-2.08	0.47514	N	0.2	0.22098	-1.0927	0.05097	T	0.070	0.28445	T	10	0.0103443265	0.00231	T	.	.	.	0.096	0.27654	.	.	0.641703553165	0.63874	0.5525428449244084	0.55180	0.127368391803	0.14354	0.447906136513	0.31658	T	0.096222	0.39781	T	-0.409726	0.01996	T	-0.348996	0.39319	T	0.0122455829645071	0.00197	T	0.916108	0.70062	D	0.14991482	0.34154	0.1691465	0.38927	0.17034227	0.37603	0.17411672	0.39783	-6.526	0.50487	T	.	.	0.194	0.41526	B	.;.;.	.;.;.	2.444560	0.31468	18.75	0.99330543755661027	0.59738	0.89735	0.50392	D	AEFGBI	0.448496	0.50370	N	0.190834199367653	0.50758	3.26293	0.349605618999404	0.58483	4.019118	0.993710333582082	0.33326	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	2.796000	0.47562	4.405000	0.43261	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1424:0.8576:0.0:0.0	15.0	0.71121	605	0.67457	.;.;Na-Ca exchanger/integrin-beta4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.008152	0.005848	0.000000	0.008621	0.006098	0.022727	0.05	1968.43	81	chr5	90694338	.	C	T	1968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.373;DP=636;ExcessHet=0;FS=7.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=1.22;SOR=1.203	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1121	9	0	1	0
chr5	90720066	90720066	A	G	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon44:c.A9466G:p.I3156V	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1519	3	0	0	3	0.000986518	.	.	.	55570	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0652648251678	.	0.000599042	0.0004	0	0.0003	0	0	8.993e-05	0	0.0021	0.0003105	48	154602	rs372484022	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0019	0.0018	0	0.0002	0	2.521e-05	0	0.0014	2.069e-05	8.283e-05	0.0021	0.0001	0.0001	0.0002	0.0001	0.0023	9.734e-05	8.25e-05	0.0013	0.0010	2.404e-05	0	0.0005	0	0	0	0	2.94e-05	0.0005	0.0023	0.536	0.06891	T	0.26	0.23029	T	0.274	0.31856	B	0.056	0.26147	B	0.000091	0.51296	N	0.231325	0.936413	0.37155	D	.	.	.	1.63	0.28002	T	-0.17	0.09627	N	0.244	0.27554	-1.0865	0.06138	T	0.051	0.21689	T	10	0.0058565736	0.00131	T	0.065265	0.69526	D	0.035	0.08770	0.327	0.31034	0.238705975628	0.23479	0.22840618481394767	0.22755	0.124164387762	0.13980	0.30004876852	0.10408	T	0.046484	0.27437	T	-0.623443	0.00105	T	-0.675573	0.07256	T	0.0353833192621927	0.02873	T	0.59644	0.22167	T	0.034888167	0.04001	0.046645217	0.06548	0.03459016	0.03909	0.033438392	0.02239	-4.064	0.24757	T	.	.	0.074	0.05188	B	.;.	.;.	0.852493	0.12249	8.790	0.91320093928617307	0.20581	0.19504	0.20686	N	AEFBI	0.141647	0.26388	N	-0.556718231796892	0.20274	1.067548	-0.48020973165842	0.22699	1.234227	2.12360943132869E-4	0.05997	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	1.86	0.24489	0.088000	0.14821	-0.811000	0.07334	-0.041000	0.17446	0.032000	0.20554	0.000000	0.08366	0.993000	0.69303	0.8019:0.0:0.1981:0.0	9.695	0.39315	606	0.67383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	745.43	40	chr5	90720066	.	A	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=434;ExcessHet=0;FS=1.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.61;ReadPosRankSum=0.608;SOR=0.615	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1335	9	0	1	0
chr5	90776525	90776525	A	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon61:c.A12476C:p.H4159P	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1510	12	0	0	12	0.00395778	.	.	.	55425	Usher_syndrome_type_2C|ADGRV1-related_disorder|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0797468953248	.	0.000199681	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0046	0.0006339	98	154602	rs200805176	0.0004	0.0004	0.0003	0.0006	0.0054	0.0004	0.0004	0.0050	0.0048	2.991e-05	0.0004	0	2.52e-05	0	0.0014	0.0001	0.0002	0.0054	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0016	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0.0031	0.206	0.19927	T	0.026	0.55759	D	0.75	0.43260	P	0.129	0.32841	B	0.003992	0.34245	N	0.345671	0.999978	0.18612	N	.	.	.	1.7	0.26885	T	-3.14	0.64019	D	0.748	0.74735	-1.0956	0.04667	T	0.051	0.21728	T	10	0.0070364773	0.00160	T	0.079747	0.73305	D	0.154	0.40340	.	.	0.531245695338	0.52774	0.8298226513851884	0.82940	0.268375754583	0.29358	0.393307089806	0.24135	T	0.185223	0.53812	T	-0.422538	0.01648	T	-0.378632	0.35882	T	0.0607050603765	0.07279	T	0.750125	0.37153	T	0.27674827	0.50735	0.30319402	0.56351	0.34527615	0.56697	0.31515864	0.57503	-7.66	0.58729	D	.	.	0.262	0.51738	B	.;.;.	.;.;.	1.798782	0.22867	15.79	0.31134737426357267	0.01739	0.86384	0.45653	D	AEFBI	0.735667	0.68141	D	-0.117023731123837	0.36651	2.121414	-0.136588157486423	0.33928	1.94607	0.155259806287711	0.17506	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	4.189000	0.58156	4.412000	0.43285	-0.055000	0.16736	0.925000	0.32113	0.950000	0.28999	0.022000	0.11911	1.0:0.0:0.0:0.0	14.712	0.68856	654	0.62520	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.1	4076.14	34	chr5	90776525	.	A	C	4076.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.485;DP=625;ExcessHet=0.2348;FS=4.215;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=2.29;SOR=0.718	GT:AD:DP:GQ:PL	0/1:78,80:158:99:1780,0,1887	8	0	2	0
chr5	90840983	90840983	A	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon78:c.A17017C:p.K5673Q	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	3	1509	4	0	6	10	0.00132363	0.0004	0.002	.	894976	not_provided|Inborn_genetic_diseases|Usher_syndrome_type_2C	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.015422311848	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001229	19	154602	rs41303350	0.0001	0.0001	0.0001	0.0001	0.0029	0.0001	0.0001	0.0017	0.0014	3.584e-05	0.0001	0	0	9.353e-05	0.0029	0.0001	0.0003	0.0001	0.0001	0.0001	0.0002	0.0001	0.0002	9.141e-05	7.698e-05	0.0001	8.876e-05	0	0	6.535e-05	0	0	0	0.0034	0.0002	0.0024	0.0002	0.152	0.24468	T	0.068	0.44106	T	0.155	0.28155	B	0.033	0.22329	B	0.000000	0.84330	N	0.043616	0.856494	0.58761	D	.	.	.	1.43	0.32958	T	-1.71	0.40660	N	0.32	0.36043	-1.1041	0.03630	T	0.070	0.28675	T	9	0.100913286	0.18406	T	0.015422	0.36141	T	0.055	0.15663	.	.	0.452450644169	0.44866	0.5460965961500649	0.54535	0.049866187842	0.05475	0.384599924088	0.22907	T	0.194719	0.55058	T	-0.398577	0.02366	T	-0.511368	0.21174	T	0.0883883922958664	0.11025	T	0.782522	0.41827	T	0.27126333	0.50197	0.11159299	0.26921	0.27126333	0.50197	0.11159299	0.26920	-4.397	0.29517	T	.	.	0.123	0.37426	B	.;.;.	.;.;.	1.624404	0.20745	14.89	0.88733831276370578	0.18212	0.96178	0.67892	D	AEFI	0.435242	0.49596	N	-0.187858674214934	0.33639	1.910748	-0.100022422563016	0.35390	2.046906	0.0104997150042087	0.12034	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.8	4.64	0.57399	4.002000	0.56766	6.020000	0.52779	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.509000	0.29221	0.8522:0.1478:0.0:0.0	12.834	0.57150	711	0.56613	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1069.43	36	chr5	90840983	.	A	C	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=394;ExcessHet=0;FS=2.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.772;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	9	0	1	0
chr5	94396148	94396148	G	T	exonic	KIAA0825	.	nonsynonymous SNV	KIAA0825:NM_001145678:exon17:c.C3249A:p.N1083K,KIAA0825:NM_001385713:exon17:c.C3264A:p.N1088K,KIAA0825:NM_001385712:exon18:c.C3264A:p.N1088K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00750776835958	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388286698	5.806e-06	6.156e-06	5.718e-06	5.898e-06	9.375e-05	2.5e-06	1.81e-06	4.386e-05	3.096e-05	0	0	0	0	0	0	0	1.752e-05	9.375e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.307	0.14159	T	0.449	0.12993	T	0.005	0.12996	B	0.011	0.15521	B	.	.	.	.	0.69012	0.30199	N	1.04	0.26193	L	1.07	0.39586	T	-1.58	0.38151	N	0.129	0.12341	-1.0882	0.05839	T	0.078	0.31133	T	9	0.08322662	0.13822	T	0.007508	0.19926	T	0.026	0.05648	0.293	0.25560	0.268211541103	0.26431	.	.	.	.	0.345219731331	0.17215	T	0.013266	0.11507	T	-0.303469	0.08336	T	-0.673688	0.07374	T	0.051816272457496	0.05815	T	0.647735	0.25884	T	0.08655518	0.20123	0.11449054	0.27637	0.08655518	0.20122	0.11449054	0.27636	-3.364	0.14576	T	.	.	0.134	0.29060	B	.	.	1.945990	0.24719	16.50	0.98996959385429983	0.50065	0.68805	0.33942	D	AEFDI	0.119986	0.23395	N	-0.382280378458598	0.26100	1.421893	-0.248061197772163	0.29838	1.674997	0.0365021212711893	0.14248	0.553676	0.25195	0	0.588015	0.36545	0	0.491513	0.07944	0	0.620846	0.47308	0	.	.	5.58	2.7	0.31007	0.408000	0.20787	.	.	0.671000	0.69459	0.999000	0.42656	1.000000	0.68203	0.925000	0.46118	0.0682:0.0:0.4165:0.5153	8.756	0.33807	885	0.28214	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1734.43	34	chr5	94396148	.	G	T	1734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.915;DP=453;ExcessHet=0;FS=2.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.402;SOR=0.488	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	9	0	1	0
chr5	95414053	95414053	C	T	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon4:c.C400T:p.R134C	.	434	1074	14	0	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0068	0.00439297	0.0050	0.0014	0.0031	0	0.0017	0.0068	0.0078	0.0050	0.0049741	769	154602	rs76962324	0.0067	0.0067	0.0066	0.0067	0.0173	0.0065	0.0065	0.0146	0.0136	0.0016	0.0040	0.0050	5.038e-05	0.0021	0.0173	0.0074	0.0068	0.0055	0.0049	0.0049	0.0049	0.0048	0.0078	0.0046	0.0045	0.0072	0.0070	0.0015	0	0.0046	0.0035	0	0.0021	0.0238	0.0078	0.0080	0.0041	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000039	0.55875	D	0.085547	0.997046	0.43591	D	.	.	.	1.94	0.22678	T	-5.39	0.85027	D	0.658	0.66787	-0.9516	0.40695	T	0.106	0.38587	T	10	0.010783225	0.00239	T	.	.	.	0.253	0.56294	.	.	0.307648195649	0.30373	0.47366088601789136	0.47285	0.530407751899	0.50578	0.376723438501	0.21792	T	.	.	.	-0.339863	0.05397	T	-0.257101	0.49114	T	0.0388660275550963	0.03486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.33016	B	.	.	5.268109	0.88451	29.6	0.99939570940083844	0.99734	0.80067	0.39806	D	AEFGBI	0.459933	0.51033	N	0.717791549098515	0.80798	7.374928	0.684031709257305	0.81166	7.463709	0.938823137378373	0.27360	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.53	5.53	0.82530	1.640000	0.36801	4.887000	0.45725	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.1589:0.8411:0.0:0.0	13.251	0.59479	646	0.63441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016616	0.005051	0.016304	0.032164	0.000000	0.025862	0.015244	0.011364	0.05	2172.43	121	chr5	95414053	.	C	T	2172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=918;ExcessHet=0;FS=1.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=1.92;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	9	0	1	0
chr5	95428662	95428662	G	A	exonic	FAM81B	.	nonsynonymous SNV	FAM81B:NM_152548:exon6:c.G716A:p.R239Q	.	436	1075	11	0	0	11	0.00509024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00260826757858	0.0066	0.00379393	0.0050	0.0016	0.0038	0	0.0048	0.0061	0.0078	0.0059	0.0052845	817	154602	rs1541797	0.0068	0.0068	0.0068	0.0068	0.0077	0.0067	0.0066	0.0076	0.0075	0.0015	0.0044	0.0005	5.039e-05	0.0058	0.0029	0.0077	0.0053	0.0053	0.0047	0.0047	0.0051	0.0043	0.0073	0.0044	0.0043	0.0068	0.0066	0.0010	0	0.0063	0.0006	0.0002	0.0043	0	0.0073	0.0062	0.0046	0.875	0.02575	T	1.0	0.01155	T	.	.	.	.	.	.	0.042302	0.23855	N	0.456201	1	0.08975	N	.	.	.	2.41	0.15492	T	0.85	0.01736	N	0.113	0.10056	-0.9554	0.40024	T	0.011	0.03903	T	10	0.0054428577	0.00120	T	0.002608	0.05292	T	0.061	0.17616	.	.	0.199424873507	0.19547	0.030983326499687	0.03047	0.115101169572	0.12988	0.21596057713	0.01089	T	.	.	.	-0.706535	0.00033	T	-0.782397	0.02382	T	0.000934506258472898	0.00009	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05188	B	.	.	0.566161	0.09345	6.128	0.32580228653386939	0.01895	0.02021	0.06069	N	AEFBI	0.044141	0.07066	N	-1.08749245223768	0.06873	0.3176371	-1.06533507115238	0.08391	0.4123364	9.62435615225125E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.87	0.132	0.14061	0.289000	0.18713	-0.116000	0.11774	-0.105000	0.15698	0.005000	0.17040	0.002000	0.18203	0.149000	0.20271	0.478:0.1226:0.3994:0.0	6.737	0.22604	641	0.64016	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.011364	0.05	1472.43	33	chr5	95428662	.	G	A	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.243;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1144	9	0	1	0
chr5	96412379	96412379	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G821A:p.G274E,PCSK1:NM_001177875:exon7:c.G680A:p.G227E	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.397258178762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	-1.51	0.81399	D	-7.85	0.96058	D	0.951	0.99337	0.741	0.93688	D	0.769	0.92136	D	10	0.9849795	0.98724	D	0.397258	0.93319	D	0.931	0.98378	0.922	0.98638	0.938916910738	0.93828	0.9163316288740364	0.91608	1.06453759518	0.76590	0.914874970913	0.97909	D	0.847666	0.96503	D	0.441475	0.92094	D	0.396372	0.91996	D	0.999790370464325	0.99036	D	0.989301	0.96450	D	0.9669098	0.97966	0.97170174	0.99537	0.9669098	0.97966	0.97170174	0.99537	-14.741	0.95521	D	.	.	1.000	0.99585	P	.;.	.;.	5.269897	0.88488	29.6	0.99815560568110473	0.89885	0.97918	0.78116	D	AEFDBI	0.957879	0.97732	D	0.983981381821718	0.95231	13.42687	0.919329788502389	0.96361	14.60398	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	35.47	66	chr5	96412379	.	C	T	35.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.514;DP=697;ExcessHet=0;FS=74.636;InbreedingCoeff=-0.056;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=0.891;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:12:.:.:0,12,1999:.	9	0	1	0
chr5	96412380	96412380	C	T	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.G820A:p.G274R,PCSK1:NM_001177875:exon7:c.G679A:p.G227R	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40395133694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.9	0.96120	H	-1.51	0.81399	D	-7.85	0.96058	D	0.949	0.99100	0.823	0.94700	D	0.790	0.92896	D	10	0.98368526	0.98520	D	0.403951	0.93457	D	0.929	0.98304	0.914	0.98346	0.94146576268	0.94086	0.9268507850302136	0.92663	1.02087520744	0.75113	0.918705880642	0.98223	D	0.835304	0.96107	D	0.442034	0.92117	D	0.397175	0.92020	D	0.999790370464325	0.99036	D	0.992876	0.97681	D	0.9671122	0.97986	0.944418	0.98053	0.9671122	0.97986	0.944418	0.98053	-14.313	0.94520	D	.	.	0.999	0.98504	P	.;.	.;.	5.439492	0.90915	32	0.99946147601129243	0.99901	0.97918	0.78116	D	AEFDBI	0.956575	0.97521	D	1.02105448582345	0.96356	14.596	0.943111103787272	0.97191	15.730	0.999999999997265	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	7.568000	0.81546	7.721000	0.67307	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.15	0.93468	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	36.81	81	chr5	96412380	.	C	T	36.81	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.517;DP=859;ExcessHet=0;FS=74.636;InbreedingCoeff=-0.1168;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=0.94;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:77,0:77:11:.:.:0,11,1622:.	7	0	1	2
chr5	96412463	96412463	G	A	exonic	PCSK1	.	nonsynonymous SNV	PCSK1:NM_000439:exon7:c.C737T:p.T246M,PCSK1:NM_001177875:exon7:c.C596T:p.T199M	Obesity with impaired prohormone processing, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.329593620561	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1044737470	1.163e-05	1.163e-05	1.634e-05	6.876e-06	2.236e-05	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	2.236e-05	0	0	0	0	1.259e-05	1.656e-05	1.159e-05	6.576e-06	6.569e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.002	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	-2.6	0.89888	D	-5.04	0.82638	D	0.873	0.87049	0.921	0.95969	D	0.861	0.95359	D	10	0.9207115	0.91425	D	0.329594	0.91712	D	0.888	0.96762	0.719	0.85408	0.987946132135	0.98781	0.886734109114461	0.88642	0.947771204671	0.72482	0.869953989983	0.92561	D	0.79896	0.94852	D	0.460327	0.92942	D	0.423452	0.92853	D	0.997527301311493	0.91766	D	0.963604	0.86445	D	0.7839992	0.82901	0.7271818	0.83883	0.7839992	0.82902	0.7271818	0.83884	-9.487	0.71276	D	.	.	0.907	0.83519	P	.;.	.;.	5.707521	0.93153	33	0.99909862549635331	0.97949	0.99745	0.99149	D	AEFDBI	0.952236	0.96752	D	0.992096752653334	0.95496	13.67588	0.933754473965918	0.96882	15.27609	0.999999999999848	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.47	5.47	0.80345	9.602000	0.97623	11.909000	0.99543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.930	0.92535	791	0.46100	Peptidase S8/S53 domain|Kexin/furin catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1374.43	37	chr5	96412463	.	G	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.365;DP=516;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.687;SOR=0.629	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr5	96695837	96695837	A	G	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042440:exon3:c.A140G:p.K47R,CAST:NM_001042441:exon3:c.A140G:p.K47R,CAST:NM_001042442:exon3:c.A140G:p.K47R,CAST:NM_001330626:exon3:c.A140G:p.K47R,CAST:NM_001330627:exon3:c.A140G:p.K47R,CAST:NM_001330628:exon3:c.A95G:p.K32R,CAST:NM_001330629:exon3:c.A95G:p.K32R,CAST:NM_001375317:exon3:c.A95G:p.K32R,CAST:NM_001750:exon3:c.A140G:p.K47R	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	.	.	.	.	.	.	.	0.8976	0.568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0492922686789	.	.	9.103e-06	0	0	0	0	0	0	6.889e-05	6.5e-06	1	154602	rs751186352	2.743e-06	2.736e-06	0	5.513e-06	3.489e-05	6.4e-07	4.3e-07	9.27e-06	4.57e-06	0	0	0	2.523e-05	0	0	0	0	3.489e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	.	.	.	0.71	0.51228	T	-1.18	0.30140	N	0.283	0.34981	-0.8109	0.54496	T	0.253	0.62326	T	9	0.1811924	0.33339	T	0.049292	0.63750	D	0.100	0.28662	0.135	0.03920	0.571380689955	0.56804	0.042769073550626854	0.04221	0.100344466866	0.11344	0.385840952396	0.23081	T	0.021744	0.18650	T	-0.218697	0.18170	T	-0.370391	0.36844	T	0.62507188477478	0.37414	D	0.906909	0.67118	D	.	.	.	.	.	.	.	.	-5.276	0.41633	T	.	.	0.120	0.27642	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.674656	0.74743	26.2	0.99800154798183482	0.88461	0.90264	0.51303	D	AEBI	0.527914	0.54966	D	0.487879253092199	0.66380	4.942745	0.489212076552615	0.67273	5.062049	0.999999700405032	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.03	5.03	0.67015	3.851000	0.55634	7.495000	0.59416	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	11.350	0.48820	890	0.26919	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	453.43	33	chr5	96695837	.	A	G	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.559;DP=347;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.01;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,970	9	0	1	0
chr5	96737924	96737924	A	G	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001284213:exon6:c.A310G:p.T104A,CAST:NM_001042444:exon7:c.A403G:p.T135A,CAST:NM_001042446:exon7:c.A403G:p.T135A,CAST:NM_001284212:exon7:c.A403G:p.T135A,CAST:NM_001330630:exon7:c.A403G:p.T135A,CAST:NM_001042445:exon8:c.A460G:p.T154A,CAST:NM_001330632:exon8:c.A460G:p.T154A,CAST:NM_001330633:exon8:c.A469G:p.T157A,CAST:NM_001330634:exon8:c.A469G:p.T157A,CAST:NM_173060:exon8:c.A460G:p.T154A,CAST:NM_001042440:exon9:c.A652G:p.T218A,CAST:NM_001042443:exon9:c.A526G:p.T176A,CAST:NM_001330627:exon9:c.A652G:p.T218A,CAST:NM_001330628:exon9:c.A607G:p.T203A,CAST:NM_001330631:exon9:c.A526G:p.T176A,CAST:NM_001042441:exon10:c.A718G:p.T240A,CAST:NM_001042442:exon10:c.A709G:p.T237A,CAST:NM_001330626:exon10:c.A718G:p.T240A,CAST:NM_001375317:exon10:c.A664G:p.T222A,CAST:NM_001190442:exon11:c.A526G:p.T176A,CAST:NM_001330629:exon11:c.A730G:p.T244A,CAST:NM_001750:exon11:c.A775G:p.T259A	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	417	1101	4	0	0	4	0.00181324	.	.	.	1537755	CAST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.026	.	.	0.00658946	0.0040	0	0.0031	0	0	7.505e-05	0.0022	0.0266	0.0034928	540	154602	rs542940545	0.0017	0.0017	0.0010	0.0024	0.0252	0.0016	0.0016	0.0243	0.0239	3.016e-05	0.0016	0.0008	7.573e-05	0	0.0009	2.459e-05	0.0022	0.0252	0.0011	0.0011	0.0005	0.0016	0.0319	0.0009	0.0009	0.0278	0.0262	2.405e-05	0	0.0003	0.0003	0	0	0	1.47e-05	0	0.0319	0.579	0.09346	T	0.861	0.08448	T	0.004	0.36182	B	0.009	0.36707	B	0.199788	0.03311	N	1.563230	1	0.08975	N	0.355	0.11969	N	2.34	0.16351	T	-1.49	0.36385	N	0.085	0.09914	-1.0615	0.11385	T	0.023	0.09923	T	10	0.0031082034	0.00052	T	.	.	.	0.026	0.05648	0.294	0.25720	0.141422826196	0.13715	0.08042089954986069	0.07977	0.0311329674727	0.03224	0.247636184096	0.03522	T	0.028679	0.31314	T	-0.658912	0.00064	T	-0.698308	0.05918	T	0.0204925058802202	0.00749	T	0.725427	0.35027	T	0.015044664	0.00119	0.020602386	0.00145	0.019591624	0.00492	0.021626402	0.00208	-3.456	0.16417	T	.	.	0.064	0.02578	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.825232	0.00149	0.002	0.8066098994559765	0.13309	0.00994	0.03770	N	AEFBI	0.102398	0.20542	N	-1.6653848409885	0.00972	0.0421181	-1.81221146706204	0.00721	0.03212257	0.999999999935394	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	-10.8	0.00171	-2.969000	0.00733	-4.102000	0.02341	-0.679000	0.04243	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.1757:0.4312:0.3931:0.0	11.116	0.47481	897	0.25382	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	342.43	38	chr5	96737924	.	A	G	342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.533;DP=348;ExcessHet=0;FS=4.846;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.121;SOR=1.256	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	9	0	1	0
chr5	96741272	96741272	A	C	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042446:exon9:c.A514C:p.I172L,CAST:NM_001284213:exon9:c.A460C:p.I154L,CAST:NM_001330630:exon9:c.A514C:p.I172L,CAST:NM_001042444:exon10:c.A553C:p.I185L,CAST:NM_001042445:exon10:c.A571C:p.I191L,CAST:NM_001284212:exon10:c.A553C:p.I185L,CAST:NM_001330634:exon10:c.A580C:p.I194L,CAST:NM_001330631:exon11:c.A637C:p.I213L,CAST:NM_001330632:exon11:c.A610C:p.I204L,CAST:NM_001330633:exon11:c.A619C:p.I207L,CAST:NM_173060:exon11:c.A610C:p.I204L,CAST:NM_001042440:exon12:c.A802C:p.I268L,CAST:NM_001042443:exon12:c.A676C:p.I226L,CAST:NM_001330626:exon12:c.A829C:p.I277L,CAST:NM_001330627:exon12:c.A802C:p.I268L,CAST:NM_001330628:exon12:c.A757C:p.I253L,CAST:NM_001042441:exon13:c.A868C:p.I290L,CAST:NM_001042442:exon13:c.A859C:p.I287L,CAST:NM_001190442:exon13:c.A637C:p.I213L,CAST:NM_001330629:exon13:c.A841C:p.I281L,CAST:NM_001375317:exon13:c.A814C:p.I272L,CAST:NM_001750:exon14:c.A925C:p.I309L	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	420	1098	4	0	0	4	0.00181818	.	.	.	1591199	CAST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0020	0.0153754	0.0102	0.0061	0.0540	0.0108	0	0.0001	0.0067	0.0271	0.0092302	1427	154602	rs140434940	0.0035	0.0035	0.0031	0.0039	0.0462	0.0034	0.0034	0.0446	0.0439	0.0050	0.0462	0.0008	0.0080	0	0.0014	2.715e-05	0.0045	0.0256	0.0050	0.0051	0.0046	0.0056	0.0325	0.0048	0.0046	0.0284	0.0268	0.0052	0	0.0203	0.0003	0.0127	0	0	7.349e-05	0.0057	0.0325	0.486	0.11882	T	0.602	0.16668	T	0.0	0.02946	B	0.0	0.04355	B	0.004165	0.34034	N	0.392960	0.999998	0.08975	N	-0.895	0.01383	N	2.36	0.39223	T	0.37	0.03955	N	0.231	0.30004	-1.0195	0.23877	T	0.009	0.03227	T	10	0.001888305	0.00026	T	.	.	.	0.081	0.23632	0.141	0.04462	.	.	0.034622143333168175	0.03410	0.0312736387666	0.03243	0.304229348898	0.11035	T	0.002935	0.38927	T	-0.513134	0.00482	T	-0.474087	0.25077	T	0.00489081173144148	0.00053	T	0.0925907	0.22604	T	0.03689018	0.04625	0.023089813	0.00324	0.041657526	0.06174	0.023089813	0.00324	-2.41	0.05195	T	.	.	0.051	0.00397	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	0.943847	0.13196	9.697	0.9026587986165826	0.19535	0.64689	0.32489	D	AEFBI	0.126058	0.24284	N	-0.796009059219867	0.13414	0.6606145	-0.562250489771081	0.20481	1.103649	0.999464524435055	0.39843	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	1.03	0.19161	0.757000	0.26098	0.516000	0.19122	-0.040000	0.17491	0.806000	0.29799	0.002000	0.18203	0.814000	0.38357	0.5326:0.2769:0.0701:0.1204	3.542	0.07370	897	0.25382	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	639.43	52	chr5	96741272	.	A	C	639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.166;DP=358;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.12;SOR=0.32	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	9	0	1	0
chr5	96780494	96780494	C	G	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon18:c.G2599C:p.G867R,ERAP1:NM_001198541:exon18:c.G2599C:p.G867R,ERAP1:NM_001349244:exon18:c.G2599C:p.G867R,ERAP1:NM_016442:exon18:c.G2599C:p.G867R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0714642738333	.	.	8.27e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs746217625	6.848e-07	6.841e-07	1.363e-06	0	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	6.583e-06	6.571e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.295	0.65404	M	3.5	0.05014	T	-6.73	0.92605	D	0.902	0.90251	-1.1812	0.00352	T	0.074	0.29834	T	10	0.8168645	0.80918	D	0.071464	0.71275	D	0.369	0.68844	0.593	0.72247	0.350964488264	0.34705	0.6648121535879067	0.66418	0.451824875	0.44921	0.570059001446	0.48687	T	0.170079	0.51770	T	0.09634	0.63893	D	0.0697375	0.74892	D	0.892723565373001	0.54385	D	0.957004	0.83719	D	0.91695654	0.92953	0.9069426	0.95471	0.91695654	0.92954	0.9069426	0.95471	-10.316	0.75782	D	.	.	0.845	0.79948	P	.;.	.;.	4.841681	0.79050	27.0	0.99913406678728911	0.98238	0.99191	0.92574	D	AEFBI	0.746529	0.68887	D	0.549014015453762	0.70021	5.440907	0.583731913506914	0.73772	6.025754	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.677038	0.66255	0	.	.	6.09	6.09	0.99101	5.577000	0.67141	7.678000	0.65147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.743000	0.35541	0.0:1.0:0.0:0.0	20.29	0.98544	896	0.25515	.;ERAP1-like C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1544.43	75	chr5	96780494	.	C	G	1544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.655;DP=575;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=1.02;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	9	0	1	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	910.05	51	chr5	102270770	.	G	A	910.05	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.065;DP=424;ExcessHet=1.5895;FS=179.287;InbreedingCoeff=-0.291;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=4.92;ReadPosRankSum=1.44;SOR=6.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:23:.:.:0,23,463:.	5	0	4	1
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	287.37	61	chr5	102270771	.	T	C	287.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.907;DP=427;ExcessHet=0.2348;FS=55.455;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=1.64;SOR=6.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:37:.:.:0,37,687:.	7	0	2	1
chr5	103097730	103097730	G	A	exonic	GIN1	.	nonsynonymous SNV	GIN1:NM_001317954:exon4:c.C250T:p.H84Y,GIN1:NM_017676:exon5:c.C691T:p.H231Y	.	434	1066	21	1	0	23	0.0106729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00507646745747	0.0013	0.000798722	0.0012	0.0002	0.0011	0.0003	0	0.0015	0	0.0016	0.0011772	182	154602	rs199822018	0.0014	0.0014	0.0014	0.0014	0.0030	0.0013	0.0013	0.0019	0.0016	0.0004	0.0012	0.0014	5.058e-05	0.0003	0.0030	0.0015	0.0016	0.0013	0.0009	0.0009	0.0011	0.0007	0.0014	0.0008	0.0007	0.0012	0.0011	0.0004	0	0.0008	0.0009	0.0002	9.432e-05	0	0.0014	0.0009	0.0014	1.0	0.00964	T	0.812	0.03921	T	0.0	0.02946	B	0.0	0.01387	B	0.304663	0.14537	N	0.631229	1	0.81001	D	-0.035	0.05024	N	1.01	0.41058	T	0.22	0.04694	N	0.129	0.12341	-1.0706	0.09282	T	0.079	0.31344	T	10	0.010161459	0.00227	T	0.005076	0.12846	T	0.126	0.34673	.	.	0.571693661435	0.56835	0.4147408953700763	0.41390	0.176853875943	0.19898	0.356300324202	0.18846	T	0.01079	0.09704	T	-0.531869	0.00374	T	-0.561397	0.16246	T	0.00412962397080044	0.00044	T	0.644036	0.25562	T	0.049704887	0.08865	0.051513836	0.08304	0.049704887	0.08865	0.051513836	0.08303	-3.382	0.14815	T	.	.	0.072	0.04119	B	.	.	1.229497	0.16240	12.41	0.27303995941872417	0.01349	0.70487	0.34611	D	AEFBI	0.161841	0.28794	N	-0.240568954531298	0.31481	1.765702	-0.0920224336892937	0.35718	2.069852	0.00289378978847287	0.09781	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.66	4.61	0.56724	3.376000	0.52148	2.545000	0.33235	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.146000	0.20164	0.1729:0.0:0.8271:0.0	7.609	0.27288	931	0.16308	Integrase, catalytic core	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.005102	0.008152	0.000000	0.000000	0.017241	0.003049	0.000000	0.05	866.43	59	chr5	103097730	.	G	A	866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.177;DP=456;ExcessHet=0;FS=2.829;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.267;SOR=0.415	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1185	9	0	1	0
chr5	110640969	110640969	A	T	exonic	TMEM232	.	nonsynonymous SNV	TMEM232:NM_001039763:exon4:c.T265A:p.S89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00292549856556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1220763424	8.684e-06	8.209e-06	4.28e-06	1.322e-05	0.0002	4.63e-06	3.66e-06	6.201e-05	4.652e-05	0	0	0	0	0	0.0002	0	3.497e-05	0.0001	6.569e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.584	0.06106	T	0.186	0.30631	T	0.008	0.14655	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-0.72	0.24676	N	0.148	0.15046	-1.0179	0.24398	T	0.065	0.26878	T	7	0.029526472	0.01079	T	0.002925	0.06192	T	0.038	0.09825	0.186	0.09517	0.0138822411134	0.00435	0.02203804810128695	0.02155	.	.	0.252247542143	0.04008	T	0.005684	0.05129	T	-0.321074	0.06810	T	-0.50066	0.22280	T	0.0352388796809914	0.02849	T	0.429357	0.11628	T	0.073508196	0.16430	0.07548655	0.16623	0.073508196	0.16430	0.07548655	0.16623	-4.117	0.25540	T	.	.	0.078	0.07793	B	.;.;.;.	.;.;.;.	0.282579	0.06594	3.085	0.26746208929224174	0.01295	0.04027	0.09462	N	AEFI	0.057605	0.10746	N	-0.885740717179909	0.11181	0.5382066	-0.876815858888737	0.12644	0.6516169	1.15848290477671E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.87	0.014	0.13420	0.902000	0.28088	0.532000	0.19257	0.691000	0.84096	0.027000	0.20232	0.000000	0.08366	0.307000	0.24666	0.6771:0.2033:0.0:0.1196	8.972	0.35072	899	0.25060	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1337.43	34	chr5	110640969	.	A	T	1337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.789;DP=395;ExcessHet=0;FS=4.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.368;SOR=0.39	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	9	0	1	0
chr5	111113092	111113092	C	T	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon16:c.C1735T:p.R579C	Glaucoma 1, open angle, G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.0541301869122	.	.	8.268e-06	0	8.709e-05	0	0	0	0	0	6.5e-06	1	154602	rs747445944	4.51e-06	1.437e-05	4.473e-06	4.547e-06	2.838e-05	1.62e-06	1.07e-06	.	.	0	2.591e-05	0	2.838e-05	0	0	9.643e-07	5.655e-05	0	0	6.886e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.225	0.63025	M	0.2	0.60111	T	-7.97	0.96368	D	0.922	0.96871	-0.1486	0.78950	T	0.447	0.78263	T	10	0.8829582	0.87612	D	0.05413	0.65740	D	0.434	0.73951	0.644	0.78117	0.740046089975	0.73771	0.6900805834115276	0.68948	0.252456946479	0.27810	0.747338056564	0.74054	T	0.471653	0.80426	T	0.323218	0.84700	D	0.226504	0.84500	D	0.962501227855682	0.66388	D	0.991501	0.97315	D	0.8235889	0.85462	0.8661678	0.92602	0.8235889	0.85464	0.8661678	0.92602	-7.647	0.58638	D	0.8917087015879912	0.94614	0.741	0.74994	P	.;.;.	.;.;.	5.786152	0.93548	33	0.99923630649248119	0.98917	0.98630	0.84902	D	AEFBI	0.764528	0.70129	D	0.888217737998189	0.91171	10.75004	0.871953701429315	0.94230	12.60191	1.0	0.98316	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.06	6.06	0.98340	5.840000	0.69113	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	20.640	0.99540	893	0.26510	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	852.43	34	chr5	111113092	.	C	T	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.173;DP=394;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.403;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	9	0	1	0
chr5	111119021	111119021	A	G	exonic	WDR36	.	nonsynonymous SNV	WDR36:NM_139281:exon17:c.A1805G:p.D602G	Glaucoma 1, open angle, G	1	1506	14	1	0	16	0.00528402	.	.	.	16619	not_specified|Glaucoma_1,_open_angle,_G|not_provided	MedGen:CN169374|MedGen:C1835933,OMIM:609887|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.926	0.145943051313	0.0055	0.00139776	0.0042	0.0009	0.0037	0	0.0015	0.0065	0.0055	0.0007	0.0043919	679	154602	rs34595252	0.0066	0.0067	0.0067	0.0066	0.0078	0.0065	0.0065	0.0077	0.0076	0.0013	0.0041	0.0072	5.044e-05	0.0016	0.0064	0.0078	0.0064	0.0007	0.0046	0.0046	0.0049	0.0042	0.0071	0.0043	0.0042	0.0063	0.0061	0.0015	0.0022	0.0071	0.0087	0	0.0007	0.0102	0.0068	0.0085	0.0015	.	.	.	0.014	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	A	3.97	0.96570	H	-1.41	0.80560	T	-6.41	0.91226	D	0.837	0.83269	0.634	0.92336	D	0.702	0.89735	D	9	0.051918864	0.05146	T	0.145943	0.82810	D	0.926	0.98192	.	.	0.951965153022	0.95145	0.7251869714005635	0.72462	0.249442458714	0.27520	0.573815584183	0.49216	T	0.528265	0.83628	D	0.126704	0.67039	D	0.41379	0.92548	D	0.162536933819761	0.18057	T	0.938606	0.76932	D	0.6678618	0.76319	0.8412156	0.90918	0.92143774	0.93389	0.85915357	0.92121	-11.76	0.83662	D	0.7100612210578926	0.79015	0.935	0.85414	P	.;.;.	.;.;.	5.114656	0.85525	28.6	0.99868019287640497	0.94637	0.98820	0.87283	D	AEFBI	0.876605	0.80071	D	0.969284952116705	0.94719	12.98308	0.907067153494353	0.95874	14.05755	0.999999999993032	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.035000	0.89178	11.176000	0.88137	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.635	0.84906	899	0.25060	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006552	0.015152	0.008152	0.017544	0.000000	0.000000	0.000000	0.000000	0.05	869.43	38	chr5	111119021	.	A	G	869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.38;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=-1.588;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	9	0	1	0
chr5	112194584	112194584	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon17:c.C1486T:p.R496W,EPB41L4A:NM_022140:exon17:c.C1486T:p.R496W	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0840353226501	0.0004	0.000599042	0.0001	0.0011	9.121e-05	0	0	4.863e-05	0	6.541e-05	0.0001164	18	154602	rs199768543	7.983e-05	8.758e-05	8.156e-05	7.808e-05	0.0008	6.765e-05	6.292e-05	0.0006	0.0005	0.0008	0.0002	0	0	0	0.0002	4.92e-05	0.0002	0.0001	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0006	0.0005	0.0008	0	0.0003	0	0	0	0	0.0001	0.0005	0.0004	0.0	0.91255	D	0.002	0.79402	D	0.999	0.77913	D	0.828	0.59497	P	0.000017	0.62929	D	0.065388	0.983642	0.40041	D	1.845	0.48678	L	-1.91	0.84701	D	-4.05	0.74504	D	0.5	0.53269	0.616	0.92110	D	0.735	0.90930	D	10	0.22689167	0.39555	T	0.084035	0.74243	D	0.385	0.70194	.	.	0.961667707463	0.96125	0.5451658945568967	0.54442	0.269474927048	0.29467	0.736009657383	0.72386	T	0.123883	0.44855	T	-0.19031	0.22213	T	-0.102492	0.63204	T	0.182369809544887	0.19384	T	0.966903	0.87955	D	0.59874284	0.72624	0.49327394	0.70690	0.59874284	0.72625	0.49327394	0.70691	-7.23	0.55696	T	0.5866109019974963	0.65341	0.175	0.39982	B	.;.	.;.	5.071615	0.84591	28.4	0.99925221525139807	0.99042	0.96591	0.69909	D	AEFBI	0.668602	0.63633	D	0.706726145326864	0.80075	7.214285	0.676757007728198	0.80615	7.338876	0.99999898016427	0.74766	0.651	0.46895	0	0.610034	0.51514	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.08	5.08	0.68373	4.030000	0.56971	7.466000	0.59102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.505	0.75461	379	0.83778	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	3344.43	43	chr5	112194584	.	G	A	3344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=509;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.9;ReadPosRankSum=-2.326;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1111:.	9	0	1	0
chr5	112775733	112775733	A	G	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon4:c.A557G:p.E186G,APC:NM_001354897:exon4:c.A557G:p.E186G,APC:NM_001354900:exon4:c.A350G:p.E117G,APC:NM_001354901:exon4:c.A350G:p.E117G,APC:NM_001354902:exon4:c.A557G:p.E186G,APC:NM_001354905:exon4:c.A350G:p.E117G,APC:NM_000038:exon5:c.A527G:p.E176G,APC:NM_001354895:exon5:c.A527G:p.E176G,APC:NM_001354896:exon5:c.A527G:p.E176G,APC:NM_001354898:exon5:c.A452G:p.E151G,APC:NM_001354899:exon5:c.A527G:p.E176G,APC:NM_001354903:exon5:c.A527G:p.E176G,APC:NM_001354904:exon5:c.A452G:p.E151G,APC:NM_001127510:exon6:c.A527G:p.E176G	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	31	1489	2	0	0	2	0.000671141	.	.	YES	1408280	Familial_adenomatous_polyposis_1	MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.740	0.150943881997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.45039	D	0.237	0.35840	T	0.374	0.34192	B	0.352	0.42883	B	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	1.385	0.34509	L	-3.02	0.92258	D	-3.52	0.68412	D	0.904	0.90476	0.525	0.90892	D	0.729	0.90719	D	10	0.6953932	0.72111	D	0.150944	0.83256	D	0.740	0.90982	0.328	0.31196	0.985861375872	0.98571	0.3421506880022589	0.34128	.	.	0.873024344444	0.92998	D	0.811365	0.95289	D	0.421797	0.91115	D	0.368106	0.91005	D	0.980249404907227	0.73256	D	0.865313	0.71304	D	0.23598197	0.46442	0.32212853	0.58155	0.23598197	0.46442	0.32212853	0.58154	-2.99	0.10073	T	.	.	0.464	0.62874	A	.;.;.;.	.;.;.;.	4.314041	0.65970	24.9	0.99808475275541675	0.89264	0.98159	0.80110	D	AEFGBI	0.718096	0.66940	D	0.288039189423002	0.55541	3.718202	0.3999960479718	0.61564	4.358365	0.99999999999748	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.3	5.3	0.74745	6.799000	0.74947	11.174000	0.88071	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.251	0.73241	678	0.60190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	36	chr5	112775733	.	A	G	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.163;DP=439;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.068;SOR=0.75	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,986	9	0	1	0
chr5	112839514	112839514	T	A	exonic	APC	.	nonsynonymous SNV	APC:NM_001127511:exon14:c.T3866A:p.I1289K,APC:NM_001354897:exon15:c.T3950A:p.I1317K,APC:NM_001354899:exon15:c.T3836A:p.I1279K,APC:NM_001354901:exon15:c.T3743A:p.I1248K,APC:NM_001354902:exon15:c.T3647A:p.I1216K,APC:NM_001354905:exon15:c.T3440A:p.I1147K,APC:NM_000038:exon16:c.T3920A:p.I1307K,APC:NM_001354895:exon16:c.T3920A:p.I1307K,APC:NM_001354898:exon16:c.T3845A:p.I1282K,APC:NM_001354900:exon16:c.T3797A:p.I1266K,APC:NM_001354903:exon16:c.T3617A:p.I1206K,APC:NM_001354904:exon16:c.T3542A:p.I1181K,APC:NM_001127510:exon17:c.T3920A:p.I1307K,APC:NM_001354896:exon17:c.T3974A:p.I1325K,APC:NM_001354906:exon17:c.T3071A:p.I1024K	Adenoma, periampullary, somatic (3);Adenomatous polyposis coli, Autosomal dominant;Brain tumor-polyposis syndrome 2, Autosomal dominant;Colorectal cancer, somatic;Desmoid disease, hereditary, Autosomal dominant;Gardner syndrome, Autosomal dominant;Gastric cancer, somatic;Hepatoblastoma, somatic	1	1508	12	1	0	14	0.00462046	.	.	YES	15861	Familial_colorectal_cancer|Familial_multiple_polyposis_syndrome|Colorectal_cancer|Hereditary_cancer-predisposing_syndrome|not_specified|Familial_adenomatous_polyposis_1|Colorectal_cancer,_susceptibility_to|.|Breast_cancer,_susceptibility_to|Breast_carcinoma|Diffuse_midline_glioma,_H3_K27-altered|not_provided|Carcinoma_of_colon|APC-Associated_Polyposis_Disorders	MONDO:MONDO:0023113,MedGen:CN280943|MONDO:MONDO:0021055,MedGen:C0032580,OMIM:PS175100,Orphanet:733|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0021056,MedGen:C2713442,OMIM:175100|MedGen:C1858438|.|MedGen:C3469522|Human_Phenotype_Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222|MedGen:C5669877|MedGen:C3661900|MONDO:MONDO:0002032,MedGen:C0699790|MedGen:CN239210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|association|risk_factor	.	.	.	.	.	.	.	.	0.233	0.132984092285	0.0011	.	0.0017	0	0.0009	0	0	0.0027	0.0033	0.0009	0.0001811	28	154602	rs1801155	0.0012	0.0012	0.0012	0.0013	0.0220	0.0012	0.0012	0.0189	0.0177	0.0002	0.0006	0.0370	0	0	0.0220	0.0004	0.0033	0.0005	0.0013	0.0013	0.0014	0.0011	0.0008	0.0011	0.0011	0.0005	0.0004	4.816e-05	0	0.0006	0.0354	0	0	0.0136	0.0006	0.0028	0.0008	0.086	0.32610	T	0.694	0.05844	T	0.012	0.16265	B	0.006	0.12133	B	0.106984	0.19590	N	0.581060	0.985209	0.40251	D	1.1	0.28011	L	-2.58	0.89757	D	-0.08	0.08187	N	0.212	0.26957	-0.5369	0.67281	T	0.426	0.76969	T	9	0.007214457	0.00164	T	0.132984	0.81534	D	0.233	0.53499	.	.	0.877573215991	0.87637	0.6444917115310903	0.64384	.	.	0.386195063591	0.23132	T	0.445146	0.78828	T	-0.273232	0.11399	T	-0.205789	0.54097	T	0.0072739377223775	0.00083	T	0.60444	0.22695	T	0.07446869	0.16713	0.09694298	0.23055	0.0767068	0.17363	0.11784467	0.28446	-2.243	0.04254	T	0.0948030854518334	0.06384	0.141	0.30997	B	.;.	.;.	1.181042	0.15714	12.05	0.83511330178036025	0.14766	0.93968	0.59717	D	AEDBCI	0.341022	0.43764	N	-0.294488063035768	0.29361	1.627	-0.105413343103916	0.35171	2.031666	0.0587628207607881	0.15138	0.706548	0.73137	0	0.546412	0.12157	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.73	4.53	0.55009	0.887000	0.27891	2.950000	0.35708	0.665000	0.62972	0.061000	0.21800	1.000000	0.68203	0.876000	0.41813	0.0:0.0723:0.1457:0.782	7.377	0.26007	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020645	0.025253	0.014946	0.055556	0.000000	0.060345	0.003049	0.000000	0.05	1100.43	98	chr5	112839514	.	T	A	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.08;DP=703;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.251;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1197	9	0	1	0
chr5	113143311	113143311	G	A	exonic	MCC	.	nonsynonymous SNV	MCC:NM_002387:exon3:c.C221T:p.T74M,MCC:NM_001085377:exon5:c.C791T:p.T264M	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	2762111	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0282641021458	7.7e-05	.	0.0001	9.615e-05	0	0.0013	0	1.5e-05	0	0	8.41e-05	13	154602	rs377332690	7.048e-05	7.251e-05	7.216e-05	6.877e-05	0.0005	5.915e-05	5.524e-05	0.0004	0.0003	0	0.0002	0	0.0005	1.875e-05	0.0002	4.497e-05	0.0003	4.641e-05	7.231e-05	7.224e-05	7.71e-05	6.729e-05	0.0008	3.973e-05	3.129e-05	0.0003	0.0002	4.83e-05	0	0	0	0.0008	0	0	7.349e-05	0	0	0.066	0.42783	T	0.194	0.39645	T	0.27	0.39935	B	0.007	0.22546	B	0.000005	0.62929	D	0.064542	0.999947	0.51968	D	0.55	0.14455	N	-1.17	0.78199	T	-0.13	0.10308	N	0.376	0.43126	-0.5700	0.66015	T	0.231	0.59732	T	10	0.07611409	0.11850	T	0.028264	0.50969	D	0.067	0.19503	.	.	0.794710338402	0.79280	0.5707770303441715	0.57005	0.107033212808	0.12085	0.745954275131	0.73849	T	0.087272	0.37906	T	-0.316188	0.07214	T	-0.27251	0.47565	T	0.0342713612929779	0.02684	T	0.90321	0.66112	D	0.06135075	0.12694	0.11445275	0.27627	0.06135075	0.12693	0.11445275	0.27626	-3.134	0.12238	T	0.2696907261640585	0.36300	0.096	0.20078	B	.;.;.;.	.;.;.;.	4.440978	0.68956	25.3	0.98290198038002097	0.39945	0.92196	0.55159	D	AEFDBI	0.455352	0.50767	N	0.0721620435136904	0.45166	2.777849	0.223018592562521	0.51127	3.297985	0.999987765614562	0.51787	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	4.92	0.64147	5.770000	0.68526	8.419000	0.77144	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0739:0.0:0.9261:0.0	16.070	0.80726	914	0.21048	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	873.43	36	chr5	113143311	.	G	A	873.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.693;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.33;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,99,1485:.	9	0	1	0
chr5	113488342	113488342	-	GCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGCAGC:p.S24_S25insGS	Colorectal cancer, somatic	363	127	276	540	216	1572	0.842236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0034	0.0012	0	0.0243	0.0030	0.0081	0.0015	0.0001537	4	26028	rs775732898	0.0024	0.0026	0.0024	0.0024	0.0026	0.0023	0.0023	0.0021	0.0019	0.0026	0.0006	4.185e-05	3.23e-05	0.0173	0.0005	0.0020	0.0017	0.0020	0.0043	0.0044	0.0034	0.0053	0.0040	0.0040	0.0039	0.0035	0.0033	0.0040	0	0.0010	0	0	0.0283	0.0034	0.0024	0.0019	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	28670.6	128	chr5	113488342	.	T	TGCTGCC	28670.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=1166;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.44;ReadPosRankSum=0;SOR=0.706	GT:AD:DP:GQ:PL	0/0:0,0:111:99:2982,2982,2982	9	0	1	0
chr5	116015368	116015368	-	ATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2567_2568insATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG:p.Q857Yfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0006	0.0003	0.0001	0.0003	0.0005	0	0.0021	3.84e-05	1	26028	rs760127445	0.0002	0.0006	0.0001	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	9.111e-05	0.0002	0.0001	0.0001	0.0006	0	0.0002	0.0002	0.0002	0.0001	0.0016	9.04e-05	0.0001	0.0002	7.612e-05	6.311e-05	0.0001	7.945e-05	4.827e-05	0	0	0	0.0002	0.0002	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	140.39	138	chr5	116015368	.	T	TATATATATATATATGGAACTAAGACTATTACTTTGGAAAAGACCTG	140.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=594;ExcessHet=0;FS=27.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-2.601;SOR=3.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,990:.	9	0	1	0
chr5	116015370	116015370	-	TCACAGATGCTGGCTA	exonic	LVRN	.	stopgain	LVRN:NM_173800:exon17:c.2569_2570insTCACAGATGCTGGCTA:p.Q857Lfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	9.94e-05	0	0	0.0002	0	0	3.84e-05	1	26028	rs749164698	4.499e-06	0.0004	4.446e-06	4.552e-06	1.409e-05	1.62e-06	1.06e-06	.	.	0	0	0	0	9.164e-05	0	0	1.798e-05	1.409e-05	7.727e-06	0.0006	1.498e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	143.01	138	chr5	116015370	.	C	CTCACAGATGCTGGCTA	143.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.54;DP=663;ExcessHet=0;FS=27.602;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=-2.266;SOR=3.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,990:.	8	0	1	1
chr5	119134101	119134101	C	T	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon12:c.C2177T:p.A726V,DMXL1:NM_001290322:exon12:c.C1658T:p.A553V,DMXL1:NM_005509:exon12:c.C2177T:p.A726V,DMXL1:NM_001349239:exon13:c.C2177T:p.A726V,DMXL1:NM_001349240:exon13:c.C2177T:p.A726V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.14605528956	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312697686	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	0.94	0.43672	T	-3.78	0.71519	D	0.89	0.90251	-0.5095	0.68305	T	0.301	0.67176	T	9	0.77610016	0.77471	D	0.146055	0.82820	D	0.500	0.78350	0.357	0.35897	0.379559396232	0.37572	0.8436559584663397	0.84326	0.363131982536	0.37948	0.868579685688	0.92364	D	0.272763	0.76941	T	0.216773	0.75470	D	0.0736025	0.75151	D	0.996248662471771	0.88951	D	0.988501	0.96026	D	0.8040572	0.84165	0.68002355	0.81200	0.8040572	0.84167	0.68002355	0.81201	-8.713	0.65830	D	.	.	0.934	0.85795	P	.;.	.;.	4.738853	0.76397	26.5	0.99919780542108916	0.98654	0.98302	0.81423	D	AEFBI	0.870749	0.79184	D	0.801052545216315	0.86171	8.800886	0.777876996050408	0.88216	9.499908	0.999999999224703	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.54	5.54	0.82907	7.565000	0.81337	7.651000	0.63703	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.467	0.94937	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	42.02	131	chr5	119134101	.	C	T	42.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.412;DP=695;ExcessHet=0.2348;FS=314.114;InbreedingCoeff=-0.1029;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.18;ReadPosRankSum=1.26;SOR=8.789	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1227	8	0	2	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	88.02	45	chr5	119499449	.	T	C	88.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.661;DP=565;ExcessHet=0.2348;FS=190.794;InbreedingCoeff=-0.1028;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.78;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1237:.	8	0	2	0
chr5	128084245	128084263	GGCGGCGGCGGCGGCGGCA	0	exonic	SLC12A2	.	.	.	.	266	1207	29	2	18	51	0.0134859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	273.54	24	chr5	128084245	.	GGCGGCGGCGGCGGCGGCA	*	273.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=303;ExcessHet=0.2348;FS=2.276;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.72;ReadPosRankSum=-0.09;SOR=1.105	GT:AD:DP:GQ:PL	0/0:30,0:30:87:0,87,1305	9	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	151.08	54	chr5	128288438	.	C	G	151.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.632;DP=606;ExcessHet=0.2633;FS=262.712;InbreedingCoeff=-0.4006;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.15;SOR=8.409	GT:AD:DP:GQ:PL	0/0:28,0:28:2:0,2,559	2	0	2	6
chr5	128464822	128464822	A	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon6:c.T728C:p.I243T	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	141061	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Connective_tissue_disorder|not_specified|Congenital_contractural_arachnodactyly|Ehlers-Danlos_syndrome|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374|MONDO:MONDO:0007363,MedGen:C0220668,OMIM:121050,Orphanet:115|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.573	.	0.0044	0.0139776	0.0095	0.0013	0.0018	0.0452	0.0195	0.0079	0.0110	0.0036	0.0091267	1411	154602	rs117524265	0.0080	0.0080	0.0082	0.0079	0.0336	0.0079	0.0079	0.0321	0.0314	0.0014	0.0025	0.0054	0.0336	0.0218	0.0028	0.0071	0.0102	0.0042	0.0073	0.0073	0.0068	0.0079	0.0489	0.0070	0.0068	0.0439	0.0420	0.0017	0	0.0037	0.0075	0.0489	0.0197	0.0068	0.0068	0.0047	0.0060	0.029	0.45756	D	0.003	0.76473	D	0.643	0.48402	P	0.259	0.56206	B	0.001208	0.39820	N	0.170472	0.998986	0.49770	D	1.32	0.33002	L	-3.07	0.92508	D	-3.02	0.66896	D	0.509	0.64393	-0.2525	0.76292	T	0.280	0.65159	T	10	0.01372388	0.00290	T	.	.	.	0.573	0.82686	.	.	0.619256953891	0.61617	0.31737948892000467	0.31650	0.815876974771	0.66937	0.682099938393	0.64570	T	0.721378	0.92129	D	-0.202632	0.20424	T	-0.030262	0.68351	D	0.0387953833404298	0.03473	T	0.451355	0.30167	T	0.14350161	0.32979	0.15197314	0.35776	0.14142926	0.32588	0.15154345	0.35691	-10.61	0.77477	D	.	.	0.251	0.49816	B	.;.;.;.;.	.;.;.;.;.	3.586061	0.50577	23.0	0.99729381861837474	0.82619	0.97556	0.75524	D	AEFDBI	0.884879	0.81493	D	0.0539133952328473	0.44322	2.708436	0.139205746002901	0.46574	2.901094	0.999991492858483	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.82	3.65	0.40985	7.462000	0.79890	8.100000	0.76553	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.9241:0.0:0.0759:0.0	10.901	0.46263	777	0.48198	TB domain|TB domain;TB domain|TB domain;TB domain|TB domain;TB domain|TB domain;TB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.000000	0.000000	0.000000	0.000000	0.021341	0.011364	0.05	2301.43	36	chr5	128464822	.	A	G	2301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.001;DP=531;ExcessHet=0;FS=0.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.66;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1171	9	0	1	0
chr5	129658638	129658638	T	G	exonic	ADAMTS19	.	nonsynonymous SNV	ADAMTS19:NM_133638:exon15:c.T2326G:p.L776V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0114594654017	.	.	8.243e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs750485510	2.738e-06	2.736e-06	2.724e-06	2.752e-06	3.487e-05	6.4e-07	4.3e-07	9.26e-06	4.57e-06	0	0	0	0	0	0	0	1.657e-05	3.487e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.20480	B	0.021	0.19346	B	0.005030	0.33162	N	0.114263	0.952432	0.37784	D	1.275	0.32135	L	.	.	.	.	.	.	.	.	-1.0108	0.26666	T	0.151	0.47944	T	9	0.07774603	0.12307	T	0.011459	0.29107	T	0.009	0.00846	0.354	0.35408	0.285775778912	0.28195	0.40686378103085724	0.40602	0.173662969819	0.19551	0.502615272999	0.39192	T	0.07401	0.34835	T	-0.253176	0.13712	T	-0.500816	0.22264	T	0.135044544935226	0.15840	T	0.827017	0.49049	T	0.061322257	0.12684	0.05665378	0.10162	0.061322257	0.12684	0.05665378	0.10161	-4.798	0.34568	T	.	.	0.145	0.32005	B	.;.	.;.	1.877479	0.23851	16.17	0.99281580056418162	0.57938	0.15507	0.18946	N	AEFI	0.139552	0.26119	N	-0.625478748858729	0.18181	0.9418779	-0.57200703696552	0.20224	1.088634	1.11859935489635E-4	0.05269	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.89	1.29	0.20717	-0.267000	0.08648	-0.569000	0.08436	0.665000	0.62972	0.005000	0.17040	0.000000	0.08366	0.996000	0.76049	0.0:0.1703:0.1378:0.6918	5.872	0.18055	623	0.65786	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1119.43	34	chr5	129658638	.	T	G	1119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.692;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.987;SOR=0.726	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1294	9	0	1	0
chr5	132484464	132484464	C	T	exonic	IRF1	.	nonsynonymous SNV	IRF1:NM_001354924:exon8:c.G628A:p.V210M,IRF1:NM_002198:exon9:c.G751A:p.V251M	Gastric cancer, somatic;Myelodysplastic syndrome, preleukemic (3);Myelogenous leukemia, acute (3);Nonsmall cell lung cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.241006391943	0.0002	0.000199681	6.59e-05	0	0	0	0	8.992e-05	0	0.0001	6.47e-05	10	154602	rs201857248	2.394e-05	2.394e-05	2.314e-05	2.475e-05	5.974e-05	1.738e-05	1.539e-05	1.627e-05	1.382e-05	5.974e-05	0	0.0002	0	0	0	2.338e-05	0	3.478e-05	3.282e-05	3.281e-05	0	6.711e-05	5.88e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0.0003	0	0	0	5.88e-05	0	0	0.006	0.61437	D	0.021	0.58089	D	0.96	0.55278	D	0.483	0.47159	P	0.002704	0.36068	N	0.311359	0.533751	0.31469	N	2.535	0.73915	M	-5.38	0.99045	D	-0.67	0.19297	N	0.388	0.44283	0.985	0.96942	D	0.908	0.96936	D	10	0.2780866	0.45378	T	0.241006	0.88699	D	0.406	0.71869	.	.	0.776277967208	0.77421	0.19775666818965126	0.19692	1.56442157667	0.88085	0.489154726267	0.37321	T	0.311045	0.68296	T	0.218605	0.75644	D	0.257762	0.85989	D	0.266361085684498	0.23591	T	0.932007	0.74652	D	0.06287823	0.13181	0.05264306	0.08714	0.06287823	0.13180	0.05264306	0.08714	-4.14	0.25877	T	0.27865070195852165	0.37359	0.161	0.35767	B	.;.	.;.	3.996972	0.58871	24.0	0.99861502678415859	0.94002	0.62482	0.31795	D	AEFGBHCI	0.074862	0.15018	N	0.176077236314042	0.50052	3.199021	0.163096340398854	0.47841	3.008266	0.999999893597189	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.67	3.62	0.40616	1.307000	0.33121	3.318000	0.37521	0.599000	0.40250	0.837000	0.30238	0.998000	0.33993	0.958000	0.51230	0.0:0.6157:0.0:0.3843	4.956	0.13390	770	0.49152	Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	875.43	35	chr5	132484464	.	C	T	875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.701;DP=451;ExcessHet=0;FS=0.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=1.87;SOR=0.859	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr5	132575843	132575843	A	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.A280C:p.I94L	Nijmegen breakage syndrome-like disorder	9	1496	15	2	0	19	0.0063102	.	.	YES	133469	Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified|Nijmegen_breakage_syndrome-like_disorder|not_provided	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00370107637619	0.0035	0.00359425	0.0035	0.0005	0.0027	0.0005	0.0021	0.0038	0.0033	0.0067	0.0036416	563	154602	rs28903085	0.0046	0.0046	0.0046	0.0046	0.0064	0.0045	0.0044	0.0051	0.0050	0.0008	0.0027	0.0051	7.572e-05	0.0010	0.0064	0.0050	0.0044	0.0055	0.0032	0.0032	0.0033	0.0031	0.0050	0.0029	0.0029	0.0045	0.0044	0.0009	0	0.0029	0.0058	0	0.0006	0.0204	0.0050	0.0038	0.0050	0.355	0.12109	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.154400	0.17862	N	0.624374	1	0.81001	D	0.705	0.18577	N	3.34	0.06063	T	-1.12	0.28906	N	0.173	0.18512	-0.9428	0.42169	T	0.006	0.01944	T	10	0.0056197047	0.00125	T	0.003701	0.08558	T	0.071	0.20720	0.479	0.55823	0.225215365344	0.22153	0.4625633739563243	0.46174	.	.	0.303806602955	0.10971	T	0.062857	0.32026	T	-0.591207	0.00165	T	-0.618975	0.11265	T	0.003923648792296	0.00042	T	0.712729	0.32446	T	0.069781214	0.15317	0.052480403	0.08654	0.060842693	0.12531	0.061767086	0.11978	-4.37	0.29147	T	0.14829878222634302	0.17253	0.069	0.06617	B	.;.	.;.	0.216433	0.05992	2.434	0.85440592474170685	0.15894	0.13966	0.18150	N	AEFGBI	0.161992	0.28812	N	-1.43382704564989	0.02347	0.103534	-1.46262742958979	0.02658	0.1226273	0.964669951324794	0.28776	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	-10.2	0.00305	-0.012000	0.12637	-0.471000	0.08978	-0.562000	0.04833	0.026000	0.20160	0.000000	0.08366	0.981000	0.58702	0.1954:0.0:0.6292:0.1754	11.719	0.50934	820	0.40914	Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006552	0.005102	0.001359	0.023392	0.000000	0.008621	0.003049	0.000000	0.05	208.43	35	chr5	132575843	.	A	C	208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.349;DP=338;ExcessHet=0;FS=5.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=0.827;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,946	9	0	1	0
chr5	132588729	132588729	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon8:c.G1094A:p.R365Q	Nijmegen breakage syndrome-like disorder	0	1518	4	0	0	4	0.00131579	.	.	YES	133447	Hereditary_breast_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Nijmegen_breakage_syndrome-like_disorder|RAD50-related_disorder|Ovarian_cancer|not_specified|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|.|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	0.00697307627055	0.0003	0.000399361	0.0004	0	0.0002	0.0005	0	0.0006	0	0.0002	0.0003946	61	154602	rs146370443	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	5.975e-05	0.0002	3.827e-05	0.0005	9.361e-05	0.0009	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	4.828e-05	0	0.0003	0	0.0008	0.0004	0	0.0004	0.0005	0.0006	0.352	0.12226	T	0.447	0.23501	T	0.013	0.16609	B	0.003	0.08700	B	0.000394	0.44960	N	0.214869	0.954747	0.26358	N	2.045	0.56016	M	3.19	0.07353	T	-0.53	0.16393	N	0.215	0.24010	-0.9640	0.38409	T	0.018	0.07565	T	10	0.018426448	0.00401	T	0.006973	0.18458	T	0.077	0.22490	.	.	0.405700215632	0.40186	0.12579371767060307	0.12505	.	.	0.26303422451	0.05257	T	0.078765	0.35970	T	-0.532285	0.00372	T	-0.640456	0.09636	T	0.0303696812740507	0.02047	T	0.766923	0.40827	T	0.02597392	0.01598	0.030527333	0.01519	0.02597392	0.01597	0.030527333	0.01519	-5.043	0.37304	T	0.19981738974140087	0.26501	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	2.525130	0.32633	19.10	0.9942523093063208	0.63984	0.76733	0.37657	D	AEFBI	0.134178	0.25410	N	-0.429157971092481	0.24452	1.320385	-0.257658284455226	0.29509	1.653766	0.393482188844466	0.20067	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.97	4.22	0.49153	1.064000	0.30189	2.617000	0.33611	-0.106000	0.15538	0.963000	0.33788	0.636000	0.25890	0.933000	0.47100	0.2873:0.0:0.5675:0.1453	4.551	0.11512	827	0.39843	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	3153.43	34	chr5	132588729	.	G	A	3153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.417;DP=607;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=-1.335;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1010	9	0	1	0
chr5	132603365	132603365	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon14:c.A2273G:p.N758S	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	233358	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_ovarian_cancer_syndrome|Nijmegen_breakage_syndrome-like_disorder	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.096	0.00559309430227	7.7e-05	.	8.362e-06	0	0	0	0	1.526e-05	0	0	6.5e-06	1	154602	rs147568421	2.258e-05	2.257e-05	2.315e-05	2.201e-05	0.0001	1.611e-05	1.417e-05	5.851e-05	3.759e-05	0.0001	0	0	0	0	0	2.339e-05	1.656e-05	1.16e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.893	0.03108	T	0.226	0.30455	B	0.103	0.30945	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.05	0.56469	M	.	.	.	.	.	.	0.318	0.35832	-0.9090	0.46977	T	0.014	0.05369	T	10	0.2889511	0.46477	T	0.005593	0.14439	T	0.096	0.27654	.	.	0.602586112267	0.59941	0.1825352408345985	0.18172	.	.	0.529138982296	0.42913	T	0.063365	0.32158	T	-0.114719	0.33992	T	-0.387076	0.34894	T	0.881693840026855	0.53177	D	0.880112	0.59716	D	0.22418419	0.45055	0.14548804	0.34502	0.22418419	0.45055	0.14548804	0.34501	-3.293	0.13647	T	0.4376296796166142	0.52370	0.111	0.21541	B	.;.;.;.	.;.;.;.	2.751014	0.36062	20.1	0.98905074475003663	0.48254	0.98573	0.84247	D	AEFBI	0.877087	0.80150	D	0.0167796046794189	0.42618	2.571301	0.193928604916837	0.49512	3.153639	0.999999999587523	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	6.893000	0.75468	8.040000	0.76310	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.301	0.73652	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	921.43	34	chr5	132603365	.	A	G	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.399;DP=388;ExcessHet=0;FS=3.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.605;SOR=1.091	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	9	0	1	0
chr5	132603440	132603440	A	G	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon14:c.A2348G:p.E783G	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152207	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	0.00599465479304	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374550615	7.526e-06	7.524e-06	5.446e-06	9.627e-06	0.0002	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.094e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.45318	T	0.996	0.68779	D	0.883	0.62698	P	0.000000	0.84330	D	0.051486	1	0.81001	D	1.935	0.51832	L	.	.	.	.	.	.	0.728	0.72925	-1.1234	0.02127	T	0.034	0.14552	T	10	0.64749825	0.69411	D	0.005995	0.15638	T	0.291	0.61040	.	.	0.698509492642	0.69590	0.2630429116726125	0.26217	.	.	0.518446564674	0.41407	T	0.322394	0.69341	T	0.221623	0.75929	D	0.0805698	0.75615	D	0.936691701412201	0.60589	D	0.825317	0.48765	T	0.26030654	0.49087	0.31124777	0.57132	0.26030654	0.49087	0.31124777	0.57131	-6.287	0.48619	T	0.3079365990184664	0.40570	0.128	0.27373	B	.;.;.;.	.;.;.;.	4.209821	0.63596	24.6	0.99929517713596949	0.99279	0.99062	0.90669	D	AEFBI	0.910600	0.86873	D	0.626936297376999	0.74884	6.209182	0.656036641075826	0.79062	7.003457	0.999999990051678	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	8.676000	0.90929	9.278000	0.79691	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.301	0.73652	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	901.43	34	chr5	132603440	.	A	G	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.562;DP=410;ExcessHet=0;FS=2.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.015;SOR=0.529	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1151	9	0	1	0
chr5	132603986	132603986	G	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon15:c.G2464C:p.D822H	Nijmegen breakage syndrome-like disorder	.	.	.	.	.	.	.	.	.	.	152208	Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00228876179948	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587782501	5.475e-06	5.472e-06	5.448e-06	5.503e-06	0.0002	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0.0002	6.298e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.41239	T	0.001	0.07471	B	0.003	0.08700	B	0.018534	0.27462	N	0.444430	0.998705	0.23691	N	1.39	0.34934	L	.	.	.	.	.	.	0.212	0.23632	-1.0304	0.20325	T	0.029	0.12409	T	10	0.11068222	0.20698	T	0.002289	0.04397	T	0.021	0.04004	0.415	0.45380	0.443999229985	0.44019	0.26529107436185095	0.26442	.	.	0.365473985672	0.20180	T	0.143182	0.47916	T	-0.130523	0.31413	T	-0.425263	0.30473	T	0.256202459335327	0.23148	T	0.827017	0.49049	T	0.036515236	0.04506	0.07757694	0.17296	0.036515236	0.04506	0.07757694	0.17296	-5.522	0.42073	T	0.3779003437927019	0.47268	0.140	0.30765	B	.;.;.;.	.;.;.;.	3.011011	0.40265	21.1	0.95105397780120438	0.26185	0.83094	0.42241	D	AEFDBCI	0.330173	0.43029	N	-0.52541795849528	0.21260	1.126994	-0.365345658435262	0.26038	1.435722	0.99991048555616	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.67	1.78	0.23918	2.480000	0.44865	3.909000	0.40397	-0.153000	0.12021	0.983000	0.35670	1.000000	0.68203	0.982000	0.59238	0.3725:0.1281:0.4994:0.0	5.826	0.17808	832	0.38914	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1483.43	34	chr5	132603986	.	G	C	1483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.026;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.057;SOR=0.682	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1144	9	0	1	0
chr5	132674480	132674480	G	A	exonic	IL4	.	nonsynonymous SNV	IL4:NM_000589:exon2:c.G157A:p.V53I,IL4:NM_001354990:exon2:c.G157A:p.V53I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0116686468614	.	0.00139776	0.0005	9.61e-05	0	0.0051	0	4.496e-05	0	0.0004	0.0004269	66	154602	rs56279116	0.0005	0.0005	0.0004	0.0005	0.0147	0.0004	0.0004	0.0137	0.0134	2.987e-05	4.472e-05	0	0.0147	0	0	2.248e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0060	0.0002	0.0002	0.0043	0.0038	4.81e-05	0	6.536e-05	0	0.0060	0	0	2.941e-05	0	0.0010	0.118	0.28148	T	0.206	0.42261	T	0.041	0.21357	B	0.046	0.24676	B	0.047615	0.23328	N	0.309039	1	0.21411	N	1.39	0.34934	L	0.41	0.57100	T	-0.69	0.19720	N	0.156	0.17553	-1.0371	0.18202	T	0.064	0.26667	T	10	0.003993273	0.00077	T	0.011669	0.29526	T	0.060	0.17295	.	.	0.500742145641	0.49711	0.6366352537435662	0.63597	0.248012543793	0.27358	0.34498539567	0.17181	T	0.332662	0.70260	T	-0.459363	0.00992	T	-0.431667	0.29747	T	0.0248118219843452	0.01248	T	0.683132	0.29138	T	0.090402946	0.21154	0.12943381	0.31121	0.090402946	0.21154	0.12943381	0.31120	-3.71	0.19466	T	.	.	0.073	0.08997	B	.;.	.;.	0.643935	0.10126	6.869	0.89704865216193252	0.19028	0.06170	0.12153	N	AEFGBCIJ	0.048562	0.08300	N	-1.19955586557057	0.05007	0.2272908	-1.1809140736528	0.06228	0.2991619	0.999930703632652	0.46732	0.393558	0.05922	0	0.518115	0.08659	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.57	1.69	0.23290	0.891000	0.27944	1.214000	0.24928	-0.732000	0.03721	0.073000	0.22155	0.640000	0.25910	0.003000	0.05239	0.2775:0.0:0.7225:0.0	9.418	0.37697	874	0.30607	Interleukin-4/interleukin-13, conserved site;Interleukin-4/interleukin-13, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	2688.43	42	chr5	132674480	.	G	A	2688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=537;ExcessHet=0;FS=3.098;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-1.464;SOR=0.924	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	9	0	1	0
chr5	132734415	132734415	G	A	exonic	KIF3A	.	nonsynonymous SNV	KIF3A:NM_001300791:exon2:c.C70T:p.L24F,KIF3A:NM_001300792:exon2:c.C70T:p.L24F,KIF3A:NM_007054:exon2:c.C70T:p.L24F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0164701016698	.	.	8.237e-06	0	0	0	0	0	0	6.057e-05	3.84e-05	1	26028	rs771430307	2.052e-06	2.052e-06	1.361e-06	2.75e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.38633	T	0.094	0.43913	T	0.148	0.47827	B	0.186	0.46994	B	0.000064	0.52346	D	0.170356	0.999999	0.58761	D	0.79	0.19579	N	-0.83	0.74159	T	-2.34	0.58085	N	0.157	0.22870	-0.6472	0.62835	T	0.279	0.65037	T	10	0.34197432	0.51237	T	0.01647	0.37742	T	0.154	0.40340	0.628	0.76366	0.408018266311	0.40413	0.4395177681185294	0.43868	0.90978147764	0.71011	0.55196160078	0.46135	T	0.584997	0.87362	D	-0.137593	0.30273	T	-0.338565	0.40506	T	0.614564955234528	0.36985	D	0.852415	0.55722	D	0.13962452	0.32245	0.13969004	0.33322	0.13962452	0.32245	0.13969004	0.33322	-4.644	0.32720	T	.	.	0.173	0.41663	B	.;.;.;.;.	.;.;.;.;.	4.175559	0.62817	24.5	0.99611395383907353	0.74813	0.87970	0.47699	D	AEFBI	0.165869	0.29240	N	0.196630845422751	0.51037	3.288282	0.321459646164172	0.56804	3.844225	0.992919484242646	0.33015	0.732398	0.92422	0	0.581341	0.33841	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.88	4.91	0.63897	1.823000	0.38700	9.750000	0.81468	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.1491:0.0:0.8509:0.0	11.254	0.48275	892	0.26670	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1246.43	34	chr5	132734415	.	G	A	1246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.04;DP=433;ExcessHet=0;FS=1.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-0.044;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1282	9	0	1	0
chr5	132813630	132813630	-	GCCGCC	exonic	SOWAHA	.	nonframeshift insertion	SOWAHA:NM_175873:exon1:c.9_10insGCCGCC:p.A12_G13insAA	.	447	538	372	158	7	695	0.390023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0	0	.	.	0	0	0.0079	0.0001537	4	26028	rs566990199	0.0003	0.0071	0.0003	0.0003	0.0009	0.0003	0.0003	0.0007	0.0006	0	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0015	0.0009	0.0003	0.0003	0.0004	0.0002	0.0014	0.0002	0.0002	0.0006	0.0005	0.0003	0	0.0007	0	0.0014	0.0003	0	2.977e-05	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2105.29	11	chr5	132813630	.	G	GGCCGCC	2105.29	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.731;DP=151;ExcessHet=0.0657;FS=8.292;InbreedingCoeff=0.3939;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=29.65;ReadPosRankSum=-1.524;SOR=2.119	GT:AD:DP:GQ:PL	0/0:0,0:13:39:585,585,585	9	0	1	0
chr5	132873725	132873725	A	G	exonic	LEAP2	.	nonsynonymous SNV	LEAP2:NM_052971:exon1:c.A31G:p.M11V	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	7.7e-05	0.00678914	0.0022	0	0	0.0305	0	4.495e-05	0	0.0003	0.0020957	324	154602	rs117541219	0.0007	0.0007	0.0008	0.0006	0.0235	0.0007	0.0007	0.0223	0.0218	2.987e-05	4.472e-05	0	0.0235	0	0.0002	1.979e-05	0.0008	0.0003	0.0010	0.0010	0.0008	0.0011	0.0278	0.0009	0.0008	0.0241	0.0227	2.407e-05	0	0.0002	0	0.0278	0	0	1.47e-05	0	0.0004	0.419	0.09866	T	0.461	0.12562	T	0.0	0.02946	B	0.002	0.06944	B	0.003884	0.34365	N	0.346304	1	0.08975	N	.	.	.	.	.	.	-0.78	0.21644	N	0.182	0.19728	-1.0768	0.07983	T	0.014	0.05608	T	8	0.00301072	0.00049	T	.	.	.	0.044	0.11924	.	.	0.0138822411134	0.00435	0.30081115799719915	0.29994	0.0588156460975	0.06527	0.391605824232	0.23896	T	0.020997	0.16432	T	-0.543224	0.00320	T	-0.530768	0.19210	T	0.0103267972775616	0.00141	T	0.570643	0.20320	T	0.04609151	0.07657	0.041565564	0.04752	0.04609151	0.07657	0.041565564	0.04751	-1.821	0.02573	T	.	.	0.070	0.03336	B	.	.	0.017580	0.04404	1.146	0.67490952140397564	0.08370	0.20063	0.20900	N	AEFDGBHCI	0.426125	0.49061	N	-0.937906721660598	0.09966	0.4740554	-0.973500211786367	0.10383	0.5225706	0.999999999601567	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.741806	0.99463	0	.	.	6.17	-2.87	0.05359	-0.217000	0.09258	0.203000	0.15874	0.756000	0.94297	0.001000	0.13787	0.000000	0.08366	0.177000	0.21203	0.2339:0.4335:0.0694:0.2632	3.541	0.07368	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1689.43	33	chr5	132873725	.	A	G	1689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.558;DP=474;ExcessHet=0;FS=1.929;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.49;SOR=0.636	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	9	0	1	0
chr5	133099561	133099561	C	G	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon16:c.C1946G:p.T649S	.	429	1067	26	0	0	26	0.012037	.	.	.	698787	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0042	0.0061901	0.0058	0.0010	0.0030	0.0002	0.0033	0.0052	0.0066	0.0174	0.0057308	886	154602	rs61755723	0.0051	0.0052	0.0045	0.0056	0.0169	0.0050	0.0049	0.0161	0.0159	0.0010	0.0033	0.0020	5.068e-05	0.0037	0.0080	0.0046	0.0049	0.0169	0.0050	0.0050	0.0048	0.0052	0.0197	0.0047	0.0046	0.0165	0.0153	0.0011	0.0493	0.0038	0.0006	0	0.0040	0.0068	0.0068	0.0052	0.0197	0.478	0.08286	T	0.429	0.13752	T	0.002	0.09854	B	0.004	0.10090	B	0.000028	0.55875	N	0.160338	0.68748	0.33293	D	-0.71	0.01811	N	2.6	0.13204	T	-0.51	0.15986	N	0.174	0.18649	-1.0056	0.28277	T	0.010	0.03582	T	10	0.0036255717	0.00066	T	.	.	.	0.057	0.16321	0.249	0.18602	0.196089822672	0.19227	0.10264040857227065	0.10194	0.202026147214	0.22620	0.415988326073	0.27284	T	0.267413	0.63945	T	-0.638053	0.00086	T	-0.675669	0.07250	T	0.00821585098133613	0.00098	T	0.749425	0.37642	T	0.0437325	0.06868	0.050734777	0.08024	0.0437325	0.06868	0.050734777	0.08024	-1.711	0.02258	T	.	.	0.083	0.10883	B	.;.	.;.	2.578094	0.33423	19.33	0.95377103350930414	0.26797	0.97333	0.74089	D	AEFBI	0.784843	0.71540	D	-0.392783904220302	0.25725	1.398639	-0.147282840296757	0.33514	1.918	0.930782197195098	0.27021	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	4.25	0.49658	4.682000	0.61360	4.926000	0.46086	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.847:0.0:0.153	10.161	0.42026	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.006793	0.008824	0.000000	0.000000	0.006098	0.022727	0.05	384.43	34	chr5	133099561	.	C	G	384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=352;ExcessHet=0;FS=1.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-2.275;SOR=1.096	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1132	9	0	1	0
chr5	133220831	133220831	C	T	exonic	FSTL4	.	nonsynonymous SNV	FSTL4:NM_015082:exon12:c.G1375A:p.D459N	.	432	1076	13	1	0	15	0.00692201	.	.	.	698788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.115	0.0117611001569	0.0061	0.00239617	0.0062	0.0028	0.0021	0	0.0062	0.0080	0.0077	0.0073	0.0061966	958	154602	rs140221506	0.0076	0.0077	0.0076	0.0077	0.0082	0.0075	0.0075	0.0081	0.0080	0.0019	0.0032	0.0100	0.0001	0.0079	0.0049	0.0082	0.0071	0.0077	0.0063	0.0064	0.0063	0.0064	0.0095	0.0060	0.0059	0.0088	0.0086	0.0018	0.0022	0.0050	0.0075	0	0.0083	0.0170	0.0095	0.0061	0.0079	0.081	0.33418	T	0.176	0.32675	T	0.555	0.38231	P	0.072	0.28043	B	0.000119	0.50451	N	0.199882	0.999979	0.53665	D	1.59	0.40313	L	1.55	0.29866	T	-3.51	0.68298	D	0.404	0.44570	-1.0246	0.22214	T	0.096	0.36029	T	10	0.007791519	0.00177	T	0.011761	0.29704	T	0.115	0.32236	.	.	0.34707237187	0.34319	0.38779129765917475	0.38694	0.266224386243	0.29168	0.577506661415	0.49735	T	0.523491	0.83379	D	-0.543929	0.00317	T	-0.542416	0.18060	T	0.0285788373820882	0.01774	T	0.836816	0.50885	T	0.23058847	0.45816	0.1612464	0.37517	0.23058847	0.45816	0.1612464	0.37516	-5.321	0.46422	T	.	.	0.091	0.13080	B	.;.	.;.	2.016703	0.25627	16.83	0.9983343501885944	0.91456	0.95919	0.66721	D	AEFDBIJ	0.586019	0.58422	D	0.118821980027599	0.47340	2.961171	0.102776075554311	0.44690	2.745912	0.999999995827743	0.74766	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.447301	0.06993	0	.	.	5.48	4.6	0.56512	4.691000	0.61424	0.598000	0.19894	0.549000	0.26987	1.000000	0.71638	0.088000	0.22492	0.376000	0.26245	0.0:0.9246:0.0:0.0754	13.541	0.61134	887	0.27948	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.020202	0.004076	0.000000	0.000000	0.017241	0.000000	0.007576	0.05	2091.43	34	chr5	133220831	.	C	T	2091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=481;ExcessHet=0;FS=4.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.555;SOR=1.036	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1271	9	0	1	0
chr5	134411827	134411827	C	T	exonic	CDKN2AIPNL	.	nonsynonymous SNV	CDKN2AIPNL:NM_080656:exon1:c.G28A:p.V10M	.	429	1092	1	0	0	1	0.000457666	.	.	.	2335770	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0211273443535	9e-05	.	0.0002	0	0	0	0	0.0003	0	0	8.41e-05	13	154602	rs370981313	4.76e-05	5.13e-05	4.86e-05	4.658e-05	0.0007	3.814e-05	3.491e-05	0.0003	0.0002	0	2.475e-05	0.0006	0	0	0.0007	3.647e-05	0.0001	2.417e-05	8.54e-05	8.536e-05	0.0001	4.034e-05	8.821e-05	4.956e-05	3.962e-05	3.762e-05	2.575e-05	0	0	6.542e-05	0.0017	0	0	0	8.821e-05	0	0	0.002	0.78490	D	0.005	0.72224	D	0.01	0.15535	B	0.011	0.15521	B	0.000066	0.52346	D	0.076254	0.971932	0.25627	N	2.375	0.68372	M	.	.	.	-1.26	0.31778	N	0.249	0.32037	-0.9781	0.35435	T	0.084	0.32843	T	9	0.039554954	0.02454	T	0.021127	0.43850	T	0.209	0.49871	.	.	0.286465849087	0.28247	0.7738266644849676	0.77332	0.403789402915	0.41303	0.813044607639	0.83959	D	0.035737	0.23835	T	-0.243063	0.14961	T	-0.361218	0.37910	T	0.166675891340026	0.18351	T	0.868913	0.58964	D	0.18961164	0.40511	0.2244952	0.47364	0.18961164	0.40510	0.2244952	0.47363	-5.002	0.45716	T	.	.	0.270	0.51086	B	.;.	.;.	3.228642	0.44022	21.9	0.96218434615621484	0.29079	0.72503	0.35485	D	AEFGBHCIJ	0.589791	0.58653	D	-0.445067540263239	0.23907	1.287194	-0.377692229267892	0.25663	1.412715	0.999999999999985	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.7	2.84	0.32241	3.895000	0.55971	.	.	-0.236000	0.07595	0.319000	0.25494	1.000000	0.68203	0.013000	0.09966	0.3232:0.4337:0.1567:0.0864	3.122	0.06009	737	0.53483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	190.43	34	chr5	134411827	.	C	T	190.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=277;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.465;SOR=0.986	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,562	9	0	1	0
chr5	134686808	134686808	C	A	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon10:c.C1510A:p.P504T,SEC24A:NM_021982:exon10:c.C1510A:p.P504T	.	.	.	.	.	.	.	.	.	.	.	2198270	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.477	0.0902209086107	0.0002	.	5.808e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs201822745	3.243e-05	3.283e-05	3.157e-05	3.329e-05	0.0005	2.499e-05	2.239e-05	0.0001	7.591e-05	0	2.349e-05	0.0005	0	0	0.0005	1.988e-05	8.341e-05	2.397e-05	4.601e-05	4.597e-05	7.709e-05	1.346e-05	6.557e-05	2.11e-05	1.527e-05	.	.	0	0	6.557e-05	0.0017	0	0	0	0	0	0	0.14	0.58626	T	0.012	0.63918	D	0.914	0.50529	P	0.656	0.52685	P	0.000000	0.84330	D	0.048243	0.999992	0.58761	D	2.14	0.59869	M	-1.15	0.77964	T	-1.12	0.31778	N	0.665	0.67391	0.215	0.86172	D	0.602	0.85843	D	10	0.42379203	0.57038	T	0.090221	0.75476	D	0.477	0.76881	.	.	0.908468115496	0.90754	0.7153714600213236	0.71480	0.445512622103	0.44443	0.715964019299	0.69459	T	0.150147	0.48948	T	0.0123332	0.53343	T	-0.0868991	0.64394	T	0.154740833738909	0.17474	T	0.959504	0.84742	D	0.45788324	0.64539	0.26650387	0.52497	0.45788324	0.64540	0.26650387	0.52496	-9.234	0.69191	D	.	.	0.790	0.76805	P	.;.	.;.	4.191318	0.63170	24.5	0.98652126459717882	0.44206	0.96122	0.67633	D	AEFBI	0.748241	0.69005	D	0.677406753690085	0.78153	6.814305	0.698203917522521	0.82243	7.718793	0.99999386251934	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.836000	0.62479	.	.	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.062	0.97678	568	0.70638	Sec23/Sec24, trunk domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1009.43	33	chr5	134686808	.	C	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.798;SOR=0.7	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr5	134857372	134857372	C	G	exonic	C5orf24	.	nonsynonymous SNV	C5orf24:NM_001300894:exon3:c.C443G:p.A148G	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0154341635689	.	.	0.0026	0	0	0	0	0.0073	0	0.0001	0.0003881	60	154602	rs373114001	0.0006	0.0006	0.0006	0.0006	0.0090	0.0006	0.0006	0.0070	0.0063	0.0002	0.0008	0.0176	0	0	0.0090	0.0002	0.0016	5.064e-05	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0002	0.0002	4.814e-05	0	0.0005	0.0124	0.0002	0	0.0034	0.0003	0.0009	0	0.384	0.11050	T	0.144	0.33109	T	0.179	0.28995	B	0.14	0.33554	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-1.38	0.34198	N	0.433	0.47208	-0.5003	0.68639	T	0.325	0.69324	T	7	0.005982846	0.00134	T	0.015434	0.36156	T	0.166	0.42578	.	.	0.290620346082	0.28682	.	.	.	.	.	.	.	.	.	.	-0.301252	0.08543	T	-0.266102	0.48214	T	0.0280683218385178	0.01699	T	0.531747	0.17685	T	.	.	.	.	.	.	.	.	-3.34	0.14259	T	.	.	0.211	0.43922	B	.	.	2.012634	0.25571	16.81	0.97443899675765389	0.33992	0.95302	0.64194	D	AEFGBI	0.512019	0.54041	D	0.286366262906624	0.55457	3.709744	0.370196485648256	0.59731	4.15373	0.999986398379889	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	6.06	5.18	0.71140	3.614000	0.53901	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.929:0.0:0.071	14.464	0.67051	796	0.45353	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	598.43	33	chr5	134857372	.	C	G	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.121;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.818;SOR=0.58	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	9	0	1	0
chr5	136059152	136059152	G	A	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon13:c.G1741A:p.G581R	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	892919	Corneal_dystrophy	Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.677	0.189638166505	0.0002	.	0.0002	0	0.0002	0.0001	0	0.0003	0.0014	7.844e-05	0.0001682	26	154602	rs200887459	0.0001	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	7.205e-05	5.541e-05	2.991e-05	6.757e-05	0.0054	2.521e-05	0	0.0004	3.421e-05	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.243e-05	8.876e-05	5.385e-05	0	0	0.0003	0.0055	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.018	0.59732	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.13	0.59329	M	-2.88	0.91533	D	-3.56	0.68880	D	0.92	0.92317	-0.2468	0.76445	T	0.431	0.77277	T	10	0.3132028	0.48773	T	0.189638	0.86075	D	0.788	0.92988	0.521	0.62368	0.959502939549	0.95907	0.9414456165461513	0.94125	0.327434873958	0.34880	0.722441017628	0.70402	T	0.730044	0.92437	D	0.289466	0.82111	D	0.403723	0.92231	D	0.23852839643157	0.22351	T	0.949605	0.80601	D	0.8247368	0.85541	0.6811218	0.81261	0.8247368	0.85542	0.6811218	0.81262	-13.821	0.92461	D	0.663551305453614	0.73743	0.428	0.61098	A	.	.	4.858888	0.79490	27.1	0.99931844515136503	0.99387	0.83910	0.43001	D	AEFDBCI	0.975735	0.99635	D	0.604433698425129	0.73454	5.968803	0.660412205067538	0.79388	7.071949	1.0	0.98316	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.52	5.52	0.82153	8.950000	0.92925	9.989000	0.82972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.921000	0.45669	0.0:0.0:1.0:0.0	19.809	0.96535	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	353.43	36	chr5	136059152	.	G	A	353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.58;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=0.278;SOR=0.622	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	9	0	1	0
chr5	137906421	137906421	T	C	exonic	PKD2L2	.	nonsynonymous SNV	PKD2L2:NM_001258448:exon6:c.T962C:p.L321S,PKD2L2:NM_001258449:exon6:c.T962C:p.L321S,PKD2L2:NM_001300921:exon6:c.T962C:p.L321S,PKD2L2:NM_014386:exon6:c.T962C:p.L321S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.122047959102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.78490	D	0.006	0.79402	D	0.766	0.48338	P	0.756	0.56253	P	0.202116	0.16574	N	0.478549	0.834841	0.34974	D	1.75	0.45442	L	-0.63	0.72011	T	-3.81	0.74661	D	0.721	0.72567	-0.2468	0.76445	T	0.381	0.73788	T	9	0.910351	0.90399	D	0.122048	0.80294	D	0.536	0.80545	0.728	0.86198	0.901118735053	0.90013	0.7312284619299615	0.73067	0.803677743758	0.66365	0.366009712219	0.20258	T	0.60138	0.87229	D	0.0864605	0.62788	D	-0.113582	0.62325	T	0.983352780342102	0.75052	D	0.777822	0.49240	T	0.45351657	0.64264	0.6442228	0.79204	0.45351657	0.64265	0.6442228	0.79205	-9.027	0.76421	D	.	.	0.285	0.52152	B	.;.;.;.	.;.;.;.	4.336977	0.66507	25.0	0.9984319673270835	0.92316	0.98597	0.84519	D	AEFI	0.894520	0.83357	D	0.433111648848361	0.63252	4.555418	0.480681553214537	0.66710	4.987782	0.999999774617012	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	7.988000	0.87839	6.145000	0.54110	0.609000	0.47794	0.985000	0.35982	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	14.914	0.70423	144	0.94257	.;.;Polycystin cation channel, PKD1/PKD2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	576.43	50	chr5	137906421	.	T	C	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.16;DP=327;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.689;SOR=0.917	GT:AD:DP:GQ:PL	0/0:29,0:29:84:0,84,1260	9	0	1	0
chr5	138138780	138138780	T	-	exonic	NME5	.	startloss	NME5:NM_003551:exon2:c.1delA:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.254e-06	9.684e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs764022257	6.892e-07	6.84e-07	0	1.385e-06	3.063e-05	0	0	.	.	3.063e-05	0	0	0	0	0	0	0	0	1.971e-05	1.97e-05	1.285e-05	2.691e-05	0.0002	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	554.39	34	chr5	138138779	.	AT	A	554.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.308;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.11;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr5	138164728	138164728	T	C	exonic	BRD8	.	nonsynonymous SNV	BRD8:NM_001300962:exon11:c.A1594G:p.N532D,BRD8:NM_001164326:exon12:c.A1726G:p.N576D,BRD8:NM_001300961:exon12:c.A1669G:p.N557D,BRD8:NM_139199:exon12:c.A1717G:p.N573D,BRD8:NM_001300966:exon13:c.A1399G:p.N467D,BRD8:NM_006696:exon13:c.A1936G:p.N646D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00455562876316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.431	0.31936	T	0.004	0.12183	B	0.007	0.12992	B	0.307776	0.03995	N	1.409790	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	-0.78	0.25986	N	0.044	0.10626	-1.0516	0.13954	T	0.041	0.17573	T	10	0.048936993	0.04413	T	0.004556	0.11220	T	0.018	0.03083	0.145	0.04843	0.154104182512	0.14974	0.0670860488321433	0.06646	0.202752203935	0.22694	0.325494110584	0.14253	T	0.007355	0.13159	T	-0.372747	0.03458	T	-0.773201	0.02664	T	0.0680245513299176	0.08371	T	0.863414	0.55914	D	0.06825728	0.14856	0.06806362	0.14166	0.06825728	0.14856	0.06806362	0.14166	-1.37	0.01518	T	.	.	0.077	0.12560	B	.;.;.;.;.;.	.;.;.;.;.;.	0.391899	0.07635	4.300	0.81681916543161048	0.13807	0.05727	0.11652	N	AEFBI	0.044260	0.07099	N	-1.50329534246021	0.01828	0.0801478	-1.50294549398625	0.02321	0.106584	0.904032688332301	0.26168	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	-7.67	0.01133	-1.700000	0.02005	-2.519000	0.03656	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.969000	0.54022	0.1937:0.4546:0.099:0.2527	4.630	0.11881	172	0.93355	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1365.43	35	chr5	138164728	.	T	C	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.586;DP=407;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.772;SOR=0.551	GT:AD:DP:GQ:PL	0/1:38,52:90:99:1377,0,966	9	0	1	0
chr5	138179811	138179811	C	T	exonic	KIF20A	.	nonsynonymous SNV	KIF20A:NM_005733:exon2:c.C131T:p.S44F	.	433	1086	3	0	0	3	0.00137931	.	.	.	698797	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.265	0.121507769	0.0035	0.00259585	0.0029	0.0007	0.0032	0	0.0002	0.0043	0.0033	0.0008	0.0029301	453	154602	rs150704301	0.0038	0.0038	0.0038	0.0037	0.0043	0.0037	0.0037	0.0042	0.0042	0.0006	0.0034	0.0068	5.038e-05	0.0002	0.0036	0.0043	0.0038	0.0011	0.0029	0.0029	0.0030	0.0027	0.0045	0.0026	0.0025	0.0041	0.0039	0.0007	0.0044	0.0036	0.0055	0	9.443e-05	0.0034	0.0045	0.0033	0.0019	0.001	0.78490	D	0.01	0.79402	D	0.999	0.77913	D	0.996	0.84481	D	0.001016	0.40652	N	0.000000	0.999997	0.58761	D	2.05	0.56469	M	0.55	0.71779	T	-3.5	0.70553	D	0.426	0.47208	-0.2578	0.76147	T	0.325	0.69350	T	10	0.0081786215	0.00185	T	0.121508	0.80228	D	0.265	0.57870	.	.	0.847319734358	0.84586	0.6653082964175507	0.66467	2.41629501903	0.97238	0.419259250164	0.27735	T	0.20892	0.66710	T	-0.280932	0.10569	T	-0.175087	0.56975	T	0.0284616953136303	0.01756	T	0.854315	0.54093	D	0.46925637	0.65244	0.43685216	0.67124	0.46925637	0.65245	0.43685216	0.67124	-5.586	0.46546	T	.	.	0.237	0.49206	B	.;.;.;.	.;.;.;.	4.808042	0.78192	26.8	0.99807671343019477	0.89174	0.91326	0.53308	D	AEFDBHCI	0.744066	0.68717	D	0.507703396928415	0.67544	5.095836	0.508662832687037	0.68573	5.238545	0.999999999340629	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.685571	0.62057	0	0.621717	0.48901	0	.	.	5.43	4.56	0.55644	5.812000	0.68868	5.957000	0.51754	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.928:0.0:0.072	14.265	0.65659	172	0.93355	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	998.43	33	chr5	138179811	.	C	T	998.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.124;DP=412;ExcessHet=0;FS=2.839;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-2.06;SOR=1.032	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1010,0,1415	9	0	1	0
chr5	138257648	138257648	G	A	exonic	GFRA3	.	nonsynonymous SNV	GFRA3:NM_001496:exon4:c.C776T:p.P259L	.	426	1093	3	0	0	3	0.00137049	.	.	.	3258342	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00932382881748	0.0002	0.000199681	0.0002	0.0005	0.0004	0	0	0.0002	0.0030	0.0001	0.0001423	22	154602	rs202238427	0.0001	0.0001	0.0001	0.0002	0.0078	0.0001	0.0001	0.0059	0.0053	0.0004	0.0003	0	0	1.943e-05	0.0078	8.283e-05	0.0003	0.0001	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0003	0	0	0	0	4.41e-05	0.0014	0	0.809	0.05152	T	0.541	0.13792	T	0.213	0.30041	B	0.026	0.20792	B	0.213043	0.16318	N	0.644563	0.999996	0.08975	N	1.78	0.46185	L	-0.07	0.63738	T	-2.56	0.55339	D	0.138	0.13626	-1.0367	0.18326	T	0.131	0.44268	T	10	0.06847432	0.09690	T	0.009324	0.24459	T	0.057	0.16321	.	.	0.756832680445	0.75462	0.6708975461751737	0.67027	1.26099718481	0.82023	0.440696179867	0.30672	T	0.176508	0.52647	T	-0.439083	0.01309	T	-0.499739	0.22374	T	0.0421947278082371	0.04090	T	0.616038	0.23564	T	0.1185666	0.27933	0.10179483	0.24379	0.1185666	0.27933	0.10179483	0.24379	-4.736	0.33836	T	.	.	0.102	0.17911	B	.;.	.;.	0.730210	0.10996	7.655	0.37827899425553801	0.02516	0.04880	0.10622	N	AEFBI	0.073381	0.14677	N	-0.64401200921902	0.17635	0.9091077	-0.626776709193095	0.18806	1.006256	1.32345764224134E-5	0.02871	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.81	3.8	0.42887	0.375000	0.20248	0.465000	0.18656	0.676000	0.76740	0.011000	0.18532	0.000000	0.08366	0.027000	0.12703	0.1891:0.0:0.8109:0.0	5.210	0.14633	240	0.90628	GDNF/GAS1|GDNF/GAS1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002533	0.010204	0.002717	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	365.43	34	chr5	138257648	.	G	A	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=376;ExcessHet=0;FS=1.164;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=0.059;SOR=0.518	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr5	138290666	138290666	C	G	exonic	CDC25C	.	nonsynonymous SNV	CDC25C:NM_022809:exon6:c.G618C:p.Q206H,CDC25C:NM_001364028:exon7:c.G708C:p.Q236H,CDC25C:NM_001287582:exon9:c.G837C:p.Q279H,CDC25C:NM_001287583:exon9:c.G1071C:p.Q357H,CDC25C:NM_001318098:exon9:c.G888C:p.Q296H,CDC25C:NM_001364026:exon9:c.G1071C:p.Q357H,CDC25C:NM_001790:exon9:c.G837C:p.Q279H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0028023457777	.	.	8.243e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs775523348	5.487e-06	5.473e-06	0	1.103e-05	0.0003	2.36e-06	1.71e-06	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	0	1.66e-05	5.804e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.723	0.07211	T	0.269	0.37037	T	0.93	0.56768	P	0.365	0.52639	B	0.451606	0.12500	N	0.749252	1	0.08975	N	1.32	0.33002	L	2.5	0.23082	T	-0.18	0.12847	N	0.122	0.13484	-1.0705	0.09304	T	0.039	0.16634	T	10	0.062629044	0.08037	T	0.002802	0.05840	T	0.077	0.22490	0.378	0.39319	0.3571064206	0.35317	0.30399581988511487	0.30312	0.434166070331	0.43544	0.306147366762	0.11325	T	0.167743	0.51448	T	-0.294057	0.09232	T	-0.559539	0.16420	T	0.425309658050537	0.29887	T	0.0286971	0.00216	T	0.036910556	0.04632	0.03190018	0.01845	0.036910556	0.04631	0.03190018	0.01845	-4.101	0.35053	T	.	.	0.111	0.24967	B	.;.;.;.;.	.;.;.;.;.	1.133953	0.15208	11.67	0.97116135582135643	0.32434	0.21138	0.21295	N	AEFDBI	0.049917	0.08673	N	-0.686401650310987	0.16408	0.8357139	-0.695274466251396	0.17078	0.9064718	2.72290161979057E-4	0.06300	0.706298	0.61202	0	0.615513	0.52658	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.19	0.469	0.15952	0.407000	0.20770	-0.174000	0.11198	-0.265000	0.06832	0.985000	0.35982	0.000000	0.08366	0.810000	0.38174	0.1281:0.3358:0.2244:0.3117	1.171	0.01714	406	0.82375	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	723.43	35	chr5	138290666	.	C	G	723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.589;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-1.55;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1003	9	0	1	0
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	592.14	33	chr5	138386226	.	G	A	592.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.333;DP=782;ExcessHet=0.2348;FS=201.033;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=1.56;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,27:145:99:0|1:138386225_T_C:287,0,4001:138386225	8	0	2	0
chr5	138391480	138391480	G	T	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon8:c.G1848T:p.E616D	.	423	1092	7	0	0	7	0.00319489	.	.	.	721231	KDM3B-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.076	0.00658677664402	0.0035	0.00159744	0.0036	0.0008	0.0014	0	0.0017	0.0054	0.0078	0.0018	0.0035575	550	154602	rs34608821	0.0032	0.0032	0.0030	0.0034	0.0087	0.0031	0.0031	0.0068	0.0061	0.0007	0.0017	0.0218	7.557e-05	0.0008	0.0087	0.0031	0.0039	0.0024	0.0030	0.0030	0.0032	0.0028	0.0039	0.0028	0.0027	0.0035	0.0034	0.0009	0	0.0034	0.0210	0	0.0008	0.0136	0.0039	0.0033	0.0019	0.408	0.10212	T	0.54	0.09760	T	0.0	0.02946	B	0.001	0.04355	B	0.023288	0.26470	N	0.405962	0.87772	0.81001	D	0	0.06538	N	-0.05	0.63403	T	-0.99	0.26200	N	0.047	0.01911	-1.1128	0.02840	T	0.059	0.24797	T	10	0.0025058687	0.00038	T	0.006587	0.17386	T	0.076	0.22200	0.063	0.00257	0.189391138174	0.18552	0.08823589275261579	0.08756	0.515532960109	0.49461	0.400202512741	0.25096	T	0.011049	0.09905	T	-0.538587	0.00342	T	-0.546016	0.17710	T	0.0140821131484894	0.00274	T	0.782222	0.41780	T	0.042526472	0.06467	0.032971773	0.02118	0.042526472	0.06467	0.032971773	0.02117	-4.58	0.31920	T	.	.	0.067	0.02428	B	.	.	1.270536	0.16691	12.70	0.80954532508335075	0.13449	0.79868	0.39664	D	AEFGBI	0.077041	0.15514	N	-0.792638441992666	0.13500	0.6655352	-0.628984887625744	0.18749	1.002999	0.858834449411682	0.25186	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	-0.02	0.13283	0.526000	0.22680	2.679000	0.34003	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.3222:0.1072:0.43:0.1405	1.912	0.03090	388	0.83355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.05	2185.43	35	chr5	138391480	.	G	T	2185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.893;DP=483;ExcessHet=0;FS=0.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-2.144;SOR=0.786	GT:AD:DP:GQ:PL	0/1:72,88:160:99:2197,0,1779	9	0	1	0
chr5	138947265	138947265	C	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon10:c.G1238T:p.R413L,SIL1:NM_001037633:exon11:c.G1238T:p.R413L	Marinesco-Sjogren syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1983519	Marinesco-Sjögren_syndrome	MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0157876213245	.	0.000599042	9.221e-05	0.0007	8.681e-05	0	0	4.595e-05	0	0	9.06e-05	14	154602	rs138448654	1.095e-05	1.094e-05	9.533e-06	1.238e-05	0.0002	6.48e-06	5.25e-06	9.75e-05	6.95e-05	0.0002	2.236e-05	0	0	0	0	5.396e-06	1.656e-05	1.159e-05	7.879e-05	7.874e-05	7.709e-05	8.057e-05	0.0002	4.494e-05	3.51e-05	9.543e-05	6.947e-05	0.0002	0	0.0002	0	0	0	0	0	0.0005	0	0.269	0.16466	T	0.272	0.22627	T	0.006	0.19866	B	0.008	0.16862	B	0.006084	0.32280	N	0.330554	0.605106	0.32572	D	1.5	0.37844	L	0.69	0.51714	T	-2.22	0.49846	N	0.255	0.37197	-1.0451	0.15796	T	0.064	0.26349	T	10	0.020192474	0.00461	T	0.015788	0.36715	T	0.037	0.09474	.	.	0.144782658237	0.14088	0.23685197402132907	0.23600	0.294378152891	0.31862	0.236978426576	0.02525	T	0.314835	0.68649	T	-0.383472	0.02962	T	-0.472451	0.25253	T	0.0206605222593954	0.00766	T	0.785621	0.42343	T	0.19099693	0.40708	0.0959427	0.22775	0.19099693	0.40708	0.0959427	0.22774	-6.253	0.48349	T	0.12874792237830396	0.13370	0.089	0.12844	B	.;.;.	.;.;.	0.734675	0.11040	7.695	0.96452535967655784	0.29869	0.22554	0.21785	N	AEFDGBI	0.245356	0.36631	N	-0.936741752073659	0.09992	0.4754366	-0.912101632249898	0.11808	0.6038366	0.999428884523404	0.39630	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.75	-0.148	0.12767	-0.137000	0.10369	-0.100000	0.11953	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.645000	0.32557	0.1371:0.6302:0.0:0.2327	6.167	0.19611	505	0.75648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1213.43	36	chr5	138947265	.	C	A	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=1.6;SOR=0.685	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1200	9	0	1	0
chr5	139042705	139042705	G	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon5:c.C368T:p.T123I,SIL1:NM_001037633:exon6:c.C368T:p.T123I	Marinesco-Sjogren syndrome, Autosomal recessive	0	1497	24	1	0	26	0.00860927	.	.	.	101980	Marinesco-Sjögren_syndrome|SIL1-related_disorder|not_specified|not_provided	MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.251	0.022469175072	0.0063	0.00199681	0.0058	0.0021	0.0010	0	0.0017	0.0086	0.0033	0.0047	0.0058149	899	154602	rs115800498	0.0073	0.0073	0.0074	0.0072	0.0086	0.0072	0.0071	0.0084	0.0084	0.0011	0.0018	0.0013	2.519e-05	0.0019	0.0052	0.0086	0.0065	0.0053	0.0047	0.0047	0.0049	0.0046	0.0084	0.0044	0.0043	0.0078	0.0076	0.0013	0	0.0029	0.0003	0.0002	0.0006	0.0034	0.0084	0.0066	0.0050	0.032	0.72154	D	0.016	0.60972	D	0.216	0.30161	B	0.081	0.31843	B	0.099780	0.19918	N	0.530450	0.999894	0.19781	N	1.59	0.40313	L	-0.61	0.71779	T	-2.12	0.51319	N	0.282	0.32370	-0.8504	0.51940	T	0.209	0.56893	T	10	0.006200969	0.00174	T	0.022469	0.45362	T	0.251	0.56024	.	.	0.466059976078	0.46230	0.2802614282165687	0.27939	0.372858591364	0.38771	0.486942917109	0.37016	T	0.243797	0.61279	T	-0.30756	0.07964	T	-0.20517	0.54157	T	0.0149357539256162	0.00318	T	0.810819	0.46223	T	0.07017364	0.15436	0.11561561	0.27910	0.064821616	0.13792	0.11561561	0.27909	-5.027	0.37132	T	0.1939016132239977	0.25530	0.167	0.49255	B	.;.;.;.;.	.;.;.;.;.	2.571939	0.33327	19.31	0.99189030372839704	0.54906	0.78831	0.38954	D	AEFDBI	0.237679	0.35993	N	-0.166597482616396	0.34531	1.972092	-0.0870876997230101	0.35923	2.084157	0.00847338030882632	0.11683	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	4.97	3.16	0.35406	1.608000	0.36458	5.819000	0.50068	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.986000	0.61781	0.0:0.3675:0.6325:0.0	11.833	0.51579	602	0.67834	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.015152	0.05	1716.43	35	chr5	139042705	.	G	A	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=472;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.527;SOR=0.631	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1296	9	0	1	0
chr5	139121137	139121137	T	G	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon3:c.A142C:p.T48P,SIL1:NM_001037633:exon4:c.A142C:p.T48P	Marinesco-Sjogren syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	443688	not_provided|Marinesco-Sjögren_syndrome	MedGen:C3661900|MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0174898456188	0.0002	0.000199681	4.118e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs185697854	7.525e-06	7.525e-06	6.806e-06	8.25e-06	0.0002	4.04e-06	2.95e-06	0.0001	8.675e-05	0.0002	0	0	0	0	0	0	4.967e-05	0	9.848e-05	9.842e-05	0.0002	2.686e-05	0.0003	6.002e-05	4.876e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	0	0	0.0002	0.123	0.37118	T	0.347	0.32144	T	0.891	0.49025	P	0.372	0.43610	B	0.240710	0.15717	N	0.615629	1	0.08975	N	1.39	0.34934	L	-0.52	0.70717	T	-1.43	0.35194	N	0.129	0.12341	-0.9627	0.38664	T	0.183	0.53057	T	10	0.06568906	0.08901	T	0.01749	0.39209	T	0.157	0.40909	.	.	0.508455578974	0.50483	0.14762871186872856	0.14684	0.305525369266	0.32858	0.280414402485	0.07549	T	0.220948	0.58438	T	-0.273598	0.11358	T	-0.276748	0.47137	T	0.0927438139915466	0.11539	T	0.661134	0.27033	T	0.1544273	0.34954	0.1968136	0.43431	0.1544273	0.34954	0.1968136	0.43430	-3.154	0.11927	T	.	.	0.062	0.04198	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.984684	0.25217	16.68	0.9910373815000123	0.52546	0.16058	0.19211	N	AEFDBI	0.190058	0.31730	N	-0.200447115095213	0.33116	1.875183	-0.208878898774958	0.31215	1.764567	0.977516100742291	0.29829	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.19	2.72	0.31179	1.028000	0.29734	-0.240000	0.10600	0.665000	0.62972	0.720000	0.28821	0.000000	0.08366	0.996000	0.76049	0.0:0.0871:0.1695:0.7434	6.120	0.19367	643	0.63827	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	799.43	38	chr5	139121137	.	T	G	799.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.759;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=1.54;SOR=0.577	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,110,1128	9	0	1	0
chr5	139319033	139319033	-	AAACCTGAAGGAAAGCCAGATCA	exonic	MATR3	.	frameshift insertion	MATR3:NM_001194956:exon7:c.570_571insAAACCTGAAGGAAAGCCAGATCA:p.K199Nfs*19,MATR3:NM_001194955:exon8:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19,MATR3:NM_018834:exon8:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19,MATR3:NM_001194954:exon10:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19,MATR3:NM_001282278:exon10:c.420_421insAAACCTGAAGGAAAGCCAGATCA:p.K149Nfs*19,MATR3:NM_199189:exon11:c.1434_1435insAAACCTGAAGGAAAGCCAGATCA:p.K487Nfs*19	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.573e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	249.39	29	chr5	139319033	.	G	GAAACCTGAAGGAAAGCCAGATCA	249.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=256;ExcessHet=0;FS=20.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.78;MQRankSum=-5.192;QD=8.6;ReadPosRankSum=-2.002;SOR=2.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:57:.:.:0,57,855:.	9	0	1	0
chr5	139319035	139319035	T	A	splicing	MATR3	NM_001282278:exon10:c.420+2T>A;NM_001194954:exon10:c.1434+2T>A;NM_199189:exon11:c.1434+2T>A;NM_018834:exon8:c.1434+2T>A;NM_001194956:exon7:c.570+2T>A;NM_001194955:exon8:c.1434+2T>A	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	25	1496	1	0	0	1	0.000334113	0.9999	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.572e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.82221	D	0.179937	0.81993	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.784273	0.93538	33	0.98588189545455251	0.43336	0.97381	0.74389	D	AEFBI	.	.	.	0.987332639134437	0.95341	13.529	0.810502769161421	0.90515	10.44219	0.999999999664526	0.74766	0.115753	0.02995	0	0.12628	0.03447	0	0.17184	0.04098	0	0.195515	0.04268	0	0.97511	0.77948	5.56	5.56	0.83678	5.904000	0.69623	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:0.0:0.0:1.0	15.715	0.77425	619	0.66147	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	249.44	29	chr5	139319035	.	T	A	249.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=250;ExcessHet=0;FS=20.134;InbreedingCoeff=-0.0533;MLEAC=1;MLEAF=0.05;MQ=55.78;MQRankSum=-5.192;QD=8.6;ReadPosRankSum=-1.942;SOR=2.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:57:.:.:0,57,855:.	9	0	1	0
chr5	139397093	139397094	TC	-	exonic	SPATA24	.	stopgain	SPATA24:NM_194296:exon5:c.435_436del:p.N146*	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0002	0	0.0005	3.88e-05	6	154602	rs750385001	9.502e-05	9.098e-05	8.741e-05	0.0001	0.0033	8.171e-05	7.629e-05	0.0022	0.0018	0.0003	8.402e-05	0.0002	0	0	0.0033	5.931e-05	0.0003	0.0002	5.256e-05	5.253e-05	1.285e-05	9.413e-05	0.0002	2.557e-05	1.83e-05	1.171e-05	6.25e-06	4.824e-05	0.0011	0	0	0	0	0.0032	4.411e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002193	0.000000	0.000000	0.004167	0.000000	0.000000	0.000000	0.000000	0.05	1108.39	40	chr5	139397092	.	TTC	T	1108.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.747;DP=419;ExcessHet=0;FS=3.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.054;SOR=0.898	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr5	139403969	139403969	T	G	exonic	SPATA24	.	nonsynonymous SNV	SPATA24:NM_194296:exon1:c.A92C:p.E31A	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0043922588209	.	.	9.27e-05	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs778032308	2.93e-05	2.805e-05	2.397e-05	3.477e-05	0.0005	2.179e-05	1.962e-05	0.0002	0.0001	0	0	0	2.798e-05	0	0.0005	8.341e-06	0.0001	0.0003	6.576e-06	6.569e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.031	0.45039	D	0.287	0.46182	T	0.987	0.61912	D	0.851	0.60700	P	0.003533	0.34820	N	0.131624	0.614744	0.30830	N	0.55	0.14455	N	.	.	.	-2.48	0.59545	N	0.196	0.31702	-1.0007	0.29717	T	0.064	0.26562	T	9	0.10031772	0.18260	T	0.004392	0.10718	T	0.110	0.31079	0.207	0.12356	0.0666544352282	0.05500	.	.	.	.	0.535505473614	0.43810	T	0.035066	0.25476	T	-0.200099	0.20791	T	-0.222076	0.52536	T	0.139776254944484	0.16255	T	0.743426	0.36288	T	0.23883681	0.46767	0.29538372	0.55570	0.23883681	0.46767	0.29538372	0.55569	-3.456	0.15821	T	.	.	0.192	0.42834	B	.;.;.;.;.	.;.;.;.;.	3.397046	0.47056	22.4	0.99640125953546088	0.76633	0.15932	0.19150	N	ALL	0.260371	0.37853	N	0.025317407114503	0.43008	2.602301	0.151262671789278	0.47208	2.954603	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.18	5.18	0.71140	1.888000	0.39342	5.008000	0.46647	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	11.344	0.48791	614	0.66605	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001931	0.005208	0.000000	0.000000	0.000000	0.000000	0.004902	0.000000	0.05	2544.43	34	chr5	139403969	.	T	G	2544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=532;ExcessHet=0;FS=2.445;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.5;SOR=0.901	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	9	0	1	0
chr5	139472851	139472851	C	T	exonic	SMIM33	.	nonsynonymous SNV	SMIM33:NM_001365197:exon2:c.C329T:p.P110L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08840978	0.15221	T	.	.	.	.	.	.	.	.	.	0.02551528938741013	0.02502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444256	0.12390	T	0.038910557	0.05273	0.07777455	0.17359	0.038910557	0.05272	0.07777455	0.17358	-4.222	0.27069	T	.	.	0.081	0.08176	B	.	.	0.234513	0.06155	2.601	0.66634596817508418	0.08117	0.04663	0.10339	N	AEFBCI	0.049118	0.08454	N	.	.	.	.	.	.	0.999770990980299	0.42865	0.428477	0.06694	0	0.547309	0.14657	0	0.468601	0.07175	0	0.635259	0.50027	0	.	.	4.96	2.12	0.26372	-0.045000	0.11957	0.074000	0.14299	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.6938:0.0:0.3062	6.966	0.23802	248	0.90287	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	37.23	1	chr5	139472851	.	C	T	37.23	.	AC=2;AF=0.143;AN=14;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=18.61;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	6	1	0	3
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	828.45	73	chr5	139887481	.	C	T	828.45	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.427;DP=978;ExcessHet=0.7463;FS=254.507;InbreedingCoeff=-0.2159;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.58;SOR=9.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,40:133:99:0|1:139887481_C_T:451,0,2728:139887481	6	0	3	1
chr5	140042972	140042972	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon1:c.G98A:p.S33N,NRG2:NM_004883:exon1:c.G98A:p.S33N,NRG2:NM_013981:exon1:c.G98A:p.S33N,NRG2:NM_013982:exon1:c.G98A:p.S33N,NRG2:NM_013983:exon1:c.G98A:p.S33N	.	404	1109	8	0	1	9	0.00359389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.592067125988	.	0.000798722	0.0025	0	0.0072	0	0	0.0047	0	0.0011	0.000912	141	154602	rs545945148	0.0020	0.0020	0.0021	0.0019	0.0046	0.0019	0.0019	0.0031	0.0027	0.0004	0.0016	0.0011	0	0.0005	0.0046	0.0023	0.0019	0.0008	0.0015	0.0015	0.0016	0.0015	0.0028	0.0014	0.0013	0.0025	0.0024	0.0005	0	0.0005	0.0006	0	0.0002	0.0137	0.0028	0.0014	0.0004	0.006	0.61437	D	0.231	0.46862	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.998216	0.22287	N	0	0.06538	N	-1.2	0.78537	T	-0.34	0.13226	N	0.282	0.44666	-0.9628	0.38645	T	0.182	0.52934	T	9	0.0074237287	0.00169	T	0.592067	0.96380	D	0.168	0.42943	.	.	0.674271225012	0.67151	0.042334487245033775	0.04178	0.738883210993	0.63125	0.70426940918	0.67761	T	0.198508	0.55551	T	-0.0993076	0.36540	T	-0.380425	0.35672	T	0.0246889617220249	0.01233	T	0.713829	0.32570	T	0.12335766	0.28967	0.23743413	0.49040	0.12335766	0.28967	0.23743413	0.49039	-6.854	0.53033	T	.	.	0.143	0.31583	B	.;.;.;.;.	.;.;.;.;.	2.281318	0.29170	18.04	0.94571245144277283	0.25104	0.05671	0.11587	N	ALL	0.060884	0.11602	N	-0.945632618069172	0.09791	0.4649574	-0.913911390581343	0.11765	0.6014047	0.9999997434968	0.74766	0.437478	0.07067	0	0.484254	0.07192	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.59	-0.475	0.11501	0.468000	0.21763	.	.	0.298000	0.18894	0.024000	0.20007	1.000000	0.68203	0.319000	0.24947	0.0:0.5666:0.1537:0.2798	5.306	0.15110	44	0.97806	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004663	0.000000	0.006983	0.002959	0.000000	0.000000	0.006452	0.000000	0.05	681.43	27	chr5	140042972	.	C	T	681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.722;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.88;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	9	0	1	0
chr5	140360317	140360317	C	G	exonic	SLC4A9	.	nonsynonymous SNV	SLC4A9:NM_001258426:exon1:c.C81G:p.S27R,SLC4A9:NM_001258427:exon1:c.C81G:p.S27R,SLC4A9:NM_001258428:exon1:c.C81G:p.S27R,SLC4A9:NM_031467:exon1:c.C81G:p.S27R	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0103275213927	.	.	7.901e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs765949112	1.301e-05	1.3e-05	1.226e-05	1.377e-05	0.0002	8.32e-06	6.71e-06	8.11e-06	6.43e-06	0	0	0	0	0	0.0002	1.35e-05	1.658e-05	2.332e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.111	0.38450	T	0.874	0.48047	P	0.466	0.46637	P	0.007225	0.01159	N	3.231360	1	0.08975	N	1.28	0.32218	L	-1.22	0.81399	T	-0.91	0.24898	N	0.159	0.18239	-0.6402	0.63137	T	0.336	0.70256	T	10	0.09051636	0.15776	T	0.010328	0.26741	T	0.311	0.63269	0.147	0.05039	0.466059976078	0.46230	0.266010349262904	0.26514	.	.	0.330199480057	0.14965	T	0.126405	0.45276	T	-0.211804	0.19125	T	-0.349683	0.39240	T	0.202151775360107	0.20534	T	0.541246	0.18358	T	0.3246632	0.55030	0.25761533	0.51481	0.3246632	0.55030	0.25761533	0.51480	-4.211	0.27584	T	.	.	0.130	0.33891	B	.;.;.;.	.;.;.;.	0.860931	0.12332	8.873	0.9820884803896891	0.39193	0.03018	0.07894	N	AEFDHI	0.051080	0.08989	N	-1.1917251824511	0.05124	0.2328723	-1.36339669100064	0.03650	0.1707241	0.999852710224996	0.44174	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.66	-4.94	0.02830	-0.756000	0.04882	.	.	-0.445000	0.05159	0.000000	0.06391	0.001000	0.17328	0.030000	0.13115	0.0:0.7128:0.0:0.2872	13.470	0.60731	180	0.92993	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1050.43	34	chr5	140360317	.	C	G	1050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.58;DP=387;ExcessHet=0;FS=4.248;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.106;SOR=0.542	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	9	0	1	0
chr5	140557163	140557163	C	A	exonic	SRA1	.	nonsynonymous SNV	SRA1:NM_001253764:exon1:c.G290T:p.R97M,SRA1:NM_001035235:exon2:c.G135T:p.Q45H	.	433	1086	2	1	0	4	0.00183824	.	.	.	2384396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.147	0.0656500090262	.	.	0.0001	0	0	0	0	0	0.0012	0.0008	8.41e-05	13	154602	rs751585477	5.564e-05	5.814e-05	3.008e-05	8.146e-05	0.0010	4.562e-05	4.173e-05	0.0007	0.0006	0	0	0	0	0	0.0010	9.018e-07	4.998e-05	0.0008	3.34e-05	3.321e-05	1.306e-05	5.473e-05	0.0011	1.277e-05	8.1e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	0.022	0.48642	D	0.123	0.35582	T	0.989	0.62824	D	0.788	0.57636	P	0.162101	0.17632	U	0.520293	0.905606	0.81001	D	.	.	.	0.8	0.48769	T	-2.33	0.51646	N	0.52	0.55019	-0.7843	0.56059	T	0.224	0.58805	T	9	0.24160486	0.41341	T	0.06565	0.69643	D	0.147	0.38986	0.278	0.23164	0.703487672049	0.70091	0.32698463397678307	0.32611	0.149293114294	0.16836	.	.	.	0.13389	0.46482	T	-0.410688	0.01966	T	-0.421893	0.30857	T	0.652349829673767	0.38563	D	0.708429	0.31914	T	0.20490906	0.42616	0.12997276	0.31240	0.20490906	0.42616	0.12997276	0.31239	-4.976	0.36579	T	.	.	0.286	0.51832	B	.	.	3.524067	0.49411	22.8	0.99729706904872373	0.82690	0.87436	0.46975	D	AEFDBHCI	0.436051	0.49644	N	0.48008543417109	0.65929	4.884636	0.486766823633906	0.67112	5.040648	0.999999999593883	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	5.53	5.53	0.82530	0.402000	0.20690	.	.	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.962000	0.52141	0.0:1.0:0.0:0.0	16.389	0.83361	213	0.91726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	465.43	39	chr5	140557163	.	C	A	465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.753;DP=375;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.057;SOR=1.075	GT:AD:DP:GQ:PL	0/1:26,19:45:99:477,0,728	9	0	1	0
chr5	140567437	140567437	G	A	exonic	SLC35A4	.	nonsynonymous SNV	SLC35A4:NM_080670:exon3:c.G268A:p.A90T	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.236988062193	.	0.000399361	0.0002	0	8.654e-05	0	0	1.522e-05	0	0.0016	0.0002005	31	154602	rs200911252	0.0001	0.0001	6.807e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	6.708e-05	0	5.038e-05	0	0.0005	6.295e-06	8.279e-05	0.0019	0.0001	0.0001	7.708e-05	0.0001	0.0021	6.506e-05	5.318e-05	0.0011	0.0009	0	0	0.0003	0	0	0	0	2.941e-05	0	0.0021	0.016	0.51853	D	0.016	0.60972	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.23	0.89537	M	-0.49	0.70365	T	-1.93	0.44852	N	0.882	0.88027	-0.0063	0.82125	T	0.525	0.82292	D	9	0.50418514	0.61722	D	0.236988	0.88524	D	0.574	0.82742	0.781	0.90541	0.388334884743	0.38444	0.40592772250528275	0.40508	0.51955048213	0.49782	0.690156757832	0.65729	T	0.383397	0.74526	T	-0.0743692	0.40628	T	0.113613	0.77811	D	0.275490109640961	0.23981	T	0.761424	0.38629	T	0.20405397	0.42503	0.22869042	0.47918	0.20405397	0.42502	0.22869042	0.47917	-6.215	0.48044	T	.	.	0.258	0.50138	B	.;.;.	.;.;.	3.965692	0.58200	23.9	0.99917029430400872	0.98449	0.98985	0.89557	D	AEFDBHCI	0.945871	0.95467	D	0.692336977443233	0.79129	7.013196	0.639136345609838	0.77805	6.750482	0.999999999999994	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	9.328000	0.96407	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	0.0:0.0:1.0:0.0	18.136	0.89550	218	0.91525	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1398.43	34	chr5	140567437	.	G	A	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=485;ExcessHet=0;FS=1.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=0.257;SOR=0.838	GT:AD:DP:GQ:PL	0/1:103,65:168:99:1410,0,2350	9	0	1	0
chr5	140671309	140671309	G	C	exonic	DND1	.	nonsynonymous SNV	DND1:NM_194249:exon4:c.C1046G:p.T349S	.	403	1044	75	0	0	75	0.0346741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00299662886539	.	.	0.0003	0.0001	0	0	0	0.0005	0	0	0.0002135	33	154602	rs201638404	2.076e-05	0.0028	1.515e-05	2.644e-05	0.0019	1.473e-05	1.278e-05	0.0010	0.0008	0	0	3.843e-05	0	9.62e-05	0.0019	9.11e-06	0	4.646e-05	6.594e-06	0.0002	1.289e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	0.218	0.19090	T	0.063	0.45110	T	0.0	0.02946	B	0.001	0.04355	B	0.987573	0.07881	N	1.006470	1	0.08975	N	0.695	0.17993	N	1.54	0.30133	T	-0.59	0.17624	N	0.037	0.01135	-1.0009	0.29660	T	0.040	0.17362	T	10	0.034810185	0.01704	T	0.002997	0.06427	T	0.029	0.06676	0.1	0.01484	0.161926535498	0.15789	0.40438706048263123	0.40354	0.637984465512	0.57542	0.34559237957	0.17271	T	0.102753	0.41077	T	-0.360183	0.04119	T	-0.755154	0.03289	T	0.0211142783198718	0.00813	T	0.279972	0.04873	T	0.042993844	0.06623	0.025890457	0.00652	0.042993844	0.06622	0.025890457	0.00652	-2.879	0.08935	T	.	.	0.074	0.05017	B	.	.	1.151131	0.15394	11.82	0.72799346766082673	0.10100	0.21105	0.21283	N	AEFDGBCI	0.089470	0.18134	N	-0.982930631239168	0.08968	0.4225575	-0.985513379254524	0.10110	0.5071382	0.999349824977441	0.39222	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	4.97	0.117	0.13957	0.698000	0.25249	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.697000	0.34049	0.3271:0.0:0.5115:0.1614	3.914	0.08714	176	0.93188	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	33	chr5	140671309	.	G	C	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=404;ExcessHet=0;FS=19.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.58;MQRankSum=-7.689;QD=0.5;ReadPosRankSum=-3.56;SOR=4.093	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	9	0	1	0
chr5	140795407	140795407	T	C	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.T443C:p.L148P,PCDHA2:NM_031495:exon1:c.T443C:p.L148P,PCDHA2:NM_031496:exon1:c.T443C:p.L148P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00325067110374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.05309	T	0.93	0.02777	T	0.001	0.12183	B	0.006	0.24676	B	0.208510	0.16423	N	0.291029	1	0.08975	N	-0.71	0.01811	N	2.2	0.18570	T	-0.35	0.12847	N	0.091	0.08925	-0.9474	0.41414	T	0.017	0.07187	T	10	0.048393816	0.04283	T	0.003251	0.07177	T	0.059	0.16972	0.553	0.66995	0.318828661733	0.31499	0.15311052001546874	0.15233	.	.	.	.	.	0.003266	0.02667	T	-0.315528	0.07271	T	-0.69101	0.06330	T	0.047776110470295	0.05103	T	0.666133	0.28883	T	0.044305272	0.07060	0.08597995	0.19889	0.044305272	0.07060	0.08597995	0.19888	-5.204	0.39874	T	.	.	0.052	0.00309	B	.;.;.	.;.;.	1.693171	0.21574	15.26	0.68757721557408413	0.08757	0.03939	0.09336	N	AEFDBHCI	0.128187	0.24586	N	-1.16248309724686	0.05577	0.2546209	-1.0840422663971	0.08014	0.3922364	0.730345896883492	0.23037	0.525926	0.21836	0	0.615948	0.52940	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.81	2.62	0.30337	-0.615000	0.05693	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.0:0.3231:0.0:0.6769	6.313	0.20384	18	0.98631	.;.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4064.43	276	chr5	140795407	.	T	C	4064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.982;DP=750;ExcessHet=0;FS=3.344;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.942;SOR=0.908	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr5	140796576	140796576	C	T	exonic	PCDHA2	.	nonsynonymous SNV	PCDHA2:NM_018905:exon1:c.C1612T:p.R538W,PCDHA2:NM_031495:exon1:c.C1612T:p.R538W,PCDHA2:NM_031496:exon1:c.C1612T:p.R538W	.	403	1117	2	0	0	2	0.000894454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0452488896605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.476e-06	5.472e-06	8.173e-06	2.751e-06	5.396e-06	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.001364	0.39242	U	0.000000	1	0.81001	D	3.095	0.87515	M	0.55	0.54728	T	-7.46	0.94928	D	0.545	0.57177	-0.7275	0.59089	T	0.296	0.66754	T	10	0.6718499	0.70760	D	0.045249	0.61887	D	0.280	0.59740	0.632	0.76810	0.844041732929	0.84254	0.45377438302804834	0.45295	.	.	.	.	.	0.172485	0.52100	T	0.109289	0.65279	D	-0.0807899	0.64846	T	0.995058655738831	0.86751	D	0.937806	0.80045	D	0.52044386	0.68285	0.37292874	0.62491	0.52044386	0.68286	0.37292874	0.62490	-10.344	0.76294	D	.	.	0.137	0.30920	B	.;.;.	.;.;.	3.022628	0.40463	21.2	0.99870437982886673	0.94815	0.25445	0.22701	N	AEFGBI	0.308418	0.41501	N	0.166225215005715	0.49583	3.157053	0.0147241742760962	0.40397	2.410267	0.0235615067605275	0.13516	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.88	2.99	0.33673	-0.020000	0.12466	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.635000	0.32288	0.4716:0.5284:0.0:0.0	10.999	0.46810	18	0.98631	.;.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5218.43	38	chr5	140796576	.	C	T	5218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.495;DP=730;ExcessHet=0;FS=2.921;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.19;QD=14.87;ReadPosRankSum=1.07;SOR=0.862	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr5	140803137	140803137	T	C	exonic	PCDHA3	.	nonsynonymous SNV	PCDHA3:NM_018906:exon1:c.T1940C:p.L647P,PCDHA3:NM_031497:exon1:c.T1940C:p.L647P	.	427	1089	6	0	0	6	0.00274725	.	.	.	3212710	PCDHA3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.523	0.243787462749	0.0009	0.000998403	0.0010	9.709e-05	0.0023	0	0	0.0010	0.0022	0.0011	0.0008861	137	154602	rs149374718	0.0006	0.0006	0.0006	0.0007	0.0088	0.0006	0.0006	0.0069	0.0062	0.0006	0.0021	0.0029	0	5.638e-05	0.0088	0.0004	0.0014	0.0008	0.0006	0.0006	0.0007	0.0005	0.0020	0.0005	0.0005	0.0014	0.0012	9.619e-05	0.0022	0.0020	0.0023	0	0	0.0034	0.0005	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	0.014402	0.28541	U	0.000000	1	0.81001	D	4.18	0.97724	H	0.26	0.59314	T	-6.37	0.92042	D	0.863	0.88137	0.423	0.89444	D	0.497	0.80941	T	10	0.13322487	0.25357	T	0.243787	0.88816	D	0.523	0.79765	.	.	0.909870636381	0.90897	0.8673886149845436	0.86703	.	.	.	.	.	0.43011	0.77868	T	-0.0107486	0.50162	T	0.206236	0.83467	D	0.252943754196167	0.23004	T	0.939406	0.78031	D	0.93062454	0.94300	0.9138477	0.95962	0.93062454	0.94300	0.9138477	0.95963	-11.766	0.83692	D	.	.	0.914	0.85022	P	.;.	.;.	3.377705	0.46710	22.3	0.99751819565832711	0.84305	0.99214	0.92914	D	AEFBI	0.914545	0.87806	D	0.788223455836083	0.85362	8.553761	0.593143958142618	0.74444	6.138645	0.999998610390679	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	5.783000	0.68630	.	.	0.605000	0.46263	0.976000	0.34826	0.962000	0.29361	0.049000	0.15107	0.0:0.0:0.0:1.0	13.767	0.62488	18	0.98631	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.009511	0.005848	0.050000	0.000000	0.003049	0.000000	0.05	3760.43	156	chr5	140803137	.	T	C	3760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=1498;ExcessHet=0;FS=1.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-0.452;SOR=0.692	GT:AD:DP:GQ:PL	0/0:147,0:147:99:0,120,1800	9	0	1	0
chr5	140807559	140807559	G	C	exonic	PCDHA4	.	nonsynonymous SNV	PCDHA4:NM_018907:exon1:c.G372C:p.R124S,PCDHA4:NM_031500:exon1:c.G372C:p.R124S	.	.	.	.	.	.	.	.	.	.	.	3578758	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00915682147493	0.0004	.	5.767e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs150847383	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0003	4.96e-06	3.82e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	0	3.312e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.55e-05	0	0	0	0	0	0	0.0002	0.235	0.18000	T	0.197	0.29249	T	0.224	0.30397	B	0.17	0.35299	B	0.082930	0.20781	U	0.335126	1	0.81001	D	1.485	0.37223	L	0.8	0.49919	T	-2.87	0.60348	D	0.079	0.11769	-1.0240	0.22410	T	0.081	0.31943	T	10	0.09467769	0.16853	T	0.009157	0.24083	T	0.019	0.03383	0.356	0.35734	0.533227312814	0.52972	0.3335826257798778	0.33271	.	.	.	.	.	0.207986	0.56778	T	-0.484535	0.00696	T	-0.569614	0.15484	T	0.0779756950118405	0.09725	T	0.717028	0.33902	T	0.20470421	0.42589	0.15301119	0.35975	0.20470421	0.42589	0.15301119	0.35974	-10.024	0.75519	D	.	.	0.274	0.50754	B	.;.;.;.	.;.;.;.	3.202466	0.43554	21.8	0.94121564315305073	0.24299	0.28290	0.23513	N	AEFDGBHCI	0.302378	0.41064	N	-0.531391483008145	0.21071	1.115557	-0.467475471322351	0.23055	1.255363	0.999964057163875	0.48965	0.525926	0.21836	0	0.615948	0.52940	0	0.504199	0.09095	0	0.554799	0.18163	0	.	.	4.62	2.7	0.31007	-0.963000	0.03947	.	.	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.671000	0.33280	0.0832:0.1531:0.6252:0.1386	5.417	0.15679	20	0.98525	Cadherin-like;.;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3066.43	221	chr5	140807559	.	G	C	3066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.202;DP=1576;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.89;MQRankSum=-4.758;QD=11.15;ReadPosRankSum=0.649;SOR=0.716	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	9	0	1	0
chr5	140822136	140822136	G	A	exonic	PCDHA5	.	nonsynonymous SNV	PCDHA5:NM_018908:exon1:c.G361A:p.A121T,PCDHA5:NM_031501:exon1:c.G361A:p.A121T	.	.	.	.	.	.	.	.	.	.	.	3578766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0204591368216	0.0004	.	5.767e-05	0.0007	0	0	0	0	0	0	4.53e-05	7	154602	rs143698188	8.893e-06	8.893e-06	1.225e-05	5.5e-06	0.0003	4.96e-06	3.82e-06	0.0002	0.0001	0.0003	2.236e-05	0	0	0	0	0	3.311e-05	0	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.542e-05	0	0	0	0	0	0	0.0002	0.016	0.51853	D	0.039	0.57587	D	0.152	0.31898	B	0.085	0.39564	B	.	.	.	.	1	0.81001	D	-0.1	0.04694	N	1.28	0.35960	T	0.02	0.06739	N	0.117	0.23253	-0.9951	0.31272	T	0.050	0.21182	T	9	0.05954376	0.07173	T	0.020459	0.43059	T	0.137	0.36984	.	.	0.412328234245	0.40847	0.09319102768630674	0.09251	0.341023581507	0.36037	.	.	.	0.001361	0.00832	T	-0.433618	0.01410	T	-0.496476	0.22713	T	0.149927678941755	0.17098	T	0.950405	0.81010	D	0.08447173	0.19552	0.16658649	0.38477	0.08447173	0.19551	0.16658649	0.38476	-4.919	0.36666	T	.	.	0.077	0.06341	B	.;.;.	.;.;.	4.209376	0.63584	24.6	0.99782307472267417	0.86867	0.97927	0.78187	D	AEFDGBHCI	0.824788	0.74461	D	-0.144142571455081	0.35485	2.038793	0.0357894213744973	0.41391	2.485838	0.999998074475908	0.74766	0.62174	0.39705	0	0.615948	0.52940	0	0.491614	0.08109	1	0.691587	0.68394	0	.	.	4.01	4.01	0.45821	5.611000	0.67355	.	.	0.618000	0.50648	1.000000	0.71638	0.226000	0.23749	0.855000	0.40485	0.0881:0.0:0.9119:0.0	12.121	0.53192	28	0.98252	.;.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2934.43	120	chr5	140822136	.	G	A	2934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=908;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.299;QD=13.28;ReadPosRankSum=-1.468;SOR=0.63	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	9	0	1	0
chr5	140834716	140834716	A	C	exonic	PCDHA7	.	nonsynonymous SNV	PCDHA7:NM_018910:exon1:c.A333C:p.E111D,PCDHA7:NM_031852:exon1:c.A333C:p.E111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00808518470642	.	0.000998403	0.0005	0.0010	0.0002	0.0028	0.0011	0.0001	0	0.0002	0.0002305	6	26028	rs17844306	0.0003	0.0003	0.0003	0.0003	0.0064	0.0003	0.0003	0.0058	0.0055	0.0006	0.0002	0	0.0064	0.0008	0.0003	6.655e-05	0.0002	0.0002	0.0005	0.0006	0.0006	0.0005	0.0025	0.0004	0.0004	0.0015	0.0012	0.0010	0	0.0003	0	0.0025	0.0014	0	5.88e-05	0	0.0002	1.0	0.00964	T	1.0	0.03817	T	0.002	0.09854	B	0.035	0.22741	B	0.142694	0.18235	U	0.275715	1	0.81001	D	0.3	0.10203	N	1.37	0.34253	T	3.09	0.00129	N	0.067	0.05542	-0.9943	0.31485	T	0.032	0.13854	T	10	0.007409215	0.00168	T	0.008085	0.21418	T	0.031	0.07369	0.609	0.74182	0.269111216191	0.26524	0.4719633305995994	0.47115	.	.	.	.	.	0.002623	0.02014	T	-0.350771	0.04679	T	-0.741635	0.03822	T	0.00281180065286544	0.00029	T	0.517348	0.16736	T	0.053275935	0.10058	0.040319305	0.04329	0.053275935	0.10058	0.040319305	0.04329	-1.893	0.02801	T	.	.	0.067	0.02548	B	.;.	.;.	0.242787	0.06227	2.681	0.68759573712932553	0.08758	0.03054	0.07954	N	AEFDBCI	0.055780	0.10258	N	-1.20681426612539	0.04899	0.2221259	-1.09828847557308	0.07734	0.3773797	0.0135509858347515	0.12479	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.638833	0.57524	0	.	.	3.99	0.959	0.18747	-1.374000	0.02672	.	.	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.1331:0.329:0.3892:0.1487	3.26	0.06441	31	0.98186	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2139.43	35	chr5	140834716	.	A	C	2139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=690;ExcessHet=0;FS=19.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.57;MQRankSum=-11.27;QD=5.96;ReadPosRankSum=2.6;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	9	0	1	0
chr5	140871191	140871191	C	A	exonic	PCDHA11	.	nonsynonymous SNV	PCDHA11:NM_018902:exon1:c.C2088A:p.N696K,PCDHA11:NM_031861:exon1:c.C2088A:p.N696K	.	.	.	.	.	.	.	.	.	.	.	3578695	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.247	0.148848918108	0.0003	.	4.187e-05	0.0005	0	0	0	0	0	0	3.23e-05	5	154602	rs370303558	8.212e-06	8.209e-06	1.089e-05	5.502e-06	0.0003	4.38e-06	3.46e-06	0.0001	0.0001	0.0003	2.236e-05	0	0	0	0	0	3.312e-05	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	6.539e-05	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.004	0.74150	D	0.998	0.77913	D	0.971	0.72444	D	.	.	.	.	1	0.81001	D	3.36	0.91202	M	0.71	0.51228	T	-5.71	0.87457	D	0.528	0.59393	-0.6411	0.63099	T	0.372	0.73114	T	9	0.5178955	0.62472	D	0.148849	0.83073	D	0.247	0.55478	0.663	0.80098	0.819273391136	0.81756	0.5451039524438808	0.54436	0.740897167152	0.63259	.	.	.	0.047301	0.27682	T	-0.313798	0.07417	T	-0.343588	0.39939	T	0.843801081180573	0.49640	D	0.957004	0.83719	D	0.4444956	0.63691	0.53672653	0.73229	0.4444956	0.63691	0.53672653	0.73229	-10.195	0.76103	D	.	.	0.694	0.72721	P	.;.	.;.	2.490428	0.32130	18.95	0.99795878725834242	0.88106	0.32776	0.24668	N	AEFDGBCI	0.410242	0.48120	N	0.338663956850538	0.58145	3.985004	0.147706674999572	0.47021	2.938677	0.190273708619927	0.17990	0.553676	0.25195	0	0.588015	0.36545	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	4.75	2.94	0.33188	-0.558000	0.06069	.	.	-0.812000	0.03057	0.000000	0.06391	0.000000	0.08366	0.568000	0.30603	0.0:0.6711:0.0:0.3289	7.955	0.29199	51	0.97631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1841.43	39	chr5	140871191	.	C	A	1841.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=571;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-1.222;SOR=0.78	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr5	140877285	140877285	G	T	exonic	PCDHA12	.	nonsynonymous SNV	PCDHA12:NM_018903:exon1:c.G1813T:p.A605S,PCDHA12:NM_031864:exon1:c.G1813T:p.A605S	.	417	1073	31	1	0	33	0.0151446	.	.	.	2825288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.276	0.0197981711577	0.0036	0.00279553	0.0040	0.0006	0.0010	0.0001	0.0020	0.0054	0.0033	0.0055	0.0041073	635	154602	rs76220347	0.0047	0.0047	0.0045	0.0049	0.0073	0.0046	0.0046	0.0056	0.0049	0.0007	0.0018	0.0087	2.519e-05	0.0016	0.0073	0.0051	0.0043	0.0054	0.0036	0.0036	0.0038	0.0034	0.0057	0.0033	0.0032	0.0052	0.0051	0.0006	0	0.0035	0.0086	0	0.0019	0.0034	0.0057	0.0033	0.0041	0.028	0.46129	D	0.052	0.47581	T	1.0	0.90584	D	0.954	0.78396	D	.	.	.	.	1	0.81001	D	1.64	0.41913	L	1.18	0.37746	T	-2.72	0.57920	D	0.213	0.25989	-0.7210	0.59414	T	0.168	0.50794	T	9	0.012135804	0.00262	T	0.019798	0.42253	T	0.276	0.59253	.	.	0.734974895143	0.73260	0.2244262043726725	0.22357	.	.	0.780401825905	0.78988	T	0.077468	0.35662	T	-0.437357	0.01340	T	-0.39909	0.33490	T	0.0216165376161506	0.00866	T	0.855914	0.55285	D	0.23279963	0.46074	0.28168145	0.54151	0.23279963	0.46074	0.28168145	0.54150	-9.022	0.69146	D	.	.	0.160	0.35310	B	.;.	.;.	3.454221	0.48119	22.6	0.99504588519091897	0.68264	0.97990	0.78686	D	AEFDBI	0.708097	0.66262	D	0.558929894263973	0.70627	5.529476	0.493415732069027	0.67551	5.099412	0.999999998772093	0.74766	0.475244	0.09938	2	0.588015	0.36545	0	0.641878	0.46077	1	0.562822	0.20929	0	.	.	4.71	4.71	0.59010	3.147000	0.50335	.	.	0.590000	0.31872	0.998000	0.41325	0.003000	0.18671	0.787000	0.37188	0.0:0.0:1.0:0.0	17.27	0.86984	67	0.97183	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.010870	0.002924	0.000000	0.000000	0.015244	0.018939	0.05	4624.43	39	chr5	140877285	.	G	T	4624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.42;DP=711;ExcessHet=0;FS=0.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=1.2;SOR=0.754	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr5	140927687	140927687	-	G	exonic	PCDHAC1	.	frameshift insertion	PCDHAC1:NM_018898:exon1:c.796dupG:p.E267Gfs*23,PCDHAC1:NM_031882:exon1:c.796dupG:p.E267Gfs*23	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.614e-05	0.0007	0	0	0.0006	0.0011	0	0.0003946	61	154602	rs536640692	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0006	0.0002	0	0	0.0114	0.0003	0.0005	9.275e-05	0.0004	0.0004	0.0002	0.0006	0.0008	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0008	0	0	0	0.0102	0.0006	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008560	0.005051	0.009511	0.020468	0.000000	0.008621	0.003049	0.000000	0.05	1498.39	35	chr5	140927687	.	T	TG	1498.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.87;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=1.43;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	9	0	1	0
chr5	140928379	140928379	G	A	exonic	PCDHAC1	.	nonsynonymous SNV	PCDHAC1:NM_018898:exon1:c.G1487A:p.S496N,PCDHAC1:NM_031882:exon1:c.G1487A:p.S496N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	.	0.0038	0.00319489	0.0010	0.0116	0.0004	0	0	0	0	0	0.0009767	151	154602	rs140058365	0.0003	0.0003	0.0003	0.0002	0.0090	0.0003	0.0002	0.0082	0.0079	0.0090	0.0011	0	0	0	0.0002	1.079e-05	0.0006	1.159e-05	0.0033	0.0033	0.0037	0.0030	0.0113	0.0031	0.0030	0.0105	0.0102	0.0113	0	0.0015	0	0	0	0	5.88e-05	0.0047	0.0002	0.014	0.53172	D	0.008	0.67890	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	1.905	0.50856	L	0.8	0.48769	T	-2.2	0.54217	N	0.102	0.14905	-0.9425	0.42218	T	0.172	0.51341	T	9	0.007452905	0.00169	T	.	.	.	0.199	0.48268	.	.	0.758533119349	0.75634	0.07061683190025982	0.06998	0.360950350727	0.37751	.	.	.	0.265004	0.63683	T	-0.60294	0.00140	T	-0.62847	0.10531	T	0.0280702786839769	0.01699	T	0.422258	0.11242	T	0.24221635	0.47147	0.32632187	0.58540	0.24221635	0.47146	0.32632187	0.58539	-6.816	0.53210	T	.	.	0.101	0.17445	B	.;.	.;.	3.138126	0.42432	21.5	0.9903411958181253	0.50873	0.88320	0.48195	D	AEFBI	0.416980	0.48521	N	0.298310432766598	0.56064	3.770562	0.236861824119408	0.51906	3.369155	0.972126020757375	0.29344	0.582742	0.33608	0	0.547309	0.14657	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.54	2.78	0.31702	2.563000	0.45585	.	.	0.676000	0.76740	0.653000	0.28198	0.044000	0.21668	0.999000	0.91618	0.2101:0.0:0.6532:0.1366	5.734	0.17325	60	0.97424	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1070.43	102	chr5	140928379	.	G	A	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.716;DP=812;ExcessHet=0;FS=1.947;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=0;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800:.	9	0	1	0
chr5	140966821	140966821	C	A	exonic	PCDHAC2	.	nonsynonymous SNV	PCDHAC2:NM_018899:exon1:c.C55A:p.P19T,PCDHAC2:NM_031883:exon1:c.C55A:p.P19T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0303343851468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.556	0.09236	T	0.039	0.40281	B	0.025	0.35118	B	0.019163	0.27317	N	0.177990	0.994069	0.42148	D	0	0.06538	N	0.91	0.44856	T	-0.46	0.14978	N	0.21	0.23380	-1.0549	0.13066	T	0.056	0.23527	T	10	0.086581975	0.14730	T	0.030334	0.52669	D	0.043	0.11576	0.382	0.39970	0.200294437569	0.19612	0.5114013974790689	0.51062	2.0836660373	0.94653	.	.	.	0.074485	0.34948	T	-0.164977	0.25996	T	-0.474755	0.25005	T	0.401051805416502	0.28981	T	0.706729	0.33613	T	0.17995371	0.39092	0.2429262	0.49724	0.17995371	0.39091	0.2429262	0.49723	-5.552	0.42351	T	.	.	0.079	0.07130	B	.;.	.;.	2.492576	0.32161	18.96	0.99759590724772373	0.84931	0.43049	0.27013	N	AEFDBCI	0.110160	0.21854	N	-0.339230286621503	0.27670	1.519997	-0.194818145434098	0.31727	1.798218	0.999998415347879	0.74766	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	5.3	5.3	0.74745	0.077000	0.14593	.	.	0.596000	0.33519	0.000000	0.06391	1.000000	0.68203	0.283000	0.24091	0.0:0.8525:0.1475:0.0	15.575	0.76111	54	0.97570	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	597.43	49	chr5	140966821	.	C	A	597.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.582;DP=350;ExcessHet=0;FS=2.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-1.271;SOR=0.363	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,892	9	0	1	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.010870	0.008772	0.000000	0.017241	0.024390	0.015152	0.05	4688.43	34	chr5	141096081	.	C	A	4688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=699;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.48;MQRankSum=2.05;QD=13.32;ReadPosRankSum=-0.148;SOR=0.549	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1034	9	0	1	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H	.	416	1054	51	1	0	53	0.0245257	.	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013092	0.005051	0.010870	0.008772	0.000000	0.017241	0.027439	0.015152	0.05	1493.43	85	chr5	141122851	.	G	C	1493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.359;DP=704;ExcessHet=0;FS=3.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.245;SOR=0.914	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	9	0	1	0
chr5	141173765	141173765	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G930C:p.E310D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.202633084596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999782	0.20372	N	3.055	0.86842	M	-0.65	0.72237	T	-2.94	0.61435	D	0.544	0.57092	-0.3457	0.73678	T	0.537	0.82887	D	9	0.9353602	0.92867	D	0.202633	0.86831	D	0.474	0.76685	0.817	0.93127	0.794638162076	0.79272	0.2056605258777981	0.20483	0.542382466446	0.51350	0.462000310421	0.33585	T	0.126879	0.45355	T	0.0487642	0.58182	T	-0.16773	0.57650	T	0.970979869365692	0.69145	D	0.909209	0.67884	D	0.39501306	0.60385	0.42082992	0.66034	0.39501306	0.60386	0.42082992	0.66034	-11.333	0.81453	D	.	.	0.814	0.77941	P	.	.	2.079273	0.26445	17.12	0.996342216413029	0.76264	0.23594	0.22126	N	AEFDBI	0.227155	0.35101	N	0.0545368441754623	0.44352	2.710791	-0.191872681521743	0.31834	1.805331	0.0134669852051686	0.12468	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	-1.57	0.08055	0.632000	0.24273	.	.	0.676000	0.76740	0.107000	0.22934	0.000000	0.08366	0.938000	0.47775	0.5702:0.0:0.4298:0.0	10.905	0.46286	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	65.43	35	chr5	141173765	.	G	C	65.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-7.087;DP=825;ExcessHet=0;FS=145.487;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.08;SOR=7.327	GT:AD:DP:GQ:PL	0/0:127,0:127:79:0,79,2976	9	0	1	0
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	248.99	170	chr5	141173766	.	G	A	248.99	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.053;DP=1428;ExcessHet=0.2348;FS=204.026;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.239;SOR=9.704	GT:AD:DP:GQ:PL	./.:114,0:114:0:0,0,2232	2	0	2	6
chr5	141179037	141179037	C	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C1003A:p.L335M	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0104	0.00778754	0.0029	0.0327	0.0007	0	0	7.492e-05	0.0011	0	0.0027167	420	154602	rs7700858	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0008	0	0	0	0.0012	2.788e-05	0.0017	6.956e-05	0.0087	0.0088	0.0090	0.0083	0.0304	0.0083	0.0081	0.0291	0.0285	0.0304	0	0.0028	0	0	0	0	5.879e-05	0.0043	0.0002	0.033	0.44358	D	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.64	0.01799	T	-0.71	0.20145	N	0.327	0.36779	-0.9633	0.38547	T	0.003	0.00961	T	9	0.0042194426	0.00084	T	.	.	.	0.032	0.07718	.	.	0.264081493735	0.26024	0.009740665806931805	0.00936	0.307721486312	0.33067	0.358101963997	0.19109	T	.	.	.	-0.691263	0.00041	T	-0.74066	0.03863	T	0.00452223462958757	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18414	B	.	.	1.531985	0.19653	14.37	0.98835475575925213	0.47035	0.01446	0.04850	N	AEFDGBI	0.068001	0.13394	N	-0.731732855537774	0.15133	0.760053	-0.858413263038488	0.13085	0.6768825	0.0456891990770014	0.14661	0.59774	0.34471	0	0.547309	0.14657	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.25	-0.176	0.12658	-4.407000	0.00274	.	.	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.587000	0.31065	0.0:0.3848:0.2733:0.3419	4.856	0.12920	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3292.43	275	chr5	141179037	.	C	A	3292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.449;DP=2403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.84;MQRankSum=-0.925;QD=5.03;ReadPosRankSum=-0.558;SOR=0.675	GT:AD:DP:GQ:PL	0/0:133,0:133:99:0,120,1800	9	0	1	0
chr5	141179746	141179746	C	T	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C1712T:p.A571V	.	18	1502	2	0	0	2	0.000665336	.	.	.	2388401	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0585790464368	0.0004	0.000199681	0.0003	0.0001	0.0003	0	0	0.0005	0	0.0003	7.68e-05	2	26028	rs141057693	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	5.989e-05	0.0002	0.0055	0	0	0	0.0002	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0001	0.0001	9.617e-05	0	0.0002	0.0066	0	0	0	0.0002	0	0.0004	0.031	0.45039	D	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.2	0.60111	T	-3.27	0.65512	D	0.09	0.06854	-0.8327	0.53127	T	0.202	0.55919	T	9	0.010360658	0.00231	T	0.058579	0.67369	D	0.107	0.30369	.	.	0.54249775568	0.53903	0.12960768829142308	0.12885	0.301071891717	0.32454	0.573905348778	0.49229	T	.	.	.	-0.194442	0.21609	T	-0.517079	0.20591	T	0.0483327444130339	0.05204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11414	B	.	.	1.164847	0.15540	11.93	0.99564452630964706	0.72014	0.08686	0.14580	N	AEFBI	0.070786	0.14064	N	-0.561790750729598	0.20115	1.058057	-0.592509009112781	0.19687	1.057401	0.00700901436650258	0.11362	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.22	2.41	0.28644	0.078000	0.14615	.	.	-0.632000	0.04510	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.6364:0.0:0.3636	7.354	0.25884	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000561	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2070.43	277	chr5	141179746	.	C	T	2070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.72;DP=1397;ExcessHet=0;FS=18.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.31;MQRankSum=-0.379;QD=7.47;ReadPosRankSum=1.04;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:120,0:120:99:.:.:0,119,1800:.	9	0	1	0
chr5	141180003	141180003	G	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.G1969A:p.A657T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0248731276948	.	.	8.719e-06	0	0	0	0	1.604e-05	0	0	.	.	.	rs782064898	6.866e-07	1.368e-06	0	1.38e-06	2.993e-05	0	0	.	.	2.993e-05	0	0	0	0	0	0	0	0	6.568e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.034	0.44029	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.74	0.50459	T	-1.41	0.34795	N	0.154	0.15888	-0.8915	0.48802	T	0.154	0.48481	T	9	0.18577588	0.34014	T	0.024873	0.47855	T	0.116	0.32463	0.64	0.77687	0.540970351286	0.53750	0.27035885635745177	0.26948	0.362057876894	0.37861	0.523856282234	0.42169	T	.	.	.	-0.184236	0.23107	T	-0.502419	0.22096	T	0.521791219711304	0.33431	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23535	B	.	.	2.588080	0.33566	19.38	0.99632989099144942	0.76142	0.04771	0.10481	N	AEFDBI	0.052388	0.09347	N	-0.382288687109739	0.26100	1.421877	-0.333873679062845	0.27013	1.49598	0.280240649048698	0.18981	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.22	4.22	0.49153	1.192000	0.31759	.	.	0.347000	0.19874	0.002000	0.15269	0.057000	0.21958	0.013000	0.09966	0.0:0.0:1.0:0.0	16.283	0.82535	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1022.43	96	chr5	141180003	.	G	A	1022.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=982;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=0.247;QD=10.12;ReadPosRankSum=-1.996;SOR=0.803	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	9	0	1	0
chr5	141189272	141189272	C	T	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C1954T:p.R652C	.	78	1435	9	0	0	9	0.00312609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0015	0.0006	0.0018	0.0005	0.0002	0.0022	0.0024	0.0005	0.000194	30	154602	rs534535624	0.0037	0.0048	0.0037	0.0037	0.0081	0.0036	0.0036	0.0059	0.0052	0.0010	0.0035	0.0016	0.0001	0.0012	0.0081	0.0042	0.0036	0.0014	0.0043	0.0044	0.0048	0.0039	0.0069	0.0041	0.0040	0.0064	0.0062	0.0019	0	0.0042	0.0035	0.0002	0.0008	0.0034	0.0069	0.0085	0.0019	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0086324215	0.00196	T	.	.	.	.	.	.	.	0.433600339574	0.42977	0.3049119517238209	0.30404	.	.	0.443066358566	0.30996	T	.	.	.	-0.464479	0.00921	T	-0.445516	0.28193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18869	B	.	.	2.324416	0.29769	18.23	0.97148159929137468	0.32573	0.20372	0.21017	N	AEFI	.	.	.	.	.	.	.	.	.	0.0754974780936962	0.15698	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.614049	0.41051	3.32	1.17	0.19998	1.621000	0.36597	.	.	0.302000	0.18967	0.007000	0.17678	0.000000	0.08366	0.295000	0.24381	0.2915:0.7085:0.0:0.0	11.42	0.49219	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003352	0.000000	0.004087	0.004237	0.000000	0.008772	0.006757	0.000000	0.15	3325.45	123	chr5	141189272	.	C	T	3325.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.05;DP=1074;ExcessHet=0.7463;FS=2.082;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.22;MQRankSum=-5.741;QD=7.66;ReadPosRankSum=-0.067;SOR=0.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:105,0:105:99:.:.:0,120,1800:.	7	0	3	0
chr5	141192769	141192769	C	A	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C217A:p.Q73K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00241585611844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.17821	T	0.079	0.42086	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.9	0.50570	L	1.61	0.28391	T	-0.78	0.21644	N	0.056	0.02759	-1.0573	0.12439	T	0.056	0.23753	T	9	0.09970009	0.18111	T	0.002416	0.04729	T	0.090	0.26093	0.592	0.72123	0.537034694273	0.53353	0.24422634920539615	0.24336	.	.	0.543105483055	0.44885	T	0.012606	0.11050	T	-0.270392	0.11713	T	-0.626176	0.10706	T	0.0533154360642086	0.06073	T	0.019598	0.00107	T	0.091423444	0.21421	0.110798106	0.26719	0.091423444	0.21420	0.110798106	0.26719	-4.921	0.35970	T	.	.	0.081	0.08465	B	.	.	0.555198	0.09238	6.020	0.89803554341760394	0.19115	0.04978	0.10747	N	AEFDGBI	0.085226	0.17275	N	-0.67339732592465	0.16781	0.858051	-0.655850147944799	0.18068	0.9636407	0.458129148119192	0.20600	0.553676	0.25195	0	0.588015	0.36545	0	0.606884	0.38211	0	0.620846	0.47308	0	.	.	3.46	3.46	0.38718	-0.098000	0.10993	.	.	-0.992000	0.01845	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1916:0.8084:0.0:0.0	10.662	0.44904	676	0.60355	Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	728.43	34	chr5	141192769	.	C	A	728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=344;ExcessHet=0;FS=10.484;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.29;MQRankSum=-1.441;QD=15.18;ReadPosRankSum=-1.167;SOR=1.64	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	9	0	1	0
chr5	141194351	141194351	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C1799T:p.A600V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	.	.	0.00798722	0.0017	0.0256	0.0006	0	0	5.973e-05	0	0	0.0019978	52	26028	rs534628725	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0009	0	0	0	0.0005	3.42e-05	0.0017	6.973e-05	0.0089	0.0089	0.0092	0.0085	0.0309	0.0085	0.0083	0.0295	0.0289	0.0309	0	0.0030	0	0	0	0	8.836e-05	0.0052	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.872052	0.35582	D	3.915	0.96218	H	0.12	0.61089	T	-3.77	0.71397	D	0.371	0.41261	0.521	0.90846	D	0.520	0.82086	D	9	0.012220383	0.00264	T	.	.	.	0.385	0.70194	0.911	0.98230	0.88962124309	0.88853	0.3344237743359311	0.33355	.	.	0.627160727978	0.56742	T	0.114175	0.43177	T	-0.32185	0.06747	T	-0.214142	0.53298	T	0.0861729266805892	0.10757	T	0.972103	0.89869	D	0.5056685	0.67426	0.5521903	0.74105	0.5056685	0.67427	0.5521903	0.74105	-11.928	0.84497	D	.	.	0.808	0.77641	P	.	.	3.018391	0.40391	21.2	0.99921621983022568	0.98787	0.63597	0.32139	D	AEFI	0.555293	0.56579	D	0.554340876879688	0.70349	5.488187	0.353241945113823	0.58703	4.042481	0.927753107527927	0.26901	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.43	3.43	0.38372	2.519000	0.45206	.	.	0.420000	0.20791	0.011000	0.18532	0.772000	0.26708	0.293000	0.24333	0.0:1.0:0.0:0.0	15.076	0.71746	670	0.60992	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002398	0.000000	0.005618	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	317.43	59	chr5	141194351	.	C	T	317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.181;DP=536;ExcessHet=0;FS=4.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.17;MQRankSum=0.257;QD=5.77;ReadPosRankSum=0.324;SOR=1.168	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	9	0	1	0
chr5	141201128	141201128	A	T	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.A1354T:p.T452S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0072	0.00678914	0.0018	0.0209	0.0003	0	0	2.997e-05	0	0	0.0017594	272	154602	rs61739365	0.0006	0.0006	0.0007	0.0006	0.0220	0.0006	0.0006	0.0207	0.0201	0.0220	0.0009	0	0	0	0.0009	4.047e-05	0.0015	5.797e-05	0.0064	0.0064	0.0068	0.0060	0.0223	0.0061	0.0060	0.0211	0.0206	0.0223	0	0.0021	0	0	0	0.0034	7.354e-05	0.0076	0	0.195	0.20759	T	0.773	0.04431	T	0.066	0.23586	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	0.315	0.10303	N	4.16	0.02791	T	-3.08	0.63323	D	0.027	0.02964	-0.9021	0.47771	T	0.002	0.00707	T	9	0.004606068	0.00096	T	.	.	.	0.063	0.18251	0.237	0.16760	0.223847106136	0.22009	0.04190349517943562	0.04135	0.210590298117	0.23551	0.372912406921	0.21249	T	0.102792	0.41085	T	-0.738877	0.00021	T	-0.817202	0.01510	T	0.00550366659484307	0.00060	T	0.677732	0.28664	T	0.06807655	0.14799	0.07999842	0.18060	0.06807655	0.14799	0.07999842	0.18059	-6.102	0.59871	T	.	.	0.073	0.05060	B	.;.	.;.	0.518932	0.08879	5.657	0.58015835501229496	0.05897	0.05052	0.10841	N	AEFBI	0.079661	0.16093	N	-1.2668893611406	0.04081	0.183512	-1.31194724662658	0.04275	0.2012913	0.001480686369557	0.08567	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.52	-0.457	0.11578	-1.554000	0.02276	.	.	0.377000	0.20376	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.2751:0.1908:0.1592:0.3748	0.189	0.00123	666	0.61362	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001056	0.000000	0.000000	0.008130	0.000000	0.000000	0.000000	0.000000	0.05	4697.43	36	chr5	141201128	.	A	T	4697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.87;DP=934;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=3.77;QD=13.38;ReadPosRankSum=0.357;SOR=0.747	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	9	0	1	0
chr5	141201807	141201807	C	A	exonic	PCDHB11	.	nonsynonymous SNV	PCDHB11:NM_018931:exon1:c.C2033A:p.P678Q	.	168	1321	32	1	0	34	0.0127055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0027	0.00399361	0.0039	0.0004	0.0004	0.0001	0.0027	0.0040	0.0067	0.0097	0.0035381	547	154602	rs141800205	0.0040	0.0039	0.0036	0.0043	0.0102	0.0039	0.0038	0.0096	0.0094	0.0003	0.0016	0.0069	0	0.0020	0.0085	0.0038	0.0036	0.0102	0.0033	0.0033	0.0031	0.0036	0.0087	0.0031	0.0030	0.0066	0.0059	0.0005	0	0.0039	0.0078	0	0.0024	0.0102	0.0047	0.0014	0.0087	0.201	0.20306	T	0.207	0.35840	T	0.013	0.16609	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.02	0.25474	L	0.8	0.48769	T	-3.23	0.65056	D	0.087	0.11769	-0.9282	0.44400	T	0.088	0.34078	T	9	0.0062874258	0.00142	T	.	.	.	0.056	0.15993	.	.	0.424430313326	0.42057	0.21207624426873645	0.21123	0.218745738451	0.24414	0.432624101639	0.29567	T	0.027678	0.20215	T	-0.618637	0.00112	T	-0.652011	0.08814	T	0.00542685166688873	0.00059	T	0.467153	0.14032	T	0.035338838	0.04141	0.072137386	0.15528	0.035338838	0.04141	0.072137386	0.15528	-9.301	0.70254	D	.	.	0.078	0.08368	B	.;.	.;.	1.146609	0.15341	11.78	0.54837505654297913	0.05218	0.01440	0.04836	N	AEFDI	0.031168	0.03277	N	-1.00260200278716	0.08550	0.401287	-1.15715369112361	0.06640	0.3203102	0.00276586595352238	0.09691	0.490419	0.18000	1	0.573888	0.26702	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	2.77	-2.14	0.06725	-1.779000	0.01874	.	.	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4176:0.2069:0.1464:0.229	0.535	0.00593	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005495	0.000000	0.004076	0.004202	0.000000	0.000000	0.013072	0.007937	0.05	1690.43	102	chr5	141201807	.	C	A	1690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.08;DP=717;ExcessHet=0;FS=1.529;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=-0.937;QD=15.51;ReadPosRankSum=0.871;SOR=0.877	GT:AD:DP:GQ:PL	0/0:103,0:103:99:0,120,1800	9	0	1	0
chr5	141210318	141210318	G	C	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1411C:p.G471R	.	366	1155	1	0	0	1	0.000432713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0111	0.00958466	0.0034	0.0341	0.0008	0.0038	0.0002	0.0001	0.0011	0.0001	0.0031694	490	154602	rs145315035	0.0010	0.0010	0.0012	0.0009	0.0341	0.0010	0.0010	0.0324	0.0318	0.0341	0.0011	0	0.0020	1.872e-05	0.0014	0.0001	0.0020	0.0002	0.0091	0.0091	0.0095	0.0086	0.0314	0.0087	0.0085	0.0300	0.0294	0.0314	0	0.0030	0	0.0027	0	0	8.819e-05	0.0052	0.0004	0.007	0.59928	D	0.341	0.22016	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.985	0.85602	M	3.61	0.04446	T	-7.82	0.95977	D	0.437	0.49146	-1.1054	0.03497	T	0.023	0.09787	T	9	0.006754726	0.00153	T	.	.	.	0.091	0.26358	.	.	0.446913017954	0.44314	0.46290196238067366	0.46209	0.837374831212	0.67867	0.583363950253	0.50560	T	0.11456	0.43247	T	-0.524249	0.00415	T	-0.500061	0.22342	T	0.0780224049285195	0.09732	T	0.791921	0.52631	T	0.5681954	0.70961	0.47368822	0.69494	0.5681954	0.70963	0.47368822	0.69494	-10.783	0.78454	D	.	.	0.627	0.76156	P	.;.	.;.	3.552458	0.49947	22.9	0.99842727283516974	0.92316	0.11205	0.16478	N	AEFBI	0.118241	0.23130	N	0.395162359066995	0.61159	4.313366	0.220928282326697	0.51011	3.287352	0.00829722530760405	0.11648	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	-0.158000	0.10058	.	.	0.593000	0.32247	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.0:0.1672:0.6611:0.1717	8.378	0.31614	692	0.58729	.;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003171	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2844.43	33	chr5	141210318	.	G	C	2844.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.075;DP=563;ExcessHet=0;FS=0.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=1.08;QD=12.76;ReadPosRankSum=-0.833;SOR=0.649	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr5	141210753	141210753	G	C	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1846C:p.G616R	.	30	1479	13	0	0	13	0.00437563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00851517375919	.	0.000998403	0.0005	0	0.0008	0	0	0.0006	0.0039	0.0005	0.0004226	11	26028	rs528495738	0.0003	0.0003	0.0003	0.0003	0.0063	0.0003	0.0003	0.0044	0.0038	0.0001	0.0013	0.0012	0	0	0.0063	0.0002	0.0006	0.0003	0.0005	0.0005	0.0005	0.0004	0.0024	0.0004	0.0003	0.0018	0.0016	0.0001	0	0.0024	0.0012	0	0	0.0102	0.0003	0.0009	0.0002	0.015	0.52492	D	0.045	0.49390	D	0.872	0.47902	P	0.797	0.58061	P	.	.	.	.	1	0.08975	N	-0.425	0.02884	N	0.9	0.45248	T	-3.88	0.72710	D	0.059	0.03069	-0.9018	0.47803	T	0.058	0.24354	T	9	0.01379326	0.00291	T	0.008515	0.22507	T	0.156	0.40720	.	.	0.303781844768	0.29979	0.4101502521765602	0.40931	0.575490844453	0.53544	0.53446149826	0.43663	T	0.018948	0.15187	T	-0.609488	0.00128	T	-0.698704	0.05896	T	0.118801347079133	0.14313	T	0.375062	0.15636	T	0.3332098	0.55732	0.20432355	0.44551	0.3332098	0.55732	0.20432355	0.44550	-6.169	0.52804	T	.	.	0.147	0.37858	B	.;.	.;.	-0.462367	0.01991	0.175	0.90808590698680036	0.20057	0.02043	0.06114	N	AEFBI	0.107462	0.21410	N	-1.17974751373938	0.05306	0.242	-1.29056837639162	0.04557	0.215216	0.196129241931373	0.18061	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	3.53	-6.48	0.01726	-4.772000	0.00217	.	.	-1.239000	0.01316	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.6694:0.2212:0.1094:0.0	9.130	0.36000	692	0.58729	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009804	0.005263	0.009511	0.020833	0.000000	0.026316	0.000000	0.000000	0.05	1438.43	33	chr5	141210753	.	G	C	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.375;DP=487;ExcessHet=0;FS=6.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.77;MQRankSum=-0.947;QD=10.98;ReadPosRankSum=-0.242;SOR=0.312	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr5	141247332	141247332	T	C	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.T1754C:p.L585P	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	.	0.0015	0.00239617	0.0043	0.0005	0.0094	0	0.0002	0.0053	0.0162	0.0020	0.0004916	76	154602	rs200613205	0.0045	0.0045	0.0046	0.0045	0.0194	0.0045	0.0044	0.0159	0.0147	0.0018	0.0087	0.0053	2.523e-05	0.0003	0.0194	0.0049	0.0054	0.0016	0.0035	0.0035	0.0035	0.0034	0.0058	0.0032	0.0031	0.0048	0.0045	0.0010	0	0.0058	0.0058	0	0.0004	0.0068	0.0051	0.0095	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999949	0.51968	D	2.37	0.68279	M	0.7	0.51474	T	-6.7	0.92476	D	0.803	0.79889	-0.4784	0.69426	T	0.276	0.64783	T	9	0.024506003	0.00676	T	.	.	.	0.507	0.78786	.	.	0.771716378111	0.76962	0.7332013691823474	0.73265	1.40351083469	0.85255	0.6692892313	0.62736	T	0.032607	0.22561	T	-0.245524	0.14652	T	-0.119623	0.61833	T	0.0386058951901212	0.03439	T	0.967203	0.88094	D	0.94529605	0.95787	0.90988696	0.95680	0.94529605	0.95787	0.90988696	0.95681	-10.281	0.75577	D	.	.	0.627	0.70007	P	.	.	3.702648	0.52822	23.3	0.99824757429874189	0.90677	0.93573	0.58587	D	AEFBI	0.801118	0.72691	D	0.608887404419376	0.73734	6.015101	0.53627324060847	0.70448	5.506766	0.481477650091747	0.20789	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.02	4.02	0.45968	4.882000	0.62813	.	.	0.493000	0.22426	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.0:1.0	12.957	0.57830	698	0.58074	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018272	0.000000	0.024590	0.042735	0.000000	0.017241	0.006667	0.003937	0.15	2689.45	70	chr5	141247332	.	T	C	2689.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.311;DP=534;ExcessHet=0.7463;FS=2.399;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=41.91;MQRankSum=-1.258;QD=12.99;ReadPosRankSum=-0.072;SOR=0.525	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	7	0	3	0
chr5	141247482	141247482	T	C	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.T1904C:p.V635A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00410780422853	.	.	9.521e-05	0	0.0004	0	0	9.565e-05	0	6.081e-05	.	.	.	rs17844635	9.75e-05	0.0001	0.0001	9.383e-05	0.0004	8.408e-05	7.945e-05	0.0003	0.0002	2.994e-05	0.0004	0	0.0004	1.983e-05	0	7.196e-05	0.0003	8.126e-05	0.0003	0.0003	0.0003	0.0004	0.0021	0.0002	0.0002	0.0015	0.0013	2.405e-05	0	0.0021	0	0	0	0	0.0001	0.0028	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.935	0.01286	N	0.72	0.50976	T	2.64	0.00202	N	0.014	0.00160	-0.9897	0.32677	T	0.034	0.14464	T	9	0.011955917	0.00259	T	0.004108	0.09838	T	0.039	0.10176	0.498	0.58835	0.458464862945	0.45469	0.2869381214816212	0.28606	0.512607946338	0.49291	0.550427496433	0.45918	T	5.57E-4	0.00219	T	-0.359161	0.04178	T	-0.753686	0.03345	T	0.0090969121300539	0.00114	T	0.283672	0.04999	T	0.016607454	0.00209	0.03379814	0.02335	0.016607454	0.00209	0.03379814	0.02334	2.293	0.00039	T	.	.	0.046	0.00060	B	.	.	0.220842	0.06030	2.474	0.33101386275899913	0.01954	0.00212	0.01206	N	AEFDBI	0.018278	0.00542	N	-1.28179172440203	0.03894	0.1748106	-1.12079363477591	0.07303	0.354739	0.00510431179536543	0.10829	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.28	2.45	0.28953	-1.301000	0.02857	.	.	-1.104000	0.01503	0.000000	0.06391	0.000000	0.08366	0.972000	0.54974	0.0:0.5714:0.1546:0.274	4.904	0.13144	697	0.58201	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1232.43	125	chr5	141247482	.	T	C	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.635;DP=529;ExcessHet=0;FS=4.375;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.31;MQRankSum=-7.506;QD=9.86;ReadPosRankSum=0.038;SOR=1.101	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr5	141247884	141247884	C	T	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.C2306T:p.P769L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0420752177717	7.7e-05	0.000399361	0.0003	0	0	0	0	6.003e-05	0.0011	0.0019	0.0002587	40	154602	rs144911247	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0002	0.0018	0.0017	0	0	0	2.519e-05	0	0.0007	6.025e-05	0.0002	0.0020	8.535e-05	8.53e-05	3.854e-05	0.0001	0.0019	4.953e-05	3.96e-05	0.0010	0.0007	2.406e-05	0	0	0	0	0	0	4.411e-05	0	0.0019	0.001	0.78490	D	0.001	0.83351	D	0.991	0.64070	D	0.887	0.62952	P	.	.	.	.	0.999979	0.53665	D	4.07	0.97156	H	2.22	0.18248	T	-8.41	0.97155	D	0.231	0.25989	-0.7741	0.56631	T	0.134	0.44739	T	9	0.024634957	0.00684	T	0.042075	0.60271	D	0.222	0.51872	.	.	0.717185638734	0.71469	0.3404634470887799	0.33959	1.26618572042	0.82168	0.444132089615	0.31142	T	0.008689	0.07960	T	-0.349829	0.04737	T	-0.30536	0.44155	T	0.501815607894214	0.32696	D	0.943906	0.78806	D	0.4438632	0.63651	0.51738226	0.72116	0.4438632	0.63651	0.51738226	0.72116	-9.445	0.70516	D	.	.	0.184	0.39932	B	.	.	2.818126	0.37116	20.4	0.99807281645808898	0.89174	0.66084	0.32956	D	AEFDI	0.211271	0.33708	N	0.413185867644383	0.62146	4.425893	0.273271237912443	0.53984	3.564901	0.996426748179375	0.34736	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.39	4.39	0.52211	1.417000	0.34378	.	.	0.596000	0.33519	0.103000	0.22855	0.999000	0.35428	0.134000	0.19723	0.0:1.0:0.0:0.0	16.975	0.86183	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2733.43	38	chr5	141247884	.	C	T	2733.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=583;ExcessHet=0;FS=3.18;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.911;SOR=0.927	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr5	141303076	141303076	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G790C:p.A264P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547	0.02593074321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.109	0.37449	T	0.064	0.23455	B	0.182	0.35926	B	0.000001	0.62929	D	0.056937	0.999826	0.49512	D	2.79	0.81396	M	-1.37	0.80214	T	-3.45	0.67589	D	0.845	0.84090	-0.1835	0.78092	T	0.535	0.82801	D	10	0.9284315	0.92186	D	0.025931	0.48873	D	0.547	0.81193	0.791	0.91291	0.884658337928	0.88352	0.7290688332212876	0.72851	0.262950019928	0.28855	0.449340850115	0.31854	T	0.479776	0.80904	T	0.23827	0.77498	D	0.104482	0.77205	D	0.957836449146271	0.65112	D	0.89491	0.63503	D	0.762455	0.81598	0.80573183	0.88630	0.762455	0.81600	0.80573183	0.88631	-5.444	0.41340	T	.	.	0.175	0.38390	B	.	.	3.021983	0.40446	21.2	0.9858229229097939	0.43258	0.95743	0.65965	D	AEFBI	0.575375	0.57779	D	-0.216525908424601	0.32454	1.830551	-0.301020416512166	0.28067	1.561956	0.0104774781031773	0.12031	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.04	0.19220	3.425000	0.52535	.	.	0.596000	0.33519	1.000000	0.71638	0.457000	0.24983	0.947000	0.49155	0.0:0.6922:0.0:0.3078	7.424	0.26258	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	553.43	34	chr5	141303076	.	C	G	553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.971;DP=550;ExcessHet=0;FS=215.001;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.84;SOR=7.978	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3708.82	169	chr5	141303079	.	C	G	3708.82	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-4.49;DP=1503;ExcessHet=2.8389;FS=221.973;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=2.36;SOR=10.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,33:173:99:.:.:883,0,4167:.	4	0	4	2
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	3708.82	169	chr5	141303079	.	C	T	3708.82	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-4.49;DP=1503;ExcessHet=2.8389;FS=221.973;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=4.1;ReadPosRankSum=2.36;SOR=10.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:129,11:173:99:.:.:883,435,5593:.	7	0	1	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:129,55:184:99:.:.:1042,0,4155:.	1	0	8	1
chr5	141332656	141332656	G	A	exonic	PCDHGA1	.	nonsynonymous SNV	PCDHGA1:NM_018912:exon1:c.G1972A:p.V658I,PCDHGA1:NM_031993:exon1:c.G1972A:p.V658I	.	9	1503	10	0	0	10	0.00331565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0124638424682	0.0031	0.00219649	0.0040	0.0007	0.0039	0	0.0009	0.0055	0.0045	0.0031	0.0035899	555	154602	rs144494457	0.0039	0.0039	0.0039	0.0039	0.0051	0.0038	0.0038	0.0043	0.0042	0.0006	0.0039	0.0021	2.519e-05	0.0013	0.0051	0.0044	0.0036	0.0034	0.0030	0.0030	0.0029	0.0030	0.0042	0.0027	0.0026	0.0038	0.0037	0.0007	0.0779	0.0020	0.0017	0	0.0007	0.0034	0.0042	0.0028	0.0025	0.075	0.36709	T	0.05	0.48855	T	0.373	0.35524	B	0.169	0.39460	B	0.013067	0.28961	N	0.161132	0.999874	0.19925	N	2.39	0.68882	M	0.64	0.52867	T	-0.86	0.23372	N	0.074	0.08646	-0.9272	0.44545	T	0.134	0.44856	T	10	0.0055934787	0.00124	T	0.012464	0.31052	T	0.098	0.28162	.	.	0.658416286431	0.65555	0.3349144638359277	0.33404	0.403497573991	0.41283	.	.	.	0.095389	0.39610	T	-0.569302	0.00223	T	-0.589723	0.13690	T	0.00840691630475525	0.00102	T	0.815518	0.47040	T	0.05015328	0.09019	0.07202309	0.15489	0.05015328	0.09018	0.07202309	0.15488	-11.716	0.84082	D	.	.	0.09	0.12607	B	.;.	.;.	1.675652	0.21359	15.16	0.98293993557888693	0.39973	0.89234	0.49577	D	AEFDBHI	0.184420	0.31174	N	-0.129215383799397	0.36125	2.083882	-0.161143010309826	0.32982	1.881894	0.172853757004976	0.17761	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.77	1.96	0.25203	2.046000	0.40883	.	.	0.608000	0.46601	0.030000	0.20431	0.145000	0.23127	0.520000	0.29475	0.1831:0.0:0.8169:0.0	9.997	0.41076	474	0.77851	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005285	0.000000	0.008152	0.000000	0.000000	0.017241	0.006098	0.000000	0.05	1583.43	89	chr5	141332656	.	G	A	1583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.187;DP=696;ExcessHet=0;FS=4.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.35;MQRankSum=7.82;QD=17.79;ReadPosRankSum=-1.041;SOR=0.374	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	9	0	1	0
chr5	141399395	141399395	G	A	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.G1268A:p.R423K,PCDHGB5:NM_032099:exon1:c.G1268A:p.R423K	.	422	1048	52	0	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0115815	0.0072	0.0003	0.0010	0.0002	0	0.0009	0.0056	0.0474	0.0062354	964	154602	rs200724467	0.0034	0.0034	0.0020	0.0048	0.0467	0.0033	0.0033	0.0455	0.0450	0.0001	0.0005	0.0010	0.0001	0	0.0083	0.0006	0.0037	0.0467	0.0021	0.0022	0.0013	0.0031	0.0542	0.0020	0.0019	0.0488	0.0467	0.0002	0	0.0006	0.0006	0.0002	0	0	0.0006	0.0009	0.0542	.	.	.	0.978	0.02725	T	0.004	0.12183	B	0.008	0.16862	B	.	.	.	.	1	0.08975	N	-0.12	0.04575	N	.	.	.	.	.	.	0.029	0.01911	.	.	.	.	.	.	.	0.0063636303	0.00144	T	.	.	.	.	.	.	.	0.396345573744	0.39253	0.14224547678667673	0.14147	.	.	.	.	.	0.003024	0.02422	T	-0.578101	0.00198	T	-0.56887	0.15553	T	.	.	.	0.19718	0.02190	T	0.055138256	0.10677	0.13391058	0.32101	0.055138256	0.10676	0.13391058	0.32100	-4.491	0.31382	T	.	.	0.077	0.06387	B	.;.	.;.	0.336922	0.07107	3.681	0.81841351350510849	0.13887	0.02416	0.06831	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0952349597335558	0.16223	0.145562	0.03210	1	0.097471	0.02872	0	0.072005	0.02045	0	0.234357	0.04698	0	0.129061	0.25605	4.63	1.54	0.22290	0.019000	0.13337	.	.	-0.151000	0.12117	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.4323:0.0:0.4119:0.1558	4.216	0.09991	809	0.43032	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.005435	0.011696	0.000000	0.017241	0.024390	0.022727	0.05	2579.43	126	chr5	141399395	.	G	A	2579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.976;DP=855;ExcessHet=0;FS=2.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.206;SOR=0.696	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	9	0	1	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1816.95	39	chr5	141400463	.	A	G	1816.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-6.363;DP=2409;ExcessHet=7.0302;FS=249.381;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=59.97;MQRankSum=0;QD=0.97;ReadPosRankSum=0.964;SOR=12.843	GT:AD:DP:GQ:PL	0/1:185,62:247:53:53,0,3315	3	0	7	0
chr5	141408395	141408395	A	G	exonic	PCDHGB6	.	nonsynonymous SNV	PCDHGB6:NM_018926:exon1:c.A193G:p.K65E,PCDHGB6:NM_032100:exon1:c.A193G:p.K65E	.	427	992	96	7	0	110	0.052531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0039	0.0177716	0.0132	0.0018	0.0073	0.0002	0.0002	0.0060	0.0112	0.0649	0.0115652	1788	154602	rs200317374	0.0090	0.0090	0.0072	0.0109	0.0640	0.0089	0.0088	0.0626	0.0620	0.0013	0.0071	0.0148	0.0002	0.0005	0.0333	0.0054	0.0104	0.0640	0.0065	0.0065	0.0056	0.0074	0.0700	0.0061	0.0060	0.0638	0.0614	0.0015	0	0.0097	0.0138	0.0002	0	0.0238	0.0053	0.0099	0.0700	0.163	0.23450	T	0.139	0.33666	T	0.245	0.32288	B	0.222	0.42079	B	.	.	.	.	1	0.81001	D	2.305	0.65957	M	1.66	0.27486	T	-2.58	0.55662	D	0.319	0.35938	-0.9662	0.37974	T	0.092	0.35201	T	9	0.0031889975	0.00054	T	.	.	.	0.143	0.38195	.	.	.	.	0.6703808707331448	0.66976	0.709368004076	0.61626	.	.	.	0.027923	0.20342	T	-0.44909	0.01144	T	-0.370749	0.36801	T	0.0475444560771186	0.05062	T	0.354964	0.08219	T	0.2165191	0.44112	0.34913993	0.60543	0.2165191	0.44112	0.34913993	0.60543	-9.816	0.73834	D	.	.	0.290	0.52202	B	.;.	.;.	2.840616	0.37476	20.5	0.99325023159566861	0.59546	0.60219	0.31134	D	AEFDGBI	0.346170	0.44107	N	-0.0240420988650684	0.40769	2.426813	0.0169669784007313	0.40504	2.418219	0.999999795248276	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	5.38	5.38	0.77279	2.296000	0.43245	.	.	0.542000	0.25261	0.004000	0.16614	0.001000	0.17328	0.750000	0.35786	0.9269:0.0:0.0731:0.0	11.343	0.48780	814	0.42100	.;Cadherin, N-terminal|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.042347	0.025253	0.023098	0.053797	0.050000	0.043103	0.042945	0.049242	0.05	1758.43	40	chr5	141408395	.	A	G	1758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.191;DP=641;ExcessHet=0;FS=3.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.7;MQRankSum=-7.886;QD=9.56;ReadPosRankSum=0.408;SOR=0.665	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	9	0	1	0
chr5	141415363	141415363	C	T	exonic	PCDHGA10	.	stopgain	PCDHGA10:NM_018913:exon1:c.C2188T:p.Q730X,PCDHGA10:NM_032090:exon1:c.C2188T:p.Q730X	.	9	1501	12	0	0	12	0.00398142	.	.	.	709677	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0034	0.00239617	0.0036	0.0008	0.0022	0.0001	0.0045	0.0042	0.0022	0.0055	0.003454	534	154602	rs62378454	0.0046	0.0046	0.0046	0.0046	0.0056	0.0045	0.0045	0.0052	0.0050	0.0006	0.0026	7.653e-05	0.0001	0.0024	0.0014	0.0052	0.0038	0.0056	0.0030	0.0030	0.0029	0.0031	0.0060	0.0028	0.0027	0.0043	0.0037	0.0009	0	0.0044	0.0006	0	0.0037	0.0034	0.0040	0.0047	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	N	.	.	.	.	.	.	.	.	.	0.051	0.02559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0394185	0.56969	T	0.28535	0.87411	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	7.901541	0.96973	36	0.99270880753810808	0.57559	0.22141	0.21645	N	AEFBI	0.129108	0.24714	N	0.396851916335136	0.61251	4.32373	0.108271646503851	0.44970	2.768699	0.997505839034932	0.35692	0.695654	0.57023	0	0.296712	0.05252	1	0.723109	0.80598	0	0.620976	0.48614	0	.	.	5.32	3.4	0.38031	1.555000	0.35884	.	.	0.596000	0.33519	0.134000	0.23411	0.000000	0.08366	0.093000	0.17941	0.1531:0.6995:0.1474:0.0	10.238	0.42470	819	0.41190	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004757	0.005051	0.002717	0.004098	0.000000	0.008621	0.000000	0.007576	0.05	3260.43	99	chr5	141415363	.	C	T	3260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.308;DP=853;ExcessHet=0;FS=0.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-1.059;QD=12.4;ReadPosRankSum=1.32;SOR=0.657	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	9	0	1	0
chr5	141419169	141419169	C	T	exonic	PCDHGB7	.	nonsynonymous SNV	PCDHGB7:NM_018927:exon1:c.C1310T:p.T437I,PCDHGB7:NM_032101:exon1:c.C1310T:p.T437I	.	426	1091	5	0	0	5	0.00228624	.	.	.	2766893	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00905632394247	.	.	0.0001	0	0	0	0	0.0002	0	6.058e-05	9.06e-05	14	154602	rs746258255	4.721e-05	4.72e-05	4.493e-05	4.951e-05	0.0003	3.794e-05	3.476e-05	0.0001	0.0001	0	4.472e-05	0	0	0	0.0003	3.598e-05	0.0001	0.0002	2.625e-05	2.624e-05	0	5.369e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.386	0.10980	T	0.459	0.13103	T	0.046	0.24543	B	0.073	0.28987	B	0.449722	0.12522	U	0.567660	1	0.08975	N	1.74	0.45129	L	4.64	0.01799	T	-3.15	0.64132	D	0.063	0.04668	-0.9002	0.47973	T	0.006	0.02018	T	10	0.058862776	0.06986	T	0.009056	0.23845	T	0.016	0.02506	0.364	0.37036	0.251116650651	0.24721	0.09640246046521915	0.09572	1.00116411819	0.74409	.	.	.	0.094373	0.39404	T	-0.473332	0.00810	T	-0.681017	0.06922	T	0.0512532332185246	0.05719	T	0.019898	0.00166	T	0.13628627	0.31599	0.11523639	0.27816	0.13628627	0.31599	0.11523639	0.27816	-5.147	0.38398	T	.	.	0.112	0.23113	B	.;.	.;.	1.089835	0.14734	11.28	0.854666930428432	0.15910	0.06311	0.12307	N	AEFDBI	0.186462	0.31377	N	-0.881254326171808	0.11289	0.5439997	-0.879611421659324	0.12577	0.6477898	0.999132229214966	0.38535	0.676563	0.55306	0	0.633656	0.55848	0	0.493711	0.08198	1	0.600526	0.37237	0	.	.	5.48	1.54	0.22290	-0.327000	0.07998	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.5632:0.297:0.1398	8.751	0.33774	819	0.41190	.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3011.43	38	chr5	141419169	.	C	T	3011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=637;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.429;SOR=0.725	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr5	141423053	141423053	T	C	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.T1826C:p.L609P,PCDHGA11:NM_032091:exon1:c.T1826C:p.L609P,PCDHGA11:NM_032092:exon1:c.T1826C:p.L609P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.0346886241507	0.0005	0.00179712	0.0003	0.0036	8.645e-05	0	0	0	0	0	0.0003299	51	154602	rs200154593	8.414e-05	8.414e-05	9.529e-05	7.288e-05	0.0027	7.203e-05	6.75e-05	0.0023	0.0021	0.0027	6.708e-05	0	0	0	0.0014	7.194e-06	0.0002	0	0.0006	0.0006	0.0006	0.0006	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.88582	D	0.037463	0.24398	U	0.000000	1	0.81001	D	4.365	0.98522	H	0.43	0.56772	T	-6.8	0.92903	D	0.937	0.99100	0.341	0.88198	D	0.447	0.78300	T	10	0.07722458	0.12161	T	0.034689	0.55844	D	0.572	0.82629	.	.	0.930852390563	0.93014	0.8090009436739076	0.80855	1.54802404644	0.87850	.	.	.	0.290198	0.66297	T	0.0214491	0.54576	T	0.255928	0.85899	D	0.278957126303902	0.24128	T	0.928407	0.73561	D	0.9570379	0.96980	0.93761325	0.97610	0.9570379	0.96980	0.93761325	0.97611	-15.271	0.97108	D	.	.	0.775	0.86637	P	.;.;.	.;.;.	4.906669	0.80697	27.4	0.99843442883909239	0.92403	0.92583	0.56053	D	AEFDBCI	0.915682	0.88080	D	0.920988506235674	0.92749	11.60597	0.798934983003743	0.89719	10.09244	0.999999999997955	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.620976	0.48614	0	.	.	5.37	5.37	0.76949	6.015000	0.70444	.	.	0.645000	0.52629	1.000000	0.71638	0.996000	0.32793	0.972000	0.54974	0.0:0.0:0.0:1.0	15.371	0.74284	819	0.41190	.;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2050.43	34	chr5	141423053	.	T	C	2050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.306;DP=965;ExcessHet=0;FS=0.56;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.659;SOR=0.749	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,120,1800	9	0	1	0
chr5	141423693	141423693	G	T	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_032091:exon1:c.G2466T:p.W822C	.	25	1495	2	0	0	2	0.000668449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00599042	0.0013	0.0140	0.0002	0	0	8.69e-05	0	0	0.0012031	186	154602	rs114008539	0.0004	0.0003	0.0004	0.0003	0.0111	0.0003	0.0003	0.0101	0.0097	0.0111	0.0004	0	0	0	0.0035	6.423e-05	0.0009	1.521e-05	0.0034	0.0033	0.0034	0.0033	0.0121	0.0031	0.0030	0.0111	0.0108	0.0121	0	0.0010	0	0	0	0	3.043e-05	0.0011	0.0002	.	.	.	0.163	0.31125	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.186	0.20262	.	.	.	.	.	.	.	0.0038594902	0.00073	T	.	.	.	.	.	.	.	0.514530392947	0.51094	.	.	.	.	.	.	.	.	.	.	-0.544624	0.00314	T	-0.544703	0.17838	T	.	.	.	0.313069	0.06141	T	.	.	.	.	.	.	.	.	-1.748	0.02358	T	.	.	0.154	0.33981	B	.	.	-0.550722	0.01712	0.125	0.67608484943091163	0.08406	0.01976	0.05979	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999890498	0.74766	0.07523	0.01759	0	0.097471	0.02872	0	0.083675	0.02720	0	0.091162	0.02695	0	0.0520148	0.10893	5.24	-10.5	0.00234	-4.492000	0.00259	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.4278:0.23:0.1948:0.1474	1.948	0.03157	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1679.43	34	chr5	141423693	.	G	T	1679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.97;DP=603;ExcessHet=0;FS=6.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.988;SOR=1.248	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,99,1485	9	0	1	0
chr5	141431930	141431930	C	A	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.C1171A:p.P391T,PCDHGA12:NM_032094:exon1:c.C1171A:p.P391T	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0313314703212	.	.	0.0002	0	8.64e-05	0	0	2.999e-05	0	0.0015	0.000194	30	154602	rs761060241	0.0002	0.0002	0.0001	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	6.709e-05	0	0	0	0.0005	8.454e-05	9.935e-05	0.0013	9.198e-05	9.194e-05	2.569e-05	0.0002	0.0017	5.527e-05	4.364e-05	0.0008	0.0006	4.827e-05	0	6.543e-05	0	0	0	0	4.409e-05	0	0.0017	0.0	0.91255	D	0.001	0.92824	D	0.998	0.73220	D	0.987	0.80445	D	.	.	.	.	1	0.81001	D	2.775	0.80997	M	0.79	0.49068	T	-7.53	0.95131	D	0.664	0.67304	-0.2101	0.77412	T	0.339	0.70510	T	9	0.27943584	0.45516	T	0.031331	0.53437	D	0.360	0.68052	0.814	0.92925	0.794422777162	0.79250	0.13680685460401348	0.13604	.	.	.	.	.	0.123924	0.44861	T	-0.320438	0.06862	T	-0.257691	0.49054	T	0.394380861057874	0.28730	T	0.959004	0.86318	D	0.6788195	0.76905	0.739071	0.84577	0.6788195	0.76907	0.739071	0.84578	-10.574	0.77271	D	.	.	0.370	0.59011	A	.;.	.;.	4.156617	0.62392	24.5	0.99710275408573001	0.81283	0.93780	0.59170	D	AEFDBI	0.460954	0.51092	N	0.561410418673282	0.70781	5.551961	0.449031870741221	0.64656	4.725656	0.999995646182114	0.74766	0.65757	0.49021	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604282	0.37693	0	.	.	4.84	3.96	0.45097	3.364000	0.52052	.	.	0.599000	0.40250	0.623000	0.27939	1.000000	0.68203	0.997000	0.79791	0.0:0.856:0.144:0.0	14.924	0.70505	818	0.41518	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2440.43	33	chr5	141431930	.	C	A	2440.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.265;DP=521;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.497;SOR=0.712	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1302	9	0	1	0
chr5	141491458	141491458	G	T	exonic	PCDHGC5	.	nonsynonymous SNV	PCDHGC5:NM_018929:exon1:c.G2218T:p.D740Y,PCDHGC5:NM_032407:exon1:c.G2218T:p.D740Y	.	.	.	.	.	.	.	.	.	.	.	4043944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00622863995656	.	.	.	.	.	.	.	.	.	.	.	.	.	rs867069360	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0.0002	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.116	0.28395	T	0.075	0.42794	T	0.004	0.13644	B	0.003	0.08700	B	0.179861	0.17133	N	0.473166	1	0.81001	D	1.385	0.34509	L	0.72	0.50976	T	-0.2	0.10136	N	0.211	0.25253	-1.0092	0.27167	T	0.091	0.34901	T	10	0.14185587	0.26949	T	0.006229	0.16347	T	0.102	0.29158	.	.	0.702099602486	0.69951	0.5870282005722526	0.58632	0.963660069342	0.73089	0.406212210655	0.25932	T	0.011534	0.10280	T	-0.128552	0.31730	T	-0.422432	0.30796	T	0.813677191734314	0.47310	D	0.727827	0.34232	T	0.116265886	0.27425	0.1315634	0.31589	0.116265886	0.27425	0.1315634	0.31588	-5.668	0.43408	T	.	.	0.141	0.41218	B	.;.	.;.	3.649721	0.51790	23.1	0.95068654794875007	0.26106	0.86589	0.45901	D	AEFDGBCI	0.533834	0.55312	D	-0.290826875056158	0.29502	1.636589	-0.113456932607951	0.34846	2.009133	0.999999996848466	0.74766	0.59774	0.34471	0	0.491552	0.07993	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.93	4.93	0.64394	3.360000	0.52020	.	.	-0.106000	0.15538	0.788000	0.29570	1.000000	0.68203	0.428000	0.27405	0.0:0.0:1.0:0.0	13.491	0.60852	727	0.54702	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1866.43	82	chr5	141491458	.	G	T	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.25;DP=692;ExcessHet=0;FS=0.593;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.327;SOR=0.754	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr5	141658365	141658365	C	T	exonic	ARAP3	.	nonsynonymous SNV	ARAP3:NM_022481:exon25:c.G3526A:p.E1176K	.	.	.	.	.	.	.	.	1.0000	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.308354552984	.	.	2.505e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs367564510	1.095e-05	1.094e-05	2.725e-06	1.927e-05	0.0002	6.49e-06	5.25e-06	8.891e-05	7.058e-05	0	0	0	0	0	0	1.799e-06	1.659e-05	0.0002	6.575e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.01	0.67890	D	0.996	0.68779	D	0.895	0.63489	P	0.000000	0.84330	D	0.000000	0.999855	0.81001	D	2.8	0.81625	M	-1.42	0.80645	T	-3.71	0.71042	D	0.813	0.81063	0.339	0.88163	D	0.676	0.88785	D	9	0.85053706	0.84230	D	0.308355	0.91106	D	0.794	0.93227	0.701	0.83777	0.834081589375	0.83250	0.8838637848592048	0.88354	1.07343801267	0.76901	0.706293821335	0.68056	T	0.14359	0.56649	T	0.196059	0.73525	D	0.303528	0.88360	D	0.97330766916275	0.70042	D	0.968903	0.91204	D	0.6628122	0.76049	0.5779447	0.75543	0.6628122	0.76050	0.5779447	0.75544	-10.744	0.78449	D	.	.	0.739	0.74574	P	.;.;.;.	.;.;.;.	5.949094	0.94155	33	0.99910378098378783	0.98022	0.15155	0.18771	N	ALL	0.919449	0.88999	D	0.787653025420602	0.85328	8.543037	0.773403321150271	0.87891	9.381363	1.0	0.98316	0.675202	0.55065	0	0.48864	0.07623	0	0.702456	0.68683	0	0.756233	0.99697	0	.	.	5.88	5.88	0.94564	7.102000	0.76653	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:1.0:0.0:0.0	17.994	0.89098	760	0.50470	Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain;Ras-associating (RA) domain|Ras-associating (RA) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1448.43	33	chr5	141658365	.	C	T	1448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.063;DP=424;ExcessHet=0;FS=11;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.633;SOR=0.206	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1460,0,1608	9	0	1	0
chr5	141934551	141934551	G	T	exonic	DELE1	.	nonsynonymous SNV	DELE1:NM_001142603:exon10:c.G1114T:p.A372S,DELE1:NM_014773:exon10:c.G1114T:p.A372S	.	.	.	.	.	.	.	.	.	.	.	3956573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0570429832277	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs752024756	7.524e-06	7.524e-06	2.722e-06	1.238e-05	9.275e-05	4.04e-06	2.95e-06	4.578e-05	3.272e-05	0	0	0	0	0	0	2.698e-06	0	9.275e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.032	0.53788	D	0.999	0.77913	D	0.998	0.88582	D	0.000050	0.53742	D	0.121276	0.858663	0.35348	D	.	.	.	-1.06	0.76819	T	-1.96	0.45404	N	0.605	0.62611	-0.5331	0.67424	T	0.263	0.63405	T	10	0.7683169	0.76880	D	0.057043	0.66824	D	0.512	0.79094	0.77	0.89688	0.81245491614	0.81069	0.39982493710148864	0.39897	0.655891504161	0.58620	0.507063031197	0.39812	T	0.039131	0.25213	T	0.0111448	0.53182	T	-0.0402398	0.67685	D	0.649352359817395	0.38434	D	0.767723	0.43637	T	0.19763306	0.41636	0.16106665	0.37483	0.19763306	0.41636	0.16106665	0.37482	-4.307	0.28274	T	.	.	0.277	0.51014	B	.;.;.	.;.;.	4.930671	0.81284	27.5	0.99594588170093257	0.73807	0.91585	0.53837	D	AEFDBHCIJ	0.649186	0.62374	D	0.389425482146061	0.60847	4.278443	0.45548131028996	0.65069	4.777423	0.99999998888356	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	5.54	0.82907	5.711000	0.68052	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	14.993	0.71057	888	0.27761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	942.43	33	chr5	141934551	.	G	T	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.291;DP=379;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.458;SOR=0.528	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1258	9	0	1	0
chr5	145820007	145820007	C	T	exonic	PRELID2	.	nonsynonymous SNV	PRELID2:NM_182960:exon3:c.G145A:p.G49R,PRELID2:NM_205846:exon3:c.G145A:p.G49R,PRELID2:NM_138492:exon4:c.G58A:p.G20R	.	440	1081	1	0	0	1	0.000462321	.	.	.	4049721	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.288	0.029079870744	.	0.000199681	0.0001	0	0.0004	0	0	9.028e-05	0	0.0004	0.0001229	19	154602	rs557932254	3.349e-05	3.421e-05	2.498e-05	4.208e-05	0.0009	2.594e-05	2.294e-05	0.0003	0.0002	3.139e-05	0.0003	0	0	0	0.0009	9.1e-06	0.0001	0.0002	3.29e-05	3.284e-05	2.574e-05	4.04e-05	0.0002	1.262e-05	7.99e-06	4.88e-06	1.83e-06	2.413e-05	0	6.544e-05	0	0	0	0	2.942e-05	0	0.0002	0.004	0.65419	D	0.0	0.92824	D	0.959	0.55135	D	0.773	0.56974	P	0.000002	0.62929	D	0.000000	0.99974	0.48716	D	1.955	0.52871	M	1.73	0.26445	T	-4.13	0.89947	D	0.887	0.90363	-1.0679	0.09880	T	0.109	0.39344	T	10	0.8177788	0.81003	D	0.02908	0.51651	D	0.288	0.60691	0.798	0.91802	0.339074221408	0.33521	0.5490892485044587	0.54834	0.444476728638	0.44356	0.607520401478	0.53965	T	0.09666	0.39870	T	-0.0265861	0.47911	T	0.032902	0.72467	D	0.274794770298466	0.23951	T	0.906109	0.66926	D	0.42935735	0.62710	0.43482193	0.66989	0.42935735	0.62710	0.43482193	0.66989	-6.543	0.52915	T	.	.	0.442	0.61827	A	.;.;.;.	.;.;.;.	4.238937	0.64256	24.7	0.99821133291397779	0.90414	0.90509	0.51744	D	AEFBI	0.679281	0.64336	D	0.511195542151971	0.67751	5.123582	0.551511810538633	0.71501	5.66465	0.999920791021681	0.46280	0.651	0.46895	0	0.670034	0.63936	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.3	5.3	0.74745	4.290000	0.58812	7.559000	0.60438	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	16.236	0.82200	566	0.70798	PRELI/MSF1 domain|PRELI/MSF1 domain;.;.;PRELI/MSF1 domain|PRELI/MSF1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	939.43	53	chr5	145820007	.	C	T	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=447;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=1.47;SOR=0.551	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	9	0	1	0
chr5	146114228	146114228	C	T	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317964:exon31:c.G3271A:p.E1091K,LARS1:NM_001317965:exon31:c.G3247A:p.E1083K,LARS1:NM_016460:exon31:c.G3328A:p.E1110K,LARS1:NM_020117:exon32:c.G3409A:p.E1137K	.	437	1082	3	0	0	3	0.0013844	.	.	.	368239	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.045	0.0207254352849	7.7e-05	0.000199681	0.0001	0	8.64e-05	0	0	4.497e-05	0	0.0007	0.00011	17	154602	rs201386463	9.304e-05	9.371e-05	5.037e-05	0.0001	0.0008	8.025e-05	7.518e-05	0.0006	0.0006	5.974e-05	0	0	0	0	0	5.756e-05	3.312e-05	0.0008	0.0001	0.0001	0.0001	0.0001	0.0006	8.179e-05	6.733e-05	0.0002	9.904e-05	4.825e-05	0	0	0	0	0	0	0.0002	0	0.0006	0.328	0.13219	T	0.239	0.32249	T	0.005	0.12996	B	0.004	0.10090	B	0.013832	0.28718	N	0.404147	0.983937	0.40078	D	1.95	0.52479	M	-0.04	0.63240	T	-0.8	0.22078	N	0.249	0.32148	-0.7613	0.57334	T	0.188	0.53827	T	10	0.0733954	0.11083	T	0.020725	0.43381	T	0.045	0.12272	.	.	0.579527763308	0.57622	0.4832008114554515	0.48240	0.248207255185	0.27377	0.382381260395	0.22594	T	0.006611	0.06037	T	-0.348428	0.04826	T	-0.351256	0.39062	T	0.0489223454828262	0.05310	T	0.951005	0.81346	D	0.110197194	0.26050	0.097768046	0.23283	0.11858892	0.27938	0.11044969	0.26631	-3.222	0.12751	T	.	.	0.103	0.20896	B	.;.;.	.;.;.	3.425855	0.47591	22.5	0.99396205135691418	0.62565	0.95521	0.65052	D	AEFBI	0.375264	0.45986	N	-0.0146158910385933	0.41194	2.459677	0.0984352108504159	0.44470	2.728169	0.903914506169902	0.26165	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	4.63	0.57175	4.715000	0.61600	4.855000	0.45413	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	0.0:0.9238:0.0:0.0762	13.395	0.60291	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1458.43	33	chr5	146114228	.	C	T	1458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=428;ExcessHet=0;FS=7.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=2.4;SOR=1.408	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	9	0	1	0
chr5	146171959	146171959	T	C	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317965:exon3:c.A83G:p.K28R,LARS1:NM_001317964:exon4:c.A245G:p.K82R,LARS1:NM_020117:exon4:c.A245G:p.K82R	.	437	1074	9	2	0	13	0.00601573	.	.	.	141780	not_provided|Infantile_liver_failure_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.349	.	0.0037	0.00299521	0.0050	0.0012	0.0027	0.0001	0.0015	0.0055	0.0066	0.0111	0.0050517	781	154602	rs112954500	0.0057	0.0057	0.0055	0.0059	0.0103	0.0056	0.0056	0.0097	0.0095	0.0007	0.0031	0.0019	2.522e-05	0.0020	0.0061	0.0061	0.0060	0.0103	0.0038	0.0038	0.0041	0.0036	0.0075	0.0036	0.0035	0.0055	0.0053	0.0011	0	0.0033	0.0035	0	0.0025	0.0034	0.0060	0.0033	0.0075	0.175	0.22486	T	0.115	0.36901	T	0.004	0.12183	B	0.09	0.29851	B	0.000000	0.84330	D	0.045928	0.999934	0.81001	D	1.87	0.49600	L	-1.05	0.76690	T	-2.2	0.49519	N	0.582	0.72925	-0.3456	0.73681	T	0.322	0.69064	T	10	0.010404259	0.00232	T	.	.	.	0.349	0.67049	.	.	0.714101545948	0.71159	0.6134425457156343	0.61276	0.185243997901	0.20827	0.564296662807	0.47874	T	0.175937	0.52570	T	-0.369996	0.03594	T	-0.296431	0.45101	T	0.0155940450330543	0.00356	T	0.79572	0.43953	T	0.22997892	0.45745	0.19366084	0.42948	0.26109782	0.49167	0.18891732	0.42207	-9.095	0.68305	D	0.2299780390205727	0.31114	0.071	0.04889	B	.;.;.	.;.;.	3.251490	0.44425	21.9	0.99693564151083824	0.80112	0.98629	0.84891	D	AEFBI	0.457668	0.50901	N	0.21524862825499	0.51938	3.371338	0.32198833956274	0.56833	3.847441	0.999738692345606	0.42341	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.678000	0.61331	7.691000	0.65788	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.680	0.77120	855	0.34697	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.000000	0.05	804.43	35	chr5	146171959	.	T	C	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=359;ExcessHet=0;FS=1.022;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-0.962;SOR=0.903	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	9	0	1	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	127.13	71	chr5	146286009	.	G	C	127.13	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.543;DP=724;ExcessHet=0.7463;FS=104.377;InbreedingCoeff=-0.2483;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:47,0:47:0:.:.:0,0,699:.	4	0	3	3
chr5	146516045	146516045	A	C	exonic	GPR151	.	nonsynonymous SNV	GPR151:NM_194251:exon1:c.T69G:p.F23L	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.00776105164196	0.0005	0.000599042	0.0007	0	0.0013	0	0	0.0007	0.0011	0.0009	0.000718	111	154602	rs144066680	0.0007	0.0007	0.0007	0.0007	0.0215	0.0007	0.0007	0.0184	0.0173	0.0008	0.0014	0.0011	0	3.747e-05	0.0215	0.0005	0.0015	0.0015	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0008	0.0006	0.0002	0	0.0012	0.0009	0	0	0.0204	0.0007	0.0043	0.0004	0.01	0.56456	D	0.021	0.58089	D	0.982	0.60036	D	0.661	0.52837	P	0.001536	0.38731	N	0.233607	0.832065	0.34933	D	2.34	0.67151	M	1.24	0.36691	T	-0.78	0.21644	N	0.392	0.43320	-0.9366	0.43149	T	0.112	0.40052	T	10	0.040843636	0.02687	T	0.007761	0.20589	T	0.218	0.51265	0.62	0.75461	0.820605682609	0.81891	0.7223126397742784	0.72175	0.154179888537	0.17409	0.652527451515	0.60344	T	0.107698	0.42012	T	-0.313783	0.07419	T	-0.264037	0.48420	T	0.0500595988291035	0.05511	T	0.643236	0.25495	T	0.1056631	0.24982	0.098582245	0.23509	0.1056631	0.24982	0.098582245	0.23508	-2.516	0.05891	T	.	.	0.884	0.81728	P	.	.	2.645456	0.34434	19.63	0.99802823926362716	0.88728	0.87375	0.46895	D	AEFBCI	0.264022	0.38144	N	0.355397155646313	0.59025	4.078686	0.388876505298521	0.60879	4.280566	0.850393776979829	0.25033	0.616025	0.39624	0	0.55458	0.17659	0	0.574621	0.27300	0	0.664235	0.64389	0	.	.	5.9	4.75	0.59954	2.373000	0.43920	1.104000	0.24096	0.691000	0.84096	1.000000	0.71638	0.991000	0.31484	0.990000	0.65344	0.9237:0.0:0.0763:0.0	10.544	0.44236	920	0.19381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.016304	0.029240	0.050000	0.025862	0.003049	0.003788	0.05	1463.43	117	chr5	146516045	.	A	C	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.641;DP=464;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.412;SOR=0.574	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr5	147828053	147828053	G	A	exonic	SPINK1	.	nonsynonymous SNV	SPINK1:NM_001379610:exon3:c.C163T:p.P55S,SPINK1:NM_001354966:exon4:c.C163T:p.P55S,SPINK1:NM_003122:exon4:c.C163T:p.P55S	Pancreatitis, hereditary, Autosomal dominant;Tropical calcific pancreatitis, Autosomal recessive, Autosomal dominant	1	1482	37	2	0	41	0.0136439	.	.	YES	45439	not_provided|Tropical_pancreatitis|not_specified|Hereditary_pancreatitis|SPINK1-related_disorder	MedGen:C3661900|MONDO:MONDO:0011986,MedGen:C1842402,OMIM:608189,Orphanet:103918|MedGen:CN169374|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0125905751832	0.0033	0.00299521	0.0046	0.0014	0.0020	0.0001	0.0022	0.0060	0.0034	0.0064	0.0045084	697	154602	rs111966833	0.0062	0.0062	0.0063	0.0061	0.0070	0.0061	0.0061	0.0068	0.0068	0.0009	0.0024	0.0010	5.053e-05	0.0030	0.0061	0.0070	0.0070	0.0067	0.0037	0.0037	0.0038	0.0037	0.0061	0.0035	0.0034	0.0056	0.0054	0.0010	0	0.0031	0.0012	0	0.0024	0.0034	0.0061	0.0033	0.0054	0.753	0.05468	T	0.704	0.05642	T	0.012	0.16265	B	0.006	0.12133	B	0.061132	0.02141	N	1.864520	1	0.08975	N	.	.	.	-0.67	0.72458	T	-0.77	0.30140	N	0.06	0.03175	-0.9946	0.31405	T	0.080	0.31795	T	9	0.010206819	0.00228	T	0.012591	0.31297	T	0.119	0.33137	.	.	0.154104182512	0.14974	0.7319575142654835	0.73140	0.0190001024195	0.01855	0.266677975655	0.05711	T	0.11976	0.44151	T	-0.573726	0.00210	T	-0.594005	0.13320	T	0.00753080689292876	0.00087	T	0.834017	0.50309	T	0.08077794	0.18526	0.06412293	0.12806	0.066008665	0.14161	0.04189774	0.04867	-2.293	0.04517	T	0.07070805146391029	0.02753	0.129	0.27583	B	.;.	.;.	-3.786930	0.00002	0.001	0.13596742694646741	0.00273	0.00211	0.01201	N	AEFBI	0.056363	0.10414	N	-2.20527475759622	0.00075	0.003192724	-2.37631917493808	0.00044	0.001956046	0.999999999999817	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.79	0.00411	-7.042000	0.00058	-20.000000	0.00162	-0.746000	0.03629	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0856:0.3198:0.4031:0.1914	5.027	0.13732	488	0.76887	Kazal domain|Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	681.43	33	chr5	147828053	.	G	A	681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.353;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.044;SOR=0.665	GT:AD:DP:GQ:PL	0/1:46,34:80:99:693,0,1001	9	0	1	0
chr5	148100493	148100493	A	C	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon13:c.A1132C:p.K378Q,SPINK5:NM_001127699:exon13:c.A1132C:p.K378Q,SPINK5:NM_006846:exon13:c.A1132C:p.K378Q	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	721288	Ichthyosis_linearis_circumflexa|not_provided|Netherton_syndrome	Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.00402199626562	0.0004	0.000399361	0.0009	0	0.0003	0	0	0.0015	0	0.0005	0.0008215	127	154602	rs180696183	0.0007	0.0007	0.0007	0.0007	0.0006	0.0007	0.0007	0.0005	0.0005	2.991e-05	0.0005	0.0103	0	3.745e-05	0.0005	0.0006	0.0009	0.0005	0.0006	0.0006	0.0007	0.0006	0.0009	0.0005	0.0005	0.0006	0.0004	4.813e-05	0	0.0009	0.0112	0	9.416e-05	0	0.0005	0.0024	0.0002	0.346	0.14546	T	0.083	0.43913	T	0.948	0.53620	P	0.662	0.52860	P	0.725753	0.09897	N	0.834455	1	0.08975	N	1.485	0.37223	L	3.24	0.06845	T	-1.03	0.28497	N	0.127	0.17416	-0.9944	0.31459	T	0.023	0.09832	T	10	0.0051361322	0.00111	T	0.004022	0.09556	T	0.154	0.40340	.	.	0.230578612272	0.22657	0.31357427667710336	0.31270	0.376120761263	0.39054	0.298448562622	0.10170	T	0.104422	0.41396	T	-0.536014	0.00354	T	-0.641281	0.09576	T	0.0234241331571304	0.01074	T	0.10319	0.01049	T	0.07486337	0.16830	0.042472124	0.05065	0.08480792	0.19644	0.04110768	0.04597	-6.081	0.46952	T	0.23810191242876905	0.32248	0.146	0.34116	B	.;.;.;.	.;.;.;.	1.411260	0.18263	13.64	0.93947337820364407	0.24005	0.01808	0.05634	N	AEFGBI	0.045896	0.07560	N	-0.582262187868424	0.19483	1.020075	-0.674777406870752	0.17593	0.936136	0.0126359290224743	0.12354	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.69	0.63	0.16865	0.676000	0.24927	-0.196000	0.10991	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.5309:0.4691:0.0:0.0	10.150	0.41966	843	0.36859	.;.;Kazal domain|Kazal domain;Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1947.43	160	chr5	148100493	.	A	C	1947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.687;DP=1136;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=1.39;SOR=0.681	GT:AD:DP:GQ:PL	0/0:174,0:174:99:0,120,1800	9	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1	2081.14	67	chr5	149621740	.	G	A	2081.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.29;DP=438;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=-0.11;SOR=0.652	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	8	0	2	0
chr5	149980428	149980428	C	T	exonic	SLC26A2	.	nonsynonymous SNV	SLC26A2:NM_000112:exon3:c.C835T:p.R279W	Achondrogenesis Ib, Autosomal recessive;Atelosteogenesis II, Autosomal recessive;De la Chapelle dysplasia, Autosomal recessive;Diastrophic dysplasia, Autosomal recessive;Diastrophic dysplasia, broad bone-platyspondylic variant, Autosomal recessive;Epiphyseal dysplasia, multiple, 4, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	YES	19128	Inborn_genetic_diseases|3MC_syndrome_2|Sulfate_transporter-related_osteochondrodysplasia|Diastrophic_dysplasia|Atelosteogenesis_type_II|Multiple_epiphyseal_dysplasia_type_4|Achondrogenesis,_type_IB|not_provided|Connective_tissue_disorder|SLC26A2-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009927,MedGen:C0796279,OMIM:265050,Orphanet:293843,Orphanet:2998|MedGen:CN120497|MONDO:MONDO:0009107,MedGen:C0220726,OMIM:222600,Orphanet:628|MONDO:MONDO:0009727,MedGen:C1850554,OMIM:256050,Orphanet:56304|MONDO:MONDO:0009189,MedGen:C1847593,OMIM:226900,Orphanet:93307|MONDO:MONDO:0010966,MedGen:C0265274,OMIM:600972,Orphanet:932,Orphanet:93298|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN239404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.917	0.319024439216	0.0012	0.00139776	0.0008	0.0002	0.0005	0	0.0002	0.0013	0	6.058e-05	0.0010543	163	154602	rs104893915	0.0015	0.0015	0.0015	0.0014	0.0017	0.0014	0.0014	0.0017	0.0016	0.0002	0.0011	0.0021	2.519e-05	0.0002	0.0002	0.0017	0.0012	3.478e-05	0.0011	0.0011	0.0010	0.0011	0.0026	0.0009	0.0009	0.0019	0.0017	0.0002	0	0.0026	0.0029	0	0.0002	0	0.0015	0.0019	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	A	3.515	0.92918	H	-3.31	0.93835	D	-7.43	0.94843	D	0.897	0.89689	1.074	0.98695	D	0.924	0.97476	D	9	0.5513889	0.64275	D	0.319024	0.91417	D	0.917	0.97852	.	.	0.99485298098	0.99480	0.8936150543626734	0.89331	0.328214677008	0.34941	0.608687281609	0.54130	T	0.880827	0.97501	D	0.173707	0.71463	D	0.471193	0.94020	D	0.48882645368576	0.32221	T	0.966603	0.87805	D	0.96013147	0.97293	0.94549376	0.98121	0.95597315	0.96872	0.9510324	0.98462	-12.298	0.86272	D	0.8209181077385214	0.89393	0.378	0.58322	A	.	.	5.103656	0.85284	28.6	0.99903402979359701	0.97502	0.87833	0.47510	D	AEFBI	0.669480	0.63690	D	0.779539363280535	0.84809	8.392989	0.689766706484121	0.81603	7.565086	0.999999973246893	0.74766	0.706298	0.61202	0	0.667123	0.63270	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	3.216000	0.50878	6.022000	0.52807	0.549000	0.26987	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.0:1.0:0.0:0.0	18.611	0.91239	780	0.47616	SLC26A/SulP transporter domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2641.43	39	chr5	149980428	.	C	T	2641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=525;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=1.36;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1276	9	0	1	0
chr5	150298468	150298468	G	T	exonic	ARSI	.	nonsynonymous SNV	ARSI:NM_001012301:exon2:c.C456A:p.F152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.714	0.205618670655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.44694	T	0.051	0.55759	T	0.237	0.30795	B	0.14	0.33554	B	0.000000	0.84330	D	0.000000	0.999929	0.51308	D	1.545	0.39105	L	-4.97	0.98468	D	-3.77	0.71397	D	0.843	0.86191	0.630	0.92288	D	0.877	0.95921	D	10	0.88748795	0.88080	D	0.205619	0.86995	D	0.714	0.89831	0.794	0.91511	0.884139936889	0.88300	0.926654299910491	0.92643	0.699425841073	0.61035	0.814115524292	0.84124	D	0.84243	0.96338	D	0.365883	0.87697	D	0.287789	0.87539	D	0.979547441005707	0.72886	D	0.912209	0.68816	D	0.39090672	0.60096	0.3636952	0.61751	0.39090672	0.60097	0.3636952	0.61751	-7.191	0.55416	T	.	.	0.992	0.94382	P	.;.;.	.;.;.	3.329107	0.45818	22.2	0.99505786569190302	0.68322	0.93634	0.58756	D	AEFBI	0.634753	0.61451	D	-0.0796647352496171	0.38284	2.239974	-0.0117018080072553	0.39186	2.31958	0.99993046428096	0.46732	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.58	2.33	0.27981	3.658000	0.54221	2.929000	0.35606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2231:0.0:0.7769:0.0	8.821	0.34182	814	0.42100	Sulfatase, N-terminal;.;Sulfatase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	400.43	105	chr5	150298468	.	G	T	400.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.616;DP=1012;ExcessHet=0;FS=99.153;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.46;ReadPosRankSum=1.4;SOR=6.994	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	9	0	1	0
chr5	150372183	150372200	AGTGAGGAGGGATCTGAA	-	exonic	TCOF1	.	nonframeshift deletion	TCOF1:NM_001008657:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001135243:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001135244:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001195141:exon7:c.817_834del:p.G276_E281del,TCOF1:NM_001371623:exon7:c.817_834del:p.G276_E281del	Treacher Collins syndrome 1, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	425627	not_provided|not_specified|Treacher_Collins_syndrome_1|TCOF1-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0028	0.000998403	0.0018	0.0003	0.0013	0	0.0014	0.0024	0.0012	0.0018	0.0002305	6	26028	rs528897827	0.0037	0.0038	0.0039	0.0036	0.0045	0.0037	0.0036	0.0044	0.0043	0.0007	0.0015	0.0001	2.519e-05	0.0016	0.0005	0.0045	0.0031	0.0015	0.0026	0.0026	0.0025	0.0026	0.0049	0.0024	0.0023	0.0040	0.0036	0.0008	0.0022	0.0049	0	0	0.0032	0	0.0035	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1346.39	33	chr5	150372182	.	TAGTGAGGAGGGATCTGAA	T	1346.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.652;DP=404;ExcessHet=0;FS=0.828;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=0.196;SOR=0.569	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	9	0	1	0
chr5	150896584	150896584	C	T	exonic	ZNF300	.	nonsynonymous SNV	ZNF300:NM_001172832:exon5:c.G547A:p.G183R,ZNF300:NM_052860:exon6:c.G655A:p.G219R,ZNF300:NM_001172831:exon7:c.G703A:p.G235R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00205990877771	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177573064	4.106e-06	4.788e-06	5.446e-06	2.751e-06	3.479e-05	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.994e-07	3.312e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.55530	D	0.077	0.45530	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	2.41	0.69639	M	3.16	0.07711	T	-2.38	0.61580	N	0.096	0.08088	-0.9853	0.33760	T	0.020	0.08313	T	9	0.107470185	0.19965	T	0.00206	0.03775	T	0.024	0.04979	0.416	0.45544	0.171388866994	0.16791	0.04341072113041024	0.04286	0.174350911685	0.19631	0.245990812778	0.03358	T	0.135794	0.46781	T	-0.354233	0.04467	T	-0.649754	0.08971	T	0.0729279337944176	0.09057	T	0.0734926	0.00603	T	0.11717097	0.27626	0.17136726	0.39314	0.11717097	0.27626	0.17136726	0.39313	-3.155	0.11939	T	.	.	0.110	0.21087	B	.;.;.;.	.;.;.;.	1.343824	0.17504	13.20	0.9320810394829494	0.22880	0.00012	0.00170	N	AEFBCI	0.038951	0.05587	N	-0.842460753920006	0.12236	0.5951972	-0.896259937212975	0.12181	0.6251603	4.35269815743156E-4	0.06970	0.651	0.46895	0	0.588015	0.36545	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	3.04	1.13	0.19758	0.848000	0.27362	-0.113000	0.11807	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.285000	0.24139	0.0:0.7836:0.0:0.2164	7.379	0.26019	648	0.63242	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1790.43	35	chr5	150896584	.	C	T	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.826;DP=472;ExcessHet=0;FS=1.23;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.097;SOR=0.585	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	9	0	1	0
chr5	151293424	151293424	G	A	exonic	SLC36A3	.	nonsynonymous SNV	SLC36A3:NM_001145017:exon4:c.C344T:p.T115M,SLC36A3:NM_181774:exon4:c.C344T:p.T115M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00282923984546	7.7e-05	0.00119808	0.0010	0.0001	9.124e-05	0.0043	0.0048	0.0007	0.0012	0.0002	0.0008021	124	154602	rs142591776	0.0005	0.0005	0.0005	0.0004	0.0047	0.0004	0.0004	0.0042	0.0040	0	0	0	0.0047	0.0044	0.0005	0.0002	0.0008	0.0002	0.0007	0.0007	0.0005	0.0009	0.0046	0.0006	0.0005	0.0032	0.0027	9.624e-05	0	0	0	0.0046	0.0030	0	0.0005	0.0005	0.0008	0.056	0.38185	T	0.143	0.36765	T	0.001	0.15535	B	0.008	0.13708	B	0.020822	0.26957	N	0.429701	0.980533	0.26757	N	-1.935	0.00224	N	3.64	0.04309	T	0.4	0.03889	N	0.168	0.17828	-0.9344	0.43485	T	0.006	0.01870	T	10	0.00786376	0.00179	T	0.002829	0.05927	T	0.038	0.09825	.	.	0.0716867268079	0.06686	0.2615711461353809	0.26070	0.034674835795	0.03646	0.261710524559	0.05096	T	6.25E-4	0.00264	T	-0.66694	0.00057	T	-0.730797	0.04291	T	0.0445402809515419	0.04519	T	0.828317	0.49240	T	0.026175035	0.01642	0.053229872	0.08925	0.026175035	0.01642	0.053229872	0.08925	-2.817	0.09925	T	.	.	0.095	0.25721	B	.;.	.;.	1.151594	0.15400	11.82	0.88946474262090625	0.18384	0.05391	0.11257	N	AEFBI	0.050375	0.08799	N	-0.684255359861289	0.16470	0.8394238	-0.522965879021525	0.21530	1.165152	0.113572004042671	0.16711	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.2	1.35	0.21078	2.192000	0.42281	2.103000	0.30614	0.618000	0.50648	0.994000	0.38300	0.001000	0.17328	0.300000	0.24500	0.8577:0.0:0.1423:0.0	8.213	0.30654	636	0.64483	Amino acid transporter, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2055.43	35	chr5	151293424	.	G	A	2055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.211;DP=437;ExcessHet=0;FS=0.766;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.72;ReadPosRankSum=1.48;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	9	0	1	0
chr5	151545407	151545407	A	G	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon10:c.T5720C:p.I1907T	.	436	1075	10	1	0	12	0.00555042	.	.	.	1936468	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.670	.	0.0040	0.00459265	0.0053	0.0012	0.0016	0.0014	0.0045	0.0070	0	0.0062	0.0049935	772	154602	rs150700679	0.0048	0.0048	0.0047	0.0049	0.0062	0.0047	0.0047	0.0057	0.0056	0.0006	0.0020	0.0003	0.0016	0.0038	0.0040	0.0052	0.0040	0.0062	0.0034	0.0034	0.0034	0.0034	0.0052	0.0031	0.0030	0.0048	0.0046	0.0010	0.0066	0.0014	0	0.0017	0.0041	0.0170	0.0052	0.0043	0.0044	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000035	0.55875	D	0.000000	0.999999	0.58761	D	4.085	0.97236	H	-0.06	0.63568	T	-4.44	0.77637	D	0.84	0.83576	0.259	0.86898	D	0.464	0.79279	T	10	0.023783743	0.00633	T	.	.	.	0.670	0.87771	.	.	0.869812394341	0.86854	0.9105959517069652	0.91033	0.590464889285	0.54506	0.56543970108	0.48034	T	0.536244	0.84040	D	-0.106823	0.35293	T	0.0770862	0.75382	D	0.0645398705542823	0.07863	T	0.849515	0.53247	T	0.6571095	0.75744	0.6362872	0.78764	0.6571095	0.75745	0.6362872	0.78765	-11.223	0.80867	D	.	.	0.683	0.72275	P	.	.	4.418024	0.68405	25.2	0.99826867231983962	0.90939	0.97670	0.76297	D	AEFBCI	0.862476	0.78077	D	0.874747787824874	0.90470	10.41802	0.773415405742847	0.87891	9.381685	0.999999851143436	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.88	4.88	0.63131	9.249000	0.94640	9.413000	0.80714	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	14.480	0.67152	889	0.27310	Cadherin-like	.	.	.	.	rs150700679	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.05	1668.43	105	chr5	151545407	.	A	G	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.084;DP=965;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.02;SOR=0.738	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	9	0	1	0
chr5	151566338	151566338	T	A	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon2:c.A2594T:p.K865M	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.01605904716	.	.	9.884e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs746686953	3.762e-05	3.762e-05	2.314e-05	5.225e-05	0.0005	2.96e-05	2.656e-05	0.0004	0.0004	0	0	0	0	0	0	5.396e-06	3.311e-05	0.0005	3.284e-05	3.281e-05	1.285e-05	5.373e-05	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0009	0.0002	0.069	0.35537	T	0.017	0.60337	D	0.243	0.30970	B	0.119	0.32162	B	0.000059	0.53742	D	0.080004	0.746916	0.33885	D	0.61	0.15665	N	0.67	0.52187	T	-1.81	0.42575	N	0.528	0.55713	-0.9628	0.38645	T	0.084	0.32986	T	10	0.12702096	0.24153	T	0.016059	0.37127	T	0.132	0.35948	0.559	0.67821	0.690747205812	0.68809	0.5602822626900289	0.55955	0.279295419156	0.30412	0.483055919409	0.36477	T	0.080491	0.36376	T	-0.358238	0.04230	T	-0.388197	0.34762	T	0.100391877463781	0.12401	T	0.560744	0.19617	T	0.086849034	0.20202	0.08872752	0.20706	0.086849034	0.20202	0.08872752	0.20705	-4.329	0.28582	T	.	.	0.125	0.26419	B	.	.	2.542574	0.32895	19.18	0.98562905207379914	0.42999	0.78731	0.38888	D	AEFGBCI	0.163615	0.28991	N	-0.121037213171069	0.36477	2.109007	0.032711803798687	0.41244	2.474631	0.999991914617467	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.67	4.52	0.54797	3.474000	0.52893	0.685000	0.20714	-0.157000	0.11712	0.956000	0.33378	0.621000	0.25816	0.991000	0.66497	0.136:0.0717:0.0:0.7923	6.667	0.22237	904	0.23766	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2076.43	134	chr5	151566338	.	T	A	2076.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.655;DP=1387;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-0.141;SOR=0.722	GT:AD:DP:GQ:PL	0/0:189,0:189:99:0,120,1800	9	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	695.79	120	chr5	154834880	.	G	C	695.79	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=1265;ExcessHet=2.8389;FS=294.497;InbreedingCoeff=-0.4324;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.554;SOR=10.414	GT:AD:DP:GQ:PL	./.:75,0:75:0:0,0,1399	3	0	5	2
chr5	154905423	154905423	T	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon17:c.A2446G:p.K816E,GEMIN5:NM_015465:exon17:c.A2449G:p.K817E	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0459097469011	.	.	8.246e-06	9.688e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762383080	9.599e-06	1.163e-05	5.458e-06	1.378e-05	0.0005	5.57e-06	4.36e-06	0.0001	7.557e-05	0	2.247e-05	0	2.526e-05	0	0.0005	6.306e-06	0	2.336e-05	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.17	0.22833	T	0.064	0.44905	T	0.988	0.62325	D	0.76	0.56425	P	0.000031	0.55875	D	0.121494	0.768069	0.29467	N	2.42	0.70002	M	-0.81	0.73949	T	-0.14	0.09135	N	0.659	0.66873	-0.3251	0.74278	T	0.418	0.76449	T	10	0.6870242	0.71624	D	0.04591	0.62205	D	0.361	0.68141	0.415	0.45380	0.764286150549	0.76213	0.1706679554886014	0.16986	0.163586975449	0.18448	0.456630110741	0.32849	T	0.003213	0.02616	T	-0.0518712	0.44162	T	-0.130139	0.60960	T	0.302860349416733	0.25121	T	0.736726	0.35329	T	0.08711296	0.20272	0.1204303	0.29063	0.08711296	0.20272	0.1204303	0.29062	-3.322	0.14022	T	.	.	0.09	0.12607	B	.	.	3.882855	0.56447	23.7	0.99844968157005887	0.92489	0.91031	0.52725	D	AEFBI	0.138822	0.26023	N	0.48371340456182	0.66139	4.911616	0.49632639729583	0.67746	5.125458	0.996484076098522	0.34777	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.63	5.63	0.86108	3.027000	0.49381	4.824000	0.45142	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1715:0.0:0.0:0.8285	9.256	0.36747	904	0.23766	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2264.43	160	chr5	154905423	.	T	C	2264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.786;DP=461;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.101;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	9	0	1	0
chr5	154917072	154917072	G	C	exonic	GEMIN5	.	nonsynonymous SNV	GEMIN5:NM_001252156:exon13:c.C1778G:p.P593R,GEMIN5:NM_015465:exon13:c.C1781G:p.P594R	.	431	1087	4	0	0	4	0.00183655	.	.	.	2825472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.401	0.0795522734574	0.0028	0.000998403	0.0026	0.0012	0.0009	0.0001	0.0014	0.0035	0.0022	0.0029	0.0024385	377	154602	rs142530738	0.0033	0.0033	0.0033	0.0033	0.0037	0.0032	0.0032	0.0036	0.0035	0.0004	0.0011	0.0058	0.0001	0.0018	0.0023	0.0037	0.0031	0.0031	0.0021	0.0021	0.0023	0.0019	0.0029	0.0019	0.0018	0.0026	0.0025	0.0007	0	0.0029	0.0058	0	0.0013	0	0.0029	0.0028	0.0010	0.015	0.52492	D	0.02	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999971	0.53665	D	1.905	0.50856	L	-0.76	0.73417	T	-4.7	0.79829	D	0.492	0.52563	0.086	0.83917	D	0.521	0.82110	D	10	0.013405383	0.00284	T	0.079552	0.73260	D	0.401	0.71479	.	.	0.85813251465	0.85676	0.5380153124538929	0.53726	0.43770971806	0.43814	0.546659111977	0.45386	T	0.170664	0.51849	T	-0.220047	0.17986	T	-0.0912802	0.64065	T	0.0155009347057922	0.00350	T	0.827017	0.49049	T	0.6690375	0.76381	0.32615092	0.58524	0.6690375	0.76382	0.32615092	0.58523	-12.122	0.85440	D	.	.	0.130	0.27791	B	.	.	4.662185	0.74425	26.2	0.99829653782715055	0.91112	0.92897	0.56815	D	AEFDBHCI	0.746158	0.68861	D	0.656795516520746	0.76809	6.555502	0.649985530509611	0.78608	6.910906	0.999999778201974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.08	0.68373	6.229000	0.72245	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.068:0.0:0.932:0.0	15.002	0.71140	873	0.30802	WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	536.43	33	chr5	154917072	.	G	C	536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.129;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.053;SOR=0.751	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	9	0	1	0
chr5	156951683	156951683	T	-	exonic	TIMD4	.	frameshift deletion	TIMD4:NM_001146726:exon3:c.508delA:p.T170Qfs*3,TIMD4:NM_138379:exon3:c.508delA:p.T170Qfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2523.39	34	chr5	156951682	.	GT	G	2523.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.028;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1242	9	0	1	0
chr5	157029704	157029704	C	T	exonic	HAVCR1	.	nonsynonymous SNV	HAVCR1:NM_001308156:exon8:c.G1090A:p.A364T	.	423	1047	47	5	0	57	0.0264993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0032	0.00199681	0.0043	0.0006	0.0030	0	0.0002	0.0064	0.0128	0.0026	0.003978	615	154602	rs137884244	0.0036	0.0036	0.0034	0.0037	0.0626	0.0035	0.0034	0.0573	0.0552	0.0016	0.0048	0.0434	0	0.0005	0.0626	0.0024	0.0077	0.0028	0.0035	0.0035	0.0034	0.0035	0.0067	0.0032	0.0031	0.0056	0.0052	0.0008	0	0.0067	0.0384	0.0002	9.489e-05	0.0850	0.0028	0.0109	0.0031	0.0	0.91255	D	0.0	0.92824	D	0.513	0.37366	P	0.027	0.21085	B	.	.	.	.	1	0.08975	N	.	.	.	2.17	0.19020	T	-0.45	0.14782	N	0.073	0.04668	-1.0124	0.26165	T	0.017	0.07140	T	8	0.0031917393	0.00054	T	.	.	.	0.010	0.01040	.	.	0.136095386433	0.13204	0.09695275100237294	0.09627	.	.	.	.	.	0.019744	0.15670	T	-0.707108	0.00033	T	-0.788085	0.02218	T	0.00299551632433776	0.00031	T	0.309669	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.20819	B	.;.	.;.	0.361209	0.07339	3.955	0.96280866864453463	0.29282	0.01485	0.04937	N	AEFDGBI	0.039154	0.05648	N	-0.919517760638379	0.10386	0.4960579	-1.0576289488295	0.08548	0.4208496	0.988057716070122	0.31407	0.487112	0.14033	0	0.578056	0.33634	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.61	-0.194	0.12590	-0.678000	0.05310	-2.076000	0.04249	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1753:0.413:0.1928:0.219	0.966	0.01317	634	0.64659	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1897.43	34	chr5	157029704	.	C	T	1897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.619;DP=492;ExcessHet=0;FS=0.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.541;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	9	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,488:488:99:.:.:21746,1479,0:.	1	4	5	0
chr5	157468794	157468794	C	T	exonic	NIPAL4	.	nonsynonymous SNV	NIPAL4:NM_001172292:exon3:c.C536T:p.A179V,NIPAL4:NM_001099287:exon4:c.C407T:p.A136V	Ichthyosis, congenital, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.905	0.292983563554	8.1e-05	.	1.677e-05	0.0001	0	0	0	1.508e-05	0	0	1.29e-05	2	154602	rs372087764	1.307e-05	1.368e-05	1.506e-05	1.106e-05	0.0003	8.36e-06	6.74e-06	6.105e-05	3.186e-05	6.021e-05	2.275e-05	0	0.0001	0	0.0003	7.227e-06	1.664e-05	0	6.57e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.047	0.49120	D	0.141	0.27581	B	0.056	0.26147	B	0.000000	0.84330	D	0.049143	1	0.81001	D	3.77	0.95173	H	-3.12	0.92774	D	-3.88	0.72710	D	0.937	0.94786	0.593	0.91803	D	0.788	0.92822	D	10	0.9581042	0.95190	D	0.292984	0.90627	D	0.905	0.97398	.	.	0.62465077226	0.62159	0.7603543513012374	0.75983	0.357096101051	0.37439	0.618392586708	0.55502	T	0.690694	0.91004	D	0.252854	0.78868	D	0.362	0.90781	D	0.969191789627075	0.68505	D	0.928457	0.73770	D	0.63906485	0.74781	0.69553024	0.82074	0.63906485	0.74782	0.69553024	0.82075	-9.3	0.69607	D	.	.	0.454	0.62381	A	.;.	.;.	4.307735	0.65821	24.9	0.99583709596031078	0.73159	0.97401	0.74515	D	AEFDBI	0.870726	0.79182	D	0.179943307109354	0.50236	3.215642	0.221167687570057	0.51023	3.288572	0.999999999576571	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.75	3.88	0.43959	7.884000	0.85773	4.067000	0.41634	0.568000	0.28809	1.000000	0.71638	0.999000	0.35428	0.615000	0.31768	0.0:0.9214:0.0:0.0785	13.102	0.58641	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2435.43	36	chr5	157468794	.	C	T	2435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.469;DP=515;ExcessHet=0;FS=5.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.11;SOR=0.897	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1440	9	0	1	0
chr5	157488273	157488273	C	T	exonic	ADAM19	.	nonsynonymous SNV	ADAM19:NM_033274:exon21:c.G2542A:p.V848I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0098030895211	0.0007	0.00139776	0.0006	0.0005	0.0003	0	0.0008	0.0008	0.0011	0	0.0005951	92	154602	rs146122567	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0002	0.0005	0.0014	0	0.0004	0.0003	0.0004	0.0005	0.0002	0.0010	0.0010	0.0010	0.0010	0.0034	0.0008	0.0008	0.0027	0.0024	0.0002	0.0461	0.0034	0.0006	0	0.0002	0	0.0006	0.0014	0	0.393	0.10730	T	0.498	0.11263	T	0.021	0.21573	B	0.012	0.16012	B	0.518607	0.11767	N	0.766780	1	0.08975	N	0.345	0.11182	N	4.82	0.01528	T	-0.21	0.11547	N	0.067	0.03956	-0.9129	0.46492	T	0.006	0.01944	T	10	0.004315287	0.00087	T	0.009803	0.25563	T	0.012	0.01476	.	.	0.28798054836	0.28402	0.03540611455412985	0.03487	0.0601548666932	0.06689	0.309809654951	0.11878	T	0.041383	0.25840	T	-0.603889	0.00138	T	-0.739922	0.03894	T	0.00232333899201285	0.00024	T	0.339066	0.07293	T	0.01639531	0.00195	0.022634823	0.00284	0.01639531	0.00195	0.022634823	0.00284	-3.879	0.22903	T	.	.	0.067	0.02428	B	.;.	.;.	1.033096	0.14134	10.71	0.92861831752836599	0.22404	0.02857	0.07619	N	AEFBI	0.029026	0.02665	N	-1.00025553789944	0.08598	0.4037776	-0.970921287223704	0.10441	0.5259214	0.995323739039435	0.34065	0.732398	0.92422	0	0.698795	0.70079	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.69	2.81	0.31971	0.050000	0.14004	2.606000	0.33549	-0.183000	0.09960	0.000000	0.06391	0.998000	0.33993	0.196000	0.21779	0.0:0.4104:0.3272:0.2624	8.112	0.30078	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	517.43	35	chr5	157488273	.	C	T	517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=374;ExcessHet=0;FS=1.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-1.132;SOR=0.96	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1456	9	0	1	0
chr5	157638477	157638477	T	C	exonic	SOX30	.	nonsynonymous SNV	SOX30:NM_178424:exon4:c.A1633G:p.R545G,SOX30:NM_001308165:exon5:c.A718G:p.R240G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.237756253693	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.006	0.70582	D	0.518	0.37483	P	0.154	0.34351	B	0.000557	0.43413	D	0.164007	0.958168	0.81001	D	2.125	0.59049	M	-4.4	0.97989	D	-0.61	0.22508	N	0.132	0.13484	0.829	0.94766	D	0.820	0.93955	D	10	0.19845992	0.35816	T	0.237756	0.88557	D	0.569	0.82460	0.213	0.13210	0.882961405419	0.88181	0.4443980023957744	0.44357	.	.	0.340976953506	0.16585	T	0.057361	0.30545	T	0.270992	0.80528	D	0.151485	0.80276	D	0.67616468667984	0.39614	D	0.70183	0.31167	T	0.2139039	0.43782	0.20383586	0.44478	0.2139039	0.43782	0.20383586	0.44477	-3.257	0.13189	T	0.5339090397131678	0.60442	0.102	0.17911	B	.;.	.;.	2.548201	0.32975	19.20	0.99236976376184172	0.56405	0.90489	0.51708	D	AEFDI	0.625724	0.60881	D	-0.0461696826637311	0.39774	2.350991	0.0696604107587768	0.43032	2.613456	0.998814206398794	0.37733	0.553676	0.25195	0	0.588015	0.36545	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	2.819000	0.47749	1.812000	0.28970	0.665000	0.62972	0.944000	0.32806	1.000000	0.68203	0.642000	0.32476	0.0:0.0:0.0:1.0	14.373	0.66419	821	0.40814	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2711.43	33	chr5	157638477	.	T	C	2711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.561;DP=545;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.598;SOR=0.602	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1158	9	0	1	0
chr5	159323321	159323321	C	T	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon3:c.G97A:p.V33I	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	2	1451	68	1	0	70	0.0235532	.	.	.	455342	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency|not_provided	MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0043	0.00379393	0.0065	0.0010	0.0037	0.0006	0.0116	0.0061	0.0123	0.0145	0.0061642	953	154602	rs3213096	0.0054	0.0054	0.0051	0.0057	0.0186	0.0053	0.0052	0.0157	0.0146	0.0011	0.0037	0.0090	0.0004	0.0083	0.0186	0.0048	0.0069	0.0136	0.0046	0.0047	0.0043	0.0050	0.0099	0.0044	0.0043	0.0077	0.0069	0.0009	0	0.0059	0.0069	0.0006	0.0119	0.0136	0.0052	0.0090	0.0099	0.149	0.24758	T	0.174	0.30045	T	0.002	0.09854	B	0.007	0.12992	B	0.000001	0.84330	D	0.054974	0.998676	0.45259	D	2.255	0.64187	M	1.94	0.22678	T	-0.4	0.13805	N	0.125	0.11769	-1.1033	0.03714	T	0.049	0.20750	T	10	0.0053630173	0.00118	T	.	.	.	0.142	0.37995	.	.	0.329020015101	0.32502	0.5261362391023952	0.52537	0.248504126225	0.27412	0.318446367979	0.13186	T	0.164173	0.50953	T	-0.552734	0.00281	T	-0.56105	0.16279	T	0.00634437416106121	0.00070	T	0.687731	0.29668	T	0.114354566	0.26997	0.07641048	0.16920	0.10463757	0.24737	0.08397647	0.19284	-4.602	0.32197	T	0.3324810881554746	0.43046	0.091	0.13174	B	.	.	1.512208	0.19427	14.26	0.95641778802667776	0.27441	0.51784	0.28977	D	AEFBI	0.092113	0.18652	N	-0.3214034749087	0.28335	1.562097	-0.235318330737127	0.30280	1.703564	0.999998887974361	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.02	5.16	0.70563	1.585000	0.36210	4.066000	0.41626	-0.193000	0.09282	0.909000	0.31653	0.999000	0.35428	0.759000	0.36109	0.0:0.9177:0.0:0.0823	11.460	0.49454	911	0.21964	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022681	0.010101	0.021739	0.011696	0.000000	0.008621	0.039877	0.037879	0.05	1347.43	34	chr5	159323321	.	C	T	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=455;ExcessHet=0;FS=1.391;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.134;SOR=0.884	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1082	9	0	1	0
chr5	160606842	160606842	C	G	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon18:c.G3083C:p.C1028S,ATP10B:NM_001366655:exon18:c.G3083C:p.C1028S,ATP10B:NM_001366657:exon18:c.G3047C:p.C1016S,ATP10B:NM_025153:exon19:c.G3083C:p.C1028S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.131598862349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.84	0.82582	M	-2.49	0.89145	D	-9.29	0.98304	D	0.832	0.82761	0.806	0.94490	D	0.830	0.94291	D	9	0.9605421	0.95459	D	0.131599	0.81386	D	0.891	0.96873	0.786	0.90919	0.87106141007	0.86980	0.9565475526351659	0.95639	0.490603550308	0.47775	0.726916432381	0.71056	T	0.174125	0.52324	T	0.359104	0.87186	D	0.278052	0.87020	D	0.999831795692444	0.99255	D	0.973803	0.90577	D	0.9422837	0.95480	0.9293517	0.97050	0.9422837	0.95481	0.9293517	0.97050	-10.707	0.78026	D	.	.	0.754	0.80188	P	.;.	.;.	5.027772	0.83596	28.1	0.99645438470779113	0.76943	0.98939	0.88905	D	AEFI	0.974350	0.99553	D	0.796243443090197	0.85869	8.707261	0.752188351016725	0.86320	8.851638	0.999998860971258	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	7.813000	0.84661	7.614000	0.62028	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.417	0.87394	865	0.32612	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1675.43	34	chr5	160606842	.	C	G	1675.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.986;DP=468;ExcessHet=0;FS=0.629;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=2.58;SOR=0.601	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr5	160612865	160612865	C	T	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366652:exon17:c.G2714A:p.R905Q,ATP10B:NM_001366655:exon17:c.G2714A:p.R905Q,ATP10B:NM_001366657:exon17:c.G2678A:p.R893Q,ATP10B:NM_025153:exon18:c.G2714A:p.R905Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	2759623	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.212	0.0189579454814	.	.	4.171e-05	0	8.732e-05	0	0	6.032e-05	0	0	3.23e-05	5	154602	rs771984784	2.258e-05	2.257e-05	1.225e-05	3.3e-05	0.0002	1.61e-05	1.416e-05	8.886e-05	7.054e-05	0	0	0	2.52e-05	0	0.0002	1.529e-05	1.656e-05	0.0002	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	0.213	0.19430	T	0.206	0.27056	T	0.164	0.36006	B	0.056	0.26147	B	0.000357	0.45440	N	0.151764	0.999786	0.49076	D	1.535	0.38868	L	-1.65	0.82625	D	-2.09	0.55181	N	0.251	0.28381	-0.6942	0.60712	T	0.303	0.67427	T	9	0.14331251	0.27210	T	0.018958	0.41188	T	0.212	0.50341	0.472	0.54699	0.828667453019	0.82704	0.6219205040595219	0.62125	0.16552989116	0.18672	0.316796064377	0.12935	T	0.043024	0.26370	T	-0.247757	0.14376	T	-0.412135	0.31978	T	0.282776296138763	0.24288	T	0.90471	0.67676	D	0.114620864	0.27057	0.103048585	0.24716	0.114620864	0.27057	0.103048585	0.24715	-6.235	0.48205	T	.	.	0.076	0.05979	B	.;.;.	.;.;.	2.182916	0.27823	17.59	0.99700116248017689	0.80591	0.39290	0.26180	N	AEFI	0.286741	0.39905	N	-0.437592477838232	0.24163	1.302754	-0.371776261830854	0.25842	1.423664	0.0045826098407805	0.10627	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.18	2.41	0.28644	1.018000	0.29604	-0.099000	0.11964	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.976000	0.56436	0.0:0.7757:0.0:0.2243	9.872	0.40346	866	0.32446	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	761.43	35	chr5	160612865	.	C	T	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=386;ExcessHet=0;FS=2.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=2.14;SOR=0.811	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1082	9	0	1	0
chr5	160644170	160644170	G	A	exonic	ATP10B	.	nonsynonymous SNV	ATP10B:NM_001366658:exon4:c.C752T:p.T251I,ATP10B:NM_001366654:exon7:c.C968T:p.T323I,ATP10B:NM_001366652:exon8:c.C836T:p.T279I,ATP10B:NM_001366653:exon8:c.C836T:p.T279I,ATP10B:NM_001366655:exon8:c.C836T:p.T279I,ATP10B:NM_001366656:exon8:c.C836T:p.T279I,ATP10B:NM_001366657:exon8:c.C836T:p.T279I,ATP10B:NM_025153:exon9:c.C836T:p.T279I	.	.	.	.	.	.	.	.	.	.	.	3919846	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.891	0.107551588694	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs748353572	2.052e-05	2.052e-05	1.089e-05	3.025e-05	0.0005	1.456e-05	1.264e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	1.529e-05	9.936e-05	4.637e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.05	0.97045	H	-2.72	0.90622	D	-5.36	0.84811	D	0.82	0.81559	1.097	0.99525	D	0.918	0.97271	D	9	0.8905978	0.88400	D	0.107552	0.78368	D	0.891	0.96873	0.64	0.77687	0.970791389124	0.97048	0.9229731233750007	0.92274	0.460915909934	0.45645	0.745007157326	0.73710	T	0.634932	0.88733	D	0.223802	0.76136	D	0.265227	0.86338	D	0.99712461233139	0.90826	D	0.990644	0.97095	D	0.9399407	0.95242	0.89114356	0.94348	0.9399407	0.95242	0.89114356	0.94349	-11.668	0.83197	D	.	.	0.935	0.85432	P	.;.	.;.	4.979688	0.82472	27.8	0.9992148569993996	0.98787	0.99094	0.91137	D	AEFI	0.932425	0.92276	D	1.00160438616451	0.95792	13.97138	0.887825939149565	0.95019	13.24042	0.999999999942918	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.9	4.9	0.63643	9.478000	0.96869	11.692000	0.94371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.078	0.86468	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2182.43	33	chr5	160644170	.	G	A	2182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=524;ExcessHet=0;FS=1.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.041;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	9	0	1	0
chr5	168502030	168502030	G	A	exonic	RARS1	.	nonsynonymous SNV	RARS1:NM_002887:exon9:c.G982A:p.V328I	.	451	1042	27	2	0	31	0.0146572	.	.	.	369735	RARS1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0036	0.0103834	0.0084	0.0015	0.0022	0	0.0006	0.0057	0.0033	0.0357	0.0076648	1185	154602	rs62385662	0.0069	0.0071	0.0061	0.0078	0.0349	0.0068	0.0068	0.0338	0.0334	0.0008	0.0026	0.0052	5.211e-05	0.0015	0.0121	0.0058	0.0060	0.0349	0.0047	0.0047	0.0043	0.0051	0.0349	0.0044	0.0043	0.0306	0.0290	0.0009	0	0.0056	0.0035	0	0.0008	0.0102	0.0058	0.0043	0.0349	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.014	0.16862	B	0.000002	0.62929	N	0.097391	0.897314	0.27769	N	0.09	0.08384	N	-0.24	0.66834	T	0.34	0.03824	N	0.132	0.12770	-1.0317	0.19905	T	0.083	0.32499	T	10	0.0030251145	0.00050	T	.	.	.	0.080	0.23350	.	.	0.327952845175	0.32413	0.2619038956411178	0.26104	0.102547148588	0.11607	0.240840762854	0.02866	T	0.092985	0.39118	T	-0.539611	0.00337	T	-0.523516	0.19940	T	0.000982415210076527	0.00009	T	0.748625	0.36937	T	0.029705701	0.02508	0.03727165	0.03346	0.029705701	0.02508	0.03727165	0.03346	-3.975	0.23428	T	0.07787395530918212	0.03689	0.070	0.03407	B	.	.	0.481741	0.08514	5.274	0.19889733911019364	0.00691	0.27502	0.23295	N	AEFBI	0.054241	0.09844	N	-0.710132157647346	0.15736	0.7956725	-0.50197793115811	0.22099	1.198669	0.999279479482713	0.38974	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	3.99	0.45527	2.019000	0.40620	1.065000	0.23755	-0.704000	0.03997	1.000000	0.71638	0.459000	0.24993	0.429000	0.27427	0.8443:0.0:0.1557:0.0	9.332	0.37191	972	0.05671	Arginyl-tRNA synthetase, catalytic core domain|Arginyl-tRNA synthetase, catalytic core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010101	0.005102	0.009511	0.002924	0.000000	0.025862	0.015432	0.018939	0.05	1140.43	34	chr5	168502030	.	G	A	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.643;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.25;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1059	9	0	1	0
chr5	168666647	168666647	C	T	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon36:c.G4400A:p.R1467H,SLIT3:NM_003062:exon36:c.G4379A:p.R1460H	.	419	1102	1	0	0	1	0.000453515	.	.	.	699007	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.468	.	0.0002	0.000798722	0.0015	9.623e-05	0.0132	0	0	0.0003	0	0.0008	0.0013389	207	154602	rs138032051	0.0004	0.0004	0.0005	0.0004	0.0092	0.0004	0.0004	0.0085	0.0082	0.0001	0.0092	0	0	1.873e-05	0.0002	0.0001	0.0003	0.0007	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0022	0.0020	7.216e-05	0	0.0029	0	0	0	0	8.82e-05	0	0.0006	0.105	0.30235	T	0.18	0.32891	T	0.982	0.60036	D	0.608	0.51027	P	0.000016	0.62929	D	0.110304	0.998787	0.51308	D	1.845	0.48678	L	-0.99	0.75911	T	-1.66	0.39692	N	0.404	0.56662	-0.4849	0.69191	T	0.267	0.63876	T	10	0.009153724	0.00207	T	.	.	.	0.468	0.76289	.	.	0.674899423289	0.67214	0.5164967353146308	0.51572	0.968795695349	0.73288	0.440823346376	0.30689	T	0.165501	0.51138	T	-0.32357	0.06609	T	-0.228167	0.51949	T	0.0611550520686743	0.07349	T	0.89771	0.64209	D	0.0833204	0.19234	0.059809193	0.11287	0.0833204	0.19234	0.059809193	0.11286	-7.308	0.56253	T	.	.	0.089	0.15430	B	.;.;.	.;.;.	4.797167	0.77915	26.8	0.99932312071626672	0.99439	0.67224	0.33356	D	AEFDBI	0.364684	0.45314	N	0.434426975963811	0.63326	4.564141	0.452089355252586	0.64851	4.750068	0.998413404470711	0.36924	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.08	5.08	0.68373	3.103000	0.49990	4.695000	0.44383	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.7769:0.0:0.2231	6.594	0.21856	966	0.07191	Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1109.43	40	chr5	168666647	.	C	T	1109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.985;DP=407;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.347;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	9	0	1	0
chr5	169594668	169594668	T	C	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon7:c.T878C:p.M293T,SPDL1:NM_001329640:exon7:c.T878C:p.M293T,SPDL1:NM_001329641:exon7:c.T878C:p.M293T,SPDL1:NM_017785:exon7:c.T878C:p.M293T,SPDL1:NM_001329642:exon8:c.T665C:p.M222T,SPDL1:NM_001329643:exon8:c.T665C:p.M222T	.	438	1080	4	0	0	4	0.00184843	.	.	.	2427324	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0242917780512	.	.	0.0002	0	8.797e-05	0	0	0.0003	0	6.408e-05	0.0001423	22	154602	rs201242667	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0048	0.0042	0.0001	0.0006	7.66e-05	0	0	0.0064	0.0002	0.0004	0.0002	0.0001	0.0001	0.0001	0.0002	0.0006	9.143e-05	7.699e-05	0.0003	0.0002	9.622e-05	0	0.0006	0	0	0	0.0034	8.821e-05	0	0.0002	0.007	0.59928	D	0.166	0.30828	T	0.993	0.65571	D	0.773	0.56974	P	0.000015	0.62929	D	0.165341	0.999977	0.53665	D	1.32	0.33002	L	1.41	0.33412	T	-2.69	0.57435	D	0.509	0.54059	-0.9626	0.38684	T	0.155	0.48636	T	10	0.24288839	0.41493	T	0.024292	0.47276	T	0.115	0.32236	0.325	0.30711	0.629465430942	0.62643	0.17869332878485245	0.17788	0.222191019047	0.24755	0.668757796288	0.62660	T	0.093522	0.39230	T	-0.325487	0.06459	T	-0.329471	0.41527	T	0.171907373974495	0.18709	T	0.824517	0.48627	T	0.34167936	0.56413	0.47427112	0.69530	0.34167936	0.56413	0.47427112	0.69531	-6.722	0.51976	T	.	.	0.539	0.66334	A	.	.	4.281905	0.65228	24.8	0.98694801074107452	0.44809	0.98066	0.79310	D	AEFBI	0.645077	0.62111	D	0.599633515674042	0.73153	5.919667	0.619055680765272	0.76325	6.47015	0.999999999999015	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	5.417000	0.66162	7.828000	0.70003	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.154	0.81460	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007553	0.000000	0.009511	0.020468	0.000000	0.017241	0.000000	0.000000	0.05	1342.43	41	chr5	169594668	.	T	C	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.325;DP=473;ExcessHet=0;FS=2.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.308;SOR=1.006	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr5	169598495	169598495	A	T	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon9:c.A1052T:p.E351V,SPDL1:NM_001329640:exon9:c.A1052T:p.E351V,SPDL1:NM_001329641:exon9:c.A1052T:p.E351V,SPDL1:NM_017785:exon9:c.A1052T:p.E351V,SPDL1:NM_001329642:exon10:c.A839T:p.E280V,SPDL1:NM_001329643:exon10:c.A839T:p.E280V	.	458	1026	36	2	0	40	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0070	0.0016	0.0024	0	0.0009	0.0063	0.0143	0.0221	0.0066041	1021	154602	rs143453400	0.0074	0.0075	0.0069	0.0079	0.0223	0.0073	0.0073	0.0215	0.0211	0.0011	0.0027	0.0213	0.0001	0.0012	0.0123	0.0069	0.0078	0.0223	0.0054	0.0054	0.0056	0.0052	0.0263	0.0051	0.0050	0.0226	0.0212	0.0012	0	0.0033	0.0231	0.0002	0.0009	0.0102	0.0073	0.0047	0.0263	0.038	0.42783	D	0.049	0.48336	D	0.383	0.34425	B	0.151	0.34210	B	0.005567	0.32687	N	0.342683	0.653632	0.30511	N	1.24	0.30952	L	1.27	0.36146	T	-2.9	0.60827	D	0.574	0.59648	-0.8781	0.49911	T	0.113	0.40331	T	10	0.004106611	0.00081	T	.	.	.	0.069	0.20116	.	.	0.493964856914	0.49030	0.10170001217084026	0.10100	0.195775768481	0.21932	0.405035167933	0.25769	T	0.068886	0.33570	T	-0.487323	0.00672	T	-0.455863	0.27051	T	0.0214386891831938	0.00847	T	0.731327	0.34690	T	0.10228599	0.24167	0.10267653	0.24615	0.10732706	0.25379	0.10267653	0.24614	-4.592	0.32071	T	.	.	0.116	0.23219	B	.	.	4.513245	0.70700	25.6	0.99283097900901096	0.57973	0.92365	0.55543	D	AEFBI	0.293992	0.40448	N	0.150376278577631	0.48831	3.090472	0.22321824879197	0.51139	3.299027	0.99997338782583	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.010000	0.49246	5.961000	0.51824	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.7774:0.1482:0.0744:0.0	7.067	0.24336	930	0.16408	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.005051	0.010870	0.000000	0.000000	0.017241	0.009146	0.003788	0.05	1069.43	33	chr5	169598495	.	A	T	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.973;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-1.033;SOR=0.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,985	9	0	1	0
chr5	169985868	169985868	T	C	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon29:c.T2939C:p.I980T	Immunodeficiency 40, Autosomal recessive	430	1089	3	0	0	3	0.00137552	.	.	.	721376	DOCK2_deficiency	MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.514	0.0158456984483	0.0009	0.000798722	0.0010	0	0.0006	0.0001	0.0008	0.0010	0	0.0026	0.0008861	137	154602	rs148694888	0.0008	0.0008	0.0007	0.0009	0.0034	0.0008	0.0008	0.0031	0.0029	8.98e-05	0.0006	0.0019	2.524e-05	0.0007	0.0024	0.0007	0.0007	0.0034	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0010	0.0007	0.0001	0	0.0010	0.0009	0	0.0004	0	0.0008	0.0009	0.0019	0.001	0.78490	D	0.002	0.79402	D	0.993	0.65571	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999963	0.54805	D	2.56	0.74772	M	3.65	0.04267	T	-3.64	0.69835	D	0.86	0.85660	-1.1941	0.00199	T	0.046	0.19680	T	10	0.070332766	0.10217	T	0.015846	0.36807	T	0.514	0.79217	.	.	0.783073622163	0.78106	0.6449570072435366	0.64430	1.59919968995	0.88670	0.789665818214	0.80391	T	0.462914	0.79908	T	-0.0959517	0.37093	T	0.0844689	0.75877	D	0.067292109131813	0.08266	T	0.848915	0.53103	T	0.694089	0.77734	0.5827619	0.75810	0.691178	0.77577	0.56450844	0.74797	-10.519	0.76956	D	.	.	0.460	0.62674	A	.;.	.;.	4.796339	0.77887	26.8	0.99827943881106218	0.91026	0.98385	0.82238	D	AEFBI	0.896280	0.83718	D	0.713393650631618	0.80511	7.310196	0.678330182061529	0.80736	7.365828	0.999999999999368	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	5.33	5.33	0.75683	8.017000	0.88732	6.144000	0.54095	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.328	0.73896	962	0.08456	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1932.43	35	chr5	169985868	.	T	C	1932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.032;DP=518;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-0.106;SOR=0.837	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1244	9	0	1	0
chr5	173086536	173086536	T	A	exonic	CREBRF	.	nonsynonymous SNV	CREBRF:NM_001168393:exon3:c.T45A:p.D15E,CREBRF:NM_001168394:exon3:c.T45A:p.D15E,CREBRF:NM_153607:exon3:c.T45A:p.D15E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0257200582635	.	.	0.0005	0	8.637e-05	0	0	0	0.0011	0.0035	0.0003816	59	154602	rs772772961	0.0002	0.0002	9.802e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0	8.993e-07	0.0001	0.0030	0.0001	0.0001	6.422e-05	0.0001	0.0031	6.505e-05	5.317e-05	0.0019	0.0015	0	0	0	0	0.0002	0	0	0	0	0.0031	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.805	0.20218	L	0.21	0.59983	T	-3.28	0.74051	D	0.937	0.94314	-0.6814	0.61307	T	0.254	0.62383	T	10	0.012847781	0.00275	T	0.02572	0.48675	D	0.227	0.52620	0.194	0.10571	0.284112513307	0.28011	0.30532862191357724	0.30445	0.867029497219	0.69248	0.780002176762	0.78927	T	0.042946	0.26344	T	-0.124012	0.32469	T	0.0466676	0.73365	D	0.126334812995933	0.15039	T	0.874313	0.61095	D	0.46899492	0.65228	0.36860675	0.62147	0.46899492	0.65229	0.36860675	0.62147	-3.371	0.14669	T	.	.	0.612	0.81367	P	.;.;.;.	.;.;.;.	4.141905	0.62066	24.4	0.99493018573673586	0.67573	0.93545	0.58509	D	AEFBI	0.392339	0.47043	N	0.515210091693959	0.67988	5.155795	0.557044842140459	0.71889	5.724106	0.999989986299318	0.51787	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	2.439000	0.44504	4.265000	0.42822	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0671:0.0:0.9329	12.407	0.54779	969	0.06854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1462.43	35	chr5	173086536	.	T	A	1462.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.237;DP=430;ExcessHet=0;FS=2.311;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.61;SOR=0.514	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	9	0	1	0
chr5	173091407	173091407	A	G	exonic	CREBRF	.	nonsynonymous SNV	CREBRF:NM_001168393:exon4:c.A1228G:p.I410V,CREBRF:NM_001168394:exon4:c.A1228G:p.I410V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00399898201673	.	.	.	.	.	.	.	.	.	.	.	.	.	rs923890609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	0	1.344e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.587	0.08302	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.55	0.02721	N	0.031	0.00942	-0.9883	0.33027	T	0.034	0.14552	T	7	0.029013157	0.01029	T	0.003999	0.09493	T	0.087	0.25287	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.325895	0.06427	T	-0.705902	0.05509	T	0.010231686264264	0.00139	T	0.212079	0.02586	T	.	.	.	.	.	.	.	.	-3.611	0.18016	T	.	.	0.133	0.28750	B	.;.	.;.	0.968909	0.13460	9.968	0.19062896219945719	0.00627	0.02539	0.07057	N	AEBI	0.030722	0.03146	N	-0.490478061950759	0.22392	1.195347	-0.622412095097058	0.18918	1.012746	0.656177580127516	0.22220	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	4.89	1.91	0.24841	0.797000	0.26660	1.602000	0.27589	0.756000	0.94297	0.281000	0.25150	0.002000	0.18203	0.880000	0.42090	0.6287:0.0:0.3713:0.0	7.074	0.24372	959	0.08690	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1734.43	35	chr5	173091407	.	A	G	1734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=464;ExcessHet=0;FS=3.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.004;SOR=1.034	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	9	0	1	0
chr5	173235023	173235023	C	G	exonic	NKX2-5	.	nonsynonymous SNV	NKX2-5:NM_001166175:exon1:c.G61C:p.E21Q,NKX2-5:NM_001166176:exon1:c.G61C:p.E21Q,NKX2-5:NM_004387:exon1:c.G61C:p.E21Q	Atrial septal defect 7, with or without AV conduction defects, Autosomal dominant;Conotruncal heart malformations, variable;Hypoplastic left heart syndrome 2, Autosomal dominant;Hypothyroidism, congenital nongoitrous, 5, Autosomal dominant;Tetralogy of Fallot, Autosomal dominant;Ventricular septal defect 3, Autosomal dominant	0	1516	1	0	5	6	0.000329707	.	.	.	24048	Cardiovascular_phenotype|not_specified|not_provided|Tetralogy_of_Fallot|Congenital_heart_disease|Atrial_septal_defect_7	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500,Orphanet:3303|MONDO:MONDO:0005453,MedGen:C0152021|MONDO:MONDO:0007173,MedGen:C3276096,OMIM:108900,Orphanet:1479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.780	0.659068436071	0.0006	.	0.0008	0	0.0003	0	0	0.0014	0	0	0.000705	109	154602	rs104893904	0.0006	0.0006	0.0005	0.0006	0.0012	0.0005	0.0005	0.0006	0.0004	0	0.0002	0.0219	0	0	0.0012	0.0001	0.0014	0.0001	0.0007	0.0007	0.0006	0.0008	0.0003	0.0006	0.0006	0.0002	0.0002	0	0	6.533e-05	0.0236	0	0	0.0034	0.0003	0.0014	0	0.003	0.91255	D	0.0	0.92824	D	0.948	0.90584	P	0.502	0.69585	P	0.547781	0.11468	N	0.786497	0.999998	0.58761	A	2.11	0.58565	M	-3.0	0.94067	D	-1.89	0.56301	N	0.342	0.53181	0.940	0.96249	D	0.897	0.96598	D	9	0.009920806	0.00222	T	0.659068	0.97132	D	0.780	0.92664	.	.	0.824267568841	0.82260	0.7807543761662172	0.78026	1.3426112449	0.83886	0.82370531559	0.85596	D	0.536374	0.84047	D	0.10136	0.64439	D	0.192534	0.82713	D	0.0525488041714048	0.05942	T	0.924208	0.82717	D	0.32520714	0.55075	0.40486005	0.64902	0.4831651	0.66092	0.41848046	0.65870	-9.188	0.68899	D	.	.	0.480	0.75908	A	.;.;.;.	.;.;.;.	4.856388	0.79421	27.1	0.99797040567613227	0.88194	0.97120	0.72807	D	ALL	0.845987	0.76288	D	0.647958712427146	0.76237	6.449447	0.607832399809822	0.75506	6.322867	0.999999999999865	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.63947	0.58350	0	.	.	4.76	4.76	0.60189	5.693000	0.67926	7.524000	0.59808	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	18.121	0.89499	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	320.43	53	chr5	173235023	.	C	G	320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.225;DP=390;ExcessHet=0;FS=2.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.05;ReadPosRankSum=0.029;SOR=0.832	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1220	9	0	1	0
chr5	173989505	173989505	C	T	exonic	C5orf47	.	nonsynonymous SNV	C5orf47:NM_001144954:exon1:c.C242T:p.P81L	.	414	1093	14	1	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.00599042	0.0061	0.0196	0.0048	0	0	0.0085	0	0.0028	0.0012419	192	154602	rs115473626	0.0047	0.0045	0.0048	0.0045	0.0176	0.0046	0.0045	0.0164	0.0159	0.0176	0.0036	0.0077	2.822e-05	0.0148	0.0088	0.0041	0.0061	0.0012	0.0098	0.0098	0.0095	0.0102	0.0186	0.0094	0.0093	0.0175	0.0171	0.0186	0.0011	0.0090	0.0069	0	0.0184	0.0102	0.0049	0.0104	0.0012	0.395	0.10659	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	-2.28	0.50830	N	0.025	0.00485	-1.0222	0.22998	T	0.014	0.05513	T	8	0.0047113	0.00099	T	.	.	.	0.022	0.04323	.	.	0.0551355673512	0.04727	0.02208729332052774	0.02160	.	.	.	.	.	0.054679	0.29791	T	-0.708169	0.00033	T	-0.775075	0.02605	T	0.00249957737345957	0.00026	T	0.452755	0.12846	T	0.027760087	0.02015	0.04247452	0.05065	0.027760087	0.02015	0.04247452	0.05065	-3.679	0.19008	T	.	.	0.077	0.06295	B	.	.	-0.049628	0.03954	0.884	0.49522400986126158	0.04224	0.00388	0.01954	N	AEFDBI	0.028796	0.02603	N	-1.8116562881133	0.00517	0.0222669	-1.87970252443646	0.00537	0.02380419	0.197110843992046	0.18074	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	1.16	0.067	0.13678	-0.798000	0.04670	-0.643000	0.08067	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.778:0.0:0.222	6.657	0.22185	975	0.05339	.	.	.	.	.	rs115473626	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	950.43	35	chr5	173989505	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.882;DP=414;ExcessHet=0;FS=1.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.796;SOR=0.949	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,915	9	0	1	0
chr5	175521940	175521940	C	T	exonic	SFXN1	.	nonsynonymous SNV	SFXN1:NM_001322980:exon8:c.C668T:p.T223I,SFXN1:NM_001322981:exon8:c.C668T:p.T223I,SFXN1:NM_001322977:exon9:c.C796T:p.P266S,SFXN1:NM_001322978:exon9:c.C613T:p.P205S,SFXN1:NM_001322982:exon9:c.C613T:p.P205S,SFXN1:NM_022754:exon9:c.C796T:p.P266S	.	431	1080	10	1	0	12	0.00552486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.0503870033387	0.0041	0.00139776	0.0033	0.0008	0.0013	0	0.0020	0.0046	0.0033	0.0036	0.0034799	538	154602	rs34907038	0.0053	0.0054	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0060	0.0008	0.0016	0.0019	2.524e-05	0.0024	0.0016	0.0061	0.0047	0.0038	0.0039	0.0039	0.0041	0.0038	0.0061	0.0037	0.0036	0.0056	0.0054	0.0012	0.0702	0.0022	0.0017	0	0.0008	0.0136	0.0061	0.0033	0.0033	0.003	0.68238	D	0.003	0.76473	D	0.975	0.58077	D	0.936	0.67150	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.99	0.96693	H	1.16	0.38073	T	-7.76	0.95815	D	0.928	0.93252	-0.6002	0.64809	T	0.206	0.56417	T	10	0.067386866	0.09382	T	0.050387	0.64219	D	0.511	0.79033	.	.	0.486382865207	0.48270	0.8434605750293743	0.84307	0.788034645035	0.65629	0.686604499817	0.65218	T	0.181221	0.53282	T	-0.0612397	0.42715	T	0.143402	0.79763	D	0.132652496720389	0.15625	T	0.963004	0.86214	D	0.7855892	0.82999	0.8011109	0.88339	0.7855892	0.83001	0.8011109	0.88340	-10.233	0.75294	D	.	.	0.628	0.70036	P	.	.	4.390903	0.67767	25.1	0.99884778255338802	0.96049	0.99225	0.93076	D	AEFBI	0.870822	0.79194	D	0.749742866192427	0.82887	7.875422	0.668702794277156	0.80008	7.204902	0.999999999994323	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	7.798000	0.84489	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	18.678	0.91497	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	447.43	41	chr5	175521940	.	C	T	447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=361;ExcessHet=0;FS=4.921;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.132;SOR=0.228	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	9	0	1	0
chr5	176384092	176384092	G	0	exonic	NOP16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4619.79	170	chr5	176384092	.	G	*	4619.79	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.94;DP=970;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.69;ReadPosRankSum=-0.869;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	8	0	2	0
chr5	176388854	176388854	C	A	exonic	HIGD2A	.	nonsynonymous SNV	HIGD2A:NM_138820:exon1:c.C35A:p.P12H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0566409750044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.964	0.55854	D	0.541	0.48869	P	0.000013	0.62929	D	0.115764	0.945614	0.81001	D	2.595	0.75868	M	.	.	.	-2.59	0.55821	D	0.29	0.32812	-0.4691	0.69756	T	0.244	0.61260	T	9	0.2698177	0.44510	T	0.056641	0.66679	D	0.124	0.34239	0.22	0.14224	0.167679373172	0.16340	0.8534270995725388	0.85304	0.992328238747	0.74125	0.348370343447	0.17682	T	0.184748	0.53750	T	-0.0265175	0.47920	T	-0.275867	0.47226	T	0.981484174728394	0.73938	D	0.651635	0.26249	T	0.2903732	0.52027	0.36907792	0.62185	0.2903732	0.52027	0.36907792	0.62184	-6.126	0.47322	T	.	.	0.113	0.22464	B	.	.	3.217205	0.43821	21.8	0.99516622842590474	0.68979	0.89537	0.50064	D	ALL	0.608985	0.59836	D	0.0858187853976181	0.45802	2.830685	-0.0278073142709357	0.38465	2.266521	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.37	4.49	0.54177	2.122000	0.41610	2.132000	0.30787	0.599000	0.40250	0.303000	0.25352	0.008000	0.19753	0.020000	0.11549	0.0:0.8246:0.1754:0.0	11.869	0.51789	466	0.78352	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2545.43	190	chr5	176388854	.	C	A	2545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.292;DP=571;ExcessHet=0;FS=2.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.334;SOR=0.535	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr5	176598760	176598760	C	T	exonic	GPRIN1	.	nonsynonymous SNV	GPRIN1:NM_052899:exon2:c.G1075A:p.G359R	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00612717103086	0.0008	0.000399361	0.0006	9.878e-05	0.0008	0	0.0011	0.0009	0.0022	6.058e-05	0.0006921	107	154602	rs140938518	0.0007	0.0007	0.0007	0.0007	0.0120	0.0006	0.0006	0.0097	0.0089	0.0003	0.0008	0.0006	0	0.0013	0.0120	0.0006	0.0010	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0004	0.0003	0	0.0004	0.0272	0.0011	0.0005	0	0.015	0.52492	D	0.199	0.27679	T	0.253	0.31246	B	0.127	0.32738	B	0.237595	0.15783	N	0.482216	1	0.08975	N	0.83	0.20963	L	2.8	0.11082	T	-2.13	0.48354	N	0.044	0.01658	-1.0186	0.24171	T	0.027	0.11529	T	10	0.009430021	0.00213	T	0.006127	0.16052	T	0.017	0.02790	0.16	0.06396	0.043077524339	0.03247	0.10408127190816659	0.10338	.	.	0.231071025133	0.02048	T	0.006695	0.06116	T	-0.620524	0.00109	T	-0.70465	0.05575	T	0.00761173963649218	0.00088	T	0.458654	0.13238	T	0.092772104	0.21772	0.09501047	0.22514	0.092772104	0.21772	0.09501047	0.22513	-4.959	0.36392	T	.	.	0.132	0.28521	B	.	.	1.389074	0.18013	13.50	0.99047249146670591	0.51162	0.04377	0.09953	N	AEFBI	0.042837	0.06697	N	-0.698867452680205	0.16053	0.8145636	-0.757337535487891	0.15542	0.8179056	0.937891012327117	0.27318	0.695654	0.57023	0	0.546412	0.12157	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	3.05	0.34272	-0.055000	0.11763	0.508000	0.19055	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8081:0.0:0.1919	8.467	0.32123	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.009511	0.014620	0.000000	0.000000	0.003049	0.000000	0.05	1471.43	109	chr5	176598760	.	C	T	1471.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.51;DP=833;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.981;SOR=0.632	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	9	0	1	0
chr5	177064650	177064650	C	T	exonic	ZNF346	.	nonsynonymous SNV	ZNF346:NM_001308216:exon4:c.C511T:p.R171C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.694e-05	0	0.0001	0	0.0002	0	0.0020	0.0003428	53	154602	rs528150769	0.0002	0.0002	0.0001	0.0002	0.0019	0.0002	0.0002	0.0017	0.0016	0.0002	2.251e-05	0	2.571e-05	7.513e-05	0	4.935e-05	0.0004	0.0019	0.0001	0.0001	7.707e-05	0.0001	0.0029	7.084e-05	5.742e-05	0.0018	0.0014	4.81e-05	0	0	0	0	0	0	1.47e-05	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1851.43	34	chr5	177064650	.	C	T	1851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.728;DP=536;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.623;SOR=0.678	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr5	177093430	177093430	G	A	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_022963:exon8:c.G1156A:p.G386S,FGFR4:NM_001354984:exon10:c.G1276A:p.G426S,FGFR4:NM_002011:exon10:c.G1276A:p.G426S,FGFR4:NM_213647:exon10:c.G1276A:p.G426S	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0709963716306	7.7e-05	0.000199681	5.789e-05	0	8.643e-05	0	0	7.538e-05	0	6.056e-05	5.17e-05	8	154602	rs55879131	7.183e-05	7.251e-05	8.713e-05	5.638e-05	0.0016	6.048e-05	5.595e-05	0.0008	0.0006	0	0.0001	0	0	0	0.0016	6.385e-05	0.0002	0.0001	5.907e-05	5.905e-05	5.138e-05	6.711e-05	0.0002	3.074e-05	2.208e-05	2.846e-05	1.858e-05	2.405e-05	0	6.533e-05	0	0	0	0	7.35e-05	0.0005	0.0002	0.645	0.06824	T	0.421	0.14075	T	0.083	0.41767	B	0.015	0.30945	B	0.000189	0.48115	N	0.213165	0.982048	0.81001	D	1.525	0.38595	L	-1.67	0.82806	D	-0.87	0.23590	N	0.455	0.49237	-0.6557	0.62465	T	0.253	0.62281	T	10	0.11410746	0.21458	T	0.070996	0.71151	D	0.336	0.65816	.	.	0.927080715913	0.92633	0.54438628875386	0.54364	0.302393690479	0.32568	0.487607836723	0.37107	T	0.253258	0.62376	T	-0.0888584	0.38265	T	-0.168444	0.57585	T	0.0889597088098526	0.11093	T	0.710029	0.42989	T	0.02430517	0.01250	0.04490683	0.05925	0.035705008	0.04254	0.058289565	0.10744	-3.217	0.12689	T	.	.	0.072	0.12037	B	.;.;.	.;.;.	3.638030	0.51572	23.1	0.96776249816279514	0.31057	0.89981	0.50810	D	AEFDBCI	0.377127	0.46101	N	-0.00744127872731444	0.41518	2.484795	0.00955622752306673	0.40156	2.392147	0.999437463763052	0.39683	0.718356	0.82227	0	0.610034	0.51514	0	0.570548	0.19454	0	0.550183	0.17644	0	.	.	4.76	3.89	0.44098	4.602000	0.60805	7.476000	0.59206	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0792:0.0:0.9208:0.0	13.000	0.58076	835	0.38313	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2463.43	48	chr5	177093430	.	G	A	2463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=569;ExcessHet=0;FS=0.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.188;SOR=0.759	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	9	0	1	0
chr5	177097608	177097608	G	T	exonic	FGFR4	.	nonsynonymous SNV	FGFR4:NM_022963:exon16:c.G2221T:p.V741F,FGFR4:NM_001291980:exon18:c.G2137T:p.V713F,FGFR4:NM_001354984:exon18:c.G2341T:p.V781F,FGFR4:NM_002011:exon18:c.G2341T:p.V781F,FGFR4:NM_213647:exon18:c.G2341T:p.V781F	.	394	1126	2	0	0	2	0.000887311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.593	0.0763350352174	.	.	3.298e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs779626910	1.095e-05	1.094e-05	1.225e-05	9.626e-06	0.0003	6.48e-06	5.24e-06	0.0002	0.0002	0	0	0	0.0003	0	0	1.799e-06	1.656e-05	0	2.627e-05	2.626e-05	3.853e-05	1.344e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.0	0.91255	D	0.005	0.72224	D	0.998	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.475	0.71894	M	-1.59	0.82076	D	-3.59	0.75058	D	0.551	0.66787	0.432	0.89567	D	0.676	0.88774	D	10	0.27222764	0.44765	T	0.076335	0.72505	D	0.593	0.83802	0.184	0.09259	0.95226174331	0.95175	0.6712116497002473	0.67059	0.358385022141	0.37549	0.55682849884	0.46820	T	0.744262	0.92942	D	0.0716991	0.61054	D	0.185224	0.82296	D	0.829889297485352	0.48521	D	0.988826	0.96199	D	0.8274618	0.85727	0.6544297	0.79771	0.8274618	0.85728	0.6544297	0.79772	-10.565	0.77220	D	.	.	0.439	0.71051	A	.;.;.;.	.;.;.;.	3.938193	0.57613	23.9	0.99017924553138392	0.50505	0.98335	0.81744	D	AEFDBHCI	0.961283	0.98245	D	0.643680637978163	0.75961	6.399255	0.579792908709458	0.73492	5.97942	0.999999999999996	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.64	4.64	0.57399	8.111000	0.89418	11.838000	0.97738	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.348000	0.25613	0.0:0.0:1.0:0.0	16.448	0.83814	840	0.37365	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1773.43	36	chr5	177097608	.	G	T	1773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=494;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=0.459;SOR=0.596	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1005	9	0	1	0
chr5	177210738	177210738	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon5:c.C2339T:p.S780L,NSD1:NM_001365684:exon6:c.C1532T:p.S511L,NSD1:NM_172349:exon6:c.C1532T:p.S511L	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	239787	not_provided|NSD1-related_disorder|not_specified|Inborn_genetic_diseases|Sotos_syndrome	MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.119532793554	0.0002	0.00159744	0.0015	0.0005	0.0003	0.0001	0	0.0002	0.0033	0.0090	0.0012678	196	154602	rs201327209	0.0007	0.0007	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0072	0.0006	0.0001	3.826e-05	0.0001	1.872e-05	0.0045	0.0001	0.0013	0.0078	0.0004	0.0004	0.0002	0.0006	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0079	0.369	0.11586	T	0.157	0.31730	T	0.001	0.07471	B	0.001	0.04355	B	0.479984	0.04976	N	1.312980	1	0.08975	N	0.665	0.16292	N	-2.92	0.91748	D	-0.93	0.24898	N	0.123	0.11483	-0.5315	0.67484	T	0.501	0.81130	D	9	0.0071305633	0.00162	T	0.119533	0.79986	D	0.203	0.48915	.	.	0.285775778912	0.28195	0.1697416330843925	0.16894	0.0501952522484	0.05511	0.305351316929	0.11204	T	0.066807	0.33039	T	-0.46338	0.00936	T	-0.432275	0.29678	T	0.000333618925651535	0.00003	T	0.835416	0.50550	T	0.022735035	0.00958	0.0322699	0.01938	0.02184088	0.00810	0.035779733	0.02895	-3.889	0.23023	T	0.09667254712048216	0.06716	0.062	0.04080	B	.;.;.	.;.;.	1.123340	0.15092	11.58	0.7050257673748207	0.09317	0.11542	0.16702	N	AEFBI	0.038157	0.05359	N	-1.10106651792145	0.06625	0.3054917	-1.05623962233042	0.08577	0.4223897	0.0861538822561668	0.16001	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.02	0.25641	0.173000	0.16538	0.725000	0.21043	-0.202000	0.08738	0.002000	0.15269	0.239000	0.23838	0.733000	0.35199	0.0:0.6073:0.0:0.3927	6.754	0.22692	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.1	8200.14	42	chr5	177210738	.	C	T	8200.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.38;DP=1752;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.61;SOR=0.702	GT:AD:DP:GQ:PL	0/1:179,153:332:99:3725,0,4120	8	0	2	0
chr5	177332169	177332169	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon8:c.G988A:p.A330T	.	426	1086	10	0	0	10	0.00458295	.	.	.	721395	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.100	0.017381909764	0.0066	0.00319489	0.0055	0.0004	0.0016	0	0.0030	0.0081	0.0048	0.0051	0.0056274	870	154602	rs150674852	0.0071	0.0071	0.0071	0.0071	0.0080	0.0070	0.0069	0.0078	0.0078	0.0012	0.0020	0.0123	2.519e-05	0.0032	0.0057	0.0080	0.0067	0.0054	0.0054	0.0054	0.0060	0.0046	0.0082	0.0051	0.0049	0.0076	0.0074	0.0014	0.0614	0.0029	0.0115	0	0.0021	0.0068	0.0082	0.0061	0.0050	0.395	0.10659	T	0.73	0.05165	T	0.313	0.32852	B	0.019	0.18783	B	0.000002	0.62929	D	0.056604	0.999778	0.81001	D	1.185	0.30054	L	-0.07	0.63738	T	-0.87	0.23590	N	0.482	0.51672	-0.9177	0.45864	T	0.127	0.43360	T	10	0.0093584955	0.00211	T	0.017382	0.39055	T	0.100	0.28662	.	.	0.623404466153	0.62034	0.5442323423595946	0.54349	0.439953692951	0.44012	0.790500640869	0.80519	T	0.082949	0.36945	T	-0.362589	0.03985	T	-0.284216	0.46370	T	0.0076413674045253	0.00089	T	0.913209	0.69058	D	0.07518554	0.16922	0.112450674	0.27132	0.07518554	0.16921	0.112450674	0.27131	-4.055	0.24624	T	.	.	0.179	0.39081	B	.	.	4.257340	0.64674	24.7	0.99665045043375566	0.78202	0.94008	0.59836	D	AEFDBI	0.446123	0.50232	N	0.00288589649692123	0.41987	2.521	0.124096177169886	0.45785	2.835501	0.99998539257677	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.26	4.33	0.51083	3.146000	0.50327	5.812000	0.50015	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.886000	0.42526	0.2638:0.7362:0.0:0.0	13.182	0.59082	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006135	0.007576	0.05	923.43	75	chr5	177332169	.	C	T	923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.663;DP=399;ExcessHet=0;FS=1.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.57;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	9	0	1	0
chr5	177334341	177334341	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon7:c.G853A:p.E285K	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0426432264077	.	.	8.305e-06	9.686e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs752157302	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.16e-05	1.97e-05	1.97e-05	2.568e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0.0002	0.18	0.21968	T	0.439	0.17585	T	0.098	0.33274	B	0.012	0.23607	B	0.000543	0.43413	D	0.236509	1	0.81001	D	1.56	0.39490	L	-0.12	0.66474	T	-1.36	0.37759	N	0.653	0.66358	-0.7618	0.57307	T	0.232	0.59782	T	10	0.20031214	0.36073	T	0.042643	0.60572	D	0.139	0.37390	.	.	0.722217207747	0.71976	0.5594991315021695	0.55876	0.429706356098	0.43250	0.512192904949	0.40528	T	0.077065	0.35568	T	-0.143601	0.29316	T	-0.262522	0.48573	T	0.197739420922399	0.20291	T	0.929907	0.74113	D	0.0875577	0.20393	0.110137224	0.26552	0.0875577	0.20393	0.110137224	0.26551	-8.78	0.66270	D	.	.	0.297	0.52720	B	.;.;.	.;.;.	3.325963	0.45769	22.2	0.99495422180082405	0.67687	0.97132	0.72877	D	AEFDGBHI	0.816037	0.73787	D	0.0378841497933693	0.43587	2.648636	0.159010146506558	0.47622	2.989624	0.999999999957968	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.170000	0.71810	7.653000	0.63809	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.040000	0.14268	0.0:1.0:0.0:0.0	19.082	0.93169	934	0.15400	VIP36, lectin domain;VIP36, lectin domain;VIP36, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	35	chr5	177334341	.	C	T	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.743;DP=434;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.315;SOR=0.576	GT:AD:DP:GQ:PL	0/1:47,72:119:99:1711,0,1028	9	0	1	0
chr5	177460455	177460455	G	A	exonic	DBN1	.	nonsynonymous SNV	DBN1:NM_001364152:exon3:c.C128T:p.P43L,DBN1:NM_001363541:exon10:c.C932T:p.P311L,DBN1:NM_001364151:exon10:c.C929T:p.P310L,DBN1:NM_004395:exon10:c.C932T:p.P311L,DBN1:NM_080881:exon11:c.C938T:p.P313L	.	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0406502271423	0.0007	0.000399361	0.0004	0	0.0005	0	0	0.0005	0.0011	0.0002	0.0003946	61	154602	rs201548561	0.0006	0.0006	0.0007	0.0006	0.0019	0.0006	0.0006	0.0011	0.0008	0.0002	0.0009	0	0	1.872e-05	0.0019	0.0007	0.0008	0.0002	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0.0034	0.0007	0.0005	0	0.006	0.63226	D	0.197	0.62352	T	0.126	0.26920	B	0.023	0.19966	B	0.002409	0.36612	N	0.272192	0.999664	0.54805	D	0.63	0.15941	N	1.48	0.36512	T	-3.16	0.69593	D	0.103	0.25989	-1.0196	0.23845	T	0.094	0.35684	T	10	0.046273947	0.03798	T	0.04065	0.59492	D	0.047	0.12962	.	.	0.371749281113	0.36790	0.4139210643753722	0.41308	0.133712803413	0.15057	0.554601192474	0.46505	T	0.507646	0.82529	D	-0.430684	0.01468	T	-0.470685	0.25441	T	0.0518964342772961	0.05829	T	0.844016	0.56300	T	0.11552991	0.27261	0.100316726	0.23981	0.11552991	0.27261	0.100316726	0.23980	-5.253	0.41971	T	.	.	0.079	0.18247	B	.;.;.;.;.	.;.;.;.;.	2.575924	0.33391	19.33	0.99542721495968622	0.70586	0.70302	0.34535	D	AEFBHCI	0.299218	0.40833	N	-0.0399130748156171	0.40054	2.372222	0.0193831648239145	0.40615	2.426772	0.999999989175901	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.41	4.41	0.52588	2.014000	0.40571	6.557000	0.55928	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.107:0.0:0.893:0.0	8.213	0.30652	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	596.43	33	chr5	177460455	.	G	A	596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.158;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=1.27;SOR=0.698	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1177	9	0	1	0
chr5	178119848	178119848	C	T	exonic	N4BP3	.	nonsynonymous SNV	N4BP3:NM_015111:exon2:c.C265T:p.R89W	.	423	1071	28	0	0	28	0.0129032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0012	0.00658946	0.0048	0.0004	0.0015	0.0004	0	0.0019	0.0045	0.0254	0.0042173	652	154602	rs146962131	0.0026	0.0026	0.0020	0.0032	0.0227	0.0025	0.0025	0.0219	0.0215	0.0005	0.0013	0.0069	0.0002	0.0002	0.0078	0.0012	0.0035	0.0227	0.0020	0.0020	0.0017	0.0023	0.0228	0.0018	0.0018	0.0194	0.0181	0.0003	0.0362	0.0027	0.0063	0	0	0	0.0012	0.0014	0.0228	0.002	0.72154	D	0.004	0.74150	D	0.99	0.63424	D	0.306	0.41250	B	0.609281	0.10883	N	0.824734	0.98294	0.39953	D	1.355	0.33814	L	6.7	0.00500	T	-3.2	0.64710	D	0.549	0.57518	-0.1695	0.78440	T	0.002	0.00676	T	10	0.006507933	0.00147	T	.	.	.	0.161	0.41658	.	.	0.495573750707	0.49194	0.2948520595669952	0.29398	0.386809144495	0.39969	0.421651661396	0.28065	T	0.190676	0.54529	T	-0.451319	0.01109	T	-0.402812	0.33058	T	0.0434527799513868	0.04320	T	0.878312	0.59309	D	0.122188926	0.28717	0.1339366	0.32105	0.122188926	0.28717	0.1339366	0.32104	-6.308	0.48785	T	.	.	0.183	0.39748	B	.	.	4.428912	0.68660	25.3	0.99880150957412417	0.95653	0.81072	0.40555	D	AEFDBCI	0.501753	0.53446	D	0.375290659665955	0.60084	4.193801	0.434771537558559	0.63744	4.614519	0.999988595682931	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.662433	0.64102	0	.	.	5.5	5.5	0.81386	2.778000	0.47412	4.017000	0.41215	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1739:0.8261:0.0:0.0	11.920	0.52068	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.005051	0.009511	0.008772	0.000000	0.025862	0.006098	0.011364	0.05	2301.43	45	chr5	178119848	.	C	T	2301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.559;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.261;SOR=0.671	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1126	9	0	1	0
chr5	178120196	178120196	G	A	exonic	N4BP3	.	nonsynonymous SNV	N4BP3:NM_015111:exon3:c.G349A:p.V117M	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0227708778286	.	0.000798722	0.0005	0.0001	0	0	0	0	0	0.0053	0.0004398	68	154602	rs199745108	0.0003	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0036	0.0035	3.086e-05	0	0	2.557e-05	0	0.0002	9.168e-07	0.0005	0.0040	0.0001	0.0001	6.425e-05	0.0001	0.0033	6.507e-05	5.32e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.009	0.57480	D	0.007	0.69154	D	0.996	0.68779	D	0.804	0.58350	P	0.000002	0.62929	D	0.058075	0.915542	0.36528	D	1.1	0.28011	L	6.68	0.00503	T	-1.08	0.28084	N	0.629	0.64308	-0.0859	0.80420	T	0.003	0.00961	T	10	0.0107213855	0.00237	T	0.022771	0.45688	T	0.290	0.60924	0.231	0.15855	0.403040389579	0.39917	0.42261726607343436	0.42178	0.621881511677	0.56471	0.633500933647	0.57642	T	0.02436	0.18420	T	-0.287926	0.09845	T	-0.186096	0.55955	T	0.0830491445521488	0.10373	T	0.860314	0.55333	D	0.17975584	0.39062	0.18362398	0.41364	0.17975584	0.39062	0.18362398	0.41363	-5.483	0.41709	T	.	.	0.349	0.56494	A	.	.	3.822974	0.55215	23.6	0.99762070325050412	0.85172	0.92740	0.56430	D	AEFDBCI	0.517431	0.54356	D	0.463111815641377	0.64952	4.761637	0.462966171501338	0.65555	4.838451	0.999999999974479	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.662433	0.64102	0	.	.	5.28	5.28	0.74118	6.762000	0.74744	7.655000	0.63911	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	16.446	0.83773	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	784.43	35	chr5	178120196	.	G	A	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.483;DP=396;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.26;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1036	9	0	1	0
chr5	179033399	179033399	A	T	exonic	ZNF879	.	nonsynonymous SNV	ZNF879:NM_001353374:exon4:c.A1451T:p.Y484F,ZNF879:NM_001136116:exon5:c.A1451T:p.Y484F,ZNF879:NM_001353372:exon5:c.A1451T:p.Y484F,ZNF879:NM_001353373:exon5:c.A1451T:p.Y484F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00307344549787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300187175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.15770	T	0.15	0.32461	T	0.012	0.16265	B	0.021	0.19346	B	.	.	.	.	0.961924	0.26087	N	0.59	0.15444	N	2.22	0.18248	T	-3.17	0.64363	D	0.264	0.29889	-1.0624	0.11166	T	0.025	0.10598	T	9	0.0826537	0.13664	T	0.003073	0.06636	T	0.051	0.14325	0.426	0.47185	0.0762999501168	0.06990	0.035588677158009924	0.03505	0.572056272274	0.53309	0.718844532967	0.69878	T	0.044712	0.26900	T	-0.20099	0.20661	T	-0.526485	0.19639	T	0.321743225778202	0.25892	T	0.392161	0.09760	T	0.1695287	0.37474	0.15822533	0.36960	0.1695287	0.37474	0.15822533	0.36959	-7.126	0.54948	T	.	.	0.137	0.29806	B	.	.	3.269500	0.44751	22.0	0.98155012648826256	0.38722	0.05957	0.11915	N	AEFBHCI	.	.	.	-0.457217127871212	0.23497	1.262185	-0.342222538897062	0.26749	1.479602	0.19029390112816	0.17991	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.37	3.11	0.34883	0.544000	0.22960	6.738000	0.56476	0.756000	0.94297	0.001000	0.13787	1.000000	0.68203	0.999000	0.91618	0.6887:0.0:0.0:0.3113	6.780	0.22827	620	0.66037	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	650.43	42	chr5	179033399	.	A	T	650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=332;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-0.94;SOR=0.859	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,634	9	0	1	0
chr5	179078829	179078829	G	A	exonic	ZNF354C	.	nonsynonymous SNV	ZNF354C:NM_014594:exon5:c.G397A:p.E133K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00231498449783	.	.	4.13e-05	0	0	0	0	7.498e-05	0	0	3.23e-05	5	154602	rs762681749	2.531e-05	2.599e-05	1.634e-05	3.438e-05	0.0001	1.868e-05	1.631e-05	7.124e-05	5.482e-05	0	0	0	2.521e-05	0	0	2.248e-05	0	0.0001	1.971e-05	1.97e-05	1.285e-05	2.69e-05	7.24e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	0	0	0	0.855	0.02705	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.53	0.04852	T	1.24	0.01024	N	0.079	0.05414	-0.9354	0.43333	T	0.005	0.01833	T	9	0.045906514	0.03717	T	0.002315	0.04452	T	0.006	0.00375	.	.	0.0611884634855	0.05136	0.1739948721625231	0.17319	0.126884177599	0.14302	0.189793273807	0.00221	T	0.009367	0.08534	T	-0.511218	0.00494	T	-0.769452	0.02786	T	0.0258707684265326	0.01388	T	0.149885	0.01253	T	0.023638135	0.01120	0.042858846	0.05200	0.023638135	0.01120	0.042858846	0.05199	-3.21	0.12603	T	.	.	0.073	0.04806	B	.	.	-0.296983	0.02632	0.331	0.58858577528372591	0.06089	0.01373	0.04685	N	AEFBCI	0.017260	0.00440	N	-1.7755446845723	0.00607	0.02619398	-1.78419803419621	0.00811	0.0362045	0.00217861991519013	0.09210	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.87	-3.64	0.04225	-0.980000	0.03880	-0.131000	0.11618	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3497:0.1766:0.314:0.1597	0.979	0.01342	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1093.43	33	chr5	179078829	.	G	A	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.048;DP=423;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.869;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	9	0	1	0
chr5	179522679	179522679	C	T	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon1:c.C197T:p.P66L,C5orf60:NM_001305388:exon1:c.C197T:p.P66L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.136e-06	1.543e-05	5.335e-06	4.951e-06	0.0001	1.2e-06	8.1e-07	1.994e-05	8.08e-06	0.0001	0	0	0	0	0	0	2.764e-05	1.509e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	49.58	32	chr5	179522679	.	C	T	49.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=301;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0622;MLEAC=1;MLEAF=0.05;MQ=37.07;MQRankSum=-0.967;QD=16.53;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr5	179644824	179644824	G	A	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon1:c.C197T:p.P66L,C5orf60:NM_001305388:exon1:c.C197T:p.P66L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00775283603706	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866943228	5.718e-06	1.3e-05	4.231e-06	7.245e-06	6.336e-05	2.46e-06	1.78e-06	1.049e-05	3.92e-06	6.336e-05	0	0	0	0	0	2.781e-06	3.448e-05	1.262e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	0.999	0.77913	D	0.988	0.77976	D	.	.	.	.	1	0.08975	N	1.24	0.30952	L	.	.	.	.	.	.	.	.	-0.9758	0.35948	T	0.155	0.48636	T	8	0.21659702	0.38247	T	0.007753	0.20563	T	.	.	0.292	0.25400	.	.	0.016119422741370636	0.01567	.	.	.	.	.	.	.	.	-0.115666	0.33835	T	-0.403923	0.32928	T	0.339136657761011	0.26589	T	0.562644	0.19782	T	.	.	.	.	.	.	.	.	-3.522	0.16741	T	.	.	.	.	.	.	.	0.411975	0.07828	4.523	0.86328046283196314	0.16463	0.00447	0.02174	N	AEFDBI	0.037386	0.05132	N	-0.502103047588978	0.22012	1.172381	-0.771369689055998	0.15198	0.7981113	9.58122495297848E-5	0.04910	0.514905	0.20481	0	0.59043	0.45803	0	0.603688	0.36954	0	0.530356	0.10902	0	.	.	0.459	0.459	0.15890	0.497000	0.22222	0.162000	0.15417	-0.579000	0.04714	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	.	.	.	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1903.43	46	chr5	179644824	.	G	A	1903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.542;DP=963;ExcessHet=0;FS=1.228;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.96;MQRankSum=-6.311;QD=8.57;ReadPosRankSum=-0.243;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1410:.	9	0	1	0
chr5	179651623	179651623	A	C	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.A392C:p.Q131P,C5orf60:NM_001305388:exon4:c.A392C:p.Q131P	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.000399361	0.0021	0	0	0	0	0.0031	0	0.0025	0.0002689	7	26028	rs568386002	0.0007	0.0013	0.0007	0.0007	0.0032	0.0007	0.0007	0.0019	0.0015	0.0003	0.0003	0.0002	0	0.0005	0.0032	0.0008	0.0008	0.0005	0.0005	0.0009	0.0006	0.0004	0.0007	0.0004	0.0004	0.0006	0.0005	0.0003	0	0.0004	0.0003	0	0.0005	0	0.0007	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	128.43	19	chr5	179651623	.	A	C	128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.76;DP=190;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=31.77;MQRankSum=0.827;QD=5.58;ReadPosRankSum=-0.91;SOR=0.275	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,303	9	0	1	0
chr5	179651637	179651637	C	G	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.C406G:p.P136A,C5orf60:NM_001305388:exon4:c.C406G:p.P136A	.	417	1096	9	0	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.000399361	0.0030	0	0	0	0	0.0053	0	0.0021	0.0001921	5	26028	rs565761130	0.0006	0.0012	0.0006	0.0007	0.0027	0.0006	0.0006	0.0015	0.0012	0.0002	0.0003	0.0002	2.819e-05	0.0006	0.0027	0.0007	0.0007	0.0004	0.0005	0.0009	0.0005	0.0005	0.0007	0.0004	0.0004	0.0005	0.0005	0.0003	0	0.0003	0.0003	0	0.0009	0	0.0007	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	242.43	33	chr5	179651637	.	C	G	242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.185;DP=259;ExcessHet=0;FS=4.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.46;MQRankSum=1.32;QD=7.82;ReadPosRankSum=-2.149;SOR=0.119	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,700	9	0	1	0
chr5	179766269	179766269	C	T	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon2:c.C1259T:p.P420L	.	429	1084	9	0	0	9	0.00413413	.	.	.	2194661	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.072	0.0135658373898	0.0016	0.000399361	0.0008	0.0003	0.0005	0.0006	0.0002	0.0010	0	0.0007	0.0007568	117	154602	rs141578236	0.0015	0.0015	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0002	0.0004	0.0010	0.0003	0.0005	0.0005	0.0018	0.0013	0.0007	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0013	0.0013	0.0004	0	0.0001	0.0003	0.0008	9.454e-05	0.0034	0.0016	0.0009	0.0006	0.118	0.28148	T	0.065	0.44702	T	0.797	0.44809	P	0.036	0.22909	B	0.499679	0.11964	N	0.769658	0.999998	0.08975	N	1.95	0.52479	M	1.89	0.23688	T	-1.69	0.40274	N	0.213	0.23758	-1.0828	0.06814	T	0.038	0.16376	T	10	0.023789525	0.00633	T	0.013566	0.33074	T	0.072	0.21020	.	.	0.171220215726	0.16700	0.2508113824650609	0.24995	0.134283164794	0.15126	0.364984929562	0.20109	T	0.337541	0.70691	T	-0.569915	0.00222	T	-0.616048	0.11499	T	0.94418853521347	0.62009	D	.	.	.	0.054049257	0.10317	0.04752621	0.06865	0.054049257	0.10316	0.04752621	0.06865	-3.366	0.14602	T	.	.	0.080	0.07889	B	.	.	1.681768	0.21430	15.20	0.81440286825504127	0.13686	0.27725	0.23357	N	AEFDBI	0.242918	0.36428	N	-0.706381533095554	0.15842	0.8019813	-0.774979093623219	0.15110	0.7930227	0.999999959374119	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.591603	0.36755	0	.	.	4.88	1.55	0.22356	1.972000	0.40163	1.581000	0.27475	0.549000	0.26987	0.005000	0.17040	0.001000	0.17328	0.020000	0.11549	0.6938:0.3062:0.0:0.0	11.619	0.50367	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	920.43	34	chr5	179766269	.	C	T	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=0.601;SOR=0.612	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr5	179774539	179774539	C	G	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon5:c.C2713G:p.P905A	.	425	1095	2	0	0	2	0.000912409	.	.	.	699039	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	.	0.0033	0.00159744	0.0052	0.0008	0.0215	0	0.0021	0.0052	0.0035	0.0004	0.0049676	768	154602	rs61748800	0.0053	0.0053	0.0055	0.0051	0.0168	0.0052	0.0052	0.0158	0.0154	0.0008	0.0168	3.826e-05	2.519e-05	0.0029	0.0024	0.0059	0.0032	0.0006	0.0039	0.0039	0.0044	0.0034	0.0067	0.0037	0.0035	0.0058	0.0056	0.0009	0.0011	0.0067	0	0	0.0018	0.0034	0.0063	0.0019	0.0006	0.297	0.14645	T	0.416	0.14284	T	0.005	0.12996	B	0.004	0.10090	B	0.298891	0.14634	N	0.677967	0.99995	0.19072	N	2.155	0.60227	M	2.05	0.20664	T	-0.03	0.07444	N	0.1	0.08227	-0.9842	0.34022	T	0.019	0.07846	T	10	0.0029099286	0.00047	T	.	.	.	0.029	0.06676	.	.	0.2419029386	0.23804	0.14057527064282885	0.13980	0.112467527083	0.12694	0.334985375404	0.15686	T	0.245384	0.61467	T	-0.615728	0.00117	T	-0.642291	0.09503	T	0.00325560636022731	0.00034	T	.	.	.	0.020281695	0.00582	0.025148407	0.00551	0.020281695	0.00582	0.025148407	0.00551	-4.665	0.32978	T	.	.	0.055	0.00375	B	.	.	-0.247995	0.02853	0.402	0.50074755767569212	0.04320	0.15868	0.19120	N	AEFDBI	0.042855	0.06702	N	-1.02868833748212	0.08012	0.3741928	-0.965605066191839	0.10564	0.5328206	0.99991053419375	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.07	0.010	0.13404	0.093000	0.14925	-1.565000	0.05159	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.1633:0.1746:0.3255:0.3367	0.870	0.01134	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	842.43	34	chr5	179774539	.	C	G	842.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.191;DP=388;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.73;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	9	0	1	0
chr5	179848051	179848051	A	C	exonic	MRNIP	.	nonsynonymous SNV	MRNIP:NM_016175:exon3:c.T142G:p.S48A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	0.0020	0.00319489	0.0006	0.0064	0.0003	0	0	2.998e-05	0	0	0.0005821	90	154602	rs144141070	0.0002	0.0002	0.0002	0.0002	0.0061	0.0001	0.0001	0.0054	0.0051	0.0061	0.0003	0	0	0	0.0002	7.196e-06	0.0002	2.319e-05	0.0019	0.0019	0.0019	0.0019	0.0065	0.0017	0.0016	0.0059	0.0056	0.0065	0	0.0004	0	0	0	0	0	0.0028	0	0.033	0.48642	D	0.098	0.44302	T	0.518	0.77913	P	0.303	0.82059	B	0.000536	0.43581	D	0.096682	0.608983	0.81001	D	.	.	.	3.07	0.08547	T	-2.45	0.54864	N	0.582	0.67218	-0.8706	0.50484	T	0.082	0.32266	T	10	0.010886997	0.00240	T	.	.	.	0.122	0.33800	.	.	0.478527412683	0.47483	0.10570033243001774	0.10500	0.375511120277	0.39009	.	.	.	0.048918	0.28854	T	-0.425383	0.01582	T	-0.381614	0.35533	T	0.0326731065889735	0.02417	T	.	.	.	0.4383027	0.63293	0.36885592	0.62167	0.4383027	0.63293	0.36885592	0.62167	-13.135	0.89911	D	.	.	0.219	0.49557	B	.;.;.;.	.;.;.;.	4.062583	0.60295	24.2	0.99710250594401861	0.81283	0.92348	0.55504	D	AEFBI	0.452857	0.50624	N	0.456740576572804	0.64585	4.716573	0.423201915967778	0.63015	4.527004	0.895313921528195	0.25951	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	4.1	0.47196	3.491000	0.53015	7.242000	0.57903	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.889000	0.42754	1.0:0.0:0.0:0.0	9.776	0.39786	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	667.43	33	chr5	179848051	.	A	C	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.064;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.334;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	9	0	1	0
chr5	180739291	180739291	G	T	exonic	OR2Y1	.	stopgain	OR2Y1:NM_001001657:exon1:c.C768A:p.Y256X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317217	0.14332	N	0.577500	0.999999	0.58761	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356852	0.87010	D	0.274817	0.86841	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.661781	0.95556	35	0.96576477481801815	0.30315	0.07952	0.13936	N	AEFBI	0.036266	0.04805	N	-0.297113056523833	0.29260	1.621034	-0.657789544580995	0.18020	0.9608221	1.25829319878787E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.41	-0.355	0.11961	1.337000	0.33467	-0.186000	0.11084	-0.358000	0.05522	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.6238:0.0:0.3762:0.0	7.931	0.29061	846	0.36215	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1531.43	34	chr5	180739291	.	G	T	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.466;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-2.011;SOR=0.684	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1087	9	0	1	0
chr5	180792838	180792838	C	T	exonic	MGAT1	.	nonsynonymous SNV	MGAT1:NM_001114619:exon2:c.G134A:p.G45D,MGAT1:NM_001114620:exon2:c.G134A:p.G45D,MGAT1:NM_001364382:exon2:c.G134A:p.G45D,MGAT1:NM_001364383:exon2:c.G134A:p.G45D,MGAT1:NM_001364389:exon2:c.G134A:p.G45D,MGAT1:NM_001364390:exon2:c.G134A:p.G45D,MGAT1:NM_001364392:exon2:c.G134A:p.G45D,MGAT1:NM_002406:exon2:c.G134A:p.G45D,MGAT1:NM_001114617:exon3:c.G134A:p.G45D,MGAT1:NM_001114618:exon3:c.G134A:p.G45D,MGAT1:NM_001364377:exon3:c.G134A:p.G45D,MGAT1:NM_001364379:exon3:c.G134A:p.G45D,MGAT1:NM_001364380:exon3:c.G134A:p.G45D,MGAT1:NM_001364381:exon3:c.G134A:p.G45D,MGAT1:NM_001364384:exon3:c.G134A:p.G45D,MGAT1:NM_001364386:exon3:c.G134A:p.G45D,MGAT1:NM_001364387:exon3:c.G134A:p.G45D,MGAT1:NM_001364391:exon3:c.G134A:p.G45D,MGAT1:NM_001364393:exon3:c.G134A:p.G45D,MGAT1:NM_001364394:exon3:c.G134A:p.G45D,MGAT1:NM_001364395:exon3:c.G134A:p.G45D,MGAT1:NM_001364385:exon4:c.G134A:p.G45D,MGAT1:NM_001364388:exon4:c.G134A:p.G45D	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	0.0061	0.0161741	0.0147	0.0383	0.0032	0	0	0.0003	0	0.0273	0.0040168	621	154602	rs61743256	0.0020	0.0020	0.0015	0.0025	0.0233	0.0019	0.0019	0.0224	0.0221	0.0220	0.0015	0	2.727e-05	0	0.0009	2.762e-05	0.0028	0.0233	0.0078	0.0078	0.0073	0.0082	0.0247	0.0074	0.0072	0.0234	0.0229	0.0247	0	0.0025	0	0.0002	0	0	2.94e-05	0.0038	0.0219	1.0	0.02847	T	0.692	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	0.304491	0.14540	N	0.694372	1	0.08975	N	-1.39	0.00611	N	-1.63	0.82440	D	0.51	0.45222	N	0.085	0.07673	-0.9568	0.39771	T	0.131	0.44129	T	10	0.005622059	0.00125	T	.	.	.	0.184	0.45763	.	.	0.525087790474	0.52154	0.30169071396837066	0.30082	1.01688254697	0.74978	0.55193477869	0.46131	T	0.283365	0.66499	T	-0.410521	0.01971	T	-0.343537	0.39944	T	0.00227345686121769	0.00024	T	0.174183	0.04565	T	0.03107151	0.02881	0.05031648	0.07872	0.03107151	0.02881	0.05031648	0.07871	-4.975	0.36568	T	.	.	0.055	0.00563	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.079935	0.04862	1.454	0.7395565728014778	0.10517	0.00899	0.03527	N	AEFBI	0.069498	0.13758	N	-1.20238463057488	0.04965	0.2252661	-1.18210210160975	0.06208	0.2981238	0.999925400028581	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.71	3.41	0.38145	0.251000	0.18025	1.865000	0.29348	-0.189000	0.09497	0.000000	0.06391	0.992000	0.31684	0.004000	0.06068	0.0:0.2398:0.1766:0.5835	4.021	0.09152	884	0.28482	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005133	0.015789	0.002747	0.005952	0.000000	0.000000	0.000000	0.011538	0.05	998.43	40	chr5	180792838	.	C	T	998.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.932;DP=406;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.756;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	9	0	1	0
chr5	180948376	180948376	G	T	splicing	BTNL8	NM_001159707:exon4:c.460+1G>T;NM_024850:exon5:c.938+1G>T;NM_001159709:exon5:c.433+1G>T;NM_001040462:exon5:c.808+1G>T;NM_001159710:exon4:c.256+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.497772	0.00588	T	-0.952792	0.00253	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.110430	0.41958	21.4	0.74540741763671325	0.10733	0.00618	0.02733	N	AEFDGI	.	.	.	-0.0213162468113312	0.40893	2.436309	-0.486173433041473	0.22533	1.224393	3.71888966381913E-4	0.06745	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.057018	0.00518	0	0.107189	0.23204	1.48	-0.574	0.11150	0.718000	0.25537	0.809000	0.21733	0.502000	0.22824	0.554000	0.27377	0.084000	0.22431	0.006000	0.07323	0.2082:0.0:0.4859:0.3059	2.107	0.03469	.	.	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2862.17	33	chr5	180948376	.	G	T	2862.17	.	AC=2;AF=0.1;AN=20;DP=452;ExcessHet=0;FS=1.236;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=58.27;QD=32.9;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1133:.	9	1	0	0
chr5	181195354	181195354	G	A	exonic	TRIM7	.	nonsynonymous SNV	TRIM7:NM_203297:exon5:c.C802T:p.R268W,TRIM7:NM_203293:exon7:c.C1348T:p.R450W,TRIM7:NM_203294:exon7:c.C724T:p.R242W,TRIM7:NM_203295:exon7:c.C724T:p.R242W,TRIM7:NM_203296:exon7:c.C724T:p.R242W	.	432	1051	38	1	0	40	0.0186741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	.	0.0036	0.0117812	0.0165	0.0014	0.0309	0.0237	0	0.0074	0.0152	0.0361	0.0080271	1241	154602	rs61751566	0.0060	0.0061	0.0052	0.0068	0.0315	0.0059	0.0058	0.0305	0.0301	0.0008	0.0167	0.0215	0.0114	0.0002	0.0147	0.0033	0.0098	0.0315	0.0052	0.0052	0.0048	0.0057	0.0321	0.0049	0.0048	0.0279	0.0264	0.0014	0.0154	0.0131	0.0170	0.0148	0.0003	0.0136	0.0031	0.0061	0.0321	0.025	0.48642	D	0.017	0.60337	D	1.0	0.90584	D	1.0	0.97372	D	0.000066	0.52346	D	0.000000	0.99971	0.20638	N	1.18	0.29980	L	-0.43	0.69657	T	-2.16	0.48850	N	0.21	0.23758	-0.7029	0.60299	T	0.243	0.61131	T	10	0.0049039125	0.00105	T	.	.	.	0.352	0.67326	.	.	.	.	0.6146241830987929	0.61394	1.70361355796	0.90347	0.636679887772	0.58093	T	0.109151	0.42279	T	-0.401669	0.02258	T	-0.325371	0.41983	T	0.0562181223179985	0.06560	T	0.884412	0.60756	D	0.0585932	0.11805	0.084190056	0.19349	0.0585932	0.11804	0.084190056	0.19349	-8.731	0.67788	D	.	.	0.349	0.65506	A	.;.;.;.	.;.;.;.	3.155350	0.42731	21.6	0.99636088301373116	0.76326	0.07290	0.13312	N	AEFDGBI	0.373871	0.45898	N	-0.626117239998297	0.18163	0.9407484	-0.817992306727555	0.14060	0.7326963	0.999906244961365	0.45458	0.554377	0.28877	0	0.588066	0.40923	0	0.596394	0.31383	0	0.567892	0.33627	0	.	.	4.79	0.698	0.17247	0.309000	0.19094	1.546000	0.27261	-1.131000	0.01456	0.000000	0.06391	0.941000	0.28781	0.074000	0.16894	0.0:0.0:0.3805:0.6195	11.825	0.51537	.	.	SPRY domain|B30.2/SPRY domain|SPRY domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012208	0.005263	0.006812	0.020588	0.000000	0.017544	0.003067	0.015267	0.1	1812.14	33	chr5	181195354	.	G	A	1812.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.7;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.006;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	8	0	2	0
chr5	181224202	181224202	G	C	exonic	TRIM41	.	nonsynonymous SNV	TRIM41:NM_033549:exon1:c.G203C:p.G68A,TRIM41:NM_201627:exon1:c.G203C:p.G68A	.	367	1147	8	0	0	8	0.00347524	.	.	.	3617753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0106345173278	7.7e-05	.	0.0001	0	0.0003	0	0	9.005e-05	0.0022	0.0002	0.0001552	24	154602	rs373135410	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0002	5.978e-05	0.0004	0.0007	0	0	0.0007	8.455e-05	0.0003	0.0004	6.597e-05	6.578e-05	5.159e-05	8.102e-05	0.0001	3.53e-05	2.626e-05	2.27e-05	1.126e-05	2.425e-05	0	0.0001	0.0009	0	0	0	5.893e-05	0	0	0.543	0.21801	T	0.287	0.21210	T	0.0	0.02946	B	0.0	0.06944	B	0.891188	0.07296	N	1.075720	1	0.08975	N	0.69	0.16971	N	0.96	0.53302	T	-0.56	0.17834	N	0.17	0.19861	-1.0331	0.19459	T	0.060	0.25273	T	10	0.020757645	0.00484	T	0.010635	0.27388	T	0.030	0.07022	.	.	0.330666884367	0.32679	0.20777805653411763	0.20693	0.46112784952	0.45662	0.460249185562	0.33344	T	0.00583	0.05277	T	-0.21442	0.18760	T	-0.545776	0.17733	T	0.0365745412151122	0.03081	T	0.377362	0.15048	T	0.039153162	0.05353	0.06378279	0.12685	0.039153162	0.05352	0.06378279	0.12684	-4.737	0.33848	T	.	.	0.091	0.12985	B	.;.	.;.	1.163557	0.15528	11.92	0.97159027317968194	0.32620	0.06011	0.11976	N	AEFDGBHIJ	0.051196	0.09022	N	-1.09228090239247	0.06784	0.3133192	-1.02419746798591	0.09254	0.4593553	0.999999996496839	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.372554	0.06265	0	.	.	4.75	1.68	0.23219	0.217000	0.17389	0.759000	0.21299	-0.508000	0.05005	0.055000	0.21596	0.091000	0.22535	0.547000	0.30103	0.0:0.3053:0.5377:0.157	8.848	0.34340	.	.	.;Zinc finger, RING-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	841.43	83	chr5	181224202	.	G	C	841.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=396;ExcessHet=0;FS=5.769;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.945;SOR=0.313	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,958	9	0	1	0
chr6	2765671	2765671	C	G	exonic	WRNIP1	.	nonsynonymous SNV	WRNIP1:NM_020135:exon1:c.C49G:p.Q17E,WRNIP1:NM_130395:exon1:c.C49G:p.Q17E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.327234420125	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279053843	3.568e-06	4.104e-06	4.263e-06	2.867e-06	3.67e-06	1.05e-06	7.6e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.67e-06	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.948	0.02632	T	0.009	0.17086	B	0.005	0.16012	B	0.110807	0.19426	N	0.526610	0.940635	0.26802	N	0.345	0.11182	N	0.87	0.47130	T	-0.29	0.12283	N	0.217	0.30233	-1.0920	0.05207	T	0.033	0.14290	T	10	0.082612574	0.13653	T	0.327234	0.91648	D	0.056	0.15993	0.227	0.15257	0.082315109003	0.07666	0.2009018072086573	0.20007	0.227693720745	0.25324	0.802092075348	0.82281	T	0.103522	0.41224	T	-0.204974	0.20091	T	-0.532208	0.19066	T	0.220917823526536	0.21510	T	0.59884	0.22311	T	0.5717651	0.71157	0.4988735	0.71025	0.5717651	0.71158	0.4988735	0.71026	-6.404	0.49540	T	.	.	0.076	0.28290	B	.;.;.	.;.;.	2.979341	0.39734	21.0	0.86627505703342145	0.16663	0.57098	0.30288	D	AEFDGBHCI	0.253274	0.37280	N	-0.741516557001933	0.14866	0.7441575	-0.632991990409049	0.18648	0.9970984	0.999999999998428	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.54	2.64	0.30504	1.340000	0.33501	5.448000	0.48638	0.427000	0.20867	0.645000	0.28128	1.000000	0.68203	0.992000	0.67800	0.3823:0.6177:0.0:0.0	9.488	0.38107	860	0.33753	Zinc finger, Rad18-type putative;.;Zinc finger, Rad18-type putative	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	499.43	33	chr6	2765671	.	C	G	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.467;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=1.61;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,941	9	0	1	0
chr6	3105554	3105554	C	A	exonic	RIPK1	.	nonsynonymous SNV	RIPK1:NM_001354931:exon8:c.C941A:p.A314D,RIPK1:NM_001354930:exon9:c.C1079A:p.A360D,RIPK1:NM_003804:exon9:c.C1079A:p.A360D,RIPK1:NM_001354932:exon10:c.C590A:p.A197D,RIPK1:NM_001354933:exon10:c.C590A:p.A197D,RIPK1:NM_001354934:exon10:c.C590A:p.A197D,RIPK1:NM_001317061:exon11:c.C590A:p.A197D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0368957835744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.12754	T	0.291	0.20944	T	0.839	0.46454	P	0.209	0.37260	B	0.211035	0.16365	N	0.662530	0.61945	0.32692	D	2.19	0.61577	M	-1.17	0.78199	T	-0.94	0.25118	N	0.226	0.25377	-0.5123	0.68202	T	0.327	0.69513	T	10	0.1982145	0.35783	T	0.036896	0.57280	D	0.222	0.51872	0.075	0.00517	0.921689469548	0.92089	0.46873442237795304	0.46792	0.646045261288	0.58030	0.365286231041	0.20153	T	0.258067	0.62918	T	-0.0586109	0.43124	T	-0.321967	0.42360	T	0.760810077190399	0.43898	D	0.689231	0.29860	T	0.19935434	0.41872	0.17352605	0.39686	0.19935434	0.41871	0.17352605	0.39685	-3.452	0.15766	T	.	.	0.181	0.39408	B	.;.	.;.	2.095782	0.26665	17.20	0.99148923077370732	0.53765	0.66017	0.32933	D	AEFBI	0.102115	0.20493	N	0.0178851313427203	0.42667	2.575263	-0.0122447630503433	0.39161	2.31775	0.0142756002084906	0.12576	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	2.8	0.31881	0.977000	0.29072	0.239000	0.16284	0.599000	0.40250	0.639000	0.28076	0.008000	0.19753	0.719000	0.34739	0.0:0.4552:0.5448:0.0	17.077	0.86464	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1311.43	35	chr6	3105554	.	C	A	1311.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.958;DP=391;ExcessHet=0;FS=4.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=1.41;SOR=1.244	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1129	9	0	1	0
chr6	3225487	3225487	C	G	exonic	TUBB2B	.	nonsynonymous SNV	TUBB2B:NM_178012:exon4:c.G602C:p.C201S	Polymicrogyria, symmetric or asymmetric, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	YES	168565	Inborn_genetic_diseases|not_specified|TUBB2B-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.275	0.0613303524451	.	.	7.863e-05	0.0001	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs201922441	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	8.964e-05	0.0001	0.0008	7.559e-05	9.375e-05	0.0002	0.0002	0.0003	6.958e-05	0.0004	0.0007	0.0005	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0003	0.0009	0.0002	0.0002	0	0.0006	0	0.0002	.	.	.	0.017	0.60337	D	0.001	0.07471	B	0.67	0.53116	P	0.002628	0.36208	N	0.241597	1	0.81001	D	3.39	0.91563	M	-0.41	0.69413	T	-7.5	0.95045	D	0.275	0.31140	0.082	0.83851	D	0.549	0.83470	D	10	0.2984606	0.47403	T	0.06133	0.68297	D	0.275	0.59130	0.414	0.45216	0.678660702044	0.67593	0.9700526684229877	0.96993	.	.	0.352989375591	0.18361	T	0.450998	0.79190	T	-0.211677	0.19143	T	-0.277408	0.47068	T	0.367475257719389	0.27700	T	0.451355	0.12777	T	0.849223	0.87278	0.8629339	0.92380	0.849223	0.87280	0.8629339	0.92380	-8.592	0.65036	D	0.5069341803226962	0.58124	0.326	0.54954	B	.	.	1.051836	0.14328	10.91	0.96260038485795019	0.29212	0.94036	0.59919	D	AEFGI	0.647943	0.62294	D	0.160005011352321	0.49285	3.130755	0.177182060528303	0.48600	3.073711	0.999999723471481	0.74766	0.732398	0.92422	0	0.693144	0.66847	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.17	4.27	0.50009	0.973000	0.29020	-4.760000	0.01999	-0.849000	0.02733	1.000000	0.71638	0.000000	0.08366	0.764000	0.36293	0.0:0.8609:0.1391:0.0	15.507	0.75482	843	0.36859	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1076.43	42	chr6	3225487	.	C	G	1076.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.699;DP=541;ExcessHet=0;FS=0.573;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.74;MQRankSum=-8.595;QD=5.61;ReadPosRankSum=3.4;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr6	4032374	4032374	G	A	exonic	PRPF4B	.	nonsynonymous SNV	PRPF4B:NM_003913:exon2:c.G857A:p.R286H	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	.	0.0018	0.000998403	0.0040	0.0002	0.0003	0.0023	0.0174	0.0049	0.0100	0.0001	0.0033311	515	154602	rs45509297	0.0028	0.0028	0.0027	0.0029	0.0026	0.0028	0.0027	0.0025	0.0025	8.961e-05	0.0003	0.0052	0.0009	0.0165	0.0003	0.0026	0.0022	0.0001	0.0033	0.0033	0.0026	0.0042	0.0040	0.0031	0.0030	0.0036	0.0034	0.0001	0	0.0002	0.0049	0.0023	0.0188	0	0.0040	0.0009	0.0004	0.002	0.72154	D	0.117	0.36365	T	0.988	0.62325	D	0.52	0.48197	P	0.000005	0.62929	D	0.000000	0.999783	0.49076	D	1.59	0.40313	L	-0.44	0.69777	T	-0.97	0.25770	N	0.278	0.31478	-0.6626	0.62161	T	0.216	0.57732	T	10	0.006115675	0.00138	T	.	.	.	0.177	0.44549	.	.	0.587019249841	0.58375	0.0039168402482609044	0.00366	0.881774026821	0.69799	0.524154186249	0.42212	T	0.044904	0.26958	T	-0.2849	0.10154	T	-0.175901	0.56901	T	0.0499941572531356	0.05499	T	0.945505	0.79230	D	0.13211302	0.30773	0.131003	0.31465	0.13211302	0.30773	0.131003	0.31464	-6.57	0.50823	T	.	.	0.158	0.34992	B	.	.	4.024187	0.59457	24.1	0.99930672251191555	0.99334	0.98727	0.86082	D	AEFBI	0.740606	0.68480	D	0.426179049560821	0.62865	4.509797	0.443718479225165	0.64315	4.683828	0.999999999962352	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	5.313000	0.65584	11.898000	0.99275	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.841000	0.39698	0.0:0.0:1.0:0.0	20.279	0.98503	510	0.75209	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	729.43	37	chr6	4032374	.	G	A	729.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.678;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.352;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr6	4068899	4068899	T	A	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.A1324T:p.M442L	.	429	1013	73	5	2	85	0.0393551	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00254959475138	.	0.000399361	0.0007	9.628e-05	0.0004	0	0	0.0010	0.0011	0.0004	0.0006339	98	154602	rs10485172	0.0007	0.0007	0.0007	0.0007	0.0006	0.0007	0.0007	0.0005	0.0004	0.0001	0.0006	0.0127	0	1.872e-05	0.0005	0.0005	0.0017	0.0006	0.0008	0.0008	0.0009	0.0007	0.0010	0.0006	0.0006	0.0007	0.0005	9.628e-05	0	0.0010	0.0118	0	0	0	0.0007	0.0009	0.0004	0.323	0.13436	T	0.785	0.04260	T	0.0	0.02946	B	0.0	0.01387	B	0.504377	0.11913	N	0.772232	1	0.08975	P	0.69	0.16971	N	2.76	0.11515	T	-0.4	0.13805	N	0.112	0.09914	-0.9387	0.42822	T	0.007	0.02399	T	9	0.005336553	0.00117	T	0.00255	0.05121	T	0.010	0.01040	0.178	0.08503	0.0138822411134	0.00435	0.023653734719694588	0.02317	0.028765286346	0.02960	0.251596212387	0.03938	T	0.002404	0.01797	T	-0.541281	0.00329	T	-0.653379	0.08720	T	0.000713665299098318	0.00006	T	0.379762	0.09155	T	0.079567924	0.18186	0.079647265	0.17948	0.079567924	0.18185	0.079647265	0.17948	-1.4	0.01571	T	.	.	0.138	0.30022	B	.;.	.;.	0.119828	0.05175	1.692	0.71633733798480204	0.09696	0.09787	0.15463	N	AEFCI	0.105604	0.21097	N	-1.05393287827125	0.07510	0.3491363	-1.05165221930719	0.08672	0.4275753	0.756801813423254	0.23447	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.94	1.03	0.19161	-0.042000	0.12016	-3.513000	0.02730	-1.676000	0.00793	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.1922:0.1795:0.6283	4.043	0.09243	634	0.64659	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	6744.2	33	chr6	4068899	.	T	A	6744.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.626;DP=778;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.3;SOR=0.655	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1166	9	0	1	0
chr6	6625004	6625004	T	G	exonic	LY86	.	nonsynonymous SNV	LY86:NM_004271:exon2:c.T215G:p.I72S	.	537	980	5	0	0	5	0.00254453	.	.	.	3449329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.213	0.0220517237883	0.0005	0.000199681	0.0011	0.0003	0.0007	0	0.0005	0.0016	0.0078	0.0009	0.0006339	98	154602	rs142377958	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0	7.538e-05	4.055e-05	0	0.0009	0	0.0002	0.0005	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	4.81e-05	0	0.0002	0	0.0002	0.0011	0	0.0003	0	0.0004	0.013	0.53900	D	0.004	0.74150	D	0.956	0.54666	P	0.947	0.68407	D	0.690052	0.10184	N	0.856006	0.999963	0.18878	N	2.015	0.55033	M	0.96	0.42888	T	-2.43	0.53258	N	0.604	0.62188	-1.0062	0.28095	T	0.124	0.42694	T	10	0.15228179	0.28767	T	0.022052	0.44897	T	0.213	0.50496	.	.	0.597897742083	0.59469	0.7460244882594081	0.74548	0.055780197225	0.06166	0.416569828987	0.27366	T	0.549036	0.84697	D	-0.349318	0.04771	T	-0.324989	0.42026	T	0.0519274303869505	0.05834	T	0.745725	0.36599	T	0.52061373	0.68294	0.2633731	0.52142	0.52061373	0.68295	0.2633731	0.52141	-4.293	0.28079	T	.	.	0.807	0.77631	P	.;.	.;.	4.520772	0.70884	25.6	0.99357756041688616	0.60862	0.29554	0.23852	N	AEBIJ	0.208364	0.33445	N	0.226450668191904	0.52485	3.422264	0.135614723311456	0.46385	2.885278	0.754531296989716	0.23412	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.26	4.08	0.46880	1.558000	0.35917	4.991000	0.46528	0.665000	0.62972	0.321000	0.25511	0.999000	0.35428	0.996000	0.76049	0.0:0.0872:0.0:0.9128	9.043	0.35489	968	0.07033	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	947.43	37	chr6	6625004	.	T	G	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.106;DP=402;ExcessHet=0;FS=1.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.222;SOR=0.969	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1284	9	0	1	0
chr6	7229372	7229372	A	T	exonic	RREB1	.	nonsynonymous SNV	RREB1:NM_001003698:exon10:c.A1273T:p.T425S,RREB1:NM_001003699:exon10:c.A1273T:p.T425S,RREB1:NM_001003700:exon10:c.A1273T:p.T425S,RREB1:NM_001168344:exon10:c.A1273T:p.T425S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00361411363741	.	.	5.778e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs751432487	1.231e-05	1.231e-05	1.225e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	9.24e-06	4.56e-06	0	0	0	0	1.872e-05	0.0002	1.079e-05	1.656e-05	3.478e-05	6.576e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.415	0.16628	T	0.707	0.07292	T	0.077	0.24313	B	0.017	0.18140	B	0.016258	0.28027	N	0.241593	0.999988	0.18198	N	0.205	0.09354	N	3.07	0.09822	T	-0.8	0.24898	N	0.055	0.04913	-0.9313	0.43948	T	0.003	0.00897	T	10	0.055932343	0.06190	T	0.003614	0.08278	T	0.020	0.03691	0.285	0.24280	0.441910947893	0.43811	0.2914215984849438	0.29055	0.387038896173	0.39991	0.432025998831	0.29485	T	0.011221	0.10036	T	-0.442837	0.01244	T	-0.717516	0.04916	T	0.0537431053817272	0.06146	T	0.673733	0.28700	T	0.039908458	0.05599	0.02555298	0.00604	0.039908458	0.05598	0.02555298	0.00604	-3.374	0.14775	T	.	.	0.110	0.38640	B	.;.;.;.;.	.;.;.;.;.	0.053289	0.04664	1.314	0.7239091758238223	0.09957	0.35374	0.25287	N	AEFDGBCI	0.064155	0.12441	N	-0.980518584683815	0.09020	0.4252166	-0.878390576855441	0.12606	0.6494514	0.757297897769133	0.23454	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.47	1.71	0.23429	0.570000	0.23357	0.971000	0.23058	0.756000	0.94297	0.205000	0.24367	0.022000	0.20871	0.792000	0.37394	0.5537:0.0:0.2284:0.218	4.196	0.09904	716	0.55970	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4032.43	92	chr6	7229372	.	A	T	4032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=888;ExcessHet=0;FS=0.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=-3.487;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	9	0	1	0
chr6	7411419	7411419	G	C	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon14:c.G1045C:p.E349Q,RIOK1:NM_031480:exon14:c.G1357C:p.E453Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.032129703999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.283	0.21478	T	0.898	0.49442	P	0.352	0.42883	B	0.000001	0.62929	D	0.096591	1	0.81001	D	0.145	0.08828	N	3.34	0.06063	T	-0.87	0.23590	N	0.338	0.37923	-0.7535	0.57752	T	0.007	0.02478	T	10	0.21544152	0.38097	T	0.03213	0.54036	D	0.225	0.52323	0.335	0.32329	0.388812400583	0.38497	0.3162422768940247	0.31537	0.230302317014	0.25578	0.527692854404	0.42709	T	0.013255	0.11500	T	-0.0972108	0.36887	T	-0.377413	0.36026	T	0.585103784492092	0.35815	D	0.855114	0.54241	D	0.1738056	0.38149	0.18711801	0.41924	0.1738056	0.38149	0.18711801	0.41923	-4.263	0.27655	T	.	.	0.130	0.27939	B	.	.	4.028609	0.59550	24.1	0.99713077346358581	0.81493	0.99847	0.99816	D	AEFBI	0.866036	0.78533	D	0.345006990906183	0.58475	4.020116	0.477039224821321	0.66470	4.956473	0.999999422754696	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	8.892000	0.92141	9.689000	0.81268	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.632	0.91319	664	0.61548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	131.78	78	chr6	7411419	.	G	C	131.78	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.634;DP=940;ExcessHet=1.5895;FS=160.175;InbreedingCoeff=-0.3345;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.831;SOR=10.2	GT:AD:DP:GQ:PL	0/1:68,19:94:72:72,0,1043	4	0	4	2
chr6	7414350	7414350	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon16:c.G1244A:p.R415H,RIOK1:NM_031480:exon16:c.G1556A:p.R519H	.	430	1039	50	3	0	56	0.0262418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0076	0.0061901	0.0086	0.0016	0.0034	0.0001	0.0116	0.0094	0.0122	0.0165	0.0081241	1256	154602	rs56160149	0.0100	0.0100	0.0097	0.0102	0.0193	0.0098	0.0098	0.0185	0.0182	0.0015	0.0037	0.0044	5.043e-05	0.0103	0.0186	0.0102	0.0097	0.0193	0.0075	0.0075	0.0071	0.0078	0.0185	0.0071	0.0070	0.0154	0.0142	0.0020	0	0.0043	0.0049	0.0002	0.0127	0.0204	0.0106	0.0100	0.0185	0.266	0.16251	T	0.256	0.23298	T	0.001	0.07471	B	0.001	0.04355	B	0.593928	0.05607	N	1.421560	1	0.08975	N	0.34	0.10450	N	3.33	0.06138	T	-1.85	0.43334	N	0.101	0.08366	-0.9141	0.46338	T	0.003	0.00994	T	10	0.0030825436	0.00051	T	.	.	.	0.039	0.10176	.	.	0.139678290688	0.13603	0.028634318525073733	0.02813	0.216403637423	0.24162	0.187236070633	0.00180	T	0.018689	0.15024	T	-0.704744	0.00034	T	-0.770812	0.02741	T	0.010509738622555	0.00146	T	0.531747	0.17685	T	0.017672015	0.00293	0.028782748	0.01148	0.017672015	0.00293	0.028782748	0.01148	-4.241	0.27341	T	.	.	0.055	0.00375	B	.	.	-0.388696	0.02254	0.232	0.83854462349201608	0.14957	0.01415	0.04780	N	AEFBI	0.031459	0.03370	N	-1.21082851355945	0.04841	0.2193715	-1.21036202125596	0.05743	0.2744785	0.943901780032789	0.27591	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	-3.49	0.04424	-0.244000	0.08921	-1.164000	0.06144	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7541:0.0:0.2459:0.0	11.651	0.50548	668	0.61153	.	BMP6	Brain_Nucleus_accumbens_basal_ganglia	.	.	rs56160149	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.010101	0.004076	0.008772	0.000000	0.000000	0.051829	0.011364	0.05	1181.43	33	chr6	7414350	.	G	A	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.08;DP=397;ExcessHet=0;FS=0.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.272;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr6	7727550	7727550	C	G	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon1:c.C595G:p.P199A	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.81565281711	.	0.00179712	0.0008	0	0.0002	0	0	5.576e-05	0.0062	0.0049	0.0006145	95	154602	rs551211683	0.0003	0.0003	0.0002	0.0005	0.0043	0.0003	0.0003	0.0040	0.0038	0	0.0001	0	0	0	0.0005	5.857e-05	0.0004	0.0043	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	0	0	0	0	0	0	0	4.41e-05	0	0.0068	0.142	0.25457	T	0.155	0.31936	T	0.02	0.18235	B	0.074	0.28220	B	0.058458	0.22401	N	0.403406	0.540608	0.31416	N	1.7	0.43825	L	-0.67	0.72458	T	-2.26	0.50502	N	0.235	0.26475	-1.0599	0.11781	T	0.113	0.40422	T	10	0.03730288	0.02076	T	0.815653	0.98565	D	0.153	0.40148	0.586	0.71371	0.565853658169	0.56249	0.40333507738894464	0.40249	0.166981265206	0.18835	0.812991023064	0.83951	D	0.48977	0.81485	T	-0.469915	0.00851	T	-0.447647	0.27957	T	0.0264850156980962	0.01472	T	0.520648	0.16939	T	0.04903649	0.08643	0.07285167	0.15764	0.04903649	0.08643	0.07285167	0.15763	-2.918	0.09324	T	.	.	0.056	0.00478	B	.	.	1.543180	0.19785	14.44	0.98261524856137827	0.39667	0.81299	0.40732	D	AEFDBCI	0.187345	0.31464	N	-0.500665860251751	0.22058	1.175214	-0.455199300149532	0.23402	1.27599	0.999999991826346	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.56214	0.19341	0	.	.	3.63	2.33	0.27981	1.659000	0.37003	0.087000	0.14465	-0.372000	0.05439	0.761000	0.29254	0.004000	0.18990	0.068000	0.16518	0.0:0.689:0.1743:0.1367	6.311	0.20374	889	0.27310	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.05	1499.43	40	chr6	7727550	.	C	G	1499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.279;DP=473;ExcessHet=0;FS=0.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.465;SOR=0.784	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr6	7845308	7845308	A	G	exonic	BMP6	.	nonsynonymous SNV	BMP6:NM_001718:exon2:c.A833G:p.Q278R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0425946834422	7.7e-05	.	8.293e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs143680665	4.105e-06	4.104e-06	2.723e-06	5.501e-06	2.237e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	2.237e-05	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.192	0.28300	T	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.84330	D	0.055933	0.999999	0.58761	D	1.895	0.50365	L	-0.11	0.64445	T	-3.19	0.64593	D	0.856	0.85238	-0.5080	0.68360	T	0.300	0.67148	T	10	0.8787384	0.87176	D	0.042595	0.60546	D	0.560	0.81946	.	.	0.898848323249	0.89784	0.6566289642367061	0.65598	0.694681400389	0.60780	0.568130135536	0.48413	T	0.762856	0.93589	D	0.27929	0.81255	D	0.163405	0.81014	D	0.959666728973389	0.65595	D	0.846715	0.52677	T	0.51616514	0.68038	0.46701106	0.69077	0.51616514	0.68039	0.46701106	0.69077	-10.555	0.77162	D	.	.	0.690	0.72561	P	.	.	4.264778	0.64845	24.8	0.99846705667567659	0.92663	0.98048	0.79160	D	AEFBCI	0.843529	0.76055	D	0.702510250612857	0.79797	7.154241	0.694715201985124	0.81974	7.654477	0.999999999737989	0.74766	0.722319	0.85440	0	0.610034	0.51514	0	0.616094	0.41390	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	8.630000	0.90753	11.088000	0.85875	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.212	0.72923	835	0.38313	TGF-beta, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	808.43	34	chr6	7845308	.	A	G	808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.038;DP=414;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=0.122;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr6	8430019	8430019	C	A	exonic	SLC35B3	.	nonsynonymous SNV	SLC35B3:NM_001370477:exon2:c.G46T:p.V16L,SLC35B3:NM_001370478:exon2:c.G46T:p.V16L,SLC35B3:NM_001370479:exon2:c.G46T:p.V16L,SLC35B3:NM_001142540:exon3:c.G142T:p.V48L,SLC35B3:NM_001142541:exon3:c.G142T:p.V48L,SLC35B3:NM_001370476:exon3:c.G142T:p.V48L,SLC35B3:NM_015948:exon3:c.G142T:p.V48L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0117770998422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.25255	T	0.171	0.30339	T	0.008	0.14655	B	0.014	0.16862	B	0.000187	0.48115	D	0.219196	0.996811	0.45107	D	0.895	0.22405	L	1.4	0.33630	T	-0.7	0.19933	N	0.265	0.30004	-1.1037	0.03672	T	0.051	0.21883	T	9	0.17437112	0.32312	T	0.011777	0.29743	T	0.014	0.01968	0.234	0.16305	0.184867976434	0.18130	0.43189125906447356	0.43106	0.0979166354652	0.11043	0.468758165836	0.34509	T	0.017813	0.14467	T	-0.161146	0.26583	T	-0.469251	0.25597	T	0.804872393608093	0.46688	D	0.910709	0.68343	D	0.12774728	0.29885	0.079569146	0.17924	0.12774728	0.29885	0.079569146	0.17923	-2.908	0.09223	T	.	.	0.144	0.47459	B	.;.;.	.;.;.	2.723338	0.35625	19.95	0.99117876489701484	0.52906	0.91461	0.53581	D	AEFDBIJ	0.418205	0.48593	N	-0.0869479204730967	0.37963	2.216433	0.0650070722537117	0.42804	2.595461	0.934653534519832	0.27180	0.75658	0.98901	0	0.743671	0.97443	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.88	4.09	0.47038	1.942000	0.39870	2.748000	0.34514	0.589000	0.31548	1.000000	0.71638	0.999000	0.35428	0.979000	0.57723	0.0:0.7267:0.0:0.2733	9.190	0.36352	862	0.33134	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1523.43	34	chr6	8430019	.	C	A	1523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.856;DP=481;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.82;SOR=0.808	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	9	0	1	0
chr6	10586156	10586156	T	C	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_145655:exon1:c.T167C:p.M56T	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00678914	0.0035	9.61e-05	0.0003	0	0	2.997e-05	0	0.0251	0.0030142	466	154602	rs535308444	0.0015	0.0015	0.0007	0.0022	0.0237	0.0014	0.0014	0.0228	0.0224	8.961e-05	2.236e-05	0.0005	2.519e-05	0	0.0009	9.892e-06	0.0014	0.0237	0.0009	0.0009	0.0005	0.0014	0.0288	0.0008	0.0008	0.0249	0.0234	0	0	0	0.0006	0	0	0	1.47e-05	0	0.0288	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.05	0.08721	T	0.02	0.06739	N	0.07	0.04307	-0.9106	0.46781	T	0.004	0.01261	T	9	0.0027101636	0.00042	T	.	.	.	0.029	0.06676	.	.	0.130388298395	0.12655	.	.	.	.	0.255858838558	0.04409	T	.	.	.	-0.782518	0.00011	T	-0.879224	0.00660	T	0.0041690862256481	0.00044	T	0.10379	0.00771	T	.	.	.	.	.	.	.	.	-1.993	0.03154	T	.	.	0.079	0.07365	B	.	.	-0.036227	0.04038	0.931	0.3195687945118687	0.01827	0.07664	0.13670	N	AEFBCI	0.086801	0.17599	N	-1.30252460112498	0.03646	0.1632608	-1.26484466596924	0.04914	0.2329751	0.999660970412778	0.41534	0.493124	0.18060	0	0.601575	0.49859	0	0.694767	0.63188	0	0.613276	0.41899	0	.	.	5.58	1.39	0.21325	0.204000	0.17133	0.214000	0.15995	-0.569000	0.04791	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5833:0.2337:0.0713:0.1117	4.219	0.10004	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.030303	0.05	2250.43	35	chr6	10586156	.	T	C	2250.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.875;DP=506;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.663;SOR=0.761	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1251	9	0	1	0
chr6	10672585	10672585	T	C	exonic	C6orf52	.	nonsynonymous SNV	C6orf52:NM_001354357:exon5:c.A101G:p.N34S	.	440	1069	13	0	0	13	0.0060437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00259585	0.0022	0	0	0	.	0.0053	0	0.0012	0.0009961	154	154602	rs146765215	0.0039	0.0035	0.0039	0.0040	0.0054	0.0038	0.0037	0.0052	0.0051	0.0009	0.0025	0.0037	0	0.0018	0.0040	0.0054	0.0038	0.0012	0.0032	0.0032	0.0033	0.0031	0.0052	0.0030	0.0029	0.0048	0.0046	0.0009	0	0.0044	0.0026	0	0.0009	0	0.0052	0.0028	0.0006	0.242	0.17584	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.38	0.15843	T	0.01	0.06868	N	0.175	0.18784	-0.9108	0.46756	T	0.005	0.01651	T	5	0.005464494	0.00120	T	.	.	.	0.012	0.01476	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	.	.	.	-0.746578	0.00019	T	-0.838645	0.01119	T	0.00180672650516581	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.	.	0.326616	0.07010	3.566	0.42035668309498431	0.03072	0.00372	0.01892	N	AEFBI	0.042383	0.06568	N	-0.886015964503683	0.11174	0.537857	-1.11179882492135	0.07474	0.3636771	9.68973826758359E-5	0.04910	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	0.235	0.235	0.14697	0.283000	0.18605	-0.283000	0.10254	0.339000	0.19733	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	.	.	.	845	0.36510	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1150.43	36	chr6	10672585	.	T	C	1150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.023;DP=395;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-1.147;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	9	0	1	0
chr6	11104447	11104447	G	C	exonic	ERVFRD-1	.	nonsynonymous SNV	ERVFRD-1:NM_207582:exon2:c.C864G:p.I288M	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00185079784635	0.0015	0.000199681	0.0017	0	0	0	0	0.0025	0	0.0016	0.0007568	117	154602	rs145616782	0.0026	0.0025	0.0027	0.0025	0.0030	0.0025	0.0025	0.0029	0.0029	0.0005	0.0007	0.0022	0	0.0006	0.0004	0.0030	0.0020	0.0015	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0003	0.0029	0	0.0005	0	0.0024	0.0024	0.0008	0.028	0.46129	D	0.058	0.46182	T	0.981	0.59675	D	0.746	0.55899	P	.	.	.	.	0.997168	0.43677	D	.	.	.	2.4	0.15608	T	-0.13	0.08971	N	0.141	0.14054	-1.0227	0.22834	T	0.019	0.07800	T	8	0.0111861825	0.00246	T	0.001851	0.03219	T	0.092	0.26621	.	.	0.231873229951	0.22792	0.12292479806086208	0.12218	0.924229016133	0.71572	0.493379116058	0.37907	T	0.038202	0.24756	T	-0.623858	0.00104	T	-0.668089	0.07731	T	0.0138819055127879	0.00264	T	0.442956	0.12306	T	0.2367482	0.46529	0.193315	0.42894	0.2367482	0.46529	0.193315	0.42893	-4.446	0.30176	T	.	.	0.188	0.41249	B	.;.	.;.	1.950237	0.24774	16.52	0.9940333966225241	0.62934	0.10299	0.15844	N	AEFBI	0.058102	0.10877	N	-0.241996626584207	0.31423	1.761883	-0.390096657053382	0.25290	1.389951	0.988911428946702	0.31667	0.556989	0.30585	1	0.487994	0.07600	2	0.547309	0.15389	0	0.567892	0.33627	0	.	.	0.225	0.225	0.14598	0.365000	0.20076	-0.096000	0.11999	0.373000	0.20310	0.946000	0.32893	0.627000	0.25846	0.953000	0.50222	.	.	.	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1380.43	34	chr6	11104447	.	G	C	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.32;DP=452;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.438;SOR=0.537	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr6	13711049	13711049	G	C	exonic	RANBP9	.	nonsynonymous SNV	RANBP9:NM_005493:exon1:c.C457G:p.R153G	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.963756580745	0.0007	0.00139776	0.0039	0	0.0018	0.0003	0.0092	0.0061	0.0068	0.0016	0.0018434	285	154602	rs144473823	0.0029	0.0028	0.0029	0.0028	0.0031	0.0028	0.0028	0.0030	0.0030	0.0002	0.0011	0.0020	0	0.0053	0.0021	0.0031	0.0032	0.0016	0.0027	0.0027	0.0027	0.0026	0.0043	0.0024	0.0024	0.0038	0.0037	0.0003	0	0.0007	0.0017	0	0.0066	0.0103	0.0043	0.0033	0.0012	0.257	0.16738	T	0.483	0.11795	T	0.407	0.34981	B	0.061	0.26820	B	0.020357	0.27058	N	0.364442	0.996759	0.43396	D	0.755	0.19153	N	-1.27	0.79277	T	-2.38	0.52451	N	0.203	0.22486	-1.0753	0.08287	T	0.070	0.28642	T	10	0.0069773197	0.00159	T	0.963757	0.99768	D	0.301	0.62179	.	.	0.580656232309	0.57736	0.48089888664766833	0.48009	2.11051116609	0.94935	0.929391264915	0.98953	D	0.622183	0.88173	D	-0.312568	0.07524	T	-0.217754	0.52952	T	0.0432522325860782	0.04284	T	0.924008	0.72230	D	0.49778056	0.66965	0.17042208	0.39149	0.49778056	0.66965	0.17042208	0.39149	-6.356	0.49165	T	.	.	0.252	0.48715	B	.	.	4.124911	0.61682	24.4	0.92263829945058828	0.21646	0.68340	0.33765	D	ALL	0.503075	0.53521	D	-0.521342188093928	0.21391	1.134851	-0.442565501826453	0.23760	1.297443	0.999999999240301	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	3.54	1.7	0.23359	3.012000	0.49262	9.115000	0.78820	0.486000	0.22242	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.214:0.0:0.6034:0.1826	4.082	0.09405	785	0.46916	B30.2/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008138	0.000000	0.004098	0.017647	0.050000	0.008621	0.012422	0.015152	0.05	1778.43	40	chr6	13711049	.	G	C	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.075;DP=428;ExcessHet=0;FS=2.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=-0.523;SOR=0.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1194:.	9	0	1	0
chr6	16327663	16327663	-	TGATGCTGA	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.647_648insTCAGCATCA:p.Q215_Q216insHQH,ATXN1:NM_000332:exon8:c.647_648insTCAGCATCA:p.Q215_Q216insHQH	Spinocerebellar ataxia 1, Autosomal dominant	5	1457	32	0	28	60	0.0108622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.609e-05	0	0	0.0015	0	0	0	0.0002	6.5e-06	1	154602	rs766029394	0.0003	0.0004	0.0002	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0004	0.0004	0	0.0035	0	0.0029	3.916e-05	0.0004	0.0021	0.0008	0.0009	0.0006	0.0009	0.0099	0.0007	0.0006	0.0073	0.0064	0.0007	0	0.0010	0	0.0099	0	0.0214	0.0002	0.0016	0.0032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	965.39	40	chr6	16327663	.	C	CTGATGCTGA	965.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.508;DP=766;ExcessHet=0;FS=5.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=4.23;SOR=0.283	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	9	0	1	0
chr6	16327669	16327669	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G642T:p.Q214H,ATXN1:NM_000332:exon8:c.G642T:p.Q214H	Spinocerebellar ataxia 1, Autosomal dominant	5	1466	29	0	22	51	0.00979399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	.	0.0002	0	0.0003	0.0020	0	5.926e-05	0	0.0003	6.5e-06	1	154602	rs200111316	0.0022	0.0024	0.0019	0.0025	0.0455	0.0021	0.0021	0.0436	0.0428	0.0013	0.0018	0.0007	0.0455	0.0014	0.0040	0.0005	0.0028	0.0077	0.0050	0.0057	0.0045	0.0055	0.0623	0.0047	0.0045	0.0555	0.0528	0.0041	0	0.0055	0.0012	0.0623	0.0012	0.0217	0.0020	0.0089	0.0154	0.581	0.05973	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	0.71	0.51228	T	-0.24	0.10833	N	0.223	0.25006	-1.0332	0.19427	T	0.013	0.05177	T	5	0.003165722	0.00053	T	.	.	.	0.019	0.03383	0.243	0.17677	0.571625278582	0.56828	0.36497057281416573	0.36411	0.386732587604	0.39963	0.513806939125	0.40755	T	0.333686	0.70351	T	-0.170647	0.25137	T	-0.482899	0.24138	T	0.0146633580417803	0.00304	T	0.239776	0.03423	T	0.13407189	0.31163	0.1573729	0.36800	0.14230141	0.32754	0.17445123	0.39841	-6.779	0.52403	T	.	.	0.171	0.37690	B	.;.	.;.	1.005127	0.13839	10.39	0.70744731390196258	0.09396	0.00133	0.00820	N	AEFBI	0.024126	0.01446	N	-1.67939122662585	0.00917	0.03972131	-1.85113512368033	0.00609	0.02705755	0.695613069416805	0.22637	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	.	.	.	0.000000	0.12910	-0.548000	0.08544	0.000000	0.17513	0.828000	0.30104	0.000000	0.08366	0.189000	0.21571	.	.	.	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014359	0.010870	0.008287	0.023529	0.050000	0.000000	0.009615	0.023077	0.05	968.43	40	chr6	16327669	.	C	A	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.251;DP=805;ExcessHet=0;FS=2.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=4.78;SOR=0.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:93,0:93:99:.:.:0,120,1800:.	9	0	1	0
chr6	16327684	16327684	A	0	exonic	ATXN1	.	.	.	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6945.76	40	chr6	16327684	.	A	*	6945.76	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=829;ExcessHet=2.4664;FS=2.43;InbreedingCoeff=-0.2;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=0;QD=21.5;ReadPosRankSum=1.54;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:32,0:51:99:.:.:1017,1050,2946:.	9	0	1	0
chr6	17625913	17625913	T	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon18:c.A3670G:p.T1224A,NUP153:NM_005124:exon19:c.A3796G:p.T1266A,NUP153:NM_001278209:exon20:c.A3889G:p.T1297A	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00373881257193	0.0026	0.000998403	0.0023	0.0007	0.0016	0	0	0.0034	0.0044	0.0013	0.0022445	347	154602	rs142764283	0.0030	0.0030	0.0030	0.0030	0.0227	0.0029	0.0029	0.0195	0.0184	0.0006	0.0023	0.0158	0	0.0001	0.0227	0.0030	0.0042	0.0016	0.0022	0.0022	0.0023	0.0021	0.0031	0.0020	0.0020	0.0024	0.0023	0.0004	0	0.0031	0.0190	0	0	0.0340	0.0027	0.0043	0.0012	0.216	0.25355	T	0.446	0.20228	T	0.001	0.07471	B	0.001	0.04355	B	0.035569	0.24628	N	0.289012	0.838668	0.28661	N	1.525	0.38595	L	3.27	0.06681	T	-0.2	0.10308	N	0.149	0.15187	-0.9048	0.47470	T	0.005	0.01615	T	10	0.0033147037	0.00057	T	0.003739	0.08682	T	0.075	0.21907	.	.	0.48015471723	0.47646	0.18304016958423017	0.18223	0.0320171395657	0.03327	0.294107824564	0.09525	T	0.005033	0.04462	T	-0.659135	0.00064	T	-0.723881	0.04611	T	0.00355768307236987	0.00038	T	0.685431	0.29402	T	0.024468264	0.01281	0.03271688	0.02051	0.024468264	0.01281	0.03271688	0.02051	-4.009	0.23968	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	1.580431	0.20222	14.65	0.90763160139365195	0.20013	0.77682	0.38223	D	AEFBI	0.080933	0.16370	N	-0.519044119768564	0.21465	1.139312	-0.38890080595934	0.25326	1.392126	0.268726895132015	0.18869	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	0.769	0.17638	0.281000	0.18568	0.059000	0.14106	0.665000	0.62972	0.997000	0.40164	0.966000	0.29516	0.995000	0.73285	0.1273:0.2078:0.0:0.6649	4.765	0.12500	478	0.77585	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017120	0.005051	0.017663	0.032164	0.000000	0.034483	0.009146	0.003788	0.05	946.43	34	chr6	17625913	.	T	C	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.203;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.061;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	9	0	1	0
chr6	18122126	18122126	C	T	exonic	NHLRC1	.	nonsynonymous SNV	NHLRC1:NM_198586:exon1:c.G481A:p.A161T	Epilepsy, progressive myoclonic 2B (Lafora), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	924306	Lafora_disease|Inborn_genetic_diseases	MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0353788487973	.	0.000199681	4.17e-05	0	0	0.0001	0	0	0	0.0002	3.88e-05	6	154602	rs201476733	1.984e-05	1.984e-05	1.089e-05	2.888e-05	0.0005	1.392e-05	1.204e-05	0.0003	0.0002	0	0	0	0.0005	0	0	0	0	0.0001	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	0	0	0	0.597	0.05686	T	0.287	0.21210	T	0.557	0.38282	P	0.041	0.23986	B	0.083889	0.20728	N	0.496380	1	0.08975	N	0.895	0.22405	L	-2.61	0.89953	D	-0.53	0.16393	N	0.289	0.32701	-0.8943	0.48549	T	0.219	0.58227	T	10	0.072166085	0.10736	T	0.035379	0.56304	D	0.146	0.38789	.	.	0.798431674279	0.79655	0.4395632538453617	0.43873	0.408364827475	0.41678	0.399507701397	0.24999	T	0.085976	0.37621	T	-0.216896	0.18419	T	-0.289654	0.45808	T	0.0964726135134697	0.11964	T	0.729627	0.34527	T	0.04665513	0.07844	0.08100551	0.18374	0.04665513	0.07844	0.08100551	0.18374	-4.274	0.27811	T	0.11807226440136598	0.10854	0.078	0.06849	B	.	.	3.189069	0.43316	21.7	0.9870693874590305	0.44996	0.10293	0.15840	N	AEFBCI	0.063238	0.12210	N	-0.483459696760407	0.22622	1.20927	-0.474163742072108	0.22869	1.244267	0.999315903056594	0.39113	0.764865	0.99124	0	0.588066	0.40923	0	0.731555	0.93304	0	0.444512	0.06955	0	.	.	5.23	3.43	0.38372	1.495000	0.35236	3.283000	0.37246	0.599000	0.40250	0.059000	0.21734	0.447000	0.24933	0.935000	0.47363	0.0:0.5422:0.149:0.3088	4.950	0.13357	739	0.53257	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5542.43	35	chr6	18122126	.	C	T	5542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=756;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-2.246;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr6	18161343	18161343	C	T	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon4:c.C104T:p.T35I,KDM1B:NM_153042:exon4:c.C104T:p.T35I	.	420	1100	2	0	0	2	0.000908265	.	.	.	710352	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0095	0.00898562	0.0031	0.0316	0.0015	0	0	0.0003	0.0022	6.061e-05	0.002956	457	154602	rs115866051	0.0012	0.0012	0.0013	0.0011	0.0334	0.0012	0.0012	0.0318	0.0311	0.0334	0.0024	7.653e-05	0	0	0.0066	0.0003	0.0028	0.0002	0.0090	0.0090	0.0094	0.0086	0.0308	0.0086	0.0084	0.0294	0.0288	0.0308	0	0.0043	0	0	0	0.0068	0.0002	0.0057	0.0004	0.023	0.48186	D	0.044	0.49663	D	.	.	.	.	.	.	0.957906	0.07698	N	1.019820	1	0.28053	N	0.895	0.22405	L	1.53	0.30401	T	-0.41	0.14000	N	0.071	0.04426	-0.9983	0.30395	T	0.025	0.10643	T	10	0.0032545626	0.00056	T	.	.	.	0.074	0.21613	.	.	0.043077524339	0.03247	0.4465829560368263	0.44576	0.700554390596	0.61102	0.392657339573	0.24043	T	.	.	.	-0.684056	0.00045	T	-0.731691	0.04251	T	0.0147689463957161	0.00309	T	0.871313	0.57716	D	.	.	.	.	.	.	.	.	-3.748	0.20029	T	.	.	0.075	0.17573	B	.;.	.;.	1.414225	0.18301	13.66	0.98801408022874204	0.46461	0.19491	0.20681	N	AEFDGBI	0.074815	0.15006	N	-0.734725947031744	0.15052	0.7551514	-0.680058957718645	0.17459	0.9284922	0.999996258404146	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.78	3.04	0.34171	2.865000	0.48111	1.440000	0.26519	-0.225000	0.07834	0.046000	0.21249	0.001000	0.17328	0.284000	0.24115	0.1403:0.6408:0.0:0.219	5.422	0.15704	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.010101	0.013587	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1490.43	41	chr6	18161343	.	C	T	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.789;DP=455;ExcessHet=0;FS=3.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.051;SOR=0.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:43,0:43:99:.:.:0,102,1530:.	9	0	1	0
chr6	18171430	18171430	A	C	exonic	KDM1B	.	nonsynonymous SNV	KDM1B:NM_001364614:exon7:c.A485C:p.Q162P,KDM1B:NM_153042:exon7:c.A485C:p.Q162P	.	430	1056	32	4	0	40	0.0185874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00648607289885	0.0034	0.00319489	0.0032	0.0005	0.0017	0	0.0002	0.0036	0.0055	0.0069	0.0030465	471	154602	rs149734475	0.0028	0.0028	0.0027	0.0030	0.0085	0.0028	0.0027	0.0069	0.0067	0.0004	0.0016	3.826e-05	0	0.0004	0.0085	0.0028	0.0030	0.0074	0.0021	0.0021	0.0023	0.0019	0.0050	0.0019	0.0019	0.0035	0.0033	0.0003	0	0.0010	0	0.0002	0.0002	0.0136	0.0038	0.0028	0.0050	0.042	0.41637	D	0.087	0.40747	T	.	.	.	.	.	.	0.335157	0.04154	N	1.560660	1	0.81001	D	1.7	0.43825	L	1.48	0.31731	T	-0.76	0.21215	N	0.54	0.56748	-1.0950	0.04752	T	0.041	0.17657	T	10	0.008307725	0.00188	T	0.006486	0.17072	T	0.137	0.36984	.	.	0.312529679308	0.30857	0.751307291187119	0.75077	1.13811683318	0.78839	0.326103448868	0.14345	T	.	.	.	-0.453143	0.01082	T	-0.41968	0.31112	T	0.020574591945722	0.00757	T	0.913209	0.69822	D	.	.	.	.	.	.	.	.	-5.21	0.39043	T	.	.	0.116	0.30686	B	.;.	.;.	3.203952	0.43583	21.8	0.99065892226933139	0.51598	0.78064	0.38461	D	AEFGBI	0.314278	0.41918	N	-0.161843836512971	0.34733	1.986093	-0.0136219713147727	0.39097	2.31317	0.999994216246781	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.42	4.24	0.49486	3.879000	0.55850	7.874000	0.72122	0.691000	0.84096	0.945000	0.32849	1.000000	0.68203	0.993000	0.69303	0.8603:0.1397:0.0:0.0	12.498	0.55282	749	0.51929	Zinc finger, CW-type|Zinc finger, CW-type;.	.	.	.	.	rs149734475	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.006793	0.005848	0.050000	0.000000	0.015244	0.015152	0.05	1037.43	33	chr6	18171430	.	A	C	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.337;DP=398;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.231;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	9	0	1	0
chr6	19838155	19838155	C	T	exonic	ID4	.	nonsynonymous SNV	ID4:NM_001546:exon1:c.C401T:p.A134V	.	422	1097	2	1	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.799026717674	.	.	0.0010	0	0.0018	0	0	9.053e-05	0	0.0029	0.0002264	35	154602	rs755277892	0.0001	0.0001	7.79e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	3.049e-05	4.283e-05	0	0	0.0017	1.032e-05	0.0001	0.0020	4.604e-05	4.594e-05	1.287e-05	8.072e-05	0.0014	2.111e-05	1.528e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	0.156	0.24090	T	0.239	0.24477	T	0.416	0.35222	B	0.078	0.28627	B	0.114996	0.19252	N	0.486248	0.685816	0.30237	N	1.245	0.31408	L	-1.15	0.77964	T	-1.19	0.30346	N	0.073	0.04668	-1.0585	0.12134	T	0.087	0.33634	T	9	0.025958866	0.00775	T	0.799027	0.98426	D	0.231	0.53208	0.065	0.00293	0.774559073603	0.77248	0.4953486265445007	0.49455	0.615504475443	0.56028	0.905481100082	0.97025	D	0.234726	0.60181	T	-0.416534	0.01800	T	-0.377575	0.36006	T	0.0279389254958791	0.01680	T	0.684632	0.29288	T	0.08812124	0.20546	0.11761489	0.28392	0.08812124	0.20546	0.11761489	0.28391	-5.395	0.40871	T	.	.	0.084	0.09723	B	.	.	2.449039	0.31530	18.77	0.98917925076401569	0.48509	0.13120	0.17674	N	AEFDBCIJ	0.205395	0.33175	N	-0.658182930012867	0.17222	0.8843883	-0.640591711649924	0.18455	0.985923	0.999964466147213	0.48965	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	2.58	1.54	0.22290	0.104000	0.15148	1.573000	0.27428	0.443000	0.21123	0.067000	0.21986	1.000000	0.68203	0.879000	0.42020	0.0:0.7924:0.2076:0.0	9.939	0.40739	865	0.32612	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2345.14	71	chr6	19838155	.	C	T	2345.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.92;DP=429;ExcessHet=0.2348;FS=0.713;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.17;ReadPosRankSum=0.602;SOR=0.573	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	8	0	2	0
chr6	20112977	20112977	T	C	exonic	MBOAT1	.	nonsynonymous SNV	MBOAT1:NM_001080480:exon11:c.A1108G:p.T370A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.0496428575759	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs755597178	4.105e-06	4.104e-06	1.361e-06	6.876e-06	4.638e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.07	0.43721	T	0.977	0.58535	D	0.814	0.58796	P	0.000003	0.62929	D	0.101382	0.99995	0.52396	D	2.755	0.80505	M	-0.93	0.75215	T	-4.1	0.74900	D	0.732	0.73285	0.244	0.86638	D	0.552	0.83616	D	10	0.859135	0.85124	D	0.049643	0.63902	D	0.627	0.85615	0.731	0.86460	0.866087505847	0.86479	0.7963905457662015	0.79592	0.254691614069	0.28041	0.43102991581	0.29349	T	0.142884	0.47870	T	-0.0581117	0.43202	T	-0.11765	0.61995	T	0.818032157404283	0.47627	D	0.830517	0.49623	T	0.40162	0.60845	0.3138287	0.57378	0.40162	0.60845	0.3138287	0.57377	-10.33	0.75864	D	.	.	0.133	0.28693	B	.	.	4.479135	0.69862	25.4	0.99826053201138365	0.90852	0.90674	0.52048	D	AEFDBI	0.322911	0.42526	N	0.7469221341787	0.82703	7.828743	0.710531975320032	0.83177	7.954119	0.978748610433258	0.29954	0.719381	0.83141	0	0.723133	0.82719	0	0.688494	0.62686	0	0.620846	0.47308	0	.	.	5.83	5.83	0.93059	4.199000	0.58223	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.874	0.78929	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1363.43	34	chr6	20112977	.	T	C	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.314;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.171;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1169	9	0	1	0
chr6	20402602	20402602	-	GCG	exonic	E2F3	.	nonframeshift insertion	E2F3:NM_001949:exon1:c.370_371insGCG:p.G129_P130insG	.	324	1191	6	1	0	8	0.00334728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0	0	0	0	0	0	0.0023	0.0002329	36	154602	rs781324605	0.0007	0.0008	0.0004	0.0010	0.0128	0.0007	0.0007	0.0120	0.0117	4.278e-05	0	0	0.0001	0	0.0016	0.0002	0.0010	0.0128	0.0004	0.0004	0.0003	0.0005	0.0074	0.0003	0.0003	0.0054	0.0047	0.0001	0	6.732e-05	0	0	0	0.0034	0.0003	0	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	57.44	25	chr6	20402602	.	A	AGCG	57.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=213;ExcessHet=0;FS=3.68;InbreedingCoeff=-0.0567;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=1.47;SOR=2.258	GT:AD:DP:GQ:PL	0/0:14,0:14:36:0,36,540	9	0	1	0
chr6	21594616	21594616	C	G	exonic	SOX4	.	nonsynonymous SNV	SOX4:NM_003107:exon1:c.C82G:p.L28V	.	401	1088	32	1	0	34	0.0153846	.	.	.	721903	SOX4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.393	.	0.0064	0.00658946	0.0099	0.0017	0.0069	0.0004	0.0236	0.0138	0.0104	0.0029	0.0069857	1080	154602	rs140231408	0.0088	0.0088	0.0087	0.0090	0.0231	0.0087	0.0087	0.0198	0.0185	0.0013	0.0061	0.0046	2.535e-05	0.0170	0.0231	0.0096	0.0085	0.0029	0.0084	0.0084	0.0083	0.0085	0.0123	0.0080	0.0078	0.0116	0.0113	0.0015	0.0461	0.0105	0.0037	0.0002	0.0112	0.0068	0.0123	0.0114	0.0035	0.02	0.49613	D	0.041	0.50514	D	0.999	0.77913	D	0.991	0.79672	D	0.008648	0.30737	U	0.228531	0.998091	0.44502	D	2.085	0.57729	M	-4.61	0.97866	D	-1.94	0.45042	N	0.28	0.31702	1.021	0.97545	D	0.930	0.97703	D	10	0.0058346987	0.00130	T	.	.	.	0.393	0.70844	.	.	0.976265630234	0.97601	0.8798186674249182	0.87949	1.76582254262	0.91186	0.850305140018	0.89661	D	0.508715	0.82587	D	-0.20665	0.19853	T	-0.0559893	0.66610	D	0.0263906622172914	0.01459	T	0.767723	0.39623	T	0.40660983	0.61188	0.48305514	0.70070	0.40660983	0.61188	0.48305514	0.70070	-5.077	0.37664	T	.	.	0.239	0.47294	B	.	.	4.612667	0.73162	25.9	0.98579792533148403	0.43219	0.13430	0.17851	N	ALL	0.198450	0.32531	N	0.508664371648211	0.67602	5.103375	0.493918065059826	0.67587	5.103923	0.999999999735307	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.12	5.12	0.69459	0.264000	0.18264	5.555000	0.48903	0.580000	0.29708	0.987000	0.36337	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.331	0.87150	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014184	0.010309	0.014946	0.011696	0.050000	0.008621	0.015432	0.011364	0.05	708.43	35	chr6	21594616	.	C	G	708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.645;DP=439;ExcessHet=0;FS=3.116;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.04;SOR=1.1	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1265	9	0	1	0
chr6	21595021	21595032	GGGGGCGGCCAT	-	exonic	SOX4	.	nonframeshift deletion	SOX4:NM_003107:exon1:c.487_498del:p.H166_G169del	.	267	1249	4	2	0	8	0.00319234	.	.	.	2822740	not_provided|SOX4-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0039	0.0019	0	0.0008	0	0.0059	0	0.0005	3.88e-05	6	154602	rs747523746	0.0058	0.0055	0.0059	0.0057	0.0069	0.0057	0.0056	0.0068	0.0067	0.0012	0.0015	0.0008	0.0014	0.0005	0.0030	0.0069	0.0039	0.0014	0.0034	0.0034	0.0037	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0012	0	0.0024	0.0006	0.0006	0.0005	0	0.0059	0.0033	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1249.39	35	chr6	21595020	.	CGGGGGCGGCCAT	C	1249.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.503;DP=406;ExcessHet=0;FS=1.311;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.14;ReadPosRankSum=-1.642;SOR=1	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1265	9	0	1	0
chr6	21595197	21595197	-	GGC	exonic	SOX4	.	nonframeshift insertion	SOX4:NM_003107:exon1:c.663_664insGGC:p.G227_K228insG	.	415	1105	1	0	1	2	0.000452284	.	.	.	2822745	not_provided|Coffin-Siris_syndrome_10|SOX4-related_disorder	MedGen:C3661900|MONDO:MONDO:0032791,MedGen:C4760583,OMIM:618506|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs1038763406	0.0018	0.0013	0.0018	0.0018	0.0036	0.0017	0.0017	0.0025	0.0021	0.0004	0.0036	8.453e-05	0.0002	9.965e-05	0.0011	0.0019	0.0014	0.0006	0.0012	0.0012	0.0014	0.0010	0.0020	0.0010	0.0010	0.0015	0.0014	0.0005	0	0.0020	0	0	0	0	0.0018	0.0029	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	109.04	18	chr6	21595197	.	A	AGGC	109.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.674;DP=139;ExcessHet=0;FS=0;InbreedingCoeff=-0.0824;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=27.26;ReadPosRankSum=0.319;SOR=0.446	GT:AD:DP:GQ:PL	0/0:11,0:11:27:0,27,405	8	0	1	1
chr6	22570117	22570117	-	GGCGGC	exonic	HDGFL1	.	nonframeshift insertion	HDGFL1:NM_138574:exon1:c.542_543insGGCGGC:p.A188_T189insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0034	0	0	0	0.0007	0	0.0006	0.000207	32	154602	rs536582109	0.0005	0.0005	0.0005	0.0005	0.0010	0.0005	0.0005	0.0007	0.0006	0.0010	0.0004	4.272e-05	0.0002	0.0010	0.0005	0.0005	0.0005	0.0003	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0008	0.0015	0.0014	0.0018	0	0.0005	0	0	0.0009	0.0035	0.0006	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	636.09	30	chr6	22570117	.	G	GGGCGGC	636.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.87;DP=268;ExcessHet=0.2348;FS=2.539;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.142;SOR=0.75	GT:AD:DP:GQ:PL	0/0:16,0:16:42:0,42,630	9	0	1	0
chr6	24134501	24134501	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon3:c.C174G:p.S58R	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0208990237238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488401997	2.053e-06	2.052e-06	1.362e-06	2.751e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	0	6.574e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.033	0.72154	D	0.017	0.64786	D	0.959	0.55135	D	0.647	0.52336	P	0.000000	0.84330	D	0.036970	0.999997	0.58761	D	2.34	0.67151	M	2.13	0.19588	T	-2.14	0.75058	N	0.801	0.80180	-1.0990	0.04214	T	0.053	0.22501	T	10	0.41373974	0.56400	T	0.020899	0.43581	T	0.284	0.60219	0.431	0.48007	0.679700534886	0.67698	0.7168030279089568	0.71623	0.727662557189	0.62576	0.625942230225	0.56569	T	0.117547	0.43771	T	0.188743	0.72848	D	0.0333402	0.72495	D	0.965076506137848	0.67154	D	0.914909	0.69682	D	0.43778837	0.63259	0.43165228	0.66776	0.43778837	0.63260	0.43165228	0.66776	-5.201	0.38952	T	.	.	0.449	0.79045	A	.;.;.;.	.;.;.;.	4.456535	0.69317	25.4	0.99807105583257405	0.89174	0.96912	0.71619	D	AEFI	0.754613	0.69443	D	0.495614693097551	0.66832	5.001636	0.489746699868558	0.67309	5.066784	0.329337700334227	0.19469	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	3.93	0.44666	3.838000	0.55532	3.210000	0.36796	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8651:0.0:0.1349	12.918	0.57612	858	0.34001	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	39	chr6	24134501	.	C	G	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=472;ExcessHet=0;FS=6.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.418;SOR=1.291	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	9	0	1	0
chr6	24145554	24145554	C	G	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196G:p.L66V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0244498327376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.014	0.62352	D	0.997	0.70673	D	0.946	0.68276	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	1.995	0.54099	M	2.04	0.38397	T	-1.04	0.27259	N	0.598	0.61680	-1.0261	0.21723	T	0.105	0.38341	T	10	0.38316447	0.54345	T	0.02445	0.47438	T	0.159	0.41286	0.222	0.14518	0.592685350901	0.58946	0.5903367191441313	0.58963	1.01389843922	0.74865	0.620901226997	0.55857	T	0.070066	0.33867	T	0.0642638	0.60145	T	-0.145466	0.59643	T	0.947459578514099	0.62685	D	0.808619	0.45852	T	0.4937834	0.66727	0.37499517	0.62653	0.4937834	0.66728	0.37499517	0.62652	-4.546	0.31486	T	.	.	0.126	0.27222	B	.;.;.	.;.;.	4.497323	0.70306	25.5	0.99826269118642064	0.90852	0.95160	0.63658	D	AEFBCI	0.809917	0.73329	D	0.709881601940465	0.80282	7.259509	0.688265315290989	0.81488	7.538295	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	1640.75	71	chr6	24145554	.	C	G	1640.75	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,9:59:10:.:.:104,0,1228:.	7	0	3	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1640.75	71	chr6	24145554	.	C	T	1640.75	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,14:59:10:.:.:104,10,543:.	5	0	5	0
chr6	24596121	24596121	-	GTCC	exonic	KIAA0319	.	frameshift insertion	KIAA0319:NM_001168376:exon2:c.417_418insGGAC:p.W140Gfs*31,KIAA0319:NM_001350404:exon2:c.534_535insGGAC:p.W179Gfs*31,KIAA0319:NM_001350406:exon2:c.417_418insGGAC:p.W140Gfs*31,KIAA0319:NM_001168375:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001168377:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350403:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350405:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350407:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001350408:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_014809:exon3:c.552_553insGGAC:p.W185Gfs*31,KIAA0319:NM_001168374:exon4:c.525_526insGGAC:p.W176Gfs*31,KIAA0319:NM_001350409:exon4:c.96_97insGGAC:p.W33Gfs*31,KIAA0319:NM_001350410:exon4:c.96_97insGGAC:p.W33Gfs*31	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1659.39	33	chr6	24596121	.	A	AGTCC	1659.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=472;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=-1.12;SOR=0.848	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1526	9	0	1	0
chr6	24842869	24842869	A	C	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.T1850G:p.I617S,RIPOR2:NM_001286446:exon13:c.T1865G:p.I622S,RIPOR2:NM_001286447:exon13:c.T1763G:p.I588S,RIPOR2:NM_001346031:exon13:c.T1763G:p.I588S,RIPOR2:NM_001346032:exon13:c.T1763G:p.I588S,RIPOR2:NM_015864:exon13:c.T1763G:p.I588S,RIPOR2:NM_014722:exon14:c.T1913G:p.I638S	.	.	.	.	.	.	.	.	.	.	.	654431	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	.	0.0046	0.00459265	0.0014	0.0148	0.0010	0	0	4.848e-05	0	0.0001	0.001216	188	154602	rs115013548	0.0004	0.0004	0.0004	0.0004	0.0126	0.0004	0.0004	0.0115	0.0111	0.0126	0.0012	0	0	0	0.0012	9.779e-05	0.0008	1.884e-05	0.0038	0.0038	0.0039	0.0037	0.0131	0.0035	0.0034	0.0122	0.0118	0.0131	0	0.0012	0	0	0	0.0068	7.351e-05	0.0009	0	0.017	0.78490	D	0.084	0.48080	T	0.953	0.54283	P	0.636	0.51948	P	0.010870	0.29752	N	0.406049	0.984085	0.40098	D	.	.	.	1.27	0.36146	T	-2.4	0.52776	N	0.568	0.59138	-1.0672	0.10039	T	0.053	0.22346	T	10	0.007960498	0.00181	T	.	.	.	0.199	0.48268	.	.	0.20808081866	0.20439	0.31100943527934666	0.31013	0.495279647941	0.48067	0.328204780817	0.14663	T	0.014853	0.27163	T	-0.34467	0.05071	T	-0.255547	0.49268	T	0.0544016967552571	0.06257	T	0.878612	0.77758	D	0.29266036	0.52239	0.27040035	0.52930	0.27618742	0.50680	0.3191964	0.57881	-7.158	0.55179	T	.	.	0.315	0.67462	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.592646	0.72660	25.9	0.99027723341638474	0.50721	0.99555	0.97394	D	AEBI	0.919354	0.88975	D	0.428827649547544	0.63014	4.527143	0.515745925949157	0.69049	5.305137	0.999999765516456	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.12	5.12	0.69459	8.506000	0.90349	11.097000	0.86042	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.083	0.71800	755	0.51144	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	686.43	33	chr6	24842869	.	A	C	686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.2;DP=392;ExcessHet=0;FS=3.178;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.22;SOR=0.368	GT:AD:DP:GQ:PL	0/1:43,32:75:99:698,0,989	9	0	1	0
chr6	24842956	24842956	T	G	exonic	RIPOR2	.	nonsynonymous SNV	RIPOR2:NM_001286445:exon13:c.A1763C:p.N588T,RIPOR2:NM_001286446:exon13:c.A1778C:p.N593T,RIPOR2:NM_001286447:exon13:c.A1676C:p.N559T,RIPOR2:NM_001346031:exon13:c.A1676C:p.N559T,RIPOR2:NM_001346032:exon13:c.A1676C:p.N559T,RIPOR2:NM_015864:exon13:c.A1676C:p.N559T,RIPOR2:NM_014722:exon14:c.A1826C:p.N609T	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00970253039019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.45e-06	1.368e-06	1.425e-06	1.477e-06	9.321e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.321e-07	1.764e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.50132	T	0.547	0.26226	T	0.089	0.32716	B	0.075	0.32014	B	0.472183	0.12264	N	0.804657	1	0.08975	N	.	.	.	1.5	0.31205	T	-1.35	0.33598	N	0.166	0.23758	-1.0002	0.29860	T	0.015	0.05849	T	10	0.053133816	0.05457	T	0.009703	0.25336	T	0.030	0.07022	0.299	0.26522	0.117191471859	0.11215	0.06789157172204004	0.06727	0.307147514716	0.33015	0.234472736716	0.02315	T	0.004725	0.12895	T	-0.269073	0.11861	T	-0.624281	0.10853	T	0.122550487018229	0.14677	T	0.916408	0.71859	D	0.044082332	0.06984	0.050278056	0.07858	0.044082332	0.06984	0.050278056	0.07857	-5.695	0.43649	T	.	.	0.071	0.23077	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.297159	0.16988	12.89	0.88421987137573022	0.17964	0.39539	0.26235	N	AEFBI	0.209983	0.33592	N	-0.869597642148016	0.11571	0.5591058	-0.850791545410368	0.13268	0.6873749	0.193595894749743	0.18030	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.65	-2.44	0.06126	0.642000	0.24426	0.004000	0.13336	0.665000	0.62972	0.224000	0.24579	0.000000	0.08366	0.991000	0.66497	0.0:0.4452:0.0:0.5548	11.180	0.47852	750	0.51762	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1800.43	33	chr6	24842956	.	T	G	1800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=464;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-2.051;SOR=0.801	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr6	25580959	25580959	C	G	exonic	CARMIL1	.	nonsynonymous SNV	CARMIL1:NM_001173977:exon30:c.C2778G:p.S926R,CARMIL1:NM_017640:exon30:c.C2778G:p.S926R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0214777814306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	1.368e-06	1.37e-06	1.39e-06	9.046e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.046e-07	1.667e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.598	0.07999	T	0.999	0.77913	D	0.959	0.70163	D	0.000000	0.84330	D	0.081104	0.999808	0.49283	D	.	.	.	0.55	0.54728	T	-1.75	0.41428	N	0.575	0.59732	-0.8083	0.54653	T	0.191	0.54257	T	10	0.44539222	0.58363	T	0.021478	0.44254	T	0.176	0.44373	0.286	0.24440	0.228066490088	0.22430	0.7141406738161654	0.71357	0.918591870211	0.71354	0.808049142361	0.83194	D	0.037779	0.24600	T	0.0931848	0.63544	D	-0.103923	0.63091	T	0.893489062786102	0.54472	D	0.965403	0.87236	D	0.3057898	0.53419	0.3007387	0.56107	0.3057898	0.53419	0.3007387	0.56106	-5.337	0.40308	T	.	.	0.976	0.90308	P	.	.	3.656580	0.51924	23.2	0.99833426540829173	0.91456	0.93971	0.59726	D	AEFDBI	0.361236	0.45092	N	0.532743395608792	0.69038	5.300607	0.534542034820933	0.70328	5.48928	0.948713136493689	0.27813	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.78	4.8	0.61157	0.881000	0.27811	1.069000	0.23788	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.8562:0.0:0.1438	10.39	0.43346	606	0.67383	CARMIL, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1111.43	94	chr6	25580959	.	C	G	1111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.357;DP=404;ExcessHet=0;FS=5.125;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.322;SOR=1.13	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr6	25770982	25770982	A	G	exonic	SLC17A4	.	nonsynonymous SNV	SLC17A4:NM_005495:exon6:c.A676G:p.I226V,SLC17A4:NM_001286121:exon7:c.A514G:p.I172V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00325108154751	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377303426	6.842e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.025	0.47320	D	0.03	0.54159	D	0.001	0.07471	B	0.008	0.13708	B	0.526459	0.05232	N	1.283730	1	0.08975	N	0.685	0.16464	N	0.39	0.57419	T	-0.7	0.19933	N	0.173	0.18512	-1.0741	0.08535	T	0.022	0.09238	T	10	0.10363278	0.19062	T	0.003251	0.07177	T	0.131	0.35738	0.703	0.83962	0.211220785272	0.20719	0.20255652093873397	0.20172	0.064403949288	0.07180	0.257238537073	0.04567	T	0.065067	0.32594	T	-0.294487	0.09190	T	-0.660787	0.08214	T	0.0691507777275334	0.08532	T	0.215678	0.04576	T	0.10299597	0.24342	0.08127449	0.18457	0.10299597	0.24342	0.08127449	0.18457	-3.885	0.22077	T	.	.	0.073	0.04517	B	.;.	.;.	0.797823	0.11683	8.266	0.94008719930506524	0.24108	0.02786	0.07497	N	AEFBI	0.115808	0.22755	N	-1.33021435656782	0.03335	0.1487774	-1.40067729938232	0.03246	0.1510136	0.999504365187641	0.40062	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	-11.4	0.00070	-0.515000	0.06375	-2.264000	0.03979	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.970000	0.54328	0.1484:0.4544:0.2118:0.1854	3.228	0.06338	593	0.68665	.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1269.43	33	chr6	25770982	.	A	G	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.36;DP=435;ExcessHet=0;FS=2.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.24;SOR=0.484	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	9	0	1	0
chr6	25923748	25923748	C	T	exonic	SLC17A2	.	nonsynonymous SNV	SLC17A2:NM_001286125:exon2:c.G187A:p.V63I,SLC17A2:NM_001286123:exon3:c.G187A:p.V63I,SLC17A2:NM_005835:exon3:c.G187A:p.V63I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00427022667442	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229423457	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09629	T	0.403	0.14865	T	0.032	0.20242	B	0.023	0.21085	B	0.133187	0.02825	U	2.117960	1	0.08975	N	0.345	0.11182	N	0.91	0.44856	T	-0.51	0.15986	N	0.133	0.15888	-1.0566	0.12621	T	0.022	0.09193	T	10	0.048917174	0.04408	T	0.00427	0.10341	T	0.009	0.00846	0.414	0.45216	0.0297737177859	0.01360	0.07244114969078656	0.07181	0.175722224734	0.19779	0.233947008848	0.02273	T	0.128046	0.45546	T	-0.42091	0.01687	T	-0.74553	0.03662	T	0.0203009340365927	0.00730	T	0.112089	0.00902	T	0.021564985	0.00766	0.026425095	0.00731	0.021564985	0.00766	0.026425095	0.00731	-4.601	0.32184	T	.	.	0.073	0.06341	B	.;.;.	.;.;.	0.226816	0.06087	2.529	0.70859119482331157	0.09435	0.04339	0.09901	N	AEFBI	0.144997	0.26811	N	-1.31216736309469	0.03535	0.1580687	-1.29888137399362	0.04446	0.2097381	0.00455901836557615	0.10614	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.44	-0.477	0.11493	-0.108000	0.10827	0.834000	0.21977	-0.822000	0.02949	0.000000	0.06391	0.000000	0.08366	0.394000	0.26647	0.292:0.345:0.3629:0.0	4.464	0.11100	496	0.76301	Major facilitator superfamily domain;.;Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1018.43	33	chr6	25923748	.	C	T	1018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-1.702;SOR=0.67	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1030,0,1610	9	0	1	0
chr6	25923906	25923906	C	T	exonic	SLC17A2	.	nonsynonymous SNV	SLC17A2:NM_001286125:exon2:c.G29A:p.G10D,SLC17A2:NM_001286123:exon3:c.G29A:p.G10D,SLC17A2:NM_005835:exon3:c.G29A:p.G10D	.	430	1036	49	7	0	63	0.0295082	0.7839	0.638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0060	0.00698882	0.0101	0.0021	0.0070	0.0007	0.0035	0.0088	0.0156	0.0296	0.0091461	1414	154602	rs111909699	0.0075	0.0076	0.0064	0.0086	0.0313	0.0074	0.0074	0.0304	0.0300	0.0036	0.0073	0.0409	0.0007	0.0017	0.0286	0.0053	0.0098	0.0313	0.0062	0.0062	0.0059	0.0066	0.0263	0.0059	0.0058	0.0226	0.0212	0.0020	0.0088	0.0084	0.0357	0.0029	0.0022	0.0340	0.0060	0.0085	0.0263	0.075	0.34444	T	0.076	0.43344	T	0.007	0.14184	B	0.011	0.17743	B	0.019937	0.27150	N	0.266084	0.609647	0.30871	N	1.625	0.41611	L	-0.36	0.68754	T	-3.25	0.65283	D	0.216	0.24135	-1.0356	0.18668	T	0.091	0.34874	T	10	0.0032121837	0.00055	T	0.007218	0.19143	T	0.081	0.23632	.	.	.	.	0.3683833381169317	0.36752	0.288833652851	0.31292	0.336609959602	0.15930	T	0.249732	0.61973	T	-0.404966	0.02148	T	-0.33217	0.41227	T	0.0156558679385458	0.00359	T	0.360464	0.12562	T	0.14079377	0.32469	0.17332493	0.39651	0.14079377	0.32469	0.17332493	0.39650	-6.448	0.49884	T	.	.	0.115	0.23077	B	.;.;.	.;.;.	2.167978	0.27628	17.53	0.9886795882934537	0.47597	0.08222	0.14179	N	AEFGBI	0.131061	0.24985	N	-0.52049312443909	0.21418	1.136514	-0.445891988888644	0.23666	1.291768	0.0923378630642152	0.16156	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.11	3.2	0.35826	-0.213000	0.09309	0.808000	0.21724	0.599000	0.40250	0.011000	0.18532	0.956000	0.29165	0.932000	0.46971	0.1819:0.6427:0.1754:0.0	8.040	0.29677	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026423	0.010309	0.028533	0.038690	0.050000	0.000000	0.024845	0.022727	0.05	283.43	27	chr6	25923906	.	C	T	283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.553;DP=261;ExcessHet=0;FS=2.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.041;SOR=0.275	GT:AD:DP:GQ:PL	0/0:22,0:22:57:0,57,855	9	0	1	0
chr6	26017608	26017608	G	A	exonic	H1-1	.	nonsynonymous SNV	H1-1:NM_005325:exon1:c.C125T:p.S42F	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	0.0004	0.00519169	0.0031	0	0.0011	0.0020	0	0.0005	0	0.0185	0.0027749	429	154602	rs117409123	0.0015	0.0015	0.0010	0.0021	0.0199	0.0015	0.0015	0.0191	0.0188	2.987e-05	0.0011	0.0019	0.0020	1.872e-05	0.0036	0.0002	0.0021	0.0199	0.0011	0.0011	0.0008	0.0015	0.0232	0.0010	0.0009	0.0197	0.0184	0.0001	0	0.0004	0.0009	0.0039	0	0.0034	0.0003	0.0019	0.0232	0.004	0.65419	D	0.023	0.57104	D	0.999	0.77913	D	0.995	0.83170	D	0.005132	0.33071	N	0.303017	0.999696	0.48338	D	3.655	0.94224	H	1.76	0.25996	T	-4.73	0.80085	D	0.63	0.64393	-0.6444	0.62957	T	0.173	0.51548	T	10	0.011164337	0.00245	T	.	.	.	0.246	0.55340	.	.	0.465975295344	0.46225	0.4152561661665899	0.41441	.	.	0.565297365189	0.48014	T	0.436153	0.78264	T	-0.23248	0.16323	T	-0.0924373	0.63978	T	0.0975846548426396	0.12089	T	0.907509	0.67274	D	0.714415	0.78851	0.70422626	0.82566	0.714415	0.78853	0.70422626	0.82567	-11.151	0.80479	D	.	.	0.844	0.79468	P	.	.	3.952823	0.57923	23.9	0.99579891445651514	0.72921	0.52608	0.29172	D	ALL	0.221011	0.34569	N	0.274098392782029	0.54840	3.648676	0.0141882615851617	0.40373	2.408363	0.999999999725645	0.74766	0.378867	0.05890	3	0.587068	0.34093	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.2	4.2	0.48814	2.184000	0.42205	9.227000	0.79333	0.676000	0.76740	0.703000	0.28654	1.000000	0.68203	0.002000	0.04165	0.0:0.294:0.706:0.0	11.914	0.52035	479	0.77495	Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15|Linker histone H1/H5, domain H15	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	2118.43	33	chr6	26017608	.	G	A	2118.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.141;DP=514;ExcessHet=0;FS=2.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.275;SOR=0.529	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1134	9	0	1	0
chr6	26027179	26027179	-	A	exonic	H4C2	.	frameshift insertion	H4C2:NM_003544:exon1:c.73_74insT:p.D25Vfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2985.39	144	chr6	26027179	.	T	TA	2985.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.61;DP=800;ExcessHet=0;FS=10.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.56;ReadPosRankSum=0.895;SOR=0.286	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	9	0	1	0
chr6	26056347	26056347	C	T	exonic	H1-2	.	nonsynonymous SNV	H1-2:NM_005319:exon1:c.G82A:p.A28T	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00220051817089	0.0015	0.00159744	0.0017	0.0002	0.0006	0.0010	0	0.0017	0.0078	0.0044	0.0015912	246	154602	rs75040909	0.0013	0.0013	0.0012	0.0015	0.0073	0.0013	0.0013	0.0055	0.0049	0.0003	0.0015	0.0061	0.0006	0	0.0073	0.0010	0.0021	0.0045	0.0012	0.0012	0.0008	0.0015	0.0050	0.0010	0.0010	0.0034	0.0029	0.0002	0	0.0029	0.0058	0.0021	0	0	0.0010	0.0014	0.0050	0.093	0.31532	T	0.137	0.33894	T	0.012	0.16265	B	0.012	0.16012	B	0.768963	0.09563	N	0.899617	1	0.08975	N	1.375	0.34280	L	2.6	0.13204	T	-1.05	0.27463	N	0.234	0.26354	-0.9373	0.43041	T	0.007	0.02558	T	10	0.0034153163	0.00060	T	0.002201	0.04151	T	0.034	0.08419	.	.	0.124217242631	0.12060	0.23959596280641896	0.23873	.	.	0.304101377726	0.11016	T	0.312429	0.68424	T	-0.560002	0.00254	T	-0.577051	0.14809	T	0.00880658728544199	0.00109	T	0.433957	0.11861	T	0.057834122	0.11560	0.09537495	0.22617	0.057834122	0.11559	0.09537495	0.22616	-5.49	0.41775	T	.	.	0.069	0.02960	B	.	.	0.157627	0.05486	1.953	0.94215858706184186	0.24461	0.00410	0.02037	N	ALL	0.159887	0.28575	N	-1.38377965976654	0.02790	0.1236884	-1.36364405420768	0.03647	0.1705848	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.64	-1.79	0.07504	-0.153000	0.10130	-0.242000	0.10582	-0.821000	0.02958	0.001000	0.13787	0.003000	0.18671	0.000000	0.00833	0.0767:0.718:0.2052:0.0	14.715	0.68874	454	0.79125	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	558.43	46	chr6	26056347	.	C	T	558.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=377;ExcessHet=0;FS=2.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.832;SOR=1.127	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr6	26234378	26234380	CTT	-	exonic	H1-3	.	nonframeshift deletion	H1-3:NM_005320:exon1:c.554_556del:p.K185_A186delinsT	.	430	1089	3	0	0	3	0.00137552	.	.	.	2822783	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0084	0.00519169	0.0057	0.0094	0.0020	0	0.0138	0.0065	0.0044	0.0030	0.0031889	83	26028	rs199868143	0.0059	0.0059	0.0058	0.0060	0.0092	0.0058	0.0057	0.0084	0.0080	0.0092	0.0020	0.0128	7.557e-05	0.0149	0.0024	0.0058	0.0053	0.0029	0.0073	0.0073	0.0070	0.0075	0.0089	0.0069	0.0068	0.0081	0.0078	0.0089	0.0011	0.0044	0.0124	0.0015	0.0132	0.0068	0.0065	0.0043	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.005051	0.004076	0.000000	0.000000	0.017241	0.012195	0.000000	0.05	1456.39	33	chr6	26234377	.	GCTT	G	1456.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.831;DP=425;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.76;ReadPosRankSum=-0.288;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1295	9	0	1	0
chr6	26368256	26368256	C	T	exonic	BTN3A2	.	nonsynonymous SNV	BTN3A2:NM_001197246:exon1:c.C74T:p.T25I,BTN3A2:NM_001197247:exon3:c.C74T:p.T25I,BTN3A2:NM_007047:exon3:c.C74T:p.T25I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0013209002674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.018	0.64786	D	0.949	0.53761	P	0.476	0.46961	P	.	.	.	.	1	0.08975	N	2.34	0.67151	M	3.34	0.06063	T	-1.31	0.32791	N	0.13	0.17553	-1.0084	0.27416	T	0.010	0.03537	T	9	0.16879958	0.31453	T	0.001321	0.01860	T	0.050	0.13987	0.484	0.56621	0.347879110917	0.34393	0.17485282138062166	0.17404	2.91440076523	0.99114	0.535364985466	0.43791	T	0.008072	0.07427	T	-0.230263	0.16614	T	-0.568533	0.15585	T	0.41487518484862	0.29500	T	0.117988	0.02126	T	0.035362504	0.04147	0.040106356	0.04260	0.035362504	0.04147	0.040106356	0.04259	-6.163	0.47623	T	.	.	0.124	0.26010	B	.;.;.;.;.	.;.;.;.;.	1.767789	0.22482	15.64	0.9769154902152094	0.35376	0.00557	0.02543	N	AEFI	0.046465	0.07720	N	-0.482748322675597	0.22645	1.210686	-0.738748432062365	0.15999	0.8442611	0.9957487983165	0.34300	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.12	0.102	0.13827	-0.829000	0.04522	-4.148000	0.02315	-0.288000	0.06323	0.000000	0.06391	0.000000	0.08366	0.299000	0.24476	0.4659:0.3749:0.0:0.1592	2.962	0.05536	712	0.56465	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2870.43	33	chr6	26368256	.	C	T	2870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=652;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.29;MQRankSum=-6.394;QD=12.06;ReadPosRankSum=-1.097;SOR=0.705	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1450	9	0	1	0
chr6	26388144	26388144	G	A	exonic	BTN2A2	.	nonsynonymous SNV	BTN2A2:NM_181531:exon3:c.G226A:p.A76T,BTN2A2:NM_001197237:exon4:c.G574A:p.A192T,BTN2A2:NM_001197238:exon4:c.G574A:p.A192T,BTN2A2:NM_006995:exon4:c.G574A:p.A192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0167294070413	.	.	0.0001	0.0012	0.0002	0	0	0	0	0	9.7e-05	15	154602	rs144410497	9.713e-05	9.713e-05	9.937e-05	9.488e-05	0.0014	8.376e-05	7.915e-05	0.0011	0.0010	0.0014	0.0002	0	0	0	0.0005	6.025e-05	0.0002	1.159e-05	0.0003	0.0003	0.0004	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.534e-05	0	0	0	0	2.94e-05	0.0014	0.0002	0.187	0.21385	T	0.316	0.33000	T	0.448	0.36030	B	0.049	0.25116	B	0.972524	0.07788	N	1.013840	1	0.28876	N	1.505	0.38159	L	-1.07	0.76948	T	-1.33	0.43717	N	0.041	0.01421	-1.0483	0.14875	T	0.093	0.35417	T	10	0.017892152	0.00385	T	0.016729	0.38123	T	0.205	0.49236	.	.	0.528009843598	0.52448	0.0782451449598303	0.07760	0.185749705581	0.20887	0.226586729288	0.01725	T	0.026669	0.19686	T	-0.441637	0.01265	T	-0.463505	0.26218	T	0.010473016104982	0.00145	T	0.451055	0.13018	T	0.08485201	0.19658	0.0593193	0.11111	0.08485201	0.19658	0.0593193	0.11110	-6.322	0.51863	T	.	.	0.080	0.15921	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.229804	0.02942	0.432	0.79104353525013849	0.12592	0.00799	0.03256	N	AEFDGBHCI	0.044210	0.07085	N	-1.84045837105435	0.00454	0.01951271	-1.98915202852425	0.00323	0.01425634	0.999999965992899	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.696144	0.63334	0	0.669	0.65921	0	.	.	4.11	-7.03	0.01428	-0.863000	0.04367	-5.927000	0.01550	-3.487000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2028:0.1011:0.2592:0.4368	1.532	0.02384	693	0.58582	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2105.43	33	chr6	26388144	.	G	A	2105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=506;ExcessHet=0;FS=0.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.419;SOR=0.739	GT:AD:DP:GQ:PL	0/1:111,88:199:99:2117,0,2707	9	0	1	0
chr6	26405959	26405959	G	A	exonic	BTN3A1	.	nonsynonymous SNV	BTN3A1:NM_001145008:exon3:c.G136A:p.E46K,BTN3A1:NM_001145009:exon3:c.G136A:p.E46K,BTN3A1:NM_007048:exon3:c.G136A:p.E46K,BTN3A1:NM_194441:exon3:c.G136A:p.E46K	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00179712	0.0017	0	0.0002	0.0002	0	6.02e-05	0.0011	0.0123	0.0014424	223	154602	rs564000550	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0136	0.0133	0	2.35e-05	0	0.0001	0	0.0009	2.616e-05	0.0009	0.0142	0.0004	0.0004	0.0002	0.0005	0.0104	0.0003	0.0003	0.0081	0.0073	4.826e-05	0	0	0	0.0002	0	0.0034	4.41e-05	0	0.0104	0.364	0.42487	T	0.007	0.70582	D	0.068	0.26641	B	0.064	0.29270	B	.	.	.	.	1	0.08975	N	1.76	0.45711	L	4.04	0.03121	T	-1.87	0.60827	N	0.112	0.20129	-0.9912	0.32295	T	0.010	0.03856	T	9	0.006637186	0.00150	T	.	.	.	0.030	0.07022	.	.	0.263140351381	0.25927	0.5319193161700891	0.53116	0.646648351517	0.58073	0.386672407389	0.23199	T	0.006097	0.05539	T	-0.577029	0.00201	T	-0.590607	0.13614	T	0.036023576240025	0.02985	T	0.890711	0.67446	D	0.11151186	0.26351	0.07448187	0.16297	0.11151186	0.26350	0.07448187	0.16297	-6.86	0.53447	T	.	.	0.093	0.21950	B	.;.;.;.;.;.	.;.;.;.;.;.	1.516559	0.19477	14.28	0.99689232570207986	0.79842	0.03079	0.07995	N	AEFBI	0.059188	0.11158	N	-0.876245709188363	0.11410	0.5504432	-1.02213968921651	0.09299	0.4618472	0.999448181620557	0.39736	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	2.21	-1.02	0.09618	0.561000	0.23220	0.418000	0.18188	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.596000	0.31288	0.3356:0.0:0.4086:0.2558	2.072	0.03396	684	0.59539	.;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin V-set domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001742	0.000000	0.000000	0.013158	0.000000	0.000000	0.000000	0.008197	0.05	3974.43	339	chr6	26405959	.	G	A	3974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.768;DP=1154;ExcessHet=0;FS=5.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.15;MQRankSum=-2.206;QD=11.72;ReadPosRankSum=1.36;SOR=0.962	GT:AD:DP:GQ:PL	0/0:138,0:138:99:0,120,1800	9	0	1	0
chr6	26451796	26451796	G	T	exonic	BTN3A3	.	nonsynonymous SNV	BTN3A3:NM_001242803:exon6:c.G510T:p.W170C,BTN3A3:NM_197974:exon10:c.G993T:p.W331C,BTN3A3:NM_006994:exon11:c.G1140T:p.W380C	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0035	0.00299521	0.0009	0.0092	0.0003	0	0	7.493e-05	0	0	0.0008797	136	154602	rs116318960	0.0003	0.0003	0.0003	0.0003	0.0099	0.0003	0.0003	0.0090	0.0086	0.0099	0.0004	0	0	0	0.0012	3.058e-05	0.0008	2.319e-05	0.0024	0.0024	0.0025	0.0023	0.0083	0.0022	0.0022	0.0076	0.0073	0.0083	0	0.0007	0	0	0	0	7.351e-05	0.0043	0	0.168	0.23007	T	0.197	0.29442	T	0.994	0.66517	D	0.885	0.62825	P	.	.	.	.	0.999999	0.08975	N	-0.365	0.03101	N	2.96	0.09542	T	1.58	0.04022	N	0.105	0.16864	-1.0716	0.09065	T	0.009	0.03227	T	9	0.003005147	0.00049	T	.	.	.	0.080	0.23350	0.541	0.65304	0.0986583533028	0.09354	0.15523483979177866	0.15444	0.2127558496	0.23780	0.231195509434	0.02057	T	0.014561	0.12376	T	-0.598234	0.00149	T	-0.626407	0.10688	T	0.0095252678148882	0.00123	T	0.783622	0.42065	T	0.22582486	0.45251	0.16053367	0.37385	0.22582486	0.45251	0.16053367	0.37384	-3.033	0.10541	T	.	.	0.825	0.78457	P	.;.;.	.;.;.	0.729886	0.10990	7.652	0.31566683993509831	0.01785	0.00586	0.02635	N	AEFGBI	0.045146	0.07349	N	-1.40250082894442	0.02617	0.1158052	-1.60218967271139	0.01642	0.07452605	0.999999825857087	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.95	-5.9	0.02087	-6.345000	0.00086	-11.114000	0.00634	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2898:0.1617:0.5485	6.367	0.20664	667	0.61242	SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|Butyrophilin subfamily 3, PRY/SPRY domain;.;SPRY-associated|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1553.43	34	chr6	26451796	.	G	T	1553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.701;DP=521;ExcessHet=0;FS=1.21;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=2.24;SOR=0.757	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	9	0	1	0
chr6	26451935	26451935	C	A	exonic	BTN3A3	.	nonsynonymous SNV	BTN3A3:NM_001242803:exon6:c.C649A:p.P217T,BTN3A3:NM_197974:exon10:c.C1132A:p.P378T,BTN3A3:NM_006994:exon11:c.C1279A:p.P427T	.	.	.	.	.	.	.	.	.	.	.	2439335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0254519810398	.	0.000199681	4.943e-05	0.0004	8.64e-05	0	0	0	0	6.057e-05	5.82e-05	9	154602	rs113551647	4.173e-05	4.173e-05	3.947e-05	4.4e-05	0.0010	3.31e-05	3.001e-05	0.0007	0.0007	0.0010	6.708e-05	0	0	0	0	0	0.0003	5.797e-05	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	6.544e-05	0	0	0	0	0	0	0	0.054	0.38633	T	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.065	0.56745	M	-0.46	0.70014	T	-6.51	0.92217	D	0.186	0.33904	-0.7546	0.57694	T	0.323	0.69195	T	9	0.14418688	0.27366	T	0.025452	0.48419	D	0.222	0.51872	.	.	0.800185402434	0.79832	0.17372745244428012	0.17292	0.281953496348	0.30663	0.370810031891	0.20949	T	0.242118	0.61079	T	-0.274918	0.11215	T	-0.263927	0.48432	T	0.302416205406189	0.25104	T	0.843016	0.51993	T	0.25086027	0.48090	0.14523232	0.34453	0.25086027	0.48090	0.14523232	0.34452	-9.103	0.70204	D	.	.	0.423	0.60805	A	.;.	.;.	2.375404	0.30488	18.45	0.98893110217014901	0.48037	0.39084	0.26133	N	AEFGBI	0.133292	0.25290	N	-0.111360302056991	0.36898	2.139077	-0.361592506175287	0.26152	1.443	0.999941444489671	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.15	2.27	0.27501	1.870000	0.39166	2.120000	0.30714	0.465000	0.21702	0.830000	0.30133	0.026000	0.21063	0.186000	0.21481	0.0:0.7287:0.0:0.2713	5.781	0.17569	667	0.61242	SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 3, PRY/SPRY domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1604.43	34	chr6	26451935	.	C	A	1604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.378;DP=441;ExcessHet=0;FS=2.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.56;MQRankSum=0.128;QD=16.54;ReadPosRankSum=-0.876;SOR=0.985	GT:AD:DP:GQ:PL	0/1:39,58:97:99:1616,0,1053	9	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L,BTN2A1:NM_007049:exon8:c.G1237C:p.V413L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	132.18	157	chr6	26468202	.	G	C	132.18	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.809;DP=1439;ExcessHet=0;FS=162.939;InbreedingCoeff=-0.0907;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=2.89;SOR=9.149	GT:AD:DP:GQ:PL	0/0:166,0:166:10:0,10,3333	8	0	1	1
chr6	26508910	26508910	T	G	exonic	BTN1A1	.	nonsynonymous SNV	BTN1A1:NM_001732:exon8:c.T1317G:p.N439K	.	411	1110	1	0	0	1	0.000450248	.	.	.	4097975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0130990860857	0.0002	0.000399361	6.591e-05	0.0008	0	0	0	0	0	0	6.47e-05	10	154602	rs148364319	1.3e-05	1.3e-05	1.633e-05	9.625e-06	0.0004	8.31e-06	6.7e-06	0.0003	0.0002	0.0004	6.708e-05	0	0	0	0	0	1.656e-05	1.159e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.657e-05	7.25e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.576	0.06067	T	0.832	0.07342	T	0.02	0.18235	B	0.103	0.30945	B	0.951226	0.07657	N	1.022810	1	0.08975	N	0.36	0.11994	N	-0.31	0.68030	T	0.0	0.07008	N	0.089	0.15046	-1.0312	0.20066	T	0.034	0.14464	T	10	0.016797334	0.00356	T	0.013099	0.32235	T	0.061	0.17616	0.559	0.67821	0.353336612579	0.34937	0.36931215307837845	0.36845	0.601892447522	0.55219	0.323429882526	0.13940	T	0.068533	0.33481	T	-0.583525	0.00183	T	-0.687674	0.06525	T	0.0378672273697152	0.03308	T	0.667533	0.27667	T	0.0550944	0.10661	0.04505415	0.05978	0.0550944	0.10660	0.04505415	0.05978	-2.79	0.08092	T	.	.	0.123	0.32827	B	.;.	.;.	-1.406191	0.00356	0.006	0.17767358006170356	0.00531	0.04236	0.09758	N	AEFDBI	0.120574	0.23482	N	-1.5252916634504	0.01685	0.07371592	-1.59344354258248	0.01695	0.07700445	0.53709281849046	0.21222	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.84	-7.84	0.01061	-5.358000	0.00153	-5.063000	0.01865	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.099:0.2511:0.3051:0.3449	2.364	0.04050	563	0.71062	SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1547.43	33	chr6	26508910	.	T	G	1547.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=422;ExcessHet=0;FS=3.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.24;SOR=1.136	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1295	9	0	1	0
chr6	26545291	26545291	T	C	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0388961168683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.008	0.67890	D	0.997	0.70673	D	0.997	0.86255	D	0.000007	0.62929	D	0.000000	0.996416	0.43191	D	.	.	.	.	.	.	-4.53	0.78388	D	0.641	0.65330	-0.3647	0.73123	T	0.323	0.69212	T	8	0.7389529	0.74820	D	0.038896	0.58494	D	0.286	0.60456	0.541	0.65304	0.326275561783	0.32232	0.22689486886573745	0.22604	0.432901375486	0.43465	0.642388820648	0.58903	T	0.532768	0.83861	D	0.152116	0.69465	D	-0.0192721	0.69076	D	0.991724848747253	0.82061	D	0.79582	0.43907	T	0.8983934	0.91239	0.8107355	0.88947	0.8983934	0.91241	0.8107355	0.88947	-10.676	0.77851	D	.	.	0.640	0.70503	P	.	.	4.065148	0.60355	24.2	0.99764135443354984	0.85335	0.75721	0.37089	D	AEFBCI	0.482858	0.52354	N	0.332952614309297	0.57846	3.953785	0.228619213290326	0.51441	3.326618	0.994572453587749	0.33701	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.15	3.15	0.35301	2.141000	0.41792	6.554000	0.55920	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.0:1.0	9.989	0.41032	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1194.43	37	chr6	26545291	.	T	C	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.904;DP=406;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.41;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	9	0	1	0
chr6	26545468	26545468	G	A	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.G262A:p.D88N	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	.	0.0047	0.0105831	0.0057	0.0143	0.0022	0.0075	0	0.0009	0.0049	0.0312	0.0049999	773	154602	rs34511704	0.0025	0.0026	0.0019	0.0032	0.0262	0.0025	0.0024	0.0253	0.0249	0.0120	0.0025	4.454e-05	0.0043	3.881e-05	0.0070	0.0006	0.0042	0.0262	0.0057	0.0057	0.0053	0.0061	0.0292	0.0054	0.0053	0.0253	0.0238	0.0138	0.0110	0.0032	0	0.0042	0	0.0034	0.0009	0.0052	0.0292	0.023	0.48186	D	0.052	0.47581	T	0.284	0.32165	B	0.218	0.37679	B	0.000005	0.62929	D	0.000000	0.97212	0.25618	N	.	.	.	.	.	.	-3.94	0.73378	D	0.191	0.20925	-1.0059	0.28186	T	0.074	0.29770	T	8	0.0047082305	0.00099	T	.	.	.	0.149	0.39377	.	.	0.229543500084	0.22568	0.12692977292968816	0.12618	0.592345308843	0.54628	0.386521339417	0.23178	T	0.27839	0.65104	T	-0.260621	0.12828	T	-0.612141	0.11812	T	0.0685672644446638	0.08448	T	0.857514	0.54691	D	0.33108982	0.55559	0.31346735	0.57343	0.33108982	0.55559	0.31346735	0.57343	-6.869	0.53070	T	.	.	0.096	0.15475	B	.	.	3.571292	0.50303	22.9	0.99899455706022633	0.97199	0.91555	0.53775	D	AEFBCI	0.364117	0.45278	N	-0.0508662545877477	0.39563	2.335146	-0.0386817125047097	0.37985	2.23153	0.999815831251024	0.43459	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.83	3.83	0.43287	4.447000	0.59762	3.842000	0.40046	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.0:0.0:1.0:0.0	14.028	0.64118	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.020202	0.004076	0.008772	0.000000	0.000000	0.003049	0.007576	0.05	1519.43	38	chr6	26545468	.	G	A	1519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.529;DP=513;ExcessHet=0;FS=2.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.15;SOR=0.87	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr6	27310582	27310582	G	A	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.C1589T:p.A530V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00457380117422	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931459915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.025	0.56192	D	.	.	.	.	.	.	0.055521	0.22635	N	0.224693	0.852663	0.28474	N	1.385	0.34509	L	1.94	0.22678	T	-2.33	0.51646	N	0.033	0.00882	-1.0093	0.27136	T	0.021	0.08917	T	10	0.06081772	0.07530	T	0.004574	0.11283	T	0.037	0.09474	0.228	0.15406	0.0401082797425	0.02173	0.28922171704253374	0.28835	.	.	0.254709690809	0.04280	T	0.016631	0.13711	T	-0.321687	0.06761	T	-0.699857	0.05834	T	0.437501043081284	0.30337	T	0.454055	0.12934	T	0.08149508	0.18729	0.12834299	0.30879	0.08149508	0.18729	0.12834299	0.30878	-3.999	0.23789	T	.	.	0.122	0.25364	B	.	.	1.722228	0.21927	15.41	0.99824631958357912	0.90677	0.35993	0.25431	N	AEFDBI	0.065033	0.12662	N	-0.709333535591486	0.15758	0.7970068	-0.707749686166026	0.16767	0.8885786	0.00176535619173559	0.08861	0.516011	0.20929	0	0.610034	0.51514	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.41	2.64	0.30504	1.255000	0.32512	1.631000	0.27739	-0.186000	0.09761	0.088000	0.22533	0.006000	0.19429	0.249000	0.23237	0.2046:0.0:0.7954:0.0	7.159	0.24831	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	438.25	75	chr6	27310582	.	G	A	438.25	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-3.12;DP=778;ExcessHet=2.8389;FS=220.933;InbreedingCoeff=-0.4801;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.511;SOR=9.641	GT:AD:DP:GQ:PL	0/1:70,27:97:68:68,0,1538	2	0	5	3
chr6	27310642	27310642	C	T	exonic	POM121L2	.	nonsynonymous SNV	POM121L2:NM_033482:exon1:c.G1529A:p.G510E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00668419276097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.073	0.43159	T	.	.	.	.	.	.	0.236612	0.15804	N	0.465312	1	0.08975	N	1.07	0.27075	L	1.92	0.23082	T	-4.17	0.75456	D	0.32	0.36043	-1.0041	0.28725	T	0.021	0.08686	T	10	0.13414446	0.25530	T	0.006684	0.17642	T	0.143	0.38195	0.18	0.08751	0.192905019026	0.18896	0.3533104726816691	0.35245	.	.	0.318382441998	0.13175	T	0.093989	0.39324	T	-0.0476337	0.44807	T	-0.306199	0.44067	T	0.84768271446228	0.49967	D	0.453855	0.12912	T	0.2968062	0.52616	0.38340625	0.63305	0.2968062	0.52616	0.38340625	0.63305	-4.262	0.27641	T	.	.	0.202	0.42664	B	.	.	1.977534	0.25120	16.65	0.94001136403262431	0.24095	0.11375	0.16592	N	AEFDBI	0.060594	0.11524	N	-0.597403043771207	0.19023	0.992391	-0.774832773255192	0.15113	0.793231	5.53285338380474E-4	0.07304	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.16	0.114	0.13945	1.592000	0.36286	0.497000	0.18957	0.469000	0.21855	0.087000	0.22510	0.002000	0.18203	0.137000	0.19835	0.0:0.3995:0.5021:0.0984	7.524	0.26816	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1365.43	66	chr6	27310642	.	C	T	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.28;DP=600;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=-1.688;SOR=0.786	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,111,1736	9	0	1	0
chr6	27400987	27400987	C	A	exonic	ZNF391	.	nonsynonymous SNV	ZNF391:NM_001076781:exon3:c.C617A:p.T206N,ZNF391:NM_001322293:exon3:c.C617A:p.T206N,ZNF391:NM_001322288:exon4:c.C617A:p.T206N,ZNF391:NM_001322289:exon4:c.C617A:p.T206N	.	406	1113	3	0	0	3	0.0013459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0082	0.0061901	0.0022	0.0249	0.0018	0	0	4.497e-05	0.0011	0	0.0021733	336	154602	rs114755441	0.0007	0.0007	0.0008	0.0006	0.0237	0.0007	0.0007	0.0224	0.0218	0.0237	0.0018	0	0	0	0.0012	4.227e-05	0.0015	6.956e-05	0.0066	0.0066	0.0069	0.0063	0.0233	0.0063	0.0061	0.0221	0.0216	0.0233	0	0.0014	0	0	0	0	8.82e-05	0.0047	0	0.047	0.40319	D	0.007	0.69154	D	0.944	0.53183	P	0.655	0.52639	P	.	.	.	.	1	0.08975	N	0.56	0.15190	N	3.19	0.07353	T	-2.12	0.48184	N	0.103	0.08646	-0.9757	0.35970	T	0.011	0.03996	T	9	0.0036744475	0.00067	T	.	.	.	0.110	0.31079	.	.	0.27855597813	0.27464	0.02127699188167222	0.02080	0.462538365587	0.45786	0.611326098442	0.54503	T	0.048566	0.28055	T	-0.717968	0.00028	T	-0.784491	0.02321	T	0.0292857124787465	0.01880	T	0.212079	0.02586	T	0.20231915	0.42272	0.239326	0.49278	0.20231915	0.42272	0.239326	0.49277	-6.892	0.53240	T	.	.	0.584	0.68223	P	.	.	3.009104	0.40238	21.1	0.97180720741461601	0.32718	0.01680	0.05366	N	AEFGBHCI	0.072838	0.14549	N	-0.169805972006157	0.34395	1.962715	-0.244313135769546	0.29967	1.683316	0.024917045281246	0.13612	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	4.01	4.01	0.45821	0.039000	0.13770	1.364000	0.25903	0.524000	0.24156	0.000000	0.06391	0.001000	0.17328	0.997000	0.79791	0.0:0.7898:0.2102:0.0	9.846	0.40196	568	0.70638	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	992.43	33	chr6	27400987	.	C	A	992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.762;DP=379;ExcessHet=0;FS=1.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-0.378;SOR=0.851	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,978	9	0	1	0
chr6	27957298	27957298	C	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.C58G:p.R20G	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0006	0.00998403	0.0054	0.0009	0.0004	0.0093	0	0.0002	0.0044	0.0331	0.004877	754	154602	rs150850606	0.0026	0.0026	0.0016	0.0036	0.0349	0.0025	0.0025	0.0339	0.0335	0.0010	0.0004	0	0.0055	0	0.0036	0.0002	0.0045	0.0349	0.0022	0.0022	0.0013	0.0032	0.0504	0.0020	0.0019	0.0452	0.0432	0.0010	0	6.54e-05	0	0.0064	0	0	0.0002	0.0033	0.0504	0.021	0.49117	D	0.244	0.24123	T	0.353	0.33698	B	0.157	0.34536	B	0.609690	0.10879	U	0.689868	0.999958	0.19072	N	1.43	0.35840	L	5.38	0.01033	T	-4.1	0.74900	D	0.085	0.06190	-0.8977	0.48224	T	0.002	0.00526	T	10	0.0022549927	0.00033	T	.	.	.	0.028	0.06331	.	.	0.275215494804	0.27121	0.3425048101534829	0.34163	0.123300978965	0.13890	0.182806894183	0.00122	T	0.094839	0.39497	T	-0.57761	0.00199	T	-0.580161	0.14530	T	0.019914893059643	0.00692	T	0.0368963	0.00256	T	0.24605127	0.47570	0.25376707	0.51030	0.24605127	0.47570	0.25376707	0.51030	-10.698	0.77976	D	.	.	0.165	0.36475	B	.	.	2.493447	0.32177	18.96	0.9869077426091637	0.44752	0.24863	0.22524	N	AEFGBI	0.115878	0.22766	N	-0.456082648638188	0.23534	1.264502	-0.473239551149825	0.22894	1.245783	0.0726778210527276	0.15609	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.93	3.05	0.34272	-0.511000	0.06404	-4.993000	0.01895	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.2007:0.6919:0.0:0.1074	5.479	0.16004	481	0.77356	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2259.43	35	chr6	27957298	.	C	G	2259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=469;ExcessHet=0;FS=2.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.202;SOR=0.996	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	9	0	1	0
chr6	27957616	27957616	A	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.A376G:p.I126V	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0005	0.00479233	0.0059	0.0010	0.0007	0.0003	0	0.0002	0.0033	0.0409	0.0048576	751	154602	rs143223456	0.0028	0.0028	0.0014	0.0042	0.0425	0.0027	0.0027	0.0413	0.0409	0.0013	0.0001	0.0007	0.0005	0	0.0102	0.0002	0.0015	0.0425	0.0014	0.0014	0.0009	0.0020	0.0344	0.0013	0.0012	0.0302	0.0285	0.0007	0	6.55e-05	0.0006	0.0019	0	0	8.825e-05	0.0005	0.0344	0.903	0.02407	T	1.0	0.01155	T	0.008	0.14655	B	0.05	0.25278	B	0.004577	0.33608	U	0.000000	0.638709	0.32856	D	0.57	0.15267	N	0.73	0.50721	T	-0.08	0.08187	N	0.508	0.53972	-1.0650	0.10549	T	0.042	0.17869	T	10	0.006839961	0.00155	T	.	.	.	0.105	0.29889	.	.	0.54456359225	0.54111	0.14947189597647004	0.14869	0.0639061766001	0.07121	0.325245440006	0.14215	T	0.005922	0.05364	T	-0.457479	0.01019	T	-0.431387	0.29779	T	0.0305732340930483	0.02079	T	0.622038	0.23930	T	0.06276232	0.13143	0.062467888	0.12226	0.06276232	0.13143	0.062467888	0.12225	-4.159	0.26155	T	.	.	0.097	0.15877	B	.	.	1.988445	0.25265	16.70	0.39403202385802433	0.02717	0.97488	0.75073	D	AEFGBI	0.466915	0.51436	N	-0.377714764813272	0.26264	1.432113	-0.258030348275566	0.29496	1.652963	0.998758606467048	0.37602	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.68	3.68	0.41359	6.849000	0.75212	0.068000	0.14222	0.752000	0.88150	1.000000	0.71638	0.000000	0.08366	0.996000	0.76049	1.0:0.0:0.0:0.0	10.916	0.46346	481	0.77356	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.000000	0.005435	0.035088	0.000000	0.008621	0.009146	0.037879	0.05	1790.43	35	chr6	27957616	.	A	G	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.009;DP=465;ExcessHet=0;FS=0.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=2.31;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	9	0	1	0
chr6	28074313	28074313	G	T	exonic	OR1F12	.	nonsynonymous SNV	OR1F12:NM_001355425:exon1:c.G998T:p.R333L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.55	4	chr6	28074313	.	G	T	33.55	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=13;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=53.68;MQRankSum=0.967;QD=11.18;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,32	5	0	1	4
chr6	28301734	28301734	A	G	exonic	PGBD1	.	nonsynonymous SNV	PGBD1:NM_001184743:exon7:c.A1880G:p.D627G,PGBD1:NM_032507:exon7:c.A1880G:p.D627G	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.00648496979473	0.0002	.	9.062e-05	0	8.649e-05	0.0005	0	5.993e-05	0.0011	6.056e-05	7.12e-05	11	154602	rs141087060	2.599e-05	2.599e-05	2.178e-05	3.025e-05	0.0007	1.932e-05	1.692e-05	0.0002	0.0001	0	8.944e-05	0	0.0003	0	0.0007	1.079e-05	3.312e-05	5.797e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0	0.004	0.65419	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.004272	0.33923	N	0.099543	0.928	0.27119	N	3.145	0.88303	M	1.88	0.23884	T	-4.89	0.81431	D	0.469	0.50508	-1.0591	0.11981	T	0.079	0.31314	T	10	0.36909407	0.53333	T	0.006485	0.17072	T	0.339	0.66106	.	.	0.357929162469	0.35400	0.7276541486219065	0.72709	.	.	0.447443157434	0.31595	T	0.068658	0.33512	T	-0.00409573	0.51089	T	0.07635	0.75334	D	0.660823225975037	0.38932	D	0.859714	0.55187	D	0.46073937	0.64717	0.5495943	0.73959	0.46073937	0.64717	0.5495943	0.73959	-4.023	0.24147	T	.	.	0.131	0.28086	B	.	.	4.174871	0.62805	24.5	0.99679153442928836	0.79108	0.83842	0.42935	D	AEFGBI	0.238621	0.36071	N	0.515738277049854	0.68021	5.160037	0.440793192140609	0.64127	4.660955	0.1833473439248	0.17902	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.66	3.5	0.39181	3.422000	0.52509	5.039000	0.46894	0.756000	0.94297	1.000000	0.71638	0.582000	0.25626	0.999000	0.91618	0.8979:0.0:0.1021:0.0	7.017	0.24071	531	0.73574	PiggyBac transposable element-derived protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2192.43	168	chr6	28301734	.	A	G	2192.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.757;DP=941;ExcessHet=0;FS=1.197;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.286;SOR=0.801	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	9	0	1	0
chr6	28996364	28996364	A	C	exonic	ZNF311	.	nonsynonymous SNV	ZNF311:NM_001382360:exon7:c.T638G:p.V213G,ZNF311:NM_001010877:exon8:c.T638G:p.V213G,ZNF311:NM_001350637:exon8:c.T494G:p.V165G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0014413553229	.	.	8.612e-06	0	0	0	0	0	0	6.152e-05	6.5e-06	1	154602	rs748685657	2.055e-06	2.052e-06	1.363e-06	2.754e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.15984	T	0.341	0.17964	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.48	0.05130	T	-1.54	0.37375	N	0.103	0.08646	-0.9118	0.46632	T	0.003	0.00864	T	9	0.04390773	0.03291	T	0.001441	0.02164	T	0.012	0.01476	0.314	0.28935	0.0401082797425	0.02173	0.06358954186880594	0.06297	0.247604859917	0.27312	0.232464656234	0.02155	T	0.007171	0.06585	T	-0.405384	0.02133	T	-0.719453	0.04823	T	0.0399870666030546	0.03687	T	.	.	.	0.046227723	0.07701	0.06778981	0.14072	0.046227723	0.07700	0.06778981	0.14071	-3.063	0.10876	T	.	.	0.077	0.06617	B	.	.	0.352755	0.07257	3.859	0.23857183976963381	0.01028	0.05095	0.10894	N	AEFBI	0.083513	0.16920	N	-1.83546514798207	0.00464	0.01996958	-1.83698900867038	0.00648	0.02880207	0.997372924358631	0.35551	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.11	-0.731	0.10589	-1.835000	0.01786	0.428000	0.18294	-2.768000	0.00193	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4676:0.4143:0.1181:0.0	4.335	0.10522	749	0.51929	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1595.43	41	chr6	28996364	.	A	C	1595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.955;DP=520;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.802;SOR=0.596	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1498	9	0	1	0
chr6	29087019	29087019	G	A	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.C230T:p.T77I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00178951095871	.	.	1.647e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs767546356	2.052e-06	2.052e-06	2.723e-06	1.375e-06	7.557e-05	5.5e-07	1.5e-07	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.684	0.04379	T	0.989	0.02371	T	0.034	0.20480	B	0.038	0.23361	B	0.022170	0.26687	U	0.174125	1	0.08975	N	0.01	0.07948	N	5.88	0.00632	T	-1.91	0.44471	N	0.077	0.05162	-0.9952	0.31245	T	0.000	0.00152	T	10	0.04743159	0.04060	T	0.00179	0.03063	T	0.055	0.15663	0.236	0.16608	0.297375071883	0.29337	0.22651449912282642	0.22566	0.0205895813288	0.02023	0.257685065269	0.04620	T	0.033019	0.22737	T	-0.471765	0.00829	T	-0.689733	0.06404	T	0.0444200623901237	0.04497	T	.	.	.	0.054559406	0.10483	0.12587725	0.30323	0.054559406	0.10483	0.12587725	0.30322	-4.602	0.32197	T	.	.	0.121	0.24967	B	.	.	0.937697	0.13134	9.634	0.36054590991674468	0.02298	0.01097	0.04030	N	AEFI	0.026261	0.01940	N	-0.874775260295911	0.11446	0.5523445	-0.739472399175385	0.15981	0.8432277	5.28764911934318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	3.02	0.33970	-0.520000	0.06338	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.3021:0.0:0.6979:0.0	6.838	0.23132	754	0.51307	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	82.43	38	chr6	29087019	.	G	A	82.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.112;DP=622;ExcessHet=0;FS=112.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=1.44;SOR=6.803	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1234	9	0	1	0
chr6	29396952	29396952	T	C	exonic	OR12D2	.	nonsynonymous SNV	OR12D2:NM_013936:exon1:c.T253C:p.S85P	.	433	1086	2	1	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0070	0.0071885	0.0021	0.0199	0.0027	0	0	0.0004	0.0034	6.15e-05	0.0021086	326	154602	rs36210742	0.0011	0.0011	0.0012	0.0010	0.0208	0.0010	0.0010	0.0195	0.0190	0.0208	0.0033	0.0018	0	1.911e-05	0.0029	0.0005	0.0022	8.115e-05	0.0069	0.0069	0.0069	0.0068	0.0212	0.0065	0.0064	0.0201	0.0196	0.0212	0	0.0067	0.0012	0	0	0.0068	0.0005	0.0085	0	.	.	.	.	.	.	0.985	0.61118	D	0.845	0.60432	P	0.000643	0.42656	D	0.105404	1	0.08975	N	1.665	0.42610	L	.	.	.	.	.	.	.	.	-0.9906	0.32449	T	0.007	0.02360	T	10	0.0047141314	0.00099	T	.	.	.	.	.	.	.	.	.	0.2880232652262954	0.28715	.	.	0.221697181463	0.01410	T	0.008825	0.08077	T	-0.66199	0.00061	T	-0.705426	0.05534	T	0.0544882621581406	0.06272	T	0.715628	0.32820	T	0.43667436	0.63188	0.67305386	0.80810	0.43667436	0.63188	0.67305386	0.80811	-9.688	0.72023	D	.	.	0.182	0.39459	B	.;.	.;.	2.642780	0.34393	19.61	0.94938679103200041	0.25830	0.03101	0.08031	N	AEFBI	0.097524	0.19667	N	-0.521525425855912	0.21384	1.135	-0.788336593465527	0.14781	0.7741172	1.44334063771775E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	1.33	0.20958	-0.978000	0.03888	.	.	0.409000	0.20633	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1463:0.0:0.3028:0.5509	6.430	0.20993	814	0.42100	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002711	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3695.43	34	chr6	29396952	.	T	C	3695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.49;DP=1281;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0.958;QD=12.2;ReadPosRankSum=1.08;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1136:.	9	0	1	0
chr6	29440023	29440023	C	A	exonic	OR10C1	.	nonsynonymous SNV	OR10C1:NM_013941:exon1:c.C8A:p.A3E	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0055	0.0071885	0.0119	0.0017	0.0729	0.0002	0.0020	0.0052	0.0057	0.0110	0.0112353	1737	154602	rs151242842	0.0067	0.0067	0.0069	0.0066	0.0708	0.0066	0.0066	0.0687	0.0679	0.0012	0.0708	0.0204	5.038e-05	0.0020	0.0021	0.0042	0.0069	0.0104	0.0093	0.0093	0.0085	0.0100	0.0530	0.0089	0.0087	0.0500	0.0487	0.0018	0	0.0530	0.0193	0.0004	0.0027	0	0.0054	0.0071	0.0097	0.673	0.04521	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.839454	0.06990	N	1.122610	1	0.08975	N	-0.35	0.03145	N	2.53	0.14038	T	1.31	0.00936	N	.	.	-0.9396	0.42679	T	0.003	0.01092	T	10	0.0028084517	0.00044	T	.	.	.	0.025	0.05312	.	.	.	.	0.20490289864576475	0.20407	0.392072762019	0.40400	0.224260225892	0.01570	T	7.94E-4	0.00383	T	-0.660031	0.00063	T	-0.665793	0.07881	T	0.0159267295419786	0.00376	T	.	.	.	0.030308215	0.02671	0.08204786	0.18695	0.030308215	0.02671	0.08204786	0.18694	-2.786	0.08055	T	.	.	0.085	0.15609	B	.;.	.;.	0.548062	0.09168	5.949	0.86626179963557293	0.16663	0.02594	0.07157	N	AEFBI	0.039787	0.05827	N	-1.37168599175421	0.02906	0.1290484	-1.29415926247398	0.04509	0.2128357	3.4293503144431E-5	0.03775	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.27	2.37	0.28337	-1.388000	0.02638	.	.	-0.469000	0.05095	0.000000	0.06391	0.000000	0.08366	0.371000	0.26133	0.2075:0.6793:0.0:0.1132	5.150	0.14333	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003268	0.005051	0.001359	0.015957	0.000000	0.000000	0.000000	0.000000	0.05	1170.43	77	chr6	29440023	.	C	A	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=412;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.382;SOR=0.852	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	9	0	1	0
chr6	29588323	29588323	C	T	exonic	OR2H2	.	nonsynonymous SNV	OR2H2:NM_007160:exon1:c.C379T:p.P127S	.	422	1083	17	0	0	17	0.00778745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	.	0.0009	0.00479233	0.0030	0	0.0003	0.0023	0	0.0015	0.0023	0.0138	0.0026067	403	154602	rs36211077	0.0019	0.0019	0.0015	0.0024	0.0146	0.0019	0.0018	0.0139	0.0137	0.0001	0.0004	0.0015	0.0004	5.728e-05	0.0031	0.0012	0.0018	0.0146	0.0012	0.0012	0.0012	0.0012	0.0101	0.0011	0.0010	0.0079	0.0071	0.0001	0	0.0004	0.0012	0.0043	9.425e-05	0.0034	0.0013	0.0014	0.0101	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000989	0.40743	D	0.000000	1	0.81001	D	4.22	0.97912	H	4.61	0.01851	T	-7.67	0.95542	D	0.346	0.38746	-1.0129	0.26007	T	0.039	0.16634	T	10	0.0117381215	0.00255	T	.	.	.	0.291	0.61040	.	.	0.564243864375	0.56087	0.5850661173529549	0.58436	0.738653638115	0.63117	0.254161566496	0.04219	T	0.013843	0.11897	T	-0.172006	0.24932	T	-0.00817539	0.69804	D	0.178155012835985	0.19118	T	.	.	.	0.4455353	0.63758	0.5166225	0.72071	0.4455353	0.63759	0.5166225	0.72072	-10.746	0.78246	D	.	.	0.422	0.60762	A	.;.	.;.	3.317100	0.45604	22.2	0.99885168419827053	0.96049	0.98101	0.79606	D	AEFDGBI	0.569187	0.57407	D	0.706003665860748	0.80028	7.203922	0.525141837499823	0.69689	5.396006	0.999999998557044	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.536957	0.11973	0	0.542086	0.14980	0	.	.	4.29	4.29	0.50359	4.703000	0.61511	.	.	0.549000	0.26987	1.000000	0.71638	0.012000	0.20211	0.071000	0.16709	0.0:1.0:0.0:0.0	15.656	0.76888	846	0.36215	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007081	0.000000	0.002717	0.005319	0.000000	0.008621	0.015244	0.015152	0.1	6571.12	36	chr6	29588323	.	C	T	6571.12	.	AC=2;AF=0.1;AN=20;DP=561;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.59;SOR=0.902	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	1	0	0
chr6	29673620	29673620	C	T	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G275A:p.R92Q,ZFP57:NM_001109809:exon5:c.G491A:p.R164Q	Diabetes mellitus, transient neonatal, 1	0	1503	19	0	0	19	0.00628099	.	.	.	299746	not_provided|Monogenic_diabetes|Diabetes_mellitus,_transient_neonatal,_1|Transitory_neonatal_diabetes_mellitus	MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.010	.	0.0011	0.0139776	0.0068	0.0039	0.0018	0.0106	0	0.0003	0.0047	0.0378	0.0059702	923	154602	rs200541066	0.0032	0.0032	0.0021	0.0043	0.0398	0.0031	0.0031	0.0387	0.0382	0.0049	0.0021	3.832e-05	0.0062	3.825e-05	0.0049	0.0003	0.0061	0.0398	0.0037	0.0037	0.0028	0.0047	0.0599	0.0034	0.0033	0.0542	0.0520	0.0040	0	0.0026	0	0.0060	0	0.0034	0.0004	0.0033	0.0599	0.366	0.11696	T	0.716	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.620697	0.10781	N	0.753424	1	0.08975	N	.	.	.	3.5	0.05014	T	0.22	0.07444	N	0.034	0.01068	-0.9143	0.46311	T	0.002	0.00738	T	10	0.0022684336	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0846915920261	0.08053	0.07343996282041032	0.07280	0.484552586258	0.47362	0.288189262152	0.08659	T	0.033722	0.23030	T	-0.777633	0.00011	T	-0.86403	0.00801	T	0.00256213137071298	0.00027	T	0.580242	0.20999	T	0.02677811	0.01780	0.044516083	0.05784	0.03501257	0.04041	0.045016915	0.05964	-3.44	0.15683	T	.	.	0.109	0.26514	B	.;.;.	.;.;.	0.104313	0.05051	1.595	0.67320172402372191	0.08319	0.02443	0.06880	N	AEFBI	0.116802	0.22908	N	-2.34229440237499	0.00036	0.001566646	-2.35604353455089	0.00050	0.002183283	0.978084408889132	0.29885	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.36	-3.73	0.04112	0.248000	0.17971	.	.	-1.957000	0.00479	0.000000	0.06391	0.007000	0.19602	0.020000	0.11549	0.0874:0.3646:0.1792:0.3687	3.284	0.06518	856	0.34373	.;.;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008715	0.000000	0.005435	0.010638	0.000000	0.000000	0.000000	0.034091	0.05	1114.43	33	chr6	29673620	.	C	T	1114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.174;DP=419;ExcessHet=0;FS=3.853;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.67;SOR=1.132	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr6	29725033	29725033	C	A	exonic	HLA-F	.	nonsynonymous SNV	HLA-F:NM_001098479:exon4:c.C613A:p.P205T,HLA-F:NM_018950:exon4:c.C613A:p.P205T	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00321361733172	0.0013	0.000399361	0.0003	0.0032	0.0002	0	0	0	0	0	0.0002393	37	154602	rs142311857	9.38e-05	9.371e-05	0.0001	8.397e-05	0.0030	8.1e-05	7.591e-05	0.0025	0.0023	0.0030	0.0004	0	0	0	0	8.999e-07	0.0002	4.639e-05	0.0006	0.0006	0.0007	0.0005	0.0021	0.0005	0.0005	0.0018	0.0016	0.0021	0	0.0005	0	0	0	0	0	0	0	0.001	0.91255	D	0.01	0.66756	D	0.999	0.77913	D	0.924	0.65913	D	0.028753	0.25556	U	0.185313	1	0.81001	D	2.83	0.82355	M	2.47	0.14783	T	-4.59	0.78891	D	0.193	0.22486	-1.1174	0.02503	T	0.065	0.26737	T	10	0.0112665	0.00247	T	0.003214	0.07057	T	0.064	0.18567	.	.	0.327419511103	0.32360	0.22788755388502502	0.22703	1.45737370537	0.86285	0.261735677719	0.05099	T	0.293734	0.66644	T	-0.500544	0.00568	T	-0.494824	0.22886	T	0.0724126066829627	0.08986	T	0.715328	0.32778	T	0.30873558	0.53676	0.3293349	0.58814	0.30873558	0.53676	0.3293349	0.58813	-9.016	0.70003	D	.	.	0.116	0.23395	B	.;.;.	.;.;.	2.330991	0.29859	18.26	0.99493138493846722	0.67573	0.09356	0.15128	N	AEFDGBHCI	0.111855	0.22131	N	-0.205067747230101	0.32926	1.862303	-0.43852055417388	0.23876	1.304387	0.999999596953064	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.493711	0.08198	1	0.59522	0.37078	0	.	.	1.92	1.92	0.24912	0.183000	0.16729	.	.	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	7.232	0.25224	856	0.34373	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001114	0.005618	0.000000	0.004902	0.000000	0.000000	0.000000	0.000000	0.05	1144.43	86	chr6	29725033	.	C	A	1144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.861;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.44;SOR=0.63	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1155	9	0	1	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.124220	0.116162	0.138587	0.075000	0.250000	0.077586	0.158537	0.140152	0.1	533.14	121	chr6	29942795	.	C	T	533.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.736;DP=1047;ExcessHet=0.2348;FS=1.473;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.39;MQRankSum=-4.226;QD=2.48;ReadPosRankSum=3.69;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:78,0:78:99:.:.:0,120,1800:.	8	0	2	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	1452.34	107	chr6	29942948	.	C	*	1452.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.5;DP=904;ExcessHet=0.7463;FS=13.851;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.111;MQ=58.94;MQRankSum=-1.391;QD=4.78;ReadPosRankSum=1.72;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:87,0:87:0:.:.:0,0,1862:.	7	0	2	1
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	15217.6	85	chr6	29942984	.	G	*	15217.6	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.174;DP=737;ExcessHet=1.0516;FS=0.566;InbreedingCoeff=-0.1253;MLEAC=1;MLEAF=0.056;MQ=59.65;MQRankSum=0;QD=26.47;ReadPosRankSum=-0.689;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:71:99:1|1:29942965_G_C:3195,3195,3195:29942965	8	0	1	1
chr6	29942985	29942985	A	0	exonic	HLA-A	.	.	.	.	8	1279	183	12	40	247	0.0748644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	632.59	85	chr6	29942985	.	A	*	632.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.24;DP=648;ExcessHet=0.2348;FS=11.292;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.071;MQ=57.51;MQRankSum=0.895;QD=4.72;ReadPosRankSum=-1.731;SOR=1.676	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:59,0:59:0:.:.:0,0,1274:.	6	0	1	3
chr6	29944308	29944308	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.C806T:p.A269V,HLA-A:NM_002116:exon4:c.C806T:p.A269V	.	3	1389	128	2	0	132	0.0453608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0410	0.0786	0.0841	0.0011	0.0347	0.0310	0.0497	0.0527	0.0001921	5	26028	rs148794540	0.0013	0.0063	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0036	0.0021	0.0033	0.0010	5.875e-05	0.0023	0.0004	0.0009	0.0015	0.0041	0.0010	0.0057	0.0012	0.0008	0.0021	0.0009	0.0008	0.0016	0.0015	0.0021	0	0.0012	0.0016	0.0003	0.0004	0	0.0006	0.0023	0.0003	0.028	0.46129	D	0.041	0.50809	D	0.029	0.90584	B	0.02	0.84481	B	0.021307	0.26859	N	0.171004	0.944011	0.26704	N	.	.	.	4.18	0.02743	T	-2.33	0.54059	N	0.085	0.09631	-1.0492	0.14621	T	0.013	0.04890	T	10	0.0030664504	0.00051	T	.	.	.	0.081	0.23632	.	.	.	.	0.09802837896223301	0.09733	0.832682807749	0.67689	0.369983077049	0.20830	T	0.026582	0.19643	T	-0.179179	0.23858	T	-0.495155	0.22852	T	0.0270032397942615	0.01544	T	0.347765	0.07665	T	0.39151996	0.60140	0.24605103	0.50105	0.39151996	0.60140	0.24605103	0.50104	-8.43	0.63965	D	.	.	0.158	0.35034	B	.;.;.;.;.	.;.;.;.;.	2.278150	0.29126	18.02	0.89634627430455549	0.18967	0.11996	0.16994	N	AEFGBCI	0.290915	0.40218	N	-0.149922629522064	0.35236	2.02149	-0.167087891439065	0.32757	1.866744	0.999999942386165	0.74766	0.67177	0.52595	0	0.685571	0.66316	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.69	3.69	0.41483	-0.929000	0.04084	.	.	0.429000	0.20894	0.000000	0.06391	0.000000	0.08366	0.232000	0.22788	0.0:1.0:0.0:0.0	11.152	0.47687	862	0.33134	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs148794540	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062092	0.075758	0.065217	0.069149	0.050000	0.034483	0.048780	0.079545	0.1	3135.14	129	chr6	29944308	.	C	T	3135.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.888;DP=1223;ExcessHet=0.2348;FS=0.455;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=43.83;MQRankSum=0.115;QD=10.92;ReadPosRankSum=0.361;SOR=0.653	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	8	0	2	0
chr6	29944565	29944565	G	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon5:c.G961A:p.V321M,HLA-A:NM_002116:exon5:c.G961A:p.V321M	.	3	1323	186	10	0	206	0.07223	.	.	.	1781407	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.070	.	.	0.0255591	0.0210	0.0424	0.0124	0.0028	0.0259	0.0233	0.0282	0.0127	0.0014359	222	154602	rs1059896	0.0002	0.0030	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0005	0.0005	5.967e-05	4.102e-05	0.0001	0.0002	9.919e-05	0.0001	0.0006	0.0002	0.0077	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0003	0	0.0003	0	0.0003	0.031	0.45039	D	0.03	0.54159	D	0.003	0.50474	B	0.017	0.53831	B	0.211648	0.16350	U	0.430133	1	0.08975	N	.	.	.	5.65	0.00800	T	-1.02	0.28084	N	0.138	0.13626	-1.0572	0.12465	T	0.003	0.01026	T	10	0.002677232	0.00041	T	.	.	.	0.070	0.20419	.	.	.	.	0.12531310856783362	0.12457	0.836547363532	0.67840	0.272338211536	0.06448	T	0.055992	0.30162	T	-0.581	0.00190	T	-0.55227	0.17107	T	0.0345302149775132	0.02728	T	0.848015	0.52922	T	0.024210302	0.01230	0.04359398	0.05459	0.024210302	0.01230	0.04359398	0.05459	-10.499	0.76842	D	.	.	0.123	0.27821	B	.;.;.	.;.;.	1.364435	0.17740	13.34	0.51719110658237677	0.04614	0.02367	0.06739	N	AEFGBHCI	0.256454	0.37537	N	-0.906902056130523	0.10679	0.5115168	-1.16424901818202	0.06515	0.3138758	0.999999991975517	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.33	-6.27	0.01850	-0.868000	0.04345	.	.	-1.242000	0.01313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2058:0.4163:0.2375:0.1404	2.239	0.03769	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006472	0.015152	0.001359	0.014563	0.000000	0.008621	0.006098	0.007576	0.05	2441.43	260	chr6	29944565	.	G	A	2441.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.736;DP=1702;ExcessHet=0;FS=2.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=-1.557;QD=17.19;ReadPosRankSum=-1.234;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:65,0:65:99:.:.:0,120,1800:.	9	0	1	0
chr6	30112534	30112534	T	C	exonic	TRIM31	.	nonsynonymous SNV	TRIM31:NM_007028:exon2:c.A272G:p.K91R	.	.	.	.	.	.	.	.	.	.	.	3336904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.00231397836985	0.0001	.	2.58e-05	0	0	0.0001	0	1.578e-05	0	6.149e-05	2.59e-05	4	154602	rs111260969	3.286e-05	3.283e-05	2.588e-05	3.991e-05	0.0004	2.545e-05	2.25e-05	0.0003	0.0002	0.0004	0	0	5.038e-05	0	0.0003	7.194e-06	0.0002	8.115e-05	1.97e-05	1.97e-05	1.284e-05	2.689e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.093	0.31532	T	0.124	0.35455	T	0.996	0.68779	D	0.937	0.67262	D	0.232017	0.15900	N	0.463335	1	0.08975	N	1.175	0.29870	L	0.96	0.42888	T	-0.38	0.13418	N	0.065	0.03726	-1.0551	0.13013	T	0.060	0.25163	T	10	0.13748047	0.26151	T	0.002314	0.04452	T	0.026	0.05648	.	.	0.486993258117	0.48330	0.018621151488181987	0.01816	0.225144669381	0.25054	0.288397073746	0.08689	T	0.001253	0.00742	T	-0.519746	0.00441	T	-0.692207	0.06262	T	0.355045288801193	0.27216	T	.	.	.	0.034623206	0.03922	0.052264173	0.08575	0.034623206	0.03921	0.052264173	0.08574	-4.47	0.30494	T	.	.	0.094	0.14339	B	.	.	1.076697	0.14596	11.16	0.98313281859511081	0.40164	0.02079	0.06185	N	AEFGBI	0.063208	0.12200	N	-0.513523141100999	0.21643	1.150042	-0.739169585112855	0.15989	0.843662	0.999320293829807	0.39149	0.446893	0.09132	0	0.475579	0.06741	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.43	0.953	0.18714	-1.461000	0.02472	.	.	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.2367:0.0:0.7633	6.152	0.19537	846	0.36215	B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000545	0.000000	0.000000	0.005319	0.000000	0.000000	0.000000	0.000000	0.05	1719.43	94	chr6	30112534	.	T	C	1719.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.65;DP=649;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=1.48;SOR=0.657	GT:AD:DP:GQ:PL	0/1:93,83:176:99:1731,0,2176	9	0	1	0
chr6	30137212	30137212	C	A	exonic	TRIM40	.	nonsynonymous SNV	TRIM40:NM_138700:exon1:c.C176A:p.P59H,TRIM40:NM_001286633:exon2:c.C176A:p.P59H	.	414	1056	48	4	0	56	0.0258303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	.	0.0084	0.0091853	0.0078	0.0127	0.0078	0.0008	0.0006	0.0072	0.0080	0.0139	0.0074385	1150	154602	rs113286964	0.0068	0.0068	0.0066	0.0071	0.0442	0.0067	0.0067	0.0398	0.0380	0.0157	0.0092	0.0321	0.0005	0.0005	0.0442	0.0055	0.0095	0.0139	0.0087	0.0087	0.0089	0.0084	0.0127	0.0083	0.0081	0.0118	0.0114	0.0127	0	0.0125	0.0294	0.0015	0.0002	0.0272	0.0058	0.0156	0.0110	0.008	0.58626	D	0.012	0.63918	D	0.998	0.73220	D	0.879	0.62418	P	0.008778	0.30676	N	0.153445	0.826059	0.28821	N	2.33	0.66821	M	-0.37	0.68892	T	-4.5	0.86836	D	0.373	0.54584	-0.6586	0.62337	T	0.298	0.66896	T	10	0.008277625	0.00188	T	.	.	.	0.278	0.59497	.	.	0.830862327854	0.82926	0.26994882380630675	0.26907	0.397623300563	0.40847	0.397951006889	0.24783	T	0.026128	0.19398	T	-0.334634	0.05769	T	-0.241131	0.50688	T	0.0232735893105862	0.01056	T	.	.	.	0.10806135	0.25552	0.22598116	0.47561	0.10806135	0.25551	0.22598116	0.47560	-7.431	0.58262	T	.	.	0.187	0.41310	B	.;.;.	.;.;.	3.879740	0.56379	23.7	0.99646130465205418	0.77005	0.81979	0.41280	D	AEFDGBHCI	0.257681	0.37636	N	0.471897669294191	0.65455	4.824772	0.421122842855861	0.62885	4.511504	0.999789919792406	0.43007	0.446893	0.09132	0	0.563428	0.19063	0	0.48864	0.07692	0	0.530356	0.10902	0	.	.	4.69	3.8	0.42887	1.351000	0.33626	.	.	0.526000	0.24426	0.563000	0.27449	0.998000	0.33993	0.222000	0.22517	0.0:0.895:0.0:0.105	8.887	0.34571	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029956	0.030303	0.046196	0.031915	0.000000	0.017241	0.012195	0.015152	0.05	1357.43	42	chr6	30137212	.	C	A	1357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.932;DP=459;ExcessHet=0;FS=2.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.574;SOR=0.466	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1369,0,1485	9	0	1	0
chr6	30340549	30340549	A	G	exonic	TRIM39;TRIM39-RPP21	.	nonsynonymous SNV	TRIM39-RPP21:NM_001199119:exon5:c.A848G:p.E283G,TRIM39:NM_001369521:exon7:c.A848G:p.E283G,TRIM39:NM_001369522:exon7:c.A848G:p.E283G,TRIM39:NM_172016:exon7:c.A848G:p.E283G,TRIM39:NM_001369523:exon8:c.A848G:p.E283G,TRIM39:NM_021253:exon8:c.A938G:p.E313G	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0006	0.0115815	0.0065	0.0020	0.0005	0.0106	0	0.0003	0.0046	0.0380	0.0056274	870	154602	rs61758102	0.0030	0.0030	0.0018	0.0042	0.0407	0.0029	0.0029	0.0396	0.0391	0.0015	0.0006	0.0004	0.0060	0	0.0036	0.0002	0.0054	0.0407	0.0025	0.0025	0.0016	0.0036	0.0590	0.0023	0.0022	0.0534	0.0512	0.0010	0	0.0001	0.0006	0.0060	0	0	0.0003	0.0014	0.0590	0.031	0.45039	D	0.28	0.37173	T	0.373	0.34173	B	0.179	0.35808	B	0.006413	0.32054	N	0.260847	0.962912	0.38318	D	1.1	0.28011	L	0.0	0.62608	T	-3.28	0.68764	D	0.136	0.28732	-0.8770	0.49997	T	0.135	0.44875	T	10	0.0029112995	0.00047	T	.	.	.	0.058	0.16647	.	.	0.259504319725	0.25562	0.6511736240182044	0.65053	0.137210899291	0.15472	.	.	.	0.097204	0.39979	T	-0.359508	0.04157	T	-0.263422	0.48482	T	0.0260405041037394	0.01412	T	.	.	.	0.0684415	0.14910	0.121030994	0.29205	0.0684415	0.14910	0.121030994	0.29204	-5.635	0.48197	T	.	.	0.219	0.57775	B	.;.;.;.;.;.	.;.;.;.;.;.	3.711685	0.52989	23.3	0.99889453305637876	0.96359	0.83468	0.42583	D	AEFBHCI	0.456240	0.50819	N	0.149963396011878	0.48810	3.088757	0.311801805080077	0.56232	3.786317	0.999999999360383	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.015000	0.49286	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.214	0.59270	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005447	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.030303	0.05	934.43	34	chr6	30340549	.	A	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.225;DP=391;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.588;SOR=0.852	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr6	30345181	30345181	C	T	exonic	RPP21	.	nonsynonymous SNV	RPP21:NM_001199120:exon1:c.C10T:p.P4S,RPP21:NM_001199121:exon1:c.C10T:p.P4S,RPP21:NM_024839:exon1:c.C10T:p.P4S	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0022	0.00259585	0.0050	0.0005	0.0036	0	0	0.0109	0.0051	0.0012	0.002335	361	154602	rs199499005	0.0040	0.0040	0.0040	0.0040	0.0047	0.0039	0.0039	0.0046	0.0046	0.0005	0.0013	0.0017	7.874e-05	0.0020	0.0032	0.0047	0.0034	0.0009	0.0033	0.0033	0.0033	0.0033	0.0059	0.0030	0.0029	0.0054	0.0052	0.0008	0.0011	0.0018	0.0037	0.0004	0.0014	0	0.0059	0.0043	0.0002	0.292	0.14894	T	0.718	0.12211	T	0.001	0.32258	B	0.001	0.29521	B	0.174256	0.17284	N	0.593369	1	0.08975	N	0.345	0.11182	N	1.63	0.42122	T	0.13	0.05810	N	0.143	0.14338	-1.0570	0.12517	T	0.039	0.16806	T	9	0.0025723875	0.00039	T	.	.	.	0.035	0.08770	.	.	0.44389696681	0.44012	0.14411592754265556	0.14334	0.581702386416	0.53958	.	.	.	0.003112	0.02515	T	-0.596185	0.00154	T	-0.627097	0.10635	T	0.00811904651643408	0.00097	T	.	.	.	0.06651009	0.14318	0.055206638	0.09640	0.06651009	0.14318	0.055206638	0.09639	-3.622	0.18176	T	.	.	0.095	0.14797	B	.;.;.;.	.;.;.;.	1.666143	0.21242	15.11	0.93292219621810935	0.23001	0.11513	0.16684	N	ALL	0.082519	0.16710	N	-0.632361216258299	0.17978	0.9296976	-0.602782413504987	0.19421	1.041912	0.999999999999982	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	5.73	3.96	0.45097	2.165000	0.42023	.	.	-0.172000	0.11096	0.172000	0.23960	0.402000	0.24716	0.770000	0.36519	0.0:0.8296:0.0:0.1704	8.938	0.34874	840	0.37365	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006111	0.000000	0.001377	0.016667	0.000000	0.009091	0.006289	0.015267	0.05	585.43	40	chr6	30345181	.	C	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.965;DP=332;ExcessHet=0;FS=1.9;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=-1.173;SOR=0.393	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	9	0	1	0
chr6	30586216	30586216	C	T	exonic	ABCF1	.	nonsynonymous SNV	ABCF1:NM_001090:exon17:c.C1682T:p.P561L,ABCF1:NM_001025091:exon18:c.C1796T:p.P599L	.	428	1093	1	0	0	1	0.000457247	.	.	.	710390	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0085	0.00998403	0.0025	0.0276	0.0009	0	0	1.509e-05	0	0.0001	0.0024191	374	154602	rs115337170	0.0008	0.0008	0.0009	0.0006	0.0281	0.0007	0.0007	0.0266	0.0260	0.0281	0.0011	0	0	0	0.0007	2.338e-05	0.0013	8.115e-05	0.0073	0.0073	0.0074	0.0071	0.0255	0.0069	0.0068	0.0242	0.0237	0.0255	0	0.0024	0	0	0	0	5.881e-05	0.0038	0	0.041	0.41915	D	0.224	0.28575	T	0.06	0.23119	B	0.065	0.27321	B	0.029676	0.25420	N	0.442983	0.999915	0.81001	D	1.32	0.33002	L	0.54	0.54911	T	-2.32	0.51478	N	0.349	0.42050	-1.0675	0.09971	T	0.066	0.27295	T	10	0.0077928603	0.00177	T	.	.	.	0.050	0.13987	.	.	0.781959415027	0.77994	0.24412009190347728	0.24326	0.786526509443	0.65546	0.576090455055	0.49535	T	0.086251	0.37683	T	-0.476963	0.00771	T	-0.437628	0.29075	T	0.0229580308832179	0.01019	T	.	.	.	0.07815728	0.17780	0.09583079	0.22744	0.07815728	0.17780	0.09583079	0.22744	-8.368	0.63552	D	.	.	0.103	0.18580	B	.;.	.;.	4.032610	0.59644	24.1	0.997374645234261	0.83264	0.92668	0.56256	D	AEFBI	0.292895	0.40365	N	-0.0903685184820714	0.37814	2.205466	0.0616880139790793	0.42641	2.582676	0.974446816048452	0.29543	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	3.016000	0.49294	.	.	0.599000	0.40250	0.652000	0.28189	1.000000	0.68203	0.996000	0.76049	0.0:0.909:0.0:0.091	10.396	0.43382	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	1752.14	35	chr6	30586216	.	C	T	1752.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.92;DP=455;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.455;SOR=0.693	GT:AD:DP:GQ:PL	0/1:39,36:75:99:814,0,757	8	0	2	0
chr6	30602902	30602910	GGACCCCCT	-	exonic	PPP1R10	.	nonframeshift deletion	PPP1R10:NM_001376195:exon18:c.1893_1901del:p.G635_P637del,PPP1R10:NM_002714:exon18:c.1893_1901del:p.G635_P637del	.	322	1177	23	0	0	23	0.00967606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.00758786	0.0072	0.0114	0.0194	0.0013	0	0.0106	0.0140	0.0012	0.0018057	47	26028	rs567936494	0.0073	0.0073	0.0074	0.0072	0.0265	0.0072	0.0072	0.0230	0.0217	0.0088	0.0103	0.0095	0	0.0008	0.0265	0.0079	0.0096	0.0015	0.0092	0.0092	0.0099	0.0084	0.0118	0.0088	0.0086	0.0109	0.0106	0.0118	0.0011	0.0112	0.0092	0	0.0005	0.0340	0.0095	0.0161	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	955.39	36	chr6	30602901	.	AGGACCCCCT	A	955.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=-0.849;SOR=0.64	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1143	9	0	1	0
chr6	30677273	30677273	C	T	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon3:c.G1838A:p.R613Q,PPP1R18:NM_001134870:exon4:c.G1838A:p.R613Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	710392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0080	0.00958466	0.0021	0.0270	0.0009	0	0	3.163e-05	0	0.0001	0.0020763	321	154602	rs74802004	0.0008	0.0008	0.0009	0.0006	0.0277	0.0007	0.0007	0.0262	0.0256	0.0277	0.0012	0	0	0	0.0007	5.324e-05	0.0013	0.0001	0.0072	0.0072	0.0073	0.0071	0.0252	0.0069	0.0067	0.0240	0.0235	0.0252	0	0.0025	0	0	0	0	5.884e-05	0.0038	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000840	0.41547	D	0.095007	0.61772	0.32677	D	0.975	0.24501	L	1.08	0.39401	T	-0.99	0.26200	N	0.395	0.59308	-0.9250	0.44858	T	0.111	0.39864	T	10	0.0069939196	0.00159	T	.	.	.	0.101	0.28911	.	.	0.574877809555	0.57156	0.2909268052166772	0.29005	1.43599143894	0.85891	0.688641548157	0.65511	T	0.008228	0.07566	T	-0.467503	0.00881	T	-0.42404	0.30613	T	0.0854999207262403	0.10675	T	0.873313	0.58144	D	0.120588824	0.28372	0.11121444	0.26824	0.120588824	0.28372	0.11121444	0.26823	-4.233	0.27226	T	.	.	0.531	0.67034	A	.;.;.;.	.;.;.;.	5.364411	0.89950	31	0.99946952941574518	0.99913	0.97480	0.75020	D	AEFBI	0.627867	0.61017	D	0.523348873466614	0.68475	5.222147	0.530455199908956	0.70049	5.448407	0.999992412203373	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	3.714000	0.54618	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.047	0.58340	862	0.33134	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.008772	0.000000	0.000000	0.1	1353.14	34	chr6	30677273	.	C	T	1353.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.43;DP=392;ExcessHet=0.2348;FS=1.457;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.052;SOR=0.846	GT:AD:DP:GQ:PL	0/1:31,21:52:99:506,0,711	8	0	2	0
chr6	30730467	30730467	C	A	exonic	FLOT1	.	nonsynonymous SNV	FLOT1:NM_001318875:exon10:c.G906T:p.E302D,FLOT1:NM_005803:exon11:c.G1050T:p.E350D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00272033828316	.	0.000399361	0.0002	0	0	0	0	1.542e-05	0	0.0013	0.0001423	22	154602	rs530314265	7.172e-05	7.524e-05	3.696e-05	0.0001	0.0011	6.028e-05	5.633e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	0.0001	0.0011	3.938e-05	3.937e-05	5.138e-05	2.684e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	1.0	0.00964	T	0.636	0.07059	T	0.0	0.02946	B	0.002	0.06944	B	0.000007	0.62929	D	0.107189	0.998048	0.44449	D	0.615	0.15706	N	1.92	0.23082	T	0.4	0.03463	N	0.253	0.28616	-0.9389	0.42790	T	0.007	0.02558	T	10	0.0068410933	0.00155	T	0.00272	0.05608	T	0.143	0.38195	0.304	0.27325	0.242244723065	0.23846	0.5902072025650039	0.58950	0.135862692089	0.15322	0.464224547148	0.33889	T	0.111673	0.42735	T	-0.60304	0.00140	T	-0.69535	0.06083	T	0.0576298609375954	0.06791	T	.	.	.	0.1898284	0.40542	0.26664233	0.52512	0.1898284	0.40542	0.26664233	0.52511	-3.824	0.21164	T	.	.	0.092	0.13597	B	.	.	1.893469	0.24047	16.25	0.34485208847217164	0.02112	0.22662	0.21822	N	AEFDBCI	0.122106	0.23709	N	-0.783718883233384	0.13734	0.6787431	-0.607067134887485	0.19311	1.035517	0.999757456812881	0.42595	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.68	2.89	0.32713	-1.108000	0.03423	.	.	0.599000	0.40250	0.006000	0.17386	0.887000	0.27779	0.987000	0.62547	0.1965:0.6033:0.0:0.2002	3.703	0.07920	889	0.27310	Flotillin, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1070.43	33	chr6	30730467	.	C	A	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=361;ExcessHet=0;FS=2.562;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=1.03;SOR=1.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1342:.	9	0	1	0
chr6	30730471	30730471	T	A	exonic	FLOT1	.	nonsynonymous SNV	FLOT1:NM_001318875:exon10:c.A902T:p.Q301L,FLOT1:NM_005803:exon11:c.A1046T:p.Q349L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0104894847517	.	0.000399361	0.0001	0	0	0	0	0	0	0.0013	0.0001229	19	154602	rs546831217	7.095e-05	7.251e-05	3.693e-05	0.0001	0.0011	5.954e-05	5.561e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	0.0001	0.0011	3.938e-05	3.937e-05	5.139e-05	2.684e-05	0.0012	1.714e-05	1.128e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.008	0.58626	D	0.143	0.33219	T	0.462	0.36386	P	0.199	0.36804	B	0.000001	0.62929	D	0.056648	0.998779	0.45423	D	1.65	0.42232	L	1.88	0.23884	T	-3.56	0.68880	D	0.455	0.49237	-1.0612	0.11459	T	0.052	0.21999	T	10	0.04647672	0.03843	T	0.010489	0.27088	T	0.117	0.32689	0.373	0.38503	0.500488203797	0.49686	0.7600854029981691	0.75956	0.178225233787	0.20055	0.365280270576	0.20152	T	0.539357	0.84199	D	-0.392028	0.02610	T	-0.392246	0.34289	T	0.245464527468686	0.22668	T	.	.	.	0.61035323	0.73247	0.40333706	0.64791	0.61035323	0.73248	0.40333706	0.64791	-11.567	0.82678	D	.	.	0.291	0.52260	B	.	.	3.890007	0.56592	23.8	0.99135012380746901	0.53356	0.77683	0.38224	D	AEFDBCI	0.402224	0.47640	N	0.204672702499383	0.51425	3.323858	0.259394886993974	0.53186	3.488769	0.999999723637231	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.68	4.68	0.58319	1.464000	0.34898	.	.	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	12.400	0.54740	889	0.27310	Flotillin, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1064.43	33	chr6	30730471	.	T	A	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=369;ExcessHet=0;FS=2.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=1.63;SOR=1.244	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1342:.	9	0	1	0
chr6	30744440	30744440	G	A	exonic	IER3	.	nonsynonymous SNV	IER3:NM_003897:exon1:c.C79T:p.P27S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00680056739629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.45393	D	0.263	0.22828	T	0.403	0.34918	B	0.12	0.32230	B	0.525251	0.11697	N	0.774714	0.998794	0.21902	N	1.265	0.31966	L	0.97	0.42502	T	-3.89	0.72820	D	0.059	0.04188	-1.0702	0.09370	T	0.043	0.18701	T	10	0.11837813	0.22378	T	0.006801	0.17982	T	0.036	0.09122	0.207	0.12356	0.239312915715	0.23560	0.2789742496252833	0.27810	0.95220496257	0.72685	0.389601141214	0.23614	T	0.069527	0.45773	T	-0.245601	0.14642	T	-0.590566	0.13616	T	0.31561067700386	0.25643	T	0.757524	0.38090	T	0.056013778	0.10965	0.085588396	0.19771	0.056013778	0.10964	0.085588396	0.19770	-3.327	0.14087	T	.	.	0.173	0.37951	B	.;.	.;.	2.117870	0.26958	17.30	0.99883500412784387	0.95892	0.82965	0.42126	D	ALL	0.174255	0.30137	N	-0.20283686406666	0.33017	1.868544	-0.139942782481341	0.33797	1.937141	0.999999999999999	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.56214	0.19341	0	.	.	5.04	3.09	0.34677	0.668000	0.24808	.	.	0.676000	0.76740	0.512000	0.27048	0.999000	0.35428	0.754000	0.35928	0.0:0.3683:0.6317:0.0	10.959	0.46589	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	526.43	38	chr6	30744440	.	G	A	526.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.181;DP=338;ExcessHet=0;FS=3.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=-1.218;SOR=0.223	GT:AD:DP:GQ:PL	0/1:7,20:27:99:538,0,139	9	0	1	0
chr6	30913375	30913375	C	T	exonic	GTF2H4	.	nonsynonymous SNV	GTF2H4:NM_001517:exon13:c.C1204T:p.R402W	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.006855566819	.	0.000599042	0.0002	0	0	0	0	4.756e-05	0	0.0015	0.000207	32	154602	rs528361904	0.0001	0.0001	8.991e-05	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	2.236e-05	0	0	1.909e-05	0.0009	4.946e-05	8.281e-05	0.0014	7.878e-05	7.874e-05	7.708e-05	8.056e-05	0.0010	4.493e-05	3.509e-05	0.0004	0.0003	9.623e-05	0	6.536e-05	0	0	0	0	2.94e-05	0	0.0010	0.024	0.47745	D	0.076	0.42614	T	0.016	0.17332	B	0.004	0.10090	B	0.000877	0.41335	U	0.164730	0.997692	0.44107	D	1.07	0.27075	L	0.89	0.45636	T	-3.25	0.65283	D	0.366	0.40765	-1.0702	0.09370	T	0.052	0.21921	T	10	0.028735071	0.01003	T	0.006856	0.18121	T	0.048	0.13305	0.366	0.37361	0.556850889111	0.55344	0.5042115403857756	0.50343	0.285748859338	0.30983	0.581791400909	0.50337	T	0.315665	0.68725	T	-0.403995	0.02180	T	-0.388465	0.34731	T	0.123413255602033	0.14760	T	0.952205	0.81731	D	0.54549605	0.69704	0.30760264	0.56782	0.54549605	0.69705	0.30760264	0.56781	-11.111	0.80263	D	.	.	0.178	0.40147	B	.;.	.;.	5.314047	0.89205	29.9	0.9934435895736009	0.60331	0.90441	0.51619	D	AEFDBCI	0.722597	0.67248	D	0.0594710040436483	0.44579	2.729391	0.242155204170873	0.52204	3.396845	0.999999974229877	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	4.86	0.62624	4.424000	0.59617	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.9155:0.0:0.0845	11.768	0.51215	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1104.43	37	chr6	30913375	.	C	T	1104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=430;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-0.917;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1042	9	0	1	0
chr6	30925277	30925277	C	T	exonic	VARS2	.	nonsynonymous SNV	VARS2:NM_001167733:exon26:c.C2257T:p.H753Y,VARS2:NM_001167734:exon27:c.C2767T:p.H923Y,VARS2:NM_020442:exon27:c.C2677T:p.H893Y	Combined oxidative phosphorylation deficiency 20, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	1881090	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0123608704072	0.0007	0.000399361	0.0002	0	0.0003	0	0	0.0004	0	0	0.0001488	23	154602	rs150792425	7.749e-05	7.798e-05	6.958e-05	8.549e-05	0.0009	6.549e-05	6.151e-05	0.0004	0.0003	0	0.0005	0	0	0	0.0009	6.751e-05	0.0001	0	7.878e-05	7.874e-05	7.708e-05	8.056e-05	0.0003	4.493e-05	3.509e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	0.0001	0	0	0.041	0.45039	D	0.07	0.50809	T	0.199	0.29618	B	0.232	0.38314	B	0.038371	0.24293	N	0.447307	0.766453	0.29483	N	2.74	0.80084	M	2.57	0.13552	T	-0.99	0.26200	N	0.387	0.43899	-1.0473	0.15159	T	0.019	0.08033	T	10	0.057209253	0.06534	T	0.012361	0.30863	T	0.042	0.11227	.	.	0.242244723065	0.23846	0.5352440157074623	0.53449	0.917984465243	0.71321	0.542132198811	0.44747	T	0.002286	0.01681	T	-0.460811	0.00972	T	-0.559151	0.16457	T	0.0980743132191901	0.12144	T	0.782722	0.41876	T	0.11463918	0.27061	0.23695691	0.48981	0.120538324	0.28361	0.29476264	0.55506	-8.564	0.65202	D	.	.	0.086	0.21315	B	.;.;.	.;.;.	2.473183	0.31879	18.87	0.98850443854143677	0.47288	0.82825	0.42001	D	AEFDBI	0.203974	0.33044	N	-0.192616146731012	0.33441	1.897256	-0.0937654399513659	0.35647	2.06486	0.998083950642777	0.36406	0.744818	0.98587	0	0.653731	0.59785	0	0.732433	0.93434	0	0.635551	0.53088	0	.	.	5.4	3.6	0.40374	1.045000	0.29951	.	.	-0.202000	0.08738	0.276000	0.25103	1.000000	0.68203	0.766000	0.36367	0.0:0.8038:0.0:0.1962	7.777	0.28205	917	0.20147	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	946.43	34	chr6	30925277	.	C	T	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.659;DP=417;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.071;SOR=0.558	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	9	0	1	0
chr6	30949584	30949640	ACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	-	exonic	MUCL3	.	nonframeshift deletion	MUCL3:NM_080870:exon2:c.1120_1176del:p.A388_T406del	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.875e-05	0	0	0	0	0.0002	0	0	.	.	.	.	0.0031	0.0031	0.0031	0.0031	0.0359	0.0030	0.0030	0.0342	0.0336	0.0026	0.0051	0.0046	0.0359	0.0004	0.0109	0.0021	0.0042	0.0006	0.0041	0.0053	0.0043	0.0039	0.0063	0.0039	0.0037	0.0046	0.0042	0.0044	0.0011	0.0055	0.0058	0.0063	0.0010	0.0036	0.0040	0.0076	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3741.39	456	chr6	30949583	.	CACACCATCCCCAGCAGAGCCTACAGAACATGGAGAAAGGACAGCCAATGAGAACACT	C	3741.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.05;DP=3691;ExcessHet=0;FS=8.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.74;MQRankSum=-2.479;QD=10.84;ReadPosRankSum=-1.033;SOR=0.634	GT:AD:DP:GQ:PL	0/0:342,0:342:99:0,120,1800	9	0	1	0
chr6	30949980	30949980	C	T	exonic	MUCL3	.	nonsynonymous SNV	MUCL3:NM_080870:exon2:c.C1516T:p.P506S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0104016219111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.716e-06	5.473e-06	7.049e-06	4.346e-06	9.499e-05	2.46e-06	1.78e-06	2.517e-05	1.297e-05	9.499e-05	0	0	0	0	0	4.634e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987	0.02382	T	0.002	0.09854	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	.	.	.	0.52	0.55266	T	-0.62	0.18248	N	0.078	0.05287	-1.0065	0.28004	T	0.034	0.14639	T	9	0.045794934	0.03692	T	0.010402	0.26893	T	0.043	0.11576	0.096	0.01287	0.119812018005	0.11559	0.11788362170384438	0.11715	0.51714929334	0.49591	0.167696684599	0.00024	T	0.013869	0.11911	T	-0.344515	0.05082	T	-0.732648	0.04209	T	0.0248842166205285	0.01257	T	0.458254	0.13193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.40015	B	.;.	.;.	-0.479215	0.01934	0.164	0.51329835975371008	0.04543	0.00308	0.01632	N	AEFBI	0.017240	0.00439	N	-1.51434915942037	0.01755	0.07685248	-1.66368560213484	0.01307	0.05895707	0.969764647078665	0.29154	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	1.95	-3.9	0.03904	-0.753000	0.04897	.	.	-0.580000	0.04711	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2247:0.1917:0.4107:0.1729	1.600	0.02511	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4011.43	456	chr6	30949980	.	C	T	4011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.042;DP=3264;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=-0.151;QD=10.81;ReadPosRankSum=-0.71;SOR=0.692	GT:AD:DP:GQ:PL	0/1:200,171:371:99:4023,0,5382	9	0	1	0
chr6	30986961	30986961	-	ACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA	exonic	MUC21	.	nonframeshift insertion	MUC21:NM_001010909:exon2:c.786_787insACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA:p.A267_G268insSTATNSESSTTSSGASTATNSDSSTTSSGA,MUC21:NM_001322371:exon3:c.786_787insACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA:p.S273_D274insESSTTSSGASTATNSDSSTTSSGASTATNS,MUC21:NM_001322370:exon4:c.786_787insACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA:p.D274_P567delinsESSTTSSGASTATNSDSSTTSSGASTATNSDSSTVSSGASTATNSESSTTSSGASTATNSESSTTSSGASTATNSDSSTTSSGAGTATNSESSTVSSGISTVTNSESSTPSSGANTATNSESSTTSSGANTATNSESSTVSSGASTATNSESSTTSSGVSTATNSESSTTSSGASTATNSDSSTTSSEASTATNSESSTVSSGISTVTNSESSTTSSGANTATNSGSSVTSAGSGTAALTGMHTTSHSASTAVSEAKPGGSLVPWEIFLITLVSVVAAVGLFAGLFFCVRNSLSLRNTFNTAVYHPHGLNHGLGPGPGGNHGAPHRPRWSPNWFWRRPVSSIAMEMSGRNSGP*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0011	0.0002	0.0003	0.0021	0.0002	0.0002	0.0017	0.0015	0.0002	0.0003	0.0015	0.0021	0.0004	0	0.0001	0.0004	0.0001	4.59e-05	6.34e-05	5.984e-05	3.132e-05	6.031e-05	1.219e-05	6.38e-06	9.99e-06	3.74e-06	0	0	0	0	0	0.0003	0	6.031e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5710.39	409	chr6	30986961	.	G	GACCTCCAGTGGGGCCAGCACAGCCACCAACTCTGAGTCCAGCACGACCTCCAGTGGGGCTAGCACAGCCACCAACTCTGACTCCAGCACA	5710.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.67;DP=3922;ExcessHet=0;FS=1.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.04;MQRankSum=-4.812;QD=19.36;ReadPosRankSum=-15.44;SOR=0.592	GT:AD:DP:GQ:PL	0/0:352,0:352:99:0,120,1800	9	0	1	0
chr6	31025754	31025754	C	G	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.C323G:p.T108S,MUC22:NM_001318484:exon3:c.C332G:p.T111S,MUC22:NM_001322469:exon3:c.C332G:p.T111S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00937838156048	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs564563449	2.541e-05	2.539e-05	2.58e-05	2.501e-05	0.0007	1.845e-05	1.633e-05	0.0003	0.0002	0.0005	2.814e-05	0	0	0	0.0007	2.794e-06	0.0001	5.065e-05	1.971e-05	1.969e-05	3.856e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.409e-05	0	0	0	0	0	0	0	0.0005	0.0002	0.0	0.91255	D	0.127	0.35082	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.61	0.13095	T	-0.58	0.17417	N	0.036	0.01068	.	.	.	.	.	.	.	0.042425305	0.02990	T	0.009378	0.24600	T	.	.	.	.	0.180583059064	0.17676	0.010325232448864775	0.00993	.	.	0.172717779875	0.00044	T	0.005563	0.05012	T	-0.46297	0.00942	T	-0.708492	0.05373	T	.	.	.	0.444056	0.12368	T	0.06790281	0.14747	0.06764038	0.14021	0.06790281	0.14747	0.06764038	0.14021	-6.018	0.46431	T	.	.	0.108	0.20274	B	.	.	-0.301168	0.02613	0.326	0.25825568868026616	0.01209	0.05487	0.11371	N	AEFBI	0.019563	0.00691	N	.	.	.	.	.	.	0.027637842681393	0.13784	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.18	1.18	0.20058	0.088000	0.14821	.	.	-0.992000	0.01845	0.000000	0.06391	0.006000	0.19429	0.000000	0.00833	0.0:1.0:0.0:0.0	5.590	0.16579	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3494.43	362	chr6	31025754	.	C	G	3494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=3208;ExcessHet=0;FS=3.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.679;SOR=0.866	GT:AD:DP:GQ:PL	0/1:169,142:311:99:3506,0,4172	9	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	6052.9	520	chr6	31026275	.	A	*	6052.9	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.832;DP=4129;ExcessHet=0.0405;FS=2.444;InbreedingCoeff=0.375;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=5.13;ReadPosRankSum=0.308;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:386,0:386:99:.:.:0,120,1800:.	8	1	1	0
chr6	31028378	31028407	GAGACCACCACAGCCTCTACTGAAGGCTCC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.2947_2976del:p.T996_T1005del,MUC22:NM_001318484:exon3:c.2956_2985del:p.T999_T1008del,MUC22:NM_001322469:exon3:c.2956_2985del:p.T999_G1777delinsSASTTGSETTTASTTSSETTMASIMGSETTMASTIGSETTKVSTASSKMTTVFTENSETTIASTTASETTTVSTAGSETIPASTAGSETTTTTSTEGSETTTASTEGSETTTASTESSETTTATTIGSETTTASTEGSETTTTSTEGSETTTASTEGSEITTVSTTGSETTTASTEGSETTTASTEGSELTTVSTTGSETITVSAEGSETTTVTTMGSETTTASTAGSETTTVSTAGSETTTASIEGSETTTVSSTGSETTTVSTTGTETTITSTEGSETTTVTTAGSETTAVYTTGSETTTTSTEGSETTTVSTTGSETTTASTADLETTTVSTSGSGTTTASTAGSETTTVYITGSKTTTASTEGSEATTVSTTSSETTTASTTGSEMTTVFTTVSETTTVSTIGSEATTSSAAGSEATTTSTEGSETTTASTAGSETTTASTAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	421	1076	24	0	1	25	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0106	0.0217	0.0746	.	0	0	0.0197	0.0001153	3	26028	rs200838925	0.0052	0.0050	0.0041	0.0062	0.0383	0.0051	0.0050	0.0371	0.0367	0.0188	0.0020	0.0004	0.0362	0.0027	0.0141	0.0014	0.0075	0.0383	0.0091	0.0098	0.0082	0.0100	0.0543	0.0087	0.0085	0.0490	0.0470	0.0173	0.0044	0.0036	0	0.0543	0.0018	0.0141	0.0018	0.0086	0.0348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	23834.4	701	chr6	31028377	.	TGAGACCACCACAGCCTCTACTGAAGGCTCC	T	23834.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.988;DP=5966;ExcessHet=0.7463;FS=0.53;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.87;MQRankSum=0.834;QD=12.31;ReadPosRankSum=1.35;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:421,0:421:99:.:.:0,120,1800:.	7	0	3	0
chr6	31029723	31029723	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4292_4293insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST,MUC22:NM_001318484:exon3:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1463_S1464insAGSETTTASTAGSETTTAST,MUC22:NM_001322469:exon4:c.4301_4302insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.S1474_G1777delinsAGSETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0039	0.0019	0.0019	0.0048	0.0018	0.0018	0.0035	0.0033	0.0009	0.0031	0.0051	0.0041	0.0091	0.0048	0.0016	0.0028	0.0011	0.0002	0.0025	0.0002	0.0001	0.0009	0.0001	8.245e-05	0.0002	6.649e-05	0	0	0.0001	0.0006	0.0003	0.0005	0	0.0002	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	7344.32	591	chr6	31029723	.	A	AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	7344.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.739;DP=5741;ExcessHet=0.2348;FS=3.207;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.47;MQRankSum=-0.522;QD=10.93;ReadPosRankSum=-8.751;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:421,0:421:99:.:.:0,120,1800:.	8	0	1	1
chr6	31029811	31029811	-	GCAGGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4380_4381insGCAGGC:p.T1460_S1461insAG,MUC22:NM_001318484:exon3:c.4389_4390insGCAGGC:p.T1463_S1464insAG,MUC22:NM_001322469:exon4:c.4389_4390insGCAGGC:p.S1466_G1777delinsAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28994679	0.0017	0.0017	0.0015	0.0019	0.0071	0.0016	0.0016	0.0053	0.0046	0.0004	0.0019	0.0047	0.0004	0.0061	0.0071	0.0013	0.0023	0.0048	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0006	0.0005	0.0002	0.0014	0.0005	0.0015	0.0002	0.0008	0	0.0008	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	17752.2	624	chr6	31029811	.	T	TGCAGGC	17752.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.743;DP=6298;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.33;MQRankSum=3.96;QD=9.61;ReadPosRankSum=-2.884;SOR=0.707	GT:AD:DP:GQ:PL	0/0:421,0:421:99:0,120,1800	8	0	1	1
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	17752.2	624	chr6	31029811	.	T	*	17752.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.743;DP=6298;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.33;MQRankSum=3.96;QD=9.61;ReadPosRankSum=-2.884;SOR=0.707	GT:AD:DP:GQ:PL	0/0:421,0:421:99:0,120,1800	8	0	1	1
chr6	31029812	31029812	-	CTGAGACCACCACAGCCTCCACTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4381_4382insCTGAGACCACCACAGCCTCCACTG:p.S1461_G1462insETTTASTA,MUC22:NM_001318484:exon3:c.4390_4391insCTGAGACCACCACAGCCTCCACTG:p.S1464_G1465insETTTASTA,MUC22:NM_001322469:exon4:c.4390_4391insCTGAGACCACCACAGCCTCCACTG:p.G1465_G1777delinsETTTASTAGSETTTASTSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0015	0.0014	0.0016	0.0071	0.0015	0.0014	0.0052	0.0046	0.0002	0.0014	0.0048	0.0004	0.0062	0.0071	0.0012	0.0021	0.0041	0.0005	0.0005	0.0006	0.0005	0.0013	0.0004	0.0004	0.0005	0.0005	0.0001	0	0.0005	0.0018	0.0002	0.0009	0	0.0007	0.0007	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	20470.0	624	chr6	31029812	.	T	TCTGAGACCACCACAGCCTCCACTG	20470.0	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2;DP=6472;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.063;MQ=59.47;MQRankSum=3.98;QD=7.35;ReadPosRankSum=1.98;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:421,0:421:99:.:.:0,120,1800:.	7	0	1	2
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	20470.0	624	chr6	31029812	.	T	*	20470.0	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2;DP=6472;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.063;MQ=59.47;MQRankSum=3.98;QD=7.35;ReadPosRankSum=1.98;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:421,0:421:99:.:.:0,120,1800:.	7	0	1	2
chr6	31029888	31029888	A	C	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.A4457C:p.N1486T,MUC22:NM_001318484:exon3:c.A4466C:p.N1489T,MUC22:NM_001322469:exon4:c.A4466C:p.N1489T	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0493182997926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1286634783	0.0011	0.0027	0.0010	0.0012	0.0019	0.0011	0.0010	0.0016	0.0014	0.0002	0.0019	0.0013	0.0013	0.0066	0.0011	0.0008	0.0015	0.0017	0.0002	0.0011	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	4.946e-05	0	0.0003	0	0	0.0005	0.0035	0.0002	0	0.0002	0.0	0.91255	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.59	0.13317	T	-0.93	0.24898	N	0.102	0.08506	.	.	.	.	.	.	.	0.067564785	0.09433	T	0.049318	0.63758	D	.	.	.	.	0.104622674875	0.10061	0.010494643714832393	0.01010	.	.	0.190983042121	0.00243	T	0.003743	0.03151	T	-0.3764	0.03282	T	-0.778449	0.02501	T	.	.	.	0.20198	0.02320	T	0.06574603	0.14082	0.062965795	0.12403	0.06574603	0.14081	0.062965795	0.12402	0.373	0.00241	T	.	.	0.080	0.07554	B	.	.	-0.824170	0.01060	0.046	0.86730318380122695	0.16734	0.00047	0.00373	N	AEFBI	0.010283	0.00071	N	.	.	.	.	.	.	8.40779378229408E-4	0.07887	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.69	-1.6	0.07977	-3.914000	0.00378	.	.	-1.177000	0.01391	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3963:0.4665:0.0:0.1372	4.161	0.09748	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	167.43	607	chr6	31029888	.	A	C	167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.565;DP=5364;ExcessHet=0;FS=0.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-6.073;QD=0.23;ReadPosRankSum=-12.67;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:421,0:421:99:.:.:0,120,1800:.	9	0	1	0
chr6	31029890	31029890	A	G	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.A4459G:p.T1487A,MUC22:NM_001318484:exon3:c.A4468G:p.T1490A,MUC22:NM_001322469:exon4:c.A4468G:p.T1490A	.	423	1065	31	3	0	37	0.0170743	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00978435	0.0084	0.0248	0	0	.	0.0116	0.0085	0.0071	0.0014295	221	154602	rs115600609	0.0028	0.0027	0.0027	0.0030	0.0119	0.0028	0.0027	0.0106	0.0102	0.0116	0.0024	0.0145	0.0033	0.0002	0.0119	0.0017	0.0052	0.0094	0.0051	0.0051	0.0050	0.0052	0.0100	0.0048	0.0047	0.0092	0.0089	0.0100	0	0.0033	0.0158	0.0079	0.0003	0.0137	0.0021	0.0052	0.0096	0.0	0.91255	D	0.108	0.37589	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.85	0.10578	T	-0.61	0.18042	N	0.059	0.03069	.	.	.	.	.	.	.	0.004411578	0.00090	T	.	.	.	.	.	.	.	0.232513804876	0.22884	0.03007226240166345	0.02956	.	.	0.162880569696	0.00014	T	0.003446	0.02849	T	-0.607654	0.00131	T	-0.638807	0.09756	T	.	.	.	0.164384	0.01504	T	0.11273164	0.26630	0.11398023	0.27510	0.11273164	0.26629	0.11398023	0.27509	-6.027	0.46505	T	.	.	0.088	0.11558	B	.	.	1.314220	0.17173	13.00	0.74607163199532822	0.10758	0.03926	0.09316	N	AEFBI	0.016450	0.00370	N	.	.	.	.	.	.	0.00445799850102224	0.10566	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.69	1.34	0.21018	0.798000	0.26674	.	.	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7708:0.0:0.0:0.2292	5.999	0.18740	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005102	0.018987	0.009259	0.000000	0.000000	0.035714	0.000000	0.000000	0.05	6183.43	607	chr6	31029890	.	A	G	6183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=5315;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-2.975;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:421,0:421:99:.:.:0,120,1800:.	9	0	1	0
chr6	31116313	31116313	G	T	exonic	CDSN	.	nonsynonymous SNV	CDSN:NM_001264:exon2:c.C1302A:p.S434R	Hypotrichosis 2, Autosomal dominant;Peeling skin syndrome 1, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	710398	not_provided|CDSN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0011	0.000998403	0.0028	9.747e-05	0.0011	0	0.0223	0.0027	0.0034	0.0002	0.002445	378	154602	rs150846158	0.0022	0.0022	0.0022	0.0022	0.0020	0.0021	0.0021	0.0017	0.0017	0.0002	0.0020	3.829e-05	0	0.0173	0.0012	0.0018	0.0018	0.0006	0.0030	0.0030	0.0023	0.0037	0.0024	0.0027	0.0027	0.0021	0.0020	0.0003	0.0011	0.0018	0	0.0002	0.0229	0	0.0024	0.0005	0.0002	0.005	0.63226	D	0.011	0.64786	D	.	.	.	.	.	.	0.292282	0.14746	N	0.573438	1	0.81001	D	.	.	.	3.18	0.07478	T	-3.46	0.67705	D	0.334	0.37509	-0.9901	0.32576	T	0.011	0.04369	T	10	0.0070687234	0.00161	T	.	.	.	0.107	0.30369	0.326	0.30873	0.280181792013	0.27631	0.2104646889606678	0.20962	0.687456490586	0.60386	0.341345727444	0.16640	T	0.081672	0.36652	T	-0.477192	0.00768	T	-0.462221	0.26357	T	0.0607472863872461	0.07285	T	0.731927	0.34732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.65158	A	.	.	3.396617	0.47056	22.4	0.99714549867426672	0.81563	0.57276	0.30334	D	AEFDBI	0.126843	0.24395	N	0.0610725092561053	0.44653	2.735463	0.0182607160661245	0.40562	2.422795	0.999951877079739	0.48110	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.09	1.28	0.20656	0.673000	0.24883	.	.	0.606000	0.46413	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.3559:0.0:0.6441:0.0	5.630	0.16782	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000533	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	1828.43	83	chr6	31116313	.	G	T	1828.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.888;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-1.555;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:68,0:68:99:.:.:0,120,1800:.	9	0	1	0
chr6	31139016	31139016	T	C	exonic	PSORS1C2	.	nonsynonymous SNV	PSORS1C2:NM_014069:exon1:c.A11G:p.N4S	.	424	1067	31	0	0	31	0.0143187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0032	0.00559105	0.0051	0.0008	0.0036	0.0005	0.0011	0.0049	0.0055	0.0138	0.0048835	755	154602	rs148095595	0.0037	0.0037	0.0032	0.0042	0.0224	0.0036	0.0036	0.0192	0.0180	0.0008	0.0052	0.0093	0.0002	0.0006	0.0224	0.0029	0.0044	0.0141	0.0035	0.0035	0.0030	0.0040	0.0145	0.0032	0.0031	0.0118	0.0108	0.0006	0	0.0077	0.0072	0.0006	9.416e-05	0.0204	0.0040	0.0057	0.0145	0.479	0.08261	T	0.091	0.40110	T	0.004	0.12183	B	0.003	0.08700	B	0.857925	0.08916	N	0.910449	0.999996	0.58761	D	0.625	0.15840	N	1.94	0.22678	T	-0.3	0.11913	N	0.046	0.01825	-0.9539	0.40292	T	0.010	0.03582	T	10	0.005170852	0.00112	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.058212489981228153	0.05762	0.265596492825	0.29113	0.285623818636	0.08289	T	0.003909	0.03323	T	-0.715145	0.00030	T	-0.788356	0.02210	T	0.00922209648767378	0.00117	T	0.562444	0.19755	T	0.030201409	0.02641	0.026703754	0.00774	0.030201409	0.02641	0.026703754	0.00774	-2.024	0.03273	T	.	.	0.081	0.08368	B	.	.	0.609226	0.09775	6.543	0.9529271797190062	0.26602	0.11298	0.16541	N	AEFDBCI	0.071048	0.14128	N	-1.10584607114366	0.06538	0.3012569	-1.14182271404028	0.06916	0.3345273	0.99999588345578	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.527494	0.11647	0	0.562822	0.20929	0	.	.	4.68	-5.52	0.02358	-0.717000	0.05088	.	.	0.597000	0.34315	0.434000	0.26440	0.000000	0.08366	0.803000	0.37862	0.0:0.3563:0.2889:0.3548	5.429	0.15744	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020087	0.005051	0.024457	0.015464	0.000000	0.008621	0.024390	0.011364	0.1	2465.14	59	chr6	31139016	.	T	C	2465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.3;DP=634;ExcessHet=0.2348;FS=2.174;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.478;SOR=0.849	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	8	0	2	0
chr6	31144749	31144749	C	T	exonic	CCHCR1	.	nonsynonymous SNV	CCHCR1:NM_001105563:exon15:c.G1997A:p.R666Q,CCHCR1:NM_001105564:exon15:c.G2105A:p.R702Q,CCHCR1:NM_019052:exon15:c.G1838A:p.R613Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0415474470555	0.0008	0.000199681	0.0004	0.0024	0.0004	0.0002	0	0.0003	0.0022	6.151e-05	0.0004463	69	154602	rs111409280	0.0004	0.0004	0.0004	0.0004	0.0037	0.0004	0.0004	0.0031	0.0029	0.0037	0.0005	3.826e-05	0.0001	1.873e-05	0.0014	0.0003	0.0008	9.277e-05	0.0007	0.0007	0.0008	0.0006	0.0017	0.0006	0.0005	0.0014	0.0013	0.0017	0	0.0009	0	0.0002	0	0	0.0003	0.0009	0	0.023	0.49117	D	0.452	0.23776	T	1.0	0.90584	D	0.934	0.66904	D	0.845437	0.09002	N	0.910388	0.985756	0.24681	N	2.28	0.64929	M	3.26	0.06681	T	-0.75	0.27463	N	0.466	0.51851	-1.0187	0.24139	T	0.024	0.10013	T	10	0.019592017	0.00440	T	0.041547	0.59986	D	0.117	0.32689	.	.	0.215869574891	0.21205	0.2122240625526656	0.21138	1.36001356848	0.84308	0.51328343153	0.40681	T	0.021835	0.27127	T	-0.468524	0.00868	T	-0.451636	0.27516	T	0.0389666507555052	0.03504	T	0.856614	0.54540	D	0.06447781	0.13684	0.095341526	0.22608	0.06447781	0.13684	0.095341526	0.22608	-4.456	0.33307	T	.	.	0.087	0.14062	B	.;.;.;.	.;.;.;.	4.276892	0.65116	24.8	0.99896264295381398	0.96895	0.77429	0.38069	D	AEFDBI	0.114483	0.22547	N	0.190921525701157	0.50763	3.263312	0.10742419973521	0.44925	2.76513	0.716621120648324	0.22882	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.96	3.11	0.34883	2.642000	0.46262	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.7776:0.0:0.2224	7.122	0.24628	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005435	0.000000	0.008152	0.015625	0.000000	0.000000	0.006098	0.003788	0.05	1545.43	34	chr6	31144749	.	C	T	1545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=460;ExcessHet=0;FS=3.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=0.062;SOR=1.071	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1557,0,1077	9	0	1	0
chr6	31161488	31161488	C	A	exonic	TCF19	.	nonsynonymous SNV	TCF19:NM_001077511:exon3:c.C280A:p.L94M,TCF19:NM_007109:exon3:c.C280A:p.L94M,TCF19:NM_001318908:exon4:c.C280A:p.L94M	.	435	1086	1	0	0	1	0.000460193	.	.	.	3331802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0167933427559	0.0003	.	0.0001	0.0013	8.797e-05	0	0	3.299e-05	0	0	9.06e-05	14	154602	rs201756282	5.861e-05	6.772e-05	6.626e-05	5.064e-05	0.0020	4.771e-05	4.413e-05	0.0016	0.0014	0.0020	3.97e-05	0	0	0	0.0004	1.907e-06	0.0002	4.624e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	0.0001	0	0	0	0	1.47e-05	0	0	0.207	0.24955	T	0.229	0.25827	T	0.877	0.48223	P	0.675	0.53279	P	0.012171	0.29266	N	0.351146	0.677033	0.30313	N	0.685	0.16464	N	-2.17	0.86624	D	0.11	0.08187	N	0.284	0.32148	-0.5843	0.65447	T	0.291	0.66297	T	10	0.04293096	0.03091	T	0.016793	0.38210	T	0.173	0.43840	.	.	0.657190473102	0.65432	0.2307501388189129	0.22990	1.35547843788	0.84179	0.535756826401	0.43847	T	0.092065	0.38927	T	-0.332114	0.05953	T	-0.311829	0.43462	T	0.0762015648819054	0.09494	T	0.644935	0.32652	T	0.15793853	0.35559	0.10238509	0.24539	0.15793853	0.35558	0.10238509	0.24538	-5.676	0.43479	T	.	.	0.122	0.33619	B	.;.;.	.;.;.	3.225934	0.43974	21.8	0.99557036419980594	0.71521	0.34663	0.25120	N	AEFDBHCI	0.124242	0.24020	N	0.105483232377259	0.46719	2.907959	0.184194684862978	0.48982	3.106948	0.999999770190653	0.74766	0.634777	0.41761	0	0.685571	0.66316	0	0.606735	0.37207	0	0.645665	0.59343	0	.	.	5.71	3.83	0.43287	0.745000	0.25927	.	.	0.589000	0.31548	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.1615:0.5971:0.1562:0.0852	4.170	0.09785	929	0.16858	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002176	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1637.43	35	chr6	31161488	.	C	A	1637.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.067;DP=439;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.229;SOR=0.598	GT:AD:DP:GQ:PL	0/1:60,67:127:99:1649,0,1372	9	0	1	0
chr6	31162515	31162515	C	T	exonic	TCF19	.	nonsynonymous SNV	TCF19:NM_001077511:exon4:c.C836T:p.A279V,TCF19:NM_007109:exon4:c.C836T:p.A279V,TCF19:NM_001318908:exon5:c.C836T:p.A279V	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0098	0.0121805	0.0069	0.0208	0.0043	0.0004	0.0009	0.0051	0.0058	0.0141	0.0061836	956	154602	rs77870954	0.0043	0.0043	0.0039	0.0048	0.0238	0.0042	0.0042	0.0205	0.0197	0.0215	0.0064	0.0093	0.0002	0.0006	0.0238	0.0030	0.0058	0.0143	0.0088	0.0088	0.0085	0.0092	0.0189	0.0084	0.0083	0.0178	0.0173	0.0189	0	0.0098	0.0072	0.0006	9.429e-05	0.0238	0.0042	0.0095	0.0146	0.145	0.25154	T	0.308	0.19845	T	0.0	0.02946	B	0.0	0.01387	B	0.446526	0.04790	N	1.335570	0.999994	0.08975	N	1.1	0.28011	L	1.92	0.23082	T	-0.8	0.22078	N	0.026	0.01004	-0.9747	0.36191	T	0.014	0.05513	T	10	0.0027285218	0.00042	T	.	.	.	0.003	0.00094	.	.	0.0551355673512	0.04727	0.38362942939470823	0.38277	0.49660854432	0.48164	0.361448168755	0.19597	T	0.002216	0.01614	T	-0.725905	0.00025	T	-0.800552	0.01889	T	0.000636903538643171	0.00006	T	0.330167	0.06908	T	0.039620284	0.05505	0.02574424	0.00631	0.039620284	0.05504	0.02574424	0.00630	-3.514	0.16628	T	.	.	0.075	0.05668	B	.;.	.;.	-0.265624	0.02772	0.375	0.9307783710340356	0.22696	0.01652	0.05304	N	AEFDBHCI	0.065613	0.12808	N	-1.19943932523531	0.05010	0.2273709	-1.22629162905742	0.05491	0.2617625	0.999999986182396	0.74766	0.839682	0.99964	0	0.685571	0.66316	0	0.736553	0.94036	0	0.683762	0.67416	0	.	.	4.74	-0.546	0.11248	-1.094000	0.03470	.	.	-0.880000	0.02471	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3883:0.4132:0.118:0.0806	4.204	0.09939	929	0.16858	.;.	.	.	.	.	rs116585049	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023810	0.010101	0.032609	0.016393	0.000000	0.008772	0.024390	0.011364	0.1	2056.14	35	chr6	31162515	.	C	T	2056.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.046;DP=469;ExcessHet=0.2348;FS=1.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.895;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	8	0	2	0
chr6	31170440	31170440	G	A	exonic	POU5F1	.	nonsynonymous SNV	POU5F1:NM_002701:exon1:c.C181T:p.P61S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.014716581848	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402701609	5.484e-06	6.156e-06	5.456e-06	5.512e-06	1.163e-05	2.36e-06	1.71e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.299e-06	0	1.163e-05	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.136	0.26085	T	0.346	0.17696	T	0.0	0.02946	B	0.001	0.04355	B	0.010655	0.29839	N	0.160475	1	0.08975	N	0.505	0.13445	N	-0.03	0.63077	T	-1.56	0.37759	N	0.17	0.18103	-1.0347	0.18951	T	0.041	0.17488	T	10	0.060598433	0.07468	T	0.014717	0.35020	T	0.041	0.10877	0.307	0.27806	0.168254554758	0.16434	0.217056483798254	0.21621	0.512130868119	0.49265	0.421325981617	0.28019	T	0.100195	0.40574	T	-0.217498	0.18337	T	-0.550197	0.17307	T	0.101033066115728	0.12470	T	.	.	.	0.029372973	0.02421	0.04068026	0.04453	0.029372973	0.02421	0.04068026	0.04452	-4.415	0.29759	T	.	.	0.064	0.30582	B	.;.	.;.	1.983145	0.25196	16.67	0.94046413002430163	0.24171	0.04415	0.10005	N	AEFBCI	0.049807	0.08643	N	-1.02016861962369	0.08186	0.3829307	-1.04182139087948	0.08878	0.4387275	0.999370999456336	0.39355	0.733237	0.96898	0	0.550933	0.16991	0	0.600757	0.32118	0	0.567892	0.33627	0	.	.	4.19	-0.123	0.12867	0.311000	0.19129	.	.	0.660000	0.55035	0.037000	0.20830	0.870000	0.27582	0.383000	0.26402	0.219:0.3702:0.4108:0.0	4.325	0.10476	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	311.43	40	chr6	31170440	.	G	A	311.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.4;MQRankSum=0.783;QD=8.9;ReadPosRankSum=-1.582;SOR=0.922	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	9	0	1	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.25	11464.1	165	chr6	31270002	.	C	T	11464.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.258;DP=1405;ExcessHet=0.2065;FS=0.534;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=59.39;MQRankSum=0.59;QD=23.4;ReadPosRankSum=1.55;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,120:120:99:1|1:31269990_T_C:5400,361,0:31269990	6	1	3	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.25	4050.13	68	chr6	31270250	.	C	A	4050.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.496;DP=744;ExcessHet=0.2065;FS=1.027;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=49.57;MQRankSum=-1.008;QD=17.69;ReadPosRankSum=-1.436;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,41:41:99:1|1:31270154_CAGA_C:1845,123,0:31270154	6	1	3	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1	4508.14	158	chr6	31271103	.	C	T	4508.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.759;DP=1269;ExcessHet=0.2348;FS=2.605;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=53.03;MQRankSum=1.28;QD=14.54;ReadPosRankSum=0.485;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	8	0	2	0
chr6	31271120	31271120	C	G	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G572C:p.W191S,HLA-C:NM_002117:exon3:c.G572C:p.W191S	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	.	.	.	0.0305	0.0409	0.0235	0.0133	0.0139	0.0322	0.04	0.0377	0.0235055	3634	154602	rs150127748	3.447e-05	0.0007	3.541e-05	3.353e-05	0.0001	2.543e-05	2.22e-05	5.793e-05	3.72e-05	8.66e-05	0.0001	0	4.805e-05	0	0	3.358e-05	2.307e-05	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.056	0.38407	T	0.235	0.24767	T	0.004	0.12183	B	0.039	0.23607	B	0.034101	0.01782	N	2.640200	0.999999	0.08975	N	.	.	.	9.23	0.00012	T	-8.99	0.98511	D	0.071	0.04426	-1.0547	0.13119	T	0.000	0.00039	T	10	0.017437935	0.00372	T	.	.	.	0.263	0.57612	.	.	.	.	0.47916892798528415	0.47836	0.827582985191	0.67484	0.422887742519	0.28234	T	0.088885	0.38255	T	-0.118559	0.33359	T	-0.408078	0.32447	T	0.055689136153455	0.06473	T	0.00846582	0.00040	T	.	.	.	.	.	.	.	.	-4.058	0.24668	T	.	.	0.164	0.38764	B	.;.;.	.;.;.	1.869959	0.23756	16.14	0.42989600505578496	0.03206	0.03967	0.09375	N	AEFGBHCI	0.128437	0.24621	N	-2.01232931330579	0.00199	0.008528513	-2.15168832890066	0.00144	0.006314187	0.999999987597125	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	-5.41	0.02442	0.536000	0.22838	.	.	-1.213000	0.01349	0.798000	0.29695	0.000000	0.08366	0.000000	0.00833	0.2407:0.1633:0.596:0.0	10.604	0.44576	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039417	0.075758	0.046196	0.029126	0.000000	0.034483	0.039634	0.022727	0.1	1502.14	157	chr6	31271120	.	C	G	1502.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.65;DP=1431;ExcessHet=0.2348;FS=1.572;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=52.39;MQRankSum=-0.146;QD=5.4;ReadPosRankSum=2.86;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	8	0	2	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	17174.2	173	chr6	31271153	.	A	*	17174.2	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.37;DP=1625;ExcessHet=2.4664;FS=1.091;InbreedingCoeff=-0.2;MLEAC=2;MLEAF=0.1;MQ=51.68;MQRankSum=-0.192;QD=13.25;ReadPosRankSum=-1.535;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:122,0:186:99:.:.:1651,2017,4989:.	8	0	2	0
chr6	31271207	31271207	G	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C485A:p.T162N,HLA-C:NM_002117:exon3:c.C485A:p.T162N	.	2	1446	73	1	0	75	0.0252781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.0285	0.0253	0.0185	0.0022	0.0219	0.0416	0.0234	0.0065	0.0026002	402	154602	rs2308584	0.0010	0.0090	0.0010	0.0010	0.0035	0.0009	0.0009	0.0028	0.0026	0.0035	0.0033	0.0073	0.0002	0.0004	0.0017	0.0008	0.0014	0.0005	0.0001	0.0090	8.544e-05	0.0001	0.0001	4.799e-05	3.361e-05	5.375e-05	3.509e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.063	0.45110	T	0.045	0.21781	B	0.16	0.34752	B	0.009683	0.01250	U	771.080000	1	0.08975	N	.	.	.	9.44	0.00008	T	-3.35	0.68298	D	0.07	0.04307	-0.9506	0.40868	T	0.000	0.00075	T	10	0.0056905746	0.00126	T	.	.	.	0.186	0.46104	.	.	.	.	0.11310932799472559	0.11238	0.614770505073	0.55979	0.328787267208	0.14750	T	0.015394	0.12921	T	-0.50846	0.00512	T	-0.468836	0.25641	T	0.0708414355338504	0.08768	T	0.00459954	0.00014	T	.	.	.	.	.	.	.	.	-8.6	0.65089	D	.	.	0.183	0.39647	B	.;.;.	.;.;.	1.252472	0.16495	12.58	0.70026550487147099	0.09162	0.01832	0.05685	N	AEFDGBHCI	0.138209	0.25943	N	-1.20749607607456	0.04889	0.2216519	-1.4198435015477	0.03054	0.1417363	0.999999918893126	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.67	0.05703	-3.847000	0.00395	.	.	-3.701000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	8.222	0.30707	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	chr6:31238984	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.053571	0.095960	0.072011	0.029412	0.050000	0.051724	0.033951	0.022727	0.05	1054.43	203	chr6	31271207	.	G	T	1054.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.27;DP=1551;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.55;MQRankSum=-5.938;QD=5.49;ReadPosRankSum=-3.333;SOR=0.714	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	9	0	1	0
chr6	31271334	31271334	-	CC	exonic	HLA-C	.	frameshift insertion	HLA-C:NM_001243042:exon3:c.357_358insGG:p.Q120Gfs*32,HLA-C:NM_002117:exon3:c.357_358insGG:p.Q120fs	.	2	1358	160	1	1	163	0.0562891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0069	0.0046	0.0016	0.0007	0.0034	0.0049	0.0049	0.001921	50	26028	rs748394002	0.0001	0.0010	0.0001	0.0001	0.0008	9.76e-05	9.07e-05	0.0002	0.0002	5.481e-05	0.0001	0.0005	0.0003	6.819e-05	0.0008	8.739e-05	0.0001	0.0003	1.492e-05	0.0003	0	3.118e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1070.39	121	chr6	31271334	.	G	GCC	1070.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=984;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.18;MQRankSum=0.433;QD=10.29;ReadPosRankSum=1.26;SOR=0.952	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	9	0	1	0
chr6	31271337	31271338	GG	-	exonic	HLA-C	.	frameshift deletion	HLA-C:NM_001243042:exon3:c.354_355del:p.L119Pfs*19,HLA-C:NM_002117:exon3:c.354_355del:p.T118fs	.	27	1333	161	1	0	163	0.0576175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0067	0.0047	0.0016	0.0007	0.0034	0.0050	0.0050	0.001921	50	26028	rs778339286	0.0001	0.0010	0.0001	0.0001	0.0008	9.287e-05	8.672e-05	0.0002	0.0001	5.51e-05	0.0001	0.0005	0.0003	6.851e-05	0.0008	8.505e-05	0.0001	0.0003	1.517e-05	0.0003	0	3.171e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1070.39	121	chr6	31271336	.	AGG	A	1070.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=983;ExcessHet=0;FS=1.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.15;MQRankSum=0.433;QD=10.29;ReadPosRankSum=1.19;SOR=0.952	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	9	0	1	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6204.3	122	chr6	31271337	.	G	*	6204.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.801;DP=993;ExcessHet=10.3881;FS=6.034;InbreedingCoeff=-0.6667;MLEAC=1;MLEAF=0.05;MQ=57.65;MQRankSum=-2.739;QD=7.63;ReadPosRankSum=-0.957;SOR=1.143	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:102,0:121:99:0|1:31271337_G_T:485,792,5048:31271337	9	0	1	0
chr6	31355317	31355317	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.G895A:p.E299K	.	1	1508	13	0	0	13	0.00429185	0.9995	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0122218025182	.	.	0.0002	0.0003	0	0	0	0.0002	0	0.0004	0.0002393	37	154602	rs2308500	1.17e-05	7.253e-05	9.59e-06	1.383e-05	0.0002	7.13e-06	5.83e-06	9.27e-06	4.57e-06	0	0	0	0	0	0.0002	1.085e-05	1.672e-05	3.491e-05	1.738e-05	0.0001	3.341e-05	0	3.426e-05	2.89e-06	1.08e-06	5.68e-06	2.13e-06	0	0	0	0	0	0	0	3.426e-05	0	0	0.011	0.55530	D	0.04	0.50809	D	0.001	0.07471	B	0.003	0.08700	B	0.051841	0.22945	U	0.214071	0.957019	0.26277	N	.	.	.	2.4	0.15608	T	-2.03	0.46673	N	0.276	0.31253	-0.9565	0.39825	T	0.124	0.42862	T	9	0.13269022	0.25254	T	0.012222	0.30597	T	0.203	0.48915	.	.	0.38242337071	0.37855	0.36252558072934316	0.36166	0.248699058187	0.27433	.	.	.	0.02485	0.18695	T	-0.325109	0.06488	T	-0.398796	0.33525	T	0.0325112404537327	0.02390	T	0.739226	0.35772	T	0.5487379	0.69885	0.35058028	0.60665	0.5487379	0.69886	0.35058028	0.60665	-7.555	0.57996	D	.	.	0.106	0.41602	B	.;.;.	.;.;.	3.948253	0.57820	23.9	0.99458550603173124	0.65684	0.43796	0.27177	N	AEFBHCI	0.191715	0.31890	N	0.330483401013941	0.57718	3.940387	0.169612600684755	0.48189	3.038366	0.999997039791642	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	2.28	0.27583	0.782000	0.26449	.	.	-0.313000	0.06017	0.999000	0.42656	0.000000	0.08366	0.038000	0.14061	0.0:0.8596:0.0:0.1404	6.408	0.20877	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004278	0.010101	0.002717	0.004464	0.000000	0.000000	0.012195	0.000000	0.05	307.43	173	chr6	31355317	.	C	T	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.729;DP=1300;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.62;MQRankSum=-6.387;QD=2.46;ReadPosRankSum=-1.263;SOR=0.826	GT:AD:DP:GQ:PL	0/1:98,27:125:99:319,0,2755	9	0	1	0
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.220557	0.202020	0.191576	0.234234	0.150000	0.250000	0.253049	0.268939	0.2	1482.57	199	chr6	31355338	.	T	C	1482.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.315;DP=1447;ExcessHet=1.5895;FS=10.624;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.63;MQRankSum=-10.92;QD=2.32;ReadPosRankSum=-0.008;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,30:129:99:.:.:357,0,2613:.	6	0	4	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,25:157:99:.:.:321,0,3925:.	3	0	7	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	23122.8	42	chr6	31356181	.	T	*	23122.8	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.94;DP=629;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.5;MQRankSum=-7.748;QD=29.51;ReadPosRankSum=-2.474;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:62:99:1|1:31356168_A_C:2763,2763,2763:31356168	9	0	1	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.05	291.43	42	chr6	31356197	.	C	T	291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.172;DP=643;ExcessHet=0;FS=8.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.78;MQRankSum=-1.991;QD=6.94;ReadPosRankSum=-2.064;SOR=1.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	9	0	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	13397.7	47	chr6	31356247	.	C	*	13397.7	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.58;DP=1059;ExcessHet=2.8549;FS=0;InbreedingCoeff=-0.2493;MLEAC=3;MLEAF=0.15;MQ=50.89;MQRankSum=-3.36;QD=14.28;ReadPosRankSum=-1.328;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:102,0:112:26:.:.:26,331,2722:.	8	1	1	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	4914.79	.	chr6	31356431	.	G	*	4914.79	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-1.359;DP=327;ExcessHet=0;FS=2.298;MLEAC=5;MLEAF=0.313;MQ=56.07;MQRankSum=4.58;QD=20.14;ReadPosRankSum=-0.521;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,34:.	6	2	0	2
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,44:44:99:1|1:31356711_C_CGGAG:1980,132,0:31356711	2	3	5	0
chr6	31356717	31356720	AGGT	0	exonic	HLA-B	.	.	.	.	38	705	540	138	101	917	0.366577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7390.36	18	chr6	31356717	.	AGGT	*	7390.36	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=449;ExcessHet=1.4371;FS=10.967;InbreedingCoeff=-0.0989;MLEAC=2;MLEAF=0.1;MQ=55.4;MQRankSum=-5.386;QD=17.89;ReadPosRankSum=-1.751;SOR=1.461	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:44:99:1|1:31356711_C_CGGAG:1980,1980,1980:31356711	9	1	0	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,44:44:99:1|1:31356711_C_CGGAG:1980,132,0:31356711	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:53:99:0|1:31356746_T_C:2225,672,560:31356746	3	5	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,105:105:99:1|1:31356809_C_T:4702,316,0:31356809	1	5	4	0
chr6	31410618	31410618	T	G	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon2:c.T146G:p.V49G,MICA:NM_001177519:exon2:c.T146G:p.V49G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0057	0.00698882	0.0022	0.0205	0.0004	0.0007	0.0012	0.0006	0.0011	0.0002	0.0020763	321	154602	rs17200158	0.0008	0.0008	0.0009	0.0007	0.0191	0.0008	0.0008	0.0178	0.0174	0.0191	0.0008	7.653e-05	0.0002	0.0013	0.0016	0.0003	0.0012	0.0001	0.0056	0.0056	0.0055	0.0056	0.0182	0.0052	0.0051	0.0172	0.0167	0.0182	0	0.0020	0	0.0002	0.0007	0.0068	0.0006	0.0057	0	1.0	0.35918	T	1.0	0.01155	T	0.012	0.16265	B	0.009	0.14300	B	0.665040	0.10393	N	0.771090	1	0.19363	N	.	.	.	6.75	0.00493	T	5.71	0.00019	N	0.148	0.15046	-0.9847	0.33903	T	0.000	0.00011	T	10	0.002904147	0.00047	T	.	.	.	0.078	0.22779	.	.	0.0297737177859	0.01360	0.5168620670879079	0.51609	0.140911219291	0.15895	0.341239184141	0.16623	T	0.018819	0.15105	T	-0.615122	0.00118	T	-0.64142	0.09565	T	0.00344233807832698	0.00036	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01668	B	.;.	.;.	-1.240388	0.00492	0.011	0.69367632553575986	0.08949	0.00043	0.00351	N	AEFDBI	0.024243	0.01470	N	-2.00030620287974	0.00211	0.009056648	-1.90259563111045	0.00484	0.02143707	0.96877145339347	0.29078	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.89	-2.26	0.06478	-0.378000	0.07503	.	.	-3.643000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2645:0.0:0.3426:0.3929	2.599	0.04565	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007667	0.005102	0.016304	0.000000	0.000000	0.008621	0.003086	0.000000	0.1	6585.14	176	chr6	31410618	.	T	G	6585.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.657;DP=1427;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.19;MQRankSum=-5.864;QD=14.97;ReadPosRankSum=1.49;SOR=0.628	GT:AD:DP:GQ:PL	0/1:104,101:205:99:2333,0,2736	8	0	2	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2756.94	78	chr6	31412383	.	TG	*	2756.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.105;DP=609;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:87:.:.:0,87,1305:.	8	1	1	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	13877.4	79	chr6	31412384	.	G	*	13877.4	.	AC=6;AF=0.3;AN=20;DP=615;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=27.7;SOR=1.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:37:99:.:.:1639,1639,1640:.	5	1	4	0
chr6	31415054	31415054	C	T	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon7:c.C1067T:p.T356M	.	420	1061	41	0	0	41	0.0189552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0135783	0.0114	0.0015	0.0041	0.0422	0.0113	0.0093	0.01	0.0146	0.0105238	1627	154602	rs41546114	0.0088	0.0089	0.0085	0.0091	0.0481	0.0086	0.0086	0.0462	0.0455	0.0012	0.0046	0.0016	0.0481	0.0118	0.0090	0.0072	0.0069	0.0152	0.0080	0.0080	0.0073	0.0087	0.0348	0.0076	0.0075	0.0307	0.0291	0.0017	0.0044	0.0081	0.0020	0.0348	0.0133	0.0034	0.0089	0.0095	0.0129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013072	0.005051	0.001359	0.021277	0.100000	0.017241	0.024390	0.018939	0.05	1757.43	113	chr6	31415054	.	C	T	1757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.987;DP=1102;ExcessHet=0;FS=1.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.683;SOR=0.842	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	9	0	1	0
chr6	31505701	31505701	A	C	exonic	MICB	.	nonsynonymous SNV	MICB:NM_001289160:exon2:c.A59C:p.D20A,MICB:NM_001289161:exon2:c.A155C:p.D52A,MICB:NM_005931:exon2:c.A155C:p.D52A	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00562265162551	0.0027	0.00119808	0.0006	0.0068	0.0007	0	0	6.316e-05	0	0.0002	0.0005951	92	154602	rs202130166	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0002	0.0061	0.0058	0.0068	0.0011	0	0	0	0.0017	4.946e-05	0.0010	0.0002	0.0022	0.0022	0.0024	0.0020	0.0068	0.0020	0.0019	0.0062	0.0059	0.0068	0	0.0020	0	0	0	0.0034	0.0001	0.0038	0.0004	0.0	0.91255	D	0.004	0.76473	D	0.999	0.77913	D	0.998	0.88582	D	0.037580	0.24386	U	0.197295	1	0.08975	N	.	.	.	3.13	0.08014	T	-7.61	0.95815	D	0.573	0.60156	-1.0933	0.05005	T	0.051	0.21495	T	10	0.020665944	0.00480	T	0.005623	0.14530	T	0.138	0.37187	.	.	0.697899727133	0.69529	0.8101778300501764	0.80972	1.01152582874	0.74794	0.330769598484	0.15051	T	0.18249	0.78568	T	-0.370681	0.03559	T	-0.302761	0.44433	T	0.179321384915273	0.19192	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.60962	B	.;.;.	.;.;.	2.692106	0.35142	19.82	0.98913959519917349	0.48418	0.41487	0.26668	N	AEFGBI	0.059467	0.11232	N	0.159613803909215	0.49267	3.129094	-0.125402488680827	0.34370	1.97622	0.990274518390485	0.32098	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.68	2.68	0.30839	3.260000	0.51225	.	.	0.410000	0.20643	0.583000	0.27610	0.003000	0.18671	0.132000	0.19645	1.0:0.0:0.0:0.0	7.118	0.24607	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001638	0.000000	0.001359	0.005319	0.000000	0.000000	0.000000	0.000000	0.05	2402.43	61	chr6	31505701	.	A	C	2402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=792;ExcessHet=0;FS=1.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.946;SOR=0.783	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	9	0	1	0
chr6	31576785	31576785	C	T	exonic	TNF	.	nonsynonymous SNV	TNF:NM_000594:exon3:c.C251T:p.P84L	.	0	1456	62	4	0	70	0.0234742	.	.	.	710405	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.188	0.0119564785465	0.0019	0.000599042	0.0024	0.0003	0.0023	0.0001	0.0003	0.0028	0.0034	0.0041	0.0021345	330	154602	rs4645843	0.0018	0.0018	0.0017	0.0020	0.0184	0.0018	0.0018	0.0155	0.0145	0.0009	0.0029	0.0106	0	0.0002	0.0184	0.0014	0.0028	0.0045	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0014	0.0017	0.0016	0.0003	0	0.0023	0.0109	0.0004	0.0002	0.0136	0.0020	0.0033	0.0021	0.145	0.25154	T	0.296	0.20615	T	0.007	0.14184	B	0.003	0.08700	B	0.084445	0.02389	N	1.798360	1	0.08975	N	1.25	0.31749	L	-2.04	0.85703	D	-0.66	0.19085	N	0.056	0.02759	-0.9293	0.44241	T	0.211	0.57067	T	10	0.0046066046	0.00096	T	0.011956	0.30096	T	0.188	0.46444	.	.	0.967945040658	0.96760	0.4098653570155833	0.40902	0.568028422092	0.53036	0.283045470715	0.07921	T	0.100786	0.40693	T	-0.488641	0.00661	T	-0.474409	0.25042	T	0.0327934610997307	0.02437	T	.	.	.	0.11627148	0.27428	0.08679749	0.20134	0.22171228	0.44754	0.104951486	0.25217	-3.833	0.21298	T	.	.	0.082	0.08754	B	.	.	1.914172	0.24313	16.35	0.91227581667590563	0.20484	0.04532	0.10164	N	AEFDBCI	0.061633	0.11797	N	-0.847107772778044	0.12121	0.588936	-0.844081313660175	0.13430	0.696636	0.999991238544582	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.62	0.019	0.13440	-0.178000	0.09775	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.982000	0.59238	0.535:0.364:0.0:0.101	5.542	0.16328	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.022331	0.000000	0.048913	0.005319	0.000000	0.017241	0.006098	0.007576	0.05	2752.43	33	chr6	31576785	.	C	T	2752.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.436;DP=519;ExcessHet=0;FS=4.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=1.89;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	9	0	1	0
chr6	31581580	31581580	G	A	exonic	LTB	.	nonsynonymous SNV	LTB:NM_002341:exon3:c.C259T:p.L87F	.	424	1093	5	0	0	5	0.00228206	.	.	.	699521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0045	0.00219649	0.0017	0.0103	0.0036	0.0002	0.0002	0.0009	0.0023	0.0002	0.0016817	260	154602	rs4647187	0.0013	0.0013	0.0014	0.0012	0.0114	0.0012	0.0012	0.0105	0.0101	0.0114	0.0049	0.0002	0.0004	0.0004	0.0055	0.0009	0.0023	0.0003	0.0052	0.0052	0.0051	0.0053	0.0126	0.0049	0.0048	0.0117	0.0114	0.0126	0	0.0095	0	0.0021	0.0003	0.0102	0.0012	0.0071	0.0006	0.077	0.34095	T	0.197	0.27855	T	0.567	0.38485	P	0.248	0.38946	B	0.290425	0.14779	N	0.625226	0.999999	0.30616	N	.	.	.	1.93	0.22881	T	-1.08	0.28084	N	0.399	0.43995	-1.0755	0.08246	T	0.029	0.12278	T	9	0.009936571	0.00223	T	.	.	.	0.047	0.12962	.	.	0.59354303687	0.59032	0.22618342968329402	0.22533	0.44943043317	0.44730	0.37412494421	0.21422	T	0.240705	0.60908	T	-0.562179	0.00246	T	-0.570912	0.15365	T	0.015947791361668	0.00378	T	.	.	.	0.28953156	0.51949	0.16241783	0.37729	0.28953156	0.51949	0.16241783	0.37728	-5.203	0.38972	T	.	.	0.127	0.26947	B	.	.	3.033411	0.40645	21.2	0.99808313424943473	0.89264	0.57554	0.30407	D	AEFDGBCI	0.103483	0.20731	N	0.129614049849555	0.47849	3.004872	0.180457419081102	0.48777	3.089132	0.999999566504408	0.74766	0.56387	0.32371	0	0.52208	0.09955	0	0.503968	0.08637	0	0.249971	0.05119	0	.	.	5.07	4.14	0.47821	2.137000	0.41754	.	.	0.668000	0.69082	0.879000	0.30968	1.000000	0.68203	0.882000	0.42233	0.0:0.0:0.798:0.2019	9.978	0.40968	884	0.28482	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004357	0.010101	0.004076	0.005319	0.000000	0.000000	0.000000	0.000000	0.05	424.43	36	chr6	31581580	.	G	A	424.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.913;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.205;SOR=0.736	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1134	9	0	1	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,28:101:99:0|1:31625601_T_C:538,0,2264:31625601	0	0	10	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,28:101:99:0|1:31625601_T_C:538,0,2264:31625601	0	0	10	0
chr6	31632329	31632329	C	T	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon16:c.C3656T:p.S1219F,PRRC2A:NM_080686:exon16:c.C3656T:p.S1219F	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0122205784193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs41273264	2.738e-06	2.736e-06	1.362e-06	4.127e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.093	0.39799	T	0.0	0.02946	B	0.001	0.04355	B	0.005593	0.32671	N	0.220980	0.658885	0.30467	N	0.695	0.17993	N	4.67	0.01735	T	-0.6	0.17834	N	0.229	0.25745	-0.9069	0.47227	T	0.002	0.00526	T	10	0.071799815	0.10632	T	0.012221	0.30597	T	0.097	0.27909	.	.	0.043077524339	0.03247	0.20535380362719682	0.20452	0.242962122391	0.26798	0.465569347143	0.34073	T	0.012497	0.10973	T	-0.266661	0.12132	T	-0.620817	0.11121	T	0.175522627460669	0.18948	T	0.805419	0.45334	T	0.08533358	0.19789	0.08228728	0.18768	0.08533358	0.19789	0.08228728	0.18767	-6.157	0.47574	T	.	.	0.153	0.40048	B	.;.	.;.	2.013733	0.25586	16.82	0.71343930578211767	0.09597	0.60148	0.31113	D	AEFDBCI	0.152973	0.27775	N	-0.579574040355288	0.19566	1.025024	-0.46464704331389	0.23134	1.260078	0.999904825748263	0.45458	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.29	4.42	0.52775	0.004000	0.13007	.	.	0.592000	0.32167	0.000000	0.06391	1.000000	0.68203	0.010000	0.09038	0.0:0.7693:0.1505:0.0802	9.134	0.36025	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1071.43	36	chr6	31632329	.	C	T	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.961;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.786;SOR=0.776	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	9	0	1	0
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S,PRRC2A:NM_080686:exon30:c.T6248C:p.F2083S	.	411	1024	80	7	0	94	0.0438842	.	.	.	3221664	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.059368	0.116162	0.059783	0.127660	0.200000	0.077586	0.012195	0.030303	0.1	4824.14	38	chr6	31637239	.	T	C	4824.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=861;ExcessHet=0.2348;FS=1.733;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.732;SOR=0.821	GT:AD:DP:GQ:PL	0/1:104,93:197:99:2161,0,2610	8	0	2	0
chr6	31656057	31656057	A	G	exonic	APOM	.	nonsynonymous SNV	APOM:NM_019101:exon1:c.A91G:p.T31A	.	422	1070	29	1	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0039	0.00579073	0.0125	0.0013	0.0092	0.0083	0.0033	0.0155	0.0140	0.0137	0.0045536	704	154602	rs150345955	0.0044	0.0044	0.0040	0.0048	0.0256	0.0043	0.0043	0.0222	0.0209	0.0009	0.0047	0.0399	0.0009	0.0007	0.0256	0.0031	0.0072	0.0123	0.0046	0.0046	0.0041	0.0051	0.0133	0.0043	0.0042	0.0107	0.0097	0.0008	0	0.0067	0.0363	0.0023	0.0005	0.0238	0.0048	0.0081	0.0133	0.554	0.06502	T	0.722	0.05309	T	0.0	0.02946	B	0.001	0.04355	B	0.067749	0.21719	N	0.431594	1	0.20103	N	0.28	0.10031	N	.	.	.	-0.45	0.14782	N	0.037	0.01135	-0.9981	0.30451	T	0.024	0.10419	T	9	0.0020104945	0.00028	T	.	.	.	0.051	0.14325	.	.	0.0551355673512	0.04727	0.5968379005749489	0.59614	0.237888243689	0.26336	0.334143459797	0.15558	T	0.107038	0.41890	T	-0.691459	0.00041	T	-0.755622	0.03272	T	0.000514297947003674	0.00004	T	.	.	.	0.1760022	0.38489	0.0974176	0.23188	0.1760022	0.38489	0.0974176	0.23187	-3.217	0.12689	T	.	.	0.069	0.03060	B	.	.	0.009654	0.04351	1.112	0.72547327394282368	0.10012	0.10028	0.15645	N	AEFGBHCI	0.447920	0.50337	N	-0.909602298151685	0.10617	0.5081887	-0.938578513546603	0.11190	0.5684995	0.999999973862145	0.74766	0.679555	0.55442	0	0.379588	0.06130	0	0.600882	0.32295	2	0.727631	0.95156	0	.	.	5.16	-5.72	0.02211	-0.473000	0.06694	.	.	0.747000	0.86732	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.3636:0.3672:0.1584:0.1107	2.470	0.04283	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023472	0.010204	0.032698	0.015957	0.000000	0.008772	0.021341	0.007576	0.05	606.43	35	chr6	31656057	.	A	G	606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.978;DP=374;ExcessHet=0;FS=2.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=1.21;SOR=0.426	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	9	0	1	0
chr6	31664144	31664144	G	A	exonic	GPANK1	.	nonsynonymous SNV	GPANK1:NM_033177:exon2:c.C335T:p.A112V,GPANK1:NM_001199237:exon3:c.C335T:p.A112V,GPANK1:NM_001199238:exon3:c.C335T:p.A112V,GPANK1:NM_001199239:exon3:c.C335T:p.A112V,GPANK1:NM_001199240:exon3:c.C335T:p.A112V	.	364	1135	22	1	0	24	0.0104621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	.	0.0096	0.00958466	0.0056	0.0191	0.0039	0	0.0021	0.0057	0.0044	0.0023	0.005595	865	154602	rs35265780	0.0049	0.0049	0.0049	0.0049	0.0193	0.0048	0.0048	0.0181	0.0176	0.0193	0.0048	0.0041	0	0.0034	0.0149	0.0048	0.0059	0.0021	0.0082	0.0082	0.0085	0.0080	0.0159	0.0079	0.0077	0.0149	0.0145	0.0159	0	0.0061	0.0046	0	0.0022	0.0272	0.0062	0.0104	0.0012	0.121	0.65419	T	0.016	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000005	0.62929	D	0.061409	1	0.81001	D	1.235	0.30780	L	0.41	0.57100	T	-1.98	0.64826	N	0.778	0.77695	-0.7156	0.59678	T	0.227	0.59133	T	10	0.008087993	0.00183	T	.	.	.	0.185	0.45933	.	.	0.627026710118	0.62398	0.7747713023650127	0.77427	0.843503759905	0.68176	0.514835476875	0.40900	T	0.007496	0.55798	T	-0.32874	0.06206	T	-0.229393	0.51830	T	0.0210090182334802	0.00802	T	0.855114	0.54241	D	0.31491524	0.54208	0.3773915	0.62840	0.31491524	0.54208	0.3773915	0.62840	-8.575	0.64924	D	.	.	0.488	0.74455	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.090565	0.85006	28.5	0.99914691578211678	0.98309	0.92310	0.55417	D	ALL	0.912430	0.87304	D	0.731584447920702	0.81704	7.584728	0.732916103139159	0.84878	8.416199	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.52208	0.10781	0	0.241949	0.04745	2	.	.	5.25	5.25	0.73169	7.777000	0.84262	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.339	0.82909	889	0.27310	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020697	0.025253	0.039402	0.000000	0.050000	0.008621	0.003049	0.011364	0.05	1874.43	33	chr6	31664144	.	G	A	1874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.816;DP=485;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.234;SOR=0.717	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr6	31679209	31679209	G	A	exonic	LY6G5C	.	nonsynonymous SNV	LY6G5C:NM_025262:exon2:c.C181T:p.R61C	.	437	1018	66	1	0	68	0.0323194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	.	0.0036	0.0227636	0.0169	0.0046	0.0068	0.0109	0	0.0020	0.0217	0.0987	0.0145664	2252	154602	rs145921744	0.0081	0.0081	0.0054	0.0107	0.0926	0.0079	0.0079	0.0909	0.0902	0.0063	0.0044	3.826e-05	0.0079	7.643e-05	0.0097	0.0019	0.0157	0.0926	0.0065	0.0065	0.0053	0.0076	0.0885	0.0061	0.0060	0.0816	0.0789	0.0051	0	0.0047	0	0.0168	0.0002	0.0034	0.0022	0.0147	0.0885	0.01	0.56456	D	0.02	0.58613	D	0.894	0.49185	P	0.312	0.41466	B	0.727062	0.09886	N	0.818192	0.516679	0.31863	D	1.445	0.36358	L	-2.24	0.87194	D	-2.76	0.58569	D	0.084	0.06059	-0.8846	0.49390	T	0.234	0.60063	T	10	0.0023189783	0.00034	T	.	.	.	0.360	0.68052	.	.	.	.	0.5892804808007955	0.58858	1.21905781881	0.81036	0.264205992222	0.05402	T	0.10245	0.41018	T	-0.347274	0.04900	T	-0.195046	0.55114	T	0.0382722174144337	0.03381	T	0.676832	0.28555	T	0.06356132	0.13397	0.04214743	0.04952	0.06356132	0.13397	0.04214743	0.04952	-9.13	0.68530	D	.	.	0.113	0.22428	B	.	.	3.510531	0.49159	22.7	0.99587674766532908	0.73395	0.44099	0.27244	N	AEFBI	0.135247	0.25552	N	-0.330590158614823	0.27992	1.540278	-0.33022311357452	0.27128	1.503155	0.981238292143273	0.30236	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.46	0.459	0.15890	0.600000	0.23803	.	.	-0.105000	0.15698	0.999000	0.42656	0.955000	0.29136	0.971000	0.54645	0.1148:0.0:0.4773:0.4079	4.467	0.11114	895	0.25842	.	.	.	.	.	rs145921744	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019063	0.005051	0.002717	0.005319	0.050000	0.017544	0.015244	0.060606	0.05	1410.43	34	chr6	31679209	.	G	A	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.474;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=-0.693;SOR=0.73	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	9	0	1	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D,LY6G6F-LY6G6D:NM_001353334:exon4:c.G797A:p.G266D	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.059368	0.126263	0.057065	0.127660	0.200000	0.078947	0.012195	0.030303	0.1	1493.14	33	chr6	31710176	.	G	A	1493.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.804;DP=420;ExcessHet=0.2348;FS=4.021;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.079;SOR=1.043	GT:AD:DP:GQ:PL	0/1:42,27:69:99:697,0,1060	8	0	2	0
chr6	31719250	31719250	G	C	exonic	LY6G6C	.	nonsynonymous SNV	LY6G6C:NM_025261:exon3:c.C224G:p.A75G	.	415	1077	29	1	0	31	0.0141876	.	.	.	710408	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.087	.	0.0039	0.00898562	0.0069	0.0006	0.0039	0.0157	0.0005	0.0068	0.0066	0.0112	0.0064876	1003	154602	rs117894946	0.0057	0.0057	0.0052	0.0061	0.0443	0.0056	0.0055	0.0426	0.0419	0.0010	0.0048	0.0398	0.0443	0.0007	0.0258	0.0032	0.0073	0.0122	0.0051	0.0051	0.0046	0.0055	0.0152	0.0048	0.0046	0.0125	0.0115	0.0008	0	0.0069	0.0363	0.0152	0.0005	0.0238	0.0049	0.0080	0.0134	0.397	0.11191	T	0.477	0.16717	T	0.0	0.02946	B	0.002	0.06944	B	0.160136	0.17689	N	0.473300	1	0.08975	N	0.46	0.12951	N	-2.74	0.90735	D	-1.33	0.33197	N	0.086	0.06322	-0.8717	0.50401	T	0.183	0.53118	T	10	0.0016444623	0.00020	T	.	.	.	0.087	0.25287	.	.	0.0986583533028	0.09354	0.39497276819247984	0.39412	0.350227071823	0.36867	0.352285891771	0.18258	T	0.026541	0.19622	T	-0.414327	0.01861	T	-0.356897	0.38410	T	0.00149840095944933	0.00015	T	.	.	.	0.033119746	0.03467	0.05336692	0.08975	0.033119746	0.03467	0.05336692	0.08975	-3.533	0.16897	T	.	.	0.098	0.23077	B	.;.	.;.	1.056704	0.14384	10.96	0.90474642300220276	0.19732	0.01775	0.05566	N	AEFBI	0.071334	0.14196	N	-1.02058554680631	0.08177	0.3825018	-0.966148112167591	0.10551	0.5321079	0.999613741785482	0.40981	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	5.03	0.842	0.18064	0.154000	0.16160	.	.	0.604000	0.46097	0.002000	0.15269	0.000000	0.08366	0.829000	0.39076	0.1919:0.1604:0.4829:0.1648	1.705	0.02706	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.024510	0.010101	0.032609	0.015957	0.000000	0.008621	0.021341	0.007576	0.05	2302.43	36	chr6	31719250	.	G	C	2302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.376;DP=540;ExcessHet=0;FS=1.112;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.021;SOR=0.792	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr6	31724618	31724618	C	T	exonic	MPIG6B	.	nonsynonymous SNV	MPIG6B:NM_025260:exon4:c.C532T:p.P178S,MPIG6B:NM_138272:exon4:c.C532T:p.P178S,MPIG6B:NM_138277:exon4:c.C532T:p.P178S	.	420	1089	13	0	0	13	0.00593336	.	.	.	699523	not_provided|MPIG6B-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0011	0.0141773	0.0063	0.0003	0.0042	0.0185	0.0159	0.0024	0.0088	0.0170	0.0058085	898	154602	rs150417881	0.0030	0.0030	0.0027	0.0034	0.0159	0.0030	0.0029	0.0152	0.0149	0.0002	0.0036	0.0003	0.0096	0.0146	0.0036	0.0013	0.0039	0.0159	0.0034	0.0034	0.0027	0.0041	0.0226	0.0031	0.0031	0.0193	0.0180	0.0003	0	0.0031	0	0.0226	0.0132	0	0.0014	0.0019	0.0203	0.139	0.25979	T	0.0	0.92824	D	0.291	0.32334	B	0.214	0.37471	B	0.008721	0.30696	N	0.152218	0.552674	0.32146	D	.	.	.	0.87	0.46412	T	-4.27	0.76254	D	0.26	0.32481	-1.0354	0.18731	T	0.033	0.13986	T	8	0.0045332313	0.00094	T	.	.	.	0.012	0.01476	.	.	0.190952846119	0.18690	0.5494887875273428	0.54874	0.517718159117	0.49631	.	.	.	0.059697	0.35040	T	-0.513222	0.00481	T	-0.489035	0.23493	T	0.0161723580370317	0.00392	T	0.576842	0.21138	T	0.08314755	0.19188	0.15560047	0.36467	0.07525576	0.16941	0.15560047	0.36466	-4.047	0.27740	T	.	.	0.151	0.34689	B	.;.;.;.;.	.;.;.;.;.	1.552707	0.19898	14.49	0.90035662969182439	0.19323	0.06416	0.12420	N	AEFBCI	0.049036	0.08432	N	-0.498600615564328	0.22126	1.179288	-0.505614062870388	0.22000	1.192836	0.999998404440637	0.74766	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	5.12	3.26	0.36471	0.726000	0.25653	.	.	0.549000	0.26987	0.234000	0.24685	0.910000	0.28117	0.265000	0.23644	0.0:0.7596:0.0:0.2404	6.309	0.20364	889	0.27310	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1670.43	34	chr6	31724618	.	C	T	1670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.194;DP=470;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.333;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	9	0	1	0
chr6	31724983	31724983	C	T	exonic	MPIG6B	.	nonsynonymous SNV	MPIG6B:NM_138275:exon4:c.C503T:p.A168V,MPIG6B:NM_138273:exon5:c.C563T:p.A188V,MPIG6B:NM_138272:exon6:c.C635T:p.A212V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0342489084199	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438470481	2.053e-06	2.736e-06	1.362e-06	2.752e-06	2.989e-05	5.5e-07	1.5e-07	.	.	2.989e-05	0	0	0	0	0	8.998e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.041204	0.23974	N	0.296498	1	0.81001	D	2.295	0.65404	M	0.65	0.52642	T	-3.43	0.67359	D	0.494	0.59563	-0.9455	0.41731	T	0.139	0.45753	T	10	0.628935	0.68404	D	0.034249	0.55546	D	0.291	0.61040	0.441	0.49648	0.450539155747	0.44678	0.6844257973008938	0.68381	0.837266811194	0.67863	.	.	.	0.073949	0.34821	T	0.0926663	0.63489	D	-0.00403768	0.70073	D	0.984468877315521	0.75764	D	0.761424	0.38629	T	0.11114705	0.26268	0.28141028	0.54123	0.11114705	0.26268	0.28141028	0.54122	-8.672	0.65563	D	.	.	0.310	0.56664	B	.;.;.;.	.;.;.;.	4.540907	0.71374	25.7	0.9983754236953315	0.91886	0.49799	0.28516	N	AEFDBCI	0.182204	0.30953	N	0.200316847906875	0.51213	3.304539	0.0929648371653892	0.44195	2.705892	0.999999999532344	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.508809	0.08732	0	.	.	4.76	4.76	0.60189	1.367000	0.33809	.	.	0.596000	0.33519	0.825000	0.30060	1.000000	0.68203	0.180000	0.21296	0.0:1.0:0.0:0.0	13.134	0.58817	889	0.27310	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	975.43	47	chr6	31724983	.	C	T	975.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=1.6;SOR=0.716	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr6	31740528	31740528	C	T	exonic	MSH5	.	nonsynonymous SNV	MSH5:NM_002441:exon2:c.C62T:p.S21F,MSH5:NM_025259:exon2:c.C62T:p.S21F,MSH5:NM_172165:exon2:c.C62T:p.S21F,MSH5:NM_172166:exon2:c.C62T:p.S21F	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00861562580546	.	0.000599042	0.0002	0.0011	0.0016	0	0	0	0	0.0001	9.06e-05	14	154602	rs200570010	2.871e-05	2.941e-05	2.552e-05	3.198e-05	0.0007	2.164e-05	1.905e-05	0.0005	0.0004	0.0007	2.838e-05	0	0	0	0.0002	1.114e-05	3.477e-05	2.528e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.538e-05	0	0	0	0.0034	1.47e-05	0.0005	0	0.009	0.61437	D	0.059	0.45961	T	0.063	0.25941	B	0.037	0.29098	B	0.887761	0.08709	N	0.941682	.	.	.	1.245	0.31408	L	1.33	0.35031	T	-0.94	0.25118	N	0.239	0.27197	-1.0170	0.24690	T	0.027	0.11441	T	9	0.016038299	0.00337	T	0.008616	0.22779	T	0.044	0.11924	.	.	0.445910236696	0.44209	0.31936905912409114	0.31849	0.699190003716	0.61010	.	.	.	0.086406	0.37716	T	-0.32741	0.06310	T	-0.376014	0.36187	T	0.140288665890694	0.16300	T	.	.	.	0.03213787	0.03181	0.045818884	0.06249	0.03213787	0.03181	0.045818884	0.06249	-4.979	0.36786	T	.	.	0.108	0.21728	B	.;.;.;.;.	.;.;.;.;.	1.690063	0.21535	15.24	0.97565215621499357	0.34648	0.05468	0.11349	N	AEFDBHCI	0.048018	0.08148	N	-0.833161489396244	0.12468	0.6079518	-0.867260788879578	0.12873	0.6647272	0.999999993902304	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.77	2.02	0.25641	0.347000	0.19760	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7074:0.0:0.2926	6.816	0.23013	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001117	0.000000	0.001385	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	822.43	35	chr6	31740528	.	C	T	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.848;DP=340;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=0.862;SOR=0.379	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	9	0	1	0
chr6	31765767	31765767	G	A	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon17:c.C2503T:p.R835W	.	428	1041	52	1	0	54	0.0252809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0015	0.0209665	0.0146	0.0027	0.0019	0.0123	0	0.0010	0.0268	0.1120	0.0121344	1876	154602	rs28399997	0.0068	0.0069	0.0044	0.0092	0.0853	0.0067	0.0066	0.0836	0.0830	0.0019	0.0018	0	0.0075	7.829e-05	0.0075	0.0012	0.0156	0.0853	0.0046	0.0046	0.0039	0.0054	0.0820	0.0043	0.0042	0.0753	0.0727	0.0020	0	0.0025	0	0.0151	9.414e-05	0	0.0012	0.0128	0.0820	0.023	0.48186	D	0.021	0.58089	D	0.688	0.41582	P	0.036	0.22909	B	0.372373	0.04370	N	1.482110	1	0.08975	N	0	0.06538	N	2.66	0.12575	T	-0.7	0.19933	N	0.058	0.02964	-0.9414	0.42394	T	0.007	0.02518	T	10	0.0016879141	0.00021	T	.	.	.	0.108	0.30607	.	.	.	.	0.32778010401152163	0.32691	0.679698092416	0.59945	0.351189315319	0.18097	T	0.001842	0.01261	T	-0.654375	0.00068	T	-0.641561	0.09556	T	0.0175965136085105	0.00492	T	.	.	.	0.13188592	0.30727	0.0849881	0.19592	0.13188592	0.30727	0.0849881	0.19592	-5.029	0.37153	T	.	.	0.070	0.03443	B	.	.	3.391797	0.46967	22.4	0.98701022032391184	0.44910	0.33231	0.24778	N	AEFDBCI	0.294634	0.40496	N	-0.705706012100094	0.15861	0.8031031	-0.717490922813437	0.16525	0.8746093	0.999998793596396	0.74766	0.65757	0.49021	0	0.550933	0.16991	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	4.87	1.82	0.24209	0.359000	0.19970	.	.	0.672000	0.70159	0.982000	0.35529	0.971000	0.29754	0.021000	0.11733	0.0:0.0:0.4751:0.5249	10.977	0.46687	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019629	0.000000	0.005435	0.005319	0.050000	0.025862	0.009202	0.053030	0.05	919.43	37	chr6	31765767	.	G	A	919.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.1;DP=403;ExcessHet=0;FS=0.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.66;SOR=0.75	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	9	0	1	0
chr6	31779733	31779733	C	T	exonic	VARS1	.	nonsynonymous SNV	VARS1:NM_006295:exon27:c.G3163A:p.V1055I	.	420	1076	26	0	0	26	0.0119376	.	.	.	710410	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0043	0.0103834	0.0069	0.0008	0.0038	0.0136	0.0005	0.0061	0.0059	0.0143	0.0062806	971	154602	rs5030798	0.0055	0.0055	0.0050	0.0060	0.0440	0.0054	0.0054	0.0423	0.0416	0.0007	0.0044	0.0311	0.0440	0.0007	0.0206	0.0030	0.0068	0.0153	0.0047	0.0047	0.0042	0.0052	0.0159	0.0044	0.0043	0.0131	0.0120	0.0008	0	0.0063	0.0262	0.0143	0.0005	0.0204	0.0046	0.0062	0.0159	0.409	0.10180	T	0.418	0.14200	T	0.69	0.41631	P	0.205	0.37080	B	0.000087	0.51296	N	0.128615	0.987247	0.24536	N	2.075	0.57047	M	2.58	0.13434	T	-0.67	0.19297	N	0.156	0.16168	-1.0054	0.28337	T	0.015	0.05946	T	10	0.004672885	0.00098	T	.	.	.	0.062	0.17934	.	.	0.250512400709	0.24649	0.2745190858688172	0.27364	0.370001137427	0.38527	0.428485929966	0.29001	T	0.005444	0.04891	T	-0.651454	0.00071	T	-0.696221	0.06035	T	0.00591169167620866	0.00065	T	.	.	.	0.016296592	0.00188	0.07550983	0.16630	0.016296592	0.00188	0.07550983	0.16629	-6.096	0.47076	T	.	.	0.084	0.09723	B	.	.	1.129263	0.15156	11.63	0.9357667089964874	0.23421	0.46234	0.27715	N	AEFBCI	0.116620	0.22881	N	-0.540251191564904	0.20791	1.098625	-0.585729892632792	0.19864	1.067732	0.999686028024376	0.41756	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	3.54	0.39650	0.311000	0.19129	.	.	-0.800000	0.03169	0.001000	0.13787	0.001000	0.17328	0.335000	0.25317	0.0:0.8341:0.0:0.1659	10.026	0.41243	895	0.25842	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding|Valyl tRNA synthetase, anticodon-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017429	0.010101	0.016304	0.015957	0.000000	0.008621	0.018293	0.007576	0.05	1900.43	34	chr6	31779733	.	C	T	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=502;ExcessHet=0;FS=5.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.063;SOR=0.403	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1078	9	0	1	0
chr6	31869232	31869232	G	C	exonic	SLC44A4	.	nonsynonymous SNV	SLC44A4:NM_001178044:exon12:c.C1030G:p.Q344E,SLC44A4:NM_001178045:exon13:c.C928G:p.Q310E,SLC44A4:NM_025257:exon13:c.C1156G:p.Q386E	.	423	1074	25	0	0	25	0.0115048	.	.	.	710422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.077	.	0.0043	0.00878594	0.0065	0.0007	0.0039	0.0131	0.0005	0.0061	0.0048	0.0125	0.0057891	895	154602	rs117127493	0.0052	0.0052	0.0048	0.0056	0.0402	0.0051	0.0050	0.0386	0.0379	0.0008	0.0044	0.0309	0.0402	0.0007	0.0202	0.0030	0.0065	0.0119	0.0046	0.0046	0.0042	0.0051	0.0135	0.0043	0.0042	0.0108	0.0099	0.0009	0	0.0064	0.0265	0.0133	0.0005	0.0204	0.0047	0.0062	0.0135	0.078	0.33923	T	0.319	0.20357	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	0.998247	0.22858	N	1.715	0.44382	L	2.0	0.21473	T	-0.46	0.17003	N	0.418	0.50508	-1.0252	0.22017	T	0.022	0.09147	T	9	0.00639078	0.00145	T	.	.	.	0.077	0.22490	.	.	0.112648838833	0.10856	0.43523957592595125	0.43440	0.321883225191	0.34388	0.340873539448	0.16569	T	0.005345	0.04790	T	-0.49694	0.00595	T	-0.476209	0.24851	T	0.0134966109091628	0.00247	T	.	.	.	0.2327637	0.46069	0.31292823	0.57293	0.28253552	0.51290	0.31292823	0.57292	-4.207	0.26853	T	.	.	0.064	0.02228	B	.;.;.;.	.;.;.;.	3.356537	0.46317	22.3	0.9855314332973758	0.42871	0.83893	0.42985	D	AEFDBI	0.703168	0.65929	D	-0.0889971066839063	0.37874	2.209861	0.0838769118871218	0.43739	2.669406	0.897160004420779	0.25995	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.67	4.79	0.60909	3.154000	0.50391	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1533:0.8467:0.0	13.853	0.63005	912	0.21483	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018519	0.010101	0.017663	0.015957	0.000000	0.008772	0.021341	0.007576	0.05	1658.43	40	chr6	31869232	.	G	C	1658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.514;DP=507;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.856;SOR=0.611	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,114,1710	9	0	1	0
chr6	31946403	31946403	G	C	exonic	CFB	.	nonsynonymous SNV	CFB:NM_001710:exon2:c.G95C:p.R32P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0511046171758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.33418	T	0.113	0.36901	T	0.431	0.35606	B	0.076	0.28435	B	0.088946	0.02434	N	1.901760	1	0.08975	N	0.55	0.14455	N	-1.56	0.81815	D	0.21	0.30555	N	0.193	0.26717	-0.5587	0.66453	T	0.175	0.51816	T	10	0.29439914	0.47012	T	0.051105	0.64522	D	0.288	0.60691	0.614	0.74768	0.158396225186	0.15383	0.7215457721781202	0.72098	0.784736392748	0.65455	0.193452969193	0.00292	T	0.032367	0.22457	T	-0.0485548	0.44668	T	-0.307522	0.43924	T	0.414798587560654	0.29497	T	0.530047	0.17735	T	0.08692973	0.20224	0.09009692	0.21108	0.08692973	0.20224	0.09009692	0.21108	-3.713	0.19510	T	.	.	0.110	0.21049	B	.;.;.	.;.;.	-0.713610	0.01289	0.069	0.52000827089374047	0.04666	0.10728	0.16151	N	AEFGBHCI	0.874072	0.79676	D	-2.0034729368058	0.00208	0.008912172	-2.17750528054978	0.00126	0.005526676	0.999999999998264	0.74766	0.559995	0.30671	0	0.547309	0.14657	0	0.578056	0.29568	0	0.550183	0.17644	0	.	.	5.01	-10.0	0.00350	-2.311000	0.01209	.	.	-2.731000	0.00202	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3542:0.0931:0.5527:0.0	12.018	0.52617	923	0.18507	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3959.16	33	chr6	31946403	.	G	C	3959.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.14;DP=498;ExcessHet=0.2348;FS=3.851;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=0.287;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,72:124:99:0|1:31946402_C_T:2855,0,1886:31946402	9	0	1	0
chr6	31954664	31954675	GTCTCGATCCCG	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.622_633del:p.D211_R214del	.	418	1071	33	0	0	33	0.0151724	.	.	.	699529	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0056	0.0133786	0.0086	0.0022	0.0093	0.0091	0.0055	0.0060	0.0138	0.0234	0.00146	38	26028	rs377559803	0.0085	0.0084	0.0080	0.0089	0.0230	0.0083	0.0083	0.0222	0.0218	0.0011	0.0098	0.0012	0.0072	0.0056	0.0063	0.0075	0.0157	0.0230	0.0065	0.0065	0.0068	0.0062	0.0211	0.0062	0.0061	0.0177	0.0165	0.0020	0.0509	0.0094	0.0003	0.0141	0.0038	0.0106	0.0070	0.0136	0.0211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2486.39	41	chr6	31954663	.	TGTCTCGATCCCG	T	2486.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.108;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.27;ReadPosRankSum=-0.308;SOR=0.716	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	9	0	1	0
chr6	31962994	31962994	G	T	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon13:c.G1306T:p.V436L	Trichohepatoenteric syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0296308885566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.736e-06	0	4.134e-06	7.557e-05	5.5e-07	1.5e-07	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.08	0.87267	M	2.48	0.14657	T	-2.93	0.61284	D	0.79	0.78641	-0.5606	0.66381	T	0.148	0.47433	T	10	0.8657164	0.85814	D	0.029631	0.52101	D	0.476	0.76816	0.779	0.90388	0.522290170867	0.51874	0.8635075243417494	0.86314	1.1876977592	0.80190	0.721200108528	0.70222	T	0.279978	0.65267	T	0.137859	0.68121	D	-0.0397512	0.67718	D	0.99525660276413	0.87099	D	.	.	.	0.67033637	0.76451	0.6851976	0.81491	0.67033637	0.76452	0.6851976	0.81492	-12.126	0.85460	D	.	.	0.968	0.89082	P	.	.	5.663407	0.92889	33	0.99831583802071966	0.91284	0.99221	0.93017	D	AEFDBI	0.934721	0.92850	D	1.04694153520644	0.97017	15.46705	0.944972540640334	0.97252	15.82274	0.999999999999998	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	8.561000	0.90511	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.230	0.86864	923	0.18507	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2611.43	41	chr6	31962994	.	G	T	2611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=533;ExcessHet=0;FS=5.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.693;SOR=1.072	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr6	32042010	32042010	A	G	splicing	TNXB	NM_001365276:exon42:c.12469+2T>C;NM_019105:exon42:c.12463+2T>C;NM_032470:exon11:c.1756+2T>C	.	.	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	649	852	18	3	0	24	0.0138889	0.9639	0.64	.	443945	not_provided|Ehlers-Danlos_syndrome_due_to_tenascin-X_deficiency|TNXB-related_disorder	MedGen:C3661900|MONDO:MONDO:0011670,MedGen:C1848029,OMIM:606408,Orphanet:230839|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1082	0	0.5	0	.	0.0645	.	0.1404	0.0011142	29	26028	rs545719209	0.0111	0.0085	0.0100	0.0121	0.0515	0.0108	0.0107	0.0437	0.0407	0.0055	0.0098	0.0238	0.0005	0.0011	0.0515	0.0102	0.0132	0.0240	0.0106	0.0069	0.0103	0.0111	0.0192	0.0100	0.0097	0.0143	0.0126	0.0048	0	0.0147	0.0314	0.0027	0.0012	0.0802	0.0123	0.0272	0.0192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.111952	0.34447	T	0.085336	0.75934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.922929	0.57282	23.8	0.99383401819633854	0.61979	0.98625	0.84843	D	AEFGI	.	.	.	0.968673653607969	0.94697	12.96467	0.764717257158417	0.87252	9.158453	0.999974908037553	0.50053	0.164513	0.03853	0	0.195528	0.04277	0	0.083675	0.02720	0	0.062806	0.01542	0	0.857618	0.52466	4.66	4.66	0.57857	4.342000	0.59122	.	.	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.312000	0.24784	1.0:0.0:0.0:0.0	13.272	0.59600	923	0.18507	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	92.3	6	chr6	32042010	.	A	G	92.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=49;ExcessHet=0;FS=0;InbreedingCoeff=-0.1085;MLEAC=1;MLEAF=0.05;MQ=26.1;MQRankSum=-0.431;QD=15.38;ReadPosRankSum=0.842;SOR=0.368	GT:AD:DP:GQ:PL	0/1:2,4:6:45:103,0,45	9	0	1	0
chr6	32043548	32043548	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_032470:exon5:c.G826A:p.G276S,TNXB:NM_001365276:exon36:c.G11539A:p.G3847S,TNXB:NM_019105:exon36:c.G11533A:p.G3845S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	46	1439	32	5	0	42	0.0143836	.	.	.	1683144	See_cases|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.137	.	0.0018	0.00339457	0.0068	0.0016	0.0103	0.0017	0.0003	0.0063	0.0075	0.0139	0.0007684	20	26028	rs199688928	0.0039	0.0035	0.0034	0.0043	0.0194	0.0038	0.0037	0.0155	0.0140	0.0004	0.0055	0.0097	0.0003	0.0002	0.0194	0.0032	0.0058	0.0100	0.0032	0.0034	0.0027	0.0037	0.0095	0.0029	0.0028	0.0069	0.0061	0.0005	0	0.0078	0.0082	0.0014	0	0.0106	0.0035	0.0052	0.0095	0.298	0.18000	T	0.0	0.92824	D	.	.	.	.	.	.	0.000500	0.43931	D	0.101185	1	0.81001	D	.	.	.	0.5	0.55608	T	-4.0	0.81269	D	0.428	0.46742	-1.0719	0.09001	T	0.091	0.34847	T	10	0.009701818	0.00218	T	.	.	.	0.137	0.36984	.	.	0.316918214084	0.31302	0.4136048951951291	0.41276	1.07586337657	0.76961	0.59685254097	0.52460	T	0.064485	0.32447	T	-0.471116	0.00837	T	-0.442537	0.28526	T	0.0281921996046609	0.01716	T	0.668433	0.72366	T	0.20872347	0.43117	0.20812012	0.45100	0.20204142	0.42235	0.19100328	0.42534	-6.141	0.47444	T	0.12400312571121505	0.12101	0.297	0.52728	B	.;.;.;.;.	.;.;.;.;.	4.120674	0.61586	24.4	0.9950172087484398	0.68089	0.75628	0.37039	D	AEFGBI	0.269367	0.38566	N	0.186475487493959	0.50551	3.243918	0.191575787999785	0.49384	3.142268	0.170872636974423	0.17733	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.44	4.51	0.54589	2.440000	0.44513	.	.	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.696000	0.34018	0.0:0.8166:0.1834:0.0	11.335	0.48734	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020742	0.010204	0.012228	0.042553	0.000000	0.017241	0.030675	0.026515	0.1	322.34	14	chr6	32043548	.	C	T	322.34	.	AC=2;AF=0.1;AN=20;DP=92;ExcessHet=0;FS=0;InbreedingCoeff=0.9079;MLEAC=2;MLEAF=0.1;MQ=40;QD=27.08;SOR=4.407	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,225	9	1	0	0
chr6	32053514	32053514	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon25:c.C8665T:p.R2889W,TNXB:NM_019105:exon25:c.C8659T:p.R2887W	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1501	21	0	0	21	0.00694674	.	.	.	1817330	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0344986685189	.	.	0.0002	0	8.694e-05	0	0	0	0.0011	0.0010	0.0001294	20	154602	rs774438735	8.828e-05	8.893e-05	3.541e-05	0.0001	0.0013	7.558e-05	7.104e-05	0.0011	0.0010	0	4.472e-05	0	0	1.883e-05	0.0009	3.598e-06	6.628e-05	0.0013	4.596e-05	4.593e-05	6.423e-05	2.686e-05	0.0002	2.108e-05	1.526e-05	5.277e-05	2.833e-05	0	0	0.0002	0	0	0	0	4.411e-05	0	0.0002	0.018	0.50676	D	0.038	0.51421	D	.	.	.	.	.	.	.	.	.	.	0.998294	0.22242	N	.	.	.	0.34	0.58176	T	-3.68	0.70314	D	0.422	0.46180	-0.6972	0.60572	T	0.238	0.60559	T	9	0.10442045	0.19250	T	0.034499	0.55716	D	0.296	0.61616	.	.	0.243187853663	0.23924	.	.	.	.	0.518100261688	0.41358	T	0.235725	0.60304	T	-0.344161	0.05105	T	-0.31758	0.42841	T	0.416820734739304	0.29573	T	0.812119	0.48487	T	0.13293722	0.30938	0.08941707	0.20908	0.13293722	0.30938	0.08941707	0.20908	-10.238	0.75324	D	0.1261989376234965	0.12697	0.169	0.37140	B	.;.;.;.	.;.;.;.	2.065991	0.26268	17.06	0.98110129056344519	0.38343	0.21350	0.21370	N	AEFBI	0.328943	0.42945	N	-0.641415142798381	0.17710	0.9136646	-0.893753534888981	0.12242	0.6285343	0.00457487843446145	0.10623	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.38	0.134	0.14070	-0.293000	0.08357	.	.	-1.019000	0.01739	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.0:0.4732:0.5268	13.697	0.62066	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002723	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1950.43	35	chr6	32053514	.	G	A	1950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=499;ExcessHet=0;FS=2.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.68;MQRankSum=0.433;QD=11.15;ReadPosRankSum=1.7;SOR=0.616	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1363	9	0	1	0
chr6	32064851	32064851	C	G	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon19:c.G6811C:p.V2271L,TNXB:NM_019105:exon19:c.G6811C:p.V2271L	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	2	1489	31	0	0	31	0.0103024	.	.	.	252300	Cardiovascular_phenotype|not_specified|not_provided|Ehlers-Danlos_syndrome	MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	.	0.0042	0.00858626	0.0064	0.0009	0.0035	0.0131	0.0005	0.0061	0.0047	0.0113	0.0057438	888	154602	rs140770834	0.0053	0.0053	0.0049	0.0057	0.0400	0.0052	0.0051	0.0384	0.0377	0.0021	0.0048	0.0296	0.0400	0.0007	0.0235	0.0031	0.0065	0.0119	0.0049	0.0049	0.0044	0.0054	0.0135	0.0046	0.0045	0.0110	0.0100	0.0015	0	0.0066	0.0251	0.0135	0.0005	0.0204	0.0048	0.0066	0.0135	0.304	0.14303	T	0.285	0.21343	T	.	.	.	.	.	.	0.738196	0.06411	N	1.179880	1	0.08975	N	.	.	.	3.65	0.04267	T	-0.89	0.24026	N	0.057	0.02861	-0.9091	0.46965	T	0.003	0.00929	T	10	0.004063517	0.00079	T	.	.	.	0.025	0.05312	.	.	0.123314135267	0.11883	.	.	.	.	0.314401507378	0.12573	T	0.034229	0.23238	T	-0.723928	0.00026	T	-0.802261	0.01846	T	0.00382978151694769	0.00041	T	0.0770923	0.00568	T	0.070420764	0.15508	0.044852845	0.05903	0.058034055	0.11625	0.06733073	0.13913	-6.37	0.49275	T	0.12868766263925635	0.13357	0.159	0.35162	B	.;.;.	.;.;.	-1.546072	0.00268	0.004	0.80886153941094774	0.13416	0.00350	0.01805	N	AEFBI	0.070644	0.14031	N	-1.67153355631251	0.00948	0.04104736	-1.77717044078112	0.00835	0.03729989	0.995233291665387	0.34019	0.549168	0.22868	0	0.627178	0.54094	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.82	-8.27	0.00892	-2.248000	0.01271	.	.	-4.179000	0.00039	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0889:0.2928:0.2641:0.3542	2.804	0.05089	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021018	0.005208	0.023098	0.026882	0.000000	0.008621	0.022013	0.007576	0.05	1849.43	38	chr6	32064851	.	C	G	1849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=524;ExcessHet=0;FS=9.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.342;SOR=1.167	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1356	9	0	1	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	278.14	35	chr6	32084509	.	T	C	278.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.794;DP=508;ExcessHet=0.2348;FS=119.95;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.59;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1139:.	8	0	2	0
chr6	32085951	32085951	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon7:c.G2947A:p.A983T,TNXB:NM_019105:exon7:c.G2947A:p.A983T	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	1176763	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.142	0.00679864150355	.	0.00119808	0.0003	0.0012	0.0003	0.0002	0	0.0002	0	6.151e-05	0.0002393	37	154602	rs138850364	0.0001	0.0001	0.0001	0.0001	0.0015	0.0001	0.0001	0.0011	0.0010	0.0015	0.0004	0	0.0001	0	0.0013	5.942e-05	0.0005	0.0001	0.0004	0.0004	0.0003	0.0004	0.0010	0.0003	0.0003	0.0007	0.0006	0.0010	0	0.0005	0	0.0002	0	0	0.0001	0	0.0002	0.095	0.31235	T	0.002	0.79402	D	.	.	.	.	.	.	0.067244	0.21754	N	0.331049	0.997793	0.22503	N	.	.	.	3.53	0.04852	T	-2.05	0.47008	N	0.439	0.47765	-0.9777	0.35526	T	0.013	0.05033	T	10	0.029506356	0.01077	T	0.006799	0.17982	T	0.142	0.37995	.	.	0.326837869879	0.32287	.	.	.	.	0.46544033289	0.34055	T	0.058	0.30584	T	-0.409222	0.02012	T	-0.395974	0.33852	T	0.0279979757428674	0.01689	T	0.831417	0.50212	T	0.076745726	0.17375	0.095823854	0.22741	0.076745726	0.17375	0.095823854	0.22741	-7.706	0.59049	D	0.1295482642614728	0.13542	0.211	0.44397	B	.;.;.;.	.;.;.;.	4.968399	0.82200	27.7	0.99917281398028612	0.98518	0.63096	0.31983	D	AEFDBHCI	0.290187	0.40164	N	0.190692091223209	0.50753	3.262324	0.146154372193557	0.46938	2.931794	0.999999998291978	0.74766	0.653496	0.48692	0	0.480063	0.06835	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.89	2.99	0.33673	0.944000	0.28641	.	.	0.549000	0.26987	0.550000	0.27346	1.000000	0.68203	0.977000	0.56843	0.2336:0.7664:0.0:0.0	8.409	0.31795	911	0.21964	Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1463.43	33	chr6	32085951	.	C	T	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.359;DP=415;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-1.609;SOR=0.674	GT:AD:DP:GQ:PL	0/1:40,58:98:99:1475,0,875	9	0	1	0
chr6	32085972	32085972	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon7:c.C2926T:p.R976C,TNXB:NM_019105:exon7:c.C2926T:p.R976C	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0147469541557	.	.	8.778e-06	0	0	0	0	1.599e-05	0	0	6.5e-06	1	154602	rs776675309	6.182e-06	6.84e-06	8.199e-06	4.144e-06	8.969e-05	2.91e-06	2.11e-06	2.377e-05	1.258e-05	8.969e-05	0	0	5.038e-05	0	0	2.701e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.009	0.66756	D	.	.	.	.	.	.	0.965868	0.07747	N	1.018070	0.55165	0.31329	N	.	.	.	3.59	0.04544	T	-3.99	0.73893	D	0.442	0.48042	-0.9062	0.47308	T	0.010	0.03719	T	10	0.2562372	0.43025	T	0.014747	0.35069	T	0.128	0.35103	0.568	0.69034	0.189391138174	0.18552	.	.	.	.	0.324014782906	0.14029	T	0.340968	0.70992	T	-0.286662	0.09974	T	-0.464274	0.26135	T	0.959307491779327	0.65498	D	0.867413	0.58915	D	0.14266106	0.32821	0.124322385	0.29967	0.14266106	0.32820	0.124322385	0.29967	-12.631	0.87787	D	0.12868766263925635	0.13357	0.162	0.42877	B	.;.;.;.	.;.;.;.	5.150489	0.86261	28.9	0.9991154538476994	0.98095	0.29391	0.23809	N	AEFDBHCI	0.246283	0.36707	N	0.0356171547820315	0.43481	2.64022	-0.0370241111459923	0.38056	2.236801	0.999999990598098	0.74766	0.653496	0.48692	0	0.480063	0.06835	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.89	0.721	0.17373	1.592000	0.36286	.	.	0.618000	0.50648	0.217000	0.24502	0.997000	0.33255	0.935000	0.47363	0.0:0.178:0.457:0.365	6.353	0.20594	911	0.21964	Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1735.43	33	chr6	32085972	.	G	A	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=443;ExcessHet=0;FS=2.405;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.484;SOR=0.985	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr6	32097234	32097234	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon3:c.G619A:p.G207S,TNXB:NM_019105:exon3:c.G619A:p.G207S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1183818	not_provided|not_specified|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.348	0.0287910162191	0.0002	0.000998403	0.0003	0.0021	0.0006	0	0	0.0002	0	8.255e-05	0.000194	30	154602	rs139154852	0.0001	0.0001	9.989e-05	0.0001	0.0015	0.0001	9.475e-05	0.0012	0.0011	0.0015	0.0004	0	0	0	0.0012	4.964e-05	0.0005	8.245e-05	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0002	0.0007	0.0006	0.0009	0	0.0005	0	0	0	0	7.35e-05	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	0.000256	0.46924	D	0.000000	0.931363	0.36987	D	.	.	.	1.81	0.25182	T	-3.72	0.83157	D	0.794	0.79022	-0.8296	0.53327	T	0.126	0.43153	T	10	0.04814756	0.04227	T	0.028791	0.51409	D	0.348	0.66956	.	.	0.290620346082	0.28682	.	.	.	.	0.787975132465	0.80134	T	0.608673	0.87565	D	-0.325724	0.06440	T	-0.276034	0.47209	T	0.150018151207238	0.17105	T	0.959904	0.95103	D	0.70878536	0.78541	0.6916491	0.81853	0.70878536	0.78542	0.6916491	0.81854	-9.442	0.70498	D	0.12519815763166522	0.12409	0.251	0.48572	B	.;.;.;.;.	.;.;.;.;.	4.910603	0.80791	27.4	0.99846236074516526	0.92576	0.90955	0.52579	D	AEFDBCI	0.544673	0.55950	D	0.617521472281769	0.74282	6.106342	0.491594154635276	0.67432	5.083223	0.999999382332169	0.74766	0.62174	0.39705	0	0.541168	0.11318	0	0.491614	0.08109	1	0.542086	0.14980	0	.	.	4.22	3.33	0.37245	5.619000	0.67408	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.704000	0.34264	0.173:0.827:0.0:0.0	12.156	0.53384	906	0.23090	EGF-like domain, extracellular|EGF-like domain;.;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2315.43	34	chr6	32097234	.	C	T	2315.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=542;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=2.28;SOR=0.793	GT:AD:DP:GQ:PL	0/1:70,90:160:99:2327,0,1573	9	0	1	0
chr6	32120825	32120825	C	A	exonic	ATF6B	.	nonsynonymous SNV	ATF6B:NM_001136153:exon8:c.G769T:p.A257S,ATF6B:NM_004381:exon8:c.G778T:p.A260S	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0019	0.00239617	0.0033	0.0005	0.0027	0	0.0133	0.0033	0.0057	0.0030	0.0031306	484	154602	rs144595899	0.0032	0.0032	0.0033	0.0032	0.0039	0.0031	0.0031	0.0034	0.0033	0.0003	0.0039	0.0002	7.591e-05	0.0125	0.0012	0.0031	0.0027	0.0026	0.0029	0.0029	0.0028	0.0031	0.0045	0.0027	0.0026	0.0037	0.0033	0.0008	0	0.0045	0	0.0002	0.0119	0	0.0030	0.0033	0.0023	0.241	0.17643	T	0.329	0.20037	T	0.278	0.38961	B	0.084	0.39732	B	0.526695	0.05233	U	1.426730	0.985056	0.24745	N	2.2	0.62015	M	0.4	0.57261	T	-0.22	0.10480	N	0.373	0.41459	-1.0733	0.08702	T	0.046	0.19919	T	10	0.004032314	0.00078	T	.	.	.	0.035	0.08770	.	.	0.661569163496	0.65873	0.2764231792619899	0.27555	0.503281340955	0.48659	0.42653414607	0.28735	T	0.245434	0.61473	T	-0.461398	0.00964	T	-0.435687	0.29292	T	0.0156498248139547	0.00359	T	0.567543	0.20130	T	0.023695787	0.01131	0.04903318	0.07407	0.023695787	0.01131	0.04903318	0.07407	-3.623	0.18233	T	.	.	0.078	0.09917	B	.;.;.	.;.;.	1.412959	0.18288	13.65	0.97280107810859229	0.33181	0.49986	0.28559	N	AEFBI	0.129997	0.24838	N	-0.456935991771298	0.23506	1.262762	-0.386018008361575	0.25413	1.397408	0.251444722205072	0.18684	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.98	2.83	0.32150	0.824000	0.27034	.	.	-0.193000	0.09282	0.908000	0.31627	0.215000	0.23672	0.798000	0.37648	0.0:0.6993:0.0:0.3007	7.326	0.25729	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001089	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1061.43	33	chr6	32120825	.	C	A	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=416;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.051;SOR=0.952	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr6	32129540	32129540	-	AGACTTATGAGA	exonic	FKBPL	.	nonframeshift insertion	FKBPL:NM_022110:exon2:c.240_241insTCTCATAAGTCT:p.S80_H81insSHKS	.	0	1442	78	2	0	82	0.0276467	.	.	.	3207320	FKBPL-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0115815	0.0066	0.0013	0.0279	0.0095	0	0.0010	0.0099	0.0190	0.0011526	30	26028	rs373328430	0.0030	0.0030	0.0026	0.0035	0.0236	0.0030	0.0029	0.0224	0.0219	0.0007	0.0236	0.0011	0.0068	0.0001	0.0069	0.0007	0.0093	0.0195	0.0033	0.0033	0.0033	0.0032	0.0197	0.0030	0.0029	0.0165	0.0153	0.0013	0	0.0127	0.0014	0.0118	9.42e-05	0.0068	0.0009	0.0104	0.0197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2533.39	34	chr6	32129540	.	G	GAGACTTATGAGA	2533.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.613;DP=453;ExcessHet=0;FS=5.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.6;ReadPosRankSum=-1.319;SOR=0.84	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	9	0	1	0
chr6	32149330	32149330	G	T	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C813A:p.F271L,PRRT1:NM_001363780:exon6:c.C570A:p.F190L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.148155155941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.0	0.92824	D	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	0.999619	0.47849	D	0.525	0.13617	N	-1.78	0.83737	D	-0.82	0.22508	N	0.645	0.67045	-0.4564	0.70188	T	0.305	0.67547	T	9	0.44030547	0.58058	T	0.148155	0.83010	D	0.517	0.79400	0.597	0.72739	0.59450981025	0.59129	0.9585500951537168	0.95840	.	.	0.864538431168	0.91779	D	0.402142	0.75924	T	0.172012	0.71307	D	0.00930685	0.70937	D	0.806830763816833	0.46824	D	0.842016	0.51794	T	0.19066913	0.40662	0.37802637	0.62889	0.19066913	0.40661	0.37802637	0.62889	-4.665	0.49751	T	.	.	1.000	0.99395	P	.;.	.;.	3.776194	0.54268	23.5	0.99423307003456707	0.63887	0.86421	0.45698	D	AEFDBCI	0.848464	0.76529	D	0.0224924021030136	0.42879	2.591973	0.148259771449305	0.47050	2.941146	0.999999968885374	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.12	0.47504	4.781000	0.62082	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0924:0.0:0.9076:0.0	10.970	0.46646	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	216.05	116	chr6	32149330	.	G	T	216.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-5.53;DP=730;ExcessHet=0;FS=42.858;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.12;ReadPosRankSum=1.76;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,974:.	8	0	1	1
chr6	32149333	32149333	G	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C810G:p.N270K,PRRT1:NM_001363780:exon6:c.C567G:p.N189K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.156792939211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	1.232e-05	1.368e-06	0	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.12148	T	0.0	0.92824	D	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.990679	0.41211	D	0.225	0.09600	N	-1.92	0.84773	D	-0.56	0.17834	N	0.569	0.60156	-0.6100	0.64403	T	0.266	0.63759	T	9	0.29297018	0.46873	T	0.156793	0.83749	D	0.320	0.64215	0.442	0.49811	0.432604763906	0.42882	0.9495468269291918	0.94937	.	.	0.832174420357	0.86896	D	0.305599	0.67785	T	0.00976619	0.52993	T	-0.223748	0.52376	T	0.799855828285217	0.46343	D	0.846715	0.52677	T	0.090187326	0.21096	0.22930492	0.47998	0.090187326	0.21095	0.22930492	0.47997	-11.583	0.82760	D	.	.	1.000	0.99057	P	.;.	.;.	3.894575	0.56694	23.8	0.99712765615919852	0.81493	0.79475	0.39389	D	AEFDBCI	0.743137	0.68653	D	-0.297331295681822	0.29251	1.620488	-0.196946103386401	0.31649	1.793061	0.999727187316475	0.42220	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	0.743	0.17496	3.244000	0.51098	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.4105:0.0:0.5895:0.0	8.761	0.33831	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	222.02	112	chr6	32149333	.	G	C	222.02	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.591;DP=1084;ExcessHet=0;FS=42.858;InbreedingCoeff=-0.2953;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.54;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:104,0:104:12:.:.:0,12,2053:.	2	0	1	7
chr6	32149334	32149334	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A809G:p.N270S,PRRT1:NM_001363780:exon6:c.A566G:p.N189S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.279884387657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.17584	T	0.0	0.92824	D	0.997	0.70673	D	0.983	0.75793	D	.	.	.	.	0.999498	0.47278	D	1.24	0.30952	L	-2.01	0.85468	D	-0.63	0.18459	N	0.425	0.47487	-0.2691	0.75835	T	0.440	0.77871	T	9	0.36402738	0.52958	T	0.279884	0.90192	D	0.354	0.67510	0.418	0.45873	0.645989072673	0.64305	0.9062892947861514	0.90601	.	.	0.748579621315	0.74237	T	0.344234	0.71277	T	-0.0297985	0.47447	T	-0.28058	0.46746	T	0.798602044582367	0.46259	D	0.923008	0.71997	D	0.20115644	0.42116	0.2331584	0.48498	0.20115644	0.42116	0.2331584	0.48497	-5.308	0.40022	T	.	.	0.970	0.89480	P	.;.	.;.	4.519567	0.70844	25.6	0.998061028404575	0.89085	0.87146	0.46598	D	AEFDBCI	0.917338	0.88479	D	0.19664931557694	0.51037	3.288361	0.299307556983304	0.55498	3.712904	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	4.245000	0.58529	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.651	0.56123	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	219.56	112	chr6	32149334	.	T	C	219.56	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.707;DP=1026;ExcessHet=0;FS=42.858;InbreedingCoeff=-0.2204;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=1.52;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:108,0:108:65:.:.:0,65,2326:.	4	0	1	5
chr6	32149335	32149335	T	C	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.A808G:p.N270D,PRRT1:NM_001363780:exon6:c.A565G:p.N189D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.400916255884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.25457	T	0.0	0.92824	D	0.997	0.70673	D	0.989	0.78396	D	.	.	.	.	0.999493	0.47278	D	2.135	0.59519	M	-2.04	0.85703	D	-1.93	0.44852	N	0.619	0.63459	-0.0745	0.80676	T	0.541	0.83061	D	9	0.75981003	0.76259	D	0.400916	0.93395	D	0.503	0.78538	0.424	0.46857	0.803059469338	0.80121	0.9647599365794287	0.96462	.	.	0.820193946362	0.85057	D	0.648274	0.89295	D	0.0859516	0.62729	D	-0.114313	0.62265	T	0.961165368556976	0.66006	D	0.866613	0.56692	D	0.26133597	0.49192	0.30988634	0.57001	0.26133597	0.49192	0.30988634	0.57001	-12.378	0.86643	D	.	.	0.997	0.96404	P	.;.	.;.	5.523751	0.91805	32	0.99762601442043608	0.85172	0.87146	0.46598	D	AEFDBCI	0.921079	0.89399	D	0.513129237172383	0.67865	5.139079	0.524206799003174	0.69622	5.386896	0.999999999659074	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	6.993000	0.76009	.	.	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.651	0.56123	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	221.53	42	chr6	32149335	.	T	C	221.53	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.394;DP=798;ExcessHet=0;FS=42.929;InbreedingCoeff=-0.0603;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=1.52;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr6	32149340	32149340	G	A	exonic	PRRT1	.	nonsynonymous SNV	PRRT1:NM_030651:exon4:c.C803T:p.A268V,PRRT1:NM_001363780:exon6:c.C560T:p.A187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.972	0.567365613894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.0	0.92824	D	0.997	0.90584	D	0.992	0.88582	D	.	.	.	.	0.999989	0.54805	D	2.54	0.74080	M	-3.35	0.94022	D	-3.87	0.72594	D	0.898	0.90476	0.923	0.96008	D	0.861	0.95383	D	9	0.95940363	0.95333	D	0.567366	0.96074	D	0.972	0.99695	0.823	0.93527	0.917865689854	0.91703	0.9923644020631984	0.99232	.	.	0.796729326248	0.81466	T	0.835489	0.96113	D	0.505881	0.94462	D	0.488887	0.94383	D	0.992065455416527	0.82458	D	0.919208	0.70896	D	0.13374771	0.31098	0.32801107	0.58694	0.13374771	0.31097	0.32801107	0.58694	-7.94	0.60660	D	.	.	0.996	0.95780	P	.;.	.;.	5.923481	0.94075	33	0.9993780266695157	0.99698	0.97115	0.72777	D	AEFDBI	0.943053	0.94840	D	0.830813058453111	0.87991	9.413316	0.794955670732566	0.89439	9.975905	0.999999999998126	0.74766	0.652421	0.48094	0	0.610034	0.51514	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	4.99	4.99	0.65942	8.760000	0.91349	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.785	0.78069	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	221.43	42	chr6	32149340	.	G	A	221.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.752;DP=800;ExcessHet=0;FS=43.513;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.36;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr6	32181363	32181363	C	T	exonic	AGER	.	nonsynonymous SNV	AGER:NM_001136:exon10:c.G1106A:p.R369Q,AGER:NM_001206929:exon10:c.G1154A:p.R385Q,AGER:NM_001206932:exon10:c.G1064A:p.R355Q	.	415	1020	79	8	0	95	0.0444965	.	.	.	699532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.00958466	0.0074	0.0015	0.0288	0.0080	0	0.0020	0.0067	0.0201	0.0068628	1061	154602	rs3176931	0.0035	0.0035	0.0029	0.0040	0.0236	0.0034	0.0034	0.0224	0.0219	0.0007	0.0236	7.677e-05	0.0061	0.0002	0.0167	0.0012	0.0085	0.0204	0.0034	0.0034	0.0036	0.0032	0.0184	0.0032	0.0031	0.0153	0.0142	0.0012	0	0.0113	0	0.0110	9.407e-05	0.0102	0.0019	0.0080	0.0184	0.532	0.91255	T	0.704	0.09052	T	0.007	0.14184	B	0.003	0.08700	B	0.375220	0.04386	N	1.379500	1	0.08975	N	.	.	.	1.19	0.37910	T	-0.47	0.52128	N	0.096	0.07811	-1.0536	0.13413	T	0.017	0.06902	T	10	0.002130419	0.00031	T	.	.	.	0.039	0.10176	.	.	0.0716867268079	0.06686	0.17818856528763435	0.17737	0.176059839668	0.19819	0.226081043482	0.01691	T	0.005723	0.24916	T	-0.636222	0.00088	T	-0.668412	0.07711	T	0.00302830581673903	0.00032	T	0.408059	0.10511	T	0.016678704	0.00214	0.035600707	0.02844	0.016678704	0.00214	0.035600707	0.02843	-4.933	0.37548	T	.	.	0.069	0.06024	B	.;.;.;.;.	.;.;.;.;.	-0.020336	0.04144	0.990	0.811079802221224	0.13523	0.01926	0.05878	N	AEFBCI	0.022353	0.01107	N	-2.21518179078559	0.00071	0.003031937	-2.27190542192637	0.00077	0.003372642	0.999999999933849	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.29	-8.51	0.00804	-2.400000	0.01127	.	.	-1.756000	0.00682	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.6835:0.1041:0.2124	14.712	0.68856	929	0.16858	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013072	0.005051	0.002717	0.047872	0.000000	0.000000	0.003049	0.045455	0.15	5477.45	33	chr6	32181363	.	C	T	5477.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.03;DP=704;ExcessHet=0.7463;FS=0.521;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=-0.542;SOR=0.625	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1043	7	0	3	0
chr6	32335930	32335930	C	T	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_001286475:exon13:c.G364A:p.G122R,TSBP1:NM_006781:exon13:c.G433A:p.G145R,TSBP1:NM_001286474:exon14:c.G385A:p.G129R	.	430	1053	35	4	0	43	0.0200093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0023	0.0107827	0.0093	0.0008	0.0190	0.0158	0.0255	0.0041	0.0162	0.0170	0.0088679	1371	154602	rs139993810	0.0064	0.0066	0.0063	0.0066	0.0196	0.0063	0.0063	0.0185	0.0181	0.0012	0.0196	0.0027	0.0138	0.0205	0.0158	0.0038	0.0154	0.0181	0.0067	0.0067	0.0059	0.0076	0.0197	0.0064	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0266	0.0034	0.0040	0.0142	0.0145	0.003	0.68238	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	0.997147	0.23606	N	.	.	.	3.41	0.05574	T	-2.93	0.61284	D	0.252	0.43899	-0.9298	0.44168	T	0.007	0.02282	T	7	0.0052653253	0.00115	T	.	.	.	0.042	0.11227	0.214	0.13354	.	.	0.06775107962844537	0.06713	0.369240680333	0.38451	.	.	.	.	.	.	-0.561488	0.00249	T	-0.564379	0.15969	T	0.0414496540811556	0.03954	T	0.676832	0.28664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.55549	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.506794	0.70541	25.5	0.99415298787707362	0.63501	0.58008	0.30527	D	AEFI	0.167644	0.29433	N	-0.0615019390084884	0.39091	2.299705	-0.168684592006031	0.32696	1.862731	2.87057104956723E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.96	2.09	0.26154	0.913000	0.28233	.	.	-0.865000	0.02600	1.000000	0.71638	1.000000	0.68203	0.257000	0.23443	0.0:0.8587:0.0:0.1413	6.173	0.19644	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	rs139993810	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	53	chr6	32335930	.	C	T	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=364;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.276;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,980	9	0	1	0
chr6	32349791	32349791	G	A	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_006781:exon9:c.C298T:p.L100F	.	431	1053	34	4	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0023	0.0105831	0.0090	0.0008	0.0175	0.0156	0.0253	0.0040	0.0160	0.0169	0.0087127	1347	154602	rs79044345	0.0064	0.0065	0.0063	0.0066	0.0189	0.0063	0.0063	0.0178	0.0174	0.0012	0.0189	0.0027	0.0138	0.0206	0.0155	0.0038	0.0154	0.0183	0.0067	0.0067	0.0058	0.0076	0.0197	0.0063	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0263	0.0034	0.0040	0.0142	0.0145	0.051	0.91255	T	0.303	0.20164	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.38	0.05778	T	-0.15	0.10308	N	0.124	0.17278	-0.9131	0.46467	T	0.004	0.01330	T	8	0.0035131574	0.00063	T	.	.	.	0.048	0.13305	.	.	0.0806252709748	0.07271	0.03652289036496629	0.03599	0.868342382755	0.69304	.	.	.	.	.	.	-0.507272	0.00520	T	-0.487157	0.23689	T	0.014561251023395	0.00298	T	0.511449	0.17993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.38782	B	.;.;.;.	.;.;.;.	0.527122	0.08959	5.740	0.99703285299393041	0.80798	0.04503	0.10125	N	AEFDBI	0.043577	0.06905	N	-0.618116652917595	0.18400	0.9549886	-0.712612391797401	0.16647	0.8816196	8.31050451307236E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.65	0.709	0.17307	0.345000	0.19720	.	.	0.674000	0.70861	0.017000	0.19353	0.379000	0.24607	0.625000	0.32026	0.1155:0.0:0.4702:0.4143	4.106	0.09507	934	0.15400	.;.;.;.	.	.	.	.	rs117823268	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010349	0.000000	0.012228	0.005319	0.000000	0.008621	0.006098	0.011364	0.05	1545.43	140	chr6	32349791	.	G	A	1545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.85;DP=542;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-3.358;SOR=0.932	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	9	0	1	0
chr6	32405014	32405014	C	T	exonic	BTNL2	.	nonsynonymous SNV	BTNL2:NM_001304561:exon2:c.G352A:p.D118N	.	421	1020	78	3	0	84	0.039548	.	.	.	3500764	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.474	.	0.0062	0.00439297	0.0111	0.0009	0.0104	0.0005	0.0005	0.0154	0.0206	0.0100	0.0101034	1562	154602	rs143211074	0.0082	0.0082	0.0077	0.0087	0.0579	0.0081	0.0080	0.0528	0.0508	0.0010	0.0129	0.1297	0.0002	0.0003	0.0579	0.0051	0.0175	0.0105	0.0095	0.0095	0.0091	0.0100	0.0184	0.0091	0.0090	0.0166	0.0159	0.0010	0.0351	0.0184	0.1454	0.0015	0.0005	0.0374	0.0069	0.0213	0.0101	0.018	0.50676	D	0.005	0.72224	D	0.17	0.28703	B	0.058	0.26451	B	0.000214	0.47681	D	0.000000	1	0.81001	D	3.75	0.95014	H	-2.3	0.87671	D	-3.92	0.73151	D	0.804	0.79986	-0.0913	0.80298	T	0.592	0.85408	D	10	0.0039207637	0.00075	T	.	.	.	0.474	0.76685	.	.	.	.	0.6442538995369435	0.64360	0.759485905604	0.64176	0.556377768517	0.46756	T	0.125532	0.45130	T	-0.236106	0.15849	T	-0.0983005	0.63528	T	0.0876847104608261	0.10940	T	.	.	.	0.47867396	0.65820	0.461523	0.68731	0.47867396	0.65821	0.461523	0.68731	-7.326	0.56380	T	.	.	0.168	0.37005	B	.;.	.;.	3.349719	0.46200	22.3	0.99564600918578816	0.72014	0.81899	0.41213	D	AEFDBI	0.519369	0.54468	D	0.0408323083134688	0.43721	2.659608	0.0114731822199794	0.40248	2.398883	0.443686818642509	0.20475	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	5.474000	0.66508	.	.	0.541000	0.25215	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:1.0:0.0:0.0	16.143	0.81356	934	0.15400	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	NOTCH4|AGER|AGER|NOTCH4|NOTCH4|AGER|AGER|AGER|HLA-DQA1|NOTCH4|AGER	Adipose_Visceral_Omentum|Artery_Aorta|Brain_Caudate_basal_ganglia|Breast_Mammary_Tissue|Muscle_Skeletal|Nerve_Tibial|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Whole_Blood	HLA-DQA1|HLA-DQA2	Ovary|Ovary	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.051198	0.025253	0.065217	0.031915	0.100000	0.094828	0.070122	0.034091	0.1	5601.12	34	chr6	32405014	.	C	T	5601.12	.	AC=2;AF=0.1;AN=20;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.19;SOR=0.788	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	9	1	0	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	103.43	127	chr6	32443853	.	C	G	103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.755;DP=1520;ExcessHet=0;FS=328.64;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.26;SOR=9.383	GT:AD:DP:GQ:PL	0/1:138,46:184:99:115,0,2800	9	0	1	0
chr6	32521967	32521967	G	0	exonic	HLA-DRB5	.	.	.	.	374	1006	44	2	96	144	0.023301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	673.9	287	chr6	32521967	.	G	*	673.9	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.54;DP=2106;ExcessHet=0.0405;FS=15.075;InbreedingCoeff=0.375;MLEAC=3;MLEAF=0.15;MQ=36.61;MQRankSum=-2.018;QD=1.8;ReadPosRankSum=-3.226;SOR=1.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:104,0:104:99:.:.:0,120,1800:.	8	1	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3419.5	287	chr6	32521970	.	G	*	3419.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=4.23;DP=2130;ExcessHet=7.0302;FS=3.886;InbreedingCoeff=-0.5385;MLEAC=4;MLEAF=0.2;MQ=55.93;MQRankSum=-7.81;QD=1.83;ReadPosRankSum=-7.2;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,50:114:99:0|1:32521957_G_A:1907,0,2537:32521957	6	0	4	0
chr6	32521972	32521972	G	0	exonic	HLA-DRB5	.	.	.	.	32	45	61	74	14	223	0.698997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	31062.1	286	chr6	32521972	.	G	*	31062.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.479;DP=2055;ExcessHet=0.2065;FS=8.28;InbreedingCoeff=0.2;MLEAC=3;MLEAF=0.15;MQ=52.88;MQRankSum=-7.035;QD=19.62;ReadPosRankSum=0.444;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:100:99:1|1:32521972_G_C:4366,4366,4366:32521972	8	1	1	0
chr6	32521974	32521975	GC	0	exonic	HLA-DRB5	.	.	.	.	23	1037	300	132	30	594	0.213798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	7781.7	277	chr6	32521974	.	GC	*	7781.7	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.78;DP=2002;ExcessHet=0.6204;FS=16.887;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.1;MQ=52.08;MQRankSum=-2.734;QD=9.01;ReadPosRankSum=-0.466;SOR=1.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:55,0:98:99:0|1:32521957_G_A:1640,1806,4115:32521957	9	1	0	0
chr6	32521977	32521978	TG	0	exonic	HLA-DRB5	.	.	.	.	68	790	259	133	272	797	0.249406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	17791.4	272	chr6	32521977	.	TG	*	17791.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=1990;ExcessHet=0.3701;FS=16.441;InbreedingCoeff=0.1667;MLEAC=2;MLEAF=0.1;MQ=51.31;MQRankSum=-2.903;QD=14.88;ReadPosRankSum=-0.428;SOR=1.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,51:92:99:0|1:32521957_G_A:3710,1638,1526:32521957	8	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7726.93	271	chr6	32521978	.	GT	*	7726.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=5.95;DP=2005;ExcessHet=7.0302;FS=9.754;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=54.56;MQRankSum=-6.638;QD=4.12;ReadPosRankSum=-4.747;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,51:92:99:1|1:32521957_G_A:2184,112,0:32521957	5	2	3	0
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14871.3	264	chr6	32521981	.	T	*	14871.3	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.364;DP=1956;ExcessHet=5.1594;FS=8.865;InbreedingCoeff=-0.4141;MLEAC=4;MLEAF=0.2;MQ=52.74;MQRankSum=-4.675;QD=7.98;ReadPosRankSum=-3.763;SOR=1.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:2,0:89:99:1|1:32521972_G_C:3779,3785,3869:32521972	6	0	4	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	15377.1	115	chr6	32522156	.	T	*	15377.1	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.669;DP=1176;ExcessHet=0;FS=2.933;MLEAC=1;MLEAF=0.063;MQ=50.23;MQRankSum=-13.56;QD=25.46;ReadPosRankSum=1.14;SOR=0.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:109:99:.:.:4577,4577,4577:.	7	0	1	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3048.87	115	chr6	32522157	.	C	*	3048.87	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.393;DP=1171;ExcessHet=0.0305;FS=0.797;MLEAC=2;MLEAF=0.125;MQ=51.64;MQRankSum=-3.602;QD=7.78;ReadPosRankSum=1.17;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:96,0:109:99:0|1:32522157_C_G:257,546,4577:32522157	6	0	2	2
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3006.87	115	chr6	32522159	.	T	*	3006.87	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.892;DP=1172;ExcessHet=0.0305;FS=0.382;MLEAC=2;MLEAF=0.125;MQ=51.61;MQRankSum=-3.602;QD=7.65;ReadPosRankSum=1.22;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:96,0:109:99:0|1:32522157_C_G:257,546,4577:32522157	6	0	2	2
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5589.66	111	chr6	32530183	.	CTT	*	5589.66	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.01;DP=932;ExcessHet=0.0059;FS=6.058;InbreedingCoeff=0.5776;MLEAC=2;MLEAF=0.1;MQ=51.24;MQRankSum=-5.677;QD=11.77;ReadPosRankSum=-1.394;SOR=1.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:103,0:103:99:.:.:0,120,1800:.	8	0	2	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28429.7	110	chr6	32530184	.	T	*	28429.7	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.814;DP=1127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=56.79;MQRankSum=-1.487;QD=26.57;ReadPosRankSum=-1.486;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:104:99:1|1:32530184_T_G:4614,4634,4706:32530184	4	4	2	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	33773.0	110	chr6	32530185	.	T	*	33773.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.232;DP=1115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=8;MLEAF=0.4;MQ=56.87;MQRankSum=-1.487;QD=31.5;ReadPosRankSum=-1.623;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:104:99:1|1:32530184_T_G:4614,4628,4725:32530184	5	3	2	0
chr6	32580272	32580272	T	C	splicing	HLA-DRB1	NM_001243965:exon7:c.737-2A>G;NM_002124:exon5:c.764-2A>G	.	.	.	45	1469	6	2	0	10	0.00339213	0.9999	0.734	YES	3225348	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0003	0.0006	0.0009	0	0.0010	0.0015	0.0002	0.0001537	4	26028	rs756519999	7.434e-06	0.0001	6.525e-06	8.301e-06	0.0003	3.09e-06	1.99e-06	.	.	0	0	0	0	8.718e-05	0.0003	1.472e-06	0	1.443e-05	1.84e-05	0.0002	0	3.79e-05	3.977e-05	3.06e-06	1.14e-06	6.59e-06	2.47e-06	0	0	0	0	0	0	0	3.977e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.190081	0.22246	T	-0.510815	0.21232	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.437851	0.90896	32	0.85149035426513187	0.15715	0.64364	0.32383	D	AEFBCI	.	.	.	0.580347858300031	0.71948	5.729366	0.300592803444116	0.55574	3.720369	0.399600310485906	0.20119	0.256867	0.04430	0	0.271743	0.05004	0	0.091713	0.02954	0	0.058706	0.01089	0	0.110662	0.23644	4.1	2.93	0.33092	3.342000	0.51877	.	.	0.478000	0.22058	0.985000	0.35982	0.128000	0.22971	0.049000	0.15107	0.0:0.116:0.0:0.884	6.479	0.21252	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1325.05	198	chr6	32580272	.	T	C	1325.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.34;DP=1138;ExcessHet=0;FS=3.223;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=39.74;MQRankSum=0.203;QD=27.61;ReadPosRankSum=2.01;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:101,0:101:0:.:.:0,0,2113:.	8	0	1	1
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	13132.2	287	chr6	32581836	.	G	A	13132.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.499;DP=3426;ExcessHet=0.7463;FS=1.28;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=56.65;MQRankSum=-9.658;QD=9.75;ReadPosRankSum=1.18;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:302,0:302:99:.:.:0,120,1800:.	9	0	1	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5657.87	185	chr6	32584171	.	G	*	5657.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.372;DP=1605;ExcessHet=0.3701;FS=1.544;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=50.25;MQRankSum=4.49;QD=5.63;ReadPosRankSum=5.41;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,94:189:99:0|1:32584151_G_A:3724,0,1985:32584151	5	1	4	0
chr6	32584175	32584176	CC	-	exonic	HLA-DRB1	.	frameshift deletion	HLA-DRB1:NM_002124:exon2:c.303_304del:p.A102Rfs*25	.	207	1300	14	1	0	16	0.00611621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0008	0	5.464e-05	0	0.0002	0.0010758	28	26028	rs67187877	0.0015	0.0041	0.0014	0.0017	0.0069	0.0015	0.0014	0.0061	0.0058	0.0031	0.0013	0.0045	0.0069	0.0014	0.0011	0.0010	0.0026	0.0033	0.0019	0.0081	0.0019	0.0019	0.0047	0.0017	0.0016	0.0028	0.0023	0.0032	0	0.0024	0.0041	0.0047	0.0008	0.0074	0.0011	0.0018	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	418.39	183	chr6	32584174	.	GCC	G	418.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=1617;ExcessHet=0;FS=7.867;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.84;MQRankSum=-2.287;QD=2.25;ReadPosRankSum=-5.141;SOR=1.553	GT:AD:DP:GQ:PL	0/0:184,0:184:99:0,120,1800	9	0	1	0
chr6	32584176	32584178	CCG	0	exonic	HLA-DRB1	.	.	.	.	22	858	448	187	7	829	0.323877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	7112.63	183	chr6	32584176	.	CCG	*	7112.63	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.127;DP=1737;ExcessHet=2.8389;FS=10.137;InbreedingCoeff=-0.3793;MLEAC=1;MLEAF=0.056;MQ=50.65;MQRankSum=2.57;QD=8.2;ReadPosRankSum=3.93;SOR=0.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:166,0:207:99:0|1:32584151_G_A:1222,1722,8692:32584151	8	0	1	1
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	26398.6	196	chr6	32584177	.	CG	*	26398.6	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1758;ExcessHet=0.0657;FS=0.744;InbreedingCoeff=0.3939;MLEAC=3;MLEAF=0.15;MQ=51.98;MQRankSum=3.87;QD=25.38;ReadPosRankSum=2.53;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:66,41:206:99:0|1:32584162_G_T:3811,2311,5084:32584162	7	0	3	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	2923.01	196	chr6	32584178	.	G	*	2923.01	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.57;DP=1798;ExcessHet=0.3131;FS=0;InbreedingCoeff=0.2;MLEAC=9;MLEAF=0.45;MQ=55.21;MQRankSum=-7.546;QD=2.67;ReadPosRankSum=-1.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,99:206:99:0|1:32584162_G_T:3811,0,2296:32584162	4	3	3	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1394.62	202	chr6	32584184	.	G	*	1394.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.01;DP=1914;ExcessHet=0.7463;FS=3.134;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.056;MQ=52.33;MQRankSum=-1.069;QD=2.23;ReadPosRankSum=-5.166;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:215,0:215:99:.:.:0,120,1800:.	8	0	1	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1378.62	202	chr6	32584185	.	C	*	1378.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.35;DP=1923;ExcessHet=0.7463;FS=3.151;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.056;MQ=52.42;MQRankSum=-1.211;QD=2.19;ReadPosRankSum=-5.312;SOR=1.004	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:215,0:215:99:.:.:0,120,1800:.	8	0	1	1
chr6	32584280	32584280	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G199C:p.V67L	.	1	1389	105	1	26	133	0.0370884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	.	.	0.0204	0.0214	0.0272	0.0104	0.0245	0.0234	0.0154	0.0068	0.0077993	203	26028	rs17878614	0.0002	0.0028	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	4.679e-05	0	5.842e-05	0.0003	0	0.0003	0.0002	1.237e-05	0.0003	0.0034	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0004	0	0.0005	0.0004	0	0.0004	0	0	0.226	0.18562	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.839475	0.06991	N	1.086700	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.68	0.40082	N	0.034	0.00942	-0.9628	0.38645	T	0.000	0.00039	T	10	0.0073911548	0.00168	T	.	.	.	0.344	0.66582	0.357	0.35897	.	.	0.2725535461198692	0.27168	0.70435521742	0.61311	.	.	.	0.017737	0.14423	T	-0.487391	0.00672	T	-0.472202	0.25279	T	0.01040418298686	0.00143	T	0.0464954	0.00331	T	0.43241236	0.62909	0.15221174	0.35821	0.43241236	0.62910	0.15221174	0.35820	-5.471	0.41596	T	.	.	0.165	0.36375	B	.	.	-0.978415	0.00802	0.026	0.41590716082416673	0.03011	0.01461	0.04883	N	AEFDGBCIJ	0.181378	0.30869	N	-2.69307713427383	0.00005	0.0002449113	-2.79087809953605	0.00004	0.0002126685	0.999999999857912	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	-7.04	0.01423	-2.303000	0.01216	.	.	-4.118000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.2042:0.3874:0.212	2.062	0.03376	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.083246	0.121212	0.117166	0.037037	0.100000	0.087719	0.060976	0.041985	0.15	10222.5	423	chr6	32584280	.	C	G	10222.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.414;DP=3898;ExcessHet=0.7463;FS=0.606;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=56.24;MQRankSum=0.958;QD=7.05;ReadPosRankSum=0.636;SOR=0.721	GT:AD:DP:GQ:PL	0/0:340,0:340:99:0,120,1800	7	0	3	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,62:118:99:.:.:5225,2369,2165:.	3	0	7	0
chr6	32589652	32589652	C	T	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.G91A:p.D31N	.	1	1468	50	3	0	56	0.0187166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00201232087945	0.0001	0.000199681	0.0005	0.0001	0.0004	0.0004	0	9.232e-05	0	0.0026	0.0003687	57	154602	rs372634318	0.0004	0.0003	0.0002	0.0005	0.0166	0.0003	0.0003	0.0126	0.0112	0	0.0001	0	0.0004	2.422e-05	0.0166	2.577e-05	0.0005	0.0045	0.0001	0.0001	1.844e-05	0.0002	0.0037	7.345e-05	5.846e-05	0.0020	0.0015	0	0	0	0	0.0003	0	0	4.035e-05	0	0.0037	0.0	0.91255	D	0.071	0.43531	T	0.987	0.61912	D	0.914	0.64984	D	0.396439	0.04508	N	1.376800	1	0.08975	N	.	.	.	8.35	0.00252	T	-1.93	0.44852	N	0.438	0.47672	-0.8790	0.49840	T	0.001	0.00255	T	10	0.017746776	0.00381	T	0.002012	0.03642	T	0.089	0.25827	.	.	0.447901950027	0.44410	0.15851251124645957	0.15772	0.75651630784	0.64033	.	.	.	0.012023	0.10639	T	-0.46956	0.00855	T	-0.451571	0.27523	T	0.173749442671835	0.18832	T	0.757524	0.38090	T	0.31595802	0.54297	0.2519697	0.50818	0.31595802	0.54297	0.2519697	0.50817	-7.629	0.58513	D	.	.	0.100	0.16929	B	.	.	3.743977	0.53625	23.4	0.99823868945339478	0.90677	0.07660	0.13666	N	ALL	0.253131	0.37268	N	0.00761355807847777	0.42201	2.538276	-0.200087543572262	0.31534	1.785499	0.999999814549714	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.53	0.29594	0.909000	0.28180	.	.	0.595000	0.32841	0.785000	0.29533	0.000000	0.08366	0.010000	0.09038	0.0:0.7072:0.1881:0.1047	6.172	0.19638	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005371	0.000000	0.000000	0.031250	0.000000	0.000000	0.000000	0.011450	0.05	4030.43	162	chr6	32589652	.	C	T	4030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.648;DP=1635;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.25;MQRankSum=13;QD=20.78;ReadPosRankSum=0.171;SOR=0.693	GT:AD:DP:GQ:PL	0/0:160,0:160:99:0,120,1800	9	0	1	0
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016507	0.035354	0.010870	0.034188	0.050000	0.000000	0.021341	0.007576	0.1	3008.14	164	chr6	32589684	.	A	G	3008.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.962;DP=1899;ExcessHet=0.2348;FS=0.674;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=48.1;MQRankSum=-0.036;QD=5.54;ReadPosRankSum=1.15;SOR=0.828	GT:AD:DP:GQ:PL	0/1:172,37:209:99:1036,0,7086	8	0	2	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3665.7	286	chr6	32641444	.	G	*	3665.7	.	AC=8;AF=0.4;AN=20;DP=1693;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.37;QD=3.34;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,78:121:99:0|1:32641436_G_A:5081,1806,1571:32641436	4	2	4	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3623.7	286	chr6	32641445	.	A	*	3623.7	.	AC=8;AF=0.4;AN=20;DP=1691;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.52;QD=3.31;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,77:120:99:0|1:32641436_G_A:5039,1806,1574:32641436	4	2	4	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641462	.	G	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1723;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.07;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,73:118:99:0|1:32641436_G_A:5225,1907,1670:32641436	5	2	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641464	.	T	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1725;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.12;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,73:118:99:0|1:32641436_G_A:5270,1910,1670:32641436	5	2	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7913.28	297	chr6	32641501	.	G	*	7913.28	.	AC=7;AF=0.35;AN=20;DP=1762;ExcessHet=0.0059;FS=1.741;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.11;QD=8.07;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,57:135:99:0|1:32641501_G_*:5759,3282,3104:32641501	5	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7853.28	315	chr6	32641522	.	A	*	7853.28	.	AC=7;AF=0.35;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,49:143:99:0|1:32641501_G_*:6626,3996,3793:32641501	5	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	7853.28	315	chr6	32641522	.	A	G	7853.28	.	AC=3;AF=0.15;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=3;MLEAF=0.15;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,94:143:99:0|1:32641501_G_*:6626,2112,1775:32641501	8	1	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	36210.8	168	chr6	32664917	.	C	A	36210.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=5.83;DP=2277;ExcessHet=0.0059;FS=2.897;InbreedingCoeff=0.6;MLEAC=4;MLEAF=0.2;MQ=59.06;MQRankSum=-1.713;QD=31.22;ReadPosRankSum=1.13;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,23:136:99:.:.:5756,4702,4620:.	6	0	4	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	3476.57	175	chr6	32664926	.	G	A	3476.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=7.2;DP=2299;ExcessHet=1.5895;FS=1.445;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.12;MQRankSum=-7.617;QD=5.29;ReadPosRankSum=-3.501;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,33:145:99:0|1:32664926_G_A:1049,0,4604:32664926	6	0	4	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	24716.5	74	chr6	32666525	.	A	*	24716.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.75;DP=862;ExcessHet=0.2348;FS=0.765;InbreedingCoeff=-0.1111;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=28.91;ReadPosRankSum=0.933;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,29:52:99:.:.:2229,902,803:.	7	1	2	0
chr6	32829996	32829996	T	C	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon10:c.A1729G:p.M577V,TAP2:NM_018833:exon10:c.A1729G:p.M577V	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	1	1499	20	2	0	24	0.00794176	.	.	.	1155335	MHC_class_I_deficiency	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.245	.	0.0008	0.0301518	0.0135	0.0012	0.0005	0.0914	0.0002	0.0006	0.0229	0.0440	0.0119468	1847	154602	rs2228391	0.0054	0.0054	0.0043	0.0065	0.0808	0.0053	0.0053	0.0785	0.0775	0.0010	0.0004	0.0003	0.0808	7.64e-05	0.0040	0.0004	0.0083	0.0427	0.0055	0.0055	0.0040	0.0071	0.0948	0.0052	0.0051	0.0879	0.0851	0.0007	0	0.0005	0.0012	0.0948	0	0.0034	0.0004	0.0080	0.0532	0.798	0.18122	T	0.59	0.12037	T	0.003	0.11197	B	0.007	0.12992	B	0.420975	0.12871	N	0.701585	.	.	.	-0.655	0.02084	N	-2.56	0.89627	D	-0.38	0.13805	N	0.035	0.01004	-1.0652	0.10502	T	0.177	0.52146	T	9	0.0018317103	0.00024	T	.	.	.	0.245	0.55201	.	.	.	.	0.39621706378244653	0.39536	0.463953477707	0.45884	0.289935529232	0.08913	T	0.194478	0.55027	T	-0.443903	0.01227	T	-0.33566	0.40836	T	0.00255174892571557	0.00027	T	0.455254	0.13018	T	0.050581872	0.09161	0.10338751	0.24805	0.050581872	0.09161	0.10338751	0.24804	-4.227	0.28816	T	.	.	0.101	0.17402	B	.;.;.;.	.;.;.;.	-0.409092	0.02180	0.214	0.55239157411957363	0.05301	0.18226	0.20172	N	AEFBI	0.087900	0.17821	N	-1.27513763532247	0.03977	0.1786684	-1.27220721765469	0.04810	0.2277881	0.999976508814831	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.17	-4.93	0.02839	-1.770000	0.01889	.	.	-0.155000	0.11859	0.000000	0.06391	0.000000	0.08366	0.184000	0.21420	0.0:0.0745:0.6262:0.2994	11.115	0.47476	934	0.15400	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	rs2228391	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009259	0.000000	0.004076	0.005319	0.050000	0.000000	0.003049	0.018939	0.05	1500.43	35	chr6	32829996	.	T	C	1500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.118;DP=568;ExcessHet=0;FS=1.335;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.192;SOR=0.62	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	9	0	1	0
chr6	32838190	32838190	A	G	exonic	TAP2	.	nonsynonymous SNV	TAP2:NM_001290043:exon2:c.T44C:p.V15A,TAP2:NM_018833:exon2:c.T44C:p.V15A	Bare lymphocyte syndrome, type I, due to TAP2 deficiency, Autosomal recessive;Wegener-like granulomatosis (3)	3	1475	43	1	0	45	0.015025	.	.	.	363959	MHC_class_I_deficiency|not_provided	MONDO:MONDO:0011476,MedGen:C1858266,OMIM:PS604571,Orphanet:34592|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.375	.	0.0096	0.00878594	0.0051	0.0232	0.0020	0.0011	0.0003	0.0014	0.0038	0.0188	0.0044307	685	154602	rs55827768	0.0027	0.0027	0.0023	0.0031	0.0239	0.0026	0.0026	0.0225	0.0219	0.0239	0.0025	0.0003	0.0009	7.746e-05	0.0176	0.0013	0.0034	0.0149	0.0079	0.0080	0.0077	0.0080	0.0222	0.0075	0.0074	0.0210	0.0205	0.0222	0	0.0034	0.0003	0.0016	0	0.0205	0.0020	0.0087	0.0135	0.156	0.24090	T	0.607	0.07919	T	0.0	0.02946	B	0.0	0.01387	B	0.029026	0.01695	N	2.963350	.	.	.	-1.09	0.01018	N	-0.17	0.89430	T	-0.55	0.17624	N	0.058	0.03283	-0.8422	0.52500	T	0.106	0.38661	T	9	0.0048670173	0.00104	T	.	.	.	0.375	0.69358	.	.	0.12205267543	0.11705	0.3536502454149823	0.35279	0.544725754754	0.51518	0.561443984509	0.47472	T	0.050885	0.28723	T	-0.330553	0.06070	T	-0.230008	0.51771	T	0.00156613741159322	0.00016	T	0.591441	0.21800	T	0.02480374	0.01349	0.09237375	0.21765	0.02480374	0.01349	0.09237375	0.21765	-3.706	0.19791	T	.	.	0.061	0.01309	B	.;.;.;.	.;.;.;.	0.986896	0.13646	10.18	0.52241751892269228	0.04711	0.02510	0.07004	N	AEFDGBHCI	0.027632	0.02291	N	-1.91220650019428	0.00324	0.0139159	-1.89227232899798	0.00507	0.02247004	0.999999999999994	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.9	-6.99	0.01449	0.127000	0.15617	.	.	-0.720000	0.03816	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.1696:0.2447:0.5857:0.0	9.966	0.40894	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.020697	0.010101	0.033967	0.015957	0.050000	0.008772	0.006098	0.015152	0.05	363.43	37	chr6	32838190	.	A	G	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=324;ExcessHet=0;FS=1.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.53;SOR=0.657	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,525	9	0	1	0
chr6	32843017	32843017	T	A	exonic	PSMB8	.	nonsynonymous SNV	PSMB8:NM_004159:exon2:c.A208T:p.T70S,PSMB8:NM_148919:exon2:c.A220T:p.T74S	Autoinflammation, lipodystrophy, and dermatosis syndrome, Autosomal recessive	0	1475	46	1	0	48	0.0160107	.	.	.	455616	not_provided|Proteasome-associated_autoinflammatory_syndrome_1|Proteosome-associated_autoinflammatory_syndrome|not_specified|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0054698,MedGen:C4746851,OMIM:256040,Orphanet:2615,Orphanet:324977,Orphanet:324999,Orphanet:325004|MONDO:MONDO:0009726,MedGen:C1850568,OMIM:PS256040,Orphanet:324977|MedGen:CN169374|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.643	.	0.0092	0.00838658	0.0050	0.0216	0.0018	0.0011	0.0003	0.0013	0.0046	0.0160	0.0042626	659	154602	rs17220206	0.0027	0.0027	0.0023	0.0030	0.0214	0.0026	0.0026	0.0201	0.0196	0.0214	0.0023	0.0003	0.0009	5.734e-05	0.0166	0.0013	0.0035	0.0150	0.0075	0.0075	0.0074	0.0076	0.0206	0.0071	0.0070	0.0195	0.0190	0.0206	0	0.0034	0.0003	0.0015	0	0.0204	0.0020	0.0081	0.0133	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.605	0.76211	M	0.59	0.53943	T	-3.53	0.69477	D	0.858	0.85449	-0.0332	0.81562	T	0.384	0.73988	T	10	0.017019004	0.00361	T	.	.	.	0.643	0.86435	0.89	0.97320	0.885233339979	0.88410	0.8480556800380565	0.84766	1.4400113835	0.85953	0.61978495121	0.55699	T	0.246082	0.62314	T	-0.319012	0.06978	T	-0.214759	0.53240	T	0.0301341989451897	0.02010	T	.	.	.	0.68950045	0.77485	0.583038	0.75826	0.83828247	0.86487	0.6417363	0.79067	-7.497	0.58450	T	.	.	0.661	0.75421	P	.;.;.	.;.;.	4.690035	0.75145	26.3	0.99768579147479963	0.85666	0.97844	0.77553	D	AEFDBHCI	0.893998	0.83252	D	0.936276874824718	0.93419	12.028	0.879112616932269	0.94596	12.88621	0.99999999999936	0.74766	0.740716	0.97744	0	0.672317	0.65289	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	7.197000	0.77336	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	14.295	0.65858	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019063	0.010101	0.031250	0.010638	0.050000	0.008621	0.006098	0.015152	0.05	2304.43	38	chr6	32843017	.	T	A	2304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=486;ExcessHet=0;FS=2.963;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=-1.342;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1293:.	9	0	1	0
chr6	32949349	32949349	C	T	exonic	HLA-DMA	.	nonsynonymous SNV	HLA-DMA:NM_006120:exon4:c.G703A:p.V235M	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00707549986515	0.0017	0.00219649	0.0006	0.0046	0.0002	0.0001	0	0.0001	0.0011	0.0006	0.0006598	102	154602	rs9469319	0.0003	0.0003	0.0003	0.0003	0.0053	0.0003	0.0003	0.0047	0.0045	0.0053	0.0006	3.826e-05	0.0004	0	0.0024	0.0001	0.0011	0.0005	0.0015	0.0015	0.0015	0.0015	0.0047	0.0013	0.0013	0.0041	0.0039	0.0047	0	0.0009	0	0.0004	0	0	0.0002	0.0014	0.0002	0.002	0.72154	D	0.014	0.62352	D	.	.	.	.	.	.	0.918117	0.08506	N	0.963671	1	0.08975	N	.	.	.	5.12	0.01834	T	-0.11	0.13418	N	0.168	0.19055	-0.9486	0.41211	T	0.002	0.00769	T	10	0.011315972	0.00248	T	0.007075	0.18731	T	0.114	0.32008	.	.	0.0934897674506	0.08844	0.16096493968989228	0.16017	0.455336869801	0.45209	0.400196969509	0.25096	T	0.010105	0.13724	T	-0.523085	0.00422	T	-0.522647	0.20027	T	0.0397049656127593	0.03637	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.32898	B	.;.;.;.	.;.;.;.	-0.317816	0.02540	0.305	0.98377175116935311	0.40812	0.01773	0.05562	N	AEFDBHCI	0.095444	0.19284	N	-0.524095506574461	0.21304	1.129548	-0.724859779504405	0.16343	0.8640911	0.999999606060052	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.0	-2.84	0.05408	-1.927000	0.01652	.	.	-0.885000	0.02425	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.127:0.2689:0.2786:0.3255	1.242	0.01846	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005447	0.000000	0.012228	0.005319	0.000000	0.008621	0.000000	0.000000	0.05	1727.43	35	chr6	32949349	.	C	T	1727.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.496;DP=473;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.857;SOR=0.747	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	9	0	1	0
chr6	32976813	32976813	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon6:c.G1077C:p.E359D,BRD2:NM_001199456:exon6:c.G936C:p.E312D,BRD2:NM_001113182:exon7:c.G1077C:p.E359D,BRD2:NM_005104:exon7:c.G1077C:p.E359D,BRD2:NM_001291986:exon8:c.G717C:p.E239D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00495405745945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.37118	T	0.074	0.50809	T	0.859	0.47319	P	0.583	0.50264	P	0.000100	0.51296	D	0.000000	0.999954	0.52396	D	1.39	0.34934	L	1.69	0.27032	T	-2.46	0.54382	N	0.374	0.41656	-0.9159	0.46103	T	0.139	0.45791	T	10	0.7555315	0.75953	D	0.004954	0.12473	T	0.214	0.50650	0.764	0.89213	0.795092722254	0.79318	0.38390423038742355	0.38305	.	.	0.88716673851	0.94903	D	0.25597	0.62682	T	-0.0318077	0.47154	T	-0.283466	0.46448	T	0.861240744590759	0.51164	D	0.932807	0.74830	D	0.2851387	0.51537	0.24049516	0.49424	0.2851387	0.51536	0.24049516	0.49423	-8.011	0.62707	D	.	.	0.316	0.68110	B	.;.;.;.;.	.;.;.;.;.	1.317149	0.17209	13.02	0.99724235207631218	0.82266	0.64946	0.32573	D	AEFBHCI	0.651563	0.62527	D	-0.254297126603731	0.30933	1.729516	-0.327949304023803	0.27200	1.507636	0.999993130444119	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.08	-0.139	0.12803	0.063000	0.14285	.	.	-0.748000	0.03609	0.005000	0.17040	0.997000	0.33255	0.984000	0.60418	0.4072:0.0:0.5928:0.0	9.394	0.37553	906	0.23090	Bromodomain|Bromodomain;Bromodomain|Bromodomain;Bromodomain|Bromodomain;.;Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1057.03	121	chr6	32976813	.	G	C	1057.03	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.921;DP=1348;ExcessHet=4.5998;FS=168.259;InbreedingCoeff=-0.4406;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=1.24;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:105,1:124:2:.:.:2,207,3678:.	7	0	2	1
chr6	32978342	32978342	G	C	exonic	BRD2	.	nonsynonymous SNV	BRD2:NM_001199455:exon9:c.G1795C:p.A599P,BRD2:NM_001199456:exon9:c.G1654C:p.A552P,BRD2:NM_001113182:exon10:c.G1795C:p.A599P,BRD2:NM_005104:exon10:c.G1795C:p.A599P,BRD2:NM_001291986:exon11:c.G1435C:p.A479P	.	427	1078	17	0	0	17	0.00782329	.	.	.	721981	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.113	0.00574968967502	0.0023	0.00339457	0.0042	0.0006	0.0025	0.0004	0.0006	0.0043	0.0058	0.0099	0.0037645	582	154602	rs55952113	0.0032	0.0032	0.0029	0.0034	0.0151	0.0031	0.0031	0.0125	0.0116	0.0020	0.0036	0.0081	0.0001	0.0003	0.0151	0.0027	0.0039	0.0095	0.0028	0.0028	0.0027	0.0030	0.0087	0.0026	0.0025	0.0066	0.0059	0.0009	0	0.0044	0.0060	0.0006	0.0006	0.0034	0.0035	0.0052	0.0087	0.289	0.19710	T	0.358	0.19782	T	0.0	0.02946	B	0.0	0.01387	B	0.026805	0.25858	N	0.278296	0.99981	0.21009	N	0.895	0.22405	L	1.87	0.24085	T	-0.26	0.11185	N	0.324	0.41459	-0.9882	0.33052	T	0.015	0.06282	T	10	0.0055013	0.00121	T	0.00575	0.14922	T	0.113	0.31778	.	.	0.355073828461	0.35122	0.2730421699646963	0.27217	.	.	0.47374778986	0.35196	T	0.087464	0.37947	T	-0.495672	0.00605	T	-0.477668	0.24694	T	0.0175955488927625	0.00492	T	.	.	.	0.07003551	0.15394	0.12965465	0.31171	0.07003551	0.15394	0.12965465	0.31170	-4.476	0.30573	T	.	.	0.074	0.08512	B	.;.;.;.	.;.;.;.	2.931798	0.38952	20.9	0.99319286333896173	0.59317	0.94260	0.60603	D	AEFDBHCI	0.734603	0.68068	D	-0.380615256448882	0.26160	1.425612	-0.208433691736089	0.31232	1.76561	0.999999889662531	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	3.56	0.39892	2.995000	0.49129	.	.	-0.165000	0.11486	0.681000	0.28448	0.775000	0.26732	0.894000	0.43146	0.1846:0.1759:0.6395:0.0	4.976	0.13489	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010893	0.005051	0.017663	0.010638	0.000000	0.000000	0.009146	0.003788	0.05	348.43	54	chr6	32978342	.	G	C	348.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.953;DP=450;ExcessHet=0;FS=1.027;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=-0.618;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1208	9	0	1	0
chr6	33080902	33080902	G	C	exonic	HLA-DPB1	.	nonsynonymous SNV	HLA-DPB1:NM_002121:exon2:c.G331C:p.E111Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00394829978397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.16738	T	0.478	0.12281	T	1.0	0.90584	D	0.992	0.80445	D	0.475510	0.04950	U	1.321060	0.998977	0.21747	N	1.405	0.35469	L	8.39	0.00243	T	-0.54	0.16598	N	0.335	0.37613	-0.9219	0.45293	T	0.000	0.00152	T	10	0.12541875	0.23833	T	0.003948	0.09337	T	0.170	0.43303	0.309	0.28128	0.195762928549	0.19159	0.503837808281476	0.50305	1.80813242872	0.91769	0.263139605522	0.05270	T	0.012901	0.11259	T	-0.110923	0.34616	T	-0.397109	0.33722	T	0.280914122235491	0.24210	T	.	.	.	0.52690136	0.68654	0.12428027	0.29958	0.52690136	0.68655	0.12428027	0.29958	-6.018	0.46431	T	.	.	0.105	0.26200	B	.;.	.;.	1.564277	0.20031	14.56	0.98873389142757495	0.47684	0.14927	0.18657	N	AEFDBHCI	0.456775	0.50850	N	-0.134687139633227	0.35889	2.067201	-0.327595041475623	0.27210	1.508326	0.999999622598305	0.74766	0.789315	0.99827	0	0.672317	0.65289	0	0.768056	0.98339	0	0.372554	0.06265	0	.	.	3.7	2.82	0.32061	0.120000	0.15476	-5.432000	0.01720	0.605000	0.46263	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.1166:0.2102:0.6732:0.0	5.252	0.14845	856	0.34373	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	47.43	73	chr6	33080902	.	G	C	47.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=537;ExcessHet=0;FS=10.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.82;MQRankSum=-7.319;QD=0.86;ReadPosRankSum=-1.115;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,5:55:59:0|1:33080860_G_A:59,0,2084:33080860	9	0	1	0
chr6	33202607	33202607	A	C	exonic	SLC39A7	.	nonsynonymous SNV	SLC39A7:NM_006979:exon5:c.A847C:p.T283P,SLC39A7:NM_001077516:exon6:c.A847C:p.T283P,SLC39A7:NM_001288777:exon6:c.A472C:p.T158P	.	420	1092	9	1	0	11	0.00501139	.	.	.	1630800	SLC39A7-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.046	0.0123859445039	0.0003	0.000199681	0.0009	0	0.0010	0.0001	0	0.0004	0.0012	0.0043	0.0007438	115	154602	rs200100279	0.0005	0.0005	0.0004	0.0006	0.0116	0.0005	0.0004	0.0094	0.0086	3.008e-05	0.0013	0.0002	0.0002	3.825e-05	0.0116	0.0001	0.0008	0.0043	0.0004	0.0004	0.0003	0.0005	0.0031	0.0003	0.0003	0.0019	0.0015	0	0	0.0011	0	0	0	0.0034	0.0003	0.0033	0.0031	0.152	0.24468	T	0.211	0.26631	T	0.291	0.32334	B	0.206	0.37138	B	0.390139	0.04472	N	1.504780	1	0.08975	N	0.74	0.18910	N	0.47	0.56114	T	-1.52	0.36980	N	0.081	0.06059	-1.0562	0.12724	T	0.037	0.15813	T	10	0.0029443204	0.00048	T	0.012386	0.30920	T	0.046	0.12618	.	.	0.181679512989	0.17746	0.3987670462340173	0.39791	0.585093526498	0.54164	0.29743885994	0.10020	T	0.01787	0.14505	T	-0.469437	0.00857	T	-0.447372	0.27988	T	0.00632671245989026	0.00070	T	.	.	.	0.17978448	0.39066	0.28065246	0.54042	0.17978448	0.39066	0.28065246	0.54041	-3.664	0.18788	T	.	.	0.075	0.05711	B	.;.;.	.;.;.	1.016342	0.13959	10.52	0.59485281858266892	0.06235	0.08472	0.14396	N	AEFBCI	0.453989	0.50689	N	-1.2713900618172	0.04024	0.1808677	-1.3106240286889	0.04292	0.2021316	0.999993637063277	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.63	-1.59	0.08003	0.220000	0.17445	1.666000	0.27927	-0.156000	0.11795	0.002000	0.15269	0.986000	0.30841	0.588000	0.31090	0.6173:0.0:0.3827:0.0	8.483	0.32212	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004357	0.000000	0.004076	0.021277	0.050000	0.017544	0.000000	0.000000	0.1	2310.14	39	chr6	33202607	.	A	C	2310.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.995;DP=506;ExcessHet=0.2348;FS=2.499;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.73;SOR=0.847	GT:AD:DP:GQ:PL	0/1:56,42:98:99:1054,0,1668	8	0	2	0
chr6	33288380	33288380	G	C	exonic	WDR46	.	nonsynonymous SNV	WDR46:NM_001164267:exon4:c.C289G:p.L97V,WDR46:NM_005452:exon4:c.C451G:p.L151V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00969527678628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.217	0.26145	T	0.78	0.44271	P	0.376	0.43735	B	0.000053	0.53742	D	0.076891	0.99952	0.47407	D	2.255	0.64187	M	2.0	0.25344	T	-0.58	0.17417	N	0.495	0.52829	-1.0724	0.08894	T	0.024	0.10194	T	10	0.18552846	0.33977	T	0.009695	0.25313	T	0.045	0.12272	0.335	0.32329	0.207176502487	0.20327	0.4437816797483691	0.44296	0.821013758435	0.67169	0.51201415062	0.40504	T	0.016969	0.13928	T	-0.133608	0.30912	T	-0.429695	0.29969	T	0.805304646492004	0.46718	D	0.877212	0.76932	D	0.07712438	0.17484	0.07039363	0.14949	0.07712438	0.17484	0.07039363	0.14949	-2.68	0.07136	T	.	.	0.099	0.17189	B	.;.	.;.	2.602013	0.33775	19.44	0.9957433894419544	0.72621	0.89632	0.50221	D	AEFBCI	0.358318	0.44903	N	-0.0443095283566678	0.39858	2.357332	-0.0382030584613099	0.38006	2.233025	0.999805241624929	0.43304	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	4.39	1.48	0.21900	2.244000	0.42775	2.153000	0.30925	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.978000	0.57271	0.3048:0.0:0.6952:0.0	7.157	0.24821	658	0.62094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1990.43	95	chr6	33288380	.	G	C	1990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.502;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.467;SOR=0.726	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	9	0	1	0
chr6	33320019	33320019	G	C	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon4:c.C1232G:p.A411G,DAXX:NM_001141969:exon5:c.C1457G:p.A486G,DAXX:NM_001141970:exon5:c.C1493G:p.A498G,DAXX:NM_001350:exon5:c.C1457G:p.A486G	.	391	1087	42	2	0	46	0.0207207	.	.	.	721989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.007	.	0.0068	0.00858626	0.0093	0.0017	0.0040	0.0069	0.0020	0.0096	0.0113	0.0208	0.0014553	225	154602	rs146304558	0.0086	0.0086	0.0082	0.0091	0.0195	0.0085	0.0085	0.0187	0.0184	0.0015	0.0041	0.0211	0.0028	0.0015	0.0147	0.0085	0.0079	0.0195	0.0061	0.0061	0.0065	0.0056	0.0195	0.0057	0.0056	0.0163	0.0151	0.0014	0	0.0045	0.0193	0.0035	0.0020	0.0102	0.0085	0.0066	0.0195	0.119	0.28520	T	0.26	0.25061	T	0.033	0.20350	B	0.036	0.22909	B	0.016189	0.01435	N	2.621750	1	0.08975	N	0.69	0.16971	N	3.55	0.04746	T	-0.06	0.07882	N	0.184	0.20793	-0.9107	0.46768	T	0.003	0.00864	T	10	0.0019952655	0.00028	T	.	.	.	0.007	0.00512	.	.	0.248133497653	0.24425	0.027666118405061925	0.02716	0.121482305257	0.13691	0.293815732002	0.09482	T	0.228165	0.59364	T	-0.661	0.00062	T	-0.706662	0.05469	T	0.000391966671527189	0.00003	T	.	.	.	0.034339648	0.03834	0.07082536	0.15094	0.05050827	0.09134	0.07082536	0.15093	-3.71	0.20969	T	.	.	0.082	0.13737	B	.;.;.;.	.;.;.;.	1.618229	0.20675	14.86	0.62516084524372117	0.06983	0.23889	0.22220	N	AEFGBHCI	0.064341	0.12488	N	-1.30553392466674	0.03611	0.1616189	-1.30836099513516	0.04321	0.203565	0.999932882190131	0.46732	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635259	0.50027	0	.	.	4.03	-1.84	0.07387	0.387000	0.20445	0.426000	0.18273	0.650000	0.52971	0.271000	0.25055	0.184000	0.23444	0.944000	0.48669	0.1501:0.0:0.4955:0.3544	6.405	0.20865	587	0.69154	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019063	0.025253	0.025815	0.005319	0.050000	0.008621	0.012195	0.003788	0.05	753.43	39	chr6	33320019	.	G	C	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.134;DP=432;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=0.768;SOR=0.875	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr6	33404029	33404029	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G656A:p.R219Q	.	412	1067	42	1	0	44	0.020202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	0.0066	0.00898562	0.0089	0.0020	0.0035	0.0065	0.0018	0.0093	0.0088	0.0199	0.0084928	1313	154602	rs61736175	0.0085	0.0085	0.0080	0.0090	0.0182	0.0083	0.0083	0.0174	0.0171	0.0017	0.0039	0.0223	0.0027	0.0014	0.0135	0.0083	0.0078	0.0182	0.0061	0.0061	0.0065	0.0056	0.0184	0.0057	0.0056	0.0153	0.0142	0.0016	0	0.0041	0.0199	0.0035	0.0020	0.0136	0.0085	0.0066	0.0184	0.62	0.05309	T	0.58	0.08505	T	0.013	0.16609	B	0.002	0.06944	B	0.587486	0.11082	N	0.821323	1	0.08975	N	1.32	0.33002	L	-1.33	0.79854	T	0.75	0.02007	N	0.086	0.06322	-1.0342	0.19109	T	0.099	0.36983	T	10	0.0032759309	0.00056	T	.	.	.	0.108	0.30607	.	.	0.758637590366	0.75644	0.18763110196947	0.18681	0.447445100316	0.44600	0.210918799043	0.00851	T	0.014264	0.12177	T	-0.541748	0.00327	T	-0.536024	0.18690	T	0.000301284946156845	0.00002	T	.	.	.	0.0146959955	0.00104	0.028547987	0.01101	0.0146959955	0.00104	0.028547987	0.01101	-4.48	0.30626	T	.	.	0.064	0.01622	B	.	.	0.249347	0.06286	2.745	0.89166591148968233	0.18567	0.08586	0.14495	N	AEFBCI	0.078759	0.15897	N	-1.02043871544408	0.08180	0.3826558	-1.00375510592156	0.09703	0.4842453	0.992500774861752	0.32863	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.297	0.15011	-0.310000	0.08175	-0.120000	0.11732	-0.123000	0.13640	0.002000	0.15269	0.000000	0.08366	0.040000	0.14268	0.3968:0.0:0.4018:0.2014	3.114	0.05984	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017429	0.020202	0.025815	0.005319	0.050000	0.008621	0.012195	0.007576	0.05	1415.43	39	chr6	33404029	.	G	A	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.58;DP=450;ExcessHet=0;FS=6.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=1.66;SOR=1.244	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1226	9	0	1	0
chr6	33412304	33412304	C	T	exonic	PHF1	.	nonsynonymous SNV	PHF1:NM_002636:exon2:c.C41T:p.S14L,PHF1:NM_024165:exon2:c.C41T:p.S14L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00566197226739	7.7e-05	.	1.657e-05	0	0	0	0	3.018e-05	0	0	1.94e-05	3	154602	rs368297880	7.525e-06	7.524e-06	8.168e-06	6.876e-06	4.472e-05	4.04e-06	2.95e-06	7.41e-06	2.77e-06	2.988e-05	4.472e-05	0	0	0	0	6.295e-06	1.656e-05	0	3.284e-05	3.283e-05	1.284e-05	5.377e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0.0003	0	0	0	5.879e-05	0	0	0.032	0.44694	D	0.385	0.26798	T	0.001	0.07471	B	0.001	0.04355	B	0.327534	0.14169	N	0.632337	0.980531	0.25105	N	0	0.06538	N	1.5	0.31205	T	-0.51	0.16187	N	0.276	0.31253	-1.0267	0.21527	T	0.018	0.07376	T	10	0.08998859	0.15637	T	0.005662	0.14651	T	0.036	0.09122	.	.	0.2338531098	0.23012	0.3442285029951862	0.34336	0.265133399698	0.29071	0.497548162937	0.38486	T	0.031319	0.21988	T	-0.286559	0.09983	T	-0.541742	0.18126	T	0.0930412963356647	0.11574	T	0.925307	0.72522	D	0.15199476	0.34525	0.08908237	0.20810	0.15199476	0.34525	0.08908237	0.20810	-3.926	0.24177	T	.	.	0.087	0.12750	B	.;.;.;.	.;.;.;.	3.242384	0.44262	21.9	0.99621576094480668	0.75473	0.43576	0.27128	N	AEFBCI	0.130028	0.24843	N	-0.357621476890357	0.26993	1.477552	-0.182306445633408	0.32186	1.828701	0.999956745298824	0.48110	0.660085	0.49399	0	0.662677	0.63036	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.0	4.06	0.46572	1.017000	0.29591	2.847000	0.35116	0.599000	0.40250	0.399000	0.26162	0.994000	0.32194	0.960000	0.51673	0.2974:0.7026:0.0:0.0	9.944	0.40767	364	0.84707	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000545	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1267.43	40	chr6	33412304	.	C	T	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=444;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=0.036;SOR=0.614	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1182	9	0	1	0
chr6	33690049	33690049	G	A	exonic	ITPR3	.	nonsynonymous SNV	ITPR3:NM_002224:exon51:c.G6883A:p.V2295M	.	424	1096	2	0	0	2	0.000911577	.	.	.	722002	not_provided|ITPR3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.766	0.268445494182	0.0035	0.00259585	0.0010	0.0089	0.0005	0	0.0002	0.0003	0.0011	0	0.0009638	149	154602	rs59525809	0.0004	0.0004	0.0004	0.0004	0.0106	0.0004	0.0003	0.0097	0.0094	0.0106	0.0007	0.0005	0	3.744e-05	0.0028	7.014e-05	0.0009	2.319e-05	0.0030	0.0030	0.0033	0.0026	0.0100	0.0027	0.0026	0.0092	0.0089	0.0100	0	0.0010	0.0003	0	0	0.0034	7.349e-05	0.0052	0.0002	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000096	0.51296	D	0.130517	1	0.81001	D	3.145	0.88303	M	-3.05	0.92407	D	-2.58	0.55662	D	0.727	0.74189	0.807	0.94500	D	0.823	0.94061	D	10	0.018000394	0.00388	T	0.268445	0.89785	D	0.766	0.92087	.	.	0.970440663564	0.97012	0.6641240563088786	0.66349	1.73859626385	0.90843	0.890464663506	0.95318	D	0.915869	0.98454	D	-0.126529	0.32058	T	0.0534358	0.73810	D	0.0689373478253002	0.08501	T	0.984602	0.94707	D	0.6027144	0.72837	0.37372777	0.62554	0.6027144	0.72838	0.37372777	0.62554	-7.954	0.60755	D	.	.	0.753	0.75187	P	.;.	.;.	5.478012	0.91348	32	0.99858077518465405	0.93639	0.93531	0.58471	D	AEFDBCI	0.700411	0.65744	D	0.77850399984074	0.84742	8.374078	0.759012517459619	0.86827	9.01638	0.999999964651361	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.4	5.4	0.77957	5.943000	0.69923	10.009000	0.83083	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0763:0.0:0.9237:0.0	12.522	0.55413	518	0.74548	Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2025.43	37	chr6	33690049	.	G	A	2025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.052;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.551;SOR=0.684	GT:AD:DP:GQ:PL	0/1:76,87:163:99:2037,0,1613	9	0	1	0
chr6	33725457	33725457	C	T	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon5:c.G749A:p.R250H,IP6K3:NM_001142883:exon6:c.G749A:p.R250H	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0372862837944	.	0.000599042	8.633e-05	0	8.985e-05	0.0001	0	0	0	0.0005	8.41e-05	13	154602	rs537814047	7.884e-05	8.072e-05	6.55e-05	9.231e-05	0.0004	6.681e-05	6.214e-05	0.0003	0.0003	0	0.0002	0	5.039e-05	0	0.0002	6.027e-05	3.313e-05	0.0004	3.94e-05	3.937e-05	1.285e-05	6.715e-05	0.0008	1.715e-05	1.129e-05	0.0003	0.0002	0	0	6.542e-05	0	0.0002	0	0	0	0	0.0008	0.001	0.78490	D	0.01	0.65728	D	1.0	0.90584	D	0.98	0.74843	D	0.000051	0.53742	N	0.081645	1	0.81001	D	3.615	0.93875	H	1.89	0.23688	T	-4.44	0.77637	D	0.983	0.99260	-0.3500	0.73554	T	0.240	0.60738	T	10	0.90196383	0.89559	D	0.037286	0.57522	D	0.598	0.84074	0.935	0.99047	0.70357419934	0.70100	0.711571797505311	0.71099	0.836942912249	0.67851	0.655955910683	0.60831	T	0.150628	0.49018	T	0.0289462	0.55584	T	0.161287	0.80884	D	0.877320170402527	0.52721	D	0.999644	0.99868	D	0.79140246	0.83361	0.7133926	0.83088	0.79140246	0.83362	0.7133926	0.83089	-11.53	0.82486	D	.	.	0.885	0.81758	P	.;.	.;.	5.598879	0.92440	32	0.99957348016346304	0.99981	0.99670	0.98521	D	AEFDBI	0.953912	0.97060	D	1.04357448132592	0.96936	15.35066	0.971033785888951	0.97984	17.16936	0.999999999999997	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.71	5.71	0.89031	7.870000	0.85529	7.555000	0.60355	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.832	0.96635	663	0.61610	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	709.43	35	chr6	33725457	.	C	T	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.992;DP=371;ExcessHet=0;FS=3.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.115;SOR=0.294	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1035	9	0	1	0
chr6	33728174	33728174	G	A	exonic	IP6K3	.	nonsynonymous SNV	IP6K3:NM_054111:exon3:c.C326T:p.T109M,IP6K3:NM_001142883:exon4:c.C326T:p.T109M	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0322342953289	0.0040	0.00199681	0.0022	0.0049	0.0020	0.0001	0	0.0021	0.0011	0.0036	0.0021604	334	154602	rs150896095	0.0016	0.0016	0.0016	0.0017	0.0076	0.0016	0.0016	0.0058	0.0055	0.0065	0.0028	0.0028	2.519e-05	0.0002	0.0076	0.0013	0.0024	0.0038	0.0031	0.0031	0.0033	0.0029	0.0060	0.0029	0.0028	0.0054	0.0051	0.0060	0	0.0042	0.0037	0	9.418e-05	0.0102	0.0018	0.0071	0.0017	0.112	0.28900	T	0.115	0.36630	T	0.992	0.64738	D	0.549	0.49194	P	0.419610	0.04640	N	1.337040	0.995247	0.23338	N	2.52	0.73523	M	-0.04	0.63240	T	-0.91	0.24460	N	0.278	0.31478	-0.9768	0.35727	T	0.145	0.46859	T	10	0.0071498156	0.00162	T	0.032234	0.54117	D	0.159	0.41286	.	.	0.75764659095	0.75544	0.23401076173292826	0.23316	0.363397901793	0.37968	0.328446745872	0.14700	T	0.008565	0.07859	T	-0.431873	0.01444	T	-0.39149	0.34377	T	0.026335940910225	0.01451	T	0.761424	0.38629	T	0.019829847	0.00522	0.03587812	0.02925	0.019829847	0.00522	0.03587812	0.02924	-5.098	0.37886	T	.	.	0.078	0.07318	B	.;.	.;.	2.599617	0.33743	19.43	0.99642368235853584	0.76756	0.76282	0.37400	D	AEFDBI	0.285381	0.39802	N	0.0261345817811165	0.43045	2.605293	-0.0708603272587964	0.36600	2.132096	0.748086210377825	0.23316	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.39	0.697	0.17242	2.797000	0.47570	3.734000	0.39628	0.676000	0.76740	0.995000	0.38783	1.000000	0.68203	0.961000	0.51904	0.0:0.1157:0.2706:0.6137	8.510	0.32372	668	0.61153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010101	0.015152	0.012228	0.011765	0.000000	0.008621	0.006135	0.007576	0.05	1445.43	34	chr6	33728174	.	G	A	1445.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.8;DP=507;ExcessHet=0;FS=1.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.512;SOR=0.73	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr6	33772728	33772728	T	C	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001143944:exon8:c.A506G:p.N169S,LEMD2:NM_001348709:exon9:c.A506G:p.N169S,LEMD2:NM_001348710:exon9:c.A1013G:p.N338S,LEMD2:NM_181336:exon9:c.A1412G:p.N471S	Cataract 46, juvenile-onset, Autosomal recessive	429	1092	1	0	0	1	0.000457666	.	.	.	4163405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.00861643987822	.	.	0.0001	0	0	0	0	0.0002	0	6.149e-05	0.0001035	16	154602	rs754334541	6.568e-05	6.635e-05	6.126e-05	7.014e-05	0.0003	5.495e-05	5.107e-05	6.092e-05	4.484e-05	0	0	0.0004	2.519e-05	3.754e-05	0.0003	6.115e-05	9.935e-05	6.957e-05	5.255e-05	5.253e-05	5.138e-05	5.378e-05	0.0004	2.556e-05	1.83e-05	7.279e-05	3.025e-05	2.412e-05	0	0	0.0006	0	0	0	4.41e-05	0	0.0004	0.217	0.46910	T	0.0	0.92824	D	0.705	0.41986	P	0.355	0.42984	B	0.000130	0.49741	D	0.085235	0.999242	0.52935	D	2.445	0.70938	M	.	.	.	-4.71	0.79915	D	0.405	0.44570	-0.8988	0.48115	T	0.124	0.42757	T	9	0.32252622	0.49601	T	0.008616	0.22779	T	0.211	0.50185	0.754	0.88402	0.538561335957	0.53506	0.8008757854619355	0.80041	1.36812693153	0.84473	0.563203692436	0.47720	T	0.414051	0.83820	T	-0.300596	0.08604	T	-0.409882	0.32238	T	0.278540700674057	0.24110	T	0.90391	0.66280	D	0.10133952	0.23937	0.13030757	0.31314	0.10133952	0.23937	0.13030757	0.31313	-11.86	0.84162	D	.	.	0.124	0.60751	B	.;.;.;.	.;.;.;.	3.200518	0.43526	21.7	0.99775713687680323	0.86346	0.84600	0.43683	D	ALL	0.521944	0.54616	D	0.0941739997124988	0.46190	2.863317	0.17775129481006	0.48630	3.076392	0.99999999993761	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.698795	0.65105	0	0.648885	0.59868	0	.	.	5.35	4.18	0.48473	4.308000	0.58922	2.377000	0.32464	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.777000	0.36790	0.0:0.0726:0.0:0.9274	11.136	0.47600	704	0.57414	Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;Man1-Src1p-C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1592.43	33	chr6	33772728	.	T	C	1592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.901;DP=593;ExcessHet=0;FS=4.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.313;SOR=1.156	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	9	0	1	0
chr6	33789040	33789040	G	T	exonic	LEMD2	.	nonsynonymous SNV	LEMD2:NM_001348710:exon1:c.C77A:p.T26N,LEMD2:NM_181336:exon1:c.C77A:p.T26N	Cataract 46, juvenile-onset, Autosomal recessive	403	1106	13	0	0	13	0.0058427	.	.	.	699557	LEMD2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.639280208701	0.0011	0.000998403	0.0018	0.0003	0.0025	0	0	0.0015	0.0013	0.0049	0.0015265	236	154602	rs201742534	0.0013	0.0013	0.0012	0.0015	0.0060	0.0013	0.0013	0.0044	0.0038	6.897e-05	0.0019	0.0006	3.027e-05	6.668e-05	0.0060	0.0012	0.0017	0.0041	0.0014	0.0014	0.0013	0.0015	0.0033	0.0012	0.0012	0.0021	0.0017	0.0002	0.0395	0.0017	0.0012	0	0	0.0034	0.0016	0.0043	0.0033	0.0	0.91255	D	0.0	0.92824	D	0.992	0.64738	D	0.854	0.60866	P	0.035878	0.24591	N	0.289183	0.996411	0.43191	D	2.435	0.70606	M	0.59	0.53943	T	-1.29	0.32387	N	0.357	0.39861	-0.7408	0.58412	T	0.184	0.53255	T	10	0.007704705	0.00175	T	0.63928	0.96921	D	0.297	0.61730	.	.	0.88499437131	0.88386	0.6374398677451883	0.63677	2.36727214104	0.96895	0.967392325401	0.99966	D	0.138416	0.47188	T	-0.329247	0.06168	T	-0.245587	0.50253	T	0.162509006180523	0.18055	T	0.766923	0.39491	T	0.7202142	0.79173	0.6774251	0.81054	0.6841438	0.77194	0.7451461	0.84937	-7.026	0.54223	T	.	.	0.936	0.85639	P	.;.	.;.	3.929071	0.57419	23.9	0.98969454934959467	0.49501	0.07249	0.13273	N	ALL	0.268558	0.38503	N	0.439557539998273	0.63614	4.59848	0.364489302476495	0.59387	4.115924	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.99	3.12	0.34986	1.487000	0.35149	11.025000	0.84998	0.639000	0.52094	0.997000	0.40164	1.000000	0.68203	0.998000	0.85391	0.0985:0.0:0.9015:0.0	9.958	0.40848	743	0.52768	LEM domain|LEM domain|LEM domain;LEM domain|LEM domain|LEM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005561	0.000000	0.009511	0.000000	0.050000	0.008621	0.000000	0.015152	0.05	604.43	37	chr6	33789040	.	G	T	604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.626;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=0.801;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,925	9	0	1	0
chr6	34528877	34528880	GGTG	-	exonic	PACSIN1	.	frameshift deletion	PACSIN1:NM_001199583:exon4:c.456delG:p.E152Dfs*20,PACSIN1:NM_020804:exon4:c.456delG:p.E152Dfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	100.39	34	chr6	34528876	.	AGGTG	A	100.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=448;ExcessHet=0;FS=19.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=-0.718;SOR=4.255	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1090:.	9	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	139.65	56	chr6	34528878	.	G	C	139.65	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.21;DP=617;ExcessHet=2.8389;FS=196.238;InbreedingCoeff=-0.5972;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=2.19;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,15:61:24:.:.:24,0,742:.	1	0	4	5
chr6	34528878	34528878	G	0	splicing	PACSIN1	NM_020804:exon4:c.456+1G>0;NM_001199583:exon4:c.456+1G>0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	139.65	56	chr6	34528878	.	G	*	139.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.21;DP=617;ExcessHet=2.8389;FS=196.238;InbreedingCoeff=-0.5972;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=2.19;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:61:24:.:.:24,152,934:.	4	0	1	5
chr6	34544029	34544029	T	C	exonic	SPDEF	.	nonsynonymous SNV	SPDEF:NM_001252294:exon2:c.A427G:p.I143V,SPDEF:NM_012391:exon2:c.A427G:p.I143V	.	.	.	.	.	.	.	.	.	.	.	3326660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0155969116892	0.0005	.	0.0003	0.0002	0	0	0	0.0005	0	0	0.0002329	36	154602	rs151017071	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0	0.0002	0	0	3.749e-05	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.239e-05	0.0002	0.0002	7.236e-05	0	0	0	0	0	0	0.0003	0	0	0.125	0.28646	T	0.023	0.57104	D	0.941	0.52883	P	0.844	0.60373	P	0.174737	0.17271	N	0.584674	0.999999	0.58761	D	1.58	0.39772	L	1.4	0.33630	T	-0.71	0.20576	N	0.624	0.63883	-1.0279	0.21136	T	0.112	0.40191	T	10	0.33973306	0.51055	T	0.015597	0.36422	T	0.237	0.54074	.	.	0.369524611565	0.36568	0.26414039426416586	0.26327	0.786750793736	0.65562	0.590794861317	0.51606	T	0.098045	0.40147	T	-0.307131	0.08003	T	-0.364691	0.37509	T	0.0826741751786548	0.10326	T	0.873813	0.58316	D	0.11867253	0.27955	0.108621575	0.26168	0.11867253	0.27955	0.108621575	0.26167	-6.877	0.53233	T	.	.	0.327	0.62689	B	.;.	.;.	4.569479	0.72080	25.8	0.99848265217889987	0.92750	0.95859	0.66460	D	AEFGBCI	0.941325	0.94446	D	0.525831411169122	0.68622	5.242633	0.53476174728665	0.70343	5.491468	0.999999999999597	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.631631	0.49550	0	.	.	5.07	5.07	0.68106	7.975000	0.87664	7.899000	0.73451	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:0.0:1.0	14.884	0.70191	612	0.66786	Pointed domain|Pointed domain|Pointed domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	801.43	36	chr6	34544029	.	T	C	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.577;DP=404;ExcessHet=0;FS=0.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-0.273;SOR=0.593	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1127	9	0	1	0
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.05	1449.43	149	chr6	34871686	.	A	G	1449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.439;DP=467;ExcessHet=0;FS=2.9;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=0.615;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1262	9	0	1	0
chr6	34981753	34981753	G	T	exonic	ANKS1A	.	nonsynonymous SNV	ANKS1A:NM_015245:exon4:c.G499T:p.V167L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00328172347838	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316595486	4.104e-06	4.104e-06	4.084e-06	4.125e-06	4.496e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	1.656e-05	0	1.972e-05	1.97e-05	0	4.036e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.48	0.08237	T	0.245	0.24054	T	0.002	0.09854	B	0.003	0.08700	B	0.010367	0.29953	N	0.151326	0.917317	0.36576	D	-1.36	0.00644	N	0.19	0.60236	T	-0.42	0.14193	N	0.318	0.35832	-1.0520	0.13845	T	0.044	0.18824	T	10	0.18841895	0.34397	T	0.003282	0.07268	T	0.182	0.45420	0.517	0.61763	0.578139219814	0.57484	0.34356622640577683	0.34269	1.05119572782	0.76154	0.567463815212	0.48319	T	0.063798	0.32268	T	-0.0517961	0.44174	T	-0.312178	0.43425	T	0.495993673801422	0.32483	T	0.906609	0.67067	D	0.09476359	0.22288	0.09328362	0.22024	0.09476359	0.22288	0.09328362	0.22024	-7.505	0.57646	D	.	.	0.156	0.48355	B	.;.;.	.;.;.	3.343789	0.46092	22.2	0.96284657567727006	0.29292	0.94527	0.61454	D	AEFBI	0.516280	0.54288	D	-0.185652533491748	0.33731	1.917066	0.118017580266562	0.45470	2.809645	0.999999999757695	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.95	5.95	0.96415	4.254000	0.58588	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.402	0.99001	393	0.83123	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1720.43	81	chr6	34981753	.	G	T	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.456;DP=703;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.51;ReadPosRankSum=-0.678;SOR=0.636	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	9	0	1	0
chr6	34985102	34985102	A	G	exonic	ANKS1A	.	nonsynonymous SNV	ANKS1A:NM_015245:exon8:c.A1033G:p.T345A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00822560477835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.015	0.61642	D	0.332	0.33274	B	0.069	0.27757	B	0.004093	0.34125	N	0.128614	0.812321	0.81001	D	2.125	0.59049	M	0.65	0.52642	T	-0.96	0.25551	N	0.498	0.53093	-1.0428	0.16473	T	0.051	0.21844	T	10	0.18399507	0.33753	T	0.008226	0.21801	T	0.039	0.10176	0.348	0.34436	0.511911713033	0.50833	0.20745456116354005	0.20661	0.372969820583	0.38776	0.437234312296	0.30199	T	0.087404	0.37934	T	-0.0624155	0.42530	T	-0.327432	0.41755	T	0.66355288028717	0.39052	D	0.840116	0.51512	T	0.08546093	0.19825	0.07973252	0.17976	0.08546093	0.19824	0.07973252	0.17976	-3.547	0.17096	T	.	.	0.090	0.12418	B	.;.;.	.;.;.	3.428662	0.47640	22.5	0.99052729556490493	0.51298	0.99034	0.90260	D	AEFDBI	0.465948	0.51380	N	0.0806203563661079	0.45559	2.810449	0.251486786721456	0.52733	3.446272	0.999999942375638	0.74766	0.732398	0.92422	0	0.624146	0.53433	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	5.978000	0.70187	7.118000	0.57587	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	14.480	0.67152	406	0.82375	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	745.43	33	chr6	34985102	.	A	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=391;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=0.659;SOR=0.951	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr6	35239871	35239871	C	G	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon8:c.C946G:p.Q316E,SCUBE3:NM_152753:exon8:c.C949G:p.Q317E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.395	.	0.0052	0.00439297	0.0020	0.0150	0.0020	0	0	0.0008	0.0023	0.0002	0.0019146	296	154602	rs35847323	0.0011	0.0011	0.0012	0.0011	0.0152	0.0011	0.0011	0.0141	0.0136	0.0152	0.0027	0.0014	0	0	0.0027	0.0008	0.0022	0.0001	0.0050	0.0050	0.0051	0.0049	0.0151	0.0047	0.0046	0.0142	0.0138	0.0151	0	0.0035	0.0026	0	0	0.0102	0.0007	0.0071	0	0.12	0.27904	T	0.272	0.22223	T	0.988	0.62325	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.05	0.08135	N	-2.23	0.87116	D	-2.0	0.46146	N	0.756	0.75466	0.080	0.83809	D	0.571	0.84458	D	10	0.016492635	0.00348	T	.	.	.	0.395	0.71004	.	.	0.79306112714	0.79113	0.8303890678036987	0.82997	1.81151216937	0.91805	0.726714015007	0.71027	T	0.360653	0.72686	T	-0.288765	0.09759	T	-0.174593	0.57021	T	0.0378166368876159	0.03299	T	0.889511	0.62170	D	0.35742292	0.57639	0.27449015	0.53377	0.35742292	0.57640	0.27449015	0.53376	-9.462	0.70622	D	.	.	0.115	0.22861	B	.	.	5.099969	0.85202	28.5	0.99126618432851732	0.53142	0.98585	0.84383	D	AEFDGBI	0.954704	0.97201	D	0.575891288524969	0.71671	5.686588	0.634439794025218	0.77459	6.683007	1.0	0.98316	0.740787	0.97801	0	0.547309	0.14657	0	0.877121	0.99996	0	0.673998	0.66042	0	.	.	5.66	5.66	0.87293	7.905000	0.86479	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	19.750	0.96260	248	0.90287	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006073	0.025253	0.005435	0.000000	0.000000	0.017241	0.003125	0.000000	0.05	1161.43	34	chr6	35239871	.	C	G	1161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.291;DP=417;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.78;SOR=0.573	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr6	35287805	35287805	G	C	exonic	ZNF76	.	nonsynonymous SNV	ZNF76:NM_001292032:exon5:c.G392C:p.S131T,ZNF76:NM_003427:exon5:c.G392C:p.S131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00415693157155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs760624974	6.17e-06	6.156e-06	1.364e-06	1.103e-05	0.0002	2.9e-06	2.1e-06	5.873e-05	3.774e-05	0.0002	0	0	0	0	0	0	1.659e-05	3.496e-05	2.627e-05	2.626e-05	3.852e-05	1.344e-05	9.642e-05	8.14e-06	5.14e-06	3.247e-05	1.913e-05	9.642e-05	0	0	0	0	0	0	0	0	0	0.061	0.39097	T	0.178	0.53788	T	0.0	0.14184	B	0.0	0.24114	B	0.025514	0.26076	N	0.270585	1	0.08975	N	.	.	.	3.0	0.09167	T	-0.9	0.24244	N	0.192	0.27316	-0.9352	0.43364	T	0.005	0.01578	T	10	0.07779297	0.12321	T	0.004157	0.09995	T	0.058	0.16647	0.249	0.18602	0.0138822411134	0.00435	0.21124229796370744	0.21040	0.165898034849	0.18718	0.348670721054	0.17727	T	0.02539	0.18993	T	-0.381055	0.03069	T	-0.785136	0.02302	T	0.0881339027310744	0.10994	T	0.49745	0.16594	T	0.036553107	0.04519	0.055684447	0.09815	0.036553107	0.04518	0.055684447	0.09814	-5.268	0.39625	T	.	.	0.098	0.16054	B	.;.;.	.;.;.	0.702009	0.10706	7.401	0.90240609709055652	0.19512	0.58067	0.30543	D	AEFBI	0.250290	0.37036	N	-1.09906076817682	0.06661	0.3072676	-1.04955098253282	0.08716	0.4299248	0.984267307553945	0.30690	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	0.375	0.15419	2.408000	0.44227	1.744000	0.28423	-2.839000	0.00176	0.601000	0.27755	0.006000	0.19429	0.840000	0.39645	0.4805:0.1455:0.3739:0.0	5.359	0.15383	297	0.88113	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2070.43	33	chr6	35287805	.	G	C	2070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=459;ExcessHet=0;FS=1.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.006;SOR=0.557	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	9	0	1	0
chr6	35748542	35748542	A	C	exonic	ARMC12	.	nonsynonymous SNV	ARMC12:NM_001286574:exon6:c.A695C:p.H232P,ARMC12:NM_145028:exon6:c.A776C:p.H259P	.	433	1067	21	1	0	23	0.010663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00634508766509	0.0031	0.00219649	0.0021	0.0064	0.0018	0.0001	0.0002	0.0020	0	0.0021	0.0019146	296	154602	rs112217683	0.0014	0.0014	0.0013	0.0015	0.0107	0.0013	0.0013	0.0085	0.0077	0.0059	0.0022	0.0080	2.738e-05	0.0003	0.0107	0.0011	0.0022	0.0019	0.0028	0.0028	0.0029	0.0027	0.0051	0.0026	0.0025	0.0045	0.0043	0.0051	0.0296	0.0018	0.0081	0	0.0002	0.0068	0.0016	0.0047	0.0021	0.237	0.17881	T	0.243	0.24193	T	0.0	0.02946	B	0.003	0.08700	B	0.048323	0.23261	N	0.366698	1	0.22879	N	1.52	0.38360	L	0.02	0.62318	T	3.45	0.00121	N	0.518	0.54845	-1.0344	0.19046	T	0.041	0.17657	T	10	0.0049612224	0.00106	T	0.006345	0.16668	T	0.059	0.16972	.	.	0.397691132334	0.39381	0.5949043647100937	0.59420	0.175494679042	0.19754	0.482856690884	0.36450	T	0.009311	0.08481	T	-0.428359	0.01516	T	-0.385889	0.35032	T	0.00151927204601168	0.00015	T	0.530647	0.17608	T	0.06890074	0.15049	0.06611069	0.13496	0.06890074	0.15049	0.06611069	0.13496	-3.491	0.16306	T	.	.	0.122	0.25560	B	.;.	.;.	1.792031	0.22780	15.76	0.83981245221982426	0.15029	0.15495	0.18940	N	AEFBI	0.160584	0.28653	N	-0.787983469773123	0.13622	0.6724289	-0.731953790953558	0.16168	0.853948	3.23453867622665E-4	0.06540	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	4.76	1.16	0.19936	1.160000	0.31372	2.964000	0.35768	0.756000	0.94297	0.363000	0.25867	0.949000	0.28973	0.962000	0.52141	0.4847:0.1954:0.3198:0.0	3.825	0.08363	675	0.60470	.;Armadillo repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.015152	0.025815	0.005848	0.000000	0.017241	0.018293	0.003788	0.05	1658.43	37	chr6	35748542	.	A	C	1658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.508;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.84;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1183	9	0	1	0
chr6	35805713	35805713	C	T	exonic	LHFPL5	.	nonsynonymous SNV	LHFPL5:NM_182548:exon1:c.C43T:p.H15Y	Deafness, autosomal recessive 67, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	229480	not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_67	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012460,MedGen:C1853223,OMIM:610265,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.782	0.109857085369	0.0008	0.00219649	0.0006	0.0012	0.0019	0	0	0.0005	0	0.0002	0.0005951	92	154602	rs149941106	0.0004	0.0004	0.0004	0.0004	0.0029	0.0004	0.0004	0.0019	0.0017	0.0012	0.0022	0.0001	2.519e-05	0	0.0029	0.0003	0.0006	0.0001	0.0009	0.0009	0.0010	0.0008	0.0024	0.0008	0.0007	0.0017	0.0015	0.0018	0	0.0024	0	0	0	0.0034	0.0004	0.0014	0	0.067	0.35918	T	0.004	0.74150	D	0.981	0.59675	D	0.954	0.69447	D	0.000000	0.84330	N	0.043666	1	0.81001	D	.	.	.	-1.13	0.77719	T	-3.16	0.64246	D	0.89	0.88909	0.215	0.86162	D	0.590	0.85342	D	10	0.045241386	0.03571	T	0.109857	0.78700	D	0.782	0.92746	.	.	0.629593947353	0.62656	.	.	1.10494106084	0.77866	0.911390304565	0.97600	D	0.546313	0.84557	D	-0.0184351	0.49077	T	0.194885	0.82847	D	0.031123512735974	0.02166	T	0.957304	0.83911	D	0.39673236	0.60505	0.4184864	0.65870	0.39673236	0.60505	0.4184864	0.65870	-8.443	0.64051	D	.	.	0.423	0.60836	A	.;.	.;.	4.886039	0.80171	27.3	0.99809163793382527	0.89353	0.91931	0.54574	D	AEFDBHCI	0.946142	0.95527	D	0.813095889915728	0.86918	9.042199	0.787520777740661	0.88911	9.764204	0.999999999996011	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.33	5.33	0.75683	7.828000	0.84883	7.705000	0.66497	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.040	0.92974	485	0.77085	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2021.43	38	chr6	35805713	.	C	T	2021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.661;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.789;SOR=0.656	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1126	9	0	1	0
chr6	36209898	36209898	C	G	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon5:c.C1849G:p.P617A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0371194661712	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1218571792	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.445	0.92174	M	1.71	0.26737	T	-7.57	0.95276	D	0.863	0.90704	-0.4554	0.70221	T	0.233	0.59904	T	10	0.8565668	0.84856	D	0.037119	0.57417	D	0.534	0.80426	0.644	0.78117	0.649361835314	0.64645	0.7708783273194767	0.77036	1.42624112889	0.85721	0.746485829353	0.73928	T	0.242	0.61016	T	0.201696	0.74050	D	0.0519454	0.73712	D	0.993825554847717	0.84790	D	0.964804	0.86967	D	0.7754071	0.82373	0.84865665	0.91414	0.7754071	0.82375	0.84865665	0.91415	-11.054	0.80209	D	.	.	0.692	0.72869	P	.;.;.;.	.;.;.;.	4.722202	0.75965	26.4	0.97295770544107929	0.33252	0.98476	0.83180	D	AEFDBHCI	0.871650	0.79315	D	1.04552251330307	0.96983	15.41788	0.986003501928263	0.98338	18.00875	0.999999999999963	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.858000	0.85341	7.698000	0.66136	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	20.325	0.98698	494	0.76445	Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain;.;.;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	805.43	34	chr6	36209898	.	C	G	805.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.321;DP=374;ExcessHet=0;FS=3.408;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=-0.244;SOR=0.387	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1208	9	0	1	0
chr6	36225308	36225308	G	A	exonic	BRPF3	.	nonsynonymous SNV	BRPF3:NM_015695:exon11:c.G3223A:p.E1075K	.	420	1075	26	1	0	28	0.0128558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	.	0.0083	0.00559105	0.0083	0.0012	0.0049	0	0.0091	0.0105	0.0112	0.0103	0.0082987	1283	154602	rs142171063	0.0094	0.0094	0.0091	0.0097	0.0135	0.0092	0.0092	0.0111	0.0102	0.0020	0.0055	0.0052	0.0002	0.0081	0.0135	0.0102	0.0091	0.0093	0.0075	0.0075	0.0074	0.0076	0.0120	0.0071	0.0070	0.0113	0.0110	0.0014	0.0022	0.0078	0.0052	0.0002	0.0064	0.0170	0.0120	0.0081	0.0074	0.005	0.63226	D	0.086	0.43721	T	0.912	0.50421	P	0.498	0.47596	P	0.000089	0.51296	D	0.129355	0.99986	0.81001	D	1.765	0.45800	L	-0.52	0.70717	T	-2.66	0.58248	D	0.903	0.90363	-0.4452	0.70559	T	0.413	0.76048	T	10	0.013104111	0.00279	T	.	.	.	0.442	0.74518	.	.	0.774720261517	0.77264	0.8641290524401819	0.86376	0.567022438611	0.52971	0.75238609314	0.74798	T	0.162972	0.50785	T	-0.129283	0.31612	T	0.0519048	0.73710	D	0.0249159672370973	0.01261	T	0.935306	0.81731	D	0.64164495	0.74919	0.53257245	0.72991	0.64164495	0.74920	0.53257245	0.72991	-8.051	0.61417	D	.	.	0.266	0.50054	B	.;.;.	.;.;.	5.149429	0.86240	28.8	0.99543335025107649	0.70648	0.86249	0.45493	D	AEFDGBHCI	0.883812	0.81302	D	0.734200740686734	0.81876	7.625519	0.765997048586827	0.87348	9.190829	1.0	0.98316	0.722319	0.85440	0	0.653731	0.59785	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	6.04	0.98025	5.697000	0.67954	11.918000	0.99752	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1337:0.8663:0.0	15.993	0.80014	567	0.70732	PWWP domain|PWWP domain|BR140-related, PWWD domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.005051	0.016304	0.002924	0.000000	0.017241	0.039634	0.011364	0.05	1362.43	36	chr6	36225308	.	G	A	1362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.281;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-1.932;SOR=0.703	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1378	9	0	1	0
chr6	36319517	36319517	G	A	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon11:c.C1762T:p.H588Y	.	425	1055	40	2	0	44	0.0204271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0004	0.00499201	0.0048	0.0002	0.0014	0.0001	0	0.0008	0.0033	0.0311	0.0042108	651	154602	rs141156956	0.0024	0.0024	0.0014	0.0034	0.0310	0.0023	0.0023	0.0300	0.0296	8.961e-05	0.0009	0.0017	2.519e-05	3.744e-05	0.0087	0.0005	0.0030	0.0310	0.0017	0.0017	0.0012	0.0022	0.0328	0.0015	0.0014	0.0286	0.0270	0.0001	0	0.0010	0.0020	0.0004	9.414e-05	0.0204	0.0008	0.0009	0.0328	1.0	0.00964	T	1.0	0.01155	T	0.989	0.62824	D	0.689	0.53736	P	0.121568	0.02730	N	1.775450	1	0.08975	N	1.59	0.40313	L	0.92	0.44461	T	-3.18	0.64478	D	0.24	0.27077	-1.0831	0.06758	T	0.084	0.32900	T	10	0.004032612	0.00078	T	.	.	.	0.053	0.14996	.	.	0.0762999501168	0.06990	0.07542998746863407	0.07478	0.0447508738287	0.04840	.	.	.	0.11461	0.43256	T	-0.657847	0.00065	T	-0.693353	0.06197	T	0.0419195599550089	0.04041	T	0.349965	0.07784	T	0.06261554	0.13096	0.056656428	0.10162	0.06261554	0.13096	0.056656428	0.10161	-3.888	0.22122	T	.	.	0.094	0.14568	B	.	.	1.114042	0.14994	11.50	0.95584321604298716	0.27297	0.03715	0.09002	N	AEFDGBHCI	0.076169	0.15316	N	-0.188137897838867	0.33628	1.909955	-0.349527260884552	0.26523	1.465581	0.999999975344712	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.55	1.02	0.19102	0.141000	0.15897	-1.329000	0.05702	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.440000	0.27671	0.086:0.0:0.387:0.527	6.729	0.22564	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010081	0.005051	0.004076	0.017544	0.000000	0.017241	0.003067	0.018939	0.05	1366.43	34	chr6	36319517	.	G	A	1366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.697;DP=418;ExcessHet=0;FS=1.608;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.72;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	9	0	1	0
chr6	36376024	36376024	C	T	exonic	ETV7	.	nonsynonymous SNV	ETV7:NM_001207035:exon3:c.G154A:p.A52T,ETV7:NM_001207038:exon3:c.G154A:p.A52T,ETV7:NM_016135:exon3:c.G154A:p.A52T	.	427	1094	1	0	0	1	0.00045683	.	.	.	2693384	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00641254949281	7.7e-05	0.000399361	0.0002	0	0.0003	0.0005	0	0.0002	0	0.0005	0.0002005	31	154602	rs145194281	0.0001	0.0002	0.0001	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	5.984e-05	0.0002	0.0002	0.0004	0.0002	0.0005	0.0001	0.0002	0.0003	0.0001	0.0001	8.994e-05	0.0002	0.0008	8.659e-05	7.252e-05	0.0003	0.0002	4.811e-05	0	0.0003	0	0.0002	9.413e-05	0	0.0001	0	0.0008	0.379	0.11227	T	0.564	0.11968	T	0.014	0.16867	B	0.021	0.19346	B	0.001114	0.40219	N	0.218446	0.999515	0.47363	D	0.895	0.22405	L	1.59	0.28836	T	-0.77	0.24244	N	0.116	0.14196	-0.9895	0.32727	T	0.012	0.04416	T	10	0.04603079	0.03745	T	0.006413	0.16870	T	0.035	0.08770	.	.	0.351614576976	0.34778	0.0930406893030708	0.09236	0.204166068536	0.22834	0.427990913391	0.28934	T	0.023137	0.17715	T	-0.524607	0.00413	T	-0.659273	0.08316	T	0.00903536013673949	0.00113	T	0.552645	0.19352	T	0.033428714	0.03559	0.050278507	0.07858	0.033428714	0.03558	0.050278507	0.07857	-5.496	0.44163	T	.	.	0.127	0.26978	B	.;.;.	.;.;.	1.737461	0.22111	15.48	0.88399417171753969	0.17946	0.64584	0.32454	D	AEFBCI	0.186043	0.31336	N	-1.1054173551733	0.06546	0.3016307	-1.00923251675949	0.09581	0.477511	0.00589609016715724	0.11072	0.643511	0.44296	0	0.688494	0.66719	0	0.467745	0.07146	0	0.542086	0.14980	0	.	.	3.63	0.148	0.14137	1.566000	0.36005	-0.376000	0.09574	-0.976000	0.01917	0.367000	0.25900	0.000000	0.08366	0.204000	0.22012	0.25:0.5209:0.0:0.2291	4.929	0.13262	587	0.69154	.;Pointed domain|Pointed domain|Pointed domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	628.43	33	chr6	36376024	.	C	T	628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=1.29;SOR=0.725	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1217	9	0	1	0
chr6	36721185	36721185	-	AGGCTGCCTCCCCTGAGGAGGCTGCCTCCCCTGAGG	exonic	RAB44	.	nonframeshift insertion	RAB44:NM_001257357:exon9:c.1051_1052insAGGCTGCCTCCCCTGAGGAGGCTGCCTCCCCTGAGG:p.A358_P359insASPEEAASPEEA	.	417	971	124	8	2	142	0.067243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0002	0.0002	0.0003	0.0002	0.0011	0.0002	0.0002	0.0004	0.0004	0.0007	0	0	0	0.0003	0.0011	0.0002	0.0002	5.106e-05	0.0005	0.0006	0.0005	0.0006	0.0015	0.0005	0.0004	0.0010	0.0009	0.0009	0	0.0015	0	0	0.0002	0.0034	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4577.48	71	chr6	36721185	.	C	CAGGCTGCCTCCCCTGAGGAGGCTGCCTCCCCTGAGG	4577.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.278;DP=547;ExcessHet=2.8389;FS=4.333;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.223;SOR=0.917	GT:AD:DP:GQ:PL	0/0:42,0:61:99:670,798,2562	9	0	1	0
chr6	36721185	36721185	-	AGGCTGCCTCCCCTGAGA	exonic	RAB44	.	nonframeshift insertion	RAB44:NM_001257357:exon9:c.1051_1052insAGGCTGCCTCCCCTGAGA:p.E356_E357insKAASPE	.	0	194	30	0	2	32	0.0717703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0129792	0.0059	0.0192	0	0	0	0.0011	0.0714	0	0.0006147	16	26028	rs376539816	0.0010	0.0007	0.0011	0.0009	0.0354	0.0009	0.0009	0.0333	0.0325	0.0354	0.0030	0	0.0002	0	0.0029	0.0001	0.0025	0.0002	0.0090	0.0091	0.0091	0.0089	0.0310	0.0086	0.0084	0.0296	0.0290	0.0310	0	0.0044	0	0.0006	0	0.0034	0.0002	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4577.48	71	chr6	36721185	.	C	CAGGCTGCCTCCCCTGAGA	4577.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.278;DP=547;ExcessHet=2.8389;FS=4.333;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=-1.223;SOR=0.917	GT:AD:DP:GQ:PL	0/0:42,0:61:99:670,798,2562	9	0	1	0
chr6	36721308	36721308	C	-	exonic	RAB44	.	frameshift deletion	RAB44:NM_001257357:exon9:c.1174delC:p.P393Rfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1009120230	0.0012	0.0009	0.0012	0.0012	0.0014	0.0012	0.0012	0.0013	0.0013	0.0002	0.0004	0	3.77e-05	0.0005	0	0.0014	0.0009	0.0006	0.0007	0.0007	0.0006	0.0007	0.0012	0.0006	0.0005	0.0010	0.0009	0.0001	0	0.0002	0	0	0.0007	0	0.0012	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1557.1	49	chr6	36721307	.	GC	G	1557.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.289;DP=548;ExcessHet=0.2348;FS=4.818;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.886;SOR=0.368	GT:AD:DP:GQ:PL	0/1:25,31:56:99:844,0,640	8	0	2	0
chr6	38815553	38815553	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon25:c.A2768G:p.H923R,DNAH8:NM_001206927:exon26:c.A3419G:p.H1140R	.	425	1094	3	0	0	3	0.00136924	.	.	.	239913	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.128	.	.	0.00798722	0.0041	0	0.0004	0	0	3.002e-05	0.0011	0.0298	0.0035963	556	154602	rs377516809	0.0017	0.0017	0.0009	0.0025	0.0281	0.0017	0.0016	0.0272	0.0268	8.962e-05	0	0	2.52e-05	0	0.0007	1.169e-05	0.0013	0.0281	0.0009	0.0009	0.0006	0.0012	0.0278	0.0008	0.0007	0.0240	0.0225	0	0	0	0	0.0002	0	0	2.94e-05	0.0009	0.0278	0.422	0.09776	T	.	.	.	0.017	0.17573	B	0.003	0.08700	B	0.000081	0.52346	D	0.130506	0.662714	0.33067	D	1.21	0.30464	L	0.35	0.58029	T	-0.73	0.23372	N	0.449	0.48689	-1.1100	0.03070	T	0.037	0.15899	T	10	0.008993506	0.00203	T	.	.	.	0.128	0.35103	.	.	0.717392553567	0.71491	0.3847445113683057	0.38389	0.150328258347	0.16959	0.497708946466	0.38508	T	0.002196	0.01594	T	-0.389989	0.02691	T	-0.312019	0.43441	T	0.0345090785547442	0.02725	T	0.727427	0.34191	T	0.1872681	0.40174	0.1703512	0.39137	0.18060398	0.39190	0.16675694	0.38506	-2.182	0.03954	T	.	.	0.209	0.50025	B	.;.;.	.;.;.	2.791086	0.36690	20.3	0.95934945667142713	0.28225	0.95366	0.64440	D	AEFBI	0.735864	0.68155	D	-0.210741246795145	0.32693	1.846498	0.0459148333360851	0.41875	2.523123	0.999861014243844	0.44398	0.623552	0.39893	0	0.610034	0.51514	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.74	5.74	0.90070	6.425000	0.73295	8.048000	0.76344	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.28	0.65756	490	0.76723	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.000000	0.000000	0.005848	0.000000	0.008621	0.003049	0.018939	0.05	1128.43	39	chr6	38815553	.	A	G	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=449;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=1.11;SOR=0.784	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D,DNAH8:NM_001206927:exon36:c.G4908T:p.E1636D	.	437	1043	40	2	0	44	0.0206573	.	.	YES	239918	Primary_ciliary_dyskinesia|Spermatogenic_failure_46	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014602	0.020202	0.009511	0.017544	0.050000	0.008621	0.024390	0.018939	0.05	1414.43	38	chr6	38845636	.	G	T	1414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.876;DP=453;ExcessHet=0;FS=1.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-1.791;SOR=0.557	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	9	0	1	0
chr6	38898367	38898367	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon60:c.C8399T:p.T2800I,DNAH8:NM_001206927:exon61:c.C9050T:p.T3017I	.	.	.	.	.	.	.	.	.	.	.	455791	Primary_ciliary_dyskinesia|not_specified	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.00697687297508	.	.	8.288e-06	9.666e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs776762950	5.624e-06	5.473e-06	6.983e-06	4.246e-06	0.0007	2.42e-06	1.75e-06	0.0002	0.0001	0	2.824e-05	0	0	0	0.0007	9.1e-07	3.397e-05	0	6.572e-06	6.568e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.715	0.04107	T	.	.	.	0.094	0.25382	B	0.04	0.23831	B	0.000005	0.62929	D	0.104934	0.969818	0.40550	D	-0.475	0.02701	N	1.07	0.39586	T	0.38	0.04022	N	0.816	0.85766	-1.0689	0.09657	T	0.026	0.11220	T	10	0.472174	0.59928	T	0.006977	0.18485	T	0.193	0.47281	0.47	0.54376	0.568785453283	0.56543	0.44343222597782816	0.44261	0.158171497314	0.17861	0.672454178333	0.63188	T	0.004828	0.04332	T	0.0592882	0.59524	T	-0.0300685	0.68364	D	0.109383237028996	0.13359	T	0.933407	0.75104	D	0.12600732	0.29525	0.15078309	0.35545	0.12600732	0.29525	0.15078309	0.35544	-3.779	0.20491	T	.	.	0.089	0.12371	B	.;.;.	.;.;.	3.002893	0.40130	21.1	0.92409178485141608	0.21823	0.88461	0.48399	D	AEFI	0.210885	0.33673	N	-0.153903289981328	0.35069	2.009667	0.102970297227831	0.44701	2.74673	0.0372659384791928	0.14288	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.84	5.84	0.93373	2.021000	0.40640	3.335000	0.37659	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9282:0.0:0.0718	13.347	0.60017	563	0.71062	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	579.43	35	chr6	38898367	.	C	T	579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=392;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.436;SOR=0.757	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	9	0	1	0
chr6	38908034	38908034	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon63:c.C8776T:p.R2926C,DNAH8:NM_001206927:exon64:c.C9427T:p.R3143C	.	.	.	.	.	.	.	.	.	.	.	634913	Spermatogenic_failure_46|Primary_ciliary_dyskinesia|not_provided	MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.230	0.0448554868776	0.0002	0.000199681	5.795e-05	0.0007	0	0	0	0	0	0	5.82e-05	9	154602	rs151313083	6.027e-05	6.02e-05	6.951e-05	5.094e-05	0.0016	4.967e-05	4.632e-05	0.0013	0.0012	0.0016	8.975e-05	0	0	1.879e-05	0.0003	1.44e-05	0.0002	0	0.0005	0.0005	0.0005	0.0004	0.0014	0.0004	0.0003	0.0012	0.0010	0.0014	0	0.0004	0	0	0	0.0034	2.94e-05	0.0005	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	1.58	0.29085	T	-7.53	0.95131	D	0.724	0.73555	-0.6765	0.61534	T	0.179	0.52489	T	10	0.2962436	0.47190	T	0.044855	0.61695	D	0.230	0.53062	.	.	0.768606373302	0.76648	0.5820628750730588	0.58135	0.672642297793	0.59544	0.668417453766	0.62611	T	0.145224	0.48224	T	-0.197819	0.21119	T	-0.0759436	0.65198	T	0.424587418856119	0.29860	T	0.985101	0.94867	D	0.6501636	0.75373	0.5621398	0.74663	0.6501636	0.75374	0.5621398	0.74664	-10.276	0.75548	D	.	.	0.449	0.62167	A	.;.;.	.;.;.	4.042093	0.59845	24.1	0.99915303256611754	0.98379	0.93565	0.58564	D	AEFI	0.503202	0.53529	D	0.821108374810118	0.87406	9.207452	0.751418909711316	0.86263	8.833533	0.963018084123763	0.28662	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.74	5.74	0.90070	3.883000	0.55880	4.864000	0.45499	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.857000	0.40602	0.1386:0.8614:0.0:0.0	15.534	0.75723	678	0.60190	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	442.43	36	chr6	38908034	.	C	T	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.575;DP=356;ExcessHet=0;FS=1.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=2.75;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1036	9	0	1	0
chr6	39012311	39012311	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon89:c.C12817T:p.R4273C,DNAH8:NM_001206927:exon90:c.C13468T:p.R4490C	.	434	1083	5	0	0	5	0.00230309	.	.	.	239935	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.414	.	7.7e-05	0.0115815	0.0050	0.0003	0.0008	0.0116	0.0002	0.0002	0.0022	0.0293	0.0044631	690	154602	rs78849281	0.0028	0.0028	0.0020	0.0035	0.0339	0.0027	0.0027	0.0323	0.0317	0.0002	6.71e-05	0	0.0339	9.365e-05	0.0007	8.281e-05	0.0021	0.0285	0.0016	0.0016	0.0012	0.0020	0.0294	0.0014	0.0014	0.0255	0.0240	0.0001	0	0.0002	0	0.0158	0.0003	0	8.821e-05	0.0009	0.0294	0.001	0.78490	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.715	0.94732	H	2.84	0.10674	T	-7.43	0.94843	D	0.808	0.83371	-0.7568	0.57578	T	0.119	0.41799	T	10	0.0075264275	0.00171	T	.	.	.	0.414	0.72479	.	.	0.617481672061	0.61438	0.7577948668358869	0.75727	0.673258825652	0.59583	0.602618634701	0.53275	T	0.255742	0.62657	T	-0.187723	0.22592	T	-0.000691574	0.70290	D	0.143817794314389	0.16600	T	0.957104	0.83854	D	0.7857521	0.83009	0.6811706	0.81264	0.8037435	0.84147	0.5543644	0.74227	-10.566	0.77225	D	.	.	0.405	0.66854	A	.;.	.;.	3.699783	0.52758	23.3	0.99846909662126826	0.92663	0.96428	0.69091	D	AEFBI	0.425123	0.49002	N	0.904629227555576	0.91984	11.17057	0.810583749138536	0.90519	10.44474	0.0613127230988003	0.15227	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.16	5.27	0.73797	1.399000	0.34175	3.267000	0.37132	0.599000	0.40250	0.998000	0.41325	0.998000	0.33993	0.984000	0.60418	0.2627:0.7373:0.0:0.0	14.579	0.67871	703	0.57489	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.022727	0.05	1978.43	42	chr6	39012311	.	C	T	1978.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.27;DP=472;ExcessHet=0;FS=4.956;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.948;SOR=1.136	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1273	9	0	1	0
chr6	39026654	39026654	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon91:c.C13172T:p.T4391M,DNAH8:NM_001206927:exon92:c.C13823T:p.T4608M	.	.	.	.	.	.	.	.	.	.	.	395182	Primary_ciliary_dyskinesia|Spermatogenic_failure_46	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.106	.	0.0015	0.00159744	0.0005	0.0053	0.0004	0	0	1.511e-05	0	0	0.0004398	68	154602	rs142438011	0.0001	0.0001	0.0002	0.0001	0.0041	0.0001	0.0001	0.0036	0.0033	0.0041	0.0003	0	0	0	0.0002	1.439e-05	0.0004	5.799e-05	0.0016	0.0016	0.0015	0.0017	0.0056	0.0014	0.0014	0.0050	0.0048	0.0056	0	0.0006	0	0	0	0	0	0.0009	0	0.064	0.36509	T	.	.	.	0.65	0.40644	P	0.569	0.49832	P	0.010018	0.30104	N	0.330753	0.899	0.36122	D	2.765	0.80766	M	3.02	0.08986	T	-2.66	0.56945	D	0.263	0.29774	-1.1379	0.01439	T	0.025	0.10598	T	10	0.0058651567	0.00131	T	.	.	.	0.106	0.30130	.	.	0.711946693247	0.70942	0.3993011695767112	0.39845	0.402848295305	0.41231	0.350839138031	0.18045	T	0.053906	0.29574	T	-0.594734	0.00157	T	-0.624736	0.10818	T	0.04610653272596	0.04802	T	0.649735	0.26051	T	0.06971989	0.15299	0.20986404	0.45349	0.07032313	0.15481	0.23570603	0.48821	-5.653	0.43273	T	.	.	0.080	0.08129	B	.;.	.;.	0.408986	0.07802	4.490	0.99490361585142217	0.67403	0.12416	0.17255	N	AEFBI	0.103062	0.20659	N	-0.210096819219514	0.32720	1.848298	-0.347618420090077	0.26583	1.469261	0.136769193473132	0.17197	0.549168	0.22868	0	0.627178	0.54094	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	6.16	1.88	0.24630	0.233000	0.17689	-0.113000	0.11807	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.198000	0.21837	0.0:0.6936:0.0:0.3064	9.981	0.40986	768	0.49510	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1735.43	33	chr6	39026654	.	C	T	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.752;DP=471;ExcessHet=0;FS=1.221;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=0.342;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	9	0	1	0
chr6	39086015	39086015	G	C	exonic	GLP1R	.	nonsynonymous SNV	GLP1R:NM_002062:exon13:c.G1334C:p.S445T	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	.	0.00319489	0.0020	0	0.0003	0	0	3.002e-05	0.0011	0.0147	0.0017917	277	154602	rs201672448	0.0009	0.0009	0.0005	0.0014	0.0150	0.0009	0.0009	0.0143	0.0140	0	2.236e-05	0	7.557e-05	0	0.0005	5.396e-06	0.0009	0.0150	0.0005	0.0005	0.0004	0.0006	0.0147	0.0004	0.0004	0.0120	0.0110	0	0	0	0	0	0	0	2.941e-05	0.0005	0.0147	0.207	0.19854	T	0.125	0.35330	T	0.022	0.18677	B	0.004	0.10090	B	0.000017	0.62929	D	0.072732	0.999056	0.45965	D	2.78	0.81115	M	0.7	0.51474	T	-1.04	0.27259	N	0.089	0.06720	-1.0108	0.26666	T	0.097	0.36522	T	10	0.0060991645	0.00137	T	.	.	.	0.097	0.27909	.	.	0.742283290031	0.73996	0.4908779703742634	0.49007	0.649209194799	0.58240	0.331426739693	0.15150	T	0.289449	0.66224	T	-0.43353	0.01412	T	-0.383188	0.35348	T	0.0655294104330482	0.08010	T	0.630737	0.24588	T	0.1698624	0.37527	0.27198887	0.53105	0.1698624	0.37527	0.27198887	0.53104	-3.526	0.16798	T	.	.	0.068	0.02894	B	.	.	2.328705	0.29829	18.25	0.95904166326164608	0.28139	0.94453	0.61214	D	AEFDBI	0.638283	0.61675	D	0.0388317285984963	0.43630	2.652185	0.188912085073855	0.49238	3.129465	0.999999161915244	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	5.695000	0.67940	9.268000	0.79613	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.611000	0.31665	0.0:0.0:1.0:0.0	19.710	0.96085	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.000000	0.008772	0.000000	0.000000	0.003049	0.015152	0.05	914.43	33	chr6	39086015	.	G	C	914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.423;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.341;SOR=0.642	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1027	9	0	1	0
chr6	39316370	39316370	G	A	exonic	KCNK16	.	nonsynonymous SNV	KCNK16:NM_001135106:exon5:c.C734T:p.A245V,KCNK16:NM_032115:exon5:c.C734T:p.A245V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0114268524991	.	.	2.974e-05	0	0.0002	0.0001	0	0	0	0	2.59e-05	4	154602	rs763314461	1.438e-05	1.436e-05	1.226e-05	1.652e-05	8.984e-05	9.24e-06	7.84e-06	2.994e-05	1.81e-05	2.988e-05	8.984e-05	0	2.521e-05	0	0	1.17e-05	0	2.331e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0	0.003	0.68238	D	0.003	0.76473	D	0.465	0.36447	P	0.081	0.28987	B	0.000006	0.00162	N	94.265600	0.933794	0.81001	D	2.4	0.69460	M	1.41	0.33412	T	-3.58	0.69118	D	0.638	0.65074	-1.0290	0.20778	T	0.049	0.20947	T	10	0.34998128	0.51879	T	0.011427	0.29047	T	0.330	0.65226	0.767	0.89452	0.334659703779	0.33074	.	.	.	.	0.554471731186	0.46488	T	0.291965	0.66471	T	-0.195786	0.21414	T	-0.293308	0.45427	T	0.692331671714783	0.40356	D	0.915408	0.69775	D	0.41999647	0.62091	0.3981042	0.64408	0.41999647	0.62092	0.3981042	0.64408	-4.652	0.36049	T	.	.	0.172	0.56971	B	.;.	.;.	4.980735	0.82498	27.8	0.99882601481592725	0.95813	0.96734	0.70654	D	AEFDBI	0.775846	0.70914	D	0.120133486812398	0.47402	2.966456	0.212899056418372	0.50562	3.246976	0.996587876589731	0.34847	0.497415	0.19182	0	0.563428	0.19063	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.11	4.22	0.49153	6.409000	0.73209	6.380000	0.55540	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0757:0.0:0.9243:0.0	13.988	0.63860	917	0.20147	Potassium channel domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	724.43	36	chr6	39316370	.	G	A	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.188;DP=469;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.918;SOR=0.913	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	9	0	1	0
chr6	39357340	39357340	G	C	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon6:c.C470G:p.T157R,KIF6:NM_001351566:exon6:c.C470G:p.T157R,KIF6:NM_001289020:exon18:c.C2066G:p.T689R,KIF6:NM_001289021:exon18:c.C1949G:p.T650R,KIF6:NM_145027:exon19:c.C2117G:p.T706R	.	.	.	.	.	.	.	.	.	.	.	3991089	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.0121838086423	0.0002	0.000399361	3.296e-05	0.0002	0.0002	0	0	0	0	0	3.88e-05	6	154602	rs201592417	1.574e-05	1.573e-05	1.634e-05	1.513e-05	0.0003	1.048e-05	8.75e-06	0.0002	0.0001	0.0003	0.0001	0	0	0	0	2.698e-06	4.968e-05	0	0.0001	0.0001	6.426e-05	0.0002	0.0004	8.662e-05	7.255e-05	0.0002	0.0002	0.0003	0	0.0004	0	0	0	0	0	0	0	0.11	0.29158	T	0.402	0.51421	T	0.008	0.14655	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.53	0.70833	T	-0.78	0.38345	N	0.07	0.12055	-1.0818	0.07003	T	0.056	0.23715	T	9	0.016656876	0.00352	T	0.012184	0.30521	T	0.060	0.17295	.	.	0.318828661733	0.31499	0.2846215029800656	0.28375	0.0692597278946	0.07753	0.20354488492	0.00567	T	0.00392	0.03333	T	-0.348736	0.04807	T	-0.422555	0.30783	T	0.0125838558485906	0.00209	T	0.662434	0.27137	T	0.0703928	0.15502	0.0650175	0.13116	0.0703928	0.15502	0.0650175	0.13116	-3.37	0.16940	T	.	.	0.057	0.00861	B	.;.;.;.	.;.;.;.	-1.722764	0.00185	0.003	0.6686489316756109	0.08184	0.00360	0.01845	N	AEFDBI	0.091233	0.18482	N	-1.72732340334161	0.00749	0.03235795	-1.84259227394559	0.00632	0.0280931	0.508146561241369	0.20997	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.0	-7.77	0.01090	-1.221000	0.03077	-3.299000	0.02895	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.2354:0.1361:0.495:0.1335	4.132	0.09621	907	0.22727	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1393.43	36	chr6	39357340	.	G	C	1393.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=588;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.03;SOR=0.547	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr6	39362478	39362478	C	G	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon4:c.G255C:p.Q85H,KIF6:NM_001351566:exon4:c.G255C:p.Q85H,KIF6:NM_001289020:exon16:c.G1851C:p.Q617H,KIF6:NM_001289021:exon16:c.G1734C:p.Q578H,KIF6:NM_145027:exon17:c.G1902C:p.Q634H	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00705593962514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356025184	2.736e-06	2.736e-06	2.723e-06	2.75e-06	1.159e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	8.993e-07	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.39575	T	0.069	0.43913	T	0.553	0.38185	P	0.135	0.33210	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.97	0.42502	T	-1.46	0.38345	N	0.18	0.25130	-0.9867	0.33420	T	0.025	0.10777	T	9	0.098769486	0.17879	T	0.007056	0.18704	T	0.061	0.17616	0.527	0.63263	0.337135696972	0.33324	0.05485542851286626	0.05426	0.0989282270927	0.11174	0.216793194413	0.01133	T	0.009098	0.08305	T	-0.228237	0.16883	T	-0.565623	0.15852	T	0.163034275174141	0.18093	T	0.776822	0.42110	T	0.054751083	0.10549	0.07179254	0.15414	0.054751083	0.10549	0.07179254	0.15413	-4.994	0.36775	T	.	.	0.086	0.18497	B	.;.;.;.	.;.;.;.	0.759742	0.11292	7.919	0.89462110458471034	0.18817	0.06177	0.12161	N	AEFDBHCI	0.104550	0.20916	N	-1.01285651575766	0.08336	0.3905199	-1.16809382902362	0.06449	0.3104708	0.999891020339784	0.45129	0.495158	0.18159	0	0.615948	0.52940	0	0.535252	0.11790	0	0.584449	0.35598	0	.	.	5.23	-4.68	0.03070	-0.393000	0.07366	-2.500000	0.03678	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.267000	0.23694	0.0:0.1628:0.1257:0.7114	9.557	0.38511	899	0.25060	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1055.43	34	chr6	39362478	.	C	G	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.073;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=2.68;SOR=0.632	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	9	0	1	0
chr6	39900192	39900192	A	G	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon23:c.A2795G:p.N932S,DAAM2:NM_015345:exon23:c.A2792G:p.N931S	.	423	1076	21	2	0	25	0.0114837	.	.	.	3208721	DAAM2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0004	0.00199681	0.0029	0.0003	0.0010	0	0	0.0008	0.0031	0.0167	0.0019469	301	154602	rs201309255	0.0012	0.0012	0.0007	0.0016	0.0145	0.0011	0.0011	0.0138	0.0136	0	0.0013	0.0001	2.534e-05	0	0.0033	0.0003	0.0013	0.0145	0.0007	0.0007	0.0006	0.0008	0.0087	0.0006	0.0006	0.0066	0.0059	9.625e-05	0	0.0022	0	0	9.416e-05	0	0.0004	0.0005	0.0087	0.735	0.04379	T	0.855	0.03467	T	0.024	0.19075	B	0.089	0.29769	B	0.144841	0.18166	N	0.587856	0.999602	0.20887	N	0.085	0.08345	N	2.41	0.15492	T	-0.6	0.17834	N	0.164	0.22098	-0.9329	0.43710	T	0.006	0.01944	T	10	0.0056210756	0.00125	T	.	.	.	0.057	0.16321	.	.	0.389984549148	0.38611	0.09421232891520907	0.09353	0.117723410409	0.13256	0.307763725519	0.11569	T	0.021735	0.16878	T	-0.724177	0.00026	T	-0.80133	0.01869	T	0.00950425947968312	0.00123	T	0.772623	0.40374	T	0.042891417	0.06586	0.042034414	0.04915	0.042891417	0.06586	0.042034414	0.04914	-4.182	0.26635	T	.	.	0.053	0.00303	B	.;.;.;.	.;.;.;.	0.177617	0.05655	2.106	0.77087014610030602	0.11731	0.09415	0.15175	N	AEFBCI	0.225159	0.34928	N	-1.07852194424477	0.07040	0.3258706	-1.03611002257717	0.08999	0.4453272	0.993814777994016	0.33367	0.660377	0.49826	0	0.563428	0.19063	0	0.696353	0.63694	0	0.586402	0.36253	0	.	.	5.11	-2.07	0.06873	-0.183000	0.09707	-0.473000	0.08966	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.436:0.3708:0.1932:0.0	5.924	0.18337	777	0.48198	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.1	1545.14	33	chr6	39900192	.	A	G	1545.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.16;DP=402;ExcessHet=0.2348;FS=1.496;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.276;SOR=0.848	GT:AD:DP:GQ:PL	0/1:21,34:55:99:849,0,491	8	0	2	0
chr6	39906488	39906488	G	C	exonic	MOCS1	.	nonsynonymous SNV	MOCS1:NM_001358529:exon10:c.C1732G:p.L578V,MOCS1:NM_001358531:exon10:c.C1519G:p.L507V,MOCS1:NM_001358530:exon11:c.C1780G:p.L594V	Molybdenum cofactor deficiency A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	2030077	Sulfite_oxidase_deficiency_due_to_molybdenum_cofactor_deficiency_type_A|not_provided	MONDO:MONDO:0009643,MedGen:C1854988,OMIM:252150,Orphanet:308386,Orphanet:833|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.439	.	.	0.00199681	0.0004	0	0	0	0	0	0	0.0032	0.000401	62	154602	rs577245246	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	0	0	0	0	0	0	8.993e-07	0.0001	0.0032	0.0001	0.0001	7.707e-05	0.0002	0.0043	9.14e-05	7.697e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.016	0.52492	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000012	0.62929	D	0.000000	0.549588	0.81001	D	4.305	0.98282	H	0.57	0.61443	T	-2.2	0.49519	N	0.757	0.79792	-0.5196	0.67929	T	0.270	0.64162	T	9	0.044270813	0.03365	T	.	.	.	0.439	0.74306	0.879	0.96784	0.757187420261	0.75498	0.6643614276299226	0.66373	.	.	0.621442735195	0.55933	T	0.520775	0.83237	D	-0.129686	0.31545	T	0.038203	0.72810	D	0.298174918868721	0.24928	T	0.996975	0.98834	D	0.23927979	0.46816	0.22516109	0.47452	0.20602609	0.42763	0.20567726	0.44747	-10.936	0.80463	D	0.7033797979206674	0.78265	0.275	0.50853	B	.;.	.;.	3.667385	0.52131	23.2	0.99796521115117709	0.88194	0.96153	0.67775	D	AEFDGBI	0.666379	0.63487	D	0.422394394680258	0.62654	4.48506	0.384920752703091	0.60634	4.253243	0.999927433918531	0.46280	0.719381	0.83141	0	0.547309	0.14657	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.34	3.54	0.39650	3.573000	0.53600	5.099000	0.47419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.2282:0.0:0.7718:0.0	9.789	0.39862	851	0.35303	.;Molybdopterin cofactor biosynthesis C (MoaC) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2024.43	36	chr6	39906488	.	G	C	2024.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.373;DP=488;ExcessHet=0;FS=2.942;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.855;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1209	9	0	1	0
chr6	41034129	41034129	G	T	exonic	UNC5CL	.	nonsynonymous SNV	UNC5CL:NM_173561:exon3:c.C438A:p.D146E	.	408	1089	23	2	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	0.0065	0.00499201	0.0086	0.0022	0.0040	0.0018	0.0055	0.0109	0.0104	0.0114	0.0081629	1262	154602	rs147669667	0.0096	0.0096	0.0094	0.0098	0.0120	0.0095	0.0094	0.0112	0.0110	0.0011	0.0054	0.0030	0.0020	0.0049	0.0120	0.0105	0.0090	0.0118	0.0067	0.0067	0.0067	0.0067	0.0112	0.0063	0.0062	0.0094	0.0091	0.0015	0.0219	0.0064	0.0043	0.0019	0.0048	0.0068	0.0100	0.0128	0.0112	0.28	0.15509	T	0.165	0.30926	T	0.756	0.43409	P	0.678	0.53406	P	0.000043	0.53742	D	0.000000	0.80733	0.29043	N	1.32	0.33002	L	1.05	0.39990	T	-0.68	0.19509	N	0.624	0.63883	-1.0917	0.05254	T	0.065	0.26702	T	10	0.010130048	0.00227	T	.	.	.	0.105	0.29889	0.448	0.50793	0.444505407614	0.44072	0.32841712452372535	0.32754	0.55956992757	0.52493	0.606204330921	0.53781	T	0.009612	0.08738	T	-0.43467	0.01390	T	-0.386762	0.34931	T	0.049045115221159	0.05331	T	0.69513	0.30474	T	0.14271234	0.32830	0.1266743	0.30504	0.14271234	0.32830	0.1266743	0.30503	-6.381	0.49361	T	.	.	0.646	0.74223	P	.;.	.;.	2.804785	0.36903	20.4	0.99652718392113959	0.77380	0.75210	0.36814	D	AEFDBI	0.343576	0.43934	N	0.117645046854027	0.47287	2.956471	0.146321850026763	0.46946	2.932529	0.999932144858726	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	3.91	0.44383	1.751000	0.37967	2.856000	0.35172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0996:0.0:0.9004:0.0	9.162	0.36191	454	0.79125	ZU5 domain|ZU5 domain|ZU5 domain;ZU5 domain|ZU5 domain|ZU5 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.005102	0.012228	0.008772	0.000000	0.017241	0.015244	0.000000	0.05	1709.43	43	chr6	41034129	.	G	T	1709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.861;DP=441;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.231;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	9	0	1	0
chr6	41061555	41061555	C	A	exonic	APOBEC2	.	nonsynonymous SNV	APOBEC2:NM_006789:exon2:c.C359A:p.T120N	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0530840902267	0.0069	0.00219649	0.0050	0.0018	0.0022	0.0001	0.0020	0.0074	0.0044	0.0033	0.0051746	800	154602	rs41273362	0.0082	0.0082	0.0083	0.0081	0.0096	0.0081	0.0080	0.0095	0.0094	0.0013	0.0023	0.0097	2.519e-05	0.0014	0.0012	0.0096	0.0082	0.0032	0.0049	0.0049	0.0056	0.0042	0.0084	0.0046	0.0045	0.0079	0.0076	0.0017	0	0.0024	0.0066	0	0.0012	0	0.0084	0.0038	0.0054	0.001	0.78490	D	0.015	0.61642	D	1.0	0.90584	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.605	0.93784	H	0.52	0.55266	T	-4.59	0.78891	D	0.912	0.91391	-0.1959	0.77777	T	0.371	0.73016	T	10	0.03181091	0.01321	T	0.053084	0.65328	D	0.565	0.82232	.	.	0.805687181342	0.80387	0.889782823350155	0.88948	0.389843987297	0.40208	0.674383044243	0.63464	T	0.427369	0.77687	T	-0.290434	0.09593	T	-0.18057	0.56472	T	0.0390108040909898	0.03513	T	0.908009	0.67517	D	0.9353074	0.94771	0.8438327	0.91092	0.9353074	0.94771	0.8438327	0.91092	-9.493	0.70815	D	.	.	0.634	0.70263	P	.	.	4.242199	0.64330	24.7	0.99447075209479496	0.65071	0.99494	0.96712	D	AEFBI	0.851594	0.76846	D	0.900666441432376	0.91791	11.06694	0.854515918504477	0.93278	11.93798	0.999999999999994	0.74766	0.615465	0.37627	0	0.379588	0.06130	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.69	5.69	0.88346	5.806000	0.68817	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.793	0.91946	480	0.77422	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase domain	.	.	.	.	rs41273362	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2023.43	42	chr6	41061555	.	C	A	2023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.311;DP=623;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.851;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1116	9	0	1	0
chr6	41740500	41740500	C	T	exonic	PGC	.	nonsynonymous SNV	PGC:NM_002630:exon6:c.G758A:p.G253D	.	417	1080	24	1	0	26	0.0118939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0021	0.00139776	0.0029	0.0004	0.0010	0.0001	0	0.0022	0.0146	0.0112	0.0024967	386	154602	rs146769097	0.0019	0.0019	0.0015	0.0022	0.0105	0.0018	0.0018	0.0099	0.0097	0.0001	0.0007	0.0081	5.078e-05	0	0.0068	0.0013	0.0026	0.0105	0.0014	0.0014	0.0013	0.0014	0.0068	0.0012	0.0012	0.0050	0.0044	0.0003	0	0.0012	0.0095	0	0	0.0034	0.0016	0.0024	0.0068	0.067	0.35918	T	0.61	0.07691	T	0.995	0.67487	D	0.887	0.62952	P	0.156595	0.17795	N	0.572523	1	0.08975	N	0.77	0.19370	N	0.44	0.56609	T	-1.77	0.41809	N	0.297	0.33578	-0.9958	0.31082	T	0.100	0.37290	T	10	0.008054823	0.00183	T	.	.	.	0.181	0.45247	.	.	0.468003879618	0.46428	0.612523108828657	0.61184	0.202384851127	0.22661	0.36427628994	0.20007	T	0.032225	0.22391	T	-0.478077	0.00759	T	-0.451539	0.27528	T	0.0154015321060609	0.00344	T	0.657934	0.26722	T	0.11558035	0.27272	0.12309866	0.29686	0.11558035	0.27272	0.12309866	0.29686	-7.998	0.61057	D	.	.	0.226	0.45750	B	.	.	1.557426	0.19955	14.52	0.98829675087421176	0.46936	0.10204	0.15775	N	AEFBCI	0.122361	0.23747	N	-0.656866268285708	0.17260	0.8866704	-0.79779014470838	0.14549	0.7607732	0.999771066895117	0.42865	0.487112	0.14033	0	0.563428	0.19063	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	5.08	2.17	0.26736	-0.307000	0.08206	-0.457000	0.09062	-0.924000	0.02182	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.4442:0.4811:0.0746	10.399	0.43404	579	0.69780	Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.007576	0.05	1881.43	35	chr6	41740500	.	C	T	1881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.732;DP=513;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-2.424;SOR=0.84	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	9	0	1	0
chr6	41771841	41771841	T	C	exonic	FRS3	.	nonsynonymous SNV	FRS3:NM_006653:exon6:c.A539G:p.H180R	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00777474339951	.	0.000998403	0.0025	0	0.0024	0	0	0	0	0.0062	0.0004722	73	154602	rs143921336	0.0004	0.0004	0.0002	0.0006	0.0060	0.0004	0.0004	0.0055	0.0054	3.149e-05	0	0	0	0	0.0014	5.557e-05	0.0005	0.0060	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0002	0.0040	0.0034	2.413e-05	0	0	0	0	0	0	0.0001	0.0005	0.0056	0.021	0.49117	D	0.016	0.60972	D	0.003	0.11197	B	0.002	0.06944	B	0.000000	0.84330	D	0.049231	0.999999	0.58761	D	2.415	0.69758	M	1.37	0.34253	T	-3.83	0.72120	D	0.43	0.46928	-1.0876	0.05943	T	0.050	0.21456	T	10	0.00805065	0.00183	T	0.007775	0.20616	T	0.108	0.30607	.	.	0.498748557451	0.49510	0.6695201673081536	0.66890	0.284638027848	0.30886	0.627529799938	0.56795	T	0.592132	0.86803	D	-0.399273	0.02341	T	-0.344386	0.39848	T	0.0665794348532288	0.08163	T	0.837116	0.50934	T	0.43596092	0.63141	0.38543975	0.63460	0.43596092	0.63142	0.38543975	0.63460	-2.232	0.04199	T	.	.	0.189	0.48282	B	.;.	.;.	2.975224	0.39672	21.0	0.97331408770743699	0.33428	0.96619	0.70051	D	AEFBI	0.512892	0.54091	D	-0.0771718898360903	0.38396	2.248117	0.0408136358430773	0.41630	2.504301	0.999969090981355	0.48965	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.23	4.07	0.46726	4.861000	0.62666	4.153000	0.42161	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0775:0.0:0.9225	10.435	0.43614	423	0.81269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1134.43	33	chr6	41771841	.	T	C	1134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.1;DP=412;ExcessHet=0;FS=1.787;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.25;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	9	0	1	0
chr6	41806238	41806238	G	C	exonic	USP49	.	nonsynonymous SNV	USP49:NM_001384542:exon3:c.C746G:p.A249G,USP49:NM_001286554:exon4:c.C746G:p.A249G,USP49:NM_018561:exon4:c.C746G:p.A249G	.	415	1098	8	1	0	10	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0004	0.00519169	0.0032	0	8.839e-05	0.0001	0	0.0006	0.0012	0.0202	0.0026778	414	154602	rs199768863	0.0014	0.0014	0.0009	0.0020	0.0187	0.0014	0.0013	0.0180	0.0177	5.975e-05	2.236e-05	0.0063	2.519e-05	0	0.0005	0.0001	0.0021	0.0187	0.0009	0.0009	0.0006	0.0012	0.0213	0.0008	0.0007	0.0180	0.0167	4.81e-05	0	6.532e-05	0.0069	0.0002	0	0	4.412e-05	0	0.0213	0.007	0.59928	D	0.001	0.83351	D	0.246	0.31102	B	0.138	0.33406	B	0.000049	0.53742	D	0.166764	0.997734	0.44143	D	0	0.06538	N	3.71	0.72889	T	-2.05	0.47852	N	0.11	0.10911	-1.0206	0.23519	T	0.101	0.37316	T	10	0.0052627027	0.00115	T	.	.	.	0.036	0.09122	.	.	0.45212351173	0.44835	0.4759076027485112	0.47509	1.02685030857	0.75306	0.689787089825	0.65676	T	0.033222	0.22822	T	-0.443527	0.01233	T	-0.394277	0.34051	T	0.0340838584016603	0.02652	T	0.90321	0.69967	D	0.17794572	0.38788	0.21373457	0.45895	0.17794572	0.38787	0.21373457	0.45894	-7.956	0.60948	D	.	.	0.235	0.50799	B	.;.;.	.;.;.	3.663316	0.52058	23.2	0.99340069357599914	0.60131	0.97582	0.75697	D	AEFBI	0.528459	0.54997	D	-0.217572239472958	0.32412	1.827677	-0.0916801425904128	0.35734	2.070842	0.997753819789451	0.35989	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.491896	0.07777	0	.	.	4.26	3.39	0.37919	4.282000	0.58764	11.329000	0.92538	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0869:0.0:0.9131:0.0	11.823	0.51526	479	0.77495	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1281.43	39	chr6	41806238	.	G	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.75;DP=460;ExcessHet=0;FS=0.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.465;SOR=0.579	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1392	9	0	1	0
chr6	41806517	41806517	C	T	exonic	USP49	.	nonsynonymous SNV	USP49:NM_001384542:exon3:c.G467A:p.R156Q,USP49:NM_001286554:exon4:c.G467A:p.R156Q,USP49:NM_018561:exon4:c.G467A:p.R156Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0336589532028	0.0003	0.000798722	0.0010	0.0003	9.346e-05	0	0.0054	0.0013	0.0041	6.444e-05	0.0008215	127	154602	rs192438668	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	8.97e-05	0.0002	0	0	0.0053	0.0004	0.0006	0.0005	0.0002	0.0008	0.0008	0.0007	0.0009	0.0007	0.0007	0.0006	0.0005	0.0005	0.0001	0	0.0003	0	0	0.0055	0	0.0007	0.0005	0.0002	0.097	0.31532	T	0.142	0.34359	T	0.99	0.63424	D	0.733	0.55393	P	0.000027	0.55875	D	0.121135	0.960782	0.38199	D	2.11	0.58565	M	3.67	0.07478	T	-1.9	0.44657	N	0.196	0.24883	-1.0839	0.06609	T	0.025	0.10910	T	10	0.008580953	0.00194	T	0.033659	0.55136	D	0.091	0.26358	.	.	0.290620346082	0.28682	0.8522228639218259	0.85184	0.995478120386	0.74213	0.788092076778	0.80153	T	0.046562	0.27461	T	-0.476766	0.00773	T	-0.525094	0.19781	T	0.0973705053329468	0.12065	T	0.889011	0.61998	D	0.24691473	0.47665	0.18094975	0.40927	0.24691473	0.47665	0.18094975	0.40927	-4.538	0.31382	T	.	.	0.086	0.11701	B	.;.;.	.;.;.	3.845360	0.55667	23.6	0.99822575776863964	0.90502	0.93203	0.57594	D	AEFDBI	0.470463	0.51641	N	0.388969392548312	0.60824	4.27571	0.356319278554848	0.58888	4.062458	0.933535833521334	0.27133	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.46	4.46	0.53567	3.060000	0.49648	5.859000	0.50413	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.0:1.0:0.0:0.0	16.898	0.85974	479	0.77495	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.001359	0.002924	0.000000	0.000000	0.003106	0.000000	0.05	816.43	60	chr6	41806517	.	C	T	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.741;DP=393;ExcessHet=0;FS=1.053;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=1.18;SOR=0.454	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	9	0	1	0
chr6	41921747	41921747	C	T	exonic	BYSL	.	nonsynonymous SNV	BYSL:NM_004053:exon1:c.C185T:p.A62V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0381024578991	.	.	5.292e-05	0	0	0	0	9.651e-05	0	0	4.53e-05	7	154602	rs763354121	7.39e-05	7.456e-05	7.353e-05	7.428e-05	0.0002	6.25e-05	5.809e-05	1.663e-05	1.425e-05	0	2.237e-05	0.0024	0	0	0.0002	2.428e-05	0.0003	0	9.869e-05	9.852e-05	0.0001	9.432e-05	6.55e-05	6.014e-05	4.886e-05	1.973e-05	1.125e-05	0	0	6.55e-05	0.0026	0	0	0	5.884e-05	0.0005	0	0.023	0.48186	D	0.032	0.53426	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.825	0.82220	M	2.02	0.21119	T	-3.27	0.65512	D	0.757	0.75559	-1.0091	0.27198	T	0.114	0.40650	T	10	0.43611276	0.57804	T	0.038102	0.58023	D	0.292	0.61157	.	.	0.654621790735	0.65174	0.6819422600906084	0.68133	1.12514127165	0.78428	0.773722350597	0.77982	T	0.498762	0.82006	T	0.039553	0.56986	T	-0.0450499	0.67361	D	0.96232408285141	0.66335	D	0.956004	0.83260	D	0.5563143	0.70306	0.54070914	0.73456	0.5563143	0.70307	0.54070914	0.73456	-9.237	0.69210	D	.	.	0.635	0.70312	P	.	.	5.340268	0.89600	31	0.99919080683101391	0.98586	0.95134	0.63563	D	ALL	0.814622	0.73680	D	0.813756347219598	0.86959	9.055688	0.77779715050407	0.88212	9.497806	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.11	5.11	0.69188	6.639000	0.74170	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	18.310	0.90135	667	0.61242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	665.43	33	chr6	41921747	.	C	T	665.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.691;SOR=0.765	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,750	9	0	1	0
chr6	42178814	42178814	A	G	exonic	GUCA1A	.	nonsynonymous SNV	GUCA1A:NM_001384910:exon3:c.A364G:p.I122V,GUCA1A:NM_001319062:exon4:c.A364G:p.I122V,GUCA1A:NM_000409:exon5:c.A364G:p.I122V,GUCA1A:NM_001319061:exon5:c.A364G:p.I122V	Cone dystrophy-3, Autosomal dominant;Cone-rod dystrophy 14, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177235	not_provided|Cone_dystrophy_3|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0011193,MedGen:C1865869,OMIM:602093,Orphanet:1872|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.374	0.0438338464583	0.0002	.	0.0001	0	0	0.0001	0	0.0001	0	0.0002	9.06e-05	14	154602	rs372323165	7.324e-05	7.456e-05	5.993e-05	8.667e-05	0.0005	6.184e-05	5.745e-05	0.0001	9.452e-05	0	6.708e-05	0.0008	5.038e-05	0	0.0005	5.039e-05	9.939e-05	0.0002	1.972e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.012	0.54683	D	0.314	0.25748	T	0.042	0.21471	B	0.026	0.20792	B	0.000272	0.00546	U	7.913040	0.999965	0.52935	D	2.25	0.63811	M	-0.54	0.70950	T	-0.46	0.14978	N	0.469	0.53884	-0.8489	0.52044	T	0.230	0.59620	T	10	0.18635753	0.34097	T	0.043834	0.61186	D	0.374	0.69273	.	.	0.597841522426	0.59464	0.4979039659284777	0.49711	0.200253667059	0.22427	0.5781468153	0.49825	T	0.184893	0.53769	T	-0.149352	0.28414	T	-0.192631	0.55342	T	0.0959443583489875	0.11904	T	0.882412	0.60266	D	0.23543674	0.46379	0.2713148	0.53031	0.23543674	0.46379	0.2713148	0.53030	-3.761	0.20223	T	0.2828258516067627	0.37840	0.204	0.44462	B	.;.;.;.	.;.;.;.	3.737450	0.53497	23.4	0.99643808296730874	0.76819	0.96814	0.71082	D	AEFDBI	0.849482	0.76630	D	0.0956469931508233	0.46258	2.869076	0.222418550221471	0.51093	3.29494	0.999999999839896	0.74766	0.766844	0.99359	0	0.547309	0.14657	0	0.851219	0.99655	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	7.088000	0.76565	10.996000	0.84725	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	12.009	0.52568	752	0.51611	EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1775.43	42	chr6	42178814	.	A	G	1775.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.609;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.104;SOR=0.675	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1223	9	0	1	0
chr6	42678663	42678663	A	T	exonic	UBR2	.	nonsynonymous SNV	UBR2:NM_001363705:exon41:c.A4603T:p.I1535F,UBR2:NM_015255:exon41:c.A4603T:p.I1535F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0041891678197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.035	0.53072	D	0.0	0.02946	B	0.0	0.04355	B	0.279544	0.14971	N	0.676738	1	0.19781	N	-0.55	0.02420	N	0.72	0.50976	T	-1.14	0.29323	N	0.088	0.06587	-0.9557	0.39970	T	0.009	0.03096	T	10	0.032968134	0.01461	T	0.004189	0.10089	T	0.042	0.11227	0.308	0.27967	0.0934897674506	0.08844	0.4069037308018353	0.40606	0.643157423947	0.57862	0.395205527544	0.24400	T	0.160703	0.50466	T	-0.308504	0.07881	T	-0.680921	0.06927	T	0.0928278639912605	0.11550	T	0.728327	0.34315	T	0.0433246	0.06732	0.048896685	0.07357	0.0433246	0.06731	0.048896685	0.07357	-2.221	0.04143	T	.	.	0.071	0.04436	B	.;.	.;.	0.886733	0.12600	9.128	0.75975362157612869	0.11284	0.21728	0.21503	N	AEFBI	0.071557	0.14251	N	-1.75392279358119	0.00668	0.02881813	-1.69898121835062	0.01142	0.05135233	0.999963070984271	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.26	-7.78	0.01086	-0.158000	0.10058	1.154000	0.24503	-0.040000	0.17491	0.326000	0.25555	0.998000	0.33993	0.978000	0.57271	0.2089:0.5188:0.1135:0.1588	5.553	0.16386	529	0.73716	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	968.43	37	chr6	42678663	.	A	T	968.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.684;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.65;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	9	0	1	0
chr6	42745487	42745487	T	C	exonic	TBCC	.	nonsynonymous SNV	TBCC:NM_003192:exon1:c.A587G:p.K196R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0230696324998	.	.	9.312e-06	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs747041669	1.37e-06	1.368e-06	1.362e-06	1.377e-06	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	2.258e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.04081	T	0.287	0.21210	T	0.012	0.16265	B	0.062	0.26930	B	0.001123	0.40136	N	0.268180	0.939648	0.37268	D	2.47	0.71715	M	-1.0	0.76037	T	-0.78	0.21644	N	0.168	0.17828	-0.9692	0.37366	T	0.135	0.44875	T	10	0.07663259	0.11996	T	0.02307	0.46009	T	0.142	0.37995	0.372	0.38340	0.537262924806	0.53376	0.6791546308973043	0.67854	.	.	0.402836292982	0.25464	T	0.017635	0.14352	T	-0.276615	0.11030	T	-0.452347	0.27436	T	0.0817720362510145	0.10213	T	0.70163	0.31127	T	0.11132611	0.26309	0.12608822	0.30372	0.11132611	0.26309	0.12608822	0.30371	-3.337	0.14219	T	.	.	0.118	0.24054	B	.	.	2.582406	0.33487	19.35	0.91494635040747962	0.20768	0.78062	0.38459	D	ALL	0.376261	0.46047	N	-0.38408761096165	0.26036	1.417872	-0.245952724110293	0.29911	1.679674	0.999999998875378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.1	2.45	0.28953	1.776000	0.38223	2.729000	0.34373	0.609000	0.47794	0.997000	0.40164	0.999000	0.35428	0.970000	0.54328	0.454:0.0:0.0:0.546	9.665	0.39143	575	0.70088	Tubulin binding cofactor C-like domain|C-CAP/cofactor C-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1028.43	34	chr6	42745487	.	T	C	1028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.595;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.23;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	9	0	1	0
chr6	43048336	43048336	G	C	exonic	CUL7	.	nonsynonymous SNV	CUL7:NM_001168370:exon8:c.C2155G:p.L719V,CUL7:NM_001374872:exon8:c.C2155G:p.L719V,CUL7:NM_001374873:exon8:c.C2059G:p.L687V,CUL7:NM_001374874:exon8:c.C2059G:p.L687V,CUL7:NM_014780:exon8:c.C2059G:p.L687V	3-M syndrome 1, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0525966765396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.993	0.65571	D	0.93	0.66466	D	0.956720	0.07691	N	1.017660	0.750286	0.29645	N	3.07	0.87108	M	-0.36	0.68754	T	-2.0	0.46146	N	0.469	0.50508	-0.6308	0.63537	T	0.322	0.69064	T	10	0.62080073	0.67966	D	0.052597	0.65133	D	0.405	0.71791	0.523	0.62668	0.751722793294	0.74947	0.45029409834330875	0.44947	0.439492444205	0.43977	0.398827075958	0.24905	T	0.395761	0.75456	T	0.146328	0.68923	D	-0.0275865	0.68528	D	0.856377840042114	0.50724	D	0.815518	0.47040	T	0.12674294	0.29678	0.14479244	0.34363	0.12674294	0.29677	0.14479244	0.34362	-7.768	0.59478	D	0.2988888718162691	0.39611	0.226	0.48654	B	.;.	.;.	5.163013	0.86510	28.9	0.99681348515400103	0.79307	0.88809	0.48918	D	AEFDBI	0.123821	0.23960	N	0.297221915386605	0.56008	3.764964	0.181723109436791	0.48846	3.095172	0.997211630241908	0.35382	0.706548	0.73137	0	0.702456	0.74545	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.89	3.99	0.45527	1.567000	0.36016	3.375000	0.37961	0.672000	0.70159	0.963000	0.33788	1.000000	0.68203	0.037000	0.13953	0.211:0.0:0.789:0.0	7.235	0.25236	192	0.92531	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1542.43	33	chr6	43048336	.	G	C	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.365;DP=457;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.18;SOR=0.815	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1242	9	0	1	0
chr6	43144544	43144544	G	T	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_152881:exon12:c.G1955T:p.R652L,PTK7:NM_152880:exon14:c.G2225T:p.R742L,PTK7:NM_152882:exon14:c.G2177T:p.R726L,PTK7:NM_001270398:exon15:c.G2369T:p.R790L,PTK7:NM_002821:exon15:c.G2345T:p.R782L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.750	0.406961162469	.	.	7.427e-05	0	0	0.0005	0	3.001e-05	0.0011	0.0001	6.47e-05	10	154602	rs746367585	7.046e-05	7.114e-05	7.215e-05	6.876e-05	0.0009	5.913e-05	5.523e-05	0.0006	0.0006	0	0	0	0.0009	0	0	2.698e-05	0.0002	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.018	0.65419	D	0.001	0.83351	D	0.468	0.53479	P	0.213	0.60107	B	0.000000	0.84330	D	0.052940	0.999997	0.58761	D	1.905	0.50856	L	-2.41	0.88533	D	-3.39	0.67241	D	0.842	0.83781	0.494	0.90460	D	0.691	0.89331	D	10	0.32541254	0.49852	T	0.406961	0.93517	D	0.750	0.91413	0.368	0.37687	0.730444620846	0.72804	0.3992564687988433	0.39840	0.480654688563	0.47082	0.614931225777	0.55012	T	0.400	0.75784	T	0.0402801	0.57082	T	0.162814	0.80979	D	0.122018768362937	0.14626	T	0.931607	0.74555	D	0.43917695	0.63350	0.27998865	0.53971	0.43917695	0.63350	0.27998865	0.53970	-10.538	0.80062	D	.	.	0.128	0.46238	B	.;.;.;.;.;.	.;.;.;.;.;.	3.810618	0.54964	23.6	0.99740477766539326	0.83482	0.98781	0.86770	D	AEFDBI	0.917481	0.88516	D	0.233921266621625	0.52848	3.456633	0.288624603283167	0.54874	3.651265	0.999999999240903	0.74766	0.719381	0.83141	0	0.670034	0.63936	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.49	4.61	0.56724	7.344000	0.78567	9.887000	0.82244	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0711:0.0:0.9289:0.0	14.565	0.67763	236	0.90801	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2639.43	36	chr6	43144544	.	G	T	2639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.113;DP=464;ExcessHet=0;FS=2.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=-1.92;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1079:.	9	0	1	0
chr6	43187720	43187720	G	C	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon7:c.G1589C:p.G530A	.	474	1030	17	1	0	19	0.00913901	.	.	.	2823052	not_provided|CUL9-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.124	.	0.0081	0.00419329	0.0072	0.0024	0.0037	0	0.0132	0.0103	0.0112	0.0016	0.007322	1132	154602	rs61739483	0.0091	0.0091	0.0092	0.0090	0.0111	0.0090	0.0089	0.0101	0.0100	0.0018	0.0046	0.0141	0	0.0108	0.0111	0.0103	0.0083	0.0015	0.0069	0.0069	0.0069	0.0069	0.0098	0.0066	0.0064	0.0092	0.0089	0.0020	0.0055	0.0050	0.0130	0.0002	0.0140	0.0068	0.0098	0.0104	0.0008	0.085	0.32929	T	0.029	0.54541	D	0.009	0.15093	B	0.004	0.10090	B	0.050672	0.02015	N	1.987250	1	0.08975	N	1.935	0.51832	L	-0.64	0.72125	T	-0.47	0.15178	N	0.112	0.09914	-1.0106	0.26729	T	0.099	0.36856	T	10	0.004929602	0.00106	T	.	.	.	0.124	0.34239	.	.	0.379559396232	0.37572	0.22434815014933449	0.22349	0.36479059056	0.38090	0.228973686695	0.01893	T	0.08527	0.37465	T	-0.525845	0.00406	T	-0.515792	0.20722	T	0.00875300935803619	0.00108	T	0.464354	0.13557	T	0.03551936	0.04196	0.043465547	0.05414	0.03551936	0.04196	0.043465547	0.05414	-3.919	0.22587	T	.	.	0.101	0.24599	B	.;.	.;.	0.780912	0.11512	8.110	0.92500138968775358	0.21936	0.60493	0.31211	D	AEFDBI	0.068857	0.13603	N	-0.532126256349192	0.21048	1.114139	-0.466610946254928	0.23079	1.256802	0.999441453182413	0.39736	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.61	0.888	0.18340	0.965000	0.28916	1.505000	0.26983	-0.169000	0.11342	0.763000	0.29277	0.888000	0.27792	0.487000	0.28723	0.4113:0.1688:0.2488:0.1712	0.723	0.00884	309	0.87553	.;.	.	.	.	.	rs61739483	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.000000	0.008152	0.008772	0.050000	0.060345	0.009146	0.003788	0.05	913.43	36	chr6	43187720	.	G	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=408;ExcessHet=0;FS=5.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.847;SOR=1.341	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr6	43206170	43206170	C	G	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon25:c.C4957G:p.Q1653E	.	3	1493	25	1	0	27	0.00896117	.	.	.	2823056	not_provided|CUL9-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	.	0.0035	0.00419329	0.0073	0.0024	0.0040	0	0.0134	0.0103	0.0115	0.0016	0.0067916	1050	154602	rs142418416	0.0089	0.0089	0.0090	0.0087	0.0113	0.0087	0.0087	0.0098	0.0097	0.0018	0.0046	0.0139	0	0.0108	0.0113	0.0099	0.0081	0.0015	0.0068	0.0068	0.0068	0.0068	0.0096	0.0065	0.0063	0.0090	0.0087	0.0020	0.0055	0.0052	0.0130	0.0002	0.0138	0.0068	0.0096	0.0099	0.0010	0.044	0.41096	D	0.116	0.36497	T	0.003	0.11197	B	0.009	0.14300	B	0.000402	0.44736	N	0.233673	0.814351	0.36934	D	1.68	0.43186	L	-0.74	0.73205	T	-1.4	0.34596	N	0.308	0.34767	-0.7110	0.59903	T	0.204	0.56114	T	10	0.0067023337	0.00152	T	.	.	.	0.110	0.31079	.	.	0.409069985131	0.40521	0.3891948001785718	0.38834	0.489810199868	0.47734	0.363035976887	0.19827	T	0.232361	0.59890	T	-0.378587	0.03180	T	-0.304914	0.44203	T	0.0123168712985461	0.00200	T	0.845015	0.53247	T	0.2174411	0.44227	0.2518575	0.50804	0.2174411	0.44227	0.2518575	0.50803	-8.452	0.64111	D	.	.	0.107	0.19998	B	.;.	.;.	2.846380	0.37571	20.5	0.97788199928553543	0.35982	0.97264	0.73666	D	AEFBI	0.508009	0.53807	D	-0.00229966961702252	0.41752	2.503011	0.164421785088642	0.47911	3.014347	0.979522052657067	0.30037	0.615465	0.37627	0	0.633656	0.55848	0	0.616094	0.41390	0	0.635551	0.53088	0	.	.	5.23	4.31	0.50718	4.687000	0.61396	6.087000	0.53406	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8646:0.1354:0.0	17.385	0.87303	364	0.84707	Cullin, N-terminal|Cullin homology domain;Cullin, N-terminal|Cullin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010585	0.000000	0.008152	0.008772	0.050000	0.051724	0.009202	0.007576	0.05	855.43	35	chr6	43206170	.	C	G	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.9;DP=365;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.86;ReadPosRankSum=-0.558;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1135:.	9	0	1	0
chr6	43220537	43220537	C	G	exonic	CUL9	.	nonsynonymous SNV	CUL9:NM_015089:exon32:c.C6361G:p.P2121A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0307426047536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.25873	T	0.361	0.16964	T	0.044	0.21686	B	0.014	0.16862	B	0.001358	0.39310	N	0.261255	0.988156	0.40713	D	1.7	0.43825	L	-0.71	0.72889	T	-1.89	0.45042	N	0.388	0.42931	-0.8524	0.51802	T	0.171	0.51245	T	10	0.16432378	0.30746	T	0.030743	0.52991	D	0.152	0.39956	0.453	0.51612	0.462582042978	0.45884	0.37736842857596514	0.37651	0.361371359412	0.37794	0.51121878624	0.40393	T	0.088877	0.38253	T	-0.00508103	0.50952	T	-0.245075	0.50301	T	0.645442187786102	0.38267	D	0.919208	0.71352	D	0.07244557	0.16115	0.067432836	0.13950	0.07244557	0.16115	0.067432836	0.13950	-5.748	0.44119	T	.	.	0.073	0.06024	B	.;.	.;.	2.621548	0.34067	19.52	0.98822405222291565	0.46802	0.92520	0.55904	D	AEFDBCI	0.443495	0.50078	N	-0.0877871116073661	0.37927	2.213749	0.0539144756381309	0.42262	2.553121	0.999999999784991	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.44	4.57	0.55860	3.905000	0.56046	3.998000	0.41048	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.9271:0.0:0.0729	14.053	0.64274	377	0.83897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2566.43	222	chr6	43220537	.	C	G	2566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.85;DP=554;ExcessHet=0;FS=0.493;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.61;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	9	0	1	0
chr6	43348445	43348445	A	T	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon6:c.T2951A:p.I984N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	.	0.00219649	0.0009	9.612e-05	8.637e-05	0	0	1.498e-05	0	0.0068	0.0008215	127	154602	rs200879474	0.0004	0.0004	0.0002	0.0006	0.0071	0.0004	0.0004	0.0066	0.0064	0	2.236e-05	0	0	0	0.0005	1.799e-06	0.0005	0.0071	0.0003	0.0003	0.0002	0.0005	0.0098	0.0003	0.0002	0.0075	0.0068	7.222e-05	0	0	0	0	0	0	0	0	0.0098	0.001	0.78490	D	0.043	0.49942	D	0.988	0.62325	D	0.837	0.59984	P	0.000525	0.43581	D	0.239316	0.603643	0.34850	D	2.3	0.65703	M	2.33	0.16492	T	-2.0	0.46146	N	0.582	0.60325	-1.0346	0.18983	T	0.063	0.26172	T	10	0.004310578	0.00087	T	.	.	.	0.129	0.35316	0.189	0.09907	0.533325340949	0.52981	0.2491202305777943	0.24826	0.477027003376	0.46822	0.525344610214	0.42379	T	0.183588	0.53598	T	-0.396855	0.02428	T	-0.339385	0.40414	T	0.123587241737642	0.14778	T	0.89791	0.64303	D	0.39195234	0.60170	0.37551263	0.62694	0.39195234	0.60171	0.37551263	0.62693	-9.636	0.71703	D	.	.	0.621	0.69730	P	.	.	4.556541	0.71761	25.7	0.99410894136725292	0.63263	0.96034	0.67234	D	AEFGBI	0.467509	0.51471	N	0.497183944019686	0.66925	5.013714	0.567742900786107	0.72642	5.841954	0.999996838982928	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.750000	0.61857	11.092000	0.85948	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9301:0.0:0.0699:0.0	10.827	0.45844	177	0.93145	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1706.43	35	chr6	43348445	.	A	T	1706.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.875;DP=552;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-1.626;SOR=0.546	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1327	9	0	1	0
chr6	43369254	43369254	G	C	exonic	ZNF318	.	nonsynonymous SNV	ZNF318:NM_014345:exon1:c.C112G:p.R38G	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.701909178479	.	0.000199681	0.0023	0	.	0	.	0	0	0.0028	0.0002846	44	154602	rs535382812	0.0049	0.0042	0.0049	0.0049	0.0050	0.0048	0.0047	0.0049	0.0049	0.0006	0.0009	0.0012	0	0.0218	0.0003	0.0050	0.0034	0.0015	0.0040	0.0040	0.0031	0.0049	0.0041	0.0037	0.0036	0.0037	0.0035	0.0005	0	0.0007	0.0012	0	0.0277	0.0034	0.0041	0.0038	0.0017	0.013	0.53900	D	0.613	0.07617	T	0.351	0.33667	B	0.023	0.19966	B	.	.	.	.	0.923464	0.27237	N	0.895	0.22405	L	4.19	0.02716	T	0.32	0.03955	N	0.269	0.30461	-0.8954	0.48446	T	0.002	0.00707	T	9	0.0040543973	0.00079	T	0.701909	0.97562	D	0.020	0.03691	.	.	0.12205267543	0.11705	0.30220818813039835	0.30133	0.0794955650032	0.08942	0.886402606964	0.94805	D	0.012493	0.10973	T	-0.526165	0.00405	T	-0.528309	0.19456	T	0.135818778229718	0.15910	T	0.458554	0.13215	T	0.113286674	0.26757	0.20436041	0.44557	0.113286674	0.26757	0.20436041	0.44556	-5.332	0.40259	T	.	.	0.193	0.41357	B	.	.	3.531200	0.49542	22.8	0.88211510470192345	0.17801	0.34168	0.25003	N	AEFDBHCIJ	0.092393	0.18706	N	-0.469136645120474	0.23096	1.237899	-0.411232128573418	0.24668	1.352094	0.999999338538378	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.87	1.96	0.25203	1.032000	0.29786	6.493000	0.55764	0.407000	0.20612	0.882000	0.31029	1.000000	0.68203	0.647000	0.32611	0.0:0.0:0.7292:0.2708	7.043	0.24210	268	0.89479	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	205.43	33	chr6	43369254	.	G	C	205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.778;DP=308;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.333;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,922	9	0	1	0
chr6	43505568	43505568	C	T	exonic	TJAP1	.	stopgain	TJAP1:NM_001146020:exon9:c.C1357T:p.R453X,TJAP1:NM_001146017:exon10:c.C1387T:p.R463X,TJAP1:NM_001146019:exon10:c.C1357T:p.R453X,TJAP1:NM_001350564:exon10:c.C1387T:p.R463X,TJAP1:NM_001350566:exon10:c.C1387T:p.R463X,TJAP1:NM_001350568:exon10:c.C1387T:p.R463X,TJAP1:NM_001350569:exon10:c.C1357T:p.R453X,TJAP1:NM_080604:exon10:c.C1357T:p.R453X,TJAP1:NM_001146016:exon11:c.C1387T:p.R463X,TJAP1:NM_001146018:exon11:c.C1357T:p.R453X,TJAP1:NM_001350562:exon11:c.C1387T:p.R463X,TJAP1:NM_001350563:exon11:c.C1387T:p.R463X,TJAP1:NM_001350565:exon11:c.C1387T:p.R463X,TJAP1:NM_001350567:exon11:c.C1387T:p.R463X,TJAP1:NM_001350570:exon11:c.C1357T:p.R453X,TJAP1:NM_001350561:exon12:c.C1387T:p.R463X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.673e-05	0	0	0	0.0002	1.525e-05	0	0	1.29e-05	2	154602	rs200207672	2.737e-05	2.736e-05	2.859e-05	2.613e-05	3.058e-05	2.063e-05	1.816e-05	2.201e-05	1.942e-05	2.987e-05	0	0	2.519e-05	1.888e-05	0	3.058e-05	1.656e-05	2.319e-05	6.57e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.113779	0.19302	N	0.587101	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.154	0.16308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449926	0.92479	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;Recessive;Recessive	.;High;.;.;.;High;High	6.051817	0.94442	34	0.99271692099484543	0.57593	0.44910	0.27422	N	AEFBI	0.147336	0.27099	N	-0.0366512961968197	0.40202	2.383383	-0.34069874245975	0.26797	1.482576	0.999998924800914	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.53	3.74	0.42108	1.189000	0.31723	0.381000	0.17781	-0.873000	0.02525	0.157000	0.23755	0.000000	0.08366	0.002000	0.04165	0.0:0.8001:0.1302:0.0697	11.004	0.46835	224	0.91330	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1698.43	37	chr6	43505568	.	C	T	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.326;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.041;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	9	0	1	0
chr6	43553416	43553416	A	G	exonic	XPO5	.	nonsynonymous SNV	XPO5:NM_020750:exon14:c.T1529C:p.L510S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.00614673704469	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs918045040	4.817e-06	5.473e-06	5.47e-06	4.156e-06	5.416e-06	2e-06	1.29e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.416e-06	1.663e-05	0	2.629e-05	2.627e-05	3.855e-05	1.345e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.049	0.39820	D	0.205	0.27145	T	0.0	0.02946	B	0.001	0.04355	B	0.014884	0.28400	N	0.374411	0.620042	0.30788	N	0.695	0.17993	N	-0.59	0.71543	T	-3.76	0.71276	D	0.357	0.39861	-1.0509	0.14147	T	0.086	0.33578	T	10	0.24167225	0.41349	T	0.006147	0.16111	T	0.246	0.55340	0.551	0.66716	0.318725805183	0.31479	0.5481017413941294	0.54736	0.527734072401	0.50377	0.400847673416	0.25187	T	0.365502	0.73091	T	-0.0343083	0.46788	T	-0.287058	0.46078	T	0.40423721075058	0.29101	T	0.638236	0.25169	T	0.35169512	0.57198	0.24354513	0.49800	0.35169512	0.57198	0.24354513	0.49799	-10.685	0.77902	D	.	.	0.162	0.35767	B	.	.	3.207423	0.43650	21.8	0.9933972776342973	0.60131	0.88373	0.48271	D	AEFBI	0.176315	0.30352	N	-0.140480786579472	0.35641	2.049767	0.057691036119573	0.42444	2.567377	0.552085577578993	0.21342	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	4.44	0.53164	2.729000	0.46998	9.237000	0.79396	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.6405:0.2149:0.1446:0.0	4.108	0.09518	219	0.91485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1064.43	34	chr6	43553416	.	A	G	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.914;DP=442;ExcessHet=0;FS=2.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-1.247;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	847.28	87	chr6	44229406	.	C	T	847.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.766;DP=1080;ExcessHet=4.5998;FS=191.883;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.722;SOR=10.911	GT:AD:DP:GQ:PL	0/1:85,49:134:99:230,0,1455	1	0	6	3
chr6	44273490	44273490	C	G	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon2:c.C560G:p.A187G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0180417461878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.185e-07	6.84e-07	0	1.46e-06	1.264e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.264e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.021	0.58089	D	0.964	0.90584	D	0.741	0.84481	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	.	.	.	-2.66	0.56945	D	0.638	0.65074	-0.0862	0.80413	T	0.463	0.79190	T	9	0.6321286	0.68577	D	0.018042	0.39967	T	0.307	0.62838	0.688	0.82558	0.136095386433	0.13204	0.6023350358830468	0.60164	.	.	0.834941506386	0.87321	D	0.221172	0.58467	T	0.246127	0.78236	D	0.115768	0.77953	D	0.985315203666687	0.76346	D	0.953605	0.82243	D	0.4454949	0.63755	0.39673615	0.64307	0.4454949	0.63756	0.39673615	0.64307	-10.674	0.77840	D	.	.	0.875	0.81170	P	.;.	.;.	5.070418	0.84568	28.3	0.99591846072432055	0.73631	0.98689	0.85611	D	AEFDBI	0.936379	0.93263	D	0.76430280005146	0.83832	8.122137	0.729708723173651	0.84635	8.346977	0.999999999999996	0.74766	0.695654	0.57023	0	0.563428	0.19063	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.98	4.98	0.65679	7.718000	0.83709	7.712000	0.66855	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:1.0:0.0:0.0	18.453	0.90657	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1004.43	33	chr6	44273490	.	C	G	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.261;DP=355;ExcessHet=0;FS=4.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.69;ReadPosRankSum=-0.376;SOR=1.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	9	0	1	0
chr6	45422694	45422714	CAGCAGCAGCAGCAACAGCAG	-	exonic	RUNX2	.	nonframeshift deletion	RUNX2:NM_001278478:exon1:c.118_138del:p.Q51_Q57del,RUNX2:NM_001369405:exon1:c.118_138del:p.Q51_Q57del,RUNX2:NM_001015051:exon3:c.160_180del:p.Q65_Q71del,RUNX2:NM_001024630:exon3:c.160_180del:p.Q65_Q71del	Cleidocranial dysplasia, Autosomal dominant;Cleidocranial dysplasia, forme fruste, dental anomalies only, Autosomal dominant;Cleidocranial dysplasia, forme fruste, with brachydactyly, Autosomal dominant;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, Autosomal dominant	1	1502	4	0	15	19	0.00132979	.	.	.	193463	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0004	0.0013	0.0012	0.0006	0.0018	0.0012	0.0004	0.0003074	8	26028	rs1159091308	0.0014	0.0014	0.0013	0.0014	0.0015	0.0013	0.0013	0.0015	0.0015	0.0006	0.0007	0.0001	0.0009	0.0015	0.0011	0.0015	0.0017	0.0004	0.0016	0.0016	0.0018	0.0013	0.0026	0.0014	0.0013	0.0022	0.0021	0.0010	0	0.0007	0	0.0004	0.0007	0	0.0026	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	777.39	35	chr6	45422693	.	ACAGCAGCAGCAGCAACAGCAG	A	777.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.31;DP=433;ExcessHet=0;FS=0.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-1.048;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr6	46693026	46693026	C	T	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.C4898T:p.P1633L,TDRD6:NM_001168359:exon1:c.C4898T:p.P1633L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00528763075927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	4.085e-06	2.752e-06	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.20456	T	0.28	0.21678	T	0.374	0.34192	B	0.268	0.39801	B	0.009303	0.30420	N	0.351648	0.999265	0.46490	D	2.18	0.61292	M	3.02	0.08986	T	-2.9	0.60827	D	0.768	0.76573	-0.9838	0.34116	T	0.014	0.05705	T	10	0.57178104	0.65359	D	0.005288	0.13525	T	0.134	0.36365	0.539	0.65018	0.429552544315	0.42571	0.5250846278266391	0.52432	0.134854276219	0.15193	0.388861447573	0.23509	T	0.212163	0.57313	T	-0.0339463	0.46842	T	-0.286538	0.46132	T	0.925611853599548	0.58743	D	0.871813	0.57812	D	0.18299714	0.39546	0.123761386	0.29839	0.18299714	0.39546	0.123761386	0.29838	-4.569	0.34812	T	.	.	0.678	0.72062	P	.;.	.;.	3.576580	0.50405	22.9	0.99137022091837701	0.53437	0.88442	0.48372	D	AEFBI	0.213111	0.33872	N	0.18168714270906	0.50319	3.223118	0.335781564370369	0.57655	3.932107	0.00650728158412927	0.11235	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.87	5.87	0.94266	2.827000	0.47813	7.728000	0.67649	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.996000	0.76049	0.0:0.9297:0.0:0.0703	14.366	0.66368	553	0.71930	.;Tudor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1477.43	49	chr6	46693026	.	C	T	1477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.037;DP=552;ExcessHet=0;FS=3.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.044;SOR=1.034	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1500	9	0	1	0
chr6	46693800	46693800	T	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.T5672A:p.F1891Y,TDRD6:NM_001168359:exon1:c.T5672A:p.F1891Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00591174788198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.27663	T	0.392	0.15406	T	0.068	0.23728	B	0.022	0.19653	B	0.347650	0.13865	N	0.685780	1	0.08975	N	1.83	0.48079	L	2.45	0.15028	T	-0.22	0.14193	N	0.305	0.34444	-0.9670	0.37814	T	0.010	0.03856	T	10	0.1196104	0.22639	T	0.005912	0.15400	T	0.017	0.02790	0.224	0.14813	0.165133752707	0.16062	0.07551206283403537	0.07487	0.0340853469794	0.03576	0.35917288065	0.19265	T	0.059704	0.31187	T	-0.252864	0.13749	T	-0.600998	0.12728	T	0.103203538416875	0.12705	T	0.354665	0.08016	T	0.09262234	0.21733	0.065356	0.13236	0.09262234	0.21733	0.065356	0.13235	-3.024	0.10442	T	.	.	0.115	0.23113	B	.;.	.;.	0.848644	0.12204	8.752	0.74798612695432098	0.10831	0.06308	0.12304	N	AEFBI	0.076371	0.15361	N	-0.809314003921284	0.13072	0.6414339	-0.83202314967899	0.13720	0.7132965	2.61253299416941E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.17	2.58	0.30011	0.146000	0.16000	0.622000	0.20140	0.665000	0.62972	0.000000	0.06391	0.021000	0.20819	0.006000	0.07323	0.1699:0.0914:0.1774:0.5613	1.740	0.02772	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	738.43	49	chr6	46693800	.	T	A	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.898;DP=518;ExcessHet=0;FS=6.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.099;SOR=0.272	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1500	9	0	1	0
chr6	46835536	46835536	A	G	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.A2071G:p.M691V	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0622692919711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0056	0.0003	0.0007	0.0011	0.0005	0.0005	0.0005	0.0005	2.993e-05	0.0001	0.0002	5.043e-05	0.0002	0.0011	0.0006	0.0005	0.0003	0	3.94e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.34444	T	0.187	0.28764	T	0.125	0.33788	B	0.091	0.32546	B	0.000016	0.62929	D	0.203816	0.975169	0.25449	N	1.87	0.49600	L	-3.03	0.92307	D	-1.07	0.27876	N	0.185	0.26717	-0.4261	0.71193	T	0.455	0.78749	T	10	0.21792597	0.38419	T	0.062269	0.68600	D	0.291	0.61040	0.584	0.71118	0.823458674668	0.82179	0.7900992211295702	0.78961	0.107214159071	0.12103	0.336288750172	0.15882	T	0.442873	0.78687	T	0.0678163	0.60581	T	-0.140363	0.60086	T	0.520824491977692	0.33396	D	0.627137	0.50934	T	0.19448751	0.41201	0.27899867	0.53864	0.19448751	0.41201	0.27899867	0.53863	-3.831	0.21268	T	.	.	0.088	0.22644	B	.;.	.;.	2.069891	0.26324	17.08	0.96692755762507698	0.30745	0.82209	0.41472	D	AEFBI	0.297309	0.40692	N	-0.0370963294573589	0.40182	2.381876	0.118588714283827	0.45501	2.812055	0.00888613874092547	0.11759	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	5.72	5.72	0.89380	2.463000	0.44715	3.899000	0.40339	0.756000	0.94297	0.952000	0.33172	0.996000	0.32793	0.966000	0.53164	0.9283:0.0:0.0717:0.0	11.103	0.47407	618	0.66225	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	53.43	69	chr6	46835536	.	A	G	53.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.87;DP=603;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.93;MQRankSum=-11.25;QD=0.42;ReadPosRankSum=2.59;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,108,1339:.	9	0	1	0
chr6	46835540	46835540	C	T	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.C2075T:p.A692V	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.100712992318	.	.	1.819e-05	0	0	0	0	3.266e-05	0	0	1.29e-05	2	154602	rs752666180	0.0004	0.0054	0.0002	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	2.994e-05	0.0001	0.0002	0	0.0002	0.0007	0.0005	0.0004	0.0002	0	3.94e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.28395	T	0.145	0.33000	T	0.156	0.35556	B	0.044	0.26930	B	0.000005	0.62929	N	0.141041	0.999982	0.54805	D	1.9	0.50570	L	-3.01	0.92208	D	-2.02	0.46503	N	0.138	0.22098	0.203	0.85965	D	0.597	0.85644	D	10	0.27351117	0.44900	T	0.100713	0.77317	D	0.439	0.74306	0.534	0.64293	0.908269610529	0.90734	0.6772577259841215	0.67664	0.156741707563	0.17697	0.430263519287	0.29244	T	0.423688	0.77436	T	-0.0573178	0.43327	T	-0.186948	0.55874	T	0.650432288646698	0.38480	D	0.79652	0.44001	T	0.13584134	0.31512	0.15856257	0.37023	0.13584134	0.31512	0.15856257	0.37022	-8.302	0.63109	D	.	.	0.161	0.45714	B	.;.	.;.	3.382921	0.46799	22.4	0.99338909696343514	0.60091	0.91834	0.54363	D	AEFBI	0.308494	0.41506	N	0.120843183490676	0.47435	2.969323	0.213030262746499	0.50571	3.247619	0.00428758683802346	0.10487	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	5.72	4.86	0.62624	2.866000	0.48119	1.701000	0.28132	0.599000	0.40250	0.990000	0.36992	0.920000	0.28304	0.947000	0.49155	0.0:0.8594:0.0:0.1406	11.820	0.51508	618	0.66225	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	56.43	69	chr6	46835540	.	C	T	56.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.525;DP=600;ExcessHet=0;FS=1.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.91;MQRankSum=-11.21;QD=0.44;ReadPosRankSum=2.21;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,108,1339:.	9	0	1	0
chr6	46835544	46835544	C	G	exonic	MEP1A	.	nonsynonymous SNV	MEP1A:NM_005588:exon13:c.C2079G:p.S693R	.	425	1087	10	0	0	10	0.00457875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.206163540757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0052	0.0001	0.0004	0.0007	0.0002	0.0002	0.0003	0.0003	2.994e-05	8.986e-05	0.0002	0	0.0002	0.0007	0.0003	0.0002	0.0002	0	3.283e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.012	0.67890	D	0.999	0.90584	D	0.973	0.77976	D	0.000018	0.62929	D	0.182125	0.999993	0.58761	D	1.905	0.50856	L	-3.02	0.92258	D	-1.7	0.40468	N	0.775	0.77226	0.646	0.92495	D	0.765	0.91988	D	10	0.87510014	0.86796	D	0.206164	0.87024	D	0.764	0.92004	0.681	0.81885	0.946697683218	0.94613	0.8905241181353148	0.89022	0.539362224529	0.51165	0.46334451437	0.33769	T	0.549499	0.84720	D	0.277044	0.81062	D	0.160178	0.80818	D	0.955119550228119	0.64428	D	0.863714	0.57479	D	0.30423823	0.53282	0.30467337	0.56495	0.30423823	0.53282	0.30467337	0.56494	-5.083	0.37727	T	.	.	0.647	0.78398	P	.;.	.;.	4.192120	0.63195	24.5	0.99841425907483405	0.92143	0.91478	0.53616	D	AEFBI	0.502391	0.53483	D	0.516204725716185	0.68047	5.163811	0.4949159250942	0.67652	5.112823	9.83085134245952E-4	0.08091	0.55562	0.30534	0	0.563428	0.19063	0	0.68496	0.61776	0	0.542086	0.14980	0	.	.	5.72	4.85	0.62375	1.827000	0.38740	3.853000	0.40098	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.8542:0.0:0.1458	10.606	0.44584	618	0.66225	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	77.43	69	chr6	46835544	.	C	G	77.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.248;DP=593;ExcessHet=0;FS=1.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.84;MQRankSum=-10.89;QD=0.65;ReadPosRankSum=1.4;SOR=0.421	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,108,1339:.	9	0	1	0
chr6	47286508	47286508	C	T	exonic	TNFRSF21	.	nonsynonymous SNV	TNFRSF21:NM_014452:exon2:c.G184A:p.G62S	.	425	1075	22	0	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.0264386121608	0.0035	0.00159744	0.0029	0.0009	0.0010	0	0.0005	0.0037	0	0.0052	0.002956	457	154602	rs148598211	0.0036	0.0036	0.0036	0.0036	0.0058	0.0035	0.0035	0.0053	0.0052	0.0005	0.0011	0.0030	0	0.0006	0.0047	0.0039	0.0032	0.0058	0.0023	0.0023	0.0024	0.0022	0.0040	0.0021	0.0020	0.0036	0.0034	0.0008	0	0.0009	0.0035	0	0.0002	0	0.0040	0.0028	0.0033	0.12	0.27904	T	0.05	0.48080	T	0.351	0.33667	B	0.015	0.17295	B	0.000055	0.53742	D	0.208186	0.997048	0.43591	D	0.73	0.18813	N	-2.24	0.87194	D	-2.69	0.57435	D	0.185	0.20129	-0.4892	0.69037	T	0.295	0.66697	T	10	0.0069099665	0.00157	T	0.026439	0.49346	D	0.273	0.58883	.	.	0.316918214084	0.31302	0.7300857828032995	0.72953	0.361612119172	0.37821	0.344315797091	0.17082	T	0.741215	0.92834	D	-0.416552	0.01800	T	-0.367399	0.37192	T	0.0298752756531394	0.01970	T	0.79622	0.43953	T	0.24703017	0.47678	0.15723139	0.36775	0.24703017	0.47677	0.15723139	0.36774	-8.036	0.61316	D	.	.	0.120	0.24901	B	.	.	3.934782	0.57533	23.9	0.9965826258480196	0.77757	0.90108	0.51030	D	AEFBI	0.304515	0.41219	N	0.0370104509202122	0.43547	2.645408	0.175499329404744	0.48509	3.065823	0.606191661628031	0.21767	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	4.9	0.63643	3.446000	0.52692	4.921000	0.46042	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.978000	0.57271	0.1482:0.6927:0.0:0.1591	6.439	0.21039	826	0.39940	TNFR/NGFR cysteine-rich region|TNFR/NGFR cysteine-rich region|Tyrosine-protein kinase ephrin type A/B receptor-like|Tumor necrosis factor receptor 21, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1227.43	33	chr6	47286508	.	C	T	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.109;DP=415;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.593;SOR=0.614	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	9	0	1	0
chr6	47681503	47681503	C	A	exonic	ADGRF2	.	nonsynonymous SNV	ADGRF2:NM_001368115:exon6:c.C944A:p.T315N,ADGRF2:NM_153839:exon7:c.C740A:p.T247N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00678296627839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	4.104e-06	2.723e-06	4.125e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.102	0.39492	T	0.996	0.70673	D	0.883	0.66185	P	0.001742	0.38106	N	0.183845	0.951974	0.26454	N	.	.	.	0.97	0.42502	T	-1.54	0.37955	N	0.346	0.46928	-1.0184	0.24236	T	0.108	0.39295	T	10	0.15124267	0.28591	T	0.006783	0.17925	T	0.083	0.24192	0.306	0.27646	0.259761712551	0.25597	0.41618726711975756	0.41534	0.0251822954519	0.02561	0.342235088348	0.16772	T	0.023671	0.18025	T	-0.203169	0.20349	T	-0.529614	0.19324	T	0.61580902338028	0.37035	D	0.578742	0.20864	T	0.07447951	0.16716	0.09268537	0.21856	0.07447951	0.16716	0.09268537	0.21856	-5.427	0.41178	T	.	.	0.089	0.11989	B	.;.;.	.;.;.	0.992254	0.13703	10.24	0.98900404800908159	0.48181	0.46946	0.27873	N	AEFI	0.121689	0.23647	N	0.104803147850789	0.46685	2.905258	-0.0162456225995629	0.38980	2.304461	0.00322967831008175	0.10001	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	4.35	0.51454	1.192000	0.31759	-0.678000	0.07901	0.549000	0.26987	0.001000	0.13787	0.000000	0.08366	0.978000	0.57271	0.0:0.7642:0.1539:0.0819	8.517	0.32414	477	0.77662	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2292.43	103	chr6	47681503	.	C	A	2292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.888;DP=1414;ExcessHet=0;FS=4.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.718;SOR=0.736	GT:AD:DP:GQ:PL	0/0:101,0:101:99:0,120,1800	9	0	1	0
chr6	47682327	47682327	C	T	exonic	ADGRF2	.	stopgain	ADGRF2:NM_001368115:exon6:c.C1768T:p.R590X,ADGRF2:NM_153839:exon7:c.C1564T:p.R522X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0009	0	0.0005	0.0066	0	0.0003	0	0.0018	0.0008021	124	154602	rs147106931	0.0004	0.0004	0.0004	0.0004	0.0050	0.0004	0.0004	0.0044	0.0042	0	0.0003	0	0.0050	7.489e-05	0.0003	0.0002	0.0004	0.0017	0.0003	0.0003	0.0003	0.0004	0.0042	0.0002	0.0002	0.0029	0.0024	4.81e-05	0	6.535e-05	0	0.0042	9.409e-05	0	0.0002	0.0009	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	0.000625	0.42799	D	0.099000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.211	0.25006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217649	0.75552	D	0.544146	0.95508	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	2.110934	0.26865	17.27	0.99700686716510489	0.80591	0.29850	0.23930	N	AEFGI	0.218575	0.34356	N	0.524303540426637	0.68531	5.230059	0.327168960504232	0.57143	3.878979	0.00804207447029652	0.11599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.52	4.6	0.56512	0.548000	0.23022	0.822000	0.21862	0.599000	0.40250	0.030000	0.20431	0.030000	0.21233	0.231000	0.22761	0.2654:0.6469:0.0:0.0877	6.521	0.21474	477	0.77662	GPCR, family 2-like;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2923.43	34	chr6	47682327	.	C	T	2923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.01;DP=634;ExcessHet=0;FS=2.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.793;SOR=0.669	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr6	51747954	51747954	G	A	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon58:c.C9662T:p.P3221L,PKHD1:NM_170724:exon58:c.C9662T:p.P3221L	Polycystic kidney and hepatic disease, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	YES	584953	not_provided|Autosomal_recessive_polycystic_kidney_disease|Polycystic_kidney_disease_4|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009889,MeSH:D017044,MedGen:C0085548,Orphanet:731,Orphanet:8378|MONDO:MONDO:0033004,MedGen:C4540575,OMIM:263200|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.649	0.156976184494	7.7e-05	0.000599042	0.0004	0	0.0009	0.0009	0	0.0002	0.0011	0.0009	0.0003558	55	154602	rs145141656	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0001	0.0009	0.0008	0	0.0005	0	0.0005	3.744e-05	0.0014	8.184e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	2.406e-05	0	0.0005	0	0.0017	0	0	0.0001	0.0005	0.0006	0.034	0.44029	D	0.0	0.92824	D	0.999	0.77913	D	0.947	0.68407	D	0.000000	0.84330	D	0.000000	0.999991	0.58761	D	2.685	0.78553	M	-2.19	0.88220	D	-5.01	0.82450	D	0.735	0.73555	0.557	0.91328	D	0.780	0.92533	D	10	0.40283522	0.55688	T	0.156976	0.83765	D	0.649	0.86736	.	.	0.986146681602	0.98600	0.778799825702771	0.77830	0.383681325765	0.39687	0.494530618191	0.38067	T	0.677361	0.90489	D	-0.0569405	0.43385	T	0.0998807	0.76899	D	0.161572201706103	0.17986	T	0.858114	0.54842	D	0.34597814	0.56752	0.32062638	0.58016	0.34597814	0.56752	0.32062638	0.58015	-2.764	0.08156	T	0.9030721398646884	0.95383	0.426	0.60962	A	.;.	.;.	4.610580	0.73108	25.9	0.99889032850872617	0.96359	0.96658	0.70254	D	AEFBI	0.734510	0.68062	D	0.644118176427166	0.75989	6.404379	0.595012324930423	0.74581	6.16148	0.998148392271184	0.36487	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	6.539000	0.73760	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.496000	0.28927	0.0:0.0:1.0:0.0	18.931	0.92542	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1380.43	37	chr6	51747954	.	G	A	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-1.111;SOR=0.701	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	9	0	1	0
chr6	52050187	52050187	C	T	exonic	PKHD1	.	nonsynonymous SNV	PKHD1:NM_138694:exon22:c.G2249A:p.C750Y,PKHD1:NM_170724:exon22:c.G2249A:p.C750Y	Polycystic kidney and hepatic disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3572747	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.857	0.543639638292	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.991026	0.41290	D	2.945	0.84822	M	-3.62	0.95826	D	-9.33	0.98380	D	0.903	0.91852	1.056	0.98243	D	0.927	0.97587	D	10	0.988095	0.99209	D	0.54364	0.95762	D	0.857	0.95618	0.808	0.92512	0.992756816704	0.99267	0.8491856071868055	0.84880	0.480844793395	0.47095	0.461131393909	0.33465	T	0.840969	0.96291	D	0.498611	0.94254	D	0.478443	0.94177	D	0.999687910079956	0.98483	D	0.79532	0.43818	T	0.95990324	0.97270	0.9210192	0.96470	0.95990324	0.97270	0.9210192	0.96470	-3.147	0.11843	T	0.901205412980846	0.95260	0.537	0.66208	A	.;.	.;.	4.235453	0.64170	24.7	0.9973061761065104	0.82761	0.69644	0.34270	D	AEFBCI	0.835788	0.75364	D	0.772340034803587	0.84350	8.263278	0.714733838590211	0.83495	8.03721	0.999999902193635	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.491513	0.07944	0	0.584449	0.35598	0	.	.	5.64	5.64	0.86480	4.888000	0.62855	7.655000	0.63911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.326000	0.25110	0.0:1.0:0.0:0.0	18.705	0.91595	829	0.39537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2629.12	41	chr6	52050187	.	C	T	2629.12	.	AC=2;AF=0.1;AN=20;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.88;SOR=1.055	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2652,264,0	9	1	0	0
chr6	52273751	52273751	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001366375:exon5:c.G697A:p.D233N,MCM3:NM_001270472:exon9:c.G1402A:p.D468N,MCM3:NM_001366369:exon10:c.G1540A:p.D514N,MCM3:NM_001366370:exon10:c.G1540A:p.D514N,MCM3:NM_001366371:exon10:c.G1489A:p.D497N,MCM3:NM_001366372:exon10:c.G1489A:p.D497N,MCM3:NM_001366374:exon10:c.G931A:p.D311N,MCM3:NM_002388:exon10:c.G1540A:p.D514N,MCM3:NM_001366373:exon11:c.G1021A:p.D341N	.	435	1079	7	1	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0130031276609	0.0023	0.00199681	0.0045	0.0008	0.0011	0	0.0054	0.0070	0.0023	0.0006	0.0040944	633	154602	rs41273732	0.0040	0.0040	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0044	0.0005	0.0017	0.0013	0	0.0065	0.0026	0.0046	0.0040	0.0006	0.0028	0.0028	0.0031	0.0026	0.0047	0.0026	0.0025	0.0043	0.0041	0.0007	0	0.0022	0.0014	0	0.0031	0	0.0047	0.0033	0.0008	0.003	0.68238	D	0.032	0.74150	D	0.979	0.59044	D	0.948	0.68536	D	0.000000	0.84330	D	0.046859	1	0.81001	D	1.86	0.49225	L	4.28	0.34050	T	-3.83	0.74051	D	0.36	0.44474	-0.9556	0.39988	T	0.163	0.49930	T	10	0.010209978	0.00228	T	0.013003	0.32054	T	0.277	0.59375	.	.	0.719660668505	0.71719	0.4683618608115827	0.46755	0.263756687781	0.28933	0.698439121246	0.66919	T	0.182108	0.53401	T	-0.472771	0.00817	T	-0.449822	0.27716	T	0.0334107398449504	0.02539	T	0.835616	0.51077	T	0.7180104	0.79051	0.6625154	0.80220	0.7180104	0.79052	0.6625154	0.80221	-6.355	0.49157	T	.	.	0.253	0.79060	B	.;.;.;.;.	.;.;.;.;.	5.184262	0.86933	29.1	0.99905551746587362	0.97651	0.97638	0.76075	D	AEFGBCI	0.914894	0.87890	D	0.624751732856405	0.74743	6.184916	0.663728929125817	0.79637	7.124625	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.31	5.31	0.75063	7.726000	0.83783	7.684000	0.65448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.174	0.93583	581	0.69614	MCM domain;.;.;MCM domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	716.43	35	chr6	52273751	.	C	T	716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.486;DP=367;ExcessHet=0;FS=1.098;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.533;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	9	0	1	0
chr6	52277141	52277141	C	T	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001270472:exon7:c.G953A:p.R318Q,MCM3:NM_001366369:exon8:c.G1091A:p.R364Q,MCM3:NM_001366370:exon8:c.G1091A:p.R364Q,MCM3:NM_001366371:exon8:c.G1040A:p.R347Q,MCM3:NM_001366372:exon8:c.G1040A:p.R347Q,MCM3:NM_001366374:exon8:c.G482A:p.R161Q,MCM3:NM_002388:exon8:c.G1091A:p.R364Q,MCM3:NM_001366373:exon9:c.G572A:p.R191Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.0376508520408	0.0002	.	2.477e-05	0.0002	0	0	0	0	0	6.064e-05	1.94e-05	3	154602	rs150139384	4.105e-06	4.788e-06	5.445e-06	2.75e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	3.597e-06	0	2.319e-05	2.628e-05	2.627e-05	3.853e-05	1.345e-05	9.651e-05	8.14e-06	5.14e-06	3.249e-05	1.915e-05	9.651e-05	0	0	0	0	0	0	0	0	0	0.056	0.38185	T	0.185	0.28958	T	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.98	0.96631	H	2.84	0.10674	T	-3.29	0.65742	D	0.938	0.98268	-0.7819	0.56195	T	0.117	0.41297	T	10	0.85704815	0.84906	D	0.037651	0.57744	D	0.538	0.80664	.	.	0.645699082809	0.64276	0.8981223552556176	0.89783	0.809211086787	0.66662	0.843816280365	0.88676	D	0.405235	0.76147	T	0.0777684	0.61778	D	0.110601	0.77613	D	0.927562177181244	0.59050	D	0.995	0.98241	D	0.7612865	0.81529	0.6008682	0.76811	0.7612865	0.81531	0.6008682	0.76812	-12.72	0.88176	D	.	.	0.458	0.62601	A	.;.;.;.	.;.;.;.	6.012415	0.94339	34	0.99958274569974614	0.99986	0.98848	0.87654	D	AEFDBHCI	0.912409	0.87300	D	1.01031926178275	0.96053	14.24965	0.931238865348496	0.96795	15.15672	1.0	0.98316	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	7.726000	0.83783	7.700000	0.66237	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	19.292	0.94093	591	0.68823	MCM domain|MCM domain|AAA+ ATPase domain;.;.;MCM domain|MCM domain|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	92	chr6	52277141	.	C	T	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=407;ExcessHet=0;FS=7.066;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.275;SOR=1.409	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	9	0	1	0
chr6	52403274	52403274	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C61T:p.R21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0264967686467	.	.	4.32e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs751676049	8.903e-06	9.577e-06	5.449e-06	1.24e-05	0.0002	4.97e-06	3.83e-06	0.0001	9.2e-05	0	0.0002	0	0	0	0	1.801e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.027	0.72224	D	1.0	0.90584	D	0.927	0.66185	D	0.000059	0.53742	D	0.128409	1	0.81001	D	.	.	.	0.82	0.48142	T	-3.23	0.65056	D	0.496	0.52918	-0.7583	0.57498	T	0.170	0.51117	T	10	0.40429464	0.55784	T	0.026497	0.49402	D	0.251	0.56024	.	.	0.758307598439	0.75611	0.62581252890368	0.62514	1.34852957792	0.84031	0.597539544106	0.52557	T	0.278778	0.65144	T	-0.2246	0.17369	T	-0.262839	0.48540	T	0.745931446552277	0.43059	D	0.944805	0.81406	D	0.276474	0.50709	0.20679131	0.44909	0.276474	0.50709	0.20679131	0.44908	-6.321	0.48888	T	.	.	0.122	0.40826	B	.;.;.	.;.;.	5.291379	0.88845	29.8	0.99928539385047799	0.99222	0.99113	0.91417	D	AEFDBI	0.813537	0.73598	D	0.556333252960996	0.70469	5.506012	0.533443650102859	0.70254	5.478261	0.999980120731414	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.3	4.42	0.52775	4.846000	0.62558	5.889000	0.50737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1503:0.8497:0.0:0.0	14.241	0.65505	721	0.55360	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	97.43	34	chr6	52403274	.	C	T	97.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.974;DP=481;ExcessHet=0;FS=50.364;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0.891;SOR=6.273	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	9	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	568.29	157	chr6	52403967	.	A	G	568.29	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.479;DP=1388;ExcessHet=0.7463;FS=107.752;InbreedingCoeff=-0.2121;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.31;SOR=8.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,26:186:81:0|1:52403967_A_G:81,0,6069:52403967	6	0	3	1
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	64.43	41	chr6	52403969	.	C	G	64.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.659;DP=841;ExcessHet=0;FS=110.202;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.42;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,26:188:76:0|1:52403967_A_G:76,0,6083:52403967	9	0	1	0
chr6	52403970	52403970	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757T:p.L253F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00630749574742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.098	0.39040	T	0.002	0.09854	B	0.03	0.21741	B	0.156625	0.17794	N	0.568363	0.978788	0.25225	N	.	.	.	1.35	0.34648	T	-1.54	0.37375	N	0.043	0.01740	-0.9995	0.30058	T	0.022	0.09421	T	9	0.07588753	0.11786	T	0.006307	0.16580	T	0.056	0.15993	0.404	0.43573	0.258283824007	0.25425	0.4649470711667506	0.46413	0.41020588675	0.41812	0.385233283043	0.22995	T	0.083781	0.37132	T	-0.242974	0.14973	T	-0.586792	0.13944	T	0.131729736924171	0.15541	T	0.726327	0.34071	T	0.0702468	0.15457	0.08061282	0.18250	0.0702468	0.15456	0.08061282	0.18250	-4.121	0.25599	T	.	.	0.102	0.17911	B	.;.	.;.	1.645479	0.20997	15.00	0.98230747167124433	0.39387	0.23460	0.22083	N	ALL	0.166227	0.29279	N	-0.569512802825605	0.19875	1.043656	-0.505190822221499	0.22012	1.193515	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	64.43	41	chr6	52403970	.	C	T	64.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.22;DP=842;ExcessHet=0;FS=110.202;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.45;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,26:188:76:0|1:52403967_A_G:76,0,6083:52403967	9	0	1	0
chr6	53013697	53013708	GCAACGGGCTTG	-	exonic	CILK1	.	nonframeshift deletion	CILK1:NM_001375397:exon9:c.1106_1117del:p.P369_L372del,CILK1:NM_001375402:exon9:c.1106_1117del:p.P369_L372del,CILK1:NM_014920:exon9:c.1106_1117del:p.P369_L372del,CILK1:NM_001375398:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_001375400:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_001375401:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_016513:exon10:c.1106_1117del:p.P369_L372del,CILK1:NM_001375399:exon11:c.1106_1117del:p.P369_L372del	.	0	1513	9	0	0	9	0.0029654	.	.	.	586698	Endocrine-cerebro-osteodysplasia_syndrome|Epilepsy,_juvenile_myoclonic,_susceptibility_to,_10|not_specified|CILK1-related_disorder|not_provided	MONDO:MONDO:0012980,MedGen:C2675227,OMIM:612651,Orphanet:199332|MONDO:MONDO:0060671,MedGen:C4693613,OMIM:617924|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0057	0.00339457	0.0074	0.0025	0.0030	0	0.0077	0.0104	0.0055	0.0051	0.0011526	30	26028	rs201964851	0.0095	0.0097	0.0098	0.0092	0.0109	0.0093	0.0093	0.0107	0.0107	0.0009	0.0033	0.0044	0	0.0091	0.0017	0.0109	0.0086	0.0049	0.0061	0.0061	0.0063	0.0059	0.0096	0.0058	0.0057	0.0090	0.0088	0.0020	0	0.0050	0.0026	0	0.0068	0	0.0096	0.0085	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1679.39	39	chr6	53013696	.	AGCAACGGGCTTG	A	1679.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.7;DP=439;ExcessHet=0;FS=7.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.701;SOR=0.995	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1107	9	0	1	0
chr6	53294382	53294382	C	G	exonic	ELOVL5	.	nonsynonymous SNV	ELOVL5:NM_001242831:exon3:c.G168C:p.L56F	Spinocerebellar ataxia 38, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00193000276756	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158443883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.566e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.29	0.04161	N	0.327	0.36779	-0.9903	0.32525	T	0.026	0.10954	T	7	0.06319183	0.08194	T	0.00193	0.03430	T	0.023	0.04649	0.155	0.05858	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.229789	0.16678	T	-0.567853	0.15647	T	0.0992154628038406	0.12270	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.063	0.24743	T	.	.	0.456	0.62503	A	.	.	0.010276	0.04355	1.114	0.95866147464677642	0.28033	0.03408	0.08528	N	AEFDGBHCI	0.030212	0.02998	N	-1.10598644215549	0.06536	0.3011329	-1.21156978930833	0.05724	0.2735052	0.999984464677146	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.779548	0.98927	0	0.629945	0.49285	0	.	.	3.15	-0.513	0.11365	-0.407000	0.07240	0.049000	0.13974	-0.188000	0.09543	0.000000	0.06391	0.001000	0.17328	0.021000	0.11733	0.2299:0.3411:0.2263:0.2027	0.519	0.00569	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1016.43	105	chr6	53294382	.	C	G	1016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.513;DP=437;ExcessHet=0;FS=1.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.97;SOR=0.802	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr6	55174637	55174637	C	T	exonic	HCRTR2	.	nonsynonymous SNV	HCRTR2:NM_001384272:exon1:c.C50T:p.S17F,HCRTR2:NM_001526:exon2:c.C50T:p.S17F	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0327432953336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.022	0.57587	D	0.08	0.24543	B	0.037	0.23121	B	0.014373	0.28553	N	0.310637	0.983961	0.40082	D	1.7	0.43825	L	0.1	0.61326	T	-0.94	0.25118	N	0.259	0.33030	-1.0464	0.15418	T	0.075	0.30179	T	10	0.1408917	0.26775	T	0.032743	0.54489	D	0.166	0.42578	0.345	0.33950	0.808165282019	0.80636	0.662325779544522	0.66169	0.444127125494	0.44328	0.416307598352	0.27329	T	0.101766	0.40885	T	-0.0069767	0.50687	T	-0.247798	0.50034	T	0.372771948575974	0.27904	T	0.808919	0.45897	T	0.16509031	0.36759	0.25509435	0.51186	0.16509031	0.36759	0.25509435	0.51185	-4.353	0.28914	T	.	.	0.083	0.10931	B	.;.	.;.	3.223650	0.43936	21.8	0.97999442855915619	0.37468	0.79437	0.39362	D	AEFBI	0.142648	0.26514	N	-0.219550324462064	0.32331	1.822266	-0.0997468611039154	0.35401	2.047698	0.898596159962312	0.26030	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	4.99	4.1	0.47196	1.639000	0.36791	3.400000	0.38123	0.599000	0.40250	0.080000	0.22340	0.998000	0.33993	0.997000	0.79791	0.0:0.6208:0.2984:0.0808	8.380	0.31627	807	0.43470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2407.43	37	chr6	55174637	.	C	T	2407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.11;DP=544;ExcessHet=0;FS=7.44;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.243;SOR=0.924	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1206	9	0	1	0
chr6	55874486	55874486	A	T	exonic	BMP5	.	nonsynonymous SNV	BMP5:NM_001329754:exon1:c.T380A:p.I127K,BMP5:NM_001329756:exon1:c.T380A:p.I127K,BMP5:NM_021073:exon1:c.T380A:p.I127K	.	424	1049	48	1	0	50	0.0232775	.	.	.	3217204	BMP5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.213	.	0.0044	0.00658946	0.0060	0.0012	0.0044	0	0.0017	0.0064	0.0111	0.0130	0.0057114	883	154602	rs148766592	0.0061	0.0061	0.0058	0.0064	0.0134	0.0060	0.0060	0.0128	0.0125	0.0008	0.0033	0.0007	5.04e-05	0.0016	0.0111	0.0064	0.0052	0.0134	0.0043	0.0043	0.0045	0.0041	0.0125	0.0041	0.0039	0.0099	0.0090	0.0011	0	0.0022	0.0006	0.0002	0.0011	0.0102	0.0072	0.0047	0.0125	0.312	0.13925	T	0.279	0.21745	T	0.0	0.02946	B	0.001	0.04355	B	0.016900	0.27861	N	0.409080	0.999942	0.19238	N	0	0.06538	N	-0.55	0.71068	T	-0.32	0.12283	N	0.306	0.34552	-1.0321	0.19777	T	0.078	0.31103	T	10	0.005883813	0.00132	T	.	.	.	0.213	0.50496	.	.	0.673091222706	0.67032	0.38443853275356543	0.38358	0.364414730211	0.38057	0.486332833767	0.36930	T	0.27718	0.64979	T	-0.372903	0.03450	T	-0.297394	0.44999	T	0.0186218125012243	0.00576	T	0.737926	0.35508	T	0.12036941	0.28325	0.18262362	0.41201	0.12036941	0.28325	0.18262362	0.41200	-2.995	0.10127	T	.	.	0.142	0.31203	B	.	.	2.070988	0.26338	17.08	0.86946015747244509	0.16882	0.80071	0.39809	D	AEFGBI	0.406686	0.47907	N	-0.282567121738962	0.29822	1.657207	-0.0970046483997416	0.35514	2.055537	0.999992548734019	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.96	3.61	0.40494	5.786000	0.68654	8.107000	0.76578	0.756000	0.94297	1.000000	0.71638	0.982000	0.30508	0.830000	0.39126	0.8006:0.0:0.1994:0.0	8.575	0.32753	824	0.40336	TGF-beta, propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.000000	0.005435	0.011696	0.050000	0.017241	0.009146	0.022727	0.1	3349.14	33	chr6	55874486	.	A	T	3349.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.83;DP=531;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.453;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1140	8	0	2	0
chr6	56170982	56170982	C	A	exonic	COL21A1	.	nonsynonymous SNV	COL21A1:NM_001318752:exon4:c.G787T:p.V263F,COL21A1:NM_030820:exon4:c.G787T:p.V263F,COL21A1:NM_001318751:exon5:c.G787T:p.V263F	.	431	1089	1	1	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00452190046644	.	.	0.0003	0	0.0022	0	0	6.14e-05	0	6.785e-05	0.000194	30	154602	rs766630871	4.547e-05	4.857e-05	5.343e-05	3.741e-05	0.0008	3.667e-05	3.345e-05	0.0006	0.0005	0	0.0008	0.0002	2.528e-05	0	0	1.444e-05	0.0001	5.952e-05	3.289e-05	3.284e-05	3.858e-05	2.694e-05	0.0001	1.262e-05	7.99e-06	2.266e-05	9.09e-06	0	0	0.0001	0.0003	0	0	0	2.946e-05	0	0	0.208	0.29688	T	0.044	0.49663	D	0.976	0.58310	D	0.601	0.54635	P	0.006953	0.31695	U	0.137302	0.901447	0.27692	N	1.965	0.53209	M	4.43	0.02158	T	-0.71	0.21215	N	0.358	0.41656	-0.8070	0.54730	T	0.004	0.01365	T	10	0.040469646	0.02618	T	0.004522	0.11125	T	0.105	0.29889	0.3	0.26683	0.28297238246	0.27903	0.7169783331776748	0.71640	0.0257209191856	0.02628	0.575532734394	0.49457	T	0.018121	0.14664	T	-0.44734	0.01171	T	-0.500855	0.22260	T	0.0521769658961609	0.05877	T	0.838916	0.51225	T	0.12338673	0.28974	0.089986175	0.21077	0.12338673	0.28974	0.089986175	0.21076	-9.636	0.71703	D	.	.	0.144	0.31783	B	.;.;.	.;.;.	3.321227	0.45682	22.2	0.96750403701605658	0.30957	0.49098	0.28356	N	AEFBI	0.318631	0.42227	N	0.0368829675599821	0.43539	2.644942	0.0274800089729897	0.40995	2.455627	0.00240941559322817	0.09398	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.66	3.72	0.41857	0.662000	0.24721	1.267000	0.25267	0.549000	0.26987	0.288000	0.25215	1.000000	0.68203	0.997000	0.79791	0.174:0.6556:0.0:0.1703	4.993	0.13571	711	0.56613	Laminin G domain;.;Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	3011.43	33	chr6	56170982	.	C	A	3011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=551;ExcessHet=0;FS=5.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-2.452;SOR=1.029	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	9	0	1	0
chr6	56517537	56517537	C	A	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon51:c.G10344T:p.E3448D,DST:NM_001374730:exon60:c.G10995T:p.E3665D,DST:NM_183380:exon61:c.G11322T:p.E3774D,DST:NM_001144770:exon62:c.G11442T:p.E3814D,DST:NM_001144769:exon64:c.G11856T:p.E3952D,DST:NM_001374729:exon65:c.G17253T:p.E5751D,DST:NM_001374722:exon70:c.G18213T:p.E6071D,DST:NM_001374734:exon70:c.G18240T:p.E6080D,DST:NM_001374736:exon70:c.G18213T:p.E6071D	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	3	1504	14	1	0	16	0.00529101	.	.	.	954607	Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0046372061351	8.4e-05	0.000199681	0.0001	0	9.225e-05	0.0001	0	0.0001	0.0012	6.374e-05	9.06e-05	14	154602	rs373876039	7.666e-05	7.798e-05	5.856e-05	9.495e-05	0.0014	6.494e-05	6.074e-05	0.0007	0.0005	0	0	0	7.563e-05	0	0.0014	5.758e-05	0.0001	0.0003	7.88e-05	7.874e-05	6.424e-05	9.403e-05	0.0004	4.494e-05	3.51e-05	7.287e-05	3.028e-05	2.406e-05	0	0.0002	0	0	0	0	8.822e-05	0	0.0004	0.155	0.24183	T	.	.	.	0.812	0.45431	P	0.646	0.52296	P	0.000065	0.52346	D	0.000000	.	.	.	.	.	.	1.88	0.23884	T	-2.8	0.60029	D	0.613	0.62950	-1.0154	0.25207	T	0.084	0.32757	T	9	0.22731134	0.39608	T	0.004637	0.11503	T	0.211	0.50185	.	.	0.548160731508	0.54472	0.2501184377819017	0.24925	0.540124399563	0.51215	0.557902634144	0.46971	T	0.075684	0.41151	T	-0.289032	0.09733	T	-0.342433	0.40069	T	0.81636917591095	0.47504	D	0.992401	0.99457	D	.	.	.	.	.	.	.	.	-4.66	0.32917	T	.	.	0.536	0.66190	A	.;.;.;.;.;.	.;.;.;.;.;.	3.947899	0.57820	23.9	0.98428498675255693	0.41364	0.95020	0.63147	D	ALL	0.846840	0.76371	D	0.588699256152972	0.72470	5.810627	0.603798294399183	0.75214	6.271348	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	5.983000	0.70222	7.659000	0.64126	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9266:0.0:0.0733	13.881	0.63185	179	0.93046	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	971.43	34	chr6	56517537	.	C	A	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.577;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=1.78;SOR=0.788	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr6	56553483	56553483	A	T	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon42:c.T7440A:p.F2480L,DST:NM_001374730:exon52:c.T8418A:p.F2806L,DST:NM_183380:exon52:c.T8418A:p.F2806L,DST:NM_001144770:exon53:c.T8538A:p.F2846L,DST:NM_001144769:exon55:c.T8952A:p.F2984L,DST:NM_001374729:exon57:c.T14676A:p.F4892L,DST:NM_001374722:exon61:c.T15309A:p.F5103L,DST:NM_001374734:exon61:c.T15336A:p.F5112L,DST:NM_001374736:exon61:c.T15309A:p.F5103L	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	512910	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.00203335163569	0.0014	0.000599042	0.0006	0.0001	0.0009	0	0	0.0010	0	0	0.0006209	96	154602	rs191081991	0.0012	0.0012	0.0012	0.0011	0.0015	0.0011	0.0011	0.0014	0.0014	0.0001	0.0011	3.83e-05	0	1.874e-05	0.0005	0.0015	0.0009	0	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0011	0	0	0	0	0.0013	0	0	0.358	0.16038	T	.	.	.	0.008	0.14655	B	0.014	0.16862	B	0.000047	0.53742	D	0.000000	.	.	.	.	.	.	1.52	0.30669	T	-4.59	0.80767	D	0.201	0.48134	-0.9930	0.31827	T	0.031	0.13418	T	9	0.010002196	0.00224	T	0.002033	0.03695	T	0.180	0.45073	.	.	0.570695249167	0.56736	0.10505033960334959	0.10435	0.142631429651	0.16090	0.431594908237	0.29426	T	0.061425	0.31651	T	-0.455327	0.01050	T	-0.434086	0.29473	T	0.0805512078708673	0.10058	T	0.779722	0.41422	T	.	.	.	.	.	.	.	.	-7.829	0.61648	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	-0.405952	0.02190	0.217	0.78210279845764985	0.12202	0.18566	0.20313	N	AEFBI	0.198238	0.32511	N	-1.3265883620445	0.03374	0.1506065	-1.43524958161774	0.02906	0.1345811	0.999999155165858	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.61	-7.43	0.01238	-0.719000	0.05078	-0.570000	0.08431	-0.751000	0.03586	0.011000	0.18532	0.000000	0.08366	0.954000	0.50415	0.2964:0.103:0.6006:0.0	13.786	0.62599	208	0.91895	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1836.43	48	chr6	56553483	.	A	T	1836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=530;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.578;SOR=0.822	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr6	56592246	56592246	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon30:c.A4970G:p.K1657R,DST:NM_001374730:exon40:c.A5948G:p.K1983R,DST:NM_183380:exon40:c.A5948G:p.K1983R,DST:NM_001144770:exon41:c.A6068G:p.K2023R,DST:NM_001144769:exon43:c.A6482G:p.K2161R,DST:NM_001374729:exon45:c.A12206G:p.K4069R,DST:NM_001374722:exon49:c.A12839G:p.K4280R,DST:NM_001374734:exon49:c.A12866G:p.K4289R,DST:NM_001374736:exon49:c.A12839G:p.K4280R	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	787366	not_provided|DST-related_disorder|Inborn_genetic_diseases|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|Hereditary_sensory_and_autonomic_neuropathy_type_6	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.00326567700318	0.0038	0.00239617	0.0033	0.0011	0.0010	0.0003	0.0048	0.0043	0.0063	0.0028	0.0029495	456	154602	rs186813964	0.0038	0.0038	0.0039	0.0037	0.0044	0.0037	0.0037	0.0043	0.0042	0.0006	0.0012	0.0007	7.568e-05	0.0045	0.0016	0.0044	0.0029	0.0024	0.0028	0.0028	0.0029	0.0028	0.0046	0.0026	0.0025	0.0040	0.0038	0.0011	0	0.0010	0.0006	0.0002	0.0043	0	0.0044	0.0024	0.0046	0.144	0.43393	T	.	.	.	0.004	0.12183	B	0.012	0.16012	B	0.010236	0.30012	N	0.226724	.	.	.	.	.	.	1.35	0.34648	T	-2.23	0.50012	N	0.172	0.21580	-1.0708	0.09238	T	0.042	0.18076	T	9	0.005561888	0.00123	T	0.003266	0.07207	T	0.025	0.05312	.	.	0.291402777868	0.28757	0.2731268755976801	0.27225	0.0975165906878	0.11011	0.39683637023	0.24628	T	0.033204	0.22814	T	-0.49675	0.00596	T	-0.483294	0.24097	T	0.0176732326785334	0.00499	T	0.822018	0.50011	T	.	.	.	.	.	.	.	.	-5.498	0.43210	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	1.602758	0.20489	14.77	0.95116286782943249	0.26208	0.88405	0.48318	D	AEFBI	0.193932	0.32103	N	-0.368328530148326	0.26605	1.453204	-0.208193138218174	0.31240	1.766179	0.999397119206064	0.39470	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	3.23	0.36150	1.129000	0.30994	0.659000	0.20486	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.883000	0.42306	0.0:0.1428:0.0:0.8572	10.214	0.42335	245	0.90404	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1060.43	38	chr6	56592246	.	T	C	1060.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.532;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=1.05;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1107	9	0	1	0
chr6	56603962	56603962	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.A10033G:p.T3345A,DST:NM_001374722:exon40:c.A10666G:p.T3556A,DST:NM_001374734:exon40:c.A10693G:p.T3565A,DST:NM_001374736:exon40:c.A10666G:p.T3556A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00435289401862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.84e-07	0	1.378e-06	9.006e-07	0	0	.	.	0	0	0	0	0	0	9.006e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.61437	D	0.581	0.08476	T	0.023	0.18885	B	0.013	0.16460	B	0.702921	0.06213	N	1.192680	.	.	.	.	.	.	0.01	0.67367	T	-0.2	0.22508	N	0.032	0.00825	-1.0533	0.13493	T	0.070	0.28511	T	8	0.065330386	0.08799	T	0.004353	0.10592	T	0.024	0.04979	.	.	0.223474106383	0.21959	.	.	.	.	.	.	.	0.01093	0.09812	T	-0.232474	0.16323	T	-0.571709	0.15292	T	0.0432371097392313	0.04280	T	0.418758	0.12052	T	.	.	.	.	.	.	.	.	-3.69	0.19171	T	.	.	.	.	.	.;.	.;.	-1.152747	0.00581	0.014	0.46600419594078096	0.03745	0.06960	0.12986	N	AEFGBCI	0.037845	0.05266	N	-1.60050480445726	0.01262	0.05490933	-1.68035302591	0.01227	0.05526165	0.99916637981521	0.38622	0.706548	0.73137	0	0.546412	0.12157	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.75	-6.17	0.01912	-0.873000	0.04322	-3.721000	0.02581	-1.660000	0.00814	0.000000	0.06391	0.000000	0.08366	0.303000	0.24570	0.0949:0.3616:0.3125:0.231	3.623	0.07645	251	0.90153	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1464.43	79	chr6	56603962	.	T	C	1464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.939;DP=527;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.448;SOR=0.455	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1231	9	0	1	0
chr6	56640283	56640283	G	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001723:exon4:c.C739G:p.P247A,DST:NM_015548:exon4:c.C739G:p.P247A,DST:NM_001374729:exon14:c.C1717G:p.P573A,DST:NM_001374730:exon14:c.C1717G:p.P573A,DST:NM_183380:exon14:c.C1717G:p.P573A,DST:NM_001144770:exon15:c.C1837G:p.P613A,DST:NM_001144769:exon17:c.C2251G:p.P751A,DST:NM_001374722:exon18:c.C2350G:p.P784A,DST:NM_001374734:exon18:c.C2377G:p.P793A,DST:NM_001374736:exon18:c.C2350G:p.P784A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	2	1475	43	2	0	47	0.0156823	.	.	.	308408	DST-related_disorder|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	.	0.0018	0.00299521	0.0033	0.0004	0.0012	0	0.0002	0.0030	0.0022	0.0107	0.0031177	482	154602	rs151271595	0.0028	0.0028	0.0025	0.0030	0.0102	0.0027	0.0027	0.0096	0.0094	0.0006	0.0014	0.0029	2.519e-05	0.0004	0.0095	0.0024	0.0033	0.0102	0.0018	0.0018	0.0017	0.0019	0.0097	0.0016	0.0016	0.0075	0.0067	0.0006	0	0.0023	0.0037	0.0002	0	0.0034	0.0022	0.0038	0.0097	0.052	0.52492	T	0.429	0.17217	T	0.023	0.25584	B	0.029	0.28327	B	0.073886	0.21317	N	0.395716	.	.	.	1.24	0.30952	L	1.06	0.82715	T	-1.84	0.59545	N	0.124	0.18512	-1.0564	0.12672	T	0.133	0.44661	T	9	0.0032327473	0.00055	T	.	.	.	0.033	0.08068	.	.	0.366092821824	0.36220	0.3893332817011348	0.38848	0.139746512027	0.15750	0.298681229353	0.10204	T	0.010347	0.16227	T	-0.41251	0.01913	T	-0.357357	0.38358	T	0.00171214513294426	0.00017	T	0.842416	0.51891	T	.	.	.	.	.	.	.	.	-4.492	0.30784	T	.	.	0.061	0.01143	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.025952	0.14055	10.63	0.74773530716296321	0.10821	0.50708	0.28725	D	AEFDGBHCI	0.156510	0.28188	N	-0.715540201429122	0.15585	0.7867031	-0.601513759295084	0.19453	1.043817	0.999999734906887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.95	1.56	0.22423	0.441000	0.21325	1.420000	0.26356	0.676000	0.76740	0.773000	0.29391	0.931000	0.28545	0.995000	0.73285	0.0:0.3053:0.1732:0.5215	7.512	0.26746	314	0.87270	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.015152	0.1	3423.14	34	chr6	56640283	.	G	C	3423.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.752;DP=572;ExcessHet=0.2348;FS=1.971;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=2.04;SOR=0.819	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1036	8	0	2	0
chr6	57054057	57054057	A	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.A1477G:p.I493V,KIAA1586:NM_001286275:exon4:c.A1357G:p.I453V,KIAA1586:NM_001286276:exon4:c.A1357G:p.I453V,KIAA1586:NM_020931:exon4:c.A1558G:p.I520V	.	434	1086	2	0	0	2	0.000919963	.	.	.	2359511	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.00167628844764	0.0002	.	0.0001	0.0001	0	0	0	0.0002	0	0.0001	0.0001294	20	154602	rs147271286	6.925e-05	6.978e-05	6.959e-05	6.891e-05	0.0043	5.793e-05	5.404e-05	0.0030	0.0026	0.0005	4.511e-05	0	0	0	0.0043	3.604e-05	0.0002	6.992e-05	3.287e-05	3.283e-05	5.14e-05	1.346e-05	5.885e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.885e-05	0.0005	0	0.205	0.20230	T	0.35	0.23638	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999988	0.18198	N	0.695	0.17993	N	2.02	0.21119	T	-0.28	0.11547	N	0.227	0.25499	-0.9079	0.47109	T	0.007	0.02598	T	9	0.054757535	0.05881	T	0.001676	0.02753	T	0.019	0.03383	.	.	0.0551355673512	0.04727	0.02415413279898782	0.02366	0.030042904158	0.03099	0.56442296505	0.47891	T	0.012204	0.10769	T	-0.447951	0.01161	T	-0.689544	0.06415	T	0.0354195467243455	0.02880	T	0.555444	0.19245	T	0.050615285	0.09171	0.0693522	0.14601	0.050615285	0.09171	0.0693522	0.14601	-4.039	0.24385	T	.	.	0.069	0.03811	B	.;.	.;.	1.368456	0.17782	13.37	0.79567598744896406	0.12800	0.73597	0.35999	D	AEFBCI	0.070436	0.13982	N	-0.760185516113316	0.14358	0.7145654	-0.60024960902381	0.19486	1.045725	0.101579239144028	0.16383	0.562547	0.31514	0	0.546412	0.12157	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	3.85	1.41	0.21461	2.957000	0.48830	0.761000	0.21315	0.665000	0.62972	0.766000	0.29311	0.000000	0.08366	0.998000	0.85391	0.7673:0.0:0.2327:0.0	5.627	0.16769	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	626.43	34	chr6	57054057	.	A	G	626.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=417;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.08;ReadPosRankSum=1.78;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	9	0	1	0
chr6	57054547	57054547	A	G	exonic	KIAA1586	.	nonsynonymous SNV	KIAA1586:NM_001286274:exon3:c.A1967G:p.N656S,KIAA1586:NM_001286275:exon4:c.A1847G:p.N616S,KIAA1586:NM_001286276:exon4:c.A1847G:p.N616S,KIAA1586:NM_020931:exon4:c.A2048G:p.N683S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00170885153747	0.0006	0.000798722	0.0004	0.0029	0	0	0	0.0002	0	0	0.0002717	42	154602	rs144338352	0.0002	0.0002	0.0002	0.0001	0.0028	0.0001	0.0001	0.0023	0.0022	0.0028	9.306e-05	0	0	7.55e-05	0	0.0001	0.0002	0	0.0007	0.0007	0.0007	0.0008	0.0024	0.0006	0.0006	0.0020	0.0019	0.0024	0	0.0001	0	0	0	0	0.0001	0.0009	0	0.189	0.23007	T	0.176	0.32783	T	0.15	0.27995	B	0.031	0.21939	B	.	.	.	.	0.999989	0.18198	N	0.805	0.20218	L	2.02	0.21119	T	-0.42	0.14193	N	0.238	0.26837	-0.9145	0.46285	T	0.006	0.02018	T	9	0.006220311	0.00140	T	0.001709	0.02856	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.029057282077579783	0.02854	0.0404704253703	0.04334	0.548369586468	0.45627	T	0.004807	0.04227	T	-0.651781	0.00071	T	-0.714563	0.05063	T	0.00775678893599986	0.00091	T	0.69513	0.30474	T	0.06255659	0.13080	0.04572523	0.06214	0.06255659	0.13080	0.04572523	0.06214	-4.71	0.33525	T	.	.	0.077	0.06525	B	.;.	.;.	1.189414	0.15807	12.12	0.90009445945413624	0.19299	0.27258	0.23226	N	AEFBCI	0.033064	0.03853	N	-0.87640289520408	0.11406	0.5502418	-0.805394098586892	0.14366	0.7502022	0.0771589742775995	0.15750	0.651	0.46895	0	0.708844	0.79440	0	0.54472	0.12158	0	0.635551	0.53088	0	.	.	3.35	0.877	0.18280	0.293000	0.18785	-0.438000	0.09178	0.756000	0.94297	0.640000	0.28085	0.000000	0.08366	0.990000	0.65344	0.7316:0.0:0.2684:0.0	5.025	0.13723	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1167.43	34	chr6	57054547	.	A	G	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.086;DP=420;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.263;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	9	0	1	0
chr6	57148345	57148345	C	T	exonic	ZNF451	.	nonsynonymous SNV	ZNF451:NM_001031623:exon10:c.C2260T:p.R754C,ZNF451:NM_015555:exon10:c.C2260T:p.R754C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.01856823979	.	0.000599042	7.494e-05	0	0	0	0	0	0.0011	0.0005	8.41e-05	13	154602	rs575508843	4.652e-05	4.652e-05	2.995e-05	6.326e-05	0.0005	3.728e-05	3.412e-05	0.0004	0.0003	2.987e-05	0	0	2.52e-05	1.873e-05	0.0003	1.259e-05	9.937e-05	0.0005	5.911e-05	5.906e-05	2.57e-05	9.404e-05	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.002	0.72154	D	0.009	0.66756	D	1.0	0.90584	D	0.973	0.72923	D	0.003578	0.34767	N	0.316196	0.999993	0.58761	D	2.645	0.77386	M	2.08	0.20255	T	-2.93	0.64478	D	0.292	0.38541	-1.0857	0.06281	T	0.085	0.33269	T	10	0.13102415	0.24935	T	0.018568	0.40677	T	0.189	0.46613	.	.	0.502068736871	0.49845	0.430367893461108	0.42953	0.314614938992	0.33745	0.394929230213	0.24362	T	0.258093	0.62921	T	-0.222674	0.17629	T	-0.200148	0.54632	T	0.31828315087504	0.25752	T	0.952405	0.86103	D	0.2103099	0.43324	0.14086111	0.33563	0.2103099	0.43323	0.14086111	0.33562	-4.255	0.30082	T	.	.	0.084	0.34205	B	.;.;.	.;.;.	4.071720	0.60497	24.2	0.99930076362555398	0.99334	0.87554	0.47131	D	AEFDGBCIJ	0.583881	0.58293	D	0.509397026772344	0.67644	5.109184	0.452783713537131	0.64897	4.755687	0.999999862098202	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	1.653000	0.36940	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1556:0.8444:0.0:0.0	13.580	0.61363	717	0.55835	Zinc finger C2H2-type;.;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	997.43	85	chr6	57148345	.	C	T	997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.66;DP=420;ExcessHet=0;FS=1.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.925;SOR=0.821	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,108,1620	9	0	1	0
chr6	57196502	57196502	T	C	exonic	RAB23	.	nonsynonymous SNV	RAB23:NM_001278666:exon4:c.A346G:p.T116A,RAB23:NM_001278667:exon4:c.A346G:p.T116A,RAB23:NM_001278668:exon4:c.A346G:p.T116A,RAB23:NM_016277:exon4:c.A346G:p.T116A,RAB23:NM_183227:exon4:c.A346G:p.T116A	Carpenter syndrome, Autosomal recessive	3	1512	6	1	0	8	0.00263852	.	.	.	1037726	not_provided|RAB23-related_Carpenter_syndrome|Inborn_genetic_diseases|RAB23-related_disorder|Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0008710,MedGen:C4551510,OMIM:201000,Orphanet:65759|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0019012,MedGen:C1275078,OMIM:PS201000,Orphanet:65759	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.385	0.0365407522231	7.7e-05	.	0.0002	0	8.645e-05	0.0001	0	0.0003	0	0.0005	0.0002199	34	154602	rs138803099	0.0001	0.0001	0.0001	0.0002	0.0029	0.0001	0.0001	0.0019	0.0015	0	4.472e-05	0.0003	0.0001	0	0.0029	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	8.059e-05	0.0002	8.163e-05	6.72e-05	0.0001	7.896e-05	2.407e-05	0	6.537e-05	0.0003	0.0002	0	0.0034	0.0002	0.0005	0.0002	0.079	0.33753	T	0.439	0.13365	T	0.083	0.24734	B	0.204	0.37039	B	0.000083	0.51296	D	0.231325	0.999737	0.48635	D	0.135	0.08676	N	-1.29	0.79475	T	-1.4	0.34596	N	0.718	0.72031	-0.7576	0.57535	T	0.183	0.53087	T	10	0.42020148	0.56812	T	0.036541	0.57053	D	0.385	0.70194	.	.	0.837510036393	0.83596	0.6098316014559069	0.60915	0.253422639517	0.27911	0.516050875187	0.41070	T	0.258475	0.62963	T	-0.156006	0.27375	T	-0.165676	0.57838	T	0.0443953140770478	0.04492	T	0.766923	0.39491	T	0.062869504	0.13178	0.10184803	0.24393	0.062869504	0.13177	0.10184803	0.24392	-5.172	0.38656	T	0.184526429101712	0.23937	0.103	0.19518	B	.;.	.;.	2.638359	0.34328	19.60	0.98909995340292833	0.48345	0.97097	0.72672	D	AEFGBI	0.518364	0.54409	D	-0.187925101071928	0.33637	1.910559	-0.0216332139859695	0.38739	2.286744	0.999946303593458	0.47345	0.732398	0.92422	0	0.601575	0.49859	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.96	3.43	0.38372	4.744000	0.61813	2.805000	0.34874	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.972000	0.54974	0.2685:0.0:0.0:0.7315	10.029	0.41262	719	0.55657	Small GTP-binding protein domain;Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	1020.43	34	chr6	57196502	.	T	C	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.704;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.632;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1116	9	0	1	0
chr6	61894756	61894756	C	A	exonic	KHDRBS2	.	nonsynonymous SNV	KHDRBS2:NM_001350622:exon6:c.G689T:p.R230L,KHDRBS2:NM_152688:exon6:c.G689T:p.R230L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0292873312488	.	.	5.834e-05	0	0.0002	0	0	0	0	0.0003	4.53e-05	7	154602	rs374827571	1.984e-05	1.984e-05	1.089e-05	2.889e-05	0.0003	1.392e-05	1.204e-05	0.0002	0.0002	0	0	0	0	0	0	1.799e-06	1.656e-05	0.0003	3.286e-05	3.282e-05	2.572e-05	4.032e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0.0005	0.0008	0.005	0.63226	D	0.021	0.58089	D	0.995	0.67487	D	0.796	0.58006	P	0.000000	0.84330	D	0.056069	0.999501	0.47320	D	2.43	0.70455	M	0.76	0.49919	T	-4.18	0.75537	D	0.778	0.77507	-0.6900	0.60908	T	0.214	0.57507	T	10	0.74050677	0.74924	D	0.029287	0.51824	D	0.329	0.65126	0.364	0.37036	0.615400501031	0.61229	0.4294262301245069	0.42859	0.162984450629	0.18394	0.691052675247	0.65858	T	0.302569	0.67496	T	-0.136353	0.30471	T	-0.141489	0.59988	T	0.802042007446289	0.46492	D	0.849315	0.53201	T	0.45025307	0.64057	0.38105926	0.63124	0.45025307	0.64057	0.38105926	0.63123	-10.846	0.78806	D	.	.	0.392	0.59114	A	.	.	5.308302	0.89112	29.9	0.99847499769091685	0.92750	0.95222	0.63891	D	AEFI	0.801228	0.72699	D	0.758353053133707	0.83450	8.020195	0.75802479775237	0.86754	8.992099	0.0213367357338401	0.13340	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.52	5.52	0.82153	6.220000	0.72182	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.789	0.96446	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	658.43	35	chr6	61894756	.	C	A	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.097;DP=371;ExcessHet=0;FS=2.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.119;SOR=0.412	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1294	9	0	1	0
chr6	63280811	63280811	A	C	exonic	LGSN	.	nonsynonymous SNV	LGSN:NM_016571:exon4:c.T740G:p.L247W	.	.	.	.	.	.	.	.	.	.	.	3696229	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.828	0.354895505036	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1166386174	2.531e-05	2.531e-05	2.859e-05	2.2e-05	0.0002	1.868e-05	1.631e-05	2.082e-05	1.782e-05	0	0	0	0	0	0.0002	2.878e-05	6.623e-05	0	1.971e-05	1.97e-05	0	4.034e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.085006	0.982063	0.81001	D	2.495	0.72670	M	-2.57	0.89692	D	-4.96	0.81985	D	0.584	0.60495	0.660	0.92675	D	0.747	0.91351	D	10	0.9582763	0.95208	D	0.354896	0.92364	D	0.828	0.94541	0.834	0.94231	0.801162331882	0.79930	0.9294647614789353	0.92924	0.099632476117	0.11245	0.560247421265	0.47303	T	0.43168	0.77971	T	0.153215	0.69569	D	0.112757	0.77756	D	0.937758386135101	0.60780	D	0.866613	0.56692	D	0.88310665	0.89925	0.9245633	0.96718	0.88310665	0.89926	0.9245633	0.96718	-14.864	0.95526	D	.	.	0.622	0.69771	P	.	.	4.740796	0.76452	26.5	0.95952517890577183	0.28275	0.99018	0.90030	D	AEFI	.	.	.	0.63307569146772	0.75277	6.277706	0.561092985566484	0.72171	5.768153	0.999903363067565	0.45458	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.17	5.17	0.70848	8.867000	0.91934	9.191000	0.79130	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	1.0:0.0:0.0:0.0	14.473	0.67104	788	0.46569	Glutamine synthetase, catalytic domain|Glutamine synthetase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	846.43	44	chr6	63280811	.	A	C	846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.09;DP=430;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=0.195;SOR=0.595	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	9	0	1	0
chr6	63713515	63713515	A	G	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon15:c.A5663G:p.H1888R,PHF3:NM_001370350:exon15:c.A3734G:p.H1245R,PHF3:NM_015153:exon15:c.A5927G:p.H1976R,PHF3:NM_001370348:exon16:c.A5927G:p.H1976R,PHF3:NM_001290259:exon17:c.A5663G:p.H1888R	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0102332364594	0.0010	.	0.0004	9.798e-05	0.0002	0	0	0.0006	0	0	0.0004398	68	154602	rs113309637	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0006	0.0008	0.0008	8.969e-05	0.0004	7.658e-05	0	5.617e-05	0.0002	0.0008	0.0006	1.159e-05	0.0006	0.0006	0.0006	0.0005	0.0011	0.0005	0.0005	0.0009	0.0008	7.239e-05	0.0044	0.0003	0	0	9.42e-05	0	0.0011	0.0005	0	0.001	0.78490	D	0.181	0.29346	T	0.158	0.28271	B	0.05	0.25278	B	0.001940	0.37643	N	0.000000	0.577294	0.32345	D	1.1	0.28011	L	2.12	0.19726	T	-2.27	0.50666	N	0.394	0.44761	-1.0053	0.28368	T	0.015	0.05946	T	9	0.03209901	0.01355	T	0.010233	0.26522	T	0.106	0.30130	.	.	0.2419029386	0.23804	0.00904847853066808	0.00867	0.419640191628	0.42511	0.47653990984	0.35581	T	0.205798	0.56495	T	-0.400646	0.02293	T	-0.347324	0.39512	T	0.0718698093502121	0.08911	T	0.773323	0.40460	T	0.1500656	0.34182	0.22925201	0.47991	0.1500656	0.34181	0.22925201	0.47990	-2.34	0.04779	T	.	.	0.219	0.44898	B	.;.	.;.	3.152399	0.42675	21.6	0.9707238976938074	0.32243	0.86853	0.46226	D	AEFGBI	0.514623	0.54192	D	-0.183819241149478	0.33809	1.922315	-0.0401954159303901	0.37918	2.226688	0.999178504878302	0.38651	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	5.071000	0.64211	9.208000	0.79221	0.756000	0.94297	0.956000	0.33378	1.000000	0.68203	0.998000	0.85391	0.922:0.0:0.078:0.0	9.752	0.39648	787	0.46738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	959.43	34	chr6	63713515	.	A	G	959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.671;DP=396;ExcessHet=0;FS=1.769;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.162;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1191	9	0	1	0
chr6	64945865	64945865	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon15:c.A2309C:p.Q770P,EYS:NM_001292009:exon15:c.A2309C:p.Q770P	Retinitis pigmentosa 25	2	1498	21	1	0	23	0.00761842	.	.	YES	99508	not_provided|Retinitis_pigmentosa_25|EYS-related_disorder|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.156062011435	.	0.00159744	0.0030	0	0.0073	0	0	0.0005	0	0.0067	0.0004916	76	154602	rs398123574	0.0006	0.0005	0.0004	0.0008	0.0062	0.0005	0.0005	0.0057	0.0055	0.0002	0.0003	0.0003	2.809e-05	2.031e-05	0.0037	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	2.407e-05	0	0	0	0	0	0	0.0004	0.0009	0.0079	0.348	0.12386	T	0.081	0.43159	T	0.994	0.66517	D	0.737	0.55577	P	.	.	.	.	0.998745	0.21941	N	1.5	0.37844	L	-2.05	0.86216	D	-1.51	0.36787	N	0.376	0.41754	-0.1664	0.78515	T	0.499	0.81048	T	9	0.007982731	0.00181	T	0.156062	0.83689	D	0.344	0.66582	.	.	0.535439087667	0.53195	0.972809422957025	0.97269	0.0159416971316	0.01523	0.257191330194	0.04562	T	0.026495	0.19595	T	-0.297945	0.08855	T	-0.198419	0.54796	T	0.0266984907649297	0.01503	T	0.441756	0.12241	T	0.222128	0.44805	0.23040426	0.48142	0.2326741	0.46059	0.2054426	0.44713	-8.491	0.64370	D	0.6818919307570994	0.75840	0.353	0.56793	A	.;.	.;.	2.881389	0.38135	20.7	0.93232170797979319	0.22914	0.89096	0.49359	D	AEFI	0.414808	0.48392	N	0.0678100956216895	0.44965	2.761136	-0.0335103225406271	0.38212	2.248075	2.38709261326093E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	3.12	0.34986	1.514000	0.35441	1.516000	0.27058	0.574000	0.29054	0.999000	0.42656	0.008000	0.19753	0.934000	0.47231	0.0:0.1035:0.0:0.8965	7.723	0.27908	789	0.46346	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003106	0.000000	0.000000	0.009615	0.000000	0.000000	0.000000	0.000000	0.05	801.43	34	chr6	64945865	.	T	G	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.922;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.146;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr6	65495077	65495077	C	T	exonic	EYS	.	nonsynonymous SNV	EYS:NM_198283:exon3:c.G334A:p.V112I,EYS:NM_001142800:exon4:c.G334A:p.V112I,EYS:NM_001142801:exon4:c.G334A:p.V112I,EYS:NM_001292009:exon4:c.G334A:p.V112I	Retinitis pigmentosa 25	0	1422	93	7	0	107	0.0362589	.	.	.	140963	Retinitis_pigmentosa_25|not_provided|Retinitis_pigmentosa|not_specified	MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.191	.	0.0041	0.00858626	0.0086	0.0012	0.0048	0.0005	0.0002	0.0065	0.0110	0.0323	0.0077425	1197	154602	rs112609906	0.0053	0.0053	0.0043	0.0063	0.0337	0.0052	0.0052	0.0327	0.0323	0.0009	0.0055	0.0626	0.0002	5.617e-05	0.0284	0.0020	0.0098	0.0337	0.0058	0.0058	0.0048	0.0068	0.0385	0.0055	0.0053	0.0340	0.0322	0.0007	0	0.0153	0.0637	0.0006	9.427e-05	0.0102	0.0027	0.0095	0.0385	1.0	0.00964	T	0.537	0.09863	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999995	0.08975	N	-0.975	0.01213	N	-1.54	0.89496	D	-0.16	0.09460	N	0.055	0.02658	-0.9262	0.44688	T	0.165	0.50258	T	9	0.0017894804	0.00023	T	.	.	.	0.191	0.46948	.	.	0.235664433957	0.23186	0.0246454282245008	0.02415	0.00995304507162	0.00909	0.290867894888	0.09049	T	0.037376	0.24453	T	-0.524892	0.00412	T	-0.503062	0.22032	T	0.00452867321037456	0.00048	T	0.430857	0.11714	T	0.019045109	0.00429	0.029319579	0.01257	0.018142622	0.00335	0.022801036	0.00298	-2.302	0.04835	T	0.02652903951531157	0.00038	0.055	0.00681	B	.;.;.;.	.;.;.;.	0.719570	0.10887	7.559	0.48228472243111892	0.04007	0.18982	0.20480	N	AEFCI	0.057285	0.10659	N	-0.778460120555386	0.13872	0.6866326	-0.610487569943459	0.19223	1.030442	1.30256985872255E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	0.626	0.16843	1.444000	0.34679	1.206000	0.24872	-0.172000	0.11096	1.000000	0.71638	0.929000	0.28499	0.587000	0.31065	0.1537:0.0872:0.16:0.5991	2.280	0.03859	916	0.20744	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023666	0.015152	0.025815	0.020468	0.050000	0.008621	0.018293	0.045455	0.1	4349.14	33	chr6	65495077	.	C	T	4349.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.17;DP=577;ExcessHet=0.2348;FS=1.972;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.758;SOR=0.817	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	8	0	2	0
chr6	70234894	70234894	C	G	exonic	COL9A1	.	nonsynonymous SNV	COL9A1:NM_078485:exon28:c.G1430C:p.R477P,COL9A1:NM_001377289:exon29:c.G1460C:p.R487P,COL9A1:NM_001851:exon34:c.G2159C:p.R720P	Stickler syndrome, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.143473125126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.346	0.17696	T	0.999	0.77913	D	0.987	0.77487	D	0.000002	0.62929	D	0.060728	1	0.81001	D	-0.53	0.02533	N	-1.76	0.83578	D	-2.88	0.60507	D	0.659	0.67995	-0.2824	0.75475	T	0.345	0.71012	T	10	0.78262323	0.77981	D	0.143473	0.82579	D	0.561	0.82003	0.467	0.53891	0.912420511958	0.91153	0.6657395501328037	0.66510	0.491154891297	0.47813	0.670825362206	0.62956	T	0.504345	0.82347	D	0.157477	0.69966	D	-0.0115717	0.69583	D	0.981120765209198	0.73735	D	0.838016	0.51077	T	0.59302646	0.72315	0.6458173	0.79292	0.59302646	0.72316	0.6458173	0.79293	-3.567	0.17381	T	.	.	0.294	0.52500	B	.;.	.;.	4.196750	0.63292	24.6	0.99109464510274503	0.52674	0.99022	0.90087	D	AEFBI	0.975820	0.99640	D	0.205129814946803	0.51446	3.325891	0.288855276159954	0.54887	3.652603	0.996807278208412	0.35023	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	4.87	0.62877	7.822000	0.84804	4.001000	0.41074	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9303:0.0:0.0697	14.648	0.68381	781	0.47532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	160.43	45	chr6	70234894	.	C	G	160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.757;DP=396;ExcessHet=0;FS=48.411;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=-0.269;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,996:.	9	0	1	0
chr6	70526542	70526542	T	G	exonic	FAM135A	.	nonsynonymous SNV	FAM135A:NM_001331000:exon13:c.T2771G:p.L924W,FAM135A:NM_001331005:exon13:c.T3359G:p.L1120W,FAM135A:NM_001330997:exon14:c.T2870G:p.L957W,FAM135A:NM_001331001:exon14:c.T2870G:p.L957W,FAM135A:NM_001331004:exon14:c.T2183G:p.L728W,FAM135A:NM_001351600:exon14:c.T3458G:p.L1153W,FAM135A:NM_020819:exon14:c.T2819G:p.L940W,FAM135A:NM_001105531:exon15:c.T2870G:p.L957W,FAM135A:NM_001162529:exon15:c.T3458G:p.L1153W,FAM135A:NM_001330996:exon15:c.T3536G:p.L1179W,FAM135A:NM_001331002:exon15:c.T2870G:p.L957W,FAM135A:NM_001351599:exon15:c.T3536G:p.L1179W,FAM135A:NM_001351602:exon15:c.T3458G:p.L1153W,FAM135A:NM_001351608:exon15:c.T2612G:p.L871W,FAM135A:NM_001330995:exon16:c.T2198G:p.L733W,FAM135A:NM_001330998:exon16:c.T2948G:p.L983W,FAM135A:NM_001330999:exon16:c.T3536G:p.L1179W,FAM135A:NM_001331003:exon16:c.T2948G:p.L983W,FAM135A:NM_001351607:exon16:c.T3458G:p.L1153W,FAM135A:NM_001331006:exon17:c.T2276G:p.L759W,FAM135A:NM_001351609:exon17:c.T2018G:p.L673W	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0241748974734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.983	0.92359	D	0.000342	0.45440	D	0.091944	0.92348	0.36748	D	2.295	0.65404	M	1.71	0.33412	T	-4.22	0.77391	D	0.797	0.87481	-0.9024	0.47739	T	0.128	0.43544	T	10	0.78712714	0.78343	D	0.024175	0.47165	T	0.356	0.67691	0.593	0.72247	0.492305710705	0.48864	0.6255941202970919	0.62492	0.989609882362	0.74023	0.592254757881	0.51813	T	0.222709	0.58664	T	0.235791	0.77266	D	0.100921	0.76970	D	0.983949601650238	0.75426	D	0.938306	0.76795	D	0.6196042	0.73742	0.767549	0.86272	0.6196042	0.73743	0.767549	0.86273	-7.167	0.56494	T	.	.	0.636	0.70373	P	.;.;.;.;.;.	.;.;.;.;.;.	4.510761	0.70634	25.6	0.96532712939197884	0.30158	0.98710	0.85869	D	AEFBI	0.702627	0.65893	D	0.673603592229058	0.77903	6.765224	0.669889850230647	0.80098	7.224212	0.867453677020703	0.25347	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.96	5.96	0.96695	4.360000	0.59229	7.956000	0.75945	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	14.999	0.71112	836	0.38045	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5815.12	41	chr6	70526542	.	T	G	5815.12	.	AC=2;AF=0.1;AN=20;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.13;SOR=0.859	GT:AD:DP:GQ:PL	1/1:0,193:193:99:5838,579,0	9	1	0	0
chr6	70668040	70668040	G	A	exonic	SMAP1	.	nonsynonymous SNV	SMAP1:NM_001044305:exon1:c.G17A:p.C6Y,SMAP1:NM_001281439:exon1:c.G17A:p.C6Y,SMAP1:NM_021940:exon1:c.G17A:p.C6Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.172439895136	.	.	3.904e-05	0	0	0	0	7.176e-05	0	0	1.94e-05	3	154602	rs753923496	3.174e-05	3.147e-05	3.433e-05	2.913e-05	3.975e-05	2.433e-05	2.176e-05	3.013e-05	2.683e-05	0	0	0	0	0	0	3.975e-05	3.343e-05	0	6.574e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.029	0.45756	D	0.051	0.55341	T	0.969	0.56768	D	0.558	0.49494	P	0.045629	0.23517	N	0.448085	0.88373	0.35804	D	0	0.06538	N	2.28	0.21865	T	-1.01	0.26639	N	0.305	0.34444	-1.0623	0.11190	T	0.045	0.19316	T	10	0.22296	0.39062	T	0.17244	0.84942	D	0.105	0.29889	0.28	0.23483	0.117191471859	0.11215	0.7454368369057555	0.74489	2.59650284428	0.98161	0.846943676472	0.89153	D	0.023929	0.18176	T	-0.271575	0.11583	T	-0.462019	0.26380	T	0.359811126570356	0.27402	T	0.945605	0.79272	D	0.3051532	0.53363	0.5257476	0.72600	0.3051532	0.53363	0.5257476	0.72600	-10.216	0.77613	D	.	.	0.567	0.74342	P	.;.;.	.;.;.	4.746463	0.76591	26.5	0.72162146122267756	0.09877	0.66456	0.33084	D	ALL	0.499638	0.53323	N	0.137075666989766	0.48200	3.03537	0.20308260555608	0.50019	3.19832	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.28	5.28	0.74118	4.573000	0.60606	11.244000	0.90520	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.120000	0.19168	0.081:0.0:0.919:0.0	11.955	0.52266	644	0.63734	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	680.43	33	chr6	70668040	.	G	A	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.975;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=-0.234;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1247	9	0	1	0
chr6	72400659	72400659	G	A	exonic	RIMS1	.	nonsynonymous SNV	RIMS1:NM_001168411:exon6:c.G605A:p.R202Q,RIMS1:NM_001350419:exon19:c.G2243A:p.R748Q,RIMS1:NM_001350455:exon19:c.G2246A:p.R749Q,RIMS1:NM_001350426:exon20:c.G2318A:p.R773Q,RIMS1:NM_001350432:exon20:c.G2306A:p.R769Q,RIMS1:NM_001350440:exon20:c.G2315A:p.R772Q,RIMS1:NM_001168408:exon21:c.G2399A:p.R800Q,RIMS1:NM_001350427:exon21:c.G2396A:p.R799Q,RIMS1:NM_001350449:exon21:c.G2378A:p.R793Q,RIMS1:NM_001350465:exon21:c.G2156A:p.R719Q,RIMS1:NM_001350472:exon21:c.G2351A:p.R784Q,RIMS1:NM_001350473:exon21:c.G2354A:p.R785Q,RIMS1:NM_001168409:exon22:c.G2228A:p.R743Q,RIMS1:NM_001168410:exon22:c.G2426A:p.R809Q,RIMS1:NM_001350417:exon22:c.G2471A:p.R824Q,RIMS1:NM_001350422:exon22:c.G2468A:p.R823Q,RIMS1:NM_001350423:exon22:c.G2732A:p.R911Q,RIMS1:NM_001350424:exon22:c.G2330A:p.R777Q,RIMS1:NM_001350429:exon22:c.G2762A:p.R921Q,RIMS1:NM_001350444:exon22:c.G2759A:p.R920Q,RIMS1:NM_001350450:exon22:c.G2327A:p.R776Q,RIMS1:NM_001350468:exon22:c.G2516A:p.R839Q,RIMS1:NM_001350470:exon22:c.G2432A:p.R811Q,RIMS1:NM_001350474:exon22:c.G2717A:p.R906Q,RIMS1:NM_001350428:exon23:c.G2402A:p.R801Q,RIMS1:NM_001350430:exon23:c.G2399A:p.R800Q,RIMS1:NM_001350434:exon23:c.G2546A:p.R849Q,RIMS1:NM_001350438:exon23:c.G2651A:p.R884Q,RIMS1:NM_001350442:exon23:c.G2654A:p.R885Q,RIMS1:NM_001350445:exon23:c.G2552A:p.R851Q,RIMS1:NM_001350447:exon23:c.G2831A:p.R944Q,RIMS1:NM_001350467:exon23:c.G2591A:p.R864Q,RIMS1:NM_001350435:exon24:c.G2933A:p.R978Q,RIMS1:NM_001350439:exon24:c.G2915A:p.R972Q,RIMS1:NM_001350441:exon24:c.G2912A:p.R971Q,RIMS1:NM_001350443:exon24:c.G2885A:p.R962Q,RIMS1:NM_001350454:exon24:c.G2894A:p.R965Q,RIMS1:NM_001350457:exon24:c.G2924A:p.R975Q,RIMS1:NM_001350460:exon24:c.G2864A:p.R955Q,RIMS1:NM_001350463:exon24:c.G2669A:p.R890Q,RIMS1:NM_001350464:exon24:c.G2672A:p.R891Q,RIMS1:NM_001168407:exon25:c.G2984A:p.R995Q,RIMS1:NM_001350414:exon25:c.G2945A:p.R982Q,RIMS1:NM_001350418:exon25:c.G2963A:p.R988Q,RIMS1:NM_001350420:exon25:c.G3098A:p.R1033Q,RIMS1:NM_001350421:exon25:c.G2843A:p.R948Q,RIMS1:NM_001350425:exon25:c.G2942A:p.R981Q,RIMS1:NM_001350431:exon25:c.G3080A:p.R1027Q,RIMS1:NM_001350448:exon25:c.G2987A:p.R996Q,RIMS1:NM_001350458:exon25:c.G2993A:p.R998Q,RIMS1:NM_001350459:exon25:c.G2846A:p.R949Q,RIMS1:NM_001350461:exon25:c.G2714A:p.R905Q,RIMS1:NM_001350466:exon25:c.G2675A:p.R892Q,RIMS1:NM_001350469:exon25:c.G2744A:p.R915Q,RIMS1:NM_001350471:exon25:c.G2825A:p.R942Q,RIMS1:NM_001350415:exon26:c.G3041A:p.R1014Q,RIMS1:NM_001350416:exon26:c.G2990A:p.R997Q,RIMS1:NM_001350433:exon26:c.G3071A:p.R1024Q,RIMS1:NM_001350437:exon26:c.G2927A:p.R976Q,RIMS1:NM_001350446:exon26:c.G3170A:p.R1057Q,RIMS1:NM_001350456:exon26:c.G3167A:p.R1056Q,RIMS1:NM_001350462:exon26:c.G3029A:p.R1010Q,RIMS1:NM_001350436:exon27:c.G3176A:p.R1059Q,RIMS1:NM_014989:exon34:c.G5024A:p.R1675Q	Cone-rod dystrophy 7	.	.	.	.	.	.	.	.	.	.	1044345	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.029653449586	.	.	1.658e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs767732863	2.737e-06	2.736e-06	4.084e-06	1.375e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.50132	D	0.075	0.42794	T	0.998	0.73220	D	0.945	0.68163	D	0.000035	0.55875	D	0.000000	0.999673	0.81001	D	1.5	0.37844	L	2.44	0.21865	T	-3.2	0.71397	D	0.759	0.75742	-1.0579	0.12286	T	0.095	0.35818	T	10	0.668852	0.70590	D	0.029653	0.52125	D	0.429	0.73590	0.387	0.40788	0.713529394019	0.71102	0.4411909763478903	0.44036	1.37082442145	0.84528	0.710346221924	0.68644	T	0.570511	0.85771	D	0.108649	0.65210	D	0.0874183	0.76072	D	0.953358948230743	0.64006	D	0.943306	0.78595	D	0.41397807	0.61688	0.25007257	0.50591	0.41397807	0.61689	0.25007257	0.50590	-10.013	0.73990	D	.	.	0.151	0.67230	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.171977	0.86691	29.0	0.9994645763845027	0.99901	0.98201	0.80484	D	AEFI	0.942648	0.94749	D	0.708820442382276	0.80211	7.24428	0.724038456609149	0.84202	8.22733	0.999999964729196	0.74766	0.638212	0.43195	0	0.627178	0.54094	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	8.144000	0.89542	11.880000	0.98808	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.129	0.93383	883	0.28872	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1595.43	34	chr6	72400659	.	G	A	1595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=452;ExcessHet=0;FS=1.461;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.552;SOR=0.532	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1149	9	0	1	0
chr6	73518506	73518506	C	T	exonic	EEF1A1	.	nonsynonymous SNV	EEF1A1:NM_001402:exon6:c.G877A:p.E293K	.	473	1036	13	0	0	13	0.00623501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.134818783594	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312467300	0.0004	0.0062	0.0003	0.0004	0.0012	0.0003	0.0003	0.0010	0.0009	6.024e-05	0.0001	0.0006	0	0.0001	0.0002	0.0003	0.0003	0.0012	0.0002	0.0021	0.0001	0.0002	0.0024	0.0001	0.0001	0.0014	0.0011	9.686e-05	0	6.65e-05	0	0	9.515e-05	0	0.0001	0.0005	0.0024	0.04	0.42199	D	0.035	0.52727	D	0.124	0.26825	B	0.127	0.32738	B	0.000000	0.84330	U	0.000000	1	0.81001	D	.	.	.	-0.23	0.66652	T	-2.97	0.61865	D	0.942	0.94904	0.029	0.82835	D	0.448	0.78342	T	10	0.8407221	0.83228	D	0.134819	0.81727	D	0.583	0.83249	.	.	0.897034101692	0.89601	0.8300957998537681	0.82968	1.5806642636	0.88385	0.857482016087	0.90739	D	0.544751	0.84477	D	0.342458	0.85998	D	0.254141	0.85814	D	0.591327620665166	0.36058	D	0.875412	0.58680	D	0.5682314	0.70963	0.44342095	0.67559	0.5682314	0.70964	0.44342095	0.67559	-12.759	0.88346	D	.	.	0.995	0.99585	P	.;.;.;.;.	.;.;.;.;.	4.902669	0.80590	27.4	0.99853741485947101	0.93279	0.95047	0.63245	D	AEFBHCI	0.936541	0.93302	D	0.486767721591307	0.66317	4.934478	0.495264674362681	0.67674	5.115977	1.0	0.98316	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.71	4.71	0.59010	7.573000	0.81745	1.746000	0.28438	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.978000	0.57271	0.0:1.0:0.0:0.0	18.092	0.89406	917	0.20147	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	124.02	63	chr6	73518506	.	C	T	124.02	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.353;DP=477;ExcessHet=0.2348;FS=2;InbreedingCoeff=-0.1027;MLEAC=1;MLEAF=0.05;MQ=46.99;MQRankSum=-2.054;QD=1.05;ReadPosRankSum=1.16;SOR=0.481	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	8	0	2	0
chr6	78955640	78955640	C	A	exonic	PHIP	.	nonsynonymous SNV	PHIP:NM_017934:exon33:c.G3825T:p.M1275I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00992830778939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.062e-06	5.719e-06	0	2.052e-06	1.505e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.505e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.16903	T	0.561	0.09083	T	0.008	0.14655	B	0.01	0.14941	B	0.000002	0.62929	D	0.061355	0.999997	0.58761	D	1.445	0.36358	L	1.08	0.39401	T	-0.58	0.17417	N	0.426	0.46555	-1.0898	0.05565	T	0.039	0.16634	T	9	0.22626242	0.39477	T	0.009928	0.25856	T	0.102	0.29158	0.235	0.16457	0.70819069214	0.70564	0.5213145317216192	0.52054	0.724763160997	0.62413	0.714088201523	0.69186	T	0.068	0.33321	T	0.0344155	0.56310	T	-0.188341	0.55746	T	0.800812005996704	0.46408	D	0.813119	0.46553	T	0.123438925	0.28984	0.12247751	0.29542	0.123438925	0.28984	0.12247751	0.29542	-3.483	0.16195	T	.	.	0.735	0.74430	P	.	.	3.602508	0.50895	23.0	0.96877988047832342	0.31446	0.98243	0.80867	D	AEFGBI	0.553945	0.56499	D	-0.021017022561338	0.40905	2.437347	0.18021869730585	0.48762	3.088003	0.999689537206565	0.41756	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.3	5.3	0.74745	4.460000	0.59844	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9191:0.0:0.0809	11.752	0.51123	909	0.22467	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	457.43	33	chr6	78955640	.	C	A	457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.685;DP=343;ExcessHet=0;FS=1.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.391;SOR=0.512	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1052	9	0	1	0
chr6	79214995	79214995	C	T	exonic	HMGN3	.	nonsynonymous SNV	HMGN3:NM_001201362:exon2:c.G43A:p.G15R,HMGN3:NM_001201363:exon2:c.G43A:p.G15R,HMGN3:NM_001318884:exon2:c.G43A:p.G15R,HMGN3:NM_001318886:exon2:c.G43A:p.G15R,HMGN3:NM_001318887:exon2:c.G43A:p.G15R,HMGN3:NM_001318888:exon2:c.G43A:p.G15R,HMGN3:NM_004242:exon2:c.G43A:p.G15R,HMGN3:NM_138730:exon2:c.G43A:p.G15R	.	.	.	.	.	.	.	.	.	.	.	2431920	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.199	0.0163661386091	.	.	4.156e-05	0	0	0	0	4.536e-05	0	0.0001	3.23e-05	5	154602	rs753089354	5.1e-05	5.683e-05	5.539e-05	4.66e-05	0.0069	4.11e-05	3.77e-05	0.0051	0.0045	0	2.773e-05	0	0	0	0.0069	1.812e-05	5.252e-05	0.0001	5.91e-05	5.906e-05	2.57e-05	9.401e-05	0.0006	3.076e-05	2.209e-05	0.0002	9e-05	2.407e-05	0	0	0	0	0	0.0034	5.88e-05	0	0.0006	0.019	0.72154	D	0.447	0.50226	T	1.0	0.90584	D	0.999	0.92359	D	0.000473	0.44119	D	0.146309	0.708832	0.33497	D	.	.	.	.	.	.	0.41	0.23156	N	0.23	0.33904	-0.4778	0.69447	T	0.295	0.66659	T	7	0.19896257	0.35887	T	0.016366	0.37594	T	0.199	0.48268	0.349	0.34598	0.522344865107	0.51879	0.19502163057696256	0.19420	1.49107376783	0.86883	0.624811172485	0.56410	T	0.13152	0.46106	T	-0.180262	0.23697	T	-0.237031	0.51089	T	0.462768516797936	0.31266	T	0.954005	0.82752	D	0.19342649	0.41052	0.13581632	0.32509	0.19342649	0.41052	0.13581632	0.32508	-8.494	0.64390	D	.	.	0.355	0.58505	A	.;.;.	.;.;.	5.516637	0.91739	32	0.99779968930028207	0.86693	0.88482	0.48430	D	AEFBI	0.545604	0.56004	D	0.537321203108101	0.69314	5.339307	0.511146975811371	0.68738	5.261829	0.996137400782838	0.34546	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	4.016000	0.56871	7.617000	0.62147	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.913	0.63385	845	0.36510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	234.43	34	chr6	79214995	.	C	T	234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.402;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=0.377;SOR=0.711	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,938	9	0	1	0
chr6	79916753	79916753	A	G	exonic	ELOVL4	.	nonsynonymous SNV	ELOVL4:NM_022726:exon6:c.T800C:p.I267T	Ichthyosis, spastic quadriplegia, and mental retardation, Autosomal recessive;Stargardt disease 3, Autosomal dominant	0	1487	32	3	0	38	0.0126162	.	.	.	140907	Stargardt_disease_3|Retinal_dystrophy|not_provided|not_specified	MONDO:MONDO:0010819,MedGen:C1838644,OMIM:600110,Orphanet:827|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0055	0.00579073	0.0071	0.0011	0.0022	0	0.0228	0.0068	0.0066	0.0129	0.0067464	1043	154602	rs148594713	0.0082	0.0082	0.0081	0.0082	0.0141	0.0080	0.0080	0.0135	0.0132	0.0010	0.0025	0.0018	0	0.0196	0.0101	0.0080	0.0093	0.0141	0.0066	0.0066	0.0058	0.0074	0.0124	0.0062	0.0061	0.0099	0.0090	0.0013	0	0.0073	0.0012	0	0.0219	0.0136	0.0077	0.0052	0.0124	0.343	0.12592	T	0.319	0.19188	T	0.0	0.02946	B	0.005	0.11217	B	0.044023	0.23680	N	0.517989	0.999158	0.21565	N	1.365	0.34158	L	1.83	0.24841	T	-0.94	0.25118	N	0.064	0.03613	-0.9856	0.33687	T	0.015	0.06186	T	10	0.0051600635	0.00112	T	.	.	.	0.035	0.08770	.	.	0.043077524339	0.03247	0.6968851545026064	0.69629	0.474802337914	0.46665	0.357197225094	0.18978	T	0.102273	0.40983	T	-0.595285	0.00156	T	-0.616185	0.11487	T	0.013321040287571	0.00239	T	0.724428	0.33821	T	0.057682335	0.11511	0.045149926	0.06010	0.06052741	0.12429	0.05890448	0.10963	-7.566	0.58073	D	0.19057206633329046	0.24972	0.24	0.47404	B	.	.	2.009121	0.25529	16.79	0.81669222591450186	0.13801	0.85382	0.44509	D	AEFI	0.156425	0.28177	N	-0.457078194631508	0.23501	1.262472	-0.36000022960442	0.26202	1.445678	0.00141027761161683	0.08512	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.95	2.12	0.26372	3.218000	0.50894	2.048000	0.30332	0.756000	0.94297	1.000000	0.71638	0.002000	0.18203	0.992000	0.67800	0.4745:0.0:0.1967:0.3288	3.571	0.07468	692	0.58729	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.008152	0.005848	0.000000	0.008621	0.006098	0.030303	0.05	1357.43	35	chr6	79916753	.	A	G	1357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.205;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.622;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	9	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	2742.67	63	chr6	80007990	.	G	C	2742.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.702;DP=385;ExcessHet=1.5895;FS=272.212;InbreedingCoeff=-0.4966;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=2.21;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:23,0:23:0:.:.:0,0,239:.	2	0	3	5
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1939.92	54	chr6	80007991	.	AGTTTTG	A	1939.92	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.161;DP=517;ExcessHet=1.5895;FS=207.722;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=2.12;SOR=8.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,108,1620:.	8	0	2	0
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1939.92	54	chr6	80007991	.	AGTTTT	A	1939.92	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.161;DP=517;ExcessHet=1.5895;FS=207.722;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=2.12;SOR=8.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,108,1620:.	9	0	1	0
chr6	80007995	80007995	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	993.41	50	chr6	80007995	.	T	*	993.41	.	AC=2;AF=0.25;AN=8;BaseQRankSum=0.18;DP=356;ExcessHet=6.4098;FS=299.871;InbreedingCoeff=-0.2364;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.76;SOR=9.23	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:18,0:18:0:.:.:0,0,0:.	2	0	2	6
chr6	80007995	80007995	-	CCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.326_327insCCCC:p.A110Pfs*3,TTK:NM_003318:exon3:c.326_327insCCCC:p.A110Pfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	993.41	50	chr6	80007995	.	T	TCCCC	993.41	.	AC=2;AF=0.25;AN=8;BaseQRankSum=0.18;DP=356;ExcessHet=6.4098;FS=299.871;InbreedingCoeff=-0.2364;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=1.76;SOR=9.23	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:18,0:18:0:.:.:0,0,0:.	2	0	2	6
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	354.9	53	chr6	80007996	.	T	TCCCCC	354.9	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.758;DP=346;ExcessHet=0.4139;FS=110.827;InbreedingCoeff=0.038;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.79;ReadPosRankSum=2.43;SOR=7.658	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:18,0:18:0:.:.:0,0,0:.	3	0	1	6
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	354.9	53	chr6	80007996	.	T	*	354.9	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.758;DP=346;ExcessHet=0.4139;FS=110.827;InbreedingCoeff=0.038;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.79;ReadPosRankSum=2.43;SOR=7.658	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:18,0:18:0:.:.:0,0,0:.	3	0	1	6
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	696.78	51	chr6	80007997	.	G	GCCCCCA	696.78	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.425;DP=418;ExcessHet=0;FS=80.992;InbreedingCoeff=-0.0746;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.59;SOR=6.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:29,0:29:2:.:.:0,2,542:.	9	0	1	0
chr6	80039742	80039742	A	G	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon19:c.A2174G:p.Y725C,TTK:NM_003318:exon19:c.A2177G:p.Y726C	.	.	.	.	.	.	.	.	.	.	.	3347674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.148	0.0155001435632	0.0002	0.000399361	8.299e-05	0.0007	0	0	0	3.014e-05	0	6.066e-05	7.76e-05	12	154602	rs150451663	4.45e-05	4.446e-05	4.422e-05	4.478e-05	0.0008	3.566e-05	3.245e-05	0.0005	0.0005	0.0008	4.833e-05	0	2.613e-05	0	0.0005	4.538e-06	0.0002	0.0002	0.0003	0.0003	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.557e-05	0	0	0	0	0	0	0.0002	0.243	0.18061	T	0.421	0.14116	T	0.006	0.13644	B	0.014	0.16862	B	0.000000	0.84330	D	0.090273	0.978469	0.39464	D	0.56	0.15190	N	-0.81	0.73949	T	-0.22	0.10480	N	0.331	0.37197	-0.9872	0.33298	T	0.107	0.38931	T	10	0.090622365	0.15802	T	0.015	0.36266	T	0.148	0.39182	.	.	0.642777527255	0.63982	0.5088495421668111	0.50806	0.176995539905	0.19917	0.602975189686	0.53324	T	0.067095	0.33114	T	-0.307389	0.07979	T	-0.325286	0.41992	T	0.0354164342193754	0.02879	T	0.946905	0.79945	D	0.2452561	0.47482	0.14645247	0.34695	0.2452561	0.47482	0.14645247	0.34694	-3.518	0.20610	T	.	.	0.060	0.00876	B	.;.;.	.;.;.	2.788908	0.36656	20.3	0.87177441898149788	0.17042	0.72517	0.35492	D	AEFBI	0.137093	0.25797	N	-0.308383669149755	0.28828	1.593418	-0.166883809567477	0.32763	1.86726	0.530136864034174	0.21168	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.75	3.41	0.38145	5.211000	0.65052	9.186000	0.79105	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.5935:0.0:0.4065:0.0	4.610	0.11788	840	0.37365	.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1233.43	33	chr6	80039742	.	A	G	1233.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.584;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.63;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	9	0	1	0
chr6	82217974	82217974	C	T	exonic	IBTK	.	nonsynonymous SNV	IBTK:NM_001300906:exon10:c.G1412A:p.S471N,IBTK:NM_015525:exon10:c.G1412A:p.S471N	.	445	1070	7	0	0	7	0.00326036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0114311428952	0.0006	0.000599042	0.0005	0	0.0002	0	0	0.0007	0.0012	0.0005	0.0003946	61	154602	rs147304035	0.0006	0.0006	0.0005	0.0006	0.0046	0.0005	0.0005	0.0032	0.0028	0.0002	0.0006	0	0	1.893e-05	0.0046	0.0006	0.0010	0.0004	0.0006	0.0006	0.0005	0.0007	0.0011	0.0005	0.0004	0.0007	0.0006	0.0002	0	0.0011	0	0	0	0.0102	0.0007	0.0033	0.0006	0.676	0.05973	T	0.509	0.12107	T	0.0	0.02946	B	0.0	0.01387	B	0.055572	0.22632	N	0.534882	0.99947	0.21151	N	-0.805	0.01590	N	2.0	0.27331	T	-0.48	0.15379	N	0.112	0.18239	-0.9157	0.46129	T	0.006	0.01981	T	10	0.004614651	0.00096	T	0.011431	0.29047	T	0.043	0.11576	.	.	0.179529687257	0.17594	0.16220586137641543	0.16140	0.146048444311	0.16491	0.30689406395	0.11438	T	0.070371	0.33944	T	-0.641147	0.00082	T	-0.766545	0.02883	T	0.00448100680315643	0.00048	T	.	.	.	0.02049657	0.00610	0.035944056	0.02942	0.02049657	0.00610	0.035944056	0.02941	-4.174	0.26374	T	.	.	0.057	0.00730	B	.;.;.;.	.;.;.;.	0.834435	0.12059	8.614	0.46871761016382413	0.03788	0.07627	0.13635	N	AEFBHI	0.042010	0.06462	N	-1.2148429126736	0.04783	0.2166513	-1.04707363547837	0.08767	0.4327178	0.424375478619112	0.20317	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.53	-0.781	0.10412	-0.924000	0.04104	0.006000	0.13366	-0.187000	0.09635	0.000000	0.06391	0.867000	0.27550	0.991000	0.66497	0.1414:0.1688:0.0:0.6898	7.045	0.24221	867	0.32089	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1542.43	37	chr6	82217974	.	C	T	1542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.943;DP=413;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-1.654;SOR=0.465	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1227	9	0	1	0
chr6	83122011	83122011	C	T	exonic	DOP1A	.	nonsynonymous SNV	DOP1A:NM_001199942:exon11:c.C1154T:p.T385I,DOP1A:NM_015018:exon11:c.C1181T:p.T394I	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00933535475375	0.0051	0.00259585	0.0044	0.0017	0.0028	0	0.0015	0.0069	0.0011	0.0002	0.0044501	688	154602	rs76960445	0.0062	0.0062	0.0064	0.0060	0.0076	0.0061	0.0060	0.0075	0.0074	0.0011	0.0031	7.684e-05	0	0.0026	0.0005	0.0076	0.0044	0.0002	0.0044	0.0045	0.0049	0.0039	0.0077	0.0042	0.0040	0.0072	0.0070	0.0016	0.0022	0.0034	0	0	0.0015	0	0.0077	0.0057	0	0.462	0.08813	T	0.478	0.11968	T	0.001	0.07471	B	0.003	0.08700	B	0.003350	0.35069	N	0.352416	1	0.81001	D	0	0.06538	N	1.97	0.22067	T	0.09	0.05917	N	0.195	0.21449	-1.0194	0.23910	T	0.012	0.04416	T	10	0.0042533875	0.00085	T	0.009335	0.24483	T	0.052	0.14661	.	.	0.043077524339	0.03247	0.1202150027543446	0.11948	0.275081966756	0.29991	0.30859580636	0.11695	T	0.008164	0.07514	T	-0.579238	0.00195	T	-0.599262	0.12874	T	0.00193168797959915	0.00020	T	0.952005	0.81587	D	0.035814017	0.04288	0.038407505	0.03703	0.035814017	0.04288	0.038407505	0.03703	-4.36	0.29010	T	.	.	0.074	0.08997	B	.;.;.	.;.;.	1.300062	0.17018	12.91	0.90906439548014295	0.20155	0.51620	0.28938	D	AEFGBI	0.049465	0.08550	N	-0.604477603999797	0.18809	0.9794968	-0.432464038096793	0.24051	1.314882	0.0526180234328445	0.14912	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.33	4.18	0.48473	2.191000	0.42272	1.578000	0.27457	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.2592:0.0:0.7408	7.428	0.26279	714	0.56256	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1176.43	34	chr6	83122011	.	C	T	1176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.198;DP=419;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.6;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	9	0	1	0
chr6	83253694	83253694	A	C	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon7:c.T749G:p.V250G	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0087984933603	.	.	2.476e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs763964199	1.508e-05	1.573e-05	1.228e-05	1.791e-05	0.0002	9.87e-06	8.43e-06	9.814e-05	7.856e-05	0	0	0	0	0	0	5.406e-06	3.32e-05	0.0002	2.629e-05	2.627e-05	0	5.381e-05	0.0004	8.14e-06	5.14e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0.0010	0.0004	0.163	0.23450	T	0.381	0.15939	T	0.017	0.17573	B	0.074	0.28220	B	0.943988	0.08334	N	0.976106	0.65158	0.32968	D	0.305	0.10234	N	1.66	0.27486	T	-0.33	0.12472	N	0.27	0.30574	-1.0161	0.24980	T	0.015	0.06186	T	10	0.087950975	0.15099	T	0.008798	0.23221	T	0.018	0.03083	0.352	0.35084	0.264081493735	0.26024	0.43183245674731524	0.43100	0.056513214041	0.06243	0.228574216366	0.01864	T	0.06312	0.32093	T	-0.375635	0.03318	T	-0.540682	0.18229	T	0.0201394913706056	0.00715	T	0.748325	0.36895	T	0.24839602	0.47825	0.08157574	0.18549	0.24839602	0.47825	0.08157574	0.18548	-5.388	0.40804	T	.	.	0.107	0.20157	B	.	.	1.928082	0.24491	16.41	0.92662131468497233	0.22142	0.10277	0.15828	N	AEFGBI	0.103228	0.20687	N	-1.02016984999672	0.08186	0.38293	-0.948637347056986	0.10955	0.5551166	0.0123622035641783	0.12317	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	0.041	0.13528	1.075000	0.30328	3.162000	0.36573	-0.122000	0.13826	0.585000	0.27626	0.986000	0.30841	0.769000	0.36481	0.2391:0.4527:0.3082:0.0	4.958	0.13399	745	0.52414	Malic enzyme, N-terminal domain|Malic enzyme, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1101.43	33	chr6	83253694	.	A	C	1101.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.28;SOR=0.705	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1196	9	0	1	0
chr6	83593589	83593589	C	T	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001256718:exon16:c.G1228A:p.V410I,SNAP91:NM_001376687:exon16:c.G1564A:p.V522I,SNAP91:NM_001376695:exon16:c.G1537A:p.V513I,SNAP91:NM_001376696:exon16:c.G1537A:p.V513I,SNAP91:NM_001376697:exon16:c.G1537A:p.V513I,SNAP91:NM_001376698:exon16:c.G1537A:p.V513I,SNAP91:NM_001376701:exon16:c.G1537A:p.V513I,SNAP91:NM_001376712:exon16:c.G1564A:p.V522I,SNAP91:NM_001376716:exon16:c.G1537A:p.V513I,SNAP91:NM_001376717:exon16:c.G1537A:p.V513I,SNAP91:NM_001376728:exon16:c.G1405A:p.V469I,SNAP91:NM_001376733:exon16:c.G1564A:p.V522I,SNAP91:NM_001376734:exon16:c.G1564A:p.V522I,SNAP91:NM_001376736:exon16:c.G1537A:p.V513I,SNAP91:NM_001376737:exon16:c.G1564A:p.V522I,SNAP91:NM_001242792:exon17:c.G1585A:p.V529I,SNAP91:NM_001242793:exon17:c.G1579A:p.V527I,SNAP91:NM_001363677:exon17:c.G1585A:p.V529I,SNAP91:NM_001376675:exon17:c.G1579A:p.V527I,SNAP91:NM_001376676:exon17:c.G1579A:p.V527I,SNAP91:NM_001376677:exon17:c.G1579A:p.V527I,SNAP91:NM_001376678:exon17:c.G1579A:p.V527I,SNAP91:NM_001376679:exon17:c.G1579A:p.V527I,SNAP91:NM_001376680:exon17:c.G1579A:p.V527I,SNAP91:NM_001376681:exon17:c.G1579A:p.V527I,SNAP91:NM_001376682:exon17:c.G1579A:p.V527I,SNAP91:NM_001376683:exon17:c.G1579A:p.V527I,SNAP91:NM_001376684:exon17:c.G1579A:p.V527I,SNAP91:NM_001376685:exon17:c.G1579A:p.V527I,SNAP91:NM_001376686:exon17:c.G1579A:p.V527I,SNAP91:NM_001376688:exon17:c.G1579A:p.V527I,SNAP91:NM_001376689:exon17:c.G1579A:p.V527I,SNAP91:NM_001376690:exon17:c.G1579A:p.V527I,SNAP91:NM_001376691:exon17:c.G1579A:p.V527I,SNAP91:NM_001376692:exon17:c.G1579A:p.V527I,SNAP91:NM_001376693:exon17:c.G1558A:p.V520I,SNAP91:NM_001376694:exon17:c.G1579A:p.V527I,SNAP91:NM_001376699:exon17:c.G1579A:p.V527I,SNAP91:NM_001376700:exon17:c.G1579A:p.V527I,SNAP91:NM_001376702:exon17:c.G1579A:p.V527I,SNAP91:NM_001376703:exon17:c.G1579A:p.V527I,SNAP91:NM_001376704:exon17:c.G1579A:p.V527I,SNAP91:NM_001376705:exon17:c.G1579A:p.V527I,SNAP91:NM_001376706:exon17:c.G1579A:p.V527I,SNAP91:NM_001376707:exon17:c.G1579A:p.V527I,SNAP91:NM_001376708:exon17:c.G1579A:p.V527I,SNAP91:NM_001376709:exon17:c.G1579A:p.V527I,SNAP91:NM_001376710:exon17:c.G1579A:p.V527I,SNAP91:NM_001376711:exon17:c.G1579A:p.V527I,SNAP91:NM_001376713:exon17:c.G1579A:p.V527I,SNAP91:NM_001376714:exon17:c.G1579A:p.V527I,SNAP91:NM_001376718:exon17:c.G1579A:p.V527I,SNAP91:NM_001376719:exon17:c.G1579A:p.V527I,SNAP91:NM_001376723:exon17:c.G1405A:p.V469I,SNAP91:NM_001376726:exon17:c.G1405A:p.V469I,SNAP91:NM_001376731:exon17:c.G1579A:p.V527I,SNAP91:NM_014841:exon17:c.G1585A:p.V529I,SNAP91:NM_001376715:exon18:c.G1486A:p.V496I,SNAP91:NM_001376720:exon18:c.G1405A:p.V469I,SNAP91:NM_001376721:exon18:c.G1405A:p.V469I,SNAP91:NM_001376735:exon18:c.G1405A:p.V469I,SNAP91:NM_001256717:exon20:c.G1474A:p.V492I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00517523897528	0.0002	0.000399361	0.0002	0.0011	0.0014	0	0.0008	0	0	0.0001	8.41e-05	13	154602	rs185738452	3.314e-05	3.762e-05	3.488e-05	3.136e-05	0.0005	2.554e-05	2.289e-05	0.0003	0.0003	0.0005	0.0002	0	2.703e-05	1.984e-05	0.0003	1.193e-05	6.797e-05	4.903e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	9.706e-05	0.0004	0.0003	0.0005	0	6.546e-05	0	0	9.436e-05	0	1.471e-05	0	0	0.022	0.48642	D	0.444	0.14412	T	0.751	0.43285	P	0.098	0.30479	B	0.521613	0.11735	N	0.804542	1	0.81001	D	1.39	0.34934	L	2.55	0.14038	T	-0.26	0.11185	N	0.096	0.13198	-0.9438	0.42009	T	0.009	0.03315	T	10	0.025821805	0.00765	T	0.005175	0.13156	T	0.036	0.09122	.	.	0.295975759948	0.29207	0.14154824931179943	0.14077	0.106651462539	0.12055	0.310867905617	0.12039	T	0.010145	0.27673	T	-0.517987	0.00452	T	-0.619919	0.11192	T	0.0357514714376812	0.02937	T	0.79872	0.45852	T	0.12154864	0.28580	0.0772983	0.17204	0.12154864	0.28580	0.0772983	0.17204	-5.806	0.44774	T	.	.	0.113	0.23219	B	.;.;.;.;.;.	.;.;.;.;.;.	2.940043	0.39084	20.9	0.77495048902959141	0.11900	0.91281	0.53218	D	AEFBCI	0.668890	0.63651	D	-0.131803163012647	0.36011	2.07595	0.0405116287765267	0.41615	2.503178	0.999098429627806	0.38425	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.42	4.55	0.55429	3.666000	0.54277	1.005000	0.23289	0.524000	0.24156	1.000000	0.71638	0.655000	0.25985	0.983000	0.59808	0.0:0.7813:0.1426:0.0761	9.515	0.38264	677	0.60274	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1296.43	33	chr6	83593589	.	C	T	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=434;ExcessHet=0;FS=3.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.352;SOR=0.749	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1308,0,1086	9	0	1	0
chr6	84171654	84171654	C	T	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon17:c.G2003A:p.R668Q,CEP162:NM_014895:exon17:c.G2231A:p.R744Q	.	586	928	7	1	0	9	0.00482574	.	.	.	2820517	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	.	0.0023	0.00199681	0.0066	0.0007	0.0029	0	0.0279	0.0061	0.0104	0.0091	0.002956	457	154602	rs142624944	0.0032	0.0033	0.0031	0.0033	0.0070	0.0031	0.0031	0.0057	0.0056	0.0004	0.0009	0.0010	0	0.0152	0.0070	0.0028	0.0030	0.0062	0.0035	0.0035	0.0032	0.0038	0.0044	0.0033	0.0032	0.0038	0.0036	0.0004	0.0121	0.0008	0.0009	0	0.0167	0.0137	0.0042	0.0024	0.0044	0.395	0.10659	T	0.657	0.06576	T	0.055	0.22733	B	0.008	0.13708	B	0.738434	0.09796	N	0.878115	1	0.08975	N	1.485	0.37223	L	1.49	0.31470	T	-0.7	0.19933	N	0.111	0.09914	-0.9481	0.41296	T	0.016	0.06616	T	10	0.002163887	0.00031	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.12478103710927478	0.12404	0.0184041785563	0.01797	0.230163395405	0.01980	T	0.007522	0.06921	T	-0.681509	0.00047	T	-0.747011	0.03604	T	0.0170301523191542	0.00451	T	0.675632	0.28413	T	0.035422776	0.04166	0.028137911	0.01023	0.035422776	0.04165	0.028137911	0.01022	-5.384	0.40765	T	.	.	0.077	0.06525	B	.;.;.	.;.;.	1.238415	0.16341	12.48	0.93773666028667269	0.23728	0.02449	0.06892	N	AEFBI	0.037134	0.05058	N	-0.91964373721161	0.10383	0.4959058	-0.826278423357771	0.13859	0.7212081	9.41714521446526E-6	0.01202	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.592	0.16654	-1.134000	0.03340	-0.802000	0.07370	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.981000	0.58702	0.1262:0.4481:0.0:0.4257	5.636	0.16811	582	0.69555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.008772	0.000000	0.017241	0.006098	0.003788	0.05	592.43	33	chr6	84171654	.	C	T	592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.905;DP=376;ExcessHet=0;FS=0.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.525;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,931	9	0	1	0
chr6	85489573	85489573	G	A	exonic	NT5E	.	nonsynonymous SNV	NT5E:NM_001204813:exon6:c.G1184A:p.R395Q,NT5E:NM_002526:exon6:c.G1184A:p.R395Q	Calcification of joints and arteries, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.168898401197	.	.	2.5e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs753614011	2.19e-05	2.189e-05	9.531e-06	3.439e-05	0.0003	1.585e-05	1.356e-05	0.0002	0.0002	0	2.236e-05	0	2.521e-05	0	0	2.699e-06	3.312e-05	0.0003	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.038	0.42783	D	0.038	0.51421	D	0.995	0.67487	D	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.77	0.99599	H	-0.06	0.63568	T	-3.28	0.65972	D	0.94	0.94668	0.453	0.89883	D	0.540	0.83051	D	10	0.987826	0.99168	D	0.168898	0.84687	D	0.582	0.83193	0.957	0.99536	0.994160762649	0.99409	0.9801491089052791	0.98005	0.730975869236	0.62730	0.529981374741	0.43032	T	0.842575	0.96342	D	0.0203948	0.54436	T	0.083668	0.75823	D	0.912491381168365	0.56842	D	0.983802	0.94506	D	0.8873786	0.90284	0.70295596	0.82493	0.8873786	0.90285	0.70295596	0.82494	-6.173	0.67903	T	0.6844683068170683	0.76130	0.746	0.80596	P	.;.	.;.	5.308550	0.89121	29.9	0.99952800770052652	0.99957	0.97367	0.74301	D	AEFBCI	0.928626	0.91312	D	0.953185757039083	0.94111	12.50997	0.838724219811146	0.92342	11.37056	0.999999839386973	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.66	4.79	0.60909	8.919000	0.92353	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.849000	0.40138	0.0704:0.0:0.9296:0.0	14.463	0.67040	586	0.69252	.;5'-Nucleotidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1672.43	38	chr6	85489573	.	G	A	1672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=842;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.922;SOR=0.577	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	9	0	1	0
chr6	85548358	85548358	T	C	exonic	SNX14	.	nonsynonymous SNV	SNX14:NM_001350536:exon7:c.A678G:p.I226M,SNX14:NM_001350537:exon7:c.A675G:p.I225M,SNX14:NM_001350542:exon7:c.A522G:p.I174M,SNX14:NM_001350543:exon7:c.A519G:p.I173M,SNX14:NM_020468:exon7:c.A678G:p.I226M,SNX14:NM_001350545:exon8:c.A366G:p.I122M,SNX14:NM_001350546:exon8:c.A366G:p.I122M,SNX14:NM_001297614:exon9:c.A810G:p.I270M,SNX14:NM_001304479:exon9:c.A654G:p.I218M,SNX14:NM_001350533:exon9:c.A807G:p.I269M,SNX14:NM_001350534:exon9:c.A807G:p.I269M,SNX14:NM_001350535:exon9:c.A807G:p.I269M,SNX14:NM_001350538:exon9:c.A666G:p.I222M,SNX14:NM_001350539:exon9:c.A651G:p.I217M,SNX14:NM_001350540:exon9:c.A810G:p.I270M,SNX14:NM_001350541:exon9:c.A810G:p.I270M,SNX14:NM_001350544:exon9:c.A510G:p.I170M,SNX14:NM_153816:exon9:c.A810G:p.I270M,SNX14:NM_001350532:exon10:c.A873G:p.I291M	Spinocerebellar ataxia, autosomal recessive 20, Autosomal recessive	23	202	1	0	0	1	0.00246914	.	.	.	2670709	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.0116230830359	.	.	5.023e-05	0	0	0	0	6.097e-05	0	0.0001	3.88e-05	6	154602	rs759158613	2.614e-05	2.736e-05	1.779e-05	3.457e-05	0.0004	1.943e-05	1.701e-05	0.0001	0.0001	0	2.297e-05	0	0	0	0.0004	1.353e-05	4.996e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.079	0.42487	T	0.137	0.34837	T	0.088	0.25022	B	0.042	0.24114	B	0.000001	0.84330	D	0.092717	0.990401	0.41152	D	1.7	0.43825	L	1.67	0.34648	T	-1.04	0.30346	N	0.469	0.52119	-1.0922	0.05175	T	0.033	0.14117	T	10	0.20804784	0.37122	T	0.011623	0.29427	T	0.101	0.28911	0.542	0.65446	0.333154297509	0.32921	0.4730522751497855	0.47224	0.278459395054	0.30327	0.481923669577	0.36322	T	0.047641	0.27782	T	-0.26696	0.12099	T	-0.356817	0.38420	T	0.0639217303205473	0.07771	T	0.79772	0.44184	T	0.19108018	0.40721	0.15341425	0.36052	0.19108018	0.40721	0.15341425	0.36051	-5.588	0.42683	T	0.2598604365378795	0.35098	0.106	0.19518	B	.;.;.;.;.;.	.;.;.;.;.;.	2.213049	0.28233	17.73	0.79045975649513556	0.12566	0.94001	0.59815	D	AEBI	0.405457	0.47834	N	-0.373390369652468	0.26420	1.441806	-0.263888456636647	0.29297	1.640256	1.02060266587508E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.69	3.52	0.39415	0.764000	0.26197	1.929000	0.29759	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1339:0.0758:0.0:0.7903	6.838	0.23128	735	0.53711	.;Phox-associated domain|Phox-associated domain|Phox-associated domain;Phox-associated domain|Phox-associated domain|Phox-associated domain;.;.;Phox-associated domain|Phox-associated domain|Phox-associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	71.43	28	chr6	85548358	.	T	C	71.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.438;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.76;ReadPosRankSum=-0.881;SOR=1.022	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,214	9	0	1	0
chr6	85549775	85549775	G	C	exonic	SNX14	.	nonsynonymous SNV	SNX14:NM_001350536:exon6:c.C607G:p.L203V,SNX14:NM_001350537:exon6:c.C604G:p.L202V,SNX14:NM_001350542:exon6:c.C451G:p.L151V,SNX14:NM_001350543:exon6:c.C448G:p.L150V,SNX14:NM_020468:exon6:c.C607G:p.L203V,SNX14:NM_001350545:exon7:c.C295G:p.L99V,SNX14:NM_001350546:exon7:c.C295G:p.L99V,SNX14:NM_001297614:exon8:c.C739G:p.L247V,SNX14:NM_001304479:exon8:c.C583G:p.L195V,SNX14:NM_001350533:exon8:c.C736G:p.L246V,SNX14:NM_001350534:exon8:c.C736G:p.L246V,SNX14:NM_001350535:exon8:c.C736G:p.L246V,SNX14:NM_001350539:exon8:c.C580G:p.L194V,SNX14:NM_001350540:exon8:c.C739G:p.L247V,SNX14:NM_001350541:exon8:c.C739G:p.L247V,SNX14:NM_153816:exon8:c.C739G:p.L247V,SNX14:NM_001350532:exon9:c.C802G:p.L268V	Spinocerebellar ataxia, autosomal recessive 20, Autosomal recessive	443	1075	4	0	0	4	0.00185701	.	.	.	3536930	Autosomal_recessive_spinocerebellar_ataxia_20	MONDO:MONDO:0014601,MedGen:C5190595,OMIM:616354,Orphanet:397709	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0272344632686	.	0.000399361	0.0003	0	0	0	0	1.5e-05	0	0.0020	0.0002329	36	154602	rs534391113	0.0002	0.0002	9.122e-05	0.0002	0.0025	0.0001	0.0001	0.0023	0.0021	0	2.237e-05	0	0	0	0.0007	4.497e-06	0.0001	0.0025	8.537e-05	8.531e-05	3.854e-05	0.0001	0.0021	4.954e-05	3.96e-05	0.0011	0.0009	0	0	0	0	0	0	0.0034	1.47e-05	0.0005	0.0021	0.036	0.44694	D	0.086	0.40909	T	0.772	0.43974	P	0.465	0.46596	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	1.68	0.38397	T	-1.18	0.30140	N	0.703	0.74735	-1.0920	0.05207	T	0.070	0.28609	T	10	0.028526306	0.00984	T	0.027234	0.50072	D	0.196	0.47777	0.728	0.86198	0.338110398507	0.33423	0.6141197638774364	0.61343	0.593719886852	0.54706	0.795635402203	0.81299	T	0.048796	0.28122	T	-0.21935	0.18080	T	-0.0943339	0.63833	T	0.168364907589467	0.18469	T	0.887811	0.62289	D	0.43176907	0.62868	0.3576441	0.61255	0.43176907	0.62868	0.3576441	0.61254	-4.612	0.36546	T	0.2615947892905255	0.35314	0.102	0.18037	B	.;.;.;.;.;.	.;.;.;.;.;.	3.740271	0.53550	23.4	0.99624691297480117	0.75655	0.98495	0.83383	D	AEFBI	0.890295	0.82520	D	0.231993751953326	0.52755	3.447769	0.384887557818041	0.60631	4.253027	0.999998545128348	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.35	5.35	0.76297	7.645000	0.82580	11.790000	0.96346	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.130	0.93385	734	0.53889	.;Phox-associated domain|Phox-associated domain|Phox-associated domain;Phox-associated domain|Phox-associated domain|Phox-associated domain;.;.;Phox-associated domain|Phox-associated domain|Phox-associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	685.43	34	chr6	85549775	.	G	C	685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=374;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.759;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	9	0	1	0
chr6	87255764	87255764	A	G	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.A2135G:p.K712R,ZNF292:NM_001351444:exon9:c.A1715G:p.K572R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0169757680738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.112	0.37589	T	0.999	0.77913	D	0.954	0.69447	D	0.000000	0.84330	D	0.085392	0.987339	0.40574	D	1.555	0.39373	L	0.77	0.49642	T	-1.56	0.37759	N	0.204	0.29774	-0.7820	0.56189	T	0.176	0.52068	T	10	0.19593701	0.35465	T	0.016976	0.38486	T	0.143	0.38195	0.42	0.46200	0.268702046668	0.26493	0.38918279183651977	0.38833	.	.	0.7731128335	0.77891	T	0.145039	0.48196	T	-0.0873648	0.38510	T	-0.36327	0.37672	T	0.856568217277527	0.50741	D	0.908009	0.67517	D	0.26205432	0.49266	0.2707598	0.52970	0.26205432	0.49266	0.2707598	0.52969	-4.808	0.34685	T	0.5214958039403004	0.59369	0.118	0.23952	B	.;.	.;.	4.280439	0.65203	24.8	0.99791346962526883	0.87661	0.88375	0.48274	D	AEFDBCI	0.400222	0.47519	N	0.626997210454761	0.74887	6.209858	0.652838559467563	0.78823	6.954297	0.417376288077897	0.20263	0.719381	0.83141	0	0.723133	0.82719	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	5.96	5.96	0.96695	4.332000	0.59063	9.425000	0.80773	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.445	0.83760	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	730.43	35	chr6	87255764	.	A	G	730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.972;DP=411;ExcessHet=0;FS=3.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=1.18;SOR=0.877	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	9	0	1	0
chr6	87260932	87260932	G	A	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.G7303A:p.V2435I,ZNF292:NM_001351444:exon9:c.G6883A:p.V2295I	.	427	1012	79	4	0	87	0.0412127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0057	0.00499201	0.0100	0.0022	0.0049	0.0001	0.0017	0.0104	0.0121	0.0245	0.0084087	1300	154602	rs61744959	0.0096	0.0096	0.0091	0.0100	0.0230	0.0094	0.0094	0.0222	0.0218	0.0019	0.0041	0.0017	0	0.0015	0.0193	0.0099	0.0093	0.0230	0.0063	0.0063	0.0065	0.0061	0.0201	0.0060	0.0058	0.0169	0.0157	0.0016	0	0.0041	0.0012	0	0.0009	0.0068	0.0103	0.0057	0.0201	0.406	0.10278	T	0.396	0.15206	T	0.006	0.13644	B	0.009	0.14300	B	0.461370	0.12387	N	0.768728	0.999999	0.08975	N	1.735	0.44892	L	3.34	0.06063	T	-0.22	0.10480	N	0.053	0.02462	-0.9008	0.47910	T	0.004	0.01400	T	10	0.0027675629	0.00043	T	.	.	.	0.033	0.08068	.	.	0.216943180021	0.21308	0.05458345058221593	0.05400	.	.	0.256128549576	0.04441	T	0.031842	0.22223	T	-0.710375	0.00032	T	-0.775596	0.02589	T	0.000202353479089497	0.00001	T	0.667533	0.27667	T	0.03097521	0.02854	0.028164731	0.01028	0.03119373	0.02914	0.028164731	0.01028	-3.79	0.20655	T	0.4322768024131565	0.51920	0.072	0.04198	B	.;.	.;.	0.563888	0.09324	6.105	0.75564123995781296	0.11124	0.51125	0.28823	D	AEFBCI	.	.	.	-0.591901078762334	0.19188	1.002366	-0.479853640002633	0.22708	1.234817	0.969723715095948	0.29151	0.651	0.46895	0	0.643519	0.57511	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.52	2.71	0.31092	0.799000	0.26688	0.955000	0.22950	0.618000	0.50648	0.128000	0.23311	0.915000	0.28207	0.944000	0.48669	0.0713:0.1142:0.6677:0.1467	6.622	0.22002	824	0.40336	.;.	.	.	.	.	rs61744959	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.018630	0.000000	0.017663	0.011696	0.000000	0.000000	0.030488	0.030303	0.1	2317.14	39	chr6	87260932	.	G	A	2317.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.892;DP=494;ExcessHet=0.2348;FS=4.283;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.293;SOR=1.035	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	8	0	2	0
chr6	87341239	87341239	C	T	exonic	SMIM8	.	nonsynonymous SNV	SMIM8:NM_001287445:exon3:c.C149T:p.S50F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000480547746474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs371533520	2.031e-05	7.952e-06	8.234e-06	3.206e-05	1.899e-05	7.94e-06	4.32e-06	5.05e-06	2.4e-06	0	0	0.0002	0	0	0	1.899e-05	0	0	3.956e-05	3.946e-05	3.864e-05	4.053e-05	5.888e-05	1.72e-05	1.133e-05	1.974e-05	1.126e-05	0	0	0	0.0006	0	0	0	5.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.062897205	0.08113	T	4.81E-4	0.00133	T	.	.	.	.	0.0401082797425	0.02173	.	.	.	.	.	.	.	0.015622	0.13069	T	-0.466168	0.00899	T	-0.907394	0.00452	T	.	.	.	0.348865	0.07732	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45762	B	.	.	0.407018	0.07781	4.468	0.60750775516981637	0.06539	0.00435	0.02127	N	AEFDBHCI	0.023184	0.01257	N	.	.	.	.	.	.	0.00717249068661772	0.11402	0.106106	0.02776	0	0.067934	0.01796	0	0.125526	0.03468	0	0.041654	0.00081	2	.	.	0.69	-1.38	0.08554	-1.401000	0.02608	.	.	-0.365000	0.05478	0.000000	0.06391	.	.	0.318000	0.24924	.	.	.	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	654.43	37	chr6	87341239	.	C	T	654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.47;DP=415;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-0.306;SOR=1.101	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	9	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	619.04	57	chr6	87418396	.	G	C	619.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.755;DP=604;ExcessHet=1.5895;FS=224.048;InbreedingCoeff=-0.2907;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.865;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:30:69:.:.:0,69,384:.	5	0	4	1
chr6	89265642	89265642	C	T	exonic	GABRR2	.	nonsynonymous SNV	GABRR2:NM_002043:exon7:c.G860A:p.R287H	.	419	1097	5	1	0	7	0.00318037	.	.	.	2253864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0156123209126	0.0004	0.000399361	0.0005	9.61e-05	0.0008	0	0	0.0006	0.0011	0.0005	0.0005045	78	154602	rs74529557	0.0004	0.0004	0.0004	0.0005	0.0080	0.0004	0.0004	0.0061	0.0055	0.0003	0.0010	3.827e-05	2.52e-05	0	0.0080	0.0004	0.0009	0.0003	0.0005	0.0005	0.0005	0.0004	0.0011	0.0004	0.0003	0.0007	0.0006	9.624e-05	0	0.0011	0	0	0	0.0102	0.0006	0.0014	0	.	.	.	0.344	0.17804	T	.	.	.	.	.	.	0.000007	0.62929	N	0.148471	0.999713	0.48481	D	1.255	0.31814	L	-2.09	0.86077	D	.	.	.	0.36	0.40164	-0.9687	0.37468	T	0.114	0.40605	T	8	0.047377884	0.04049	T	0.015612	0.36438	T	0.099	0.28413	.	.	0.863850240467	0.86253	0.6242270559348848	0.62355	0.194380720479	0.21778	0.248048335314	0.03565	T	0.119236	0.44062	T	-0.389919	0.02694	T	-0.400344	0.33344	T	0.0386358872056007	0.03444	T	0.80472	0.45238	T	0.07583913	0.17113	0.14301969	0.34005	0.07583913	0.17112	0.14301969	0.34004	-8.951	0.67381	D	.	.	0.235	0.46825	B	.	.	2.445339	0.31476	18.75	0.98550227747727059	0.42833	0.87704	0.47333	D	AEFBI	0.356870	0.44810	N	-0.0748548186322868	0.38498	2.255715	0.0599880693048118	0.42555	2.576128	0.0319895884635855	0.14031	0.549168	0.22868	0	0.588066	0.40923	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.83	3.59	0.40253	2.058000	0.41001	0.136000	0.15109	-0.171000	0.11205	1.000000	0.71638	0.964000	0.29435	0.985000	0.61073	0.0:0.7953:0.0:0.2047	10.585	0.44467	905	0.23532	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.025253	0.005435	0.002924	0.000000	0.017241	0.000000	0.000000	0.05	2707.43	52	chr6	89265642	.	C	T	2707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.866;DP=581;ExcessHet=0;FS=0.529;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.318;SOR=0.637	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	9	0	1	0
chr6	89706175	89706175	T	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon53:c.A8032G:p.T2678A	.	.	.	.	.	.	.	.	.	.	.	3210336	MDN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.067	.	0.0048	0.00139776	0.0036	0.0006	0.0007	0	0.0144	0.0042	0.0022	0.0023	0.0034411	532	154602	rs41273331	0.0054	0.0054	0.0056	0.0052	0.0060	0.0053	0.0052	0.0059	0.0058	0.0010	0.0010	0.0020	0	0.0105	0.0003	0.0060	0.0047	0.0020	0.0037	0.0037	0.0034	0.0040	0.0047	0.0034	0.0033	0.0043	0.0041	0.0010	0	0.0010	0.0012	0	0.0160	0	0.0047	0.0019	0.0012	0.248	0.17239	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	0.080690	0.20910	N	0.557669	0.999984	0.18198	N	0	0.06538	N	4.14	0.02839	T	-0.42	0.14193	N	0.191	0.20925	-0.8888	0.49038	T	0.002	0.00646	T	10	0.006221324	0.00140	T	.	.	.	0.067	0.19503	.	.	0.043077524339	0.03247	0.11426542010895477	0.11354	0.147516946697	0.16644	0.292011141777	0.09214	T	0.004837	0.04259	T	-0.630366	0.00095	T	-0.673828	0.07365	T	0.0133686379967126	0.00241	T	0.686231	0.29475	T	0.03280992	0.03377	0.043295115	0.05352	0.03280992	0.03377	0.043295115	0.05352	-3.385	0.14855	T	.	.	0.065	0.01834	B	.;.	.;.	2.665753	0.34737	19.71	0.82262593687027052	0.14102	0.61692	0.31559	D	AEFBI	0.067759	0.13336	N	-0.404678982002271	0.25305	1.372672	-0.184739456260655	0.32096	1.822723	0.462934812816264	0.20639	0.732398	0.92422	0	0.615513	0.52658	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	2.211000	0.42465	6.094000	0.53477	0.609000	0.47794	0.704000	0.28664	1.000000	0.68203	0.836000	0.39433	0.1914:0.0:0.0:0.8086	9.800	0.39925	802	0.44336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	746.43	40	chr6	89706175	.	T	C	746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.839;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.288;SOR=0.618	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1373	9	0	1	0
chr6	93356876	93356876	T	C	exonic	EPHA7	.	nonsynonymous SNV	EPHA7:NM_001288629:exon5:c.A1165G:p.M389V,EPHA7:NM_001376465:exon5:c.A1165G:p.M389V,EPHA7:NM_001376466:exon5:c.A1165G:p.M389V,EPHA7:NM_001376467:exon5:c.A1165G:p.M389V,EPHA7:NM_001376468:exon5:c.A1165G:p.M389V,EPHA7:NM_001376469:exon5:c.A1165G:p.M389V,EPHA7:NM_001376470:exon5:c.A937G:p.M313V,EPHA7:NM_001376471:exon5:c.A937G:p.M313V,EPHA7:NM_004440:exon5:c.A1165G:p.M389V	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00730539776015	.	.	1.649e-05	0	8.685e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs752702243	5.472e-06	5.472e-06	1.361e-06	9.626e-06	0.0002	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	4.473e-05	0	0	1.872e-05	0.0002	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.3	0.20357	T	0.0	0.02946	B	0.0	0.01387	B	0.000033	0.55875	D	0.194863	0.593492	0.32476	D	-1.865	0.00258	N	0.48	0.55945	T	0.87	0.01688	N	0.21	0.23380	-0.8924	0.48722	T	0.012	0.04416	T	10	0.08525619	0.14374	T	0.007305	0.19361	T	0.119	0.33137	0.269	0.21735	0.243187853663	0.23924	0.4623793929358945	0.46155	0.391208237325	0.40319	0.518307805061	0.41387	T	0.024712	0.18622	T	-0.229986	0.16651	T	-0.471282	0.25378	T	0.0411386672697956	0.03898	T	0.674733	0.28305	T	0.08162094	0.18763	0.09747051	0.23201	0.08162094	0.18762	0.09747051	0.23201	-2.274	0.04415	T	.	.	0.055	0.00397	B	.	.	1.763247	0.22429	15.62	0.5695947664777552	0.05665	0.86187	0.45420	D	AEFDI	0.549791	0.56253	D	-0.651261099836443	0.17424	0.8964561	-0.334509211720851	0.26992	1.494723	5.9615669124468E-5	0.04171	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.85	3.24	0.36257	1.530000	0.35613	4.961000	0.46342	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2316:0.0698:0.0:0.6985	5.973	0.18600	946	0.12043	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1993.43	33	chr6	93356876	.	T	C	1993.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.083;DP=479;ExcessHet=0;FS=2.683;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.527;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	9	0	1	0
chr6	93410600	93410600	C	T	exonic	EPHA7	.	nonsynonymous SNV	EPHA7:NM_001288629:exon3:c.G733A:p.A245T,EPHA7:NM_001288630:exon3:c.G733A:p.A245T,EPHA7:NM_001376465:exon3:c.G733A:p.A245T,EPHA7:NM_001376466:exon3:c.G733A:p.A245T,EPHA7:NM_001376467:exon3:c.G733A:p.A245T,EPHA7:NM_001376468:exon3:c.G733A:p.A245T,EPHA7:NM_001376469:exon3:c.G733A:p.A245T,EPHA7:NM_001376470:exon3:c.G505A:p.A169T,EPHA7:NM_001376471:exon3:c.G505A:p.A169T,EPHA7:NM_004440:exon3:c.G733A:p.A245T	.	421	1081	20	0	0	20	0.0091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0116223800209	0.0009	0.00119808	0.0016	0.0008	0.0014	0	0	0.0017	0	0.0033	0.0014683	227	154602	rs41273629	0.0011	0.0011	0.0011	0.0012	0.0068	0.0011	0.0011	0.0051	0.0045	0.0002	0.0013	0.0022	0.0001	0	0.0068	0.0010	0.0016	0.0034	0.0011	0.0011	0.0011	0.0011	0.0023	0.0010	0.0009	0.0013	0.0012	0.0003	0	0.0018	0.0026	0.0004	0	0	0.0016	0.0014	0.0023	0.538	0.08787	T	1.0	0.07244	T	0.003	0.17573	B	0.002	0.19346	B	0.000000	0.84330	D	0.053473	0.924721	0.27208	N	0.36	0.11994	N	-0.59	0.71543	T	0.65	0.03521	N	0.128	0.12198	-1.0578	0.12311	T	0.073	0.29483	T	10	0.0044355392	0.00091	T	0.011622	0.29427	T	0.043	0.11576	.	.	0.204265027416	0.20035	0.4742936788225149	0.47348	0.382226825231	0.39557	0.694450557232	0.66345	T	0.028586	0.20673	T	-0.490374	0.00647	T	-0.479901	0.24457	T	0.00553933447773177	0.00060	T	0.427757	0.27667	T	0.14621846	0.33482	0.17927508	0.40650	0.14621846	0.33482	0.17927508	0.40650	-4.173	0.29638	T	.	.	0.066	0.02228	B	.;.	.;.	3.397506	0.47066	22.4	0.92953703828481027	0.22526	0.87652	0.47263	D	AEFBI	0.123608	0.23929	N	-0.42491439724956	0.24598	1.32935	-0.190630508207039	0.31880	1.808361	0.0229919285950948	0.13474	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.530356	0.10902	0	.	.	5.46	4.3	0.50540	3.356000	0.51987	5.395000	0.48494	-0.045000	0.17359	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.865:0.135:0.0:0.0	13.048	0.58346	944	0.12746	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.000000	0.05	1691.43	33	chr6	93410600	.	C	T	1691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=577;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.334;SOR=0.899	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr6	99380330	99380330	G	A	exonic	COQ3	.	nonsynonymous SNV	COQ3:NM_017421:exon3:c.C245T:p.A82V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0100	0.0107827	0.0031	0.0314	0.0021	0	0	0.0002	0	0.0004	0.0028654	443	154602	rs111455620	0.0010	0.0011	0.0012	0.0009	0.0334	0.0010	0.0010	0.0317	0.0311	0.0334	0.0028	0.0015	0	0	0.0014	5.037e-05	0.0026	0.0003	0.0098	0.0098	0.0101	0.0094	0.0328	0.0093	0.0092	0.0314	0.0308	0.0328	0	0.0066	0.0006	0	0	0	7.351e-05	0.0066	0.0002	0.48	0.08237	T	0.433	0.13595	T	0.001	0.07471	B	0.001	0.04355	B	0.338147	0.14005	N	0.710705	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	0.27	0.04306	N	0.051	0.02272	-0.9427	0.42185	T	0.005	0.01688	T	10	0.003418833	0.00060	T	.	.	.	0.009	0.00846	.	.	0.0846915920261	0.08053	0.3234851800120706	0.32261	0.0570085514452	0.06303	0.204086884856	0.00585	T	0.020839	0.16335	T	-0.767149	0.00014	T	-0.849666	0.00964	T	0.000273412092301188	0.00002	T	0.30107	0.05662	T	0.022116918	0.00853	0.02739742	0.00889	0.022116918	0.00853	0.02739742	0.00889	-2.972	0.09882	T	.	.	0.079	0.07177	B	.	.	0.260852	0.06395	2.860	0.78476678722029514	0.12317	0.03836	0.09183	N	AEFI	0.069582	0.13779	N	-1.41066776971381	0.02544	0.1124849	-1.39006867755282	0.03357	0.1564246	2.45092161958199E-4	0.06141	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.59	-1.89	0.07271	-0.753000	0.04897	0.439000	0.18405	-0.182000	0.10109	0.000000	0.06391	0.005000	0.19230	0.021000	0.11733	0.2532:0.1109:0.3372:0.2988	0.901	0.01192	571	0.70397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.010101	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.1	1451.14	33	chr6	99380330	.	G	A	1451.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.543;DP=361;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=0.637;SOR=0.781	GT:AD:DP:GQ:PL	0/1:13,24:37:99:626,0,262	8	0	2	0
chr6	100642628	100642628	A	G	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_006828:exon24:c.T3854C:p.I1285T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.102775253163	0.0018	0.000798722	0.0004	0.0045	0.0002	0	0	5.994e-05	0	0	0.0003946	61	154602	rs149055216	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0030	0.0028	0.0036	0.0004	0	0	0	0	1.349e-05	0.0004	0	0.0012	0.0012	0.0014	0.0010	0.0043	0.0011	0.0010	0.0038	0.0036	0.0043	0	0.0006	0	0	0	0	0	0.0009	0	0.004	0.65419	D	0.005	0.72224	D	0.998	0.73220	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.725	0.79712	M	-0.03	0.63077	T	-3.78	0.71519	D	0.944	0.95139	-0.0770	0.80620	T	0.398	0.74988	T	10	0.07797846	0.12373	T	0.102775	0.77644	D	0.724	0.90280	.	.	0.753514998094	0.75128	0.8172165775823037	0.81678	0.995167280949	0.74201	0.918202996254	0.98183	D	0.18877	0.54278	T	0.0281029	0.55469	T	0.267447	0.86446	D	0.0697010767440334	0.08609	T	0.990401	0.97014	D	0.63222957	0.74417	0.5222677	0.72399	0.63222957	0.74418	0.5222677	0.72400	-9.992	0.73864	D	.	.	0.949	0.86751	P	.	.	4.499637	0.70358	25.5	0.99878349263811939	0.95491	0.99163	0.92158	D	AEFGBI	0.881562	0.80903	D	0.830455776640382	0.87968	9.40561	0.781440056696169	0.88475	9.595799	0.999987507556938	0.51787	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	9.321000	0.95528	11.251000	0.90746	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.969	0.70868	906	0.23090	Sec63 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	3268.14	34	chr6	100642628	.	A	G	3268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.21;DP=554;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.123;SOR=0.709	GT:AD:DP:GQ:PL	0/1:58,78:136:99:1759,0,1231	8	0	2	0
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G,CRYBG1:NM_001371242:exon4:c.A2600G:p.E867G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	205.43	37	chr6	106519808	.	A	G	205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.628;DP=660;ExcessHet=0;FS=229.984;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=0.89;SOR=8.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1142	9	0	1	0
chr6	106521329	106521329	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A2897G:p.E966G,CRYBG1:NM_001371242:exon4:c.A4121G:p.E1374G	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	.	7.7e-05	0.00479233	0.0036	0.0003	0.0003	0	0	4.501e-05	0.0022	0.0255	0.0030207	467	154602	rs201797268	0.0014	0.0014	0.0008	0.0021	0.0229	0.0014	0.0014	0.0220	0.0217	0.0002	6.711e-05	0	5.038e-05	0	0.0017	2.608e-05	0.0015	0.0229	0.0008	0.0008	0.0004	0.0012	0.0232	0.0007	0.0006	0.0197	0.0184	0.0002	0	0	0	0	0	0	4.411e-05	0	0.0232	0.034	0.44029	D	0.045	0.49390	D	0.998	0.73220	D	0.878	0.62312	P	0.501860	0.05096	N	1.239110	0.659091	0.30465	N	.	.	.	-0.8	0.73845	T	-1.62	0.38924	N	0.225	0.25253	-0.4352	0.70890	T	0.494	0.80830	T	10	0.0041195154	0.00081	T	.	.	.	0.323	0.64522	.	.	0.876007074002	0.87480	0.38657576976020197	0.38572	0.101216265927	0.11446	0.394491821527	0.24300	T	0.017161	0.14051	T	-0.253455	0.13678	T	-0.118593	0.61918	T	0.020368446620459	0.00737	T	0.570043	0.20293	T	0.07832549	0.17829	0.07597949	0.16782	0.07832549	0.17828	0.07597949	0.16782	-3.917	0.22557	T	.	.	0.097	0.15609	B	.;.	.;.	2.192876	0.27962	17.64	0.99762023113990628	0.85172	0.44345	0.27298	N	ALL	0.103433	0.20723	N	0.317689826139538	0.57057	3.871678	0.205870227503103	0.50173	3.212148	0.999999999999261	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.9	5.9	0.94952	1.726000	0.37706	4.663000	0.44246	-0.041000	0.17446	0.772000	0.29380	0.999000	0.35428	0.187000	0.21511	1.0:0.0:0.0:0.0	12.707	0.56435	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1740.43	37	chr6	106521329	.	A	G	1740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.405;DP=519;ExcessHet=0;FS=2.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.55;SOR=0.827	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr6	106552204	106552204	G	C	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon13:c.G4236C:p.R1412S,CRYBG1:NM_001371242:exon15:c.G5460C:p.R1820S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0146556277939	.	.	9.861e-05	0	0	0	0	1.852e-05	0	0.0006	6.47e-05	10	154602	rs768985297	3.512e-05	3.559e-05	1.819e-05	5.219e-05	0.0006	2.701e-05	2.438e-05	0.0005	0.0004	0	0	0	0	0	0.0004	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.102	0.38450	T	0.259	0.31472	B	0.053	0.25678	B	0.247217	0.15586	N	0.700738	0.862062	0.35406	D	.	.	.	-0.56	0.72889	T	-2.32	0.64246	N	0.318	0.38541	-1.0744	0.08472	T	0.069	0.28280	T	10	0.06874469	0.09766	T	0.014656	0.34921	T	0.166	0.42578	0.358	0.36060	0.516884031612	0.51331	0.49623780846876203	0.49544	0.0972937747423	0.10992	0.407148391008	0.26063	T	0.014665	0.18504	T	-0.248996	0.14221	T	-0.24827	0.49986	T	0.0736326823794987	0.09152	T	0.787921	0.42712	T	0.16072899	0.36033	0.09640647	0.22904	0.16072899	0.36033	0.09640647	0.22903	-6.567	0.50800	T	.	.	0.239	0.49038	B	.;.;.	.;.;.	3.016522	0.40355	21.2	0.48572518399038517	0.04065	0.91355	0.53366	D	AEFBI	0.285050	0.39777	N	-0.445077739965204	0.23907	1.287173	-0.268774438722516	0.29132	1.629792	0.995018460045077	0.33909	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	2.76	0.31527	2.818000	0.47741	1.933000	0.29783	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1595:0.2979:0.4023:0.1403	2.415	0.04164	748	0.52143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	434.43	47	chr6	106552204	.	G	C	434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=337;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-1.191;SOR=0.648	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,900	9	0	1	0
chr6	107634459	107634459	A	G	exonic	SOBP	.	nonsynonymous SNV	SOBP:NM_018013:exon6:c.A1615G:p.I539V	Mental retardation, anterior maxillary protrusion, and strabismus, Autosomal recessive	6	1455	54	7	0	68	0.0228341	.	.	.	135807	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0037	0.0105831	0.0073	0.0074	0.0063	0.0092	0.0011	0.0042	0.0143	0.0208	0.0063389	980	154602	rs146747167	0.0044	0.0044	0.0039	0.0050	0.0276	0.0043	0.0043	0.0241	0.0227	0.0065	0.0066	0.0144	0.0147	0.0007	0.0276	0.0023	0.0071	0.0205	0.0061	0.0061	0.0059	0.0062	0.0203	0.0058	0.0056	0.0170	0.0158	0.0073	0	0.0115	0.0174	0.0095	0.0002	0.0171	0.0032	0.0086	0.0203	0.01	0.56456	D	0.162	0.31225	T	0.978	0.58756	D	0.968	0.71741	D	0.000055	0.53742	D	0.071526	0.99999	0.58761	D	1.52	0.38360	L	1.03	0.40469	T	-0.55	0.16799	N	0.505	0.53708	-1.0149	0.25368	T	0.102	0.37568	T	10	0.008447349	0.00191	T	.	.	.	0.142	0.37995	.	.	0.115124310173	0.11017	0.5404988772062471	0.53974	.	.	0.703159928322	0.67601	T	0.117586	0.43778	T	-0.388018	0.02770	T	-0.315201	0.43099	T	0.0261456943927532	0.01425	T	0.887811	0.61653	D	0.14428282	0.33124	0.14668486	0.34743	0.14428282	0.33124	0.14668486	0.34742	-7.12	0.54904	T	.	.	0.179	0.38994	B	.	.	3.774690	0.54236	23.5	0.99785662079997073	0.87219	0.97112	0.72760	D	AEFDBI	0.851424	0.76828	D	0.436393661146034	0.63436	4.577202	0.427861838613394	0.63305	4.561854	0.999999999992883	0.74766	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.1	4.1	0.47196	6.628000	0.74125	10.844000	0.83917	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.662000	0.33024	1.0:0.0:0.0:0.0	13.279	0.59638	731	0.54177	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.019134	0.030303	0.023098	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	786.43	33	chr6	107634459	.	A	G	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.191;DP=409;ExcessHet=0;FS=4.393;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.16;SOR=0.744	GT:AD:DP:GQ:PL	0/1:42,36:78:99:798,0,960	9	0	1	0
chr6	107909011	107909011	G	A	exonic	SEC63	.	nonsynonymous SNV	SEC63:NM_007214:exon8:c.C649T:p.R217C	Polycystic liver disease 2, Autosomal dominant	11	1510	1	0	0	1	0.000331016	.	.	.	2904835	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.817	0.224354725182	.	.	5.029e-05	0	8.835e-05	0	0	4.572e-05	0	0.0001	5.17e-05	8	154602	rs565194589	3.699e-05	3.762e-05	2.181e-05	5.231e-05	0.0002	2.897e-05	2.595e-05	9.795e-05	7.842e-05	0	4.475e-05	0	2.521e-05	0	0	3.152e-05	3.316e-05	0.0002	4.614e-05	4.6e-05	2.575e-05	6.753e-05	8.832e-05	2.115e-05	1.531e-05	3.766e-05	2.578e-05	0	0	0	0	0	9.471e-05	0	8.832e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.97	0.72226	D	0.000003	0.62929	D	0.061273	1	0.81001	D	2.375	0.68372	M	-1.04	0.76561	T	-6.19	0.91311	D	0.955	0.96416	0.193	0.85786	D	0.559	0.83915	D	10	0.8794205	0.87246	D	0.224355	0.87946	D	0.817	0.94123	0.618	0.75232	0.91364387659	0.91277	0.860820767975889	0.86046	1.16178190297	0.79509	0.876591444016	0.93498	D	0.35793	0.72456	T	0.237582	0.77431	D	0.340162	0.89925	D	0.890066504478455	0.54084	D	0.986301	0.96221	D	0.72060984	0.79195	0.5377637	0.73288	0.7173761	0.79017	0.53171307	0.72941	-9.806	0.72742	D	.	.	0.664	0.71493	P	.;.	.;.	6.078565	0.94508	34	0.99926420297468665	0.99103	0.98099	0.79589	D	AEFBI	0.930534	0.91799	D	0.761786727214941	0.83669	8.078658	0.741968909211323	0.85556	8.615865	0.998907995045685	0.37938	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	7.662000	0.82787	9.969000	0.82849	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.546	0.90999	757	0.50970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	632.43	35	chr6	107909011	.	G	A	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=391;ExcessHet=0;FS=0.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.35;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	9	0	1	0
chr6	109516604	109516604	T	G	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon30:c.A3672C:p.E1224D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0133684380576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.246	0.23984	T	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.345	0.33447	L	-0.21	0.66294	T	-0.77	0.21429	N	0.121	0.11197	-0.9077	0.47133	T	0.030	0.12892	T	8	0.02665013	0.00826	T	0.013368	0.32721	T	0.180	0.45073	0.147	0.05039	0.0611884634855	0.05136	0.1244099215015231	0.12366	0.117407629759	0.13229	0.359618991613	0.19329	T	0.003997	0.03403	T	-0.216949	0.18411	T	-0.549408	0.17383	T	0.0965520450902912	0.11973	T	0.339966	0.07337	T	0.046675973	0.07851	0.060436226	0.11511	0.046675973	0.07850	0.060436226	0.11510	-4.107	0.25394	T	.	.	0.074	0.05017	B	.	.	-1.279427	0.00456	0.009	0.18616677907853912	0.00593	0.03715	0.09002	N	AEFGBI	0.150392	0.27468	N	-1.79181531339549	0.00565	0.02435351	-2.02354459663737	0.00273	0.01204969	0.99999999869769	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.64	-9.29	0.00554	-3.114000	0.00659	-5.434000	0.01720	-1.913000	0.00513	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2487:0.1704:0.2461:0.3349	0.328	0.00293	697	0.58201	AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	625.43	33	chr6	109516604	.	T	G	625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.499;DP=353;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.8;SOR=0.804	GT:AD:DP:GQ:PL	0/1:26,25:51:99:637,0,679	9	0	1	0
chr6	110393281	110393281	G	A	exonic	DDO	.	nonsynonymous SNV	DDO:NM_001368171:exon4:c.C181T:p.P61S,DDO:NM_001368173:exon4:c.C343T:p.P115S,DDO:NM_004032:exon4:c.C343T:p.P115S,DDO:NM_001368172:exon5:c.C520T:p.P174S,DDO:NM_001368174:exon5:c.C166T:p.P56S,DDO:NM_001368175:exon5:c.C166T:p.P56S,DDO:NM_001372108:exon5:c.C520T:p.P174S,DDO:NM_001368170:exon6:c.C358T:p.P120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00580773282757	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs749465890	1.369e-06	1.368e-06	1.361e-06	1.376e-06	2.521e-05	2.3e-07	9e-08	.	.	0	0	0	2.521e-05	0	0	0	0	1.159e-05	1.314e-05	1.314e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0	0.0002	0.695	0.06106	T	0.794	0.04155	T	0.024	0.32716	B	0.02	0.21540	B	0.053429	0.22809	N	0.501675	1	0.08975	N	.	.	.	1.01	0.41058	T	-0.67	0.19297	N	0.089	0.10198	-1.0534	0.13466	T	0.020	0.08453	T	10	0.051725358	0.05099	T	0.005808	0.15101	T	0.065	0.18881	0.323	0.30387	0.322786055943	0.31880	0.5481034490024028	0.54736	0.0417887643183	0.04490	0.254505872726	0.04257	T	.	.	.	-0.374724	0.03362	T	-0.55034	0.17294	T	0.103180615949623	0.12703	T	0.820918	0.48005	T	.	.	.	.	.	.	.	.	-2.162	0.03860	T	.	.	0.098	0.16143	B	.;.	.;.	0.933832	0.13095	9.595	0.16824774836651707	0.00466	0.21102	0.21282	N	AEFBI	0.248914	0.36923	N	-0.706300473933109	0.15845	0.8021195	-0.628528936954826	0.18762	1.003677	0.344924687628058	0.19622	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.95	5.06	0.67838	0.678000	0.24956	3.623000	0.39291	0.676000	0.76740	0.000000	0.06391	0.999000	0.35428	0.528000	0.29660	0.0:0.3375:0.5299:0.1327	8.98	0.35121	578	0.69858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1010.43	34	chr6	110393281	.	G	A	1010.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=404;ExcessHet=0;FS=0.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.498;SOR=0.81	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1287	9	0	1	0
chr6	110456862	110456862	C	T	exonic	SLC22A16	.	nonsynonymous SNV	SLC22A16:NM_033125:exon2:c.G209A:p.S70N	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00876804708803	0.0005	0.000798722	0.0009	9.617e-05	0.0004	0	0	0.0006	0.0044	0.0037	0.0007956	123	154602	rs145653089	0.0006	0.0006	0.0005	0.0007	0.0069	0.0006	0.0005	0.0052	0.0046	8.961e-05	0.0001	0	0	0	0.0069	0.0004	0.0008	0.0038	0.0005	0.0005	0.0003	0.0006	0.0035	0.0004	0.0003	0.0022	0.0018	2.406e-05	0	0.0002	0	0	0	0.0034	0.0007	0.0009	0.0035	0.072	0.39575	T	0.077	0.42436	T	0.454	0.36182	P	0.071	0.27960	B	0.001541	0.00798	N	5.930950	1	0.08975	N	0.605	0.15622	N	1.17	0.65192	T	-0.17	0.10833	N	0.078	0.05287	-1.0711	0.09173	T	0.062	0.25923	T	10	0.006997794	0.00159	T	0.008768	0.23147	T	0.044	0.11924	.	.	0.115124310173	0.11017	0.4664323185467218	0.46562	0.015149267968	0.01440	0.209350436926	0.00784	T	0.018852	0.15125	T	-0.607257	0.00132	T	-0.647481	0.09132	T	0.0200073487743766	0.00701	T	0.327067	0.07184	T	0.047845952	0.08244	0.06910523	0.14518	0.047845952	0.08244	0.06910523	0.14517	-6.36	0.49196	T	.	.	0.083	0.09191	B	.;.;.	.;.;.	-0.136266	0.03432	0.628	0.90622664412279952	0.19876	0.09044	0.14877	N	AEFDGBIJ	0.101387	0.20365	N	-0.968869463499155	0.09273	0.4382266	-1.1222374894137	0.07277	0.3533342	0.979797763919298	0.30066	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.91	-5.05	0.02733	-0.041000	0.12036	-1.420000	0.05482	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2061:0.3793:0.0:0.4146	5.523	0.16230	493	0.76500	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.007576	0.1	4238.14	137	chr6	110456862	.	C	T	4238.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.61;DP=965;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.095;SOR=0.707	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1218	8	0	2	0
chr6	111580262	111580262	G	T	exonic	TRAF3IP2	.	nonsynonymous SNV	TRAF3IP2:NM_001164281:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147686:exon3:c.C957A:p.S319R,TRAF3IP2:NM_147200:exon4:c.C984A:p.S328R	.	424	1080	16	2	0	20	0.00917431	.	.	.	521681	Candidiasis,_familial,_8|TRAF3IP2-related_disorder	MONDO:MONDO:0014230,MedGen:C3714992,OMIM:615527,Orphanet:1334|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0105387821715	0.0011	0.000599042	0.0018	0	0.0006	0	0.0002	0.0022	0.0033	0.0038	0.0016171	250	154602	rs146226365	0.0013	0.0013	0.0012	0.0014	0.0087	0.0013	0.0012	0.0068	0.0061	5.982e-05	0.0004	0.0169	0	0.0002	0.0087	0.0008	0.0023	0.0041	0.0012	0.0012	0.0012	0.0012	0.0052	0.0010	0.0010	0.0036	0.0031	9.62e-05	0	0.0005	0.0161	0	0	0	0.0011	0.0043	0.0052	0.01	0.56456	D	0.044	0.50226	D	0.937	0.52445	P	0.529	0.48508	P	0.000322	0.45700	D	0.156174	1	0.81001	D	2.395	0.69210	M	1.2	0.37746	T	-1.28	0.32185	N	0.266	0.30687	-1.1119	0.02912	T	0.058	0.24317	T	10	0.007829368	0.00178	T	0.010539	0.27195	T	0.112	0.31546	0.369	0.37850	0.562580035486	0.55921	0.383433040672227	0.38258	0.248281453922	0.27391	0.36838644743	0.20599	T	0.144915	0.48178	T	-0.374221	0.03386	T	-0.312109	0.43432	T	0.0511625810549959	0.05703	T	0.618838	0.23746	T	0.06632413	0.14260	0.0971476	0.23110	0.09406443	0.22106	0.09396534	0.22219	-3.425	0.16487	T	0.2385391721129201	0.32307	0.247	0.53747	B	.;.;.;.	.;.;.;.	2.820424	0.37150	20.4	0.99794009709139653	0.87928	0.76255	0.37385	D	AEFDBI	0.194552	0.32162	N	0.138979454985184	0.48291	3.043194	0.135237814780427	0.46365	2.883631	0.999994259232576	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.99	1.77	0.23848	0.252000	0.18046	0.085000	0.14440	0.676000	0.76740	0.994000	0.38300	0.071000	0.22219	0.991000	0.66497	0.3261:0.0:0.6739:0.0	9.803	0.39945	386	0.83455	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.009146	0.003788	0.1	2910.14	92	chr6	111580262	.	G	T	2910.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.94;DP=904;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.47;SOR=0.662	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	8	0	2	0
chr6	112117868	112117868	G	A	exonic	LAMA4	.	nonsynonymous SNV	LAMA4:NM_001105206:exon35:c.C4852T:p.L1618F,LAMA4:NM_001105207:exon35:c.C4831T:p.L1611F,LAMA4:NM_002290:exon35:c.C4831T:p.L1611F	Cardiomyopathy, dilated, 1JJ, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	.	53565	Cardiomyopathy|not_provided|Cardiovascular_phenotype|Dilated_cardiomyopathy_1JJ|not_specified|LAMA4-related_disorder	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0014095,MedGen:C3808935,OMIM:615235,Orphanet:154|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.366	0.0183851972643	.	.	0.0004	0	8.717e-05	0	0	9.232e-05	0	0.0024	1.29e-05	2	154602	rs397516733	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.99e-05	0.0001	0	2.52e-05	3.76e-05	0.0010	0.0001	0.0002	0.0027	0.0003	0.0003	0.0002	0.0004	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0010	0	0	0	0	0.0002	0.0009	0.0025	0.009	0.57480	D	0.013	0.63109	D	.	.	.	.	.	.	0.000013	0.62929	D	0.067780	0.997972	0.44375	D	.	.	.	1.81	0.25182	T	-3.03	0.62747	D	0.692	0.70878	-0.7620	0.57296	T	0.172	0.51437	T	10	0.12829733	0.24405	T	0.018385	0.40438	T	0.366	0.68582	.	.	0.366277470483	0.36239	0.543173225870056	0.54243	0.594377940078	0.54754	0.558607041836	0.47071	T	0.118871	0.43999	T	-0.0944471	0.37342	T	0.0860089	0.75979	D	0.244352835201633	0.22618	T	0.912309	0.68816	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.63618	A	.;.;.;.	.;.;.;.	4.862109	0.79572	27.1	0.99888721587977247	0.96359	0.73617	0.36009	D	AEFDGBHCI	0.506313	0.53709	D	0.697377018552583	0.79459	7.082341	0.620098135179645	0.76401	6.484184	0.999999999988565	0.74766	0.645754	0.44609	0	0.59043	0.45803	0	0.547309	0.15389	0	0.723	0.93126	0	.	.	5.6	5.6	0.84997	3.257000	0.51201	11.892000	0.99120	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.0:0.0:1.0:0.0	19.609	0.95588	730	0.54327	Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	900.43	37	chr6	112117868	.	G	A	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.7;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.34;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	9	0	1	0
chr6	116512096	116512096	A	C	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon1:c.A400C:p.S134R	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0042	0.00259585	0.0012	0.0131	0.0009	0	0	0	0	6.058e-05	0.0011061	171	154602	rs34972589	0.0004	0.0004	0.0004	0.0003	0.0127	0.0003	0.0003	0.0117	0.0113	0.0127	0.0008	0	0	0	0.0007	8.094e-06	0.0008	2.319e-05	0.0039	0.0039	0.0041	0.0037	0.0138	0.0036	0.0035	0.0129	0.0125	0.0138	0	0.0009	0	0	0	0	0	0.0024	0	0.062	0.36912	T	0.197	0.27855	T	0.027	0.19556	B	0.021	0.19346	B	0.014625	0.28476	N	0.456198	0.999073	0.21650	N	.	.	.	2.25	0.17761	T	-1.71	0.40660	N	0.277	0.31365	-1.0130	0.25975	T	0.015	0.06234	T	10	0.003171146	0.00053	T	.	.	.	0.061	0.17616	0.322	0.30226	0.0138822411134	0.00435	0.48233665150081	0.48153	0.169001279042	0.19054	0.376813769341	0.21804	T	0.015314	0.12869	T	-0.594244	0.00158	T	-0.615336	0.11556	T	0.033541313932026	0.02561	T	0.642236	0.25428	T	0.1617566	0.36207	0.31308305	0.57307	0.1617566	0.36206	0.31308305	0.57306	-4.87	0.35396	T	.	.	0.264	0.49874	B	.	.	2.860830	0.37796	20.6	0.94872741668348037	0.25695	0.42301	0.26847	N	AEFDGBCIJ	0.340054	0.43700	N	-0.449106823245344	0.23770	1.278845	-0.402911151035551	0.24911	1.366868	0.999999410600789	0.74766	0.441713	0.08003	0	0.607795	0.50457	0	0.232529	0.04895	2	0.56214	0.19341	0	.	.	5.34	4.18	0.48473	2.678000	0.46566	8.016000	0.76210	0.756000	0.94297	0.754000	0.29177	1.000000	0.68203	0.019000	0.11356	0.8402:0.0:0.1598:0.0	7.598	0.27228	531	0.73574	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1442.43	34	chr6	116512096	.	A	C	1442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.201;DP=410;ExcessHet=0;FS=5.122;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-1.611;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	9	0	1	0
chr6	116515952	116515952	C	T	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon2:c.C893T:p.T298M	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0043	0.00299521	0.0013	0.0135	0.0009	0.0002	0	3.027e-05	0.0011	0.0001	0.0012031	186	154602	rs35398770	0.0004	0.0004	0.0004	0.0004	0.0129	0.0004	0.0004	0.0119	0.0115	0.0129	0.0008	0	0.0001	1.873e-05	0.0007	5.05e-05	0.0009	8.137e-05	0.0039	0.0040	0.0042	0.0037	0.0139	0.0037	0.0036	0.0129	0.0126	0.0139	0	0.0009	0	0.0002	0	0.0034	4.412e-05	0.0024	0.0002	0.309	0.14064	T	0.389	0.15554	T	0.777	0.44168	P	0.07	0.27859	B	0.820749	0.09180	N	0.925063	1	0.81001	D	.	.	.	2.23	0.18083	T	0.52	0.02853	N	0.159	0.16586	-0.9723	0.36712	T	0.012	0.04653	T	10	0.0029054582	0.00047	T	.	.	.	0.059	0.16972	.	.	0.0297737177859	0.01360	0.558403370289924	0.55767	0.117277265596	0.13215	0.448176860809	0.31695	T	0.001568	0.01004	T	-0.644986	0.00078	T	-0.688223	0.06492	T	0.0161963464800794	0.00394	T	0.748625	0.36937	T	0.009681132	0.00003	0.02746822	0.00901	0.009681132	0.00003	0.02746822	0.00901	-4.541	0.31421	T	.	.	0.095	0.14979	B	.	.	2.602022	0.33775	19.44	0.93746294227023785	0.23684	0.90738	0.52168	D	AEFDGBI	0.150446	0.27474	N	-0.0960371825880188	0.37565	2.187392	-0.0434794232461534	0.37775	2.216274	0.999353527073074	0.39259	0.706548	0.73137	0	0.563428	0.19063	0	0.467745	0.07146	0	0.714379	0.83352	0	.	.	6.03	4.2	0.48814	2.347000	0.43692	3.310000	0.37456	0.599000	0.40250	0.973000	0.34540	0.998000	0.33993	0.018000	0.11154	0.0:0.832:0.0:0.168	9.320	0.37119	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1309.43	33	chr6	116515952	.	C	T	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=430;ExcessHet=0;FS=0.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.206;SOR=0.865	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr6	116616930	116616930	G	T	exonic	RSPH4A	.	nonsynonymous SNV	RSPH4A:NM_001010892:exon1:c.G307T:p.D103Y,RSPH4A:NM_001161664:exon1:c.G307T:p.D103Y	Ciliary dyskinesia, primary, 11	3	1517	2	0	0	2	0.000658762	.	.	.	686789	Primary_ciliary_dyskinesia|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.122	0.0172361108497	0.0008	0.000599042	0.0002	0.0027	8.64e-05	0	0	0	0	0	0.000207	32	154602	rs139745647	6.43e-05	6.43e-05	7.078e-05	5.775e-05	0.0023	5.361e-05	4.976e-05	0.0019	0.0018	0.0023	8.944e-05	0	0	0	0.0003	8.993e-07	0.0001	0	0.0006	0.0006	0.0008	0.0004	0.0023	0.0005	0.0005	0.0019	0.0018	0.0023	0	0	0	0	0	0	0	0.0009	0	0.003	0.72154	D	0.009	0.70582	D	0.997	0.70673	D	0.875	0.62107	P	0.334923	0.04153	N	1.497030	1	0.08975	N	1.525	0.38595	L	-0.48	0.70249	T	-2.25	0.50992	N	0.292	0.41459	-0.8567	0.51498	T	0.236	0.60270	T	10	0.007859677	0.00178	T	0.017236	0.38857	T	0.122	0.33800	.	.	0.497871611283	0.49422	0.40138530547445717	0.40053	0.432958136732	0.43468	0.369365483522	0.20742	T	0.011831	0.10494	T	-0.318898	0.06988	T	-0.237328	0.51059	T	0.107166061277331	0.13127	T	0.763824	0.40231	T	0.10768593	0.25463	0.195532	0.43235	0.10768593	0.25463	0.195532	0.43234	-6.124	0.47898	T	.	.	0.108	0.34754	B	.;.;.	.;.;.	2.145164	0.27317	17.42	0.8585670367996967	0.16156	0.11593	0.16736	N	AEFDBHCI	0.046830	0.07819	N	-0.34965440587093	0.27285	1.495743	-0.470639215112336	0.22967	1.250127	0.999999926313458	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	5.24	3.39	0.37919	0.899000	0.28049	3.187000	0.36685	0.676000	0.76740	0.548000	0.27330	0.999000	0.35428	0.012000	0.09680	0.2171:0.0:0.7829:0.0	6.782	0.22835	475	0.77788	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1723.43	34	chr6	116616930	.	G	T	1723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=465;ExcessHet=0;FS=5.112;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.822;SOR=1.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	9	0	1	0
chr6	116647521	116647521	T	C	exonic	ZUP1	.	nonsynonymous SNV	ZUP1:NM_001361191:exon7:c.A818G:p.E273G,ZUP1:NM_001361189:exon8:c.A1406G:p.E469G,ZUP1:NM_001361190:exon8:c.A902G:p.E301G,ZUP1:NM_145062:exon8:c.A1406G:p.E469G	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0112721501329	0.0009	0.000399361	0.0010	0	0.0005	0	0	0.0017	0.0022	0.0001	0.0009767	151	154602	rs145019610	0.0008	0.0008	0.0008	0.0008	0.0012	0.0008	0.0008	0.0006	0.0004	5.991e-05	0.0006	0.0221	0	1.895e-05	0.0012	0.0004	0.0021	5.906e-05	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0008	0.0008	0.0007	2.406e-05	0	0.0012	0.0265	0	9.422e-05	0	0.0006	0.0014	0.0002	0.183	0.21718	T	0.309	0.19782	T	0.004	0.12183	B	0.004	0.10090	B	0.143679	0.18203	N	0.590360	0.68812	0.33299	D	.	.	.	1.48	0.31731	T	0.08	0.06026	N	0.199	0.21969	-1.0342	0.19109	T	0.016	0.06664	T	10	0.0035780668	0.00065	T	0.011272	0.28723	T	0.137	0.36984	.	.	0.238096912614	0.23440	0.3370921876838863	0.33622	0.392253626547	0.40409	0.389418780804	0.23587	T	0.001211	0.00709	T	-0.539341	0.00338	T	-0.630534	0.10374	T	0.0347988766970412	0.02775	T	0.582242	0.21111	T	0.13868183	0.32064	0.06918779	0.14545	0.13868183	0.32064	0.06918779	0.14544	-5.078	0.37674	T	.	.	0.076	0.06114	B	.	.	2.127782	0.27087	17.34	0.96888735901079237	0.31488	0.75199	0.36808	D	AEFBI	0.185689	0.31301	N	-0.467145087098508	0.23162	1.24193	-0.259166875711531	0.29457	1.650484	0.957874029027005	0.28329	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.28	4.15	0.47978	1.098000	0.30612	3.260000	0.37085	0.609000	0.47794	0.977000	0.34929	1.000000	0.68203	0.834000	0.39329	0.0:0.114:0.0:0.886	9.715	0.39436	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.000000	0.1	1628.14	42	chr6	116647521	.	T	C	1628.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.187;DP=435;ExcessHet=0.2348;FS=1.313;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.101;SOR=0.832	GT:AD:DP:GQ:PL	0/1:34,30:64:99:609,0,716	8	0	2	0
chr6	116660743	116660743	-	AAGCTGT	exonic	ZUP1	.	frameshift insertion	ZUP1:NM_001361191:exon2:c.74_75insACAGCTT:p.F25Lfs*9,ZUP1:NM_001361189:exon3:c.662_663insACAGCTT:p.F221Lfs*9,ZUP1:NM_001361190:exon3:c.158_159insACAGCTT:p.F53Lfs*9,ZUP1:NM_145062:exon3:c.662_663insACAGCTT:p.F221Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1030.39	33	chr6	116660743	.	A	AAAGCTGT	1030.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.555;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.41;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	9	0	1	0
chr6	118816260	118816260	G	A	exonic	MCM9	.	nonsynonymous SNV	MCM9:NM_001378366:exon11:c.C1724T:p.T575M,MCM9:NM_001378360:exon12:c.C1850T:p.T617M,MCM9:NM_001378364:exon12:c.C1792T:p.R598W,MCM9:NM_001378356:exon13:c.C1996T:p.R666W,MCM9:NM_001378359:exon13:c.C1850T:p.T617M,MCM9:NM_001378357:exon14:c.C1996T:p.R666W,MCM9:NM_001378367:exon14:c.C1652T:p.T551M,MCM9:NM_017696:exon14:c.C1996T:p.R666W	Ovarian dysgenesis 4, Autosomal recessive	430	1082	10	0	0	10	0.00459982	.	.	.	3398002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	.	.	0.00339457	0.0049	0.0034	0.0077	0.0021	0.0062	0.0063	0.0109	0.0035	0.0015977	247	154602	rs75607191	0.0080	0.0077	0.0082	0.0079	0.0093	0.0079	0.0079	0.0091	0.0091	0.0026	0.0029	0.0022	0.0017	0.0049	0.0016	0.0093	0.0074	0.0031	0.0057	0.0057	0.0059	0.0054	0.0086	0.0054	0.0052	0.0080	0.0078	0.0027	0	0.0035	0.0037	0.0039	0.0055	0	0.0086	0.0052	0.0033	0.035	0.43708	D	0.023	0.57104	D	0.001	0.07471	B	0.0	0.01387	B	0.666421	0.10381	N	0.853391	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.84	0.22944	N	0.053	0.02462	-0.9581	0.39534	T	0.013	0.04843	T	10	0.004149258	0.00082	T	.	.	.	0.099	0.28413	.	.	0.320256813643	0.31633	0.30725911437981607	0.30638	0.123927475785	0.13947	0.179488107562	0.00089	T	0.077157	0.35589	T	-0.539637	0.00336	T	-0.538533	0.18440	T	0.0126444460694241	0.00212	T	0.581942	0.21082	T	0.040088743	0.05657	0.03386222	0.02353	0.04614843	0.07674	0.03386222	0.02353	-6.545	0.50633	T	.	.	0.079	0.10304	B	.;.	.;.	1.392080	0.18050	13.52	0.81215365544448126	0.13576	0.07522	0.13536	N	AEFBI	0.105012	0.20994	N	-0.728929134106233	0.15211	0.7646582	-0.808616265274746	0.14286	0.7457212	0.0705744822745053	0.15533	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.17	-0.273	0.12276	0.074000	0.14525	0.082000	0.14403	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0738:0.3051:0.2439:0.3773	3.743	0.08063	457	0.78953	.;.	.	.	.	.	rs75607191	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001340	0.000000	0.000000	0.005952	0.000000	0.000000	0.000000	0.000000	0.05	1012.43	42	chr6	118816260	.	G	A	1012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=3.05;SOR=0.607	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr6	118975984	118975984	T	C	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon12:c.A2156G:p.N719S,FAM184A:NM_001288576:exon12:c.A2156G:p.N719S,FAM184A:NM_024581:exon12:c.A2516G:p.N839S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00278515324792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.318	0.19246	T	0.003	0.11197	B	0.013	0.16460	B	0.043193	0.23764	N	0.474960	0.927997	0.27131	N	1.95	0.52479	M	2.52	0.21666	T	-0.23	0.12283	N	0.05	0.04913	-0.9420	0.42298	T	0.014	0.05705	T	10	0.02553171	0.00744	T	0.002785	0.05781	T	0.051	0.14325	0.135	0.03920	0.0482279557977	0.04254	0.05908708837999286	0.05848	0.114882793964	0.12965	0.255550801754	0.04375	T	0.004406	0.06247	T	-0.353972	0.04483	T	-0.746233	0.03635	T	0.0854333937168121	0.10667	T	0.854015	0.59977	D	0.031558435	0.03017	0.037560426	0.03434	0.031558435	0.03017	0.037560426	0.03434	-2.053	0.03388	T	.	.	0.052	0.00280	B	.;.;.;.;.;.	.;.;.;.;.;.	0.438904	0.08091	4.818	0.67561984020219845	0.08392	0.46201	0.27707	N	AEFI	0.133063	0.25259	N	-0.963977134281525	0.09381	0.4437643	-0.913070484706453	0.11784	0.6025158	2.59677408594814E-4	0.06190	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	-2.89	0.05326	-0.004000	0.12813	-0.255000	0.10474	-0.311000	0.06080	0.697000	0.28597	0.211000	0.23643	0.991000	0.66497	0.0:0.4317:0.0:0.5683	10.866	0.46063	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	60.49	34	chr6	118975984	.	T	C	60.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.368;DP=483;ExcessHet=0;FS=196.622;InbreedingCoeff=-0.058;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.62;SOR=8.581	GT:AD:DP:GQ:PL	0/0:33,10:43:20:0,20,420	9	0	1	0
chr6	122783744	122783744	G	A	exonic	FABP7	.	nonsynonymous SNV	FABP7:NM_001319042:exon4:c.G364A:p.V122I,FABP7:NM_001446:exon4:c.G376A:p.V126I	.	420	1096	5	1	0	7	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0154215191171	.	0.000399361	9.062e-05	0	0	0	0	0.0001	0	0.0002	0.0001035	16	154602	rs77153426	6.322e-05	6.362e-05	5.195e-05	7.461e-05	0.0005	5.252e-05	4.868e-05	0.0001	8.819e-05	0	2.328e-05	0	0	0	0.0005	6.396e-05	3.324e-05	0.0002	7.223e-05	7.875e-05	5.141e-05	9.4e-05	0.0006	3.969e-05	3.126e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.062	0.36912	T	0.189	0.28575	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	0.999971	0.53665	D	1.57	0.39626	L	3.06	0.08634	T	-0.62	0.18248	N	0.175	0.18784	-1.0414	0.16890	T	0.011	0.03903	T	9	0.14036414	0.26682	T	0.015422	0.36141	T	0.103	0.29403	0.549	0.66436	0.392855499163	0.38900	.	.	0.16724287449	0.18862	0.270776748657	0.06243	T	0.086488	0.37736	T	-0.382068	0.03024	T	-0.522163	0.20075	T	0.0692095382658023	0.08541	T	0.818818	0.47619	T	0.2120358	0.43545	0.23689161	0.48972	0.2120358	0.43544	0.23689161	0.48971	-4.523	0.31188	T	.	.	0.079	0.07177	B	.	.	2.278303	0.29126	18.02	0.98705368100683655	0.44967	0.91819	0.54331	D	AEFDBCI	0.704641	0.66029	D	-0.0996626492339732	0.37407	2.17588	0.0556642698724249	0.42346	2.559725	0.999991937297232	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.4	3.59	0.40253	4.543000	0.60395	2.841000	0.35080	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.995000	0.73285	0.143:0.0:0.857:0.0	11.852	0.51693	539	0.73055	Lipocalin/cytosolic fatty-acid binding domain|Cytosolic fatty-acid binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	915.43	37	chr6	122783744	.	G	A	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.034;DP=408;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.716;SOR=0.968	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1073	9	0	1	0
chr6	123352541	123352541	T	C	exonic	TRDN	.	nonsynonymous SNV	TRDN:NM_001251987:exon21:c.A1370G:p.Q457R,TRDN:NM_006073:exon21:c.A1367G:p.Q456R	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, Autosomal recessive	6	1506	10	0	0	10	0.00330907	0.8442	0.57	.	229398	Cardiovascular_phenotype|Catecholaminergic_polymorphic_ventricular_tachycardia_1|not_specified|not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia_5	MedGen:CN230736|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014191,MedGen:C3809536,OMIM:615441,Orphanet:3286	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0117083682409	0.0024	0.000399361	0.0012	0.0010	8.908e-05	0	0.0003	0.0017	0.0022	0.0012	0.0013519	209	154602	rs200243235	0.0021	0.0021	0.0021	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0001	0	0	0.0003	0.0005	0.0025	0.0018	0.0016	0.0013	0.0013	0.0014	0.0012	0.0024	0.0011	0.0011	0.0021	0.0020	0.0006	0	6.564e-05	0	0	0	0	0.0024	0	0.0014	0.0	0.91255	D	0.196	0.27943	T	0.999	0.77913	D	0.915	0.65091	D	0.000193	0.48115	D	0.000000	0.936174	0.26924	N	0.805	0.20218	L	2.29	0.17113	T	-0.82	0.22508	N	0.322	0.36254	-1.0853	0.06353	T	0.032	0.13767	T	10	0.013671964	0.00289	T	0.011708	0.29605	T	0.054	0.15330	.	.	0.101711395817	0.09552	0.0055751895314358705	0.00527	.	.	0.497182607651	0.38436	T	0.142311	0.47783	T	-0.452048	0.01099	T	-0.421983	0.30847	T	0.057154620617361	0.06713	T	0.451655	0.12799	T	0.3994474	0.60694	0.45604387	0.68380	0.3994474	0.60694	0.45604387	0.68381	-4.292	0.28065	T	0.3408897636466289	0.43862	0.132	0.28521	B	.	.	4.703091	0.75479	26.3	0.99842116485199861	0.92229	0.84673	0.43758	D	AEFGHCIJ	0.599758	0.59265	D	0.369983115890946	0.59801	4.162756	0.417521236726718	0.62654	4.484724	0.999520267661672	0.40175	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.65	4.42	0.52775	2.961000	0.48861	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1631:0.8369	10.434	0.43612	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1209.43	35	chr6	123352541	.	T	C	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.783;DP=435;ExcessHet=0;FS=2.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.42;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1268	9	0	1	0
chr6	125076745	125076745	G	A	exonic	RNF217	.	nonsynonymous SNV	RNF217:NM_001286398:exon4:c.G1370A:p.R457H,RNF217:NM_152553:exon6:c.G494A:p.R165H	.	422	1072	27	1	0	29	0.0133456	.	.	.	1329846	Multiple_sclerosis,_susceptibility_to	MONDO:MONDO:0007462,MedGen:C1868685,OMIM:126200,OMIM:PS126200	no_assertion_criteria_provided	risk_factor	.	.	.	.	.	.	.	.	0.287	.	0.0058	0.00459265	0.0044	0.0091	0.0044	0.0001	0.0009	0.0046	0.0077	0.0044	0.0043855	678	154602	rs73580047	0.0032	0.0032	0.0031	0.0033	0.0231	0.0031	0.0031	0.0199	0.0187	0.0091	0.0051	0.0145	5.04e-05	0.0007	0.0231	0.0026	0.0054	0.0047	0.0054	0.0054	0.0054	0.0055	0.0089	0.0051	0.0050	0.0081	0.0078	0.0089	0	0.0087	0.0150	0	0.0008	0.0272	0.0031	0.0095	0.0040	0.016	0.51853	D	0.09	0.52727	T	.	.	.	.	.	.	0.000000	0.84330	D	0.050543	1	0.81001	D	1.67	0.42885	L	-0.21	0.66294	T	-2.62	0.74269	D	0.482	0.78832	-0.8695	0.50567	T	0.119	0.41799	T	10	0.008839369	0.00200	T	.	.	.	0.287	0.60574	.	.	0.778352746376	0.77631	0.6200055728622266	0.61933	0.585133817293	0.54168	0.785527586937	0.79764	T	0.254848	0.62556	T	-0.162658	0.26351	T	0.000115484	0.70344	D	0.0392234580538141	0.03550	T	0.922308	0.73352	D	0.25628865	0.48667	0.186939	0.41896	0.25628865	0.48667	0.186939	0.41895	-11.046	0.79910	D	.	.	0.471	0.70186	A	.;.;.;.	.;.;.;.	5.533034	0.91890	32	0.99935858215791484	0.99621	0.95270	0.64072	D	AEFDBCIJ	0.897967	0.84073	D	0.339720528204253	0.58200	3.99084	0.470407099483941	0.66036	4.900287	0.999999999976962	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.78367	0.99111	0	0.714379	0.83352	0	.	.	5.56	4.68	0.58319	7.689000	0.83445	9.853000	0.82002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0719:0.0:0.9281:0.0	14.198	0.65225	951	0.11083	IBR domain;IBR domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021652	0.045455	0.021739	0.017544	0.000000	0.034483	0.012195	0.018939	0.1	4054.12	38	chr6	125076745	.	G	A	4054.12	.	AC=2;AF=0.1;AN=20;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.81;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	9	1	0	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I,NCOA7:NM_001199621:exon13:c.C2255T:p.T752I,NCOA7:NM_001122842:exon14:c.C2567T:p.T856I,NCOA7:NM_181782:exon14:c.C2600T:p.T867I,NCOA7:NM_001199619:exon15:c.C2600T:p.T867I,NCOA7:NM_001199620:exon16:c.C2600T:p.T867I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	87.93	34	chr6	125927739	.	C	T	87.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.76;DP=893;ExcessHet=0.2348;FS=135.939;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.45;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,22:159:45:0|1:125927739_C_T:45,0,4635:125927739	8	0	2	0
chr6	127515894	127515894	C	T	exonic	SOGA3	.	nonsynonymous SNV	SOGA3:NM_001012279:exon2:c.G721A:p.G241S	.	342	1136	43	1	0	45	0.0194217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0037	0.00519169	0.0066	0.0016	0.0042	0.0001	0.0005	0.0085	0.0119	0.0093	0.0063389	980	154602	rs146616372	0.0061	0.0061	0.0058	0.0065	0.0154	0.0060	0.0060	0.0128	0.0119	0.0013	0.0045	0.0362	0	0.0007	0.0154	0.0057	0.0085	0.0097	0.0053	0.0053	0.0053	0.0053	0.0100	0.0050	0.0049	0.0087	0.0082	0.0010	0.0044	0.0100	0.0352	0.0004	0.0004	0.0068	0.0060	0.0099	0.0097	0.342	0.12632	T	0.114	0.37037	T	0.001	0.07471	B	0.001	0.04355	B	0.183284	0.17044	N	0.508971	0.980846	0.25083	N	0.55	0.14455	N	0.77	0.49642	T	0.28	0.04233	N	0.094	0.07673	-0.9613	0.38936	T	0.015	0.05897	T	10	0.0022513568	0.00033	T	.	.	.	0.037	0.09474	.	.	0.0138822411134	0.00435	0.24595468288571365	0.24509	.	.	0.500894546509	0.38953	T	0.012343	0.10867	T	-0.547645	0.00301	T	-0.551754	0.17157	T	0.00708383638216742	0.00081	T	0.539746	0.18256	T	0.02686775	0.01801	0.052936826	0.08818	0.02686775	0.01800	0.052936826	0.08818	-4.534	0.31330	T	.	.	0.080	0.07650	B	.;.	.;.	2.691677	0.35134	19.82	0.98028413124919289	0.37689	0.04124	0.09601	N	AEFDGBCIJ	0.231503	0.35472	N	-1.10420077782074	0.06568	0.3027245	-1.05318605825866	0.08641	0.4258427	0.999999983140655	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.44	0.487	0.16050	0.986000	0.29190	1.101000	0.24069	0.519000	0.23678	0.949000	0.33028	1.000000	0.68203	0.921000	0.45669	0.0:0.6169:0.1745:0.2086	4.930	0.13264	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.005435	0.008772	0.050000	0.017241	0.015244	0.015152	0.1	3068.12	33	chr6	127515894	.	C	T	3068.12	.	AC=2;AF=0.1;AN=20;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.22;SOR=0.876	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1084	9	1	0	0
chr6	127855173	127855173	A	G	exonic	THEMIS	.	startloss	THEMIS:NM_001010923:exon2:c.T107C:p.M36T,THEMIS:NM_001164685:exon2:c.T107C:p.M36T,THEMIS:NM_001164687:exon2:c.T2C:p.M1?	.	488	1006	21	7	0	35	0.0170982	.	.	.	699293	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.132	.	0.0016	0.00399361	0.0041	0.0004	0.0018	0	0.0008	0.0027	0.0096	0.0174	0.0032923	509	154602	rs148069630	0.0023	0.0023	0.0019	0.0027	0.0158	0.0022	0.0022	0.0151	0.0148	0.0002	0.0015	0.0094	0	0.0012	0.0129	0.0012	0.0036	0.0158	0.0019	0.0019	0.0017	0.0021	0.0174	0.0017	0.0017	0.0144	0.0133	0.0002	0	0.0026	0.0101	0	0.0017	0.0068	0.0015	0.0033	0.0174	0.011	0.68238	D	0.031	0.65728	D	0.023	0.18885	B	0.012	0.16012	B	0.000036	0.55875	N	0.162448	1	0.81001	D	2.64	0.77224	M	2.56	0.19990	T	-2.47	0.53898	N	0.675	0.69387	-1.0863	0.06173	T	0.029	0.12585	T	10	0.009416193	0.00265	T	.	.	.	0.132	0.35948	.	.	0.233785782151	0.22967	0.6429756445759902	0.64232	.	.	0.614683508873	0.54977	T	0.25652	0.62744	T	-0.358524	0.04214	T	-0.275447	0.47268	T	0.14001697254414	0.16277	T	0.723528	0.65058	T	0.56582403	0.70831	0.62475485	0.78129	0.56582403	0.70832	0.62475485	0.78130	-7.603	0.58332	D	.	.	0.277	0.56812	B	.;.;.;.	.;.;.;.	3.743792	0.53625	23.4	0.98635923872524434	0.43974	0.85049	0.44151	D	AEFBI	0.393451	0.47109	N	0.142214506295157	0.48444	3.056582	0.225491351012938	0.51267	3.310643	0.00133736998524389	0.08454	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.73	4.57	0.55860	3.116000	0.50092	7.963000	0.76010	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.6842:0.1259:0.0688:0.1211	4.437	0.10978	735	0.53711	CABIT domain;CABIT domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012614	0.005102	0.008152	0.011765	0.000000	0.008621	0.012195	0.037879	0.05	1073.43	34	chr6	127855173	.	A	G	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.275;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=2.63;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	9	0	1	0
chr6	128083813	128083813	C	T	exonic	PTPRK	.	nonsynonymous SNV	PTPRK:NM_001291983:exon8:c.G1090A:p.V364I,PTPRK:NM_001135648:exon9:c.G1477A:p.V493I,PTPRK:NM_001291981:exon9:c.G1477A:p.V493I,PTPRK:NM_001291982:exon9:c.G1477A:p.V493I,PTPRK:NM_001291984:exon9:c.G1477A:p.V493I,PTPRK:NM_002844:exon9:c.G1477A:p.V493I	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0032	0.00519169	0.0070	0.0004	0.0011	0.0001	0.0044	0.0039	0.0078	0.0326	0.0062548	967	154602	rs61756668	0.0048	0.0048	0.0038	0.0058	0.0340	0.0047	0.0047	0.0329	0.0325	0.0005	0.0009	0.0060	0.0002	0.0038	0.0090	0.0031	0.0050	0.0340	0.0037	0.0037	0.0030	0.0044	0.0312	0.0034	0.0033	0.0271	0.0256	0.0005	0.0033	0.0009	0.0063	0.0004	0.0041	0.0102	0.0044	0.0024	0.0312	0.742	0.03787	T	0.935	0.02804	T	0.974	0.59044	D	0.973	0.76113	D	0.000004	0.62929	D	0.061993	0.999777	0.48980	D	0.495	0.13372	N	3.03	0.08898	T	-0.19	0.09965	N	0.107	0.14905	-0.9453	0.41764	T	0.019	0.08079	T	10	0.007073939	0.00161	T	.	.	.	0.113	0.31778	.	.	0.174091166621	0.17034	0.16846825306963933	0.16766	1.1496403519	0.79166	0.412784636021	0.26842	T	0.026472	0.22997	T	-0.532851	0.00370	T	-0.513113	0.20995	T	0.0355503563601861	0.02903	T	.	.	.	0.033219963	0.03497	0.04853635	0.07229	0.033219963	0.03497	0.04853635	0.07229	-6.871	0.53792	T	.	.	0.072	0.07937	B	.;.;.;.;.;.	.;.;.;.;.;.	4.038878	0.59774	24.1	0.94339044324088406	0.24678	0.94404	0.61057	D	AEFGBI	0.500393	0.53367	D	0.0233442524882735	0.42917	2.595069	0.190487342982992	0.49324	3.137001	0.999874279405602	0.44625	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	4.605000	0.60825	4.911000	0.45953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9234:0.0:0.0766	14.122	0.64723	704	0.57414	.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	347.43	35	chr6	128083813	.	C	T	347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.371;DP=363;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-1.239;SOR=0.43	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,860	9	0	1	0
chr6	129148991	129148991	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon7:c.G922A:p.E308K,LAMA2:NM_001079823:exon7:c.G922A:p.E308K	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	237299	not_provided|LAMA2-related_muscular_dystrophy|not_specified|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency	MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788|MedGen:CN169374|MedGen:C1842898	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.0173803037009	0.0012	0.000199681	0.0011	0.0003	0.0008	0	0	0.0015	0.0022	0.0014	0.0010802	167	154602	rs146462599	0.0012	0.0012	0.0011	0.0013	0.0038	0.0012	0.0012	0.0026	0.0022	8.978e-05	0.0007	0.0016	0	1.872e-05	0.0038	0.0013	0.0013	0.0018	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0013	0.0012	0.0002	0	0.0005	0.0023	0	0	0.0068	0.0016	0.0009	0.0008	0.117	0.28271	T	.	.	.	0.955	0.54515	P	0.698	0.54098	P	0.000003	0.62929	D	0.059258	0.999984	0.54805	D	2.075	0.57047	M	-0.02	0.62918	T	-1.61	0.38734	N	0.586	0.61933	-0.8207	0.53890	T	0.230	0.59558	T	10	0.1259566	0.23941	T	0.01738	0.39055	T	0.161	0.41658	.	.	0.78777203786	0.78580	0.7473029635569127	0.74676	0.4355629293	0.43657	0.520483851433	0.41694	T	0.024861	0.47531	T	-0.24648	0.14533	T	-0.134092	0.60625	T	0.0331931516024395	0.02503	T	0.940639	0.77718	D	0.27182102	0.50252	0.2773832	0.53691	0.27182102	0.50252	0.2773832	0.53690	-7.186	0.55380	T	.	.	0.126	0.26731	B	.;.;.	.;.;.	5.190710	0.87057	29.1	0.99892958388140418	0.96666	0.98990	0.89628	D	AEFBI	0.855367	0.77248	D	0.626966317967163	0.74887	6.20951	0.680847899201418	0.80929	7.408827	0.999985139180701	0.51787	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.92	5.92	0.95557	6.293000	0.72717	9.901000	0.82349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1372:0.8628:0.0	16.765	0.85383	903	0.23940	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	226.43	35	chr6	129148991	.	G	A	226.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.442;DP=358;ExcessHet=0;FS=2.937;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.92;ReadPosRankSum=-1.902;SOR=1.279	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,919	9	0	1	0
chr6	129267185	129267185	C	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon16:c.C2288T:p.A763V,LAMA2:NM_001079823:exon16:c.C2288T:p.A763V	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	455207	Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency|LAMA2-related_muscular_dystrophy|not_provided	MedGen:C1842898|MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.383	0.0384690841205	.	0.000399361	0.0002	0	0	0.0012	0	8.992e-05	0	0.0004	0.0001552	24	154602	rs141521127	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0028	0.0026	0	0	0.0018	0.0032	0	0.0003	4.86e-05	0.0002	0.0006	0.0001	0.0001	0.0001	0.0001	0.0021	8.167e-05	6.723e-05	0.0012	0.0009	0	0	6.543e-05	0.0009	0.0021	0	0	2.941e-05	0	0.0004	0.002	0.72154	D	.	.	.	0.999	0.77913	D	0.889	0.63100	P	0.000011	0.62929	D	0.064550	0.999996	0.58761	D	2.31	0.66127	M	0.04	0.62051	T	-3.14	0.64019	D	0.622	0.64989	-0.2539	0.76254	T	0.385	0.74091	T	10	0.09862691	0.17845	T	0.038469	0.58239	D	0.383	0.70029	.	.	0.8349895251	0.83341	0.568770039781489	0.56805	0.433853106296	0.43527	0.543026685715	0.44874	T	0.058498	0.62120	T	-0.139031	0.30045	T	-0.0229262	0.68836	D	0.242683126496826	0.22542	T	0.877312	0.60617	D	0.42491737	0.62417	0.40663326	0.65031	0.42491737	0.62418	0.40663326	0.65031	-11.305	0.81304	D	0.2467909815087228	0.33422	0.225	0.45714	B	.;.;.	.;.;.	4.709538	0.75645	26.4	0.99935615425962498	0.99579	0.91224	0.53104	D	AEFDBHCIJ	0.641705	0.61894	D	0.789214879695692	0.85425	8.572434	0.776923975787765	0.88149	9.474432	0.999999993010954	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.550215	0.18615	0	0.530356	0.10902	0	.	.	5.75	5.75	0.90390	5.241000	0.65206	4.922000	0.46051	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	19.953	0.97209	828	0.39726	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1058.43	36	chr6	129267185	.	C	T	1058.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.319;DP=405;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.094;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	9	0	1	0
chr6	129315940	129315940	A	C	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon26:c.A3914C:p.E1305A,LAMA2:NM_001079823:exon26:c.A3914C:p.E1305A	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0203989777683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.07619	T	.	.	.	0.991	0.64070	D	0.903	0.64103	P	0.000000	0.84330	D	0.052414	0.999987	0.54805	D	1.975	0.53506	M	1.28	0.35960	T	-1.7	0.40468	N	0.522	0.61511	-1.0727	0.08830	T	0.091	0.34765	T	10	0.4822521	0.60501	T	0.020399	0.42987	T	0.250	0.55888	0.624	0.75916	0.591496729656	0.58826	0.5642072691617266	0.56347	0.408498947633	0.41690	0.572437286377	0.49023	T	0.027508	0.34472	T	-0.0411517	0.45778	T	-0.296888	0.45053	T	0.958801805973053	0.65367	D	0.931007	0.74365	D	0.77534455	0.82369	0.6995639	0.82301	0.77534455	0.82371	0.6995639	0.82302	-5.356	0.40494	T	0.4703109063851091	0.55089	0.136	0.29615	B	.;.;.	.;.;.	4.668467	0.74591	26.2	0.97670078092111579	0.35247	0.99040	0.90348	D	AEFBI	0.863447	0.78199	D	0.579507800537866	0.71896	5.721228	0.61645052462553	0.76134	6.435381	0.999918774594531	0.45857	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.4	5.4	0.77957	8.863000	0.91893	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.718	0.77447	836	0.38045	Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV;Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2107.43	33	chr6	129315940	.	A	C	2107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.713;DP=450;ExcessHet=0;FS=3.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.098;SOR=0.969	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	9	0	1	0
chr6	129402436	129402436	A	T	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon39:c.A5675T:p.Q1892L,LAMA2:NM_001079823:exon39:c.A5675T:p.Q1892L	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	428507	not_specified|LAMA2-related_muscular_dystrophy|not_provided	MedGen:CN169374|MONDO:MONDO:0100228,MedGen:C5679788|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.0104401302647	.	.	8.256e-06	0	0	0	0	1.501e-05	0	0	1.29e-05	2	154602	rs779542581	1.3e-05	1.3e-05	9.529e-06	1.65e-05	0.0002	8.31e-06	6.7e-06	8.1e-06	6.42e-06	0	2.236e-05	0	0	0	0.0002	1.349e-05	3.312e-05	0	1.97e-05	1.968e-05	1.285e-05	2.686e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	2.406e-05	0	0	0	0	0	0	0	0	0.0004	0.009	0.57480	D	.	.	.	0.937	0.52445	P	0.4	0.44481	B	0.004687	0.33486	N	0.294219	0.91143	0.36422	D	2.24	0.63355	M	2.11	0.19860	T	-3.39	0.66896	D	0.561	0.58543	-1.1030	0.03747	T	0.029	0.12585	T	10	0.38149348	0.54227	T	0.01044	0.26980	T	0.095	0.27398	0.487	0.57098	0.59634542923	0.59313	0.41109830527315216	0.41025	0.110571958066	0.12480	0.381315410137	0.22443	T	0.056	0.67739	T	-0.201474	0.20591	T	-0.419523	0.31129	T	0.551844477653503	0.34547	D	0.810819	0.46223	T	0.25149247	0.48158	0.28987747	0.55009	0.25149247	0.48158	0.28987747	0.55009	-3.613	0.18045	T	0.27700814633320897	0.37167	0.085	0.10208	B	.;.;.	.;.;.	2.901118	0.38450	20.7	0.98377695676234445	0.40822	0.95858	0.66456	D	AEFDGBHCI	0.451901	0.50568	N	0.274391933130924	0.54854	3.650121	0.271472075864794	0.53881	3.554972	0.997488805964499	0.35668	0.516011	0.20929	0	0.563428	0.19063	0	0.597571	0.31856	0	0.586402	0.36253	0	.	.	5.89	2.19	0.26890	5.181000	0.64892	2.185000	0.31161	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8128:0.0:0.1872:0.0	9.857	0.40261	884	0.28482	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1267.43	82	chr6	129402436	.	A	T	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=426;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=-1.585;SOR=0.814	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1018	9	0	1	0
chr6	132324056	132324056	C	T	exonic	MOXD1	.	nonsynonymous SNV	MOXD1:NM_015529:exon7:c.G988A:p.D330N	.	428	1081	12	1	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0065	0.00199681	0.0077	0.0013	0.0032	0.0001	0.0139	0.0110	0.0067	0.0030	0.0077748	1202	154602	rs35248832	0.0089	0.0089	0.0090	0.0089	0.0171	0.0088	0.0087	0.0144	0.0134	0.0012	0.0031	0.0173	5.04e-05	0.0139	0.0171	0.0098	0.0071	0.0027	0.0070	0.0070	0.0073	0.0067	0.0097	0.0066	0.0065	0.0091	0.0088	0.0017	0.0493	0.0034	0.0156	0.0002	0.0138	0.0272	0.0097	0.0066	0.0025	0.104	0.32296	T	0.636	0.07127	T	0.0	0.07471	B	0.002	0.08700	B	0.245554	0.15619	N	0.653662	1	0.08975	N	0.865	0.21413	L	1.38	0.34050	T	-1.13	0.29114	N	0.294	0.33250	-1.0322	0.19745	T	0.022	0.09513	T	10	0.0050245225	0.00108	T	.	.	.	0.051	0.14325	.	.	0.148003135375	0.14442	0.4082048456799976	0.40736	0.0284185129673	0.02920	0.449232816696	0.31839	T	0.131283	0.46067	T	-0.655778	0.00067	T	-0.6985	0.05908	T	0.00325797391021722	0.00034	T	0.812719	0.46458	T	0.051059015	0.09321	0.03765972	0.03465	0.051059015	0.09320	0.03765972	0.03465	-3.251	0.14338	T	.	.	0.068	0.02765	B	.;.	.;.	2.245368	0.28674	17.88	0.98060817535635492	0.37944	0.38948	0.26103	N	AEFBI	0.114995	0.22628	N	-0.520750415464647	0.21411	1.136018	-0.404473039873985	0.24865	1.364079	0.210563440174863	0.18234	0.638212	0.43195	0	0.60822	0.50512	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.75	3.96	0.45097	1.254000	0.32500	2.628000	0.33675	0.599000	0.40250	0.735000	0.28974	0.992000	0.31684	0.914000	0.44937	0.0:0.7361:0.1264:0.1376	8.331	0.31345	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.020202	0.004076	0.023392	0.000000	0.043103	0.003049	0.000000	0.05	939.43	33	chr6	132324056	.	C	T	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.986;DP=385;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.608;SOR=0.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1237	9	0	1	0
chr6	132328019	132328019	C	T	exonic	MOXD1	.	nonsynonymous SNV	MOXD1:NM_015529:exon6:c.G940A:p.E314K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0051219262319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1468276907	3.429e-06	4.104e-06	1.365e-06	5.513e-06	2.327e-05	1.01e-06	7.3e-07	3.86e-06	1.45e-06	0	0	0	0	0	0	2.705e-06	0	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01958	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.207910	0.16437	N	0.591600	1	0.08975	N	-1.125	0.00941	N	1.62	0.28189	T	0.11	0.05706	N	0.169	0.18239	-0.9218	0.45307	T	0.005	0.01833	T	10	0.035981655	0.01873	T	0.005122	0.13001	T	0.010	0.01040	0.455	0.51938	0.0716867268079	0.06686	0.3438528016329582	0.34299	0.0303853612218	0.03137	0.226025626063	0.01687	T	0.042957	0.26348	T	-0.447586	0.01167	T	-0.780073	0.02451	T	0.00840913872507467	0.00102	T	0.751425	0.37327	T	0.029086871	0.02347	0.039500028	0.04056	0.029086871	0.02346	0.039500028	0.04056	-3.12	0.11644	T	.	.	0.050	0.00154	B	.;.	.;.	0.295511	0.06715	3.224	0.20512353419482404	0.00741	0.01796	0.05610	N	AEFBI	0.037838	0.05266	N	-1.43949862505002	0.02300	0.1014312	-1.35343527504108	0.03765	0.1763219	0.0178010249579584	0.12990	0.638212	0.43195	0	0.659912	0.62753	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.38	-0.922	0.09936	0.190000	0.16864	0.940000	0.22845	-0.193000	0.09282	0.101000	0.22814	0.989000	0.31174	0.140000	0.19946	0.0:0.3135:0.1961:0.4904	6.905	0.23483	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	608.43	35	chr6	132328019	.	C	T	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.966;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1079	9	0	1	0
chr6	132553382	132553382	T	G	exonic	TAAR8	.	nonsynonymous SNV	TAAR8:NM_053278:exon1:c.T690G:p.I230M	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00399155185411	.	.	8.28e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs770118880	7.183e-05	7.182e-05	7.079e-05	7.288e-05	0.0002	6.047e-05	5.595e-05	6.959e-05	6.455e-05	0	0	0	2.521e-05	0	0.0002	8.363e-05	1.656e-05	0.0001	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.022	0.48642	D	0.02	0.58613	D	0.669	0.41149	P	0.633	0.51840	P	0.000482	0.43931	D	0.087644	1	0.08975	N	1.655	0.42436	L	1.14	0.38397	T	-2.05	0.47008	N	0.227	0.25499	-1.0589	0.12032	T	0.047	0.19958	T	10	0.13998279	0.26611	T	0.003992	0.09462	T	0.146	0.38789	0.56	0.67958	0.268660756437	0.26461	0.10717012870932109	0.10647	0.0839010262368	0.09463	0.420461237431	0.27900	T	0.018438	0.14866	T	-0.327388	0.06311	T	-0.611192	0.11889	T	0.183806338927193	0.19472	T	0.757524	0.38090	T	0.14800546	0.33809	0.093583494	0.22112	0.14800546	0.33808	0.093583494	0.22111	-7.4	0.56905	T	.	.	0.087	0.11172	B	.	.	0.126582	0.05232	1.736	0.80764298918331368	0.13358	0.03238	0.08256	N	AEFBI	0.044228	0.07088	N	-1.35168725098943	0.03108	0.1382859	-1.60687904749513	0.01614	0.07322769	0.873300710873721	0.25463	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.72	-7.91	0.01031	-2.187000	0.01335	-14.411000	0.00405	-3.102000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3582:0.1466:0.3651:0.1302	2.370	0.04064	816	0.41767	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	841.43	33	chr6	132553382	.	T	G	841.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.359;DP=376;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.417;SOR=0.563	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr6	132694054	132694054	C	T	exonic	VNN1	.	nonsynonymous SNV	VNN1:NM_004666:exon3:c.G470A:p.R157H	.	426	1069	26	1	0	28	0.0129271	.	.	.	699322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.250	0.0279564274236	0.0053	0.00299521	0.0063	0.0009	0.0030	0	0.0041	0.0084	0.0055	0.0079	0.0060995	943	154602	rs150683215	0.0061	0.0061	0.0058	0.0064	0.0088	0.0060	0.0059	0.0083	0.0081	0.0011	0.0035	0.0083	2.519e-05	0.0057	0.0078	0.0063	0.0058	0.0088	0.0062	0.0062	0.0060	0.0063	0.0106	0.0058	0.0057	0.0090	0.0088	0.0009	0	0.0080	0.0055	0.0002	0.0041	0.0068	0.0097	0.0028	0.0106	0.097	0.30943	T	0.168	0.30631	T	0.041	0.21357	B	0.077	0.28532	B	0.012407	0.29184	N	0.336386	1	0.08975	N	2.045	0.56016	M	-2.02	0.85542	D	-1.75	0.41428	N	0.225	0.25253	-0.7858	0.55973	T	0.286	0.65792	T	10	0.009795427	0.00220	T	0.027956	0.50703	D	0.250	0.55888	.	.	0.459818148978	0.45609	0.3778433226994323	0.37699	0.0433830160621	0.04671	0.250777333975	0.03850	T	0.259232	0.63048	T	-0.406631	0.02094	T	-0.3439	0.39902	T	0.0104873549408807	0.00145	T	0.763624	0.39028	T	0.36918196	0.58524	0.132921	0.31884	0.36918196	0.58525	0.132921	0.31883	-6.706	0.51855	T	.	.	0.063	0.01491	B	.	.	2.366583	0.30359	18.41	0.97984939592233244	0.37356	0.10532	0.16013	N	AEFDBHCI	0.218317	0.34333	N	-0.645805610194577	0.17582	0.9059889	-0.567105415369334	0.20354	1.096186	0.967819588761343	0.29005	0.55562	0.30534	0	0.68496	0.65989	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	6.07	3.99	0.45527	0.015000	0.13250	-0.573000	0.08416	-0.186000	0.09761	0.002000	0.15269	0.000000	0.08366	0.995000	0.73285	0.0:0.7422:0.0:0.2578	11.427	0.49261	892	0.26670	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase	.	.	.	.	rs150683215	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.010101	0.004076	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	1456.43	124	chr6	132694054	.	C	T	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.778;DP=435;ExcessHet=0;FS=0.665;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.068;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	9	0	1	0
chr6	134171072	134171072	C	T	exonic	SGK1	.	nonsynonymous SNV	SGK1:NM_001291995:exon9:c.G857A:p.G286D,SGK1:NM_001143677:exon10:c.G1073A:p.G358D,SGK1:NM_001143678:exon10:c.G1031A:p.G344D,SGK1:NM_005627:exon10:c.G989A:p.G330D,SGK1:NM_001143676:exon12:c.G1274A:p.G425D	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.0444944609108	.	0.000199681	6.592e-05	0	8.64e-05	0	0	1.499e-05	0.0011	0.0003	5.82e-05	9	154602	rs552502455	3.626e-05	3.625e-05	1.497e-05	5.776e-05	0.0005	2.828e-05	2.565e-05	0.0003	0.0003	0	0	0	0	0	0	8.993e-06	6.623e-05	0.0005	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.003	0.68238	D	0.026	0.64786	D	0.971	0.65571	D	0.788	0.63708	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.825	0.20901	L	-0.85	0.74371	T	-4.56	0.78636	D	0.826	0.83371	-0.2067	0.77499	T	0.408	0.75734	T	10	0.7106863	0.73024	D	0.044494	0.61517	D	0.702	0.89284	0.566	0.68768	0.782791714654	0.78078	0.8354687892861793	0.83506	1.83023166883	0.92039	0.872366189957	0.92905	D	0.506982	0.82493	D	0.0885815	0.63029	D	0.225724	0.84460	D	0.45173321323263	0.30860	T	0.89921	0.64678	D	0.88661176	0.90219	0.8159419	0.89279	0.88661176	0.90220	0.8159419	0.89280	-12.798	0.89842	D	.	.	0.555	0.70767	A	.;.;.;.;.;.	.;.;.;.;.;.	5.117285	0.85582	28.6	0.99836444143805259	0.91714	0.98571	0.84224	D	AEFDBHCIJ	0.964448	0.98658	D	0.698379798962617	0.79527	7.096245	0.749189720127464	0.86097	8.781333	1.0	0.98316	0.719381	0.83141	0	0.670034	0.63936	0	0.723133	0.82415	0	0.638787	0.57140	0	.	.	5.77	5.77	0.91077	7.905000	0.86479	4.923000	0.46060	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.983	0.97336	826	0.39940	.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1425.43	43	chr6	134171072	.	C	T	1425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.522;DP=437;ExcessHet=0;FS=0.668;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.927;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr6	134942426	134942426	C	T	exonic	ALDH8A1	.	nonsynonymous SNV	ALDH8A1:NM_001193480:exon3:c.G425A:p.R142Q,ALDH8A1:NM_022568:exon3:c.G425A:p.R142Q,ALDH8A1:NM_170771:exon3:c.G425A:p.R142Q	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.0620562172554	.	.	2.493e-05	0	8.642e-05	0	0	0	0	0.0001	1.94e-05	3	154602	rs755263036	2.738e-05	2.805e-05	1.77e-05	3.716e-05	0.0002	2.064e-05	1.817e-05	0.0001	9.462e-05	0	0.0002	0	0	0	0	1.17e-05	1.657e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	5.287e-05	2.835e-05	0	0	0.0002	0	0	0	0	0	0	0.0002	0.022	0.49613	D	0.007	0.72224	D	0.998	0.73220	D	0.826	0.59373	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.595	0.75868	M	-1.3	0.79571	T	-3.22	0.64939	D	0.935	0.94077	0.016	0.82576	D	0.515	0.81840	D	10	0.9572629	0.95099	D	0.062056	0.68530	D	0.510	0.78971	0.754	0.88402	0.714550520427	0.71205	0.9330387993663011	0.93282	0.472014145769	0.46445	0.462828427553	0.33699	T	0.503767	0.82312	D	-0.0356227	0.46597	T	0.00320278	0.70545	D	0.530574598382837	0.33755	D	0.923508	0.72088	D	0.55277526	0.70110	0.3752517	0.62673	0.55277526	0.70111	0.3752517	0.62673	-8.96	0.67439	D	.	.	0.239	0.47261	B	.;.;.	.;.;.	4.282128	0.65240	24.8	0.9979585171335793	0.88106	0.98567	0.84178	D	AEFDI	0.925609	0.90544	D	0.175893626827635	0.50044	3.198247	0.0554069266244973	0.42333	2.558757	0.999922180828423	0.46280	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.32	4.46	0.53567	7.858000	0.85341	3.273000	0.37174	-0.176000	0.10722	1.000000	0.71638	0.997000	0.33255	0.016000	0.10718	0.0:0.9266:0.0:0.0734	13.925	0.63464	879	0.29470	Aldehyde dehydrogenase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1029.43	34	chr6	134942426	.	C	T	1029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3;DP=408;ExcessHet=0;FS=0.829;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.354;SOR=0.84	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	9	0	1	0
chr6	136362638	136362655	GGCTGGAGCTGGGGCCGA	-	exonic	MAP7	.	nonframeshift deletion	MAP7:NM_001198617:exon9:c.1039_1056del:p.S347_A352del,MAP7:NM_001198611:exon10:c.1276_1293del:p.S426_A431del,MAP7:NM_001198616:exon10:c.1210_1227del:p.S404_A409del,MAP7:NM_001198608:exon11:c.1387_1404del:p.S463_A468del,MAP7:NM_001198609:exon11:c.1411_1428del:p.S471_A476del,MAP7:NM_001198615:exon11:c.1276_1293del:p.S426_A431del,MAP7:NM_001198618:exon11:c.883_900del:p.S295_A300del,MAP7:NM_001198619:exon11:c.883_900del:p.S295_A300del,MAP7:NM_003980:exon11:c.1321_1338del:p.S441_A446del,MAP7:NM_001198614:exon12:c.1387_1404del:p.S463_A468del	.	402	1118	1	1	0	3	0.00133988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	.	0.0011	0.0006	0.0003	0.0054	0.0039	0.0007	0.0012	0.0003	3.84e-05	1	26028	rs780805556	0.0005	0.0006	0.0005	0.0005	0.0036	0.0005	0.0005	0.0031	0.0029	0.0005	0.0006	3.833e-05	0.0036	0.0033	0.0002	0.0003	0.0015	0.0003	0.0011	0.0012	0.0009	0.0014	0.0068	0.0010	0.0009	0.0050	0.0044	0.0005	0	0.0011	0	0.0068	0.0059	0	0.0005	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	885.39	35	chr6	136362637	.	GGGCTGGAGCTGGGGCCGA	G	885.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.107;DP=419;ExcessHet=0;FS=2.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.079;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	9	0	1	0
chr6	136421738	136421738	A	C	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198608:exon2:c.T195G:p.I65M,MAP7:NM_001198609:exon2:c.T195G:p.I65M,MAP7:NM_001198611:exon2:c.T195G:p.I65M,MAP7:NM_001198615:exon2:c.T84G:p.I28M,MAP7:NM_001198616:exon2:c.T129G:p.I43M,MAP7:NM_001198617:exon2:c.T129G:p.I43M,MAP7:NM_003980:exon2:c.T129G:p.I43M,MAP7:NM_001198614:exon3:c.T195G:p.I65M	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00441954045039	0.0002	0.000399361	0.0004	0	0	0	0.0002	0.0002	0	0.0023	0.0003687	57	154602	rs371519444	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0016	0	0.0001	0	0	0.0001	0.0014	7.824e-05	0.0001	0.0020	9.188e-05	9.186e-05	0.0001	8.052e-05	0.0012	5.521e-05	4.36e-05	0.0005	0.0004	0	0	0.0001	0	0	9.414e-05	0	7.349e-05	0	0.0012	0.12	0.27904	T	0.116	0.37730	T	0.372	0.34134	B	0.32	0.41729	B	0.397606	0.04515	N	1.405070	0.969944	0.38763	D	1.61	0.41143	L	2.57	0.13552	T	0.1	0.11728	N	0.169	0.30118	-1.0070	0.27850	T	0.015	0.06138	T	10	0.010475606	0.00233	T	0.00442	0.10812	T	0.055	0.15663	.	.	0.260580752073	0.25663	0.085169854555567	0.08450	0.20250170241	0.22669	0.328710347414	0.14739	T	0.01482	0.32637	T	-0.636435	0.00087	T	-0.693447	0.06192	T	0.0286516948651623	0.01784	T	0.823018	0.52486	T	0.044126198	0.07000	0.04996262	0.07742	0.044126198	0.07000	0.04996262	0.07742	-4.25	0.32830	T	.	.	0.095	0.16275	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.312804	0.29604	18.18	0.8920844573909591	0.18601	0.65159	0.32645	D	AEFDBHCIJ	0.233949	0.35679	N	-0.33652129424532	0.27770	1.526324	-0.270172650537408	0.29087	1.626802	0.999998797032947	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	5.63	3.19	0.35720	2.981000	0.49019	3.467000	0.38554	0.756000	0.94297	0.986000	0.36153	0.962000	0.29361	0.900000	0.43643	0.745:0.1684:0.0866:0.0	5.804	0.17693	709	0.56835	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	686.43	36	chr6	136421738	.	A	C	686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.823;DP=394;ExcessHet=0;FS=1.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-2.303;SOR=0.67	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	9	0	1	0
chr6	138404520	138404520	C	T	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326381:exon1:c.C25T:p.P9S,HEBP2:NM_014320:exon1:c.C25T:p.P9S	.	444	1067	11	0	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.000998403	0.0114	0	0	0	.	0.0577	.	0.0037	0.0004592	71	154602	rs534012762	0.0057	0.0049	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0014	0.0073	3.705e-05	0.0015	0.0059	0.0063	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0048	0.0034	0.0033	0.0044	0.0042	0.0012	0.0833	0.0022	0.0063	0	0.0024	0.0034	0.0048	0.0019	0.0029	0.331	0.13088	T	0.535	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	0.488886	0.05024	N	1.355200	1	0.08975	N	0.69	0.16971	N	.	.	.	0.23	0.04613	N	0.081	0.06454	-0.9953	0.31218	T	0.011	0.04181	T	10	0.0024902225	0.00037	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.4642122900808919	0.46340	0.0449599093349	0.04864	0.670815944672	0.62954	T	0.008932	0.08161	T	-0.620581	0.00109	T	-0.665036	0.07931	T	0.0324723263188649	0.02384	T	0.430757	0.11694	T	0.023709381	0.01135	0.050705973	0.08014	0.023709381	0.01135	0.050705973	0.08013	-3.704	0.19377	T	.	.	0.076	0.05890	B	.;.	.;.	0.255849	0.06345	2.809	0.90006153036151082	0.19296	0.02469	0.06929	N	ALL	0.035778	0.04661	N	-1.34913558973648	0.03134	0.1395019	-1.37821957523217	0.03485	0.1626643	0.999999971033769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.92	1.03	0.19161	-0.105000	0.10876	0.131000	0.15046	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1702:0.5046:0.2109:0.1143	2.552	0.04462	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001276	0.000000	0.000000	0.004808	0.000000	0.000000	0.000000	0.000000	0.05	54.43	35	chr6	138404520	.	C	T	54.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.062;DP=225;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.2;ReadPosRankSum=0.284;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,4:17:66:66,0,356	9	0	1	0
chr6	138432084	138432084	G	C	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.C2273G:p.P758R,NHSL1:NM_001144060:exon6:c.C2261G:p.P754R	.	429	1086	7	0	0	7	0.00321248	.	.	.	2820732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.201	0.0145111183151	.	0.00179712	0.0032	0	0	0	0	0.0005	0	0.0075	0.0005304	82	154602	rs138276881	0.0007	0.0007	0.0005	0.0010	0.0081	0.0007	0.0007	0.0075	0.0073	6.33e-05	0.0003	0	2.798e-05	0	0.0033	0.0003	0.0008	0.0081	0.0005	0.0005	0.0004	0.0006	0.0093	0.0004	0.0004	0.0072	0.0064	2.405e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0005	0.0093	0.013	0.54683	D	0.079	0.42086	T	0.993	0.65571	D	0.878	0.62312	P	0.000077	0.52346	D	0.132386	0.999646	0.48019	D	2.91	0.84121	M	1.16	0.38073	T	-4.78	0.80510	D	0.37	0.41162	-0.9291	0.44270	T	0.129	0.43726	T	10	0.007284969	0.00166	T	0.014511	0.34674	T	0.201	0.48592	.	.	0.231873229951	0.22792	0.17891690152936426	0.17810	.	.	0.393936961889	0.24222	T	0.094766	0.39483	T	-0.345096	0.05043	T	-0.263777	0.48445	T	0.183028155804875	0.19424	T	0.865513	0.57479	D	0.21879137	0.44395	0.2890722	0.54926	0.21879137	0.44395	0.2890722	0.54925	-5.916	0.45571	T	.	.	0.234	0.50572	B	.;.	.;.	4.397426	0.67920	25.2	0.99843194641176625	0.92316	0.99091	0.91093	D	AEFDBI	0.902680	0.85086	D	0.686859147772298	0.78771	6.939236	0.649816011252659	0.78596	6.908374	0.999999999951225	0.74766	0.744818	0.98587	0	0.54472	0.11627	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	7.647000	0.82624	9.950000	0.82721	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.0765:0.0:0.9235:0.0	13.174	0.59037	892	0.26670	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003185	0.000000	0.000000	0.012397	0.000000	0.029412	0.000000	0.044444	0.1	2668.12	34	chr6	138432084	.	G	C	2668.12	.	AC=2;AF=0.1;AN=20;DP=553;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29;SOR=0.782	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	9	1	0	0
chr6	138432300	138432300	C	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G2057T:p.R686L,NHSL1:NM_001144060:exon6:c.G2045T:p.R682L	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0339049893189	0.0064	0.00179712	0.0038	0.0014	0.0074	0	0.0007	0.0074	0.0042	0.0011	0.0016559	256	154602	rs183135718	0.0068	0.0065	0.0070	0.0065	0.0080	0.0067	0.0066	0.0078	0.0078	0.0012	0.0061	0.0044	0	0.0008	0.0040	0.0080	0.0072	0.0011	0.0046	0.0045	0.0051	0.0040	0.0070	0.0043	0.0042	0.0065	0.0063	0.0019	0	0.0065	0.0040	0	0.0004	0.0136	0.0070	0.0090	0.0002	0.001	0.78490	D	0.085	0.41239	T	0.999	0.77913	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	3.285	0.90273	M	0.48	0.55945	T	-6.19	0.90332	D	0.568	0.59138	-0.5694	0.66039	T	0.253	0.62326	T	10	0.009147435	0.00207	T	0.033905	0.55311	D	0.202	0.48754	.	.	0.379881503574	0.37595	0.5972983626542986	0.59660	.	.	0.537414193153	0.44081	T	0.302394	0.67479	T	-0.210835	0.19261	T	-0.0685201	0.65731	T	0.0591558390010402	0.07034	T	0.956904	0.83579	D	0.61751527	0.73630	0.5793423	0.75620	0.61751527	0.73631	0.5793423	0.75621	-15.547	0.97001	D	.	.	0.627	0.69979	P	.;.	.;.	4.332650	0.66407	25.0	0.99861648298551686	0.94002	0.98465	0.83062	D	AEFBI	0.764839	0.70150	D	0.680843647361987	0.78376	6.859369	0.629613894918174	0.77101	6.614854	0.999999963304258	0.74766	0.706548	0.73137	0	0.54472	0.11627	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.37	0.51830	4.574000	0.60613	2.760000	0.34598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.9236:0.0:0.0764	13.227	0.59345	892	0.26670	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005376	0.015789	0.000000	0.004237	0.071429	0.000000	0.000000	0.000000	0.05	940.43	64	chr6	138432300	.	C	A	940.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=599;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-1.362;SOR=0.653	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	9	0	1	0
chr6	138473353	138473353	G	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_001144060:exon3:c.C292T:p.P98S,NHSL1:NM_020464:exon3:c.C436T:p.P146S	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00383156465049	0.0037	0.00119808	0.0020	0.0009	0	0	0	0.0035	0.0042	0.0013	0.0006921	107	154602	rs201780864	0.0031	0.0030	0.0031	0.0030	0.0093	0.0030	0.0030	0.0073	0.0066	0.0004	0.0025	0.0024	0	0.0007	0.0093	0.0035	0.0041	0.0012	0.0023	0.0023	0.0024	0.0022	0.0034	0.0021	0.0020	0.0030	0.0029	0.0010	0.0099	0.0027	0.0023	0	0.0005	0.0136	0.0034	0.0033	0.0012	0.215	0.21801	T	0.548	0.10785	T	0.001	0.07471	B	0.002	0.08700	B	0.012534	0.29142	N	0.390782	0.979379	0.25186	N	1.4	0.35362	L	1.23	0.36872	T	-2.62	0.63207	D	0.06	0.13055	-1.0072	0.27789	T	0.016	0.06664	T	10	0.0033589303	0.00058	T	0.003832	0.08961	T	0.054	0.15330	.	.	0.0401082797425	0.02173	0.14422849197835866	0.14345	.	.	0.292442917824	0.09278	T	0.011375	0.29960	T	-0.541817	0.00327	T	-0.55411	0.16933	T	0.0191748720763091	0.00624	T	0.662834	0.28519	T	0.028806757	0.02275	0.052949004	0.08825	0.028806757	0.02275	0.052949004	0.08825	-1.247	0.01829	T	.	.	0.072	0.04436	B	.;.;.;.	.;.;.;.	0.726152	0.10952	7.618	0.67345597212008468	0.08327	0.61867	0.31610	D	AEFBI	0.067178	0.13194	N	-0.710262116777375	0.15732	0.7954531	-0.593022865051781	0.19673	1.05663	0.767519204967811	0.23613	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	1.12	0.19700	0.810000	0.26841	1.735000	0.28356	-0.718000	0.03832	1.000000	0.71638	0.983000	0.30585	0.033000	0.13494	0.2696:0.1535:0.4184:0.1585	1.042	0.01463	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009174	0.015957	0.006173	0.000000	0.000000	0.045455	0.027778	0.000000	0.05	1781.43	40	chr6	138473353	.	G	A	1781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.359;DP=471;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.084;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	9	0	1	0
chr6	139242800	139242800	G	A	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.C1781T:p.P594L	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0082	0.00519169	0.0085	0.0014	0.0041	0	0.0094	0.0104	0.0044	0.0130	0.0085057	1315	154602	rs142843391	0.0097	0.0097	0.0094	0.0100	0.0198	0.0095	0.0095	0.0168	0.0157	0.0014	0.0041	0.0161	2.519e-05	0.0087	0.0198	0.0100	0.0097	0.0138	0.0070	0.0071	0.0075	0.0066	0.0137	0.0067	0.0066	0.0110	0.0101	0.0017	0	0.0035	0.0158	0	0.0088	0.0204	0.0105	0.0066	0.0137	0.121	0.27783	T	0.15	0.32461	T	0.003	0.11197	B	0.003	0.08700	B	0.112033	0.02648	N	1.828980	1	0.08975	N	1.61	0.41143	L	2.36	0.16089	T	-2.6	0.55983	D	0.061	0.03283	-0.9766	0.35772	T	0.007	0.02598	T	9	0.00434196	0.00088	T	.	.	.	0.009	0.00846	.	.	0.117506650769	0.11410	0.10405901791647389	0.10335	0.0776381010885	0.08735	0.28201675415	0.07775	T	0.006405	0.05833	T	-0.726782	0.00025	T	-0.805072	0.01779	T	0.00267633473456065	0.00028	T	0.344066	0.07525	T	0.032116443	0.03176	0.04711767	0.06716	0.032116443	0.03175	0.04711767	0.06715	-5.056	0.37442	T	.	.	0.067	0.02488	B	.	.	0.186468	0.05734	2.177	0.46548963698285656	0.03737	0.10788	0.16193	N	AEFBI	0.181520	0.30884	N	-1.26363731614048	0.04122	0.1854551	-1.25041412218816	0.05125	0.2434541	0.00302891155545131	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.04	0.988	0.18914	-0.342000	0.07848	-0.521000	0.08690	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1898:0.159:0.4872:0.1639	1.732	0.02757	532	0.73501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.010870	0.017544	0.000000	0.043103	0.009146	0.018939	0.05	883.43	38	chr6	139242800	.	G	A	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.4;ReadPosRankSum=-1.224;SOR=0.735	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr6	142075893	142075893	G	A	exonic	NMBR	.	nonsynonymous SNV	NMBR:NM_001324308:exon3:c.C484T:p.R162W,NMBR:NM_001324307:exon4:c.C484T:p.R162W,NMBR:NM_002511:exon4:c.C928T:p.R310W	.	433	1065	24	0	0	24	0.0111421	.	.	.	699344	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.392	0.0443608226075	0.0048	0.00319489	0.0046	0.0016	0.0042	0.0001	0.0023	0.0066	0.0044	0.0024	0.0046118	713	154602	rs142626832	0.0057	0.0057	0.0057	0.0056	0.0083	0.0056	0.0055	0.0064	0.0063	0.0010	0.0048	0.0046	0	0.0029	0.0083	0.0064	0.0060	0.0023	0.0044	0.0044	0.0047	0.0042	0.0079	0.0042	0.0040	0.0068	0.0063	0.0010	0	0.0079	0.0032	0.0004	0.0009	0.0068	0.0068	0.0057	0.0023	0.001	0.78490	D	0.029	0.54541	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	1.18	0.37746	T	-2.34	0.51811	N	0.936	0.94196	-0.7555	0.57646	T	0.156	0.48824	T	10	0.03532988	0.01777	T	0.044361	0.61452	D	0.392	0.70764	.	.	0.804686868852	0.80285	0.8196599033719563	0.81922	0.306287977142	0.32927	0.715474963188	0.69387	T	0.35663	0.72345	T	-0.0837222	0.39107	T	0.110409	0.77600	D	0.0728350477732559	0.09043	T	0.918408	0.70674	D	0.5702802	0.71076	0.59424245	0.76447	0.5702802	0.71077	0.59424245	0.76448	-10.551	0.77139	D	.	.	0.720	0.73784	P	.	.	4.135081	0.61910	24.4	0.99905509036723072	0.97651	0.86661	0.45989	D	AEFDCI	0.803252	0.72845	D	0.380703883405565	0.60376	4.225956	0.270218235454805	0.53809	3.54804	0.0607733084802156	0.15208	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.31	0.912	0.18476	1.996000	0.40396	0.884000	0.22419	0.670000	0.69193	1.000000	0.71638	0.999000	0.35428	0.973000	0.55318	0.0:0.0:0.4259:0.5741	15.314	0.73770	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.010101	0.013587	0.014620	0.000000	0.008621	0.006098	0.000000	0.1	3338.14	33	chr6	142075893	.	G	A	3338.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.68;DP=555;ExcessHet=0.2348;FS=0.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.66;SOR=0.655	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1456	8	0	2	0
chr6	142415911	142415911	C	T	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon19:c.C2701T:p.L901F,ADGRG6:NM_001032395:exon19:c.C2701T:p.L901F,ADGRG6:NM_020455:exon20:c.C2785T:p.L929F,ADGRG6:NM_198569:exon20:c.C2785T:p.L929F	Lethal congenital contracture syndrome 9, Autosomal recessive	429	1063	28	2	0	32	0.0148285	.	.	.	710216	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.382	.	0.0013	0.00439297	0.0030	0.0001	0.0015	0	0	0.0022	0.0078	0.0116	0.0028525	441	154602	rs186655757	0.0020	0.0020	0.0017	0.0023	0.0127	0.0019	0.0019	0.0103	0.0098	0.0004	0.0020	0.0002	0	0.0002	0.0127	0.0014	0.0028	0.0106	0.0019	0.0019	0.0015	0.0023	0.0110	0.0017	0.0016	0.0086	0.0078	0.0003	0.0011	0.0054	0.0006	0	9.429e-05	0.0068	0.0017	0.0066	0.0110	0.038	0.44029	D	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000014	0.62929	D	0.000000	1	0.81001	D	.	.	.	1.07	0.39586	T	-3.71	0.70674	D	0.491	0.53006	-0.6123	0.64308	T	0.251	0.62108	T	10	0.020136267	0.00459	T	.	.	.	0.382	0.69946	.	.	0.439551795455	0.43578	0.6790257753278311	0.67841	0.582222379871	0.53986	0.513044834137	0.40648	T	0.371903	0.73618	T	-0.105586	0.35500	T	0.0849509	0.75908	D	0.0733345355968421	0.09111	T	0.79622	0.44234	T	0.23291788	0.46088	0.26195386	0.51980	0.2693197	0.50004	0.29664806	0.55697	-7.675	0.59049	D	.	.	0.202	0.42606	B	.;.;.;.	.;.;.;.	2.723302	0.35625	19.95	0.99877375110024558	0.95410	0.97492	0.75099	D	AEFBI	0.851761	0.76863	D	0.64390101101507	0.75975	6.401847	0.553391529432174	0.71634	5.684729	1.0	0.98316	0.730579	0.87903	0	0.573888	0.26702	0	0.602189	0.34648	0	0.648885	0.59868	0	.	.	5.4	5.4	0.77957	3.889000	0.55925	2.715000	0.34266	-0.175000	0.10903	0.998000	0.41325	0.993000	0.31925	0.229000	0.22707	0.0:1.0:0.0:0.0	19.524	0.95191	720	0.55521	GPCR, family 2-like;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.017663	0.008772	0.000000	0.000000	0.042683	0.007576	0.05	1602.43	38	chr6	142415911	.	C	T	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.357;DP=442;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.22;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	9	0	1	0
chr6	142772933	142772933	C	A	exonic	HIVEP2	.	nonsynonymous SNV	HIVEP2:NM_006734:exon5:c.G1806T:p.Q602H	Mental retardation, autosomal dominant 43, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00391851979454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.398	0.15109	T	0.017	0.17573	B	0.005	0.11217	B	0.000497	0.43931	D	0.238525	0.969157	0.38708	D	1.67	0.42885	L	2.78	0.11298	T	-0.65	0.18877	N	0.291	0.37093	-0.9921	0.32063	T	0.008	0.02679	T	10	0.088941425	0.15362	T	0.003919	0.09242	T	0.190	0.46781	0.157	0.06070	0.311241185304	0.30733	0.444519559316982	0.44369	0.219569769292	0.24499	0.510526120663	0.40296	T	0.095272	0.39587	T	-0.171882	0.24951	T	-0.484673	0.23951	T	0.118793914684097	0.14312	T	0.822218	0.48193	T	0.048381638	0.08423	0.04431012	0.05711	0.048381638	0.08422	0.04431012	0.05711	-3.901	0.22318	T	0.14854143824153845	0.17302	0.162	0.35849	B	.;.;.	.;.;.	0.876305	0.12494	9.025	0.97547821338931995	0.34550	0.56237	0.30066	D	AEFBI	0.070777	0.14062	N	-0.5718932350968	0.19803	1.039263	-0.481481603186908	0.22664	1.232128	0.858431550932286	0.25179	0.651	0.46895	0	0.577304	0.33150	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.48	2.67	0.30756	-0.394000	0.07357	0.239000	0.16284	0.599000	0.40250	0.180000	0.24064	0.978000	0.30204	0.094000	0.17991	0.1203:0.5459:0.0:0.3339	5.846	0.17917	525	0.74024	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	55.43	39	chr6	142772933	.	C	A	55.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.746;DP=536;ExcessHet=0;FS=85.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=1.31;SOR=6.517	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr6	143937672	143937672	G	T	exonic	ZC2HC1B	.	stopgain	ZC2HC1B:NM_001013623:exon7:c.G622T:p.G208X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs777789592	8.579e-06	8.209e-06	0	1.74e-05	0.0001	4.58e-06	3.61e-06	5.84e-05	4.363e-05	0	0	0	0	0	0	2.781e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999874	0.50225	A	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331828	0.85291	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.556282	0.99068	42	0.99418034694991608	0.63645	0.86388	0.45658	D	AEFDBHCIJ	0.082636	0.16735	N	1.04471147122662	0.96963	15.38982	0.889343056539138	0.95091	13.30336	0.999999624690043	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.13	5.13	0.69729	2.957000	0.48830	6.972000	0.57094	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.265	0.65662	887	0.27948	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1173.43	42	chr6	143937672	.	G	T	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.27;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=2.24;SOR=0.657	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1036	9	0	1	0
chr6	143941821	143941821	T	G	exonic	PLAGL1	.	nonsynonymous SNV	PLAGL1:NM_001317157:exon3:c.A995C:p.E332A,PLAGL1:NM_001317158:exon3:c.A839C:p.E280A,PLAGL1:NM_001289038:exon4:c.A839C:p.E280A,PLAGL1:NM_001289047:exon4:c.A995C:p.E332A,PLAGL1:NM_001317156:exon4:c.A995C:p.E332A,PLAGL1:NM_001289037:exon5:c.A839C:p.E280A,PLAGL1:NM_001289039:exon5:c.A839C:p.E280A,PLAGL1:NM_001289042:exon5:c.A995C:p.E332A,PLAGL1:NM_001080955:exon6:c.A839C:p.E280A,PLAGL1:NM_001080956:exon6:c.A839C:p.E280A,PLAGL1:NM_001289040:exon6:c.A839C:p.E280A,PLAGL1:NM_001289041:exon6:c.A839C:p.E280A,PLAGL1:NM_001289044:exon6:c.A995C:p.E332A,PLAGL1:NM_001289049:exon6:c.A995C:p.E332A,PLAGL1:NM_001317160:exon6:c.A839C:p.E280A,PLAGL1:NM_001080952:exon7:c.A995C:p.E332A,PLAGL1:NM_001080953:exon7:c.A995C:p.E332A,PLAGL1:NM_001080954:exon7:c.A995C:p.E332A,PLAGL1:NM_001289043:exon7:c.A995C:p.E332A,PLAGL1:NM_001289045:exon7:c.A995C:p.E332A,PLAGL1:NM_001289048:exon7:c.A995C:p.E332A,PLAGL1:NM_001317161:exon7:c.A995C:p.E332A,PLAGL1:NM_006718:exon7:c.A995C:p.E332A,PLAGL1:NM_001080951:exon8:c.A995C:p.E332A,PLAGL1:NM_001317159:exon8:c.A995C:p.E332A,PLAGL1:NM_001317162:exon8:c.A995C:p.E332A,PLAGL1:NM_001289046:exon9:c.A995C:p.E332A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0113607948419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.28	0.92824	T	0.264	0.31602	B	0.057	0.26280	B	0.000192	0.48115	N	0.092055	0.959292	0.38119	D	1.955	0.52871	M	2.9	0.10101	T	-2.16	0.48850	N	0.398	0.58543	-1.0502	0.14341	T	0.007	0.02360	T	10	0.15457955	0.29155	T	0.011361	0.28906	T	0.063	0.18251	0.253	0.19223	0.250512400709	0.24649	0.2814869814286308	0.28061	1.1607949559	0.79478	0.37343069911	0.21323	T	0.272245	0.64462	T	-0.207795	0.19691	T	-0.536259	0.18666	T	0.824608325958252	0.48117	D	0.79572	0.56927	T	0.1710014	0.37708	0.10296994	0.24694	0.1710014	0.37708	0.10296994	0.24694	-3.578	0.17539	T	.	.	0.765	0.75723	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.629628	0.51407	23.1	0.96073074093428856	0.28629	0.90814	0.52311	D	AEFDBCI	0.609851	0.59890	D	-0.231435109467928	0.31850	1.790142	-0.038461257489482	0.37994	2.232208	0.658591088995926	0.22245	0.706298	0.61202	0	0.709663	0.81188	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.064000	0.41059	6.144000	0.54095	0.609000	0.47794	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0779:0.0:0.9221	9.587	0.38686	869	0.31655	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1525.43	34	chr6	143941821	.	T	G	1525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.228;DP=431;ExcessHet=0;FS=1.429;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.385;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	9	0	1	0
chr6	144514815	144514815	G	A	exonic	UTRN	.	nonsynonymous SNV	UTRN:NM_007124:exon36:c.G5239A:p.A1747T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.014112573537	.	.	8.324e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs775244898	2.603e-05	2.599e-05	1.772e-05	3.443e-05	0.0003	1.935e-05	1.695e-05	6.123e-05	2.533e-05	0	0	0.0010	0	0	0.0003	7.198e-06	1.658e-05	0	3.943e-05	3.94e-05	3.854e-05	4.036e-05	2.94e-05	1.716e-05	1.13e-05	4.88e-06	1.83e-06	0	0	0	0.0012	0	0	0	2.94e-05	0	0	0.013	0.53900	D	.	.	.	0.964	0.55854	D	0.817	0.58928	P	0.000362	0.45194	D	0.000000	0.933552	0.37058	D	2.52	0.73523	M	0.16	0.60610	T	-0.77	0.21429	N	0.32	0.36043	-0.6335	0.63422	T	0.221	0.58383	T	10	0.19010684	0.34639	T	0.014113	0.34004	T	0.173	0.43840	0.37	0.38013	0.549036597592	0.54559	0.4053724743957222	0.40453	0.292689891188	0.31689	0.513841986656	0.40759	T	0.167088	0.51358	T	-0.0212161	0.48680	T	-0.204606	0.54210	T	0.471565127372742	0.31588	T	0.825317	0.48765	T	0.10239075	0.24195	0.12909526	0.31046	0.10239075	0.24194	0.12909526	0.31046	-5.103	0.37939	T	.	.	0.130	0.27821	B	.	.	4.141901	0.62066	24.4	0.99899060896598513	0.97124	0.97075	0.72544	D	AEFBI	0.489727	0.52751	N	0.530752076564026	0.68919	5.283776	0.506589459097731	0.68434	5.219289	0.833066850525128	0.24728	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.34	4.44	0.53164	5.028000	0.63895	3.844000	0.40055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.7229:0.2771	13.880	0.63177	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	350.43	35	chr6	144514815	.	G	A	350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.676;DP=349;ExcessHet=0;FS=6.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.703;SOR=0.111	GT:AD:DP:GQ:PL	0/0:33,0:33:81:0,81,1215	9	0	1	0
chr6	146434399	146434399	G	C	exonic	GRM1	.	nonsynonymous SNV	GRM1:NM_001278064:exon8:c.G3188C:p.R1063P	Spinocerebellar ataxia, autosomal recessive 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2099446	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.397	0.0538102829395	.	0.000399361	0.0002	0	0	0.0027	0	0	0	0.0001	0.0002005	31	154602	rs200986171	8.35e-05	8.345e-05	8.717e-05	7.98e-05	0.0025	7.14e-05	6.688e-05	0.0021	0.0020	0	0	0	0.0025	0	0	1.079e-05	0	0.0001	5.909e-05	5.905e-05	5.139e-05	6.714e-05	0.0017	3.075e-05	2.208e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	0	0	0	0.283	0.15354	T	0.273	0.22154	T	0.001	0.07471	B	0.002	0.06944	B	0.008191	0.30970	N	0.227411	0.999893	0.31196	N	0.805	0.20218	L	-2.26	0.87352	D	-0.24	0.10833	N	0.13	0.12484	-0.5423	0.67077	T	0.374	0.73272	T	10	0.009864181	0.00221	T	0.05381	0.65616	D	0.397	0.71163	0.263	0.20788	0.86480216162	0.86348	0.578332343150052	0.57762	0.995063717223	0.74193	0.431662797928	0.29436	T	0.107504	0.41976	T	-0.251614	0.13901	T	-0.139129	0.60193	T	0.0568596915934417	0.06666	T	0.684232	0.29249	T	0.3190606	0.54560	0.37323287	0.62515	0.3190606	0.54560	0.37323287	0.62514	-2.134	0.03732	T	.	.	0.097	0.15921	B	.;.	.;.	3.197038	0.43459	21.7	0.95749365604670578	0.27721	0.90925	0.52522	D	AEFDBI	0.625427	0.60863	D	-0.0914099848455983	0.37769	2.202155	0.0798678140785294	0.43537	2.653435	0.9998288627723	0.43622	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.48	5.48	0.80675	3.800000	0.55241	9.619000	0.81102	0.590000	0.31872	0.992000	0.37556	1.000000	0.68203	0.949000	0.49496	0.074:0.0:0.926:0.0	13.689	0.62014	381	0.83684	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1520.43	81	chr6	146434399	.	G	C	1520.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.089;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:66,0:66:99:.:.:0,120,1800:.	9	0	1	0
chr6	147509202	147509202	A	C	exonic	SAMD5	.	nonsynonymous SNV	SAMD5:NM_001030060:exon1:c.A274C:p.T92P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.0163738	0.0017	0	0	0	0	0	0	0.0022	0.0005951	92	154602	rs535026861	0.0001	0.0001	7.94e-05	0.0001	0.0032	8.755e-05	8.185e-05	0.0027	0.0025	0	0	0	0	0	0.0006	3.137e-06	0.0003	0.0032	0.0001	9.909e-05	6.53e-05	0.0001	0.0033	6.108e-05	4.96e-05	0.0020	0.0016	0	0	0	0	0	0	0	0	0	0.0033	0.343	0.12592	T	0.319	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.123076	0.18932	N	0.468223	1	0.08975	N	0.145	0.08828	N	-0.12	0.64630	T	-0.63	0.18459	N	0.096	0.07673	-1.0076	0.27665	T	0.038	0.16290	T	10	0.0034871101	0.00062	T	.	.	.	0.032	0.07718	.	.	0.0666544352282	0.05500	0.5606711704743073	0.55994	0.75651630784	0.64033	0.835801005363	0.87453	D	0.002603	0.01994	T	-0.582137	0.00187	T	-0.61624	0.11483	T	0.0316566250643616	0.02250	T	0.270873	0.04565	T	0.11939647	0.28113	0.09556921	0.22673	0.11939647	0.28113	0.09556921	0.22672	-1.879	0.02755	T	.	.	0.040	0.00013	B	.	.	0.600874	0.09695	6.463	0.41392559403971729	0.02983	0.04287	0.09829	N	AEFDBHCI	0.128901	0.24686	N	-1.14140379182348	0.05922	0.2712988	-1.14479769735937	0.06862	0.3317542	0.999999529600154	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.621717	0.48901	0	.	.	3.93	0.394	0.15522	-0.596000	0.05816	0.099000	0.14623	0.552000	0.28158	0.000000	0.06391	0.067000	0.22148	0.019000	0.11356	0.267:0.4815:0.2515:0.0	5.415	0.15671	676	0.60355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004768	0.000000	0.000000	0.017857	0.000000	0.000000	0.007874	0.000000	0.05	316.43	35	chr6	147509202	.	A	C	316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.408;DP=294;ExcessHet=0;FS=2.929;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=0.106;SOR=0.573	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	9	0	1	0
chr6	148543716	148543716	C	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.C1529T:p.S510L,SASH1:NM_001346508:exon11:c.C2018T:p.S673L,SASH1:NM_001346509:exon11:c.C1895T:p.S632L,SASH1:NM_001346505:exon18:c.C2111T:p.S704L,SASH1:NM_015278:exon18:c.C2246T:p.S749L,SASH1:NM_001346506:exon19:c.C1874T:p.S625L	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00640577562844	0.0002	0.000998403	0.0007	0	0.0003	0	0	6.241e-05	0.0012	0.0067	0.0006468	100	154602	rs138913048	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	3.123e-05	2.541e-05	0	2.558e-05	0	0.0018	2.577e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	0	0	0	0	0	0	0.0102	4.41e-05	0	0.0054	0.071	0.35165	T	0.472	0.31527	T	0.001	0.07471	B	0.002	0.06944	B	0.033633	0.24874	N	0.439290	0.966398	0.38527	D	2.045	0.56016	M	1.08	0.39401	T	-2.36	0.52128	N	0.192	0.25253	-1.0389	0.17648	T	0.062	0.25923	T	10	0.004956901	0.00106	T	0.006406	0.16841	T	0.057	0.16321	.	.	0.619004339632	0.61592	0.3150039992461185	0.31413	0.131701140582	0.14851	0.410920679569	0.26585	T	0.025131	0.21720	T	-0.524104	0.00416	T	-0.524662	0.19824	T	0.047493846159901	0.05053	T	0.886911	0.61435	D	0.11728575	0.27653	0.08419998	0.19352	0.097044855	0.22867	0.08497029	0.19586	-5.259	0.39536	T	0.1646277008792782	0.20356	0.085	0.15832	B	.;.	.;.	2.750962	0.36054	20.1	0.99472638887301112	0.66419	0.96891	0.71503	D	AEFDBI	0.267913	0.38451	N	-0.15132286854229	0.35178	2.017341	-0.0761912689404787	0.36376	2.116221	0.999999931408953	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.83	4.83	0.61880	4.221000	0.58371	3.308000	0.37439	0.599000	0.40250	0.997000	0.40164	0.998000	0.33993	0.268000	0.23719	0.0:0.9122:0.0:0.0878	10.732	0.45302	956	0.09877	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.1	2292.14	36	chr6	148543716	.	C	T	2292.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.863;DP=467;ExcessHet=0.2348;FS=1.843;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.167;SOR=0.852	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	8	0	2	0
chr6	149378547	149378547	A	G	exonic	TAB2	.	nonsynonymous SNV	TAB2:NM_001292034:exon3:c.A632G:p.N211S,TAB2:NM_001292035:exon3:c.A536G:p.N179S,TAB2:NM_001369506:exon4:c.A632G:p.N211S,TAB2:NM_015093:exon5:c.A632G:p.N211S	Congenital heart defects, nonsyndromic, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0174232180529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.308	0.19845	T	0.993	0.65571	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	-0.73	0.73100	T	-0.76	0.21215	N	0.832	0.82761	-0.6069	0.64532	T	0.286	0.65763	T	10	0.41120163	0.56237	T	0.017423	0.39111	T	0.289	0.60808	0.142	0.04556	0.838873866338	0.83733	0.5868442608649261	0.58614	0.921335754619	0.71472	0.701119542122	0.67305	T	0.222447	0.58630	T	-0.0361796	0.46514	T	-0.289746	0.45798	T	0.672599494457245	0.39454	D	0.943606	0.78679	D	0.07764685	0.17636	0.09442277	0.22350	0.07764685	0.17635	0.09442277	0.22350	-3.035	0.10563	T	0.6447677205311815	0.71602	0.165	0.36335	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.94975233418001004	0.25908	0.99224	0.93061	D	AEGBI	.	.	.	0.18399020640354	0.50429	3.23311	0.184305151337975	0.48988	3.107472	0.999995086728048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.96	4.81	0.61401	8.718000	0.91150	11.270000	0.91373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.9329:0.0:0.0671:0.0	12.018	0.52617	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	369.45	255	chr6	149378547	.	A	G	369.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.947;DP=1056;ExcessHet=0.7463;FS=165.392;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=2.26;SOR=10.473	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	7	0	3	0
chr6	149451015	149451015	G	T	exonic	ZC3H12D	.	nonsynonymous SNV	ZC3H12D:NM_207360:exon6:c.C1252A:p.R418S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.130713132173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1156994944	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	0.09264	T	0.851	0.03497	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.54	0.30133	T	0.43	0.03297	N	0.064	0.03613	-1.0092	0.27167	T	0.011	0.04042	T	9	0.043053687	0.03115	T	0.130713	0.81290	D	0.026	0.05648	0.407	0.44066	0.043077524339	0.03247	0.18436136263063996	0.18355	1.10467441802	0.77849	0.537124276161	0.44040	T	0.004372	0.03778	T	-0.34767	0.04875	T	-0.737181	0.04010	T	0.0548048887784597	0.06324	T	0.332367	0.07003	T	0.0834783	0.19278	0.068219036	0.14216	0.0834783	0.19278	0.068219036	0.14216	-3.647	0.18539	T	.	.	0.106	0.19679	B	.	.	-0.462783	0.01989	0.174	0.91745948677537414	0.21045	0.01480	0.04926	N	AEFDGBHCI	0.048449	0.08269	N	-1.54653482695376	0.01555	0.06792362	-1.67171193664577	0.01268	0.05715112	0.999999999641245	0.74766	0.59774	0.34471	0	0.577304	0.33150	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.01	-6.02	0.02008	-2.613000	0.00957	-5.096000	0.01851	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3398:0.3209:0.2195:0.1198	1.727	0.02748	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	463.43	40	chr6	149451015	.	G	T	463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=349;ExcessHet=0;FS=5.012;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.177;SOR=0.223	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,101,1275	9	0	1	0
chr6	149789999	149789999	G	A	exonic	PCMT1	.	nonsynonymous SNV	PCMT1:NM_001252051:exon3:c.G307A:p.A103T,PCMT1:NM_001252049:exon4:c.G412A:p.A138T,PCMT1:NM_001252053:exon4:c.G412A:p.A138T,PCMT1:NM_001360452:exon4:c.G238A:p.A80T,PCMT1:NM_001360456:exon4:c.G238A:p.A80T,PCMT1:NM_005389:exon4:c.G412A:p.A138T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0295737398198	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	6.852e-07	6.84e-07	0	1.377e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.31235	T	0.136	0.34009	T	0.086	0.24919	B	0.023	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	1.95	0.22474	T	-1.21	0.30762	N	0.719	0.72120	-1.0656	0.10409	T	0.070	0.28544	T	10	0.4268556	0.57232	T	0.029574	0.52060	D	0.219	0.51417	0.399	0.42753	0.522664700966	0.51911	0.8817495041670186	0.88142	0.872773600911	0.69459	0.811635971069	0.83743	D	0.141042	0.47589	T	0.0985175	0.64132	D	-0.0962629	0.63686	T	0.968655049800873	0.68318	D	0.958704	0.84742	D	0.62158465	0.73848	0.5588725	0.74480	0.62158465	0.73849	0.5588725	0.74480	-9.334	0.69821	D	.	.	0.278	0.61171	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.029180	0.59562	24.1	0.99780147328585533	0.86693	0.99566	0.97511	D	AEFDBI	0.942526	0.94722	D	0.21264749090221	0.51813	3.359596	0.413581407135128	0.62410	4.455927	0.999999998573653	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	9.346000	0.96459	9.756000	0.81491	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.575	0.99368	648	0.63242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	33	chr6	149789999	.	G	A	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.401;DP=428;ExcessHet=0;FS=45.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=0.675;SOR=5.418	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr6	150389354	150389354	G	A	exonic	IYD	.	startloss	IYD:NM_001164694:exon2:c.G181A:p.A61T,IYD:NM_001164695:exon2:c.G181A:p.A61T,IYD:NM_001318495:exon2:c.G3A:p.M1?,IYD:NM_203395:exon2:c.G181A:p.A61T	Thyroid dyshormonogenesis 4, Autosomal recessive	3	1479	38	2	0	42	0.014	.	.	.	721796	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0012	0.00159744	0.0029	0.0002	0.0005	0.0002	0.0035	0.0016	0.0078	0.0122	0.0025161	389	154602	rs144193430	0.0021	0.0021	0.0017	0.0024	0.0127	0.0020	0.0020	0.0120	0.0118	0.0002	0.0007	0.0049	5.042e-05	0.0034	0.0085	0.0012	0.0025	0.0127	0.0018	0.0018	0.0014	0.0021	0.0158	0.0016	0.0015	0.0129	0.0119	0.0002	0	0.0014	0.0046	0.0004	0.0020	0.0137	0.0016	0.0028	0.0158	0.579	0.06049	T	0.584	0.08565	T	0.001	0.09854	B	0.001	0.06944	B	0.721854	0.09928	N	0.886530	0.997163	0.27117	N	1.59	0.40313	L	-2.13	0.86349	D	-0.02	0.07299	N	0.186	0.20395	-0.7583	0.57498	T	0.327	0.69538	T	10	0.0052779317	0.00139	T	.	.	.	0.136	0.36778	.	.	0.884877235316	0.88374	0.23092399812901218	0.23007	0.0592055756265	0.06579	0.238015964627	0.02614	T	0.022231	0.17174	T	-0.480227	0.00737	T	-0.451558	0.27525	T	0.0129155964144352	0.00222	T	0.520648	0.43505	T	0.040515486	0.05797	0.053523004	0.09033	0.040266983	0.05716	0.05825627	0.10733	-3.433	0.17125	T	.	.	0.070	0.05668	B	.;.;.;.;.;.	.;.;.;.;.;.	2.071575	0.26345	17.08	0.97923179626212065	0.36900	0.90815	0.52313	D	AEFBI	0.415524	0.48435	N	-0.237494783975278	0.31607	1.773902	-0.0906866889505324	0.35774	2.073705	0.00127860248535379	0.08400	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.4	4.53	0.55009	2.713000	0.46862	2.504000	0.33042	-0.106000	0.15538	0.997000	0.40164	0.535000	0.25384	0.942000	0.48361	0.1459:0.0:0.8541:0.0	10.780	0.45569	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	402.43	33	chr6	150389354	.	G	A	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.403;DP=338;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.937;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1317	9	0	1	0
chr6	150683817	150683817	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329798:exon1:c.C55T:p.R19C	.	428	1065	27	2	0	31	0.0143452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0103	0	0.0109	0	.	0.0012	0	0.0142	0.0008538	132	154602	rs140748525	0.0012	0.0010	0.0007	0.0017	0.0120	0.0012	0.0011	0.0114	0.0111	8.21e-05	0.0002	0.0003	0	7.914e-05	0.0112	0.0003	0.0022	0.0120	0.0006	0.0006	0.0005	0.0007	0.0088	0.0005	0.0005	0.0067	0.0059	0.0002	0	0.0003	0	0.0002	0	0.0034	0.0005	0.0009	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2954.14	33	chr6	150683817	.	C	T	2954.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=522;ExcessHet=0.2348;FS=0.479;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.492;SOR=0.749	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	8	0	2	0
chr6	150809435	150809435	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon7:c.G1033A:p.V345I,PLEKHG1:NM_001329798:exon9:c.G1327A:p.V443I,PLEKHG1:NM_001329799:exon9:c.G1270A:p.V424I,PLEKHG1:NM_001329800:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001329801:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001329802:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001329806:exon9:c.G1150A:p.V384I,PLEKHG1:NM_001029884:exon10:c.G1150A:p.V384I,PLEKHG1:NM_001329805:exon10:c.G1150A:p.V384I,PLEKHG1:NM_001329804:exon11:c.G1150A:p.V384I	.	425	1096	0	1	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.0290847254055	.	.	2.472e-05	0	0	0.0001	0	2.998e-05	0	0	1.94e-05	3	154602	rs775628646	3.558e-05	3.557e-05	3.676e-05	3.438e-05	5.038e-05	2.763e-05	2.502e-05	2.828e-05	2.507e-05	2.987e-05	4.472e-05	0	5.038e-05	0	0	3.777e-05	6.624e-05	1.159e-05	2.63e-05	2.627e-05	2.57e-05	2.692e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.11	0.29158	T	0.0	0.92824	D	0.971	0.57185	D	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.305	0.32671	L	-1.96	0.85091	D	-0.92	0.24676	N	0.188	0.20528	0.119	0.84512	D	0.628	0.86956	D	10	0.3749794	0.53762	T	0.029085	0.51659	D	0.444	0.74657	0.461	0.52916	0.844846872285	0.84336	0.2123374119373331	0.21149	.	.	0.660893559456	0.61538	T	0.050644	0.28655	T	-0.0412105	0.45769	T	-0.100001	0.63398	T	0.244261480217318	0.22614	T	0.922708	0.71908	D	0.14030205	0.32375	0.21240288	0.45708	0.14030205	0.32375	0.21240288	0.45708	-6.613	0.51153	T	.	.	0.110	0.21049	B	.;.	.;.	4.387210	0.67679	25.1	0.99885446351303664	0.96049	0.98863	0.87857	D	AEFBI	0.837598	0.75522	D	0.717693843353111	0.80791	7.373475	0.750928592444481	0.86227	8.822123	0.999999999999985	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	8.002000	0.88029	5.143000	0.47720	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.020	0.97498	967	0.07127	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1229.43	82	chr6	150809435	.	G	A	1229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.2;DP=394;ExcessHet=0;FS=4.489;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.529;SOR=0.309	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr6	150831254	150831254	G	A	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon13:c.G2026A:p.A676T,PLEKHG1:NM_001329802:exon14:c.G2104A:p.A702T,PLEKHG1:NM_001329798:exon15:c.G2320A:p.A774T,PLEKHG1:NM_001329799:exon15:c.G2263A:p.A755T,PLEKHG1:NM_001329800:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001329801:exon15:c.G2143A:p.A715T,PLEKHG1:NM_001029884:exon16:c.G2143A:p.A715T	.	425	1073	20	4	0	28	0.0128795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0034	0.028754	0.0152	0.0016	0.0021	0.1465	0.0017	0.0041	0.0088	0.0147	0.0144371	2232	154602	rs79596384	0.0091	0.0091	0.0091	0.0092	0.1325	0.0090	0.0090	0.1295	0.1283	0.0013	0.0021	0.0012	0.1325	0.0013	0.0054	0.0050	0.0137	0.0168	0.0083	0.0084	0.0077	0.0090	0.1353	0.0079	0.0078	0.1270	0.1236	0.0015	0	0.0022	0.0014	0.1353	0.0005	0.0034	0.0051	0.0085	0.0203	1.0	0.00964	T	0.572	0.08746	T	0.001	0.07471	B	0.0	0.01387	B	0.694776	0.10144	N	0.885659	1	0.08975	N	-1.405	0.00592	N	0.33	0.58323	T	-0.86	0.23372	N	0.007	0.00055	-1.0098	0.26981	T	0.020	0.08407	T	10	0.0015370548	0.00017	T	.	.	.	0.023	0.04649	.	.	.	.	0.06310798256465852	0.06249	.	.	0.208453893661	0.00747	T	0.004097	0.03512	T	-0.767083	0.00014	T	-0.744818	0.03691	T	0.0019185261821764	0.00020	T	0.385761	0.09460	T	0.03489112	0.04004	0.044500437	0.05781	0.03489112	0.04004	0.044500437	0.05781	-3.454	0.15794	T	.	.	0.064	0.01909	B	.;.	.;.	-1.437036	0.00335	0.006	0.75896630633282236	0.11253	0.02693	0.07333	N	AEFBI	0.038027	0.05321	N	-1.52829799366686	0.01666	0.0728699	-1.52173222194463	0.02177	0.09975195	0.929668500685307	0.26977	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.636168	0.56350	0	.	.	5.61	-3.34	0.04635	-1.969000	0.01596	-4.017000	0.02391	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3227:0.3114:0.2663:0.0996	2.436	0.04209	960	0.08626	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.001359	0.000000	0.000000	0.017241	0.006098	0.015152	0.05	1525.43	99	chr6	150831254	.	G	A	1525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.457;DP=1037;ExcessHet=0;FS=3.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=0.758;SOR=0.742	GT:AD:DP:GQ:PL	0/0:106,0:106:99:0,120,1800	9	0	1	0
chr6	150840094	150840094	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329803:exon14:c.C3239T:p.T1080I,PLEKHG1:NM_001329802:exon15:c.C3317T:p.T1106I,PLEKHG1:NM_001329798:exon16:c.C3533T:p.T1178I,PLEKHG1:NM_001329799:exon16:c.C3476T:p.T1159I,PLEKHG1:NM_001329800:exon16:c.C3356T:p.T1119I,PLEKHG1:NM_001329801:exon16:c.C3356T:p.T1119I,PLEKHG1:NM_001029884:exon17:c.C3356T:p.T1119I	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.0111821	0.0049	9.662e-05	0	0	0	1.501e-05	0.0033	0.0356	0.0043337	670	154602	rs372279367	0.0022	0.0022	0.0013	0.0031	0.0343	0.0021	0.0021	0.0333	0.0328	0.0001	2.236e-05	0	0.0001	0	0.0026	3.058e-05	0.0025	0.0343	0.0013	0.0013	0.0007	0.0020	0.0404	0.0012	0.0011	0.0357	0.0339	4.809e-05	0	0	0	0.0002	0	0	1.47e-05	0.0014	0.0404	0.142	0.25457	T	0.305	0.20037	T	0.0	0.02946	B	0.001	0.04355	B	0.221707	0.16122	N	0.667620	1	0.08975	N	0.745	0.18958	N	0.2	0.60111	T	-2.32	0.51478	N	0.053	0.02462	-1.0397	0.17404	T	0.043	0.18535	T	10	0.0021669865	0.00031	T	.	.	.	0.071	0.20720	0.204	0.11936	0.644489828286	0.64155	0.15766450471524351	0.15687	.	.	0.284832179546	0.08176	T	0.008264	0.07601	T	-0.662554	0.00061	T	-0.698029	0.05933	T	0.0112750887601846	0.00166	T	0.628437	0.24364	T	0.054816864	0.10569	0.042915873	0.05221	0.054816864	0.10569	0.042915873	0.05220	-4.171	0.26330	T	.	.	0.069	0.03661	B	.;.	.;.	0.299665	0.06756	3.269	0.93045431646558463	0.22651	0.06046	0.12015	N	AEFDBI	0.073970	0.14813	N	-0.966185444812593	0.09332	0.4412698	-1.00183923985445	0.09745	0.4866181	0.749541724745575	0.23337	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	5.81	-0.456	0.11581	-1.058000	0.03593	-1.355000	0.05637	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.1058:0.3737:0.1897:0.3307	2.003	0.03260	951	0.11083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.007576	0.1	3192.12	34	chr6	150840094	.	C	T	3192.12	.	AC=2;AF=0.1;AN=20;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.24;SOR=0.797	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	1	0	0
chr6	151351264	151351264	G	T	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_001370346:exon2:c.G2558T:p.R853I,AKAP12:NM_144497:exon2:c.G2579T:p.R860I,AKAP12:NM_005100:exon4:c.G2873T:p.R958I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0099620581271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.52492	D	0.106	0.37872	T	0.196	0.32457	B	0.036	0.28749	B	0.377456	0.04399	N	1.454200	1	0.08975	N	1.15	0.29295	L	3.16	0.07711	T	-3.09	0.63438	D	0.124	0.14054	-0.9263	0.44673	T	0.005	0.01578	T	10	0.076340884	0.11912	T	0.009962	0.25923	T	0.014	0.01968	0.207	0.12356	0.28492961333	0.28089	0.13486757621778703	0.13410	0.46476200693	0.45935	0.174578428268	0.00054	T	0.272215	0.64459	T	-0.290656	0.09570	T	-0.655283	0.08587	T	0.199819579720497	0.20406	T	0.835216	0.50504	T	0.09325174	0.21896	0.08079742	0.18306	0.09325174	0.21896	0.08079742	0.18306	-3.513	0.16614	T	.	.	0.137	0.32226	B	.;.;.;.	.;.;.;.	1.219109	0.16129	12.34	0.9562673292356928	0.27403	0.09480	0.15226	N	AEFDBCI	0.048784	0.08360	N	-0.913624971222943	0.10523	0.5032529	-0.963857872835306	0.10603	0.535073	0.998375421432123	0.36850	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.06	0.21	0.14507	1.358000	0.33706	-0.059000	0.12448	0.676000	0.76740	0.818000	0.29961	0.000000	0.08366	0.184000	0.21420	0.52:0.1565:0.19:0.1335	1.524	0.02369	928	0.17405	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1806.43	82	chr6	151351264	.	G	T	1806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.716;DP=789;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.137;SOR=0.619	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	9	0	1	0
chr6	152148240	152148240	G	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_001347702:exon8:c.C1246G:p.L416V,SYNE1:NM_001347701:exon10:c.C1387G:p.L463V,SYNE1:NM_033071:exon136:c.C24568G:p.L8190V,SYNE1:NM_182961:exon137:c.C24781G:p.L8261V	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	274519	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0454524434625	.	0.000199681	7.435e-05	0	0	0	0	4.504e-05	0	0.0004	6.47e-05	10	154602	rs567391477	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0005	0.0005	2.988e-05	0	0	0	0	0.0002	0.0001	4.969e-05	0.0006	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.321	0.15047	T	0.035	0.53072	D	0.985	0.61118	D	0.783	0.57419	P	0.000222	0.47286	D	0.000000	0.99849	0.51308	D	1.96	0.53105	M	0.41	0.57100	T	-1.24	0.39887	N	0.413	0.67304	-0.8541	0.51682	T	0.168	0.50713	T	10	0.089764	0.15577	T	0.045452	0.61989	D	0.093	0.26882	.	.	0.53206879849	0.52855	0.4137263694901299	0.41288	0.462538365587	0.45786	0.521770715714	0.41875	T	0.143381	0.47946	T	-0.24971	0.14133	T	-0.253737	0.49447	T	0.136144042015076	0.15938	T	0.925008	0.72455	D	0.061074544	0.12605	0.075691976	0.16691	0.061074544	0.12605	0.075691976	0.16690	-5.45	0.41397	T	.	.	0.069	0.07507	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.706496	0.35366	19.88	0.96215953151699773	0.29069	0.97227	0.73442	D	AEFDBI	0.555688	0.56603	D	0.031960619798418	0.43312	2.626712	-0.0249136693927394	0.38593	2.275974	0.999997531332467	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.12	4.24	0.49486	4.103000	0.57517	7.298000	0.58079	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.298000	0.24452	0.0766:0.0:0.9234:0.0	13.424	0.60465	869	0.31655	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1564.43	39	chr6	152148240	.	G	C	1564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=468;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.489;SOR=0.885	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr6	152310431	152310431	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon88:c.C16771T:p.R5591C,SYNE1:NM_182961:exon89:c.C16984T:p.R5662C	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1511	7	0	4	11	0.00231099	.	.	.	268711	not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Arthrogryposis_multiplex_congenita_3,_myogenic_type|SYNE1-related_disorder|Intellectual_disability|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0032778,MedGen:C5193121,OMIM:618484|.|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.0747394446894	.	.	0.0007	0.0004	0.0003	0	0	0.0010	0	0.0006	0.0006339	98	154602	rs145899734	0.0006	0.0006	0.0006	0.0006	0.0036	0.0006	0.0006	0.0024	0.0020	0.0003	0.0007	0.0005	0	0.0001	0.0036	0.0007	0.0008	0.0005	0.0006	0.0006	0.0005	0.0007	0.0009	0.0005	0.0004	0.0007	0.0007	0.0001	0	0.0008	0	0	0	0	0.0009	0.0019	0.0004	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.968	0.71741	D	0.000008	0.62929	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.34	0.34841	T	-4.02	0.75297	D	0.248	0.32701	-0.5699	0.66019	T	0.284	0.65596	T	10	0.11012933	0.20572	T	0.074739	0.72116	D	0.310	0.63162	.	.	0.507928266286	0.50432	0.3026325838704886	0.30176	0.632827426536	0.57198	0.371376037598	0.21030	T	0.71194	0.91790	D	-0.0795272	0.39793	T	0.0566404	0.74023	D	0.0476017507632833	0.05072	T	0.990501	0.97142	D	0.21561357	0.43998	0.19910575	0.43777	0.21561357	0.43998	0.19910575	0.43776	-8.753	0.66093	D	.	.	0.084	0.09772	B	.;.;.	.;.;.	4.081962	0.60724	24.3	0.9993263535315039	0.99439	0.97288	0.73812	D	AEFBI	0.738954	0.68367	D	0.692491788489018	0.79140	7.015314	0.639927948192023	0.77861	6.761905	0.999999920426181	0.74766	0.475973	0.10046	0	0.547309	0.14657	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	6.06	6.06	0.98340	4.963000	0.63403	8.572000	0.77610	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	20.621	0.99492	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1537.43	36	chr6	152310431	.	G	A	1537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=465;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.27;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1194	9	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	326.48	164	chr6	152331115	.	C	G	326.48	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.324;DP=1368;ExcessHet=0.7463;FS=279.975;InbreedingCoeff=-0.2893;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=1.19;SOR=11.121	GT:AD:DP:GQ:PL	./.:114,0:114:0:0,0,2285	4	0	3	3
chr6	152387199	152387199	G	A	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon54:c.C8381T:p.T2794M,SYNE1:NM_182961:exon54:c.C8360T:p.T2787M	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	4	1517	1	0	0	1	0.000329489	.	.	.	266532	not_specified|SYNE1-related_disorder|not_provided|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|Autosomal_recessive_ataxia,_Beauce_type	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	0.0196976552992	0.0006	0.000599042	0.0006	9.612e-05	0	0	0	0.0003	0	0.0030	0.0005304	82	154602	rs142676206	0.0005	0.0005	0.0004	0.0006	0.0026	0.0005	0.0005	0.0023	0.0022	0.0002	8.944e-05	0	0	7.488e-05	0.0007	0.0004	0.0005	0.0026	0.0003	0.0003	0.0003	0.0003	0.0029	0.0002	0.0002	0.0018	0.0014	0.0001	0	0	0	0	0	0	0.0004	0	0.0029	0.004	0.68238	D	0.006	0.70582	D	0.861	0.47410	P	0.186	0.36104	B	0.673302	0.10322	N	0.844168	1	0.08975	N	1.39	0.34934	L	1.33	0.35031	T	-3.07	0.65171	D	0.154	0.18920	-1.0949	0.04766	T	0.038	0.16505	T	10	0.004671514	0.00098	T	0.019698	0.42129	T	0.054	0.15330	.	.	0.396044805602	0.39223	0.058306367123164525	0.05771	0.218494503368	0.24388	0.274333715439	0.06714	T	0.526751	0.83549	D	-0.554033	0.00276	T	-0.573533	0.15127	T	0.0736786626600094	0.09159	T	0.89551	0.65583	D	0.050842647	0.09248	0.10352412	0.24841	0.06368297	0.13434	0.104431875	0.25081	-6.652	0.51448	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	0.973545	0.13505	10.03	0.48836804643797771	0.04108	0.51148	0.28828	D	AEFI	0.319170	0.42265	N	-0.256684570780881	0.30837	1.723282	-0.327549145300613	0.27212	1.508418	0.736961653415461	0.23147	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.58	3.42	0.38259	3.237000	0.51043	0.953000	0.22937	0.676000	0.76740	0.334000	0.25623	0.000000	0.08366	0.063000	0.16184	0.0752:0.1244:0.8004:0.0	12.107	0.53117	854	0.34840	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1255.43	44	chr6	152387199	.	G	A	1255.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=495;ExcessHet=0;FS=2.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=0.14;SOR=0.947	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr6	152390293	152390293	C	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon53:c.G8185A:p.V2729I,SYNE1:NM_182961:exon53:c.G8164A:p.V2722I	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	2	1505	15	0	0	15	0.00495868	.	.	.	195116	not_specified|SYNE1-related_disorder|not_provided|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.039	.	0.0072	0.00319489	0.0063	0.0014	0.0016	0.0001	0.0111	0.0090	0.0033	0.0035	0.0062224	962	154602	rs151091241	0.0075	0.0075	0.0074	0.0076	0.0083	0.0074	0.0073	0.0081	0.0081	0.0012	0.0017	0.0111	0.0002	0.0104	0.0063	0.0083	0.0064	0.0039	0.0067	0.0067	0.0069	0.0064	0.0097	0.0063	0.0062	0.0091	0.0088	0.0019	0.0285	0.0040	0.0127	0	0.0116	0.0034	0.0097	0.0057	0.0031	0.533	0.06957	T	0.141	0.33780	T	0.001	0.07471	B	0.001	0.04355	B	0.406975	0.04568	N	1.358490	1	0.08975	N	0.975	0.24501	L	1.36	0.34452	T	0.09	0.06253	N	0.118	0.10769	-1.0545	0.13172	T	0.023	0.09832	T	10	0.0038227737	0.00072	T	.	.	.	0.039	0.10176	.	.	0.0846915920261	0.08053	0.024331021736669012	0.02384	0.106343627862	0.12022	0.233329594135	0.02224	T	0.120855	0.44340	T	-0.681705	0.00047	T	-0.742604	0.03782	T	0.00260534037458298	0.00027	T	0.268673	0.04486	T	0.018339487	0.00355	0.02465878	0.00489	0.016190654	0.00182	0.026594866	0.00757	-3.85	0.21553	T	.	.	0.066	0.02313	B	.;.;.	.;.;.	-1.343160	0.00403	0.008	0.68992732397319667	0.08831	0.01856	0.05735	N	AEFI	0.081305	0.16450	N	-1.58915516320912	0.01319	0.05746705	-1.70972514132429	0.01095	0.04919225	0.999999974319441	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	-12.3	0.00001	-0.705000	0.05154	-14.321000	0.00410	-1.988000	0.00457	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.0662:0.2809:0.1314:0.5215	7.246	0.25296	863	0.32847	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	2633.14	39	chr6	152390293	.	C	T	2633.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.364;DP=497;ExcessHet=0.2348;FS=1.198;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.76;SOR=0.798	GT:AD:DP:GQ:PL	0/1:43,50:93:99:1236,0,1004	8	0	2	0
chr6	152399777	152399777	G	T	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon48:c.C7097A:p.T2366N,SYNE1:NM_182961:exon48:c.C7076A:p.T2359N	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	266020	not_provided|Inborn_genetic_diseases|Autosomal_recessive_ataxia,_Beauce_type|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012549,MedGen:C1853116,OMIM:610743,Orphanet:88644|MONDO:MONDO:0013071,MedGen:C2751807,OMIM:612998,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.100	0.00760018042742	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0.0011	0.0002	0.0001229	19	154602	rs142747430	0.0001	0.0001	0.0001	0.0002	0.0088	0.0001	0.0001	0.0069	0.0062	2.987e-05	0.0002	7.652e-05	0	0	0.0088	9.443e-05	0.0001	0.0002	0.0002	0.0002	8.994e-05	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	0	0	0.0006	0	0	0	0.0068	0.0002	0.0009	0	0.063	0.36709	T	0.006	0.70582	D	0.907	0.50062	P	0.478	0.47030	P	0.020366	0.27054	N	0.315023	0.999282	0.46548	D	2.535	0.73915	M	1.33	0.35031	T	-2.54	0.55025	D	0.671	0.67908	-1.1354	0.01540	T	0.070	0.28675	T	10	0.3051511	0.48034	T	0.008	0.20166	T	0.100	0.28662	.	.	0.545869088564	0.54241	0.4366843502356348	0.43585	0.247225316815	0.27269	0.65043091774	0.60047	T	0.634238	0.88703	D	-0.309711	0.07773	T	-0.385095	0.35126	T	0.129531408373129	0.15338	T	0.892511	0.62902	D	0.20593356	0.42750	0.2313777	0.48267	0.20593356	0.42750	0.2313777	0.48266	-7.61	0.58381	D	.	.	0.212	0.44042	B	.;.;.	.;.;.	3.217692	0.43831	21.8	0.93957290805129356	0.24023	0.98204	0.80511	D	AEFBIJ	0.901980	0.84932	D	0.505849931100383	0.67434	5.081264	0.556523022088004	0.71851	5.718466	0.999999999938205	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.06	5.16	0.70563	7.524000	0.80796	6.410000	0.55593	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.0:0.0:0.8704:0.1296	16.772	0.85400	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.005435	0.020468	0.000000	0.008621	0.006098	0.000000	0.05	1418.43	42	chr6	152399777	.	G	T	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.46;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.543;SOR=0.676	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1058	9	0	1	0
chr6	154039729	154039729	-	CGG	exonic	OPRM1	.	nonframeshift insertion	OPRM1:NM_000914:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008503:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008504:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001008505:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145282:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145283:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145284:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145285:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001145286:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285522:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285523:exon1:c.185_186insCGG:p.G63_S64insG,OPRM1:NM_001285524:exon2:c.464_465insCGG:p.G156_S157insG,OPRM1:NM_001145279:exon3:c.464_465insCGG:p.G156_S157insG	.	423	1079	20	0	0	20	0.00918274	.	.	.	2820830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0042	0.00259585	0.0074	0.0012	0.0019	0	0.0070	0.0096	0.0079	0.0095	0.0043031	112	26028	rs576853670	0.0068	0.0068	0.0067	0.0069	0.0097	0.0067	0.0066	0.0091	0.0089	0.0010	0.0028	0.0037	2.519e-05	0.0063	0.0064	0.0073	0.0063	0.0097	0.0051	0.0051	0.0054	0.0049	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0011	0.0042	0.0060	0	0.0043	0.0068	0.0079	0.0057	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.015244	0.003788	0.15	6911.39	38	chr6	154039729	.	C	CCGG	6911.39	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.922;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=31.42;ReadPosRankSum=1.19;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	8	1	1	0
chr6	154093424	154093441	GTGGAGCATTTCTCCTGA	-	exonic	OPRM1	.	nonframeshift deletion	OPRM1:NM_001008505:exon4:c.1319_1336del:p.G441_S446del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.969e-05	0	0	0	0	7.493e-05	0	6.058e-05	7.68e-05	2	26028	rs746389905	4.515e-05	4.515e-05	4.628e-05	4.4e-05	0.0009	3.641e-05	3.321e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	5.036e-05	1.656e-05	3.478e-05	3.945e-05	3.94e-05	3.855e-05	4.039e-05	0.0002	1.716e-05	1.13e-05	1.171e-05	6.25e-06	2.416e-05	0	0	0	0	0	0.0032	4.409e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2906.39	160	chr6	154093423	.	GGTGGAGCATTTCTCCTGA	G	2906.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.704;DP=1661;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=1.64;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:167,0:167:99:.:.:0,120,1800:.	9	0	1	0
chr6	154093428	154093428	A	0	exonic	OPRM1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	58882.6	160	chr6	154093428	.	A	*	58882.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=1689;ExcessHet=0.2348;FS=0.896;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.18;ReadPosRankSum=1.75;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:93,0:170:99:0|1:154093428_A_G:2684,2964,6706:154093428	9	0	1	0
chr6	154093438	154093438	C	0	exonic	OPRM1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	55324.6	142	chr6	154093438	.	C	*	55324.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=1521;ExcessHet=0.2348;FS=0.926;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.51;ReadPosRankSum=0.493;SOR=0.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:86,0:150:99:0|1:154093428_A_G:2375,2634,6173:154093428	9	0	1	0
chr6	154406420	154406420	C	T	exonic	CNKSR3	.	nonsynonymous SNV	CNKSR3:NM_001368117:exon13:c.G1514A:p.S505N	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000399361	0.0005	0.0002	0.0004	0	0	0.0007	0	0.0008	0.000511	79	154602	rs375084512	0.0007	0.0007	0.0007	0.0008	0.0009	0.0007	0.0007	0.0008	0.0008	5.974e-05	0.0002	0	0	0	0.0003	0.0009	0.0006	0.0009	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0002	0	0	9.423e-05	0	0.0009	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.1	2950.12	34	chr6	154406420	.	C	T	2950.12	.	AC=2;AF=0.1;AN=20;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.8;SOR=1.09	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	9	1	0	0
chr6	156777818	156777818	-	GCG	exonic	ARID1B	.	nonframeshift insertion	ARID1B:NM_001374820:exon1:c.138_139insGCG:p.A53_P54insA,ARID1B:NM_001374828:exon1:c.138_139insGCG:p.A53_P54insA,ARID1B:NM_017519:exon1:c.138_139insGCG:p.A53_P54insA,ARID1B:NM_001371656:exon2:c.138_139insGCG:p.A53_P54insA	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2744010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1357725716	0.0013	0.0009	0.0013	0.0013	0.0029	0.0012	0.0012	0.0022	0.0020	0.0018	0.0009	0	0.0010	0.0002	0.0005	0.0013	0.0011	0.0029	0.0019	0.0018	0.0019	0.0018	0.0028	0.0017	0.0016	0.0024	0.0022	0.0028	0.0092	0.0011	0.0003	0.0017	0.0004	0	0.0016	0.0015	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	382.77	5	chr6	156777818	.	C	CGCG	382.77	.	AC=2;AF=0.1;AN=20;DP=88;ExcessHet=0;FS=0;InbreedingCoeff=0.8151;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.7;SOR=0.892	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,163	9	1	0	0
chr6	156778848	156778850	GGC	-	exonic	ARID1B	.	nonframeshift deletion	ARID1B:NM_001374820:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001374828:exon1:c.1168_1170del:p.G402del,ARID1B:NM_017519:exon1:c.1168_1170del:p.G402del,ARID1B:NM_001371656:exon2:c.1168_1170del:p.G402del	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	579302	not_provided|ARID1B-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0647	.	0.0053	0.0094	0	0.0074	.	0.0050	0	0.0054	0.0005886	91	154602	rs752981400	0.0011	0.0062	0.0010	0.0011	0.0042	0.0010	0.0010	0.0035	0.0033	0.0010	0.0042	0.0019	0.0005	0.0015	0.0022	0.0008	0.0014	0.0039	0.0004	0.0005	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0004	0	0.0013	0	0	0	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	45.39	37	chr6	156778847	.	GGGC	G	45.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.75;ReadPosRankSum=0.403;SOR=1.071	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	9	0	1	0
chr6	157206687	157206687	C	T	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001363725:exon18:c.C3416T:p.P1139L,ARID1B:NM_017519:exon19:c.C5756T:p.P1919L,ARID1B:NM_001374820:exon20:c.C5795T:p.P1932L,ARID1B:NM_001374828:exon20:c.C5915T:p.P1972L,ARID1B:NM_001371656:exon21:c.C5795T:p.P1932L	Coffin-Siris syndrome 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2731715	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.00605641085404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs202194222	3.218e-05	3.215e-05	2.725e-05	3.715e-05	0.0002	2.48e-05	2.222e-05	2.743e-05	2.469e-05	0	0	0	0	0	0.0002	3.687e-05	4.968e-05	2.319e-05	2.632e-05	2.627e-05	2.572e-05	2.694e-05	4.835e-05	8.15e-06	5.15e-06	8.01e-06	3e-06	4.835e-05	0	0	0	0	0	0	2.942e-05	0	0	0.054	0.38633	T	0.039	0.51112	D	0.0	0.07471	B	0.0	0.04355	B	0.529902	0.05251	N	1.232210	0.999991	0.08975	N	1.91	0.51138	L	4.72	0.02234	T	-2.81	0.59389	D	0.245	0.27673	-0.9050	0.47447	T	0.004	0.01295	T	10	0.095736414	0.17121	T	0.006056	0.15816	T	0.086	0.25016	0.198	0.11110	0.226560886239	0.22246	0.20708431313095954	0.20624	0.718446339905	0.62092	0.332462519407	0.15306	T	0.208842	0.56888	T	-0.260726	0.12814	T	-0.596806	0.13081	T	0.126757134591406	0.15079	T	0.916008	0.72410	D	0.055648275	0.10844	0.078298636	0.17526	0.055648275	0.10843	0.078298636	0.17525	-4.678	0.33137	T	0.0928368908269276	0.06043	0.076	0.06114	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.369155	0.30397	18.42	0.70290555709377378	0.09248	0.48111	0.28133	N	AEFBI	0.124767	0.24097	N	-0.63334334423356	0.17949	0.9279807	-0.626145027005819	0.18821	1.007196	0.943058962526068	0.27551	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.43	3.56	0.39892	3.487000	0.52986	3.271000	0.37160	0.549000	0.26987	0.060000	0.21767	0.229000	0.23770	0.107000	0.18608	0.0:0.9174:0.0:0.0826	12.461	0.55070	939	0.14249	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1862.43	35	chr6	157206687	.	C	T	1862.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.78;DP=469;ExcessHet=0;FS=0.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.58;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	9	0	1	0
chr6	158192041	158192041	A	G	exonic	GTF2H5	.	nonsynonymous SNV	GTF2H5:NM_207118:exon3:c.A100G:p.I34V	Trichothiodystrophy 3, photosensitive	0	1518	4	0	0	4	0.00131579	.	.	.	1364851	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.0092175309781	.	.	7.416e-05	0	0	0	0	4.498e-05	0	0.0004	6.47e-05	10	154602	rs748906092	6.979e-05	6.977e-05	6.536e-05	7.427e-05	0.0003	5.848e-05	5.458e-05	0.0002	0.0001	2.988e-05	2.236e-05	0	0	0	0.0003	6.477e-05	9.936e-05	0.0002	3.284e-05	3.283e-05	2.569e-05	4.033e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.981e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0006	.	.	.	0.465	0.12421	T	0.045	0.21781	B	0.027	0.21085	B	0.000000	0.84330	N	0.050264	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.31814	-0.6605	0.62254	T	0.295	0.66659	T	9	0.124952555	0.23738	T	0.009218	0.24225	T	.	.	.	.	0.195762928549	0.19159	0.5570683235828442	0.55633	0.0260321816419	0.02658	0.745974719524	0.73853	T	0.161456	0.50572	T	-0.270154	0.11740	T	-0.351534	0.39030	T	0.196821630001068	0.20239	T	0.824218	0.48580	T	0.528503	0.68746	0.41037402	0.65299	0.497	0.66949	0.440663	0.67377	-3.143	0.11797	T	0.1361750797366211	0.14869	0.085	0.10159	B	.	.	2.796114	0.36766	20.3	0.68541410136514858	0.08690	0.96442	0.69160	D	AEFDBI	0.898633	0.84214	D	-0.3080205435612	0.28843	1.594302	-0.164391350954765	0.32858	1.873617	0.922437865926696	0.26708	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	4.9	0.63643	7.392000	0.79116	11.177000	0.88172	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.9292:0.0:0.0708:0.0	10.860	0.46030	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1106.43	34	chr6	158192041	.	A	G	1106.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.824;DP=418;ExcessHet=0;FS=1.557;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1;SOR=0.547	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	9	0	1	0
chr6	158502088	158502088	C	A	exonic	TULP4	.	nonsynonymous SNV	TULP4:NM_020245:exon13:c.C2425A:p.P809T	.	428	1077	17	0	0	17	0.00783049	.	.	.	2828087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0031	0.00219649	0.0044	0.0014	0.0073	0	0.0051	0.0053	0.0104	0.0018	0.0040556	627	154602	rs138229082	0.0038	0.0038	0.0038	0.0038	0.0176	0.0037	0.0037	0.0148	0.0138	0.0009	0.0067	0.0293	0	0.0033	0.0176	0.0033	0.0058	0.0021	0.0040	0.0040	0.0039	0.0041	0.0071	0.0037	0.0036	0.0060	0.0056	0.0011	0	0.0071	0.0308	0	0.0045	0.0170	0.0039	0.0081	0.0023	0.003	0.68238	D	0.44	0.13328	T	0.181	0.29111	B	0.036	0.22909	B	0.004485	0.33689	N	0.310630	0.912691	0.81001	D	1.385	0.34509	L	0.07	0.61677	T	-1.08	0.28084	N	0.276	0.31253	-0.9218	0.45307	T	0.107	0.38906	T	10	0.0054033697	0.00119	T	.	.	.	0.103	0.29403	.	.	0.2338531098	0.23012	0.29534259758561265	0.29447	0.297816076613	0.32164	0.432674109936	0.29574	T	0.013919	0.11944	T	-0.351081	0.04659	T	-0.273773	0.47438	T	0.0181717825363782	0.00538	T	0.809419	0.45992	T	0.06854221	0.14940	0.072205424	0.15551	0.06854221	0.14940	0.072205424	0.15551	-3.966	0.23293	T	.	.	0.069	0.03060	B	.	.	1.888443	0.23987	16.23	0.99012691597313629	0.50399	0.88900	0.49056	D	AEFDBI	0.134470	0.25449	N	-0.392150280991895	0.25748	1.400027	-0.381894009516354	0.25537	1.404971	0.999982869013616	0.51787	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.39	4.52	0.54797	2.715000	0.46879	1.927000	0.29747	0.599000	0.40250	0.679000	0.28429	0.562000	0.25526	0.223000	0.22544	0.0:0.8653:0.1347:0.0	16.050	0.80559	698	0.58074	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.000000	0.019022	0.032164	0.000000	0.008621	0.009146	0.003788	0.05	1368.43	36	chr6	158502088	.	C	A	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.132;DP=470;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.78;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1351	9	0	1	0
chr6	158585341	158585341	A	C	exonic	TMEM181	.	nonsynonymous SNV	TMEM181:NM_001376856:exon2:c.A54C:p.K18N,TMEM181:NM_001376855:exon4:c.A201C:p.K67N,TMEM181:NM_001376817:exon5:c.A420C:p.K140N,TMEM181:NM_001376850:exon5:c.A297C:p.K99N,TMEM181:NM_001376852:exon5:c.A297C:p.K99N,TMEM181:NM_001376854:exon5:c.A297C:p.K99N,TMEM181:NM_020823:exon5:c.A420C:p.K140N	.	431	1069	21	1	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0072	0.00439297	0.0060	0.0016	0.0040	0.0002	0.0023	0.0089	0.0090	0.0028	0.0061772	955	154602	rs41266341	0.0078	0.0078	0.0079	0.0077	0.0169	0.0077	0.0076	0.0142	0.0132	0.0010	0.0049	0.0186	2.525e-05	0.0013	0.0169	0.0087	0.0083	0.0033	0.0062	0.0062	0.0064	0.0059	0.0091	0.0058	0.0057	0.0084	0.0082	0.0015	0.0011	0.0091	0.0210	0	0.0006	0.0272	0.0090	0.0104	0.0025	0.136	0.26085	T	0.237	0.24621	T	0.788	0.44546	P	0.201	0.36881	B	0.000000	0.84330	D	0.092195	0.708289	0.33492	D	2.2	0.62015	M	.	.	.	-1.31	0.32791	N	0.684	0.69037	-1.0861	0.06209	T	0.042	0.18118	T	9	0.00878191	0.00199	T	.	.	.	0.124	0.34239	0.407	0.44066	0.0762999501168	0.06990	0.445810111811711	0.44499	0.207708327126	0.23235	0.658450484276	0.61187	T	0.013	0.11252	T	-0.504487	0.00539	T	-0.488042	0.23596	T	0.0240138043545516	0.01147	T	0.808019	0.45805	T	0.08445353	0.19549	0.10617646	0.25537	0.08445353	0.19549	0.10617646	0.25536	-8.518	0.64548	D	.	.	0.513	0.65158	A	.	.	1.649449	0.21042	15.03	0.99334652967786197	0.59934	0.86213	0.45451	D	AEFDBI	0.104897	0.20976	N	-0.348541092712033	0.27326	1.498331	-0.371911551102668	0.25838	1.423409	0.478385295646404	0.20765	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	-1.12	0.09306	0.817000	0.26938	0.764000	0.21339	0.691000	0.84096	1.000000	0.71638	0.984000	0.30665	0.993000	0.69303	0.5379:0.0:0.4621:0.0	9.748	0.39624	644	0.63734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015641	0.015152	0.021739	0.011696	0.000000	0.025862	0.006173	0.007576	0.05	808.43	33	chr6	158585341	.	A	C	808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.694;DP=393;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-1.624;SOR=0.914	GT:AD:DP:GQ:PL	0/1:42,38:80:99:820,0,989	9	0	1	0
chr6	159226563	159226563	C	T	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon9:c.C1163T:p.T388I	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0343761035615	.	0.000199681	0.0001	0	0	0	0	2.453e-05	0	0.0009	7.76e-05	12	154602	rs538489902	3.301e-05	3.352e-05	9.565e-06	5.676e-05	0.0005	2.557e-05	2.261e-05	0.0004	0.0004	0	0	0	0	0	0.0003	9.024e-07	0	0.0005	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0004	2.18e-06	8.2e-07	7.301e-05	3.033e-05	0	0	0	0	0	0	0	0	0	0.0004	0.009	0.57480	D	0.006	0.70582	D	0.984	0.60733	D	0.899	0.63802	P	0.001493	0.38855	N	0.255444	0.999927	0.19486	N	0.91	0.23283	L	0.42	0.56937	T	-2.67	0.57110	D	0.173	0.18512	-0.8350	0.52976	T	0.212	0.57281	T	10	0.0914509	0.16020	T	0.034376	0.55635	D	0.230	0.53062	0.652	0.78963	0.814594976307	0.81285	0.21536124191375183	0.21452	0.173858297058	0.19575	0.500278711319	0.38867	T	0.028138	0.20449	T	-0.377744	0.03219	T	-0.405735	0.32717	T	0.335910052061081	0.26461	T	0.808019	0.45805	T	0.23265228	0.46057	0.23494193	0.48724	0.23265228	0.46057	0.23494193	0.48723	-7.628	0.58506	D	.	.	0.425	0.60952	A	.	.	4.306277	0.65796	24.9	0.99711884193330369	0.81423	0.82112	0.41391	D	AEFBI	0.606397	0.59675	D	0.530912350388553	0.68929	5.285149	0.467534414560443	0.65851	4.876225	0.967471661337065	0.28980	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.3	5.3	0.74745	5.481000	0.66549	7.609000	0.61840	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.666000	0.33137	0.0:0.8194:0.1806:0.0	15.222	0.73004	802	0.44336	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1089.43	34	chr6	159226563	.	C	T	1089.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.469;DP=417;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.323;SOR=0.548	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	9	0	1	0
chr6	159233994	159233994	C	T	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon11:c.C3482T:p.P1161L	.	406	1112	4	0	0	4	0.00179533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0134296068196	.	.	0.0002	0	0.0008	0	0	0.0001	0.0019	0	8.41e-05	13	154602	rs781220916	7.162e-05	7.251e-05	7.663e-05	6.653e-05	0.0002	6.02e-05	5.625e-05	0.0001	9.398e-05	3e-05	0.0002	0	0	0	0.0002	7.852e-05	8.332e-05	0	4.595e-05	4.593e-05	7.708e-05	1.343e-05	8.82e-05	2.108e-05	1.526e-05	3.762e-05	2.575e-05	0	0	6.532e-05	0	0	0	0	8.82e-05	0	0	0.002	0.72154	D	0.067	0.44302	T	0.139	0.27501	B	0.058	0.26451	B	0.717991	0.06297	N	1.152980	1	0.08975	N	1.845	0.48678	L	3.21	0.07125	T	-2.59	0.55821	D	0.055	0.02658	-0.9509	0.40816	T	0.007	0.02478	T	10	0.045512795	0.03632	T	0.01343	0.32827	T	0.049	0.13647	0.216	0.13643	0.463586170655	0.45986	0.17563515384848222	0.17482	0.164274416294	0.18533	0.476238459349	0.35540	T	0.007974	0.07338	T	-0.396953	0.02424	T	-0.509036	0.21415	T	0.0770810111030435	0.09610	T	0.439856	0.12136	T	0.059997264	0.12260	0.10416944	0.25011	0.059997264	0.12260	0.10416944	0.25011	-3.647	0.18539	T	.	.	0.073	0.04477	B	.	.	2.157417	0.27483	17.48	0.95152996317821947	0.26290	0.12176	0.17107	N	AEFBCI	0.090347	0.18308	N	-0.688695226897764	0.16342	0.8317805	-0.707310783614877	0.16779	0.8891997	0.995287747378203	0.34045	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	4.43	3.49	0.39065	0.321000	0.19306	-0.169000	0.11245	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.2153:0.6749:0.0:0.1098	4.788	0.12604	808	0.43318	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.005102	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	632.43	76	chr6	159233994	.	C	T	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=556;ExcessHet=0;FS=5.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.995;SOR=1.019	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr6	159692689	159692689	C	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.G198C:p.E66D,SOD2:NM_001024465:exon2:c.G198C:p.E66D,SOD2:NM_001024466:exon2:c.G198C:p.E66D,SOD2:NM_001322814:exon2:c.G198C:p.E66D,SOD2:NM_001322815:exon2:c.G198C:p.E66D,SOD2:NM_001322816:exon2:c.G198C:p.E66D,SOD2:NM_001322819:exon2:c.G60C:p.E20D,SOD2:NM_001322820:exon2:c.G60C:p.E20D,SOD2:NM_001322817:exon4:c.G60C:p.E20D	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0553397770076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	1.16e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	0	4.968e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.59928	T	0.474	0.22761	T	0.06	0.70673	B	0.123	0.74104	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.94	0.96382	H	1.91	0.23283	T	-2.7	0.61722	D	0.642	0.67045	-0.7931	0.55549	T	0.132	0.44425	T	10	0.5376678	0.63540	D	0.05534	0.66200	D	0.283	0.60100	0.505	0.59924	0.571207575158	0.56786	0.7653419996472962	0.76483	0.615936802871	0.56074	0.483740031719	0.36571	T	0.236718	0.60425	T	0.0173886	0.54029	T	-0.212799	0.53428	T	0.995941281318665	0.88365	D	0.977902	0.92154	D	0.72045493	0.79187	0.38162246	0.63168	0.72045493	0.79188	0.38162246	0.63167	-11.011	0.79866	D	.	.	0.817	0.83238	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.155207	0.42731	21.6	0.99824454969867782	0.90677	0.87939	0.47656	D	ALL	0.418790	0.48628	N	0.205601521569997	0.51470	3.327985	0.142225579448742	0.46732	2.914405	0.999999999999037	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.77	3.91	0.44383	1.542000	0.35742	3.043000	0.36089	-0.263000	0.06870	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.7598:0.0:0.2402	8.378	0.31614	725	0.54935	Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;.;.;.;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;Manganese/iron superoxide dismutase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1957.43	38	chr6	159692689	.	C	G	1957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.867;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-1.346;SOR=0.719	GT:AD:DP:GQ:PL	0/1:102,90:192:99:1969,0,2646	9	0	1	0
chr6	159907589	159907589	G	A	exonic	MAS1	.	nonsynonymous SNV	MAS1:NM_001366704:exon2:c.G634A:p.V212M,MAS1:NM_002377:exon3:c.G634A:p.V212M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2361621	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0093310999356	.	0.000599042	0.0002	9.625e-05	0	0	0	2.998e-05	0	0.0013	0.0001811	28	154602	rs528603241	8.277e-05	8.414e-05	4.9e-05	0.0001	0.0010	7.069e-05	6.618e-05	0.0008	0.0007	8.961e-05	0.0001	0	2.519e-05	0	0.0002	1.978e-05	8.279e-05	0.0010	8.548e-05	8.533e-05	7.716e-05	9.418e-05	0.0008	4.961e-05	3.965e-05	0.0003	0.0002	0.0001	0	0.0001	0	0	0	0	1.471e-05	0.0005	0.0008	0.033	0.44358	D	0.095	0.39492	T	0.89	0.48942	P	0.626	0.51600	P	0.767964	0.09570	N	0.862194	1	0.08975	N	2.34	0.67151	M	1.15	0.38236	T	-1.5	0.36586	N	0.083	0.05929	-1.0149	0.25368	T	0.065	0.26948	T	10	0.030115366	0.01138	T	0.009331	0.24483	T	0.127	0.34888	.	.	0.156986980423	0.15292	0.15666381872493276	0.15587	0.355704073165	0.37328	0.333332806826	0.15437	T	0.206315	0.56562	T	-0.521878	0.00429	T	-0.562951	0.16101	T	0.0433704753165312	0.04306	T	0.739826	0.35853	T	0.14549969	0.33351	0.14821912	0.35045	0.14549969	0.33350	0.14821912	0.35045	-5.515	0.42008	T	.	.	0.136	0.29477	B	.	.	1.906727	0.24218	16.31	0.99210666745899645	0.55563	0.05089	0.10887	N	AEFBI	0.025947	0.01862	N	-0.584805320774489	0.19405	1.015368	-0.748448161148502	0.15760	0.8304805	9.98509333655941E-5	0.04910	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.47	-0.664	0.10833	0.126000	0.15597	1.480000	0.26815	-1.580000	0.00921	0.014000	0.18986	0.993000	0.31925	0.073000	0.16832	0.6385:0.0:0.3615:0.0	11.266	0.48345	927	0.17636	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2259.43	38	chr6	159907589	.	G	A	2259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=502;ExcessHet=0;FS=5.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.357;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	9	0	1	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V	Hepatocellular carcinoma, somatic	427	993	99	3	0	105	0.0502152	.	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025706	0.005051	0.014946	0.049708	0.000000	0.025862	0.036810	0.018939	0.05	1094.43	35	chr6	160048478	.	C	G	1094.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=428;ExcessHet=0;FS=1.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=-0.956;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr6	160594115	160594115	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon22:c.C3472G:p.P1158A	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0137570227153	.	0.000199681	9.117e-05	0	0	0	0	1.5e-05	0	0.0006	7.76e-05	12	154602	rs544137228	4.037e-05	4.036e-05	1.089e-05	7.014e-05	0.0006	3.179e-05	2.911e-05	0.0005	0.0005	0	0	0	0	0	0.0002	8.995e-07	3.313e-05	0.0006	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.03	0.63077	T	-0.76	0.21215	N	0.276	0.31253	-0.7895	0.55759	T	0.173	0.51627	T	9	0.03520122	0.01759	T	0.013757	0.33405	T	0.147	0.38986	.	.	0.119812018005	0.11559	0.21597434213909278	0.21513	0.253394482153	0.27906	0.286524057388	0.08419	T	.	.	.	-0.343498	0.05149	T	-0.355343	0.38590	T	0.21409527641596	0.21165	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.20196	B	.;.	.;.	2.502347	0.32303	19.00	0.98687021955611687	0.44709	0.04215	0.09729	N	AEFI	0.056941	0.10566	N	-0.530534572567914	0.21098	1.117189	-0.723587566935028	0.16373	0.8658818	2.42115869679832E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.56	2.56	0.29842	0.308000	0.19071	3.475000	0.38608	0.347000	0.19874	0.000000	0.06391	0.931000	0.28545	0.006000	0.07323	0.0:0.0:1.0:0.0	8.614	0.32981	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1661.43	40	chr6	160594115	.	G	C	1661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.772;DP=464;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-2.826;SOR=0.768	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1099	9	0	1	0
chr6	160595441	160595441	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon21:c.C3382G:p.L1128V	.	0	1504	16	2	0	20	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00993353122689	.	0.00119808	0.0008	0	8.639e-05	0	0	7.494e-05	0	0.0055	0.0006792	105	154602	rs199532848	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	2.987e-05	4.472e-05	0	0	0	0.0026	6.565e-05	0.0005	0.0057	0.0003	0.0003	0.0002	0.0003	0.0060	0.0002	0.0002	0.0043	0.0037	4.817e-05	0	6.542e-05	0	0	0	0.0034	0.0001	0	0.0060	0.356	0.12070	T	0.171	0.30339	T	.	.	.	.	.	.	.	.	.	.	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-0.27	0.11366	N	0.444	0.48227	-0.7394	0.58483	T	0.085	0.33269	T	9	0.006380707	0.00144	T	0.009934	0.25856	T	0.115	0.32236	.	.	0.181679512989	0.17746	0.09999171534566688	0.09930	0.262508907343	0.28810	0.47980889678	0.36030	T	.	.	.	-0.507133	0.00521	T	-0.499042	0.22448	T	0.102417654224001	0.12622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49265	B	.;.	.;.	1.799731	0.22873	15.80	0.99492814965958343	0.67573	0.37211	0.25710	N	AEFDGHCI	0.097501	0.19664	N	-0.640166366920478	0.17747	0.9158408	-0.610956012351554	0.19212	1.029751	5.25104750500832E-4	0.07225	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	2.14	1.23	0.20358	0.045000	0.13898	-2.546000	0.03624	0.342000	0.19800	0.207000	0.24389	0.000000	0.08366	0.014000	0.10232	0.2034:0.0:0.7966:0.0	4.725	0.12316	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3016.43	40	chr6	160595441	.	G	C	3016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.827;DP=559;ExcessHet=0;FS=1.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.36;MQRankSum=0.977;QD=12.95;ReadPosRankSum=1.31;SOR=0.608	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	9	0	1	0
chr6	160713004	160713004	C	G	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon5:c.C426G:p.H142Q	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3040713	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0423830234574	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs777371711	2.058e-06	2.052e-06	0	4.135e-06	1.801e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	1.663e-05	0	6.566e-06	6.562e-06	1.285e-05	0	2.406e-05	0	0	.	.	2.406e-05	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.162	0.33554	T	0.907	0.50062	P	0.619	0.51356	P	0.902334	0.08611	U	0.932048	0.968898	0.38691	D	2.635	0.77114	M	0.04	0.62051	T	-3.7	0.74504	D	0.157	0.16308	-0.6403	0.63133	T	0.206	0.56403	T	10	0.3693383	0.53352	T	0.042383	0.60436	D	0.284	0.60219	0.457	0.52265	0.772125089601	0.77003	0.7307462416161598	0.73019	0.395391962179	0.40679	0.332114875317	0.15254	T	0.267804	0.63987	T	-0.0775468	0.40114	T	-0.349167	0.39300	T	0.616007328033447	0.37043	D	0.665033	0.32156	T	0.45345184	0.64260	0.42835316	0.66551	0.45345184	0.64260	0.42835316	0.66551	-7.635	0.58555	D	.	.	0.302	0.68991	B	.;.	.;.	2.325672	0.29784	18.23	0.94161386039854578	0.24367	0.57826	0.30479	D	AEFBI	0.817374	0.73888	D	-0.361252375775823	0.26861	1.469258	-0.589058051839891	0.19777	1.06267	8.63317098272832E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	-0.54	0.11268	-0.064000	0.11593	0.374000	0.17708	0.519000	0.23678	0.001000	0.13787	0.032000	0.21310	0.213000	0.22268	0.0:0.7206:0.0:0.2794	11.633	0.50448	856	0.34373	Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	869.43	34	chr6	160713004	.	C	G	869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.086;DP=388;ExcessHet=0;FS=2.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.55;MQRankSum=-0.139;QD=10.73;ReadPosRankSum=0.781;SOR=0.428	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	9	0	1	0
chr6	160718377	160718377	G	A	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon8:c.G871A:p.V291M	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	3070551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.146	0.0358998332747	.	0.000798722	0.0005	0	0	0	0	1.498e-05	0.0011	0.0036	0.0004269	66	154602	rs564003153	0.0002	0.0002	8.853e-05	0.0003	0.0028	0.0002	0.0001	0.0025	0.0024	2.989e-05	0	0	0	0	0	1.8e-06	0.0002	0.0028	0.0001	0.0001	7.708e-05	0.0002	0.0044	9.736e-05	8.252e-05	0.0029	0.0025	2.405e-05	0	0	0	0	0	0	0	0	0.0044	0.089	0.32141	T	0.102	0.38450	T	0.746	0.43152	P	0.303	0.41149	B	0.107683	0.02608	U	2.945190	1	0.08975	N	2.075	0.57047	M	-0.25	0.67011	T	-1.18	0.30140	N	0.126	0.11912	-0.9780	0.35458	T	0.126	0.43153	T	10	0.013486147	0.00286	T	0.036	0.56644	D	0.146	0.38789	0.441	0.49648	0.651489787803	0.64859	0.461620484997656	0.46080	0.345189148028	0.36432	0.344311714172	0.17081	T	0.126154	0.45234	T	-0.454626	0.01060	T	-0.427921	0.30171	T	0.0375665192707762	0.03255	T	0.69823	0.30825	T	0.08532787	0.19789	0.06240368	0.12205	0.09237349	0.21669	0.06754676	0.13987	-6.06	0.46778	T	0.0972378988517276	0.06817	0.107	0.20038	B	.	.	1.177527	0.15679	12.02	0.97589439127948052	0.34780	0.10514	0.16000	N	AEFDBI	0.650468	0.62456	D	-0.523225502952805	0.21330	1.131215	-0.702740861991772	0.16893	0.8957479	0.00231192580526019	0.09317	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.3	-1.23	0.08977	2.420000	0.44334	-0.591000	0.08322	0.671000	0.69459	0.059000	0.21734	0.000000	0.08366	0.027000	0.12703	0.2966:0.2265:0.4769:0.0	6.137	0.19459	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2422.43	35	chr6	160718377	.	G	A	2422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=542;ExcessHet=0;FS=3.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=1.73;SOR=0.922	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1239	9	0	1	0
chr6	160731787	160731787	C	T	exonic	PLG	.	nonsynonymous SNV	PLG:NM_000301:exon12:c.C1481T:p.A494V	Dysplasminogenemia, Autosomal recessive;Plasminogen deficiency, type I, Autosomal recessive	0	1507	15	0	0	15	0.00495213	.	.	.	679945	Otitis_media,_susceptibility_to|not_provided	MONDO:MONDO:0008162,MedGen:C1833692,OMIM:166760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.281	.	0.0085	0.00898562	0.0082	0.0153	0.0310	0.0007	0	0.0067	0.0154	0.0002	0.007943	1228	154602	rs4252128	0.0048	0.0048	0.0049	0.0047	0.0294	0.0047	0.0046	0.0281	0.0275	0.0161	0.0294	0.0588	0.0013	3.744e-05	0.0274	0.0024	0.0121	0.0004	0.0097	0.0097	0.0099	0.0095	0.0189	0.0093	0.0091	0.0171	0.0164	0.0165	0	0.0189	0.0606	0.0015	0	0.0442	0.0035	0.0147	0.0012	0.014	0.53172	D	0.301	0.20293	T	0.992	0.64738	D	0.928	0.66279	D	0.051001	0.23021	U	0.204869	0.871976	0.28192	N	2.835	0.82492	M	-0.05	0.63403	T	-2.38	0.52451	N	0.319	0.35938	-0.5027	0.68553	T	0.354	0.71735	T	10	0.006421864	0.00145	T	.	.	.	0.281	0.59861	.	.	0.879256654498	0.87807	0.9470999344416133	0.94692	0.764815853878	0.64440	0.386979937553	0.23243	T	0.170333	0.51804	T	-0.462974	0.00942	T	-0.415494	0.31594	T	0.0510961458304338	0.05691	T	0.865613	0.56501	D	0.40057975	0.60773	0.28265077	0.54254	0.40057975	0.60773	0.28265077	0.54253	-9.693	0.72053	D	0.09881414717756476	0.07107	0.330	0.55194	B	.	.	3.859389	0.55956	23.7	0.99877461595648165	0.95410	0.77636	0.38195	D	AEFBI	0.941528	0.94492	D	0.442024568810016	0.63752	4.615072	0.261246359392058	0.53291	3.498781	0.999588408453391	0.40607	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	5.708000	0.68030	4.639000	0.44147	0.449000	0.21268	0.995000	0.38783	1.000000	0.68203	0.002000	0.04165	0.0:1.0:0.0:0.0	12.491	0.55240	856	0.34373	Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.045821	0.111111	0.051630	0.020468	0.000000	0.025862	0.027439	0.018939	0.05	1730.43	35	chr6	160731787	.	C	T	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.653;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=1.6;SOR=0.737	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	9	0	1	0
chr6	166324574	166324574	C	G	exonic	SFT2D1	.	nonsynonymous SNV	SFT2D1:NM_145169:exon6:c.G373C:p.V125L	.	433	1082	7	0	0	7	0.00322432	.	.	.	2342798	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.135	0.00295808346105	.	0.000399361	0.0003	0	8.642e-05	0	0	0.0003	0	0.0011	0.0003234	50	154602	rs201368298	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	0	0.0002	0	0	7.49e-05	0.0024	0.0002	0.0005	0.0008	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	2.405e-05	0	0.0004	0	0.0004	0	0.0102	0.0003	0.0009	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.014781	0.28435	N	0.327095	0.999953	0.19072	N	-1.085	0.01025	N	0.34	0.58176	T	1.23	0.01037	N	0.356	0.39760	-0.9801	0.34979	T	0.006	0.02093	T	10	0.009871125	0.00221	T	0.002958	0.06309	T	0.135	0.36572	0.492	0.57890	0.139678290688	0.13603	0.4993991559953314	0.49860	0.152145718627	0.17166	0.382497042418	0.22611	T	0.007865	0.07247	T	-0.506802	0.00523	T	-0.568239	0.15611	T	0.00590209279276971	0.00065	T	0.805019	0.45286	T	0.018547177	0.00377	0.030315278	0.01473	0.018547177	0.00376	0.030315278	0.01472	-0.111	0.00390	T	.	.	0.054	0.00321	B	.	.	-1.689793	0.00199	0.003	0.13993490628087332	0.00294	0.02588	0.07146	N	AEFBI	0.032589	0.03708	N	-1.97229769805181	0.00242	0.01039188	-1.91756206770573	0.00452	0.01999473	0.999999984539548	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.08	-10.2	0.00305	-1.207000	0.03118	-3.915000	0.02455	-1.034000	0.01683	0.000000	0.06391	0.000000	0.08366	0.248000	0.23210	0.125:0.48:0.213:0.1819	4.405	0.10833	993	0.01300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	642.43	38	chr6	166324574	.	C	G	642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.809;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.56;ReadPosRankSum=1.37;SOR=0.766	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	9	0	1	0
chr6	167340931	167340931	A	C	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.A1031C:p.K344T	.	432	1069	19	2	0	23	0.0106432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00154577874248	0.0005	0.000998403	0.0013	9.61e-05	0.0002	0	0	0.0004	0.0022	0.0078	0.0010543	163	154602	rs146295287	0.0007	0.0007	0.0005	0.0010	0.0082	0.0007	0.0007	0.0077	0.0075	0	0.0001	0	2.519e-05	0	0.0076	0.0002	0.0010	0.0082	0.0004	0.0004	0.0003	0.0005	0.0060	0.0003	0.0003	0.0043	0.0037	4.817e-05	0	0.0002	0	0	0	0	0.0004	0	0.0060	0.007	0.59928	D	0.009	0.66756	D	1.0	0.90584	D	0.985	0.76457	D	0.002034	0.37411	N	0.159801	0.987245	0.24536	N	2.43	0.70455	M	3.38	0.05778	T	-4.11	0.74980	D	0.397	0.43803	-1.1011	0.03961	T	0.025	0.10643	T	10	0.010228634	0.00228	T	0.001546	0.02420	T	0.072	0.21020	.	.	0.262662153117	0.25859	0.6282461185719669	0.62757	0.565748960011	0.52901	0.371026456356	0.20979	T	0.01456	0.12376	T	-0.475804	0.00783	T	-0.45153	0.27528	T	0.0616771880338444	0.07429	T	0.714629	0.32694	T	0.3679429	0.58432	0.31032136	0.57043	0.3679429	0.58432	0.31032136	0.57043	-6.996	0.54005	T	.	.	0.220	0.45074	B	.;.	.;.	2.550494	0.33007	19.21	0.99630248474974281	0.76020	0.32261	0.24541	N	AEFBHCI	0.145505	0.26872	N	0.044515280591658	0.43891	2.673259	-0.167817901167994	0.32728	1.865	0.947404356873519	0.27751	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.75	1.37	0.21200	0.779000	0.26407	1.966000	0.29963	0.587000	0.30956	0.923000	0.32050	0.003000	0.18671	0.692000	0.33898	0.8004:0.0:0.1996:0.0	7.627	0.27383	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.008152	0.008772	0.000000	0.017241	0.012195	0.007576	0.05	3944.43	36	chr6	167340931	.	A	C	3944.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.901;DP=790;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.967;SOR=0.75	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	9	0	1	0
chr6	167966010	167966010	A	G	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001291964:exon31:c.A5072G:p.N1691S,AFDN:NM_001366319:exon31:c.A5195G:p.N1732S,AFDN:NM_001366320:exon31:c.A5201G:p.N1734S,AFDN:NM_001366321:exon31:c.A5180G:p.N1727S	.	361	1158	3	0	0	3	0.00129366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0146330820705	.	0.000399361	0.0001	0.0007	0	0	0	0	0	0.0001	2.59e-05	4	154602	rs570431188	3.148e-05	3.078e-05	2.4e-05	3.916e-05	0.0004	2.386e-05	2.125e-05	0.0002	0.0002	0	8.403e-05	0	2.798e-05	0	0.0004	8.341e-06	6.897e-05	0.0003	9.193e-05	9.185e-05	7.711e-05	0.0001	0.0010	5.524e-05	4.362e-05	0.0004	0.0003	9.626e-05	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0010	0.222	0.19361	T	0.21	0.26714	T	0.0	0.02946	B	0.001	0.04355	B	0.323950	0.14224	N	0.691920	0.99999	0.26500	N	1.525	0.38595	L	3.74	0.03951	T	-0.81	0.22294	N	0.059	0.07398	-0.9394	0.42711	T	0.003	0.00994	T	9	0.017754346	0.00381	T	0.014633	0.34872	T	0.080	0.23350	0.18	0.08751	0.043077524339	0.03247	0.162663734501286	0.16186	.	.	.	.	.	0.023079	0.70060	T	-0.589973	0.00168	T	-0.78904	0.02191	T	0.021687271521823	0.00873	T	0.805919	0.45429	T	0.040872682	0.05915	0.02856619	0.01105	0.040872682	0.05915	0.02856619	0.01105	-2.726	0.07523	T	.	.	0.069	0.03736	B	.;.;.;.	.;.;.;.	0.879320	0.12522	9.054	0.81187520863439511	0.13562	0.66241	0.33010	D	AEFDBI	0.094559	0.19117	N	-0.77663213839146	0.13920	0.6893732	-0.801007497539816	0.14471	0.7562783	0.999968952471454	0.48965	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.85	-4.72	0.03032	0.880000	0.27798	0.214000	0.15995	0.756000	0.94297	0.994000	0.38300	0.000000	0.08366	0.997000	0.79791	0.2934:0.4897:0.2169:0.0	7.276	0.25455	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2037.43	33	chr6	167966010	.	A	G	2037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.08;DP=498;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.902;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,920	9	0	1	0
chr6	167976202	167976202	G	0	exonic	HGC6.3	.	.	.	.	547	870	80	2	23	107	0.0460526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	4443.63	78	chr6	167976202	.	G	*	4443.63	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.37;DP=626;ExcessHet=0.7463;FS=10.156;InbreedingCoeff=-0.2124;MLEAC=1;MLEAF=0.056;MQ=56.17;MQRankSum=4.13;QD=18.06;ReadPosRankSum=3.67;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	8	0	1	1
chr6	167976212	167976212	A	0	exonic	HGC6.3	.	.	.	.	463	956	84	1	18	104	0.043043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	4052.12	79	chr6	167976212	.	A	*	4052.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.156;DP=626;ExcessHet=0.8432;FS=7.989;InbreedingCoeff=-0.0996;MLEAC=1;MLEAF=0.063;MQ=55.3;MQRankSum=3.91;QD=16.68;ReadPosRankSum=3.43;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	7	0	1	2
chr6	167976228	167976228	T	0	exonic	HGC6.3	.	.	.	.	453	974	78	0	17	95	0.0384995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	3692.12	75	chr6	167976228	.	T	*	3692.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.207;DP=625;ExcessHet=0.8432;FS=11.423;InbreedingCoeff=-0.0996;MLEAC=1;MLEAF=0.063;MQ=54.08;MQRankSum=3.07;QD=15.19;ReadPosRankSum=0.115;SOR=0.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	7	0	1	2
chr6	167976244	167976288	TGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.365_409del:p.Q122_T137delinsP	.	435	1081	5	0	1	6	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0	0	0.0006	0	0.0003	0.0001921	5	26028	rs773489020	0.0019	0.0015	0.0016	0.0022	0.0099	0.0018	0.0018	0.0092	0.0089	0.0002	0.0028	0.0029	0.0085	0.0063	0.0010	0.0012	0.0026	0.0099	0.0051	0.0049	0.0043	0.0059	0.0156	0.0047	0.0046	0.0117	0.0104	0.0021	0.0075	0.0079	0.0035	0.0156	0.0071	0	0.0051	0.0079	0.0110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	662.39	72	chr6	167976243	.	GTGGGGAAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTT	G	662.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=602;ExcessHet=0;FS=3.162;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=56.54;MQRankSum=-2.111;QD=6.31;ReadPosRankSum=-1.221;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	9	0	1	0
chr6	167976245	167976245	G	0	exonic	HGC6.3	.	.	.	.	448	1014	2	0	58	60	0.000985222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3488.42	72	chr6	167976245	.	G	*	3488.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.015;DP=617;ExcessHet=0.7463;FS=5.921;InbreedingCoeff=-0.1767;MLEAC=1;MLEAF=0.05;MQ=53.54;MQRankSum=1.01;QD=13.63;ReadPosRankSum=-0.907;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	9	0	1	0
chr6	167976249	167976291	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	0	exonic	HGC6.3	.	.	.	.	467	870	90	30	65	215	0.0793651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	4603.07	70	chr6	167976249	.	AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG	*	4603.07	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.24;DP=618;ExcessHet=0.6204;FS=2.257;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.056;MQ=54.81;MQRankSum=-3.714;QD=12.47;ReadPosRankSum=-0.238;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	8	0	1	1
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	730.04	69	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G	730.04	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=688;ExcessHet=0.2065;FS=6.271;InbreedingCoeff=0.2;MLEAC=1;MLEAF=0.05;MQ=56.81;MQRankSum=-5.977;QD=2.19;ReadPosRankSum=-0.411;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	9	0	1	0
chr6	167976258	167976342	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	0	exonic	HGC6.3	.	.	.	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	730.04	69	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	*	730.04	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.41;DP=688;ExcessHet=0.2065;FS=6.271;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=56.81;MQRankSum=-5.977;QD=2.19;ReadPosRankSum=-0.411;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	7	1	2	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	1353.59	68	chr6	167976271	.	T	*	1353.59	.	AC=5;AF=0.313;AN=16;BaseQRankSum=2.93;DP=667;ExcessHet=0.7957;FS=1.88;InbreedingCoeff=-0.0311;MLEAC=6;MLEAF=0.375;MQ=55.16;MQRankSum=-4.962;QD=3.35;ReadPosRankSum=-2.838;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	4	1	3	2
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	3211.87	73	chr6	167976273	.	A	*	3211.87	.	AC=5;AF=0.313;AN=16;DP=670;ExcessHet=0.218;FS=2.453;InbreedingCoeff=0.2593;MLEAC=6;MLEAF=0.375;MQ=55.05;QD=7.93;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	4	1	3	2
chr6	167976313	167976313	T	C	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.A340G:p.M114V	.	462	1045	14	0	1	15	0.00665399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0018826	49	26028	rs36129172	0.0024	0.0016	0.0021	0.0028	0.0160	0.0023	0.0023	0.0148	0.0144	0.0001	0.0052	0.0046	0.0042	0.0082	0.0017	0.0016	0.0033	0.0160	0.0057	0.0064	0.0050	0.0065	0.0131	0.0053	0.0052	0.0093	0.0080	0.0021	0.0132	0.0092	0.0042	0.0131	0.0071	0	0.0062	0.0079	0.0120	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007812	0.000000	0.046667	0.000000	0.000000	0.045455	0.000000	0.000000	0.05556	39.32	55	chr6	167976313	.	T	C	39.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.77;DP=613;ExcessHet=0.2633;FS=0.561;InbreedingCoeff=0.085;MLEAC=1;MLEAF=0.056;MQ=55.52;MQRankSum=-5.63;QD=0.19;ReadPosRankSum=0.497;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	8	0	1	1
chr6	167976313	167976313	T	0	exonic	HGC6.3	.	.	.	.	462	1045	14	0	1	15	0.00665399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	39.32	55	chr6	167976313	.	T	*	39.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.77;DP=613;ExcessHet=0.2633;FS=0.561;InbreedingCoeff=0.085;MLEAC=1;MLEAF=0.056;MQ=55.52;MQRankSum=-5.63;QD=0.19;ReadPosRankSum=0.497;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	8	0	1	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	4030.24	57	chr6	167976329	.	T	*	4030.24	.	AC=2;AF=0.111;AN=18;BaseQRankSum=3.05;DP=641;ExcessHet=0.1398;FS=6.405;InbreedingCoeff=0.3056;MLEAC=2;MLEAF=0.111;MQ=54.23;MQRankSum=-5.5;QD=11.51;ReadPosRankSum=0.615;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	7	0	2	1
chr6	167976347	167976371	GGGGGTCATTCCCCCTGCAGTGTGG	-	exonic	HGC6.3	.	frameshift deletion	HGC6.3:NM_001129895:exon1:c.282_306del:p.H95Lfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1487569600	0.0016	0.0011	0.0014	0.0019	0.0089	0.0015	0.0015	0.0082	0.0079	0.0001	0.0043	0.0034	0.0024	0.0059	0.0012	0.0011	0.0022	0.0089	0.0043	0.0047	0.0038	0.0048	0.0084	0.0040	0.0038	0.0060	0.0052	0.0017	0.0076	0.0064	0.0036	0.0084	0.0045	0	0.0047	0.0061	0.0074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	401.39	62	chr6	167976346	.	TGGGGGTCATTCCCCCTGCAGTGTGG	T	401.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.438;DP=642;ExcessHet=0;FS=2.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.54;MQRankSum=-2.211;QD=3.94;ReadPosRankSum=0.743;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	9	0	1	0
chr6	167976349	167976349	G	0	exonic	HGC6.3	.	.	.	.	482	915	83	38	4	163	0.0799397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3563.83	64	chr6	167976349	.	G	*	3563.83	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.267;DP=668;ExcessHet=0.0135;FS=2.131;InbreedingCoeff=0.4302;MLEAC=1;MLEAF=0.056;MQ=54.48;MQRankSum=1.91;QD=14.31;ReadPosRankSum=1.19;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	8	0	1	1
chr6	167976380	167976415	GAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.238_273del:p.P80_F91del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1194754376	0.0015	0.0011	0.0013	0.0017	0.0082	0.0014	0.0014	0.0074	0.0072	0.0001	0.0031	0.0032	0.0022	0.0052	0.0006	0.0010	0.0021	0.0082	0.0038	0.0043	0.0034	0.0042	0.0072	0.0035	0.0034	0.0052	0.0045	0.0016	0.0069	0.0058	0.0027	0.0072	0.0043	0	0.0041	0.0048	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	311.39	64	chr6	167976379	.	AGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGGGG	A	311.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.621;DP=661;ExcessHet=0;FS=4.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.69;MQRankSum=-2.76;QD=3.05;ReadPosRankSum=1.37;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	9	0	1	0
chr6	167976391	167976391	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C262T:p.P88S	.	460	1054	2	0	6	8	0.000947867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0011	0	0.0211	0.0333	0.0075	0	0.0226	0.0003299	51	154602	rs201618689	4.722e-05	4.747e-05	3.314e-05	6.262e-05	0.0033	3.348e-05	2.906e-05	0.0017	0.0012	0	0	0	0	9.768e-05	0.0033	1.686e-05	0	0.0003	0.0003	0.0004	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0003	8.641e-05	0	0.0002	0.0011	0.0003	0	0.0052	0.0004	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.071885	0.045455	0.106557	0.086207	0.125000	0.071429	0.060811	0.129032	0.05556	775.75	72	chr6	167976391	.	G	A	775.75	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.564;DP=665;ExcessHet=0;FS=5.823;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.04;MQRankSum=-4.511;QD=10.34;ReadPosRankSum=3.03;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	8	0	1	1
chr6	167976421	167976426	AGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.227_232del:p.V76_S78delinsA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1465520346	0.0015	0.0011	0.0013	0.0017	0.0083	0.0014	0.0014	0.0075	0.0072	0.0001	0.0042	0.0034	0.0019	0.0063	0.0006	0.0010	0.0020	0.0083	0.0037	0.0044	0.0034	0.0039	0.0072	0.0034	0.0033	0.0051	0.0043	0.0015	0.0076	0.0054	0.0034	0.0072	0.0034	0	0.0043	0.0048	0.0051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	326.39	84	chr6	167976420	.	GAGAAGA	G	326.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.272;DP=611;ExcessHet=0;FS=2.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.15;MQRankSum=-2.667;QD=3.98;ReadPosRankSum=-0.007;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1151:.	9	0	1	0
chr6	168079054	168079054	C	T	exonic	FRMD1	.	nonsynonymous SNV	FRMD1:NM_024919:exon1:c.G41A:p.R14Q	.	427	1093	2	0	0	2	0.000914077	.	.	.	3442979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.0119910227561	0.0003	0.000399361	0.0007	0.0002	0	0.0001	0.0005	0.0012	0.0011	6.18e-05	0.0006274	97	154602	rs148792644	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0002	0	0	2.519e-05	0.0006	0.0003	0.0007	0.0003	2.319e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0002	0	6.535e-05	0	0	0.0004	0	0.0005	0	0	0.522	0.07211	T	0.585	0.08361	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-1.79	0.83815	D	-0.08	0.08187	N	0.059	0.03069	-1.0314	0.20002	T	0.092	0.35201	T	9	0.008757412	0.00198	T	0.011991	0.30154	T	0.086	0.25016	.	.	0.39724302092	0.39341	0.10664658152109503	0.10594	0.115442601437	0.13019	0.370117366314	0.20849	T	7.48E-4	0.00347	T	-0.504987	0.00536	T	-0.557347	0.16626	T	0.00747774894780189	0.00086	T	0.446155	0.12501	T	0.018854469	0.00409	0.027740719	0.00950	0.018854469	0.00409	0.027740719	0.00950	-4.207	0.26853	T	.	.	0.066	0.02228	B	.	.	-0.972760	0.00811	0.027	0.80540404813554956	0.13251	0.00196	0.01131	N	AEFDBI	0.038899	0.05572	N	-1.94097397550182	0.00282	0.01211215	-2.01278895372859	0.00288	0.01270641	0.999132908356882	0.38535	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.57	-3.14	0.04928	-3.410000	0.00534	-0.341000	0.09816	-1.978000	0.00464	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1739:0.379:0.0:0.447	3.744	0.08066	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1724.43	39	chr6	168079054	.	C	T	1724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.69;DP=766;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.321;SOR=0.776	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	9	0	1	0
chr6	168308729	168308729	C	T	exonic	DACT2	.	nonsynonymous SNV	DACT2:NM_001286350:exon3:c.G518A:p.R173Q,DACT2:NM_214462:exon4:c.G1028A:p.R343Q	.	262	1258	2	0	0	2	0.000794281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00527030613905	.	0.000199681	0.0005	0	0	0	0	0	0	0.0014	7.76e-05	12	154602	rs565295919	0.0002	0.0001	9.032e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3.166e-05	0	3.974e-05	0	0	0	6.025e-05	0.0001	0.0017	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.992e-05	2.405e-05	0	6.531e-05	0	0	0	0	0	0	0.0006	0.477	0.08310	T	0.531	0.13365	T	0.274	0.31856	B	0.024	0.20255	B	0.125297	0.02761	N	2.595170	1	0.08975	N	0	0.06538	N	0.99	0.41750	T	-0.39	0.13611	N	0.022	0.00407	-1.1209	0.02276	T	0.014	0.05753	T	10	0.007455975	0.00169	T	0.00527	0.13464	T	0.014	0.01968	.	.	0.0138822411134	0.00435	0.10793376011238046	0.10722	.	.	0.337544083595	0.16070	T	0.063124	0.32096	T	-0.687504	0.00043	T	-0.795707	0.02012	T	0.00423988368932309	0.00045	T	0.482252	0.14601	T	0.02376384	0.01144	0.026459133	0.00736	0.02376384	0.01144	0.026459133	0.00736	-3.309	0.13853	T	.	.	0.078	0.09094	B	.;.	.;.	-0.377538	0.02298	0.242	0.82108587129531752	0.14023	0.01150	0.04159	N	AEFDBI	.	.	.	-1.74855986605194	0.00684	0.02949879	-1.89256363266324	0.00506	0.02243903	0.99999996485785	0.74766	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	4.24	-8.48	0.00815	-0.564000	0.06027	-8.897000	0.00897	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2503:0.1082:0.0833:0.5582	4.098	0.09472	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1265.43	39	chr6	168308729	.	C	T	1265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.629;DP=478;ExcessHet=0;FS=1.601;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=2.57;SOR=0.546	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr6	168652992	168652992	G	A	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon11:c.G1049A:p.R350Q,SMOC2:NM_022138:exon11:c.G1082A:p.R361Q	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	1	1514	6	1	0	8	0.00263505	.	.	.	3915177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.392	0.00623520625832	.	0.000399361	4.121e-05	9.625e-05	0	0.0002	0	1.5e-05	0	6.057e-05	4.53e-05	7	154602	rs560471120	1.573e-05	1.573e-05	1.361e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	9.24e-06	5.03e-06	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	1.169e-05	3.312e-05	3.478e-05	3.286e-05	3.281e-05	3.857e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.916e-05	1.031e-05	7.226e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.021	0.49117	D	0.078	0.42614	T	0.99	0.90584	D	0.913	0.88582	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	1.59	0.40313	L	1.22	0.37052	T	-3.03	0.62747	D	0.864	0.90704	-0.8630	0.51046	T	0.148	0.47416	T	10	0.7356166	0.74598	D	0.006235	0.16347	T	0.392	0.70764	0.556	0.67409	0.647389606501	0.64446	0.6102758137145897	0.60959	0.608645133692	0.55632	0.830171823502	0.86588	D	0.222487	0.58635	T	0.055945	0.59103	T	0.107013	0.77376	D	0.465917706489563	0.31382	T	0.977402	0.93000	D	0.40818995	0.61295	0.2829757	0.54288	0.40818995	0.61296	0.2829757	0.54287	-9.938	0.73540	D	.	.	0.638	0.70434	P	.;.	.;.	4.916742	0.80938	27.4	0.99943119907166722	0.99848	0.99173	0.92306	D	AEFDBI	0.910801	0.86921	D	0.611107721126099	0.73876	6.038306	0.54043891997864	0.70736	5.549039	0.999999993066018	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	9.186000	0.94032	11.182000	0.88348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:1.0:0.0	16.631	0.84889	994	0.00715	SPARC/Testican, calcium-binding domain|EF-hand domain|SMOC-2, extracellular calcium-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1348.43	33	chr6	168652992	.	G	A	1348.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.956;DP=398;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=3.41;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr6	168664103	168664103	A	G	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon12:c.A1315G:p.N439D,SMOC2:NM_022138:exon12:c.A1348G:p.N450D	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	4	1504	13	1	0	15	0.00496196	.	.	.	710334	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0059	0.00219649	0.0054	0.0016	0.0024	0	0.0112	0.0076	0.0067	0.0019	0.0052845	817	154602	rs118133242	0.0058	0.0058	0.0057	0.0058	0.0061	0.0057	0.0056	0.0060	0.0060	0.0007	0.0031	0.0148	0	0.0107	0.0058	0.0061	0.0056	0.0016	0.0061	0.0061	0.0062	0.0060	0.0082	0.0058	0.0057	0.0076	0.0074	0.0011	0	0.0059	0.0181	0	0.0143	0.0068	0.0082	0.0080	0.0012	0.166	0.49613	T	0.042	0.50514	D	0.034	0.36363	B	0.025	0.31211	B	0.011281	0.29595	N	0.187332	0.988284	0.24427	N	0.895	0.22405	L	1.37	0.34253	T	-0.99	0.38734	N	0.342	0.41853	-1.0596	0.11855	T	0.021	0.08824	T	10	0.006231904	0.00140	T	.	.	.	0.019	0.03383	.	.	0.3691244813	0.36518	0.1196677143027038	0.11893	0.189727535353	0.21295	0.489148974419	0.37320	T	0.027255	0.19999	T	-0.539061	0.00339	T	-0.536713	0.18621	T	0.00268472858241418	0.00028	T	0.633837	0.28590	T	0.07335905	0.16386	0.08228509	0.18768	0.06620996	0.14223	0.08228509	0.18767	-3.199	0.12468	T	.	.	0.096	0.34470	B	.;.;.	.;.;.	1.529079	0.19621	14.36	0.99333313551211133	0.59856	0.10268	0.15821	N	AEFBI	0.082443	0.16692	N	-0.565855201786278	0.19989	1.050462	-0.552206593589895	0.20748	1.119227	7.69483742683958E-4	0.07776	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.56	2.39	0.28492	1.086000	0.30464	1.514000	0.27045	0.756000	0.94297	0.066000	0.21956	0.000000	0.08366	0.696000	0.34018	0.8689:0.0:0.1311:0.0	5.465	0.15932	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003064	0.000000	0.004087	0.014620	0.000000	0.000000	0.000000	0.003817	0.05	436.43	35	chr6	168664103	.	A	G	436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.274;DP=342;ExcessHet=0;FS=1.037;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=-0.643;SOR=0.963	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1092	9	0	1	0
chr6	169221478	169221478	G	A	exonic	THBS2	.	nonsynonymous SNV	THBS2:NM_001381939:exon19:c.C3149T:p.T1050M,THBS2:NM_001381942:exon20:c.C3092T:p.T1031M,THBS2:NM_003247:exon20:c.C3323T:p.T1108M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.911	0.281180469365	7.7e-05	0.00159744	0.0005	0	0.0003	0	0	1.502e-05	0	0.0034	0.0004657	72	154602	rs139601458	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	5.974e-05	0.0002	0	0.0001	1.878e-05	0.0003	8.993e-06	0.0003	0.0027	0.0001	0.0001	8.995e-05	0.0002	0.0033	8.163e-05	6.72e-05	0.0021	0.0017	0	0	0	0	0	0	0	4.41e-05	0	0.0033	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000745	0.42006	U	0.000000	0.999998	0.58761	D	2.99	0.85699	M	-3.8	0.95696	D	-4.78	0.80510	D	0.921	0.92433	1.051	0.98146	D	0.919	0.97335	D	10	0.022021174	0.00540	T	0.28118	0.90236	D	0.911	0.97624	.	.	0.971282834433	0.97096	0.7179414104728662	0.71737	1.45617441021	0.86253	0.745440065861	0.73773	T	0.75806	0.93423	D	0.201918	0.74071	D	0.514528	0.94938	D	0.244717964715307	0.22635	T	0.862414	0.55771	D	0.31325093	0.54066	0.21522929	0.46104	0.31325093	0.54066	0.21522929	0.46103	-11.013	0.79729	D	.	.	0.229	0.48209	B	.;.;.	.;.;.	5.222944	0.87663	29.3	0.9991791806071646	0.98518	0.96340	0.68660	D	AEFDBHCI	0.913334	0.87518	D	0.843644325339001	0.88743	9.694596	0.790621452120917	0.89132	9.85177	0.999999999999998	0.74766	0.743674	0.98306	0	0.573888	0.26702	0	0.630245	0.45026	0	0.613276	0.41899	0	.	.	4.92	4.92	0.64147	9.306000	0.95285	9.893000	0.82289	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:0.0:1.0:0.0	18.147	0.89592	994	0.00715	Thrombospondin, C-terminal|Thrombospondin, C-terminal;.;Thrombospondin, C-terminal|Thrombospondin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1375.43	35	chr6	169221478	.	G	A	1375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.725;DP=471;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.769;SOR=0.762	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	9	0	1	0
chr6	169231345	169231345	G	A	exonic	THBS2	.	nonsynonymous SNV	THBS2:NM_001381940:exon14:c.C2231T:p.A744V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.29	5	chr6	169231345	.	G	A	69.29	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=21;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.32;ReadPosRankSum=0.319;SOR=0.916	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,31	6	0	1	3
chr6	169636488	169636488	G	T	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon14:c.C1313A:p.S438Y,WDR27:NM_001202550:exon16:c.C1505A:p.S502Y,WDR27:NM_182552:exon19:c.C1886A:p.S629Y	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	.	0.00139776	0.0018	0	8.654e-05	0	0	0	0.0011	0.0132	0.0014942	231	154602	rs368366196	0.0008	0.0009	0.0005	0.0012	0.0137	0.0008	0.0008	0.0131	0.0128	5.998e-05	0	0	2.524e-05	0	0.0005	1.261e-05	0.0008	0.0137	0.0004	0.0004	0.0001	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	0	0	0	0	0	0	0	0	0	0.0122	0.162	0.31235	T	0.029	0.54541	D	0.969	0.56768	D	0.742	0.55764	P	0.910468	0.08556	N	0.957561	1	0.08975	N	.	.	.	4.92	0.01404	T	-2.18	0.49187	N	0.38	0.42149	-1.0778	0.07781	T	0.024	0.10148	T	10	0.0055630505	0.00123	T	.	.	.	0.074	0.21613	0.438	0.49157	0.0920862733494	0.08535	0.22242305592860523	0.22157	0.155788624017	0.17585	0.318107306957	0.13134	T	.	.	.	-0.548297	0.00299	T	-0.54869	0.17451	T	0.0362154092553473	0.03018	T	0.738226	0.35599	T	.	.	.	.	.	.	.	.	-10.733	0.80285	D	.	.	0.149	0.32851	B	.;.	.;.	2.558865	0.33135	19.25	0.88509531089104054	0.18033	0.04201	0.09709	N	AEFGBI	0.096747	0.19526	N	-0.371706082549989	0.26482	1.445621	-0.442100829068884	0.23773	1.298249	0.0829988894724713	0.15915	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.613276	0.41899	0	.	.	4.98	4.09	0.47038	1.796000	0.38428	5.810000	0.50000	0.589000	0.31548	0.014000	0.18986	0.988000	0.31051	0.472000	0.28386	0.0:0.1931:0.671:0.1359	9.205	0.36444	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	394.43	36	chr6	169636488	.	G	T	394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.659;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.8;ReadPosRankSum=-1.957;SOR=0.814	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	9	0	1	0
chr6	169662385	169662385	C	T	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon4:c.G371A:p.G124E,WDR27:NM_001202550:exon6:c.G563A:p.G188E,WDR27:NM_001350625:exon8:c.G740A:p.G247E,WDR27:NM_001350624:exon9:c.G740A:p.G247E,WDR27:NM_182552:exon9:c.G944A:p.G315E	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0004	0.00519169	0.0024	0	0	0.0251	0.0009	0.0006	0.0045	0.0016	0.0022121	342	154602	rs117912086	0.0010	0.0010	0.0010	0.0010	0.0226	0.0010	0.0010	0.0214	0.0209	0	2.236e-05	0.0002	0.0226	0.0011	0.0002	0.0002	0.0015	0.0022	0.0013	0.0013	0.0011	0.0016	0.0268	0.0012	0.0011	0.0232	0.0218	2.405e-05	0	6.534e-05	0.0003	0.0268	0.0008	0	0.0003	0.0009	0.0052	0.613	0.12469	T	0.434	0.13557	T	0.42	0.35330	B	0.155	0.34417	B	0.653589	0.05938	N	1.191300	1	0.08975	N	.	.	.	2.06	0.21666	T	-1.3	0.35194	N	0.22	0.24634	-1.0014	0.29516	T	0.008	0.02926	T	10	0.0034893453	0.00062	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.20662551734677995	0.20578	0.0247552032624	0.02524	0.240888267756	0.02870	T	.	.	.	-0.572011	0.00215	T	-0.574158	0.15070	T	0.00569031873800063	0.00062	T	0.577542	0.20782	T	.	.	.	.	.	.	.	.	-4.014	0.24013	T	.	.	0.092	0.13690	B	.;.;.	.;.;.	0.164172	0.05541	2.002	0.25811547206820651	0.01207	0.01587	0.05162	N	AEFDBI	0.029772	0.02872	N	-1.12437280839479	0.06212	0.2853535	-1.14874803440595	0.06790	0.3280572	0.326185893783615	0.19436	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.44	1.03	0.19161	-0.104000	0.10893	-0.243000	0.10574	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.268:0.2322:0.4998	3.068	0.05845	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	865.43	34	chr6	169662385	.	C	T	865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.459;DP=395;ExcessHet=0;FS=1.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.393;SOR=0.601	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	9	0	1	0
chr6	169769592	169769592	A	G	exonic	ERMARD	.	nonsynonymous SNV	ERMARD:NM_001278532:exon11:c.A734G:p.H245R,ERMARD:NM_001278531:exon12:c.A1112G:p.H371R,ERMARD:NM_001278533:exon12:c.A1112G:p.H371R,ERMARD:NM_018341:exon12:c.A1112G:p.H371R	.	430	1050	38	4	0	46	0.0214352	.	.	.	369028	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.047	.	0.0087	0.00738818	0.0120	0.0014	0.0051	0.0001	0.0287	0.0145	0.0170	0.0129	0.011093	1715	154602	rs61738268	0.0094	0.0094	0.0092	0.0096	0.0177	0.0092	0.0092	0.0149	0.0139	0.0009	0.0039	0.0275	0.0001	0.0256	0.0177	0.0085	0.0114	0.0133	0.0082	0.0082	0.0073	0.0090	0.0126	0.0078	0.0076	0.0101	0.0092	0.0017	0.0011	0.0070	0.0305	0	0.0264	0.0170	0.0088	0.0071	0.0126	0.975	0.04277	T	0.542	0.09690	T	0.001	0.07471	B	0.004	0.10090	B	0.305256	0.14528	N	0.650998	1	0.08975	N	-0.525	0.02545	N	1.36	0.35590	T	-0.12	0.21215	N	0.143	0.14338	-0.9836	0.34164	T	0.017	0.07045	T	10	0.0032638013	0.00056	T	.	.	.	0.047	0.12962	.	.	.	.	0.31609896173836505	0.31522	0.0373888473115	0.03961	.	.	.	0.008987	0.08212	T	-0.67989	0.00048	T	-0.73836	0.03960	T	0.000135009205630534	0.00001	T	0.79692	0.44603	T	0.037723392	0.04891	0.053436194	0.09000	0.033569187	0.03603	0.05691626	0.10254	-8.293	0.63532	D	0.08152081124655977	0.04218	0.096	0.21578	B	.;.;.;.;.	.;.;.;.;.	-0.733426	0.01246	0.064	0.18575656299565155	0.00590	0.00549	0.02518	N	AEFBI	0.024146	0.01450	N	-1.42448751391802	0.02425	0.1070656	-1.4358365163864	0.02900	0.1343124	0.478738286159151	0.20768	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.34	-4.53	0.03217	-1.579000	0.02227	-1.391000	0.05549	-0.211000	0.08354	0.000000	0.06391	0.000000	0.08366	0.863000	0.40966	0.816:0.0:0.184:0.0	15.502	0.75442	929	0.16858	.;.;.;.;.	WDR27|WDR27	Cells_Cultured_fibroblasts|Heart_Left_Ventricle	ERMARD	Skin_Not_Sun_Exposed_Suprapubic	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.018630	0.005051	0.016304	0.014620	0.050000	0.000000	0.036585	0.026515	0.05	513.43	33	chr6	169769592	.	A	G	513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.529;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.659;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	9	0	1	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	14892.7	98	chr6	170561964	.	G	*	14892.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.521;DP=1587;ExcessHet=1.5895;FS=1.983;InbreedingCoeff=-0.25;MLEAC=5;MLEAF=0.25;MQ=59.98;MQRankSum=0;QD=17.24;ReadPosRankSum=3.16;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:2,0:97:99:1|1:170561949_GCAA_G:3423,2749,2568:170561949	5	0	5	0
chr7	259906	259906	G	A	exonic	FAM20C	.	nonsynonymous SNV	FAM20C:NM_020223:exon10:c.G1681A:p.V561M	Raine syndrome, Autosomal recessive	0	1492	30	0	0	30	0.00995355	.	.	.	190892	not_provided|not_specified|Lethal_osteosclerotic_bone_dysplasia	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009821,MedGen:C1850106,OMIM:259775,Orphanet:1832	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.222	.	0.0007	0.0219649	0.0202	0.0013	0.0143	0.0682	0	0.0007	0.0256	0.0367	0.0034282	530	154602	rs145750007	0.0046	0.0044	0.0037	0.0056	0.0720	0.0045	0.0045	0.0697	0.0687	0.0010	0.0003	3.975e-05	0.0720	5.866e-05	0.0072	0.0003	0.0080	0.0372	0.0043	0.0043	0.0033	0.0053	0.0673	0.0040	0.0039	0.0614	0.0592	0.0009	0	0.0015	0	0.0673	0	0.0068	0.0004	0.0043	0.0429	0.069	0.35537	T	0.087	0.40747	T	0.607	0.39488	P	0.254	0.39164	B	.	.	.	.	0.610006	0.32613	D	.	.	.	-1.07	0.76948	T	-1.34	0.33401	N	0.122	0.11340	-0.8742	0.50211	T	0.033	0.14073	T	9	0.0035103261	0.00063	T	.	.	.	0.222	0.51872	.	.	.	.	0.37047289980225623	0.36961	0.951736113899	0.72662	0.487796187401	0.37133	T	0.230689	0.59682	T	-0.443181	0.01239	T	-0.359908	0.38063	T	0.0254470733060737	0.01331	T	0.727827	0.34232	T	0.12167461	0.28608	0.11359529	0.27415	0.12167461	0.28608	0.11359529	0.27414	-7.543	0.57912	D	.	.	0.114	0.22825	B	.	.	1.474687	0.18991	14.03	0.95953911291064109	0.28281	0.55345	0.29841	D	AEFDBI	0.139561	0.26119	N	-0.556700551778978	0.20274	1.067582	-0.595014695052103	0.19622	1.053619	8.44857575494831E-4	0.07902	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.39	-0.54	0.11268	1.508000	0.35376	1.281000	0.25351	-0.259000	0.06933	1.000000	0.71638	0.497000	0.25183	0.038000	0.14061	0.6379:0.1588:0.2032:0.0	6.088	0.19200	.	.	FAM20, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009722	0.000000	0.000000	0.014151	0.000000	0.000000	0.006579	0.027027	0.05	1778.43	34	chr7	259906	.	G	A	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.49;DP=764;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-0.238;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800:.	9	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	641.49	22	chr7	290725	.	C	G	641.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.31;DP=256;ExcessHet=5.3821;FS=276.35;InbreedingCoeff=-0.5144;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.583;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:8:.:.:0,8,166:.	3	0	6	1
chr7	291481	291481	C	T	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon3:c.C695T:p.T232I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39381117	0.55081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420658	0.11177	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63205	A	.	.	2.480284	0.31981	18.91	0.61842640952053307	0.06811	0.96253	0.68242	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999872226526741	0.44625	0.095506	0.02484	0	0.063388	0.01293	0	0.104817	0.03109	0	0.109499	0.03221	0	0.674181	0.42264	4.55	4.55	0.55429	4.013000	0.56850	3.862000	0.40142	-0.300000	0.06199	0.998000	0.41325	0.220000	0.23707	0.057000	0.15750	0.0:0.8423:0.1577:0.0	13.431	0.60507	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	37.32	3	chr7	291481	.	C	T	37.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.967;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,29:.	8	0	1	1
chr7	500473	500473	G	A	exonic	PDGFA	.	nonsynonymous SNV	PDGFA:NM_002607:exon6:c.C607T:p.R203W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0330417044618	7.7e-05	.	4.971e-05	0	0	0	0.0006	1.511e-05	0	6.06e-05	3.88e-05	6	154602	rs375414569	2.6e-05	2.599e-05	2.995e-05	2.2e-05	0.0002	1.933e-05	1.692e-05	1.093e-05	8.81e-06	0	2.236e-05	0	0	0.0002	0.0002	1.709e-05	3.312e-05	2.319e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	6.545e-05	1.715e-05	1.129e-05	.	.	0	0	6.545e-05	0	0	0.0004	0	0	0.0005	0	0.074	0.34621	T	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.029207	0.25487	N	0.416661	0.951265	0.81001	D	1.745	0.45235	L	0.6	0.53731	T	-1.46	0.35792	N	0.397	0.43803	-0.5979	0.64903	T	0.224	0.58780	T	10	0.24633685	0.41897	T	0.033042	0.54698	D	0.166	0.42578	.	.	0.440341789592	0.43654	0.47662287027853545	0.47582	0.425836088096	0.42978	0.84375077486	0.88665	D	0.468893	0.80264	T	-0.0929328	0.37592	T	-0.18974	0.55614	T	0.608726978302002	0.36749	D	0.686231	0.29475	T	0.21319506	0.43692	0.2958116	0.55613	0.21319506	0.43692	0.2958116	0.55612	-7.245	0.55804	T	.	.	0.389	0.58925	A	.	.	3.464331	0.48298	22.6	0.99758695197400538	0.84851	0.83460	0.42576	D	AEFBCI	0.590982	0.58726	D	0.429299431227304	0.63039	4.530276	0.43480849839784	0.63747	4.614805	0.999309955274223	0.39077	0.372202	0.05800	0	0.546412	0.12157	0	0.486962	0.07600	0	0.508809	0.08732	0	.	.	5.34	4.44	0.53164	3.841000	0.55557	6.419000	0.55610	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8499:0.1501	14.291	0.65833	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1633.43	34	chr7	500473	.	G	A	1633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=490;ExcessHet=0;FS=4.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=0.287;SOR=0.854	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	9	0	1	0
chr7	822891	822962	CACACACACGGCCCTGTGGCCACCCGTGAATTCCCACACACACACGGCCCTGTGGCCACCCGTGAATTCCCA	-	exonic	SUN1	.	nonframeshift deletion	SUN1:NM_001367651:exon2:c.126_197del:p.V51_P74del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	77.9	1	chr7	822890	.	GCACACACACGGCCCTGTGGCCACCCGTGAATTCCCACACACACACGGCCCTGTGGCCACCCGTGAATTCCCA	G	77.9	.	AC=2;AF=0.125;AN=16;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;QD=30.59;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	7	1	0	2
chr7	843397	843397	G	A	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001130965:exon5:c.G535A:p.A179T,SUN1:NM_001367636:exon5:c.G385A:p.A129T,SUN1:NM_001367644:exon5:c.G385A:p.A129T,SUN1:NM_001367645:exon5:c.G385A:p.A129T,SUN1:NM_001367646:exon5:c.G385A:p.A129T,SUN1:NM_001367647:exon5:c.G385A:p.A129T,SUN1:NM_001367648:exon5:c.G385A:p.A129T,SUN1:NM_001367649:exon5:c.G385A:p.A129T,SUN1:NM_001367655:exon5:c.G385A:p.A129T,SUN1:NM_001367660:exon5:c.G385A:p.A129T,SUN1:NM_001367662:exon5:c.G385A:p.A129T,SUN1:NM_001367666:exon5:c.G385A:p.A129T,SUN1:NM_001367667:exon5:c.G385A:p.A129T,SUN1:NM_001367668:exon5:c.G385A:p.A129T,SUN1:NM_001367670:exon5:c.G385A:p.A129T,SUN1:NM_001367671:exon5:c.G385A:p.A129T,SUN1:NM_001367673:exon5:c.G385A:p.A129T,SUN1:NM_001367679:exon5:c.G385A:p.A129T,SUN1:NM_001367680:exon5:c.G385A:p.A129T,SUN1:NM_001367681:exon5:c.G385A:p.A129T,SUN1:NM_001367684:exon5:c.G385A:p.A129T,SUN1:NM_001367686:exon5:c.G385A:p.A129T,SUN1:NM_001367689:exon5:c.G385A:p.A129T,SUN1:NM_001367691:exon5:c.G385A:p.A129T,SUN1:NM_001367695:exon5:c.G346A:p.A116T,SUN1:NM_001367701:exon5:c.G385A:p.A129T,SUN1:NM_001367706:exon5:c.G385A:p.A129T,SUN1:NM_025154:exon5:c.G385A:p.A129T,SUN1:NM_001171946:exon6:c.G535A:p.A179T,SUN1:NM_001367633:exon6:c.G535A:p.A179T,SUN1:NM_001367638:exon6:c.G535A:p.A179T,SUN1:NM_001367640:exon6:c.G535A:p.A179T,SUN1:NM_001367641:exon6:c.G535A:p.A179T,SUN1:NM_001367642:exon6:c.G535A:p.A179T,SUN1:NM_001367643:exon6:c.G535A:p.A179T,SUN1:NM_001367651:exon6:c.G754A:p.A252T,SUN1:NM_001367653:exon6:c.G535A:p.A179T,SUN1:NM_001367664:exon6:c.G535A:p.A179T,SUN1:NM_001367665:exon6:c.G535A:p.A179T,SUN1:NM_001367669:exon6:c.G562A:p.A188T,SUN1:NM_001367672:exon6:c.G535A:p.A179T,SUN1:NM_001367674:exon6:c.G535A:p.A179T,SUN1:NM_001367675:exon6:c.G535A:p.A179T,SUN1:NM_001367676:exon6:c.G535A:p.A179T,SUN1:NM_001367677:exon6:c.G535A:p.A179T,SUN1:NM_001367678:exon6:c.G535A:p.A179T,SUN1:NM_001367682:exon6:c.G535A:p.A179T,SUN1:NM_001367683:exon6:c.G535A:p.A179T,SUN1:NM_001367685:exon6:c.G535A:p.A179T,SUN1:NM_001367687:exon6:c.G535A:p.A179T,SUN1:NM_001367688:exon6:c.G535A:p.A179T,SUN1:NM_001367690:exon6:c.G535A:p.A179T,SUN1:NM_001367692:exon6:c.G535A:p.A179T,SUN1:NM_001367693:exon6:c.G535A:p.A179T,SUN1:NM_001367694:exon6:c.G535A:p.A179T,SUN1:NM_001367696:exon6:c.G535A:p.A179T,SUN1:NM_001367697:exon6:c.G535A:p.A179T,SUN1:NM_001367698:exon6:c.G535A:p.A179T,SUN1:NM_001367699:exon6:c.G535A:p.A179T,SUN1:NM_001367700:exon6:c.G535A:p.A179T,SUN1:NM_001367702:exon6:c.G535A:p.A179T,SUN1:NM_001367703:exon6:c.G535A:p.A179T,SUN1:NM_001367704:exon6:c.G535A:p.A179T,SUN1:NM_001367705:exon6:c.G535A:p.A179T,SUN1:NM_001171945:exon7:c.G598A:p.A200T,SUN1:NM_001367634:exon7:c.G535A:p.A179T	.	.	.	.	.	.	.	.	.	.	.	564423	Emery-Dreifuss_muscular_dystrophy|not_specified	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.00779832122394	0.0003	.	0.0002	0.0001	8.7e-05	0.0002	0	0.0002	0	0	0.0001358	21	154602	rs200430189	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	8.966e-05	0	0.0003	0	0	0.0004	0.0003	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	9.619e-05	0	0	0	0.0006	0	0	0.0003	0.0005	0	0.949	0.03555	T	0.424	0.13953	T	0.231	0.30614	B	0.016	0.17743	B	0.044227	0.01930	N	2.539770	1	0.08975	N	0.345	0.11182	N	0.88	0.46028	T	-0.9	0.24244	N	0.06	0.07811	-1.0179	0.24398	T	0.036	0.15509	T	10	0.049177527	0.04470	T	0.007798	0.20694	T	0.185	0.45933	.	.	0.41960043425	0.41580	0.07148267192110586	0.07085	0.0977788735348	0.11029	0.207494229078	0.00710	T	0.003365	0.02809	T	-0.495679	0.00605	T	-0.604847	0.12406	T	0.0148494069140354	0.00314	T	0.594241	0.21993	T	.	.	.	.	.	.	.	.	-3.968	0.23323	T	.	.	0.072	0.08176	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.486699	0.01909	0.159	0.95866221888265046	0.28033	0.02155	0.06334	N	AEFDBI	0.037644	0.05207	N	-1.42474592065724	0.02423	0.1069684	-1.56124812319271	0.01899	0.08663016	0.999994354915697	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.4	-8.8	0.00705	-1.211000	0.03106	-1.669000	0.04949	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3838:0.1856:0.2464:0.1842	0.745	0.00918	900	0.24599	.;.;SUN domain-containing protein 1, N-terminal;.;.;.;SUN domain-containing protein 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1350.43	37	chr7	843397	.	G	A	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=488;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.449;SOR=0.67	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr7	1057919	1057919	G	A	exonic	GPR146	.	nonsynonymous SNV	GPR146:NM_001303473:exon2:c.G404A:p.R135Q,GPR146:NM_138445:exon2:c.G404A:p.R135Q,GPR146:NM_001303474:exon3:c.G404A:p.R135Q	.	426	1077	19	0	0	19	0.00874367	.	.	.	2828175	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.345	0.0120507066438	0.0012	0.000998403	0.0017	0	0.0009	0.0001	0	0.0016	0.0011	0.0055	0.0015912	246	154602	rs61997249	0.0018	0.0018	0.0014	0.0022	0.0063	0.0018	0.0017	0.0051	0.0050	0.0004	0.0008	0.0033	5.546e-05	2.124e-05	0.0063	0.0015	0.0027	0.0056	0.0011	0.0011	0.0011	0.0010	0.0046	0.0009	0.0009	0.0031	0.0026	0.0003	0	0.0007	0.0043	0.0006	0	0.0102	0.0013	0.0038	0.0046	0.045	0.41637	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.000001	0.84330	D	0.054412	1	0.81001	D	2.095	0.58118	M	1.22	0.37052	T	-1.76	0.41618	N	0.902	0.90251	-0.9929	0.31853	T	0.154	0.48412	T	10	0.013405383	0.00284	T	0.012051	0.30270	T	0.345	0.66676	.	.	0.533421582741	0.52991	0.4729941476133159	0.47218	0.455112802613	0.45190	0.781489372253	0.79152	T	0.050016	0.28474	T	-0.186421	0.22784	T	-0.0389143	0.67775	D	0.0399730544896217	0.03685	T	0.934007	0.75281	D	0.30338016	0.53206	0.1801791	0.40800	0.30338016	0.53206	0.1801791	0.40800	-3.872	0.21884	T	.	.	0.123	0.25817	B	.;.	.;.	4.389774	0.67742	25.1	0.9989422229020064	0.96742	0.98932	0.88807	D	AEFDGBI	0.850199	0.76702	D	0.473879809135591	0.65568	4.839104	0.440952117407391	0.64137	4.662197	0.999999999999968	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.09	5.09	0.68647	9.209000	0.94206	8.520000	0.77419	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.0:0.0:1.0:0.0	17.471	0.87538	912	0.21483	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011593	0.015152	0.013587	0.000000	0.000000	0.017241	0.018405	0.011364	0.05	2683.43	41	chr7	1057919	.	G	A	2683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.813;DP=593;ExcessHet=0;FS=1.146;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.63;SOR=0.577	GT:AD:DP:GQ:PL	0/1:79,110:189:99:2695,0,1720	9	0	1	0
chr7	1434651	1434651	T	G	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon17:c.A2660C:p.K887T	.	427	1051	44	0	0	44	0.0205033	.	.	.	710839	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	0.0038	0.00559105	0.0075	0.0004	0.0084	0	0	0.0071	0.0165	0.0227	0.0064747	1001	154602	rs138745697	0.0044	0.0045	0.0039	0.0049	0.0215	0.0043	0.0042	0.0183	0.0172	0.0009	0.0044	0.0545	2.55e-05	0.0002	0.0215	0.0026	0.0072	0.0163	0.0038	0.0038	0.0037	0.0039	0.0168	0.0035	0.0034	0.0138	0.0127	0.0005	0.0022	0.0026	0.0527	0	9.411e-05	0.0034	0.0034	0.0057	0.0168	0.004	0.65419	D	0.032	0.53426	D	0.969	0.56768	D	0.483	0.47159	P	0.350276	0.13826	N	0.544804	0.767714	0.34114	D	1.795	0.47270	L	-0.99	0.75911	T	-3.09	0.63438	D	0.329	0.36989	-0.6582	0.62355	T	0.182	0.52934	T	10	0.0042794943	0.00086	T	.	.	.	0.072	0.21020	.	.	0.813371712031	0.81161	0.498556905756521	0.49776	0.0563641266725	0.06225	0.314815610647	0.12636	T	0.031948	0.22272	T	-0.361974	0.04019	T	-0.279102	0.46896	T	0.0432402127885874	0.04282	T	0.793221	0.43505	T	0.1289492	0.30132	0.13869622	0.33115	0.11091681	0.26213	0.13869622	0.33115	-11.399	0.81801	D	.	.	0.216	0.44514	B	.	.	2.476055	0.31918	18.89	0.99679674905047677	0.79174	0.72201	0.35348	D	AEFBCI	0.245405	0.36634	N	-0.148444094394642	0.35299	2.025895	-0.212759033387074	0.31076	1.755432	0.106967155977715	0.16543	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.553173	0.17726	1	.	.	2.97	0.525	0.16266	-0.513000	0.06389	0.069000	0.14235	0.663000	0.56723	0.005000	0.17040	0.973000	0.29867	0.992000	0.67800	0.0:0.1971:0.0:0.8029	6.177	0.19662	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.010101	0.010870	0.020468	0.000000	0.025862	0.012195	0.007576	0.05	1290.43	35	chr7	1434651	.	T	G	1290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.187;DP=443;ExcessHet=0;FS=5.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.235;SOR=1.001	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1163	9	0	1	0
chr7	1436743	1436743	G	A	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon15:c.C2590T:p.R864W	.	.	.	.	.	.	.	.	0.0013	0.17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.168302907795	0.0002	0.000199681	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs201856385	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	6.048e-05	6.833e-05	0.0011	2.556e-05	6.069e-05	0	0.0003	0.0002	3.511e-05	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	4.813e-05	0	0	0.0006	0	0	0	0.0004	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.003041	0.35512	N	0.000000	0.991739	0.58761	D	3.47	0.92451	M	0.57	0.54347	T	-6.31	0.90812	D	0.682	0.68863	-0.3265	0.74237	T	0.349	0.71297	T	10	0.6189525	0.67867	D	0.168303	0.84644	D	0.315	0.63694	.	.	0.689101842501	0.68643	0.5608802423195292	0.56015	0.0766248698432	0.08601	0.417763203382	0.27529	T	0.226634	0.59171	T	-0.18388	0.23160	T	-0.183835	0.56165	T	0.488396027453059	0.32205	T	0.984602	0.94707	D	0.479432	0.65866	0.46500796	0.68951	0.479432	0.65866	0.46500796	0.68951	-9.934	0.73516	D	.	.	0.576	0.67886	P	.	.	3.695457	0.52675	23.3	0.99842932646272198	0.92316	0.84578	0.43661	D	AEFGBI	0.690860	0.65105	D	0.121710957134904	0.47477	2.972859	-0.0292371594749718	0.38400	2.261869	0.745050437036908	0.23272	0.732398	0.92422	0	0.588015	0.36545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.02	0.058	0.13639	1.680000	0.37224	0.303000	0.17000	-0.146000	0.12295	1.000000	0.71638	0.996000	0.32793	0.783000	0.37026	0.0:0.0:0.6282:0.3718	12.906	0.57545	946	0.12043	bMERB domain|bMERB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	674.43	33	chr7	1436743	.	G	A	674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.01;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.038;SOR=0.607	GT:AD:DP:GQ:PL	0/1:27,32:59:99:686,0,525	9	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.1	1624.14	35	chr7	1440649	.	C	T	1624.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.45;DP=508;ExcessHet=0.2348;FS=1.163;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=2.1;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1186:.	8	0	2	0
chr7	1500002	1500002	C	T	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon5:c.G566A:p.R189Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.011478676985	8.1e-05	0.000199681	3.359e-05	0	0	0	0	6.1e-05	0	0	3.23e-05	5	154602	rs373727561	1.437e-05	1.436e-05	1.09e-05	1.788e-05	0.0002	9.24e-06	7.84e-06	1.78e-05	8.93e-06	0	6.71e-05	0	0	0	0.0002	1.169e-05	6.626e-05	0	3.282e-05	3.281e-05	2.569e-05	4.027e-05	7.35e-05	1.26e-05	7.97e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.012	0.54683	D	0.018	0.59732	D	0.999	0.77913	D	0.905	0.64260	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.84	0.47477	T	-1.89	0.44094	N	0.874	0.87157	-0.5709	0.65978	T	0.245	0.61331	T	10	0.6745923	0.70915	D	0.011479	0.29147	T	0.144	0.38394	.	.	0.467752868181	0.46400	0.6305419290404484	0.62988	.	.	0.781977176666	0.79226	T	0.404811	0.76116	T	-0.141948	0.29581	T	-0.135698	0.60489	T	0.457820981740952	0.31085	T	0.972403	0.89999	D	0.24824087	0.47809	0.18927404	0.42266	0.24824087	0.47809	0.18927404	0.42265	-4.369	0.29133	T	.	.	0.630	0.70121	P	.	.	5.234847	0.87878	29.4	0.99928542613738458	0.99222	0.98456	0.82965	D	AEFGBCI	0.920391	0.89228	D	0.633931750576007	0.75333	6.287332	0.588352390884659	0.74101	6.080498	0.999999999999773	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.24	4.24	0.49486	7.529000	0.80843	5.881000	0.50644	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.0:1.0:0.0:0.0	16.860	0.85880	811	0.42639	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	917.43	33	chr7	1500002	.	C	T	917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.809;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=0.694;SOR=0.671	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr7	1540055	1540055	C	T	exonic	MAFK	.	nonsynonymous SNV	MAFK:NM_002360:exon3:c.C151T:p.R51C	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.688	0.675717551094	.	.	4.537e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757019787	5.687e-06	6.84e-06	4.213e-06	7.197e-06	6.257e-05	2.45e-06	1.77e-06	2.428e-05	1.527e-05	0	0	3.963e-05	0	0	0	1.846e-06	0	6.257e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.969	0.72001	D	0.000001	0.62929	D	0.057324	1	0.81001	D	2.785	0.81254	M	-3.05	0.92407	D	-7.21	0.94249	D	0.58	0.60156	0.955	0.96471	D	0.877	0.95925	D	10	0.8949505	0.88846	D	0.675718	0.97304	D	0.688	0.88632	0.652	0.78963	0.793101889391	0.79117	0.8095505869724416	0.80910	2.21285842673	0.95790	0.887241303921	0.94912	D	0.82906	0.95899	D	0.267371	0.80205	D	0.146284	0.79950	D	0.989275813102722	0.79520	D	0.983802	0.94506	D	0.75710946	0.81283	0.6566022	0.79892	0.75710946	0.81285	0.6566022	0.79893	-12.906	0.88972	D	.	.	0.166	0.36633	B	.;.	.;.	5.497103	0.91543	32	0.99903508199495705	0.97502	0.93943	0.59643	D	AEFGBCI	0.615223	0.60224	D	0.610057817364783	0.73810	6.027376	0.530174281800252	0.70030	5.445625	0.999999999999372	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.09	5.09	0.68647	3.094000	0.49919	5.852000	0.50347	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.540	0.90977	769	0.49307	Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain;Basic leucine zipper domain, Maf-type|Basic-leucine zipper domain|Basic-leucine zipper domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1620.43	34	chr7	1540055	.	C	T	1620.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=446;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.12;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,957	9	0	1	0
chr7	1569176	1569176	C	G	exonic	PSMG3	.	nonsynonymous SNV	PSMG3:NM_032302:exon1:c.G164C:p.S55T,PSMG3:NM_001134340:exon2:c.G164C:p.S55T	.	435	1034	51	2	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0065	0.00279553	0.0061	0.0015	0.0061	0	0.0011	0.0083	0.0135	0.0051	0.0061254	947	154602	rs34407549	0.0077	0.0077	0.0076	0.0078	0.0192	0.0076	0.0075	0.0163	0.0153	0.0016	0.0067	0.0120	0	0.0013	0.0192	0.0084	0.0081	0.0064	0.0056	0.0056	0.0061	0.0050	0.0096	0.0053	0.0051	0.0083	0.0079	0.0014	0	0.0096	0.0110	0	0.0008	0.0238	0.0080	0.0109	0.0058	0.046	0.40573	D	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	0.131345	0.18625	N	0.605390	1	0.08975	N	1.89	0.50145	L	.	.	.	-1.06	0.27669	N	0.047	0.05542	-1.0272	0.21363	T	0.056	0.23450	T	9	0.0043592453	0.00089	T	.	.	.	0.035	0.08770	.	.	0.0551355673512	0.04727	0.25536218605587463	0.25450	0.355466565581	0.37310	0.320307970047	0.13468	T	0.014477	0.12316	T	-0.60402	0.00138	T	-0.626784	0.10660	T	0.001732008006068	0.00018	T	0.483152	0.14651	T	0.1694651	0.37464	0.14786984	0.34977	0.1694651	0.37464	0.14786984	0.34977	-3.962	0.23233	T	.	.	0.081	0.08368	B	.;.;.	.;.;.	0.724986	0.10941	7.608	0.50351747369073885	0.04369	0.14202	0.18277	N	ALL	0.216226	0.34150	N	-0.985018016093899	0.08923	0.4202696	-1.05068897391715	0.08693	0.4286672	0.999999999956974	0.74766	0.766844	0.99359	0	0.504199	0.08210	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.43	-0.55	0.11234	0.947000	0.28680	0.471000	0.18712	-0.195000	0.09104	0.251000	0.24859	0.000000	0.08366	0.159000	0.20615	0.0:0.3653:0.1506:0.484	5.261	0.14890	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023666	0.000000	0.035326	0.029240	0.000000	0.025862	0.030488	0.007576	0.05	818.43	33	chr7	1569176	.	C	G	818.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=383;ExcessHet=0;FS=0.907;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-1.614;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	9	0	1	0
chr7	1936767	1936767	C	T	exonic	MAD1L1	.	nonsynonymous SNV	MAD1L1:NM_001304525:exon2:c.G95A:p.R32H,MAD1L1:NM_001304524:exon15:c.G1451A:p.R484H,MAD1L1:NM_001304523:exon16:c.G1727A:p.R576H,MAD1L1:NM_001013836:exon17:c.G1727A:p.R576H,MAD1L1:NM_001013837:exon17:c.G1727A:p.R576H,MAD1L1:NM_003550:exon17:c.G1727A:p.R576H	Lymphoma, somatic (3);Prostate cancer, somatic	0	1514	8	0	0	8	0.00263505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00974158001716	0.0004	.	0.0016	0	0	0	0	0.0026	0	0.0012	0.0005498	85	154602	rs201154265	0.0011	0.0011	0.0011	0.0012	0.0018	0.0011	0.0011	0.0012	0.0012	0.0001	7.808e-05	0.0010	5.347e-05	0.0002	0.0018	0.0013	0.0009	0.0015	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	6.532e-05	0.0009	0	9.409e-05	0	0.0010	0.0019	0.0010	0.16	0.28395	T	0.117	0.39492	T	0.028	0.19712	B	0.014	0.16862	B	0.001842	0.37840	N	0.283615	1	0.08975	N	0.81	0.20779	L	1.88	0.23884	T	-2.39	0.56630	N	0.149	0.19055	-1.0943	0.04854	T	0.037	0.16160	T	10	0.013055682	0.00278	T	0.009742	0.25427	T	0.035	0.08770	.	.	0.202949470691	0.19918	0.1748863263074709	0.17407	0.142616884564	0.16085	0.494232356548	0.38026	T	0.396544	0.75514	T	-0.672914	0.00053	T	-0.752601	0.03386	T	0.0073815817526415	0.00085	T	0.667933	0.27701	T	0.07151845	0.15840	0.10127591	0.24239	0.096358486	0.22694	0.09634044	0.22887	-4.601	0.37844	T	.	.	0.066	0.04198	B	.;.;.;.;.;.	.;.;.;.;.;.	0.011208	0.04358	1.118	0.96024781848136276	0.28486	0.04808	0.10529	N	AEFDGBCI	0.059712	0.11298	N	-1.47780404249584	0.02007	0.08819427	-1.58392639126945	0.01753	0.07975893	0.999999104900415	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.77	-4.92	0.02848	-0.163000	0.09986	-4.350000	0.02203	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.1172:0.3464:0.0:0.5364	6.795	0.22905	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002049	0.000000	0.001366	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	392.43	36	chr7	1936767	.	C	T	392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.031;DP=361;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.486;SOR=0.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,976	9	0	1	0
chr7	2220959	2220960	GG	-	exonic	MAD1L1	.	frameshift deletion	MAD1L1:NM_001304524:exon3:c.119_120del:p.S40Wfs*8	Lymphoma, somatic (3);Prostate cancer, somatic	8	1512	2	0	0	2	0.000660939	.	.	.	3546962	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00678914	0.0015	0.0187	0.0009	0	0	0.0001	0.0012	6.421e-05	0.0002305	6	26028	rs113197514	0.0007	0.0007	0.0008	0.0006	0.0172	0.0006	0.0006	0.0160	0.0156	0.0172	0.0008	0	0	0	0.0019	0.0002	0.0015	6.965e-05	0.0042	0.0042	0.0044	0.0040	0.0142	0.0039	0.0038	0.0133	0.0129	0.0142	0	0.0013	0	0	0	0.0034	0.0002	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1735.39	36	chr7	2220958	.	CGG	C	1735.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=626;ExcessHet=0;FS=2.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.84;SOR=0.877	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	9	0	1	0
chr7	2646946	2646946	C	T	exonic	TTYH3	.	nonsynonymous SNV	TTYH3:NM_025250:exon2:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0764809837884	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324679621	3.453e-06	1.915e-05	2.749e-06	4.164e-06	0.0002	1.01e-06	7.4e-07	1.594e-05	9.37e-06	0	0	0	0	0	0.0002	0	0	4.687e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.63226	D	0.002	0.83351	D	1.0	0.90584	D	0.959	0.70163	D	0.000131	0.49741	D	0.171092	0.999983	0.54805	D	2.64	0.77224	M	2.55	0.13795	T	-2.43	0.63323	N	0.634	0.65930	-1.0716	0.09065	T	0.092	0.35174	T	10	0.4432236	0.58234	T	0.076481	0.72541	D	0.236	0.53931	0.502	0.59460	0.143184338766	0.13958	0.6211951010481327	0.62052	0.388535252049	0.40113	0.751979410648	0.74738	T	0.278326	0.65098	T	-0.0848433	0.38924	T	-0.359648	0.38094	T	0.84624719619751	0.49845	D	0.972403	0.89999	D	0.103265755	0.24407	0.095759876	0.22725	0.103265755	0.24407	0.095759876	0.22724	-9.169	0.68778	D	.	.	0.139	0.48551	B	.;.;.	.;.;.	5.118959	0.85616	28.7	0.99905579275119227	0.97651	0.96808	0.71050	D	ALL	0.661771	0.63188	D	0.476204980437262	0.65704	4.856049	0.416011669079748	0.62563	4.473676	0.99999999999545	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.648423	0.49468	0	0.711	0.71501	0	.	.	4.96	4.05	0.46415	1.838000	0.38851	4.818000	0.45095	0.524000	0.24156	0.985000	0.35982	1.000000	0.68203	0.997000	0.79791	0.1558:0.8442:0.0:0.0	14.175	0.65071	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1147.43	75	chr7	2646946	.	C	T	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=388;ExcessHet=0;FS=0.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-0.767;SOR=0.897	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1096	9	0	1	0
chr7	2649943	2649943	G	A	exonic	TTYH3	.	nonsynonymous SNV	TTYH3:NM_025250:exon7:c.G826A:p.A276T	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0045	0.00399361	0.0013	0.0145	0.0004	0	0	7.533e-05	0.0011	6.058e-05	0.0013001	201	154602	rs149229320	0.0005	0.0005	0.0005	0.0004	0.0139	0.0004	0.0004	0.0129	0.0125	0.0139	0.0007	0	0	0	0.0016	6.655e-05	0.0012	0.0001	0.0043	0.0043	0.0044	0.0042	0.0149	0.0040	0.0039	0.0139	0.0135	0.0149	0	0.0014	0	0	0	0.0034	5.882e-05	0.0033	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.17086	B	0.001	0.11217	B	0.000672	0.42516	N	0.232264	0.999978	0.18878	N	-1.285	0.00728	N	2.81	0.10975	T	1.24	0.01529	N	0.126	0.17691	-0.9292	0.44256	T	0.003	0.01059	T	10	0.010809422	0.00239	T	.	.	.	0.061	0.17616	.	.	0.043077524339	0.03247	0.0669326119661531	0.06631	0.217698442251	0.24293	0.3822504282	0.22576	T	0.063731	0.32250	T	-0.700663	0.00036	T	-0.766907	0.02872	T	0.0140535493901922	0.00272	T	0.325667	0.06705	T	0.018954331	0.00420	0.040233467	0.04303	0.018954331	0.00419	0.040233467	0.04302	-3.851	0.21569	T	.	.	0.058	0.00904	B	.;.;.	.;.;.	1.395890	0.18093	13.54	0.32895994216240459	0.01931	0.21965	0.21585	N	AEFGBI	0.070541	0.14008	N	-0.823829911060705	0.12703	0.6208796	-0.578408465037708	0.20057	1.078889	0.999727139803146	0.42220	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.35	4.35	0.51454	1.623000	0.36618	2.499000	0.33020	-0.040000	0.17491	0.916000	0.31843	1.000000	0.68203	0.755000	0.35964	0.7492:0.0:0.2507:0.0	6.803	0.22947	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.006812	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1517.43	40	chr7	2649943	.	G	A	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=498;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.121;SOR=0.662	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,111,1665	9	0	1	0
chr7	2814361	2814361	C	T	exonic	GNA12	.	nonsynonymous SNV	GNA12:NM_001282441:exon2:c.G83A:p.R28Q	.	431	1056	34	1	0	36	0.0167598	.	.	.	2828235	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.169	.	0.0059	0.00239617	0.0064	0.0016	0.0032	0	0.0015	0.0097	0.0162	0.0030	0.0064423	996	154602	rs151253462	0.0079	0.0080	0.0080	0.0078	0.0254	0.0078	0.0078	0.0221	0.0208	0.0019	0.0042	0.0103	7.562e-05	0.0009	0.0254	0.0091	0.0083	0.0031	0.0059	0.0059	0.0061	0.0058	0.0096	0.0056	0.0055	0.0090	0.0087	0.0016	0	0.0062	0.0092	0.0002	0.0010	0.0442	0.0096	0.0090	0.0037	0.008	0.58626	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.19781	N	.	.	.	-2.08	0.86010	D	1.22	0.01051	N	0.123	0.11483	-0.5180	0.67989	T	0.367	0.72712	T	8	0.004283428	0.00086	T	.	.	.	0.169	0.43123	.	.	0.472011534587	0.46827	.	.	.	.	.	.	.	.	.	.	-0.500656	0.00567	T	-0.47961	0.24487	T	0.00296320149154326	0.00031	T	0.350365	0.07800	T	.	.	.	.	.	.	.	.	-4.401	0.29571	T	.	.	0.104	0.18746	B	.	.	0.980151	0.13573	10.10	0.99304735825804491	0.58759	0.01677	0.05358	N	AEFDBIJ	0.025508	0.01757	N	-0.793627732173815	0.13475	0.6640948	-0.892724837559142	0.12265	0.6299404	0.999991911856854	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.527494	0.11647	0	0.714379	0.83352	0	.	.	2.12	2.12	0.26372	-0.109000	0.10810	-0.377000	0.09567	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	7.776	0.28201	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	712.43	35	chr7	2814361	.	C	T	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.796;DP=364;ExcessHet=0;FS=5.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.746;SOR=1.153	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr7	4783439	4783439	A	G	exonic	AP5Z1	.	nonsynonymous SNV	AP5Z1:NM_001364858:exon3:c.A22G:p.S8G,AP5Z1:NM_014855:exon4:c.A490G:p.S164G	Spastic paraplegia 48, autosomal recessive, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	522686	Hereditary_spastic_paraplegia_48	MONDO:MONDO:0013342,MedGen:C3150901,OMIM:613647,Orphanet:306511	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	.	0.00159744	0.0009	0	8.703e-05	0.0113	0	3.067e-05	0.0011	6.078e-05	0.0007438	115	154602	rs202169962	0.0002	0.0002	0.0003	0.0002	0.0078	0.0002	0.0002	0.0070	0.0068	0	2.237e-05	0	0.0078	0	0	1.619e-05	0.0002	0.0001	0.0004	0.0004	0.0004	0.0004	0.0108	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0.0108	0	0	2.943e-05	0	0	0.352	0.12226	T	0.189	0.28575	T	0.818	0.45651	P	0.167	0.35118	B	0.121729	0.18984	N	0.540472	0.984411	0.24802	N	1.495	0.37439	L	0.84	0.47477	T	-1.59	0.38345	N	0.253	0.28616	-1.0780	0.07741	T	0.047	0.20235	T	10	0.0052919686	0.00116	T	.	.	.	0.019	0.03383	.	.	0.0401082797425	0.02173	0.21220251088373052	0.21136	.	.	0.332176625729	0.15263	T	0.033216	0.22822	T	-0.58374	0.00183	T	-0.60089	0.12738	T	0.019116103758397	0.00619	T	0.669433	0.27806	T	0.03521181	0.04101	0.03242577	0.01976	0.04128214	0.06050	0.041483596	0.04724	-4.258	0.27584	T	0.16403118835802796	0.20246	0.119	0.24363	B	.;.	.;.	1.728246	0.21999	15.44	0.97224564719569506	0.32919	0.02030	0.06086	N	AEFDGBCI	0.020288	0.00786	N	-0.468726729428824	0.23109	1.238737	-0.510561364328534	0.21866	1.184927	0.947777833928344	0.27769	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.66	2.36	0.28258	0.579000	0.23490	4.632000	0.44120	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.248000	0.23210	0.1366:0.0:0.6093:0.2541	5.678	0.17034	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	799.43	56	chr7	4783439	.	A	G	799.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.069;DP=387;ExcessHet=0;FS=1.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.717;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	9	0	1	0
chr7	4800263	4800263	G	A	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon13:c.C2890T:p.R964C	.	432	1053	37	0	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0006	0.00199681	0.0034	0.0003	0.0011	0	0	0.0030	0.0158	0.0159	0.0015459	239	154602	rs200704658	0.0011	0.0012	0.0009	0.0013	0.0161	0.0011	0.0011	0.0134	0.0124	0.0005	0.0007	0.0070	2.722e-05	2.062e-05	0.0161	0.0007	0.0024	0.0052	0.0010	0.0010	0.0009	0.0010	0.0060	0.0008	0.0008	0.0043	0.0037	0.0003	0	0.0011	0.0049	0	9.409e-05	0.0102	0.0009	0.0028	0.0060	0.061	0.37118	T	0.193	0.28210	T	0.001	0.07471	B	0.0	0.01387	B	0.586789	0.11089	N	0.824423	0.999999	0.08975	N	-0.035	0.05024	N	1.08	0.39401	T	-1.42	0.34992	N	0.087	0.06454	-1.0439	0.16148	T	0.040	0.17404	T	10	0.004285276	0.00086	T	.	.	.	0.012	0.01476	.	.	0.159798565429	0.15598	0.3952173417645482	0.39436	0.0535115294369	0.05900	0.273139417171	0.06555	T	0.004797	0.04217	T	-0.602885	0.00140	T	-0.635611	0.09992	T	0.00588679547701272	0.00065	T	0.717528	0.33029	T	0.05840386	0.11744	0.042782318	0.05176	0.05840386	0.11744	0.042782318	0.05175	-5.97	0.46028	T	.	.	0.076	0.06024	B	.	.	1.010739	0.13896	10.46	0.94012572603210043	0.24115	0.05531	0.11423	N	AEFBCI	0.085644	0.17362	N	-1.33126222504903	0.03324	0.1482498	-1.33676038859087	0.03964	0.1860297	0.999248373678898	0.38873	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.02	-1.93	0.07180	0.072000	0.14482	-0.581000	0.08376	-0.712000	0.03928	0.410000	0.26249	0.000000	0.08366	0.112000	0.18829	0.3372:0.2701:0.3927:0.0	5.244	0.14806	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011819	0.000000	0.019126	0.005917	0.000000	0.008621	0.009494	0.019231	0.05	778.43	35	chr7	4800263	.	G	A	778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.047;DP=388;ExcessHet=0;FS=3.468;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.818;SOR=1.197	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	9	0	1	0
chr7	4860226	4860226	C	G	exonic	PAPOLB	.	nonsynonymous SNV	PAPOLB:NM_020144:exon1:c.G1585C:p.G529R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00569580012353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.09621	T	0.088	0.25022	B	0.045	0.24526	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	-1.0270	0.21429	T	0.057	0.23942	T	8	0.12337512	0.23419	T	0.005696	0.14742	T	0.049	0.13647	.	.	0.370608029945	0.36667	0.15260380103135684	0.15182	0.134033539515	0.15102	0.242401435971	0.03010	T	.	.	.	-0.273004	0.11424	T	-0.629928	0.10420	T	0.101087149149884	0.12476	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.	.	1.935340	0.24581	16.45	0.42693050946042072	0.03164	0.95188	0.63763	D	AEFGBI	0.337765	0.43545	N	-0.654240595800082	0.17337	0.8912466	-0.598098565084437	0.19542	1.048975	5.54759051862418E-4	0.07304	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.48	2.66	0.30672	3.737000	0.54781	1.814000	0.28986	0.549000	0.26987	0.997000	0.40164	0.004000	0.18990	0.193000	0.21690	0.0:0.7535:0.1579:0.0886	8.331	0.31348	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1680.43	35	chr7	4860226	.	C	G	1680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.775;DP=476;ExcessHet=0;FS=3.044;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.335;SOR=0.968	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	9	0	1	0
chr7	5064219	5064219	C	G	exonic	RBAK	.	nonsynonymous SNV	RBAK:NM_021163:exon5:c.C763G:p.Q255E,RBAK:NM_001204456:exon6:c.C763G:p.Q255E	.	414	1106	2	0	0	2	0.000903342	.	.	.	3902417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00241158985839	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0004	0.0001229	19	154602	rs374659981	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	2.988e-05	4.475e-05	0	0	0	0.0005	0.0002	0.0002	0.0003	9.854e-05	0.0001	0.0001	8.061e-05	0.0004	6.005e-05	4.879e-05	0.0001	7.896e-05	0	0	0	0	0	0	0.0034	0.0002	0	0.0004	0.151	0.24564	T	0.069	0.43913	T	0.074	0.24142	B	0.024	0.20255	B	0.152723	0.17914	N	0.470650	.	.	.	0.45	0.12780	N	2.47	0.14783	T	-0.21	0.10308	N	0.214	0.23884	-1.0312	0.20066	T	0.023	0.09741	T	8	0.06750217	0.09413	T	0.002412	0.04729	T	0.041	0.10877	.	.	0.350088858571	0.34617	0.0817366805797264	0.08108	0.0867180676216	0.09781	0.374523103237	0.21478	T	0.025505	0.19059	T	-0.399368	0.02337	T	-0.511117	0.21201	T	0.0448010979858898	0.04566	T	0.0210979	0.00117	T	0.09760663	0.23010	0.10446064	0.25090	0.09760663	0.23010	0.10446064	0.25089	-5.699	0.43685	T	.	.	0.081	0.08320	B	.;.	.;.	2.791257	0.36690	20.3	0.97399715569745671	0.33765	0.02447	0.06888	N	AEFDBHCI	0.410154	0.48115	N	-0.445920689455066	0.23879	1.285432	-0.346246898251081	0.26625	1.471891	0.918327378679089	0.26568	0.67177	0.52595	0	0.702456	0.74545	0	0.575934	0.27490	0	0.674467	0.66132	0	.	.	3.67	2.77	0.31614	4.589000	0.60715	4.853000	0.45395	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1944:0.8056:0.0:0.0	10.59	0.44494	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1273.43	95	chr7	5064219	.	C	G	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.945;DP=415;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.285;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1075	9	0	1	0
chr7	5299106	5299106	G	A	exonic	SLC29A4	.	nonsynonymous SNV	SLC29A4:NM_001040661:exon8:c.G1001A:p.R334H,SLC29A4:NM_001300847:exon8:c.G959A:p.R320H,SLC29A4:NM_153247:exon8:c.G1001A:p.R334H	.	.	.	.	.	.	.	.	.	.	.	2398124	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.330	0.648199198921	.	0.000199681	0.0001	0	0	0	0	6.868e-05	0	0.0006	0.0001035	16	154602	rs544632146	6.448e-05	6.704e-05	4.914e-05	7.997e-05	0.0008	5.376e-05	4.99e-05	0.0006	0.0006	0	0	3.841e-05	5.046e-05	1.956e-05	0.0002	1.62e-05	9.962e-05	0.0008	3.283e-05	3.281e-05	1.285e-05	5.371e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.046	0.41364	D	0.064	0.45110	T	0.013	0.70673	B	0.006	0.61339	B	0.000037	0.55875	D	0.115711	0.948416	0.26570	N	2.32	0.66415	M	-1.45	0.80899	T	-1.76	0.41618	N	0.25	0.31478	-0.2904	0.75255	T	0.550	0.83513	D	10	0.0954673	0.17053	T	0.648199	0.97017	D	0.330	0.65226	0.381	0.39807	0.807793822827	0.80599	0.5754158721583091	0.57470	.	.	0.434295833111	0.29797	T	0.055266	0.29957	T	-0.331272	0.06016	T	-0.32533	0.41988	T	0.156597222778792	0.17617	T	0.621038	0.23867	T	0.04360679	0.06825	0.05263738	0.08711	0.04360679	0.06824	0.05263738	0.08710	-8.449	0.64416	D	.	.	0.089	0.11989	B	.;.;.	.;.;.	1.654634	0.21106	15.05	0.98121035520954858	0.38432	0.76808	0.37700	D	AEFBI	0.158258	0.28389	N	-0.337912510430796	0.27719	1.523086	-0.398707540648981	0.25036	1.374445	0.975206641896806	0.29612	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.37	3.48	0.38946	1.080000	0.30390	1.471000	0.26753	-3.387000	0.00090	0.948000	0.32982	0.925000	0.28409	0.017000	0.10941	0.1905:0.0:0.8095:0.0	8.103	0.30031	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1681.43	92	chr7	5299106	.	G	A	1681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.6;DP=650;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.222;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,932	9	0	1	0
chr7	5316000	5316000	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon25:c.C6818T:p.P2273L	.	424	1095	3	0	0	3	0.00136799	.	.	.	722575	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.402	0.0599374742619	0.0014	0.000399361	0.0013	0.0004	0.0005	0	0.0003	0.0020	0	0.0004	0.0012807	198	154602	rs199588962	0.0017	0.0017	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0003	0.0009	0.0015	2.601e-05	0.0004	0.0016	0.0021	0.0015	0.0001	0.0011	0.0011	0.0013	0.0010	0.0019	0.0010	0.0009	0.0016	0.0015	0.0004	0.0033	0.0007	0.0006	0	0.0003	0	0.0019	0.0033	0.0002	0.004	0.65419	D	0.027	0.55759	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999999	0.58761	D	2.28	0.64929	M	1.01	0.41058	T	-3.74	0.71882	D	0.779	0.83066	-0.6896	0.60926	T	0.225	0.58907	T	9	0.07146415	0.10539	T	0.059937	0.67832	D	0.402	0.71558	.	.	0.161926535498	0.15789	0.8899608552836966	0.88966	1.20088527153	0.80543	0.836810827255	0.87608	D	0.074359	0.34920	T	-0.21704	0.18398	T	-0.0822043	0.64743	T	0.0539209452312393	0.06176	T	0.884012	0.65253	D	0.2312289	0.45891	0.23240471	0.48400	0.2312289	0.45892	0.23240471	0.48399	-11.142	0.80431	D	.	.	0.949	0.86751	P	.;.	.;.	4.380093	0.67514	25.1	0.99861956355781112	0.94002	0.98312	0.81520	D	AEFDGBI	0.887818	0.82038	D	0.677035733733018	0.78128	6.809489	0.639610969426782	0.77841	6.75732	0.999998865291197	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.46	4.46	0.53567	9.450000	0.96770	11.653000	0.93904	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	16.693	0.85186	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004075	0.021429	0.001366	0.000000	0.000000	0.000000	0.003731	0.000000	0.05	1007.43	34	chr7	5316000	.	G	A	1007.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.587;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.957;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,929	9	0	1	0
chr7	5370382	5370382	C	G	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon11:c.G4212C:p.E1404D	.	426	1044	48	4	0	56	0.0261194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0015	0.00139776	0.0071	0.0013	0.0079	0.0021	0.0011	0.0036	0.0042	0.0152	0.0017141	265	154602	rs200279443	0.0032	0.0031	0.0027	0.0037	0.0167	0.0031	0.0031	0.0159	0.0156	0.0009	0.0027	0.0041	5.614e-05	0.0013	0.0148	0.0023	0.0041	0.0167	0.0022	0.0022	0.0021	0.0022	0.0116	0.0020	0.0019	0.0092	0.0083	0.0008	0.0264	0.0022	0.0035	0.0002	0.0009	0.0034	0.0022	0.0038	0.0116	0.164	0.23360	T	0.227	0.25362	T	0.176	0.28893	B	0.07	0.27859	B	0.272151	0.15107	N	0.487974	0.929546	0.27093	N	1.12	0.28775	L	2.46	0.15028	T	-1.8	0.42384	N	0.171	0.18239	-1.0408	0.17071	T	0.038	0.16246	T	10	0.002628386	0.00040	T	.	.	.	0.044	0.11924	0.539	0.65018	0.043077524339	0.03247	0.16282630156312533	0.16202	0.0415005756908	0.04460	0.483406841755	0.36525	T	0.026167	0.19419	T	-0.671544	0.00054	T	-0.723777	0.04615	T	0.00157307252166407	0.00016	T	0.593441	0.21910	T	0.04499418	0.07289	0.060470115	0.11521	0.04499418	0.07288	0.060470115	0.11521	-7.447	0.57236	T	.	.	0.082	0.08802	B	.;.	.;.	0.390632	0.07625	4.285	0.73719689406487532	0.10430	0.52518	0.29151	D	AEFGBI	0.177542	0.30479	N	-0.56368611205654	0.20057	1.054497	-0.584215349627881	0.19904	1.070019	0.00837838376043401	0.11664	0.706548	0.73137	0	0.577304	0.33150	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.72	1.13	0.19758	0.796000	0.26646	-1.176000	0.06110	-0.322000	0.05848	0.550000	0.27346	0.000000	0.08366	0.214000	0.22296	0.0:0.3876:0.3987:0.2137	4.587	0.11683	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018994	0.005102	0.018750	0.022581	0.000000	0.010000	0.022876	0.020833	0.05	1462.43	59	chr7	5370382	.	C	G	1462.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.614;DP=586;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=1.07;QD=13.29;ReadPosRankSum=-0.21;SOR=0.696	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr7	5428077	5428077	C	T	exonic	LOC100129484	.	nonsynonymous SNV	LOC100129484:NM_001354886:exon1:c.G172A:p.A58T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1395712428	1.318e-05	6.361e-06	2.295e-05	5.785e-06	1.891e-05	4.08e-06	2.08e-06	5.03e-06	2.4e-06	0	0	0	0	0	0	1.891e-05	7.038e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	32.43	3	chr7	5428077	.	C	T	32.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.967;DP=17;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	6	0	1	3
chr7	5501326	5501326	T	G	exonic	FBXL18	.	nonsynonymous SNV	FBXL18:NM_001321213:exon3:c.A943C:p.N315H,FBXL18:NM_001363441:exon3:c.A943C:p.N315H,FBXL18:NM_001363442:exon3:c.A943C:p.N315H,FBXL18:NM_001367780:exon3:c.A643C:p.N215H,FBXL18:NM_001367781:exon3:c.A643C:p.N215H,FBXL18:NM_024963:exon3:c.A943C:p.N315H	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	0.0002	0.00279553	0.0017	0	0.0006	0	0	0.0002	0.0034	0.0106	0.0014553	225	154602	rs200815360	0.0009	0.0009	0.0005	0.0013	0.0121	0.0009	0.0008	0.0115	0.0113	2.987e-05	0.0007	7.653e-05	0	1.872e-05	0.0017	0.0001	0.0011	0.0121	0.0005	0.0005	0.0003	0.0007	0.0102	0.0004	0.0004	0.0079	0.0071	2.407e-05	0	0.0005	0.0003	0	0	0	0.0002	0.0014	0.0102	0.017	0.51248	D	0.08	0.44501	T	0.874	0.48047	P	0.444	0.45865	B	0.000120	0.50451	D	0.235140	0.514718	0.31618	N	1.7	0.43825	L	5.24	0.01136	T	-1.37	0.35399	N	0.29	0.32812	-0.8529	0.51767	T	0.006	0.01944	T	10	0.009071171	0.00205	T	.	.	.	0.081	0.23632	.	.	0.692070404995	0.68942	0.41379522466244645	0.41295	1.12069334561	0.78290	0.315385699272	0.12721	T	.	.	.	-0.529498	0.00387	T	-0.523968	0.19894	T	0.0326881207303189	0.02420	T	0.871013	0.57621	D	.	.	.	.	.	.	.	.	-3.265	0.13290	T	.	.	0.076	0.05935	B	.;.	.;.	3.399039	0.47096	22.4	0.99610423552778338	0.74753	0.94801	0.62376	D	AEFDGBI	0.510680	0.53963	D	0.297993359271477	0.56047	3.768936	0.363998749042663	0.59357	4.112676	0.995279838724383	0.34040	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	2.351000	0.43727	2.859000	0.35190	0.647000	0.52776	1.000000	0.71638	0.996000	0.32793	0.995000	0.73285	0.1538:0.0:0.0:0.8462	9.771	0.39755	900	0.24599	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2406.43	66	chr7	5501326	.	T	G	2406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=691;ExcessHet=0;FS=5.914;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=-0.472;SOR=0.881	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	9	0	1	0
chr7	5882583	5882583	T	C	exonic	OCM	.	nonsynonymous SNV	OCM:NM_001097622:exon2:c.T152C:p.I51T	.	.	.	.	.	.	.	.	.	.	.	2374585	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.508	0.12848032969	0.0003	0.000199681	0.0002	0	8.637e-05	0	0	0.0003	0	0	0.0001811	28	154602	rs200277490	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0013	0.0011	0.0001	0.0003	7.652e-05	0	1.872e-05	0.0023	0.0003	0.0002	0	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	9.626e-05	0	0.0005	0.0003	0	0	0	0.0004	0.0010	0	0.001	0.78490	D	0.002	0.79402	D	0.721	0.42361	P	0.353	0.42910	B	0.000480	0.44119	D	0.196730	0.751056	0.33929	D	1.915	0.51223	L	-0.66	0.72348	T	-3.47	0.67824	D	0.808	0.80375	-0.1476	0.78975	T	0.308	0.67822	T	10	0.68495333	0.71505	D	0.12848	0.81043	D	0.508	0.78848	.	.	0.910644444467	0.90974	0.6690638503101775	0.66844	0.256843226255	0.28250	0.794236719608	0.81087	T	0.442129	0.78641	T	-0.163424	0.26234	T	-0.14858	0.59370	T	0.24157403409481	0.22492	T	0.932607	0.74787	D	0.5304594	0.68857	0.5489012	0.73920	0.5304594	0.68858	0.5489012	0.73920	-9.731	0.72285	D	.	.	0.708	0.73288	P	.;.	.;.	4.349201	0.66783	25.0	0.99839233472709987	0.91972	0.90091	0.51001	D	AEFGI	0.656288	0.62833	D	0.295218927541368	0.55905	3.754723	0.297851038495609	0.55415	3.704436	0.0309703444197917	0.13975	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	3.61	3.61	0.40494	6.353000	0.72977	7.829000	0.70041	0.452000	0.21348	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.0:0.0:0.0:1.0	11.446	0.49367	934	0.15400	EF-hand domain|EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2287.43	42	chr7	5882583	.	T	C	2287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=551;ExcessHet=0;FS=3.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.948;SOR=0.971	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	9	0	1	0
chr7	5967064	5967064	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.C53T:p.S18F,RSPH10B:NM_173565:exon3:c.C53T:p.S18F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0598829145343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.294475	0.03915	N	1.583530	0.960321	0.26151	N	1.995	0.54099	M	0.42	0.56937	T	-2.46	0.53736	N	0.237	0.26717	-0.8529	0.51767	T	0.293	0.66431	T	10	0.2821738	0.45796	T	0.059883	0.67815	D	0.250	0.55888	0.325	0.30711	0.537034694273	0.53353	0.3054105595686339	0.30454	.	.	0.510692000389	0.40320	T	0.021555	0.16767	T	-0.0749431	0.40534	T	-0.345427	0.39727	T	0.77496212720871	0.44740	D	0.740526	0.35940	T	0.10139629	0.23952	0.15439272	0.36238	0.10139629	0.23951	0.15439272	0.36237	-6.557	0.50724	T	.	.	0.096	0.18331	B	.;.;.	.;.;.	2.932783	0.38970	20.9	0.99664102506800933	0.78138	0.36593	0.25568	N	AEFGI	0.159015	0.28475	N	-0.089195827682142	0.37865	2.209233	-0.216554733827431	0.30941	1.746601	0.0213613938495533	0.13342	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	4.6	0.56512	2.271000	0.43023	7.129000	0.57618	-0.852000	0.02700	0.076000	0.22236	1.000000	0.68203	0.008000	0.08271	0.0783:0.0:0.9217:0.0	13.039	0.58292	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	78.14	79	chr7	5967064	.	G	A	78.14	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.664;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.3001;MLEAC=2;MLEAF=0.333;MQ=27;MQRankSum=0;QD=1.3;ReadPosRankSum=0.889;SOR=0.082	GT:AD:DP:GQ:PL	./.:36,0:36:0:0,0,616	2	0	1	7
chr7	6023468	6023468	G	A	exonic	AIMP2	.	nonsynonymous SNV	AIMP2:NM_001326607:exon3:c.G533A:p.G178E,AIMP2:NM_001326606:exon4:c.G620A:p.G207E,AIMP2:NM_001362787:exon4:c.G608A:p.G203E,AIMP2:NM_006303:exon4:c.G740A:p.G247E,AIMP2:NM_001326609:exon5:c.G506A:p.G169E,AIMP2:NM_001326610:exon5:c.G506A:p.G169E,AIMP2:NM_001326611:exon5:c.G506A:p.G169E,AIMP2:NM_001362785:exon5:c.G653A:p.G218E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0717958929603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.841e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.29029	T	0.036	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.11	0.87757	M	1.1	0.39050	T	-2.78	0.71882	D	0.822	0.84922	-0.5712	0.65967	T	0.298	0.66961	T	10	0.7007803	0.72430	D	0.071796	0.71363	D	0.340	0.66202	0.325	0.30711	0.458917189328	0.45515	0.7573787474875092	0.75685	0.266417766993	0.29183	0.580837726593	0.50204	T	0.266036	0.63795	T	0.146027	0.68895	D	-0.0280192	0.68500	D	0.975895202453333	0.71137	D	0.944206	0.79612	D	0.54590416	0.69727	0.5020818	0.71216	0.54590416	0.69728	0.5020818	0.71217	-7.332	0.60558	T	.	.	0.886	0.84325	P	.;.;.	.;.;.	5.065952	0.84460	28.3	0.99821175498288872	0.90414	0.97918	0.78116	D	AEFBCI	0.954013	0.97078	D	0.852883100456022	0.89274	9.904087	0.828642779842199	0.91708	11.02659	0.999999999999998	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	8.002000	0.88029	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.656	0.95838	774	0.48577	Glutathione S-transferase, C-terminal;Glutathione S-transferase, C-terminal;Glutathione S-transferase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2576.43	38	chr7	6023468	.	G	A	2576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.837;DP=561;ExcessHet=0;FS=1.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.066;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	9	0	1	0
chr7	6154745	6154745	A	G	exonic	USP42	.	nonsynonymous SNV	USP42:NM_001365764:exon15:c.A3191G:p.D1064G,USP42:NM_032172:exon15:c.A3191G:p.D1064G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.258902535628	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035961563	1.407e-06	1.368e-06	0	2.844e-06	1.829e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.829e-06	0	0	1.316e-05	1.313e-05	2.574e-05	0	2.945e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.945e-05	0	0	0.003	0.68238	D	0.043	0.54934	D	0.021	0.18474	B	0.021	0.19346	B	0.004853	0.33331	N	0.300277	0.97817	0.25266	N	1.545	0.39105	L	-0.05	0.63403	T	-2.19	0.50830	N	0.447	0.48504	-0.9190	0.45689	T	0.151	0.47891	T	10	0.1742878	0.32300	T	0.258903	0.89426	D	0.062	0.17934	0.485	0.56780	0.184605227958	0.18053	0.4917367183123608	0.49094	0.207682982897	0.23235	0.602073550224	0.53197	T	0.041562	0.25900	T	-0.0789342	0.39887	T	-0.35116	0.39072	T	0.826886475086212	0.48290	D	0.760924	0.38629	T	.	.	.	.	.	.	.	.	-5.83	0.44835	T	.	.	0.136	0.68917	B	.;.	.;.	3.288939	0.45099	22.1	0.99741618756531181	0.83555	0.84346	0.43428	D	AEFDGBCI	0.123050	0.23847	N	-0.317804946187092	0.28471	1.570689	-0.200204471491351	0.31530	1.785225	0.946719007251158	0.27719	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.77	3.38	0.37806	1.050000	0.30014	.	.	0.754000	0.88378	0.005000	0.17040	1.000000	0.68203	0.805000	0.37950	0.8393:0.0:0.1607:0.0	8.305	0.31199	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	920.43	35	chr7	6154745	.	A	G	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.07;DP=420;ExcessHet=0;FS=1.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.198;SOR=0.941	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	9	0	1	0
chr7	6330718	6330718	G	A	exonic	FAM220A	.	nonsynonymous SNV	FAM220A:NM_001037163:exon2:c.C437T:p.P146L	.	411	1097	14	0	0	14	0.00634058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00344751853347	0.0016	0.00139776	0.0010	0.0048	0.0005	0	0	0.0007	0.0022	0.0009	0.0009961	154	154602	rs75910050	0.0008	0.0008	0.0008	0.0008	0.0220	0.0008	0.0008	0.0189	0.0177	0.0066	0.0011	0.0005	2.519e-05	0	0.0220	0.0005	0.0022	0.0008	0.0021	0.0021	0.0021	0.0021	0.0053	0.0019	0.0018	0.0047	0.0045	0.0053	0	0.0012	0.0006	0	0	0.0034	0.0010	0.0028	0.0008	0.408	0.10212	T	0.468	0.12316	T	0.007	0.14184	B	0.005	0.11217	B	0.919104	0.08499	N	0.950055	1	0.08975	N	0.55	0.14455	N	3.23	0.06931	T	-2.74	0.58248	D	0.106	0.09066	-0.9274	0.44516	T	0.010	0.03765	T	10	0.0046599805	0.00098	T	0.003448	0.07786	T	0.049	0.13647	.	.	0.104622674875	0.10061	0.04310566517497903	0.04255	0.0417253464101	0.04484	0.242958009243	0.03063	T	0.001488	0.00934	T	-0.668667	0.00056	T	-0.732042	0.04236	T	0.00722983047872792	0.00083	T	0.548745	0.18852	T	0.027243165	0.01890	0.047713682	0.06934	0.027243165	0.01890	0.047713682	0.06933	-3.466	0.15959	T	.	.	0.125	0.26482	B	.;.	.;.	0.233142	0.06140	2.588	0.98839569530909077	0.47102	0.02741	0.07418	N	AEFBI	0.051587	0.09128	N	-1.23948508893055	0.04439	0.2003722	-1.23595987054278	0.05342	0.2543025	2.40447898683566E-4	0.06095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.22	0.04808	-1.862000	0.01745	.	.	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.516000	0.29383	0.0958:0.4499:0.1961:0.2582	4.092	0.09448	873	0.30802	SIPAR domain;SIPAR domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.000000	0.009511	0.043860	0.000000	0.000000	0.003049	0.003788	0.05	1760.43	34	chr7	6330718	.	G	A	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=1190;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.91;SOR=0.57	GT:AD:DP:GQ:PL	0/0:126,0:126:99:0,120,1800	9	0	1	0
chr7	6409889	6409889	G	A	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon13:c.C1580T:p.A527V,DAGLB:NM_139179:exon15:c.C1967T:p.A656V	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0125400066305	.	.	1.658e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757205077	9.578e-06	9.577e-06	1.089e-05	8.251e-06	0.0002	5.56e-06	4.35e-06	4.578e-05	3.272e-05	0	0	0	2.519e-05	0	0.0002	8.993e-07	4.967e-05	9.275e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.293e-05	3.03e-05	0	0	0	0	0	0	0	0	0	0.0004	0.217	0.32610	T	0.089	0.40586	T	0.87	0.47827	P	0.084	0.29270	B	0.500530	0.11955	N	0.767743	1	0.08975	N	2.4	0.69460	M	1.54	0.30133	T	-0.31	0.12472	N	0.084	0.11197	-1.0491	0.14649	T	0.065	0.26983	T	10	0.08355847	0.13912	T	0.01254	0.31203	T	0.055	0.15663	0.33	0.31519	0.299770980665	0.29595	0.30033108596477376	0.29946	0.0649935155264	0.07263	0.243623971939	0.03126	T	0.039032	0.25050	T	-0.410152	0.01983	T	-0.645403	0.09280	T	0.32060769200325	0.25847	T	0.730627	0.34608	T	0.0245967	0.01307	0.032053273	0.01884	0.0245967	0.01307	0.032053273	0.01884	-4.427	0.32083	T	.	.	0.085	0.10159	B	.;.;.	.;.;.	1.229842	0.16246	12.41	0.98823469935701613	0.46819	0.62370	0.31761	D	AEFDGBCI	0.166274	0.29284	N	-0.631725805312693	0.17996	0.9308076	-0.735327075475505	0.16084	0.8491457	0.999989150825171	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.79	0.684	0.17167	1.471000	0.34973	.	.	-0.135000	0.12811	0.005000	0.17040	0.045000	0.21693	0.015000	0.10482	0.1211:0.3195:0.4495:0.1098	5.079	0.13982	830	0.39242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1195.43	35	chr7	6409889	.	G	A	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.63;DP=455;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.702;SOR=0.803	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1386	9	0	1	0
chr7	6436530	6436530	G	C	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon3:c.C251G:p.T84R,DAGLB:NM_139179:exon3:c.C251G:p.T84R	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.0236920601974	0.0032	0.00179712	0.0030	0.0008	0.0007	0	0.0014	0.0049	0	0.0005	0.0030077	465	154602	rs145491977	0.0034	0.0034	0.0034	0.0033	0.0163	0.0033	0.0033	0.0136	0.0126	0.0005	0.0006	0.0022	0	0.0013	0.0163	0.0040	0.0031	0.0006	0.0026	0.0026	0.0027	0.0025	0.0041	0.0024	0.0023	0.0037	0.0035	0.0009	0.0493	0.0007	0.0032	0	0.0008	0.0034	0.0041	0.0009	0.0006	0.022	0.72154	D	0.01	0.66756	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	0.79	0.52416	T	-3.32	0.71157	D	0.956	0.96531	-0.6597	0.62289	T	0.243	0.61142	T	10	0.011266977	0.00247	T	0.023692	0.46661	T	0.500	0.78350	.	.	0.867394527577	0.86610	0.9660552676231164	0.96592	0.34962926553	0.36813	0.492384314537	0.37769	T	0.420072	0.77190	T	-0.00947136	0.50340	T	0.215953	0.83971	D	0.0274884541327266	0.01615	T	0.927307	0.78138	D	0.6395499	0.74807	0.5498058	0.73971	0.6395499	0.74808	0.5498058	0.73972	-10.57	0.77608	D	.	.	0.572	0.67715	P	.;.;.;.	.;.;.;.	4.838051	0.78954	27.0	0.99380651754095695	0.61847	0.97281	0.73769	D	ALL	0.868857	0.78915	D	0.887566669408333	0.91138	10.73374	0.88397843770689	0.94834	13.08292	0.999999999999999	0.74766	0.736574	0.97449	0	0.623108	0.53289	0	0.732669	0.93749	0	0.662433	0.64102	0	.	.	5.87	5.87	0.94266	9.004000	0.93118	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	20.583	0.99411	749	0.51929	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012097	0.005051	0.006793	0.032164	0.000000	0.051724	0.006135	0.000000	0.05	1193.43	35	chr7	6436530	.	G	C	1193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=408;ExcessHet=0;FS=2.994;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=1.03;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1003	9	0	1	0
chr7	6446016	6446016	G	A	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_001142936:exon2:c.C184T:p.L62F,DAGLB:NM_139179:exon2:c.C184T:p.L62F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0353963048467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.51853	D	0.017	0.63109	D	0.998	0.73220	D	0.878	0.62312	P	0.000007	0.62929	D	0.000000	0.999914	0.81001	D	2.51	0.73131	M	0.76	0.50976	T	-1.55	0.54702	N	0.773	0.78167	-0.5858	0.65388	T	0.283	0.65527	T	10	0.4560276	0.58994	T	0.035396	0.56317	D	0.249	0.55752	0.403	0.43408	0.756766505432	0.75456	0.7068042102899759	0.70622	0.342738047888	0.36201	0.548847794533	0.45695	T	0.292358	0.66509	T	0.0183799	0.54163	T	-0.211375	0.53562	T	0.958694100379944	0.65337	D	0.739226	0.61165	T	0.14578447	0.33402	0.17460506	0.39869	0.14578447	0.33401	0.17460506	0.39868	-6.157	0.51388	T	.	.	0.319	0.56780	B	.;.;.;.	.;.;.;.	4.302090	0.65697	24.9	0.99868050774029971	0.94637	0.95017	0.63136	D	AEFBI	0.475681	0.51941	N	0.378248897083519	0.60244	4.211341	0.272651935433179	0.53947	3.561484	0.999999831701243	0.74766	0.732398	0.92422	0	0.627608	0.54475	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	5.799000	0.68759	.	.	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.473000	0.28408	0.0:0.0:1.0:0.0	16.684	0.85157	749	0.51929	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1489.43	62	chr7	6446016	.	G	A	1489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.06;DP=537;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.654;SOR=0.799	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr7	6551069	6551069	C	A	exonic	GRID2IP	.	nonsynonymous SNV	GRID2IP:NM_001145118:exon1:c.G368T:p.R123L	.	.	.	.	.	.	.	.	.	.	.	4138943	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.098272006083	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291160096	7.94e-05	7.388e-05	7.84e-05	8.046e-05	8.907e-05	6.595e-05	6.112e-05	7.381e-05	6.805e-05	4.3e-05	0	0	0	0	0	8.907e-05	0.0001	0	6.627e-06	1.318e-05	1.295e-05	0	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	0.016	0.51853	D	0.155	0.31936	T	0.075	0.24198	B	0.038	0.23361	B	0.886317	0.07267	U	1.118960	1	0.08975	N	1.445	0.36358	L	1.12	0.38718	T	-2.38	0.52451	N	0.21	0.23380	-1.0284	0.20973	T	0.108	0.39075	T	10	0.1386728	0.26371	T	0.098272	0.76913	D	0.083	0.24192	0.389	0.41115	0.239305524855	0.23518	0.37236662360647804	0.37150	0.286913229122	0.31092	0.821439564228	0.85248	D	0.080613	0.36406	T	-0.157088	0.27208	T	-0.463422	0.26228	T	0.306086282065471	0.25254	T	0.555844	0.19272	T	0.20965779	0.43239	0.09127664	0.21450	0.20965779	0.43239	0.09127664	0.21450	-2.724	0.07506	T	.	.	0.139	0.30344	B	.	.	1.675292	0.21352	15.16	0.96675865911799574	0.30682	0.16758	0.19535	N	AEFDBI	0.074817	0.15008	N	-0.59422615701052	0.19119	0.998142	-0.595419239302423	0.19611	1.052999	0.882237880771509	0.25648	0.714655	0.82082	0	0.547309	0.14657	0	0.659618	0.59808	1	0.613276	0.41899	0	.	.	4.41	4.41	0.52588	1.669000	0.37108	.	.	0.466000	0.21733	0.074000	0.22182	1.000000	0.68203	0.003000	0.05239	0.0:1.0:0.0:0.0	13.225	0.59335	891	0.26808	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	58.68	2	chr7	6551069	.	C	A	58.68	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0;DP=45;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,133:.	8	0	1	1
chr7	6583386	6583386	T	C	exonic	ZDHHC4	.	nonsynonymous SNV	ZDHHC4:NM_001371293:exon5:c.T451C:p.C151R,ZDHHC4:NM_001371298:exon5:c.T391C:p.C131R,ZDHHC4:NM_001134387:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134389:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371292:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371296:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371297:exon6:c.T451C:p.C151R,ZDHHC4:NM_001371299:exon6:c.T451C:p.C151R,ZDHHC4:NM_018106:exon6:c.T451C:p.C151R,ZDHHC4:NM_001134388:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371294:exon7:c.T451C:p.C151R,ZDHHC4:NM_001371295:exon7:c.T451C:p.C151R	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	.	0.0078	0.00279553	0.0051	0.0012	0.0036	0	0.0029	0.0076	0.0011	0.0026	0.0056274	870	154602	rs144937586	0.0080	0.0081	0.0083	0.0078	0.0094	0.0079	0.0079	0.0093	0.0092	0.0011	0.0025	0.0109	2.52e-05	0.0029	0.0057	0.0094	0.0071	0.0028	0.0056	0.0056	0.0058	0.0054	0.0089	0.0053	0.0052	0.0083	0.0081	0.0017	0.0285	0.0043	0.0115	0	0.0023	0	0.0089	0.0057	0.0021	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	5.05	0.99895	H	0.39	0.86010	T	-11.0	0.99399	D	0.978	0.99611	0.814	0.94584	D	0.813	0.93690	D	10	0.027118385	0.00863	T	.	.	.	0.614	0.84932	.	.	0.945805394361	0.94524	0.9826998763058142	0.98261	0.403258950643	0.41270	0.667209327221	0.62439	T	0.379432	0.74219	T	-0.129121	0.31639	T	0.0521385	0.73725	D	0.146796232529743	0.16845	T	0.690631	0.30012	T	0.9589247	0.97171	0.929022	0.97027	0.9589247	0.97172	0.929022	0.97028	-9.559	0.71226	D	.	.	0.848	0.82688	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.626628	0.73518	26.0	0.99693707556912481	0.80112	0.99358	0.94979	D	AEFBI	0.952257	0.96756	D	0.799268391164261	0.86061	8.765888	0.637258878546838	0.77663	6.723262	0.999998400705788	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	7.303000	0.78192	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.708000	0.34389	0.0:0.0:0.0:1.0	13.111	0.58686	858	0.34001	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;.;Palmitoyltransferase, DHHC domain	.	.	.	.	rs144937586	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.000000	0.05	1204.43	35	chr7	6583386	.	T	C	1204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.392;DP=458;ExcessHet=0;FS=1.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.247;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	9	0	1	0
chr7	7969360	7969360	-	CCT	exonic	GLCCI1	.	nonframeshift insertion	GLCCI1:NM_138426:exon1:c.10_11insCCT:p.S13_Q14insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.00259585	0.0009	0.0025	0	0	0.0005	0.0002	0	0.0036	0.0005433	84	154602	rs528042199	0.0004	0.0008	0.0004	0.0004	0.0050	0.0004	0.0004	0.0043	0.0041	0.0050	8.876e-05	0	9.953e-05	9.249e-05	0	0.0002	0.0005	0.0025	0.0014	0.0014	0.0016	0.0013	0.0044	0.0013	0.0012	0.0038	0.0036	0.0043	0	0.0002	0	0	9.823e-05	0	0.0001	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	33.39	30	chr7	7969360	.	G	GCCT	33.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=251;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-0.765;SOR=0.569	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,385	9	0	1	0
chr7	8086287	8086287	C	T	exonic	GLCCI1	.	nonsynonymous SNV	GLCCI1:NM_138426:exon8:c.C1393T:p.L465F	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.00857691705173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.055	0.46862	T	0.999	0.77913	D	0.974	0.73157	D	0.000013	0.62929	D	0.116972	0.999999	0.58761	D	2.47	0.71715	M	.	.	.	-2.8	0.59226	D	0.618	0.63374	-0.2550	0.76224	T	0.412	0.76013	T	9	0.5880612	0.66223	D	0.008577	0.22680	T	0.153	0.40148	0.318	0.29581	0.393927044628	0.39002	0.4691734842697467	0.46836	0.913498714158	0.71147	0.785588741302	0.79772	T	0.357751	0.72441	T	0.0289673	0.55587	T	-0.196167	0.55010	T	0.965856313705444	0.67398	D	0.924508	0.72366	D	0.44785672	0.63906	0.35393065	0.60946	0.44785672	0.63906	0.35393065	0.60945	-4.741	0.33896	T	.	.	0.806	0.77574	P	.	.	4.655642	0.74259	26.1	0.99843411389621062	0.92316	0.93435	0.58209	D	AEFGBCI	0.643891	0.62034	D	0.690869219481497	0.79032	6.993276	0.663969051056666	0.79653	7.128486	0.999961987538704	0.48965	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	5.14	5.14	0.70008	3.917000	0.56136	5.898000	0.50850	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	19.177	0.93591	731	0.54177	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2890.43	37	chr7	8086287	.	C	T	2890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.523;DP=532;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.992;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	9	0	1	0
chr7	12337209	12337209	C	T	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001346972:exon23:c.G4085A:p.R1362H,VWDE:NM_001346973:exon23:c.G3620A:p.R1207H,VWDE:NM_001135924:exon25:c.G4430A:p.R1477H	.	426	1084	12	0	0	12	0.00550459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00482301734087	.	0.000199681	0.0006	0	0	0	0	0.0013	0	0.0001	0.0001035	16	154602	rs200831817	0.0004	0.0004	0.0004	0.0004	0.0163	0.0004	0.0003	0.0136	0.0126	0.0002	0.0005	0.0038	0	0	0.0163	0.0002	0.0009	0.0003	0.0004	0.0004	0.0003	0.0005	0.0008	0.0003	0.0003	0.0003	0.0002	0.0001	0	0.0006	0.0032	0	0	0.0068	0.0004	0.0005	0.0008	0.14	0.25664	T	0.151	0.32355	T	0.008	0.14655	B	0.001	0.04355	B	0.001669	0.38326	N	0.290551	0.999979	0.18612	N	1.12	0.28775	L	4.01	0.03208	T	-1.08	0.28084	N	0.063	0.05670	-0.9708	0.37030	T	0.010	0.03492	T	10	0.0057286024	0.00128	T	0.004823	0.12066	T	0.027	0.05988	0.392	0.41606	0.0138822411134	0.00435	0.3675698280270462	0.36670	.	.	0.205601364374	0.00638	T	0.024127	0.18290	T	-0.537208	0.00348	T	-0.668889	0.07679	T	0.0543942820070091	0.06255	T	0.780822	0.55818	T	0.034094237	0.03758	0.037625372	0.03456	0.034094237	0.03758	0.037625372	0.03456	-5.356	0.40494	T	.	.	0.111	0.21691	B	.;.	.;.	2.067036	0.26282	17.06	0.99735146641489336	0.83047	0.11654	0.16775	N	AEFGBI	0.296706	0.40648	N	-0.672419484162656	0.16810	0.8597315	-0.65002549888652	0.18216	0.9721257	0.995111493317387	0.33959	0.50712	0.20391	0	0.573888	0.26702	0	0.658105	0.52812	0	0.620846	0.47308	0	.	.	4.86	-2.44	0.06126	0.123000	0.15536	-0.865000	0.07126	0.599000	0.40250	0.116000	0.23103	0.000000	0.08366	0.982000	0.59238	0.0893:0.1875:0.6455:0.0776	9.535	0.38381	853	0.34956	EGF-like domain|EGF-like domain;EGF-like domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1716.43	40	chr7	12337209	.	C	T	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.31;DP=501;ExcessHet=0;FS=4.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-2.331;SOR=1.066	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.15	4567.45	134	chr7	12380643	.	G	C	4567.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.117;DP=621;ExcessHet=0.7463;FS=0.832;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.312;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	7	0	3	0
chr7	14176894	14176894	C	T	exonic	DGKB	.	nonsynonymous SNV	DGKB:NM_001350720:exon23:c.G2195A:p.S732N,DGKB:NM_001350721:exon23:c.G2195A:p.S732N,DGKB:NM_001350711:exon24:c.G2228A:p.S743N,DGKB:NM_001350712:exon24:c.G2228A:p.S743N,DGKB:NM_001350714:exon24:c.G2228A:p.S743N,DGKB:NM_001350715:exon24:c.G2231A:p.S744N,DGKB:NM_001350716:exon24:c.G2231A:p.S744N,DGKB:NM_001350717:exon24:c.G2216A:p.S739N,DGKB:NM_001350718:exon24:c.G2216A:p.S739N,DGKB:NM_001350719:exon24:c.G2216A:p.S739N,DGKB:NM_001350724:exon24:c.G2102A:p.S701N,DGKB:NM_145695:exon24:c.G2252A:p.S751N,DGKB:NM_001350705:exon25:c.G2252A:p.S751N,DGKB:NM_001350706:exon25:c.G2252A:p.S751N,DGKB:NM_001350707:exon25:c.G2249A:p.S750N,DGKB:NM_001350708:exon25:c.G2249A:p.S750N,DGKB:NM_001350709:exon25:c.G2249A:p.S750N,DGKB:NM_001350722:exon25:c.G2126A:p.S709N,DGKB:NM_001350723:exon25:c.G2126A:p.S709N	.	427	1091	4	0	0	4	0.00182983	.	.	.	2228177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0107872827238	8.3e-05	.	0.0003	0.0002	0.0004	0	0	0.0004	0	0.0002	0.0002523	39	154602	rs200168973	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	0.0001	0.0007	0	0	0	0.0026	0.0002	0.0007	5.797e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0002	0.0002	0.0007	0.0006	0.0002	0	0.0011	0	0	0	0	0.0002	0.0005	0	0.784	0.03869	T	0.441	0.13953	T	0.064	0.23455	B	0.025	0.20508	B	0.000000	0.84330	D	0.000000	0.69885	0.33401	D	0.595	0.15482	N	1.55	0.29866	T	0.13	0.05503	N	0.313	0.35408	-1.0576	0.12362	T	0.052	0.22114	T	10	0.048818737	0.04384	T	0.010787	0.27726	T	0.093	0.26882	.	.	0.143184338766	0.13958	0.4300506914532801	0.42922	0.296725836107	0.32059	0.774476289749	0.78095	T	0.037235	0.24401	T	-0.537907	0.00345	T	-0.64285	0.09463	T	0.0175834775210208	0.00492	T	0.760924	0.42665	T	0.23536046	0.46371	0.2400363	0.49368	0.23536046	0.46371	0.2400363	0.49367	-4.428	0.30001	T	.	.	0.110	0.31431	B	.;.;.;.;.	.;.;.;.;.	3.235541	0.44146	21.9	0.89984954986976196	0.19278	0.82233	0.41492	D	AEFI	0.204186	0.33064	N	-0.311982192409389	0.28691	1.584705	-0.123166351894462	0.34458	1.98233	1.91563810175948E-4	0.05898	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	1.040000	0.29888	2.730000	0.34381	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	17.129	0.86599	958	0.09170	Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory domain;Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory domain;Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory domain;Diacylglycerol kinase, accessory domain|Diacylglycerol kinase, accessory domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1946.43	34	chr7	14176894	.	C	T	1946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=480;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.089;SOR=0.615	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	9	0	1	0
chr7	16600829	16600829	G	A	exonic	ANKMY2	.	nonsynonymous SNV	ANKMY2:NM_020319:exon10:c.C1258T:p.L420F	.	426	1044	50	2	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	.	0.0067	0.00439297	0.0071	0.0013	0.0058	0	0.0008	0.0104	0.0132	0.0040	0.0068563	1060	154602	rs35504966	0.0067	0.0067	0.0065	0.0069	0.0562	0.0066	0.0065	0.0511	0.0492	0.0029	0.0055	0.0747	0	0.0011	0.0562	0.0054	0.0121	0.0046	0.0064	0.0064	0.0068	0.0060	0.0087	0.0061	0.0060	0.0075	0.0070	0.0015	0	0.0087	0.0786	0.0002	0.0009	0.0476	0.0064	0.0133	0.0050	0.088	0.32296	T	0.141	0.33442	T	0.119	0.26641	B	0.07	0.27859	B	0.298204	0.03938	N	1.466450	1	0.08975	N	0.345	0.11182	N	-0.75	0.73311	T	-0.63	0.18459	N	0.045	0.01740	-0.8165	0.54152	T	0.214	0.57547	T	10	0.0029207766	0.00047	T	.	.	.	0.219	0.51417	.	.	0.626644753645	0.62360	0.12344504020081694	0.12270	0.0543416032406	0.06012	0.250016897917	0.03769	T	0.001235	0.00725	T	-0.539205	0.00339	T	-0.543302	0.17974	T	0.00773720539080692	0.00090	T	0.448855	0.12628	T	0.044852592	0.07242	0.06048345	0.11525	0.044852592	0.07242	0.06048345	0.11524	-5.901	0.45444	T	.	.	0.068	0.02829	B	.	.	1.195981	0.15877	12.16	0.97636649181179258	0.35051	0.05254	0.11090	N	AEFBI	0.061389	0.11733	N	-0.782526810651424	0.13765	0.6805295	-0.788620490741912	0.14774	0.7737219	0.00813037390479041	0.11615	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.97	2.83	0.32150	0.199000	0.17037	1.786000	0.28758	0.676000	0.76740	0.000000	0.06391	0.009000	0.19889	0.556000	0.30317	0.0:0.4482:0.5518:0.0	12.596	0.55826	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.037261	0.020202	0.042120	0.090643	0.000000	0.034483	0.012195	0.011364	0.05	1090.43	44	chr7	16600829	.	G	A	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.266;DP=454;ExcessHet=0;FS=3.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.107;SOR=1.085	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1102,0,1267	9	0	1	0
chr7	20158698	20158698	C	A	exonic	MACC1	.	nonsynonymous SNV	MACC1:NM_182762:exon5:c.G1663T:p.V555L	.	437	1076	9	0	0	9	0.00416474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0063	0.00698882	0.0023	0.0198	0.0019	0	0.0005	0.0007	0.0011	0.0002	0.0022703	351	154602	rs34476934	0.0012	0.0012	0.0013	0.0011	0.0195	0.0011	0.0011	0.0183	0.0178	0.0195	0.0019	3.828e-05	5.04e-05	0.0002	0.0158	0.0007	0.0025	0.0004	0.0060	0.0060	0.0060	0.0060	0.0195	0.0057	0.0056	0.0184	0.0180	0.0195	0	0.0035	0	0.0002	0.0004	0.0204	0.0004	0.0047	0.0002	0.236	0.17940	T	0.28	0.21678	T	0.797	0.44809	P	0.453	0.46205	P	0.000000	0.84330	D	0.053166	0.999998	0.58761	D	1.81	0.47622	L	2.93	0.09822	T	-1.51	0.36787	N	0.467	0.50868	-1.1228	0.02162	T	0.021	0.08639	T	10	0.007229477	0.00164	T	.	.	.	0.119	0.33137	0.358	0.36060	0.330069100803	0.32608	0.4445489742465957	0.44372	0.0401084390643	0.04292	0.365905284882	0.20243	T	0.016019	0.13326	T	-0.575668	0.00205	T	-0.582098	0.14359	T	0.0214443864775538	0.00847	T	0.693931	0.30359	T	0.15606171	0.35237	0.16399838	0.38014	0.15606171	0.35237	0.16399838	0.38013	-6.495	0.50248	T	.	.	0.244	0.49893	B	.;.;.	.;.;.	1.739059	0.22131	15.49	0.96619238798312734	0.30473	0.74214	0.36302	D	AEFDGBHCI	0.514073	0.54160	D	0.0042814080960758	0.42049	2.526362	-0.0410270374019628	0.37882	2.224042	0.99999997014434	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.658983	0.55881	0	0.665031	0.64506	0	.	.	5.81	4.94	0.64645	1.109000	0.30749	-0.074000	0.12261	0.599000	0.40250	0.394000	0.26121	0.000000	0.08366	0.412000	0.27050	0.0:0.8607:0.0:0.1393	11.944	0.52203	845	0.36510	SH3 domain;SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018127	0.020202	0.019022	0.038012	0.050000	0.025862	0.003049	0.000000	0.05	936.43	33	chr7	20158698	.	C	A	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.069;DP=447;ExcessHet=0;FS=5.769;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=0.255;SOR=1.223	GT:AD:DP:GQ:PL	0/1:96,42:138:99:948,0,2576	9	0	1	0
chr7	21570202	21570202	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon7:c.G1328A:p.S443N	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	2880854	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.060	0.0090133325924	.	.	0.0002	0	0	0	0	0	0	0.0014	0.0001488	23	154602	rs751343231	5.68e-05	5.678e-05	3.677e-05	7.705e-05	0.0009	4.678e-05	4.303e-05	0.0007	0.0007	0	0	0	0	0	0	8.995e-07	8.284e-05	0.0009	1.314e-05	1.314e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.412	0.10083	T	.	.	.	0.001	0.07471	B	0.003	0.08700	B	0.174421	0.17280	N	0.629924	0.999998	0.08975	N	1.7	0.43825	L	0.48	0.55945	T	-1.19	0.30346	N	0.133	0.12913	-1.0593	0.11931	T	0.077	0.30706	T	10	0.0323686	0.01387	T	0.009013	0.23726	T	0.060	0.17295	0.521	0.62368	0.190952846119	0.18690	0.06246320896005196	0.06186	.	.	0.271317303181	0.06314	T	0.048874	0.28145	T	-0.580719	0.00191	T	-0.65738	0.08444	T	0.0201378388494005	0.00714	T	0.440756	0.12177	T	0.04848343	0.08456	0.09435486	0.22331	0.042965915	0.06612	0.11152257	0.26900	-3.373	0.14695	T	.	.	0.075	0.05491	B	.;.;.	.;.;.	0.781895	0.11523	8.119	0.58214576424759013	0.05943	0.05104	0.10906	N	AEFBI	0.036288	0.04810	N	-1.02633019230634	0.08060	0.3766066	-0.988023027804073	0.10054	0.5039733	2.53197724953703E-4	0.06190	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.79	2.86	0.32427	0.039000	0.13770	0.143000	0.15197	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.480000	0.28565	0.2661:0.1466:0.4361:0.1512	1.234	0.01830	753	0.51500	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1486.43	37	chr7	21570202	.	G	A	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.686;DP=506;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.803;SOR=0.821	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	9	0	1	0
chr7	21601166	21601166	T	C	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon17:c.T3412C:p.F1138L	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	1117739	Primary_ciliary_dyskinesia_7|Primary_ciliary_dyskinesia	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.00961845868204	0.0003	.	0.0001	0	8.741e-05	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs200099996	8.361e-05	8.345e-05	7.829e-05	8.899e-05	0.0037	7.14e-05	6.685e-05	0.0025	0.0021	3.083e-05	0.0001	0.0004	0	0	0.0037	5.863e-05	0.0001	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.713e-05	0.0002	0.0002	0	0	0.0001	0.0003	0	0	0.0034	0.0003	0	0	0.196	0.20683	T	.	.	.	0.915	0.50599	P	0.395	0.44317	B	0.000415	0.44736	D	0.193797	0.870611	0.35556	D	2.095	0.58118	M	2.0	0.21473	T	-2.71	0.57762	D	0.492	0.54059	-1.0585	0.12134	T	0.041	0.17573	T	9	0.13615233	0.25905	T	0.009618	0.25153	T	0.161	0.41658	0.59	0.71874	0.246215685461	0.24236	0.18125520941019954	0.18044	.	.	0.585629045963	0.50879	T	0.135544	0.46742	T	-0.291554	0.09481	T	-0.408265	0.32424	T	0.137430080042322	0.16052	T	0.768923	0.39853	T	0.21268004	0.43627	0.32094908	0.58047	0.2333323	0.46135	0.4104647	0.65306	-5.167	0.38604	T	0.4123996912488556	0.50249	0.781	0.76425	P	.;.;.	.;.;.	2.585093	0.33527	19.37	0.99188821766702806	0.54906	0.82196	0.41461	D	AEFBI	0.215124	0.34051	N	0.218163643360939	0.52079	3.384519	0.296132779568994	0.55313	3.694494	0.057908915812799	0.15108	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	1.432000	0.34545	5.077000	0.47232	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.377	0.74327	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.001359	0.002924	0.000000	0.017241	0.003049	0.000000	0.05	1592.43	46	chr7	21601166	.	T	C	1592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=518;ExcessHet=0;FS=5.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.97;SOR=1.211	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr7	21698104	21698104	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon36:c.A6071G:p.E2024G	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.0332999689347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.058302	0.999999	0.58761	D	.	.	.	0.77	0.49642	T	-5.75	0.87760	D	0.646	0.72031	-0.5355	0.67334	T	0.296	0.66716	T	9	0.7471018	0.75367	D	0.033	0.54882	D	0.499	0.78288	0.509	0.60540	0.544389754888	0.54093	0.5083836818419519	0.50760	.	.	0.613233447075	0.54774	T	0.213451	0.57477	T	0.0619274	0.59855	T	-0.148822	0.59347	T	0.998075246810913	0.93161	D	0.949205	0.80472	D	0.4467604	0.63836	0.63361263	0.78618	0.4467604	0.63836	0.63361263	0.78618	-7.746	0.59327	D	0.6287400330376665	0.69789	0.109	0.20857	B	.;.;.	.;.;.	4.035569	0.59704	24.1	0.99881654220320248	0.95733	0.99016	0.90001	D	AEFI	0.925872	0.90609	D	0.707956796142107	0.80153	7.231841	0.706113036585603	0.82844	7.868694	0.999864230428166	0.44398	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.33	5.33	0.75683	9.325000	0.96006	11.130000	0.86775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	15.299	0.73637	780	0.47616	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	822.43	34	chr7	21698104	.	A	G	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.201;DP=382;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-1.26;SOR=0.534	GT:AD:DP:GQ:PL	0/1:37,37:74:99:834,0,836	9	0	1	0
chr7	21742035	21742035	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon49:c.A8023G:p.I2675V	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	252729	Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_7|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00111298364262	0.0029	0.00399361	0.0020	0.0086	0.0046	0.0029	0.0002	0.0010	0.0044	0.0005	0.0019857	307	154602	rs72657364	0.0015	0.0015	0.0015	0.0014	0.0102	0.0014	0.0014	0.0094	0.0091	0.0076	0.0037	0	0.0102	7.491e-05	0.0038	0.0010	0.0020	0.0005	0.0032	0.0032	0.0031	0.0032	0.0082	0.0029	0.0028	0.0074	0.0072	0.0082	0	0.0028	0	0.0046	9.425e-05	0.0034	0.0009	0.0043	0.0010	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.000879	0.41335	N	0.238687	1	0.08975	N	.	.	.	1.24	0.36691	T	0.26	0.04380	N	0.1	0.09207	-0.9878	0.33151	T	0.021	0.08778	T	9	0.0054730177	0.00121	T	0.001113	0.01336	T	0.014	0.01968	.	.	0.12205267543	0.11705	0.21876337597791215	0.21792	.	.	0.239304602146	0.02728	T	0.035558	0.23766	T	-0.658636	0.00064	T	-0.712039	0.05191	T	1.32037075672997e-05	0.00000	T	0.338366	0.07261	T	0.021232137	0.00715	0.044969555	0.05946	0.022033995	0.00840	0.043356016	0.05376	-1.886	0.02778	T	0.09856666813032602	0.07062	0.067	0.02488	B	.;.;.	.;.;.	-0.478682	0.01936	0.164	0.16861444570847522	0.00469	0.01139	0.04132	N	AEFBI	0.024178	0.01456	N	-1.19757935269847	0.05036	0.2286885	-1.1722595944517	0.06376	0.306745	1.73252193627429E-5	0.02871	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.47	-1.27	0.08863	0.670000	0.24838	-0.785000	0.07438	-2.811000	0.00182	0.308000	0.25396	0.000000	0.08366	0.007000	0.07825	0.2159:0.2846:0.4995:0.0	7.990	0.29398	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2908.43	206	chr7	21742035	.	A	G	2908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.109;DP=523;ExcessHet=0;FS=3.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=-1.671;SOR=0.913	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr7	21894771	21894771	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon78:c.G12899A:p.R4300H	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	229589	Primary_ciliary_dyskinesia_7|Primary_ciliary_dyskinesia|not_provided|not_specified	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.00540154496653	0.0002	0.000399361	0.0005	0.0002	0.0006	0	0	0.0003	0	0.0022	0.0004657	72	154602	rs377388499	0.0003	0.0003	0.0002	0.0003	0.0022	0.0003	0.0002	0.0020	0.0019	6.004e-05	0.0002	0	2.521e-05	1.874e-05	0.0021	0.0001	0.0003	0.0022	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0001	0	0.0003	0	0	0	0	0.0004	0	0.0021	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	0.000007	0.62929	N	0.104170	0.992916	0.41780	D	.	.	.	2.89	0.10196	T	-3.92	0.73151	D	0.229	0.28965	-1.0863	0.06173	T	0.027	0.11485	T	9	0.010042906	0.00225	T	0.005402	0.13862	T	0.130	0.35528	.	.	0.247322355667	0.24350	0.3876008304815128	0.38675	.	.	0.246520906687	0.03410	T	0.209726	0.57002	T	-0.430524	0.01472	T	-0.397361	0.33691	T	0.0487815743853669	0.05284	T	0.822518	0.48242	T	0.1951857	0.41297	0.21421741	0.45963	0.19428328	0.41172	0.23337096	0.48523	-5.884	0.45299	T	0.4281443655002869	0.51574	0.089	0.12228	B	.;.;.	.;.;.	2.390271	0.30693	18.52	0.99597207696157319	0.73983	0.29028	0.23713	N	AEFBHI	0.241632	0.36322	N	-0.378700305676832	0.26229	1.429921	-0.476162998931966	0.22812	1.240914	0.0714775686266725	0.15568	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.6	2.83	0.32150	0.400000	0.20657	1.242000	0.25113	0.676000	0.76740	0.000000	0.06391	0.376000	0.24592	0.299000	0.24476	0.2869:0.0:0.7131:0.0	9.740	0.39580	841	0.37094	Dynein heavy chain domain;Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	2924.43	34	chr7	21894771	.	G	A	2924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.886;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1209	9	0	1	0
chr7	23781504	23781504	A	G	exonic	STK31	.	nonsynonymous SNV	STK31:NM_001260504:exon16:c.A1982G:p.H661R,STK31:NM_001260505:exon16:c.A2051G:p.H684R,STK31:NM_031414:exon16:c.A2051G:p.H684R,STK31:NM_032944:exon16:c.A1982G:p.H661R	.	449	1021	49	3	0	55	0.0262279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0045	0.0103834	0.0079	0.0009	0.0026	0.0002	0.0003	0.0066	0.0111	0.0278	0.0073996	1144	154602	rs41273999	0.0060	0.0061	0.0053	0.0067	0.0278	0.0059	0.0059	0.0269	0.0265	0.0011	0.0030	0.0096	7.602e-05	0.0010	0.0209	0.0048	0.0079	0.0278	0.0042	0.0042	0.0038	0.0045	0.0263	0.0039	0.0038	0.0226	0.0212	0.0008	0	0.0044	0.0078	0	0.0005	0.0068	0.0053	0.0047	0.0263	0.662	0.04671	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.182217	0.17072	N	0.505693	0.988811	0.24368	N	0.49	0.13296	N	-0.15	0.65192	T	-0.35	0.12847	N	0.173	0.37301	-1.0199	0.23747	T	0.070	0.28708	T	10	0.0037102103	0.00068	T	.	.	.	0.064	0.18567	.	.	0.489938136499	0.48625	0.3644048311763441	0.36354	0.0671763946976	0.07503	0.306679606438	0.11405	T	7.55E-4	0.00354	T	-0.516774	0.00459	T	-0.494814	0.22886	T	0.000411108664880323	0.00003	T	0.60444	0.23473	T	0.040007167	0.05631	0.057216644	0.10363	0.040007167	0.05631	0.057216644	0.10362	-2.327	0.04705	T	.	.	0.054	0.00478	B	.;.;.	.;.;.	1.417616	0.18337	13.68	0.17921150690072041	0.00542	0.43593	0.27132	N	AEFI	0.079134	0.15977	N	-0.806970563940849	0.13132	0.644779	-0.670014664965709	0.17712	0.9430189	1.64631360154252E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.07	-0.0622	0.13113	0.959000	0.28838	0.915000	0.22659	0.691000	0.84096	0.997000	0.40164	0.408000	0.24745	0.927000	0.46353	0.4894:0.0:0.5106:0.0	10.015	0.41180	606	0.67383	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019637	0.005051	0.006793	0.014620	0.000000	0.025862	0.030488	0.034091	0.15	2962.43	34	chr7	23781504	.	A	G	2962.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.858;DP=444;ExcessHet=0;FS=2.17;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.449;SOR=0.509	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	8	1	1	0
chr7	24679250	24679250	G	C	exonic	MPP6	.	nonsynonymous SNV	MPP6:NM_001303037:exon10:c.G1234C:p.G412R,MPP6:NM_016447:exon11:c.G1234C:p.G412R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.0886706389413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.028	0.55759	D	0.999	0.77913	D	0.993	0.81110	D	0.000068	0.52346	D	0.000000	1	0.81001	D	3.825	0.95591	H	1.91	0.23283	T	-5.24	0.88767	D	0.856	0.85238	-0.4146	0.71563	T	0.264	0.63501	T	10	0.9472613	0.94054	D	0.088671	0.75178	D	0.565	0.82232	0.888	0.97226	0.587908032676	0.58465	0.920303388007737	0.92006	1.64548930497	0.89442	0.907022356987	0.97181	D	0.169855	0.51739	T	0.248509	0.78461	D	0.119189	0.78181	D	0.998522460460663	0.94393	D	0.987151	0.95601	D	0.8591695	0.88022	0.84184295	0.90960	0.8591695	0.88023	0.84184295	0.90961	-9.597	0.71461	D	.	.	0.845	0.79479	P	.;.;.	.;.;.	5.444100	0.90971	32	0.99944870263808461	0.99886	0.99312	0.94338	D	AEFBI	0.914214	0.87727	D	1.09138995377365	0.97971	17.14312	1.04387370962903	0.99310	21.83092	0.999999999999811	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.97	5.97	0.96935	10.003000	0.99689	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.428	0.99077	615	0.66512	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	86.43	81	chr7	24679250	.	G	C	86.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.763;DP=626;ExcessHet=0;FS=86.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.75;SOR=5.889	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	9	0	1	0
chr7	26152717	26152717	C	G	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C219G:p.H73Q	.	427	1071	24	0	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	0.000998403	0.0064	0	0	0	0	0.0242	0	0.0017	0.0007568	117	154602	rs576398496	0.0018	0.0018	0.0017	0.0018	0.0173	0.0017	0.0017	0.0140	0.0128	0.0004	0.0027	0.0349	0	3.072e-05	0.0173	0.0009	0.0054	0.0018	0.0019	0.0019	0.0020	0.0018	0.0024	0.0017	0.0017	0.0017	0.0015	0.0002	0	0.0024	0.0331	0	0	0.0137	0.0015	0.0071	0.0021	0.735	0.03753	T	0.673	0.06245	T	0.0	0.02946	B	0.0	0.01387	B	0.259267	0.03698	N	1.504130	1	0.08975	N	-0.69	0.01958	N	2.17	0.19020	T	0.22	0.04694	N	0.083	0.05929	-0.9941	0.31538	T	0.026	0.10954	T	10	0.003213942	0.00055	T	.	.	.	0.028	0.06331	0.147	0.05039	0.16115917748	0.15686	0.12624696372789396	0.12550	0.889988259667	0.70188	0.630593597889	0.57230	T	0.020447	0.16099	T	-0.678624	0.00049	T	-0.752499	0.03390	T	0.00425036761370737	0.00045	T	0.114889	0.00874	T	0.0308307	0.02815	0.030504718	0.01515	0.0308307	0.02815	0.030504718	0.01514	-3.212	0.12628	T	.	.	0.070	0.03372	B	.	.	0.181764	0.05692	2.139	0.50496829366368179	0.04394	0.00222	0.01252	N	AEFDBHCI	0.010430	0.00074	N	-1.72205867734724	0.00766	0.03310011	-1.74082218110768	0.00968	0.04337366	0.999999876021267	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.627883	0.49187	0	.	.	4.13	-3.4	0.04549	-0.458000	0.06813	0.051000	0.14001	-1.193000	0.01371	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.0:0.5025:0.2669:0.2307	10.514	0.44066	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025611	0.005814	0.024351	0.043046	0.100000	0.040816	0.007519	0.021930	0.05	529.43	35	chr7	26152717	.	C	G	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.87;DP=328;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=2.18;SOR=0.99	GT:AD:DP:GQ:PL	0/1:10,21:31:99:541,0,185	9	0	1	0
chr7	26152944	26152944	C	T	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C446T:p.A149V	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.000998403	0.0041	0	0.0208	0	.	0.0087	0	0.0029	0.0006662	103	154602	rs200699467	0.0064	0.0059	0.0065	0.0063	0.0073	0.0063	0.0062	0.0071	0.0071	0.0012	0.0049	0.0051	0	0.0006	0.0053	0.0073	0.0054	0.0024	0.0039	0.0040	0.0044	0.0035	0.0065	0.0037	0.0036	0.0060	0.0058	0.0017	0.0077	0.0031	0.0049	0.0002	0.0002	0.0034	0.0065	0.0038	0.0014	0.051	0.39334	T	0.021	0.58089	D	0.608	0.39540	P	0.306	0.41250	B	0.561020	0.11336	N	0.794258	1	0.08975	N	2.015	0.55033	M	2.23	0.18083	T	-1.55	0.37566	N	0.064	0.03613	-1.0556	0.12882	T	0.044	0.18906	T	10	0.004148364	0.00082	T	.	.	.	0.031	0.07369	.	.	0.298403945805	0.29456	0.17218008392784495	0.17138	1.79946624974	0.91631	0.801559329033	0.82201	T	0.065212	0.32632	T	-0.563246	0.00243	T	-0.577275	0.14789	T	0.0340217854875971	0.02641	T	0.452755	0.12846	T	0.035513688	0.04193	0.05589209	0.09889	0.035513688	0.04193	0.05589209	0.09889	-4.758	0.34098	T	.	.	0.097	0.15743	B	.	.	2.655587	0.34589	19.67	0.99622406544648956	0.75533	0.39657	0.26262	N	AEFBHCI	0.052224	0.09301	N	-0.323381573486189	0.28262	1.557411	-0.370738187714241	0.25873	1.425612	0.999998999096297	0.74766	0.733237	0.96898	0	0.56911	0.20461	1	0.600757	0.32118	0	0.375	0.06713	1	.	.	4.67	2.79	0.31792	0.020000	0.13359	0.932000	0.22787	0.463000	0.21641	0.004000	0.16614	0.467000	0.25033	0.079000	0.17189	0.3824:0.6176:0.0:0.0	9.566	0.38561	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006803	0.014493	0.002415	0.000000	0.000000	0.000000	0.005208	0.000000	0.05	223.43	34	chr7	26152944	.	C	T	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=289;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-0.895;SOR=1.302	GT:AD:DP:GQ:PL	0/0:17,0:17:48:0,48,720	9	0	1	0
chr7	26185116	26185116	G	C	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon4:c.G1418C:p.S473T	.	419	1084	19	0	0	19	0.0086877	.	.	.	2828353	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.027	0.0056447648091	0.0028	0.000998403	0.0022	0.0003	0.0018	0	0	0.0034	0.0022	0.0011	0.0003687	57	154602	rs148970492	0.0017	0.0017	0.0017	0.0018	0.0217	0.0017	0.0017	0.0186	0.0174	0.0004	0.0025	0.0351	0	1.873e-05	0.0217	0.0008	0.0052	0.0014	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0016	0.0016	0.0014	0.0002	0	0.0022	0.0331	0	0	0.0102	0.0013	0.0057	0.0025	0.091	0.31834	T	0.39	0.15506	T	0.001	0.07471	B	0.002	0.06944	B	0.683167	0.10241	N	0.878634	1	0.08975	N	2.455	0.71248	M	1.36	0.34452	T	-1.68	0.40082	N	0.085	0.06190	-0.9893	0.32778	T	0.069	0.28379	T	10	0.0036691427	0.00067	T	0.005645	0.14591	T	0.027	0.05988	.	.	0.343788945184	0.33981	0.1470148266944232	0.14623	0.00116936903274	0.00099	0.240790098906	0.02861	T	0.079789	0.36211	T	-0.589835	0.00168	T	-0.62496	0.10799	T	0.00694223880851506	0.00079	T	0.325667	0.06705	T	0.07156396	0.15854	0.05256115	0.08682	0.07156396	0.15854	0.05256115	0.08681	-4.556	0.31614	T	.	.	0.085	0.10062	B	.	.	-0.642518	0.01459	0.089	0.91445454571320628	0.20715	0.00190	0.01102	N	AEFDGBHCI	0.138395	0.25968	N	-0.822262829471552	0.12742	0.6230694	-0.87154998205728	0.12770	0.6588193	0.999999978988595	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.46	1.49	0.21966	-0.474000	0.06686	-0.990000	0.06682	-1.937000	0.00494	0.000000	0.06391	0.000000	0.08366	0.116000	0.19000	0.2138:0.3675:0.2934:0.1253	2.335	0.03986	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023782	0.007353	0.040984	0.042017	0.000000	0.017544	0.007143	0.004098	0.05	1587.43	39	chr7	26185116	.	G	C	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=479;ExcessHet=0;FS=1.324;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-1.087;QD=10.87;ReadPosRankSum=-0.012;SOR=0.867	GT:AD:DP:GQ:PL	0/1:80,66:146:99:1599,0,1925	9	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	128.48	191	chr7	27094574	.	GACCC	G	128.48	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.838;DP=649;ExcessHet=0.2348;FS=132.811;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=2.2;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	8	0	2	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	297.11	189	chr7	27094578	.	C	CGGGG	297.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.654;DP=802;ExcessHet=0.2348;FS=90.403;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=2.17;SOR=8.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,26:178:99:.:.:173,0,5627:.	8	0	2	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	37203.1	176	chr7	27095695	.	C	*	37203.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=1416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.64;ReadPosRankSum=-2.133;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:105:99:.:.:3332,3353,3739:.	9	0	1	0
chr7	27095698	27095706	TGGTGGTGG	-	exonic	HOXA1	.	nonframeshift deletion	HOXA1:NM_005522:exon1:c.207_215del:p.H70_H72del,HOXA1:NM_153620:exon1:c.207_215del:p.H70_H72del	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	0	195	5	0	26	31	0.0126582	.	.	.	579318	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	0.0008	0.0014	0	0	0.0026	0.0059	0.0253	0.0005763	15	26028	rs747464910	0.0035	0.0025	0.0029	0.0043	0.0485	0.0034	0.0034	0.0463	0.0454	0.0009	0.0052	0.0268	0	9.787e-05	0.0200	0.0014	0.0063	0.0485	0.0018	0.0018	0.0014	0.0022	0.0134	0.0016	0.0016	0.0106	0.0096	0.0004	0	0.0035	0.0180	0	0	0.0224	0.0010	0.0046	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2035.01	38	chr7	27095697	.	ATGGTGGTGG	A	2035.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.29;DP=668;ExcessHet=0;FS=3.335;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=3.72;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	0	1	1
chr7	27095700	27095700	G	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	10	1349	116	9	38	172	0.0473164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2100.6	38	chr7	27095700	.	G	*	2100.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=673;ExcessHet=0.2348;FS=2.504;InbreedingCoeff=-0.113;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.68;ReadPosRankSum=1.56;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr7	27156238	27156238	T	C	exonic	HOXA7	.	nonsynonymous SNV	HOXA7:NM_006896:exon1:c.A308G:p.K103R	.	415	1095	12	0	0	12	0.00544959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	.	0.0056	0.0141773	0.0102	0.0323	0.0193	0	0	0.0040	0.0173	0.0204	0.0060154	930	154602	rs35510017	0.0035	0.0035	0.0032	0.0039	0.0200	0.0034	0.0034	0.0188	0.0183	0.0200	0.0096	0.0050	7.596e-05	0	0.0195	0.0018	0.0066	0.0168	0.0087	0.0087	0.0080	0.0094	0.0200	0.0083	0.0081	0.0189	0.0184	0.0200	0	0.0122	0.0046	0	9.406e-05	0.0578	0.0021	0.0175	0.0184	0.191	0.21066	T	0.421	0.14075	T	0.893	0.49136	P	0.402	0.44547	B	0.000058	0.53742	D	0.123621	0.868877	0.35525	D	1.59	0.40313	L	-2.75	0.90792	D	-0.79	0.21860	N	0.368	0.40963	0.207	0.86025	D	0.426	0.76969	T	10	0.0062873065	0.00142	T	.	.	.	0.361	0.68141	.	.	0.870290592605	0.86902	0.4730644349732166	0.47225	1.07468009698	0.76925	0.681364357471	0.64464	T	0.067694	0.33267	T	-0.394623	0.02510	T	-0.32403	0.42131	T	0.0216822671136913	0.00873	T	0.571443	0.20372	T	0.16014619	0.35936	0.25390467	0.51046	0.16014619	0.35936	0.25390467	0.51045	-4.448	0.30203	T	.	.	0.081	0.08224	B	.	.	3.368921	0.46543	22.3	0.98907069079365495	0.48290	0.93334	0.57939	D	ALL	0.699897	0.65709	D	0.38223975594174	0.60459	4.235092	0.433716534570468	0.63678	4.606424	0.999999999999995	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.581474	0.35302	0	.	.	5.59	5.59	0.84677	5.803000	0.68791	6.137000	0.53999	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.771	0.77938	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.033941	0.097938	0.036685	0.038012	0.000000	0.017241	0.003125	0.011450	0.05	1039.43	34	chr7	27156238	.	T	C	1039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.35;DP=378;ExcessHet=0;FS=1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=1.5;SOR=0.85	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1017	9	0	1	0
chr7	27827745	27827745	A	G	exonic	TAX1BP1	.	nonsynonymous SNV	TAX1BP1:NM_001362795:exon14:c.A1772G:p.E591G,TAX1BP1:NM_001206902:exon15:c.A1496G:p.E499G,TAX1BP1:NM_001079864:exon16:c.A1967G:p.E656G,TAX1BP1:NM_001206901:exon16:c.A1967G:p.E656G,TAX1BP1:NM_001362794:exon16:c.A2063G:p.E688G,TAX1BP1:NM_006024:exon16:c.A2093G:p.E698G	.	427	1075	20	0	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0100391378195	.	0.00119808	0.0009	0.0002	0.0004	0	0	5.998e-05	0.0044	0.0058	0.0007568	117	154602	rs557561150	0.0005	0.0005	0.0003	0.0007	0.0060	0.0004	0.0004	0.0056	0.0054	0.0002	0.0002	0	0	0	0.0023	0.0001	0.0005	0.0060	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	0.0003	0	0.0002	0	0	0.0002	0	0.0079	0.133	0.26409	T	0.326	0.20422	T	0.003	0.27003	B	0.004	0.31755	B	0.010281	0.29986	N	0.229900	0.999971	0.18612	N	1.1	0.28011	L	2.76	0.34452	T	-1.67	0.43524	N	0.253	0.33030	-1.0558	0.12829	T	0.050	0.21222	T	10	0.0037594736	0.00070	T	0.010039	0.26102	T	0.054	0.15330	.	.	0.52991035303	0.52639	0.19708113009405367	0.19625	0.27360457221	0.29856	0.359190165997	0.19268	T	0.134693	0.46609	T	-0.550393	0.00290	T	-0.561182	0.16267	T	0.0307653312747144	0.02108	T	0.859214	0.55237	D	0.04913051	0.08677	0.06017375	0.11416	0.04913051	0.08676	0.06017375	0.11416	-4.464	0.30414	T	.	.	0.070	0.10642	B	.;.;.;.;.;.	.;.;.;.;.;.	3.336400	0.45955	22.2	0.99398469161555514	0.62702	0.96687	0.70405	D	AEFBI	0.784441	0.71513	D	-0.208811591779282	0.32771	1.851958	-0.0836054969567901	0.36067	2.094313	0.988689451905778	0.31595	0.732398	0.92422	0	0.709663	0.81188	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.87	4.71	0.59010	4.189000	0.58156	9.245000	0.79449	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.7925:0.0:0.0713:0.1362	6.711	0.22466	502	0.75873	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	1310.43	35	chr7	27827745	.	A	G	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.461;DP=411;ExcessHet=0;FS=1.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.94;SOR=0.923	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,978	9	0	1	0
chr7	28955837	28955837	T	C	exonic	TRIL	.	nonsynonymous SNV	TRIL:NM_014817:exon1:c.A2210G:p.H737R	.	419	1087	15	1	0	17	0.00775901	.	.	.	2343909	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0.0007	0	0	0	0.0002	0	0.0014	9.7e-05	15	154602	rs552268645	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	8.407e-05	3.977e-05	0	0	0.0013	0.0001	0.0003	0.0014	0.0001	0.0001	0.0001	0.0002	0.0002	9.144e-05	7.7e-05	0.0001	0.0001	2.405e-05	0	0.0001	0.0003	0	0	0	0.0002	0	0.0002	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	.	.	.	0.975	0.24501	L	.	.	.	.	.	.	0.213	0.23758	.	.	.	.	.	.	.	0.037733972	0.02147	T	.	.	.	.	.	.	.	0.16115917748	0.15686	0.7757780889235907	0.77527	.	.	0.88207089901	0.94237	D	0.026249	0.19463	T	-0.190091	0.22246	T	-0.0759077	0.65201	T	.	.	.	0.744825	0.36507	T	0.24914415	0.47907	0.48429352	0.70146	0.24914415	0.47907	0.48429352	0.70147	-3.94	0.22903	T	.	.	0.495	0.64371	A	.	.	4.608357	0.73054	25.9	0.87910761823756434	0.17573	0.91664	0.54002	D	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.999999999999941	0.74766	0.110573	0.02883	0	0.085267	0.02369	0	0.012449	0.00143	3	0.175304	0.04163	0	0.954394	0.63069	4.77	4.77	0.60425	1.400000	0.34186	6.033000	0.52942	0.656000	0.54149	0.930000	0.32276	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.457	0.67002	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000596	0.000000	0.000000	0.000000	0.000000	0.000000	0.003704	0.000000	0.05	815.43	36	chr7	28955837	.	T	C	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.252;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.238;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	9	0	1	0
chr7	28956050	28956050	C	T	exonic	TRIL	.	nonsynonymous SNV	TRIL:NM_014817:exon1:c.G1997A:p.G666E	.	421	1085	15	1	0	17	0.00777321	.	.	.	2343908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0009	0.0018	0	0	0	0.0002	0	0.0015	0.0001682	26	154602	rs562686571	0.0002	0.0002	0.0001	0.0002	0.0014	0.0002	0.0002	0.0012	0.0011	0	0.0001	3.962e-05	0	0	0.0012	9.872e-05	0.0004	0.0014	0.0001	0.0001	0.0001	0.0002	0.0002	9.734e-05	8.25e-05	0.0001	0.0001	2.404e-05	0	0.0001	0.0003	0	0	0	0.0002	0.0005	0.0002	.	.	.	0.0	0.92824	D	0.161	0.28372	B	0.04	0.23831	B	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.281	0.31814	.	.	.	.	.	.	.	0.020411104	0.00470	T	.	.	.	.	.	.	.	0.235664433957	0.23186	0.6701716336355094	0.66955	.	.	0.911084532738	0.97572	D	0.074256	0.34896	T	-0.0726185	0.40906	T	0.0928331	0.76434	D	.	.	.	0.772323	0.40326	T	0.16641808	0.36975	0.44492948	0.67658	0.16641808	0.36975	0.44492948	0.67658	-4.138	0.25848	T	.	.	0.450	0.62221	A	.	.	3.933020	0.57499	23.9	0.96275039957709485	0.29263	0.99439	0.96043	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999999999997	0.74766	0.166803	0.03914	0	0.166317	0.03975	0	0.132232	0.03703	1	0.155393	0.04056	0	0.81525	0.48538	4.99	3.18	0.35615	0.598000	0.23774	5.878000	0.50610	0.541000	0.25215	0.002000	0.15269	1.000000	0.68203	0.947000	0.49155	0.0:0.8449:0.0:0.1551	10.660	0.44888	905	0.23532	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002575	0.000000	0.004144	0.000000	0.000000	0.000000	0.006289	0.003846	0.05	1336.43	36	chr7	28956050	.	C	T	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.2;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=2.22;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	9	0	1	0
chr7	28956680	28956680	-	GCTGCG	exonic	TRIL	.	nonframeshift insertion	TRIL:NM_014817:exon1:c.1366_1367insCGCAGC:p.Q455_L456insPQ	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	8.994e-05	0	0	0.0002	0	8.472e-05	9.7e-05	15	154602	rs774355324	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	9.638e-05	0	0	0	0.0014	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0001	0	0	9.427e-05	0	0.0003	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1020.39	56	chr7	28956680	.	A	AGCTGCG	1020.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.289;DP=535;ExcessHet=0;FS=5.275;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.282;SOR=1.44	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,119,1474	9	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	42.05	81	chr7	30446188	.	C	G	42.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-4.286;DP=776;ExcessHet=0;FS=234.721;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=1.66;SOR=7.978	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1250	8	0	1	1
chr7	30451651	30451651	T	C	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon6:c.A1766G:p.N589S,NOD1:NM_006092:exon6:c.A1766G:p.N589S	.	.	.	.	.	.	.	.	.	.	.	3562973	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0472844165293	0.0002	.	9.103e-05	0	0	0.0001	0	0.0002	0	0	7.12e-05	11	154602	rs138046644	5.405e-05	5.404e-05	5.718e-05	5.088e-05	0.0002	4.411e-05	4.083e-05	5.422e-05	4.966e-05	0	0	0	2.519e-05	0	0.0002	6.655e-05	0	3.478e-05	6.585e-05	6.572e-05	7.723e-05	5.393e-05	0.0001	3.524e-05	2.622e-05	7.919e-05	6.002e-05	0	0	0	0	0	0	0	0.0001	0	0	0.403	0.10378	T	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.95	0.84923	M	-0.47	0.70133	T	-0.42	0.14193	N	0.865	0.86191	-0.3163	0.74525	T	0.450	0.78455	T	10	0.7688303	0.76917	D	0.047284	0.62851	D	0.219	0.51417	.	.	0.950212023978	0.94969	0.5506166352498877	0.54987	0.584187970407	0.54108	0.495020151138	0.38134	T	0.11092	0.42601	T	-0.228172	0.16891	T	-0.350195	0.39184	T	0.272495069771961	0.23854	T	0.884712	0.60854	D	0.055037938	0.10641	0.10473879	0.25163	0.055037938	0.10641	0.10473879	0.25162	-7.917	0.60503	D	.	.	0.121	0.25100	B	.	.	3.575360	0.50375	22.9	0.99675002668254364	0.78846	0.98488	0.83308	D	AEFBI	0.665425	0.63424	D	0.596116470928059	0.72930	5.884133	0.600083669192362	0.74946	6.224475	0.999652827749984	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	6.080000	0.70936	1.588000	0.27514	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	14.720	0.68909	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1643.43	35	chr7	30451651	.	T	C	1643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=499;ExcessHet=0;FS=1.925;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.292;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1179	9	0	1	0
chr7	30785928	30785928	C	A	exonic	MINDY4	.	nonsynonymous SNV	MINDY4:NM_032222:exon4:c.C599A:p.S200Y	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0074	0.00179712	0.0081	0.0013	0.0031	0	0.0110	0.0124	0.0133	0.0015	0.0079106	1223	154602	rs75843887	0.0081	0.0081	0.0083	0.0080	0.0088	0.0080	0.0080	0.0087	0.0086	0.0010	0.0032	0.0227	0	0.0127	0.0054	0.0088	0.0080	0.0011	0.0069	0.0069	0.0070	0.0069	0.0106	0.0066	0.0065	0.0099	0.0097	0.0015	0	0.0036	0.0230	0	0.0112	0.0068	0.0106	0.0080	0.0010	0.034	0.44029	D	0.204	0.27235	T	0.028	0.19712	B	0.01	0.14941	B	0.503743	0.05107	N	1.264020	0.999958	0.19072	N	.	.	.	3.97	0.03326	T	-1.32	0.32991	N	0.288	0.32591	-0.9421	0.42282	T	0.005	0.01761	T	10	0.004668385	0.00098	T	.	.	.	0.069	0.20116	.	.	0.136095386433	0.13204	0.2080776453888669	0.20723	0.0578573084616	0.06410	0.273562699556	0.06611	T	0.006385	0.05814	T	-0.674081	0.00052	T	-0.72937	0.04355	T	0.00581277827046626	0.00064	T	0.634537	0.24876	T	0.055441633	0.10775	0.07531553	0.16570	0.055441633	0.10774	0.07531553	0.16569	-5.595	0.42746	T	.	.	0.083	0.09288	B	.	.	0.469521	0.08392	5.145	0.77028685623847437	0.11707	0.06867	0.12892	N	AEFDBI	0.066421	0.13007	N	-0.649588119683149	0.17472	0.8993939	-0.538216093125873	0.21119	1.140972	0.99733953605908	0.35509	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.635551	0.53088	0	.	.	5.39	2.08	0.26079	-0.281000	0.08489	-1.362000	0.05620	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.871000	0.41478	0.0:0.339:0.2936:0.3673	2.886	0.05312	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.005848	0.050000	0.008621	0.015244	0.003788	0.1	3665.12	33	chr7	30785928	.	C	A	3665.12	.	AC=2;AF=0.1;AN=20;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.33;SOR=1.208	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1044	9	1	0	0
chr7	30971980	30971980	G	A	exonic	GHRHR	.	nonsynonymous SNV	GHRHR:NM_000823:exon6:c.G482A:p.R161Q	Growth hormone deficiency, isolated, type IB	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.14232649169	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1423511225	1.231e-05	1.231e-05	1.225e-05	1.238e-05	1.079e-05	7.7e-06	6.35e-06	5.75e-06	4.55e-06	0	0	0	0	7.493e-05	0	1.079e-05	3.312e-05	0	6.578e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999978	0.81001	D	3.63	0.94006	H	1.22	0.37052	T	-3.89	0.73151	D	0.945	0.95256	-0.1733	0.78347	T	0.316	0.68602	T	9	0.98841184	0.99257	D	0.142326	0.82470	D	0.598	0.84074	0.967	0.99679	0.567895071198	0.56453	0.8721766384150222	0.87183	0.519879735987	0.49802	0.502553582191	0.39183	T	0.581754	0.86315	D	0.310365	0.83774	D	0.208042	0.83563	D	0.998424291610718	0.94111	D	0.969503	0.97531	D	0.89280576	0.90749	0.8049431	0.88580	0.89280576	0.90750	0.8049431	0.88581	-11.308	0.81320	D	0.7420922183359305	0.82418	0.433	0.61342	A	.;.	.;.	5.601100	0.92456	32	0.99939332263391323	0.99734	0.98719	0.85981	D	AEFDGBI	0.892877	0.83026	D	0.919001468993172	0.92659	11.55222	0.811484327488168	0.90581	10.473	0.999999995018801	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	4.66	4.66	0.57857	9.568000	0.97316	11.588000	0.93387	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.209000	0.22154	0.0:0.0:1.0:0.0	15.093	0.71881	926	0.17793	GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2358.43	40	chr7	30971980	.	G	A	2358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=482;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.05;SOR=0.63	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1100	9	0	1	0
chr7	31651224	31651224	-	G	exonic	ITPRID1	.	frameshift insertion	ITPRID1:NM_194300:exon11:c.2667dupG:p.Q891Tfs*25,ITPRID1:NM_001257968:exon12:c.2667dupG:p.Q891Tfs*25,ITPRID1:NM_001257967:exon13:c.2667dupG:p.Q891Tfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1905.39	35	chr7	31651224	.	T	TG	1905.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.232;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=-1.02;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1255	9	0	1	0
chr7	31652795	31652795	C	G	exonic	ITPRID1	.	nonsynonymous SNV	ITPRID1:NM_194300:exon13:c.C3101G:p.P1034R,ITPRID1:NM_001257967:exon15:c.C3101G:p.P1034R	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00615268077865	0.0032	0.00119808	0.0034	0.0005	0.0010	0	0.0009	0.0051	0.0011	0.0032	0.0033829	523	154602	rs34177136	0.0043	0.0043	0.0042	0.0044	0.0049	0.0042	0.0042	0.0048	0.0048	0.0005	0.0013	0.0040	0	0.0010	0.0031	0.0049	0.0038	0.0036	0.0031	0.0031	0.0033	0.0029	0.0055	0.0029	0.0028	0.0050	0.0048	0.0010	0	0.0011	0.0072	0	0.0007	0.0034	0.0055	0.0033	0.0010	0.006	0.61437	D	0.0	0.92824	D	0.815	0.45525	P	0.314	0.41528	B	0.843657	0.07014	N	1.098150	1	0.08975	N	.	.	.	2.26	0.17596	T	-1.48	0.36189	N	0.124	0.19459	-1.0302	0.20390	T	0.029	0.12365	T	10	0.0040017962	0.00077	T	0.006153	0.16111	T	0.031	0.07369	.	.	0.0986583533028	0.09354	.	.	.	.	0.252019762993	0.03984	T	0.004624	0.04028	T	-0.638039	0.00086	T	-0.686386	0.06600	T	0.0065397225368435	0.00073	T	0.679032	0.28770	T	0.045630172	0.07501	0.04477363	0.05876	0.045630172	0.07501	0.04477363	0.05875	-3.754	0.22062	T	.	.	0.113	0.22354	B	.;.;.;.	.;.;.;.	1.911327	0.24272	16.34	0.92222356321370735	0.21597	0.03313	0.08377	N	AEFI	0.059684	0.11290	N	-0.835650302720572	0.12406	0.6045303	-1.01817122154694	0.09386	0.4666579	0.780041901574174	0.23825	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	3.96	-0.303	0.12158	0.035000	0.13685	0.077000	0.14340	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.1791:0.504:0.0:0.3169	3.633	0.07680	850	0.35610	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.010870	0.002924	0.000000	0.008621	0.015244	0.003788	0.1	1734.14	37	chr7	31652795	.	C	G	1734.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.984;DP=423;ExcessHet=0.2348;FS=2.841;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.05;SOR=1.103	GT:AD:DP:GQ:PL	0/1:23,25:48:99:695,0,653	8	0	2	0
chr7	33096497	33096497	C	T	exonic	RP9	.	nonsynonymous SNV	RP9:NM_203288:exon5:c.G463A:p.V155I	.	5	1516	1	0	0	1	0.000329707	.	.	.	176987	not_provided|Retinitis_pigmentosa|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.114	.	0.0005	0.00239617	0.0016	0.0009	8.651e-05	0	0	1.498e-05	0	0.0114	0.0013713	212	154602	rs58377403	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	0.0007	8.946e-05	0	5.041e-05	0	0.0007	8.122e-06	0.0006	0.0103	0.0005	0.0005	0.0003	0.0008	0.0102	0.0004	0.0004	0.0079	0.0071	0.0008	0	0	0	0	0	0	0	0	0.0102	0.205	0.22224	T	0.224	0.25591	T	0.006	0.13644	B	0.002	0.06944	B	0.002157	0.37138	N	0.288654	0.994108	0.23586	N	1.155	0.29575	L	-1.66	0.83327	D	-0.54	0.17417	N	0.14	0.13911	-0.8088	0.54623	T	0.344	0.70916	T	10	0.0058200657	0.00130	T	.	.	.	0.114	0.32008	.	.	0.541149246611	0.53767	0.011893670648028801	0.01149	0.795883944927	0.66040	0.467322140932	0.34313	T	0.040517	0.25553	T	-0.440544	0.01284	T	-0.396192	0.33827	T	0.0112152093519789	0.00165	T	0.805019	0.45286	T	0.02517835	0.01428	0.03503643	0.02681	0.02681658	0.01789	0.037473053	0.03407	-2.683	0.07161	T	0.09472439018788473	0.06370	0.072	0.04277	B	.;.	.;.	0.397450	0.07687	4.362	0.9213565807397972	0.21494	0.05368	0.11229	N	AEFBHCI	0.028427	0.02501	N	-0.682693478851691	0.16515	0.8421074	-0.649702365751174	0.18223	0.9726028	0.446587844052554	0.20502	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.66	-0.294	0.12196	0.299000	0.18892	-0.388000	0.09495	0.530000	0.24713	0.271000	0.25055	0.000000	0.08366	0.753000	0.35893	0.0:0.5807:0.0:0.4193	8.708	0.33527	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1068.43	36	chr7	33096497	.	C	T	1068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.469;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.1;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1024	9	0	1	0
chr7	36522089	36522089	C	A	exonic	AOAH	.	stopgain	AOAH:NM_001177507:exon19:c.G1453T:p.G485X,AOAH:NM_001177506:exon20:c.G1549T:p.G517X,AOAH:NM_001637:exon20:c.G1549T:p.G517X	.	412	1108	1	1	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.000599042	0.0020	0.0005	0.0005	0.0001	0.0026	0.0030	0.0022	0.0009	0.0019728	305	154602	rs147438510	0.0027	0.0027	0.0027	0.0026	0.0032	0.0026	0.0026	0.0031	0.0031	0.0004	0.0010	3.826e-05	0	0.0016	0.0009	0.0032	0.0025	0.0007	0.0017	0.0017	0.0018	0.0017	0.0028	0.0016	0.0015	0.0025	0.0024	0.0005	0	0.0012	0	0.0002	0.0017	0	0.0028	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	0.001178	0.39978	N	0.177180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.862	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174182	0.71506	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.574721	0.97737	38	0.99412028838705724	0.63310	0.68165	0.33699	D	AEFDBI	0.075720	0.15213	N	0.894060035543365	0.91464	10.89774	0.698671777327739	0.82276	7.727536	0.999955419714364	0.48110	0.516011	0.20929	0	0.610034	0.51514	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	4.257000	0.58607	2.589000	0.33457	0.599000	0.40250	0.744000	0.29069	0.991000	0.31484	0.897000	0.43391	0.0:1.0:0.0:0.0	13.809	0.62741	923	0.18507	.;GDSL lipase/esterase;GDSL lipase/esterase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	878.43	36	chr7	36522089	.	C	A	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=403;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.658;SOR=0.922	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1239	9	0	1	0
chr7	36618320	36618320	G	A	exonic	AOAH	.	nonsynonymous SNV	AOAH:NM_001177507:exon9:c.C632T:p.P211L,AOAH:NM_001177506:exon10:c.C728T:p.P243L,AOAH:NM_001637:exon10:c.C728T:p.P243L	.	427	1065	28	2	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	0.0022	0.00878594	0.0093	0.0004	0.0258	0.0334	0.0109	0.0037	0.0143	0.0121	0.0084281	1303	154602	rs80187893	0.0046	0.0048	0.0044	0.0049	0.0327	0.0045	0.0045	0.0313	0.0307	0.0004	0.0235	0.0091	0.0327	0.0090	0.0092	0.0020	0.0057	0.0130	0.0051	0.0051	0.0041	0.0062	0.0278	0.0048	0.0047	0.0241	0.0227	0.0008	0	0.0131	0.0087	0.0278	0.0121	0.0034	0.0025	0.0066	0.0122	.	.	.	0.014	0.66756	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.813	0.81957	0.144	0.84958	D	0.472	0.79721	T	9	0.010548472	0.00234	T	.	.	.	.	.	.	.	.	.	0.7680294996490177	0.76751	.	.	0.489249646664	0.37333	T	0.496599	0.81883	T	0.040285	0.57085	T	0.308775	0.88597	D	0.0208232510523532	0.00782	T	0.954605	0.82717	D	0.7881408	0.83157	0.39030266	0.63829	0.7881408	0.83159	0.39030266	0.63829	-11.391	0.81759	D	.	.	0.274	0.52825	B	.;.;.	.;.;.	4.890986	0.80306	27.3	0.99870412119360086	0.94815	0.93504	0.58397	D	AEFBI	0.680081	0.64390	D	0.703733816015559	0.79876	7.171534	0.698820057804056	0.82288	7.730277	0.999991816901572	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	5.23	0.72570	5.619000	0.67408	11.398000	0.92662	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.824	0.78459	903	0.23940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.005435	0.002924	0.050000	0.008621	0.018293	0.003788	0.05	2201.43	33	chr7	36618320	.	G	A	2201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.19;DP=432;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=1.53;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	0	1	0
chr7	38260101	38260101	C	-	exonic	TARP	.	frameshift deletion	TARP:NM_001003806:exon4:c.323delG:p.G108Efs*26	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048	0.000998403	0.0052	0.0017	0.0040	0	0.0043	0.0076	0.0046	0.0012	0.0005379	14	26028	rs561829877	0.0052	0.0053	0.0053	0.0050	0.0061	0.0051	0.0050	0.0060	0.0060	0.0010	0.0024	0.0022	0	0.0040	0.0023	0.0061	0.0038	0.0010	0.0036	0.0036	0.0038	0.0035	0.0057	0.0034	0.0033	0.0052	0.0050	0.0012	0	0.0030	0.0023	0	0.0032	0.0035	0.0057	0.0050	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001868	0.000000	0.000000	0.000000	0.000000	0.008929	0.004032	0.000000	0.05	871.39	34	chr7	38260100	.	TC	T	871.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.95;MQRankSum=2.02;QD=4.76;ReadPosRankSum=-0.291;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1339	9	0	1	0
chr7	39339680	39339680	-	A	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.637_638insA:p.L213Hfs*94,POU6F2:NM_001166018:exon6:c.550_551insA:p.L184Hfs*94,POU6F2:NM_007252:exon6:c.550_551insA:p.L184Hfs*94	.	1	1503	15	0	3	18	0.00496524	.	.	.	4008052	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0.0018	0.0002	0.0038	0.0033	0.0004398	68	154602	rs766603583	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0008	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2860.1	102	chr7	39339680	.	C	CA	2860.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.39;DP=516;ExcessHet=0.2348;FS=3.353;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=2.64;SOR=0.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1103:.	8	0	2	0
chr7	39339681	39339681	T	G	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T638G:p.L213R,POU6F2:NM_001166018:exon6:c.T551G:p.L184R,POU6F2:NM_007252:exon6:c.T551G:p.L184R	.	1	1503	14	1	3	19	0.00529451	.	.	.	722503	not_provided|POU6F2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.297	0.0745331248071	.	.	0.0006	0	0	0	0.0018	0.0002	0.0039	0.0032	0.0004269	66	154602	rs566759150	0.0010	0.0014	0.0008	0.0012	0.0064	0.0009	0.0009	0.0060	0.0058	0.0001	0.0006	0.0007	0	0.0021	0.0026	0.0006	0.0009	0.0064	0.0013	0.0014	0.0011	0.0015	0.0077	0.0012	0.0011	0.0057	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0014	0.0014	0.0077	0.05	0.51248	D	0.384	0.17750	T	0.995	0.77913	D	0.979	0.84481	D	0.003268	0.00950	U	5.088810	0.957031	0.38004	D	0.345	0.11182	N	0.93	0.86349	T	0.27	0.06868	N	0.711	0.75101	-0.2995	0.74999	T	0.576	0.84685	D	10	0.008406937	0.00191	T	0.074533	0.72064	D	0.297	0.61730	.	.	0.902403036094	0.90142	0.13895129386167432	0.13818	0.188262878971	0.21156	0.73977124691	0.72940	T	0.052548	0.29192	T	0.0947825	0.63724	D	-0.101628	0.63272	T	0.0788612767488848	0.09841	T	0.480052	0.14930	T	0.313356	0.54075	0.32990277	0.58865	0.4213184	0.62180	0.32705986	0.58606	-7.142	0.57933	T	.	.	0.136	0.39064	B	.;.;.;.;.	.;.;.;.;.	2.936691	0.39031	20.9	0.98927095159951717	0.48676	0.99051	0.90508	D	AEFDBI	0.822586	0.74288	D	0.268068562511938	0.54539	3.619105	0.319795148205281	0.56704	3.834135	0.743475314039906	0.23249	0.554377	0.28877	0	0.624306	0.53593	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.54	4.54	0.55220	6.366000	0.73033	4.896000	0.45813	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	13.541	0.61136	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	3329.06	102	chr7	39339681	.	T	G	3329.06	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.02;DP=513;ExcessHet=0.2348;FS=3.271;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=2.95;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1103:.	8	0	2	0
chr7	39339682	39339682	-	AG	exonic	POU6F2	.	frameshift insertion	POU6F2:NM_001370959:exon5:c.639_640insAG:p.Q214Sfs*118,POU6F2:NM_001166018:exon6:c.552_553insAG:p.Q185Sfs*118,POU6F2:NM_007252:exon6:c.552_553insAG:p.Q185Sfs*118	.	1	1503	2	0	16	18	0.000664894	.	.	.	4008053	Wilms_tumor_5	MONDO:MONDO:0011112,MedGen:C1832099,OMIM:601583,Orphanet:654	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0.0005	0.0001	0.0013	0.0031	3.84e-05	1	26028	rs754399260	0.0009	0.0013	0.0007	0.0011	0.0064	0.0009	0.0008	0.0059	0.0058	0.0001	0.0006	0.0007	0	0.0005	0.0026	0.0006	0.0008	0.0064	0.0010	0.0011	0.0009	0.0012	0.0073	0.0009	0.0009	0.0054	0.0047	0.0002	0	0.0009	0.0009	0	0.0005	0	0.0014	0.0009	0.0073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3329.03	102	chr7	39339682	.	C	CAG	3329.03	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.51;DP=515;ExcessHet=0.2348;FS=3.271;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=2.81;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1103:.	8	0	2	0
chr7	39339687	39339687	T	A	exonic	POU6F2	.	nonsynonymous SNV	POU6F2:NM_001370959:exon5:c.T644A:p.L215H,POU6F2:NM_001166018:exon6:c.T557A:p.L186H,POU6F2:NM_007252:exon6:c.T557A:p.L186H	.	2	1502	14	1	3	19	0.00529801	.	.	.	722504	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.173	0.128482008254	.	0.00219649	0.0008	0	0	0	0.0019	0.0003	0.0040	0.0045	0.0006662	103	154602	rs558679060	0.0012	0.0014	0.0010	0.0014	0.0072	0.0011	0.0011	0.0068	0.0066	0.0001	0.0006	0.0007	0	0.0021	0.0035	0.0008	0.0010	0.0072	0.0013	0.0014	0.0011	0.0015	0.0078	0.0012	0.0011	0.0058	0.0051	0.0002	0	0.0009	0.0009	0	0.0037	0	0.0015	0.0014	0.0078	0.013	0.68238	D	0.091	0.41405	T	0.0	0.02946	B	0.0	0.04355	B	0.526992	0.11679	U	0.674572	0.687166	0.33290	D	0	0.06538	N	0.99	0.86283	T	0.44	0.04091	N	0.472	0.55799	-0.6724	0.61720	T	0.344	0.70899	T	10	0.0053934455	0.00118	T	0.128482	0.81043	D	0.173	0.43840	.	.	0.795581171059	0.79368	0.2851193258759142	0.28424	0.164144482972	0.18523	0.573362588882	0.49153	T	0.081322	0.36571	T	0.0179733	0.54108	T	-0.211959	0.53507	T	0.0254729737496765	0.01335	T	0.329867	0.07558	T	0.11896534	0.28020	0.18976596	0.42341	0.14952165	0.34083	0.16491888	0.38178	-5.183	0.39235	T	.	.	0.233	0.48572	B	.;.;.;.;.	.;.;.;.;.	2.685035	0.35034	19.79	0.95294137525612943	0.26605	0.86589	0.45901	D	AEFDBI	0.091232	0.18482	N	-0.65631439813835	0.17276	0.8876356	-0.530111321139244	0.21337	1.15378	2.95067598432571E-4	0.06406	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.39	1.85	0.24418	2.459000	0.44680	2.056000	0.30370	0.665000	0.62972	1.000000	0.71638	0.992000	0.31684	0.997000	0.79791	0.6554:0.0:0.0:0.3446	8.716	0.33575	870	0.31527	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005699	0.010101	0.002717	0.006993	0.000000	0.025862	0.000000	0.007576	0.1	3148.14	105	chr7	39339687	.	T	A	3148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.41;DP=507;ExcessHet=0.2348;FS=4.108;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=2.77;SOR=0.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1103:.	8	0	2	0
chr7	39950852	39950854	GCC	-	exonic	CDK13	.	nonframeshift deletion	CDK13:NM_003718:exon1:c.211_213del:p.A76del,CDK13:NM_031267:exon1:c.211_213del:p.A76del	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, Autosomal dominant	333	1184	5	0	0	5	0.00210704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0	0	0	.	0	0	0.0063	0.0001153	3	26028	rs752685344	0.0007	0.0053	0.0006	0.0008	0.0031	0.0006	0.0006	0.0027	0.0026	0.0002	0.0015	0.0011	0.0002	0.0013	0.0015	0.0005	0.0007	0.0031	0	4.603e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.4	28	chr7	39950851	.	AGCC	A	105.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.74;DP=158;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.02;ReadPosRankSum=2.33;SOR=0.193	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,338	9	0	1	0
chr7	42023572	42023572	C	G	exonic	GLI3	.	nonsynonymous SNV	GLI3:NM_000168:exon10:c.G1393C:p.G465R	Greig cephalopolysyndactyly syndrome, Autosomal dominant;Pallister-Hall syndrome, Autosomal dominant;Polydactyly, postaxial, types A1 and B, Autosomal dominant;Polydactyly, preaxial, type IV, Autosomal dominant	0	1477	44	1	0	46	0.0153333	.	.	.	252866	Pallister-Hall_syndrome|Greig_cephalopolysyndactyly_syndrome|not_provided|Polydactyly|not_specified	MONDO:MONDO:0007804,MedGen:C0265220,OMIM:146510,Orphanet:672|MONDO:MONDO:0008287,MedGen:C0265306,OMIM:175700,Orphanet:380|MedGen:C3661900|Human_Phenotype_Ontology:HP:0006034,Human_Phenotype_Ontology:HP:0006046,Human_Phenotype_Ontology:HP:0006123,Human_Phenotype_Ontology:HP:0009605,Human_Phenotype_Ontology:HP:0010442,MONDO:MONDO:0021003,MedGen:C0152427,OMIM:603596|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0299272507372	0.0038	0.000998403	0.0044	0.0004	0.0029	0	0.0029	0.0068	0.0055	0.0012	0.004062	628	154602	rs35488756	0.0040	0.0040	0.0038	0.0042	0.0229	0.0039	0.0039	0.0197	0.0185	0.0008	0.0028	0.0083	2.519e-05	0.0025	0.0229	0.0043	0.0044	0.0014	0.0033	0.0033	0.0034	0.0032	0.0050	0.0031	0.0030	0.0046	0.0044	0.0004	0	0.0031	0.0072	0.0002	0.0027	0.0377	0.0050	0.0086	0.0021	0.386	0.10980	T	0.079	0.42086	T	0.017	0.17573	B	0.01	0.14941	B	0.000000	0.84330	D	0.043845	1	0.81001	D	1.905	0.50856	L	-0.39	0.69158	T	-1.97	0.45587	N	0.822	0.81758	-0.7588	0.57471	T	0.218	0.58007	T	10	0.00919497	0.00208	T	0.029927	0.52343	D	0.226	0.52472	0.269	0.21735	0.735286814614	0.73292	0.3599121688930344	0.35905	0.631794354057	0.57122	0.860202550888	0.91141	D	0.364331	0.72993	T	-0.169071	0.25376	T	-0.0131616	0.69478	D	0.0198023934957371	0.00682	T	0.944506	0.78979	D	0.23039405	0.45793	0.28803176	0.54817	0.24898969	0.47890	0.29560518	0.55591	-9.105	0.68369	D	0.7767274389200907	0.85711	0.816	0.78032	P	.;.	.;.	4.526654	0.71028	25.6	0.99819326486150983	0.90238	0.98718	0.85968	D	AEFDBI	0.803880	0.72890	D	0.164509815850464	0.49502	3.149775	0.343521531659773	0.58118	3.980624	1.0	0.98316	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.81	5.81	0.92413	6.058000	0.70754	5.965000	0.51894	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.091	0.97819	894	0.26265	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.018127	0.010101	0.021739	0.014620	0.000000	0.034483	0.015244	0.015152	0.05	1391.43	34	chr7	42023572	.	C	G	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.841;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.18;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	9	0	1	0
chr7	42911937	42911937	-	CGAGCA	exonic	C7orf25	.	nonframeshift insertion	C7orf25:NM_001099858:exon1:c.130_131insTGCTCG:p.L43_A44insVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465403726	5.418e-05	5.134e-05	5.64e-05	5.19e-05	6.905e-05	4.391e-05	4.036e-05	4.22e-05	3.853e-05	0	0	0.0002	6.905e-05	0.0001	0	5.401e-05	3.623e-05	2.702e-05	0.0001	0.0001	0.0001	0.0001	0.0008	7.089e-05	5.746e-05	0.0003	0.0002	0	0	0	0.0009	0.0008	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	433.39	36	chr7	42911937	.	G	GCGAGCA	433.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.302;DP=263;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.138;SOR=0.204	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,348	9	0	1	0
chr7	42912022	42912022	G	T	exonic	C7orf25	.	nonsynonymous SNV	C7orf25:NM_001099858:exon1:c.C46A:p.P16T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.021676176121	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370605170	7.516e-06	7.525e-06	5.929e-06	9.148e-06	0.0002	3.8e-06	2.77e-06	9.719e-05	6.657e-05	0.0002	3.626e-05	0	0	0	0	0	5.421e-05	0	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.717e-05	0.0003	0.0003	0.0005	0	0.0001	0	0	0	0	0	0	0.0002	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.21933	N	.	.	.	0.69	0.51714	T	-0.08	0.08187	N	0.113	0.10056	-1.0455	0.15680	T	0.062	0.25780	T	9	0.049670786	0.04591	T	0.021676	0.44481	T	0.123	0.34020	0.17	0.07536	0.193865811164	0.18958	0.1842729939024889	0.18346	0.286599048066	0.31053	.	.	.	.	.	.	-0.459399	0.00992	T	-0.508085	0.21512	T	0.178984736439183	0.19171	T	0.448855	0.12628	T	.	.	.	.	.	.	.	.	-4.46	0.30362	T	.	.	0.090	0.12702	B	.;.	.;.	0.333038	0.07071	3.638	0.93349383348464454	0.23083	0.01238	0.04371	N	ALL	0.044686	0.07219	N	-0.904979672407977	0.10724	0.5139092	-0.877261702806252	0.12634	0.651006	0.999999999999994	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.289072	0.05449	1	0.003489	0.00041	3	.	.	4.55	2.61	0.30255	-1.786000	0.01862	-0.079000	0.12201	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1024:0.0:0.6448:0.2528	5.341	0.15288	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	781.43	36	chr7	42912022	.	G	T	781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.747;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.03;SOR=0.599	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,692	9	0	1	0
chr7	43445278	43445278	C	G	exonic	HECW1	.	nonsynonymous SNV	HECW1:NM_001287059:exon10:c.C2106G:p.C702W,HECW1:NM_015052:exon11:c.C2106G:p.C702W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.0361142346917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.182	0.38305	T	0.999	0.77913	D	0.949	0.68658	D	0.113898	0.19297	N	0.579212	1	0.81001	D	2.19	0.61577	M	1.39	0.34648	T	-1.52	0.45587	N	0.811	0.80669	-1.0021	0.29313	T	0.141	0.46110	T	10	0.5128976	0.62200	D	0.036114	0.56785	D	0.167	0.42761	0.171	0.07655	0.082315109003	0.07666	0.44513706627335126	0.44431	1.64548930497	0.89442	0.744890451431	0.73693	T	0.089055	0.38292	T	-0.0381602	0.46222	T	-0.292591	0.45503	T	0.963783085346222	0.66761	D	0.882412	0.60266	D	0.62203467	0.73872	0.32320476	0.58254	0.62203467	0.73873	0.32320476	0.58253	-9.826	0.72863	D	.	.	0.636	0.81331	P	.;.	.;.	4.344058	0.66670	25.0	0.99458857618614693	0.65684	0.84770	0.43859	D	AEFGBHCI	0.735481	0.68128	D	0.293377747399553	0.55813	3.745338	0.251152499540474	0.52714	3.44448	0.999931580684981	0.46732	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.36	3.46	0.38718	1.967000	0.40115	1.583000	0.27486	0.454000	0.21428	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7102:0.0:0.2898	6.932	0.23626	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2098.43	36	chr7	43445278	.	C	G	2098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.159;DP=534;ExcessHet=0;FS=2.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=1.54;SOR=0.621	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1183	9	0	1	0
chr7	43456393	43456393	C	T	exonic	HECW1	.	nonsynonymous SNV	HECW1:NM_001287059:exon11:c.C2495T:p.P832L,HECW1:NM_015052:exon13:c.C2597T:p.P866L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.010439985946	0.0014	0.000998403	0.0024	0.0002	0.0024	0.0030	0.0080	0.0025	0.0044	0.0004	0.0020375	315	154602	rs201757499	0.0015	0.0015	0.0015	0.0015	0.0037	0.0014	0.0014	0.0032	0.0030	0.0002	0.0025	0.0008	0.0037	0.0075	0.0005	0.0012	0.0016	0.0005	0.0021	0.0021	0.0018	0.0024	0.0044	0.0019	0.0018	0.0030	0.0026	0.0002	0.0022	0.0013	0.0012	0.0044	0.0081	0	0.0025	0.0009	0.0004	0.001	0.78490	D	0.066	0.44501	T	0.343	0.33512	B	0.042	0.24114	B	0.000064	0.52346	D	0.200404	1	0.81001	D	2.225	0.63025	M	1.42	0.33189	T	-5.16	0.83422	D	0.659	0.66873	-1.0962	0.04583	T	0.103	0.37869	T	10	0.009299606	0.00210	T	0.01044	0.26980	T	0.186	0.46104	.	.	0.223474106383	0.21959	0.3333179740395619	0.33244	0.517787163206	0.49640	0.642088055611	0.58861	T	0.36564	0.73102	T	-0.334701	0.05763	T	-0.250383	0.49780	T	0.0530653392788842	0.06030	T	0.807219	0.47186	T	0.26872295	0.49944	0.3894369	0.63763	0.26872295	0.49944	0.3894369	0.63763	-5.034	0.45673	T	.	.	0.071	0.18247	B	.;.	.;.	3.358596	0.46356	22.3	0.99887622328356751	0.96204	0.97345	0.74163	D	AEFDGBHCI	0.656068	0.62819	D	0.384049344337946	0.60557	4.245968	0.497650586395608	0.67833	5.137401	1.0	0.98316	0.696267	0.57585	0	0.615948	0.52940	0	0.691665	0.62940	0	0.63947	0.58350	0	.	.	6.06	6.06	0.98340	1.997000	0.40406	4.202000	0.42475	-0.176000	0.10722	0.868000	0.30757	0.999000	0.35428	0.971000	0.54645	0.0:1.0:0.0:0.0	20.621	0.99492	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	1061.43	43	chr7	43456393	.	C	T	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.568;DP=402;ExcessHet=0;FS=2.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-0.188;SOR=0.449	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1045	9	0	1	0
chr7	43595984	43595984	A	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon2:c.A290G:p.K97R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0134554722007	0.0006	0.000399361	0.0003	0.0004	0.0004	0	0.0002	0.0004	0	0	0.0003299	51	154602	rs138232263	0.0005	0.0005	0.0005	0.0004	0.0006	0.0004	0.0004	0.0005	0.0005	0.0001	0.0004	3.827e-05	0	9.366e-05	0.0005	0.0006	0.0003	0	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0	0	0	0.0002	0	0.0006	0.0005	0	1.0	0.00964	T	0.66	0.06511	T	1.0	0.90584	D	1.0	0.97372	D	0.000122	0.49741	D	0.000000	0.999852	0.49910	D	1.52	0.38360	L	-0.16	0.65378	T	-0.01	0.07155	N	0.208	0.23125	-0.6569	0.62413	T	0.289	0.66084	T	10	0.088591844	0.15269	T	0.013455	0.32862	T	0.251	0.56024	.	.	0.772553812157	0.77047	0.3895243272622443	0.38867	0.702793909677	0.61229	0.715313792229	0.69364	T	0.006681	0.06107	T	-0.253209	0.13708	T	-0.256556	0.49168	T	0.0317641476484659	0.02268	T	.	.	.	0.12679279	0.29688	0.07829547	0.17522	0.12679279	0.29688	0.07829547	0.17522	-2.364	0.04917	T	.	.	0.114	0.22609	B	.	.	3.484478	0.48678	22.7	0.99395976803822483	0.62565	0.90509	0.51744	D	AEFDBIJ	0.507585	0.53782	D	0.406377508720091	0.61773	4.38297	0.424582666244862	0.63100	4.537252	0.999999997327164	0.74766	0.736574	0.97449	0	0.698795	0.70079	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	4.88	4.88	0.63131	2.438000	0.44495	5.900000	0.50875	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.492	0.67238	732	0.54084	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1314.43	34	chr7	43595984	.	A	G	1314.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.278;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.091;SOR=0.728	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1108	9	0	1	0
chr7	43596072	43596072	A	C	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon2:c.A378C:p.E126D	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0003	0.00858626	0.0031	9.632e-05	0.0041	0.0344	0	0.0003	0.0011	0.0008	0.0029301	453	154602	rs56286238	0.0015	0.0015	0.0015	0.0015	0.0414	0.0015	0.0015	0.0398	0.0391	0.0001	0.0031	0.0039	0.0414	0	0.0004	5.128e-05	0.0030	0.0013	0.0018	0.0018	0.0016	0.0019	0.0385	0.0016	0.0015	0.0342	0.0325	0.0002	0	0.0020	0.0040	0.0385	0	0	0.0001	0.0019	0.0008	0.49	0.07994	T	0.453	0.12848	T	0.817	0.45613	P	0.532	0.48601	P	0.000184	0.48115	D	0.000000	0.994045	0.42141	D	0.11	0.08516	N	1.23	0.36872	T	-2.15	0.48687	N	0.239	0.26957	-1.0659	0.10339	T	0.011	0.04088	T	10	0.0077467263	0.00176	T	.	.	.	0.133	0.36157	0.644	0.78117	0.552698843619	0.54927	0.5869716842468151	0.58627	0.250345542051	0.27606	0.523613572121	0.42134	T	0.023284	0.17802	T	-0.506017	0.00529	T	-0.456378	0.26995	T	0.0372486900723612	0.03200	T	.	.	.	0.17425236	0.38219	0.164596	0.38122	0.17425236	0.38218	0.164596	0.38121	-6.037	0.46588	T	.	.	0.226	0.45798	B	.	.	2.970005	0.39582	21.0	0.99533922102068229	0.70025	0.75997	0.37241	D	AEFDBI	0.167740	0.29444	N	-0.208291164233842	0.32794	1.853399	-0.0979637549577172	0.35475	2.052815	0.999898236868037	0.45129	0.736574	0.97449	0	0.698795	0.70079	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	4.88	2.56	0.29842	0.373000	0.20215	3.054000	0.36132	0.691000	0.84096	0.992000	0.37556	1.000000	0.68203	0.997000	0.79791	0.8654:0.0:0.1346:0.0	9.433	0.37787	732	0.54084	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.007576	0.05	948.43	34	chr7	43596072	.	A	C	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.202;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.185;SOR=0.778	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1108	9	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	376.29	108	chr7	43624718	.	C	G	376.29	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.305;DP=964;ExcessHet=4.5998;FS=280.433;InbreedingCoeff=-0.4254;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.14;SOR=10.021	GT:AD:DP:GQ:PL	0/0:62,16:78:60:0,60,1123	4	0	6	0
chr7	43878610	43878610	G	A	exonic	URGCP	.	nonsynonymous SNV	URGCP:NM_017920:exon5:c.C826T:p.P276S,URGCP:NM_001077663:exon6:c.C853T:p.P285S,URGCP:NM_001077664:exon6:c.C724T:p.P242S,URGCP:NM_001290075:exon6:c.C724T:p.P242S,URGCP:NM_001290076:exon7:c.C724T:p.P242S	.	.	.	.	.	.	.	.	.	.	.	3629333	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00594796369794	.	.	8.333e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs754964606	6.842e-06	6.84e-06	9.531e-06	4.126e-06	0.0002	3.46e-06	2.52e-06	7.712e-05	5.305e-05	0.0002	2.236e-05	0	0	0	0	0	4.968e-05	0	4.598e-05	4.596e-05	2.569e-05	6.722e-05	0.0002	2.109e-05	1.526e-05	7.889e-05	5.586e-05	0.0002	0	0	0	0	0	0	0	0	0	0.041	0.45393	D	0.025	0.56192	D	0.024	0.19075	B	0.028	0.21332	B	0.069881	0.21575	N	0.474164	0.733902	0.29802	N	1.83	0.48079	L	3.03	0.08986	T	-3.13	0.63901	D	0.137	0.19593	-1.1147	0.02696	T	0.026	0.11131	T	10	0.1281023	0.24366	T	0.005948	0.15520	T	0.033	0.08068	.	.	0.137902524267	0.13322	0.45937540702013735	0.45855	0.920550017077	0.71431	0.299716502428	0.10359	T	0.21693	0.57923	T	-0.422682	0.01645	T	-0.608261	0.12126	T	0.0913736695088608	0.11380	T	0.741926	0.36121	T	0.073170446	0.16330	0.123116575	0.29691	0.073170446	0.16330	0.123116575	0.29690	-5.275	0.39695	T	.	.	0.092	0.13644	B	.;.;.;.	.;.;.;.	1.808229	0.22980	15.84	0.99358344020749756	0.60904	0.86272	0.45520	D	AEFDBI	0.275908	0.39076	N	-0.12678103935778	0.36228	2.091308	0.00122991127160547	0.39772	2.363343	0.999987195282235	0.51787	0.566229	0.32551	0	0.653731	0.59785	0	0.679469	0.61720	0	0.662433	0.64102	0	.	.	5.52	3.69	0.41483	1.193000	0.31771	3.466000	0.38548	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0799:0.1414:0.7787:0.0	9.680	0.39232	769	0.49307	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1531.43	38	chr7	43878610	.	G	A	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=473;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-1.185;SOR=0.606	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr7	44539007	44539007	T	C	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.A1390G:p.N464D,NPC1L1:NM_001300967:exon2:c.A1390G:p.N464D,NPC1L1:NM_013389:exon2:c.A1390G:p.N464D	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.1055694662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.229	0.26306	T	0.634	0.40281	P	0.215	0.37512	B	0.000001	0.84330	D	0.054833	0.537351	0.32025	D	2.39	0.68882	M	-3.16	0.92996	D	-2.14	0.49684	N	0.374	0.43706	0.175	0.85489	D	0.663	0.88302	D	10	0.25123477	0.42461	T	0.105569	0.78074	D	0.282	0.59981	0.373	0.38503	0.892076201581	0.89100	0.6007070930439669	0.60001	0.174264859333	0.19618	0.511412739754	0.40420	T	0.171465	0.51960	T	-0.0580707	0.43208	T	-0.321191	0.42443	T	0.509793758392334	0.32989	D	0.793521	0.43550	T	0.19237274	0.40904	0.2144566	0.45997	0.19237274	0.40904	0.2144566	0.45996	-8.976	0.67542	D	.	.	0.17	0.45323	B	.;.;.;.	.;.;.;.	2.252221	0.28770	17.91	0.98969112706159623	0.49501	0.89000	0.49210	D	AEFDBI	0.567112	0.57283	D	-0.299422143427165	0.29171	1.615315	-0.220870239823937	0.30788	1.736609	0.999999878021047	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.07	3.89	0.44098	1.746000	0.37915	1.203000	0.24851	-0.154000	0.11915	0.980000	0.35271	0.994000	0.32194	0.846000	0.39970	0.0:0.0:0.1684:0.8316	10.160	0.42022	783	0.47268	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3432.14	138	chr7	44539007	.	T	C	3432.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.571;DP=576;ExcessHet=0.2348;FS=0.439;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.151;SOR=0.738	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	8	0	2	0
chr7	44539148	44539148	G	A	exonic	NPC1L1	.	nonsynonymous SNV	NPC1L1:NM_001101648:exon2:c.C1249T:p.R417W,NPC1L1:NM_001300967:exon2:c.C1249T:p.R417W,NPC1L1:NM_013389:exon2:c.C1249T:p.R417W	.	425	1089	8	0	0	8	0.00365965	.	.	.	3191555	NPC1L1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.600	0.146625606804	0.0012	0.000199681	0.0013	9.623e-05	0.0003	0	0.0003	0.0019	0.0011	0.0012	0.0011449	177	154602	rs139659653	0.0012	0.0012	0.0012	0.0013	0.0019	0.0012	0.0012	0.0011	0.0011	0.0001	0.0007	0.0118	0	0.0001	0.0019	0.0012	0.0015	0.0010	0.0010	0.0010	0.0010	0.0010	0.0015	0.0008	0.0008	0.0010	0.0009	0.0001	0	0.0005	0.0121	0.0002	9.427e-05	0	0.0012	0.0009	0.0015	0.104	0.46129	T	0.002	0.83351	D	0.999	0.77913	D	0.855	0.60933	P	0.000096	0.51296	D	0.125811	0.999984	0.19238	N	2.97	0.85306	M	-2.4	0.88455	D	-2.92	0.66325	D	0.549	0.58373	0.147	0.85004	D	0.761	0.91876	D	10	0.010629088	0.00236	T	0.146626	0.82873	D	0.600	0.84183	.	.	0.935226504704	0.93455	0.7446716218337328	0.74413	0.517787163206	0.49640	0.248774603009	0.03639	T	0.228255	0.59376	T	-0.0594518	0.42992	T	0.101292	0.76994	D	0.106556107136096	0.13063	T	0.931907	0.74605	D	0.114302084	0.26985	0.0862351	0.19965	0.114302084	0.26985	0.0862351	0.19965	-6.116	0.54070	T	.	.	0.132	0.37596	B	.;.;.;.	.;.;.;.	3.534790	0.49613	22.8	0.99787104343050581	0.87308	0.50755	0.28736	D	AEFDBI	0.493239	0.52954	N	0.0518067213206006	0.44226	2.700493	-0.0926892771035825	0.35691	2.067921	0.999990532074869	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	3.13	0.35090	0.417000	0.20934	2.594000	0.33484	0.676000	0.76740	0.000000	0.06391	0.239000	0.23838	0.995000	0.73285	0.0:0.0:0.6755:0.3245	11.552	0.49980	783	0.47268	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1329.43	41	chr7	44539148	.	G	A	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=448;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.852;SOR=0.909	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr7	44570813	44570813	C	T	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_019082:exon7:c.G955A:p.V319I	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0118273258257	0.0009	0.000599042	0.0012	0.0002	0.0006	0	0.0008	0.0013	0.0033	0.0025	0.0011319	175	154602	rs150431895	0.0013	0.0013	0.0012	0.0014	0.0042	0.0013	0.0013	0.0029	0.0024	0.0002	0.0008	3.827e-05	0	0.0005	0.0042	0.0014	0.0015	0.0023	0.0011	0.0011	0.0011	0.0012	0.0021	0.0010	0.0010	0.0016	0.0015	0.0003	0	0.0008	0.0003	0	0.0007	0.0068	0.0018	0.0028	0.0021	0.293	0.14843	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.022465	0.26628	N	0.442265	1	0.81001	D	0.425	0.12573	N	-0.98	0.75789	T	-0.37	0.13226	N	0.214	0.23884	-1.0120	0.26291	T	0.149	0.47575	T	10	0.008664697	0.00196	T	0.011827	0.29841	T	0.064	0.18567	.	.	0.486779940545	0.48312	0.46082239846636947	0.46000	0.114167019288	0.12873	0.351416319609	0.18130	T	0.11823	0.43889	T	-0.422443	0.01650	T	-0.385134	0.35121	T	0.0098091396241014	0.00129	T	0.60234	0.22547	T	0.01351587	0.00061	0.020818803	0.00157	0.01351587	0.00061	0.020818803	0.00157	-5.063	0.37516	T	.	.	0.075	0.05317	B	.	.	2.304970	0.29499	18.14	0.93196650841988415	0.22863	0.65503	0.32759	D	AEFBCI	0.067357	0.13238	N	-0.466900810593887	0.23171	1.242427	-0.279856340593549	0.28763	1.606199	0.99690119972145	0.35104	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.23	3.42	0.38259	1.419000	0.34400	2.197000	0.31255	0.596000	0.33519	0.957000	0.33433	1.000000	0.68203	0.970000	0.54328	0.1846:0.6231:0.0:0.1923	4.131	0.09618	799	0.44747	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.001359	0.002924	0.000000	0.000000	0.012195	0.000000	0.05	2434.43	34	chr7	44570813	.	C	T	2434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.855;DP=517;ExcessHet=0;FS=1.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.005;SOR=0.618	GT:AD:DP:GQ:PL	0/1:100,102:202:99:2446,0,2288	9	0	1	0
chr7	44571636	44571636	T	C	exonic	DDX56	.	nonsynonymous SNV	DDX56:NM_001257189:exon6:c.A746G:p.Y249C,DDX56:NM_019082:exon6:c.A746G:p.Y249C	.	430	1037	55	0	0	55	0.0258337	.	.	.	700085	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.250	.	0.0059	0.00978435	0.0095	0.0016	0.0022	0.0182	0.0033	0.0068	0.0099	0.0288	0.0090232	1395	154602	rs41279639	0.0090	0.0090	0.0083	0.0097	0.0303	0.0089	0.0088	0.0289	0.0283	0.0014	0.0017	0.0006	0.0303	0.0044	0.0243	0.0076	0.0085	0.0287	0.0062	0.0062	0.0060	0.0063	0.0286	0.0058	0.0057	0.0247	0.0232	0.0014	0.0011	0.0027	0.0003	0.0189	0.0039	0.0136	0.0080	0.0043	0.0286	0.039	0.42487	D	0.048	0.48594	D	0.751	0.43285	P	0.396	0.44364	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.915	0.23335	L	3.73	0.03982	T	-7.8	0.95924	D	0.614	0.63035	-0.8252	0.53607	T	0.005	0.01797	T	10	0.008875042	0.00201	T	.	.	.	0.250	0.55888	.	.	0.317084106153	0.31322	0.7164207853053588	0.71585	0.199772270355	0.22381	0.637889862061	0.58264	T	0.488993	0.81440	T	-0.252098	0.13842	T	-0.112585	0.62404	T	0.0423521330847552	0.04119	T	0.925407	0.84742	D	0.5848839	0.71874	0.57050467	0.75130	0.5848839	0.71875	0.57050467	0.75131	-5.711	0.43791	T	.	.	0.118	0.49186	B	.;.	.;.	2.974309	0.39654	21.0	0.99690544516304314	0.79909	0.88637	0.48659	D	AEFDBCI	0.584528	0.58331	D	0.136328287056016	0.48164	3.032313	0.271139031623838	0.53862	3.553123	0.999999999996311	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	3.660000	0.54234	5.069000	0.47160	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.737000	0.35335	0.0:0.0:0.0:1.0	14.121	0.64717	799	0.44747	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;.	.	.	.	.	rs41279639	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.006793	0.020468	0.000000	0.051724	0.009146	0.015152	0.05	1894.43	39	chr7	44571636	.	T	C	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.301;DP=539;ExcessHet=0;FS=5.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-2.736;SOR=1.036	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr7	44966149	44966149	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon16:c.G2081A:p.R694H	.	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	0.0391720357182	.	0.000199681	8.388e-06	0	0	0	0	0	0	6.121e-05	1.29e-05	2	154602	rs555267455	1.643e-05	1.847e-05	1.362e-05	1.926e-05	1.979e-05	1.112e-05	9.34e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	3.313e-05	0	1.314e-05	1.312e-05	2.571e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.538e-05	0	0	0	0	0	0	0.0002	0.007	0.59928	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.001313	0.39449	N	0.000000	1	0.81001	D	4.65	0.99371	H	-0.86	0.74477	T	-4.53	0.78388	D	0.738	0.73826	0.634	0.92343	D	0.682	0.89014	D	10	0.85239625	0.84423	D	0.039172	0.58658	D	0.838	0.94914	.	.	0.789728907447	0.78777	0.8652226791420855	0.86487	0.44856165249	0.44682	0.654122114182	0.60571	T	0.761021	0.93526	D	0.302728	0.83186	D	0.297701	0.88093	D	0.940769173617047	0.61339	D	0.994251	0.98100	D	0.74256366	0.80439	0.44272697	0.67513	0.74256366	0.80440	0.44272697	0.67513	-10.619	0.77528	D	.	.	0.196	0.51472	B	.;.	.;.	4.931471	0.81311	27.5	0.99958836196075562	0.99990	0.89588	0.50148	D	AEFDGBHCI	0.823147	0.74332	D	0.813490059049641	0.86942	9.050285	0.708180006915315	0.83000	7.908352	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.550215	0.18615	0	0.613276	0.41899	0	.	.	4.54	4.54	0.55220	4.877000	0.62779	5.918000	0.51122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:1.0:0.0:0.0	16.232	0.82169	716	0.55970	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1540.43	34	chr7	44966149	.	C	T	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.685;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.526;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	9	0	1	0
chr7	47303112	47303112	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon22:c.C3295T:p.P1099S	.	406	1082	32	2	0	36	0.0163636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	.	0.0002	0.00559105	0.0041	0.0002	0.0007	0.0002	0	0.0002	0.0034	0.0279	0.0035252	545	154602	rs185351500	0.0018	0.0018	0.0010	0.0026	0.0266	0.0017	0.0017	0.0257	0.0253	8.961e-05	0.0002	0.0003	2.519e-05	0	0.0035	0.0001	0.0019	0.0266	0.0010	0.0010	0.0007	0.0014	0.0236	0.0009	0.0008	0.0201	0.0188	7.211e-05	0.0088	0.0008	0.0003	0	0	0.0034	0.0002	0.0009	0.0236	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000019	0.62929	D	0.067253	0.999957	0.81001	D	3.255	0.89877	M	-3.75	0.99255	D	-6.19	0.90332	D	0.628	0.64223	1.119	0.99903	D	0.965	0.98873	D	10	0.011156976	0.00245	T	.	.	.	0.603	0.84345	.	.	0.855611554885	0.85421	0.5796115620834176	0.57890	.	.	0.673968195915	0.63403	T	0.556353	0.85070	D	-0.0311852	0.47243	T	0.203378	0.83311	D	0.126873841887387	0.15090	T	0.957104	0.83854	D	0.6748754	0.76694	0.68013376	0.81206	0.6748754	0.76695	0.68013376	0.81207	-10.997	0.79642	D	.	.	0.897	0.85441	P	.;.	.;.	4.398984	0.67958	25.2	0.99932033070223714	0.99439	0.96273	0.68337	D	AEFDBCI	0.922080	0.89653	D	0.754246687938273	0.83183	7.950563	0.777913695516357	0.88220	9.500883	0.999999999999638	0.74766	0.626454	0.40138	0	0.588066	0.40923	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.66	5.66	0.87293	9.375000	0.96582	11.521000	0.93046	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.237	0.86886	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.001359	0.002924	0.000000	0.000000	0.015244	0.011364	0.05	1910.43	34	chr7	47303112	.	G	A	1910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.603;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1208	9	0	1	0
chr7	47821092	47821092	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon46:c.C6949T:p.R2317W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	419	1088	14	1	0	16	0.00729927	.	.	.	722548	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0350360262237	0.0015	0.00199681	0.0018	0.0010	0.0004	0.0003	0.0003	0.0025	0.0089	0.0012	0.0019081	295	154602	rs139293796	0.0020	0.0021	0.0021	0.0020	0.0112	0.0020	0.0020	0.0090	0.0082	0.0009	0.0013	0.0055	2.526e-05	0.0003	0.0112	0.0022	0.0020	0.0012	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0015	0.0022	0.0021	0.0007	0	0.0015	0.0075	0.0002	0.0003	0.0034	0.0025	0.0028	0.0015	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	0.006778	0.31811	N	0.175773	1	0.08975	N	2.36	0.67893	M	1.94	0.22678	T	-5.19	0.83625	D	0.545	0.57177	-0.9950	0.31299	T	0.087	0.33634	T	10	0.012393147	0.00266	T	0.035036	0.56079	D	0.107	0.30369	.	.	0.745099471361	0.74281	0.5345255532974426	0.53377	0.497463811139	0.48245	0.279146969318	0.07374	T	0.529557	0.83695	D	-0.437267	0.01342	T	-0.399927	0.33392	T	0.0478573780622542	0.05117	T	0.713829	0.32570	T	0.23060572	0.45819	0.37620524	0.62748	0.23060572	0.45819	0.37620524	0.62747	-7.096	0.54732	T	0.7257097379071875	0.80711	0.163	0.36012	B	.	.	3.704734	0.52853	23.3	0.99729252329224871	0.82619	0.03367	0.08463	N	AEFI	0.069132	0.13670	N	-0.0249142248569835	0.40730	2.423826	-0.219562588434269	0.30835	1.739628	0.754834003598971	0.23417	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.27	1.05	0.19280	0.395000	0.20576	0.923000	0.22720	0.671000	0.69459	0.043000	0.21118	0.546000	0.25442	0.995000	0.73285	0.0:0.0:0.3124:0.6876	13.827	0.62852	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.014099	0.010101	0.027174	0.017544	0.000000	0.000000	0.009146	0.003788	0.05	861.43	34	chr7	47821092	.	G	A	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.664;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=2.04;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	9	0	1	0
chr7	47829595	47829595	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565T:p.L2189F	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00242358400914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.156	0.31833	T	0.325	0.33132	B	0.037	0.23121	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.67	0.42885	L	1.99	0.21666	T	-1.12	0.28906	N	0.071	0.04426	-1.0143	0.25561	T	0.032	0.13635	T	10	0.06819993	0.09611	T	0.002424	0.04757	T	0.011	0.01250	0.462	0.53079	0.0806252709748	0.07271	0.07619938893513355	0.07555	0.119333337301	0.13438	0.287016183138	0.08490	T	0.119498	0.44106	T	-0.313121	0.07477	T	-0.687553	0.06531	T	0.07061240769398	0.08737	T	0.506949	0.16072	T	0.03793613	0.04957	0.059033968	0.11012	0.03793613	0.04957	0.059033968	0.11011	-5.256	0.39506	T	0.3493390781858841	0.44665	0.093	0.14108	B	.	.	0.478457	0.08477	5.239	0.99599511188636891	0.74101	0.00455	0.02200	N	AEFDBI	0.023300	0.01279	N	-0.856956854539942	0.11880	0.5757883	-0.946628518479765	0.11002	0.5577856	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	104.16	139	chr7	47829595	.	G	A	104.16	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.103;DP=1031;ExcessHet=0;FS=113.804;InbreedingCoeff=-0.1373;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.25;ReadPosRankSum=0.014;SOR=9	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,13:88:99:.:.:114,0,1905:.	7	0	1	2
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	916.9	137	chr7	47829596	.	G	C	916.9	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.646;DP=1246;ExcessHet=22.563;FS=294.996;InbreedingCoeff=-0.914;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.475;SOR=11.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,5:88:99:.:.:114,194,2209:.	4	0	6	0
chr7	47853147	47853147	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon31:c.T4940C:p.I1647T	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	420	1065	36	1	0	38	0.0175277	.	.	YES	700108	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00307578698085	0.0024	0.00119808	0.0028	0.0006	0.0048	0.0001	0.0003	0.0031	0.0044	0.0038	0.0026132	404	154602	rs150396842	0.0025	0.0025	0.0025	0.0026	0.0269	0.0025	0.0024	0.0234	0.0221	0.0006	0.0032	0.0006	0	0.0002	0.0269	0.0025	0.0039	0.0039	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0009	0	9.413e-05	0.0374	0.0029	0.0028	0.0023	0.132	0.26519	T	0.13	0.34716	T	0.172	0.28767	B	0.025	0.20508	B	0.923955	0.07493	N	1.050930	1	0.08975	N	0.895	0.22405	L	1.9	0.23486	T	-2.15	0.48687	N	0.153	0.15749	-1.0059	0.28186	T	0.042	0.17910	T	10	0.0092950165	0.00210	T	0.003076	0.06636	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.2955123806695108	0.29464	0.12647757418	0.14255	0.317104578018	0.12981	T	0.060975	0.31530	T	-0.603463	0.00139	T	-0.637275	0.09869	T	0.00694634325530632	0.00079	T	0.363264	0.08416	T	0.08808688	0.20535	0.11958772	0.28864	0.08808688	0.20535	0.11958772	0.28863	-10.882	0.79007	D	0.19642316934644846	0.25944	0.365	0.57542	A	.	.	1.026868	0.14066	10.64	0.75558764966743985	0.11122	0.03166	0.08140	N	AEFI	0.043929	0.07004	N	-0.821283035922916	0.12767	0.6244539	-0.837001255752562	0.13600	0.7064044	0.244068471712208	0.18605	0.533608	0.22052	0	0.615948	0.52940	0	0.615948	0.41167	0	0.638833	0.57524	0	.	.	5.14	2.69	0.30923	0.979000	0.29098	1.846000	0.29223	0.756000	0.94297	0.001000	0.13787	0.001000	0.17328	0.613000	0.31716	0.8093:0.0:0.1907:0.0	6.861	0.23249	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015136	0.010204	0.016304	0.026316	0.000000	0.000000	0.018405	0.011364	0.05	797.43	33	chr7	47853147	.	A	G	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.61;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.655;SOR=0.762	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	9	0	1	0
chr7	47915452	47915452	A	G	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon8:c.T1208C:p.L403P	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	430	1070	20	2	0	24	0.0110906	.	.	.	700117	PKD1L1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0105	0.00479233	0.0075	0.0095	0.0057	0	0.0085	0.0095	0.0088	0.0026	0.0073738	1140	154602	rs146750610	0.0084	0.0084	0.0084	0.0083	0.0130	0.0082	0.0081	0.0103	0.0097	0.0094	0.0065	0.0054	0	0.0076	0.0130	0.0100	0.0084	0.0026	0.0092	0.0092	0.0098	0.0086	0.0112	0.0088	0.0087	0.0105	0.0102	0.0088	0	0.0088	0.0066	0	0.0079	0.0170	0.0112	0.0123	0.0015	0.325	0.13349	T	0.345	0.17750	T	0.659	0.40886	P	0.049	0.25116	B	0.000038	0.00348	U	54.428400	1	0.08975	N	-0.345	0.03330	N	1.65	0.27650	T	-1.03	0.27052	N	0.412	0.45237	-1.0398	0.17374	T	0.023	0.09787	T	9	0.0037185848	0.00069	T	.	.	.	0.162	0.41843	.	.	0.305730143919	0.30178	0.20323975704259653	0.20240	0.15169249651	0.17120	0.442275464535	0.30888	T	0.020967	0.16414	T	-0.596252	0.00154	T	-0.622429	0.10995	T	0.00942255087255087	0.00121	T	0.327867	0.06820	T	0.55444974	0.70202	0.3174846	0.57723	0.55444974	0.70204	0.3174846	0.57722	-5.172	0.38656	T	.	.	0.132	0.28464	B	.	.	0.650242	0.10185	6.928	0.79395962093093431	0.12722	0.00522	0.02430	N	AEFDBI	0.058155	0.10890	N	-0.966124456187936	0.09335	0.4413434	-1.09479251839727	0.07801	0.3809623	0.989391670831821	0.31812	0.569682	0.32691	0	0.563428	0.19063	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	0.633	0.633	0.16883	0.347000	0.19760	-0.905000	0.06976	0.562000	0.28470	0.237000	0.24716	0.000000	0.08366	0.232000	0.22788	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011399	0.015152	0.012228	0.010490	0.000000	0.008621	0.012195	0.000000	0.05	912.43	35	chr7	47915452	.	A	G	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.333;SOR=0.633	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,911	9	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	167.71	61	chr7	48103309	.	A	G	167.71	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.007;DP=721;ExcessHet=0.2348;FS=139.147;InbreedingCoeff=-0.1766;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.014;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1195:.	6	0	2	2
chr7	48279017	48279017	T	G	exonic	ABCA13	.	nonsynonymous SNV	ABCA13:NM_152701:exon18:c.T7823G:p.I2608R	.	425	1079	17	1	0	19	0.00872761	.	.	.	2828477	not_provided|ABCA13-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.100	0.00756563039803	0.0033	0.00119808	0.0025	0.0009	0.0032	0	0.0002	0.0037	0.0034	0.0006	0.0024515	379	154602	rs190991016	0.0030	0.0030	0.0031	0.0030	0.0075	0.0030	0.0029	0.0057	0.0051	0.0005	0.0033	0.0011	5.042e-05	0.0002	0.0075	0.0035	0.0031	0.0009	0.0026	0.0026	0.0029	0.0023	0.0050	0.0024	0.0023	0.0041	0.0038	0.0008	0	0.0050	0.0006	0	9.411e-05	0.0204	0.0040	0.0061	0.0004	0.001	0.78490	D	0.004	0.74150	D	.	.	.	.	.	.	0.262741	0.15282	N	0.575119	1	0.08975	N	.	.	.	0.21	0.59983	T	-2.19	0.49352	N	0.348	0.38950	-1.0226	0.22866	T	0.087	0.33802	T	10	0.0074211657	0.00169	T	0.007566	0.20086	T	0.100	0.28662	.	.	0.177238962908	0.17366	0.09392363294872028	0.09324	0.0348109853803	0.03667	0.273506522179	0.06602	T	.	.	.	-0.410171	0.01982	T	-0.361418	0.37888	T	0.0115028391802233	0.00173	T	0.341266	0.07400	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17317	B	.	.	-0.215539	0.03013	0.457	0.88337036275865932	0.17897	0.02144	0.06313	N	AEBI	0.047659	0.08047	N	-1.1531626714214	0.05728	0.2618921	-1.22524984876113	0.05506	0.2625626	0.0299179116472265	0.13913	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.93	-2.52	0.05978	-0.141000	0.10308	-0.216000	0.10808	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.15:0.2669:0.1549:0.4282	0.977	0.01339	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.000000	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1851.43	33	chr7	48279017	.	T	G	1851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=544;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.743;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	9	0	1	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:108,45:153:99:423,0,3097	1	0	7	2
chr7	50445796	50445796	A	G	exonic	FIGNL1	.	nonsynonymous SNV	FIGNL1:NM_001287495:exon2:c.T1492C:p.F498L,FIGNL1:NM_001287493:exon3:c.T1492C:p.F498L,FIGNL1:NM_001287494:exon3:c.T1492C:p.F498L,FIGNL1:NM_001042762:exon4:c.T1492C:p.F498L,FIGNL1:NM_001287492:exon4:c.T1492C:p.F498L,FIGNL1:NM_001287496:exon4:c.T1159C:p.F387L,FIGNL1:NM_001346561:exon4:c.T1492C:p.F498L,FIGNL1:NM_001346562:exon4:c.T1492C:p.F498L,FIGNL1:NM_001346564:exon4:c.T1492C:p.F498L,FIGNL1:NM_022116:exon4:c.T1492C:p.F498L,FIGNL1:NM_001346560:exon5:c.T1492C:p.F498L,FIGNL1:NM_001346563:exon5:c.T1492C:p.F498L,FIGNL1:NM_001346565:exon5:c.T1492C:p.F498L,FIGNL1:NM_001346558:exon6:c.T1159C:p.F387L,FIGNL1:NM_001346559:exon6:c.T1159C:p.F387L	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.252353918501	.	.	8.257e-06	0	0	0.0001	0	0	0	0	3.84e-05	1	26028	rs766417250	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.39	0.34934	L	-3.35	0.94022	D	-5.92	0.88963	D	0.773	0.78356	0.971	0.96720	D	0.889	0.96315	D	10	0.9669032	0.96191	D	0.252354	0.89169	D	0.863	0.95839	0.916	0.98422	0.990245638556	0.99013	0.7826265620725384	0.78213	0.174014622126	0.19591	0.915198326111	0.97937	D	0.640703	0.88978	D	0.444554	0.92234	D	0.400795	0.92138	D	0.998940050601959	0.95661	D	0.990658	0.97102	D	0.9549575	0.96769	0.94267124	0.97942	0.9549575	0.96769	0.94267124	0.97942	-13.174	0.90066	D	.	.	0.999	0.97850	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.168474	0.86628	29.0	0.9989825904059455	0.97048	0.99144	0.91875	D	AEGBI	0.926562	0.90785	D	0.924040584542827	0.92887	11.68914	0.915964990655774	0.96230	14.45097	0.999999999999983	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	6.17	6.17	0.99707	9.325000	0.96006	11.241000	0.90426	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.003	0.80122	768	0.49510	ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain;ATPase, AAA-type, core|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2263.43	37	chr7	50445796	.	A	G	2263.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.368;DP=614;ExcessHet=0;FS=3.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.315;SOR=0.984	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr7	50703832	50703832	G	A	exonic	GRB10	.	nonsynonymous SNV	GRB10:NM_001001549:exon2:c.C128T:p.A43V,GRB10:NM_001350814:exon5:c.C128T:p.A43V	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0358136293096	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989071667	7.534e-06	8.893e-06	5.452e-06	9.637e-06	0.0005	4.04e-06	2.96e-06	0.0001	7.555e-05	0	2.238e-05	0	5.046e-05	0	0.0005	2.701e-06	0	2.32e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.181	0.22053	T	0.243	0.24193	T	0.0	0.11197	B	0.0	0.06944	B	0.172424	0.03121	N	2.164360	1	0.08975	N	0.345	0.11182	N	-1.48	0.81150	T	-0.08	0.16799	N	0.126	0.14622	-0.9189	0.45702	T	0.231	0.59682	T	10	0.049536496	0.04557	T	0.035814	0.56592	D	0.227	0.52620	0.062	0.00241	0.724913443104	0.72248	.	.	0.0278653676021	0.02857	0.229387104511	0.01923	T	0.313913	0.68563	T	-0.185311	0.22950	T	-0.407109	0.32559	T	0.0257428409841047	0.01371	T	0.447355	0.18281	T	0.028877666	0.02293	0.030930405	0.01613	0.028877666	0.02293	0.030930405	0.01612	-3.845	0.21478	T	.	.	0.083	0.20469	B	.;.;.;.;.	.;.;.;.;.	0.928747	0.13039	9.543	0.90344720915837295	0.19609	0.06199	0.12184	N	AEFDBIJ	0.045541	0.07460	N	-1.24358668118679	0.04384	0.1977709	-1.24092598762049	0.05267	0.25054	0.999997169038354	0.74766	0.67177	0.52595	0	0.59043	0.45803	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.98	-0.0866	0.13015	0.013000	0.13206	-0.531000	0.08635	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1696:0.2929:0.3868:0.1508	1.966	0.03189	906	0.23090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1848.43	34	chr7	50703832	.	G	A	1848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.086;DP=544;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.557;SOR=0.751	GT:AD:DP:GQ:PL	0/1:87,81:168:99:1860,0,1954	9	0	1	0
chr7	51029262	51029262	G	A	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346442:exon10:c.C1834T:p.R612C,COBL:NM_001346443:exon10:c.C1834T:p.R612C,COBL:NM_015198:exon10:c.C1834T:p.R612C,COBL:NM_001287436:exon11:c.C2005T:p.R669C,COBL:NM_001346441:exon11:c.C2005T:p.R669C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0221303668082	.	.	8.316e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs778387480	5.485e-06	5.472e-06	2.727e-06	8.275e-06	3.001e-05	2.36e-06	1.71e-06	1.94e-06	1.28e-06	3.001e-05	2.252e-05	0	0	0	0	5.406e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.005	0.63226	D	0.011	0.67890	D	0.997	0.70673	D	0.424	0.51631	B	0.140267	0.02880	N	1.867390	1	0.08975	N	1.245	0.31408	L	1.81	0.25182	T	-2.76	0.58569	D	0.183	0.27197	-0.9919	0.32115	T	0.074	0.29992	T	10	0.14401627	0.27336	T	0.02213	0.44986	T	0.056	0.15993	0.405	0.43738	0.138757226776	0.13463	0.1989967773851411	0.19816	0.288925313761	0.31300	0.189640849829	0.00219	T	0.058592	0.62815	T	-0.204899	0.20102	T	-0.532099	0.19077	T	0.788608253002167	0.45598	D	0.814918	0.47377	T	0.11380952	0.26875	0.069925524	0.14794	0.11380952	0.26875	0.069925524	0.14794	-4.091	0.26490	T	.	.	0.126	0.26825	B	.;.;.;.	.;.;.;.	1.354197	0.17625	13.27	0.99744086099677964	0.83703	0.06529	0.12541	N	AEFDBHI	0.227375	0.35119	N	-0.421878873938008	0.24704	1.335788	-0.581723369684373	0.19970	1.073838	0.999943256566387	0.47345	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.7	0.657	0.17021	0.638000	0.24363	0.247000	0.16380	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0922:0.3544:0.5533	8.881	0.34535	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2710.43	35	chr7	51029262	.	G	A	2710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.11;DP=764;ExcessHet=0;FS=1.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.537;SOR=0.595	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1113	9	0	1	0
chr7	51136165	51136165	G	A	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001287436:exon6:c.C950T:p.S317L,COBL:NM_001287438:exon6:c.C950T:p.S317L,COBL:NM_001346441:exon6:c.C950T:p.S317L,COBL:NM_001346442:exon6:c.C950T:p.S317L,COBL:NM_001346443:exon6:c.C950T:p.S317L,COBL:NM_001346444:exon6:c.C950T:p.S317L,COBL:NM_015198:exon6:c.C950T:p.S317L	.	.	.	.	.	.	.	.	.	.	.	2760756	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0159398164582	.	0.000199681	8.419e-05	0	0.0005	0.0001	0	3.033e-05	0.0012	0	9.06e-05	14	154602	rs192731501	1.782e-05	1.915e-05	1.228e-05	2.343e-05	0.0002	1.24e-05	1.054e-05	7.742e-05	5.324e-05	0.0002	0.0002	0	2.519e-05	0	0	7.197e-06	0	4.654e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	0.0004	8.14e-06	5.14e-06	6.823e-05	2.855e-05	2.407e-05	0	6.541e-05	0	0.0004	0	0	0	0	0	0.005	0.63226	D	0.028	0.63109	D	0.995	0.68779	D	0.73	0.60107	P	0.043412	0.23741	N	0.214517	1	0.08975	N	2.175	0.60977	M	0.74	0.51474	T	-3.33	0.67359	D	0.225	0.27673	-0.7629	0.57248	T	0.247	0.61589	T	10	0.07155752	0.10565	T	0.01594	0.36945	T	0.138	0.37187	.	.	0.390292564088	0.38643	0.1396633802827375	0.13889	0.0913205535873	0.10314	0.471656054258	0.34908	T	0.068751	0.57286	T	-0.289444	0.09692	T	-0.368829	0.37025	T	0.417012135224819	0.29580	T	0.784422	0.48536	T	0.07901722	0.18028	0.12240281	0.29526	0.07901722	0.18027	0.12240281	0.29526	-3.048	0.54811	T	.	.	0.075	0.10111	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.433935	0.47740	22.5	0.9987174868973504	0.94902	0.05844	0.11787	N	AEFBI	0.095801	0.19350	N	0.166410464010366	0.49590	3.157843	0.0435289501251497	0.41760	2.514286	0.999870457749952	0.44625	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	1.148000	0.31226	2.929000	0.35606	0.676000	0.76740	0.021000	0.19753	0.985000	0.30750	0.973000	0.55318	0.0:0.1545:0.6857:0.1598	9.383	0.37487	830	0.39242	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2251.43	36	chr7	51136165	.	G	A	2251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=496;ExcessHet=0;FS=1.173;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.448;SOR=0.796	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1380	9	0	1	0
chr7	55152588	55152588	G	A	exonic	EGFR	.	nonsynonymous SNV	EGFR:NM_001346897:exon5:c.G536A:p.R179H,EGFR:NM_001346899:exon5:c.G536A:p.R179H,EGFR:NM_001346898:exon6:c.G671A:p.R224H,EGFR:NM_001346900:exon6:c.G512A:p.R171H,EGFR:NM_005228:exon6:c.G671A:p.R224H,EGFR:NM_201282:exon6:c.G671A:p.R224H,EGFR:NM_201283:exon6:c.G671A:p.R224H,EGFR:NM_201284:exon6:c.G671A:p.R224H	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	833665	Hereditary_cancer-predisposing_syndrome|EGFR-related_lung_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN130014	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0464735616129	.	.	5.829e-05	0	0	0	0	6.082e-05	0	0.0002	4.53e-05	7	154602	rs759106015	2.053e-05	2.121e-05	1.634e-05	2.476e-05	0.0002	1.456e-05	1.264e-05	7.123e-05	5.481e-05	0	0	0	0	0	0.0002	1.619e-05	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.129	0.56192	T	0.991	0.90584	D	0.829	0.77976	P	0.000002	0.62929	D	0.098646	0.99594	0.46701	D	1.915	0.51223	L	-0.02	0.62918	T	-1.09	0.30555	N	0.49	0.53445	-0.3251	0.74278	T	0.396	0.74836	T	10	0.46462157	0.59494	T	0.046474	0.62475	D	0.196	0.47777	0.598	0.72862	0.70270300816	0.70012	0.5241999765727162	0.52343	1.54032423807	0.87701	0.526009619236	0.42472	T	0.443514	0.87115	T	-0.161655	0.26506	T	-0.233314	0.51451	T	0.676087915897369	0.39611	D	0.952605	0.85096	D	0.5014509	0.67180	0.2179561	0.46481	0.5014509	0.67181	0.2179561	0.46480	-3.743	0.25892	T	0.15882935053039832	0.19272	0.142	0.37274	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.958466	0.81967	27.7	0.99948131899816983	0.99923	0.91275	0.53206	D	AEFDBI	0.529802	0.55076	D	0.616046071119135	0.74188	6.090574	0.616197070354043	0.76115	6.432054	0.999999483995998	0.74766	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.3	5.3	0.74745	4.414000	0.59555	8.369000	0.77044	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	17.508	0.87649	947	0.11584	Furin-like cysteine-rich domain;.;Furin-like cysteine-rich domain;.;.;Furin-like cysteine-rich domain;Furin-like cysteine-rich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1754.43	34	chr7	55152588	.	G	A	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=471;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.376;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1066	9	0	1	0
chr7	55170344	55170344	C	A	exonic	EGFR	.	nonsynonymous SNV	EGFR:NM_201284:exon16:c.C1918A:p.L640I	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, Autosomal recessive;Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	137772	not_specified	MedGen:CN169374	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.045	.	7.7e-05	0.00479233	0.0023	0	0	0	0	5.995e-05	0.0033	0.0165	0.002044	316	154602	rs140443314	0.0010	0.0010	0.0006	0.0014	0.0155	0.0009	0.0009	0.0148	0.0145	2.987e-05	0	0	0	0	0.0003	4.047e-05	0.0011	0.0155	0.0006	0.0006	0.0004	0.0008	0.0170	0.0005	0.0004	0.0140	0.0129	7.221e-05	0	0	0	0	0	0	4.41e-05	0.0005	0.0170	0.0	0.91255	D	0.085	0.41074	T	0.003	0.11197	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	-1.45	0.80899	T	0.46	0.03140	N	0.19	0.20793	-0.9562	0.39879	T	0.202	0.55822	T	9	0.0040607452	0.00079	T	.	.	.	0.045	0.12272	.	.	0.660808681621	0.65796	.	.	.	.	.	.	.	.	.	.	-0.492785	0.00628	T	-0.467654	0.25770	T	0.0528644290660819	0.05996	T	0.317468	0.06331	T	.	.	.	.	.	.	.	.	-4.304	0.28232	T	.	.	0.074	0.05274	B	.	.	0.627728	0.09959	6.718	0.9671195275431389	0.30814	0.02856	0.07618	N	AEFDBI	0.032448	0.03667	N	-1.15787368592074	0.05651	0.2581947	-1.19098643122914	0.06060	0.2905468	0.953866192536632	0.28098	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.631631	0.49550	0	.	.	2.7	0.736	0.17456	0.328000	0.19425	-0.056000	0.12484	0.580000	0.29708	0.052000	0.21487	0.000000	0.08366	0.134000	0.19723	0.2439:0.6123:0.0:0.1438	3.503	0.07239	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1045.43	34	chr7	55170344	.	C	A	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.754;DP=417;ExcessHet=0;FS=5.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.547;SOR=1.292	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1286	9	0	1	0
chr7	55472872	55472872	C	T	exonic	VOPP1	.	nonsynonymous SNV	VOPP1:NM_001321246:exon4:c.G424A:p.V142I,VOPP1:NM_001321247:exon4:c.G308A:p.G103D,VOPP1:NM_001321248:exon4:c.G313A:p.V105I,VOPP1:NM_001284282:exon5:c.G451A:p.V151I,VOPP1:NM_001284283:exon5:c.G493A:p.V165I,VOPP1:NM_001284284:exon5:c.G475A:p.V159I,VOPP1:NM_001321242:exon5:c.G521A:p.G174D,VOPP1:NM_001321249:exon5:c.G389A:p.G130D,VOPP1:NM_001321250:exon5:c.G389A:p.G130D,VOPP1:NM_001321251:exon5:c.G389A:p.G130D,VOPP1:NM_030796:exon5:c.G502A:p.V168I,VOPP1:NM_001321243:exon6:c.G428A:p.G143D,VOPP1:NM_001321244:exon6:c.G496A:p.V166I	.	348	1164	10	0	0	10	0.00427716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00611534382965	.	.	0.0019	0	0	0	0	0.0027	0	0.0020	0.0001921	5	26028	rs753017721	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0088	0.0079	0.0005	0.0014	0.0006	0	0	0.0113	0.0007	0.0013	0.0005	0.0007	0.0008	0.0008	0.0006	0.0015	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0015	0	0	0	0.0172	0.0009	0.0021	0.0005	0.11	0.29158	T	0.082	0.43913	T	0.975	0.58077	D	0.761	0.56482	P	.	.	.	.	0.944262	0.37442	D	1.04	0.26193	L	.	.	.	-0.5	0.20791	N	0.421	0.57433	-0.5813	0.65566	T	0.229	0.59434	T	8	0.02328536	0.00605	T	0.006115	0.15993	T	0.117	0.32689	.	.	0.352262096564	0.34836	0.314835483097391	0.31396	0.699190003716	0.61010	0.651013791561	0.60129	T	0.014112	0.12078	T	-0.341102	0.05312	T	-0.270009	0.47818	T	0.0497159107662204	0.05450	T	0.886711	0.61387	D	0.08660421	0.20136	0.1043666	0.25064	0.08660421	0.20136	0.1043666	0.25063	-7.013	0.57793	T	.	.	0.219	0.45726	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.067616	0.60414	24.2	0.99855892711894434	0.93458	0.95972	0.66957	D	AEFDGBI	0.529795	0.55076	D	0.553094033045629	0.70272	5.477097	0.60525913816113	0.75320	6.289914	0.999999938675794	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	5.326000	0.65654	7.594000	0.61341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.846	0.85844	805	0.43675	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007937	0.000000	0.008596	0.017699	0.000000	0.017857	0.003676	0.004132	0.05	427.43	34	chr7	55472872	.	C	T	427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=219;ExcessHet=0;FS=3.554;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=38.37;MQRankSum=-0.735;QD=12.57;ReadPosRankSum=0.226;SOR=0.132	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,629	9	0	1	0
chr7	56101805	56101805	-	A	exonic	CHCHD2	.	stoploss	CHCHD2:NM_001320327:exon4:c.505dupT:p.*169delinsLS*	Parkinson disease 22, autosomal dominant	.	.	.	.	.	.	.	.	.	.	1268040	not_provided|CHCHD2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0007	0.0103834	0.0108	0.0012	0.1099	0	0	0.0002	0.0077	6.061e-05	0.0029584	77	26028	rs35957514	0.0031	0.0032	0.0037	0.0026	0.0982	0.0030	0.0030	0.0957	0.0947	0.0008	0.0982	0	2.536e-05	0	0	2.709e-05	0.0030	4.78e-05	0.0074	0.0075	0.0067	0.0082	0.0688	0.0071	0.0069	0.0654	0.0640	0.0012	0	0.0688	0	0	0	0	5.88e-05	0.0118	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1536.1	52	chr7	56101805	.	T	TA	1536.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.032;DP=329;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.53;MQRankSum=2.17;QD=15.21;ReadPosRankSum=0.101;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	8	0	2	0
chr7	56116202	56116202	C	A	exonic	NUPR2	.	nonsynonymous SNV	NUPR2:NM_001145712:exon1:c.G113T:p.R38L	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00119808	0.0044	0.0023	0	0	0	0.0091	0.0064	0.0017	0.0016753	259	154602	rs190448728	0.0082	0.0078	0.0084	0.0079	0.0098	0.0080	0.0080	0.0097	0.0096	0.0017	0.0021	0.0018	2.815e-05	0.0039	0.0021	0.0098	0.0051	0.0014	0.0048	0.0048	0.0054	0.0042	0.0090	0.0045	0.0044	0.0084	0.0081	0.0013	0	0.0023	0.0026	0	0.0014	0	0.0090	0.0038	0.0010	0.343	0.12592	T	0.545	0.09588	T	1.0	0.90584	D	0.96	0.70309	D	.	.	.	.	0.623578	0.32727	D	.	.	.	.	.	.	-2.82	0.59545	D	0.467	0.50327	.	.	.	.	.	.	.	0.009500712	0.00214	T	.	.	.	.	.	.	.	0.60087810649	0.59769	0.1956522200160719	0.19482	.	.	0.907131195068	0.97192	D	0.114603	0.43254	T	-0.219574	0.18050	T	-0.0787847	0.64994	T	.	.	.	0.576842	0.20728	T	0.17326596	0.38065	0.26726955	0.52582	0.17326596	0.38065	0.26726955	0.52581	-3.201	0.12493	T	.	.	0.404	0.59793	A	.	.	3.137486	0.42422	21.5	0.95203177310114451	0.26401	0.83451	0.42567	D	AEFDBI	0.197129	0.32407	N	.	.	.	.	.	.	0.999643754257214	0.41316	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	3.43	3.43	0.38372	1.400000	0.34186	.	.	0.385000	0.20450	0.998000	0.41325	0.984000	0.30665	0.979000	0.57723	0.0:1.0:0.0:0.0	10.528	0.44148	625	0.65529	.	.	.	.	.	rs190448728	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	928.43	35	chr7	56116202	.	C	A	928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.537;DP=402;ExcessHet=0;FS=1.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.193;SOR=1.002	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	9	0	1	0
chr7	64078463	64078463	A	T	exonic	ZNF727	.	stopgain	ZNF727:NM_001159522:exon4:c.A1414T:p.R472X	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999932	0.51612	D	.	.	.	.	.	.	.	.	.	0.031	0.00770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456954	0.92789	D	0.418607	0.92700	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.667474	0.92916	33	0.95347844531515613	0.26729	0.00103	0.00666	N	AEFBHCI	0.064439	0.12512	N	-0.00530434970096422	0.41614	2.492309	-0.461325695880393	0.23228	1.26565	9.62209856998073E-4	0.08067	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.926	0.926	0.18556	-0.251000	0.08837	.	.	0.341000	0.19778	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	5.771	0.17519	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	905.43	91	chr7	64078463	.	A	T	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.89;DP=551;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.842;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800:.	9	0	1	0
chr7	64078464	64078464	G	T	exonic	ZNF727	.	nonsynonymous SNV	ZNF727:NM_001159522:exon4:c.G1415T:p.R472I	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.017469610845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.29249	T	0.973	0.57599	D	0.876	0.62173	P	.	.	.	.	0.924233	0.36769	D	2.3	0.65703	M	.	.	.	.	.	.	0.117	0.10626	-1.0173	0.24592	T	0.032	0.13679	T	8	0.20492783	0.36702	T	0.01747	0.39181	T	.	.	0.621	0.75576	0.176091768786	0.17195	0.03263319282563257	0.03211	.	.	0.314275026321	0.12553	T	0.007609	0.07006	T	-0.193321	0.21772	T	-0.515468	0.20754	T	0.180266439914703	0.19251	T	0.765223	0.39255	T	0.09248996	0.21700	0.13621166	0.32593	0.09248996	0.21699	0.13621166	0.32592	-6.238	0.48229	T	.	.	0.152	0.33573	B	.	.	0.563009	0.09313	6.097	0.59393996737561983	0.06214	0.00227	0.01275	N	AEFBHCI	0.166413	0.29300	N	-0.510347623020504	0.21745	1.156234	-0.761661785105369	0.15437	0.8118263	0.318357139242925	0.19358	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.926	0.926	0.18556	-1.168000	0.03233	.	.	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	7.382	0.26035	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	905.43	91	chr7	64078464	.	G	T	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.088;DP=550;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.977;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800:.	9	0	1	0
chr7	64992996	64992996	A	C	exonic	ERV3-1	.	nonsynonymous SNV	ERV3-1:NM_001007253:exon2:c.T31G:p.L11V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000984474467157	.	0.000199681	2.652e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs527371085	2.777e-05	2.704e-05	1.799e-05	3.589e-05	7.17e-05	1.691e-05	1.382e-05	2.794e-05	1.82e-05	0	0	0	0	0	0	3.442e-05	0	7.17e-05	1.969e-05	1.968e-05	2.57e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.02	0.49613	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	0.345	0.11182	N	2.33	0.16492	T	0.06	0.06253	N	0.18	0.19459	-0.9878	0.33151	T	0.022	0.09375	T	6	0.05550751	0.06079	T	9.84E-4	0.01026	T	0.014	0.01968	0.262	0.20631	0.136095386433	0.13204	0.6911040604638751	0.69050	0.0420829138621	0.04528	0.471637248993	0.34906	T	0.005711	0.05159	T	-0.450059	0.01128	T	-0.680655	0.06944	T	0.0438547060750389	0.04393	T	0.319968	0.06445	T	0.099253245	0.23422	0.11338119	0.27364	0.099253245	0.23421	0.11338119	0.27363	-4.273	0.27797	T	.	.	0.075	0.05579	B	.	.	1.454328	0.18756	13.91	0.97522736598427318	0.34411	0.05824	0.11764	N	AEFBI	0.051509	0.09106	N	-0.529714025328983	0.21124	1.118759	-0.606381924380972	0.19329	1.036536	0.880471116222338	0.25608	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	0.109	0.109	0.13884	0.228000	0.17594	.	.	0.260000	0.18395	0.833000	0.30177	0.918000	0.28264	0.879000	0.42020	.	.	.	712	0.56465	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	879.43	42	chr7	64992996	.	A	C	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.482;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-1.106;SOR=0.73	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr7	72863913	72863913	C	T	exonic	SPDYE7P	.	nonsynonymous SNV	SPDYE7P:NM_001382704:exon7:c.G740A:p.R247H	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402952361	0.0004	0.0005	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0041	0	0	0.0002	0.0021	3.772e-05	0.0002	3.598e-05	0.0004	0.0046	0.0005	0.0005	0.0003	0.0006	0.0083	0.0004	0.0003	0.0063	0.0055	0	0	0.0001	0.0012	0.0033	0	0	8.819e-05	0	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	771.43	34	chr7	72863913	.	C	T	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=348;ExcessHet=0;FS=4.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.56;MQRankSum=-4.575;QD=20.85;ReadPosRankSum=1.28;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,913:.	9	0	1	0
chr7	73303989	73303989	G	C	exonic	NSUN5	.	nonsynonymous SNV	NSUN5:NM_001168347:exon8:c.C982G:p.P328A,NSUN5:NM_001168348:exon8:c.C868G:p.P290A,NSUN5:NM_018044:exon8:c.C982G:p.P328A,NSUN5:NM_148956:exon8:c.C982G:p.P328A	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00235833809192	0.0009	0.000399361	0.0020	9.745e-05	0.0006	0	0.0006	0.0034	0.0011	0	0.001837	284	154602	rs144929830	0.0017	0.0017	0.0016	0.0017	0.0020	0.0016	0.0016	0.0019	0.0019	0.0003	0.0009	0.0011	0	0.0009	0.0017	0.0020	0.0014	4.638e-05	0.0013	0.0013	0.0013	0.0013	0.0022	0.0011	0.0011	0.0020	0.0018	0.0003	0	0.0013	0.0009	0	0.0004	0.0034	0.0022	0.0024	0	0.71	0.05918	T	0.675	0.07946	T	0.0	0.02946	B	0.004	0.10090	B	0.329494	0.04122	N	1.377030	0.999998	0.08975	N	-0.18	0.04256	N	1.83	0.24841	T	-0.68	0.19509	N	0.085	0.10198	-0.9950	0.31299	T	0.043	0.18618	T	10	0.003260672	0.00056	T	0.002358	0.04590	T	0.027	0.05988	.	.	0.232513804876	0.22884	0.16056823750010776	0.15977	0.22100470736	0.24648	0.415536344051	0.27222	T	0.004994	0.04418	T	-0.642687	0.00080	T	-0.699316	0.05864	T	0.00341751509239633	0.00036	T	0.626337	0.24237	T	0.024873039	0.01363	0.0418132	0.04836	0.024873039	0.01363	0.0418132	0.04836	-4.218	0.27011	T	.	.	0.048	0.00114	B	.;.;.;.	.;.;.;.	-0.488892	0.01902	0.158	0.68365295328731246	0.08636	0.19435	0.20659	N	AEFBCI	0.114001	0.22472	N	-1.35826345017663	0.03041	0.1351902	-1.40417150418142	0.03209	0.1492654	0.332306089013995	0.19498	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.668105	0.65232	0	.	.	4.4	-3.88	0.03927	-0.154000	0.10116	0.937000	0.22823	-0.458000	0.05121	0.004000	0.16614	0.893000	0.27858	0.002000	0.04165	0.0:0.0865:0.7413:0.1722	13.201	0.59189	888	0.27761	.;SAM-dependent methyltransferase RsmB/NOP2-type|SAM-dependent methyltransferase RsmB/NOP2-type;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1129.43	39	chr7	73303989	.	G	C	1129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.909;DP=474;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.5;MQRankSum=-1.219;QD=11.29;ReadPosRankSum=-0.131;SOR=0.493	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr7	73553638	73553638	A	C	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.T35G:p.V12G	.	532	983	5	2	0	9	0.00455696	.	.	.	2825746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0041878	109	26028	rs150783798	0.0173	0.0003	0.0182	0.0166	0.0234	0.0128	0.0112	0.0168	0.0146	0	.	.	.	0.0048	0.0234	0	0.0077	0.0156	0.0038	0.0038	0.0040	0.0037	0.0098	0.0036	0.0035	0.0076	0.0068	0.0010	0	0.0050	0.0110	0	0.0007	0.0238	0.0051	0.0085	0.0098	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	.	.	.	.	.	.	.	0.005997807	0.00135	T	.	.	.	.	.	.	.	0.259504319725	0.25562	0.14090083166857592	0.14013	.	.	.	.	.	0.394278	0.75346	T	-0.831954	0.00004	T	-0.965487	0.00217	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32005	B	.	.	0.464521	0.08344	5.092	0.63466116940903872	0.07231	0.00546	0.02508	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0869984702313369	0.16023	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.376000	0.20265	0.844000	0.22071	0.539000	0.25131	0.006000	0.17386	0.004000	0.18990	0.010000	0.09038	.	.	.	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	167.49	20	chr7	73553638	.	A	C	167.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=133;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=-0.231;SOR=2.303	GT:AD:DP:GQ:PL	0/1:4,5:9:99:179,0,135	9	0	1	0
chr7	73769649	73769649	G	A	exonic	CLDN3	.	nonsynonymous SNV	CLDN3:NM_001306:exon1:c.C401T:p.P134L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.338304977053	0.0048	0.000998403	0.0045	0.0026	0.0012	0	0.0032	0.0070	0.0013	0.0014	0.0043725	676	154602	rs139191328	0.0080	0.0080	0.0082	0.0078	0.0098	0.0079	0.0078	0.0097	0.0096	0.0013	0.0013	0.0007	0	0.0027	0.0023	0.0098	0.0062	0.0014	0.0050	0.0050	0.0051	0.0049	0.0077	0.0047	0.0046	0.0072	0.0070	0.0019	0.0713	0.0028	0.0023	0	0.0024	0	0.0077	0.0033	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.08	0.97210	H	-2.39	0.88377	D	-9.39	0.98373	D	0.915	0.91736	0.889	0.95529	D	0.851	0.95042	D	10	0.09829411	0.17763	T	0.338305	0.91944	D	0.833	0.94728	.	.	0.944473789665	0.94389	0.9524202634382367	0.95226	1.64967642936	0.89525	0.691883206367	0.65977	T	0.826813	0.95824	D	0.163458	0.70520	D	0.469553	0.93993	D	0.185592541352923	0.19581	T	0.987501	0.95747	D	0.9028038	0.91635	0.7814793	0.87120	0.9028038	0.91636	0.7814793	0.87121	-9.618	0.71591	D	.	.	0.939	0.85832	P	.	.	5.725103	0.93246	33	0.99879466011080964	0.95572	0.97722	0.76661	D	AEFDBHCI	0.922051	0.89645	D	1.03857273250529	0.96812	15.17798	0.925562101245292	0.96593	14.89019	0.999999999999932	0.74766	0.72623	0.87236	0	0.59043	0.45803	0	0.594344	0.31042	0	0.63947	0.58350	0	.	.	4.94	4.94	0.64645	9.942000	0.98926	9.855000	0.82016	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	15.671	0.77029	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.005102	0.001359	0.002924	0.000000	0.008621	0.000000	0.007576	0.05	1267.43	36	chr7	73769649	.	G	A	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.57;DP=452;ExcessHet=0;FS=1.401;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-0.157;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	9	0	1	0
chr7	73769988	73769988	A	G	exonic	CLDN3	.	nonsynonymous SNV	CLDN3:NM_001306:exon1:c.T62C:p.I21T	.	431	1067	23	1	0	25	0.0115794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.340119394773	0.0024	0.000599042	0.0028	0.0005	0.0019	0	0.0012	0.0041	0.0066	0.0014	0.0022703	351	154602	rs113016282	0.0020	0.0020	0.0021	0.0020	0.0158	0.0020	0.0020	0.0131	0.0121	0.0007	0.0020	0.0154	0	0.0005	0.0158	0.0018	0.0039	0.0013	0.0019	0.0019	0.0020	0.0017	0.0029	0.0017	0.0016	0.0023	0.0020	0.0004	0	0.0029	0.0185	0	0.0004	0.0136	0.0021	0.0024	0.0010	0.001	0.78490	D	0.004	0.74150	D	0.991	0.64070	D	0.97	0.72226	D	0.000459	0.44317	D	0.187626	0.858781	0.35350	D	2.715	0.79425	M	-2.61	0.89953	D	-4.13	0.75139	D	0.729	0.73015	0.682	0.92956	D	0.768	0.92101	D	10	0.012958348	0.00276	T	0.340119	0.91992	D	0.518	0.79461	.	.	0.872881601446	0.87164	0.8183121460000667	0.81788	1.81973249962	0.91917	0.692968964577	0.66132	T	0.634574	0.88717	D	-0.182573	0.23353	T	-0.0402671	0.67683	D	0.0434138198746558	0.04313	T	0.954805	0.82790	D	0.5379085	0.69279	0.52494216	0.72553	0.5379085	0.69280	0.52494216	0.72554	-7.243	0.55789	T	.	.	0.515	0.65239	A	.	.	4.951434	0.81797	27.6	0.99718081088523025	0.81843	0.97420	0.74637	D	AEFDBHCI	0.882172	0.81008	D	0.62522875360619	0.74775	6.190228	0.552416265015049	0.71566	5.674335	0.999999999871556	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.504199	0.09095	0	0.618803	0.45993	0	.	.	4.95	3.8	0.42887	9.223000	0.94355	9.269000	0.79621	0.653000	0.53440	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.9074:0.0:0.0926:0.0	8.626	0.33052	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021169	0.005051	0.028533	0.029240	0.000000	0.008621	0.024540	0.007576	0.05	2211.43	174	chr7	73769988	.	A	G	2211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.913;DP=501;ExcessHet=0;FS=3.499;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.614;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1240	9	0	1	0
chr7	73834825	73834825	G	A	exonic	METTL27	.	nonsynonymous SNV	METTL27:NM_152559:exon6:c.C656T:p.P219L	.	409	1096	16	1	0	18	0.0081448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0124194452689	0.0015	0.000199681	0.0017	0.0002	0.0008	0.0001	0.0009	0.0026	0.0045	0.0012	0.0015847	245	154602	rs141298816	0.0015	0.0015	0.0015	0.0014	0.0113	0.0014	0.0014	0.0091	0.0083	0.0006	0.0010	0.0092	5.038e-05	0.0003	0.0113	0.0014	0.0027	0.0010	0.0011	0.0011	0.0012	0.0009	0.0013	0.0009	0.0009	0.0010	0.0010	0.0002	0	0.0013	0.0095	0	0.0002	0.0068	0.0013	0.0019	0.0010	0.898	0.02436	T	1.0	0.01155	T	0.007	0.14184	B	0.002	0.06944	B	0.031227	0.01733	N	2.414770	1	0.08975	N	.	.	.	0.35	0.58029	T	0.93	0.01551	N	0.033	0.00882	-1.0776	0.07821	T	0.070	0.28412	T	10	0.0039233267	0.00075	T	0.012419	0.30977	T	0.019	0.03383	.	.	0.0611884634855	0.05136	0.4536783851468046	0.45285	0.12256426211	0.13811	0.331509172916	0.15162	T	4.8E-4	0.00176	T	-0.638452	0.00085	T	-0.703098	0.05659	T	0.00296961541242298	0.00031	T	0.278472	0.04815	T	0.022284659	0.00881	0.02799418	0.00997	0.022284659	0.00880	0.02799418	0.00996	-4.004	0.23864	T	.	.	0.074	0.05060	B	.	.	-0.813875	0.01079	0.048	0.84198002121136706	0.15153	0.00981	0.03737	N	AEFDBHI	0.050429	0.08812	N	-1.58592246858239	0.01336	0.05821189	-1.67700321658116	0.01242	0.05598409	0.999971115554335	0.50053	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.76	-6.87	0.01511	-2.497000	0.01046	-1.303000	0.05769	-1.731000	0.00715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4394:0.2366:0.2045:0.1194	1.813	0.02907	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.023098	0.023392	0.000000	0.034483	0.024390	0.007576	0.05	1368.43	112	chr7	73834825	.	G	A	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=445;ExcessHet=0;FS=5.858;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.088;SOR=0.905	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,114,1470	9	0	1	0
chr7	74238987	74238987	G	A	exonic	RFC2	.	nonsynonymous SNV	RFC2:NM_001278792:exon7:c.C386T:p.A129V,RFC2:NM_001278793:exon7:c.C290T:p.A97V,RFC2:NM_002914:exon7:c.C593T:p.A198V,RFC2:NM_001278791:exon8:c.C392T:p.A131V,RFC2:NM_181471:exon8:c.C695T:p.A232V	.	424	1082	16	0	0	16	0.00733945	0.9777	0.756	.	736256	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.403	.	0.0011	0.00239617	0.0018	0.0004	0.0011	0	0	0.0012	0.0033	0.0071	0.0017917	277	154602	rs3135684	0.0014	0.0014	0.0012	0.0016	0.0069	0.0013	0.0013	0.0064	0.0063	0.0003	0.0014	0.0037	2.52e-05	5.617e-05	0.0026	0.0010	0.0015	0.0069	0.0010	0.0010	0.0010	0.0009	0.0070	0.0009	0.0008	0.0052	0.0045	0.0003	0	0.0014	0.0023	0.0002	0	0	0.0010	0.0024	0.0070	0.044	0.42783	D	0.028	0.57104	D	0.931	0.51899	P	0.534	0.48679	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	0.77	0.49642	T	-3.94	0.73378	D	0.834	0.89242	-0.5659	0.66177	T	0.223	0.58716	T	10	0.018195033	0.00394	T	.	.	.	0.403	0.71636	.	.	0.825532700321	0.82388	0.8477203140357716	0.84733	0.583404679572	0.54052	0.747924089432	0.74140	T	0.194572	0.82435	T	-0.0842406	0.39022	T	0.109525	0.77543	D	0.0416452273646546	0.03989	T	0.932007	0.74652	D	0.7331378	0.79901	0.36640725	0.61970	0.7331378	0.79903	0.36640725	0.61970	-8.783	0.66289	D	.	.	0.838	0.80746	P	.;.;.	.;.;.	5.125572	0.85752	28.7	0.99835868848221943	0.91714	0.99460	0.96305	D	AEFGBI	0.919270	0.88955	D	0.627603835969429	0.74926	6.217	0.630138568989722	0.77141	6.622171	0.999999999952308	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	9.686000	0.97923	9.873000	0.82142	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.410000	0.27006	0.0:0.0:1.0:0.0	17.332	0.87157	889	0.27310	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1341.43	33	chr7	74238987	.	G	A	1341.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.484;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.28;SOR=0.671	GT:AD:DP:GQ:PL	0/1:74,58:132:99:1353,0,1761	9	0	1	0
chr7	74338771	74338771	C	A	exonic	CLIP2	.	nonsynonymous SNV	CLIP2:NM_003388:exon3:c.C445A:p.P149T,CLIP2:NM_032421:exon3:c.C445A:p.P149T	.	427	1091	4	0	0	4	0.00182983	.	.	.	2197426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0651675158677	0.0004	.	0.0004	0	0.0003	0	0	0.0005	0	0.0003	0.0002135	33	154602	rs200574175	0.0002	0.0002	0.0002	0.0002	0.0061	0.0002	0.0002	0.0045	0.0040	8.974e-05	0.0001	0.0046	0	0	0.0061	0.0001	0.0004	8.154e-05	0.0001	0.0001	0.0002	0.0001	0.0003	9.739e-05	8.254e-05	8.875e-05	5.285e-05	2.405e-05	0	0.0003	0.0026	0	0	0.0068	5.88e-05	0.0009	0	0.27	0.16038	T	0.085	0.41074	T	0.934	0.52202	P	0.71	0.54502	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	-0.83	0.74159	T	-3.2	0.64710	D	0.185	0.20129	-0.3355	0.73974	T	0.347	0.71202	T	10	0.013994783	0.00295	T	0.065168	0.69499	D	0.284	0.60219	.	.	0.413198161389	0.40934	0.6234890799690306	0.62281	1.47436501336	0.86588	0.708914220333	0.68437	T	0.572191	0.85853	D	-0.192987	0.21821	T	-0.250561	0.49761	T	0.124078296124935	0.14824	T	0.885211	0.61727	D	0.47028252	0.65307	0.31652844	0.57632	0.47028252	0.65308	0.31652844	0.57632	-6.507	0.51410	T	.	.	0.176	0.38409	B	.;.;.	.;.;.	3.766952	0.54085	23.4	0.99777561400277226	0.86433	0.86005	0.45208	D	AEFDBCI	0.415450	0.48431	N	0.341104637175375	0.58271	3.998451	0.399528847331914	0.61537	4.35505	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	2.429000	0.44415	4.710000	0.44452	0.520000	0.23804	0.958000	0.33488	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	16.694	0.85187	911	0.21964	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005550	0.005102	0.006793	0.008772	0.000000	0.017241	0.000000	0.000000	0.05	1474.43	71	chr7	74338771	.	C	A	1474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.382;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-1.236;SOR=0.748	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr7	75422156	75422156	G	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon13:c.C2096T:p.P699L	.	432	1081	9	0	0	9	0.00414556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	.	.	0.0236	0.1553	0.0160	0.0705	0.0013	0.0031	0.0055	0.0054	0.0051164	791	154602	rs111245070	0.0014	0.0024	0.0014	0.0015	0.0040	0.0014	0.0013	0.0035	0.0032	0.0040	0.0020	0.0008	0.0003	0.0009	0.0021	0.0013	0.0016	0.0019	0.0022	0.0065	0.0022	0.0022	0.0034	0.0020	0.0020	0.0029	0.0028	0.0034	0	0.0031	0.0017	0.0006	0.0007	0.0068	0.0016	0.0057	0.0023	.	.	.	0.004	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.342870	0.13936	N	0.537521	0.997966	0.22421	N	.	.	.	.	.	.	.	.	.	0.491	0.54322	-1.1328	0.01653	T	0.001	0.00318	T	10	0.0036511421	0.00067	T	.	.	.	.	.	.	.	.	.	0.1515238076535719	0.15074	.	.	0.536111354828	0.43897	T	0.048898	0.28150	T	-0.412054	0.01926	T	-0.301284	0.44589	T	0.0380778894381519	0.03347	T	0.90371	0.66210	D	0.047115937	0.08001	0.08508483	0.19619	0.047115937	0.08001	0.08508483	0.19618	-3.303	0.16501	T	.	.	0.132	0.28348	B	.;.	.;.	4.520773	0.70884	25.6	0.99069324025608885	0.51692	0.77522	0.38125	D	AEFBI	0.292973	0.40371	N	0.0167897836888215	0.42618	2.571334	-0.152695531575312	0.33305	1.903723	0.0503385009946496	0.14836	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	2.84	2.84	0.32241	4.077000	0.57320	8.546000	0.77510	0.480000	0.22105	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	11.205	0.47993	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017162	0.038961	0.016575	0.022124	0.000000	0.008772	0.006803	0.007937	0.05	660.43	53	chr7	75422156	.	G	A	660.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.76;DP=437;ExcessHet=0;FS=18.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.04;MQRankSum=0.304;QD=10.65;ReadPosRankSum=-1.815;SOR=2.828	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr7	75441459	75441459	G	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon4:c.C38T:p.P13L	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0613418410371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	5.446e-06	5.501e-06	2.988e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	2.988e-05	0	0	0	0	0	6.296e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.114	0.74150	T	0.98	0.59353	D	0.939	0.67449	D	0.019975	0.27141	N	0.177374	0.999918	0.51308	D	1.85	0.49092	L	.	.	.	-8.11	0.96693	D	0.769	0.82559	0.020	0.82651	D	0.542	0.83113	D	10	0.7371663	0.74701	D	0.061342	0.68300	D	0.361	0.68141	0.482	0.56302	0.468003879618	0.46428	0.4981504123612331	0.49736	.	.	0.591971635818	0.51773	T	0.090447	0.38587	T	0.233931	0.77089	D	0.0982495	0.76792	D	0.996672868728638	0.89839	D	0.835416	0.50550	T	0.078865536	0.17985	0.120910525	0.29177	0.078865536	0.17985	0.120910525	0.29176	-3.437	0.20849	T	.	.	0.433	0.68896	A	.;.;.	.;.;.	4.060755	0.60260	24.2	0.9701718784386113	0.32010	0.98540	0.83876	D	AEFBI	0.524286	0.54754	D	0.192097727843159	0.50818	3.268425	0.0624929397190166	0.42678	2.585729	0.999963251887011	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.05	3.16	0.35406	6.883000	0.75397	11.839000	0.97761	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.623000	0.31974	0.1064:0.0:0.8936:0.0	9.076	0.35681	912	0.21483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2805.43	38	chr7	75441459	.	G	A	2805.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.796;DP=600;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.92;MQRankSum=-1.227;QD=11.04;ReadPosRankSum=0.85;SOR=0.62	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr7	75987922	75987922	C	A	splicing	TMEM120A	NM_031925:exon8:c.691+1G>T;NM_001317803:exon8:c.691+1G>T;NM_001363462:exon7:c.794+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310573	0.83789	D	0.20834	0.83579	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.059350	0.94461	34	0.99147864305022659	0.53737	0.98013	0.78872	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999990251921	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.117559	0.03655	0	0.972978	0.75373	3.41	3.41	0.38145	6.093000	0.71069	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.077	0.71751	602	0.67834	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2454.43	45	chr7	75987922	.	C	A	2454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=593;ExcessHet=0;FS=0.538;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-0.42;SOR=0.637	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1578	9	0	1	0
chr7	76400331	76400331	C	T	exonic	SSC4D	.	nonsynonymous SNV	SSC4D:NM_080744:exon4:c.G430A:p.V144I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00376251418997	7.7e-05	0.000399361	5.581e-05	0.0001	8.761e-05	0.0002	0	3.237e-05	0	0	5.17e-05	8	154602	rs370215401	2.666e-05	3.42e-05	2.615e-05	2.718e-05	0.0001	1.952e-05	1.732e-05	4.725e-05	2.77e-05	0.0001	0	0	0	2.001e-05	0	2.467e-05	3.619e-05	4.187e-05	2.625e-05	2.624e-05	1.284e-05	4.026e-05	6.533e-05	8.13e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.533e-05	0	0	0	0	4.409e-05	0	0	0.289	0.15047	T	0.292	0.20877	T	0.032	0.20242	B	0.015	0.17295	B	0.000146	0.49130	N	0.136428	0.970194	0.81001	N	1.225	0.30651	L	0.66	0.52416	T	-0.3	0.11913	N	0.131	0.12627	-1.0996	0.04140	T	0.066	0.27087	T	10	0.04336375	0.03178	T	0.003763	0.08744	T	0.017	0.02790	.	.	0.303123707472	0.29912	0.11048834208946198	0.10977	0.0402003435154	0.04305	0.378241479397	0.22006	T	0.049378	0.28290	T	-0.402462	0.02231	T	-0.622236	0.11010	T	0.0339255774417912	0.02624	T	0.70393	0.31399	T	0.056099024	0.10991	0.035759915	0.02890	0.056099024	0.10990	0.035759915	0.02889	-6.291	0.48650	T	.	.	0.070	0.03625	B	.	.	1.142167	0.15295	11.74	0.99101689228759648	0.52496	0.15435	0.18910	N	AEFDBI	0.114225	0.22507	N	-0.731075073778076	0.15152	0.7611324	-0.660772400310276	0.17945	0.9564666	0.966015804127323	0.28872	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.45	1.55	0.22356	0.020000	0.13359	-1.114000	0.06289	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.992000	0.67800	0.127:0.5232:0.0:0.3498	5.292	0.15043	871	0.31377	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	432.43	35	chr7	76400331	.	C	T	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=375;ExcessHet=0;FS=4.452;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=0.034;SOR=1.152	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1031	9	0	1	0
chr7	76440265	76440265	C	T	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon6:c.C847T:p.H283Y,ZP3:NM_007155:exon7:c.C694T:p.H232Y	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.0368710030897	0.0003	0.000998403	0.0003	0.0023	0	0	0	0.0001	0	0	0.0002305	6	26028	rs149689401	5.826e-05	8.003e-05	6.955e-05	4.685e-05	0.0020	4.819e-05	4.44e-05	0.0016	0.0015	0.0020	4.522e-05	0	2.539e-05	0	0	4.501e-06	0.0001	1.165e-05	0.0005	0.0006	0.0005	0.0004	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0003	0	0	0	0	0	0	0	0.044	0.43393	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.002206	0.37012	U	0.257437	0.811873	0.34652	D	2.435	0.70606	M	-1.61	0.82254	D	-4.67	0.82221	D	0.463	0.51494	0.488	0.90374	D	0.662	0.88265	D	10	0.0400486	0.02542	T	0.036871	0.57261	D	0.507	0.78786	.	.	0.660900288065	0.65805	0.6588668950473383	0.65823	2.72559754066	0.98638	0.510797142982	0.40334	T	0.549505	0.84720	D	-0.256413	0.13323	T	-0.148359	0.59389	T	0.182223783253397	0.19375	T	0.918208	0.72410	D	0.28272206	0.51308	0.30194813	0.56227	0.28272206	0.51308	0.30194813	0.56226	-10.826	0.78695	D	0.4793334283647458	0.55828	0.262	0.54448	B	.;.;.	.;.;.	3.513899	0.49220	22.7	0.99245668372199591	0.56695	0.74686	0.36542	D	AEFBI	0.121890	0.23678	N	0.312522211025924	0.56790	3.844433	0.305874027946764	0.55883	3.751282	0.214347660820583	0.18278	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.33	4.33	0.51083	2.529000	0.45292	7.373000	0.58408	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.848000	0.40082	0.1966:0.8034:0.0:0.0	10.363	0.43188	881	0.29269	.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	260.43	35	chr7	76440265	.	C	T	260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=441;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.95;MQRankSum=0.054;QD=2.43;ReadPosRankSum=-0.845;SOR=0.439	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1297	9	0	1	0
chr7	76510998	76510998	G	A	exonic	UPK3B	.	nonsynonymous SNV	UPK3B:NM_030570:exon1:c.G346A:p.D116N,UPK3B:NM_001347684:exon2:c.G181A:p.D61N,UPK3B:NM_182683:exon2:c.G181A:p.D61N,UPK3B:NM_182684:exon2:c.G181A:p.D61N	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0173217072352	0.0008	0.000599042	0.0040	0.0011	0.0042	0	0.0043	0.0056	0	0.0032	0.0001876	29	154602	rs144609046	0.0021	0.0021	0.0021	0.0021	0.0027	0.0020	0.0020	0.0022	0.0022	0.0002	0.0003	0.0004	2.567e-05	0.0017	0.0027	0.0023	0.0020	0.0024	0.0014	0.0014	0.0014	0.0013	0.0024	0.0012	0.0011	0.0021	0.0020	0.0002	0	0.0003	0	0	0.0023	0	0.0024	0	0.0015	0.166	0.28900	T	0.246	0.26631	T	0.999	0.77913	D	0.9	0.64984	P	0.043977	0.23686	N	0.412335	1	0.08975	N	2.425	0.70256	M	0.34	0.58176	T	-0.99	0.38734	N	0.313	0.35301	-1.0202	0.23649	T	0.151	0.47839	T	10	0.005808711	0.00130	T	0.017322	0.38971	T	0.068	0.19811	.	.	0.28492961333	0.28089	0.5229033510517889	0.52213	.	.	0.400426834822	0.25128	T	0.005367	0.04821	T	-0.571738	0.00216	T	-0.599587	0.12846	T	0.0200471854255136	0.00705	T	0.687931	0.29705	T	0.032730978	0.03354	0.036605395	0.03140	0.032730978	0.03353	0.036605395	0.03139	-5.285	0.39794	T	.	.	0.104	0.38924	B	.;.;.	.;.;.	2.074716	0.26388	17.10	0.99621726635758256	0.75473	0.04748	0.10451	N	AEFGBI	0.067371	0.13241	N	-0.220029420640296	0.32311	1.820949	-0.33848716515106	0.26867	1.486885	0.946602603400206	0.27714	0.653281	0.48532	0	0.588066	0.40923	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	4.93	2.99	0.33673	0.549000	0.23037	2.419000	0.32678	-0.800000	0.03169	0.004000	0.16614	0.995000	0.32472	0.011000	0.09372	0.0919:0.0:0.7447:0.1633	7.759	0.28109	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001697	0.012658	0.000000	0.000000	0.000000	0.000000	0.006897	0.000000	0.05	784.43	37	chr7	76510998	.	G	A	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.601;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.18;MQRankSum=-1.205;QD=10.46;ReadPosRankSum=-0.731;SOR=0.756	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr7	77199646	77199646	C	T	exonic	FGL2	.	nonsynonymous SNV	FGL2:NM_006682:exon1:c.G148A:p.E50K	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0115846605097	.	.	2.472e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs763301081	7.525e-06	7.524e-06	9.529e-06	5.5e-06	0.0002	4.04e-06	2.95e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.496e-06	4.967e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.14	0.33554	T	0.004	0.12183	B	0.001	0.04355	B	0.025859	0.26018	N	0.453336	1	0.81001	D	0.805	0.20218	L	0.3	0.58755	T	-0.88	0.23808	N	0.218	0.24385	-0.9850	0.33832	T	0.143	0.46550	T	10	0.16256177	0.30463	T	0.011585	0.29347	T	0.110	0.31079	0.39	0.41279	0.469082249319	0.46535	0.47139111657557997	0.47058	0.170293765512	0.19201	0.365323245525	0.20158	T	0.334962	0.70463	T	-0.203178	0.20346	T	-0.465981	0.25950	T	0.484546691179276	0.32064	T	0.571043	0.20346	T	0.05071775	0.09204	0.06623908	0.13541	0.05071775	0.09204	0.06623908	0.13540	-3.995	0.23729	T	.	.	0.068	0.16275	B	.;.	.;.	1.945109	0.24705	16.50	0.98840487430215629	0.47119	0.92146	0.55047	D	AEFDGBCI	0.774702	0.70833	D	-0.611482972542838	0.18598	0.9668666	-0.55166961777549	0.20761	1.120077	0.999999999984421	0.74766	0.541725	0.22260	1	0.405561	0.06353	1	0.459889	0.06779	1	0.530356	0.10902	0	.	.	4.31	3.42	0.38259	5.680000	0.67831	0.193000	0.15765	-0.276000	0.06580	1.000000	0.71638	0.000000	0.08366	0.032000	0.13371	0.0:0.9139:0.0:0.0861	12.030	0.52686	477	0.77662	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1126.43	33	chr7	77199646	.	C	T	1126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.982;DP=409;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.774;SOR=0.826	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1223	9	0	1	0
chr7	77273711	77273711	-	GAT	exonic	CCDC146	.	nonframeshift insertion	CCDC146:NM_020879:exon10:c.1191_1192insGAT:p.D399_S400insD	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.000998403	0.0003	0.0030	0	0	0	1.504e-05	0	0	0.0002587	40	154602	rs370083763	8.919e-05	8.961e-05	0.0001	7.172e-05	0.0033	7.645e-05	7.189e-05	0.0028	0.0026	0.0033	0.0001	0	0	0	0.0005	2.704e-06	0.0001	1.168e-05	0.0008	0.0008	0.0008	0.0009	0.0027	0.0007	0.0006	0.0023	0.0022	0.0027	0	0.0003	0	0	0	0	4.412e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1277.39	33	chr7	77273711	.	A	AGAT	1277.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.351;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=-0.984;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr7	77749537	77749537	A	G	exonic	RSBN1L	.	nonsynonymous SNV	RSBN1L:NM_198467:exon3:c.A817G:p.S273G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00624801470201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	2.725e-06	1.377e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.37326	T	0.247	0.23914	T	0.93	0.51791	P	0.712	0.54560	P	0.000000	0.84330	D	0.124901	0.568237	0.32271	D	2.125	0.59049	M	3.08	0.08460	T	-1.66	0.39692	N	0.315	0.45331	-1.0918	0.05238	T	0.040	0.17020	T	10	0.21379635	0.37882	T	0.006248	0.16406	T	0.132	0.35948	0.21	0.12781	0.110392049598	0.10638	0.07602950945399418	0.07538	0.311052702328	0.33406	0.39835703373	0.24840	T	0.066201	0.32883	T	-0.119809	0.33155	T	-0.409874	0.32240	T	0.857555568218231	0.50830	D	0.916908	0.70254	D	0.23552312	0.46389	0.20405512	0.44512	0.23552312	0.46389	0.20405512	0.44511	-3.723	0.26490	T	.	.	0.146	0.32226	B	.;.	.;.	4.400217	0.67983	25.2	0.99828244610768702	0.91026	0.97324	0.74033	D	AEFDBI	0.735384	0.68122	D	0.534587030253905	0.69150	5.316287	0.591151242406188	0.74303	6.114284	0.999995017798101	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.313000	0.65584	11.264000	0.91177	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.424	0.83629	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	881.43	33	chr7	77749537	.	A	G	881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.312;DP=370;ExcessHet=0;FS=0.937;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-1.057;SOR=0.513	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,995	9	0	1	0
chr7	80646851	80646854	AATT	-	exonic	CD36	.	frameshift deletion	CD36:NM_001127444:exon1:c.111_114del:p.I38Kfs*38,CD36:NM_001289908:exon1:c.111_114del:p.I38Kfs*38,CD36:NM_001127443:exon2:c.111_114del:p.I38Kfs*38,CD36:NM_001289909:exon2:c.111_114del:p.I38Kfs*38,CD36:NM_000072:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001001547:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001001548:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371074:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371075:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371077:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371078:exon3:c.111_114del:p.I38Kfs*38,CD36:NM_001371079:exon3:c.111_114del:p.I38Kfs*4	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1513	5	0	0	5	0.00164962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.103e-05	2.525e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1923.39	35	chr7	80646850	.	CAATT	C	1923.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.206;DP=385;ExcessHet=0;FS=2.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.17;ReadPosRankSum=-1.239;SOR=0.414	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1192	9	0	1	0
chr7	80671017	80671017	G	T	exonic	CD36	.	stopgain	CD36:NM_001289908:exon6:c.G742T:p.G248X,CD36:NM_001371080:exon7:c.G394T:p.G132X,CD36:NM_001127444:exon8:c.G859T:p.G287X,CD36:NM_001289909:exon8:c.G679T:p.G227X,CD36:NM_001289911:exon8:c.G631T:p.G211X,CD36:NM_001127443:exon9:c.G859T:p.G287X,CD36:NM_000072:exon10:c.G859T:p.G287X,CD36:NM_001001547:exon10:c.G859T:p.G287X,CD36:NM_001001548:exon10:c.G859T:p.G287X,CD36:NM_001371074:exon10:c.G859T:p.G287X,CD36:NM_001371075:exon10:c.G859T:p.G287X,CD36:NM_001371077:exon10:c.G859T:p.G287X,CD36:NM_001371078:exon10:c.G859T:p.G287X,CD36:NM_001371079:exon10:c.G757T:p.G253X,CD36:NM_001371081:exon10:c.G394T:p.G132X	Platelet glycoprotein IV deficiency, Autosomal recessive	6	1513	3	0	0	3	0.000990426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.239e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs747098468	1.3e-05	1.3e-05	1.226e-05	1.376e-05	0.0005	8.32e-06	6.7e-06	0.0001	7.546e-05	0	0	0	0	0	0.0005	0	0.0001	9.276e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.862	0.87049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458406	0.92855	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;Recessive;Recessive;Recessive;.	High;High;.;.;.;High;High;High;.	10.853454	0.99862	50	0.99481625960550024	0.66904	0.98449	0.82893	D	AEFCI	0.488514	0.52681	N	1.24987361927443	0.99875	29.28013	1.11785793209549	0.99874	29.23881	0.999999999962957	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.85	5.85	0.93663	9.352000	0.96480	11.902000	0.99384	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.777	0.96393	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	417.43	39	chr7	80671017	.	G	T	417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.109;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.079;SOR=0.871	GT:AD:DP:GQ:PL	0/1:23,18:41:99:429,0,568	9	0	1	0
chr7	80671097	80671097	C	A	exonic	CD36	.	stopgain	CD36:NM_001289908:exon6:c.C822A:p.C274X,CD36:NM_001371080:exon7:c.C474A:p.C158X,CD36:NM_001127444:exon8:c.C939A:p.C313X,CD36:NM_001289909:exon8:c.C759A:p.C253X,CD36:NM_001289911:exon8:c.C711A:p.C237X,CD36:NM_001127443:exon9:c.C939A:p.C313X,CD36:NM_000072:exon10:c.C939A:p.C313X,CD36:NM_001001547:exon10:c.C939A:p.C313X,CD36:NM_001001548:exon10:c.C939A:p.C313X,CD36:NM_001371074:exon10:c.C939A:p.C313X,CD36:NM_001371075:exon10:c.C939A:p.C313X,CD36:NM_001371077:exon10:c.C939A:p.C313X,CD36:NM_001371078:exon10:c.C939A:p.C313X,CD36:NM_001371079:exon10:c.C837A:p.C279X,CD36:NM_001371081:exon10:c.C474A:p.C158X	Platelet glycoprotein IV deficiency, Autosomal recessive	2	1517	3	0	0	3	0.000987817	.	.	YES	3512231	CD36-related_disorder	.	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs762366674	2.602e-05	2.668e-05	2.725e-05	2.477e-05	0.0016	1.934e-05	1.694e-05	0.0008	0.0006	0	4.473e-05	0	0	0	0.0016	1.53e-05	6.63e-05	6.957e-05	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.946	0.95725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381268	0.88790	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.;.;.;Recessive;Recessive;Recessive;.	High;High;.;.;.;High;High;High;.	7.456890	0.96536	36	0.99433755170560567	0.64423	0.84997	0.44096	D	AEFCI	0.525168	0.54805	D	0.743991273880416	0.82511	7.781182	0.552848325746953	0.71596	5.678917	0.237080001196318	0.18530	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.57	2.81	0.31971	0.046000	0.13919	-0.001000	0.13204	-0.257000	0.07002	0.860000	0.30612	0.776000	0.26740	0.990000	0.65344	0.0:0.7091:0.0:0.2909	9.416	0.37686	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	697.43	39	chr7	80671097	.	C	A	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.825;DP=375;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-1.386;SOR=0.951	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1210	9	0	1	0
chr7	80671950	80671956	TTTTCTG	-	exonic	CD36	.	frameshift deletion	CD36:NM_001289908:exon7:c.918_924del:p.F307Mfs*13,CD36:NM_001371080:exon8:c.570_576del:p.F191Mfs*13,CD36:NM_001127444:exon9:c.1035_1041del:p.F346Mfs*13,CD36:NM_001289909:exon9:c.855_861del:p.F286Mfs*13,CD36:NM_001289911:exon9:c.807_813del:p.F270Mfs*13,CD36:NM_001127443:exon10:c.1035_1041del:p.F346Mfs*13,CD36:NM_000072:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001001547:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001001548:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371074:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371075:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371077:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371078:exon11:c.1035_1041del:p.F346Mfs*13,CD36:NM_001371079:exon11:c.933_939del:p.F312Mfs*13,CD36:NM_001371081:exon11:c.570_576del:p.F191Mfs*13	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1509	9	0	0	9	0.00297324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.537e-06	7.525e-06	6.819e-06	8.263e-06	0.0007	4.05e-06	2.96e-06	0.0002	0.0001	0	0	0	0	0	0.0007	9.006e-07	4.978e-05	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1699.39	38	chr7	80671949	.	ATTTTCTG	A	1699.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=423;ExcessHet=0;FS=1.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.67;ReadPosRankSum=-1.118;SOR=0.929	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1137	9	0	1	0
chr7	80673392	80673392	-	TTCT	exonic	CD36	.	frameshift insertion	CD36:NM_001289908:exon9:c.1120_1121insTTCT:p.W376Sfs*4,CD36:NM_001371080:exon10:c.772_773insTTCT:p.W260Sfs*4,CD36:NM_001127444:exon11:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001289909:exon11:c.1057_1058insTTCT:p.W355Sfs*4,CD36:NM_001289911:exon11:c.1009_1010insTTCT:p.W339Sfs*4,CD36:NM_001127443:exon12:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_000072:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001547:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001001548:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371074:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371075:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371077:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371078:exon13:c.1237_1238insTTCT:p.W415Sfs*4,CD36:NM_001371079:exon13:c.1135_1136insTTCT:p.W381Sfs*4,CD36:NM_001371081:exon13:c.772_773insTTCT:p.W260Sfs*4	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1020402	Platelet-type_bleeding_disorder_10	MONDO:MONDO:0012031,MedGen:C1842090,OMIM:608404	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	8.703e-05	0	0	0	0	0.0019	0.0002135	33	154602	rs757142781	0.0002	0.0002	6.199e-05	0.0003	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	0	0.0002	0.0025	0.0001	0.0001	2.577e-05	0.0002	0.0035	8.683e-05	7.271e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0.0014	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	789.39	37	chr7	80673392	.	A	ATTCT	789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.833;DP=306;ExcessHet=0;FS=5.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.92;ReadPosRankSum=-0.793;SOR=0.223	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,625	9	0	1	0
chr7	80674068	80674068	T	C	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon10:c.T1223C:p.I408T,CD36:NM_001371080:exon11:c.T875C:p.I292T,CD36:NM_001127444:exon12:c.T1340C:p.I447T,CD36:NM_001289909:exon12:c.T1160C:p.I387T,CD36:NM_001289911:exon12:c.T1112C:p.I371T,CD36:NM_001127443:exon13:c.T1340C:p.I447T,CD36:NM_000072:exon14:c.T1340C:p.I447T,CD36:NM_001001547:exon14:c.T1340C:p.I447T,CD36:NM_001001548:exon14:c.T1340C:p.I447T,CD36:NM_001371074:exon14:c.T1340C:p.I447T,CD36:NM_001371075:exon14:c.T1340C:p.I447T,CD36:NM_001371077:exon14:c.T1340C:p.I447T,CD36:NM_001371078:exon14:c.T1340C:p.I447T,CD36:NM_001371079:exon14:c.T1238C:p.I413T,CD36:NM_001371081:exon14:c.T875C:p.I292T	Platelet glycoprotein IV deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0128448116811	.	.	8.482e-06	0	0	0	0	1.549e-05	0	0	3.84e-05	1	26028	rs751164081	0	6.849e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.35726	T	0.368	0.45961	T	0.002	0.09854	B	0.007	0.12992	B	0.831605	0.09101	N	0.930341	1	0.08975	N	1.735	0.44892	L	-0.65	0.72237	T	-2.1	0.50012	N	0.081	0.14763	-0.7991	0.55197	T	0.299	0.66998	T	9	0.108909905	0.20295	T	0.012845	0.31760	T	0.209	0.49871	0.501	0.59304	0.301455362545	0.29754	0.7503614139139723	0.74983	3.66727572043E-4	0.00038	0.393968701363	0.24227	T	0.147103	0.48503	T	-0.0681944	0.41614	T	-0.335733	0.40826	T	0.120847053825855	0.14512	T	0.675632	0.28664	T	0.0584413	0.11757	0.07565062	0.16678	0.0584413	0.11756	0.07565062	0.16678	-4.668	0.34039	T	0.07566096464035185	0.03389	0.129	0.31355	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.531888	0.09008	5.788	0.93130191544615704	0.22770	0.10590	0.16054	N	AEFGCI	0.113178	0.22341	N	-0.576903094426341	0.19647	1.029943	-0.570190002599607	0.20272	1.091433	0.506391076870093	0.20984	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.84	3.4	0.38031	-0.530000	0.06266	-3.215000	0.02964	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.1265:0.2116:0.0:0.6619	4.934	0.13281	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	92.44	144	chr7	80674068	.	T	C	92.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-5.327;DP=847;ExcessHet=0.7463;FS=134.406;InbreedingCoeff=-0.1534;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.23;ReadPosRankSum=1.37;SOR=10.061	GT:AD:DP:GQ:PL	0/1:100,34:134:3:3,0,1579	7	0	3	0
chr7	82066526	82066526	-	AAA	splicing	CACNA2D1	NM_001366867:exon8:c.659-2->TTT;NM_000722:exon8:c.659-2->TTT;NM_001302890:exon8:c.659-2->TTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370103843	0.0001	0.0003	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0001	0.0001	0.0002	5.668e-05	0.0003	0	0.0001	0.0001	0.0006	1.79e-05	6.298e-05	1.701e-05	1.888e-05	4.011e-05	2.97e-06	1.11e-06	6.65e-06	2.49e-06	0	0	0	0	0	0	0	4.011e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	948.06	26	chr7	82066526	.	T	TAAA	948.06	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.743;DP=349;ExcessHet=2.8549;FS=0.583;InbreedingCoeff=-0.2769;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.82;ReadPosRankSum=1.44;SOR=0.754	GT:AD:DP:GQ:PL	0/0:21,0:21:33:0,33,495	9	0	1	0
chr7	85022412	85022412	C	T	exonic	SEMA3D	.	nonsynonymous SNV	SEMA3D:NM_152754:exon12:c.G1393A:p.D465N,SEMA3D:NM_001384900:exon13:c.G1393A:p.D465N,SEMA3D:NM_001384901:exon14:c.G1393A:p.D465N,SEMA3D:NM_001384902:exon15:c.G1393A:p.D465N,SEMA3D:NM_001384903:exon15:c.G1393A:p.D465N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0195002896277	.	.	2.474e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs202240375	1.645e-05	1.71e-05	4.092e-06	2.892e-05	0.0002	1.113e-05	9.35e-06	0.0001	0.0001	2.998e-05	0	0	2.521e-05	0	0	3.604e-06	0	0.0002	6.585e-06	6.569e-06	1.287e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.034	0.44029	D	0.033	0.53072	D	1.0	0.90584	D	0.903	0.64103	P	0.000003	0.62929	D	0.135696	1	0.81001	D	1.465	0.36909	L	1.87	0.24085	T	-3.82	0.71997	D	0.418	0.45803	-0.8997	0.48024	T	0.163	0.49881	T	10	0.49144182	0.61015	T	0.019	0.41878	T	0.252	0.56159	0.583	0.70990	0.789584032943	0.78763	0.4644601824722659	0.46365	0.161295741042	0.18205	0.630487799644	0.57215	T	0.112584	0.42896	T	-0.29326	0.09312	T	-0.422355	0.30805	T	0.779456615447998	0.45016	D	0.939506	0.77228	D	0.32477906	0.55040	0.30308613	0.56340	0.32477906	0.55040	0.30308613	0.56339	-6.207	0.47980	T	0.1986648698083317	0.26314	0.150	0.33086	B	.	.	5.255063	0.88230	29.5	0.9992908295041214	0.99279	0.94124	0.60185	D	AEFDGCI	0.728646	0.67661	D	0.678389890899779	0.78218	6.827146	0.654864910448012	0.78973	6.985353	0.999999999999841	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.67	5.67	0.87673	4.085000	0.57380	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	19.776	0.96389	913	0.21160	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1270.43	35	chr7	85022412	.	C	T	1270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.305;DP=438;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.98;SOR=0.588	GT:AD:DP:GQ:PL	0/1:69,57:126:99:1282,0,1609	9	0	1	0
chr7	87375925	87375925	C	T	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon9:c.C848T:p.P283L,CROT:NM_001143935:exon10:c.C932T:p.P311L	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.0889338617051	0.0003	0.00119808	0.0011	9.641e-05	0.0008	0	0	0.0002	0.0011	0.0066	0.0009508	147	154602	rs144536594	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0006	0.0064	0.0062	5.986e-05	0.0007	0.0042	0	0	0.0007	5.761e-05	0.0012	0.0069	0.0005	0.0005	0.0003	0.0006	0.0083	0.0004	0.0004	0.0063	0.0056	2.415e-05	0	0.0009	0.0032	0	0	0	0.0001	0	0.0083	0.002	0.72154	D	0.0	0.92824	D	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.046287	1	0.81001	D	3.505	0.92816	H	-2.63	0.90083	D	-3.51	0.68298	D	0.657	0.66700	0.976	0.96801	D	0.896	0.96558	D	10	0.014008164	0.00295	T	0.088934	0.75228	D	0.713	0.89786	.	.	0.862574289079	0.86123	0.6719087945489178	0.67128	0.20218460776	0.22641	0.454561173916	0.32568	T	0.65834	0.89716	D	-0.0564136	0.43466	T	0.149079	0.80125	D	0.131771234312643	0.15545	T	0.944006	0.78847	D	0.7401903	0.80303	0.7111707	0.82961	0.7401903	0.80304	0.7111707	0.82962	-3.278	0.13455	T	.	.	0.292	0.54954	B	.;.;.	.;.;.	4.794385	0.77832	26.8	0.99868185308254043	0.94637	0.89417	0.49869	D	AEFDGBHCI	0.820646	0.74139	D	0.901491547235318	0.91832	11.08848	0.813148032048902	0.90691	10.52442	0.99999999999714	0.74766	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.48	5.48	0.80675	6.699000	0.74437	7.729000	0.67687	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	0.0:1.0:0.0:0.0	19.711	0.96091	489	0.76795	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	725.43	34	chr7	87375925	.	C	T	725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.651;DP=372;ExcessHet=0;FS=0.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.579;SOR=0.527	GT:AD:DP:GQ:PL	0/1:35,31:66:99:737,0,956	9	0	1	0
chr7	87426904	87426904	A	T	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon16:c.T1910A:p.I637N,ABCB4:NM_018849:exon16:c.T1910A:p.I637N,ABCB4:NM_018850:exon16:c.T1910A:p.I637N	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	4	1512	6	0	0	6	0.0019802	.	.	.	1037823	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.254	0.0932750935927	0.0002	.	0.0001	0	8.7e-05	0	0	4.519e-05	0.0011	0.0005	0.0001229	19	154602	rs202167250	0.0001	0.0001	7.352e-05	0.0001	0.0009	9.051e-05	8.534e-05	0.0006	0.0005	0	4.473e-05	3.828e-05	0	0	0.0009	6.206e-05	0.0002	0.0007	0.0001	0.0001	6.456e-05	0.0002	0.0015	7.623e-05	6.32e-05	0.0007	0.0005	0	0	6.593e-05	0	0	0	0	0.0001	0	0.0015	0.483	0.08188	T	0.589	0.11227	T	0.0	0.02946	B	0.009	0.14300	B	0.001481	0.00791	N	3.438500	1	0.08975	N	0.625	0.15840	N	-2.18	0.86722	D	-1.02	0.26843	N	0.198	0.23253	-0.7332	0.58801	T	0.418	0.76408	T	10	0.024738103	0.00691	T	0.093275	0.76044	D	0.254	0.56428	.	.	0.279370189704	0.27548	0.2983255275896754	0.29745	0.483371570109	0.47292	0.421390205622	0.28028	T	0.191927	0.54692	T	-0.362237	0.04005	T	-0.415374	0.31606	T	0.0402595698833466	0.03738	T	0.818018	0.47523	T	0.076635785	0.17344	0.06567997	0.13346	0.076635785	0.17343	0.06567997	0.13345	-2.072	0.03644	T	0.0714429026924326	0.02843	0.071	0.05668	B	.;.;.;.;.	.;.;.;.;.	1.087697	0.14711	11.26	0.38176797181275923	0.02559	0.06549	0.12562	N	AEFBI	0.207359	0.33354	N	-1.46172775267772	0.02126	0.09355688	-1.49467651410227	0.02387	0.1097215	0.0130269239081041	0.12406	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.92	-2.36	0.06282	0.201000	0.17074	0.089000	0.14491	-0.051000	0.17024	0.000000	0.06391	0.000000	0.08366	0.886000	0.42526	0.5119:0.0:0.206:0.282	4.658	0.12014	469	0.78175	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	506.43	33	chr7	87426904	.	A	T	506.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.361;DP=347;ExcessHet=0;FS=1.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.203;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	9	0	1	0
chr7	87452957	87452957	T	C	exonic	ABCB4	.	nonsynonymous SNV	ABCB4:NM_000443:exon6:c.A523G:p.T175A,ABCB4:NM_018849:exon6:c.A523G:p.T175A,ABCB4:NM_018850:exon6:c.A523G:p.T175A	Cholestasis, intrahepatic, of pregnancy, 3, Autosomal recessive, Autosomal dominant;Cholestasis, progressive familial intrahepatic 3, Autosomal recessive;Gallbladder disease 1, Autosomal recessive, Autosomal dominant	6	1494	21	1	0	23	0.00763866	.	.	.	28730	not_specified|not_provided|Cholestasis,_intrahepatic,_of_pregnancy,_3|Low_phospholipid_associated_cholelithiasis|Progressive_familial_intrahepatic_cholestasis_type_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013995,MedGen:C3554241,OMIM:614972,Orphanet:69665|MONDO:MONDO:0010939,MedGen:C2609268,OMIM:600803,Orphanet:69663|MONDO:MONDO:0011214,MedGen:C1865643,OMIM:602347,Orphanet:79305	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.581	.	0.0085	0.00638978	0.0106	0.0012	0.0079	0.0006	0.0337	0.0107	0.0243	0.0133	0.0100581	1555	154602	rs58238559	0.0094	0.0094	0.0091	0.0096	0.0136	0.0092	0.0092	0.0130	0.0127	0.0013	0.0078	0.0051	0.0007	0.0353	0.0047	0.0086	0.0076	0.0136	0.0091	0.0091	0.0079	0.0103	0.0120	0.0087	0.0085	0.0095	0.0092	0.0013	0.0099	0.0074	0.0035	0.0004	0.0418	0.0034	0.0100	0.0057	0.0120	0.002	0.72154	D	0.083	0.41405	T	0.841	0.47740	P	0.615	0.55432	P	0.000000	0.84330	D	0.046680	1	0.81001	A	2.755	0.80505	M	-1.33	0.79854	T	-3.77	0.71997	D	0.322	0.51851	0.159	0.85208	D	0.481	0.80185	T	9	0.011848539	0.00257	T	.	.	.	0.581	0.83137	.	.	.	.	0.8884451188334237	0.88813	0.778371249764	0.65146	0.491507828236	0.37648	T	0.76704	0.93735	D	-0.121492	0.32879	T	0.0643854	0.74536	D	0.0273231974595752	0.01590	T	0.927907	0.73422	D	0.7808954	0.82709	0.70820194	0.82793	0.82174784	0.85339	0.6922355	0.81887	-8.721	0.66817	D	0.31431262091786344	0.41231	0.139	0.39982	B	.;.;.;.;.	.;.;.;.;.	4.349374	0.66796	25.0	0.99899103891873675	0.97124	0.99189	0.92544	D	AEFBI	0.877848	0.80274	D	0.521155578972957	0.68343	5.204016	0.574596404183443	0.73126	5.919407	0.999999960561408	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.86	5.86	0.93936	5.089000	0.64326	7.875000	0.72177	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.258	0.82351	464	0.78488	.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.005848	0.000000	0.000000	0.015244	0.007576	0.05	595.43	35	chr7	87452957	.	T	C	595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.381;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1082	9	0	1	0
chr7	90384936	90384936	G	A	exonic	GTPBP10	.	nonsynonymous SNV	GTPBP10:NM_001042717:exon8:c.G709A:p.V237I,GTPBP10:NM_033107:exon10:c.G946A:p.V316I	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00296216610313	.	.	5.777e-05	0	0	0	0	1.501e-05	0	0.0004	4.53e-05	7	154602	rs745997084	1.507e-05	1.505e-05	5.453e-06	2.478e-05	0.0002	9.87e-06	8.42e-06	0.0002	0.0001	0	0	0	0	0	0	1.801e-06	0	0.0002	1.97e-05	1.968e-05	0	4.029e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.768	0.04417	T	0.746	0.04877	T	0.0	0.02946	B	0.003	0.08700	B	0.622612	0.05764	N	1.178770	1	0.08975	N	-1.05	0.01069	N	2.02	0.21119	T	0.42	0.03352	N	0.031	0.00770	-0.9936	0.31670	T	0.025	0.10688	T	9	0.020967573	0.00493	T	0.002962	0.06309	T	0.054	0.15330	0.467	0.53891	0.104622674875	0.10061	0.10024040645703976	0.09955	0.026182334358	0.02673	0.226937502623	0.01749	T	0.001744	0.01167	T	-0.596026	0.00154	T	-0.814491	0.01567	T	0.0220093538525983	0.00910	T	0.711229	0.32236	T	0.01565001	0.00150	0.025746789	0.00631	0.01565001	0.00150	0.025746789	0.00630	-2.33	0.04722	T	.	.	0.076	0.06024	B	.;.	.;.	-1.174284	0.00558	0.013	0.6606148213474381	0.07950	0.01832	0.05685	N	AEFGBCI	0.033368	0.03942	N	-1.68644357294473	0.00891	0.03855901	-1.79022293174679	0.00791	0.03529434	0.999999999995449	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635259	0.50027	0	.	.	5.74	-11.5	0.00057	-2.318000	0.01202	-4.096000	0.02345	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.1656:0.2997:0.5346:0.0	14.869	0.70074	674	0.60593	.;OBG-type guanine nucleotide-binding (G) domain|OBG-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	888.43	34	chr7	90384936	.	G	A	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.534;DP=373;ExcessHet=0;FS=2.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.76;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	9	0	1	0
chr7	91874189	91874189	C	T	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.G545A:p.R182H,MTERF1:NM_006980:exon3:c.G605A:p.R202H,MTERF1:NM_001301135:exon4:c.G545A:p.R182H	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0159223250079	7.7e-05	.	3.298e-05	0	0	0.0001	0	2.998e-05	0	6.058e-05	2.59e-05	4	154602	rs149835747	0.0001	0.0001	0.0001	9.625e-05	0.0005	9.805e-05	9.221e-05	0.0001	9.767e-05	0	2.236e-05	0	5.038e-05	0	0.0005	0.0001	0.0003	8.115e-05	2.631e-05	2.628e-05	0	5.386e-05	5.88e-05	8.15e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.062	0.38633	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999966	0.81001	D	.	.	.	2.67	0.12473	T	-1.59	0.38345	N	0.614	0.75101	-1.1133	0.02801	T	0.093	0.35390	T	10	0.56137455	0.64807	D	0.015922	0.36914	T	0.270	0.58507	.	.	0.579270068135	0.57597	0.7754257983199503	0.77492	0.111227701114	0.12544	0.521392524242	0.41822	T	0.038491	0.24856	T	-0.007917	0.50556	T	-0.0234469	0.68802	D	0.549723207950592	0.34467	D	0.932007	0.74787	D	0.53719234	0.69239	0.28665972	0.54675	0.53719234	0.69240	0.28665972	0.54674	-9.401	0.70241	D	.	.	0.653	0.71452	P	.;.;.	.;.;.	5.116593	0.85559	28.6	0.99939561734825233	0.99734	0.92843	0.56681	D	AEFBI	0.547041	0.56090	D	0.633820628334448	0.75326	6.286081	0.593859321742876	0.74499	6.147308	0.999999900222414	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	4.62	4.62	0.56946	4.818000	0.62347	4.476000	0.43515	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.102	0.86530	145	0.94217	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1696.43	115	chr7	91874189	.	C	T	1696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=467;ExcessHet=0;FS=4.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=1.22;SOR=0.946	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1308	9	0	1	0
chr7	91874600	91874600	G	A	exonic	MTERF1	.	nonsynonymous SNV	MTERF1:NM_001301134:exon2:c.C134T:p.T45I,MTERF1:NM_006980:exon3:c.C194T:p.T65I,MTERF1:NM_001301135:exon4:c.C134T:p.T45I	.	435	1028	56	3	0	62	0.0292729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0040	0.00559105	0.0068	0.0008	0.0039	0	0.0008	0.0054	0.0077	0.0246	0.0063777	986	154602	rs144315661	0.0060	0.0061	0.0053	0.0068	0.0242	0.0059	0.0059	0.0234	0.0230	0.0007	0.0049	0.0093	2.519e-05	0.0009	0.0189	0.0051	0.0065	0.0242	0.0037	0.0037	0.0036	0.0038	0.0193	0.0034	0.0033	0.0161	0.0150	0.0008	0.0022	0.0046	0.0078	0.0004	0.0005	0.0136	0.0046	0.0057	0.0193	0.022	0.53172	D	0.056	0.48336	T	0.0	0.02946	B	0.0	0.01387	B	0.248325	0.03630	N	1.642570	1	0.08975	N	.	.	.	2.14	0.19588	T	-1.41	0.46673	N	0.065	0.06454	-1.0217	0.23162	T	0.016	0.06616	T	10	0.0039517283	0.00076	T	.	.	.	0.038	0.09825	.	.	0.132336055621	0.12781	0.2644336759851309	0.26356	0.0143366314817	0.01361	0.268318295479	0.05923	T	0.04567	0.28255	T	-0.603668	0.00139	T	-0.620979	0.11108	T	0.000724357750141172	0.00007	T	0.316468	0.06291	T	0.072079584	0.16005	0.06939085	0.14615	0.072079584	0.16005	0.06939085	0.14614	-3.658	0.18700	T	.	.	0.085	0.13644	B	.;.;.;.;.	.;.;.;.;.	-0.333427	0.02474	0.287	0.96019872344555135	0.28471	0.08748	0.14631	N	AEFBI	0.060282	0.11445	N	-1.29027437057803	0.03791	0.1700041	-1.3719998385924	0.03553	0.1659791	0.267473086559066	0.18856	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.23	-5.02	0.02759	-0.051000	0.11840	0.012000	0.13456	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1521:0.15:0.2022:0.4958	2.209	0.03702	144	0.94257	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.008152	0.002924	0.000000	0.008621	0.018293	0.037879	0.05	1567.43	38	chr7	91874600	.	G	A	1567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.851;DP=496;ExcessHet=0;FS=1.303;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.48;SOR=0.561	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1308	9	0	1	0
chr7	93101794	93101794	G	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.C4304T:p.A1435V,SAMD9:NM_017654:exon3:c.C4304T:p.A1435V	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.00661034606428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.0	0.92824	D	0.997	0.70673	D	0.887	0.62952	P	0.000144	0.49130	D	0.078191	0.960491	0.38183	D	2.35	0.67516	M	1.81	0.25182	T	-1.17	0.29933	N	0.527	0.55626	-1.0346	0.18983	T	0.107	0.38906	T	10	0.5147096	0.62299	D	0.00661	0.17444	T	0.188	0.46444	0.343	0.33626	0.405839309607	0.40195	0.25079414112991283	0.24993	0.655654456788	0.58598	0.497941374779	0.38541	T	0.016555	0.13660	T	-0.0574532	0.43303	T	-0.320304	0.42542	T	0.974688947200775	0.70612	D	0.867113	0.56785	D	0.1291053	0.30164	0.11630892	0.28078	0.1291053	0.30164	0.11630892	0.28077	-5.699	0.43685	T	0.4739927135675689	0.55390	0.533	0.66042	A	.;.	.;.	3.682887	0.52433	23.2	0.99880291061353033	0.95653	0.97376	0.74358	D	AEFBI	0.667246	0.63544	D	0.397249371701293	0.61272	4.326125	0.321927718060265	0.56830	3.847072	0.999999813156593	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.35	4.35	0.51454	7.122000	0.76789	9.581000	0.81029	0.654000	0.53741	0.996000	0.39380	1.000000	0.68203	0.083000	0.17415	0.0:0.0:1.0:0.0	15.932	0.79459	808	0.43318	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2151.43	40	chr7	93101794	.	G	A	2151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.427;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-1.421;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	9	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,32:193:99:.:.:271,0,5196:.	2	0	8	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,42:193:99:.:.:357,0,5168:.	0	0	10	0
chr7	93103090	93103090	T	C	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.A3008G:p.N1003S,SAMD9:NM_017654:exon3:c.A3008G:p.N1003S	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	2	1504	15	1	0	17	0.00561983	.	.	.	700285	not_provided|SAMD9-related_disorder|Monosomy_7_myelodysplasia_and_leukemia_syndrome_2|Normophosphatemic_familial_tumoral_calcinosis|MIRAGE_syndrome|not_specified	MedGen:C3661900|.|MONDO:MONDO:0030801,MedGen:C5436668,OMIM:619041|MONDO:MONDO:0012502,MedGen:C1864861,OMIM:610455,Orphanet:306658,Orphanet:53715|MONDO:MONDO:0014888,MedGen:C4284088,OMIM:617053,Orphanet:494433|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00166449485854	0.0011	0.00139776	0.0016	0	0	0	0.0014	0.0018	0	0.0039	0.0014165	219	154602	rs146087534	0.0011	0.0011	0.0009	0.0013	0.0044	0.0010	0.0010	0.0041	0.0039	0.0001	6.709e-05	0.0049	0	0.0015	0.0017	0.0008	0.0012	0.0044	0.0010	0.0010	0.0012	0.0008	0.0048	0.0009	0.0008	0.0033	0.0028	0	0.0022	0.0002	0.0046	0	0.0010	0	0.0014	0	0.0048	0.524	0.08384	T	0.607	0.07766	T	0.001	0.07471	B	0.001	0.04355	B	0.306339	0.03987	N	1.562160	1	0.08975	N	-0.205	0.04094	N	2.06	0.20523	T	-0.16	0.09460	N	0.034	0.00942	-1.0068	0.27912	T	0.026	0.11087	T	10	0.0070096552	0.00159	T	0.001664	0.02728	T	0.021	0.04004	.	.	0.236890367714	0.23314	0.13326230050143367	0.13250	0.119802300629	0.13497	0.281596302986	0.07715	T	0.002163	0.06460	T	-0.718153	0.00028	T	-0.80551	0.01768	T	0.00708051648783643	0.00081	T	0.514549	0.16570	T	0.04568088	0.07518	0.036580313	0.03134	0.04568088	0.07518	0.036580313	0.03134	-1.471	0.01706	T	0.06905291115663832	0.02557	0.062	0.01512	B	.;.;.	.;.;.	0.348753	0.07221	3.814	0.26150751685118251	0.01239	0.13109	0.17668	N	AEFBI	0.128610	0.24644	N	-0.993866258884984	0.08734	0.4106606	-0.930594312053717	0.11374	0.5790482	0.0214806124056829	0.13352	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.645948	0.59608	0	.	.	4.79	0.837	0.18032	0.482000	0.21985	0.685000	0.20714	0.643000	0.52288	0.000000	0.06391	0.001000	0.17328	0.104000	0.18471	0.0:0.1903:0.2439:0.5657	5.079	0.13984	805	0.43675	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1	4495.14	98	chr7	93103090	.	T	C	4495.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.805;DP=1033;ExcessHet=0.2348;FS=1.744;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.544;SOR=0.848	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	8	0	2	0
chr7	93103253	93103253	C	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G2845T:p.A949S,SAMD9:NM_017654:exon3:c.G2845T:p.A949S	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1187283	SAMD9-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00235930496808	7.7e-05	0.000399361	0.0003	0	0.0004	0	0	0.0005	0	0.0004	0.0003299	51	154602	rs151038564	0.0003	0.0003	0.0003	0.0003	0.0028	0.0003	0.0003	0.0017	0.0014	2.987e-05	0.0004	0.0041	2.52e-05	0	0.0028	0.0002	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0002	2.407e-05	0	0.0003	0.0046	0	0	0	0.0004	0	0	0.136	0.28520	T	0.502	0.16086	T	0.075	0.24198	B	0.043	0.24256	B	0.060815	0.22220	N	0.380726	1	0.08975	N	2.38	0.68558	M	1.92	0.23082	T	-0.28	0.11547	N	0.066	0.07398	-1.0215	0.23227	T	0.040	0.17362	T	10	0.006142378	0.00138	T	0.002359	0.04590	T	0.014	0.01968	.	.	0.445614145163	0.44183	0.15170462133607512	0.15092	0.144935694035	0.16379	0.306561410427	0.11388	T	0.007937	0.16209	T	-0.495964	0.00602	T	-0.591614	0.13526	T	0.0128239031194499	0.00218	T	0.629237	0.24427	T	0.03410155	0.03761	0.04003537	0.04236	0.03410155	0.03761	0.04003537	0.04236	-2.577	0.06330	T	0.1559713212190247	0.18732	0.097	0.21840	B	.;.;.	.;.;.	0.794003	0.11644	8.230	0.94112966816544275	0.24284	0.05426	0.11299	N	AEFBI	0.087320	0.17705	N	-0.77464793926998	0.13973	0.6923607	-0.767771550666298	0.15286	0.8031851	0.0669147450015858	0.15409	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.79	2.96	0.33383	-0.809000	0.04617	-3.399000	0.02816	-0.869000	0.02574	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1864:0.5506:0.0:0.2629	3.376	0.06815	805	0.43675	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4750.12	98	chr7	93103253	.	C	A	4750.12	.	AC=2;AF=0.1;AN=20;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.67;SOR=0.959	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	9	1	0	0
chr7	94664227	94664227	C	T	exonic	PEG10	.	nonsynonymous SNV	PEG10:NM_001040152:exon2:c.C671T:p.A224V,PEG10:NM_001172438:exon2:c.C899T:p.A300V,PEG10:NM_001184962:exon2:c.C773T:p.A258V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00673069802974	.	.	1.663e-05	0	8.652e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs763573128	9.579e-06	9.577e-06	6.807e-06	1.238e-05	6.956e-05	5.56e-06	4.35e-06	2.995e-05	2.038e-05	0	6.708e-05	0	0	0	0	3.598e-06	1.656e-05	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.18	0.54934	T	0.043	0.21573	B	0.011	0.15521	B	.	.	.	.	0.999994	0.08975	N	1.715	0.44382	L	2.65	0.12676	T	-1.58	0.38151	N	0.218	0.24385	-1.0538	0.13359	T	0.023	0.09878	T	9	0.11167851	0.20920	T	0.006731	0.17784	T	0.051	0.14325	0.383	0.40134	0.134007934775	0.12933	0.5585139792387334	0.55778	1.00237348674	0.74455	0.493125855923	0.37872	T	0.051662	0.28944	T	-0.265263	0.12291	T	-0.416155	0.31517	T	0.348654270172119	0.26966	T	0.752925	0.37500	T	.	.	.	.	.	.	.	.	-4.239	0.27313	T	.	.	0.262	0.49616	B	.;.;.;.;.;.	.;.;.;.;.;.	4.171386	0.62719	24.5	0.99710936366329461	0.81353	0.21167	0.21305	N	AEFDBCI	0.105780	0.21126	N	-0.41012166204321	0.25114	1.360903	-0.315940761979142	0.27583	1.531629	0.990907378749474	0.32307	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.05	4.05	0.46415	3.067000	0.49706	7.441000	0.58873	0.596000	0.33519	0.034000	0.20669	0.994000	0.32194	0.019000	0.11356	0.0:0.8864:0.0:0.1136	7.877	0.28764	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1443.43	34	chr7	94664227	.	C	T	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.248;DP=429;ExcessHet=0;FS=4.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.65;SOR=0.385	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,987	9	0	1	0
chr7	95203710	95203712	AAT	-	exonic	PPP1R9A	.	nonframeshift deletion	PPP1R9A:NM_001166160:exon7:c.1936_1938del:p.N648del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0	0	0	0	0.0003	0.0045	0.0023	0.0001423	22	154602	rs771879691	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	6.337e-05	8.429e-05	0	0	0	0.0016	1.577e-05	0.0002	0.0023	9.854e-05	9.843e-05	6.426e-05	0.0001	0.0019	6.005e-05	4.879e-05	0.0010	0.0007	0	0	0	0	0	0	0.0068	4.412e-05	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1387.39	34	chr7	95203709	.	CAAT	C	1387.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=405;ExcessHet=0;FS=4.054;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-2.049;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1071:.	9	0	1	0
chr7	95284095	95284095	T	C	exonic	PPP1R9A	.	nonsynonymous SNV	PPP1R9A:NM_001166161:exon15:c.T3254C:p.M1085T,PPP1R9A:NM_001166162:exon15:c.T3308C:p.M1103T,PPP1R9A:NM_001166160:exon17:c.T3374C:p.M1125T	.	429	1091	2	0	0	2	0.000915751	.	.	.	711200	not_provided|PPP1R9A-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.101	0.0144835210125	0.0076	0.00219649	0.0057	0.0015	0.0019	0	0.0036	0.0092	0.0034	0.0013	0.0055239	854	154602	rs117573976	0.0091	0.0091	0.0095	0.0088	0.0109	0.0090	0.0089	0.0108	0.0107	0.0010	0.0031	0.0019	0	0.0049	0.0017	0.0109	0.0081	0.0013	0.0053	0.0053	0.0055	0.0050	0.0088	0.0050	0.0049	0.0082	0.0079	0.0014	0	0.0058	0.0017	0.0002	0.0044	0	0.0088	0.0033	0.0004	0.001	0.78490	D	0.035	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.4	0.15843	T	-2.37	0.54864	N	0.285	0.39760	-1.0493	0.14593	T	0.020	0.08266	T	9	0.007053435	0.00160	T	0.014484	0.34624	T	0.101	0.28911	.	.	0.31291088546	0.30898	0.2968393850924641	0.29596	0.221745772331	0.24710	0.442933440208	0.30979	T	.	.	.	-0.541011	0.00330	T	-0.542795	0.18023	T	0.0287728413600755	0.01803	T	0.554445	0.19192	T	.	.	.	.	.	.	.	.	-0.761	0.01818	T	.	.	0.277	0.58803	B	.;.;.;.	.;.;.;.	3.417908	0.47442	22.5	0.94411546735286067	0.24810	0.97257	0.73623	D	AEFBI	0.651074	0.62495	D	-0.136208238478353	0.35824	2.062627	0.0537676078992911	0.42254	2.552576	0.99812091106589	0.36460	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.620846	0.47308	0	.	.	4.4	4.4	0.52402	4.487000	0.60022	4.003000	0.41092	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.711000	0.34484	0.0:0.0:0.0:1.0	14.697	0.68742	844	0.36711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2012.43	33	chr7	95284095	.	T	C	2012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.734;DP=523;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=1.28;SOR=0.557	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	9	0	1	0
chr7	95372278	95372278	T	C	exonic	PON3	.	nonsynonymous SNV	PON3:NM_000940:exon4:c.A262G:p.M88V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00735743752314	0.0010	0.000399361	0.0009	0	0	0	0	0.0016	0	0.0003	0.0008926	138	154602	rs78883915	0.0008	0.0008	0.0008	0.0009	0.0017	0.0008	0.0008	0.0009	0.0007	2.987e-05	0.0002	0.0173	0	3.745e-05	0.0017	0.0006	0.0016	0.0003	0.0008	0.0008	0.0010	0.0006	0.0008	0.0007	0.0007	0.0007	0.0006	2.404e-05	0	0.0002	0.0176	0	0	0.0034	0.0008	0.0019	0	0.016	0.51853	D	0.142	0.35710	T	0.019	0.17989	B	0.007	0.12992	B	0.000006	0.62929	D	0.112377	1	0.81001	D	2.315	0.66250	M	2.5	0.14408	T	-2.39	0.52612	N	0.167	0.17691	-1.0797	0.07407	T	0.035	0.15117	T	10	0.0073266327	0.00167	T	0.007357	0.19523	T	0.107	0.30369	.	.	0.236278675362	0.23226	0.528582759772043	0.52782	0.0537011207665	0.05932	.	.	.	0.047226	0.31249	T	-0.52635	0.00404	T	-0.553469	0.16994	T	0.049477466598117	0.05407	T	0.815918	0.47089	T	0.33218545	0.55649	0.34408203	0.60110	0.33218545	0.55649	0.34408203	0.60109	-4.147	0.25980	T	.	.	0.110	0.23077	B	.;.;.	.;.;.	1.886097	0.23959	16.22	0.9724767235935744	0.33029	0.82333	0.41576	D	AEFI	0.743571	0.68683	D	-0.141185248096333	0.35611	2.047668	-0.0327001022340688	0.38248	2.250676	0.0011121357996498	0.08239	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.82	3.67	0.41236	1.750000	0.37956	2.198000	0.31263	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1505:0.081:0.0:0.7685	5.649	0.16880	882	0.29131	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1217.43	39	chr7	95372278	.	T	C	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=1.02;SOR=0.685	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1302	9	0	1	0
chr7	95592889	95592889	T	C	exonic	PDK4	.	nonsynonymous SNV	PDK4:NM_002612:exon4:c.A400G:p.M134V	.	437	1034	49	2	0	53	0.0249882	.	.	.	722756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.249	.	0.0033	0.00858626	0.0067	0.0013	0.0035	0.0001	0.0003	0.0069	0.0089	0.0174	0.0065394	1011	154602	rs144262262	0.0051	0.0051	0.0046	0.0056	0.0397	0.0050	0.0050	0.0355	0.0339	0.0015	0.0047	0.0445	0	0.0004	0.0397	0.0035	0.0081	0.0158	0.0049	0.0049	0.0048	0.0050	0.0161	0.0046	0.0045	0.0133	0.0122	0.0008	0.0077	0.0088	0.0450	0.0002	0.0008	0.0308	0.0044	0.0099	0.0161	0.076	0.34269	T	0.135	0.34124	T	0.565	0.38434	P	0.729	0.55225	P	0.000000	0.84330	D	0.033626	1	0.81001	D	2.135	0.59519	M	1.41	0.33412	T	-3.65	0.69950	D	0.838	0.83371	-0.9886	0.32953	T	0.091	0.34847	T	10	0.015191466	0.00319	T	.	.	.	0.249	0.55752	.	.	0.47290127212	0.46918	0.8276107065165884	0.82719	0.475302677234	0.46711	0.502338647842	0.39154	T	0.492506	0.81643	T	-0.218354	0.18219	T	-0.0734536	0.65379	T	0.0402720909980972	0.03740	T	0.962404	0.85901	D	0.7293651	0.79687	0.6762805	0.80990	0.7293651	0.79689	0.6762805	0.80990	-6.626	0.51251	T	.	.	0.178	0.38836	B	.	.	4.667868	0.74577	26.2	0.97712210610986427	0.35501	0.92415	0.55659	D	AEFGBCI	0.911945	0.87192	D	0.518253502972479	0.68171	5.180456	0.563569092563689	0.72348	5.795517	0.999999999249284	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.54	5.54	0.82907	6.221000	0.72188	7.885000	0.72726	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.992	0.80010	889	0.27310	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025680	0.025253	0.016304	0.070175	0.000000	0.068966	0.009146	0.011364	0.05	1344.43	36	chr7	95592889	.	T	C	1344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.362;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.16;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1384	9	0	1	0
chr7	97009871	97009871	G	C	exonic	DLX6	.	nonsynonymous SNV	DLX6:NM_005222:exon3:c.G706C:p.D236H	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.0873183123038	.	.	3.32e-05	0.0001	0	0	0	1.503e-05	0.0022	0	2.59e-05	4	154602	rs778865296	8.21e-06	8.209e-06	2.723e-06	1.375e-05	0.0002	4.38e-06	3.46e-06	3.85e-06	1.44e-06	0	0	0	0	1.873e-05	0.0002	4.497e-06	4.969e-05	2.319e-05	6.567e-06	1.312e-05	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.431	0.17821	T	0.029	0.54541	D	.	.	.	.	.	.	0.000002	0.62929	D	0.131604	1	0.81001	D	.	.	.	-2.85	0.91363	D	-3.09	0.64246	D	0.325	0.56833	0.544	0.91153	D	0.806	0.93450	D	10	0.33623612	0.50767	T	0.087318	0.74912	D	0.481	0.77142	0.212	0.13066	0.683361847445	0.68066	0.5741661920938673	0.57345	1.72559754066	0.90647	0.75704407692	0.75490	T	0.024963	0.18762	T	0.0932867	0.63557	D	-0.0401307	0.67692	D	0.988691926002502	0.78995	D	0.921608	0.72088	D	.	.	.	.	.	.	.	.	-13.112	0.89818	D	.	.	0.620	0.69690	P	.;.	.;.	4.980708	0.82498	27.8	0.99556063098952685	0.71459	0.96373	0.68821	D	AEFDBHCI	0.939735	0.94073	D	0.725129506815512	0.81280	7.48528	0.739172407432315	0.85347	8.553119	0.999999999998267	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.76	5.76	0.90726	7.943000	0.87192	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0:0.0:1.0:0.0	19.974	0.97297	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	34	chr7	97009871	.	G	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=417;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=0.181;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1177	9	0	1	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	157.52	137	chr7	97990042	.	A	C	157.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.736;DP=895;ExcessHet=0;FS=72.408;InbreedingCoeff=-0.143;MLEAC=1;MLEAF=0.071;MQ=59.89;MQRankSum=0;QD=1.15;ReadPosRankSum=1.38;SOR=5.281	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	6	0	1	3
chr7	98617646	98617646	C	T	exonic	NPTX2	.	nonsynonymous SNV	NPTX2:NM_002523:exon1:c.C185T:p.A62V	.	424	1045	49	4	0	57	0.0265487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	.	0.00798722	0.0260	0	0.0147	0.0081	.	0.0143	0	0.0316	0.0027749	429	154602	rs115375965	0.0085	0.0080	0.0080	0.0090	0.0232	0.0083	0.0083	0.0223	0.0219	0.0071	0.0047	0.0131	0.0006	0.0072	0.0105	0.0077	0.0086	0.0232	0.0077	0.0077	0.0082	0.0073	0.0190	0.0073	0.0072	0.0159	0.0147	0.0082	0	0.0042	0.0144	0.0004	0.0061	0.0068	0.0081	0.0057	0.0190	0.003	0.68238	D	0.006	0.70582	D	0.226	0.30455	B	0.028	0.21332	B	.	.	.	.	0.995788	0.42855	D	1.39	0.34934	L	2.92	0.09915	T	-0.85	0.23156	N	0.061	0.03283	-1.0495	0.14537	T	0.007	0.02282	T	9	0.0047870874	0.00101	T	.	.	.	0.049	0.13647	.	.	.	.	0.6093709741241436	0.60869	0.410542690143	0.41835	0.919665932655	0.98298	D	0.264746	0.63655	T	-0.536404	0.00352	T	-0.524359	0.19854	T	0.0290008586872364	0.01838	T	0.950605	0.81072	D	0.30948555	0.53742	0.30403122	0.56432	0.30948555	0.53742	0.30403122	0.56431	-5.498	0.41849	T	.	.	0.156	0.34449	B	.	.	4.400750	0.67996	25.2	0.99822509836095696	0.90502	0.82763	0.41947	D	AEFDBHCIJ	0.743947	0.68709	D	-0.0570587939901521	0.39287	2.314396	0.0573941244764255	0.42430	2.566248	0.999999999999999	0.74766	0.789315	0.99827	0	0.547309	0.14657	0	0.768056	0.98339	0	0.63947	0.58350	0	.	.	4.53	4.53	0.55009	5.599000	0.67280	7.331000	0.58204	0.533000	0.24879	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.228	0.82137	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009639	0.013889	0.000000	0.004464	0.000000	0.000000	0.021127	0.021277	0.05	500.43	34	chr7	98617646	.	C	T	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=314;ExcessHet=0;FS=1.149;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.154;SOR=0.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,886	9	0	1	0
chr7	98851600	98851600	C	T	exonic	TMEM130	.	nonsynonymous SNV	TMEM130:NM_001134451:exon5:c.G521A:p.R174H,TMEM130:NM_001134450:exon6:c.G827A:p.R276H,TMEM130:NM_152913:exon6:c.G827A:p.R276H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00994330630132	0.0002	0.00139776	0.0002	0.0004	0.0002	0.0021	0	6.689e-05	0	0	0.0002135	33	154602	rs144982521	6.641e-05	6.772e-05	5.993e-05	7.295e-05	0.0006	5.566e-05	5.156e-05	0.0004	0.0003	0.0006	6.733e-05	0	0.0006	1.874e-05	0	3.779e-05	8.284e-05	3.482e-05	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0008	0.0006	0.0003	0	0.0003	0	0.0015	0	0	1.47e-05	0	0	0.208	0.19782	T	0.161	0.31629	T	0.994	0.66517	D	0.736	0.55529	P	0.013465	0.28831	N	0.356150	0.968851	0.26541	N	1.95	0.52479	M	2.45	0.15028	T	-0.63	0.24676	N	0.272	0.35514	-1.0738	0.08598	T	0.037	0.16073	T	10	0.018326253	0.00398	T	0.009943	0.25878	T	0.053	0.14996	.	.	0.19670166235	0.19296	0.4283844789094266	0.42755	0.723985850288	0.62362	0.328013300896	0.14633	T	0.064366	0.32416	T	-0.567818	0.00228	T	-0.595192	0.13218	T	0.0429850626755425	0.04234	T	0.770923	0.40135	T	0.09101228	0.21314	0.095538504	0.22664	0.09101228	0.21314	0.095538504	0.22664	-6.157	0.48888	T	.	.	0.082	0.11269	B	.;.;.;.	.;.;.;.	3.151352	0.42657	21.6	0.9988722818572815	0.96204	0.39212	0.26162	N	AEFDBI	0.171086	0.29803	N	0.0424451264410877	0.43796	2.665564	0.0111949822937072	0.40235	2.398	0.0193871256619733	0.13157	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.5	2.85	0.32333	1.481000	0.35083	0.298000	0.16948	-0.193000	0.09282	0.853000	0.30494	0.014000	0.20376	0.980000	0.58198	0.6289:0.3711:0.0:0.0	11.749	0.51106	510	0.75209	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	977.43	35	chr7	98851600	.	C	T	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.32;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.8;SOR=0.832	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1230	9	0	1	0
chr7	99499708	99499708	G	C	exonic	ZNF394	.	nonsynonymous SNV	ZNF394:NM_001345967:exon1:c.C386G:p.P129R,ZNF394:NM_001345968:exon1:c.C386G:p.P129R,ZNF394:NM_032164:exon1:c.C386G:p.P129R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00610590013775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.91255	D	0.014	0.92824	D	0.952	0.54136	P	0.73	0.55268	P	0.116511	0.19190	N	0.447011	0.999993	0.27486	N	3.78	0.95251	H	3.08	0.08460	T	-6.99	0.98093	D	0.452	0.52740	-0.9875	0.33224	T	0.080	0.31615	T	10	0.67041683	0.70679	D	0.006106	0.15964	T	0.158	0.41098	0.737	0.86978	0.422404719673	0.41854	.	.	1.00788437402	0.74654	0.426312506199	0.28705	T	0.242066	0.61073	T	0.0145252	0.53639	T	-0.216912	0.53033	T	0.869294285774231	0.51923	D	0.955504	0.84151	D	0.45304704	0.64234	0.550116	0.73988	0.45304704	0.64234	0.550116	0.73989	-13.782	0.94879	D	.	.	0.66	0.76537	P	.;.	.;.	4.457520	0.69343	25.4	0.99733312831901688	0.82904	0.15941	0.19155	N	AEFDGBHCI	0.086517	0.17542	N	0.247241065685573	0.53501	3.518821	0.0501381212987775	0.42077	2.538915	0.999999993044839	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.98	3.07	0.34476	2.408000	0.44227	6.920000	0.56926	0.676000	0.76740	0.978000	0.35038	1.000000	0.68203	0.992000	0.67800	0.0:0.213:0.787:0.0	9.622	0.38891	329	0.86514	SCAN domain|SCAN domain|SCAN domain|SCAN domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5245.12	33	chr7	99499708	.	G	C	5245.12	.	AC=2;AF=0.1;AN=20;DP=522;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.98;SOR=0.773	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	1	0	0
chr7	99767244	99767244	G	A	exonic	CYP3A4	.	nonsynonymous SNV	CYP3A4:NM_001202855:exon8:c.C682T:p.L228F,CYP3A4:NM_017460:exon8:c.C685T:p.L229F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.024479688708	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1435412522	6.962e-06	8.209e-06	4.153e-06	9.804e-06	0.0002	3.52e-06	2.57e-06	1.657e-05	9.79e-06	0	0	0	2.549e-05	0	0.0002	2.717e-06	1.69e-05	4.955e-05	6.574e-06	6.568e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.086	0.38863	T	0.054	0.47097	T	0.394	0.34702	B	0.213	0.37437	B	0.009185	0.30475	N	0.341387	0.999084	0.46032	D	2.525	0.73725	M	-0.51	0.70597	T	-3.6	0.69357	D	0.11	0.10056	-0.3075	0.74775	T	0.409	0.75768	T	10	0.10977647	0.20492	T	0.02448	0.47468	T	0.214	0.50650	0.562	0.68229	0.556383890621	0.55297	.	.	0.373761606548	0.38841	0.365618467331	0.20201	T	0.082075	0.79281	T	-0.192126	0.21947	T	-0.398798	0.33525	T	0.525432586669922	0.33565	D	0.869013	0.57273	D	0.45177105	0.64153	0.6051217	0.77047	0.45177105	0.64154	0.6051217	0.77048	-9.476	0.70710	D	.	.	0.168	0.36889	B	.;.	.;.	1.876629	0.23837	16.17	0.95611759940832253	0.27366	0.14457	0.18413	N	AEFBI	0.354818	0.44676	N	-0.639190598497146	0.17776	0.9175772	-0.715351046225058	0.16579	0.8776835	0.449018607598362	0.20523	0.553676	0.25195	0	0.624146	0.53433	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.03	2.0	0.25495	0.219000	0.17426	1.500000	0.26949	-0.106000	0.15538	0.095000	0.22689	0.909000	0.28100	0.039000	0.14166	0.0:0.0:0.6426:0.3574	10.170	0.42082	126	0.94940	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	442.43	33	chr7	99767244	.	G	A	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=351;ExcessHet=0;FS=3.249;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-2.225;SOR=1.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1029	9	0	1	0
chr7	99876156	99876156	T	C	exonic	OR2AE1	.	nonsynonymous SNV	OR2AE1:NM_001005276:exon1:c.A878G:p.N293S	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0116056588354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.997	0.70673	D	0.97	0.72226	D	0.000965	0.40836	D	0.000000	0.993886	0.23629	N	1.87	0.49600	L	1.05	0.39990	T	-4.42	0.77470	D	0.194	0.21319	-1.0027	0.29139	T	0.144	0.46750	T	10	0.29698682	0.47261	T	0.011606	0.29407	T	0.147	0.38986	0.581	0.70733	0.460703734027	0.45695	0.05384234859153853	0.05326	0.255586824059	0.28147	0.215485006571	0.01065	T	0.007404	0.06808	T	-0.171536	0.25002	T	-0.484176	0.24004	T	0.976575434207916	0.71442	D	0.950005	0.80823	D	0.7637946	0.81678	0.6924786	0.81900	0.7637946	0.81679	0.6924786	0.81901	-7.415	0.57010	T	.	.	0.159	0.35140	B	.	.	3.218519	0.43840	21.8	0.99771369740652638	0.85918	0.67631	0.33503	D	AEDBCI	0.252156	0.37189	N	0.165620274938772	0.49554	3.154477	0.0857243846247857	0.43830	2.676665	7.94876718001517E-5	0.04552	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.56	3.56	0.39892	1.040000	0.29888	3.304000	0.37407	0.575000	0.29119	0.053000	0.21524	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	10.720	0.45234	174	0.93268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1684.43	126	chr7	99876156	.	T	C	1684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.524;DP=441;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.616;SOR=0.481	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1285	9	0	1	0
chr7	99876805	99876805	T	C	exonic	OR2AE1	.	nonsynonymous SNV	OR2AE1:NM_001005276:exon1:c.A229G:p.I77V	.	428	1091	3	0	0	3	0.001373	.	.	.	2758180	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0022912183064	7.7e-05	.	0.0004	0	8.637e-05	0	0	0.0004	0.0022	0.0007	0.0002911	45	154602	rs140190815	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0009	0.0007	0	0	0.0014	0	3.744e-05	0.0017	0.0001	0.0003	0.0009	0.0001	0.0001	0.0001	0.0002	0.0004	9.755e-05	8.268e-05	0.0001	8.883e-05	0	0	0	0.0017	0	9.466e-05	0	0.0002	0	0.0004	0.217	0.19157	T	0.369	0.16522	T	0.0	0.02946	B	0.0	0.01387	B	0.000891	0.41231	D	0.000000	1	0.08975	N	0.895	0.22405	L	6.23	0.00568	T	0.02	0.06739	N	0.018	0.00252	-0.8987	0.48125	T	0.002	0.00497	T	10	0.0116354525	0.00253	T	0.002291	0.04397	T	0.035	0.08770	.	.	0.12205267543	0.11705	0.047595889985188704	0.04702	0.0337626008877	0.03542	0.317682445049	0.13069	T	1.78E-4	0.00028	T	-0.626735	0.00100	T	-0.773875	0.02643	T	0.0591557821648618	0.07034	T	0.644036	0.25562	T	0.047725577	0.08205	0.04742206	0.06826	0.047725577	0.08204	0.04742206	0.06826	-3.928	0.22723	T	.	.	0.080	0.07937	B	.	.	1.284547	0.16845	12.80	0.65438101471371335	0.07772	0.27032	0.23163	N	AEFDGBHCI	0.073847	0.14783	N	-1.14103553689941	0.05929	0.271597	-1.17642319616828	0.06306	0.3030888	0.999999083257723	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.547309	0.15389	0	0.478617	0.07155	0	.	.	3.63	1.19	0.20120	0.280000	0.18550	1.730000	0.28322	-0.217000	0.08171	0.000000	0.06391	0.979000	0.30280	0.007000	0.07825	0.1776:0.1044:0.0:0.718	4.268	0.10218	174	0.93268	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1914.43	43	chr7	99876805	.	T	C	1914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.149;DP=516;ExcessHet=0;FS=0.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=0.15;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	9	0	1	0
chr7	100029881	100029881	C	G	exonic	ZKSCAN1	.	nonsynonymous SNV	ZKSCAN1:NM_001346579:exon4:c.C601G:p.P201A,ZKSCAN1:NM_003439:exon4:c.C601G:p.P201A,ZKSCAN1:NM_001346580:exon5:c.C493G:p.P165A,ZKSCAN1:NM_001346581:exon5:c.C601G:p.P201A,ZKSCAN1:NM_001287054:exon6:c.C493G:p.P165A	.	424	1052	44	2	0	48	0.0223048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	.	0.0059	0.00519169	0.0063	0.0009	0.0035	0	0.0011	0.0083	0.0077	0.0091	0.0062677	969	154602	rs148669042	0.0080	0.0080	0.0077	0.0083	0.0269	0.0079	0.0079	0.0234	0.0221	0.0011	0.0040	0.0220	5.038e-05	0.0011	0.0269	0.0082	0.0093	0.0121	0.0055	0.0055	0.0060	0.0050	0.0133	0.0052	0.0051	0.0107	0.0097	0.0012	0.0011	0.0038	0.0141	0.0002	0.0007	0.0442	0.0086	0.0076	0.0133	0.011	0.55530	D	0.145	0.35970	T	0.99	0.63424	D	0.824	0.59271	P	0.003763	0.34511	N	0.134244	0.93483	0.81001	D	2.14	0.59869	M	3.14	0.08194	T	-2.82	0.61129	D	0.386	0.42737	-1.0091	0.27198	T	0.016	0.06711	T	10	0.005372405	0.00118	T	.	.	.	0.112	0.31546	.	.	0.415459976574	0.41164	0.15639711510048188	0.15560	0.474146516114	0.46608	0.420085132122	0.27848	T	0.216012	0.57806	T	-0.535217	0.00358	T	-0.533617	0.18927	T	0.0379089392025617	0.03317	T	0.79512	0.43772	T	0.06449126	0.13687	0.07915261	0.17794	0.06449126	0.13687	0.07915261	0.17793	-7.57	0.58101	D	.	.	0.092	0.21315	B	.;.;.	.;.;.	3.067730	0.41219	21.3	0.99258197341911825	0.57121	0.63428	0.32086	D	AEFDBIJ	0.102707	0.20596	N	0.0266498543013345	0.43068	2.60718	0.00231240024793541	0.39823	2.367091	0.999999968925059	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.33	4.45	0.53365	0.767000	0.26238	2.758000	0.34584	0.599000	0.40250	0.244000	0.24789	1.000000	0.68203	0.043000	0.14563	0.0:0.9107:0.0:0.0893	11.028	0.46973	121	0.95159	.;.;.	.	.	.	.	rs148669042	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023666	0.010101	0.024457	0.032164	0.000000	0.034483	0.021341	0.022727	0.05	1591.43	34	chr7	100029881	.	C	G	1591.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-1.028;SOR=0.689	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1603,0,1320	9	0	1	0
chr7	100098624	100098624	C	T	exonic	MCM7	.	nonsynonymous SNV	MCM7:NM_001278595:exon5:c.G146A:p.R49Q,MCM7:NM_182776:exon5:c.G146A:p.R49Q,MCM7:NM_005916:exon6:c.G674A:p.R225Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0109383014801	.	0.000599042	0.0002	0	0	0	0	5.994e-05	0	0.0015	0.0002135	33	154602	rs146605550	0.0001	0.0001	8.303e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0.0001	3.826e-05	0	0	0.0002	2.158e-05	0.0001	0.0018	0.0001	0.0001	7.711e-05	0.0002	0.0012	7.574e-05	6.279e-05	0.0005	0.0004	2.407e-05	0	0.0003	0	0	0	0	7.35e-05	0.0005	0.0012	0.002	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.24	0.89678	M	3.65	0.04267	T	-3.37	0.69835	D	0.709	0.71232	-1.1809	0.00356	T	0.053	0.22655	T	10	0.041270673	0.02767	T	0.010938	0.28041	T	0.233	0.53499	.	.	0.54456359225	0.54111	0.47394988494713836	0.47313	0.600637925013	0.55139	0.707589626312	0.68244	T	0.414452	0.76800	T	-0.255197	0.13467	T	-0.15258	0.59013	T	0.310344457626343	0.25428	T	0.973703	0.91107	D	0.7951421	0.83597	0.8233885	0.89756	0.7951421	0.83599	0.8233885	0.89757	-11.994	0.88803	D	0.6816343820813098	0.75810	0.547	0.78676	A	.;.;.;.;.	.;.;.;.;.	5.553289	0.92073	32	0.99955008312140581	0.99969	0.89552	0.50089	D	AEFBHCI	0.714252	0.66679	D	0.724052164749639	0.81208	7.46893	0.670023867127301	0.80110	7.226426	0.999999999999887	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.97	4.97	0.65419	5.428000	0.66226	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	15.784	0.78060	187	0.92701	.;.;.;MCM OB domain;MCM OB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2143.43	35	chr7	100098624	.	C	T	2143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.97;DP=549;ExcessHet=0;FS=1.158;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.702;SOR=0.796	GT:AD:DP:GQ:PL	0/1:85,94:179:99:2155,0,1751	9	0	1	0
chr7	100118437	100118437	T	C	exonic	TAF6	.	nonsynonymous SNV	TAF6:NM_001365004:exon2:c.A38G:p.Q13R	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	31.36	1	chr7	100118437	.	T	C	31.36	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=12;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=7.84;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,128	4	0	1	5
chr7	100173918	100173918	A	G	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon5:c.T809C:p.M270T	.	425	1087	10	0	0	10	0.00457875	.	.	.	2675513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.0182527814312	0.0002	.	0.0003	0	0.0007	0	0.0002	0.0003	0.0011	0	0.000207	32	154602	rs199810091	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0.0010	0	1.876e-05	0.0019	0.0001	0.0003	0.0001	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0	0	0.0003	0.0012	0	9.416e-05	0.0102	0.0002	0	0	0.025	0.47320	D	0.23	0.25135	T	0.037	0.20876	B	0.03	0.21741	B	0.806378	0.06800	N	1.094290	1	0.08975	N	1.7	0.43825	L	0.81	0.48460	T	-0.93	0.24898	N	0.278	0.31478	-0.9836	0.34164	T	0.082	0.32178	T	10	0.041591376	0.02828	T	0.018253	0.40250	T	0.028	0.06331	.	.	0.136095386433	0.13204	0.25809384976511984	0.25723	0.385980496119	0.39890	0.395523667336	0.24445	T	0.129206	0.45735	T	-0.404977	0.02147	T	-0.487434	0.23659	T	0.010684724201195	0.00150	T	0.409559	0.10569	T	0.12205149	0.28689	0.112317055	0.27100	0.12205149	0.28689	0.112317055	0.27099	-1.892	0.02798	T	.	.	0.091	0.13032	B	.	.	1.914630	0.24320	16.35	0.63200447522113445	0.07161	0.04331	0.09890	N	AEFDBCI	0.035073	0.04452	N	-1.07710849372717	0.07067	0.3271935	-1.09424962846216	0.07812	0.3815308	0.506737191593842	0.20987	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.92	-1.52	0.08181	0.717000	0.25523	2.542000	0.33220	-0.121000	0.13915	0.028000	0.20300	0.568000	0.25556	0.638000	0.32368	0.14:0.3378:0.3966:0.1257	3.249	0.06406	283	0.88803	Glypican, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1644.43	34	chr7	100173918	.	A	G	1644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.711;DP=428;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.43;SOR=0.514	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,19:89:99:0|1:100175805_G_C:327,0,2442:100175805	0	0	10	0
chr7	100220255	100220255	C	T	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon3:c.C260T:p.T87M	.	419	1058	42	3	0	48	0.0221811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0056	0.00539137	0.0118	0.0024	0.0084	0	0.0065	0.0159	0.0040	0.0115	0.0050905	787	154602	rs141119008	0.0082	0.0081	0.0079	0.0085	0.0206	0.0081	0.0080	0.0174	0.0162	0.0012	0.0038	0.0220	5.337e-05	0.0012	0.0206	0.0084	0.0097	0.0126	0.0054	0.0054	0.0059	0.0048	0.0130	0.0051	0.0050	0.0105	0.0095	0.0011	0.0011	0.0033	0.0141	0.0002	0.0007	0.0408	0.0085	0.0071	0.0130	0.02	0.49613	D	0.072	0.43344	T	0.423	0.35444	B	0.131	0.32951	B	.	.	.	.	0.999992	0.08975	N	0.345	0.11182	N	0.86	0.46777	T	-1.6	0.38540	N	0.186	0.20262	-1.0587	0.12083	T	0.038	0.16376	T	9	0.0037819445	0.00071	T	.	.	.	0.024	0.04979	.	.	0.126345400529	0.12197	0.4692787638282187	0.46846	0.127832058936	0.14418	0.452407717705	0.32272	T	0.007966	0.07338	T	-0.617701	0.00114	T	-0.649673	0.08977	T	0.0105413282560264	0.00146	T	0.276672	0.04749	T	0.026393538	0.01691	0.061903115	0.12027	0.026393538	0.01691	0.061903115	0.12027	-6.774	0.52365	T	.	.	0.113	0.22318	B	.	.	-0.969443	0.00816	0.027	0.87147751602030721	0.17021	0.02800	0.07520	N	AEFDBCIJ	0.029109	0.02687	N	-1.63495431186654	0.01100	0.04775162	-1.77743499817207	0.00834	0.03725871	0.99999982209636	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.696353	0.63694	0	0.508809	0.08732	0	.	.	2.78	-5.57	0.02321	-4.778000	0.00217	-3.665000	0.02620	-1.816000	0.00606	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.3123:0.3941:0.162:0.1317	1.981	0.03217	290	0.88477	.	.	.	.	.	rs141119008	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025484	0.010417	0.025886	0.032353	0.000000	0.034483	0.028302	0.019084	0.05	1149.43	44	chr7	100220255	.	C	T	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.738;DP=420;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.75;MQRankSum=1.63;QD=19.16;ReadPosRankSum=0.107;SOR=0.493	GT:AD:DP:GQ:PL	0/1:17,43:60:99:1161,0,299	9	0	1	0
chr7	100221247	100221247	G	A	exonic	PVRIG	.	nonsynonymous SNV	PVRIG:NM_024070:exon6:c.G977A:p.R326Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00407832681432	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs970282144	9.921e-06	1.3e-05	8.412e-06	1.146e-05	0.0002	5.76e-06	4.5e-06	4.64e-06	3.38e-06	3.09e-05	2.537e-05	0	2.554e-05	0	0.0002	9.177e-06	0	0	4.599e-05	4.597e-05	6.423e-05	2.69e-05	7.238e-05	2.109e-05	1.527e-05	1.919e-05	1.032e-05	7.238e-05	0	6.539e-05	0	0	0	0	4.41e-05	0	0	0.204	0.20078	T	0.192	0.28300	T	0.017	0.17573	B	0.004	0.10090	B	.	.	.	.	0.999996	0.08975	N	0.46	0.12951	N	0.69	0.51714	T	-0.09	0.08340	N	0.087	0.06454	-1.0541	0.13278	T	0.061	0.25346	T	9	0.03632778	0.01926	T	0.004078	0.09744	T	0.003	0.00094	.	.	0.262662153117	0.25859	0.07396910104862847	0.07333	0.090965276038	0.10271	0.354616850615	0.18600	T	0.007128	0.06547	T	-0.297193	0.08927	T	-0.664673	0.07955	T	0.0392781496355364	0.03561	T	0.485951	0.14839	T	0.019872122	0.00528	0.038927697	0.03869	0.019872122	0.00527	0.038927697	0.03869	-4.047	0.24504	T	.	.	0.124	0.26200	B	.	.	-0.641632	0.01462	0.089	0.97733093385380154	0.35634	0.01077	0.03980	N	ALL	0.031430	0.03361	N	-1.58639027300836	0.01334	0.0581045	-1.70877385509347	0.01099	0.04937975	0.999999999999987	0.74766	0.615465	0.37627	0	0.52208	0.09955	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	2.65	-5.31	0.02519	-1.622000	0.02145	-1.740000	0.04813	-0.493000	0.05040	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.6659:0.1512:0.183:0.0	6.701	0.22413	289	0.88525	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1490.43	116	chr7	100221247	.	G	A	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=637;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-0.108;SOR=0.73	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	9	0	1	0
chr7	100553435	100553435	C	G	exonic	AGFG2	.	nonsynonymous SNV	AGFG2:NM_006076:exon4:c.C520G:p.P174A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.016091638665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-06	4.788e-06	6.806e-06	2.75e-06	0.0003	1.99e-06	1.28e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.994	0.82059	D	0.000075	0.52346	N	0.172193	0.805194	0.81001	D	2.975	0.85398	M	1.65	0.27650	T	-6.02	0.89684	D	0.219	0.24510	-0.8816	0.49634	T	0.163	0.49864	T	10	0.30075783	0.47621	T	0.016092	0.37172	T	0.148	0.39182	.	.	0.495839474393	0.49220	0.5074669165356606	0.50668	0.391350056189	0.40338	0.425648927689	0.28613	T	0.134365	0.46557	T	-0.187997	0.22554	T	-0.507821	0.21539	T	0.985331416130066	0.76359	D	0.918808	0.70803	D	0.21701206	0.44174	0.25080892	0.50679	0.21701206	0.44174	0.25080892	0.50678	-8.795	0.66368	D	.	.	0.069	0.03162	B	.	.	3.215591	0.43793	21.8	0.99484861258174428	0.67124	0.82599	0.41804	D	AEFBHCI	0.151520	0.27602	N	0.440081262901289	0.63642	4.602006	0.355776246646838	0.58855	4.058958	0.999075858364183	0.38370	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.06	3.17	0.35510	2.061000	0.41030	1.353000	0.25823	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.966000	0.53164	0.156:0.6934:0.1505:0.0	9.966	0.40894	689	0.59000	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2031.14	34	chr7	100553435	.	C	G	2031.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.926;DP=440;ExcessHet=0.2348;FS=0.603;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.317;SOR=0.756	GT:AD:DP:GQ:PL	0/1:33,56:89:99:1323,0,703	8	0	2	0
chr7	100578739	100578739	C	T	exonic	LRCH4	.	nonsynonymous SNV	LRCH4:NM_001289934:exon5:c.G646A:p.V216I,LRCH4:NM_002319:exon5:c.G646A:p.V216I	.	415	1068	36	3	0	42	0.0192837	.	.	.	722191	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0061	0.00539137	0.0065	0.0012	0.0045	0.0005	0.0011	0.0083	0.0067	0.0095	0.0065458	1012	154602	rs52833865	0.0082	0.0082	0.0079	0.0086	0.0183	0.0081	0.0081	0.0154	0.0144	0.0011	0.0046	0.0272	0.0005	0.0011	0.0183	0.0083	0.0101	0.0119	0.0056	0.0056	0.0061	0.0051	0.0112	0.0053	0.0052	0.0088	0.0079	0.0012	0	0.0045	0.0182	0.0008	0.0007	0.0240	0.0086	0.0071	0.0112	0.674	0.04508	T	0.97	0.02484	T	0.005	0.12996	B	0.015	0.17295	B	0.005035	0.33162	N	0.284157	1	0.81001	D	-1.16	0.00885	N	1.6	0.28604	T	-0.17	0.09627	N	0.174	0.18649	-1.0099	0.26949	T	0.013	0.05033	T	9	0.0044373274	0.00091	T	.	.	.	0.016	0.02506	.	.	0.192905019026	0.18896	0.4818438412615061	0.48104	0.508704530814	0.49020	0.35497829318	0.18653	T	0.032921	0.22695	T	-0.691137	0.00041	T	-0.756152	0.03253	T	0.00214425450445367	0.00022	T	0.80342	0.45053	T	0.010749503	0.00010	0.02109572	0.00173	0.010749503	0.00010	0.02109572	0.00173	-8.727	0.65923	D	.	.	0.069	0.03026	B	.	.	0.199449	0.05846	2.285	0.71578719883934938	0.09677	0.18084	0.20113	N	AEFBCI	0.073505	0.14704	N	-1.13517341753917	0.06028	0.2763963	-0.977898119563235	0.10282	0.5168703	0.98300840906797	0.30489	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.66	0.518	0.16228	-0.228000	0.09119	0.830000	0.21939	-0.873000	0.02525	0.000000	0.06391	0.943000	0.28828	0.864000	0.41028	0.0:0.6194:0.0:0.3806	8.271	0.31002	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017120	0.005051	0.021739	0.005882	0.000000	0.043103	0.018293	0.018939	0.05	800.43	33	chr7	100578739	.	C	T	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=2.4;SOR=0.78	GT:AD:DP:GQ:PL	0/1:36,32:68:99:812,0,831	9	0	1	0
chr7	100608080	100608080	C	T	exonic	PCOLCE	.	nonsynonymous SNV	PCOLCE:NM_002593:exon9:c.C1327T:p.R443W	.	424	1092	6	0	0	6	0.00273973	.	.	.	3214355	PCOLCE-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.027	0.0121797643873	0.0049	0.00319489	0.0053	0.0010	0.0023	0	0.0018	0.0080	0.0090	0.0032	0.0052263	808	154602	rs117595600	0.0062	0.0062	0.0063	0.0061	0.0067	0.0061	0.0061	0.0066	0.0065	0.0009	0.0033	0.0256	7.557e-05	0.0015	0.0066	0.0067	0.0068	0.0030	0.0050	0.0050	0.0052	0.0048	0.0070	0.0047	0.0046	0.0064	0.0062	0.0013	0.0066	0.0061	0.0265	0.0006	0.0013	0.0136	0.0070	0.0052	0.0031	0.035	0.43708	D	0.028	0.54934	D	0.875	0.48103	P	0.12	0.32230	B	0.109845	0.02628	N	2.231400	1	0.08975	N	0.69	0.16971	N	2.11	0.19860	T	-0.47	0.15178	N	0.272	0.30800	-1.0074	0.27727	T	0.013	0.05177	T	10	0.0029818416	0.00048	T	0.01218	0.30521	T	0.027	0.05988	.	.	0.082315109003	0.07666	0.48573178987946297	0.48493	0.57446744646	0.53476	0.236829832196	0.02512	T	0.058092	0.30747	T	-0.592175	0.00163	T	-0.618829	0.11277	T	0.0353263161615224	0.02863	T	0.822018	0.48145	T	0.040398005	0.05758	0.030600548	0.01537	0.040398005	0.05758	0.030600548	0.01537	-7.26	0.55911	T	.	.	0.189	0.40650	B	.	.	0.837857	0.12093	8.647	0.97639594448136346	0.35068	0.03669	0.08932	N	AEFBI	0.576937	0.57873	D	-1.02380896999537	0.08111	0.3792045	-1.18161781016971	0.06216	0.2985496	0.99935268551956	0.39259	0.706298	0.61202	0	0.659912	0.62753	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.31	-4.93	0.02839	-1.995000	0.01562	-1.483000	0.05337	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4384:0.2696:0.2162:0.0758	3.772	0.08167	693	0.58582	.	SRRT|AP4M1	Skin_Sun_Exposed_Lower_leg|Spleen	GIGYF1	Esophagus_Gastroesophageal_Junction	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.010101	0.005435	0.008772	0.000000	0.000000	0.006098	0.000000	0.05	1394.43	108	chr7	100608080	.	C	T	1394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=429;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.39;SOR=0.595	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1339	9	0	1	0
chr7	100751208	100751208	C	G	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon13:c.C1548G:p.S516R,ZAN:NM_173059:exon13:c.C1548G:p.S516R	.	430	1010	80	2	0	84	0.039924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0013	0.00459265	0.0058	0.0005	0.0020	0	0.0004	0.0027	0.0268	0.0286	0.0043078	666	154602	rs201142260	0.0026	0.0027	0.0018	0.0035	0.0262	0.0026	0.0025	0.0253	0.0249	0.0004	0.0011	0.0036	5.046e-05	0.0004	0.0192	0.0010	0.0036	0.0262	0.0021	0.0021	0.0014	0.0028	0.0270	0.0019	0.0018	0.0232	0.0218	0.0002	0	0.0017	0.0040	0	0.0007	0.0274	0.0016	0.0038	0.0270	.	.	.	0.008	0.67890	D	0.005	0.12996	B	0.008	0.13708	B	0.384634	0.04441	N	1.496520	1	0.08975	N	1.8	0.47472	L	4.45	0.02121	T	-2.3	0.51157	N	0.184	0.23125	-0.9240	0.44999	T	0.009	0.03448	T	10	0.00474146	0.00100	T	.	.	.	0.040	0.10527	0.594	0.72371	0.124217242631	0.12060	0.2111362059142021	0.21029	0.206476620277	0.23073	0.291453421116	0.09133	T	0.015962	0.13288	T	-0.437129	0.01344	T	-0.381758	0.35516	T	0.00894263022229421	0.00111	T	0.441056	0.12198	T	0.052750442	0.09883	0.06545608	0.13270	0.052750442	0.09883	0.06545608	0.13270	-3.859	0.21689	T	.	.	0.124	0.26138	B	.;.;.;.	.;.;.;.	0.704592	0.10733	7.424	0.98809529819632336	0.46590	0.06952	0.12979	N	AEFBI	0.069409	0.13736	N	-0.963840597858447	0.09384	0.4439173	-1.04830437396366	0.08743	0.4313272	1.4977826586808E-5	0.02871	0.06567	0.01388	0	0.063388	0.01293	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	3.13	1.3	0.20778	0.784000	0.26477	0.778000	0.21455	-0.182000	0.10109	0.001000	0.13787	0.248000	0.23899	0.004000	0.06068	0.2358:0.6362:0.0:0.128	3.906	0.08682	702	0.57624	MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.005051	0.005435	0.017544	0.000000	0.008621	0.015337	0.049242	0.05	934.43	34	chr7	100751208	.	C	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=374;ExcessHet=0;FS=5.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.38;SOR=1.318	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	9	0	1	0
chr7	100768641	100768641	C	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon27:c.C5073A:p.N1691K,ZAN:NM_173059:exon27:c.C5073A:p.N1691K	.	355	1129	37	1	0	39	0.0169787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	.	0.00239617	0.0017	0.0003	0.0012	0	0	0.0006	0.0062	0.0086	0.0011061	171	154602	rs200886020	0.0007	0.0007	0.0005	0.0009	0.0074	0.0007	0.0006	0.0069	0.0067	2.992e-05	0.0006	0.0031	2.525e-05	0	0.0063	0.0001	0.0014	0.0074	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0002	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.079	0.42086	T	0.999	0.77913	D	0.958	0.70027	D	0.028039	0.25665	N	0.277746	0.999497	0.21100	N	2.175	0.60977	M	0.27	0.59176	T	-3.69	0.70432	D	0.375	0.46835	-0.8721	0.50371	T	0.241	0.60917	T	10	0.00919354	0.00208	T	.	.	.	0.110	0.31079	0.6	0.73105	0.416075642716	0.41223	0.6134464291473529	0.61276	0.0789487963892	0.08884	0.344711124897	0.17139	T	0.047355	0.27697	T	-0.357163	0.04293	T	-0.281532	0.46648	T	0.0956447118229659	0.11871	T	0.70043	0.31009	T	0.067272946	0.14551	0.11275833	0.27210	0.067272946	0.14551	0.11275833	0.27209	-9.285	0.69513	D	.	.	0.344	0.56145	A	.;.;.;.	.;.;.;.	1.503816	0.19327	14.21	0.90094034460398087	0.19377	0.22775	0.21859	N	AEFDBI	0.246495	0.36724	N	-0.202817572994107	0.33019	1.868593	-0.388745786694531	0.25331	1.39241	1.12601365556767E-4	0.05269	0.06567	0.01388	0	0.085267	0.02369	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.77	1.58	0.22557	-0.304000	0.08238	-2.800000	0.03348	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.0:0.6443:0.0:0.3557	6.947	0.23704	700	0.57880	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	2117.43	171	chr7	100768641	.	C	A	2117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=878;ExcessHet=0;FS=2.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.749;SOR=0.69	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,83:83:99:1|1:100773849_CCAT_C:3715,250,0:100773849	2	3	5	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	21426.9	92	chr7	100773854	.	G	*	21426.9	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.684;DP=859;ExcessHet=0.0952;FS=0.694;InbreedingCoeff=0.3407;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=27.37;ReadPosRankSum=-0.848;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:83:99:1|1:100773849_CCAT_C:3715,3715,3715:100773849	8	0	2	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F,ZAN:NM_173059:exon35:c.C6538T:p.L2180F	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.005051	0.006793	0.014881	0.000000	0.000000	0.003067	0.007576	0.1	2573.14	40	chr7	100779666	.	C	T	2573.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.418;DP=494;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.068;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	8	0	2	0
chr7	100784727	100784727	G	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon36:c.G6727C:p.A2243P,ZAN:NM_173059:exon36:c.G6727C:p.A2243P	.	417	1067	37	1	0	39	0.0179475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	.	0.0002	0.00239617	0.0014	0.0002	0.0008	0	0	0.0005	0.0056	0.0075	0.0011837	183	154602	rs201907411	0.0007	0.0007	0.0005	0.0010	0.0075	0.0007	0.0007	0.0071	0.0069	2.987e-05	0.0006	0.0031	2.519e-05	0	0.0062	0.0001	0.0014	0.0075	0.0005	0.0005	0.0003	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	0	0	0.0003	0.0026	0	0	0.0068	0.0005	0.0005	0.0068	.	.	.	0.175	0.32040	T	0.934	0.52202	P	0.726	0.55126	P	0.048143	0.01982	N	2.533840	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.196	0.24135	-0.0814	0.80523	T	0.652	0.87889	D	9	0.025876224	0.00769	T	.	.	.	0.473	0.76619	.	.	0.0611884634855	0.05136	0.3031290985180632	0.30225	0.0886726636444	0.10026	0.220651835203	0.01348	T	0.083485	0.37065	T	-0.316908	0.07154	T	-0.222866	0.52461	T	0.0646765785142323	0.07882	T	0.723028	0.33655	T	0.09228847	0.21646	0.10416697	0.25011	0.09228847	0.21645	0.10416697	0.25011	-2.966	0.14100	T	.	.	0.102	0.17785	B	.;.;.;.	.;.;.;.	1.096425	0.14803	11.34	0.91590322418489312	0.20871	0.02306	0.06624	N	AEFDHI	0.053774	0.09720	N	-0.867652622141759	0.11619	0.5616561	-1.11627097694866	0.07389	0.3592259	0.9796870116248	0.30054	0.119485	0.03058	0	0.059962	0.00310	0	0.134018	0.03721	0	0.075334	0.01956	0	.	.	4.24	-7.18	0.01354	-0.757000	0.04877	-2.321000	0.03903	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.1913:0.0:0.5355:0.2731	6.816	0.23017	697	0.58201	Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	2881.43	189	chr7	100784727	.	G	C	2881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.397;DP=515;ExcessHet=0;FS=6.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=1.88;SOR=1.137	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	9	0	1	0
chr7	100787922	100787922	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon38:c.G7013A:p.R2338H,ZAN:NM_173059:exon38:c.G7013A:p.R2338H	.	424	1062	35	1	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	.	0.0002	0.00239617	0.0016	0.0002	0.0008	0.0005	0	0.0005	0.0063	0.0100	0.0012872	199	154602	rs199598152	0.0008	0.0008	0.0005	0.0011	0.0086	0.0007	0.0007	0.0081	0.0078	3.028e-05	0.0007	0.0034	0.0002	0	0.0075	0.0002	0.0015	0.0086	0.0006	0.0006	0.0003	0.0008	0.0073	0.0005	0.0004	0.0054	0.0047	0	0	0.0003	0.0027	0.0002	0	0.0072	0.0005	0.0010	0.0073	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.230964	0.15921	N	0.552996	0.999656	0.20771	N	.	.	.	.	.	.	.	.	.	0.09	0.07949	-1.0190	0.24041	T	0.040	0.17020	T	9	0.022127837	0.00545	T	.	.	.	0.372	0.69102	.	.	0.0297737177859	0.01360	0.7751872977740802	0.77468	0.0849059257558	0.09594	0.222604453564	0.01465	T	0.005068	0.04506	T	-0.112029	0.34435	T	0.0732665	0.75128	D	0.0352798235415309	0.02857	T	0.470053	0.13899	T	0.035594486	0.04218	0.04065576	0.04443	0.035594486	0.04217	0.04065576	0.04442	2.445	0.00035	T	.	.	0.059	0.00820	B	.;.;.;.	.;.;.;.	-0.413719	0.02162	0.210	0.40282737763205345	0.02833	0.05994	0.11957	N	AEFBI	0.046315	0.07678	N	-1.02626804236301	0.08061	0.3766705	-0.932325711519789	0.11334	0.5767601	1.84741990470518E-6	0.01202	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.63	0.676	0.17125	1.045000	0.29951	0.670000	0.20585	-1.868000	0.00555	0.965000	0.33920	0.012000	0.20211	0.012000	0.09680	0.568:0.1817:0.0944:0.1559	1.912	0.03090	698	0.58074	von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.005435	0.000000	0.000000	0.000000	0.003086	0.011450	0.05	1992.43	126	chr7	100787922	.	G	A	1992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.573;DP=438;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.434;SOR=0.546	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1044	9	0	1	0
chr7	100792460	100792460	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon42:c.C7768T:p.R2590C,ZAN:NM_173059:exon42:c.C7768T:p.R2590C	.	405	1116	1	0	0	1	0.000447828	.	.	.	2840637	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.487	0.0278831712889	0.0002	.	0.0002	0	8.672e-05	0.0005	0	0.0002	0.0023	0.0002	0.0001682	26	154602	rs373588495	8.484e-05	8.619e-05	8.033e-05	8.94e-05	0.0002	7.21e-05	6.798e-05	1.779e-05	1.151e-05	0	6.71e-05	0.0027	5.038e-05	0	0.0002	2.069e-05	0.0003	4.639e-05	0.0001	0.0001	0.0002	9.413e-05	0.0005	8.665e-05	7.256e-05	0.0002	0.0002	0	0	0.0005	0.0026	0.0004	0	0	2.94e-05	0	0	.	.	.	0.001	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.084101	0.20716	N	0.253625	0.633389	0.81001	D	.	.	.	.	.	.	.	.	.	0.614	0.70966	0.100	0.84176	D	0.570	0.84417	D	8	0.13671622	0.26011	T	0.027883	0.50642	D	0.487	0.77528	.	.	0.243972157842	0.24002	0.6015771056882553	0.60088	0.093218127879	0.10534	0.473119139671	0.35109	T	0.070055	0.33864	T	0.00104724	0.51799	T	-0.0105704	0.69647	D	0.19175098534936	0.19947	T	0.886711	0.61387	D	0.11475232	0.27088	0.07396136	0.16131	0.11475232	0.27088	0.07396136	0.16130	-7.39	0.74520	T	.	.	0.215	0.44462	B	.;.;.;.	.;.;.;.	3.433882	0.47740	22.5	0.99895183239137664	0.96819	0.57105	0.30290	D	AEFBI	0.117463	0.23010	N	0.224750146653707	0.52402	3.414492	0.117262161747066	0.45431	2.806443	0.999751667230755	0.42595	0.065574	0.01310	0	0.059962	0.00310	0	0.078125	0.02361	0	0.041896	0.00087	0	.	.	3.39	3.39	0.37919	0.621000	0.24112	-0.404000	0.09391	0.599000	0.40250	0.024000	0.20007	0.000000	0.08366	0.867000	0.41218	0.0:1.0:0.0:0.0	10.585	0.44467	693	0.58582	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1663.43	38	chr7	100792460	.	C	T	1663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.876;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-1.821;SOR=0.664	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1317	9	0	1	0
chr7	100884541	100884541	G	C	exonic	SRRT	.	nonsynonymous SNV	SRRT:NM_001128852:exon7:c.G931C:p.D311H,SRRT:NM_001128853:exon7:c.G931C:p.D311H,SRRT:NM_001128854:exon7:c.G931C:p.D311H,SRRT:NM_015908:exon7:c.G931C:p.D311H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0148003281535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.375e-06	5.815e-05	7.622e-06	3.095e-06	6.925e-06	2.24e-06	1.44e-06	2.88e-06	1.85e-06	0	0	0	0	0	0	6.925e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.49390	T	0.899	0.49514	P	0.548	0.49136	P	0.021263	0.26867	N	0.380247	0.999723	0.53665	D	0.69	0.16971	N	.	.	.	.	.	.	0.29	0.34767	-1.0688	0.09679	T	0.030	0.12717	T	10	0.1586496	0.29828	T	0.015	0.35150	T	.	.	0.174	0.08014	0.082315109003	0.07666	0.2009740913685552	0.20014	.	.	0.571929574013	0.48951	T	0.237057	0.60467	T	-0.12207	0.32786	T	-0.413122	0.31865	T	0.822384238243103	0.47950	D	0.861714	0.57103	D	0.070811324	0.15629	0.09456638	0.22389	0.070811324	0.15628	0.09456638	0.22389	-9.288	0.69601	D	.	.	0.152	0.38462	B	.;.;.;.	.;.;.;.	3.821314	0.55182	23.6	0.99246197506353184	0.56727	0.91410	0.53477	D	AEFBCI	0.619060	0.60464	D	0.0182736835981947	0.42687	2.57665	0.0364267524968206	0.41419	2.488157	0.999999999135195	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	3.91	3.91	0.44383	4.221000	0.58371	11.725000	0.94886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	11.586	0.50176	692	0.58729	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	47.7	43	chr7	100884541	.	G	C	47.7	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.398;DP=595;ExcessHet=0.2348;FS=209.413;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=-0.448;SOR=7.903	GT:AD:DP:GQ:PL	0/0:72,12:84:66:0,66,1350	7	0	2	1
chr7	100896640	100896640	C	A	exonic	ACHE	.	nonsynonymous SNV	ACHE:NM_001367918:exon1:c.G91T:p.G31W,ACHE:NM_001367919:exon1:c.G91T:p.G31W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.067e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.7199	0.59468	T	0.218	0.58033	T	5	0.21526667	0.38073	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.849326	0.23491	16.04	0.92163858969621315	0.21526	0.45520	0.27557	N	AEFDGBHCI	.	.	.	-0.0656101177096989	0.38908	2.286116	-0.0929901516142829	0.35680	2.067062	0.999999999999781	0.74766	0.11394	0.02926	0	0.067947	0.01809	2	0.125351	0.03401	0	0.109499	0.03221	0	0.426372	0.38161	3.95	0.815	0.17904	0.305000	0.19006	-0.613000	0.08212	0.495000	0.22486	0.047000	0.21291	0.000000	0.08366	0.969000	0.54022	0.0:0.6052:0.1781:0.2168	5.126	0.14218	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.04	2	chr7	100896640	.	C	A	34.04	.	AC=2;AF=0.111;AN=18;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.02;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,99	8	1	0	1
chr7	100896651	100896651	C	T	exonic	ACHE	.	nonsynonymous SNV	ACHE:NM_001367918:exon1:c.G80A:p.R27K,ACHE:NM_001367919:exon1:c.G80A:p.R27K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007123437	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9229	0.45155	T	0.098	0.36677	T	5	0.14427125	0.27380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.618194	0.20668	14.86	0.95540790439148215	0.27187	0.02639	0.07237	N	AEFDGBHCI	.	.	.	-0.529413351863063	0.21133	1.119334	-0.629408343606763	0.18738	1.002394	0.999999999999827	0.74766	0.11394	0.02926	0	0.067947	0.01809	2	0.125351	0.03401	0	0.109499	0.03221	0	0.364546	0.36610	3.95	-1.64	0.07874	0.040000	0.13791	0.207000	0.15917	-0.325000	0.05822	0.003000	0.16062	0.107000	0.22748	0.984000	0.60418	0.0:0.3103:0.3606:0.3291	4.282	0.10282	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.09	2	chr7	100896651	.	C	T	34.09	.	AC=2;AF=0.111;AN=18;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.04;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,138	8	1	0	1
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	2395.99	585	chr7	100952945	.	C	*	2395.99	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.589;DP=6147;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=58.41;MQRankSum=-8.207;QD=0.39;ReadPosRankSum=3.15;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,126:561:99:0|1:100952784_C_A:4162,0,15367:100952784	3	0	7	0
chr7	100952958	100952958	-	ACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.1179_1180insACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC:p.E393_I394insTTSHSTPSFTSSAIYSTVNISTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.437e-05	0.0002	5.005e-05	1.772e-05	8.556e-05	1.103e-05	6.41e-06	1.522e-05	8.22e-06	0	0	8.556e-05	0	0	0	0	5.735e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5041.39	567	chr7	100952958	.	G	GACCACCTCCCACAGTACTCCCAGCTTCACTTCTTCAGCCATCTACTCCACCGTCAACATATCCACAACTACC	5041.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.974;DP=6050;ExcessHet=0;FS=2.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.24;MQRankSum=-7.131;QD=8.53;ReadPosRankSum=-3.075;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:551,0:551:99:.:.:0,120,1800:.	9	0	1	0
chr7	100952964	100952964	-	TCATTTCCCCCTTCCTCAGGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCACCCAGCCTTCTGTAACCACTGAGATAACA	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.1185_1186insTCATTTCCCCCTTCCTCAGGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCACCCAGCCTTCTGTAACCACTGAGATAACA:p.S396_H397insFPPSSGTMVTFTTMNPSSLSTDISTTTLKNITQPSVTTEITS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	47961.9	596	chr7	100952964	.	C	CTCATTTCCCCCTTCCTCAGGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCACCCAGCCTTCTGTAACCACTGAGATAACA	47961.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=6368;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=58.58;MQRankSum=-4.375;QD=7.78;ReadPosRankSum=2;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:436,0:570:99:0|1:100952784_C_A:4263,5575,23823:100952784	9	0	1	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	839.43	689	chr7	100953071	.	C	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.53;DP=6631;ExcessHet=0;FS=10.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.09;MQRankSum=-3.765;QD=1.22;ReadPosRankSum=-1.463;SOR=1.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:650,0:650:99:.:.:0,120,1800:.	9	0	1	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,133:532:99:0|1:100953098_G_C:4504,0,14674:100953098	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:358,125:521:99:4171,0,14656	1	0	9	0
chr7	100953365	100953366	TC	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.1586_1587del:p.F529Sfs*38	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.645e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.383e-05	0.0049	3.299e-05	3.471e-05	6.272e-05	1.09e-05	6.33e-06	1.039e-05	3.88e-06	6.272e-05	0	0	0	0	0.0001	0	1.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	54.39	524	chr7	100953364	.	TTC	T	54.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.624;DP=5819;ExcessHet=0;FS=35.185;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-9.627;QD=0.09;ReadPosRankSum=-0.403;SOR=5.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:578,0:578:99:.:.:0,120,1800:.	9	0	1	0
chr7	100954094	100954094	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A2315G:p.H772R	.	808	657	57	0	0	57	0.0415755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933695519	0.0094	0.0084	0.0088	0.0099	0.0595	0.0091	0.0090	0.0528	0.0502	0.0016	0.0072	0.0349	3.479e-05	0.0009	0.0595	0.0082	0.0130	0.0215	0.0083	0.0088	0.0080	0.0086	0.0316	0.0079	0.0078	0.0275	0.0259	0.0016	0.0787	0.0127	0.0336	0.0004	0.0009	0.0479	0.0089	0.0152	0.0316	.	.	.	0.213	0.27056	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0039747953	0.00077	T	.	.	.	.	.	.	.	.	.	0.02810929783616011	0.02760	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304669	0.05813	T	.	.	.	.	.	.	.	.	-6.03	0.46530	T	.	.	0.163	0.35931	B	.;.	.;.	0.036165	0.04538	1.230	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.370000	0.02682	-8.607000	0.00942	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5130.14	276	chr7	100954094	.	A	G	5130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.769;DP=3320;ExcessHet=0.2348;FS=6.062;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.35;MQRankSum=7.5;QD=8.42;ReadPosRankSum=0.749;SOR=0.751	GT:AD:DP:GQ:PL	0/0:306,0:306:99:0,120,1800	8	0	2	0
chr7	100955175	100955175	G	0	exonic	MUC3A	.	.	.	.	498	860	77	0	87	164	0.0428492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1047.75	313	chr7	100955175	.	G	*	1047.75	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.84;DP=3100;ExcessHet=1.5895;FS=8.957;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.056;MQ=58.27;MQRankSum=-14.25;QD=0.8;ReadPosRankSum=-0.764;SOR=1.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:250,1:285:99:0|1:100955044_A_G:675,1386,11880:100955044	8	0	1	1
chr7	100955762	100955762	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C3983A:p.T1328N	.	896	620	5	1	0	7	0.00561347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214958271	5.682e-05	0.0008	5.395e-05	5.961e-05	0.0004	3.408e-05	2.801e-05	6.753e-05	2.83e-05	0.0001	0.0002	0	0	0	0	4.124e-05	0.0002	0.0004	0.0001	0.0020	8.197e-05	0.0001	0.0003	5.702e-05	4.262e-05	8.522e-05	4.5e-05	0.0001	0	0.0003	0	0	0	0	6.966e-05	0.0008	0	.	.	.	0.261	0.22962	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05929	.	.	.	.	.	.	.	0.059814572	0.07250	T	.	.	.	.	.	.	.	.	.	0.014401527505176325	0.01397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266973	0.04402	T	.	.	.	.	.	.	.	.	-7.856	0.60085	D	.	.	0.136	0.29588	B	.;.	.;.	-0.671401	0.01388	0.080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.660000	0.00449	-9.811000	0.00774	-0.395000	0.05324	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1336.63	513	chr7	100955762	.	C	A	1336.63	.	AC=1;AF=0.25;AN=4;BaseQRankSum=3.35;DP=5237;ExcessHet=0;FS=2.909;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=57.95;MQRankSum=-12.83;QD=2.6;ReadPosRankSum=-6.101;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:528,0:528:0:.:.:0,0,12998:.	1	0	1	8
chr7	100955779	100955779	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4000G:p.P1334A	.	1102	405	8	1	6	16	0.0121951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313584776	0.0003	0.0013	0.0001	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0004	0.0007	0	0	0.0007	0.0020	0.0003	0.0004	0	0.0007	0.0059	0.0005	0.0008	0.0013	0.0005	0.0004	0.0006	0.0004	0.0008	0.0032	0.0013	0.0008	0	0.0009	0	0.0004	0.0014	0	.	.	.	0.336	0.18449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.031654388	0.01303	T	.	.	.	.	.	.	.	.	.	0.010190083516641869	0.00981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248875	0.04334	T	.	.	.	.	.	.	.	.	-2.749	0.07724	T	.	.	0.066	0.02065	B	.;.	.;.	-0.602833	0.01564	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.412000	0.02582	-2.564000	0.03604	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	2421.43	606	chr7	100955779	.	C	G	2421.43	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.92;DP=6122;ExcessHet=0;FS=19.023;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=57.26;MQRankSum=-21.05;QD=4.48;ReadPosRankSum=-6.637;SOR=1.897	GT:AD:DP:GQ:PL	./.:637,0:637:0:0,0,2754	1	0	1	8
chr7	100955783	100955783	C	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C4004A:p.T1335K	.	931	584	6	1	0	8	0.00680272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353275951	8.032e-05	0.0016	5.446e-05	0.0001	0.0007	5.355e-05	4.472e-05	3.205e-05	2.39e-05	0.0001	0.0001	0	0	0.0003	0.0007	5.953e-05	5.806e-05	0.0002	0.0008	0.0049	0.0007	0.0009	0.0014	0.0006	0.0005	0.0008	0.0006	0.0010	0.0026	0.0014	0.0007	0	0.0009	0	0.0005	0.0012	0.0005	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.12055	.	.	.	.	.	.	.	0.047530502	0.04083	T	.	.	.	.	.	.	.	.	.	0.027707913494658065	0.02720	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214079	0.02639	T	.	.	.	.	.	.	.	.	-4.934	0.36115	T	.	.	0.159	0.35119	B	.;.	.;.	0.086628	0.04912	1.492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.529000	0.02327	-4.631000	0.02060	-2.911000	0.00159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	2577.63	639	chr7	100955783	.	C	A	2577.63	.	AC=1;AF=0.25;AN=4;BaseQRankSum=2.82;DP=6416;ExcessHet=0;FS=3.669;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=57.08;MQRankSum=-15.3;QD=4.05;ReadPosRankSum=-2.215;SOR=1.016	GT:AD:DP:GQ:PL	./.:666,0:666:0:0,0,805	1	0	1	8
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2136.14	665	chr7	100955959	.	A	G	2136.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.731;DP=6655;ExcessHet=0.2348;FS=6.287;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.2;MQRankSum=-14.57;QD=1.7;ReadPosRankSum=1.46;SOR=1.237	GT:AD:DP:GQ:PL	0/0:326,0:326:99:0,120,1800	8	0	2	0
chr7	100958370	100958371	CA	-	exonic	MUC3A	.	frameshift deletion	MUC3A:NM_005960:exon2:c.6591_6592del:p.T2198Lfs*32	.	454	1060	8	0	0	8	0.0037594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.802e-05	9.555e-05	1.63e-05	3.835e-05	4.847e-05	1.834e-05	1.566e-05	2.212e-05	1.825e-05	4.847e-05	4.558e-05	0	0	2.656e-05	0	3.542e-05	0	0	0.0002	0.0006	0.0001	0.0003	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0.0002	0	0.0002	0.0003	0	6.527e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	899.39	492	chr7	100958369	.	CCA	C	899.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.29;DP=4869;ExcessHet=0;FS=9.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.62;MQRankSum=-8.292;QD=3.81;ReadPosRankSum=-3.31;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:282,0:282:99:.:.:0,120,1800:.	9	0	1	0
chr7	100958371	100958371	A	0	exonic	MUC3A	.	.	.	.	609	901	4	0	8	12	0.00221484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2779.94	481	chr7	100958371	.	A	*	2779.94	.	AC=1;AF=0.25;AN=4;BaseQRankSum=8.86;DP=4797;ExcessHet=0.2348;FS=4.098;InbreedingCoeff=-0.4286;MLEAC=2;MLEAF=0.5;MQ=54.11;MQRankSum=-12.35;QD=5.09;ReadPosRankSum=-5.833;SOR=0.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:226,0:310:99:0|1:100958350_TCAAA_T:2784,3461,12806:100958350	1	0	1	8
chr7	100958461	100958461	-	CCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCATTTCTTTGATAACCACCTCTGAGACCCCCTCACACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGACTCGATCGTCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGGACCACTGAGACCACCTCTCATAGTACTCCCAGCTTCACTTCTTCAATCATCG	exonic	MUC3A	.	nonframeshift insertion	MUC3A:NM_005960:exon2:c.6682_6683insCCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCATTTCTTTGATAACCACCTCTGAGACCCCCTCACACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGACTCGATCGTCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGGACCACTGAGACCACCTCTCATAGTACTCCCAGCTTCACTTCTTCAATCATCG:p.P2237_G2238insSFTSLITTTETTSHSTPSFISLITTSETPSHSTPSFTSLITTTETPSSSTPSFTSSITTTDSIVTTETTSHSTPSFTSSISTTETTSHSTPSFTSSITITETTSHSTPSYTTSITSTKTPSHSTPSYTTSITTTEIPSHSTPSFTSSITTTETTSHSTPSFTSSIRTTETTSHSTPSFTSSIIATETTSHSTP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	13271.4	1231	chr7	100958461	.	A	ACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACGGAGACCACCTCACACAGTACTCCCAGCTTCATTTCTTTGATAACCACCTCTGAGACCCCCTCACACAGTACTCCCAGCTTCACTTCTTTGATCACCACCACCGAGACCCCCTCAAGCAGTACTCCCAGCTTCACTTCTTCGATCACCACCACCGACTCGATCGTCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGCACCACTGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCGATCACCATCACTGAGACCACCTCACACAGTACTCCCAGCTACACTACCTCAATCACCAGCACCAAGACCCCCTCACACAGTACTCCCAGCTACACTACCTCAATCACCACCACTGAGATCCCATCACACAGTACTCCCAGCTTCACTTCTTCAATCACCACCACCGAGACCACATCCCACAGTACTCCCAGCTTCACTTCTTCAATCAGGACCACTGAGACCACCTCTCATAGTACTCCCAGCTTCACTTCTTCAATCATCG	13271.4	.	AC=1;AF=0.05;AN=20;DP=10252;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.93;QD=28.46;SOR=0.585	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,99,1800	9	0	1	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	42275.8	541	chr7	100960582	.	T	*	42275.8	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.435;DP=6282;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=0.055;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:339,0:600:99:0|1:100960582_T_A:9899,10919,24896:100960582	7	0	3	0
chr7	100960586	100960586	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G8807A:p.R2936H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	.	0.0002	.	6.176e-05	0.0001	0	0	0	8.071e-05	0	6.22e-05	5.82e-05	9	154602	rs375708208	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.975e-05	0	0	0	0	0	0.0002	0.0002	3.478e-05	6.566e-05	8.535e-05	2.568e-05	0.0001	0.0001	3.514e-05	2.614e-05	6.802e-05	5.086e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.159	0.31527	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.05799	-0.9698	0.37242	T	0.013	0.04938	T	8	0.06144315	0.07705	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.29031358105202604	0.28944	.	.	0.181505531073	0.00109	T	.	.	.	-0.221326	0.17814	T	-0.555696	0.16783	T	0.0382466576993465	0.03375	T	0.542346	0.18433	T	0.029042494	0.02337	0.05156717	0.08325	0.029042494	0.02336	0.05156717	0.08325	-4.828	0.34916	T	.	.	0.101	0.17742	B	.;.	.;.	1.508846	0.19389	14.24	0.99252930510070081	0.56924	0.00285	0.01534	N	AEFDBI	0.045243	0.07376	N	-0.927221944428088	0.10209	0.4867622	-1.1144121627807	0.07425	0.3610756	0.00391422482927848	0.10337	0.581397	0.33459	0	0.563428	0.19063	0	0.565031	0.19037	0	0.530356	0.10902	0	.	.	1.96	-0.0299	0.13242	-0.060000	0.11669	-4.164000	0.02306	-0.322000	0.05848	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6082:0.2363:0.1555	4.849	0.12888	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3321.43	527	chr7	100960586	.	G	A	3321.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.777;DP=5880;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.12;SOR=0.658	GT:AD:DP:GQ:PL	0/0:530,0:530:99:0,120,1800	9	0	1	0
chr7	100992533	100992533	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C1970T:p.P657L	.	413	1103	6	0	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0091459287287	0.0026	0.00179712	0.0019	0.0004	0	0	0.0056	0.0029	0.0042	0.0005	0.0015782	244	154602	rs184992838	0.0042	0.0043	0.0043	0.0041	0.0050	0.0041	0.0041	0.0049	0.0048	0.0009	0.0025	0.0002	5.597e-05	0.0029	0.0011	0.0050	0.0032	0.0010	0.0029	0.0031	0.0032	0.0027	0.0050	0.0027	0.0026	0.0045	0.0044	0.0012	0	0.0022	0	0	0.0017	0	0.0050	0.0019	0.0006	0.107	0.30375	T	0.071	0.43531	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-1.39	0.00611	N	2.47	0.14907	T	-0.48	0.15986	N	0.038	0.01203	-1.0026	0.29168	T	0.011	0.04088	T	6	0.0054731667	0.00121	T	0.009146	0.24059	T	0.003	0.00094	.	.	0.0806252709748	0.07271	2.1920732658694026E-4	0.00019	.	.	0.457072615623	0.32910	T	0.003233	0.02636	T	-0.754808	0.00016	T	-0.855915	0.00888	T	0.00792121135092647	0.00093	T	0.212579	0.02598	T	0.028718626	0.02252	0.06722973	0.13879	0.028718626	0.02252	0.06722973	0.13879	-2.226	0.04168	T	.	.	0.087	0.25689	B	.;.	.;.	-0.690454	0.01342	0.075	0.22338829363146598	0.00894	0.00115	0.00727	N	AEFDBHCI	0.017427	0.00456	N	-1.70600716073763	0.00821	0.03548135	-1.89576230013728	0.00499	0.02211496	0.0422752824031701	0.14519	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.463	-0.925	0.09926	-4.306000	0.00292	-7.414000	0.01162	-1.813000	0.00609	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3895.43	344	chr7	100992533	.	C	T	3895.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=3478;ExcessHet=0;FS=1.201;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.331;QD=6.79;ReadPosRankSum=-0.241;SOR=0.733	GT:AD:DP:GQ:PL	0/0:645,0:645:99:0,120,1800	9	0	1	0
chr7	100996232	100996232	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C5669T:p.T1890M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0173797861704	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1231887143	7.96e-05	0.0006	9.155e-05	6.73e-05	0.0031	6.731e-05	6.256e-05	0.0026	0.0024	0.0031	0.0001	0	0	0	0	3.768e-06	8.842e-05	7.796e-05	0.0008	0.0054	0.0008	0.0008	0.0029	0.0007	0.0006	0.0025	0.0023	0.0029	0	0.0003	0	0	0	0	1.473e-05	0.0005	0	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.895	0.50365	L	2.7	0.12162	T	-1.43	0.35194	N	0.023	0.01740	-0.9734	0.36474	T	0.019	0.07939	T	6	0.042583793	0.03022	T	0.01738	0.39055	T	0.011	0.01250	0.2	0.11384	0.0482279557977	0.04254	0.02543632627579752	0.02494	.	.	0.568692445755	0.48493	T	0.005547	0.05002	T	-0.339044	0.05455	T	-0.72479	0.04567	T	0.0192322482552355	0.00629	T	0.510449	0.16283	T	0.04754467	0.08144	0.09889975	0.23595	0.04754467	0.08144	0.09889975	0.23594	-7.41	0.56975	T	.	.	0.156	0.34514	B	.;.	.;.	2.046236	0.26014	16.97	0.51208319387810564	0.04521	0.00418	0.02065	N	AEFI	0.028299	0.02467	N	-0.858352768303371	0.11844	0.573908	-1.02831286085468	0.09165	0.4544672	1.63987838134513E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.744	0.744	0.17503	-0.044000	0.11977	-1.999000	0.04367	-1.577000	0.00925	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	182.43	56	chr7	100996232	.	C	T	182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.09;MQRankSum=-0.751;QD=3.38;ReadPosRankSum=-0.88;SOR=0.058	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1308	9	0	1	0
chr7	100996691	100996691	T	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.T6128C:p.V2043A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00689331228106	.	.	0.0002	0	0	0	0	0	0	0.0006	3.84e-05	1	26028	rs767427396	2.148e-05	5.689e-05	2.051e-05	2.244e-05	0.0003	1.374e-05	1.107e-05	7.513e-05	5.628e-05	5.083e-05	8.553e-05	0	0	0	0.0003	6.123e-06	4.993e-05	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	7.579e-05	6.204e-05	0.0002	0.0002	0.0003	0	0.0003	0	0	0	0	1.612e-05	0	0	0.566	0.06262	T	0.563	0.09022	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.66	0.12575	T	-0.05	0.07736	N	0.032	0.00882	-0.9434	0.42073	T	0.012	0.04700	T	7	0.04305029	0.03115	T	0.006893	0.18233	T	0.053	0.14996	0.077	0.00572	0.0138822411134	0.00435	0.008497003684550438	0.00813	.	.	0.457367569208	0.32950	T	0.003613	0.03020	T	-0.403184	0.02206	T	-0.816923	0.01515	T	0.0254349916077329	0.01330	T	0.221278	0.03057	T	0.019719224	0.00509	0.03130056	0.01699	0.019719224	0.00508	0.03130056	0.01699	-6.875	0.62365	T	.	.	0.362	0.57311	A	.;.	.;.	-0.754910	0.01199	0.059	0.30904732668997048	0.01714	0.00065	0.00468	N	AEFI	0.029922	0.02914	N	-1.13378982589605	0.06050	0.2775148	-1.29937916625295	0.04440	0.2094076	1.2302482961349E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.891	-0.576	0.11143	-4.137000	0.00326	-20.000000	0.00162	-2.289000	0.00325	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3205:0.0:0.6795	3.041	0.05766	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2484.43	33	chr7	100996691	.	T	C	2484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=880;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=37.65;MQRankSum=-1.59;QD=4.25;ReadPosRankSum=-1.722;SOR=0.773	GT:AD:DP:GQ:PL	0/0:22,0:22:44:0,44,818	9	0	1	0
chr7	100999072	100999072	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G8509A:p.E2837K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.013734817451	.	.	0.0009	0	0	0	0	0.0015	0	0.0008	3.84e-05	1	26028	rs773068041	1.983e-05	0.0005	1.593e-05	2.384e-05	0.0003	1.358e-05	1.164e-05	0.0002	0.0001	0.0003	0	8.128e-05	0	0	0	1.129e-05	1.762e-05	2.57e-05	9.327e-05	0.0022	0.0001	6.809e-05	0.0003	5.602e-05	4.423e-05	0.0002	0.0001	0.0003	0	6.578e-05	0	0	0	0	1.472e-05	0	0	0.19	0.21144	T	0.339	0.18071	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.67	0.12473	T	-0.91	0.24460	N	0.056	0.02759	-0.9431	0.42121	T	0.013	0.04985	T	6	0.024649203	0.00686	T	0.013735	0.33353	T	0.007	0.00512	0.346	0.34112	0.0138822411134	0.00435	0.12496359971315486	0.12422	.	.	0.500120162964	0.38845	T	0.003695	0.03101	T	-0.37452	0.03372	T	-0.775748	0.02584	T	0.014086260900262	0.00274	T	0.276272	0.05662	T	0.0747081	0.16783	0.09225033	0.21731	0.0747081	0.16783	0.09225033	0.21731	-8.195	0.64416	D	.	.	0.173	0.38747	B	.;.	.;.	0.450798	0.08207	4.946	0.94802603457153267	0.25554	0.00165	0.00980	N	AEFI	0.044306	0.07111	N	-1.17698486655307	0.05349	0.2436335	-1.34567130505186	0.03857	0.1807825	1.17019748283552E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.1	0.1	0.13817	-1.440000	0.02518	-0.565000	0.08457	-0.666000	0.04332	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004310	0.007692	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	613.43	72	chr7	100999072	.	G	A	613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.72;DP=1021;ExcessHet=0;FS=5.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.17;MQRankSum=-0.881;QD=2.26;ReadPosRankSum=-0.033;SOR=1.4	GT:AD:DP:GQ:PL	0/0:19,0:19:48:0,48,720	9	0	1	0
chr7	100999834	100999834	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9271A:p.A3091T	.	462	1038	22	0	0	22	0.0104862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.0118805894723	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147697272	4.529e-06	0.0003	2.979e-06	6.122e-06	1.336e-05	1.63e-06	1.07e-06	1.42e-06	1.03e-06	0	0	0	0	0	0	4.835e-06	0	1.336e-05	0.0001	0.0034	0.0001	0.0001	0.0003	7.688e-05	6.373e-05	0.0002	0.0002	0.0003	0	6.612e-05	0	0	9.446e-05	0	2.97e-05	0	0.0002	0.117	0.28271	T	0.25	0.23707	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.65	0.12676	T	0.38	0.03700	N	0.026	0.03283	-0.9374	0.43025	T	0.013	0.04938	T	7	0.05045861	0.04783	T	0.011881	0.29939	T	0.001	0.00016	0.116	0.02439	0.0297737177859	0.01360	0.010246021458631826	0.00986	.	.	0.509776294231	0.40191	T	0.00365	0.03060	T	-0.41745	0.01776	T	-0.837414	0.01138	T	0.0442432217210362	0.04464	T	0.232777	0.03611	T	0.02471517	0.01331	0.040714942	0.04463	0.02471517	0.01331	0.040714942	0.04463	-2.016	0.03242	T	.	.	0.099	0.16582	B	.;.	.;.	-0.465638	0.01980	0.173	0.79908635840154496	0.12956	0.00180	0.01055	N	AEFI	0.030282	0.03017	N	-1.33470684704216	0.03286	0.1465343	-1.48318087727813	0.02482	0.1142237	1.19783675759286E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.869	-0.109	0.12922	-0.982000	0.03873	-8.331000	0.00988	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2687:0.0:0.7313:0.0	4.332	0.10507	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	173.43	34	chr7	100999834	.	G	A	173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.074;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.17;MQRankSum=-6.049;QD=0.91;ReadPosRankSum=-1.349;SOR=0.024	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	9	0	1	0
chr7	101000293	101000293	A	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.A9730G:p.T3244A	.	331	1174	17	0	0	17	0.00718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0147554947816	.	.	0.0019	0	0	0	0	0.0005	0.0042	0.0046	3.84e-05	1	26028	rs767546340	5.789e-06	0.0009	2.856e-06	8.802e-06	0.0002	2.49e-06	1.8e-06	4.119e-05	2.888e-05	0	0	0	0	0	0.0002	0	0	8.97e-05	6.57e-06	0.0007	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.505	0.11004	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.81	0.10975	T	-1.17	0.29933	N	0.089	0.12913	-0.9200	0.45554	T	0.012	0.04700	T	6	0.012117922	0.00262	T	0.014755	0.35085	T	0.020	0.03691	.	.	0.0297737177859	0.01360	0.09361338531329641	0.09293	.	.	0.541573524475	0.44668	T	0.007058	0.06479	T	-0.552468	0.00282	T	-0.733799	0.04157	T	0.0482062467348094	0.05180	T	0.216578	0.02710	T	0.09819249	0.23157	0.1203934	0.29054	0.09819249	0.23157	0.1203934	0.29053	-8.066	0.61519	D	.	.	0.149	0.32898	B	.;.	.;.	0.656210	0.10244	6.983	0.27641341100792455	0.01382	0.00275	0.01491	N	AEFBI	0.022379	0.01112	N	-1.02287317704867	0.08130	0.3801577	-1.20135753606827	0.05888	0.2818667	1.16875703740527E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	-0.918000	0.04130	-0.347000	0.09772	0.285000	0.18709	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006024	0.000000	0.005051	0.007576	0.000000	0.027778	0.010417	0.010870	0.05	1488.43	2277	chr7	101000293	.	A	G	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.57;DP=11305;ExcessHet=0;FS=2.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.82;MQRankSum=6.67;QD=0.92;ReadPosRankSum=2.52;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1421,194:1615:99:0|1:101000293_A_G:1500,0,42565:101000293	9	0	1	0
chr7	101000530	101000530	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9967A:p.V3323I	.	358	1159	5	0	0	5	0.00215239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.0186583538891	.	.	0.0003	0	0	0	0.0025	0.0004	0	0	3.84e-05	1	26028	rs764731576	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.204	0.20078	T	0.248	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.76	0.11515	T	-0.41	0.14000	N	0.048	0.03175	-0.9578	0.39589	T	0.011	0.04321	T	6	0.017803043	0.00382	T	0.018658	0.40796	T	0.003	0.00094	.	.	0.0138822411134	0.00435	0.012386921560435575	0.01197	.	.	0.542572498322	0.44809	T	0.003468	0.02879	T	-0.419208	0.01730	T	-0.83994	0.01099	T	0.0362322432272147	0.03021	T	0.175782	0.01728	T	0.07191384	0.15958	0.058027796	0.10653	0.07191384	0.15957	0.058027796	0.10653	-5.897	0.45410	T	.	.	0.134	0.31583	B	.;.	.;.	-0.759034	0.01190	0.058	0.5111400784289799	0.04504	0.00016	0.00195	N	AEFBI	0.024298	0.01482	N	-1.35145559976251	0.03110	0.1383987	-1.53587876634206	0.02074	0.09487683	2.90944674367213E-5	0.03498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.109	-0.218	0.12495	-4.275000	0.00298	-12.385000	0.00529	-2.088000	0.00400	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2438.14	1537	chr7	101000530	.	G	A	2438.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=5.28;DP=10803;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=40.84;MQRankSum=-4.285;QD=0.57;ReadPosRankSum=0.839;SOR=0.7	GT:AD:DP:GQ:PL	0/0:1535,0:1535:99:0,120,1800	8	0	2	0
chr7	101000747	101000747	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C10184T:p.P3395L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0241055654086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.257e-07	6.844e-06	0	1.471e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.736e-05	0	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.008	0.59928	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.845	0.48678	L	2.47	0.14907	T	-3.62	0.69593	D	0.131	0.12627	-0.9992	0.30143	T	0.017	0.06807	T	5	0.08890256	0.15351	T	0.024106	0.47094	T	0.094	0.27141	0.215	0.13498	0.0846915920261	0.08053	0.02369062732102179	0.02321	.	.	0.511341333389	0.40410	T	0.050369	0.28575	T	-0.251247	0.13946	T	-0.598675	0.12923	T	0.221964571421246	0.21561	T	0.39556	0.10511	T	0.057885196	0.11576	0.09711602	0.23102	0.057885196	0.11576	0.09711602	0.23101	-6.031	0.46538	T	.	.	0.188	0.40506	B	.;.	.;.	0.804520	0.11755	8.328	0.24498099568954018	0.01086	0.00585	0.02632	N	AEFI	0.031340	0.03327	N	-1.29506736921487	0.03734	0.1673412	-1.47508842201678	0.02550	0.1174812	3.75354971709761E-5	0.03775	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	.	.	.	1.302000	0.33063	-0.061000	0.12424	-0.702000	0.04048	0.052000	0.21487	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	304.43	336	chr7	101000747	.	C	T	304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.82;DP=2861;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.82;MQRankSum=-0.605;QD=0.9;ReadPosRankSum=1.43;SOR=0.523	GT:AD:DP:GQ:PL	0/0:270,0:270:99:0,120,1800	9	0	1	0
chr7	101003779	101003779	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G13216A:p.V4406I	.	445	1076	1	0	0	1	0.000464468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00541676055802	.	0.000199681	0.0008	0	0	0	0	0.0005	0	0.0014	3.84e-05	1	26028	rs541855315	5.958e-05	0.0002	6.024e-05	5.891e-05	0.0004	4.896e-05	4.5e-05	0.0003	0.0002	3.219e-05	2.816e-05	0.0001	8.408e-05	2.878e-05	0.0004	3.73e-05	0	0.0004	6.315e-05	0.0001	4.602e-05	8.131e-05	0.0007	3.111e-05	2.258e-05	0.0002	0.0001	0	0	0.0002	0	0.0002	0	0	3.241e-05	0	0.0007	0.048	0.40319	D	0.465	0.12421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.76	0.11515	T	-0.29	0.12472	N	0.051	0.03283	-0.9721	0.36755	T	0.011	0.04321	T	7	0.020961195	0.00492	T	0.005417	0.13923	T	0.010	0.01040	0.13	0.03494	0.0138822411134	0.00435	0.007913938085373969	0.00756	.	.	0.436083912849	0.30042	T	0.00447	0.03877	T	-0.408956	0.02019	T	-0.825214	0.01350	T	0.00809706671091287	0.00096	T	0.141486	0.01146	T	0.033378	0.03544	0.032640424	0.02031	0.033378	0.03543	0.032640424	0.02031	-6.969	0.53807	T	.	.	0.105	0.24020	B	.;.	.;.	-0.528341	0.01778	0.136	0.48964469915509634	0.04130	0.00016	0.00195	N	AEFBI	0.022800	0.01186	N	-1.38616461570904	0.02767	0.122647	-1.58320656573682	0.01758	0.07996722	2.52774410739463E-4	0.06190	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	1.13	-2.26	0.06478	-1.924000	0.01657	-11.785000	0.00575	-2.835000	0.00177	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3656:0.0:0.45:0.1843	3.734	0.08030	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	128.62	235	chr7	101003779	.	G	A	128.62	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.906;DP=901;ExcessHet=0;FS=0;InbreedingCoeff=-0.0661;MLEAC=1;MLEAF=0.05;MQ=27.67;MQRankSum=0.429;QD=6.12;ReadPosRankSum=0.301;SOR=0.223	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,99,1485	9	0	1	0
chr7	101004493	101004493	C	G	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C13930G:p.P4644A	.	497	958	63	4	0	71	0.0357323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00479233	0.0145	0.0024	0.0118	0	0.0123	0.0076	0.0474	0.0250	0.0032273	84	26028	rs111307353	0.0069	0.0067	0.0061	0.0076	0.0280	0.0067	0.0067	0.0270	0.0267	0.0010	0.0041	0.0033	0.0003	0.0116	0.0251	0.0056	0.0066	0.0280	0.0056	0.0058	0.0049	0.0063	0.0213	0.0053	0.0051	0.0179	0.0166	0.0011	0	0.0024	0.0038	0.0006	0.0153	0.0214	0.0067	0.0117	0.0213	0.143	0.25355	T	0.911	0.02952	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	2.51	0.14284	T	-0.14	0.16393	N	0.015	0.02088	-0.9552	0.40060	T	0.009	0.03096	T	6	0.0037515461	0.00070	T	.	.	.	0.011	0.01250	.	.	.	.	0.0013067610022922437	0.00120	.	.	0.444512039423	0.31193	T	0.006206	0.05647	T	-0.726623	0.00025	T	-0.796248	0.01998	T	0.0023018370117503	0.00024	T	0.213379	0.02617	T	0.02942691	0.02434	0.0741683	0.16195	0.02942691	0.02434	0.0741683	0.16195	1.834	0.00060	T	.	.	0.064	0.02609	B	.;.	.;.	-0.677403	0.01374	0.078	0.1196446150949034	0.00195	0.00081	0.00551	N	AEFBI	0.023841	0.01386	N	-1.4625874373199	0.02120	0.0932634	-1.63058557593802	0.01479	0.06695312	4.06484876756422E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.131	-0.261	0.12322	-0.330000	0.07968	.	.	-1.011000	0.01765	0.000000	0.06391	.	.	0.001000	0.02609	.	.	.	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015625	0.005435	0.000000	0.000000	0.083333	0.045455	0.023810	0.048780	0.05	3438.43	90	chr7	101004493	.	C	G	3438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=791;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.86;MQRankSum=-0.851;QD=13.86;ReadPosRankSum=1.07;SOR=0.557	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	9	0	1	0
chr7	101032659	101032659	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A1243G:p.T415A	.	427	1088	7	0	0	7	0.0032066	.	.	.	2826027	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000956035110075	0.0046	0.00179712	0.0037	0.0012	0.0016	0	0.0011	0.0054	0.0066	0.0024	0.0037128	574	154602	rs145279256	0.0070	0.0068	0.0072	0.0068	0.0083	0.0069	0.0068	0.0081	0.0081	0.0011	0.0029	0.0052	2.692e-05	0.0016	0.0014	0.0083	0.0059	0.0030	0.0043	0.0043	0.0046	0.0039	0.0074	0.0040	0.0039	0.0069	0.0066	0.0014	0.0033	0.0034	0.0035	0	0.0008	0	0.0074	0.0038	0.0015	0.169	0.22920	T	.	.	.	0.191	0.29411	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	4.37	0.02277	T	-0.08	0.08187	N	0.046	0.01825	-0.8978	0.48214	T	0.003	0.01026	T	9	0.0050201714	0.00108	T	9.56E-4	0.00957	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.004178214482374494	0.00391	.	.	0.207869395614	0.00724	T	0.016724	0.13769	T	-0.716533	0.00029	T	-0.797742	0.01960	T	0.00760748272969029	0.00088	T	0.271373	0.04588	T	0.028834486	0.02283	0.03241514	0.01973	0.028834486	0.02283	0.03241514	0.01973	-6.201	0.47931	T	.	.	0.101	0.17530	B	.	.	-0.201024	0.03086	0.485	0.2842355011326142	0.01459	0.00189	0.01098	N	AEFBI	0.028769	0.02595	N	-1.26590189969864	0.04093	0.1841085	-1.37517767006904	0.03518	0.1642871	2.62622569382389E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	1.22	-0.0841	0.13026	-0.919000	0.04125	-7.147000	0.01220	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7905:0.0:0.2094:0.0	4.615	0.11808	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	15771.1	33	chr7	101032659	.	A	G	15771.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.82;DP=3207;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0.993;QD=13.1;ReadPosRankSum=0.917;SOR=0.642	GT:AD:DP:GQ:PL	0/0:562,0:562:99:0,120,1800	8	0	2	0
chr7	101034592	101034592	C	T	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C3176T:p.T1059M	.	416	1069	37	0	0	37	0.0170115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	.	0.0067	0.0017	0.0048	0.0001	0.0009	0.0083	0.0088	0.0103	0.0057114	883	154602	rs144904263	0.0073	0.0083	0.0072	0.0075	0.0200	0.0072	0.0072	0.0170	0.0159	0.0013	0.0043	0.0176	2.534e-05	0.0011	0.0200	0.0077	0.0088	0.0088	0.0042	0.0063	0.0047	0.0037	0.0068	0.0039	0.0038	0.0063	0.0061	0.0009	0.0011	0.0024	0.0143	0	0.0006	0.0105	0.0068	0.0076	0.0051	0.012	0.54683	D	.	.	.	0.968	0.56581	D	0.105	0.31087	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.26	0.02538	T	-0.77	0.21429	N	0.047	0.01911	-0.8863	0.49248	T	0.004	0.01192	T	9	0.0051009655	0.00110	T	.	.	.	0.095	0.27398	.	.	0.0138822411134	0.00435	0.002995186224735075	0.00279	.	.	0.21727925539	0.01159	T	0.017352	0.14172	T	-0.692104	0.00041	T	-0.760963	0.03078	T	0.0075188941836622	0.00087	T	0.435556	0.11926	T	0.020548632	0.00617	0.035751507	0.02887	0.020548632	0.00616	0.035751507	0.02886	-6.792	0.52500	T	.	.	0.097	0.15743	B	.	.	0.283147	0.06599	3.091	0.37993982564826517	0.02536	0.00308	0.01632	N	AEFGBI	0.039571	0.05765	N	-1.39427633929123	0.02691	0.1191954	-1.57979180434879	0.01779	0.08096282	0.00153576149883892	0.08622	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.481	-0.962	0.09806	0.275000	0.18461	-9.209000	0.00852	-0.650000	0.04392	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3323:0.0:0.6677	5.534	0.16292	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016913	0.005051	0.005435	0.045082	0.000000	0.043103	0.027439	0.011364	0.05556	9591.05	571	chr7	101034592	.	C	T	9591.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=5.21;DP=11223;ExcessHet=0;FS=1.225;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=59.42;MQRankSum=-3.786;QD=6.07;ReadPosRankSum=-0.541;SOR=0.724	GT:AD:DP:GQ:PL	0/1:1135,446:1581:99:9602,0,29066	8	0	1	1
chr7	101037268	101037268	C	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C5852A:p.A1951D	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00143959125715	0.0002	0.000798722	0.0001	0.0012	0.0002	0	0	0	0	6.3e-05	0.0001229	19	154602	rs188270675	6.101e-05	6.088e-05	5.455e-05	6.753e-05	0.0018	5.038e-05	4.681e-05	0.0015	0.0013	0.0018	8.968e-05	0	0	0	0.0003	0	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0009	0.0008	0.0012	0	0.0001	0	0	0	0	0	0	0	0.116	0.28395	T	.	.	.	0.004	0.12183	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	4.16	0.02791	T	-0.87	0.23590	N	0.082	0.05799	-0.9022	0.47760	T	0.004	0.01365	T	9	0.012021303	0.00260	T	0.00144	0.02164	T	0.008	0.00669	.	.	0.0666544352282	0.05500	0.006063868460400826	0.00575	.	.	0.306573241949	0.11389	T	0.017711	0.14403	T	-0.650916	0.00072	T	-0.753324	0.03358	T	0.00456563713266082	0.00049	T	0.29867	0.05569	T	0.09071954	0.21235	0.06501221	0.13116	0.09071954	0.21235	0.06501221	0.13116	-7.367	0.56671	T	.	.	0.226	0.45762	B	.	.	-0.883857	0.00954	0.037	0.24732363827834219	0.01107	0.01816	0.05653	N	AEFBCI	0.056240	0.10381	N	-1.78680665893069	0.00578	0.02490591	-1.85624590862087	0.00595	0.02644586	1.5260082399649E-4	0.05650	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.932	-1.86	0.07340	-1.955000	0.01614	-20.000000	0.00162	-1.680000	0.00787	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2497:0.5521:0.0:0.1982	3.114	0.05984	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	7279.43	569	chr7	101037268	.	C	A	7279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.134;DP=4452;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=1.06;QD=13.46;ReadPosRankSum=-1.089;SOR=0.591	GT:AD:DP:GQ:PL	0/0:543,0:543:99:0,120,1800	9	0	1	0
chr7	101039818	101039818	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C8402G:p.P2801R	.	428	1091	3	0	0	3	0.001373	.	.	.	3379407	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.000957552015421	.	.	.	.	.	.	.	.	.	.	0.0040341	105	26028	rs1004398115	3.454e-06	0.0029	2.749e-06	4.165e-06	3.628e-06	1.01e-06	7.4e-07	8.5e-07	5.7e-07	0	0	3.912e-05	0	0	0	3.628e-06	0	0	0.0002	0.0075	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	0	0.0003	0	0.0002	0	0	6.025e-05	0	0.0004	0.024	0.47745	D	.	.	.	0.994	0.66517	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	2.38	0.68558	M	4.57	0.01917	T	-1.58	0.38151	N	0.101	0.08366	-0.9294	0.44227	T	0.010	0.03856	T	9	0.18032071	0.33210	T	9.58E-4	0.00980	T	0.045	0.12272	0.196	0.10839	0.110078149338	0.10416	0.0014453802351999043	0.00133	.	.	0.246509730816	0.03409	T	0.033466	0.22927	T	-0.325489	0.06458	T	-0.705319	0.05540	T	0.118476174771786	0.14280	T	0.450755	0.12737	T	0.047618616	0.08168	0.05372311	0.09104	0.047618616	0.08167	0.05372311	0.09103	-6.882	0.53166	T	.	.	0.175	0.38372	B	.	.	1.157688	0.15464	11.87	0.31560487101999807	0.01785	0.00516	0.02410	N	AEFBI	0.041427	0.06297	N	-1.00578522340815	0.08482	0.3979146	-1.26687851502205	0.04886	0.2315516	1.0614227553124E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.989	0.09718	1.165000	0.31432	-11.132000	0.00632	0.305000	0.19019	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.577:0.2437:0.1793	4.029	0.09186	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1538.14	39	chr7	101039818	.	C	G	1538.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.773;DP=2836;ExcessHet=0.2348;FS=2.049;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.52;MQRankSum=-19.22;QD=1.19;ReadPosRankSum=-8.223;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:571,0:571:99:.:.:0,120,1800:.	8	0	2	0
chr7	101041315	101041315	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C9899G:p.T3300S	.	423	1032	64	0	3	67	0.0300752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.000797686807019	.	.	0.0007	0.0056	0.0002	0.0002	0	0.0002	0	0.0004	3.84e-05	1	26028	rs767499579	0.0001	0.0078	7.089e-05	0.0001	0.0003	8.847e-05	8.323e-05	0.0002	0.0001	0.0003	0	0.0002	0.0001	0.0001	0	9.253e-05	0.0001	0.0001	0.0002	0.0081	0.0002	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0.0003	0	7.548e-05	0	0.0007	0.192	0.20988	T	.	.	.	0.88	0.48402	P	0.899	0.63802	P	.	.	.	.	1	0.08975	N	2.395	0.69210	M	4.43	0.02158	T	-1.74	0.41239	N	0.048	0.01999	-0.9224	0.45224	T	0.009	0.03448	T	9	0.00892818	0.00202	T	7.98E-4	0.00629	T	0.040	0.10527	0.109	0.01988	0.0297737177859	0.01360	0.0019091198207518087	0.00176	.	.	0.236632063985	0.02495	T	0.017008	0.13954	T	-0.367334	0.03731	T	-0.74994	0.03488	T	0.161113634746503	0.17953	T	0.271373	0.04588	T	0.04515721	0.07342	0.038364127	0.03688	0.04515721	0.07342	0.038364127	0.03687	-7.002	0.54048	T	.	.	0.124	0.26232	B	.	.	0.620546	0.09889	6.650	0.63904115767669034	0.07348	0.01337	0.04602	N	AEFGBCI	0.059159	0.11153	N	-0.725181857677329	0.15315	0.7707846	-0.964285812873939	0.10594	0.5345315	4.36124884812834E-4	0.06970	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.656	0.656	0.17016	0.128000	0.15636	-1.896000	0.04535	-0.377000	0.05411	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6645:0.0:0.3355	3.074	0.05863	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	110.43	39	chr7	101041315	.	C	G	110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.97;DP=1458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.77;MQRankSum=-22.37;QD=0.17;ReadPosRankSum=3.28;SOR=0.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800:.	9	0	1	0
chr7	102352069	102352069	G	C	exonic	SPDYE6	.	nonsynonymous SNV	SPDYE6:NM_001146210:exon4:c.C666G:p.D222E	.	628	887	7	0	0	7	0.00393038	.	.	.	2334523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229213880	0.0020	0.0027	0.0019	0.0021	0.0171	0.0019	0.0019	0.0127	0.0112	0.0011	0.0027	0.0229	0	0.0002	0.0171	0.0012	0.0045	0.0028	0.0026	0.0035	0.0023	0.0029	0.0069	0.0024	0.0023	0.0057	0.0053	0.0004	0	0.0069	0.0316	0	0.0005	0.0388	0.0015	0.0089	0.0064	.	.	.	0.003	0.76473	D	0.956	0.54666	P	0.742	0.55764	P	.	.	.	.	.	.	.	2.855	0.82945	M	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.3683995	0.53283	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.1795873168001415	0.17877	.	.	0.78449010849	0.79607	T	0.479663	0.80898	T	-0.0101359	0.50246	T	-0.252336	0.49585	T	.	.	.	0.929107	0.73907	D	0.20371732	0.42458	0.34103224	0.59848	0.20371732	0.42458	0.34103224	0.59848	-10.334	0.75887	D	.	.	0.876	0.81212	P	.	.	2.753762	0.36104	20.2	0.46087263666524492	0.03665	0.07735	0.13736	N	AEFI	.	.	.	.	.	.	.	.	.	7.56217457502011E-5	0.04552	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0828504	0.18924	0.453	0.453	0.15851	0.380000	0.20331	2.112000	0.30666	0.235000	0.18186	0.991000	0.37257	1.000000	0.68203	0.316000	0.24877	.	.	.	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	171.43	39	chr7	102352069	.	G	C	171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.291;DP=278;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=27.24;MQRankSum=0.067;QD=5.53;ReadPosRankSum=-1.633;SOR=0.418	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,9:31:99:0|1:102352069_G_C:183,0,691:102352069	9	0	1	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	302.73	151	chr7	102934283	.	G	C	302.73	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.272;DP=1206;ExcessHet=0.2348;FS=174.798;InbreedingCoeff=-0.2507;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.04;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:69,0:69:0:.:.:0,0,1497:.	5	0	2	3
chr7	103361983	103361983	C	T	exonic	PSMC2	.	nonsynonymous SNV	PSMC2:NM_001204453:exon5:c.C317T:p.S106L,PSMC2:NM_002803:exon5:c.C317T:p.S106L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570	0.0606119910596	.	.	1.649e-05	0	0	0	0	1.5e-05	0.0011	0	1.29e-05	2	154602	rs755796502	5.476e-06	5.472e-06	4.087e-06	6.879e-06	3.484e-05	2.36e-06	1.7e-06	9.25e-06	4.57e-06	0	0	0	2.521e-05	0	0	2.698e-06	1.656e-05	3.484e-05	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.077	0.34095	T	0.248	0.23845	T	0.127	0.26966	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	-3.43	0.94388	D	-3.36	0.66549	D	0.648	0.66101	0.096	0.84107	D	0.655	0.87985	D	10	0.5498104	0.64191	D	0.060612	0.68060	D	0.570	0.82516	0.454	0.51775	0.875779300213	0.87457	0.4183026770367697	0.41746	1.25267240054	0.81845	0.857811927795	0.90787	D	0.058592	0.30884	T	0.187402	0.72724	D	0.132044	0.79025	D	0.783567070960999	0.45274	D	0.988801	0.96255	D	0.4470836	0.63857	0.2359008	0.48847	0.4470836	0.63857	0.2359008	0.48846	-5.161	0.38543	T	.	.	0.385	0.58721	A	.;.;.;.;.	.;.;.;.;.	4.425342	0.68583	25.3	0.99609174760698682	0.74694	0.97217	0.73382	D	AEFBI	0.831693	0.75019	D	-0.0806067832526044	0.38243	2.236915	0.127244109105958	0.45948	2.849005	0.999999999165255	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	5.924000	0.69776	6.004000	0.52535	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	18.917	0.92482	691	0.58815	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4119.12	34	chr7	103361983	.	C	T	4119.12	.	AC=2;AF=0.1;AN=20;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.63;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1221	9	1	0	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I,RELN:NM_173054:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	5	1441	66	10	0	86	0.0289757	.	.	.	177377	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7|RELN-related_disorder|not_provided|not_specified	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007560	0.000000	0.004076	0.005848	0.000000	0.000000	0.012195	0.026515	0.05	1136.43	38	chr7	103557156	.	G	A	1136.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=385;ExcessHet=0;FS=1.171;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=-0.817;SOR=0.521	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	9	0	1	0
chr7	103594359	103594359	T	C	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon26:c.A3673G:p.K1225E,RELN:NM_173054:exon26:c.A3673G:p.K1225E	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1454300	Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7	MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.148	0.0181492380748	.	.	8.237e-06	0	8.643e-05	0	0	0	0	0	6.5e-06	1	154602	rs747877040	4.105e-06	4.104e-06	2.723e-06	5.501e-06	7.558e-05	1.48e-06	9.7e-07	2.004e-05	1.055e-05	0	4.472e-05	0	7.558e-05	0	0	8.994e-07	0	0	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	6.816e-05	2.853e-05	0	0	0	0	0.0004	0	0	0	0	0	0.144	0.25255	T	0.017	0.60337	D	0.982	0.66517	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999972	0.53665	D	1.735	0.44892	L	1.84	0.24656	T	-1.12	0.28906	N	0.721	0.72477	-1.0475	0.15102	T	0.115	0.40808	T	10	0.6252775	0.68206	D	0.018149	0.40116	T	0.148	0.39182	0.499	0.58991	0.409069985131	0.40521	0.6662841119196208	0.66566	0.817490752226	0.67004	0.662209510803	0.61725	T	0.10062	0.40659	T	-0.0733849	0.40784	T	-0.167342	0.57686	T	0.819967985153198	0.47770	D	0.929907	0.74113	D	0.26270232	0.49333	0.2957279	0.55605	0.26270232	0.49333	0.2957279	0.55604	-6.485	0.50171	T	0.4351934977283733	0.52166	0.518	0.65412	A	.;.;.	.;.;.	4.636507	0.73764	26.0	0.99881601073503834	0.95733	0.92663	0.56244	D	AEFBHCI	0.947911	0.95899	D	0.610314249132044	0.73828	6.03005	0.634674813153015	0.77474	6.686289	0.999999979095963	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	7.448000	0.79687	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.492	0.75347	909	0.22467	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1443.43	33	chr7	103594359	.	T	C	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=439;ExcessHet=0;FS=3.166;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.093;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1166	9	0	1	0
chr7	105106647	105106647	C	T	exonic	KMT2E	.	nonsynonymous SNV	KMT2E:NM_018682:exon19:c.C2722T:p.P908S,KMT2E:NM_182931:exon20:c.C2722T:p.P908S	.	426	1087	9	0	0	9	0.00412277	.	.	YES	1523631	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.309	0.0918667068556	0.0013	0.00199681	0.0017	0.0006	0.0028	0	0.0002	0.0022	0	0.0012	0.0017852	276	154602	rs151289792	0.0020	0.0020	0.0020	0.0020	0.0040	0.0019	0.0019	0.0027	0.0023	0.0002	0.0028	0.0002	5.039e-05	0.0001	0.0040	0.0022	0.0022	0.0014	0.0020	0.0020	0.0021	0.0018	0.0060	0.0018	0.0017	0.0050	0.0047	0.0005	0.0154	0.0060	0.0009	0	0	0.0102	0.0023	0.0038	0.0008	0.018	0.50676	D	0.086	0.40909	T	0.043	0.21573	B	0.016	0.17743	B	0.000003	0.62929	N	0.062567	1	0.81001	D	0.865	0.21413	L	-3.26	0.93587	D	-2.64	0.56630	D	0.143	0.14338	-0.1033	0.80023	T	0.521	0.82139	D	10	0.004043609	0.00079	T	0.091867	0.75787	D	0.309	0.63055	.	.	0.510879019108	0.50729	0.45288137275620616	0.45206	0.208333953422	0.23308	0.367004603148	0.20401	T	0.137282	0.47013	T	-0.260766	0.12810	T	-0.151964	0.59069	T	0.0244446069668206	0.01201	T	0.808919	0.45897	T	0.17409186	0.38194	0.16235496	0.37718	0.16874032	0.37349	0.1391424	0.33207	-2.259	0.04336	T	0.22868820990894395	0.30930	0.080	0.12084	B	.;.	.;.	2.869776	0.37944	20.6	0.86273823466737698	0.16427	0.68182	0.33706	D	AEFDBHCIJ	0.094212	0.19051	N	-0.236060694946543	0.31664	1.777748	-0.0622358928462498	0.36966	2.158116	0.999999777372347	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.34	4.46	0.53567	0.464000	0.21700	2.259000	0.31747	0.549000	0.26987	0.976000	0.34826	1.000000	0.68203	0.997000	0.79791	0.1495:0.7747:0.0:0.0758	8.762	0.33838	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004532	0.005051	0.005435	0.002924	0.000000	0.017241	0.006098	0.000000	0.05	2656.43	33	chr7	105106647	.	C	T	2656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=526;ExcessHet=0;FS=0.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.809;SOR=0.747	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1217	9	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1847.43	52	chr7	105613788	.	C	T	1847.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=524;ExcessHet=0;FS=1.347;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.207;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	9	0	1	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	401.13	131	chr7	105614066	.	G	C	401.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.742;DP=1081;ExcessHet=1.5895;FS=151.643;InbreedingCoeff=-0.2631;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.66;SOR=9.84	GT:AD:DP:GQ:PL	0/0:74,18:92:7:0,7,1586	6	0	4	0
chr7	105614758	105614758	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1204G:p.P402A,ATXN7L1:NM_001318229:exon10:c.C928G:p.P310A,ATXN7L1:NM_001385596:exon10:c.C1576G:p.P526A,ATXN7L1:NM_020725:exon10:c.C1576G:p.P526A	.	0	225	1	0	0	1	0.00221729	.	.	.	2455387	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00629405182497	.	.	.	.	.	.	.	.	.	.	.	.	.	rs896651515	5.002e-06	4.788e-06	4.23e-06	5.795e-06	0.0005	2.08e-06	1.34e-06	0.0001	7.633e-05	0	0	0	0	0	0.0005	0	6.894e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37750	T	0.232	0.38305	T	0.278	0.32022	B	0.084	0.29270	B	0.000245	0.46924	D	0.151236	0.960315	0.38379	D	0.6	0.15550	N	2.49	0.17113	T	-0.78	0.21644	N	0.21	0.24385	-1.0649	0.10572	T	0.029	0.12585	T	10	0.16823685	0.31364	T	0.006294	0.16522	T	0.009	0.00846	0.3	0.26683	0.41219620536	0.40839	0.4389527701165688	0.43812	0.407761798799	0.41625	0.562052845955	0.47557	T	0.005879	0.13088	T	-0.192329	0.21917	T	-0.498558	0.22497	T	0.263212025165558	0.23455	T	0.90231	0.65919	D	0.06355869	0.13394	0.051515605	0.08307	0.06355869	0.13394	0.051515605	0.08307	-3.807	0.21884	T	.	.	0.056	0.03128	B	.;.;.;.	.;.;.;.	2.432415	0.31291	18.70	0.97267623144826898	0.33121	0.82871	0.42042	D	AEFBCI	0.270624	0.38665	N	-0.0903620043920996	0.37814	2.205486	0.0811285743731478	0.43600	2.658423	0.997532845383999	0.35727	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.7	4.79	0.60909	2.563000	0.45585	8.641000	0.77894	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0711:0.0:0.7756:0.1533	9.491	0.38123	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2690.43	38	chr7	105614758	.	G	C	2690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=749;ExcessHet=0;FS=3.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=1.77;SOR=0.53	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr7	105875852	105875852	C	A	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001385596:exon2:c.G210T:p.E70D,ATXN7L1:NM_020725:exon2:c.G210T:p.E70D,ATXN7L1:NM_152749:exon2:c.G210T:p.E70D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00864304565198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.336	0.54934	T	0.384	0.34453	B	0.101	0.30765	B	0.012359	0.29204	N	0.210692	1	0.81001	D	1.09	0.27330	L	1.31	0.35405	T	-0.66	0.24898	N	0.393	0.43417	-1.0846	0.06480	T	0.074	0.29739	T	10	0.2060906	0.36858	T	0.008643	0.22829	T	0.032	0.07718	0.189	0.09907	0.67860767372	0.67587	0.21046762219100848	0.20962	0.595986134547	0.54857	0.695517539978	0.66497	T	0.005046	0.04473	T	-0.180387	0.23677	T	-0.49689	0.22670	T	0.469794481992722	0.31523	T	0.843516	0.52087	T	0.16754141	0.37156	0.12650251	0.30467	0.16754141	0.37156	0.12650251	0.30466	-3.555	0.20089	T	.	.	0.122	0.38263	B	.;.	.;.	4.834611	0.78871	27.0	0.99771693374704029	0.85918	0.82504	0.41722	D	AEFBCI	0.515675	0.54253	D	0.0875987388783515	0.45884	2.837651	0.254872136132378	0.52928	3.464396	0.999999991401464	0.74766	0.542737	0.22433	0	0.563428	0.19063	0	0.685571	0.62057	0	0.665054	0.64577	0	.	.	5.56	5.56	0.83678	2.761000	0.47270	7.662000	0.64290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9253:0.0:0.0747	12.812	0.57025	719	0.55657	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1325.43	45	chr7	105875852	.	C	A	1325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.566;DP=494;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-0.324;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	9	0	1	0
chr7	106017935	106017935	C	T	exonic	CDHR3	.	nonsynonymous SNV	CDHR3:NM_001301161:exon11:c.C1252T:p.L418F,CDHR3:NM_152750:exon12:c.C1516T:p.L506F	.	428	1081	13	0	0	13	0.00597701	.	.	.	1284223	Susceptibility_to_nonsyndromic_otitis_media|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.408	.	0.0045	0.00359425	0.0062	0.0021	0.0071	0	0.0032	0.0088	0.0129	0.0016	0.0045666	706	154602	rs76067797	0.0049	0.0049	0.0049	0.0049	0.0177	0.0048	0.0047	0.0149	0.0139	0.0019	0.0050	0.0066	7.56e-05	0.0031	0.0177	0.0053	0.0056	0.0022	0.0042	0.0042	0.0044	0.0039	0.0061	0.0039	0.0038	0.0057	0.0055	0.0014	0	0.0044	0.0046	0.0002	0.0040	0.0204	0.0061	0.0090	0.0008	0.044	0.44029	D	0.051	0.47828	T	0.884	0.48618	P	0.622	0.51475	P	0.273709	0.03788	N	1.539750	1	0.08975	N	1.7	0.43825	L	-1.66	0.82715	D	-1.04	0.27876	N	0.071	0.04426	-0.5679	0.66099	T	0.431	0.77284	T	10	0.004099518	0.00080	T	.	.	.	0.408	0.72022	.	.	0.624018827985	0.62096	0.08811006681072454	0.08744	0.0395402123316	0.04217	0.210277408361	0.00823	T	0.003737	0.13282	T	-0.421169	0.01681	T	-0.375284	0.36272	T	0.0159610453110415	0.00379	T	0.508249	0.16760	T	0.0897766	0.20988	0.082048506	0.18695	0.0897766	0.20988	0.082048506	0.18694	-5.089	0.37791	T	.	.	0.073	0.05756	B	.;.	.;.	1.581865	0.20241	14.66	0.99604673751152728	0.74397	0.07323	0.13344	N	AEFDBHCIJ	0.063896	0.12377	N	-0.332726579874717	0.27912	1.535229	-0.515309838379762	0.21738	1.177336	0.999999985873122	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.48	-1.88	0.07294	-0.149000	0.10189	0.256000	0.16486	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.969000	0.54022	0.3165:0.3288:0.2086:0.1462	1.712	0.02718	925	0.17918	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.020202	0.020380	0.035088	0.000000	0.025862	0.015244	0.011364	0.05	1903.43	36	chr7	106017935	.	C	T	1903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=477;ExcessHet=0;FS=1.279;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.005;SOR=0.848	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr7	107298193	107298193	T	C	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon5:c.A548G:p.H183R,COG5:NM_001379515:exon7:c.A692G:p.H231R,COG5:NM_001161520:exon12:c.A1262G:p.H421R,COG5:NM_001379511:exon12:c.A1262G:p.H421R,COG5:NM_001379512:exon12:c.A1262G:p.H421R,COG5:NM_001379513:exon12:c.A1262G:p.H421R,COG5:NM_001379514:exon12:c.A1262G:p.H421R,COG5:NM_006348:exon12:c.A1262G:p.H421R,COG5:NM_181733:exon12:c.A1262G:p.H421R	Congenital disorder of glycosylation, type IIi	8	1477	34	3	0	40	0.0133601	.	.	.	309238	not_provided|COG5-congenital_disorder_of_glycosylation|COG5-related_disorder	MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	.	0.0032	0.00359425	0.0034	0.0008	0.0021	0	0.0008	0.0044	0.0088	0.0046	0.0033635	520	154602	rs35393416	0.0039	0.0040	0.0038	0.0041	0.0184	0.0039	0.0038	0.0156	0.0145	0.0005	0.0024	0.0031	2.524e-05	0.0014	0.0184	0.0042	0.0048	0.0049	0.0028	0.0028	0.0030	0.0026	0.0046	0.0026	0.0025	0.0042	0.0040	0.0006	0	0.0027	0.0037	0	0.0004	0.0102	0.0046	0.0038	0.0041	0.345	0.15303	T	0.374	0.16280	T	0.006	0.15535	B	0.01	0.19966	B	0.045775	0.23504	N	0.497022	1	0.08975	N	0.895	0.22405	L	0.67	0.52187	T	-0.68	0.19720	N	0.306	0.34552	-1.0478	0.15016	T	0.057	0.23791	T	10	0.0037671328	0.00070	T	.	.	.	0.043	0.11576	.	.	0.526539220858	0.52300	0.28366215763521374	0.28279	0.0637909203938	0.07108	0.374383628368	0.21458	T	0.004263	0.03670	T	-0.512833	0.00484	T	-0.508472	0.21472	T	0.0047717878686339	0.00051	T	0.633837	0.24812	T	0.04289514	0.06590	0.047563996	0.06880	0.03286603	0.03394	0.04435043	0.05725	-2.74	0.08028	T	.	.	0.073	0.05623	B	.;.;.	.;.;.	1.314671	0.17179	13.01	0.65716210919453166	0.07851	0.43873	0.27194	N	AEFGI	0.123842	0.23963	N	-0.794909827317595	0.13442	0.6622209	-0.697013875268555	0.17035	0.903974	0.826393147105066	0.24614	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.633917	0.49826	0	.	.	5.68	4.52	0.54797	1.859000	0.39058	3.534000	0.38969	-0.128000	0.13240	0.744000	0.29069	1.000000	0.68203	0.884000	0.42379	0.1327:0.0:0.1391:0.7282	8.252	0.30891	666	0.61362	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.020202	0.005435	0.005848	0.000000	0.025862	0.030488	0.011364	0.05	893.43	33	chr7	107298193	.	T	C	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=379;ExcessHet=0;FS=2.006;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.33;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	9	0	1	0
chr7	107324511	107324511	G	A	exonic	COG5	.	nonsynonymous SNV	COG5:NM_001379516:exon4:c.C323T:p.P108L,COG5:NM_001161520:exon11:c.C1037T:p.P346L,COG5:NM_001379511:exon11:c.C1037T:p.P346L,COG5:NM_001379512:exon11:c.C1037T:p.P346L,COG5:NM_001379513:exon11:c.C1037T:p.P346L,COG5:NM_001379514:exon11:c.C1037T:p.P346L,COG5:NM_006348:exon11:c.C1037T:p.P346L,COG5:NM_181733:exon11:c.C1037T:p.P346L	Congenital disorder of glycosylation, type IIi	124	1394	4	0	0	4	0.00143266	.	.	.	270301	COG5-related_disorder|Inborn_genetic_diseases|not_provided|COG5-congenital_disorder_of_glycosylation	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013325,MedGen:C3150876,OMIM:613612,Orphanet:263487	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.0254403389719	0.0008	0.000199681	0.0009	0.0009	0.0014	0.0001	0	0.0011	0.0022	0.0001	0.0008085	125	154602	rs143773937	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0005	0.0009	0.0007	0.0004	0.0007	0.0113	7.62e-05	0	0.0017	0.0003	0.0014	0.0002	0.0006	0.0006	0.0007	0.0006	0.0006	0.0005	0.0005	0.0004	0.0003	0.0006	0	0.0005	0.0101	0.0002	0	0	0.0004	0.0005	0	0.029	0.47320	D	0.061	0.45744	T	0.103	0.29693	B	0.017	0.25551	B	0.015353	0.28271	N	0.422656	0.999979	0.53665	D	2.2	0.62015	M	0.44	0.56609	T	-3.68	0.70314	D	0.203	0.27910	-0.8445	0.52345	T	0.168	0.50697	T	10	0.005508989	0.00122	T	0.02544	0.48409	D	0.087	0.25287	.	.	0.56874858234	0.56539	0.28237833917633737	0.28150	0.0638151823165	0.07108	0.288906216621	0.08763	T	0.111347	0.42676	T	-0.363668	0.03927	T	-0.365319	0.37437	T	0.0427339328725148	0.04188	T	0.906609	0.67067	D	0.22645898	0.45327	0.15863706	0.37035	0.22645898	0.45327	0.15863706	0.37035	-6.457	0.49953	T	.	.	0.093	0.13923	B	.;.;.	.;.;.	3.244757	0.44309	21.9	0.978183391629321	0.36174	0.89939	0.50738	D	AEFBI	0.424515	0.48966	N	0.133827866328755	0.48045	3.022048	0.257369859696174	0.53071	3.477843	0.999999788860004	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.241000	0.65206	7.513000	0.59647	0.669000	0.69127	0.998000	0.41325	1.000000	0.68203	0.945000	0.48827	0.0:0.0:1.0:0.0	16.949	0.86110	622	0.65860	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003040	0.000000	0.005450	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	160.43	33	chr7	107324511	.	G	A	160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.022;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=0.389;SOR=0.599	GT:AD:DP:GQ:PL	0/0:13,0:13:39:0,39,362	9	0	1	0
chr7	107701183	107701183	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon16:c.T1790C:p.L597S	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	6	1425	85	6	0	97	0.0329148	.	.	YES	52694	Pendred_syndrome|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:CN169374|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.848	.	0.0063	0.00858626	0.0083	0.0013	0.0025	0	0.0011	0.0075	0.0044	0.0272	0.008137	1258	154602	rs55638457	0.0086	0.0087	0.0078	0.0094	0.0294	0.0085	0.0084	0.0285	0.0281	0.0013	0.0026	0.0204	0	0.0008	0.0166	0.0078	0.0083	0.0294	0.0062	0.0062	0.0061	0.0064	0.0282	0.0059	0.0058	0.0244	0.0229	0.0011	0	0.0069	0.0202	0.0004	0.0010	0.0170	0.0081	0.0099	0.0282	0.002	0.72154	D	0.072	0.43344	T	0.999	0.77913	D	0.987	0.77487	D	0.000026	0.55875	D	0.000000	0.996546	0.43267	D	2.005	0.54552	M	-3.23	0.93414	D	-4.43	0.77554	D	0.751	0.75009	0.778	0.94144	D	0.855	0.95166	D	10	0.008705229	0.00197	T	.	.	.	0.848	0.95286	.	.	0.993411842951	0.99333	0.7146361969492586	0.71406	0.0744065334722	0.08345	0.599259257317	0.52800	T	0.52255	0.83330	D	0.109073	0.65256	D	0.404849	0.92270	D	0.0128156377420309	0.00218	T	0.80172	0.44782	T	0.655183	0.75640	0.7329923	0.84221	0.6963972	0.77861	0.72609085	0.83821	-11.425	0.81937	D	0.3751398837757109	0.47022	0.915	0.83794	P	.;.	.;.	5.023850	0.83509	28.1	0.99875485699813071	0.95244	0.96669	0.70311	D	AEBI	0.844122	0.76110	D	0.665602469293769	0.77382	6.663954	0.656390780406368	0.79086	7.008897	0.999997293239954	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	5.72	5.72	0.89380	6.175000	0.71875	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.000	0.80080	772	0.48957	STAS domain|STAS domain;STAS domain|STAS domain	.	.	.	.	rs55638457	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.014099	0.000000	0.006793	0.011696	0.050000	0.017241	0.024390	0.034091	0.05	1020.43	67	chr7	107701183	.	T	C	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.569;DP=379;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.748;SOR=0.507	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr7	107710154	107710154	G	T	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon19:c.G2190T:p.Q730H	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	52712	not_specified|Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MedGen:CN169374|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.464	0.144085767953	0.0009	0.00159744	0.0004	0.0036	0.0006	0	0	0	0.0011	0	0.0003493	54	154602	rs142723249	0.0001	0.0001	0.0001	0.0001	0.0035	9.905e-05	9.313e-05	0.0030	0.0028	0.0035	0.0003	0	0	0	0.0010	5.417e-06	0.0003	2.322e-05	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	0.0005	0	0	0	0	4.411e-05	0.0005	0	0.048	0.40068	D	0.152	0.32249	T	0.005	0.12996	B	0.004	0.10090	B	0.001458	0.38980	N	0.216865	0.84646	0.36303	D	0.895	0.22405	L	-3.3	0.93787	D	-2.19	0.49352	N	0.74	0.74007	0.224	0.86309	D	0.631	0.87061	D	10	0.009727389	0.00219	T	0.144086	0.82636	D	0.464	0.76023	0.425	0.47021	0.986051744444	0.98589	0.6701603276162149	0.66954	0.0111280690026	0.01037	0.344690144062	0.17137	T	0.211637	0.57247	T	-0.180018	0.23733	T	-0.0328332	0.68180	D	0.0186963193411336	0.00582	T	0.606339	0.22814	T	0.31677297	0.54366	0.24181624	0.49588	0.2886583	0.51868	0.25025523	0.50612	-7.283	0.56074	T	0.1543552066684281	0.18429	0.179	0.39064	B	.;.	.;.	3.482047	0.48628	22.6	0.99349218209833645	0.60493	0.90734	0.52160	D	AEFGI	0.523134	0.54686	D	0.00745169770468802	0.42193	2.537692	0.195615606134908	0.49605	3.161806	0.992834016252695	0.32986	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	3.779000	0.55085	9.959000	0.82782	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0737:0.0:0.9263:0.0	13.051	0.58366	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1284.43	36	chr7	107710154	.	G	T	1284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.484;DP=451;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.604;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	9	0	1	0
chr7	108079741	108079741	C	A	exonic	LAMB4	.	stopgain	LAMB4:NM_001318046:exon15:c.G1747T:p.G583X,LAMB4:NM_001318047:exon15:c.G1747T:p.G583X,LAMB4:NM_001318048:exon15:c.G1747T:p.G583X,LAMB4:NM_007356:exon15:c.G1747T:p.G583X	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000798722	0.0006	9.783e-05	0	0	0	0.0003	0	0.0035	0.0004981	77	154602	rs149878640	0.0003	0.0003	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	0	2.289e-05	7.712e-05	0	0	0.0028	0.0001	0.0004	0.0032	0.0002	0.0002	0.0002	0.0002	0.0035	0.0001	0.0001	0.0022	0.0018	0	0	0	0	0	0	0	0.0001	0.0005	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	0.061992	0.22130	N	0.310467	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.213	0.23758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0781165	0.40020	T	0.11165	0.77681	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	6.001381	0.94308	34	0.96873915662835741	0.31430	0.17458	0.19846	N	AEFDGBHCI	0.039964	0.05879	N	-0.16958539694304	0.34404	1.963363	-0.444445098587172	0.23706	1.294242	0.999999999528665	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.31	-1.69	0.07747	0.332000	0.19494	-0.269000	0.10363	-1.066000	0.01605	0.906000	0.31575	0.000000	0.08366	0.702000	0.34203	0.1586:0.2147:0.3501:0.2766	1.507	0.02339	717	0.55835	Laminin IV type B;Laminin IV type B;Laminin IV type B	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	1730.43	34	chr7	108079741	.	C	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.748;DP=449;ExcessHet=0;FS=3.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=1.83;SOR=0.953	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1266	9	0	1	0
chr7	108180279	108180279	T	C	exonic	NRCAM	.	nonsynonymous SNV	NRCAM:NM_001371182:exon20:c.A2690G:p.N897S,NRCAM:NM_001371137:exon21:c.A1838G:p.N613S,NRCAM:NM_001371180:exon21:c.A2477G:p.N826S,NRCAM:NM_001371148:exon22:c.A2477G:p.N826S,NRCAM:NM_001371151:exon22:c.A2747G:p.N916S,NRCAM:NM_001371164:exon22:c.A2450G:p.N817S,NRCAM:NM_001371170:exon22:c.A2477G:p.N826S,NRCAM:NM_001371176:exon22:c.A2747G:p.N916S,NRCAM:NM_001371178:exon22:c.A2747G:p.N916S,NRCAM:NM_001371181:exon22:c.A2738G:p.N913S,NRCAM:NM_001371125:exon23:c.A2450G:p.N817S,NRCAM:NM_001371134:exon23:c.A2744G:p.N915S,NRCAM:NM_001371136:exon23:c.A2747G:p.N916S,NRCAM:NM_001371143:exon23:c.A2450G:p.N817S,NRCAM:NM_001371152:exon23:c.A2747G:p.N916S,NRCAM:NM_001371157:exon23:c.A2747G:p.N916S,NRCAM:NM_001371175:exon23:c.A2747G:p.N916S,NRCAM:NM_001371177:exon23:c.A2738G:p.N913S,NRCAM:NM_001371179:exon23:c.A2477G:p.N826S,NRCAM:NM_005010:exon23:c.A2747G:p.N916S,NRCAM:NM_001193583:exon24:c.A2738G:p.N913S,NRCAM:NM_001193584:exon24:c.A2738G:p.N913S,NRCAM:NM_001371119:exon24:c.A2738G:p.N913S,NRCAM:NM_001371122:exon24:c.A2738G:p.N913S,NRCAM:NM_001371124:exon24:c.A2738G:p.N913S,NRCAM:NM_001371129:exon24:c.A2738G:p.N913S,NRCAM:NM_001371130:exon24:c.A2747G:p.N916S,NRCAM:NM_001371133:exon24:c.A2747G:p.N916S,NRCAM:NM_001371135:exon24:c.A2738G:p.N913S,NRCAM:NM_001371140:exon24:c.A2738G:p.N913S,NRCAM:NM_001371142:exon24:c.A2450G:p.N817S,NRCAM:NM_001371145:exon24:c.A2738G:p.N913S,NRCAM:NM_001371146:exon24:c.A2738G:p.N913S,NRCAM:NM_001371147:exon24:c.A2450G:p.N817S,NRCAM:NM_001371150:exon24:c.A2765G:p.N922S,NRCAM:NM_001371154:exon24:c.A2738G:p.N913S,NRCAM:NM_001371158:exon24:c.A2738G:p.N913S,NRCAM:NM_001371159:exon24:c.A2765G:p.N922S,NRCAM:NM_001371160:exon24:c.A2777G:p.N926S,NRCAM:NM_001371171:exon24:c.A2747G:p.N916S,NRCAM:NM_001371172:exon24:c.A2738G:p.N913S,NRCAM:NM_001371174:exon24:c.A2765G:p.N922S,NRCAM:NM_001037132:exon25:c.A2795G:p.N932S,NRCAM:NM_001193582:exon25:c.A2795G:p.N932S,NRCAM:NM_001371123:exon25:c.A2795G:p.N932S,NRCAM:NM_001371126:exon25:c.A2738G:p.N913S,NRCAM:NM_001371127:exon25:c.A2792G:p.N931S,NRCAM:NM_001371132:exon25:c.A2738G:p.N913S,NRCAM:NM_001371138:exon25:c.A2795G:p.N932S,NRCAM:NM_001371139:exon25:c.A2738G:p.N913S,NRCAM:NM_001371141:exon25:c.A2738G:p.N913S,NRCAM:NM_001371149:exon25:c.A2795G:p.N932S,NRCAM:NM_001371156:exon25:c.A2795G:p.N932S,NRCAM:NM_001371161:exon25:c.A2795G:p.N932S,NRCAM:NM_001371162:exon25:c.A2738G:p.N913S,NRCAM:NM_001371166:exon25:c.A2738G:p.N913S,NRCAM:NM_001371167:exon25:c.A2738G:p.N913S,NRCAM:NM_001371169:exon25:c.A2795G:p.N932S,NRCAM:NM_001371173:exon25:c.A2795G:p.N932S,NRCAM:NM_001371128:exon26:c.A2795G:p.N932S,NRCAM:NM_001371131:exon26:c.A2795G:p.N932S,NRCAM:NM_001371144:exon26:c.A2795G:p.N932S,NRCAM:NM_001371153:exon26:c.A2795G:p.N932S,NRCAM:NM_001371155:exon26:c.A2738G:p.N913S,NRCAM:NM_001371163:exon26:c.A2738G:p.N913S,NRCAM:NM_001371165:exon26:c.A2738G:p.N913S,NRCAM:NM_001371168:exon26:c.A2795G:p.N932S	.	.	.	.	.	.	.	.	.	.	.	2356578	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.465	0.026708380174	.	.	8.241e-05	9.617e-05	8.642e-05	0.0007	0	2.999e-05	0	0	6.47e-05	10	154602	rs199867432	4.925e-05	4.925e-05	5.581e-05	4.263e-05	0.0002	3.992e-05	3.669e-05	7.712e-05	5.305e-05	0.0002	8.944e-05	0	0.0001	0	0.0002	4.317e-05	9.934e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.167e-05	6.724e-05	0.0001	9.935e-05	0.0002	0	0	0	0.0002	0	0	0.0001	0.0005	0	0.012	0.54683	D	0.006	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	0.11	0.61208	T	-4.05	0.74504	D	0.735	0.81559	-0.1459	0.79018	T	0.404	0.75437	T	10	0.590289	0.66341	D	0.026708	0.49594	D	0.465	0.76089	.	.	0.765792700882	0.76365	0.8648142440309382	0.86445	0.318620883325	0.34082	0.620376229286	0.55782	T	0.54738	0.84612	D	-0.201464	0.20594	T	-0.218298	0.52901	T	0.312669605016708	0.25523	T	0.948805	0.80311	D	0.33950803	0.56240	0.32346222	0.58277	0.33950803	0.56240	0.32346222	0.58277	-11.131	0.82977	D	.	.	0.605	0.71546	P	.;.;.;.;.;.	.;.;.;.;.;.	4.500296	0.70384	25.5	0.9989048190718014	0.96436	0.98009	0.78839	D	AEFDBI	0.750914	0.69189	D	0.667798188665547	0.77524	6.691462	0.664769411246713	0.79714	7.141253	0.999999999169204	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.56	5.56	0.83678	6.274000	0.72607	6.175000	0.54547	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	15.706	0.77337	685	0.59416	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	518.43	34	chr7	108180279	.	T	C	518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=374;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=0.069;SOR=0.559	GT:AD:DP:GQ:PL	0/1:33,26:59:99:530,0,718	9	0	1	0
chr7	108573295	108573295	C	T	exonic	DNAJB9	.	nonsynonymous SNV	DNAJB9:NM_012328:exon3:c.C614T:p.T205I	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.0503463943153	7.7e-05	0.00159744	0.0011	9.919e-05	0.0003	0	0	1.508e-05	0.0045	0.0076	0.0008926	138	154602	rs149830505	0.0005	0.0005	0.0003	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	2.256e-05	0	0	0	0.0002	1.08e-05	0.0005	0.0075	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	4.813e-05	0	0.0001	0	0	0	0	8.822e-05	0	0.0087	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.135	0.59519	M	0.04	0.62051	T	-3.55	0.68764	D	0.701	0.70527	-0.2253	0.77011	T	0.451	0.78526	T	9	0.011724949	0.00255	T	0.050346	0.64202	D	0.417	0.72705	.	.	0.871338674743	0.87008	0.6388483140659577	0.63818	0.0804335868043	0.09048	0.837632000446	0.87733	D	0.201927	0.55995	T	-0.0950034	0.37250	T	0.0950427	0.76579	D	0.124678432114268	0.14882	T	0.943706	0.78720	D	0.67723936	0.76820	0.6201236	0.77873	0.67723936	0.76822	0.6201236	0.77874	-10.827	0.78701	D	.	.	0.958	0.87815	P	.	.	4.763672	0.77037	26.6	0.99887909880658698	0.96281	0.99094	0.91137	D	AEFDBI	0.926250	0.90706	D	0.836727476226969	0.88341	9.541633	0.834286892232093	0.92065	11.21757	0.999999999999999	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.457000	0.79807	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.190	0.93648	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1306.43	34	chr7	108573295	.	C	T	1306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.897;DP=440;ExcessHet=0;FS=2.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=-0.119;SOR=0.948	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1040	9	0	1	0
chr7	111122873	111122873	C	T	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.C101T:p.T34M,LRRN3:NM_001099658:exon3:c.C101T:p.T34M,LRRN3:NM_001099660:exon4:c.C101T:p.T34M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.079689806759	.	.	2.474e-05	9.61e-05	0	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs761418614	3.147e-05	3.215e-05	2.587e-05	3.713e-05	3.478e-05	2.413e-05	2.158e-05	2.201e-05	1.942e-05	0	2.237e-05	0	2.52e-05	0	0	3.058e-05	0.0001	3.478e-05	4.601e-05	4.597e-05	5.139e-05	4.037e-05	0.0002	2.11e-05	1.527e-05	2.263e-05	9.08e-06	2.413e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0002	0.034	0.44029	D	0.059	0.45961	T	0.329	0.33227	B	0.039	0.23607	B	0.000364	0.45194	D	0.096235	1	0.81001	D	0.69	0.16971	N	-4.09	0.96627	D	-0.57	0.17210	N	0.208	0.23125	0.273	0.87119	D	0.776	0.92384	D	10	0.33893117	0.50989	T	0.07969	0.73291	D	0.414	0.72479	.	.	0.679853016295	0.67712	0.41487459834368057	0.41403	0.267841764005	0.29320	0.354496896267	0.18582	T	0.024621	0.18566	T	-0.0284634	0.47639	T	-0.0971343	0.63618	T	0.080956391555986	0.10109	T	0.772323	0.43319	T	0.046802554	0.07894	0.051420618	0.08271	0.046802554	0.07894	0.051420618	0.08271	-6.008	0.46347	T	.	.	0.083	0.09820	B	.;.;.;.	.;.;.;.	3.664715	0.52079	23.2	0.93899605952803056	0.23928	0.76942	0.37779	D	AEFGBI	0.134866	0.25502	N	0.156069934407052	0.49100	3.114187	0.317126678108681	0.56546	3.818041	0.2021737843554	0.18137	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	2.409000	0.44236	7.716000	0.67067	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.937000	0.47636	0.0:0.8923:0.0:0.1077	11.359	0.48871	628	0.65206	Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain|Leucine-rich repeat N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2750.43	33	chr7	111122873	.	C	T	2750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.182;DP=539;ExcessHet=0;FS=2.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.133;SOR=0.541	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	9	0	1	0
chr7	113878825	113878825	G	A	exonic	PPP1R3A	.	nonsynonymous SNV	PPP1R3A:NM_002711:exon4:c.C2267T:p.P756L	Insulin resistance, severe, digenic, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	380221	Monogenic_diabetes	MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.428	0.038828040426	0.0011	0.00259585	0.0008	0.0027	0.0024	0	0	0.0005	0.0033	0.0001	0.0008021	124	154602	rs151310594	0.0005	0.0005	0.0005	0.0005	0.0025	0.0005	0.0005	0.0021	0.0020	0.0025	0.0025	0.0023	0	0	0.0016	0.0003	0.0016	0.0002	0.0017	0.0017	0.0018	0.0016	0.0061	0.0016	0.0015	0.0051	0.0047	0.0029	0	0.0061	0.0017	0	0	0.0102	0.0004	0.0043	0.0002	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000167	0.48594	D	0.090971	0.999995	0.58761	D	1.845	0.48678	L	0.38	0.57575	T	-4.24	0.76015	D	0.46	0.49692	-0.4205	0.71376	T	0.292	0.66364	T	10	0.0126564205	0.00271	T	0.038828	0.58453	D	0.428	0.73517	.	.	0.888805164886	0.88770	0.4253781106047073	0.42454	0.310035681446	0.33317	0.569407403469	0.48594	T	0.579839	0.86224	D	-0.16811	0.25519	T	-0.0191813	0.69082	D	0.0309679511578892	0.02142	T	0.854215	0.54045	D	0.50770956	0.67546	0.60386425	0.76976	0.50770956	0.67547	0.60386425	0.76977	-3.044	0.10663	T	.	.	0.403	0.59755	A	.	.	4.566351	0.72000	25.8	0.99899547572888459	0.97199	0.97734	0.76747	D	AEFBI	0.826469	0.74595	D	0.852800970584473	0.89268	9.902186	0.841376273097822	0.92501	11.46371	0.998053994870741	0.36367	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	6.580000	0.73930	11.935000	0.99966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	20.263	0.98454	802	0.44336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.040404	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2984.43	153	chr7	113878825	.	G	A	2984.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=1343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=1.61;SOR=0.728	GT:AD:DP:GQ:PL	0/0:116,0:116:99:0,120,1800	9	0	1	0
chr7	114979583	114979583	G	A	exonic	MDFIC	.	nonsynonymous SNV	MDFIC:NM_001166345:exon4:c.G295A:p.G99S,MDFIC:NM_199072:exon4:c.G622A:p.G208S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0121354042914	.	0.000599042	0.0004	0	0	0	0	0	0	0.0026	0.0002975	46	154602	rs548881845	0.0002	0.0002	8.44e-05	0.0003	0.0025	0.0002	0.0001	0.0022	0.0021	2.987e-05	2.236e-05	0	0	0	0	2.788e-05	8.279e-05	0.0025	0.0001	0.0001	0.0001	0.0002	0.0044	9.147e-05	7.703e-05	0.0029	0.0025	0	0	0	0	0	0	0	0	0	0.0044	0.021	0.49117	D	0.052	0.47581	T	0.196	0.29532	B	0.051	0.25434	B	0.015223	0.28305	N	0.319263	0.649231	0.32948	D	1.6	0.40776	L	.	.	.	-3.04	0.80943	D	0.201	0.22228	-0.9702	0.37157	T	0.144	0.46714	T	9	0.0062813163	0.00142	T	0.012135	0.30425	T	0.092	0.26621	0.333	0.32005	0.278143212241	0.27437	0.43147429968299356	0.43064	.	.	0.348769247532	0.17741	T	0.334799	0.70449	T	-0.326329	0.06392	T	-0.246763	0.50136	T	0.118909111224193	0.14324	T	0.783522	0.42899	T	0.18291563	0.39533	0.12875122	0.30970	0.18291563	0.39533	0.12875122	0.30969	-5.498	0.41849	T	.	.	0.076	0.12891	B	.;.;.;.;.	.;.;.;.;.	1.912160	0.24286	16.34	0.99606107336148597	0.74516	0.69246	0.34112	D	ALL	0.179751	0.30704	N	-0.237509634428962	0.31604	1.773863	-0.148008306766491	0.33484	1.915904	1.0	0.98316	0.839682	0.99964	0	0.696144	0.67643	0	0.693117	0.63056	0	0.830532	0.99962	0	.	.	5.98	3.14	0.35196	1.733000	0.37779	1.120000	0.24235	0.618000	0.50648	0.981000	0.35396	0.613000	0.25778	0.944000	0.48669	0.1349:0.0:0.7227:0.1424	8.015	0.29539	769	0.49307	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1609.12	35	chr7	114979583	.	G	A	1609.12	.	AC=2;AF=0.1;AN=20;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.84;SOR=2.078	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	1	0	0
chr7	115940588	115940588	C	T	exonic	TFEC	.	nonsynonymous SNV	TFEC:NM_001244583:exon6:c.G806A:p.R269K,TFEC:NM_001018058:exon7:c.G920A:p.R307K,TFEC:NM_012252:exon8:c.G1007A:p.R336K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00672361333901	.	.	8.314e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs755037902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.32610	T	0.087	0.40747	T	0.014	0.16867	B	0.017	0.18140	B	0.000002	0.62929	N	0.131966	0.999995	0.81001	D	2.725	0.79712	M	-0.28	0.67543	T	-1.6	0.38540	N	0.227	0.30800	-0.6536	0.62556	T	0.267	0.63865	T	10	0.17662531	0.32656	T	0.006724	0.17756	T	0.080	0.23350	0.327	0.31034	0.533469874242	0.52997	0.2951896840189321	0.29431	0.0606905089599	0.06755	0.528780817986	0.42862	T	0.677672	0.90501	D	-0.0348235	0.46714	T	-0.287798	0.46000	T	0.576164662837982	0.35471	D	0.854315	0.59928	D	0.3249751	0.55056	0.25983298	0.51738	0.3249751	0.55056	0.25983298	0.51737	-9.525	0.72748	D	.	.	0.128	0.35098	B	.;.;.	.;.;.	3.331848	0.45867	22.2	0.98473839442468714	0.41896	0.98634	0.84950	D	AEFDBHI	0.818194	0.73950	D	-0.00811459366157302	0.41488	2.482425	0.115848358846252	0.45358	2.800452	0.99999932216484	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.09	4.2	0.48814	4.364000	0.59253	1.583000	0.27486	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9245:0.0:0.0755	13.737	0.62309	710	0.56735	.;MiT/TFE transcription factors, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1073.43	34	chr7	115940588	.	C	T	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.634;DP=413;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.728;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	9	0	1	0
chr7	117384751	117384751	A	G	exonic	ASZ1	.	nonsynonymous SNV	ASZ1:NM_001301822:exon5:c.T38C:p.I13T,ASZ1:NM_001301821:exon6:c.T662C:p.I221T,ASZ1:NM_130768:exon6:c.T662C:p.I221T	.	.	.	.	.	.	.	.	.	.	.	2356358	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.0675848521639	.	.	5.791e-05	0	0.0005	0	0	0	0	6.089e-05	4.53e-05	7	154602	rs780891217	3.905e-05	3.967e-05	4.226e-05	3.58e-05	0.0005	3.051e-05	2.787e-05	0.0003	0.0002	0	0.0005	0	0	0	0	1.8e-05	0.0001	9.294e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.171e-05	6.727e-05	0.0007	0.0005	7.24e-05	0	0.0010	0	0	0	0	0	0	0	0.002	0.72154	D	0.036	0.52060	D	0.954	0.54400	P	0.424	0.45210	B	0.000126	0.49741	D	0.205081	0.999591	0.47742	D	2.215	0.62545	M	-0.67	0.72458	T	-3.18	0.64478	D	0.775	0.77226	-0.4682	0.69788	T	0.306	0.67712	T	10	0.49768946	0.61363	T	0.067585	0.70207	D	0.493	0.77910	0.379	0.39482	0.73115129609	0.72875	0.33401659238892	0.33314	0.0878256601607	0.09913	0.605622768402	0.53698	T	0.352723	0.72012	T	-0.0658821	0.41983	T	-0.0306902	0.68322	D	0.117653913950862	0.14198	T	0.850615	0.53448	D	0.34773692	0.56891	0.35679978	0.61185	0.34773692	0.56891	0.35679978	0.61185	-8.262	0.62842	D	.	.	0.193	0.41280	B	.	.	3.746835	0.53679	23.4	0.99501038396582031	0.68031	0.90518	0.51760	D	AEFDGBCIJ	0.577858	0.57929	D	0.44949747396105	0.64174	4.666178	0.469540096283827	0.65983	4.893033	0.999999462345436	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	4.68	0.58319	6.718000	0.74528	11.166000	0.87810	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.9251:0.0:0.0749:0.0	10.859	0.46024	462	0.78611	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1209.43	35	chr7	117384751	.	A	G	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.339;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.139;SOR=0.608	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr7	117542062	117542062	C	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon9:c.C1163T:p.T388M	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	3	1510	9	0	0	9	0.00297128	.	.	.	487199	CFTR-related_disorder|not_specified|not_provided|Hereditary_pancreatitis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis	MedGen:C5924204|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.601	0.423738431628	7.7e-05	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0003	0.00011	17	154602	rs143860237	0.0001	0.0001	8.381e-05	0.0001	0.0023	0.0001	9.575e-05	0.0013	0.0011	0	0.0001	0	0.0001	0	0.0023	8.078e-05	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.095e-05	5.75e-05	7.91e-05	5.995e-05	7.238e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0002	0.113	0.29158	T	0.116	0.36497	T	0.65	0.40644	P	0.1	0.30674	B	0.000000	0.84330	N	0.092382	0.999692	0.48338	D	1.26	0.31868	L	-3.03	0.92613	D	-1.06	0.27669	N	0.804	0.79986	0.235	0.86503	D	0.603	0.85872	D	10	0.2851867	0.46101	T	0.423738	0.93845	D	0.601	0.84237	.	.	0.992697746924	0.99261	0.7520671217846666	0.75153	0.00540111965589	0.00476	0.415776461363	0.27255	T	0.573689	0.85927	D	0.0795423	0.61987	D	0.186999	0.82398	D	0.0530084223274266	0.06021	T	0.90471	0.66491	D	0.17670465	0.38597	0.16910748	0.38920	0.18912923	0.40441	0.23801953	0.49113	-6.278	0.48548	T	0.5950192153524002	0.66188	0.098	0.30130	B	.;.;.;.;.	.;.;.;.;.	3.990498	0.58732	24.0	0.99025538745849717	0.50677	0.90432	0.51603	D	AEFI	0.674434	0.64016	D	0.161805877816176	0.49372	3.138372	0.26952030121205	0.53768	3.544157	0.504607880583997	0.20970	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.645665	0.59343	0	.	.	5.62	4.73	0.59485	4.064000	0.57221	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9259:0.0:0.0741	13.971	0.63755	779	0.47767	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	545.43	34	chr7	117542062	.	C	T	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.029;DP=361;ExcessHet=0;FS=2.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.926;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	9	0	1	0
chr7	123461503	123461503	G	A	exonic	IQUB	.	nonsynonymous SNV	IQUB:NM_001282855:exon11:c.C1861T:p.R621C,IQUB:NM_001321293:exon11:c.C1861T:p.R621C,IQUB:NM_178827:exon11:c.C1861T:p.R621C	.	436	1085	1	0	0	1	0.000460617	.	.	.	2393071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.0355153577127	.	.	5.801e-05	0	0	0.0003	0	1.506e-05	0	0.0002	7.76e-05	12	154602	rs765950092	6.163e-05	6.225e-05	4.769e-05	7.57e-05	0.0003	5.099e-05	4.72e-05	0.0001	0.0001	0	0.0002	0	7.562e-05	0	0.0003	4.95e-05	6.633e-05	0.0002	1.319e-05	1.314e-05	1.289e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	2.42e-05	0	0	0	0	0	0	0	0	0.0002	0.078	0.33923	T	0.101	0.38596	T	0.987	0.61912	D	0.528	0.48482	P	0.993198	0.08016	N	0.997318	1	0.08975	N	2.38	0.68558	M	1.78	0.25678	T	-2.36	0.52128	N	0.464	0.50056	-0.9970	0.30755	T	0.091	0.34928	T	10	0.30343926	0.47875	T	0.035515	0.56396	D	0.157	0.40909	0.417	0.45709	0.424073947737	0.42026	0.4299574477789291	0.42912	0.0561018571449	0.06195	0.243526190519	0.03117	T	0.065074	0.32597	T	-0.365826	0.03811	T	-0.471112	0.25397	T	0.109566401484652	0.13378	T	0.856914	0.54589	D	0.0643799	0.13653	0.05393401	0.09179	0.0643799	0.13652	0.05393401	0.09178	-2.003	0.03192	T	.	.	0.115	0.22861	B	.;.	.;.	2.640902	0.34361	19.61	0.99733812928185683	0.82975	0.16020	0.19193	N	AEFBI	0.423514	0.48907	N	0.0651932586361847	0.44843	2.751162	-0.0445030903082569	0.37730	2.213035	0.301313136645234	0.19192	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	5.94	5.94	0.96165	2.823000	0.47781	6.609000	0.56081	0.665000	0.62972	0.083000	0.22414	0.998000	0.33993	0.001000	0.02609	0.0:0.1171:0.5969:0.286	9.967	0.40905	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	845.43	33	chr7	123461503	.	G	A	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.303;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.15;SOR=0.699	GT:AD:DP:GQ:PL	0/1:32,37:69:99:857,0,705	9	0	1	0
chr7	123582083	123582083	T	C	splicing	NDUFA5	NM_001291304:exon3:c.86-2A>G	.	.	.	563	874	78	7	0	92	0.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0135783	.	.	.	.	.	.	.	.	0.0111803	291	26028	rs184260455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0095	0.0095	0.0099	0.0092	0.0329	0.0091	0.0090	0.0287	0.0272	0.0021	0.0044	0.0125	0.0421	0.0006	0.0018	0.0306	0.0118	0.0133	0.0329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	429.43	34	chr7	123582083	.	T	C	429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.238;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=0.441;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:87:0,87,1305	9	0	1	0
chr7	123627256	123627256	C	T	exonic	ASB15	.	stopgain	ASB15:NM_080928:exon7:c.C844T:p.R282X,ASB15:NM_001290258:exon9:c.C844T:p.R282X	.	432	1085	4	1	0	6	0.00275735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00898562	0.0079	0.0007	0.0500	0.0287	0.0082	0.0004	0.0089	0.0017	0.0070762	1094	154602	rs116956332	0.0029	0.0029	0.0031	0.0027	0.0451	0.0028	0.0028	0.0435	0.0428	0.0004	0.0451	0.0002	0.0339	0.0070	0.0005	0.0002	0.0029	0.0015	0.0049	0.0049	0.0041	0.0057	0.0289	0.0046	0.0045	0.0266	0.0258	0.0006	0	0.0289	0	0.0257	0.0110	0	0.0002	0.0038	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.004952	0.33236	N	0.139826	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.34	0.38129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236669	0.77349	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;Recessive;Recessive	High;High;High;High;High	8.129159	0.97211	37	0.99676919507720396	0.78977	0.88769	0.48857	D	AEFI	0.410746	0.48150	N	0.589142947540737	0.72497	5.814979	0.434929938980213	0.63754	4.615722	0.00288669013316398	0.09774	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.613276	0.41899	0	.	.	5.77	3.95	0.44952	1.543000	0.35754	1.414000	0.26305	-0.189000	0.09497	0.906000	0.31575	0.999000	0.35428	0.986000	0.61781	0.5595:0.4405:0.0:0.0	14.089	0.64506	714	0.56256	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	891.43	35	chr7	123627256	.	C	T	891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=386;ExcessHet=0;FS=4.901;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.496;SOR=1.31	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1221	9	0	1	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	80.08	41	chr7	124032238	.	T	C	80.08	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.801;DP=967;ExcessHet=0.7463;FS=125.612;InbreedingCoeff=-0.1934;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.84;SOR=9.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,99,1485:.	7	0	3	0
chr7	124032552	124032552	G	A	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.C452T:p.A151V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0093775740499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247744300	7.158e-07	1.368e-06	1.412e-06	0	3.173e-05	0	0	.	.	3.173e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.064	0.44905	T	0.064	0.23455	B	0.02	0.19048	B	.	.	.	.	0.991783	0.23983	N	1.95	0.52479	M	.	.	.	-0.93	0.24898	N	0.213	0.23758	-1.0176	0.24495	T	0.060	0.25273	T	8	0.091376424	0.16001	T	0.009378	0.24600	T	0.180	0.45073	0.241	0.17371	0.0138822411134	0.00435	0.11991789268579872	0.11918	.	.	0.751051425934	0.74602	T	0.00378	0.03191	T	-0.154629	0.27589	T	-0.45989	0.26610	T	0.090027997140362	0.11222	T	0.558444	0.19458	T	0.06542047	0.13980	0.075885415	0.16751	0.06542047	0.13979	0.075885415	0.16750	-4.931	0.36082	T	.	.	0.118	0.24226	B	.	.	1.959978	0.24899	16.57	0.99391531224533614	0.62383	0.35694	0.25361	N	AEFDBHCIJ	0.212838	0.33848	N	-0.667395572268876	0.16955	0.8683963	-0.657860360441656	0.18019	0.9607195	0.998846382803767	0.37800	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.3	1.17	0.19998	1.192000	0.31759	5.457000	0.48661	0.526000	0.24426	0.046000	0.21249	0.984000	0.30665	0.050000	0.15192	0.1523:0.0:0.5615:0.2861	3.147	0.06085	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	663.43	34	chr7	124032552	.	G	A	663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.61;SOR=0.847	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1197	9	0	1	0
chr7	124032964	124032964	T	A	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A40T:p.R14W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.329416785124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256126312	8.495e-07	3.42e-06	0	1.762e-06	3.755e-05	0	0	.	.	0	0	0	3.755e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	.	.	.	0.2	0.04861	N	0.287	0.32481	-1.0245	0.22246	T	0.063	0.26101	T	8	0.1108402	0.20731	T	0.329417	0.91707	D	0.066	0.19193	0.12	0.02719	0.223146558224	0.21909	0.36193820479637967	0.36107	.	.	0.879510760307	0.93895	D	0.004993	0.04418	T	-0.0860386	0.38727	T	-0.361365	0.37895	T	0.530307352542877	0.33745	D	0.641836	0.25394	T	0.09757604	0.23003	0.11725179	0.28304	0.09757604	0.23002	0.11725179	0.28303	-8.038	0.61329	D	.	.	0.306	0.53448	B	.	.	3.820242	0.55160	23.6	0.99694702746014963	0.80180	0.00549	0.02518	N	AEFDBHCIJ	0.050524	0.08839	N	-0.924000547837126	0.10283	0.4906266	-0.972180068989322	0.10413	0.5242845	0.999830280256427	0.43792	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	2.84	1.5	0.22029	0.837000	0.27212	-0.014000	0.13018	0.441000	0.21086	0.003000	0.16062	0.001000	0.17328	0.887000	0.42601	0.3325:0.0:0.0:0.6675	4.365	0.10655	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	572.43	33	chr7	124032964	.	T	A	572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.38;DP=235;ExcessHet=0;FS=6.043;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.62;ReadPosRankSum=-1.094;SOR=2.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:14,0:14:36:.:.:0,36,540:.	9	0	1	0
chr7	127584383	127584383	C	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon1:c.G800A:p.R267K	.	420	1043	58	1	0	60	0.027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0018	0.00638978	0.0056	0.0004	0.0016	0	0.0005	0.0026	0.0066	0.0291	0.0050517	781	154602	rs138102764	0.0034	0.0034	0.0026	0.0043	0.0279	0.0033	0.0033	0.0270	0.0266	0.0003	0.0023	0.0006	0	0.0004	0.0229	0.0019	0.0038	0.0279	0.0027	0.0027	0.0023	0.0030	0.0303	0.0024	0.0024	0.0263	0.0248	0.0006	0	0.0043	0.0009	0	0.0008	0.0102	0.0022	0.0033	0.0303	0.453	0.08917	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000667	0.42516	D	0.190780	0.999648	0.20796	N	0.485	0.13215	N	1.38	0.34050	T	0.28	0.04233	N	0.041	0.01421	-1.0614	0.11410	T	0.033	0.14247	T	10	0.0024884343	0.00037	T	.	.	.	0.039	0.10176	.	.	0.259272394797	0.25527	0.14846000036410614	0.14767	0.290926297989	0.31498	0.41342741251	0.26931	T	0.003942	0.03353	T	-0.612989	0.00121	T	-0.632343	0.10237	T	0.011415544642949	0.00170	T	0.758424	0.38228	T	0.17335048	0.38077	0.1152832	0.27828	0.17335048	0.38077	0.1152832	0.27828	-3.592	0.17742	T	.	.	0.078	0.06942	B	.	.	1.632260	0.20842	14.93	0.95869824457554875	0.28044	0.15793	0.19084	N	AEFDBCI	0.118305	0.23139	N	-0.647524857567942	0.17533	0.9029837	-0.502813967842771	0.22076	1.197333	0.999998908618464	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.91	4.85	0.62375	1.417000	0.34378	1.721000	0.28260	0.599000	0.40250	0.036000	0.20778	0.929000	0.28499	0.989000	0.64315	0.0:0.9112:0.0:0.0888	13.206	0.59220	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.000000	0.014946	0.017544	0.000000	0.017241	0.015244	0.022727	0.05	1815.43	33	chr7	127584383	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=494;ExcessHet=0;FS=2.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.701;SOR=0.762	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr7	127598540	127598540	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.C1066T:p.R356C	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0005	0.00339457	0.0023	9.653e-05	0.0002	0	0	0.0004	0	0.0154	0.0020116	311	154602	rs149091891	0.0011	0.0011	0.0007	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	2.988e-05	0.0001	0	2.521e-05	1.874e-05	0.0054	0.0002	0.0013	0.0138	0.0007	0.0007	0.0003	0.0011	0.0176	0.0006	0.0005	0.0146	0.0135	9.621e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0.0005	0.0176	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999261	0.46490	D	2.62	0.76659	M	1.38	0.34050	T	-4.87	0.81269	D	0.605	0.62273	-0.6915	0.60838	T	0.234	0.60087	T	10	0.020981848	0.00493	T	.	.	.	0.304	0.62510	.	.	0.386395597597	0.38251	0.6168742186487184	0.61619	0.134104846384	0.15106	0.377240300179	0.21864	T	0.064198	0.32372	T	-0.383752	0.02949	T	-0.311686	0.43478	T	0.138950188390139	0.16185	T	0.771723	0.40231	T	0.4420658	0.63536	0.24375392	0.49826	0.4420658	0.63536	0.24375392	0.49825	-5.092	0.37823	T	.	.	0.088	0.11893	B	.	.	3.300056	0.45293	22.1	0.99913687880934432	0.98238	0.71390	0.34992	D	ALL	0.183497	0.31082	N	0.341465775480458	0.58291	4.000429	0.276168532818719	0.54151	3.581018	0.999999999155058	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.440796	0.06475	0	0.345915	0.05782	2	.	.	5.94	4.16	0.48138	1.757000	0.38029	1.466000	0.26718	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.117000	0.19042	0.0:0.8346:0.0:0.1654	9.224	0.36554	0	0.99858	Fascin domain|Fascin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	923.43	34	chr7	127598540	.	C	T	923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=396;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.598;SOR=0.994	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	9	0	1	0
chr7	127904764	127904764	A	G	exonic	SND1	.	nonsynonymous SNV	SND1:NM_014390:exon14:c.A1472G:p.K491R	.	431	1087	4	0	0	4	0.00183655	.	.	.	2357783	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.00750382533737	0.0002	.	0.0004	0	0	0	0	0.0004	0.0011	0.0012	0.0003169	49	154602	rs144122605	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	0	0.0001	0.0021	0	0	0.0023	5.86e-05	0.0004	0.0012	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	9.701e-05	0.0005	0.0004	0	0	0.0003	0.0017	0	0	0	0.0001	0.0005	0.0012	0.113	0.28772	T	0.178	0.30926	T	0.393	0.34680	B	0.305	0.41207	B	0.000002	0.62929	D	0.132970	0.999998	0.58761	D	1.345	0.33447	L	1.56	0.29602	T	-1.72	0.44852	N	0.416	0.45615	-1.0672	0.10039	T	0.083	0.32556	T	10	0.06710884	0.09302	T	0.007504	0.19899	T	0.119	0.33137	.	.	0.476378746412	0.47268	0.6827139062357255	0.68210	0.635579275713	0.57371	0.780789375305	0.79046	T	0.074646	0.34989	T	-0.416459	0.01803	T	-0.421432	0.30912	T	0.0498448775756162	0.05473	T	0.953705	0.82322	D	0.20409663	0.42508	0.11491659	0.27740	0.20409663	0.42508	0.11491659	0.27739	-8.524	0.64588	D	.	.	0.129	0.27523	B	.;.	.;.	4.201388	0.63402	24.6	0.99692490377740417	0.80044	0.96301	0.68472	D	AEFDBI	0.800481	0.72645	D	0.303883542459497	0.56347	3.799349	0.443271240307086	0.64287	4.680329	0.999999998526599	0.74766	0.741868	0.97996	0	0.698795	0.70079	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	6.543000	0.73776	11.198000	0.88920	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.24	0.65499	829	0.39537	Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1249.43	36	chr7	127904764	.	A	G	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.153;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.007;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1087	9	0	1	0
chr7	128339294	128339294	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_018077:exon3:c.C305T:p.P102L	.	0	1512	10	0	0	10	0.00329598	.	.	.	2431603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.00319089655211	0.0002	.	0.0003	0	0.0002	0	0	0.0004	0.0011	0.0005	0.0002458	38	154602	rs138804501	0.0002	0.0002	0.0002	0.0002	0.0123	0.0002	0.0002	0.0100	0.0092	8.972e-05	0.0002	0.0013	0	1.875e-05	0.0123	9.089e-05	0.0005	0.0003	0.0001	0.0001	0.0001	9.406e-05	0.0004	6.511e-05	5.322e-05	0.0001	7.896e-05	0	0	0	0.0006	0	0	0	0.0002	0	0.0004	0.237	0.18498	T	0.331	0.18505	T	0.0	0.02946	B	0.001	0.04355	B	0.252130	0.03653	N	1.418340	1	0.08975	N	0	0.06538	N	2.81	0.33412	T	-1.39	0.64939	N	0.121	0.11197	-0.9950	0.31299	T	0.032	0.13679	T	10	0.012764573	0.00273	T	0.003191	0.06996	T	0.053	0.14996	.	.	0.0401082797425	0.02173	0.26272313448134	0.26185	0.137404868956	0.15494	0.263786971569	0.05350	T	0.006922	0.06344	T	-0.52028	0.00438	T	-0.668966	0.07675	T	0.0119551528117205	0.00187	T	0.630737	0.24588	T	0.016916445	0.00232	0.024860531	0.00514	0.016916445	0.00232	0.024860531	0.00514	-3.452	0.15766	T	.	.	0.057	0.06617	B	.;.;.	.;.;.	-1.183923	0.00547	0.013	0.79554099547628165	0.12794	0.01741	0.05494	N	AEFBI	0.031325	0.03323	N	-1.91100263353447	0.00326	0.01399773	-2.00827105045742	0.00294	0.01299188	0.999999999999985	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.86	-11.7	0.00035	-2.130000	0.01399	-0.559000	0.08487	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.385000	0.26447	0.1718:0.0:0.5988:0.2294	12.957	0.57833	648	0.63242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.008152	0.026316	0.000000	0.000000	0.000000	0.000000	0.05	417.43	33	chr7	128339294	.	G	A	417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=356;ExcessHet=0;FS=1.249;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.954;SOR=1.049	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	9	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3889	3155.34	233	chr7	128479325	.	T	C	3155.34	.	AC=7;AF=0.389;AN=18;BaseQRankSum=3.39;DP=2112;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=57.37;MQRankSum=-12.3;QD=2.18;ReadPosRankSum=-3.823;SOR=5.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:211,0:211:73:.:.:0,73,5477:.	2	0	7	1
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.4375	3209.13	233	chr7	128479326	.	G	C	3209.13	.	AC=7;AF=0.438;AN=16;BaseQRankSum=2.7;DP=2129;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=57.39;MQRankSum=-12.3;QD=2.21;ReadPosRankSum=-3.844;SOR=5.834	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:210,0:210:0:.:.:0,0,5398:.	1	0	7	2
chr7	128794377	128794382	GAGGAA	-	exonic	CCDC136	.	nonframeshift deletion	CCDC136:NM_001367766:exon2:c.46_51del:p.E25_E26del,CCDC136:NM_022742:exon2:c.46_51del:p.E25_E26del,CCDC136:NM_001201372:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001363423:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001363424:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367761:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367762:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367763:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367764:exon3:c.196_201del:p.E75_E76del,CCDC136:NM_001367765:exon3:c.46_51del:p.E25_E26del	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00399361	0.0014	0.0013	0	0.0162	0	0.0004	0.0043	0.0015	0.0005763	15	26028	rs539120350	0.0014	0.0014	0.0013	0.0015	0.0323	0.0013	0.0013	0.0307	0.0301	0.0020	0.0010	0	0.0323	0.0001	0.0009	0.0005	0.0015	0.0014	0.0016	0.0016	0.0015	0.0017	0.0237	0.0014	0.0014	0.0203	0.0190	0.0017	0	0.0006	0	0.0237	9.422e-05	0	0.0005	0.0009	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1261.39	33	chr7	128794376	.	GGAGGAA	G	1261.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.636;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.71;ReadPosRankSum=0.228;SOR=0.798	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1112	9	0	1	0
chr7	128842905	128842905	C	T	exonic	FLNC	.	nonsynonymous SNV	FLNC:NM_001127487:exon16:c.C2501T:p.T834M,FLNC:NM_001458:exon16:c.C2501T:p.T834M	Cardiomyopathy, familial hypertrophic;Cardiomyopathy, familial restrictive 5, Autosomal dominant;Myopathy, distal, 4, Autosomal dominant;Myopathy, myofibrillar, 5, Autosomal dominant	0	1496	24	2	0	28	0.00927152	.	.	YES	134529	Distal_myopathy_with_posterior_leg_and_anterior_hand_involvement|Myofibrillar_myopathy_5|Hypertrophic_cardiomyopathy_26|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Cardiomyopathy|not_specified|not_provided	MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,Orphanet:75249|MedGen:CN239310|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.447	.	0.0012	0.0239617	0.0090	0.0005	0.0012	0.0179	0	0.0012	0.0056	0.0498	0.0084281	1303	154602	rs75133741	0.0050	0.0050	0.0038	0.0063	0.0493	0.0049	0.0049	0.0480	0.0475	0.0005	0.0007	0	0.0189	3.757e-05	0.0016	0.0017	0.0062	0.0493	0.0034	0.0034	0.0022	0.0046	0.0561	0.0031	0.0030	0.0506	0.0485	0.0003	0	0.0015	0	0.0203	0	0	0.0015	0.0014	0.0561	0.135	0.27663	T	0.125	0.35455	T	0.249	0.34030	B	0.044	0.35687	B	0.000001	0.84330	D	0.053555	0.999646	0.48019	D	2.21	0.62235	M	-3.09	0.93170	D	-3.02	0.64593	D	0.438	0.49420	0.082	0.83849	D	0.493	0.80757	T	10	0.010443568	0.00232	T	.	.	.	0.447	0.74866	.	.	0.474368926326	0.47065	0.3821749051926247	0.38132	0.432603500595	0.43432	0.613334536552	0.54787	T	0.745869	0.92998	D	-0.265909	0.12217	T	-0.11823	0.61948	T	0.0407364212241147	0.03823	T	0.918008	0.70480	D	0.08972675	0.20975	0.12818894	0.30844	0.09558347	0.22497	0.13841659	0.33057	-3.932	0.22783	T	0.2128994219855428	0.28577	0.065	0.02609	B	.;.	.;.	3.668437	0.52151	23.2	0.99082601232310663	0.52002	0.90739	0.52170	D	AEFDBHCI	0.358683	0.44928	N	0.130846518323266	0.47906	3.009856	0.276113382339496	0.54148	3.580719	0.999999999999857	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.691665	0.62940	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.671000	0.46507	5.995000	0.52393	0.599000	0.40250	0.982000	0.35529	1.000000	0.68203	0.464000	0.28207	0.0:1.0:0.0:0.0	19.847	0.96710	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.034091	0.05	2361.43	34	chr7	128842905	.	C	T	2361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=543;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-1.267;SOR=0.64	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr7	128885215	128885215	G	T	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon27:c.C2922A:p.D974E	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs894137518	2.074e-05	1.984e-05	1.693e-05	2.465e-05	0.0002	1.455e-05	1.258e-05	1.335e-05	1.14e-05	0	0	0	0	0	0.0002	2.039e-05	0.0001	0	2.627e-05	2.627e-05	5.137e-05	0	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	.	.	.	0.618	0.07493	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	0.06737855	0.09379	T	.	.	.	.	.	.	.	0.198526703765	0.19489	0.5698100833882959	0.56909	.	.	0.279413074255	0.07411	T	0.020302	0.16009	T	-0.0459065	0.45065	T	-0.288232	0.45955	T	.	.	.	0.671533	0.28847	T	0.03053909	0.02734	0.09825641	0.23419	0.03053909	0.02733	0.09825641	0.23418	-6.838	0.52841	T	.	.	0.151	0.39647	B	.;.;.	.;.;.	1.747788	0.22237	15.54	0.74890959930677725	0.10866	0.14296	0.18328	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999649350872502	0.41316	0.067872	0.01466	2	0.116231	0.03378	0	0.099915	0.03048	0	0.079188	0.02158	0	0.0572876	0.13648	5.06	-0.774	0.10437	0.281000	0.18568	1.163000	0.24567	0.665000	0.62972	0.337000	0.25649	0.994000	0.32194	0.354000	0.25750	0.223:0.164:0.2786:0.3344	0.374	0.00358	554	0.71839	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1437.43	40	chr7	128885215	.	G	T	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.4;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.815;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1285	9	0	1	0
chr7	128891726	128891726	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon17:c.C1715T:p.A572V,KCP:NM_199349:exon17:c.C1715T:p.A572V	.	394	1112	15	1	0	17	0.0075859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0113818	0.0044	0	0	0	0	0.0005	0	0.0764	0.0010996	170	154602	rs372463038	0.0023	0.0022	0.0014	0.0031	0.0399	0.0022	0.0022	0.0386	0.0381	0.0004	0.0006	0.0004	5.856e-05	4.599e-05	0.0006	0.0002	0.0032	0.0399	0.0014	0.0015	0.0007	0.0022	0.0386	0.0013	0.0012	0.0341	0.0323	0.0003	0	0.0003	0.0009	0.0004	9.418e-05	0	0.0002	0	0.0386	.	.	.	0.96	0.02548	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0020279884	0.00029	T	.	.	.	.	.	.	.	0.188950314367	0.18478	0.07746613131127543	0.07682	.	.	0.386530011892	0.23179	T	0.001831	0.13584	T	-0.412221	0.01921	T	-0.330595	0.41403	T	.	.	.	0.609039	0.26417	T	0.028721679	0.02252	0.12166932	0.29356	0.028721679	0.02252	0.12166932	0.29355	-5.772	0.44330	T	.	.	0.110	0.21277	B	.;.;.	.;.;.	1.089865	0.14734	11.28	0.85936422183728112	0.16207	0.03648	0.08900	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.990920462793359	0.32314	0.206829	0.04106	0	0.096583	0.02683	0	0.209056	0.04548	0	0.109499	0.03221	0	0.0549606	0.12632	4.96	1.09	0.19517	0.538000	0.22869	4.418000	0.43305	-0.712000	0.03928	0.001000	0.13787	1.000000	0.68203	0.318000	0.24924	0.4436:0.0:0.5564:0.0	7.155	0.24808	545	0.72614	VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005636	0.005208	0.000000	0.000000	0.000000	0.016667	0.008475	0.021429	0.05	979.43	40	chr7	128891726	.	G	A	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.449;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.116;SOR=0.635	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr7	128893261	128893261	G	A	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon13:c.C1244T:p.A415V,KCP:NM_199349:exon13:c.C1244T:p.A415V	.	425	1077	19	1	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157748	0.0218	0.0005	0.0101	0.0017	0	0.0011	0.0213	0.0503	0.0035834	554	154602	rs199677638	0.0040	0.0039	0.0027	0.0053	0.0518	0.0039	0.0039	0.0505	0.0500	0.0003	0.0008	0	0.0001	2.036e-05	0.0018	0.0011	0.0046	0.0518	0.0023	0.0023	0.0016	0.0031	0.0509	0.0021	0.0020	0.0456	0.0436	0.0003	0	0.0016	0	0	0	0	0.0010	0.0014	0.0509	.	.	.	0.329	0.18789	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.09349	.	.	.	.	.	.	.	0.0024197698	0.00036	T	.	.	.	.	.	.	.	.	.	0.10850653874881283	0.10779	.	.	0.308590769768	0.11694	T	0.002273	0.04800	T	-0.423063	0.01636	T	-0.343233	0.39978	T	.	.	.	0.548745	0.20183	T	0.027362043	0.01916	0.1073498	0.25841	0.027362043	0.01916	0.1073498	0.25841	-6.026	0.46497	T	.	.	0.086	0.11366	B	.;.;.	.;.;.	0.432349	0.08027	4.746	0.58662788602678073	0.06044	0.05280	0.11122	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999970831139	0.74766	0.158359	0.03455	1	0.096583	0.02683	0	0.175771	0.04330	1	0.058706	0.01089	0	0.106538	0.23126	4.21	-2.36	0.06282	-0.314000	0.08132	-0.235000	0.10642	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1189:0.2438:0.4254:0.2118	2.219	0.03725	542	0.72843	VWFC domain|VWFC domain;VWFC domain|VWFC domain;VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.003597	0.000000	0.000000	0.004132	0.035211	0.05	1353.43	38	chr7	128893261	.	G	A	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.773;DP=424;ExcessHet=0;FS=5.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-2.158;SOR=0.329	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1129	9	0	1	0
chr7	128893821	128893821	A	G	exonic	KCP	.	nonsynonymous SNV	KCP:NM_001366122:exon11:c.T1084C:p.C362R,KCP:NM_199349:exon11:c.T1084C:p.C362R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0012	0	0	0	0	0	0	0.0026	0.0001552	24	154602	rs550360955	0.0002	0.0002	9.734e-05	0.0002	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	2.798e-05	0	0	9.268e-07	0.0002	0.0027	5.252e-05	5.249e-05	5.139e-05	5.37e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	.	.	.	0.056	0.62352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.832	0.87699	.	.	.	.	.	.	.	0.114982516	0.21650	T	.	.	.	.	.	.	.	0.279776271856	0.27574	0.999049867477204	0.99903	.	.	0.72010654211	0.70062	T	0.355717	0.73312	T	0.256295	0.79186	D	0.589826	0.96880	D	.	.	.	0.871513	0.57764	D	0.7744496	0.82315	0.8030727	0.88463	0.7744496	0.82317	0.8030727	0.88464	-13.983	0.93001	D	.	.	0.805	0.80271	P	.;.;.	.;.;.	4.991111	0.82740	27.9	0.89607793413949033	0.18944	0.89438	0.49903	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999925632719	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.099915	0.03048	0	0.058706	0.01089	0	0.760175	0.45091	3.95	3.95	0.44952	3.772000	0.55034	10.373000	0.83308	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	1.0:0.0:0.0:0.0	11.389	0.49043	537	0.73184	VWFC domain|VWFC domain|VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain|VWFC domain|VWFC domain;VWFC domain|VWFC domain|VWFC domain|VWFC domain|VWFC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	489.43	34	chr7	128893821	.	A	G	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.899;DP=362;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.136;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	9	0	1	0
chr7	129203570	129203570	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon2:c.G518A:p.R173H	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	426	1077	19	0	0	19	0.00874367	.	.	.	139006	not_provided|not_specified|SMO-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0483655428705	0.0005	0.00139776	0.0015	0.0001	0.0013	0	0.0003	0.0012	0.0046	0.0046	0.0010543	163	154602	rs147491841	0.0007	0.0007	0.0006	0.0009	0.0193	0.0007	0.0007	0.0164	0.0153	0.0001	0.0006	0.0007	0	2.361e-05	0.0193	0.0004	0.0010	0.0039	0.0006	0.0006	0.0005	0.0007	0.0062	0.0005	0.0005	0.0045	0.0039	9.624e-05	0	0.0006	0.0006	0	0	0.0136	0.0007	0	0.0062	0.553	0.06523	T	0.876	0.03259	T	0.0	0.02946	B	0.0	0.01387	B	0.002615	0.36243	N	0.358120	0.735721	0.29785	N	1.21	0.30464	L	-1.05	0.76690	T	0.04	0.06488	N	0.185	0.20129	-0.8656	0.50856	T	0.229	0.59447	T	10	0.0075823963	0.00172	T	0.048366	0.63340	D	0.118	0.32913	.	.	0.619681665072	0.61659	0.3171564670168714	0.31628	0.759997885566	0.64206	0.246255680919	0.03384	T	0.341735	0.71060	T	-0.46842	0.00870	T	-0.44591	0.28148	T	0.0141043006165336	0.00275	T	0.660634	0.26999	T	0.03716102	0.04710	0.032285657	0.01940	0.03716102	0.04710	0.032285657	0.01940	-3.78	0.20506	T	.	.	0.077	0.06295	B	.	.	1.837664	0.23349	15.98	0.62175619397798654	0.06895	0.08963	0.14810	N	AEFDBI	0.087613	0.17765	N	-0.60068809230682	0.18924	0.9864085	-0.416373114472013	0.24516	1.342945	0.851073603676254	0.25046	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.5	3.19	0.35720	1.199000	0.31842	1.801000	0.28882	-0.116000	0.14526	0.467000	0.26699	1.000000	0.68203	0.973000	0.55318	0.7508:0.0:0.2492:0.0	7.147	0.24764	714	0.56256	Frizzled domain|Frizzled domain|Frizzled domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016211	0.000000	0.009511	0.041176	0.000000	0.017241	0.012346	0.026718	0.05	1013.43	35	chr7	129203570	.	G	A	1013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.05;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=0.813;SOR=0.639	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1340	9	0	1	0
chr7	130310785	130310785	A	G	splicing	CPA4	NM_001163446:exon8:c.695-2A>G;NM_016352:exon9:c.794-2A>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407449	0.90339	D	0.347496	0.90218	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.618177	0.92583	32	0.99523437982700713	0.69407	0.99735	0.99069	D	AEFBI	.	.	.	1.14026924594135	0.98814	19.47492	0.98875741231052	0.98398	18.16935	0.999999884051802	0.74766	0.074636	0.01641	0	0.060609	0.00678	0	0.063197	0.01477	0	0.101684	0.03063	0	0.972872	0.75260	6.07	6.07	0.98675	8.709000	0.91087	11.155000	0.87468	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.378000	0.26290	1.0:0.0:0.0:0.0	15.81	0.78327	611	0.66908	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	385.43	34	chr7	130310785	.	A	G	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.212;DP=349;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.057;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1178	9	0	1	0
chr7	130733583	130733583	G	T	exonic	KLF14	.	nonsynonymous SNV	KLF14:NM_138693:exon1:c.C451A:p.P151T	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	0.00219649	0.0009	0	0	0.0239	0	0.0007	0	0	0.0003493	54	154602	rs201580039	0.0002	0.0003	0.0002	0.0003	0.0076	0.0002	0.0002	0.0068	0.0066	3.155e-05	0	3.997e-05	0.0076	4.321e-05	0.0004	3.795e-05	0.0003	0.0002	0.0003	0.0003	0.0003	0.0003	0.0076	0.0002	0.0002	0.0057	0.0051	0	0	0	0	0.0076	0	0	4.413e-05	0	0.0008	.	.	.	0.19	0.28482	T	0.164	0.28467	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.48	0.14657	T	.	.	.	0.029	0.00666	-0.9301	0.44124	T	0.010	0.03492	T	9	0.0036435425	0.00067	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.24078255776198437	0.23992	.	.	0.749298751354	0.74343	T	0.004209	0.03621	T	-0.646098	0.00076	T	-0.697266	0.05977	T	0.013801376719256	0.00261	T	0.331367	0.06940	T	0.031326506	0.02953	0.06526426	0.13202	0.031326506	0.02953	0.06526426	0.13201	-6.044	0.46646	T	.	.	0.131	0.28174	B	.	.	1.079724	0.14625	11.19	0.8143304666263359	0.13683	0.17903	0.20036	N	AEFDBCI	0.067558	0.13287	N	-1.06606642180888	0.07276	0.3375101	-1.10340471907682	0.07635	0.3721542	0.999986968030777	0.51787	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.94	1.94	0.25058	1.131000	0.31019	2.230000	0.31524	0.560000	0.28382	0.034000	0.20669	0.070000	0.22201	0.004000	0.06068	0.1797:0.0:0.8203:0.0	6.022	0.18859	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004658	0.005495	0.002770	0.002976	0.000000	0.008772	0.006329	0.007692	0.05	428.43	31	chr7	130733583	.	G	T	428.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.881;DP=296;ExcessHet=0;FS=2.991;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.02;SOR=1.048	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,619	9	0	1	0
chr7	130733852	130733852	G	A	exonic	KLF14	.	nonsynonymous SNV	KLF14:NM_138693:exon1:c.C182T:p.A61V	.	455	1066	1	0	0	1	0.000468823	.	.	.	2253304	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.0406182100139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.351e-07	7.53e-06	0	1.716e-06	1.007e-06	0	0	.	.	0	0	0	0	0	0	1.007e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.27767	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.64	0.12780	T	.	.	.	0.056	0.02759	-0.9211	0.45403	T	0.009	0.03183	T	9	0.053214878	0.05477	T	0.040618	0.59475	D	.	.	0.115	0.02372	0.0138822411134	0.00435	0.18292041666853723	0.18211	.	.	0.882520258427	0.94297	D	0.004166	0.03571	T	-0.392775	0.02581	T	-0.801971	0.01853	T	0.0833732471156965	0.10413	T	0.433957	0.11861	T	0.01727105	0.00259	0.04104004	0.04573	0.01727105	0.00259	0.04104004	0.04573	-4.503	0.30928	T	.	.	0.182	0.39545	B	.	.	2.042610	0.25964	16.95	0.99602663922479884	0.74278	0.02846	0.07600	N	AEFDBHCIJ	0.029561	0.02814	N	-1.4166812089282	0.02492	0.1101173	-1.44047492435933	0.02857	0.1322277	0.999999215297659	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.25	0.307	0.15057	0.268000	0.18336	1.951000	0.29885	-0.421000	0.05231	0.099000	0.22773	0.873000	0.27615	0.039000	0.14166	0.3951:0.0:0.6049:0.0	4.171	0.09792	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	294.45	15	chr7	130733852	.	G	A	294.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.378;DP=129;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-1.288;SOR=0.273	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,205	9	0	1	0
chr7	131445777	131445777	A	G	exonic	MKLN1	.	nonsynonymous SNV	MKLN1:NM_001321316:exon12:c.A778G:p.N260D,MKLN1:NM_013255:exon12:c.A1399G:p.N467D,MKLN1:NM_001145354:exon13:c.A1330G:p.N444D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0158621107532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466724898	6.271e-06	7.525e-06	6.927e-06	5.606e-06	0.0004	2.95e-06	2.14e-06	6.268e-05	2.586e-05	0	0	0	0	0	0.0004	6.353e-06	0	0	1.976e-05	1.971e-05	0	4.048e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.511	0.08839	T	0.608	0.07741	T	0.514	0.37393	P	0.216	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.15	0.29295	L	0.09	0.61443	T	-1.46	0.35792	N	0.63	0.66959	-0.9719	0.36798	T	0.137	0.45394	T	10	0.36690748	0.53173	T	0.015862	0.36823	T	0.188	0.46444	0.45	0.51121	0.44851236055	0.44475	0.6535716706465415	0.65293	1.73630748658	0.90807	0.895734012127	0.95953	D	0.021416	0.53182	T	-0.0580923	0.43205	T	-0.321222	0.42441	T	0.934405863285065	0.60186	D	0.945205	0.79148	D	0.27105653	0.50176	0.17111407	0.39269	0.27105653	0.50176	0.17111407	0.39269	-3.649	0.18568	T	.	.	0.307	0.58428	B	.;.	.;.	4.839176	0.78995	27.0	0.99605865065845822	0.74516	0.98789	0.86875	D	AEFGBI	0.893179	0.83086	D	0.0906039314389284	0.46025	2.849387	0.249661564367499	0.52631	3.436599	0.99999999996735	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.14	5.14	0.70008	9.239000	0.94505	11.134000	0.86880	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.133	0.64798	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1435.43	42	chr7	131445777	.	A	G	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.016;DP=437;ExcessHet=0;FS=4.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-0.768;SOR=0.381	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	9	0	1	0
chr7	131506642	131506642	C	T	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon5:c.G1090A:p.G364S,PODXL:NM_001018111:exon6:c.G1186A:p.G396S	.	418	1103	1	0	0	1	0.000453104	.	.	YES	2096622	PODXL-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00401752500499	0.0018	0.00139776	0.0003	0.0035	0	0.0001	0	5.994e-05	0	0	0.0003428	53	154602	rs140483735	0.0001	0.0001	0.0002	0.0001	0.0050	0.0001	0.0001	0.0043	0.0041	0.0050	0.0002	0	2.519e-05	0	0.0002	1.169e-05	0.0003	4.637e-05	0.0010	0.0010	0.0011	0.0009	0.0036	0.0009	0.0008	0.0031	0.0030	0.0036	0	0.0001	0	0.0002	0	0	2.94e-05	0.0009	0	0.794	0.03167	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.014651	0.01396	N	2.909340	1	0.08975	N	0	0.06538	N	2.15	0.19311	T	1.52	0.00719	N	0.051	0.02861	-1.0013	0.29545	T	0.017	0.06998	T	10	0.005776733	0.00129	T	0.004018	0.09556	T	0.007	0.00512	.	.	0.104622674875	0.10061	0.2745465590825715	0.27367	0.233320805752	0.25866	0.301492869854	0.10624	T	0.05971	0.31189	T	-0.710179	0.00032	T	-0.794689	0.02038	T	0.00356132255825551	0.00038	T	0.160884	0.01642	T	0.032901414	0.03403	0.038751148	0.03814	0.026347792	0.01680	0.033348482	0.02216	-1.512	0.01789	T	.	.	0.070	0.03625	B	.;.	.;.	-0.485016	0.01916	0.160	0.77325580157171248	0.11829	0.01104	0.04047	N	AEFDBHCI	0.030737	0.03152	N	-1.83895917030304	0.00457	0.01964655	-1.816267736849	0.00709	0.03155721	0.999986654255946	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.51	-1.38	0.08554	-1.115000	0.03401	-0.425000	0.09259	-1.808000	0.00615	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2219:0.4982:0.28	7.600	0.27240	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.008152	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1395.43	44	chr7	131506642	.	C	T	1395.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.463;DP=472;ExcessHet=0;FS=3.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.989;SOR=0.725	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr7	132130556	132130556	G	A	exonic	PLXNA4	.	nonsynonymous SNV	PLXNA4:NM_020911:exon32:c.C5608T:p.H1870Y	.	419	1071	30	2	0	34	0.015625	.	.	.	3192562	PLXNA4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.179	0.0145389197481	0.0037	0.00239617	0.0034	0.0007	0.0032	0	0.0014	0.0038	0.0044	0.0061	0.0032406	501	154602	rs150228337	0.0034	0.0034	0.0033	0.0036	0.0168	0.0034	0.0033	0.0141	0.0131	0.0005	0.0034	0.0091	0	0.0012	0.0168	0.0032	0.0046	0.0072	0.0030	0.0030	0.0030	0.0031	0.0050	0.0028	0.0027	0.0041	0.0037	0.0009	0.0395	0.0050	0.0078	0	0.0014	0.0204	0.0034	0.0047	0.0048	0.015	0.52492	D	0.008	0.67890	D	0.158	0.28271	B	0.044	0.24394	B	0.000008	0.62929	D	0.112116	0.999998	0.58761	D	0.345	0.11182	N	5.56	0.00864	T	-1.9	0.44284	N	0.282	0.31925	-0.3632	0.73168	T	0.002	0.00707	T	10	0.0074129403	0.00169	T	0.014539	0.34724	T	0.179	0.44899	.	.	0.102598925029	0.09809	0.1172842649708978	0.11656	0.773028615112	0.64876	0.389258414507	0.23565	T	0.175158	0.52464	T	-0.457932	0.01013	T	-0.426279	0.30358	T	0.0214244670018664	0.00845	T	0.70513	0.31558	T	0.14211065	0.32717	0.211634	0.45600	0.14211065	0.32716	0.211634	0.45599	-6.958	0.53727	T	.	.	0.090	0.12465	B	.;.	.;.	3.855395	0.55878	23.7	0.98688942737168184	0.44723	0.99491	0.96677	D	AEFDGBIJ	0.930001	0.91663	D	0.0916011758752532	0.46070	2.853277	0.312116949463604	0.56251	3.788185	1.0	0.98316	0.706548	0.73137	0	0.59043	0.45803	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	8.088000	0.89344	8.627000	0.77836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.850000	0.40195	0.0:0.0:1.0:0.0	19.340	0.94324	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.012228	0.002924	0.000000	0.000000	0.018293	0.022727	0.05	1829.43	105	chr7	132130556	.	G	A	1829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.601;DP=1272;ExcessHet=0;FS=1.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-1.094;SOR=0.732	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	9	0	1	0
chr7	134163425	134163425	G	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon7:c.G824T:p.G275V,LRGUK:NM_001365701:exon7:c.G824T:p.G275V,LRGUK:NM_144648:exon7:c.G824T:p.G275V	.	431	1077	14	0	0	14	0.00645756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.0442243274613	0.0004	0.00119808	0.0011	0	0.0002	0	0	0.0004	0.0011	0.0065	0.000912	141	154602	rs151096154	0.0005	0.0005	0.0003	0.0007	0.0059	0.0005	0.0005	0.0055	0.0053	0	0.0002	0.0029	0	0	0.0026	6.746e-05	0.0006	0.0059	0.0003	0.0003	0.0003	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0003	0.0035	0.0002	0	0	0.0001	0.0005	0.0046	0.002	0.72154	D	0.007	0.69154	D	0.988	0.62325	D	0.954	0.69447	D	0.000220	0.47681	D	0.187222	0.999999	0.58761	D	2.75	0.80375	M	-0.21	0.66294	T	-6.23	0.90490	D	0.625	0.63968	0.022	0.82694	D	0.451	0.78497	T	10	0.013947934	0.00294	T	0.044224	0.61383	D	0.375	0.69358	.	.	0.759413666507	0.75722	0.5123889596735361	0.51160	0.341207361243	0.36058	0.423825770617	0.28363	T	0.060127	0.31303	T	-0.272933	0.11432	T	-0.162214	0.58151	T	0.130916499232425	0.15466	T	0.806819	0.45619	T	0.9443252	0.95688	0.8603727	0.92204	0.9443252	0.95688	0.8603727	0.92205	-12.855	0.88757	D	.	.	0.452	0.69411	A	.;.	.;.	4.620023	0.73354	26.0	0.9971063638030232	0.81283	0.95142	0.63592	D	AEFGBI	0.446843	0.50273	N	0.690605609038825	0.79018	6.989674	0.614683858076732	0.76004	6.412114	0.999732947377007	0.42341	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.94	5.94	0.96165	5.885000	0.69480	11.848000	0.97994	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.0:0.0:1.0:0.0	19.116	0.93327	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.007576	0.05	870.43	57	chr7	134163425	.	G	T	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.639;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.016;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	9	0	1	0
chr7	134210113	134210113	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G3253A:p.A1085T,LRGUK:NM_001365701:exon16:c.G3250A:p.A1084T	.	1210	310	1	1	0	3	0.00481541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.000718	111	154602	rs113987610	0.0054	0.0024	0.0054	0.0053	0.0057	0.0051	0.0050	0.0054	0.0053	0.0004	0.0036	0.0045	0	0.0130	0.0039	0.0057	0.0040	0	0.0042	0.0042	0.0041	0.0043	0.0056	0.0039	0.0038	0.0052	0.0050	0.0009	0.0121	0.0041	0.0066	0	0.0098	0.0034	0.0056	0.0090	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999987	0.18198	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051732957	0.00112	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227477	0.03026	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	0.406270	0.07776	4.460	0.69485390337206165	0.08987	0.10895	0.16267	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999992998058171	0.74766	0.078448	0.01964	0	0.059962	0.00310	0	0.083675	0.02720	0	0.058706	0.01089	0	0.138442	0.26567	5.42	1.35	0.21078	0.644000	0.24455	0.333000	0.17304	0.590000	0.31872	0.105000	0.22895	0.000000	0.08366	0.003000	0.05239	0.1951:0.3386:0.4663:0.0	4.853	0.12908	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	37.47	2	chr7	134210113	.	G	A	37.47	.	AC=2;AF=0.167;AN=12;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.74;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	5	1	0	4
chr7	134576422	134576422	A	G	exonic	AKR1B15	.	nonsynonymous SNV	AKR1B15:NM_001367820:exon8:c.A817G:p.T273A,AKR1B15:NM_001367821:exon8:c.A733G:p.T245A,AKR1B15:NM_001080538:exon9:c.A817G:p.T273A	.	434	1083	4	1	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00351951629914	0.0042	0.000998403	0.0035	0.0012	0.0034	0.0007	0.0005	0.0049	0.0022	0.0018	0.0033829	523	154602	rs2458502	0.0047	0.0047	0.0048	0.0046	0.0056	0.0046	0.0046	0.0055	0.0054	0.0007	0.0040	0.0001	0.0004	0.0006	0.0021	0.0056	0.0035	0.0018	0.0034	0.0034	0.0034	0.0034	0.0055	0.0032	0.0031	0.0051	0.0049	0.0008	0	0.0050	0.0009	0	0.0008	0.0034	0.0055	0.0061	0.0019	0.367	0.11659	T	0.2	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.63	0.02141	N	2.35	0.16217	T	-0.42	0.14193	N	0.196	0.21580	-0.9850	0.33832	T	0.009	0.03359	T	9	0.017938107	0.00386	T	0.00352	0.08000	T	0.012	0.01476	.	.	0.0401082797425	0.02173	0.2964700184060892	0.29560	0.0411031891715	0.04411	0.271098166704	0.06284	T	.	.	.	-0.747944	0.00018	T	-0.84342	0.01048	T	0.00570585781265705	0.00062	T	0.431557	0.11736	T	.	.	.	.	.	.	.	.	-4.391	0.29435	T	.	.	0.059	0.00861	B	.;.	.;.	-1.991821	0.00103	0.002	0.2796300991337714	0.01413	0.00840	0.03368	N	AEFBI	0.031874	0.03493	N	-1.97895522058099	0.00235	0.01006105	-2.05578042454384	0.00232	0.01024356	0.999835651868481	0.43792	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.46	-6.91	0.01490	-6.766000	0.00067	-7.385000	0.01168	-2.373000	0.00302	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2716:0.2406:0.3777:0.1102	2.407	0.04145	754	0.51307	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1301.43	45	chr7	134576422	.	A	G	1301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.657;DP=490;ExcessHet=0;FS=1.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.481;SOR=0.606	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr7	135617231	135617231	C	T	exonic	NUP205	.	nonsynonymous SNV	NUP205:NM_001329434:exon26:c.C2600T:p.T867I,NUP205:NM_015135:exon26:c.C3674T:p.T1225I	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00585280614891	7.7e-05	0.000399361	0.0004	0	8.649e-05	0	0	0.0002	0	0.0017	0.0002975	46	154602	rs151283740	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	4.478e-05	0.0011	0	0	0.0019	6.566e-05	0.0003	0.0024	0.0002	0.0002	6.425e-05	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.406e-05	0	0	0.0006	0	0	0.0034	0.0001	0.0005	0.0033	0.154	0.24277	T	0.058	0.46182	T	0.015	0.17086	B	0.035	0.22741	B	0.000000	0.84330	D	0.090581	0.999994	0.58761	D	1.39	0.34934	L	1.51	0.30937	T	-1.38	0.34198	N	0.507	0.53884	-1.0716	0.09065	T	0.041	0.17657	T	10	0.020202816	0.00462	T	0.005853	0.15221	T	0.086	0.25016	.	.	0.552920571966	0.54950	0.31477644667264676	0.31390	0.271769764214	0.29692	0.607507646084	0.53964	T	0.022777	0.17502	T	-0.3361	0.05662	T	-0.274575	0.47357	T	0.0195292823664273	0.00657	T	0.824018	0.48536	T	0.10651294	0.25186	0.14224301	0.33846	0.10651294	0.25186	0.14224301	0.33845	-3.682	0.19052	T	0.16994459818754665	0.21339	0.089	0.11941	B	.	.	2.820644	0.37159	20.4	0.99421419096816632	0.63790	0.94139	0.60230	D	AEFGBI	0.433161	0.49474	N	-0.081465596940068	0.38204	2.234127	0.164584360059121	0.47919	3.015102	0.999999039297117	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.890000	0.62869	1.807000	0.28930	0.599000	0.40250	1.000000	0.71638	0.933000	0.28592	0.997000	0.79791	0.0:0.8859:0.0:0.1141	10.832	0.45871	765	0.49814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	702.43	34	chr7	135617231	.	C	T	702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=367;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.646;SOR=0.965	GT:AD:DP:GQ:PL	0/1:28,30:58:99:714,0,589	9	0	1	0
chr7	138580592	138580592	C	G	exonic	TRIM24	.	nonsynonymous SNV	TRIM24:NM_003852:exon16:c.C2514G:p.D838E,TRIM24:NM_015905:exon16:c.C2616G:p.D872E	.	8	1511	3	0	0	3	0.000991736	.	.	.	699867	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.271	.	0.0087	0.00219649	0.0083	0.0012	0.0066	0	0.0086	0.0124	0.0066	0.0015	0.0078071	1207	154602	rs61751967	0.0091	0.0091	0.0093	0.0089	0.0104	0.0089	0.0089	0.0103	0.0102	0.0013	0.0051	0.0079	0	0.0095	0.0010	0.0104	0.0090	0.0013	0.0063	0.0063	0.0066	0.0061	0.0101	0.0060	0.0059	0.0095	0.0092	0.0015	0	0.0043	0.0078	0.0002	0.0104	0	0.0101	0.0014	0.0017	0.004	0.65419	D	0.11	0.38305	T	0.581	0.43037	P	0.357	0.44625	B	0.000017	0.62929	D	0.183018	0.996631	0.81001	D	1.05	0.26816	L	-2.19	0.86815	D	-2.35	0.51968	N	0.429	0.58202	-0.3057	0.74826	T	0.362	0.72354	T	10	0.010393947	0.00232	T	.	.	.	0.271	0.58633	0.297	0.26202	0.803324511935	0.80148	0.7293627759519069	0.72881	0.857420482811	0.68807	0.6535602808	0.60491	T	0.185037	0.53788	T	-0.347952	0.04857	T	-0.262198	0.48605	T	0.0198910645082472	0.00690	T	0.90031	0.65351	D	0.54679	0.69777	0.36327064	0.61716	0.54679	0.69778	0.36327064	0.61716	-9.684	0.71998	D	.	.	0.761	0.76059	P	.;.	.;.	2.823716	0.37210	20.4	0.99685230606863384	0.79507	0.96202	0.68004	D	AEFDBI	0.370024	0.45654	N	0.0642753810333064	0.44800	2.74765	0.1705249509527	0.48239	3.042602	0.954257683427303	0.28121	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.78	0.60666	0.840000	0.27253	0.233000	0.16214	0.599000	0.40250	1.000000	0.71638	0.979000	0.30280	1.000000	0.97212	0.0:0.7972:0.0:0.2028	9.501	0.38185	900	0.24599	Zinc finger, PHD-finger;Zinc finger, PHD-finger	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1141.43	109	chr7	138580592	.	C	G	1141.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.518;DP=421;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.266;SOR=0.845	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr7	138659924	138659924	T	C	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_001331192:exon3:c.A137G:p.Y46C,SVOPL:NM_001139456:exon6:c.A410G:p.Y137C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.664	0.123583705591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.146e-07	6.84e-07	0	1.449e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.999981	0.81001	D	3.75	0.95014	H	0.13	0.60973	T	-6.62	0.92128	D	0.983	0.99260	-0.0264	0.81707	T	0.429	0.77120	T	9	0.9077872	0.90143	D	0.123584	0.80478	D	0.664	0.87479	0.618	0.75232	0.844916820699	0.84343	0.9173685877691236	0.91711	0.262336419958	0.28795	0.796622633934	0.81449	T	0.64702	0.89243	D	0.352294	0.86657	D	0.26827	0.86482	D	0.989731132984161	0.79956	D	0.948805	0.80311	D	0.64127547	0.74899	0.56262267	0.74690	0.64127547	0.74901	0.56262267	0.74691	-12.23	0.85953	D	.	.	0.708	0.73280	P	.	.	5.156418	0.86381	28.9	0.99816656108828838	0.89973	0.94056	0.59980	D	AEFBI	0.846099	0.76299	D	0.699516406787461	0.79599	7.112139	0.604506676177801	0.75265	6.280368	0.999998691577528	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.18	5.18	0.71140	7.037000	0.76256	7.618000	0.62188	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.435000	0.27561	0.0:0.0:0.0:1.0	14.022	0.64081	916	0.20744	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1330.43	34	chr7	138659924	.	T	C	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.99;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.612;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	9	0	1	0
chr7	138678510	138678510	G	T	exonic	SVOPL	.	nonsynonymous SNV	SVOPL:NM_001139456:exon3:c.C98A:p.T33N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0811187348971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.429e-06	1.368e-06	1.41e-06	1.448e-06	9.267e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.267e-07	1.72e-05	0	6.57e-06	6.566e-06	1.284e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.123	0.59928	T	0.037	0.72224	D	0.996	0.68779	D	0.905	0.64260	P	.	.	.	.	0.999888	0.50402	D	2.42	0.70002	M	-0.19	0.74159	T	-2.3	0.75695	N	0.589	0.66187	-0.0699	0.80783	T	0.499	0.81052	T	9	0.63680655	0.68829	D	0.081119	0.73612	D	0.301	0.62179	0.277	0.23004	0.835722407845	0.83415	0.49957224412750073	0.49878	0.246384099497	0.27178	0.662533760071	0.61772	T	0.175039	0.52448	T	0.0427647	0.57406	T	-0.176348	0.56860	T	0.866349949766715	0.51641	D	0.872913	0.64163	D	0.3917297	0.60155	0.3446965	0.60163	0.3917297	0.60155	0.3446965	0.60162	-8.746	0.66047	D	.	.	0.454	0.62406	A	.;.	.;.	4.069653	0.60461	24.2	0.97681297143157064	0.35317	0.95475	0.64868	D	AEFDBI	0.676229	0.64134	D	0.525993355882043	0.68632	5.243959	0.487930030141485	0.67191	5.050835	0.99999641308566	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	6.656000	0.74245	11.492000	0.92931	0.649000	0.52879	1.000000	0.71638	1.000000	0.68203	0.079000	0.17189	0.0:0.0:1.0:0.0	15.908	0.79230	917	0.20147	Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	585.43	36	chr7	138678510	.	G	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.652;SOR=0.629	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1089	9	0	1	0
chr7	138861146	138861146	G	C	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon16:c.C5240G:p.P1747R,KIAA1549:NM_020910:exon16:c.C5240G:p.P1747R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0443187996043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.003	0.76473	D	0.993	0.65571	D	0.878	0.62312	P	0.003601	0.34713	N	0.278041	0.999996	0.08975	N	2.67	0.78151	M	1.53	0.32482	T	-5.46	0.86914	D	0.196	0.29774	-1.0119	0.26322	T	0.134	0.44817	T	10	0.30684316	0.48191	T	0.044319	0.61427	D	0.165	0.42395	0.428	0.47515	0.184605227958	0.18053	0.47842585673667853	0.47762	0.431796011397	0.43370	0.468514353037	0.34475	T	0.070773	0.34043	T	-0.118947	0.33295	T	-0.408636	0.32382	T	0.925972402095795	0.58799	D	0.723828	0.33737	T	0.29367244	0.52332	0.28053713	0.54029	0.29367244	0.52332	0.28053713	0.54028	-4.064	0.26708	T	.	.	0.172	0.45086	B	.;.	.;.	3.636961	0.51552	23.1	0.99655705394868832	0.77568	0.94175	0.60340	D	AEFDBI	0.453037	0.50634	N	0.216427410681676	0.51996	3.376641	0.135514008877651	0.46379	2.884835	0.975563743399341	0.29645	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.6	4.6	0.56512	2.602000	0.45921	8.554000	0.77540	0.671000	0.69459	0.287000	0.25205	1.000000	0.68203	0.132000	0.19645	0.0:0.0:0.8447:0.1553	13.610	0.61543	723	0.55174	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	982.43	33	chr7	138861146	.	G	C	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.659;DP=439;ExcessHet=0;FS=1.524;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.62;ReadPosRankSum=-0.052;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1178	9	0	1	0
chr7	138916769	138916769	C	T	exonic	KIAA1549	.	nonsynonymous SNV	KIAA1549:NM_001164665:exon2:c.G2857A:p.D953N,KIAA1549:NM_020910:exon2:c.G2857A:p.D953N	.	.	.	.	.	.	.	.	.	.	.	1074463	KIAA1549-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.157	0.02283161034	0.0013	0.00219649	0.0005	0.0060	0.0002	0	0	7.562e-05	0.0011	0	0.0005045	78	154602	rs61734245	0.0002	0.0002	0.0002	0.0001	0.0050	0.0001	0.0001	0.0044	0.0042	0.0050	0.0003	0	0	0	0.0002	1.349e-05	0.0007	1.16e-05	0.0015	0.0015	0.0017	0.0014	0.0051	0.0014	0.0013	0.0045	0.0043	0.0051	0	0.0010	0	0	0	0	2.94e-05	0.0028	0	0.014	0.54683	D	0.008	0.67890	D	1.0	0.90584	D	0.993	0.81110	D	0.000002	0.62929	D	0.000000	0.999847	0.49770	D	1.87	0.49600	L	1.72	0.26588	T	-2.29	0.50992	N	0.28	0.31702	-1.0254	0.21952	T	0.111	0.39770	T	10	0.009317249	0.00210	T	0.022832	0.45752	T	0.157	0.40909	.	.	0.189391138174	0.18552	0.7885440582076289	0.78806	0.111335960107	0.12561	0.581606924534	0.50311	T	0.028687	0.20722	T	-0.49007	0.00649	T	-0.475223	0.24954	T	0.00933861579450192	0.00119	T	0.858514	0.54939	D	0.19987635	0.41942	0.15185587	0.35753	0.19987635	0.41942	0.15185587	0.35753	-8.075	0.61580	D	.	.	0.123	0.25850	B	.;.	.;.	4.257532	0.64674	24.7	0.99917011813487033	0.98449	0.94238	0.60535	D	AEFDBI	0.288912	0.40069	N	0.394256286408739	0.61112	4.307856	0.352055286920695	0.58631	4.034832	0.999999931942398	0.74766	0.736574	0.97449	0	0.573888	0.26702	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.37	4.37	0.51830	2.966000	0.48900	5.803000	0.49951	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.671000	0.33280	0.0:1.0:0.0:0.0	16.436	0.83717	562	0.71143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001011	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1693.43	37	chr7	138916769	.	C	T	1693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.19;DP=595;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.655;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1292	9	0	1	0
chr7	139053537	139053537	G	A	exonic	ZC3HAV1	.	nonsynonymous SNV	ZC3HAV1:NM_001363491:exon12:c.C2729T:p.A910V,ZC3HAV1:NM_020119:exon12:c.C2363T:p.A788V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.013672966665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215473102	4.135e-06	1.163e-05	4.114e-06	4.156e-06	0.0003	1.49e-06	9.8e-07	6.139e-05	2.539e-05	3.04e-05	0	0	0	1.883e-05	0.0003	0	1.67e-05	1.188e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.138	0.33780	T	1.0	0.90584	D	1.0	0.97372	D	0.000285	0.46274	D	0.000000	0.598194	0.30963	N	2.075	0.57047	M	2.57	0.13552	T	-2.58	0.55662	D	0.322	0.44857	-1.1750	0.00449	T	0.068	0.27947	T	10	0.8509321	0.84271	D	0.013673	0.33248	T	0.308	0.62947	0.804	0.92230	0.214338557667	0.21045	0.7352217176484592	0.73467	0.967919316052	0.73255	0.398050636053	0.24797	T	0.071182	0.35776	T	-0.0277957	0.47737	T	-0.277703	0.47039	T	0.938555061817169	0.60927	D	0.69823	0.30825	T	0.38187575	0.59452	0.27794588	0.53751	0.38187575	0.59452	0.27794588	0.53750	-4.803	0.34627	T	.	.	0.594	0.73696	P	.;.	.;.	4.231570	0.64084	24.7	0.99809455481132725	0.89353	0.87371	0.46890	D	AEFDBI	0.173893	0.30100	N	0.313927797062192	0.56863	3.851797	0.204164188004728	0.50079	3.203667	0.836359596499101	0.24786	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	4.11	0.47350	4.105000	0.57532	8.322000	0.76964	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.189:0.811:0.0	10.969	0.46644	443	0.79878	Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	33	chr7	139053537	.	G	A	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=1.77;SOR=0.757	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1288	9	0	1	0
chr7	139614492	139614492	G	A	exonic	HIPK2	.	nonsynonymous SNV	HIPK2:NM_022740:exon8:c.C1784T:p.A595V	.	.	.	.	.	.	.	.	0.4412	0.618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0474481057809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.328e-07	7.561e-06	0	1.712e-06	1.039e-06	0	0	.	.	0	0	0	0	0	0	1.039e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.489	0.15059	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.998956	0.81001	D	.	.	.	0.67	0.52187	T	-0.58	0.17417	N	0.529	0.61511	-1.0705	0.09304	T	0.093	0.35390	T	8	0.30987635	0.48470	T	0.047448	0.62924	D	0.062	0.17934	0.066	0.00312	0.553613530234	0.55019	0.32720391015854233	0.32633	0.44134038575	0.44124	0.517784118652	0.41314	T	0.161266	0.50545	T	-0.149983	0.28314	T	-0.453216	0.27341	T	0.583903759283412	0.35769	D	0.634537	0.27701	T	0.048329554	0.08406	0.09353187	0.22095	0.048329554	0.08406	0.09353187	0.22094	-1.692	0.02208	T	.	.	0.104	0.18705	B	.;.	.;.	3.923317	0.57294	23.8	0.99256542791234592	0.57055	0.93816	0.59273	D	AEFBCI	0.657221	0.62893	D	0.417016637654045	0.62357	4.450356	0.441178988619543	0.64151	4.663966	0.999999573393191	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.78367	0.99111	0	0.635551	0.53088	0	.	.	5.39	4.5	0.54382	5.853000	0.69232	8.686000	0.78060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0736:0.0:0.9264:0.0	13.876	0.63153	899	0.25060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	64.94	38	chr7	139614492	.	G	A	64.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.238;DP=655;ExcessHet=0.2348;FS=86.237;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.698;SOR=7.137	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	4	0	2	4
chr7	140017700	140017700	G	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1211A:p.R404Q,TBXAS1:NM_001061:exon12:c.G1394A:p.R465Q,TBXAS1:NM_001314028:exon12:c.G1337A:p.R446Q,TBXAS1:NM_001166253:exon13:c.G1532A:p.R511Q,TBXAS1:NM_001166254:exon14:c.G1193A:p.R398Q,TBXAS1:NM_001130966:exon16:c.G1394A:p.R465Q	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	.	587929	not_provided|not_specified|TBXAS1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00779722285529	0.0011	0.00139776	0.0020	0.0001	0.0020	0	0.0018	0.0025	0.0045	0.0021	0.001824	282	154602	rs41311778	0.0014	0.0014	0.0013	0.0014	0.0090	0.0013	0.0013	0.0070	0.0063	0.0002	0.0019	0.0050	7.558e-05	0.0021	0.0090	0.0012	0.0023	0.0019	0.0013	0.0014	0.0013	0.0014	0.0022	0.0012	0.0011	0.0016	0.0014	7.216e-05	0	0.0022	0.0061	0	0.0014	0.0102	0.0017	0.0024	0.0021	0.21	0.19639	T	0.637	0.07419	T	0.031	0.20130	B	0.015	0.17295	B	0.065881	0.21850	N	0.483473	1	0.08975	N	.	.	.	-0.24	0.66834	T	0.25	0.04456	N	0.128	0.17691	-0.9798	0.35048	T	0.077	0.30676	T	10	0.007707268	0.00175	T	0.007797	0.20694	T	0.040	0.10527	.	.	0.273503213844	0.26977	0.6146852025524998	0.61400	0.137519854837	0.15505	0.248660236597	0.03628	T	0.006446	0.05881	T	-0.467726	0.00878	T	-0.457862	0.26832	T	0.0109043994219762	0.00156	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	-4.345	0.28802	T	.	.	0.078	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.838685	0.12104	8.655	0.96610486747485569	0.30441	0.02841	0.07592	N	AEFDBCI	0.125115	0.24148	N	-1.4376983823085	0.02315	0.1020869	-1.48100394523166	0.02500	0.1150909	0.999999994997579	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	-5.64	0.02269	0.670000	0.24838	-0.528000	0.08651	-0.113000	0.14837	0.006000	0.17386	0.000000	0.08366	0.253000	0.23340	0.6056:0.1043:0.1751:0.115	4.773	0.12537	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.005051	0.002717	0.008772	0.050000	0.008621	0.003049	0.000000	0.15	3098.43	40	chr7	140017700	.	G	A	3098.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.04;DP=436;ExcessHet=0;FS=0.719;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=0.653;SOR=0.835	GT:AD:DP:GQ:PL	1/1:1,68:69:99:2011,197,0	8	1	1	0
chr7	141919142	141919142	G	A	exonic	OR9A4	.	nonsynonymous SNV	OR9A4:NM_001001656:exon2:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00203407746988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	8.961e-05	2.35e-06	1.7e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	0	0	8.993e-07	6.623e-05	0	6.568e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.412	0.10083	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.78	0.01655	N	4.1	0.02944	T	-0.9	0.24244	N	0.117	0.10626	-0.9236	0.45056	T	0.005	0.01542	T	9	0.070971936	0.10398	T	0.002034	0.03695	T	0.097	0.27909	0.467	0.53891	0.238705975628	0.23479	0.1708481357035193	0.17004	0.0387551026412	0.04121	0.264922529459	0.05491	T	0.008126	0.07480	T	-0.318491	0.07022	T	-0.695267	0.06088	T	0.043599376052664	0.04348	T	0.253275	0.03871	T	0.16262901	0.36352	0.22728762	0.47733	0.16262901	0.36352	0.22728762	0.47732	-2.179	0.03940	T	.	.	0.176	0.38534	B	.;.	.;.	0.554931	0.09233	6.017	0.64274537243952878	0.07448	0.03611	0.08844	N	AEFI	0.048183	0.08195	N	-0.862872257275722	0.11735	0.5679453	-0.803702914295113	0.14407	0.7525458	2.3110281731073E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.8	1.74	0.23636	-1.626000	0.02137	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2294:0.0:0.5661:0.2045	3.270	0.06473	876	0.30350	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2010.43	39	chr7	141919142	.	G	A	2010.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.644;DP=476;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.621;SOR=0.827	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1090	9	0	1	0
chr7	142063511	142063511	C	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon36:c.C4270A:p.P1424T,MGAM:NM_004668:exon36:c.C4270A:p.P1424T	.	424	1088	10	0	0	10	0.00457457	.	.	.	699890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.924	.	0.0066	0.00259585	0.0073	0.0011	0.0026	0	0.0198	0.0098	0.0084	0.0031	0.0068887	1065	154602	rs185053832	0.0097	0.0097	0.0099	0.0095	0.0108	0.0096	0.0095	0.0107	0.0106	0.0013	0.0031	0.0073	5.043e-05	0.0171	0.0024	0.0108	0.0093	0.0031	0.0075	0.0076	0.0076	0.0075	0.0112	0.0072	0.0070	0.0105	0.0102	0.0016	0.0121	0.0035	0.0092	0	0.0184	0	0.0112	0.0095	0.0021	0.002	0.72154	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999672	0.48205	D	4.15	0.97575	H	-3.13	0.92829	D	-7.47	0.94958	D	0.935	0.94904	0.932	0.96136	D	0.906	0.96892	D	9	0.041749626	0.02858	T	.	.	.	0.924	0.98117	.	.	0.968639366473	0.96829	0.7952344949650757	0.79476	0.314917620909	0.33772	0.616810083389	0.55278	T	0.826896	0.95826	D	0.0869764	0.62847	D	0.362547	0.90798	D	0.096197229198094	0.11933	T	0.934107	0.84340	D	0.86951214	0.88823	0.81677973	0.89333	0.86951214	0.88824	0.81677973	0.89333	-13.011	0.89410	D	.	.	0.951	0.87017	P	.;.;.	.;.;.	4.458664	0.69369	25.4	0.9966564841761234	0.78266	0.99259	0.93576	D	AEFBI	0.872503	0.79439	D	0.851508806426223	0.89192	9.87237	0.67211760356626	0.80267	7.261131	0.999993569595763	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	7.512000	0.80617	.	.	0.329000	0.19528	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:1.0:0.0:0.0	15.216	0.72960	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	4622.14	34	chr7	142063511	.	C	A	4622.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.042;DP=769;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.75;MQRankSum=0.204;QD=9.53;ReadPosRankSum=0.571;SOR=0.682	GT:AD:DP:GQ:PL	0/1:137,97:234:99:1965,0,3223	8	0	2	0
chr7	142080827	142080827	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon50:c.G5884A:p.V1962I	.	449	1053	20	0	0	20	0.00940734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0419329	0.0191	0.0086	0.0013	0.0637	0	0.0014	0.0127	0.0926	0.0165522	2559	154602	rs117482862	0.0082	0.0081	0.0059	0.0105	0.0851	0.0080	0.0080	0.0834	0.0827	0.0082	0.0012	0.0098	0.0623	1.941e-05	0.0069	0.0005	0.0119	0.0851	0.0087	0.0088	0.0072	0.0102	0.0981	0.0083	0.0081	0.0906	0.0877	0.0081	0	0.0031	0.0114	0.0677	0	0	0.0009	0.0050	0.0981	.	.	.	0.587	0.08302	T	.	.	.	.	.	.	.	.	.	.	0.994818	0.81001	P	.	.	.	.	.	.	.	.	.	0.065	0.03726	-0.9829	0.34328	T	0.021	0.08732	T	4	0.0026019514	0.00040	T	.	.	.	0.018	0.03083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.527307	0.00398	T	-0.483103	0.24118	T	0.0256323700263927	0.01357	T	0.853415	0.53896	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03231	B	.	.	1.588516	0.20318	14.69	0.66264928345314078	0.08008	0.91791	0.54270	D	AEFDGI	0.291667	0.40274	N	-0.116246398793108	0.36684	2.123831	-0.125400422807833	0.34370	1.976225	0.0231090643267659	0.13482	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.67	2.87	0.32523	2.151000	0.41888	.	.	0.672000	0.70159	0.996000	0.39380	0.049000	0.21787	0.512000	0.29290	0.1689:0.0:0.8311:0.0	9.987	0.41019	.	.	Galactose mutarotase, N-terminal barrel	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1886.43	34	chr7	142080827	.	G	A	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.383;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.796;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1311	9	0	1	0
chr7	142082570	142082570	G	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon52:c.G6267A:p.M2089I	.	449	1053	20	0	0	20	0.00940734	0.9497	0.81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	.	.	0.0421326	0.0339	0.0130	0.0035	0.1053	0	0.0028	0.0094	0.1007	0.0145147	2244	154602	rs149265215	0.0079	0.0080	0.0057	0.0102	0.0843	0.0078	0.0077	0.0827	0.0820	0.0080	0.0011	0.0099	0.0618	2.204e-05	0.0068	0.0005	0.0118	0.0843	0.0085	0.0088	0.0071	0.0099	0.0956	0.0081	0.0079	0.0882	0.0853	0.0079	0	0.0029	0.0114	0.0673	0	0	0.0009	0.0040	0.0956	.	.	.	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	0.00484165	0.81001	P	.	.	.	.	.	.	.	.	.	0.291	0.32921	-0.5734	0.65879	T	0.078	0.31224	T	4	0.0029990375	0.00049	T	.	.	.	0.308	0.62947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.253381	0.13687	T	-0.130485	0.60930	T	0.0204835161029945	0.00748	T	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.80734	P	.	.	4.631355	0.73641	26.0	0.99160228913287085	0.54071	0.98609	0.84658	D	AEFI	0.891207	0.82696	D	0.481528758558236	0.66012	4.895369	0.539012016460714	0.70635	5.534473	0.999999662943052	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.83	4.83	0.61880	7.842000	0.85116	.	.	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.053	0.86398	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4433.43	33	chr7	142082570	.	G	A	4433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.598;DP=912;ExcessHet=0;FS=4.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.898;SOR=1.018	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	9	0	1	0
chr7	142094407	142094407	C	T	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon61:c.C7216T:p.R2406C	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0835234683179	.	.	4.945e-05	0	0	0	0	9.903e-05	0	0	.	.	.	rs775218319	2.378e-05	2.641e-05	2.573e-05	2.18e-05	0.0004	1.696e-05	1.492e-05	6.709e-05	2.713e-05	0	9.768e-05	0	0	2.005e-05	0.0004	2.365e-05	1.734e-05	0	4.093e-05	4.704e-05	5.323e-05	2.8e-05	7.729e-05	1.769e-05	1.165e-05	2.957e-05	1.938e-05	0	0	6.853e-05	0	0	0	0	7.729e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.990365	0.81001	D	.	.	.	.	.	.	.	.	.	0.816	0.81162	-0.1326	0.79340	T	0.405	0.75508	T	5	0.7484448	0.75460	D	0.083523	0.74133	D	0.211	0.50185	.	.	0.487912462561	0.48422	.	.	.	.	.	.	.	.	.	.	0.159048	0.70112	D	-0.00931444	0.69729	D	0.54150664806366	0.34160	D	0.938606	0.76932	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.948	0.86648	P	.	.	4.827640	0.78691	26.9	0.99748860034282172	0.84077	0.90308	0.51381	D	AEFDBI	0.553919	0.56497	D	0.314410580054462	0.56888	3.854305	0.361328461033067	0.59192	4.095149	0.0120137416995839	0.12267	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.0	5.0	0.66209	2.914000	0.48495	.	.	0.596000	0.33519	0.991000	0.37257	1.000000	0.68203	0.325000	0.25087	0.0:1.0:0.0:0.0	17.427	0.87419	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4960.12	33	chr7	142094407	.	C	T	4960.12	.	AC=2;AF=0.1;AN=20;DP=459;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.63;SOR=0.955	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1286	9	1	0	0
chr7	142160207	142160207	G	A	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon21:c.G2294A:p.R765Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514	0.0722054183428	.	.	.	.	.	.	.	.	.	.	.	.	.	rs909961815	9.085e-06	7.952e-06	7.924e-06	1.007e-05	1.578e-05	2.66e-06	1.93e-06	5.62e-06	3.36e-06	0	0	0	0	0	0	1.578e-05	0	0	6.573e-06	6.568e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.01	0.56456	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.94	0.73378	D	0.808	0.80375	-0.1538	0.78822	T	0.399	0.75073	T	4	0.9428916	0.93614	D	0.072205	0.71470	D	0.514	0.79217	0.875	0.96581	0.184867976434	0.18130	0.9339809722311773	0.93377	.	.	.	.	.	0.786393	0.94408	D	0.40846	0.90397	D	0.374128	0.91222	D	0.964952170848846	0.67117	D	.	.	.	0.1319006	0.30729	0.22518742	0.47456	0.1319006	0.30729	0.22518742	0.47455	-10.601	0.77425	D	.	.	0.527	0.65793	A	.	.	5.848090	0.93807	33	0.99955301720204859	0.99969	0.98251	0.80941	D	AEFI	0.847342	0.76420	D	0.459849266071545	0.64763	4.738422	0.523276463463817	0.69559	5.377797	0.995219883497634	0.34009	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	4.86	0.62624	8.039000	0.89191	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	17.267	0.86975	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1020.43	36	chr7	142160207	.	G	A	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.92;DP=422;ExcessHet=0;FS=0.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.163;SOR=0.85	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	9	0	1	0
chr7	142752517	142752517	A	G	exonic	PRSS1	.	nonsynonymous SNV	PRSS1:NM_002769:exon4:c.A541G:p.S181G	Pancreatitis, hereditary, Autosomal dominant;Trypsinogen deficiency, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	561570	Hereditary_pancreatitis|not_specified	MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0753464973085	7.7e-05	.	7.413e-05	9.61e-05	0	0	0	2.997e-05	0	0.0004	5.82e-05	9	154602	rs376907511	4.104e-05	4.173e-05	2.995e-05	5.225e-05	0.0010	3.244e-05	2.919e-05	0.0005	0.0003	5.974e-05	4.472e-05	0	0	0	0.0010	1.709e-05	0.0001	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.064	0.45318	T	0.0	0.02946	B	0.002	0.06944	B	0.593804	0.05607	N	1.162530	1	0.08975	N	0.19	0.09125	N	-3.16	0.92996	D	-1.72	0.40850	N	0.232	0.26111	-0.4133	0.71605	T	0.589	0.85277	D	10	0.13569438	0.25820	T	0.075346	0.72265	D	0.206	0.49396	.	.	0.537635407634	0.53415	0.40445836689908227	0.40361	0.149514723267	0.16857	0.296687215567	0.09908	T	0.557898	0.85149	D	-0.0663308	0.41912	T	-0.333056	0.41127	T	0.108653396368027	0.13283	T	.	.	.	0.25545707	0.48579	0.27954334	0.53924	0.24048628	0.46952	0.1967778	0.43424	-6.089	0.47018	T	.	.	0.099	0.19760	B	.;.;.;.	.;.;.;.	0.651145	0.10196	6.936	0.8314732317320358	0.14567	0.02029	0.06086	N	AEFDBI	0.235813	0.35836	N	-1.48821086810172	0.01932	0.08483167	-1.59493380612052	0.01686	0.07657855	0.0125586916854028	0.12343	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	3.32	-5.04	0.02742	-0.953000	0.03987	.	.	-0.270000	0.06752	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.8109:0.0:0.1891:0.0	10.499	0.43983	776	0.48302	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	5916.12	33	chr7	142752517	.	A	G	5916.12	.	AC=2;AF=0.1;AN=20;DP=1961;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.88;QD=29.58;SOR=1.033	GT:AD:DP:GQ:PL	0/0:243,0:243:99:0,120,1800	9	1	0	0
chr7	142885528	142885528	C	G	exonic	TRPV6	.	nonsynonymous SNV	TRPV6:NM_018646:exon1:c.G109C:p.A37P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.970444	0.25704	N	.	.	.	.	.	.	.	.	.	0.245	0.27673	.	.	.	.	.	.	.	0.21321404	0.37806	T	.	.	.	.	.	.	.	.	.	0.2620386865264447	0.26116	.	.	.	.	.	0.201496	0.55939	T	.	.	.	.	.	.	.	.	.	0.442956	0.12306	T	0.13981682	0.32284	0.27428186	0.53355	0.13981682	0.32283	0.27428186	0.53354	-3.069	0.10943	T	.	.	0.069	0.03060	B	.;.	.;.	3.311986	0.45517	22.1	0.88340736356804628	0.17900	0.17499	0.19863	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999816819840317	0.43459	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.062806	0.01542	0	0.319068	0.35395	3.42	1.49	0.21966	1.104000	0.30687	.	.	0.570000	0.28895	0.719000	0.28811	0.000000	0.08366	0.998000	0.85391	0.2336:0.6361:0.0:0.1303	3.962	0.08911	705	0.57330	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.43	35	chr7	142885528	.	C	G	52.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.054;DP=502;ExcessHet=0;FS=69.43;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=2.57;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,932:.	9	0	1	0
chr7	143286202	143286202	G	A	exonic	TMEM139	.	nonsynonymous SNV	TMEM139:NM_001282876:exon2:c.G245A:p.R82Q,TMEM139:NM_153345:exon2:c.G245A:p.R82Q,TMEM139:NM_001242773:exon3:c.G245A:p.R82Q,TMEM139:NM_001242775:exon3:c.G245A:p.R82Q,TMEM139:NM_001282877:exon3:c.G245A:p.R82Q,TMEM139:NM_001242774:exon4:c.G245A:p.R82Q	.	425	1082	15	0	0	15	0.00688389	0.9988	0.954	.	2823279	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	.	0.0019	0.00159744	0.0024	0.0008	0.0029	0	0.0002	0.0032	0.0099	0.0015	0.0023932	370	154602	rs146790657	0.0025	0.0025	0.0025	0.0026	0.0096	0.0025	0.0024	0.0075	0.0068	0.0005	0.0029	0.0052	2.519e-05	0.0002	0.0096	0.0027	0.0030	0.0019	0.0023	0.0023	0.0026	0.0021	0.0046	0.0021	0.0021	0.0038	0.0035	0.0007	0.0011	0.0046	0.0058	0	0.0002	0.0068	0.0032	0.0028	0.0017	0.15	0.24661	T	0.746	0.04877	T	0.95	0.53885	P	0.211	0.37346	B	0.009681	0.30255	N	0.225311	0.743693	0.29709	N	1.59	0.40313	L	.	.	.	-2.83	0.59710	D	0.35	0.39153	-1.0450	0.15825	T	0.048	0.20592	T	9	0.0071099997	0.00162	T	0.003285	0.07268	T	0.095	0.27398	.	.	0.0920862733494	0.08535	0.21679922710344496	0.21595	0.466230356228	0.46032	0.267926812172	0.05872	T	0.022751	0.17484	T	-0.553863	0.00276	T	-0.570152	0.15436	T	0.0173244588658675	0.00472	T	0.746125	0.36682	T	0.08172079	0.18790	0.113741964	0.27452	0.08172079	0.18790	0.113741964	0.27451	-3.329	0.14113	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	4.935422	0.81403	27.5	0.99885733328785198	0.96126	0.40356	0.26418	N	AEFBCI	0.345561	0.44067	N	0.0359274567454747	0.43496	2.641381	0.0877162844269016	0.43928	2.68462	0.99990493683615	0.45458	0.549168	0.22868	0	0.547309	0.14657	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.0	3.13	0.35090	1.734000	0.37790	6.572000	0.55971	0.672000	0.70159	0.972000	0.34453	1.000000	0.68203	0.970000	0.54328	0.215:0.0:0.785:0.0	7.574	0.27093	840	0.37365	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.009511	0.008772	0.000000	0.008621	0.012195	0.003788	0.05	932.43	38	chr7	143286202	.	G	A	932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.62;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=1.4;SOR=0.616	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	9	0	1	0
chr7	143398373	143398373	C	T	exonic	EPHA1	.	nonsynonymous SNV	EPHA1:NM_005232:exon7:c.G1412A:p.R471Q	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0020	0.00259585	0.0029	0.0003	0.0005	0	0.0002	0.0022	0.0011	0.0122	0.0028266	437	154602	rs143535859	0.0027	0.0027	0.0023	0.0031	0.0116	0.0026	0.0026	0.0110	0.0108	0.0003	0.0010	7.652e-05	7.557e-05	1.872e-05	0.0099	0.0024	0.0025	0.0116	0.0018	0.0018	0.0016	0.0019	0.0124	0.0016	0.0015	0.0099	0.0090	0.0004	0	0.0007	0	0	0	0.0136	0.0026	0.0005	0.0124	0.595	0.05720	T	0.797	0.04104	T	0.015	0.17086	B	0.008	0.13708	B	0.228235	0.15980	N	0.562825	0.999999	0.08975	N	-0.51	0.02586	N	0.4	0.57261	T	0.39	0.03521	N	0.154	0.15888	-1.0489	0.14705	T	0.068	0.27845	T	10	0.004873246	0.00104	T	.	.	.	0.038	0.09825	.	.	0.324161360171	0.32030	0.3482857113977316	0.34742	0.163144533903	0.18410	0.267599970102	0.05830	T	0.110907	0.42597	T	-0.557582	0.00262	T	-0.564309	0.15975	T	0.0108359602405479	0.00154	T	.	.	.	0.04821828	0.08370	0.040039677	0.04236	0.04821828	0.08369	0.040039677	0.04236	-4.223	0.27083	T	.	.	0.063	0.01491	B	.	.	2.164478	0.27577	17.51	0.7814562810436716	0.12174	0.24837	0.22516	N	AEFDBCI	0.077329	0.15576	N	-0.776125819730992	0.13934	0.6901381	-0.696361390555974	0.17051	0.9049153	0.999725218714266	0.42220	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.98	3.07	0.34476	0.512000	0.22461	1.726000	0.28294	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.078000	0.17132	0.0:0.7847:0.0:0.2152	7.659	0.27561	819	0.41190	Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.010101	0.002717	0.005848	0.050000	0.017241	0.003049	0.011364	0.05	1511.43	36	chr7	143398373	.	C	T	1511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.481;DP=498;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.32;SOR=0.794	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	803.53	120	chr7	143478290	.	A	G	803.53	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.814;DP=831;ExcessHet=4.5998;FS=159.303;InbreedingCoeff=-0.3902;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.371;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:45,10:55:43:0|1:143478290_A_G:0,43,1657:143478290	4	0	6	0
chr7	143511171	143511171	A	C	exonic	OR10AC1	.	nonsynonymous SNV	OR10AC1:NM_001348289:exon2:c.T740G:p.L247W	.	867	652	2	1	0	4	0.0030581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0096	0	0	0	0	0	0	0.0001811	28	154602	rs555229480	0.0008	0.0006	0.0008	0.0008	0.0015	0.0007	0.0007	0.0009	0.0009	0.0003	0.0007	0	0	0.0001	0	0.0011	0.0006	0.0015	0.0006	0.0006	0.0006	0.0006	0.0023	0.0005	0.0004	0.0013	0.0010	0.0003	0	0.0002	0	0	0	0	0.0009	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	836.43	33	chr7	143511171	.	A	C	836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.906;DP=550;ExcessHet=0;FS=4.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.276;SOR=0.982	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,119,1490	9	0	1	0
chr7	143703480	143703480	C	G	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001363538:exon2:c.C486G:p.H162Q,TCAF2:NM_173678:exon2:c.C486G:p.H162Q	.	850	669	2	1	0	4	0.00298063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0116016243343	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772650343	0.0002	0.0042	0.0002	0.0002	0.0008	0.0002	0.0001	0.0004	0.0003	0	0.0006	0.0010	0	4.898e-05	0	0.0002	0	0.0008	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.33418	T	0.037	0.52727	D	0.896	0.49324	P	0.48	0.47081	P	0.002400	0.36650	N	0.291193	1	0.08975	N	.	.	.	1.78	0.25678	T	-4.5	0.78135	D	0.267	0.37301	-1.0426	0.16532	T	0.069	0.28247	T	10	0.1349613	0.25684	T	0.011602	0.29387	T	0.055	0.15663	0.445	0.50302	0.0138822411134	0.00435	0.556508241840187	0.55577	.	.	0.585825324059	0.50907	T	0.181979	0.53384	T	-0.457891	0.01013	T	-0.605362	0.12365	T	0.200157186870678	0.20425	T	0.549745	0.19140	T	0.12086267	0.28432	0.12988277	0.31221	0.12086267	0.28432	0.12988277	0.31220	-7.2	0.55725	T	.	.	0.187	0.40392	B	.;.;.;.	.;.;.;.	-0.678830	0.01370	0.078	0.92347825096218705	0.21748	0.05489	0.11374	N	AEFI	0.149394	0.27347	N	-0.66467671734687	0.17034	0.8731212	-0.955525500882051	0.10795	0.5460256	7.46953667964004E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.92	-4.14	0.03628	-2.012000	0.01539	-20.000000	0.00162	-1.957000	0.00479	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4136:0.1225:0.4639	6.582	0.21797	761	0.50382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.031353	0.000000	0.052419	0.047170	0.000000	0.062500	0.000000	0.000000	0.2	50.42	.	chr7	143703480	.	C	G	50.42	.	AC=2;AF=0.2;AN=10;DP=30;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=25;QD=25.21;SOR=2.303	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	5
chr7	144185634	144185634	A	G	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.A2131G:p.R711G,CTAGE4:NM_198495:exon1:c.A2131G:p.R711G	.	459	1062	1	0	0	1	0.000470588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00143175397523	.	0.00179712	0.0020	0.0005	0.0045	0	0	0.0024	0.0023	0.0016	0.00073	19	26028	rs573728934	0.0025	0.0030	0.0025	0.0025	0.0041	0.0024	0.0024	0.0037	0.0035	0.0003	0.0041	0.0006	0	0.0002	0.0009	0.0028	0.0024	0.0012	0.0019	0.0022	0.0018	0.0020	0.0057	0.0017	0.0016	0.0047	0.0044	0.0004	0	0.0057	0.0009	0	0	0.0038	0.0024	0.0032	0.0016	0.005	0.63226	D	0.335	0.18286	T	0.102	0.25827	B	0.113	0.31689	B	.	.	.	.	1	0.08975	N	2.085	0.57729	M	2.76	0.11515	T	-3.56	0.68880	D	0.28	0.31702	-1.0014	0.29516	T	0.033	0.14029	T	7	0.010407627	0.00232	T	0.001432	0.02139	T	0.057	0.16321	.	.	0.148003135375	0.14442	0.19758286396368985	0.19675	.	.	0.42931625247	0.29114	T	0.214572	0.57620	T	-0.568336	0.00226	T	-0.589433	0.13715	T	0.0332024303770281	0.02505	T	0.874113	0.58433	D	0.14777592	0.33767	0.18381691	0.41395	0.14777592	0.33766	0.18381691	0.41394	-3.811	0.20969	T	.	.	0.146	0.32178	B	.	.	1.660020	0.21171	15.08	0.77091210750287442	0.11733	0.05025	0.10807	N	AEFI	0.079201	0.15993	N	-0.738337379464098	0.14952	0.7492919	-0.887927386073107	0.12380	0.636449	7.75724767434952E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.663000	0.24735	1.331000	0.25669	0.272000	0.18543	0.991000	0.37257	0.141000	0.23092	0.004000	0.06068	.	.	.	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002265	0.005814	0.000000	0.000000	0.000000	0.000000	0.006849	0.004032	0.05	1057.43	42	chr7	144185634	.	A	G	1057.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.552;DP=725;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.64;MQRankSum=-0.147;QD=2.91;ReadPosRankSum=-0.988;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1329	9	0	1	0
chr7	144187123	144187123	G	C	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.C1261G:p.L421V,ARHGEF35:NM_001368318:exon2:c.C1261G:p.L421V	.	441	1064	17	0	0	17	0.00792541	.	.	.	2823292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.064	.	0.0030	0.00119808	0.0059	0.0014	0.0041	0.0002	0.0048	0.0100	0.0042	0.0008	0.003357	519	154602	rs200777966	0.0039	0.0042	0.0040	0.0038	0.0091	0.0038	0.0038	0.0070	0.0063	0.0009	0.0024	0.0023	5.054e-05	0.0034	0.0091	0.0045	0.0040	0.0009	0.0027	0.0031	0.0030	0.0024	0.0044	0.0025	0.0024	0.0040	0.0038	0.0009	0	0.0015	0.0030	0	0.0024	0.0072	0.0044	0.0060	0.0004	0.112	0.28900	T	0.72	0.05345	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.385	0.34509	L	.	.	.	-1.72	0.40850	N	0.049	0.02088	-1.0317	0.19905	T	0.057	0.24092	T	8	0.004467815	0.00092	T	.	.	.	0.064	0.18567	.	.	0.0482279557977	0.04254	0.013045466199505439	0.01262	1.1666736912	0.79651	.	.	.	0.038618	0.24903	T	-0.637492	0.00086	T	-0.686432	0.06597	T	0.00445636160050083	0.00048	T	0.392661	0.09777	T	0.064548075	0.13706	0.05295596	0.08825	0.064548075	0.13705	0.05295596	0.08825	-4.147	0.25980	T	.	.	0.107	0.20196	B	.	.	-1.332221	0.00411	0.008	0.72315887758835451	0.09931	0.00603	0.02688	N	AEFI	0.056296	0.10394	N	-1.67525973034684	0.00933	0.0404088	-1.79071861659118	0.00789	0.03522002	2.65246824704526E-5	0.03498	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	2.34	-4.67	0.03080	-1.148000	0.03295	-0.063000	0.12399	-0.699000	0.04065	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	0.3886:0.2006:0.4109:0.0	4.126	0.09595	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013125	0.000000	0.019499	0.008929	0.000000	0.018519	0.008000	0.009009	0.05	377.43	34	chr7	144187123	.	G	C	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.616;DP=364;ExcessHet=0;FS=5.442;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.09;MQRankSum=1.65;QD=5.55;ReadPosRankSum=2.06;SOR=1.497	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr7	144187825	144187825	C	G	exonic	ARHGEF35	.	nonsynonymous SNV	ARHGEF35:NM_001003702:exon2:c.G559C:p.E187Q,ARHGEF35:NM_001368318:exon2:c.G559C:p.E187Q	.	612	876	28	3	3	37	0.019037	.	.	.	2337684	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00169180372267	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs201944335	0.0064	0.0077	0.0062	0.0067	0.0139	0.0063	0.0062	0.0106	0.0094	0.0013	0.0022	0.0056	2.667e-05	0.0096	0.0139	0.0072	0.0067	0.0056	0.0051	0.0057	0.0047	0.0055	0.0070	0.0047	0.0045	0.0063	0.0061	0.0013	0.0031	0.0014	0.0081	0	0.0116	0.0165	0.0070	0.0068	0.0041	0.119	0.28026	T	0.0	0.92824	D	0.979	0.59044	D	0.569	0.49832	P	.	.	.	.	1	0.08975	N	0.115	0.08564	N	.	.	.	-1.12	0.28906	N	0.056	0.02759	-1.0508	0.14175	T	0.050	0.21143	T	8	0.0052297115	0.00114	T	0.001692	0.02805	T	0.066	0.19193	.	.	0.0611884634855	0.05136	0.012538113747808237	0.01212	1.20996141533	0.80807	.	.	.	0.027401	0.20077	T	-0.324106	0.06567	T	-0.703332	0.05646	T	0.0263475960612305	0.01452	T	0.441056	0.12198	T	0.04931713	0.08737	0.02897034	0.01186	0.04931713	0.08736	0.02897034	0.01186	-3.608	0.17973	T	.	.	0.142	0.31253	B	.	.	0.000811	0.04287	1.074	0.82756175661562648	0.14358	0.02487	0.06962	N	AEFI	0.047717	0.08064	N	-0.732376235384541	0.15117	0.7590086	-0.930539775724398	0.11375	0.5791232	1.16699438665459E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	2.63	-0.617	0.10999	-0.845000	0.04448	-0.671000	0.07934	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.144000	0.20092	0.0:0.5001:0.0:0.4999	5.246	0.14812	932	0.16191	Rho guanine nucleotide exchange factor 5/35, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	267.43	34	chr7	144187825	.	C	G	267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.971;DP=226;ExcessHet=0;FS=3.821;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=25;MQRankSum=0;QD=12.16;ReadPosRankSum=1.09;SOR=0.223	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,496	9	0	1	0
chr7	144319004	144319004	G	A	exonic	OR2A1;OR2A42	.	nonsynonymous SNV	OR2A42:NM_001001802:exon1:c.G880A:p.G294R,OR2A1:NM_001005287:exon2:c.G880A:p.G294R	.	748	764	9	1	0	11	0.0071475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0120	0.0078	0	0	0	0.0036	0	0.1026	.	.	.	rs1282864820	0.0038	0.0045	0.0027	0.0048	0.0173	0.0037	0.0036	0.0163	0.0159	0.0005	0.0012	0.0063	0	0.0002	0.0054	0.0026	0.0031	0.0173	0.0020	0.0028	0.0019	0.0022	0.0196	0.0018	0.0018	0.0157	0.0143	0.0003	0	0.0011	0.0060	0.0002	0.0001	0	0.0024	0.0013	0.0196	0.067	0.35918	T	0.09	0.40267	T	.	.	.	.	.	.	0.952443	0.07664	U	1.041620	1	0.08975	N	-1.16	0.00885	N	1.37	0.34253	T	0.69	0.02195	N	0.102	0.08506	-0.9860	0.33590	T	0.022	0.09147	T	8	0.0032540858	0.00056	T	.	.	.	0.014	0.01968	0.447	0.50629	0.165150595986	0.16160	0.07496083586653808	0.07432	.	.	0.193813040853	0.00300	T	0.001541	0.00986	T	-0.312523	0.07529	T	-0.686694	0.06582	T	0.00598924206153479	0.00066	T	0.234177	0.03217	T	0.093617946	0.21991	0.10290255	0.24676	0.093617946	0.21991	0.10290255	0.24675	1.827	0.00061	T	.	.	0.083	0.09191	B	.;.	.;.	0.059318	0.04708	1.344	0.60138749429665128	0.06391	0.00381	0.01927	N	AEFI	0.079888	0.16143	N	-1.33598359763128	0.03272	0.145902	-1.46145638535985	0.02668	0.1231349	2.73440094774957E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.46	-5.32	0.02511	-0.011000	0.12659	-3.640000	0.02638	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.6236:0.0:0.2418:0.1346	6.510	0.21416	948	0.11499	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009000	0.000000	0.000000	0.009091	0.000000	0.000000	0.006173	0.051471	0.07143	63.11	8	chr7	144319004	.	G	A	63.11	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=27;MQRankSum=0;QD=7.89;ReadPosRankSum=-0.992;SOR=0.368	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,26	6	0	1	3
chr7	144374835	144374835	G	A	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon11:c.G4244A:p.R1415H	.	462	1039	21	0	0	21	0.0100048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.255	.	.	.	0.0080	0.0013	0.0042	0.0026	0.0110	0.0105	0.0071	0.0092	0.0006147	16	26028	rs200961550	0.0043	0.0063	0.0044	0.0043	0.0075	0.0042	0.0041	0.0052	0.0049	0.0009	0.0014	0.0017	0.0024	0.0047	0.0075	0.0051	0.0042	0.0026	0.0039	0.0061	0.0039	0.0039	0.0059	0.0037	0.0035	0.0054	0.0052	0.0011	0.0071	0.0017	0.0027	0.0025	0.0065	0.0075	0.0059	0.0028	0.0035	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.979904	0.39610	D	2.075	0.57047	M	-2.27	0.87433	D	-4.2	0.77965	D	0.296	0.33469	-0.4397	0.70740	T	0.348	0.71265	T	10	0.012568891	0.00270	T	.	.	.	0.561	0.82003	.	.	0.824091401722	0.82242	0.5768530586280034	0.57614	.	.	0.68102478981	0.64415	T	0.35032	0.71805	T	0.117721	0.66143	D	-0.0686785	0.65721	T	0.0219139906017615	0.00899	T	0.929907	0.74113	D	0.5335882	0.69034	0.41468868	0.65605	0.5335882	0.69035	0.41468868	0.65605	-9.133	0.68549	D	.	.	0.364	0.57460	A	.;.	.;.	5.639534	0.92734	33	0.99912501162681988	0.98167	0.90887	0.52449	D	AEFI	0.618592	0.60434	D	0.247242073902422	0.53501	3.518827	0.236437274447454	0.51882	3.366989	0.0191690049949025	0.13135	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.56	5.56	0.83678	5.211000	0.65052	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.462000	0.28163	0.0:0.0:1.0:0.0	17.092	0.86500	953	0.10115	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011440	0.010638	0.008403	0.006098	0.100000	0.000000	0.026087	0.004545	0.05	92.43	39	chr7	144374835	.	G	A	92.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=259;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.84;MQRankSum=0.605;QD=2.89;ReadPosRankSum=-1.3;SOR=0.09	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,754	9	0	1	0
chr7	148383806	148383806	G	A	exonic	CNTNAP2	.	unknown	UNKNOWN	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	0	1472	48	2	0	52	0.0173565	.	.	.	101468	Cortical_dysplasia-focal_epilepsy_syndrome|Inborn_genetic_diseases|not_provided|not_specified	MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0086	0.00539137	0.0086	0.0017	0.0016	0	0.0074	0.0100	0.0112	0.0169	0.0082793	1280	154602	rs138477292	0.0090	0.0090	0.0087	0.0093	0.0168	0.0089	0.0088	0.0161	0.0158	0.0012	0.0023	0.0014	0	0.0086	0.0101	0.0095	0.0078	0.0168	0.0064	0.0064	0.0066	0.0062	0.0161	0.0061	0.0059	0.0133	0.0122	0.0017	0.0340	0.0025	0.0014	0.0002	0.0065	0.0102	0.0098	0.0076	0.0161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.000000	0.004076	0.008772	0.000000	0.008621	0.012195	0.011364	0.05	779.43	35	chr7	148383806	.	G	A	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.332;DP=383;ExcessHet=0;FS=3.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-1.533;SOR=0.307	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1038	9	0	1	0
chr7	149071906	149071906	G	C	exonic	ZNF786	.	nonsynonymous SNV	ZNF786:NM_152411:exon4:c.C866G:p.P289R	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00161652880562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.06980	T	0.36	0.16964	T	0.0	0.02946	B	0.0	0.01387	B	0.001742	0.00822	N	4.005330	1	0.08975	N	-0.07	0.04846	N	3.17	0.07599	T	0.0	0.07008	N	0.051	0.02366	-0.9720	0.36776	T	0.010	0.03492	T	10	0.044201642	0.03351	T	0.001617	0.02625	T	0.032	0.07718	0.315	0.29096	0.0666544352282	0.05500	0.0633853862828874	0.06277	0.0543356685128	0.06005	0.224663853645	0.01596	T	0.020927	0.16390	T	-0.384047	0.02937	T	-0.789433	0.02180	T	0.0302299475167042	0.02025	T	0.258174	0.04088	T	0.040257614	0.05713	0.03699746	0.03260	0.040257614	0.05712	0.03699746	0.03260	-4.383	0.29326	T	.	.	0.093	0.14247	B	.;.	.;.	-1.324776	0.00417	0.008	0.40801598150319912	0.02903	0.02023	0.06073	N	AEFDBHCIJ	0.031335	0.03327	N	-1.76187910634356	0.00645	0.02783877	-1.8371997886008	0.00647	0.02877402	0.999999999999784	0.74766	0.675202	0.55065	0	0.653731	0.59785	0	0.67197	0.60751	0	0.635551	0.53088	0	.	.	3.63	-6.52	0.01703	-0.967000	0.03931	-2.461000	0.03726	-1.544000	0.00972	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2484:0.4144:0.2036:0.1336	2.079	0.03411	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	883.43	37	chr7	149071906	.	G	C	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.511;DP=442;ExcessHet=0;FS=3.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-1.73;SOR=0.856	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1154	9	0	1	0
chr7	149210594	149210594	C	T	exonic	ZNF282	.	nonsynonymous SNV	ZNF282:NM_001303481:exon5:c.C842T:p.P281L,ZNF282:NM_003575:exon5:c.C842T:p.P281L	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00914831038258	0.0040	0.00179712	0.0044	0.0013	0.0046	0	0.0012	0.0067	0.0031	0.0007	0.0037386	578	154602	rs114454649	0.0054	0.0054	0.0055	0.0052	0.0064	0.0053	0.0052	0.0063	0.0062	0.0010	0.0028	0.0063	0	0.0017	0.0010	0.0064	0.0041	0.0005	0.0039	0.0039	0.0041	0.0036	0.0063	0.0036	0.0035	0.0058	0.0056	0.0012	0.0066	0.0035	0.0078	0	0.0010	0.0068	0.0063	0.0052	0.0004	0.029	0.45756	D	0.318	0.31833	T	0.02	0.18235	B	0.011	0.15521	B	0.192609	0.16806	N	0.489690	0.989564	0.40978	D	2.015	0.55033	M	5.16	0.01191	T	-2.94	0.61435	D	0.265	0.33250	-0.9916	0.32193	T	0.009	0.03359	T	10	0.0042740703	0.00086	T	0.009148	0.24059	T	0.091	0.26358	.	.	0.458917189328	0.45515	0.16323846862461214	0.16243	.	.	0.405170679092	0.25787	T	0.034596	0.23385	T	-0.622702	0.00106	T	-0.662117	0.08124	T	0.0427681110284051	0.04196	T	0.80032	0.44603	T	0.05366196	0.10188	0.06681093	0.13738	0.05366196	0.10187	0.06681093	0.13737	-8.619	0.65215	D	.	.	0.132	0.28464	B	.;.	.;.	2.692757	0.35150	19.82	0.98169380140775842	0.38848	0.30538	0.24108	N	AEFDBCI	0.166440	0.29303	N	-0.485497990652822	0.22555	1.205192	-0.306069914182919	0.27903	1.551641	0.999995396982122	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.29	5.29	0.74430	0.327000	0.19408	7.481000	0.59259	0.599000	0.40250	0.000000	0.06391	1.000000	0.68203	0.802000	0.37819	0.0:1.0:0.0:0.0	14.440	0.66887	929	0.16858	.;.	.	.	ZNF282|ZNF282|ZNF282|ZNF282|ZNF282|ZNF282|ZNF282|ZNF282	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Nerve_Tibial|Prostate|Skin_Sun_Exposed_Lower_leg	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.002717	0.000000	0.050000	0.000000	0.006173	0.003788	0.05	1410.43	34	chr7	149210594	.	C	T	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.188;DP=425;ExcessHet=0;FS=3.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.361;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	9	0	1	0
chr7	149725329	149725329	A	G	exonic	KRBA1	.	nonsynonymous SNV	KRBA1:NM_001290187:exon10:c.A1243G:p.S415G,KRBA1:NM_032534:exon10:c.A1141G:p.S381G	.	418	1103	1	0	0	1	0.000453104	.	.	.	3272835	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0127904497065	.	.	7.526e-05	0	0.0003	0.0004	0	4.943e-05	0	0	2.59e-05	4	154602	rs755934763	2.916e-05	2.941e-05	2.756e-05	3.078e-05	0.0002	2.184e-05	1.936e-05	6.073e-05	4.194e-05	3.054e-05	0.0001	0	2.596e-05	0	0.0002	2.088e-05	1.678e-05	0.0001	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0.0005	0.0002	0.077	0.34095	T	0.009	0.66756	D	0.873	0.47975	P	0.319	0.41696	B	0.001741	0.38106	N	0.121491	0.940937	0.26794	N	1.87	0.49600	L	1.08	0.39401	T	-3.16	0.64246	D	0.29	0.32812	-1.0703	0.09348	T	0.066	0.27121	T	10	0.11376527	0.21383	T	0.01279	0.31668	T	0.057	0.16321	0.248	0.18447	0.101711395817	0.09552	0.10771126150855678	0.10700	.	.	0.459521085024	0.33244	T	0.22004	0.58322	T	-0.303818	0.08305	T	-0.458855	0.26724	T	0.119123424094582	0.14344	T	0.612539	0.23323	T	0.053158943	0.10018	0.077330805	0.17217	0.053158943	0.10018	0.077330805	0.17216	-6.135	0.47395	T	.	.	0.141	0.32178	B	.;.;.	.;.;.	1.477795	0.19028	14.05	0.98866474977528385	0.47563	0.64595	0.32458	D	AEFBCI	0.125890	0.24260	N	0.00110961834246757	0.41905	2.515063	0.0623938460719152	0.42675	2.585352	0.999979264416045	0.50053	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.18	4.04	0.46262	0.274000	0.18443	2.101000	0.30604	-0.041000	0.17446	0.466000	0.26691	0.702000	0.26239	0.229000	0.22707	0.8992:0.0:0.1008:0.0	6.889	0.23401	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	819.43	35	chr7	149725329	.	A	G	819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.176;DP=377;ExcessHet=0;FS=2.002;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.3;SOR=1.015	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	9	0	1	0
chr7	151016131	151016133	CTC	-	exonic	ATG9B	.	nonframeshift deletion	ATG9B:NM_001317056:exon12:c.2623_2625del:p.E875del	.	414	1087	21	0	0	21	0.0095672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.000599042	0.0017	0	0	0	0	0.0007	0	0.0047	0.0002264	35	154602	rs575751217	0.0004	0.0004	0.0002	0.0005	0.0036	0.0003	0.0003	0.0032	0.0031	3.185e-05	0.0001	0	0	4.1e-05	0.0027	0.0002	0.0006	0.0036	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0002	0.0034	0.0029	4.814e-05	0	0.0005	0	0	9.418e-05	0	0.0002	0.0005	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2129.39	34	chr7	151016130	.	TCTC	T	2129.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.746;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.18;ReadPosRankSum=2.14;SOR=0.747	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1225	9	0	1	0
chr7	151071453	151071453	G	A	exonic	SLC4A2	.	nonsynonymous SNV	SLC4A2:NM_001199693:exon13:c.G2012A:p.R671Q,SLC4A2:NM_001199694:exon13:c.G1997A:p.R666Q,SLC4A2:NM_001199692:exon14:c.G2039A:p.R680Q,SLC4A2:NM_003040:exon14:c.G2039A:p.R680Q	.	407	1113	2	0	0	2	0.000897666	.	.	.	3596833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.476	0.237599229692	.	0.000199681	0.0002	0	0	0	0	5.345e-05	0	0.0012	0.0001423	22	154602	rs562416008	0.0001	0.0001	6.969e-05	0.0001	0.0013	8.744e-05	8.229e-05	0.0011	0.0011	0	4.48e-05	0	7.562e-05	0	0	2.069e-05	4.976e-05	0.0013	6.566e-05	6.561e-05	0	0.0001	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	0	0	0	0	0	0	0	2.941e-05	0	0.0017	0.125	0.27310	T	0.254	0.23433	T	0.335	0.33330	B	0.112	0.31615	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	3.085	0.87354	M	-1.45	0.80899	T	-1.32	0.32991	N	0.561	0.58543	-0.2036	0.77577	T	0.408	0.75720	T	10	0.12158382	0.23052	T	0.237599	0.88551	D	0.476	0.76816	0.658	0.79585	0.846883271944	0.84541	0.8553680442539353	0.85499	1.42498533674	0.85687	0.67320984602	0.63295	T	0.465	0.80032	T	0.032803	0.56096	T	-0.0805988	0.64860	T	0.164188548922539	0.18176	T	0.839616	0.51418	T	0.109016694	0.25775	0.0923391	0.21757	0.109016694	0.25774	0.0923391	0.21756	-10.238	0.75998	D	.	.	0.095	0.15070	B	.;.;.;.	.;.;.;.	4.473360	0.69731	25.4	0.99885282009568976	0.96049	0.49037	0.28342	N	AEFDBCI	0.544536	0.55942	D	-0.0726887882599956	0.38594	2.262769	-0.0690236040024362	0.36678	2.137624	0.999999998862618	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	1.226000	0.32167	4.509000	0.43640	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.447000	0.27828	0.1022:0.0:0.8978:0.0	8.564	0.32692	889	0.27310	Bicarbonate transporter, C-terminal;Bicarbonate transporter, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1261.43	35	chr7	151071453	.	G	A	1261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.828;DP=498;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.265;SOR=0.82	GT:AD:DP:GQ:PL	0/1:72,58:130:99:1273,0,1569	9	0	1	0
chr7	151180968	151180968	C	T	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_001142459:exon3:c.G1075A:p.V359I,ASB10:NM_001142460:exon3:c.G1075A:p.V359I,ASB10:NM_080871:exon3:c.G1030A:p.V344I	Glaucoma 1, open angle, F	337	1168	15	2	0	19	0.00806794	.	.	.	1217971	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.175	.	0.0003	0.0205671	0.0144	0.0006	0.0010	0	0	0.0005	0.0172	0.1226	0.0082793	1280	154602	rs201566253	0.0044	0.0044	0.0024	0.0064	0.0685	0.0043	0.0042	0.0670	0.0664	0.0002	7.314e-05	0	0.0007	0.0001	0.0019	0.0002	0.0049	0.0685	0.0024	0.0024	0.0015	0.0033	0.0703	0.0022	0.0021	0.0641	0.0617	0.0003	0	6.533e-05	0	0.0002	0	0	0.0001	0.0009	0.0703	0.475	0.08917	T	0.686	0.18505	T	0.985	0.61118	D	0.486	0.51761	P	0.000031	0.55875	N	0.122857	0.959583	0.26180	N	0.27	0.09956	N	-0.31	0.68030	T	-0.49	0.18042	N	0.227	0.26354	-0.8513	0.51878	T	0.242	0.61071	T	10	0.0025051832	0.00038	T	.	.	.	0.175	0.44197	.	.	0.337868961071	0.33390	0.0969552435596108	0.09627	0.0568891413586	0.06287	0.655414581299	0.60755	T	0.01083	0.09734	T	-0.533977	0.00364	T	-0.487148	0.23689	T	0.0284593719318178	0.01756	T	0.792821	0.49290	T	0.02369536	0.01131	0.034526173	0.02536	0.028732017	0.02255	0.034526173	0.02535	-6.419	0.49657	T	.	.	0.145	0.33389	B	.;.;.	.;.;.	1.927288	0.24478	16.41	0.9793777323641083	0.37006	0.68740	0.33917	D	AEFDBHCI	0.100005	0.20118	N	0.000967980602212599	0.41900	2.514552	-0.0148498884879075	0.39044	2.309081	0.999462771702338	0.39843	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.12	4.24	0.49486	1.960000	0.40046	3.869000	0.40177	0.549000	0.26987	0.965000	0.33920	1.000000	0.68203	0.013000	0.09966	0.0:0.6944:0.1453:0.1603	6.877	0.23331	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014887	0.000000	0.002732	0.018072	0.100000	0.008621	0.003165	0.038168	0.05	1653.43	37	chr7	151180968	.	C	T	1653.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=634;ExcessHet=0;FS=5.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.419;SOR=1.135	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1665,0,1214	9	0	1	0
chr7	151187631	151187631	G	C	exonic	ASB10	.	nonsynonymous SNV	ASB10:NM_080871:exon1:c.C92G:p.S31C	Glaucoma 1, open angle, F	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0514428053826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214454118	7.936e-06	8.209e-06	7.091e-06	8.812e-06	0.0002	4.26e-06	3.11e-06	4.73e-06	3.45e-06	0	0	0	0	0	0.0002	9.355e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.04	0.50809	D	0.545	0.37995	P	0.242	0.38699	B	0.097902	0.02519	N	1.826310	1	0.08975	N	.	.	.	-0.38	0.69027	T	-1.58	0.38151	N	0.258	0.29197	-0.7776	0.56437	T	0.230	0.59620	T	9	0.16735628	0.31226	T	0.051443	0.64664	D	0.172	0.43662	0.521	0.62368	0.4018988957	0.39804	.	.	.	.	.	.	.	.	.	.	-0.136098	0.30513	T	-0.417786	0.31331	T	0.288890570402145	0.24543	T	0.425557	0.11413	T	.	.	.	.	.	.	.	.	-4.289	0.28023	T	.	.	0.078	0.06710	B	.	.	1.227648	0.16223	12.40	0.98460301739318523	0.41734	0.25080	0.22591	N	AEFBI	0.121820	0.23667	N	-0.377981273400016	0.26254	1.431523	-0.501004591343504	0.22127	1.200275	0.991417946025243	0.32481	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.67	1.51	0.22094	1.286000	0.32877	4.491000	0.43571	0.676000	0.76740	0.007000	0.17678	0.793000	0.26880	0.055000	0.15596	0.0:0.3697:0.6303:0.0	10.234	0.42447	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	4018.43	91	chr7	151187631	.	G	C	4018.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.38;DP=473;ExcessHet=0;FS=1.222;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=0.813;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	8	1	1	0
chr7	151235355	151235355	C	T	exonic	CHPF2	.	nonsynonymous SNV	CHPF2:NM_019015:exon2:c.C571T:p.R191C,CHPF2:NM_001284295:exon3:c.C547T:p.R183C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0718127914657	.	.	8.25e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs771120675	8.894e-06	8.893e-06	8.169e-06	9.627e-06	2.519e-05	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	0	0	2.519e-05	0	0	8.993e-06	0	2.319e-05	1.971e-05	1.97e-05	1.284e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.008	0.58626	D	0.008	0.67890	D	0.999	0.90584	D	0.832	0.67021	P	0.000006	0.62929	D	0.104471	1	0.81001	D	2.565	0.75005	M	1.56	0.29602	T	-4.45	0.78553	D	0.696	0.70527	-0.8784	0.49888	T	0.165	0.50193	T	9	0.81862843	0.81082	D	0.071813	0.71368	D	0.222	0.51872	0.54	0.65161	0.631150896671	0.62813	0.8253146068563832	0.82489	0.648742462371	0.58216	0.584003448486	0.50649	T	0.486799	0.81313	T	0.0277747	0.55427	T	-0.182394	0.56301	T	0.973623991012573	0.70172	D	0.927707	0.73352	D	0.22784947	0.45493	0.16850013	0.38815	0.22784947	0.45493	0.16850013	0.38814	-16.062	0.97852	D	.	.	0.436	0.63462	A	.;.	.;.	5.340581	0.89608	31	0.9993859169007564	0.99698	0.97532	0.75363	D	AEFBCI	0.839129	0.75657	D	0.537585492625135	0.69330	5.34154	0.514141433817559	0.68939	5.290007	0.999999998150509	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.43	4.53	0.55009	4.913000	0.63039	6.105000	0.53597	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.155:0.845:0.0:0.0	14.215	0.65332	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2242.43	35	chr7	151235355	.	C	T	2242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=516;ExcessHet=0;FS=5.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.196;SOR=0.792	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1493	9	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.3	5577.98	367	chr7	152229940	.	A	G	5577.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.129;DP=2706;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=44.55;MQRankSum=0.883;QD=3.72;ReadPosRankSum=0.293;SOR=0.714	GT:AD:DP:GQ:PL	0/1:193,51:244:99:581,0,6542	4	0	6	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.2	150.59	48	chr7	152235831	.	C	G	150.59	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.331;DP=743;ExcessHet=1.5895;FS=9.184;InbreedingCoeff=-0.2504;MLEAC=4;MLEAF=0.2;MQ=51.86;MQRankSum=-2.17;QD=0.55;ReadPosRankSum=-0.963;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,8:67:28:.:.:28,0,2236:.	6	0	4	0
chr7	152248140	152248140	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon14:c.A2294G:p.E765G	.	414	990	118	0	0	118	0.056244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	.	.	.	0.0302	0.0363	0.0099	0.0104	0.0305	0.0277	0.0379	0.0610	0.0002305	6	26028	rs202098135	6.94e-06	0.0013	1.382e-06	1.255e-05	3.545e-05	3.51e-06	2.56e-06	9.42e-06	4.61e-06	0	2.26e-05	0	0	0	0	4.565e-06	1.676e-05	3.545e-05	2.645e-05	0.0017	0	5.412e-05	7.298e-05	8.18e-06	5.17e-06	1.935e-05	1.036e-05	7.298e-05	0	6.568e-05	0	0	0	0	0	0	0	0.004	0.68238	D	.	.	.	0.06	0.23119	B	0.018	0.18489	B	0.000267	0.46590	D	0.000000	0.84987	0.35204	D	2.38	0.68558	M	-1.93	0.84919	D	-3.01	0.62518	D	0.21	0.23380	-0.5589	0.66446	T	0.389	0.74327	T	10	0.004967302	0.00106	T	.	.	.	0.213	0.50496	.	.	.	.	0.4837393690712426	0.48293	0.0330274093867	0.03452	0.340184807777	0.16466	T	0.358057	0.72467	T	0.0232051	0.54813	T	-0.204444	0.54224	T	0.0378793499843809	0.03311	T	0.818018	0.47523	T	0.14122255	0.32550	0.16089383	0.37452	0.14122255	0.32549	0.16089383	0.37451	-4.695	0.33343	T	0.399851985512444	0.49182	0.086	0.10883	B	.;.	.;.	2.783319	0.36570	20.3	0.99485148167057358	0.67124	0.93407	0.58135	D	AEFGBI	0.154510	0.27954	N	-0.430237841499609	0.24415	1.318133	-0.330419226512641	0.27121	1.502754	0.958528990205834	0.28368	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.68	4.53	0.55009	2.762000	0.47278	1.545000	0.27254	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.326000	0.25110	0.0:0.1446:0.0:0.8554	8.793	0.34025	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.058409	0.106061	0.028533	0.055556	0.050000	0.051724	0.060976	0.049242	0.05	173.43	38	chr7	152248140	.	T	C	173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.72;DP=936;ExcessHet=0;FS=38.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.89;MQRankSum=-5.476;QD=1.03;ReadPosRankSum=-0.875;SOR=5.311	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1478	9	0	1	0
chr7	152265209	152265209	G	A	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.C1013T:p.S338L	.	421	1031	70	0	0	70	0.032833	0.0269	0.306	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	.	0.0013	0.0050	0.0003	0.0002	0.0002	0.0009	0	0.0024	3.84e-05	1	26028	rs763762478	2.038e-05	0.0079	2.235e-05	1.838e-05	9.681e-05	1.43e-05	1.236e-05	3.144e-05	2.135e-05	9.681e-05	6.956e-05	7.854e-05	0	1.934e-05	0	1.103e-05	3.412e-05	7.373e-05	2.013e-05	0.0049	1.309e-05	2.752e-05	0.0002	5.35e-06	2.48e-06	.	.	2.503e-05	0	0	0	0	0	0	1.49e-05	0	0.0002	0.165	0.23271	T	.	.	.	0.999	0.77913	D	0.978	0.74104	D	0.002566	0.36316	U	0.000000	0.999109	0.46078	D	1.375	0.34280	L	-5.19	0.98838	D	-2.15	0.49846	N	0.541	0.64733	0.975	0.96781	D	0.935	0.97856	D	10	0.120939314	0.22917	T	0.135747	0.81821	D	0.505	0.78662	.	.	0.780251043478	0.77822	0.8104037300995125	0.80995	2.68827321764	0.98538	0.709780871868	0.68562	T	0.093356	0.39194	T	0.194455	0.73376	D	0.0415453	0.73029	D	0.563259899616241	0.34978	D	0.915408	0.69775	D	0.1218603	0.28647	0.12725215	0.30636	0.1218603	0.28646	0.12725215	0.30635	-8.009	0.61132	D	.	.	0.295	0.52574	B	.;.	.;.	5.197887	0.87191	29.2	0.99103779157527894	0.52546	0.99285	0.93953	D	AEFDGI	0.879208	0.80500	D	0.330948350371497	0.57744	3.942901	0.306496970797665	0.55922	3.754958	0.999408517909567	0.39524	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	4.65	0.57626	7.653000	0.82698	11.796000	0.96513	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	17.916	0.88868	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004232	0.016393	0.002755	0.000000	0.000000	0.000000	0.011278	0.000000	0.05	157.43	172	chr7	152265209	.	G	A	157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.22;DP=1615;ExcessHet=0;FS=7.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.27;MQRankSum=-4.069;QD=0.75;ReadPosRankSum=-2.855;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:141,0:141:99:.:.:0,120,1800:.	9	0	1	0
chr7	152265211	152265211	T	C	splicing	KMT2C	NM_170606:exon8:c.1013-2A>G	.	.	.	421	1032	69	0	0	69	0.0323488	1.0000	0.856	YES	1292103	Kleefstra_syndrome_2|not_provided	MONDO:MONDO:0054701,MedGen:C4540395,OMIM:617768|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0003	0.0002	0.0002	0.0008	0	0.0023	3.84e-05	1	26028	rs751158858	1.754e-05	0.0078	1.674e-05	1.836e-05	7.365e-05	1.204e-05	1.018e-05	3.141e-05	2.134e-05	6.35e-05	4.622e-05	7.843e-05	0	0	0	1.011e-05	3.405e-05	7.365e-05	2.673e-05	0.0048	1.305e-05	4.11e-05	0.0004	8.25e-06	5.21e-06	7.479e-05	3.099e-05	2.48e-05	0	0	0	0	0	0	1.488e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101255	0.64428	D	-0.0923307	0.63986	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.617057	0.95490	35	0.97620013067163336	0.34960	0.96606	0.69985	D	AEDGI	.	.	.	0.831717572276499	0.88043	9.432911	0.606287934712574	0.75395	6.30307	0.999997611856489	0.74766	0.099367	0.02607	0	0.104858	0.03167	0	0.066767	0.01867	0	0.074238	0.01845	1	0.850816	0.51753	4.65	4.65	0.57626	7.580000	0.81812	7.866000	0.71703	0.603000	0.45986	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	14.395	0.66573	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	157.43	172	chr7	152265211	.	T	C	157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.15;DP=1603;ExcessHet=0;FS=7.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.31;MQRankSum=-4.069;QD=0.75;ReadPosRankSum=-2.352;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:141,0:141:99:.:.:0,120,1800:.	9	0	1	0
chr7	154968513	154968513	G	A	exonic	PAXIP1	.	nonsynonymous SNV	PAXIP1:NM_007349:exon7:c.C1688T:p.A563V	.	.	.	.	.	.	.	.	.	.	.	2365153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00861691614564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1055680929	5.639e-05	6.509e-05	5.826e-05	5.472e-05	0.0007	4.22e-05	3.705e-05	0.0002	0.0001	5.526e-05	0.0002	4.804e-05	3.069e-05	0	0.0007	4.622e-05	5.768e-05	7.685e-05	9.238e-05	9.211e-05	0.0001	6.755e-05	0.0001	5.55e-05	4.382e-05	6.31e-05	4.318e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.03	0.45393	D	0.658	0.06554	T	0.001	0.07471	B	0.0	0.01387	B	0.681028	0.10258	U	0.816354	0.976436	0.25374	N	1.735	0.44892	L	0.94	0.43672	T	-0.27	0.11366	N	0.077	0.05162	-1.0304	0.20325	T	0.080	0.31824	T	10	0.0493235	0.04506	T	0.008617	0.22779	T	0.044	0.11924	.	.	0.266724437049	0.26276	0.10754359916396601	0.10683	0.146202403952	0.16504	0.316844314337	0.12943	T	0.040896	0.25679	T	-0.516551	0.00461	T	-0.695053	0.06100	T	0.0242716342263634	0.01180	T	0.80472	0.45238	T	0.026561217	0.01729	0.045030825	0.05968	0.026561217	0.01729	0.045030825	0.05967	-3.472	0.16042	T	.	.	0.089	0.12132	B	.;.	.;.	1.462153	0.18848	13.96	0.4550388778087075	0.03576	0.41958	0.26772	N	AEFDBI	0.100629	0.20230	N	-0.823738180079354	0.12704	0.6210081	-0.815458493162267	0.14121	0.7362065	0.958034954853359	0.28339	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.55	3.67	0.41236	0.315000	0.19200	0.593000	0.19842	0.676000	0.76740	0.006000	0.17386	0.000000	0.08366	0.002000	0.04165	0.0841:0.0:0.9159:0.0	12.296	0.54170	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000681	0.000000	0.000000	0.003378	0.000000	0.000000	0.000000	0.000000	0.05	2122.43	35	chr7	154968513	.	G	A	2122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.25;DP=499;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.422;SOR=0.618	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1467	9	0	1	0
chr7	156736511	156736511	C	T	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G862A:p.D288N,LMBR1:NM_001363409:exon10:c.G862A:p.D288N	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00204923495955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.437	0.13441	T	.	.	.	.	.	.	0.086552	0.02409	U	3.402510	1	0.08975	N	.	.	.	0.96	0.42888	T	-0.36	0.13035	N	.	.	-1.0578	0.12311	T	0.060	0.25163	T	9	0.085886	0.14546	T	0.002049	0.03748	T	0.039	0.10176	.	.	0.366848117066	0.36290	.	.	.	.	.	.	.	0.002359	0.01759	T	-0.396076	0.02457	T	-0.806712	0.01740	T	0.0450451410617822	0.04610	T	0.467453	0.13767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06479	B	.	.	0.048382	0.04624	1.289	0.56156640439083361	0.05492	0.00450	0.02181	N	AEFBI	0.054002	0.09779	N	-1.02538935071908	0.08079	0.3775781	-1.12821899440288	0.07165	0.3475029	0.0760278551513058	0.15715	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	0.924	0.18544	-0.377000	0.07513	-1.091000	0.06358	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.781:0.0:0.219	4.206	0.09947	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	419.4	152	chr7	156736511	.	C	T	419.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.977;DP=1177;ExcessHet=0;FS=138.026;InbreedingCoeff=-0.1786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.682;SOR=7.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	5	0	1	4
chr7	156736513	156736513	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G860C:p.G287A,LMBR1:NM_001363409:exon10:c.G860C:p.G287A	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00150614267822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.03730	T	0.742	0.04947	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.08975	N	.	.	.	1.07	0.39586	T	0.36	0.03700	N	.	.	-1.0354	0.18731	T	0.036	0.15683	T	9	0.061228067	0.07643	T	0.001506	0.02318	T	0.015	0.02232	.	.	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.375517	0.03324	T	-0.777181	0.02539	T	0.0953895747661591	0.11842	T	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18037	B	.	.	-0.217594	0.03003	0.453	0.096758296991010767	0.00104	0.00485	0.02305	N	AEFBI	0.066300	0.12978	N	-1.38224089824468	0.02805	0.1243675	-1.49979183924639	0.02347	0.1077814	0.10501068513891	0.16491	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	-1.69	0.07747	-0.556000	0.06082	-1.611000	0.05064	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3893:0.2507:0.36	2.769	0.05000	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	731.52	144	chr7	156736513	.	C	G	731.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.933;DP=1309;ExcessHet=0;FS=137.744;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=0.781;SOR=7.824	GT:AD:DP:GQ:PL	0/0:148,0:148:72:0,72,2731	6	0	1	3
chr8	1780551	1780551	G	A	exonic	CLN8	.	nonsynonymous SNV	CLN8:NM_018941:exon3:c.G845A:p.R282Q	Ceroid lipofuscinosis, neuronal, 8, Autosomal recessive;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	407358	not_provided|Neuronal_ceroid_lipofuscinosis|Neuronal_ceroid_lipofuscinosis_8	MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MONDO:MONDO:0010830,MedGen:C1838570,OMIM:600143,Orphanet:168491,Orphanet:228354,Orphanet:79264	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.106327361735	.	.	8.336e-06	0	8.675e-05	0	0	0	0	0	6.5e-06	1	154602	rs766172825	1.095e-05	1.094e-05	8.168e-06	1.375e-05	0.0001	6.48e-06	5.24e-06	5.395e-05	4.042e-05	2.987e-05	2.236e-05	0	0	0	0	2.698e-06	3.312e-05	0.0001	1.97e-05	1.97e-05	1.284e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	6.539e-05	0	0	0	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.919481	0.07467	N	1.054820	1	0.08975	N	-2.175	0.00131	N	-2.83	0.91249	D	0.34	0.03824	N	0.027	0.00571	-0.6797	0.61386	T	0.277	0.64885	T	10	0.019819587	0.00448	T	0.106327	0.78188	D	0.208	0.49714	0.243	0.17677	0.438701194649	0.43488	0.34708779665183737	0.34622	0.0424580993417	0.04578	0.214462831616	0.01015	T	0.100776	0.40691	T	-0.244612	0.14766	T	-0.492291	0.23150	T	0.0365639808389045	0.03079	T	.	.	.	0.024997618	0.01388	0.028864784	0.01164	0.024997618	0.01388	0.028864784	0.01164	-3.06	0.10842	T	.	.	0.059	0.00754	B	.;.;.;.;.	.;.;.;.;.	-0.077241	0.03778	0.793	0.88688427289703875	0.18175	0.00181	0.01060	N	AEFBI	0.014795	0.00251	N	-1.57353169323604	0.01402	0.06112738	-1.46862520407756	0.02606	0.1201241	0.999733326018296	0.42341	0.661447	0.50134	0	0.653731	0.59785	0	0.644132	0.48003	0	0.635551	0.53088	0	.	.	5.17	-2.02	0.06981	-0.200000	0.09480	-2.780000	0.03369	-0.733000	0.03713	0.002000	0.15269	0.000000	0.08366	0.496000	0.28927	0.4888:0.1406:0.2351:0.1356	1.255	0.01869	976	0.04745	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	543.43	34	chr8	1780551	.	G	A	543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.291;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	9	0	1	0
chr8	2079577	2079577	G	A	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon13:c.G1480A:p.E494K	.	421	1100	1	0	0	1	0.000454339	.	.	.	2346197	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0103279850911	0.0002	0.000199681	0.0001	0.0012	0.0002	0	0	1.498e-05	0	0	0.0001035	16	154602	rs138854390	5.678e-05	5.746e-05	6.262e-05	5.088e-05	0.0016	4.676e-05	4.301e-05	0.0013	0.0012	0.0016	0.0001	0	0	0	0.0005	2.698e-06	0.0003	1.159e-05	0.0004	0.0004	0.0003	0.0005	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0002	0	0	0	0	1.47e-05	0	0	0.898	0.02436	T	0.919	0.02882	T	.	.	.	.	.	.	0.110140	0.19455	N	0.527351	1	0.81001	D	.	.	.	0.74	0.50459	T	-0.05	0.07736	N	0.227	0.25499	-1.0718	0.09022	T	0.083	0.32499	T	10	0.026997864	0.00854	T	0.010328	0.26741	T	0.111	0.31313	.	.	0.599859248137	0.59666	0.27939611149503224	0.27852	0.00840729258209	0.00763	0.344211697578	0.17066	T	.	.	.	-0.485207	0.00690	T	-0.526091	0.19678	T	0.0136030649047928	0.00252	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34071	B	.	.	2.043034	0.25971	16.95	0.73848754645259795	0.10477	0.84493	0.43575	D	AEFDBHCIJ	0.275645	0.39056	N	-0.473732770974848	0.22944	1.228653	-0.340488080046915	0.26804	1.482991	0.999999396458713	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	5.26	3.43	0.38372	3.918000	0.56144	6.462000	0.55696	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.348000	0.25613	0.0707:0.1278:0.8015:0.0	11.083	0.47291	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1468.43	34	chr8	2079577	.	G	A	1468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=428;ExcessHet=0;FS=1.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.319;SOR=0.683	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr8	2085363	2085363	G	C	exonic	MYOM2	.	nonsynonymous SNV	MYOM2:NM_003970:exon14:c.G1617C:p.K539N	.	436	1067	18	1	0	20	0.00928505	.	.	.	3216596	MYOM2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.080	0.0241659818376	0.0022	0.00179712	0.0028	0.0002	0.0020	0	0.0019	0.0036	0.0034	0.0035	0.0027037	418	154602	rs137923713	0.0029	0.0029	0.0029	0.0029	0.0132	0.0029	0.0028	0.0108	0.0099	0.0007	0.0024	3.826e-05	0	0.0030	0.0132	0.0031	0.0033	0.0037	0.0025	0.0025	0.0024	0.0025	0.0037	0.0023	0.0022	0.0031	0.0030	0.0006	0.0088	0.0027	0.0003	0.0004	0.0029	0.0136	0.0035	0.0043	0.0037	0.032	0.44694	D	0.112	0.37037	T	.	.	.	.	.	.	0.005828	0.32475	N	0.294315	0.968646	0.81001	D	.	.	.	0.63	0.53088	T	-1.33	0.33197	N	0.584	0.60495	-1.0105	0.26760	T	0.086	0.33298	T	10	0.012243539	0.00264	T	0.024166	0.47155	T	0.080	0.23350	0.474	0.55020	0.712770418609	0.71025	0.5107287513007086	0.50994	0.0278151165772	0.02851	0.432543307543	0.29556	T	.	.	.	-0.535084	0.00358	T	-0.54286	0.18016	T	0.0275743834854516	0.01626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65252	A	.	.	2.325149	0.29777	18.23	0.99417749304955194	0.63597	0.89452	0.49926	D	AEFDBI	0.426587	0.49088	N	-0.279700014692529	0.29933	1.66441	-0.15768430371848	0.33113	1.890835	0.969717760086207	0.29150	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.285000	0.32866	3.765000	0.39732	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.2764:0.0:0.7236:0.0	9.066	0.35628	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.010101	0.021739	0.023392	0.050000	0.008621	0.009146	0.011364	0.05	1486.43	37	chr8	2085363	.	G	C	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=467;ExcessHet=0;FS=2.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.909;SOR=0.937	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,956	9	0	1	0
chr8	3230165	3230165	C	G	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon27:c.G4220C:p.R1407T	.	420	1076	25	1	0	27	0.012391	.	.	.	711501	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.159	.	0.0051	0.00239617	0.0059	0.0005	0.0021	0	0.0031	0.0066	0.0046	0.0135	0.0053622	829	154602	rs147245019	0.0057	0.0057	0.0053	0.0062	0.0135	0.0056	0.0056	0.0128	0.0125	0.0005	0.0028	0.0036	0.0001	0.0034	0.0135	0.0057	0.0055	0.0134	0.0043	0.0043	0.0044	0.0041	0.0130	0.0040	0.0039	0.0105	0.0095	0.0009	0.0011	0.0042	0.0014	0	0.0037	0.0068	0.0064	0.0028	0.0130	0.395	0.10659	T	0.01	0.66756	D	0.995	0.67487	D	0.989	0.78396	D	0.000016	0.62929	D	0.066217	0.999596	0.47742	D	.	.	.	0.04	0.62051	T	-3.58	0.69118	D	0.742	0.77978	-0.7075	0.60075	T	0.266	0.63716	T	10	0.009412646	0.00212	T	.	.	.	0.358	0.67872	.	.	0.613170842667	0.61005	0.4483159718688613	0.44749	.	.	0.560841441154	0.47386	T	0.04599	0.27464	T	-0.260785	0.12808	T	-0.136345	0.60434	T	0.0295759056904568	0.01924	T	0.967303	0.88169	D	0.34607485	0.56759	0.20644149	0.44858	0.30611086	0.53447	0.20644149	0.44857	-13.847	0.92549	D	.	.	0.424	0.60863	A	.;.;.;.;.;.	.;.;.;.;.;.	4.448986	0.69136	25.3	0.96387653285315067	0.29640	0.96891	0.71503	D	AEFI	0.744794	0.68766	D	0.408776063695069	0.61904	4.397973	0.457243474947722	0.65183	4.791782	0.994956101476119	0.33880	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	3.832000	0.55485	7.564000	0.60548	0.597000	0.34315	0.996000	0.39380	0.924000	0.28388	0.961000	0.51904	0.0:1.0:0.0:0.0	20.860	0.99763	889	0.27310	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.008621	0.012195	0.015152	0.05	1078.43	37	chr8	3230165	.	C	G	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.306;DP=410;ExcessHet=0;FS=4.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.884;SOR=0.371	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	9	0	1	0
chr8	6439052	6439052	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172574:exon6:c.G536A:p.R179K,MCPH1:NM_001322042:exon6:c.G536A:p.R179K,MCPH1:NM_001322043:exon6:c.G530A:p.R177K,MCPH1:NM_001322045:exon6:c.G434A:p.R145K,MCPH1:NM_001363979:exon6:c.G536A:p.R179K,MCPH1:NM_001363980:exon6:c.G536A:p.R179K,MCPH1:NM_024596:exon6:c.G536A:p.R179K	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0225692198484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999719	0.81001	D	2.585	0.75554	M	2.86	0.13434	T	-1.66	0.44657	N	0.646	0.76481	-0.9685	0.37510	T	0.124	0.42799	T	10	0.60396415	0.67069	D	0.022569	0.45471	T	0.181	0.45247	0.232	0.16005	0.669386746705	0.66659	0.4669121289294924	0.46610	.	.	0.407298445702	0.26083	T	0.346928	0.71512	T	-0.0843929	0.38997	T	-0.359001	0.38168	T	0.93335622549057	0.60005	D	.	.	.	0.45933947	0.64629	0.41183105	0.65403	0.45933947	0.64630	0.41183105	0.65403	-9.541	0.71114	D	.	.	0.236	0.46983	B	.;.	.;.	4.240921	0.64293	24.7	0.99465292039328934	0.66049	0.95370	0.64455	D	AEFBI	0.490283	0.52783	N	0.648766155877296	0.76290	6.459061	0.540307966424217	0.70725	5.547713	0.999999998757797	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.5	5.5	0.81386	6.422000	0.73266	9.541000	0.80962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	17.264	0.86967	975	0.05339	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	67.43	39	chr8	6439052	.	G	A	67.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.19;DP=418;ExcessHet=0;FS=39.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=-0.826;SOR=5.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	9	0	1	0
chr8	6444505	6444505	T	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.T639A:p.D213E,MCPH1:NM_001172574:exon8:c.T783A:p.D261E,MCPH1:NM_001322042:exon8:c.T783A:p.D261E,MCPH1:NM_001322043:exon8:c.T777A:p.D259E,MCPH1:NM_001322045:exon8:c.T681A:p.D227E,MCPH1:NM_001363979:exon8:c.T783A:p.D261E,MCPH1:NM_001363980:exon8:c.T783A:p.D261E,MCPH1:NM_024596:exon8:c.T783A:p.D261E	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	1	1504	17	0	0	17	0.00561983	.	.	.	207566	Intellectual_disability|not_specified|not_provided|Microcephaly_1,_primary,_autosomal_recessive	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.033	0.00413134962085	0.0003	0.000199681	0.0006	0	0.0007	0	0	0.0006	0.0033	0.0015	0.0005304	82	154602	rs199700538	0.0005	0.0005	0.0004	0.0006	0.0059	0.0005	0.0005	0.0043	0.0038	8.961e-05	0.0011	0.0016	0	0	0.0059	0.0004	0.0009	0.0015	0.0005	0.0005	0.0005	0.0006	0.0017	0.0004	0.0004	0.0009	0.0007	7.215e-05	0	0.0013	0.0009	0	0	0.0068	0.0006	0.0005	0.0017	0.593	0.08261	T	1.0	0.01155	T	0.029	0.19866	B	0.039	0.23607	B	0.209793	0.03378	N	1.468830	1	0.08975	N	2.085	0.57729	M	2.7	0.12162	T	-0.69	0.25551	N	0.024	0.02366	-0.9732	0.36518	T	0.035	0.14943	T	10	0.0067489743	0.00153	T	0.004131	0.09900	T	0.033	0.08068	0.255	0.19533	0.272205846399	0.26826	0.13031991242283092	0.12956	.	.	0.267215013504	0.05780	T	0.102983	0.41121	T	-0.688158	0.00043	T	-0.801801	0.01858	T	0.028826725556393	0.01811	T	.	.	.	0.03121103	0.02920	0.024096226	0.00425	0.03121103	0.02919	0.024096226	0.00425	-3.912	0.22482	T	.	.	0.140	0.43130	B	.;.;.	.;.;.	-0.665697	0.01402	0.082	0.88018620406416404	0.17654	0.02613	0.07191	N	AEFDBI	0.035837	0.04678	N	-1.11324266808187	0.06406	0.2948067	-1.26429075845513	0.04923	0.2333735	0.999452915628429	0.39788	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.12	-6.11	0.01950	-1.577000	0.02231	-6.592000	0.01357	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.751000	0.35822	0.2522:0.35:0.1368:0.2609	1.243	0.01848	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.012195	0.000000	0.05	1208.43	125	chr8	6444505	.	T	A	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=455;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=-1.247;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1196	9	0	1	0
chr8	6445112	6445112	G	A	exonic	MCPH1	.	nonsynonymous SNV	MCPH1:NM_001172575:exon7:c.G1246A:p.V416I,MCPH1:NM_001172574:exon8:c.G1390A:p.V464I,MCPH1:NM_001322042:exon8:c.G1390A:p.V464I,MCPH1:NM_001322043:exon8:c.G1384A:p.V462I,MCPH1:NM_001322045:exon8:c.G1288A:p.V430I,MCPH1:NM_001363979:exon8:c.G1390A:p.V464I,MCPH1:NM_001363980:exon8:c.G1390A:p.V464I,MCPH1:NM_024596:exon8:c.G1390A:p.V464I	Microcephaly 1, primary, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	899936	Microcephaly_1,_primary,_autosomal_recessive|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009617,MedGen:C1855081,OMIM:251200,Orphanet:2512,Orphanet:52183|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.006	0.00274249407825	.	0.00159744	0.0004	0	8.645e-05	0.0002	0	0	0.0022	0.0024	0.0003428	53	154602	rs531526435	0.0002	0.0002	0.0001	0.0002	0.0025	0.0002	0.0002	0.0023	0.0021	5.974e-05	0	0	0.0002	0	0.0003	1.349e-05	0.0002	0.0025	0.0001	0.0001	0.0001	0.0001	0.0027	6.509e-05	5.321e-05	0.0016	0.0013	4.812e-05	0	6.537e-05	0	0	0	0	0	0	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.823533	0.09160	N	0.922363	1	0.08975	N	0.57	0.15267	N	3.19	0.07353	T	0.27	0.04306	N	0.043	0.01658	-0.9228	0.45168	T	0.008	0.02926	T	10	0.0034584403	0.00061	T	0.002742	0.05665	T	0.006	0.00375	0.143	0.04650	0.255777322467	0.25185	0.04598565669642853	0.04542	.	.	0.235667839646	0.02414	T	0.05405	0.29613	T	-0.746068	0.00019	T	-0.850309	0.00955	T	0.0100663501184015	0.00135	T	.	.	.	0.017316908	0.00263	0.017646225	0.00036	0.017316908	0.00263	0.017646225	0.00036	-3.513	0.16614	T	.	.	0.071	0.04847	B	.;.;.	.;.;.	-0.758350	0.01191	0.058	0.25403568315035979	0.01169	0.00324	0.01698	N	AEFBI	0.011558	0.00105	N	-1.64797043777782	0.01044	0.04526822	-1.64718870794519	0.01390	0.06282937	0.978832305703481	0.29963	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-4.88	0.02884	-0.942000	0.04031	-0.202000	0.10935	-1.654000	0.00822	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.2088:0.5175:0.1571:0.1166	4.098	0.09475	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2346.43	34	chr8	6445112	.	G	A	2346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=542;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.73;SOR=0.658	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr8	6514777	6514777	G	A	exonic	ANGPT2	.	nonsynonymous SNV	ANGPT2:NM_001118888:exon5:c.C776T:p.A259V,ANGPT2:NM_001118887:exon6:c.C929T:p.A310V,ANGPT2:NM_001147:exon6:c.C932T:p.A311V	.	434	1085	3	0	0	3	0.00138058	0.0020	0.072	.	711600	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.188	.	0.0030	0.00199681	0.0048	0.0004	0.0006	0	0.0038	0.0052	0.0055	0.0121	0.0045795	708	154602	rs145141058	0.0040	0.0040	0.0036	0.0044	0.0126	0.0039	0.0039	0.0120	0.0117	0.0003	0.0006	0.0048	7.558e-05	0.0046	0.0016	0.0037	0.0034	0.0126	0.0027	0.0027	0.0025	0.0030	0.0083	0.0025	0.0024	0.0063	0.0056	0.0007	0	0.0018	0.0035	0	0.0042	0	0.0038	0.0019	0.0083	1.0	0.00964	T	1.0	0.01155	T	0.027	0.19556	B	0.007	0.14941	B	0.000000	0.84330	D	0.049957	1	0.81001	D	-1.05	0.01069	N	-0.17	0.65563	T	1.73	0.00652	N	0.442	0.48134	-0.9230	0.45141	T	0.054	0.22921	T	10	0.012324214	0.00265	T	.	.	.	0.188	0.46444	.	.	0.665734656745	0.66292	0.6904965237364573	0.68989	0.253413253526	0.27906	0.442052185535	0.30858	T	0.093285	0.39180	T	-0.390887	0.02655	T	-0.32387	0.42148	T	0.02123464080639	0.00825	T	0.904909	0.66542	D	0.2685261	0.49924	0.12397222	0.29888	0.2685261	0.49924	0.12397222	0.29887	-4.246	0.27768	T	.	.	0.125	0.33891	B	.;.;.;.	.;.;.;.	2.264771	0.28940	17.96	0.66966079006661661	0.08214	0.97755	0.76898	D	AEFBI	0.911838	0.87165	D	-0.465373785404589	0.23222	1.245512	-0.171558742133226	0.32588	1.855526	0.999224613154397	0.38808	0.706548	0.73137	0	0.601575	0.49859	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	6.745000	0.74658	11.721000	0.94817	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0859:0.0:0.9141:0.0	10.740	0.45346	975	0.05339	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;.;.;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1009.43	41	chr8	6514777	.	G	A	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.126;DP=440;ExcessHet=0;FS=0.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.806;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr8	6825326	6825326	C	G	exonic	XKR5	.	nonsynonymous SNV	XKR5:NM_207411:exon3:c.G266C:p.S89T	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.000599042	0.0014	0.0004	0.0009	0	0.0003	0.0023	0	0.0003	0.0008279	128	154602	rs201724060	0.0012	0.0012	0.0012	0.0012	0.0016	0.0011	0.0011	0.0013	0.0013	0.0003	0.0005	7.885e-05	0	0.0002	0.0016	0.0014	0.0011	0.0004	0.0012	0.0012	0.0015	0.0010	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0.0003	0	0	0.0034	0.0020	0.0019	0	.	.	.	0.327	0.18732	T	0.002	0.09854	B	0.005	0.11217	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	0.0104478	0.00232	T	.	.	.	.	.	.	.	0.548400779561	0.54496	0.2500569914261264	0.24919	.	.	0.308889627457	0.11739	T	0.01168	0.10383	T	-0.472705	0.00818	T	-0.465014	0.26055	T	.	.	.	0.161484	0.01457	T	0.039555587	0.05482	0.08178392	0.18613	0.039555587	0.05482	0.08178392	0.18613	-3.684	0.19082	T	.	.	0.076	0.06069	B	.	.	0.194675	0.05804	2.245	0.41745482980808823	0.03032	0.00455	0.02200	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.980973224446877	0.30201	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.058706	0.01089	0	0.124705	0.25127	4.67	0.017	0.13433	0.239000	0.17800	0.864000	0.22254	-0.107000	0.15377	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1297:0.2761:0.5942:0.0	6.125	0.19391	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001520	0.005155	0.001359	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	823.43	33	chr8	6825326	.	C	G	823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.737;DP=363;ExcessHet=0;FS=4.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.15;ReadPosRankSum=-1.046;SOR=0.25	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1283	9	0	1	0
chr8	7332757	7332757	T	G	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.T371G:p.M124R,USP17L1:NM_001256873:exon1:c.T371G:p.M124R	.	600	921	1	0	0	1	0.000542594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	.	.	.	2.195	0.61839	M	.	.	.	.	.	.	0.594	0.61341	.	.	.	.	.	.	.	0.55083126	0.64246	D	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.29924862757181986	0.29837	.	.	0.59654968977	0.52417	T	0.022424	0.17293	T	0.0645144	0.60177	T	-0.145106	0.59673	T	.	.	.	0.860814	0.55431	D	0.3600071	0.57836	0.45657915	0.68415	0.3600071	0.57836	0.45657915	0.68415	-10.847	0.78812	D	.	.	0.167	0.36869	B	.	.	2.175218	0.27721	17.56	0.32179885857607665	0.01851	0.02274	0.06564	N	AEFI	.	.	.	.	.	.	.	.	.	1.62083320461133E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0436289	0.02737	0.781	-1.56	0.08080	0.844000	0.27307	-3.589000	0.02674	0.303000	0.18983	0.063000	0.21864	0.000000	0.08366	0.031000	0.13245	0.0:0.4971:0.0:0.5029	4.478	0.11167	994	0.00715	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1000.43	38	chr8	7332757	.	T	G	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.97;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.43;MQRankSum=-0.956;QD=25.01;ReadPosRankSum=1.08;SOR=1.609	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr8	7333620	7333620	C	T	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1234T:p.H412Y,USP17L1:NM_001256873:exon1:c.C1234T:p.H412Y	.	436	1066	17	3	0	23	0.0106729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0079	0.0035	0.0062	0	0.0054	0.0120	0.0101	0.0035	0.001191	31	26028	rs201302491	0.0058	0.0060	0.0056	0.0059	0.0307	0.0057	0.0056	0.0264	0.0247	0.0025	0.0034	0.0111	5.18e-05	0.0069	0.0307	0.0059	0.0070	0.0041	0.0049	0.0048	0.0052	0.0045	0.0063	0.0046	0.0044	0.0058	0.0056	0.0021	0	0.0035	0.0116	0	0.0044	0.0368	0.0063	0.0074	0.0034	.	.	.	0.436	0.13480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.204	0.22614	.	.	.	.	.	.	.	0.004554063	0.00094	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.01658367185519768	0.01613	.	.	0.545712947845	0.45253	T	0.023156	0.17727	T	-0.505776	0.00530	T	-0.496121	0.22751	T	.	.	.	0.541546	0.18382	T	0.12105584	0.28473	0.1154537	0.27869	0.12105584	0.28473	0.1154537	0.27869	-4.358	0.28982	T	.	.	0.071	0.04041	B	.	.	0.457832	0.08275	5.021	0.67168932098771628	0.08274	0.00210	0.01196	N	AEFI	.	.	.	.	.	.	.	.	.	1.09537333666636E-6	0.01202	0.074636	0.01641	0	0.063388	0.01293	0	0.063197	0.01477	0	0.101684	0.03063	0	0.0443366	0.03230	.	.	.	0.893000	0.27970	-0.106000	0.11884	0.055000	0.17525	0.008000	0.17931	0.000000	0.08366	0.011000	0.09372	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1671.43	38	chr8	7333620	.	C	T	1671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.365;DP=476;ExcessHet=0;FS=8.073;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.04;MQRankSum=-1.674;QD=13.48;ReadPosRankSum=0.888;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1422	9	0	1	0
chr8	7358313	7358313	C	G	exonic	ZNF705G	.	nonsynonymous SNV	ZNF705G:NM_001164457:exon7:c.G566C:p.R189P	.	510	986	26	0	0	26	0.013013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.000308078436627	0.0002	0.000798722	0.0022	0.0001	0.0007	0.0001	0	0.0017	0	0.0084	0.0017788	275	154602	rs368734373	0.0012	0.0013	0.0009	0.0015	0.0126	0.0012	0.0011	0.0099	0.0089	0.0003	0.0007	0.0137	2.52e-05	0	0.0126	0.0005	0.0022	0.0077	0.0010	0.0011	0.0010	0.0011	0.0057	0.0009	0.0008	0.0040	0.0034	0.0001	0	0.0004	0.0139	0	0	0.0172	0.0009	0.0014	0.0057	0.041	0.41915	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.49	0.72568	M	3.18	0.07478	T	-3.35	0.66436	D	0.267	0.30233	-1.0523	0.13763	T	0.044	0.19029	T	7	0.016572624	0.00350	T	3.08E-4	0.00027	T	0.077	0.22490	.	.	0.194818534648	0.19098	0.0716437379401887	0.07101	8.38689937476E-4	0.00070	0.519137859344	0.41504	T	0.102249	0.40979	T	-0.599116	0.00148	T	-0.62908	0.10484	T	0.0398025031288163	0.03654	T	0.0150385	0.00084	T	0.52510643	0.68552	0.44012263	0.67341	0.52510643	0.68553	0.44012263	0.67341	-8.71	0.65811	D	.	.	0.907	0.83217	P	.	.	2.121769	0.27008	17.32	0.9403768728901275	0.24156	0.00620	0.02740	N	AEFDBI	0.118989	0.23244	N	-0.752658196188609	0.14560	0.7263734	-1.03829226174489	0.08952	0.4427836	1.78956100016098E-6	0.01202	0.487112	0.14033	0	0.48864	0.07623	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.05	0.109	0.13884	-4.227000	0.00308	-20.000000	0.00162	0.233000	0.18164	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.774:0.0:0.226	5.282	0.14991	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1755.43	42	chr8	7358313	.	C	G	1755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.996;DP=760;ExcessHet=0;FS=1.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=1.18;QD=4.69;ReadPosRankSum=0.179;SOR=0.74	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,102,1530	9	0	1	0
chr8	7823381	7823381	C	A	splicing	DEFB105A;DEFB105B	NM_152250:exon2:c.112+1G>T;NM_001040703:exon2:c.112+1G>T	.	.	.	434	1078	10	0	0	10	0.00461681	1.0000	0.738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0	0.0003	0.0005	0	0.0005	0.0011	0.0136	0.0001537	4	26028	rs777027537	0.0006	0.0011	0.0004	0.0008	0.0081	0.0006	0.0006	0.0076	0.0074	0.0001	7.372e-05	0.0004	0.0001	0	0.0030	0.0001	0.0010	0.0081	0.0005	0.0008	0.0003	0.0008	0.0093	0.0004	0.0004	0.0071	0.0063	9.651e-05	0	0.0005	0.0003	0	0	0.0068	0.0003	0.0005	0.0093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0302802	0.55761	T	-0.194281	0.55188	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.765676	0.77093	26.6	0.97697661142478343	0.35418	0.69076	0.34046	D	AEFI	.	.	.	0.705373147454765	0.79984	7.194922	0.430132695400055	0.63450	4.57907	7.62625928261573E-5	0.04552	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.888603	0.55606	3.28	3.28	0.36691	2.552000	0.45490	6.466000	0.55704	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	0.0:1.0:0.0:0.0	10.291	0.42777	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	50.43	34	chr8	7823381	.	C	A	50.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=353;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.39;MQRankSum=-1.428;QD=1.01;ReadPosRankSum=-0.954;SOR=1.056	GT:AD:DP:GQ:PL	0/1:42,8:50:62:62,0,980	9	0	1	0
chr8	7973120	7973120	G	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C134G:p.S45C	.	1324	165	2	31	0	64	0.162437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147564	0.0321	0.0224	0	0.3333	0.7143	0.0352	0	0.2838	0.0124837	1930	154602	rs199984969	0.0049	0.0079	0.0034	0.0063	0.0097	0.0045	0.0043	0.0086	0.0082	0.0006	0.0059	0.0088	0.0043	0.0071	0	0.0097	0.0027	0.0043	0.0002	0.0027	0.0002	0.0001	0.0002	4.188e-05	2.232e-05	4.489e-05	2.315e-05	0.0002	.	0	0	0	0	0	0	0	0	.	.	.	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.0018361509	0.00025	T	.	.	.	.	.	.	.	.	.	0.03465126907105807	0.03413	.	.	0.502864360809	0.39227	T	0.110821	0.42583	T	-0.515761	0.00466	T	-0.489946	0.23397	T	.	.	.	0.480052	0.14488	T	0.07720802	0.17510	0.159	0.37030	0.07720802	0.17510	0.159	0.37029	-5.09	0.37802	T	.	.	0.086	0.10449	B	.	.	1.202716	0.15947	12.22	0.53259318864439986	0.04905	0.01998	0.06024	N	AEFI	.	.	.	.	.	.	.	.	.	1.32385288154829E-4	0.05486	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.51611	0.39628	0.45	0.45	0.15835	-0.635000	0.05568	-0.101000	0.11941	-0.704000	0.03997	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	1.0E-4:0.0:0.9999:0.0	6.846	0.23171	988	0.01987	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	41.67	.	chr8	7973120	.	G	C	41.67	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=40;QD=20.83;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	2	1	0	7
chr8	7973150	7973150	G	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C104G:p.T35S	.	1202	314	3	3	0	9	0.0141287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0006	0	0	0.0385	0.0143	0	0.0029	3.84e-05	1	26028	rs201893552	0.0024	0.0066	0.0015	0.0034	0.0081	0.0022	0.0021	0.0054	0.0051	0.0001	0.0004	0.0022	0.0015	0.0018	0.0081	0.0061	0.0006	0.0004	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	0.992	0.02353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0058850944	0.00132	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.035133943828997025	0.03460	.	.	0.482345283031	0.36380	T	0.002032	0.01442	T	-0.525454	0.00409	T	-0.557634	0.16599	T	.	.	.	0.456254	0.13085	T	0.07411694	0.16611	0.100783765	0.24109	0.07411694	0.16611	0.100783765	0.24109	-2.561	0.06212	T	.	.	0.086	0.10594	B	.	.	-0.468485	0.01970	0.171	0.42461884011545525	0.03132	0.00181	0.01060	N	AEFI	.	.	.	.	.	.	.	.	.	1.19546244847725E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	0.45	0.15835	-0.980000	0.03880	-2.601000	0.03561	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	81.96	.	chr8	7973150	.	G	C	81.96	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=40;QD=28.8;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	3	1	0	6
chr8	7973153	7973153	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G101A:p.R34Q	.	1211	305	3	3	0	9	0.0145396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	0.0042	0.0037	0.0085	0	0.0385	0.0133	0	0.0026	0.0012679	33	26028	rs199927285	0.0039	0.0068	0.0023	0.0054	0.0110	0.0036	0.0034	0.0076	0.0072	0.0010	0.0033	0.0045	0.0023	0.0028	0.0110	0.0084	0.0019	0.0006	0.0013	0.0025	0.0011	0.0016	0.0014	0.0009	0.0008	0.0010	0.0009	0.0014	.	0	0	0	0	0	0	0	0	.	.	.	0.599	0.07972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.09354	N	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.003292799	0.00057	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.044797436758796445	0.04423	.	.	0.456138342619	0.32783	T	0.007363	0.06771	T	-0.530067	0.00384	T	-0.539418	0.18352	T	.	.	.	0.722728	0.33613	T	0.05372387	0.10207	0.084068626	0.19314	0.05372387	0.10207	0.084068626	0.19313	-3.473	0.16056	T	.	.	0.075	0.05491	B	.	.	0.127486	0.05237	1.742	0.56585291076186361	0.05584	0.00154	0.00927	N	AEFI	.	.	.	.	.	.	.	.	.	1.14864141646167E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	0.45	0.15835	-0.181000	0.09734	-8.990000	0.00883	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	81.96	.	chr8	7973153	.	C	T	81.96	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=40;QD=33.09;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	3	1	0	6
chr8	7973169	7973169	A	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.T85G:p.F29V	.	1206	310	3	3	0	9	0.0143084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0009	0	0.0022	0	0.0090	0	0.0023	3.84e-05	1	26028	rs200849376	0.0048	0.0098	0.0026	0.0069	0.0192	0.0044	0.0043	0.0102	0.0098	0.0001	0.0027	0.0062	0.0033	0.0029	0.0192	0.0112	0.0021	0.0012	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	0.521	0.10429	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.067	0.03956	.	.	.	.	.	.	.	0.006848842	0.00156	T	.	.	.	.	.	.	.	0.173771789658	0.16945	0.05122364867799584	0.05064	.	.	0.517447173595	0.41267	T	0.003077	0.02473	T	-0.471819	0.00828	T	-0.469526	0.25567	T	.	.	.	0.677032	0.28590	T	0.11148907	0.26346	0.20951682	0.45299	0.11148907	0.26346	0.20951682	0.45298	-2.322	0.04677	T	.	.	0.082	0.08948	B	.	.	0.443033	0.08133	4.862	0.16805105425743158	0.00465	0.00150	0.00907	N	AEFI	.	.	.	.	.	.	.	.	.	1.42799992388748E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	-0.9	0.10008	-0.402000	0.07284	-0.250000	0.10515	-0.754000	0.03558	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6667	134.13	.	chr8	7973169	.	A	C	134.13	.	AC=4;AF=0.667;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=42.05;QD=33.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	1	2	0	7
chr8	7973183	7973183	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199970737	2.505e-05	6.653e-05	3.403e-05	1.794e-05	4.107e-05	9.33e-06	6.32e-06	1.359e-05	7.46e-06	3.626e-05	0	0	0	0	0	4.107e-05	0	0	0	0.0001	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	0.489	0.11586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.086	0.06322	.	.	.	.	.	.	.	0.079891175	0.12903	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.061290013221019346	0.06069	.	.	0.446997404099	0.31534	T	0.007284	0.06695	T	-0.188493	0.22479	T	-0.508533	0.21466	T	.	.	.	0.754325	0.37688	T	0.10293352	0.24325	0.1386967	0.33115	0.10293352	0.24325	0.1386967	0.33115	-3.232	0.12876	T	.	.	0.078	0.07036	B	.	.	0.775522	0.11457	8.061	0.61939622589647725	0.06835	0.00666	0.02877	N	AEFI	.	.	.	.	.	.	.	.	.	1.12190637154212E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	0.45	0.15835	-0.223000	0.09182	-5.981000	0.01533	0.270000	0.18506	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	81.37	.	chr8	7973183	.	C	T	81.37	.	AC=2;AF=0.25;AN=8;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=44;QD=29.74;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	3	1	0	6
chr8	8318761	8318761	C	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon6:c.G3614T:p.R1205L,PRAG1:NM_001369759:exon6:c.G3614T:p.R1205L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0016	0.00299521	0.0013	0.0132	0.0013	0	0	9.561e-05	0.0052	0	0.0007244	112	154602	rs200355456	0.0003	0.0003	0.0004	0.0003	0.0087	0.0003	0.0003	0.0078	0.0075	0.0087	0.0008	4.003e-05	5.19e-05	0	0.0030	7.031e-05	0.0010	1.203e-05	0.0023	0.0023	0.0024	0.0022	0.0080	0.0021	0.0020	0.0073	0.0070	0.0080	0.0011	0.0007	0	0	0	0	7.401e-05	0.0019	0	.	.	.	0.284	0.21411	T	.	.	.	.	.	.	0.144945	0.02915	N	1.551570	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.1	0.10056	-1.0350	0.18857	T	0.067	0.27537	T	10	0.003072679	0.00051	T	.	.	.	.	.	.	.	0.165133752707	0.16062	0.3212918260399961	0.32042	.	.	0.479565560818	0.35996	T	0.010385	0.09385	T	-0.546302	0.00307	T	-0.549683	0.17356	T	0.00477903671760561	0.00051	T	0.507849	0.16117	T	0.1760468	0.38497	0.13790537	0.32950	0.1760468	0.38496	0.13790537	0.32949	-5.396	0.40881	T	.	.	0.099	0.18206	B	.;.	.;.	2.165111	0.27584	17.51	0.93627650409773389	0.23499	0.31739	0.24413	N	AEFDBHCI	0.083850	0.16989	N	-0.803739860643708	0.13215	0.6494229	-0.728389511107342	0.16256	0.8590591	0.999999985418597	0.74766	0.631981	0.41245	0	0.577304	0.33150	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.48	4.58	0.56077	0.952000	0.28747	1.291000	0.25412	0.433000	0.20966	0.001000	0.13787	0.001000	0.17328	0.475000	0.28453	0.0:0.668:0.1745:0.1575	5.831	0.17837	930	0.16408	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009694	0.031915	0.012363	0.008772	0.000000	0.000000	0.006211	0.003817	0.05	815.43	33	chr8	8318761	.	C	A	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.01;DP=355;ExcessHet=0;FS=1.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=-0.709;SOR=1.308	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1220	9	0	1	0
chr8	8376610	8376610	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1799A:p.R600Q,PRAG1:NM_001369759:exon3:c.G1799A:p.R600Q	.	416	1096	9	1	0	11	0.00499319	.	.	.	3378792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00942722869921	0.0006	0.000199681	0.0005	0.0003	0.0007	0	0	0.0006	0.0024	0.0002	0.0004398	68	154602	rs199706360	0.0004	0.0004	0.0004	0.0004	0.0241	0.0004	0.0004	0.0208	0.0196	0.0004	0.0007	0.0006	2.529e-05	3.812e-05	0.0241	0.0003	0.0010	0.0005	0.0006	0.0006	0.0007	0.0005	0.0014	0.0005	0.0005	0.0007	0.0006	0.0002	0	0.0011	0.0014	0	0	0.0204	0.0006	0.0028	0.0014	.	.	.	0.484	0.11760	T	.	.	.	.	.	.	0.588319	0.11074	N	0.790413	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.077	0.07262	-1.0387	0.17709	T	0.076	0.30584	T	10	0.0119178295	0.00258	T	0.009427	0.24716	T	.	.	.	.	0.0482279557977	0.04254	0.15685933987224282	0.15606	.	.	0.234855204821	0.02346	T	0.007386	0.06799	T	-0.52721	0.00399	T	-0.618023	0.11340	T	0.0101889614287345	0.00138	T	0.687731	0.29668	T	0.0672992	0.14560	0.03747112	0.03407	0.0672992	0.14560	0.03747112	0.03407	-3.551	0.17153	T	.	.	0.075	0.05317	B	.;.	.;.	0.498558	0.08677	5.448	0.97472187580351977	0.34141	0.11273	0.16524	N	AEFDBHCI	0.042692	0.06656	N	-0.973298334379685	0.09177	0.4332447	-0.978407885282487	0.10270	0.516215	0.999998972464268	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.04	0.946	0.18674	0.056000	0.14136	-2.838000	0.03310	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.3171:0.1847:0.4982	4.117	0.09555	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013595	0.000000	0.017663	0.023392	0.050000	0.025862	0.000000	0.011364	0.05	1350.43	88	chr8	8376610	.	C	T	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=1.95;SOR=0.747	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr8	8377394	8377394	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1015A:p.D339N,PRAG1:NM_001369759:exon3:c.G1015A:p.D339N	.	399	1116	6	1	0	8	0.00357143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0125104443522	0.0059	0.00199681	0.0055	0.0018	0.0021	0.0001	0.0089	0.0074	0.0045	0.0036	0.0048447	749	154602	rs201521501	0.0078	0.0078	0.0080	0.0077	0.0089	0.0077	0.0077	0.0087	0.0087	0.0011	0.0022	0.0097	5.057e-05	0.0087	0.0021	0.0089	0.0071	0.0028	0.0050	0.0050	0.0050	0.0050	0.0075	0.0047	0.0046	0.0070	0.0068	0.0015	0	0.0018	0.0086	0.0002	0.0103	0	0.0075	0.0038	0.0023	.	.	.	0.706	0.05602	T	0.999	0.77913	D	0.954	0.69447	D	0.001437	0.39044	N	0.165039	0.879059	0.35713	D	.	.	.	.	.	.	.	.	.	0.496	0.52918	-0.5453	0.66963	T	0.227	0.59233	T	10	0.0080578625	0.00183	T	0.01251	0.31146	T	.	.	.	.	0.152612264143	0.14878	0.20885933061810766	0.20801	.	.	0.431771397591	0.29450	T	0.025059	0.18811	T	-0.555119	0.00272	T	-0.559135	0.16459	T	0.0221336370457887	0.00924	T	0.79802	0.44234	T	0.06739918	0.14591	0.07839511	0.17554	0.06739918	0.14591	0.07839511	0.17553	-5.935	0.45733	T	.	.	0.213	0.44148	B	.;.	.;.	3.122175	0.42153	21.5	0.99867904873152369	0.94547	0.41551	0.26682	N	AEFDBCI	0.078404	0.15817	N	-0.00191428558426515	0.41769	2.504362	-0.141461961682113	0.33739	1.933098	0.999999998656664	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	4.34	4.34	0.51267	1.059000	0.30127	4.713000	0.44466	0.598000	0.34611	0.306000	0.25378	0.999000	0.35428	0.004000	0.06068	0.0:1.0:0.0:0.0	15.177	0.72607	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.002924	0.000000	0.000000	0.006250	0.003788	0.05	1667.43	45	chr8	8377394	.	C	T	1667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.129;DP=546;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.225;SOR=0.682	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr8	8377787	8377787	G	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C622T:p.R208C,PRAG1:NM_001369759:exon3:c.C622T:p.R208C	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.00618618656676	0.0047	0.000998403	0.0035	0.0012	0.0010	0	0.0076	0.0050	0.0033	0.0005	0.0037063	573	154602	rs180898867	0.0054	0.0054	0.0056	0.0053	0.0061	0.0053	0.0053	0.0060	0.0059	0.0007	0.0015	0.0097	2.519e-05	0.0081	0.0009	0.0061	0.0052	0.0005	0.0039	0.0039	0.0037	0.0041	0.0055	0.0036	0.0035	0.0051	0.0049	0.0011	0	0.0014	0.0086	0.0002	0.0101	0	0.0055	0.0038	0.0004	.	.	.	0.029	0.54541	D	0.146	0.27821	B	0.024	0.20255	B	0.083870	0.20729	N	0.321541	0.980191	0.39641	D	.	.	.	.	.	.	.	.	.	0.343	0.39457	-0.9817	0.34608	T	0.077	0.30767	T	10	0.0064563453	0.00146	T	0.006186	0.16200	T	.	.	.	.	0.307332253619	0.30352	0.1319628656894759	0.13121	.	.	0.257686942816	0.04620	T	0.022785	0.17508	T	-0.167648	0.25590	T	-0.00662597	0.69905	D	0.016472565910182	0.00412	T	0.869413	0.57379	D	0.08104805	0.18604	0.060116924	0.11395	0.08104805	0.18603	0.060116924	0.11395	-5.508	0.41942	T	.	.	0.135	0.29394	B	.;.	.;.	4.243043	0.64342	24.7	0.99872106881281586	0.94989	0.73101	0.35762	D	AEFDBCI	0.241724	0.36329	N	-0.171502809079798	0.34324	1.957826	-0.0401645495545533	0.37920	2.226788	0.99961848429464	0.40981	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	3.25	0.36363	3.243000	0.51090	5.698000	0.49367	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.479000	0.28543	0.0968:0.0:0.5363:0.3669	5.315	0.15160	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	2282.43	45	chr8	8377787	.	G	A	2282.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=595;ExcessHet=0;FS=1.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.811;SOR=0.56	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr8	8703108	8703108	-	CAAGCC	exonic	CLDN23	.	nonframeshift insertion	CLDN23:NM_194284:exon1:c.710_711insCAAGCC:p.K244_V245insPK	.	0	222	4	0	0	4	0.00892857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	.	0.0064	0.026	0.0037	0	0	0.0020	0.0130	0.0135	0.001191	31	26028	rs57083604	0.0030	0.0031	0.0027	0.0032	0.0260	0.0029	0.0029	0.0245	0.0239	0.0260	0.0023	0.0049	2.809e-05	0.0003	0.0064	0.0016	0.0047	0.0138	0.0091	0.0092	0.0092	0.0090	0.0272	0.0087	0.0086	0.0259	0.0254	0.0272	0	0.0039	0.0058	0.0002	0.0002	0.0034	0.0017	0.0052	0.0098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1349.39	80	chr8	8703108	.	G	GCAAGCC	1349.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=436;ExcessHet=0;FS=0.847;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.87;ReadPosRankSum=-0.883;SOR=0.628	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1031	9	0	1	0
chr8	9088538	9088538	G	A	exonic	ERI1	.	nonsynonymous SNV	ERI1:NM_001354638:exon7:c.G886A:p.G296R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0501198	.	.	.	.	.	.	.	.	0.0175196	456	26028	rs80164148	0	0.0003	0	0	.	0	0	.	.	.	.	.	.	0	.	0	.	.	0.0088	0.0089	0.0080	0.0096	0.1829	0.0084	0.0082	0.1732	0.1693	0.0013	0	0.0026	0.0009	0.1829	0.0008	0	0.0027	0.0109	0.0162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	37.6	.	chr8	9088538	.	G	A	37.6	.	AC=2;AF=0.167;AN=12;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.8;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	5	1	0	4
chr8	10608031	10608031	C	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G6067T:p.V2023L	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3407602	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00099139563823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.723e-06	2.75e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.342	0.17910	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.71	0.04046	T	-0.07	0.08033	N	0.051	0.02272	-0.9573	0.39681	T	0.006	0.01870	T	9	0.0728389	0.10926	T	9.91E-4	0.01050	T	0.045	0.12272	0.298	0.26362	0.0401082797425	0.02173	0.004064410653569715	0.00381	.	.	0.257316917181	0.04577	T	.	.	.	-0.337748	0.05545	T	-0.722928	0.04656	T	0.176246064059569	0.18995	T	0.315868	0.06264	T	0.053177536	0.10025	0.09520061	0.22567	0.053177536	0.10024	0.09520061	0.22566	-7.52	0.57751	D	.	.	0.134	0.29144	B	.	.	0.072920	0.04809	1.416	0.68349518625760475	0.08631	0.04236	0.09758	N	AEFBI	0.022493	0.01131	N	-1.16133278210067	0.05595	0.2555161	-1.25145845776475	0.05109	0.2426846	7.96783097289827E-5	0.04552	0.580535	0.33130	0	0.573888	0.26702	0	0.547309	0.15389	0	0.604944	0.38103	0	.	.	1.18	1.18	0.20058	0.414000	0.20885	-0.130000	0.11629	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	8.293	0.31132	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	131	chr8	10608031	.	C	A	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.152;DP=1172;ExcessHet=0;FS=15.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=0.057;SOR=1.28	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	9	0	1	0
chr8	10608139	10608139	G	A	exonic	RP1L1	.	stopgain	RP1L1:NM_178857:exon4:c.C5959T:p.Q1987X	Occult macular dystrophy, Autosomal dominant	36	1470	16	0	0	16	0.00541272	.	.	.	413765	Retinitis_pigmentosa_88|Occult_macular_dystrophy|Retinal_dystrophy|Autosomal_recessive_retinitis_pigmentosa|not_provided	MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C0339526|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0020	0.000199681	0.0016	0.0004	0.0021	0	0	0.0021	0.0044	0.0010	0.0013907	215	154602	rs200846354	0.0016	0.0016	0.0016	0.0016	0.0061	0.0016	0.0015	0.0045	0.0039	0.0002	0.0020	0.0083	0	0	0.0061	0.0016	0.0021	0.0014	0.0012	0.0012	0.0014	0.0010	0.0017	0.0010	0.0010	0.0014	0.0013	0.0002	0	0.0015	0.0078	0	0	0.0070	0.0017	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.04	0.01347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0154329	0.49502	T	0.198271	0.83033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.229082	0.94837	34	0.96607289166009569	0.30430	0.00995	0.03773	N	AEFBI	0.020352	0.00795	N	-0.114308574254207	0.36770	2.129882	-0.560111512649774	0.20537	1.106956	1.17323956392468E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.547309	0.15389	0	0.604944	0.38103	0	.	.	1.24	-0.38	0.11868	0.538000	0.22869	-0.850000	0.07182	0.254000	0.18348	0.001000	0.13787	0.000000	0.08366	0.007000	0.07825	0.0:0.2362:0.5281:0.2356	4.244	0.10112	795	0.45444	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.000000	0.000000	0.050000	0.008621	0.006098	0.003788	0.05	1651.43	131	chr8	10608139	.	G	A	1651.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.288;DP=1195;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.723;SOR=0.695	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	9	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4086.3	104	chr8	10609944	.	A	G	4086.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.723;DP=2045;ExcessHet=2.8389;FS=208.044;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=-0.301;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:175,0:175:0:.:.:0,0,2704:.	2	0	5	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	G	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:127,0:127:0:.:.:0,0,457:.	3	0	3	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	T	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:127,0:127:0:.:.:0,0,457:.	3	0	3	4
chr8	10609951	10609951	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4147C:p.G1383R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000999522392795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.332	0.18449	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.19	0.09965	N	0.119	0.10911	-0.9193	0.45648	T	0.008	0.02926	T	9	0.065942734	0.08972	T	0.001	0.01073	T	0.046	0.12618	0.093	0.01151	0.227934060464	0.22382	0.06617806944583952	0.06556	.	.	0.210635006428	0.00839	T	0.036921	0.24283	T	-0.370804	0.03554	T	-0.770411	0.02754	T	0.0663731578014028	0.08132	T	0.492651	0.15191	T	0.07411346	0.16608	0.08802469	0.20498	0.07411346	0.16608	0.08802469	0.20497	-5.685	0.43560	T	.	.	0.183	0.39714	B	.	.	0.083321	0.04887	1.473	0.68578143915361423	0.08701	0.03752	0.09057	N	AEFDBI	0.030360	0.03039	N	-1.14382275890809	0.05882	0.2693335	-1.22974974199479	0.05437	0.2590894	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	0.846000	0.27335	0.099000	0.14623	-0.342000	0.05666	0.004000	0.16614	0.001000	0.17328	0.003000	0.05239	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	676.43	251	chr8	10609951	.	C	G	676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.984;DP=2100;ExcessHet=0;FS=177.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.14;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:201,0:201:99:.:.:0,120,1800:.	9	0	1	0
chr8	10610079	10610079	-	CCTCTAACTGCACCCTCTTTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAAAGAGGGTGCAGTTAGAGG:p.E1340_G2392delinsGTKVIEGLQEKRVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	8.789e-06	6.041e-06	1.176e-05	5.369e-06	4.21e-06	3.05e-06	1.26e-06	8.5e-07	0	0	0.0001	0	0	0	5.369e-06	4.607e-05	0	1.663e-05	1.567e-05	1.612e-05	1.718e-05	8.941e-05	2.76e-06	1.03e-06	.	.	0	0	8.941e-05	0	0	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	38544.4	386	chr8	10610079	.	T	TCCTCTAACTGCACCCTCTTTTCTTGCAGCCCTTCTATTACTTTAGTCC	38544.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=3280;ExcessHet=0.3701;FS=2.475;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=-0.199;QD=23.56;ReadPosRankSum=2.69;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:380,0:380:99:.:.:0,120,1800:.	9	0	1	0
chr8	10610079	10610079	-	CCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG:p.E1340_G2392delinsGTKTEEGLQEEGVQLEGTKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0048	0.0023	0.0022	0.0047	0.0022	0.0021	0.0032	0.0027	0.0009	0.0019	0.0040	0	0.0042	0.0047	0.0023	0.0038	0.0006	0.0006	0.0011	0.0006	0.0006	0.0007	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0004	0.0010	0	0.0010	0	0.0007	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	38544.4	386	chr8	10610079	.	T	TCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCCCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	38544.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=3280;ExcessHet=0.3701;FS=2.475;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=-0.199;QD=23.56;ReadPosRankSum=2.69;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:380,0:380:99:.:.:0,120,1800:.	9	0	1	0
chr8	10610125	10610125	-	CCCCTCTAACTGCACCCCCTC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3972_3973insGAGGGGGTGCAGTTAGAGGGG:p.T1325_G2392delinsEGVQLEGTKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	43	1464	7	0	8	15	0.00238501	.	.	.	4008211	Occult_macular_dystrophy|Retinitis_pigmentosa_88	Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs776696463	0.0003	0.0009	0.0003	0.0003	0.0019	0.0003	0.0003	0.0010	0.0008	6.754e-05	0.0002	0.0008	0	0.0005	0.0019	0.0003	0.0004	0.0003	0.0007	0.0018	0.0007	0.0008	0.0011	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0007	0.0026	0	0.0002	0.0032	0.0011	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1809.39	358	chr8	10610125	.	T	TCCCCTCTAACTGCACCCCCTC	1809.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=2822;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.87;MQRankSum=-7.506;QD=7.6;ReadPosRankSum=2.63;SOR=0.871	GT:AD:DP:GQ:PL	0/0:384,0:384:99:0,120,1800	9	0	1	0
chr8	10610127	10610127	-	CTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	exonic	RP1L1	.	nonframeshift insertion	RP1L1:NM_178857:exon4:c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAG:p.E1324_G2392delinsGTKVIEGLQEERVQLEETKTEEGLQETKTEEGLQEEGVQLEETKETEGEGQQEEEAQLEEIEETGGEGLQEEGVQLEEVKEGPEGGLQGEALEEGLKEEGLPEEGSVHGQELSEASSPDGKGSQEDDPVQEEEAGRASASAEPCPAEGTEEPTEPPSHLSETDPSASERQSGSQLEPGLEKPPGATMMGQEHTQAQPTQGAAERSSSVACSAALDCDPIWVSVLLKKTEKAFLAHLASAVAELRARWGLQDNDLLDQMAAELQQDVAQRLQDSTKRELQKLQGRAGRMVLEPPREALTGELLLQTQQRRHRLRGLRNLSAFSERTLGLGPLSFTLEDEPALSTALGSQLGEEAEGEEFCPCEACVRKKVSPMSPKATMGATRGPIKEAFDLQQILQRKRGEHTDGEAAEVAPGKTHTDPTSTRTVQGAEGGLGPGLSQGPGVDEGEDGEGSQRLNRDKDPKLGEAEGDAMAQEREGKTHNSETSAGSELGEAEQEGEGISERGETGGQGSGHEDNLQGEAAAGGDQDPGQSDGAEGIEAPEAEGEAQPESEGVEAPEAEGDAQEAEGEAQPESEDVEAPEAEGEAQPESEDVETPEAEWEVQPESEGAEAPEAEKEAQPETESVEALETEGEDEPESEGAEAQEAEEAAQEAEGQTQPESEVIESQEAEEEAQPESEDVEALEVEVETQEAEGEAQPESEDVEAPEAEGEMQEAEEEAQPESDGVEAQPKSEGEEAQEVEGETQKTEGDAQPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQEAEGEAQPESEGVEAPEAEGEAQKAEGIEAPETEGEAQPESEGIEAPEAEGEAQPESEGVEAQDAEGEAQPESEGIEAQEAEEEAQPELEGVEAPEAEGEAQPESEGIEAPEAEGEAQPELEGVEAPEAEEEAQPEPEGVETPEAEGEAQPESEGETQGEKKGSPQVSLGDGQSEEASESSSPVPEDRPTPPPSPGGDTPHQRPGSQTGPSSSRASSWGNCWQKDSENDHVLGDTRSPDAKSTGTPHAERKATRMYPESSTSEQEEAPLGSRTPEQGASEGYDLQEDQALGSLAPTEAVGRADGFGQDDLDF*	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.992e-05	0.0001	0.0001	4.162e-05	0.0001	0	0	8.955e-05	0	0.0001	8.427e-05	0	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	8.518e-05	0.0002	0.0001	7.709e-05	0	7.924e-05	0	0	0	0	0.0003	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	87613.7	417	chr8	10610127	.	T	TCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	87613.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.026;DP=3602;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=59.68;MQRankSum=-0.183;QD=29.11;ReadPosRankSum=-3.299;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:290:99:.:.:15348,13829,13293:.	9	0	1	0
chr8	10610143	10610143	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G3955A:p.A1319T	Occult macular dystrophy, Autosomal dominant	125	1367	29	1	0	31	0.0112116	.	.	YES	303845	not_specified|Occult_macular_dystrophy|Retinitis_pigmentosa_88|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0546	0.0564	0.0301	0.0038	0.0548	0.0765	0.0611	0.0425	0.0102582	267	26028	rs73201156	0.0058	0.0064	0.0057	0.0058	0.0120	0.0056	0.0056	0.0109	0.0104	0.0120	0.0042	0.0067	0.0001	0.0044	0.0068	0.0056	0.0053	0.0091	0.0052	0.0072	0.0047	0.0056	0.0110	0.0047	0.0046	0.0093	0.0090	0.0104	0	0.0026	0	0	0.0020	0	0.0020	0.0020	0.0110	0.482	0.08188	T	0.583	0.08419	T	.	.	.	.	.	.	0.137998	0.02862	U	2.034630	1	0.08975	N	.	.	.	3.6	0.04494	T	0.0	0.07008	N	0.026	0.00527	-0.9425	0.42218	T	0.013	0.04890	T	10	0.0030745268	0.00051	T	.	.	.	0.014	0.01968	.	.	.	.	0.05010190152371814	0.04953	.	.	0.202675610781	0.00539	T	.	.	.	-0.753027	0.00017	T	-0.838852	0.01116	T	0.000374212196715675	0.00003	T	0.256474	0.04006	T	0.028426755	0.02179	0.052011006	0.08486	0.028426755	0.02179	0.052011006	0.08486	-4.687	0.33246	T	0.133124925091336	0.14259	0.078	0.07036	B	.	.	0.811049	0.11821	8.390	0.29217792379652491	0.01539	0.00698	0.02970	N	AEFDBI	0.018868	0.00607	N	-1.08062410001593	0.07000	0.3239185	-1.16733684479058	0.06462	0.3111429	1.32301324571216E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	2.13	0.064	0.13662	0.249000	0.17989	-1.148000	0.06189	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.544000	0.30032	0.0:0.5526:0.0:0.4474	6.003	0.18760	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.201913	0.287879	0.177989	0.213450	0.200000	0.198276	0.204268	0.166667	0.1	6181.4	410	chr8	10610143	.	C	T	6181.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.11;DP=3355;ExcessHet=0;FS=1.408;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=21.39;ReadPosRankSum=2.74;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:222,0:222:99:.:.:0,120,1800:.	4	0	1	5
chr8	10611454	10611454	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C2644T:p.R882W	Occult macular dystrophy, Autosomal dominant	0	1505	17	0	0	17	0.00561612	.	.	.	307388	not_specified|not_provided|Occult_macular_dystrophy	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.113	.	0.0027	0.000798722	0.0036	0.0004	0.0041	0	0.0015	0.0058	0.0129	0.0011	0.0020051	310	154602	rs148936402	0.0030	0.0030	0.0031	0.0030	0.0044	0.0030	0.0029	0.0031	0.0031	0.0004	0.0028	0.0130	2.647e-05	0.0002	0.0044	0.0032	0.0032	0.0012	0.0026	0.0026	0.0026	0.0026	0.0037	0.0024	0.0023	0.0033	0.0032	0.0009	0	0.0024	0.0144	0	9.406e-05	0.0204	0.0037	0.0052	0.0012	0.002	0.72154	D	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.39	0.34934	L	3.66	0.04228	T	-1.53	0.37178	N	0.091	0.06990	-0.9115	0.46670	T	0.006	0.01870	T	9	0.0049188137	0.00105	T	.	.	.	0.113	0.31778	.	.	0.12205267543	0.11705	0.1951453495505809	0.19431	.	.	0.232301712036	0.02143	T	0.064561	0.32465	T	-0.719989	0.00028	T	-0.810042	0.01664	T	0.0417623311844674	0.04011	T	0.39926	0.10144	T	0.037631847	0.04862	0.039601736	0.04092	0.037631847	0.04862	0.039601736	0.04091	-5.167	0.38604	T	0.07212204489980628	0.02931	0.140	0.30713	B	.	.	0.302575	0.06781	3.300	0.99164774652686805	0.54212	0.00425	0.02093	N	AEFDBI	0.042938	0.06725	N	-1.66765494603192	0.00963	0.04172438	-1.77872161670099	0.00830	0.03705504	0.983389003906396	0.30551	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.11	-10.2	0.00305	-0.551000	0.06117	-2.721000	0.03430	-1.378000	0.01162	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2056:0.2404:0.2206:0.3333	0.220	0.00155	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003564	0.000000	0.004121	0.005882	0.000000	0.008929	0.003125	0.007634	0.05	1209.43	38	chr8	10611454	.	G	A	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.402;DP=453;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.092;SOR=0.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1041	9	0	1	0
chr8	10611469	10611469	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C2629T:p.H877Y	Occult macular dystrophy, Autosomal dominant	1	1511	9	1	0	11	0.00362677	.	.	.	898691	RP1L1-related_disorder|Occult_macular_dystrophy|Retinal_dystrophy	.|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0103837363551	.	.	0.0004	0	0.0008	0.0020	0	0	0.0041	0.0006	0.0001617	25	154602	rs770403429	9.104e-05	9.713e-05	6.566e-05	0.0001	0.0017	7.794e-05	7.326e-05	0.0013	0.0012	0	0	0	0.0017	0	0	1.649e-05	0.0002	0.0005	8.535e-05	8.529e-05	5.138e-05	0.0001	0.0014	4.953e-05	3.96e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	2.941e-05	0	0.0008	0.013	0.53900	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.59	0.40313	L	3.55	0.04746	T	-1.8	0.42384	N	0.103	0.08646	-0.9101	0.46842	T	0.007	0.02399	T	9	0.009045094	0.00205	T	0.010384	0.26850	T	0.088	0.25558	.	.	0.0138822411134	0.00435	0.09942595993681078	0.09873	.	.	0.35436207056	0.18562	T	0.086259	0.37685	T	-0.713623	0.00030	T	-0.801211	0.01872	T	0.0199657347726233	0.00697	T	0.39686	0.10010	T	0.048444957	0.08446	0.05338017	0.08979	0.048444957	0.08446	0.05338017	0.08978	-5.18	0.38738	T	0.12542323082033374	0.12472	0.102	0.18037	B	.	.	-0.341466	0.02441	0.278	0.33604050164669852	0.02010	0.02994	0.07853	N	AEFDBI	0.031083	0.03251	N	-1.42767578466719	0.02398	0.1058506	-1.49816958146183	0.02360	0.108395	0.00222497563580544	0.09245	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.63	-5.11	0.02682	-0.091000	0.11111	0.430000	0.18314	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2466:0.2096:0.2617:0.2821	0.151	0.00087	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	407.43	38	chr8	10611469	.	G	A	407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.181;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.08;ReadPosRankSum=-1.832;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1041	9	0	1	0
chr8	10622967	10622967	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C235T:p.R79C	Occult macular dystrophy, Autosomal dominant	2	1512	8	0	0	8	0.00263852	.	.	.	152883	Retinitis_pigmentosa|Retinitis_pigmentosa_88|Occult_macular_dystrophy|Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.822	0.513199965374	8e-05	.	0.0002	0.0001	0.0003	0.0005	0	4.602e-05	0.0012	0.0004	0.0001294	20	154602	rs377269054	0.0001	0.0001	9.665e-05	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	5.974e-05	8.944e-05	0	0.0004	0	0.0002	9.802e-05	6.623e-05	0.0005	9.195e-05	9.187e-05	0.0001	8.058e-05	0.0004	5.525e-05	4.363e-05	7.296e-05	3.047e-05	0.0001	0	0	0	0	0	0	8.822e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	3.12	0.87914	M	-3.6	0.95009	D	-7.93	0.96269	D	0.692	0.69737	0.978	0.96827	D	0.898	0.96632	D	9	0.9122136	0.90585	D	0.513	0.95333	D	0.822	0.94315	.	.	0.831912075908	0.83031	0.4220493210700986	0.42121	.	.	0.734552741051	0.72172	T	0.711889	0.91788	D	0.0935166	0.63583	D	0.226555	0.84503	D	0.852314472198486	0.50366	D	0.918008	0.70480	D	0.7132545	0.78787	0.6103005	0.77332	0.7132545	0.78788	0.6103005	0.77333	-8.449	0.64091	D	0.6182220397749271	0.68635	0.633	0.70215	P	.	.	5.135176	0.85954	28.8	0.99932257043501382	0.99439	0.95736	0.65935	D	AEFDBI	0.727570	0.67586	D	0.707436929890652	0.80121	7.224419	0.63129183270006	0.77225	6.638378	0.634286296745296	0.21996	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.74	4.74	0.59717	3.782000	0.55107	7.880000	0.72453	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:0.8283:0.1717	12.094	0.53044	778	0.48011	Doublecortin domain|Doublecortin domain|Doublecortin domain|Doublecortin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1413.43	36	chr8	10622967	.	G	A	1413.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=444;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.187;SOR=0.914	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1524	9	0	1	0
chr8	10730330	10730330	G	A	exonic	SOX7	.	nonsynonymous SNV	SOX7:NM_031439:exon1:c.C104T:p.P35L	.	4	1510	8	0	0	8	0.00264201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.985306910318	.	.	4.701e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs752164129	1.976e-05	2.394e-05	7.024e-06	3.263e-05	0.0003	1.371e-05	1.18e-05	0.0002	0.0002	0	0	0	0	0	0	9.146e-07	1.71e-05	0.0003	6.579e-06	6.563e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.072	0.34982	T	0.088	0.40586	T	0.045	0.21781	B	0.021	0.19346	B	0.003229	0.35241	U	0.278361	0.999973	0.81001	D	0	0.06538	N	-5.08	0.98667	D	-2.71	0.57762	D	0.21	0.23380	0.631	0.92308	D	0.836	0.94510	D	10	0.20234874	0.36351	T	0.985307	0.99932	D	0.308	0.62947	0.212	0.13066	0.874586488965	0.87336	0.4649483105598523	0.46413	0.155294145454	0.17530	0.845745682716	0.88971	D	0.126432	0.45281	T	-0.156958	0.27228	T	-0.173092	0.57160	T	0.107956772977606	0.13209	T	.	.	.	0.09572799	0.22535	0.21197492	0.45648	0.09572799	0.22535	0.21197492	0.45647	-4.512	0.31045	T	.	.	0.066	0.02065	B	.	.	3.000644	0.40094	21.1	0.95019974083693748	0.26002	0.20029	0.20888	N	ALL	0.177958	0.30522	N	-0.803475372671273	0.13221	0.6497995	-0.790380352866837	0.14731	0.7712318	0.999999999990482	0.74766	0.437478	0.07067	0	0.491552	0.07993	0	0.606814	0.37721	0	0.372554	0.06265	0	.	.	3.47	3.47	0.38831	2.330000	0.43544	6.217000	0.55081	0.584000	0.30380	0.046000	0.21249	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	11.803	0.51413	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1141.43	33	chr8	10730330	.	G	A	1141.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=407;ExcessHet=0;FS=3.006;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.699;SOR=0.674	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,968	9	0	1	0
chr8	11331261	11331261	G	T	exonic	SLC35G5	.	nonsynonymous SNV	SLC35G5:NM_054028:exon1:c.G155T:p.G52V	.	421	1085	15	1	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0170220095909	0.0005	0.00219649	0.0015	0.0005	0.0022	0	0	0.0017	0.0022	0.0022	0.0013777	213	154602	rs147745991	0.0013	0.0013	0.0011	0.0014	0.0256	0.0012	0.0012	0.0222	0.0209	0.0018	0.0031	0.0048	0	1.872e-05	0.0256	0.0009	0.0025	0.0030	0.0012	0.0012	0.0011	0.0013	0.0029	0.0011	0.0010	0.0022	0.0020	0.0005	0	0.0029	0.0046	0	0	0.0238	0.0010	0.0061	0.0025	0.0	0.91255	D	0.012	0.63918	D	0.993	0.65571	D	0.955	0.69585	D	0.000330	0.45700	D	0.000000	1	0.81001	D	2.005	0.54552	M	0.29	0.58897	T	-1.8	0.42384	N	0.317	0.35727	-0.9340	0.43545	T	0.139	0.45810	T	10	0.0106809735	0.00237	T	0.017022	0.38544	T	0.266	0.57999	.	.	0.486060746414	0.48238	0.6297074594361097	0.62904	0.434251463315	0.43557	0.510742008686	0.40327	T	0.03401	0.23149	T	-0.317284	0.07123	T	-0.232524	0.51526	T	0.154808677730932	0.17480	T	.	.	.	0.2908944	0.52076	0.35495916	0.61031	0.2908944	0.52076	0.35495916	0.61031	-3.893	0.22197	T	.	.	0.201	0.42520	B	.	.	3.283029	0.44992	22.0	0.98684135970257847	0.44667	0.51133	0.28825	D	AEFDBI	0.204244	0.33069	N	-0.152375965160027	0.35134	2.014203	-0.310186087749674	0.27768	1.543223	0.917422459706119	0.26541	0.421363	0.06395	0	0.514364	0.08380	0	0.514364	0.09456	0	0.664235	0.64389	0	.	.	0.34	0.34	0.15224	4.250000	0.58561	.	.	0.098000	0.17617	1.000000	0.71638	1.000000	0.68203	0.324000	0.25064	2.0E-4:0.0:0.9998:0.0	6.534	0.21541	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025641	0.010309	0.032609	0.050000	0.000000	0.017241	0.021605	0.019084	0.05	2018.43	71	chr8	11331261	.	G	T	2018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.82;DP=844;ExcessHet=0;FS=3.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.74;MQRankSum=0.515;QD=13.64;ReadPosRankSum=0.769;SOR=0.446	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1192	9	0	1	0
chr8	11808615	11808615	C	G	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287750:exon1:c.C98G:p.T33S	.	372	1144	6	0	0	6	0.00261552	.	.	.	2736260	not_provided|FDFT1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0005433	84	154602	rs186055179	0.0048	0.0042	0.0047	0.0048	0.0051	0.0046	0.0046	0.0050	0.0050	0.0007	0.0016	0.0141	0	0.0020	0.0016	0.0051	0.0041	0.0023	0.0027	0.0027	0.0031	0.0024	0.0042	0.0025	0.0024	0.0038	0.0037	0.0005	0	0.0020	0.0167	0	0.0009	0.0034	0.0042	0.0028	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041832626	0.00083	T	.	.	.	.	.	.	.	.	.	0.18973221755270925	0.18891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249275	0.03729	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07554	B	.	.	1.098310	0.14827	11.36	0.7975437410556262	0.12885	0.04790	0.10506	N	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999209733188	0.74766	0.162408	0.03677	1	0.073863	0.01883	0	0.132232	0.03703	1	0.088244	0.02422	0	0.166268	0.28571	4.02	-1.56	0.08080	-0.286000	0.08433	.	.	0.468000	0.21784	0.000000	0.06391	0.003000	0.18671	0.808000	0.38083	0.162:0.4258:0.1426:0.2696	1.463	0.02256	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	334.43	35	chr8	11808615	.	C	G	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.156;DP=332;ExcessHet=0;FS=3.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.936;SOR=0.204	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,945	9	0	1	0
chr8	12132741	12132741	G	C	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.C1269G:p.H423Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.558e-05	0	0	0	0	0	0	0.0005	3.84e-05	1	26028	rs769508744	2.873e-05	2.997e-05	1.571e-05	4.188e-05	0.0005	2.165e-05	1.906e-05	0.0004	0.0003	0	0	0	0	0	0	9.379e-07	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.20218	L	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.040748388	0.02670	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	0.014627868227615259	0.01419	.	.	.	.	.	0.033474	0.22927	T	-0.410876	0.01961	T	-0.495907	0.22773	T	.	.	.	0.547145	0.18749	T	0.2647569	0.49543	0.24239036	0.49658	0.2647569	0.49543	0.24239036	0.49657	-3.315	0.13932	T	.	.	0.106	0.19518	B	.	.	-0.375869	0.02304	0.243	0.35662215530350527	0.02251	0.01021	0.03839	N	AEFBI	.	.	.	.	.	.	.	.	.	4.22671077845571E-5	0.03989	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0475315	0.06682	.	.	.	-0.099000	0.10976	-3.780000	0.02542	0.432000	0.20950	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	2270.08	367	chr8	12132741	.	G	C	2270.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.252;DP=2420;ExcessHet=0;FS=1.902;MLEAC=1;MLEAF=0.056;MQ=57.69;MQRankSum=-1.139;QD=13.43;ReadPosRankSum=-0.963;SOR=0.811	GT:AD:DP:GQ:PL	0/0:546,0:546:99:0,120,1800	8	0	1	1
chr8	12132989	12132989	C	T	exonic	USP17L7	.	nonsynonymous SNV	USP17L7:NM_001256869:exon1:c.G1021A:p.A341T	.	505	973	33	11	0	55	0.0274863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133786	0.0121	0.0010	0.0017	0	0.0112	0.0063	0.0079	0.0558	0.009159	1416	154602	rs201299300	0.0079	0.0085	0.0063	0.0094	0.0534	0.0077	0.0077	0.0520	0.0514	0.0007	0.0018	0.0024	2.921e-05	0.0086	0.0128	0.0054	0.0073	0.0534	0.0052	0.0057	0.0047	0.0057	0.0546	0.0049	0.0048	0.0487	0.0464	0.0009	0	0.0020	0.0027	0.0002	0.0051	0	0.0061	0.0050	0.0546	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.905	0.50856	L	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.0023397803	0.00034	T	.	.	.	.	.	.	.	.	.	0.01632502428590783	0.01588	.	.	.	.	.	0.019464	0.15501	T	-0.306848	0.08028	T	-0.340151	0.40328	T	.	.	.	0.913609	0.69252	D	0.047589988	0.08158	0.19894652	0.43753	0.047589988	0.08157	0.19894652	0.43752	-5.526	0.42110	T	.	.	0.092	0.13644	B	.	.	2.654871	0.34573	19.66	0.78869533038067552	0.12488	0.68074	0.33666	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00569468909275353	0.11016	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.057018	0.00518	0	0.603394	0.40870	.	.	.	3.496000	0.53050	-1.200000	0.06044	0.396000	0.20521	0.997000	0.40164	0.000000	0.08366	0.283000	0.24091	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1945.74	348	chr8	12132989	.	C	T	1945.74	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.784;DP=2427;ExcessHet=0;FS=0.448;InbreedingCoeff=-0.0711;MLEAC=1;MLEAF=0.05;MQ=52;MQRankSum=-3.52;QD=6.34;ReadPosRankSum=2.13;SOR=0.748	GT:AD:DP:GQ:PL	0/0:546,0:546:99:0,120,1800	9	0	1	0
chr8	12137207	12137207	C	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G1554T:p.K518N	.	616	897	8	1	0	10	0.00554324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0034	0.0071885	0.0028	0.0141	0.0010	0.0081	0	0.0007	0.0061	0.0048	0.0022639	350	154602	rs199935289	0.0012	0.0013	0.0011	0.0012	0.0153	0.0011	0.0011	0.0142	0.0137	0.0153	0.0010	0.0004	0.0047	1.998e-05	0.0123	0.0004	0.0030	0.0044	0.0045	0.0051	0.0043	0.0047	0.0133	0.0042	0.0041	0.0123	0.0120	0.0133	0	0.0014	0.0006	0.0087	0	0	0.0008	0.0041	0.0047	0.037	0.43085	D	0.116	0.36497	T	0.004	0.12183	B	0.004	0.10090	B	0.584620	0.11110	U	0.747577	1	0.08975	N	0.975	0.24501	L	2.45	0.15028	T	-1.99	0.45949	N	0.126	0.11912	-1.0086	0.27354	T	0.014	0.05465	T	9	0.0050477684	0.00109	T	.	.	.	0.018	0.03083	0.181	0.08877	0.0716867268079	0.06686	0.02595008225852016	0.02546	0.435405914974	0.43647	0.602028846741	0.53191	T	0.006779	0.06208	T	-0.669028	0.00056	T	-0.726112	0.04505	T	0.00568823666016435	0.00062	T	0.433957	0.11861	T	0.16421562	0.36613	0.1792721	0.40650	0.16421562	0.36613	0.1792721	0.40650	-5.967	0.46003	T	.	.	0.272	0.50609	B	.	.	1.645895	0.21003	15.01	0.90395909990283008	0.19658	0.00472	0.02260	N	AEFBI	0.041708	0.06377	N	-1.0421031108638	0.07743	0.3607321	-1.16024160019713	0.06586	0.3175015	1.9247114733967E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	0.418	0.418	0.15647	0.548000	0.23022	-4.196000	0.02288	0.272000	0.18543	0.078000	0.22289	0.000000	0.08366	0.045000	0.14751	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022672	0.000000	0.027143	0.060748	0.062500	0.018519	0.015385	0.000000	0.05556	705.08	112	chr8	12137207	.	C	A	705.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.525;DP=1005;ExcessHet=0;FS=0.74;MLEAC=1;MLEAF=0.056;MQ=59.62;MQRankSum=0.425;QD=1.72;ReadPosRankSum=1.06;SOR=0.82	GT:AD:DP:GQ:PL	0/1:343,66:409:99:716,0,9731	8	0	1	1
chr8	12137493	12137493	C	T	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G1268A:p.R423H	.	512	1006	3	1	0	5	0.00247893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00280428321346	.	0.000599042	0.0003	0.0004	9.27e-05	0.0001	0	0.0003	0	0.0006	0.0001153	3	26028	rs140365730	0.0002	0.0003	0.0002	0.0002	0.0012	0.0002	0.0002	0.0007	0.0006	0.0004	0.0001	0.0026	0.0009	5.949e-05	0.0012	9.625e-05	0.0005	0.0007	0.0003	0.0004	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0003	0.0006	0	0.0003	0.0021	0.0005	0.0002	0	0.0002	0.0005	0.0002	1.0	0.00964	T	0.923	0.02845	T	0.0	0.02946	B	0.001	0.04355	B	0.191176	0.03251	N	1.842890	1	0.08975	N	0.295	0.10161	N	2.77	0.11407	T	3.23	0.00112	N	0.069	0.04188	-0.9788	0.35277	T	0.002	0.00615	T	9	0.0061574876	0.00139	T	0.002804	0.05840	T	0.068	0.19811	.	.	0.0297737177859	0.01360	0.04018550354600006	0.03964	0.460280711038	0.45581	0.515350341797	0.40973	T	0.001033	0.00564	T	-0.640622	0.00083	T	-0.865837	0.00783	T	0.00461744094989922	0.00049	T	0.554844	0.19218	T	0.017871732	0.00311	0.023883972	0.00402	0.017871732	0.00311	0.023883972	0.00402	-4.156	0.26112	T	.	.	0.061	0.01179	B	.	.	0.349493	0.07226	3.823	0.50639961348687701	0.04420	0.00014	0.00181	N	AEFBI	0.013902	0.00201	N	-2.26530142109739	0.00055	0.002339179	-2.38722876498418	0.00042	0.001846838	0.00398406652623209	0.10368	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	-1.49	0.08259	-1.872000	0.01730	-4.654000	0.02049	-2.079000	0.00404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2364:0.2198:0.2363:0.3075	0.079	0.00027	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002887	0.000000	0.000000	0.018182	0.000000	0.000000	0.003448	0.000000	0.05556	2200.08	352	chr8	12137493	.	C	T	2200.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.16;DP=2467;ExcessHet=0;FS=3.582;MLEAC=1;MLEAF=0.056;MQ=51.96;MQRankSum=-11.74;QD=13.42;ReadPosRankSum=-0.93;SOR=0.968	GT:AD:DP:GQ:PL	0/0:494,0:494:99:0,120,1800	8	0	1	1
chr8	12137772	12137772	C	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.G989T:p.C330F	.	530	982	9	1	0	11	0.00556962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00122202859647	.	0.000399361	0.0012	0	0.0005	0	0.0005	0.0002	0.0035	0.0063	0.0002305	6	26028	rs201342238	0.0004	0.0004	0.0002	0.0006	0.0054	0.0004	0.0004	0.0049	0.0048	0	0.0002	0	0	7.84e-05	0.0020	6.66e-05	0.0006	0.0054	0.0001	0.0001	8.332e-05	0.0002	0.0036	8.233e-05	6.822e-05	0.0022	0.0017	0	0	7.274e-05	0	0	0.0002	0	1.547e-05	0	0.0036	0.0	0.91255	D	0.001	0.83351	D	0.142	0.27621	B	0.216	0.37572	B	0.001113	0.40219	N	0.160618	0.91258	0.36451	D	2.255	0.64187	M	3.47	0.05188	T	-9.72	0.98616	D	0.454	0.49146	-1.0625	0.11142	T	0.022	0.09284	T	10	0.013972223	0.00295	T	0.001222	0.01608	T	0.178	0.44724	.	.	0.370424759081	0.36655	0.02830831682622384	0.02780	1.4404443071	0.85963	0.526339828968	0.42519	T	0.006646	0.06077	T	-0.400585	0.02295	T	-0.51563	0.20739	T	0.218766700757528	0.21402	T	0.975802	0.91539	D	0.82398933	0.85491	0.5145042	0.71947	0.82398933	0.85492	0.5145042	0.71948	-12.374	0.86625	D	.	.	0.224	0.45520	B	.	.	2.181801	0.27809	17.59	0.98032682235053026	0.37728	0.51360	0.28877	D	AEFBI	0.366179	0.45409	N	-0.546848914256089	0.20582	1.086094	-0.691592343951948	0.17169	0.9117934	1.08596093194533E-5	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	-0.342	0.12008	3.976000	0.56574	-0.079000	0.12201	0.272000	0.18543	1.000000	0.71638	0.000000	0.08366	0.020000	0.11549	0.0:0.6862:0.3138:0.0	6.344	0.20546	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000624	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004673	0.05556	739.08	385	chr8	12137772	.	C	A	739.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.951;DP=2917;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=49.81;MQRankSum=-0.701;QD=1.18;ReadPosRankSum=1.54;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:539,88:627:99:1|0:12137765_G_A:750,0,20703:12137765	8	0	1	1
chr8	12194020	12194020	C	A	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon1:c.G51T:p.E17D	.	.	.	.	.	.	.	.	.	.	.	2681295	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.106840797513	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1480769474	5.125e-05	5.525e-05	4.767e-05	5.49e-05	0.0010	4.133e-05	3.77e-05	0.0004	0.0002	4.398e-05	5.703e-05	0	0	0	0.0010	5.398e-05	3.724e-05	3.924e-05	4.271e-05	4.014e-05	5.576e-05	2.91e-05	9.003e-05	1.833e-05	1.207e-05	3.827e-05	2.618e-05	0	0	0	0	0	0	0	9.003e-05	0	0	0.055	0.48642	T	0.01	0.65728	D	0.745	0.50750	P	0.2	0.45921	B	0.000187	0.00507	U	7739.210000	1	0.81001	D	2.635	0.77114	M	1.83	0.24841	T	-1.61	0.43524	N	0.163	0.26354	-1.0041	0.28725	T	0.083	0.32642	T	10	0.18477651	0.33867	T	0.106841	0.78263	D	0.185	0.45933	0.28	0.23483	0.2338531098	0.23012	0.32896826886501584	0.32809	1.64548930497	0.89442	.	.	.	0.013482	0.11655	T	-0.0331868	0.46952	T	-0.285447	0.46243	T	0.0818992778658867	0.10230	T	0.554844	0.19218	T	0.07789898	0.17707	0.10510897	0.25259	0.07789898	0.17706	0.10510897	0.25259	-7.614	0.58408	D	.	.	0.421	0.61679	A	.;.;.;.;.	.;.;.;.;.	3.422994	0.47542	22.5	0.98588524381714848	0.43336	0.55611	0.29908	D	AEFDGBCI	0.277295	0.39184	N	-0.272265745087701	0.30224	1.683209	-0.429176893705979	0.24145	1.320588	2.27104957243636E-4	0.06048	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	1.72	1.72	0.23498	1.193000	0.31771	4.459000	0.43452	0.268000	0.18485	0.901000	0.31451	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	7.383	0.26039	988	0.01987	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	53.94	5	chr8	12194020	.	C	A	53.94	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=103;ExcessHet=0;FS=0;InbreedingCoeff=-0.0855;MLEAC=1;MLEAF=0.05;MQ=29.77;MQRankSum=-0.385;QD=5.39;ReadPosRankSum=1.44;SOR=0.446	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	9	0	1	0
chr8	13499212	13499212	C	A	exonic	DLC1	.	nonsynonymous SNV	DLC1:NM_001348081:exon2:c.G860T:p.G287V,DLC1:NM_024767:exon2:c.G860T:p.G287V,DLC1:NM_182643:exon2:c.G860T:p.G287V	Colorectal cancer, somatic	421	1098	3	0	0	3	0.00136426	.	.	.	3849488	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0220901015091	7.7e-05	.	7.413e-05	0	0	0	0	7.492e-05	0	0.0002	5.82e-05	9	154602	rs35445357	4.173e-05	4.173e-05	3.403e-05	4.95e-05	0.0003	3.31e-05	3.001e-05	8.885e-05	7.053e-05	0	0	0.0010	0	0	0.0003	9.892e-06	0.0002	0.0002	3.944e-05	3.94e-05	3.854e-05	4.037e-05	0.0004	1.716e-05	1.13e-05	7.279e-05	3.025e-05	0	0	0.0001	0.0006	0	0	0	0	0	0.0004	0.259	0.26300	T	0.014	0.92824	D	0.002	0.47557	B	0.005	0.44178	B	0.002592	0.36278	N	0.000000	0.999599	0.47742	D	1.67	0.42885	L	3.47	0.13916	T	-0.39	0.80943	N	0.138	0.22098	-1.0437	0.16207	T	0.025	0.10910	T	10	0.06354615	0.08295	T	0.02209	0.44941	T	0.146	0.38789	.	.	0.707926867699	0.70538	0.08723451821058187	0.08656	0.0254209843735	0.02595	0.33968347311	0.16391	T	0.06115	0.31577	T	-0.210475	0.19313	T	-0.243917	0.50415	T	0.0869187869652326	0.10849	T	0.782522	0.41827	T	0.08228183	0.18948	0.07004658	0.14833	0.08228183	0.18948	0.07004658	0.14833	-3.726	0.19703	T	.	.	0.096	0.32969	B	.;.;.	.;.;.	1.706239	0.21731	15.32	0.99260906011180439	0.57222	0.70775	0.34731	D	AEFDBIJ	0.263239	0.38082	N	-0.0715027840408876	0.38645	2.266658	-0.0232814568880479	0.38666	2.281295	0.999924481479933	0.46280	0.615465	0.37627	0	0.573888	0.26702	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.44	3.56	0.39892	1.749000	0.37946	1.599000	0.27573	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.425000	0.27339	0.1533:0.6308:0.1325:0.0834	5.290	0.15030	973	0.05605	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2157.43	48	chr8	13499212	.	C	A	2157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.362;DP=590;ExcessHet=0;FS=4.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.219;SOR=0.754	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,107,1587	9	0	1	0
chr8	17210461	17210461	C	G	exonic	ZDHHC2	.	nonsynonymous SNV	ZDHHC2:NM_001362989:exon10:c.C796G:p.L266V,ZDHHC2:NM_016353:exon10:c.C931G:p.L311V,ZDHHC2:NM_001362988:exon11:c.C847G:p.L283V	.	435	1084	3	0	0	3	0.00138185	.	.	.	3492082	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0154800597249	.	.	5.019e-05	0	0	0	0	4.53e-05	0	0.0002	3.88e-05	6	154602	rs747924334	3.018e-05	3.01e-05	2.047e-05	4e-05	0.0005	2.288e-05	2.038e-05	0.0001	7.575e-05	0	0	0	0	0	0.0005	2.432e-05	6.642e-05	0.0001	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.515	0.07378	T	0.603	0.07868	T	0.131	0.27154	B	0.039	0.23607	B	0.164934	0.17547	N	0.520458	0.946733	0.26622	N	1.61	0.41143	L	0.96	0.42888	T	-0.9	0.24244	N	0.363	0.40465	-1.0441	0.16089	T	0.068	0.27980	T	10	0.06962973	0.10019	T	0.01548	0.36235	T	0.021	0.04004	0.141	0.04462	0.27855597813	0.27464	0.24435917083279476	0.24349	0.0221242798696	0.02218	0.453134655952	0.32372	T	0.009998	0.09062	T	-0.349529	0.04756	T	-0.534345	0.18854	T	0.0276433285325766	0.01636	T	0.818818	0.47619	T	0.06032472	0.12366	0.029285012	0.01249	0.06032472	0.12365	0.029285012	0.01249	-4.484	0.30679	T	.	.	0.063	0.01491	B	.	.	1.195006	0.15865	12.16	0.94080585512572557	0.24229	0.87633	0.47237	D	AEFBI	0.205854	0.33217	N	-0.462310311367204	0.23325	1.251734	-0.372932264778595	0.25807	1.421512	0.36297931483761	0.19795	0.741868	0.97996	0	0.709663	0.81188	0	0.709663	0.75317	0	0.662026	0.63922	0	.	.	5.42	2.47	0.29113	1.786000	0.38326	0.530000	0.19240	0.549000	0.26987	1.000000	0.71638	0.997000	0.33255	0.798000	0.37648	0.0:0.6673:0.1462:0.1865	6.932	0.23628	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	567.43	35	chr8	17210461	.	C	G	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.542;DP=368;ExcessHet=0;FS=3.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-2.258;SOR=1.229	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,898	9	0	1	0
chr8	17543652	17543652	G	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon2:c.G313C:p.V105L,SLC7A2:NM_001164771:exon2:c.G433C:p.V145L,SLC7A2:NM_003046:exon2:c.G433C:p.V145L,SLC7A2:NM_001370337:exon3:c.G313C:p.V105L,SLC7A2:NM_001370338:exon3:c.G313C:p.V105L	.	416	1069	37	0	0	37	0.0170115	.	.	.	3210636	SLC7A2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.620	.	0.0020	0.00259585	0.0039	0.0003	0.0019	0	0.0011	0.0040	0.0038	0.0149	0.0037386	578	154602	rs145975234	0.0029	0.0030	0.0025	0.0033	0.0152	0.0028	0.0028	0.0144	0.0141	0.0003	0.0013	0.0086	0	0.0011	0.0050	0.0022	0.0032	0.0152	0.0020	0.0020	0.0016	0.0023	0.0166	0.0018	0.0017	0.0137	0.0126	0.0004	0.0066	0.0007	0.0075	0	0.0007	0	0.0022	0.0019	0.0166	0.027	0.48642	D	0.003	0.76473	D	0.998	0.90584	D	0.967	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.045	0.86684	M	-2.5	0.89219	D	-2.65	0.56787	D	0.853	0.86511	0.912	0.95851	D	0.872	0.95742	D	10	0.010587305	0.00235	T	.	.	.	0.620	0.85249	0.631	0.76699	0.894632018257	0.89358	0.8347756793506065	0.83436	0.168244600997	0.18970	0.867851257324	0.92260	D	0.697762	0.91270	D	0.0481316	0.58103	T	0.309335	0.88623	D	0.0640459997518821	0.07789	T	0.940956	0.77922	D	0.41360077	0.61663	0.27506047	0.53439	0.41360077	0.61664	0.27506047	0.53438	-14.735	0.95669	D	.	.	0.903	0.83884	P	.;.;.;.;.;.	.;.;.;.;.;.	4.258830	0.64710	24.7	0.99531259542672745	0.69901	0.99314	0.94366	D	AEFGBI	0.952643	0.96827	D	0.753607304429032	0.83140	7.939863	0.600031295634712	0.74942	6.223826	1.0	0.98316	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	9.956000	0.98995	10.026000	0.83153	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.046000	0.14843	0.0:0.0:1.0:0.0	20.090	0.97813	814	0.42100	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.004076	0.008772	0.000000	0.000000	0.021341	0.007576	0.05	1303.43	35	chr8	17543652	.	G	C	1303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.31;DP=504;ExcessHet=0;FS=8.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=0.244;SOR=1.339	GT:AD:DP:GQ:PL	0/1:104,57:161:99:1315,0,2377	9	0	1	0
chr8	17551800	17551800	T	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon6:c.T869C:p.I290T,SLC7A2:NM_001164771:exon6:c.T989C:p.I330T,SLC7A2:NM_003046:exon6:c.T989C:p.I330T,SLC7A2:NM_001370337:exon7:c.T869C:p.I290T,SLC7A2:NM_001370338:exon7:c.T869C:p.I290T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.153118763121	.	.	1.647e-05	9.61e-05	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs769010170	5.883e-05	5.883e-05	6.398e-05	5.363e-05	8.961e-05	4.876e-05	4.496e-05	6.059e-05	5.568e-05	8.961e-05	0	0	0	0	0	7.374e-05	0	1.159e-05	6.579e-06	6.568e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.048	0.42199	D	0.06	0.45744	T	0.385	0.34473	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	-2.7	0.90509	D	-3.67	0.71042	D	0.478	0.54845	0.776	0.94109	D	0.822	0.94005	D	10	0.7389133	0.74817	D	0.153119	0.83443	D	0.753	0.91541	0.511	0.60846	0.977200349778	0.97694	0.8134863486220552	0.81304	0.142311550209	0.16042	0.740857839584	0.73099	T	0.761743	0.93551	D	0.212833	0.75099	D	0.347379	0.90213	D	0.78548538684845	0.45396	D	0.870113	0.57956	D	0.34900966	0.56990	0.38914168	0.63741	0.34900966	0.56990	0.38914168	0.63741	-8.977	0.68395	D	.	.	0.129	0.29670	B	.;.;.;.;.;.	.;.;.;.;.;.	4.044879	0.59916	24.2	0.9971652864262619	0.81703	0.97953	0.78390	D	AEFBI	0.864017	0.78270	D	0.432539562043891	0.63221	4.55161	0.486241315823866	0.67076	5.036067	0.999999699555447	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.269000	0.72536	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.740	0.77647	836	0.38045	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1212.43	33	chr8	17551800	.	T	C	1212.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.555;DP=430;ExcessHet=0;FS=3.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.143;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	9	0	1	0
chr8	17874389	17874389	C	A	exonic	FGL1	.	nonsynonymous SNV	FGL1:NM_004467:exon4:c.G377T:p.R126L,FGL1:NM_147203:exon4:c.G377T:p.R126L,FGL1:NM_201552:exon5:c.G377T:p.R126L,FGL1:NM_201553:exon5:c.G377T:p.R126L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.933	0.348548838683	.	.	2.474e-05	0	0	0.0002	0	1.5e-05	0	0	1.94e-05	3	154602	rs768389622	8.895e-06	8.893e-06	6.807e-06	1.1e-05	0.0005	4.96e-06	3.82e-06	0.0001	7.544e-05	2.988e-05	0	0	7.56e-05	0	0.0005	4.497e-06	0	1.16e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.052921	1	0.81001	D	4.33	0.98384	H	-2.05	0.85799	D	-6.14	0.90140	D	0.974	0.98466	0.979	0.96843	D	0.855	0.95152	D	10	0.97623897	0.97403	D	0.348549	0.92207	D	0.933	0.98452	0.868	0.96212	0.927570053737	0.92683	0.8299121217960965	0.82950	.	.	0.599829792976	0.52880	T	0.268858	0.64101	T	0.28485	0.81728	D	0.397092	0.92018	D	0.99935656785965	0.97079	D	0.993067	0.97771	D	0.90694314	0.92011	0.9095884	0.95659	0.90694314	0.92012	0.9095884	0.95660	-11.92	0.84458	D	.	.	0.934	0.85378	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.916655	0.80938	27.4	0.99882222214314853	0.95813	0.98514	0.83591	D	AEFBI	0.964416	0.98654	D	0.993882067695764	0.95553	13.73111	0.892627745819599	0.95243	13.44072	0.999999999801761	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.239000	0.77636	5.807000	0.49979	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.968	0.92682	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	843.43	43	chr8	17874389	.	C	A	843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=372;ExcessHet=0;FS=2.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-0.714;SOR=1.362	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	9	0	1	0
chr8	17874426	17874426	T	C	exonic	FGL1	.	nonsynonymous SNV	FGL1:NM_004467:exon4:c.A340G:p.M114V,FGL1:NM_147203:exon4:c.A340G:p.M114V,FGL1:NM_201552:exon5:c.A340G:p.M114V,FGL1:NM_201553:exon5:c.A340G:p.M114V	.	429	1060	30	3	0	36	0.0166976	.	.	.	3547046	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.485	.	0.0052	0.00599042	0.0084	0.0007	0.0076	0	0.0060	0.0095	0.0154	0.0144	0.0003842	10	26028	rs35311020	0.0064	0.0065	0.0060	0.0069	0.0310	0.0063	0.0063	0.0273	0.0259	0.0009	0.0053	0.0384	0	0.0047	0.0310	0.0053	0.0088	0.0147	0.0060	0.0060	0.0059	0.0061	0.0159	0.0057	0.0055	0.0131	0.0120	0.0012	0	0.0040	0.0363	0	0.0044	0.0136	0.0077	0.0118	0.0159	0.008	0.58626	D	0.008	0.67890	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.071198	0.999992	0.58761	D	2.725	0.79712	M	1.78	0.25678	T	-2.8	0.59226	D	0.891	0.89020	-0.7191	0.59507	T	0.146	0.47021	T	10	0.010201037	0.00228	T	.	.	.	0.485	0.77399	.	.	0.301122078929	0.29733	0.5863605257373335	0.58566	.	.	0.591809689999	0.51749	T	0.027311	0.20030	T	-0.134255	0.30810	T	0.047	0.73366	D	0.0193578184801095	0.00640	T	0.833317	0.50212	T	0.72937727	0.79688	0.7215388	0.83557	0.72937727	0.79690	0.7215388	0.83557	-7.693	0.58959	D	.	.	0.386	0.59749	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.355095	0.66921	25.0	0.99438312256023687	0.64621	0.97972	0.78540	D	AEFBI	0.959981	0.98057	D	0.79914716100608	0.86051	8.763559	0.742853908507329	0.85621	8.635917	0.999999813152066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.340000	0.78530	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.253	0.73258	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018127	0.005051	0.014946	0.032164	0.000000	0.008621	0.021341	0.018939	0.05	1081.43	43	chr8	17874426	.	T	C	1081.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.154;DP=391;ExcessHet=0;FS=8.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-0.817;SOR=0.962	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	9	0	1	0
chr8	17939724	17939724	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon5:c.A646G:p.I216V,PCM1:NM_001352651:exon5:c.A646G:p.I216V,PCM1:NM_001352652:exon5:c.A646G:p.I216V,PCM1:NM_001315507:exon6:c.A646G:p.I216V,PCM1:NM_001315508:exon6:c.A646G:p.I216V,PCM1:NM_001352632:exon6:c.A646G:p.I216V,PCM1:NM_001352634:exon6:c.A646G:p.I216V,PCM1:NM_001352636:exon6:c.A646G:p.I216V,PCM1:NM_001352637:exon6:c.A646G:p.I216V,PCM1:NM_001352639:exon6:c.A646G:p.I216V,PCM1:NM_001352640:exon6:c.A646G:p.I216V,PCM1:NM_001352641:exon6:c.A646G:p.I216V,PCM1:NM_001352643:exon6:c.A646G:p.I216V,PCM1:NM_001352644:exon6:c.A646G:p.I216V,PCM1:NM_001352646:exon6:c.A646G:p.I216V,PCM1:NM_001352649:exon6:c.A646G:p.I216V,PCM1:NM_001352654:exon6:c.A646G:p.I216V,PCM1:NM_001352658:exon6:c.A646G:p.I216V,PCM1:NM_001352659:exon6:c.A646G:p.I216V,PCM1:NM_006197:exon6:c.A646G:p.I216V,PCM1:NM_001352638:exon7:c.A646G:p.I216V,PCM1:NM_001352655:exon7:c.A646G:p.I216V,PCM1:NM_001352633:exon8:c.A646G:p.I216V,PCM1:NM_001352635:exon8:c.A646G:p.I216V,PCM1:NM_001352642:exon8:c.A646G:p.I216V,PCM1:NM_001352645:exon8:c.A646G:p.I216V,PCM1:NM_001352648:exon8:c.A646G:p.I216V,PCM1:NM_001352650:exon8:c.A646G:p.I216V,PCM1:NM_001352653:exon8:c.A646G:p.I216V,PCM1:NM_001352656:exon8:c.A646G:p.I216V,PCM1:NM_001352657:exon8:c.A646G:p.I216V,PCM1:NM_001352660:exon8:c.A646G:p.I216V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0146067666369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.865e-06	5.472e-06	1.415e-06	4.353e-06	3.16e-05	6.7e-07	4.5e-07	.	.	3.16e-05	0	0	2.683e-05	0	0	9.274e-07	0	1.317e-05	6.573e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.188	0.26852	T	0.064	0.92824	T	0.858	0.47274	P	0.856	0.61001	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	3.31	0.29342	T	-0.51	0.20358	N	0.639	0.65159	-1.0242	0.22344	T	0.118	0.41407	T	10	0.3537261	0.52173	T	0.014607	0.34839	T	0.220	0.51569	0.189	0.09907	0.304760801415	0.30091	0.16954854941018246	0.16874	.	.	0.677305340767	0.63882	T	0.066295	0.32909	T	-0.0362541	0.46503	T	-0.289853	0.45787	T	0.888498902320862	0.53909	D	0.856914	0.69206	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.52467	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.038058	0.59763	24.1	0.99919021385496309	0.98586	0.99534	0.97166	D	AEBI	0.879973	0.80629	D	0.621937673990629	0.74564	6.154138	0.664843842189893	0.79719	7.142443	0.999999999945177	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.226000	0.94392	8.001000	0.76151	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.841	0.69858	704	0.57414	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	863.43	33	chr8	17939724	.	A	G	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=364;ExcessHet=0;FS=2.519;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.56;SOR=1.241	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	9	0	1	0
chr8	17957605	17957605	G	A	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon12:c.G1870A:p.E624K,PCM1:NM_001352652:exon12:c.G1870A:p.E624K,PCM1:NM_001315507:exon13:c.G1870A:p.E624K,PCM1:NM_001315508:exon13:c.G1873A:p.E625K,PCM1:NM_001352634:exon13:c.G1870A:p.E624K,PCM1:NM_001352639:exon13:c.G1870A:p.E624K,PCM1:NM_001352640:exon13:c.G1873A:p.E625K,PCM1:NM_001352641:exon13:c.G1870A:p.E624K,PCM1:NM_001352644:exon13:c.G1870A:p.E624K,PCM1:NM_001352646:exon13:c.G1870A:p.E624K,PCM1:NM_001352649:exon13:c.G1873A:p.E625K,PCM1:NM_001352651:exon13:c.G1987A:p.E663K,PCM1:NM_001352654:exon13:c.G1870A:p.E624K,PCM1:NM_001352658:exon13:c.G1870A:p.E624K,PCM1:NM_006197:exon13:c.G1870A:p.E624K,PCM1:NM_001352632:exon14:c.G1987A:p.E663K,PCM1:NM_001352636:exon14:c.G1990A:p.E664K,PCM1:NM_001352637:exon14:c.G1987A:p.E663K,PCM1:NM_001352643:exon14:c.G1987A:p.E663K,PCM1:NM_001352655:exon14:c.G1870A:p.E624K,PCM1:NM_001352635:exon15:c.G1873A:p.E625K,PCM1:NM_001352638:exon15:c.G1987A:p.E663K,PCM1:NM_001352642:exon15:c.G1870A:p.E624K,PCM1:NM_001352645:exon15:c.G1870A:p.E624K,PCM1:NM_001352648:exon15:c.G1873A:p.E625K,PCM1:NM_001352653:exon15:c.G1870A:p.E624K,PCM1:NM_001352656:exon15:c.G1870A:p.E624K,PCM1:NM_001352657:exon15:c.G1870A:p.E624K,PCM1:NM_001352633:exon16:c.G1987A:p.E663K,PCM1:NM_001352650:exon16:c.G1987A:p.E663K	.	1	1495	26	0	0	26	0.00862069	.	.	.	751049	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.106	0.00681394270651	0.0003	0.000798722	0.0023	0	0.0033	0.0005	0	0.0007	0	0.0076	0.0009832	152	154602	rs200548498	0.0007	0.0007	0.0005	0.0009	0.0101	0.0007	0.0007	0.0080	0.0073	0.0002	0.0004	0	0	1.953e-05	0.0101	0.0003	0.0007	0.0077	0.0006	0.0006	0.0004	0.0008	0.0087	0.0005	0.0005	0.0066	0.0059	2.406e-05	0	0.0011	0	0	0	0.0034	0.0003	0.0028	0.0087	0.306	0.39334	T	0.021	0.58089	D	0.89	0.48942	P	0.419	0.45047	B	0.013640	0.28781	N	0.426089	0.985317	0.40266	D	.	.	.	3.4	0.19450	T	-1.44	0.41809	N	0.427	0.57604	-1.1540	0.00911	T	0.069	0.28346	T	10	0.005885303	0.00132	T	0.006814	0.18010	T	0.106	0.30130	.	.	0.518858945281	0.51528	0.057921824756811104	0.05733	.	.	0.425548821688	0.28600	T	0.028726	0.20742	T	-0.447732	0.01164	T	-0.411067	0.32103	T	0.0327865182706198	0.02435	T	0.973003	0.90628	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.30049	B	.;.;.;.;.	.;.;.;.;.	4.307470	0.65821	24.9	0.99789681366376193	0.87572	0.92451	0.55742	D	AEFBI	0.281370	0.39496	N	0.382420225242975	0.60468	4.236178	0.430501876940594	0.63474	4.581818	0.999999154729193	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	4.206000	0.58271	10.023000	0.83142	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.920	0.86031	889	0.27310	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008081	0.005051	0.004076	0.005917	0.000000	0.008621	0.009202	0.022727	0.05	1377.43	40	chr8	17957605	.	G	A	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.9;DP=496;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=-0.132;SOR=0.779	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr8	17962121	17962121	A	G	exonic	PCM1	.	nonsynonymous SNV	PCM1:NM_001352647:exon15:c.A2410G:p.S804G,PCM1:NM_001352652:exon15:c.A2410G:p.S804G,PCM1:NM_001315507:exon16:c.A2410G:p.S804G,PCM1:NM_001315508:exon16:c.A2413G:p.S805G,PCM1:NM_001352634:exon16:c.A2410G:p.S804G,PCM1:NM_001352639:exon16:c.A2410G:p.S804G,PCM1:NM_001352640:exon16:c.A2413G:p.S805G,PCM1:NM_001352641:exon16:c.A2410G:p.S804G,PCM1:NM_001352644:exon16:c.A2410G:p.S804G,PCM1:NM_001352646:exon16:c.A2410G:p.S804G,PCM1:NM_001352649:exon16:c.A2413G:p.S805G,PCM1:NM_001352651:exon16:c.A2527G:p.S843G,PCM1:NM_001352654:exon16:c.A2410G:p.S804G,PCM1:NM_001352658:exon16:c.A2410G:p.S804G,PCM1:NM_006197:exon16:c.A2410G:p.S804G,PCM1:NM_001352632:exon17:c.A2527G:p.S843G,PCM1:NM_001352636:exon17:c.A2530G:p.S844G,PCM1:NM_001352637:exon17:c.A2527G:p.S843G,PCM1:NM_001352643:exon17:c.A2527G:p.S843G,PCM1:NM_001352655:exon17:c.A2410G:p.S804G,PCM1:NM_001352635:exon18:c.A2413G:p.S805G,PCM1:NM_001352638:exon18:c.A2527G:p.S843G,PCM1:NM_001352642:exon18:c.A2410G:p.S804G,PCM1:NM_001352645:exon18:c.A2410G:p.S804G,PCM1:NM_001352648:exon18:c.A2413G:p.S805G,PCM1:NM_001352653:exon18:c.A2410G:p.S804G,PCM1:NM_001352656:exon18:c.A2410G:p.S804G,PCM1:NM_001352657:exon18:c.A2410G:p.S804G,PCM1:NM_001352633:exon19:c.A2527G:p.S843G,PCM1:NM_001352650:exon19:c.A2527G:p.S843G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00349419692468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25055	T	0.344	0.20745	T	.	.	.	.	.	.	0.123959	0.18899	N	0.615544	1	0.08975	N	.	.	.	3.45	0.33842	T	-1.73	0.41046	N	0.062	0.17278	-1.0570	0.12517	T	0.050	0.21339	T	10	0.070652425	0.10307	T	0.003494	0.07908	T	0.051	0.14325	0.122	0.02867	0.26169431596	0.25797	0.08217163870324999	0.08152	.	.	0.298138737679	0.10125	T	.	.	.	-0.277765	0.10906	T	-0.636767	0.09908	T	0.0455819948381863	0.04708	T	0.681032	0.28992	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01387	B	.;.;.;.	.;.;.;.	1.540773	0.19760	14.42	0.97461291883773926	0.34084	0.17449	0.19842	N	AEFDBIJ	0.053138	0.09549	N	-0.743915300584118	0.14800	0.740288	-0.715691337405069	0.16571	0.8771971	0.982556384511255	0.30417	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	-0.183	0.12631	1.276000	0.32760	2.164000	0.31003	0.756000	0.94297	0.085000	0.22462	0.001000	0.17328	0.769000	0.36481	0.4603:0.279:0.2607:0.0	4.971	0.13465	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1587.43	41	chr8	17962121	.	A	G	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.2;DP=559;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-1.188;SOR=0.697	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr8	18084701	18084701	A	G	exonic	ASAH1	.	nonsynonymous SNV	ASAH1:NM_001127505:exon1:c.T101C:p.F34S,ASAH1:NM_004315:exon1:c.T101C:p.F34S	Farber lipogranulomatosis, Autosomal recessive;Spinal muscular atrophy with progressive myoclonic epilepsy, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	2231401	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0113706205888	0.0002	.	0.0004	0	0	0	0	0.0006	0.0011	0.0003	0.000304	47	154602	rs142924828	0.0004	0.0004	0.0004	0.0004	0.0024	0.0004	0.0003	0.0015	0.0012	0	6.714e-05	0	0	5.619e-05	0.0024	0.0004	0.0005	0.0003	0.0003	0.0003	0.0002	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	2.406e-05	0	0.0001	0	0	0	0	0.0005	0.0009	0.0004	0.237	0.22224	T	0.036	0.53072	D	0.002	0.09854	B	0.001	0.04355	B	0.000000	0.00162	N	22.581200	1	0.08975	N	.	.	.	-0.4	0.70133	T	0.27	0.04306	N	0.109	0.09490	-0.9545	0.40185	T	0.152	0.48049	T	10	0.036254436	0.01914	T	0.011371	0.28926	T	0.171	0.43483	.	.	0.104622674875	0.10061	0.3581652580872259	0.35730	0.00220502495395	0.00188	0.278205573559	0.07244	T	0.006271	0.17060	T	-0.418274	0.01754	T	-0.484565	0.23962	T	0.0414029310413511	0.03945	T	0.633137	0.25428	T	.	.	.	.	.	.	.	.	-3.95	0.23053	T	.	.	0.109	0.75617	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.305304	0.06806	3.330	0.85606809834419684	0.15998	0.07508	0.13522	N	ALL	0.038479	0.05452	N	-1.53651090320072	0.01615	0.07059758	-1.64161946922401	0.01420	0.06419315	0.99999999265446	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.24	-4.49	0.03257	-0.288000	0.08412	-0.066000	0.12360	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2539:0.1912:0.5549:0.0	6.079	0.19156	923	0.18507	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1223.43	33	chr8	18084701	.	A	G	1223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=430;ExcessHet=0;FS=0.738;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.162;SOR=0.611	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1117	9	0	1	0
chr8	18222696	18222696	T	G	exonic	NAT1	.	nonsynonymous SNV	NAT1:NM_001160174:exon1:c.T649G:p.F217V,NAT1:NM_000662:exon3:c.T649G:p.F217V,NAT1:NM_001160171:exon4:c.T649G:p.F217V,NAT1:NM_001160173:exon4:c.T649G:p.F217V,NAT1:NM_001160176:exon4:c.T835G:p.F279V,NAT1:NM_001160170:exon5:c.T649G:p.F217V,NAT1:NM_001160172:exon5:c.T649G:p.F217V,NAT1:NM_001160175:exon5:c.T835G:p.F279V,NAT1:NM_001160179:exon5:c.T649G:p.F217V,NAT1:NM_001291962:exon6:c.T835G:p.F279V	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.0261605364514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171885310	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.007	0.69154	D	0.99	0.73220	D	0.957	0.74843	D	0.000004	0.62929	D	0.062472	0.999974	0.53665	D	4.04	0.96988	H	4.2	0.02689	T	-5.88	0.89152	D	0.635	0.65330	-1.0277	0.21200	T	0.055	0.23375	T	10	0.9755274	0.97305	D	0.026161	0.49088	D	0.309	0.63055	0.933	0.98990	0.403469152278	0.39964	0.8337172100996877	0.83330	0.0917472706437	0.10355	0.440707713366	0.30673	T	0.319622	0.69089	T	-0.00645039	0.50762	T	-0.247042	0.50108	T	0.982955038547516	0.74805	D	0.839416	0.51368	T	0.9388053	0.95125	0.7097968	0.82883	0.9388053	0.95125	0.7097968	0.82884	-11.11	0.80258	D	.	.	0.852	0.81771	P	.;.;.;.;.;.	.;.;.;.;.;.	3.835576	0.55468	23.6	0.96384372317559464	0.29630	0.97279	0.73757	D	AEFBI	0.593672	0.58890	D	0.466709007220709	0.65156	4.787349	0.233830297838367	0.51734	3.353444	0.98836189474093	0.31492	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	4.21	4.21	0.48984	5.729000	0.68186	0.199000	0.15831	0.609000	0.47794	1.000000	0.71638	0.004000	0.18990	0.699000	0.34110	0.0:0.0:0.0:1.0	11.536	0.49892	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1889.43	35	chr8	18222696	.	T	G	1889.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.527;SOR=0.698	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1100	9	0	1	0
chr8	20253333	20253333	C	T	exonic	LZTS1	.	nonsynonymous SNV	LZTS1:NM_001362884:exon3:c.G598A:p.V200M,LZTS1:NM_021020:exon3:c.G598A:p.V200M	Esophageal squamous cell carcinoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2858874	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00499393172165	.	.	2.496e-05	0	0	0	0	1.516e-05	0	0.0001	1.94e-05	3	154602	rs762386540	2.121e-05	2.257e-05	1.634e-05	2.613e-05	0.0001	1.52e-05	1.325e-05	7.997e-05	6.236e-05	0	0	0	0.0001	0	0	1.259e-05	0	0.0001	6.568e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.29	0.14996	T	0.238	0.24694	T	0.042	0.28304	B	0.006	0.27960	B	0.003117	0.35419	N	0.304540	0.944277	0.37442	D	1.59	0.40313	L	2.27	0.22270	T	-0.31	0.12099	N	0.125	0.11912	-1.0378	0.17985	T	0.028	0.12147	T	10	0.038592935	0.02289	T	0.004994	0.12598	T	0.031	0.07369	0.115	0.02372	0.248133497653	0.24425	0.20124872710885697	0.20041	0.367320940918	0.38292	0.389323055744	0.23575	T	0.086296	0.37692	T	-0.393026	0.02571	T	-0.565663	0.15848	T	0.0607723631966192	0.07290	T	0.778722	0.41238	T	0.050955128	0.09284	0.0534909	0.09022	0.050955128	0.09284	0.0534909	0.09021	-4.024	0.24162	T	0.09108131174238696	0.05741	0.071	0.06803	B	.;.;.	.;.;.	2.215650	0.28270	17.74	0.96985568627913399	0.31879	0.31805	0.24429	N	AEFDBI	0.286866	0.39915	N	-0.491366999378692	0.22363	1.193588	-0.328091237671929	0.27195	1.507357	0.999979734531007	0.50053	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.93	4.15	0.47978	0.368000	0.20132	1.082000	0.23901	0.599000	0.40250	0.237000	0.24716	0.686000	0.26148	0.932000	0.46971	0.0:0.8431:0.0:0.1569	9.964	0.40883	943	0.12886	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	934.43	38	chr8	20253333	.	C	T	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.211;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.015;SOR=0.602	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr8	22128966	22128966	G	A	exonic	HR	.	nonsynonymous SNV	HR:NM_005144:exon2:c.C205T:p.P69S,HR:NM_018411:exon2:c.C205T:p.P69S	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	700521	Alopecia_universalis_congenita|Atrichia_with_papular_lesions|not_provided	MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701|MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.250	0.112876543762	0.0032	0.00119808	0.0032	0.0013	0.0010	0	0.0005	0.0051	0.0022	0.0013	0.0033829	523	154602	rs78621054	0.0041	0.0041	0.0040	0.0041	0.0048	0.0040	0.0040	0.0047	0.0047	0.0007	0.0019	0.0049	0	0.0007	0.0014	0.0048	0.0035	0.0012	0.0033	0.0033	0.0034	0.0031	0.0056	0.0030	0.0029	0.0051	0.0049	0.0011	0	0.0018	0.0046	0	0.0008	0	0.0056	0.0057	0.0012	0.002	0.72154	D	0.063	0.46862	T	0.518	0.53479	P	0.197	0.49494	B	0.000399	0.44960	D	0.000000	0.750033	0.29647	N	1.935	0.51832	L	-1.04	0.76819	T	-1.77	0.48523	N	0.143	0.20660	-0.4936	0.68879	T	0.304	0.67519	T	10	0.005213022	0.00113	T	0.112877	0.79118	D	0.250	0.55888	.	.	0.781890309608	0.77987	0.4244157769453769	0.42358	0.182285795037	0.20492	0.338969171047	0.16284	T	0.171531	0.51969	T	-0.406894	0.02085	T	-0.355471	0.38575	T	0.0321359294420155	0.02327	T	0.742826	0.36203	T	0.14140585	0.32585	0.20665391	0.44889	0.12563503	0.29446	0.25754553	0.51472	-4.008	0.23923	T	.	.	0.082	0.13923	B	.;.	.;.	1.192078	0.15836	12.14	0.98610206724257632	0.43625	0.63247	0.32030	D	AEFDGBCI	0.213305	0.33890	N	-0.095966645408073	0.37570	2.187617	-0.0637433459907197	0.36901	2.153549	0.999974625569855	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.8	2.95	0.33285	0.200000	0.17055	2.085000	0.30516	-0.126000	0.13398	0.099000	0.22773	1.000000	0.68203	0.450000	0.27895	0.0964:0.0:0.7207:0.183	6.247	0.20030	589	0.68969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1371.43	36	chr8	22128966	.	G	A	1371.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.366;DP=432;ExcessHet=0;FS=1.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.095;SOR=0.9	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	9	0	1	0
chr8	22600944	22600944	C	G	exonic	C8orf58	.	nonsynonymous SNV	C8orf58:NM_001013842:exon2:c.C103G:p.R35G,C8orf58:NM_001198827:exon2:c.C103G:p.R35G,C8orf58:NM_173686:exon2:c.C103G:p.R35G	.	432	1076	14	0	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	.	0.0051	0.00858626	0.0095	0.0012	0.0063	0.0163	0.0271	0.0079	0.0086	0.0135	0.0086286	1334	154602	rs145988500	0.0074	0.0074	0.0073	0.0074	0.0135	0.0073	0.0072	0.0129	0.0126	0.0008	0.0072	0	0.0113	0.0239	0.0031	0.0064	0.0068	0.0135	0.0071	0.0071	0.0057	0.0086	0.0158	0.0068	0.0066	0.0130	0.0120	0.0016	0	0.0088	0.0003	0.0158	0.0269	0.0068	0.0067	0.0047	0.0106	0.004	0.65419	D	0.024	0.56640	D	0.999	0.77913	D	0.929	0.66367	D	0.016670	0.27917	N	0.167110	0.999482	0.21117	N	1.7	0.43825	L	.	.	.	-5.73	0.87611	D	0.565	0.58883	-0.9390	0.42774	T	0.149	0.47505	T	9	0.0077447295	0.00176	T	.	.	.	0.146	0.38789	.	.	0.404592120364	0.40076	0.24309096872699978	0.24223	0.330562522634	0.35134	.	.	.	0.122361	0.44598	T	-0.335924	0.05676	T	-0.242334	0.50570	T	0.0346385653733951	0.02747	T	0.80342	0.45053	T	0.35063452	0.57117	0.46539184	0.68975	0.35063452	0.57117	0.46539184	0.68975	-3.155	0.11939	T	.	.	0.432	0.64192	A	.;.;.;.	.;.;.;.	3.463884	0.48288	22.6	0.99761314465315776	0.85091	0.56439	0.30117	D	AEFDBCI	0.161302	0.28734	N	0.213981236316017	0.51877	3.365623	0.108185616289891	0.44965	2.76835	0.999982709934131	0.51787	0.493124	0.18060	0	0.611049	0.52481	0	0.26897	0.05253	2	0.627883	0.49187	0	.	.	4.63	2.73	0.31266	0.375000	0.20248	1.705000	0.28157	0.589000	0.31548	0.936000	0.32490	0.962000	0.29361	0.941000	0.48210	0.3722:0.6278:0.0:0.0	9.847	0.40203	885	0.28214	.;.;.;.	.	.	.	.	rs145988500	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.005051	0.001359	0.002941	0.000000	0.000000	0.015337	0.018939	0.05	867.43	42	chr8	22600944	.	C	G	867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.371;DP=448;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=1.28;SOR=0.777	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1216	9	0	1	0
chr8	22618717	22618717	A	T	exonic	CCAR2	.	nonsynonymous SNV	CCAR2:NM_001363068:exon18:c.A2318T:p.E773V,CCAR2:NM_001363069:exon18:c.A2318T:p.E773V,CCAR2:NM_021174:exon18:c.A2321T:p.E774V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0191005616374	0.0002	.	0.0001	0	8.645e-05	0	0	0.0003	0	0	0.0001552	24	154602	rs148552616	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0	8.944e-05	0	0	3.758e-05	0.0002	0.0004	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.243e-05	0.0002	0.0001	7.241e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	0.038	0.49613	D	0.02	0.60337	D	0.567	0.50336	P	0.165	0.50368	B	0.166267	0.17509	N	0.588384	0.886262	0.38770	D	1.525	0.38595	L	7.64	0.00350	T	-2.76	0.67014	D	0.417	0.51761	-0.7137	0.59771	T	0.231	0.59719	T	10	0.22674897	0.39538	T	0.019101	0.41369	T	0.205	0.49236	.	.	0.409859612472	0.40601	0.5529503573762466	0.55221	0.226598177082	0.25209	0.435814201832	0.30004	T	0.434995	0.78188	T	-0.204167	0.20205	T	-0.223631	0.52386	T	0.205322984583608	0.20706	T	0.864713	0.56210	D	0.1321704	0.30785	0.102173455	0.24481	0.1321704	0.30785	0.102173455	0.24480	-7.096	0.54732	T	.	.	0.234	0.52293	B	.;.;.;.	.;.;.;.	3.881232	0.56413	23.7	0.97965287417514091	0.37209	0.94405	0.61061	D	AEFBCI	0.687731	0.64898	D	0.217256695686896	0.52036	3.380369	0.270604539578497	0.53831	3.550179	0.999999832072361	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.97	5.97	0.96935	5.892000	0.69531	11.197000	0.88883	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.075000	0.16954	1.0:0.0:0.0:0.0	12.839	0.57175	901	0.24189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1508.43	33	chr8	22618717	.	A	T	1508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.285;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-1.443;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1312	9	0	1	0
chr8	23007425	23007425	G	A	exonic	RHOBTB2	.	nonsynonymous SNV	RHOBTB2:NM_001160037:exon5:c.G1201A:p.V401M,RHOBTB2:NM_001374791:exon5:c.G1180A:p.V394M,RHOBTB2:NM_015178:exon5:c.G1180A:p.V394M,RHOBTB2:NM_001160036:exon7:c.G1246A:p.V416M	.	435	1078	9	0	0	9	0.00415704	.	.	.	1600843	RHOBTB2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.199	0.0175831749477	0.0004	.	0.0007	0	8.639e-05	0	0	0.0008	0.0011	0.0021	0.000608	94	154602	rs146017675	0.0005	0.0005	0.0004	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	0	2.236e-05	0.0104	2.519e-05	0	0.0021	0.0001	0.0012	0.0022	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0	0	0.0063	0	0	0.0034	0.0001	0.0019	0.0014	0.184	0.21634	T	0.202	0.27414	T	0.619	0.39896	P	0.675	0.53279	P	0.000405	0.44736	D	0.191733	0.989003	0.40869	D	1.15	0.29295	L	-0.25	0.67011	T	-0.5	0.15782	N	0.276	0.36359	-0.4905	0.68991	T	0.331	0.69826	T	10	0.009938806	0.00223	T	0.017583	0.39335	T	0.199	0.48268	.	.	0.570695249167	0.56736	0.4397869780712526	0.43895	0.557296526033	0.52351	0.65321791172	0.60443	T	0.328183	0.69862	T	-0.352977	0.04543	T	-0.285041	0.46286	T	0.086763589009645	0.10830	T	0.952205	0.81731	D	0.045605917	0.07495	0.07011369	0.14857	0.04551959	0.07464	0.076186895	0.16849	-5.035	0.37218	T	0.1870918858929928	0.24379	0.153	0.33913	B	.;.;.	.;.;.	2.784753	0.36587	20.3	0.99888463966361862	0.96281	0.89568	0.50115	D	AEFDBI	0.363131	0.45214	N	0.258930368910378	0.54083	3.57472	0.306696190387311	0.55931	3.756132	0.999999896177258	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	0.474000	0.21858	2.135000	0.30806	-0.126000	0.13398	0.142000	0.23535	1.000000	0.68203	0.997000	0.79791	0.0864:0.0:0.9136:0.0	11.855	0.51706	917	0.20147	.;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.002717	0.008772	0.000000	0.000000	0.006098	0.007576	0.05	1218.43	91	chr8	23007425	.	G	A	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.664;DP=972;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.755;SOR=0.647	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	9	0	1	0
chr8	23258427	23258427	A	G	exonic	CHMP7	.	nonsynonymous SNV	CHMP7:NM_001317899:exon6:c.A608G:p.Y203C,CHMP7:NM_001363183:exon6:c.A938G:p.Y313C,CHMP7:NM_152272:exon7:c.A938G:p.Y313C	.	.	.	.	.	.	.	.	.	.	.	3297150	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.236	0.0365517827049	.	0.000199681	6.602e-05	0	0	0.0005	0	0	0	0.0002	5.82e-05	9	154602	rs558028323	2.941e-05	2.941e-05	2.45e-05	3.438e-05	0.0005	2.216e-05	1.97e-05	0.0003	0.0002	0	0	0	0.0005	0	0	1.079e-05	3.312e-05	0.0001	3.943e-05	3.938e-05	1.286e-05	6.722e-05	0.0008	1.716e-05	1.13e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.05	0.39575	D	0.141	0.33442	T	0.992	0.64738	D	0.869	0.61749	P	0.000056	0.53742	N	0.162013	0.97541	0.39187	D	1.79	0.46772	L	-0.59	0.71543	T	-2.11	0.48020	N	0.414	0.45426	-0.3651	0.73111	T	0.346	0.71067	T	10	0.18570796	0.34004	T	0.036552	0.57066	D	0.236	0.53931	0.503	0.59615	0.442880012019	0.43908	0.4891091085395204	0.48830	1.73630748658	0.90807	0.707989931107	0.68302	T	0.435106	0.78196	T	-0.279773	0.10692	T	-0.276618	0.47150	T	0.164180013747288	0.18175	T	0.879412	0.59551	D	0.47498438	0.65595	0.29636368	0.55668	0.47498438	0.65595	0.29636368	0.55667	-7.84	0.59975	D	.	.	0.284	0.51703	B	.;.	.;.	4.097505	0.61070	24.3	0.99688536786157278	0.79775	0.94423	0.61117	D	AEFDBI	0.516345	0.54292	D	0.00142624224743307	0.41920	2.516205	0.108898131755069	0.45001	2.771294	0.976987742189653	0.29777	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	4.73	0.59485	4.804000	0.62246	8.075000	0.76457	-0.211000	0.08354	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.9089:0.0:0.0911:0.0	8.890	0.34587	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2379.43	37	chr8	23258427	.	A	G	2379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.127;DP=531;ExcessHet=0;FS=3.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-0.077;SOR=0.937	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	9	0	1	0
chr8	23289976	23289976	G	A	exonic	R3HCC1	.	nonsynonymous SNV	R3HCC1:NM_001136108:exon4:c.G359A:p.R120Q	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.025607457089	.	.	7.54e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs760127872	1.806e-05	1.71e-05	1.284e-05	2.343e-05	0.0004	1.24e-05	1.048e-05	6.163e-05	4.355e-05	0	0	0	0	0	0.0004	1.205e-05	1.727e-05	0.0001	2.627e-05	2.626e-05	1.284e-05	4.033e-05	0.0002	8.14e-06	5.14e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0.0002	0.276	0.15717	T	0.113	0.56192	T	.	.	.	.	.	.	0.203383	0.16544	N	0.597558	1	0.81001	D	.	.	.	2.31	0.16794	T	-0.45	0.14782	N	0.141	0.14054	-1.0533	0.13493	T	0.042	0.17952	T	7	0.12228364	0.23195	T	0.025607	0.48570	D	0.046	0.12618	0.328	0.31196	0.0611884634855	0.05136	0.2587906778799977	0.25793	.	.	.	.	.	0.021982	0.17856	T	-0.322062	0.06730	T	-0.463728	0.26195	T	0.0836576297879219	0.10449	T	0.755524	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.17573	B	.;.;.;.;.	.;.;.;.;.	3.251238	0.44425	21.9	0.99787693551847167	0.87396	0.63738	0.32183	D	AEFBCI	0.168590	0.29536	N	0.0593314446779676	0.44572	2.728874	0.0935952576004992	0.44225	2.70844	0.999999778774338	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.71	4.83	0.61880	0.986000	0.29190	2.992000	0.35885	0.674000	0.70861	0.751000	0.29144	0.998000	0.33993	0.415000	0.27117	0.0:0.1538:0.6866:0.1596	9.663	0.39132	641	0.64016	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1933.43	34	chr8	23289976	.	G	A	1933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=459;ExcessHet=0;FS=1.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.544;SOR=0.687	GT:AD:DP:GQ:PL	0/1:63,81:144:99:1945,0,1328	9	0	1	0
chr8	23447844	23447844	T	C	exonic	ENTPD4	.	nonsynonymous SNV	ENTPD4:NM_001128930:exon4:c.A248G:p.N83S,ENTPD4:NM_004901:exon4:c.A248G:p.N83S	.	434	1074	13	1	0	15	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0028	0.00379393	0.0054	0.0008	0.0029	0.0001	0.0302	0.0050	0.0099	0.0041	0.0049158	760	154602	rs142458188	0.0048	0.0048	0.0047	0.0048	0.0068	0.0047	0.0046	0.0051	0.0045	0.0007	0.0047	0.0024	2.519e-05	0.0291	0.0068	0.0040	0.0049	0.0040	0.0051	0.0052	0.0039	0.0064	0.0042	0.0048	0.0047	0.0038	0.0036	0.0005	0	0.0039	0.0020	0	0.0358	0.0102	0.0042	0.0071	0.0025	0.519	0.08286	T	0.725	0.05256	T	0.002	0.09854	B	0.01	0.14941	B	0.000000	0.84330	N	0.117593	0.99542	0.42685	D	-0.805	0.01590	N	2.87	0.10386	T	-0.26	0.12661	N	0.131	0.12627	-0.9673	0.37754	T	0.009	0.03140	T	10	0.0025058389	0.00038	T	.	.	.	0.164	0.42212	.	.	0.223847106136	0.22009	0.1341201395512565	0.13336	0.0755080540532	0.08473	0.349559098482	0.17857	T	0.007928	0.25359	T	-0.706784	0.00033	T	-0.787482	0.02235	T	0.00219053248014786	0.00023	T	0.740726	0.35986	T	0.05279877	0.09900	0.04469123	0.05848	0.05279877	0.09900	0.04469123	0.05847	-2.111	0.04610	T	.	.	0.053	0.00264	B	.;.;.;.	.;.;.;.	1.188987	0.15801	12.11	0.90707489596299118	0.19958	0.36718	0.25598	N	AEFGBCI	0.124364	0.24039	N	-0.630456802520704	0.18033	0.9330396	-0.426323289753255	0.24227	1.325572	0.999986064151588	0.51787	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	3.34	0.37357	0.044000	0.13876	-0.138000	0.11547	0.665000	0.62972	0.181000	0.24076	0.723000	0.26366	0.998000	0.85391	0.0:0.2369:0.0:0.7631	7.595	0.27209	820	0.40914	.;.;.;.	.	.	.	.	rs142458188	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.025862	0.003049	0.003788	0.05	982.43	33	chr8	23447844	.	T	C	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=405;ExcessHet=0;FS=4.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-1.708;SOR=1.145	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr8	24442522	24442522	G	T	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon2:c.G102T:p.K34N	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00536651275596	0.0002	0.000599042	0.0003	0.0003	0.0003	0	0.0003	0.0003	0	0.0003	0.0002458	38	154602	rs146117431	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0046	0.0041	0.0003	0.0005	0	0	0.0002	0.0062	0.0004	0.0007	0.0002	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.542e-05	0	0	9.429e-05	0.0068	0.0004	0.0028	0.0002	0.027	0.63226	D	0.014	0.72224	D	0.922	0.51142	P	0.742	0.55764	P	0.492338	0.12043	N	0.737317	0.999999	0.08975	N	2.655	0.77738	M	3.22	0.07024	T	-3.51	0.68298	D	0.257	0.34767	-1.0768	0.07983	T	0.047	0.20195	T	10	0.05808127	0.06773	T	0.005367	0.13771	T	0.056	0.15993	0.731	0.86460	0.388812400583	0.38497	0.4512355964274962	0.45041	0.306425813064	0.32941	0.399008542299	0.24931	T	0.088831	0.43789	T	-0.53019	0.00383	T	-0.665208	0.07919	T	0.0554332700838893	0.06429	T	0.693931	0.30359	T	0.22774166	0.45480	0.19811907	0.43629	0.22774166	0.45480	0.19811907	0.43628	-5.604	0.53698	T	.	.	0.639	0.70478	P	.;.;.	.;.;.	2.383390	0.30594	18.49	0.99554569252469893	0.71335	0.06663	0.12681	N	AEFI	0.039053	0.05619	N	-0.173834730936027	0.34227	1.951068	-0.404993636500972	0.24850	1.36314	1.5213647629851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.33	1.43	0.21585	0.722000	0.25595	0.691000	0.20763	0.671000	0.69459	0.034000	0.20669	0.120000	0.22892	0.636000	0.32315	0.359:0.0:0.641:0.0	5.864	0.18016	852	0.35056	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.013587	0.005848	0.000000	0.017241	0.003049	0.003788	0.05	1625.43	34	chr8	24442522	.	G	T	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.703;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.238;SOR=0.75	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1236	9	0	1	0
chr8	24487298	24487298	G	A	exonic	ADAM7	.	nonsynonymous SNV	ADAM7:NM_003817:exon11:c.G1072A:p.V358M	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	.	0.0021	0.00339457	0.0035	0.0010	0.0009	0.0001	0	0.0021	0.0090	0.0156	0.0032082	496	154602	rs146451180	0.0022	0.0022	0.0018	0.0027	0.0147	0.0022	0.0021	0.0140	0.0137	0.0006	0.0009	0.0167	5.047e-05	0.0001	0.0049	0.0011	0.0030	0.0147	0.0018	0.0018	0.0019	0.0018	0.0116	0.0016	0.0016	0.0092	0.0083	0.0004	0.0241	0.0014	0.0164	0	9.423e-05	0	0.0015	0.0009	0.0116	0.001	0.78490	D	0.013	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000116	0.50451	D	0.000000	0.686517	0.33284	D	2.76	0.80626	M	1.2	0.37405	T	-2.62	0.56301	D	0.556	0.59053	-0.4504	0.70387	T	0.209	0.56919	T	10	0.02094379	0.00491	T	.	.	.	0.375	0.69358	.	.	0.499600832404	0.49597	0.568154708648565	0.56743	0.326478743079	0.34795	0.443017482758	0.30989	T	0.150486	0.53808	T	-0.275253	0.11178	T	-0.155834	0.58725	T	0.0421441278106139	0.04081	T	0.825817	0.49436	T	0.4280553	0.62625	0.4565036	0.68410	0.4280553	0.62625	0.4565036	0.68411	-7.13	0.54977	T	.	.	0.522	0.65572	A	.;.;.	.;.;.	4.097909	0.61082	24.3	0.99839643137124845	0.92057	0.68716	0.33908	D	AEFBI	0.221389	0.34602	N	0.565985022323194	0.71060	5.593979	0.476841170874036	0.66459	4.95475	0.00263009463315016	0.09584	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	2.952000	0.48790	6.057000	0.53139	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.733000	0.35199	0.0973:0.0:0.9027:0.0	9.477	0.38040	866	0.32446	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type;Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin|Reprolysin domain, adamalysin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.000000	0.002924	0.000000	0.017241	0.024390	0.007576	0.05	1639.43	33	chr8	24487298	.	G	A	1639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=435;ExcessHet=0;FS=3.234;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-1.326;SOR=1.046	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1038	9	0	1	0
chr8	25351809	25351809	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon27:c.C2833T:p.R945W	.	433	1081	8	0	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	.	0.00419329	0.0026	0.0001	9.195e-05	0.0002	0	4.696e-05	0.0048	0.0191	0.0021733	336	154602	rs552784556	0.0011	0.0011	0.0006	0.0016	0.0163	0.0010	0.0010	0.0156	0.0153	0.0001	4.474e-05	0	0.0003	0	0.0007	7.286e-05	0.0010	0.0163	0.0007	0.0008	0.0004	0.0011	0.0212	0.0006	0.0006	0.0178	0.0166	9.626e-05	0	0	0	0.0004	0	0.0034	5.88e-05	0.0005	0.0212	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	0.000008	0.62929	D	0.060730	0.968324	0.38652	D	3.03	0.86425	M	3.75	0.03922	T	-6.6	0.92042	D	0.791	0.78737	-1.0361	0.18513	T	0.059	0.24539	T	10	0.008698851	0.00197	T	.	.	.	0.271	0.58633	.	.	0.324161360171	0.32030	0.7084678063372813	0.70788	0.297587418511	0.32142	0.473249644041	0.35128	T	0.620639	0.88104	D	-0.214226	0.18789	T	-0.0662175	0.65895	T	0.182252707481637	0.19376	T	0.973153	0.90356	D	0.697339	0.77911	0.5270562	0.72675	0.697339	0.77913	0.5270562	0.72675	-7.962	0.60810	D	.	.	0.286	0.51849	B	.	.	5.230933	0.87800	29.4	0.99908106056020174	0.97801	0.87624	0.47224	D	AEFDBI	0.693319	0.65269	D	0.610523646705695	0.73838	6.032208	0.550097528564711	0.71403	5.649702	0.999773063521254	0.42865	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.98	4.06	0.46572	1.121000	0.30897	2.152000	0.30918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.3607:0.6393:0.0:0.0	15.543	0.75808	450	0.79359	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.015152	0.05	1249.43	33	chr8	25351809	.	C	T	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=448;ExcessHet=0;FS=0.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=1.15;SOR=0.827	GT:AD:DP:GQ:PL	0/1:70,53:123:99:1261,0,1589	9	0	1	0
chr8	25389218	25389218	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon41:c.C4259T:p.S1420L	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.00698882	0.0039	0	0.0003	0	0	0.0001	0.0044	0.0278	0.0033893	524	154602	rs538914889	0.0017	0.0017	0.0010	0.0025	0.0277	0.0017	0.0017	0.0268	0.0264	8.961e-05	2.236e-05	0	0	9.363e-05	0.0016	2.788e-05	0.0017	0.0277	0.0010	0.0010	0.0005	0.0015	0.0304	0.0008	0.0008	0.0264	0.0249	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0304	0.058	0.37750	T	0.009	0.66756	D	0.005	0.12996	B	0.006	0.12133	B	0.669527	0.06028	N	1.148490	0.999996	0.08975	N	0.55	0.14455	N	3.77	0.03863	T	-3.32	0.66085	D	0.258	0.29197	-1.0021	0.29313	T	0.024	0.10013	T	10	0.004555881	0.00094	T	.	.	.	0.021	0.04004	.	.	0.148003135375	0.14442	0.16687287872706508	0.16607	0.0505951659452	0.05561	0.286010652781	0.08344	T	0.246798	0.61633	T	-0.57726	0.00200	T	-0.581699	0.14394	T	0.0665124168830825	0.08153	T	0.665133	0.27420	T	0.11612959	0.27394	0.15259407	0.35895	0.11612959	0.27394	0.15259407	0.35894	-6.962	0.53756	T	.	.	0.064	0.01786	B	.	.	1.586886	0.20298	14.68	0.98989223608187826	0.49902	0.11341	0.16569	N	AEFBI	0.114772	0.22594	N	-0.625462872691812	0.18183	0.9419051	-0.696320076719439	0.17053	0.9049724	0.218749099442898	0.18330	0.615465	0.37627	0	0.588066	0.40923	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.21	2.39	0.28492	0.040000	0.13791	1.321000	0.25603	0.599000	0.40250	0.000000	0.06391	0.112000	0.22806	0.585000	0.31016	0.264:0.5156:0.1475:0.0728	4.614	0.11805	472	0.77968	Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	753.43	33	chr8	25389218	.	C	T	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=395;ExcessHet=0;FS=8.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=2.15;SOR=0.22	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1061	9	0	1	0
chr8	26748708	26748709	AT	-	exonic	ADRA1A	.	frameshift deletion	ADRA1A:NM_001322503:exon2:c.923_924del:p.H308Rfs*56,ADRA1A:NM_033303:exon3:c.1309_1310del:p.M437Dfs*63	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.52e-06	1.59e-06	1.088e-05	0	7.905e-06	0	0	.	.	0	0	0	0	0	0	7.905e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.43	2	chr8	26748707	.	CAT	C	64.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,28:.	6	0	1	3
chr8	26748710	26748710	-	CA	exonic	ADRA1A	.	frameshift insertion	ADRA1A:NM_001322503:exon2:c.921_922insTG:p.H308Cfs*41,ADRA1A:NM_033303:exon3:c.1307_1308insTG:p.M437Afs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.509e-06	1.59e-06	1.085e-05	0	7.868e-06	0	0	.	.	0	0	0	0	0	0	7.868e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	63.68	2	chr8	26748710	.	G	GCA	63.68	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=19;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,28:.	7	0	1	2
chr8	26748717	26748717	C	G	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_033303:exon3:c.G1301C:p.C434S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00197675382382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.728980	0.09871	U	0.840223	1	0.08975	N	.	.	.	2.06	0.20523	T	0.09	0.05917	N	0.301	0.34012	-1.0266	0.21560	T	0.137	0.45394	T	9	0.21906385	0.38565	T	0.001977	0.03562	T	0.046	0.12618	0.409	0.44395	0.399449838166	0.39556	0.23749853786041586	0.23664	0.502847730208	0.48636	.	.	.	.	.	.	-0.31238	0.07540	T	-0.686489	0.06595	T	0.490291565656662	0.32275	T	0.674133	0.28269	T	.	.	.	.	.	.	.	.	-1.705	0.02242	T	.	.	0.123	0.25624	B	.	.	1.512122	0.19427	14.26	0.57861550352353275	0.05863	0.02203	0.06427	N	AEFI	0.031700	0.03440	N	-0.285243943381978	0.29718	1.650495	-0.637772627421611	0.18526	0.9900486	1.37635107782196E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.487	0.487	0.16050	0.794000	0.26619	0.416000	0.18166	0.236000	0.18198	0.004000	0.16614	0.003000	0.18671	0.007000	0.07825	.	.	.	826	0.39940	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.57	2	chr8	26748717	.	C	G	64.57	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=19;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,28:.	6	0	1	3
chr8	26748718	26748718	A	C	exonic	ADRA1A	.	nonsynonymous SNV	ADRA1A:NM_001322503:exon2:c.T914G:p.V305G,ADRA1A:NM_033303:exon3:c.T1300G:p.C434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00235628752187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.728980	0.09871	U	0.840223	1	0.08975	N	.	.	.	2.01	0.21291	T	-0.27	0.11366	N	0.321	0.36148	-0.8664	0.50798	T	0.199	0.55513	T	9	0.15756199	0.29649	T	0.002356	0.04562	T	0.049	0.13647	0.388	0.40951	0.208816687407	0.20498	0.26738193052441506	0.26651	0.69644798922	0.60850	.	.	.	.	.	.	-0.269967	0.11761	T	-0.625565	0.10753	T	0.7047438621521	0.40945	D	0.60444	0.22695	T	.	.	.	.	.	.	.	.	-2.104	0.03601	T	.	.	0.082	0.08899	B	.	.	1.794595	0.22813	15.77	0.60114856155333707	0.06385	0.02771	0.07470	N	AEFI	0.049250	0.08489	N	-0.915358500522752	0.10482	0.5011317	-1.09292542630594	0.07838	0.3829099	1.32337960159583E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.487	0.487	0.16050	0.914000	0.28246	-0.094000	0.12022	0.289000	0.18753	0.003000	0.16062	0.000000	0.08366	0.006000	0.07323	.	.	.	826	0.39940	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	64.49	2	chr8	26748718	.	A	C	64.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,28:.	6	0	1	3
chr8	26748727	26748727	-	G	exonic	ADRA1A	.	frameshift insertion	ADRA1A:NM_001322503:exon2:c.904dupC:p.Q302Pfs*8,ADRA1A:NM_033303:exon3:c.1290dupC:p.R431Qfs*70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	4.491e-06	6.361e-06	0	7.672e-06	2.183e-05	0	0	.	.	0	0	0	0	0	0	0	0	2.183e-05	0	1.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	64.43	2	chr8	26748727	.	T	TG	64.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.842;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-1.282;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	6	0	1	3
chr8	27289271	27289271	G	A	exonic	TRIM35	.	nonsynonymous SNV	TRIM35:NM_001304495:exon3:c.C676T:p.H226Y,TRIM35:NM_001362813:exon4:c.C772T:p.H258Y	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0197493238184	0.0005	0.000798722	0.0001	0.0012	8.676e-05	0	0	6.007e-05	0	0	0.0001682	26	154602	rs112470372	0.0001	0.0001	0.0001	0.0001	0.0022	0.0001	9.569e-05	0.0018	0.0016	0.0022	8.946e-05	0	0	0	0.0007	6.476e-05	0.0003	0	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0017	0.0016	0.0021	0	0.0004	0	0	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.021	0.58089	D	0.013	0.16609	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	.	.	.	-0.13	0.64818	T	0.43	0.03297	N	0.32	0.36043	-0.9432	0.42105	T	0.165	0.50340	T	8	0.01551643	0.00326	T	0.019749	0.42191	T	0.040	0.10527	.	.	0.661975707287	0.65914	.	.	.	.	.	.	.	0.007717	0.07108	T	-0.215641	0.18591	T	-0.088387	0.64283	T	0.211772441864014	0.21046	T	0.352165	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24733	B	.	.	0.680609	0.10493	7.206	0.98198645318278277	0.39097	0.92481	0.55812	D	AEFDBI	0.034371	0.04245	N	-0.104113181267482	0.37213	2.161838	0.0632015068175121	0.42715	2.588455	0.997167364875065	0.35335	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.07	0.68106	1.130000	0.31007	0.899000	0.22534	-0.113000	0.14837	1.000000	0.71638	0.999000	0.35428	0.481000	0.28588	0.0856:0.0:0.9144:0.0	10.984	0.46727	626	0.65439	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.015152	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1215.43	36	chr8	27289271	.	G	A	1215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=407;ExcessHet=0;FS=2.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-1.324;SOR=1.092	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1280	9	0	1	0
chr8	27463370	27463370	C	A	exonic	CHRNA2	.	nonsynonymous SNV	CHRNA2:NM_000742:exon6:c.G1073T:p.S358I,CHRNA2:NM_001282455:exon6:c.G1028T:p.S343I,CHRNA2:NM_001347705:exon6:c.G596T:p.S199I,CHRNA2:NM_001347706:exon6:c.G596T:p.S199I,CHRNA2:NM_001347708:exon6:c.G479T:p.S160I,CHRNA2:NM_001347707:exon7:c.G479T:p.S160I	Epilepsy, nocturnal frontal lobe, type 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	202235	Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_4|not_specified|not_provided	MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MONDO:MONDO:0012474,MedGen:C1835905,OMIM:610353,Orphanet:98784|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.546	0.140698798942	.	.	9.095e-05	0	8.66e-05	0.0002	0	0	0	0.0005	7.12e-05	11	154602	rs74341575	4.378e-05	4.378e-05	2.723e-05	6.051e-05	0.0006	3.509e-05	3.193e-05	0.0004	0.0003	0	0	0	0.0006	0	0	5.396e-06	8.279e-05	0.0003	5.911e-05	5.906e-05	6.425e-05	5.373e-05	0.0006	3.076e-05	2.209e-05	0.0002	8.414e-05	0	0	0	0	0.0006	0	0	5.881e-05	0	0.0004	0.004	0.65419	D	0.009	0.66756	D	0.452	0.36118	B	0.679	0.53442	P	0.000276	0.46590	D	0.295319	0.999549	0.48716	D	3.29	0.90338	M	-2.12	0.86283	D	-3.61	0.71042	D	0.363	0.41360	0.676	0.92869	D	0.778	0.92467	D	10	0.3054665	0.48063	T	0.140699	0.82314	D	0.546	0.81135	0.441	0.49648	0.915446317744	0.91459	0.557376161287237	0.55664	0.676354662105	0.59757	0.458120107651	0.33052	T	0.775888	0.94040	D	-0.188186	0.22526	T	-0.178092	0.56698	T	0.760027408599854	0.43853	D	0.80432	0.45191	T	0.64379066	0.75033	0.407507	0.65094	0.64379066	0.75034	0.407507	0.65094	-6.466	0.50831	T	0.2759916395233664	0.37049	0.199	0.42273	B	.;.;.	.;.;.	3.796277	0.54670	23.5	0.99561516196764821	0.71831	0.88285	0.48144	D	AEFDGBCI	0.649465	0.62392	D	0.403156937879858	0.61596	4.362826	0.378582132755272	0.60247	4.210119	0.999976566316178	0.50053	0.497415	0.19182	0	0.514364	0.08380	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.88	4.0	0.45673	4.075000	0.57305	3.973000	0.40841	0.520000	0.23804	0.999000	0.42656	0.999000	0.35428	0.996000	0.76049	0.0:0.9091:0.0:0.0909	11.046	0.47074	873	0.30802	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3416.43	34	chr8	27463370	.	C	A	3416.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.799;DP=600;ExcessHet=0;FS=1.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.574;SOR=0.787	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1276	9	0	1	0
chr8	27752572	27752572	C	G	exonic	CCDC25	.	nonsynonymous SNV	CCDC25:NM_001304529:exon5:c.G184C:p.D62H,CCDC25:NM_018246:exon5:c.G184C:p.D62H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.038608744221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.547e-05	0.0001	2.33e-05	2.766e-05	9.022e-05	1.879e-05	1.641e-05	2.391e-05	1.795e-05	9.022e-05	0	3.837e-05	0	0	0	2.899e-05	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.13	0.88074	M	.	.	.	-5.63	0.86836	D	0.853	0.84922	0.028	0.82819	D	0.473	0.79732	T	9	0.8197929	0.81191	D	0.038609	0.58323	D	0.614	0.84932	0.55	0.66576	0.460795861206	0.45704	0.7015162019112378	0.70092	1.51491552847	0.87300	0.722615897655	0.70428	T	0.129824	0.45833	T	0.270073	0.80448	D	0.150165	0.80195	D	0.997151553630829	0.90894	D	0.961604	0.88140	D	0.72886264	0.79660	0.68237287	0.81331	0.72886264	0.79661	0.68237287	0.81332	-10.727	0.78140	D	.	.	0.318	0.54390	B	.;.	.;.	5.579871	0.92292	32	0.9959362337452432	0.73748	0.98767	0.86589	D	AEFGBI	0.922896	0.89857	D	0.859233201530184	0.89628	10.05	0.816114730825622	0.90890	10.61762	0.999999999304192	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.462000	0.79890	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.507	0.84122	793	0.45818	Domain of unknown function DUF814;Domain of unknown function DUF814	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	65.44	98	chr8	27752572	.	C	G	65.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.385;DP=702;ExcessHet=0;FS=371.077;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=0.91;SOR=8.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	9	0	1	0
chr8	28068331	28068331	T	C	exonic	NUGGC	.	nonsynonymous SNV	NUGGC:NM_001010906:exon5:c.A365G:p.Q122R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0472481721105	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390323579	9.908e-06	9.577e-06	8.391e-06	1.146e-05	0.0010	5.75e-06	4.5e-06	0.0004	0.0002	0	0	0	0	0	0.0010	1.841e-06	0.0001	1.251e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	.	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0032	0	0.0010	0	0.352	0.12226	T	0.569	0.08839	T	0.001	0.07471	B	0.004	0.10090	B	0.227167	0.16003	N	0.584437	0.996086	0.23119	N	1.1	0.28011	L	-3.67	0.95247	D	-1.52	0.36980	N	0.119	0.10911	-0.2789	0.75571	T	0.633	0.87139	D	10	0.13739082	0.26134	T	0.047248	0.62833	D	0.222	0.51872	0.365	0.37199	0.629698297941	0.62667	0.4325941464345153	0.43176	0.101844781819	0.11526	0.312389314175	0.12267	T	0.242888	0.61171	T	0.0277093	0.55417	T	-0.197974	0.54839	T	0.0880817845463753	0.10988	T	0.508249	0.16142	T	0.20864348	0.43107	0.16944228	0.38978	0.20864348	0.43107	0.16944228	0.38978	-2.811	0.08285	T	.	.	0.075	0.05491	B	.	.	2.339168	0.29972	18.29	0.98801406165835359	0.46461	0.71367	0.34983	D	AEFBI	0.205080	0.33146	N	-0.356492140565923	0.27035	1.480101	-0.184904639387168	0.32090	1.822314	0.9974780085545	0.35657	0.625279	0.40028	0	0.60822	0.50512	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.68	3.22	0.36041	1.975000	0.40192	1.978000	0.30020	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.1704:0.0:0.8296	7.661	0.27571	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1258.43	112	chr8	28068331	.	T	C	1258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.794;DP=443;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=1.85;SOR=0.837	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	9	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	808.82	36	chr8	28527857	.	A	C	808.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.38;DP=1118;ExcessHet=0.2348;FS=452.524;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=2.9;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,27:153:99:0|1:28527847_G_T:226,0,2351:28527847	3	0	2	5
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	89.54	88	chr8	28780872	.	G	C	89.54	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.73;DP=850;ExcessHet=0.7463;FS=181.973;InbreedingCoeff=-0.1741;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=-0.401;SOR=10.087	GT:AD:DP:GQ:PL	0/1:73,18:98:40:40,0,1341	7	0	3	0
chr8	28812371	28812371	C	G	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon7:c.G637C:p.V213L,INTS9:NM_001172562:exon8:c.G628C:p.V210L,INTS9:NM_001363038:exon8:c.G700C:p.V234L,INTS9:NM_018250:exon8:c.G700C:p.V234L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0113803328716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.149	0.32891	T	0.046	0.21875	B	0.034	0.22546	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.97	0.24054	L	0.74	0.50721	T	-1.43	0.35194	N	0.854	0.85027	-1.0240	0.22410	T	0.139	0.45734	T	10	0.60907257	0.67341	D	0.01138	0.28946	T	0.196	0.47777	0.484	0.56621	0.54665026281	0.54320	0.6098900044130657	0.60920	0.54724789338	0.51696	0.771286189556	0.77617	T	0.07447	0.34946	T	0.115373	0.65904	D	-0.0720512	0.65480	T	0.659233002662646	0.38862	D	0.950905	0.81262	D	0.34427643	0.56617	0.30897677	0.56914	0.34427643	0.56617	0.30897677	0.56913	-6.466	0.50023	T	.	.	0.467	0.64362	A	.;.;.	.;.;.	3.239572	0.44214	21.9	0.99673989217237957	0.78782	0.98931	0.88793	D	AEFBI	0.914418	0.87776	D	0.16512420919917	0.49530	3.152377	0.357322750584708	0.58950	4.068954	0.999999999999777	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	7.905000	0.86479	4.889000	0.45745	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	20.274	0.98485	460	0.78750	Metallo-beta-lactamase;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	448.43	33	chr8	28812371	.	C	G	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.151;DP=363;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-2.203;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,945	9	0	1	0
chr8	30138668	30138668	C	T	exonic	MBOAT4	.	nonsynonymous SNV	MBOAT4:NM_001100916:exon2:c.G208A:p.A70T	.	399	1115	7	1	0	9	0.00401965	.	.	.	2343134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.022	0.00988486693314	.	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0005	7.76e-05	12	154602	rs140611326	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0011	0.0009	3.166e-05	0.0003	0	5.597e-05	0	0.0020	0.0002	0.0006	0.0009	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0001	0.0004	0.0003	2.404e-05	0	0.0002	0	0.0004	0	0	0.0003	0	0.0010	0.536	0.06891	T	0.035	0.52389	D	0.008	0.14655	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.0	0.21473	T	-0.77	0.21429	N	0.071	0.04426	-0.9866	0.33445	T	0.025	0.10553	T	8	0.016070753	0.00338	T	0.009885	0.25743	T	0.022	0.04323	.	.	0.259761712551	0.25597	0.05550857490642651	0.05491	.	.	0.357490837574	0.19020	T	0.046899	0.27563	T	-0.59457	0.00157	T	-0.732151	0.04231	T	0.00242045335812812	0.00025	T	0.356464	0.08103	T	0.023786988	0.01148	0.0514782	0.08293	0.023786988	0.01148	0.0514782	0.08292	-4.342	0.28761	T	.	.	0.074	0.05231	B	.	.	-0.404907	0.02194	0.218	0.75288118324513909	0.11017	0.01933	0.05892	N	AEFDBI	0.038420	0.05435	N	-1.63626779289465	0.01094	0.0474943	-1.68882355205312	0.01187	0.0534474	0.999998776367226	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.44	-5.04	0.02742	-0.012000	0.12637	-3.978000	0.02415	-2.803000	0.00184	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.3006:0.2561:0.0:0.4434	5.121	0.14195	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007128	0.006250	0.008403	0.000000	0.000000	0.000000	0.005263	0.000000	0.05	2233.43	114	chr8	30138668	.	C	T	2233.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=986;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=0.127;SOR=0.775	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	9	0	1	0
chr8	30653495	30653497	GAT	-	exonic	GTF2E2	.	nonframeshift deletion	GTF2E2:NM_001348353:exon2:c.102_104del:p.S36del,GTF2E2:NM_002095:exon2:c.102_104del:p.S36del	Trichothiodystrophy 6, nonphotosensitive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1007971	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0228	.	4.119e-05	0	0	0	0	7.493e-05	0	0	3.23e-05	5	154602	rs572162637	4.518e-05	0.0002	4.223e-05	4.815e-05	0.0003	3.643e-05	3.323e-05	6.096e-05	3.828e-05	2.99e-05	6.711e-05	0	0	0	0.0003	5.309e-05	1.657e-05	0	5.917e-05	5.911e-05	8.996e-05	2.693e-05	0.0001	3.079e-05	2.211e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2045.39	137	chr8	30653494	.	CGAT	C	2045.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=457;ExcessHet=0;FS=4.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.31;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr8	31058542	31058542	A	G	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon2:c.A95G:p.K32R	Werner syndrome, Autosomal recessive	4	1513	5	0	0	5	0.00164962	0.9915	0.7	YES	139162	Werner_syndrome|not_specified|not_provided	MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0156390117289	0.0030	0.00119808	0.0037	0.0010	0.0016	0	0.0006	0.0060	0	0.0009	0.0006727	104	154602	rs34477820	0.0039	0.0040	0.0039	0.0040	0.0048	0.0039	0.0038	0.0047	0.0046	0.0007	0.0018	0.0003	5.048e-05	0.0013	0.0012	0.0048	0.0031	0.0009	0.0030	0.0030	0.0035	0.0025	0.0054	0.0028	0.0027	0.0050	0.0048	0.0008	0	0.0027	0.0009	0	0.0005	0.0068	0.0054	0.0019	0.0002	0.017	0.51248	D	0.02	0.58613	D	0.704	0.41950	P	0.277	0.40197	B	0.023392	0.26452	N	0.299988	0.991981	0.23953	N	2.36	0.67893	M	0.59	0.53943	T	-1.58	0.38151	N	0.208	0.23125	-0.9045	0.47504	T	0.152	0.48032	T	10	0.0048146844	0.00102	T	0.015639	0.36485	T	0.105	0.29889	.	.	0.749798479323	0.74753	0.5153133627811298	0.51454	0.27939505312	0.30432	0.373518764973	0.21335	T	0.296694	0.66932	T	-0.439409	0.01304	T	-0.401484	0.33211	T	0.0308317523910558	0.02119	T	0.693931	0.30359	T	0.10012978	0.23639	0.1253447	0.30204	0.10012978	0.23639	0.1253447	0.30203	-4.32	0.28457	T	.	.	0.086	0.10642	B	.	.	4.401468	0.68008	25.2	0.99827197569984416	0.90939	0.98093	0.79538	D	AEFBI	0.390853	0.46952	N	0.155038185658775	0.49051	3.109867	0.149972573789508	0.47139	2.948793	0.999651471211587	0.41424	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.87	3.68	0.41359	5.788000	0.68670	7.800000	0.69123	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.8395:0.0:0.0:0.1605	9.727	0.39508	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	1271.43	33	chr8	31058542	.	A	G	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.005;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.75;SOR=0.629	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1073	9	0	1	0
chr8	31081176	31081176	G	T	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon9:c.G1149T:p.L383F	Werner syndrome, Autosomal recessive	1	1489	32	0	0	32	0.0106312	.	.	.	139191	Inborn_genetic_diseases|not_provided|not_specified|Werner_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.00724604985301	0.0019	0.000399361	0.0019	0.0003	0.0009	0	0	0.0030	0.0044	0.0010	0.0017917	277	154602	rs4987238	0.0021	0.0021	0.0020	0.0022	0.0276	0.0020	0.0020	0.0241	0.0227	0.0004	0.0013	0.0192	0	1.872e-05	0.0276	0.0018	0.0036	0.0009	0.0015	0.0015	0.0016	0.0014	0.0018	0.0013	0.0013	0.0016	0.0015	0.0003	0	0.0010	0.0179	0	0	0.0136	0.0018	0.0033	0.0012	0.311	0.13971	T	0.707	0.05582	T	0.032	0.20242	B	0.007	0.12992	B	0.874172	0.07195	N	1.060040	1	0.08975	N	1.385	0.34509	L	0.83	0.47815	T	-0.78	0.21644	N	0.025	0.00485	-0.9838	0.34116	T	0.106	0.38685	T	10	0.0043698847	0.00089	T	0.007246	0.19225	T	0.072	0.21020	0.213	0.13210	0.491387584038	0.48772	0.04588990669380515	0.04532	0.0753959073124	0.08455	0.262398391962	0.05179	T	0.095818	0.39698	T	-0.623942	0.00104	T	-0.674883	0.07299	T	0.00495090852810378	0.00053	T	0.770523	0.40040	T	0.034200236	0.03792	0.045732096	0.06218	0.034200236	0.03791	0.045732096	0.06217	-4.593	0.32083	T	.	.	0.080	0.07697	B	.	.	0.499331	0.08683	5.456	0.93749542811801623	0.23689	0.03937	0.09332	N	AEFGBI	0.030105	0.02966	N	-0.772016437860401	0.14043	0.696366	-0.793203896759729	0.14662	0.7672316	0.597838118475806	0.21700	0.732398	0.92422	0	0.709663	0.81188	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	2.78	0.31702	0.233000	0.17689	1.304000	0.25494	0.676000	0.76740	0.000000	0.06391	0.030000	0.21233	0.268000	0.23719	0.2133:0.2196:0.4176:0.1494	1.311	0.01970	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020645	0.015152	0.020380	0.038012	0.000000	0.017241	0.018293	0.007576	0.05	2368.43	177	chr8	31081176	.	G	T	2368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.932;DP=502;ExcessHet=0;FS=1.165;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.83;SOR=0.795	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	9	0	1	0
chr8	31141445	31141445	G	A	exonic	WRN	.	nonsynonymous SNV	WRN:NM_000553:exon25:c.G2983A:p.A995T	Werner syndrome, Autosomal recessive	1	1484	36	1	0	38	0.0126414	.	.	.	139167	Inborn_genetic_diseases|not_provided|Werner_syndrome|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010196,MedGen:C0043119,OMIM:277700,Orphanet:902|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	0.0142841589723	0.0021	0.000798722	0.0022	0.0004	0.0010	0	0.0003	0.0034	0.0044	0.0012	0.0021022	325	154602	rs140768346	0.0026	0.0026	0.0025	0.0027	0.0295	0.0026	0.0025	0.0259	0.0245	0.0005	0.0015	0.0192	0	5.619e-05	0.0295	0.0025	0.0041	0.0011	0.0019	0.0019	0.0020	0.0019	0.0025	0.0018	0.0017	0.0022	0.0021	0.0004	0	0.0014	0.0179	0	0.0003	0.0204	0.0025	0.0028	0.0019	0.324	0.13392	T	0.304	0.20100	T	0.017	0.17573	B	0.058	0.26451	B	0.252354	0.15483	N	0.630262	0.999545	0.21009	N	0.795	0.19620	N	1.53	0.30401	T	-0.25	0.11008	N	0.2	0.22098	-1.0227	0.22834	T	0.063	0.26065	T	10	0.0060808063	0.00137	T	0.014284	0.34290	T	0.066	0.19193	.	.	0.299770980665	0.29595	0.23676757135110346	0.23591	0.238658711535	0.26417	0.226337969303	0.01708	T	0.048457	0.28023	T	-0.6166	0.00115	T	-0.662158	0.08121	T	0.0372142826529824	0.03193	T	0.90001	0.65253	D	0.11089363	0.26208	0.12198463	0.29427	0.11089363	0.26208	0.12198463	0.29426	-5.791	0.44496	T	.	.	0.100	0.16973	B	.	.	1.828253	0.23228	15.94	0.90964001631862723	0.20213	0.27327	0.23246	N	AEFBI	0.074469	0.14928	N	-0.965281582660989	0.09353	0.4422917	-0.971277882023538	0.10434	0.5254635	1.80461950712907E-4	0.05786	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.32	-2.44	0.06126	0.213000	0.17310	0.013000	0.13471	0.618000	0.50648	0.330000	0.25589	0.000000	0.08366	0.837000	0.39485	0.0:0.8642:0.1358:0.0	25.334	0.99994	948	0.11499	RQC domain|RQC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.022155	0.010101	0.020380	0.040936	0.000000	0.034483	0.015244	0.011364	0.05	1059.43	68	chr8	31141445	.	G	A	1059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.657;DP=378;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.086;SOR=0.89	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	9	0	1	0
chr8	33453419	33453419	T	C	exonic	FUT10	.	nonsynonymous SNV	FUT10:NM_032664:exon3:c.A173G:p.H58R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00729284643867	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1028719579	2.052e-06	2.052e-06	2.723e-06	1.375e-06	6.708e-05	5.5e-07	1.5e-07	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.29029	T	0.072	0.49942	T	0.0	0.02946	B	0.001	0.04355	B	0.307822	0.03995	N	1.452640	1	0.21869	N	1.5	0.37844	L	1.27	0.36146	T	-0.95	0.25332	N	0.072	0.04547	-1.0276	0.21233	T	0.082	0.32178	T	10	0.19698828	0.35613	T	0.007293	0.19334	T	0.019	0.03383	0.365	0.37199	0.298056030225	0.29408	0.5068301163600082	0.50605	0.0282005231071	0.02900	0.25351113081	0.04147	T	0.004119	0.03532	T	-0.358963	0.04188	T	-0.577555	0.14764	T	0.025062521317496	0.01281	T	0.423058	0.11286	T	0.024207538	0.01230	0.031080758	0.01648	0.024207538	0.01230	0.031080758	0.01647	-2.958	0.09736	T	.	.	0.060	0.01011	B	.;.;.	.;.;.	-0.010153	0.04214	1.030	0.61292250595879394	0.06672	0.13785	0.18050	N	AEFBI	0.043299	0.06827	N	-1.00769928087774	0.08442	0.3958927	-1.00508559066594	0.09673	0.4826195	0.0032971046349233	0.10040	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	2.2	0.26966	1.102000	0.30662	-0.840000	0.07221	-0.127000	0.13314	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.2378:0.0:0.7622	8.080	0.29901	826	0.39940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	648.43	33	chr8	33453419	.	T	C	648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.693;DP=385;ExcessHet=0;FS=3.191;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.228;SOR=0.54	GT:AD:DP:GQ:PL	0/1:42,29:71:99:660,0,1175	9	0	1	0
chr8	33496718	33496720	GAT	-	exonic	MAK16	.	nonframeshift deletion	MAK16:NM_032509:exon8:c.616_618del:p.D211del	.	0	204	20	0	2	22	0.046729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	.	0.0047	0.0014	0.0012	0.0001	0.0031	0.0070	0.0026	0.0030	0.0008837	23	26028	rs770037838	0.0062	0.0067	0.0061	0.0062	0.0071	0.0060	0.0060	0.0070	0.0069	0.0009	0.0024	0.0103	0.0002	0.0017	0.0038	0.0071	0.0048	0.0029	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0012	0.0164	0.0030	0.0104	0.0004	0.0008	0.0102	0.0067	0.0019	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2000.09	35	chr8	33496717	.	AGAT	A	2000.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.238;DP=535;ExcessHet=0.2348;FS=4.452;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.29;SOR=0.45	GT:AD:DP:GQ:PL	0/0:55,0:86:99:432,597,2747	9	0	1	0
chr8	33592032	33592032	C	T	exonic	DUSP26	.	nonsynonymous SNV	DUSP26:NM_001305116:exon3:c.G617A:p.R206Q,DUSP26:NM_001305115:exon4:c.G617A:p.R206Q,DUSP26:NM_024025:exon4:c.G617A:p.R206Q	.	423	1079	20	0	0	20	0.00918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0042	0.00299521	0.0078	0.0008	0.0237	0.0017	0.0083	0.0064	0.0111	0.0096	0.007128	1102	154602	rs144929688	0.0064	0.0064	0.0062	0.0065	0.0187	0.0062	0.0062	0.0176	0.0172	0.0007	0.0187	0.0018	0.0015	0.0094	0.0044	0.0059	0.0052	0.0105	0.0058	0.0058	0.0050	0.0066	0.0140	0.0055	0.0053	0.0125	0.0119	0.0014	0.0143	0.0140	0.0020	0.0037	0.0085	0.0102	0.0063	0.0028	0.0085	0.245	0.17410	T	0.524	0.10317	T	0.995	0.67487	D	0.846	0.60472	P	0.009268	0.30438	N	0.302728	0.998217	0.44638	D	0.415	0.12483	N	0.16	0.60610	T	-0.91	0.24460	N	0.411	0.45142	-0.9003	0.47962	T	0.132	0.44445	T	10	0.0071424246	0.00162	T	.	.	.	0.173	0.43840	.	.	0.852236254791	0.85081	0.7260099008780219	0.72544	0.565652636351	0.52896	0.457296043634	0.32940	T	0.034618	0.23393	T	-0.330154	0.06101	T	-0.230763	0.51698	T	0.014204565970665	0.00280	T	0.758824	0.38273	T	0.42837644	0.62646	0.23189811	0.48335	0.42837644	0.62646	0.23189811	0.48334	-5.738	0.44031	T	.	.	0.112	0.25034	B	.;.	.;.	3.952577	0.57911	23.9	0.99655955644390981	0.77631	0.96912	0.71619	D	AEFDBCI	0.928929	0.91391	D	0.444090876967139	0.63867	4.629105	0.473415853926189	0.66234	4.925591	0.994686813683884	0.33752	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.8	4.8	0.61157	5.223000	0.65114	5.993000	0.52362	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	16.002	0.80097	830	0.39242	Dual specificity protein phosphatase domain;Dual specificity protein phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	1065.43	79	chr8	33592032	.	C	T	1065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=397;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.14;SOR=0.46	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr8	35722260	35722260	G	A	exonic	UNC5D	.	nonsynonymous SNV	UNC5D:NM_001322818:exon9:c.G1153A:p.V385I,UNC5D:NM_080872:exon9:c.G1168A:p.V390I	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00750973613324	0.0005	0.00199681	0.0014	0.0004	0.0002	0.0001	0.0002	0.0003	0	0.0085	0.0012613	195	154602	rs144971419	0.0007	0.0007	0.0005	0.0009	0.0080	0.0006	0.0006	0.0075	0.0073	0.0007	8.944e-05	0.0010	0.0001	3.744e-05	0.0014	0.0002	0.0005	0.0080	0.0006	0.0006	0.0005	0.0006	0.0093	0.0005	0.0004	0.0072	0.0064	0.0004	0.0022	6.535e-05	0.0012	0.0004	0	0.0034	0.0002	0.0005	0.0093	0.12	0.29554	T	0.503	0.11968	T	0.111	0.28960	B	0.011	0.20508	B	0.001235	0.39743	N	0.282195	0.792624	0.34406	D	0.035	0.08059	N	0.57	0.55090	T	-0.38	0.14782	N	0.194	0.30461	-1.0711	0.09173	T	0.048	0.20672	T	10	0.0043495297	0.00088	T	0.00751	0.19926	T	0.039	0.10176	.	.	0.0934897674506	0.08844	0.33941227648612665	0.33854	0.367662693662	0.38331	0.354192942381	0.18538	T	0.028156	0.20459	T	-0.496656	0.00597	T	-0.481483	0.24290	T	0.00709674218331917	0.00081	T	0.847115	0.53695	T	0.03348015	0.03576	0.035376087	0.02778	0.03348015	0.03576	0.035376087	0.02778	-4.252	0.28023	T	.	.	0.080	0.10497	B	.;.;.;.;.	.;.;.;.;.	1.335750	0.17414	13.15	0.98789758688554674	0.46269	0.70939	0.34800	D	AEFBI	0.133736	0.25349	N	-0.602852765581958	0.18857	0.9824567	-0.434579669683885	0.23990	1.311206	0.971338599254094	0.29278	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.71	3.9	0.44240	0.934000	0.28510	3.044000	0.36093	0.676000	0.76740	0.624000	0.27948	1.000000	0.68203	0.493000	0.28859	0.2267:0.0:0.7733:0.0	8.871	0.34472	606	0.67383	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	1174.43	33	chr8	35722260	.	G	A	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.766;DP=414;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.901;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	0	1	0
chr8	36784411	36784411	A	G	exonic	KCNU1	.	startloss	KCNU1:NM_001031836:exon1:c.A1G:p.M1?	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0111058070805	.	.	0.0001	0	0	0	0	0.0002	0.0024	0	0.0001358	21	154602	rs749840726	9.468e-05	9.508e-05	0.0001	8.691e-05	0.0044	8.159e-05	7.673e-05	0.0030	0.0026	0.0004	0.0001	3.877e-05	0	0	0.0044	6.397e-05	0.0003	1.17e-05	5.253e-05	5.249e-05	6.424e-05	4.028e-05	0.0001	2.555e-05	1.829e-05	2.258e-05	1.124e-05	2.406e-05	0	0.0001	0	0	0	0	5.88e-05	0.0005	0	0.0	0.91255	D	0.036	0.53788	D	0.012	0.16265	B	0.002	0.06944	B	.	.	.	.	1	0.81001	D	.	.	.	1.61	0.29602	T	-0.26	0.11185	N	0.685	0.69125	-1.0100	0.26917	T	0.043	0.18618	T	8	0.71629184	0.73368	D	0.011106	0.28394	T	0.133	0.36157	0.993	0.99924	0.0806252709748	0.07271	0.20416310490336134	0.20333	.	.	.	.	.	0.026372	0.19532	T	-0.319587	0.06931	T	-0.448532	0.27859	T	0.0338731269762229	0.02616	T	0.9	0.65058	D	0.6839701	0.77184	0.48015052	0.69892	0.6839701	0.77185	0.48015052	0.69893	-4.734	0.33813	T	.	.	.	.	.	.;.	.;.	-0.050635	0.03947	0.880	0.40592716686731639	0.02874	0.01829	0.05679	N	AEFGI	0.013110	0.00163	N	-1.41519308192003	0.02505	0.1107038	-1.56715217575407	0.01860	0.08479596	1.09794275123649E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.884	-1.77	0.07551	0.504000	0.22335	2.990000	0.35877	-0.089000	0.16174	0.018000	0.19461	0.974000	0.29927	0.002000	0.04165	0.4211:0.0:0.2555:0.3234	1.417	0.02164	745	0.52414	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.017544	0.000000	0.000000	0.000000	0.000000	0.05	1260.43	35	chr8	36784411	.	A	G	1260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.311;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.116;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr8	37831533	37831533	C	T	exonic	ADGRA2	.	nonsynonymous SNV	ADGRA2:NM_032777:exon8:c.C1043T:p.T348I	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0512235864314	0.0011	0.000399361	0.0012	0.0003	0.0010	0	0	0.0018	0.0011	0.0009	0.001119	173	154602	rs147457253	0.0010	0.0010	0.0011	0.0010	0.0043	0.0010	0.0010	0.0030	0.0026	0.0002	0.0006	0.0182	0	0	0.0043	0.0007	0.0021	0.0006	0.0012	0.0012	0.0012	0.0012	0.0016	0.0011	0.0010	0.0011	0.0009	0.0002	0.0044	0.0016	0.0165	0	0	0.0034	0.0012	0.0019	0.0008	0.013	0.57480	D	0.006	0.70582	D	0.729	0.42602	P	0.316	0.41603	B	0.000336	0.45700	D	0.187642	0.821978	0.34790	D	.	.	.	0.65	0.52642	T	-3.02	0.65056	D	0.392	0.43320	-0.7414	0.58381	T	0.136	0.45068	T	10	0.008280575	0.00188	T	0.051224	0.64572	D	0.130	0.35528	.	.	0.40528724903	0.40140	0.7704096990166903	0.76989	0.296725836107	0.32059	0.705199956894	0.67897	T	0.519305	0.83159	D	-0.320103	0.06889	T	-0.298703	0.44862	T	0.0316346049031807	0.02247	T	0.682432	0.35288	T	0.16056825	0.36007	0.1787573	0.40566	0.16056825	0.36006	0.1787573	0.40565	-10.082	0.76566	D	.	.	0.472	0.63296	A	.;.	.;.	3.545688	0.49816	22.8	0.99665856841731271	0.78266	0.83437	0.42554	D	AEFDGBHCI	0.606206	0.59664	D	0.0945648589979406	0.46210	2.864853	0.194101572700792	0.49524	3.154488	0.999999999949071	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.22	4.34	0.51267	4.293000	0.58834	4.807000	0.45013	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.9257:0.0:0.0743	13.808	0.62734	783	0.47268	.;GPCR, family 2, extracellular hormone receptor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.010101	0.002717	0.008772	0.000000	0.000000	0.003049	0.003788	0.05	992.43	37	chr8	37831533	.	C	T	992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.435;DP=423;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.1;SOR=0.829	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1347	9	0	1	0
chr8	37936837	37936837	A	G	exonic	GOT1L1	.	nonsynonymous SNV	GOT1L1:NM_152413:exon6:c.T646C:p.C216R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.430	0.0539841360733	0.0003	.	3.344e-05	0	0	0	0	4.539e-05	0	6.131e-05	2.59e-05	4	154602	rs369438333	4.113e-05	4.173e-05	4.635e-05	3.586e-05	0.0002	3.251e-05	2.926e-05	6.251e-05	4.761e-05	0	0	0	0	0	0.0002	3.696e-05	0.0001	0.0001	3.285e-05	3.283e-05	6.423e-05	0	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.018	0.50676	D	0.318	0.19246	T	0.168	0.28654	B	0.121	0.32300	B	0.996089	0.07997	N	0.997757	0.954514	0.37881	D	2.08	0.57402	M	-2.66	0.90272	D	-0.98	0.25986	N	0.477	0.51226	-0.3781	0.72711	T	0.493	0.80757	T	10	0.3511848	0.51974	T	0.053984	0.65682	D	0.430	0.73662	.	.	0.565574550146	0.56221	0.7225538807560067	0.72199	0.016936993713	0.01637	0.282846182585	0.07892	T	0.241177	0.60965	T	-0.0794848	0.39799	T	-0.148351	0.59389	T	0.290185958147049	0.24597	T	0.558444	0.19458	T	0.3033924	0.53207	0.29298207	0.55327	0.3033924	0.53207	0.29298207	0.55326	-3.468	0.15987	T	.	.	0.226	0.45822	B	.	.	1.575192	0.20165	14.62	0.93610414681438414	0.23473	0.05104	0.10906	N	AEFBI	0.061063	0.11646	N	-0.57325508904221	0.19761	1.036712	-0.550394699239572	0.20796	1.122074	0.80471893925318	0.24248	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.85	-1.5	0.08233	1.210000	0.31975	0.678000	0.20656	0.734000	0.85920	0.008000	0.17931	0.000000	0.08366	0.984000	0.60418	0.2975:0.1772:0.1396:0.3857	0.342	0.00312	740	0.53092	Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1272.43	35	chr8	37936837	.	A	G	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.265;DP=415;ExcessHet=0;FS=6.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.135;SOR=0.74	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr8	38428408	38428408	T	G	exonic	FGFR1	.	nonsynonymous SNV	FGFR1:NM_001174066:exon3:c.A119C:p.D40A,FGFR1:NM_001354368:exon3:c.A119C:p.D40A,FGFR1:NM_001354370:exon3:c.A119C:p.D40A,FGFR1:NM_023105:exon3:c.A119C:p.D40A,FGFR1:NM_023106:exon3:c.A119C:p.D40A,FGFR1:NM_001174063:exon4:c.A386C:p.D129A,FGFR1:NM_001174065:exon4:c.A386C:p.D129A,FGFR1:NM_001354367:exon4:c.A386C:p.D129A,FGFR1:NM_001354369:exon4:c.A386C:p.D129A,FGFR1:NM_015850:exon4:c.A386C:p.D129A,FGFR1:NM_023110:exon4:c.A386C:p.D129A,FGFR1:NM_001174064:exon5:c.A362C:p.D121A,FGFR1:NM_001174067:exon5:c.A485C:p.D162A	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	444277	FGFR1-related_disorder|Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|not_provided	.|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.662	0.227418458921	.	.	0.0001	0	0	0	0	4.686e-05	0	0.0008	0.00011	17	154602	rs765615419	5.2e-05	5.199e-05	2.587e-05	7.84e-05	0.0007	4.259e-05	3.889e-05	0.0006	0.0005	0	0	0	0	0	0.0005	5.396e-06	0.0001	0.0007	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	6.537e-05	0	0	0	0	0	0.0005	0.0004	0.001	0.91255	D	0.077	0.74150	T	0.913	0.59353	P	0.702	0.61067	P	0.000000	0.84330	D	0.090906	1	0.81001	D	2.365	0.68172	M	-1.11	0.78082	T	-3.45	0.72353	D	0.753	0.82964	0.068	0.83583	D	0.508	0.81479	D	10	0.526051	0.62915	D	0.227418	0.88090	D	0.662	0.87381	0.569	0.69167	0.887666243209	0.88656	0.6979580144845393	0.69736	0.127986724719	0.14431	0.77654004097	0.78407	T	0.781472	0.94235	D	0.0589838	0.59486	T	0.239145	0.85110	D	0.516986668109894	0.33254	D	0.932007	0.82551	D	0.54339164	0.69586	0.4047027	0.64890	0.55517733	0.70244	0.42836893	0.66553	-7.889	0.62249	D	0.3130129851362753	0.41096	0.279	0.65559	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.751291	0.76717	26.6	0.99522509340392684	0.69346	0.90186	0.51166	D	AEFGBCI	0.757337	0.69632	D	0.433561036809446	0.63277	4.558405	0.503625839791808	0.68234	5.191987	0.999999999199039	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.69	5.69	0.88346	4.949000	0.63298	7.935000	0.75225	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	15.120	0.72113	844	0.36711	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	567.43	34	chr8	38428408	.	T	G	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.817;DP=355;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.286;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	9	0	1	0
chr8	38457381	38457381	C	G	exonic	FGFR1	.	nonsynonymous SNV	FGFR1:NM_001174063:exon2:c.G66C:p.R22S,FGFR1:NM_001174065:exon2:c.G66C:p.R22S,FGFR1:NM_001174066:exon2:c.G66C:p.R22S,FGFR1:NM_001354367:exon2:c.G66C:p.R22S,FGFR1:NM_001354368:exon2:c.G66C:p.R22S,FGFR1:NM_001354369:exon2:c.G66C:p.R22S,FGFR1:NM_001354370:exon2:c.G66C:p.R22S,FGFR1:NM_015850:exon2:c.G66C:p.R22S,FGFR1:NM_023105:exon2:c.G66C:p.R22S,FGFR1:NM_023106:exon2:c.G66C:p.R22S,FGFR1:NM_023110:exon2:c.G66C:p.R22S,FGFR1:NM_001174067:exon3:c.G165C:p.R55S	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1155959	not_specified|not_provided|Osteoglophonic_dysplasia|FGFR1-related_disorder|Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008150,MedGen:C0432283,OMIM:166250,Orphanet:2645|.|MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.465	.	7.7e-05	0.00279553	0.0014	0.0002	8.688e-05	0	0	0	0.0011	0.0097	0.0011578	179	154602	rs17175750	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0005	0.0073	0.0071	2.987e-05	0	0	2.519e-05	0	0.0002	3.597e-06	0.0007	0.0078	0.0003	0.0003	0.0002	0.0003	0.0085	0.0002	0.0002	0.0064	0.0057	0	0	0	0	0	0	0	1.47e-05	0	0.0085	0.002	0.78490	D	0.378	0.70582	T	0.956	0.70673	P	0.781	0.83170	P	0.022490	0.26624	N	0.322762	0.993772	0.81001	D	0.895	0.22405	L	-1.24	0.81559	T	-1.8	0.89401	N	0.516	0.62950	-0.1495	0.78928	T	0.461	0.79083	T	10	0.009594858	0.00216	T	.	.	.	0.465	0.76089	0.385	0.40460	0.84487089009	0.84338	0.46804233149893054	0.46723	0.0422214061443	0.04548	0.524455547333	0.42254	T	0.584637	0.86451	D	-0.160548	0.26675	T	0.00314656	0.70540	D	0.0468146993580419	0.04931	T	0.950805	0.91818	D	0.11322813	0.26743	0.11068167	0.26690	0.102516904	0.24223	0.13925685	0.33232	-4.675	0.76490	T	.	.	0.560	0.71888	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.413397	0.47364	22.4	0.99082381417027321	0.52002	0.75038	0.36724	D	AEFDBI	0.574197	0.57708	D	0.0924881785413865	0.46114	2.85677	0.134054895501286	0.46302	2.878447	0.99965944218501	0.41424	0.706548	0.73137	0	0.610034	0.51514	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.46	3.38	0.37806	0.604000	0.23862	1.767000	0.28601	-0.181000	0.10308	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:0.7573:0.0:0.2427	8.058	0.29780	872	0.31118	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	897.43	65	chr8	38457381	.	C	G	897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.119;DP=378;ExcessHet=0;FS=2.408;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.715;SOR=1.169	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	9	0	1	0
chr8	38988000	38988000	G	C	exonic	HTRA4	.	nonsynonymous SNV	HTRA4:NM_153692:exon9:c.G1333C:p.D445H	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.258428463521	0.0005	0.00159744	0.0018	9.724e-05	0.0010	0	0.0002	0.0015	0.0045	0.0061	0.0015524	240	154602	rs139374339	0.0011	0.0011	0.0009	0.0013	0.0067	0.0011	0.0011	0.0063	0.0061	0.0001	0.0007	0	2.524e-05	0.0002	0.0033	0.0008	0.0011	0.0067	0.0009	0.0009	0.0008	0.0011	0.0075	0.0008	0.0008	0.0055	0.0049	0.0002	0	0.0022	0	0	0	0.0034	0.0009	0.0009	0.0075	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000021	0.55875	D	0.066400	1	0.81001	D	3.08	0.87267	M	-1.9	0.84628	D	-5.24	0.83967	D	0.638	0.65074	0.741	0.93682	D	0.807	0.93468	D	10	0.024195105	0.00657	T	0.258428	0.89407	D	0.751	0.91456	.	.	0.978025239274	0.97778	0.7825490449195445	0.78205	0.579290574343	0.53809	0.493719756603	0.37955	T	0.09733	0.40005	T	0.10995	0.65347	D	0.38791	0.91709	D	0.142907733418972	0.16523	T	0.586841	0.21439	T	0.8243261	0.85513	0.8029024	0.88452	0.8243261	0.85515	0.8029024	0.88453	-9.493	0.70815	D	.	.	0.361	0.57274	A	.	.	4.093954	0.60998	24.3	0.99404666347589465	0.62981	0.98821	0.87296	D	AEFBI	0.881359	0.80865	D	0.869660193267806	0.90197	10.29553	0.789693061423875	0.89066	9.825581	0.999999999999984	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.645665	0.59343	0	.	.	6.07	6.07	0.98675	8.340000	0.89951	8.662000	0.77976	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:1.0:0.0	19.431	0.94757	651	0.62880	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005102	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	581.43	33	chr8	38988000	.	G	C	581.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.558;DP=371;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=0.961;SOR=0.907	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	243.53	33	chr8	39963621	.	A	G	243.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.434;DP=958;ExcessHet=1.5895;FS=106.457;InbreedingCoeff=-0.2469;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=-0.423;SOR=10.175	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	6	0	4	0
chr8	41933029	41933029	T	C	exonic	KAT6A	.	nonsynonymous SNV	KAT6A:NM_006766:exon17:c.A5191G:p.I1731V	Mental retardation, autosomal dominant 32, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2930703	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.0182294830685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.011	0.64786	D	0.493	0.37004	P	0.155	0.34417	B	0.000000	0.84330	D	0.000000	0.796295	0.29167	N	0.345	0.11182	N	0.19	0.60236	T	-0.65	0.18877	N	0.312	0.35194	-0.9516	0.40695	T	0.113	0.40284	T	10	0.1927948	0.35022	T	0.018229	0.40224	T	0.104	0.29647	0.193	0.10437	0.316918214084	0.31302	0.3802453629277638	0.37939	0.155443927998	0.17544	0.660066008568	0.61419	T	0.118948	0.44013	T	-0.0652942	0.42077	T	-0.331567	0.41295	T	0.381361643360282	0.28235	T	0.643236	0.25495	T	0.32590756	0.55134	0.2335678	0.48550	0.32590756	0.55134	0.2335678	0.48548	-2.903	0.09173	T	.	.	0.228	0.51165	B	.;.;.	.;.;.	3.078442	0.41403	21.3	0.90021567682180137	0.19310	0.92128	0.55007	D	AEFDBI	0.253752	0.37319	N	-0.011141991918475	0.41349	2.471799	0.163433275852573	0.47858	3.009826	0.999387545186418	0.39415	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	2.392000	0.44087	3.457000	0.38487	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.846	0.78673	506	0.75555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2908.43	33	chr8	41933029	.	T	C	2908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=585;ExcessHet=0;FS=0.443;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.989;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	9	0	1	0
chr8	42417837	42417837	G	A	exonic	SLC20A2	.	nonsynonymous SNV	SLC20A2:NM_001257180:exon11:c.C1925T:p.A642V,SLC20A2:NM_001257181:exon11:c.C1925T:p.A642V,SLC20A2:NM_006749:exon11:c.C1925T:p.A642V	Basal ganglia calcification, idiopathic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.18730610641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.34982	T	0.288	0.21144	T	0.449	0.36046	B	0.099	0.30579	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.89	0.50145	L	-2.86	0.91421	D	-1.7	0.40468	N	0.737	0.81162	-0.0690	0.80802	T	0.562	0.84063	D	10	0.6963955	0.72170	D	0.187306	0.85930	D	0.441	0.74447	0.436	0.48828	0.747164490037	0.74488	0.9334742945601687	0.93326	0.857948775755	0.68837	0.656321644783	0.60884	T	0.123129	0.44727	T	0.355206	0.86882	D	0.272453	0.86711	D	0.665361619026374	0.39131	D	0.960504	0.85148	D	0.15710792	0.35419	0.21221037	0.45681	0.15710792	0.35419	0.21221037	0.45680	-11.26	0.81065	D	0.5929757970623135	0.65980	0.531	0.65955	A	.;.;.	.;.;.	4.107828	0.61298	24.3	0.95363356238489438	0.26765	0.99155	0.92040	D	AEFDBI	0.892456	0.82939	D	0.199324755046388	0.51166	3.300142	0.346256571646352	0.58282	3.997939	0.99999999999995	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	6.17	6.17	0.99707	10.003000	0.99689	10.002000	0.83047	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.196000	0.21779	0.0:0.0:1.0:0.0	18.373	0.90364	710	0.56735	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	120.43	36	chr8	42417837	.	G	A	120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-7.159;DP=873;ExcessHet=0;FS=334.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.61;SOR=9.065	GT:AD:DP:GQ:PL	0/1:243,88:335:99:132,0,4666	9	0	1	0
chr8	42732409	42732409	G	A	exonic	CHRNB3	.	nonsynonymous SNV	CHRNB3:NM_000749:exon5:c.G1102A:p.V368M,CHRNB3:NM_001347717:exon6:c.G880A:p.V294M	.	420	1084	18	0	0	18	0.00823422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0679876908316	0.0025	0.000998403	0.0026	0.0006	0.0020	0	0.0017	0.0036	0.0044	0.0024	0.002445	378	154602	rs56198260	0.0020	0.0020	0.0018	0.0022	0.0061	0.0019	0.0019	0.0045	0.0039	0.0003	0.0019	0.0083	0	0.0023	0.0061	0.0019	0.0025	0.0024	0.0019	0.0019	0.0018	0.0020	0.0027	0.0017	0.0017	0.0024	0.0022	0.0003	0	0.0020	0.0107	0	0.0015	0.0068	0.0027	0.0028	0.0015	0.255	0.16848	T	0.23	0.25135	T	0.005	0.12996	B	0.012	0.16012	B	0.839037	0.09048	N	0.922052	1	0.08975	N	0.845	0.21182	L	-2.03	0.85613	D	-0.25	0.11008	N	0.05	0.02179	-0.8081	0.54665	T	0.262	0.63253	T	10	0.0050426424	0.00109	T	0.067988	0.70325	D	0.078	0.22779	.	.	0.631193307288	0.62817	0.17562537641401327	0.17481	0.235224821337	0.26052	0.257494568825	0.04597	T	0.169877	0.51742	T	-0.478152	0.00758	T	-0.4636	0.26209	T	0.00115007752093708	0.00011	T	0.533147	0.17760	T	0.029428795	0.02437	0.03863572	0.03776	0.029428795	0.02437	0.03863572	0.03776	-4.373	0.29188	T	.	.	0.072	0.04316	B	.	.	0.549223	0.09179	5.961	0.76828870321348097	0.11626	0.16448	0.19394	N	AEFDI	0.164081	0.29043	N	-1.06518823092291	0.07293	0.3383417	-1.01863745347948	0.09375	0.4660809	0.971490785922222	0.29292	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.79	2.91	0.32903	0.038000	0.13749	0.712000	0.20944	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0625:0.3301:0.494:0.1134	7.583	0.27141	350	0.85473	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.100000	0.000000	0.012195	0.003788	0.05	1201.43	34	chr8	42732409	.	G	A	1201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.655;DP=505;ExcessHet=0;FS=3.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.931;SOR=1.129	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1267	9	0	1	0
chr8	47727284	47727284	C	T	exonic	SPIDR	.	nonsynonymous SNV	SPIDR:NM_001352959:exon8:c.C941T:p.P314L,SPIDR:NM_001352960:exon10:c.C851T:p.P284L,SPIDR:NM_001352945:exon13:c.C1700T:p.P567L,SPIDR:NM_001352941:exon14:c.C1910T:p.P637L,SPIDR:NM_001352953:exon14:c.C1493T:p.P498L,SPIDR:NM_001352956:exon14:c.C1493T:p.P498L,SPIDR:NM_001352939:exon15:c.C1934T:p.P645L,SPIDR:NM_001352942:exon15:c.C1769T:p.P590L,SPIDR:NM_001352952:exon15:c.C1493T:p.P498L,SPIDR:NM_001352955:exon15:c.C1493T:p.P498L,SPIDR:NM_001352957:exon15:c.C1493T:p.P498L,SPIDR:NM_001282916:exon16:c.C2216T:p.P739L,SPIDR:NM_001352935:exon16:c.C2216T:p.P739L,SPIDR:NM_001352938:exon16:c.C1934T:p.P645L,SPIDR:NM_001352940:exon16:c.C1934T:p.P645L,SPIDR:NM_001352946:exon16:c.C1676T:p.P559L,SPIDR:NM_001352948:exon16:c.C1676T:p.P559L,SPIDR:NM_001352950:exon16:c.C1934T:p.P645L,SPIDR:NM_001352951:exon16:c.C1676T:p.P559L,SPIDR:NM_001080394:exon17:c.C2426T:p.P809L,SPIDR:NM_001282919:exon17:c.C2246T:p.P749L,SPIDR:NM_001352931:exon17:c.C2426T:p.P809L,SPIDR:NM_001352932:exon17:c.C2306T:p.P769L,SPIDR:NM_001352933:exon17:c.C2246T:p.P749L,SPIDR:NM_001352934:exon17:c.C2426T:p.P809L,SPIDR:NM_001352937:exon17:c.C2246T:p.P749L,SPIDR:NM_001352947:exon17:c.C1676T:p.P559L,SPIDR:NM_001352949:exon18:c.C1769T:p.P590L,SPIDR:NM_001352958:exon19:c.C1178T:p.P393L	.	428	1093	1	0	0	1	0.000457247	.	.	.	736689	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.024	.	0.0002	0.00758786	0.0046	0.0002	8.905e-05	0	0.0010	0.0006	0.0046	0.0304	0.003965	613	154602	rs199612363	0.0020	0.0020	0.0013	0.0028	0.0272	0.0020	0.0019	0.0263	0.0260	0.0001	0.0002	0	0.0001	0.0011	0.0010	0.0004	0.0023	0.0272	0.0013	0.0013	0.0009	0.0018	0.0290	0.0012	0.0011	0.0251	0.0236	0.0001	0	0.0003	0	0	0.0016	0	0.0005	0	0.0290	0.581	0.22312	T	0.006	0.72224	D	0.333	0.38987	B	0.042	0.30945	B	0.026362	0.25931	N	0.449261	1	0.08975	N	1.295	0.32453	L	.	.	.	-4.93	0.95336	D	0.291	0.38950	-1.0043	0.28666	T	0.114	0.40559	T	9	0.0048718154	0.00104	T	.	.	.	0.054	0.15330	.	.	0.143124449307	0.13826	0.24004243351475385	0.23918	0.300067500273	0.32371	.	.	.	0.202897	0.56120	T	-0.439955	0.01294	T	-0.383791	0.35277	T	0.0853742363017017	0.10659	T	0.70443	0.32778	T	0.045078773	0.07319	0.09386496	0.22191	0.045078773	0.07318	0.09386496	0.22191	-9.053	0.68038	D	.	.	0.079	0.18663	B	.;.;.;.;.;.	.;.;.;.;.;.	3.117954	0.42087	21.5	0.90126381669951006	0.19406	0.55158	0.29794	D	AEFDBI	0.088301	0.17902	N	-0.231345839894009	0.31854	1.790376	-0.229969089704573	0.30468	1.71573	0.889699909768207	0.25819	0.706548	0.73137	0	0.724815	0.89359	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.84	3.13	0.35090	0.875000	0.27729	0.534000	0.19274	-0.798000	0.03190	0.869000	0.30776	0.000000	0.08366	0.484000	0.28656	0.1319:0.6613:0.0:0.2068	6.048	0.18997	624	0.65661	Domain of unknown function DUF4503;.;.;Domain of unknown function DUF4503;Domain of unknown function DUF4503;Domain of unknown function DUF4503	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	2078.12	37	chr8	47727284	.	C	T	2078.12	.	AC=2;AF=0.1;AN=20;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.02;SOR=1.716	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1049	9	1	0	0
chr8	49075160	49075160	T	G	exonic	PPDPFL	.	nonsynonymous SNV	PPDPFL:NM_001256596:exon5:c.T242G:p.M81R,PPDPFL:NM_001256597:exon5:c.T242G:p.M81R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.000541215822055	0.0031	0.000998403	0.0024	0.0012	0.0014	0	0.0018	0.0035	0.0045	0.0007	0.0023932	370	154602	rs180910379	0.0033	0.0033	0.0033	0.0033	0.0040	0.0033	0.0032	0.0039	0.0039	0.0010	0.0018	0.0001	2.519e-05	0.0013	0.0024	0.0040	0.0026	0.0009	0.0026	0.0026	0.0028	0.0024	0.0041	0.0024	0.0023	0.0037	0.0035	0.0006	0.0099	0.0032	0.0003	0	0.0021	0	0.0041	0.0019	0.0010	0.015	0.52492	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.19	0.04947	N	0.096	0.07673	-1.0261	0.21723	T	0.027	0.11441	T	4	0.005693257	0.00126	T	5.41E-4	0.00196	T	0.094	0.27141	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.605261	0.00135	T	-0.641789	0.09539	T	0.00610738012166533	0.00067	T	0.214779	0.02659	T	.	.	.	.	.	.	.	.	-2.243	0.04254	T	.	.	0.120	0.24867	B	.;.	.;.	0.687930	0.10564	7.273	0.30085421067863383	0.01628	0.01882	0.05788	N	AEFI	0.040430	0.06014	N	-1.07781643229902	0.07054	0.3265441	-1.33318348274486	0.04008	0.1881722	0.088683850081247	0.16066	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.66	-7.23	0.01331	-0.040000	0.12056	-2.989000	0.03163	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.1321:0.2911:0.3035:0.2733	1.480	0.02288	700	0.57880	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2100.43	41	chr8	49075160	.	T	G	2100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=525;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.48;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1249	9	0	1	0
chr8	53851990	53851990	G	A	exonic	RGS20	.	nonsynonymous SNV	RGS20:NM_001286673:exon1:c.G91A:p.A31T,RGS20:NM_170587:exon1:c.G91A:p.A31T	.	432	1058	31	1	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0007	0.00359425	0.0029	0.0002	0.0003	0	0	0.0009	0.0044	0.0170	0.0025355	392	154602	rs144848624	0.0014	0.0014	0.0010	0.0019	0.0174	0.0014	0.0014	0.0167	0.0164	5.974e-05	0.0006	0.0070	0	1.872e-05	0.0050	0.0002	0.0022	0.0174	0.0009	0.0009	0.0006	0.0012	0.0170	0.0008	0.0007	0.0140	0.0129	4.811e-05	0	6.533e-05	0.0081	0.0002	0	0	0.0003	0.0014	0.0170	0.203	0.20154	T	0.329	0.18617	T	0.001	0.07471	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	0.61	0.59176	T	-0.44	0.14588	N	0.061	0.06322	-1.0203	0.23616	T	0.109	0.39415	T	9	0.0029816628	0.00048	T	.	.	.	0.022	0.04323	.	.	0.558657003308	0.55527	0.12062619207238452	0.11989	0.452195566295	0.44952	0.300274133682	0.10441	T	0.196982	0.55352	T	-0.592168	0.00163	T	-0.609105	0.12057	T	0.00151624402747936	0.00015	T	0.524848	0.18126	T	0.025091404	0.01409	0.04955465	0.07596	0.025091404	0.01409	0.04955465	0.07596	-3.278	0.13455	T	.	.	0.078	0.09385	B	.;.	.;.	0.272523	0.06499	2.980	0.8574158757909941	0.16083	0.05806	0.11743	N	AEFBCI	0.038940	0.05584	N	-1.09893680717567	0.06664	0.3073789	-1.1107384537359	0.07494	0.364749	0.99963125534603	0.41205	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	4.84	1.04	0.19220	-0.114000	0.10729	-0.529000	0.08646	-0.113000	0.14837	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.3869:0.0:0.6131:0.0	6.703	0.22423	785	0.46916	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.000000	0.002924	0.000000	0.025862	0.009146	0.011364	0.05	858.43	34	chr8	53851990	.	G	A	858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.008;DP=374;ExcessHet=0;FS=0.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.832;SOR=0.936	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1194	9	0	1	0
chr8	54022107	54022107	G	A	exonic	TCEA1	.	nonsynonymous SNV	TCEA1:NM_006756:exon1:c.C19T:p.R7C,TCEA1:NM_201437:exon1:c.C19T:p.R7C	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.297243364303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.67890	D	1.0	0.90584	D	0.975	0.73362	D	0.002990	0.35606	U	0.224693	0.999713	0.49283	D	3.065	0.87014	M	.	.	.	-3.79	0.88904	D	0.626	0.76388	0.080	0.83803	D	0.472	0.79695	T	9	0.8465647	0.83823	D	0.297243	0.90763	D	0.402	0.71558	0.65	0.78753	0.716214108461	0.71372	0.30869752647157755	0.30782	1.52884758063	0.87551	0.878962993622	0.93820	D	0.367644	0.73268	T	0.249274	0.78534	D	0.120289	0.78255	D	0.995221436023712	0.87048	D	0.942906	0.83996	D	0.29947707	0.52858	0.19575046	0.43268	0.29947707	0.52858	0.19575046	0.43268	-4.295	0.73546	T	.	.	0.682	0.77831	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.640909	0.73888	26.1	0.99852620180704255	0.93191	0.65255	0.32676	D	AEFDGBCI	0.442560	0.50023	N	0.682663270292309	0.78499	6.883517	0.639651928388423	0.77841	6.757891	0.999999999890047	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.85	4.85	0.62375	4.649000	0.61129	11.010000	0.84848	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.195000	0.21750	0.0:0.0:1.0:0.0	13.467	0.60716	912	0.21483	.;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;.;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal|Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type;Transcription factor IIS, N-terminal;Transcription factor IIS, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1892.43	33	chr8	54022107	.	G	A	1892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.858;DP=504;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.83;MQRankSum=0.509;QD=10.46;ReadPosRankSum=-1.015;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	9	0	1	0
chr8	54628507	54628507	A	G	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.A4625G:p.Y1542C	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3750954	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0493612105066	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281810880	6.158e-06	6.156e-06	5.446e-06	6.877e-06	0.0002	2.9e-06	2.1e-06	1.94e-06	1.28e-06	0	0	0	2.52e-05	0	0.0002	5.396e-06	1.656e-05	0	1.314e-05	1.313e-05	2.57e-05	0	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.008	0.67890	D	0.105	0.25993	B	0.042	0.24114	B	0.000395	0.44960	D	0.000000	0.750595	0.29642	N	1.87	0.49600	L	-0.36	0.68754	T	-4.16	0.75375	D	0.412	0.45237	-0.8276	0.53454	T	0.198	0.55329	T	10	0.34885108	0.51791	T	0.049361	0.63780	D	0.242	0.54781	0.478	0.55663	0.807200034057	0.80539	0.4263122549564914	0.42548	0.0979035133984	0.11043	0.395508497953	0.24443	T	0.486441	0.81292	T	0.064238	0.60142	T	-0.145503	0.59639	T	0.971434414386749	0.69316	D	0.743726	0.36333	T	0.62569845	0.74068	0.39703125	0.64329	0.62569845	0.74069	0.39703125	0.64329	-3.371	0.14669	T	0.3948275326053707	0.48750	0.110	0.21353	B	.	.	3.203530	0.43573	21.8	0.99676071767669838	0.78912	0.78796	0.38931	D	AEFDBI	0.188347	0.31562	N	-0.23862934907462	0.31560	1.770856	-0.178956991776489	0.32311	1.837037	0.989663350643427	0.31897	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	0.489	0.16063	2.874000	0.48181	1.422000	0.26372	0.756000	0.94297	1.000000	0.71638	0.394000	0.24678	0.989000	0.64315	0.6308:0.1235:0.1273:0.1183	2.837	0.05177	795	0.45444	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1471.43	99	chr8	54628507	.	A	G	1471.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=719;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.333;SOR=0.631	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,113,1619	9	0	1	0
chr8	54629269	54629269	C	T	exonic	RP1	.	nonsynonymous SNV	RP1:NM_006269:exon4:c.C5387T:p.T1796M	Retinitis pigmentosa 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	992878	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.101	0.00756059828165	.	.	1.675e-05	0	0	0.0001	0	0	0	6.13e-05	1.29e-05	2	154602	rs764959789	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0002	1.52e-05	1.325e-05	4.581e-05	3.274e-05	2.988e-05	0	0	2.52e-05	0	0.0002	1.709e-05	1.656e-05	9.281e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.102	0.38450	T	0.349	0.33622	B	0.125	0.32635	B	0.201882	0.03325	N	1.642690	1	0.08975	N	1.95	0.52479	M	2.02	0.21119	T	-1.35	0.33598	N	0.14	0.13911	-1.0179	0.24398	T	0.036	0.15726	T	10	0.042746633	0.03053	T	0.007561	0.20060	T	0.101	0.28911	.	.	0.0920862733494	0.08535	0.195580500468587	0.19475	0.151306516326	0.17079	0.264977604151	0.05498	T	0.062162	0.31843	T	-0.421952	0.01662	T	-0.662354	0.08108	T	0.064061626791954	0.07792	T	0.586841	0.21439	T	0.03597884	0.04338	0.058614284	0.10860	0.03597884	0.04337	0.058614284	0.10860	-4.269	0.27740	T	.	.	0.095	0.15115	B	.	.	1.180498	0.15708	12.05	0.97204290329423271	0.32824	0.28297	0.23515	N	AEFDGBCIJ	0.195957	0.32296	N	-1.57280265144034	0.01406	0.06130321	-1.69561746619923	0.01157	0.05203659	0.999999998839142	0.74766	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.662026	0.63922	0	.	.	5.93	-7.18	0.01354	0.189000	0.16845	-0.146000	0.11468	-0.898000	0.02344	0.000000	0.06391	0.000000	0.08366	0.391000	0.26581	0.1497:0.3819:0.3642:0.1042	7.039	0.24190	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2467.43	99	chr8	54629269	.	C	T	2467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.929;DP=875;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.922;SOR=0.702	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,113,1619	9	0	1	0
chr8	56113076	56113076	C	T	exonic	MOS	.	nonsynonymous SNV	MOS:NM_005372:exon1:c.G907A:p.V303I	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.166432363896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.258	0.23164	T	0.393	0.34680	B	0.04	0.23831	B	0.481456	0.12161	N	0.748873	0.723432	0.29900	N	0.255	0.09829	N	-3.2	0.93231	D	-0.25	0.11008	N	0.08	0.05542	0.003	0.82317	D	0.558	0.83892	D	10	0.15153506	0.28642	T	0.166432	0.84505	D	0.223	0.52023	0.382	0.39970	0.855073350395	0.85367	0.38639516264321566	0.38554	0.808570310498	0.66628	0.333979547024	0.15534	T	0.114425	0.43222	T	-0.0919985	0.37746	T	-0.369926	0.36897	T	0.231727442061709	0.22033	T	0.782722	0.41876	T	0.04885152	0.08579	0.08745334	0.20328	0.04885152	0.08579	0.08745334	0.20328	-4.323	0.28498	T	.	.	0.078	0.06849	B	.	.	1.813263	0.23040	15.86	0.97829904777381871	0.36252	0.80914	0.40433	D	AEFDBHI	0.117330	0.22989	N	-0.385551619772897	0.25983	1.414628	-0.300939582638805	0.28068	1.56213	0.992496490337967	0.32860	0.59774	0.34471	0	0.563428	0.19063	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	5.8	4.01	0.45821	1.137000	0.31091	1.770000	0.28626	0.599000	0.40250	0.562000	0.27441	0.928000	0.28476	0.010000	0.09038	0.0:0.7857:0.0:0.2143	9.756	0.39670	917	0.20147	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1241.43	34	chr8	56113076	.	C	T	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.409;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.63;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,968	9	0	1	0
chr8	60781346	60781346	C	T	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon3:c.C2012T:p.P671L	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	4	1517	1	0	0	1	0.000329489	.	.	.	305650	not_provided|not_specified|Inborn_genetic_diseases|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|CHARGE_syndrome	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.432	0.361951656962	0.0002	0.00159744	0.0023	0.0003	0	0.0025	0	5.959e-05	0	0.0084	0.0007244	112	154602	rs370588681	0.0005	0.0005	0.0003	0.0006	0.0072	0.0004	0.0004	0.0067	0.0065	6.45e-05	0	0	5.35e-05	0	0.0004	4.028e-05	0.0007	0.0072	0.0003	0.0003	0.0002	0.0005	0.0085	0.0003	0.0002	0.0065	0.0057	0.0001	0	0	0	0.0002	0	0	2.941e-05	0.0005	0.0085	0.014	0.53172	D	0.269	0.22426	T	1.0	0.90584	D	0.995	0.83170	D	0.000338	0.45700	D	0.000000	1	0.81001	D	1.895	0.50365	L	-1.51	0.81399	D	-2.51	0.58248	D	0.587	0.60749	0.010	0.82463	D	0.571	0.84490	D	10	0.00880003	0.00199	T	0.361952	0.92533	D	0.432	0.73807	.	.	0.779885840833	0.77785	0.36719978655998264	0.36633	0.377942332906	0.39216	0.80823802948	0.83222	D	0.483945	0.81146	T	-0.20925	0.19485	T	-0.0705991	0.65584	T	0.135323494672775	0.15865	T	0.923208	0.72946	D	0.12694564	0.29719	0.13410908	0.32144	0.1261435	0.29554	0.15090853	0.35569	-8.843	0.67187	D	0.21350702324014936	0.28670	0.179	0.38941	B	.;.	.;.	4.924929	0.81151	27.5	0.99875854040267376	0.95244	0.97499	0.75145	D	AEFGBCI	0.747762	0.68972	D	0.638830089310579	0.75647	6.343209	0.664203081467443	0.79674	7.132268	0.99999999999999	0.74766	0.706298	0.61202	0	0.685571	0.66316	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	6.804000	0.74974	4.030000	0.41330	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.430	0.94754	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	3004.43	190	chr8	60781346	.	C	T	3004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=533;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.442;SOR=0.726	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr8	60795012	60795012	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon4:c.G2123A:p.S708N	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1521	1	0	0	1	0.000328623	.	.	.	1643000	Inborn_genetic_diseases|CHARGE_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.208	0.0494275274786	.	.	5.002e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs753687437	1.916e-05	1.915e-05	1.362e-05	2.476e-05	0.0003	1.329e-05	1.144e-05	0.0002	0.0002	0	0	0	0	0	0.0002	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.15354	T	0.473	0.12142	T	0.0	0.02946	B	0.001	0.04355	B	0.000183	0.48115	D	0.000000	0.861449	0.81001	D	-0.41	0.02942	N	-1.49	0.81235	T	-0.8	0.27463	N	0.238	0.26837	-0.6084	0.64470	T	0.295	0.66678	T	10	0.09759441	0.17586	T	0.049428	0.63806	D	0.208	0.49714	0.21	0.12781	0.646149302783	0.64322	0.16035415299834116	0.15956	0.0962467611548	0.10862	0.580534934998	0.50161	T	0.141439	0.47650	T	-0.322322	0.06709	T	-0.390251	0.34521	T	0.0930522037116077	0.11575	T	0.624238	0.25202	T	0.1342325	0.31194	0.11072505	0.26702	0.1342325	0.31194	0.11072505	0.26701	-5.103	0.37939	T	0.22091985465942665	0.29787	0.097	0.15832	B	.;.	.;.	2.679874	0.34960	19.77	0.94592857966351751	0.25145	0.87790	0.47451	D	AEFGBI	0.183560	0.31088	N	-0.147434274910624	0.35344	2.028912	0.0743415709297732	0.43262	2.631692	0.999971234459907	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	2.217000	0.42521	6.659000	0.56241	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0728:0.0:0.9272:0.0	13.923	0.63448	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	402.43	34	chr8	60795012	.	G	A	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.973;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=1.48;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,982	9	0	1	0
chr8	60820073	60820073	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon9:c.A2680G:p.T894A	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	1	1515	6	0	0	6	0.00197628	.	.	.	196301	Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|CHARGE_syndrome|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.234	.	8.3e-05	0.00838658	0.0049	0.0003	0.0009	0.0008	0	6.086e-05	0.0029	0.0348	0.0034023	526	154602	rs377662366	0.0017	0.0017	0.0009	0.0025	0.0278	0.0017	0.0016	0.0269	0.0265	0.0001	0	0	5.049e-05	0	0.0009	1.713e-05	0.0019	0.0278	0.0011	0.0011	0.0006	0.0017	0.0332	0.0010	0.0009	0.0290	0.0274	0.0001	0	0	0	0.0004	0	0	0	0	0.0332	0.296	0.19710	T	0.506	0.21011	T	0.126	0.26920	B	0.145	0.33871	B	0.000012	0.62929	D	0.065065	0.999999	0.81001	D	2.565	0.75005	M	-0.58	0.71425	T	-1.4	0.34596	N	0.528	0.55713	-0.5359	0.67319	T	0.351	0.71454	T	10	0.00936836	0.00212	T	.	.	.	0.234	0.53644	.	.	0.847242333881	0.84578	0.4106744879165094	0.40983	0.15649385473	0.17663	0.561686456203	0.47505	T	0.332136	0.70214	T	-0.247891	0.14357	T	-0.108582	0.62724	T	0.0308159269228664	0.02116	T	0.708429	0.31914	T	0.1731881	0.38053	0.20150833	0.44134	0.19779801	0.41658	0.19274431	0.42805	-5.332	0.41530	T	0.2845382040254147	0.38034	0.077	0.08224	B	.;.	.;.	3.715343	0.53063	23.3	0.9831473506384748	0.40183	0.94366	0.60936	D	AEFDBI	0.307346	0.41424	N	0.133832347341191	0.48048	3.02207	0.291880644635864	0.55064	3.669918	0.994288977095518	0.33568	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.91	5.91	0.95240	5.026000	0.63880	9.358000	0.80353	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	16.351	0.83046	803	0.44167	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	715.43	84	chr8	60820073	.	A	G	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.425;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=0.844;SOR=0.693	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,111,1665	9	0	1	0
chr8	61665358	61665358	C	T	exonic	ASPH	.	nonsynonymous SNV	ASPH:NM_032467:exon5:c.G526A:p.V176I,ASPH:NM_020164:exon6:c.G571A:p.V191I	Traboulsi syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0064425074672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.588	0.08273	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.57	0.54347	T	-0.23	0.10656	N	0.026	0.01577	-1.0337	0.19268	T	0.077	0.30859	T	8	0.027572304	0.00901	T	0.006443	0.16956	T	0.037	0.09474	0.355	0.35571	0.0138822411134	0.00435	.	.	.	.	.	.	.	.	.	.	-0.353548	0.04508	T	-0.745624	0.03659	T	0.0657105011039665	0.08036	T	0.328667	0.06851	T	.	.	.	.	.	.	.	.	-4.137	0.25833	T	.	.	0.064	0.01668	B	.;.	.;.	-0.798591	0.01110	0.050	0.547070304875103	0.05192	0.01380	0.04701	N	AEFGBHCI	0.040630	0.06071	N	-1.51919248489233	0.01723	0.075441	-1.65772242563516	0.01336	0.06031871	0.999999999954531	0.74766	0.562547	0.31514	0	0.588015	0.36545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.3	-8.6	0.00773	-3.076000	0.00678	-4.461000	0.02144	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.913000	0.44837	0.2067:0.6007:0.0:0.1925	9.918	0.40615	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	37.52	35	chr8	61665358	.	C	T	37.52	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.408;DP=583;ExcessHet=0.2348;FS=145.19;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=1.96;SOR=7.523	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	8	0	2	0
chr8	66051579	66051579	G	A	exonic	DNAJC5B	.	nonsynonymous SNV	DNAJC5B:NM_001349432:exon3:c.G32A:p.R11Q,DNAJC5B:NM_033105:exon3:c.G32A:p.R11Q	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0180698024901	0.0004	0.000399361	0.0011	9.619e-05	0.0005	0.0001	0.0085	0.0009	0.0011	0.0001	0.0008732	135	154602	rs139242175	0.0007	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0005	0.0002	0.0003	0	0.0003	0.0058	0.0007	0.0005	0.0005	0.0002	0.0013	0.0013	0.0007	0.0019	0.0006	0.0011	0.0011	0.0004	0.0004	0.0002	0	0.0003	0	0.0002	0.0136	0	0.0006	0.0005	0.0002	0.016	0.51853	D	0.048	0.48594	D	0.076	0.24253	B	0.06	0.26717	B	0.000001	0.84330	D	0.000000	0.999926	0.51308	D	1.35	0.33515	L	-0.68	0.72568	T	-3.43	0.69236	D	0.479	0.51405	-0.7065	0.60125	T	0.263	0.63361	T	10	0.006323993	0.00143	T	0.01807	0.40007	T	0.276	0.59253	.	.	0.848443425011	0.84698	0.6202549662963571	0.61958	0.232855055149	0.25818	0.409178078175	0.26343	T	0.125374	0.45104	T	-0.11221	0.34404	T	-0.00807264	0.69812	D	0.0584363548657262	0.06919	T	0.919108	0.70849	D	0.49091557	0.66558	0.30241546	0.56273	0.49091557	0.66558	0.30241546	0.56272	-5.816	0.44714	T	.	.	0.280	0.51306	B	.;.	.;.	4.443749	0.69020	25.3	0.99919187660994702	0.98654	0.91685	0.54046	D	AEFBI	0.585824	0.58410	D	0.101187153575826	0.46517	2.890952	0.299545562193816	0.55513	3.714274	0.999998574041018	0.74766	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	5.217000	0.65084	9.964000	0.82816	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	18.007	0.89134	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	1534.12	33	chr8	66051579	.	G	A	1534.12	.	AC=2;AF=0.1;AN=20;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.96;SOR=1.298	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1134	9	1	0	0
chr8	66135006	66135006	G	T	exonic	TRIM55	.	nonsynonymous SNV	TRIM55:NM_033058:exon3:c.G358T:p.D120Y,TRIM55:NM_184085:exon3:c.G358T:p.D120Y,TRIM55:NM_184086:exon3:c.G358T:p.D120Y,TRIM55:NM_184087:exon3:c.G358T:p.D120Y	.	427	1087	8	0	0	8	0.00366636	.	.	.	2230996	not_specified|TRIM55-related_disorder	MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.035562490966	0.0012	0.000399361	0.0007	0	0.0002	0	0	0.0008	0	0.0014	0.0006468	100	154602	rs61744335	0.0008	0.0008	0.0008	0.0009	0.0019	0.0008	0.0008	0.0014	0.0014	0.0001	0.0002	0.0002	2.52e-05	0	0.0019	0.0009	0.0008	0.0017	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0005	0.0014	0.0011	9.632e-05	0	0.0007	0.0003	0	0	0	0.0009	0.0005	0.0025	0.004	0.78490	D	0.002	0.79402	D	0.62	0.52359	P	0.551	0.59497	P	0.000077	0.52346	D	0.194486	0.999939	0.51612	D	1.7	0.43825	L	0.92	0.44461	T	-3.29	0.66206	D	0.576	0.60071	-0.7552	0.57662	T	0.206	0.56444	T	10	0.03018856	0.01145	T	0.035562	0.56429	D	0.176	0.44373	.	.	0.541512316009	0.53804	0.4956743390516269	0.49488	0.277218283334	0.30200	0.430978685617	0.29342	T	0.533712	0.83909	D	-0.3757	0.03315	T	-0.325674	0.41950	T	0.146655790138579	0.16834	T	0.860614	0.57621	D	0.6012477	0.72758	0.638803	0.78904	0.6012477	0.72759	0.638803	0.78904	-10.735	0.81394	D	.	.	0.153	0.44358	B	.;.;.;.	.;.;.;.	5.030070	0.83658	28.1	0.99332204342446062	0.59816	0.98099	0.79589	D	AEFDBI	0.810332	0.73360	D	0.374203796204005	0.60026	4.187437	0.432194381519009	0.63581	4.594785	0.99999997888494	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.51	5.51	0.81769	5.182000	0.64897	11.930000	0.99908	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.471000	0.28363	0.0:0.0:1.0:0.0	19.41	0.94658	812	0.42537	.;B-box-type zinc finger|B-box-type zinc finger|B-box-type zinc finger;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.017241	0.012195	0.000000	0.05	1061.43	96	chr8	66135006	.	G	T	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.444;DP=398;ExcessHet=0;FS=2.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.624;SOR=0.447	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	9	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	264.77	48	chr8	66493691	.	G	C	264.77	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-2.1;DP=618;ExcessHet=0.7463;FS=390.645;InbreedingCoeff=-0.2495;MLEAC=3;MLEAF=0.167;MQ=59.65;MQRankSum=0;QD=1.18;ReadPosRankSum=1.92;SOR=9.49	GT:AD:DP:GQ:PL	./.:30,0:30:0:0,0,524	6	0	3	1
chr8	67105905	67105905	T	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001291339:exon6:c.T168G:p.S56R,CSPP1:NM_001364870:exon7:c.T951G:p.S317R,CSPP1:NM_001363131:exon8:c.T942G:p.S314R,CSPP1:NM_001363133:exon8:c.T942G:p.S314R,CSPP1:NM_024790:exon8:c.T1050G:p.S350R,CSPP1:NM_001363132:exon9:c.T1023G:p.S341R,CSPP1:NM_001364869:exon9:c.T1131G:p.S377R,CSPP1:NM_001382391:exon9:c.T1023G:p.S341R	Joubert syndrome 21, Autosomal recessive	430	1091	1	0	0	1	0.000458085	0.0001	0.152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0273802146661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.917	0.39799	T	0.942	0.57405	P	0.563	0.49647	P	0.006314	0.32122	N	0.272597	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.69	0.20145	N	0.321	0.36148	-0.7964	0.55356	T	0.214	0.57468	T	9	0.15428585	0.29105	T	0.02738	0.50196	D	0.069	0.20116	.	.	0.394384168047	0.39052	0.09017730564918405	0.08950	0.140679475827	0.15870	0.39053183794	0.23745	T	.	.	.	-0.0992519	0.36549	T	-0.380345	0.35682	T	0.321059554815292	0.25865	T	0.70353	0.31362	T	.	.	.	.	.	.	.	.	-3.864	0.21764	T	.	.	0.269	0.50352	B	.;.	.;.	0.841514	0.12131	8.683	0.9817436409206044	0.38890	0.02804	0.07527	N	AEFBI	0.052678	0.09426	N	-0.835364276564482	0.12413	0.6049091	-0.962412582701977	0.10636	0.5369504	0.744447307038152	0.23263	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.59	-2.79	0.05494	-0.045000	0.11957	.	.	-0.191000	0.09375	0.085000	0.22462	0.000000	0.08366	0.031000	0.13245	0.1416:0.2187:0.1455:0.4942	1.212	0.01792	429	0.80881	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	776.43	33	chr8	67105905	.	T	G	776.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.335;DP=389;ExcessHet=0;FS=1.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=1.2;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	9	0	1	0
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	140.16	39	chr8	67267206	.	T	G	140.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.544;DP=727;ExcessHet=0.2348;FS=291.052;InbreedingCoeff=-0.3374;MLEAC=3;MLEAF=0.375;MQ=59.95;MQRankSum=0;QD=1.01;ReadPosRankSum=2.15;SOR=8.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,11:62:99:0|1:67267202_T_G:120,0,1377:67267202	2	0	2	6
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	89.52	23	chr8	67299229	.	C	T	89.52	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.553;DP=150;ExcessHet=0.8432;FS=83.804;InbreedingCoeff=-0.3031;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.49;SOR=6.271	GT:AD:DP:GQ:PL	./.:10,0:10:0:0,0,131	5	0	3	2
chr8	69629590	69629590	G	A	exonic	SULF1	.	nonsynonymous SNV	SULF1:NM_001128204:exon18:c.G2195A:p.R732Q,SULF1:NM_001128206:exon18:c.G2195A:p.R732Q,SULF1:NM_001128205:exon19:c.G2195A:p.R732Q,SULF1:NM_015170:exon19:c.G2195A:p.R732Q	.	404	1111	7	0	0	7	0.00314042	.	.	.	723178	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.125	0.00741471179335	0.0002	0.000599042	0.0007	0	0.0002	0	0	0.0004	0	0.0036	0.0006339	98	154602	rs199542001	0.0004	0.0004	0.0003	0.0005	0.0039	0.0004	0.0004	0.0035	0.0034	0	0.0003	0.0042	0	0	0.0012	6.565e-05	0.0007	0.0039	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0024	0.0020	0	0	0.0018	0.0052	0	0	0	8.821e-05	0.0019	0.0037	0.185	0.21550	T	0.172	0.43344	T	0.044	0.21686	B	0.004	0.10090	B	0.000898	0.41231	D	0.198136	0.99982	0.49512	D	2.435	0.70606	M	1.89	0.23688	T	-2.31	0.51319	N	0.59	0.61596	-1.0920	0.05207	T	0.066	0.27260	T	10	0.0071305335	0.00162	T	0.007415	0.19657	T	0.125	0.34456	.	.	0.302481332339	0.29867	0.5744858866589331	0.57377	0.461733961732	0.45710	0.660630345345	0.61500	T	0.291624	0.66437	T	-0.380878	0.03076	T	-0.321671	0.42391	T	0.08421851722409	0.10518	T	0.941106	0.79334	D	0.13173449	0.30697	0.11051596	0.26649	0.13173449	0.30697	0.11051596	0.26649	-7.79	0.59630	D	.	.	0.177	0.46109	B	.;.;.;.;.	.;.;.;.;.	3.559955	0.50089	22.9	0.99921551528046004	0.98787	0.95588	0.65322	D	AEFDGBI	0.631166	0.61224	D	-0.0324083859905615	0.40391	2.397884	0.105600365024078	0.44834	2.757597	0.999999999507483	0.74766	0.718356	0.82227	0	0.610034	0.51514	0	0.645312	0.48771	0	0.553173	0.17726	1	.	.	4.62	4.62	0.56946	4.876000	0.62772	11.696000	0.94428	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.656	0.88081	905	0.23532	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	996.43	34	chr8	69629590	.	G	A	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=403;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-0.402;SOR=0.84	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1446	9	0	1	0
chr8	69832177	69832177	T	A	exonic	SLCO5A1	.	nonsynonymous SNV	SLCO5A1:NM_001146008:exon1:c.A497T:p.E166V,SLCO5A1:NM_001146009:exon1:c.A497T:p.E166V,SLCO5A1:NM_030958:exon2:c.A497T:p.E166V	.	433	1084	5	0	0	5	0.00230097	.	.	.	1356304	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.423	0.0351771340259	0.0004	0.000199681	0.0003	0	0.0002	0	0	0.0003	0	0.0012	0.0002781	43	154602	rs373889949	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0013	0.0012	0	4.472e-05	0	0	0	0.0010	0.0002	0.0003	0.0015	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	4.815e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0006	0.051	0.40068	T	0.008	0.67890	D	0.998	0.73220	D	0.984	0.76113	D	0.000004	0.62929	D	0.103032	0.999999	0.58761	D	1.62	0.41497	L	0.29	0.58897	T	-2.31	0.60348	N	0.915	0.93252	-0.6751	0.61598	T	0.299	0.67055	T	10	0.33291394	0.50490	T	0.035177	0.56172	D	0.423	0.73152	.	.	0.848875118117	0.84742	0.7618792454894285	0.76135	0.812531241753	0.66800	0.799961924553	0.81957	T	0.044187	0.26736	T	-0.0133987	0.49789	T	0.167444	0.81257	D	0.0978043526411057	0.12114	T	0.914708	0.69569	D	0.490999	0.66562	0.56502646	0.74825	0.490999	0.66563	0.56502646	0.74825	-11.146	0.81352	D	.	.	0.683	0.80602	P	.;.;.	.;.;.	5.389893	0.90296	31	0.99289982283901912	0.58219	0.92567	0.56015	D	AEFDBCI	0.952528	0.96806	D	0.592613201604559	0.72711	5.849156	0.624118396965934	0.76696	6.538723	0.999999999999981	0.74766	0.59774	0.34471	0	0.484254	0.07192	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.71	5.71	0.89031	8.014000	0.88267	6.175000	0.54547	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.990	0.79987	895	0.25842	Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2163.43	68	chr8	69832177	.	T	A	2163.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.934;DP=534;ExcessHet=0;FS=1.158;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.295;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1146	9	0	1	0
chr8	70128911	70128911	C	T	exonic	NCOA2	.	nonsynonymous SNV	NCOA2:NM_001321711:exon16:c.G3187A:p.V1063I,NCOA2:NM_001321712:exon16:c.G3187A:p.V1063I,NCOA2:NM_001321713:exon16:c.G2932A:p.V978I,NCOA2:NM_001321703:exon17:c.G3394A:p.V1132I,NCOA2:NM_001321707:exon17:c.G3394A:p.V1132I,NCOA2:NM_006540:exon17:c.G3394A:p.V1132I	.	.	.	.	.	.	.	.	.	.	.	723180	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.00760460723848	0.0024	0.00299521	0.0012	0.0080	0.0029	0.0001	0.0002	0.0004	0.0027	0	0.0009832	152	154602	rs115177449	0.0006	0.0006	0.0007	0.0006	0.0080	0.0006	0.0006	0.0072	0.0069	0.0080	0.0024	0	0.0001	5.623e-05	0.0029	0.0003	0.0017	1.163e-05	0.0027	0.0027	0.0030	0.0023	0.0072	0.0024	0.0024	0.0066	0.0063	0.0072	0	0.0039	0	0	0	0.0034	0.0005	0.0043	0	0.043	0.41364	D	0.262	0.22895	T	0.176	0.28893	B	0.032	0.22131	B	0.000048	0.53742	N	0.166901	0.69918	0.30119	N	0.805	0.20218	L	1.04	0.40218	T	0.26	0.04380	N	0.206	0.22870	-0.9477	0.41364	T	0.072	0.29259	T	10	0.006502062	0.00147	T	0.007605	0.20166	T	0.042	0.11227	.	.	0.297458270211	0.29361	0.07194616362803742	0.07131	0.110045376786	0.12417	0.351100385189	0.18084	T	0.056914	0.30421	T	-0.545359	0.00311	T	-0.551722	0.17161	T	0.0139815933477277	0.00269	T	0.79622	0.43953	T	0.049785756	0.08895	0.054833874	0.09504	0.049785756	0.08895	0.054833874	0.09504	-4.426	0.29907	T	.	.	0.073	0.04806	B	.	.	2.748615	0.36020	20.1	0.99507470229721684	0.68440	0.88894	0.49047	D	AEFBI	0.104581	0.20921	N	-0.102608325971151	0.37278	2.166576	0.0131877885755622	0.40326	2.404869	0.963612355825865	0.28703	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.88	5.0	0.66209	2.960000	0.48853	4.933000	0.46146	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.8018:0.1297:0.0685	10.792	0.45642	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.025253	0.010870	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3135.12	37	chr8	70128911	.	C	T	3135.12	.	AC=2;AF=0.1;AN=20;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.5;SOR=0.976	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1349	9	1	0	0
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	145.15	38	chr8	72568126	.	T	C	145.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.203;DP=622;ExcessHet=0.2348;FS=102.733;InbreedingCoeff=-0.1114;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=-0.108;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,16:100:55:.:.:55,0,1759:.	8	0	2	0
chr8	73292779	73292782	AACC	-	exonic	RPL7	.	frameshift deletion	RPL7:NM_000971:exon2:c.30_33del:p.E10Dfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	146.39	79	chr8	73292778	.	GAACC	G	146.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.61;DP=724;ExcessHet=0;FS=39.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.98;SOR=4.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:67,0:67:99:.:.:0,120,1800:.	9	0	1	0
chr8	73292782	73292782	-	GGGG	exonic	RPL7	.	frameshift insertion	RPL7:NM_000971:exon2:c.29_30insCCCC:p.E10Dfs*11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	150.71	68	chr8	73292782	.	C	CGGGG	150.71	.	AC=1;AF=0.063;AN=16;DP=627;ExcessHet=0;FS=38.595;InbreedingCoeff=-0.1127;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=2.51;ReadPosRankSum=2.01;SOR=4.607	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:57,0:57:0:.:.:0,0,1235:.	7	0	1	2
chr8	73552155	73552155	T	C	exonic	STAU2	.	nonsynonymous SNV	STAU2:NM_001164383:exon8:c.A871G:p.T291A,STAU2:NM_001164385:exon10:c.A1273G:p.T425A,STAU2:NM_001164382:exon11:c.A1075G:p.T359A,STAU2:NM_001164384:exon11:c.A1291G:p.T431A,STAU2:NM_001164381:exon12:c.A1291G:p.T431A,STAU2:NM_014393:exon12:c.A1291G:p.T431A,STAU2:NM_001164380:exon13:c.A1387G:p.T463A	.	.	.	.	.	.	.	.	.	.	.	2217453	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.095	0.00662923856107	0.0002	.	5.769e-05	0	0	0	0	0.0001	0	0	5.17e-05	8	154602	rs145795257	5.336e-05	5.336e-05	5.99e-05	4.676e-05	0.0002	4.344e-05	4.018e-05	5.248e-05	4.823e-05	0	0	3.827e-05	2.52e-05	0	0.0002	6.476e-05	3.312e-05	1.159e-05	4.6e-05	4.596e-05	5.138e-05	4.035e-05	0.0001	2.109e-05	1.527e-05	4.766e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.393	0.16574	T	0.695	0.28120	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.62929	D	0.098617	0.989469	0.42444	D	0.895	0.22405	L	0.53	0.55090	T	-0.85	0.41809	N	0.293	0.37093	-1.0796	0.07426	T	0.081	0.31913	T	10	0.080525994	0.13080	T	0.006629	0.17501	T	0.095	0.27398	.	.	0.0675242888579	0.06100	0.40939452534728277	0.40855	0.25520024391	0.28107	0.425389230251	0.28578	T	0.008045	0.14853	T	-0.341115	0.05311	T	-0.468085	0.25723	T	0.0289996426475553	0.01838	T	0.487251	0.28590	T	0.047288023	0.08058	0.05570383	0.09822	0.047288023	0.08058	0.05570383	0.09821	-2.6	0.10010	T	.	.	0.063	0.02370	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.898157	0.24109	16.27	0.90007651411578504	0.19298	0.76502	0.37525	D	AEFDGIJ	0.148356	0.27222	N	-0.409414175954376	0.25137	1.362413	-0.24361333460125	0.29992	1.68489	0.999998035121315	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	4.6	3.41	0.38145	1.154000	0.31299	1.085000	0.23927	0.665000	0.62972	0.971000	0.34370	0.987000	0.30940	1.000000	0.97212	0.0:0.1561:0.1612:0.6827	4.952	0.13370	804	0.43891	Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;Staufen, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	837.43	35	chr8	73552155	.	T	C	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.442;DP=372;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.647;SOR=0.317	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	9	0	1	0
chr8	76853062	76853062	-	CCT	exonic	ZFHX4	.	nonframeshift insertion	ZFHX4:NM_024721:exon10:c.6141_6142insCCT:p.P2061_S2062insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	1.29e-05	2	154602	rs767837573	0.0002	0.0003	0.0002	0.0002	0.0020	0.0002	0.0002	0.0007	0.0004	7.413e-05	0.0002	0	0.0001	3.542e-05	0.0020	0.0003	0.0003	0.0002	0.0003	0.0008	0.0003	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0004	0	0.0002	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2845.12	36	chr8	76853062	.	A	ACCT	2845.12	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=460;ExcessHet=0.7463;FS=6.403;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.428;SOR=1.134	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	9	0	1	0
chr8	76855923	76855923	G	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.G9002T:p.G3001V	.	0	1515	6	1	0	8	0.00263331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0189141440889	.	.	0.0002	0	0	0	0	0.0002	0	0.0002	0.0001358	21	154602	rs775483953	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.987e-05	8.945e-05	0	0	0	0.0016	0.0001	0.0003	0.0003	0.0001	0.0001	0.0001	0.0001	0.0004	8.163e-05	6.72e-05	0.0001	8.276e-05	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0004	0.133	0.26965	T	0.02	0.58613	D	.	.	.	.	.	.	0.000545	0.43413	U	0.000000	0.999999	0.58761	D	.	.	.	0.76	0.49919	T	-3.4	0.67014	D	0.812	0.83885	-0.8487	0.52058	T	0.188	0.53856	T	10	0.57749903	0.65662	D	0.018914	0.41124	T	0.116	0.32463	.	.	0.151262610727	0.14761	0.3314716088228594	0.33060	0.745215368808	0.63480	0.629379987717	0.57057	T	.	.	.	-0.252592	0.13783	T	-0.304415	0.44256	T	0.0403428257376543	0.03752	T	0.909009	0.75832	D	.	.	.	.	.	.	.	.	-10.121	0.74633	D	.	.	.	.	.	.;.	.;.	4.144916	0.62127	24.4	0.98160377569070678	0.38764	0.90834	0.52348	D	AEFGBCI	0.600726	0.59325	D	0.138983390260452	0.48291	3.043211	0.224317805746591	0.51200	3.304621	0.999999749683575	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.17	5.17	0.70848	5.250000	0.65252	11.936000	0.99985	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.345000	0.25546	0.0:0.1405:0.8595:0.0	15.254	0.73267	793	0.45818	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1958.43	36	chr8	76855923	.	G	T	1958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.131;DP=602;ExcessHet=0;FS=4.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-1.212;SOR=0.491	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr8	80664894	80664894	G	A	exonic	ZNF704	.	nonsynonymous SNV	ZNF704:NM_001033723:exon6:c.C848T:p.T283M,ZNF704:NM_001367783:exon6:c.C1370T:p.T457M	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0400051280716	.	0.000798722	0.0007	9.61e-05	0.0007	0	0	8.99e-05	0	0.0046	0.0006404	99	154602	rs201218880	0.0004	0.0004	0.0002	0.0005	0.0044	0.0003	0.0003	0.0041	0.0039	0.0001	0.0004	0	0	0	0.0019	8.903e-05	0.0004	0.0044	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	4.812e-05	0	0.0002	0	0	0	0	0.0001	0	0.0041	0.106	0.29688	T	0.093	0.39799	T	0.999	0.77913	D	0.862	0.61339	P	0.016053	0.28081	N	0.406531	0.999998	0.58761	D	1.87	0.49600	L	-1.71	0.83157	D	-0.75	0.21003	N	0.524	0.55366	0.155	0.85147	D	0.591	0.85360	D	10	0.005846262	0.00131	T	0.040005	0.59133	D	0.359	0.67962	.	.	0.278043722374	0.27408	0.2220069090381585	0.22115	1.37515071505	0.84646	0.578011214733	0.49805	T	0.065232	0.32637	T	-0.292796	0.09358	T	-0.193365	0.55273	T	0.0388424032451896	0.03482	T	0.894511	0.63379	D	0.062421154	0.13036	0.079098515	0.17778	0.062421154	0.13035	0.079098515	0.17778	-4.674	0.33088	T	.	.	0.081	0.08272	B	.	.	3.637155	0.51552	23.1	0.99660534785811494	0.77883	0.97489	0.75080	D	AEFI	0.620191	0.60534	D	0.581690128476075	0.72033	5.742392	0.623162075698933	0.76624	6.525747	0.999999998424505	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	3.628000	0.54000	5.739000	0.49563	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.644	0.99572	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2405.43	36	chr8	80664894	.	G	A	2405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.539;DP=554;ExcessHet=0;FS=3.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.353;SOR=0.49	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1170	9	0	1	0
chr8	85250939	85250939	T	C	splicing	CA13	NM_198584:exon2:c.235+2T>C	.	.	.	.	.	.	.	.	.	.	0.9999	0.898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.657e-05	0	8.649e-05	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs767376724	2.738e-06	2.736e-06	0	5.504e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.8e-06	0	1.16e-05	6.587e-06	6.573e-06	1.287e-05	0	6.563e-05	0	0	.	.	0	0	6.563e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15527	0.69761	D	-0.014742	0.69375	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.736023	0.76327	26.5	0.97819436882980026	0.36181	0.99381	0.95289	D	AEFI	.	.	.	0.860414606237816	0.89692	10.078	0.653495242298954	0.78872	6.964331	0.999974726514976	0.50053	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.826211	0.49445	5.41	4.26	0.49832	4.785000	0.62110	7.794000	0.68965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.0733:0.0:0.9267	10.954	0.46558	782	0.47442	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1278.43	34	chr8	85250939	.	T	C	1278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.232;DP=425;ExcessHet=0;FS=0.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.123;SOR=0.558	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1393	9	0	1	0
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019637	0.000000	0.010870	0.032164	0.000000	0.017241	0.027439	0.022727	0.05	934.43	40	chr8	86064021	.	T	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.433;DP=405;ExcessHet=0;FS=6.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.096;SOR=0.26	GT:AD:DP:GQ:PL	0/1:34,44:78:99:946,0,770	9	0	1	0
chr8	86576035	86576055	TTTATCTTCATTTTCTTTTTG	-	exonic	CNGB3	.	nonframeshift deletion	CNGB3:NM_019098:exon18:c.2179_2199del:p.Q727_K733del	Achromatopsia 3, Autosomal recessive;Macular degeneration, juvenile, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	612831	Achromatopsia|Severe_early-childhood-onset_retinal_dystrophy|not_provided|not_specified|Achromatopsia_3	Human_Phenotype_Ontology:HP:0011516,MONDO:MONDO:0018852,MedGen:C0152200,Orphanet:49382|MONDO:MONDO:0009549,MeSH:D000080362,MedGen:C1855465,OMIM:248200,Orphanet:364055,Orphanet:827|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0740	.	0.0009	0.0075	0.0003	0.0014	0	0.0002	0.0011	0.0004	3.84e-05	1	26028	rs746549330	0.0004	0.0004	0.0004	0.0004	0.0070	0.0003	0.0003	0.0062	0.0059	0.0070	0.0006	3.835e-05	0.0013	3.75e-05	0.0005	0.0001	0.0009	0.0002	0.0027	0.0028	0.0028	0.0027	0.0090	0.0025	0.0024	0.0082	0.0079	0.0090	0	0.0012	0	0.0006	0	0.0034	0.0001	0.0052	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	789.39	34	chr8	86576034	.	CTTTATCTTCATTTTCTTTTTG	C	789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.059;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=0.461;SOR=0.515	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	9	0	1	0
chr8	86743498	86743498	C	T	splicing	CNGB3	NM_019098:exon1:c.129+1G>A	.	.	Achromatopsia 3, Autosomal recessive;Macular degeneration, juvenile, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.904	YES	2905097	not_provided|Achromatopsia_3	MedGen:C3661900|MONDO:MONDO:0009875,MedGen:C1849792,OMIM:262300,Orphanet:49382	criteria_provided,_multiple_submitters,_no_conflicts	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	8.238e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs770096659	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.041e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.041e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467878	0.93251	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.662650	0.74439	26.2	0.99034639283062742	0.50873	0.94087	0.60073	D	AEFBI	.	.	.	0.971340833229081	0.94793	13.045	0.794744481386353	0.89424	9.969844	0.901924456256422	0.26113	0.053691	0.00478	0	0.063388	0.01293	0	0.063197	0.01477	0	0.062806	0.01542	0	0.961152	0.65875	5.96	5.96	0.96695	2.984000	0.49043	4.678000	0.44308	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	17.152	0.86659	.	.	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1098.43	35	chr8	86743498	.	C	T	1098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.627;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	9	0	1	0
chr8	90645796	90645796	G	A	exonic	TMEM64	.	nonsynonymous SNV	TMEM64:NM_001008495:exon1:c.C110T:p.A37V,TMEM64:NM_001146273:exon1:c.C110T:p.A37V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.189341423033	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338456085	0	2.599e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.46129	D	0.081	0.41742	T	0.034	0.20480	B	0.003	0.08700	B	0.781726	0.09466	U	0.858235	1	0.81001	D	0.895	0.22405	L	.	.	.	-0.37	0.13226	N	0.041	0.01498	-1.0065	0.28004	T	0.070	0.28740	T	9	0.094139844	0.16715	T	0.189341	0.86057	D	0.058	0.16647	0.13	0.03494	0.0297737177859	0.01360	0.2636008175918245	0.26273	1.69393018252	0.90178	0.836562514305	0.87570	D	0.011938	0.10575	T	-0.0838151	0.39092	T	-0.358171	0.38263	T	0.186152171711834	0.19615	T	0.464953	0.13579	T	0.10106624	0.23869	0.19071323	0.42489	0.10106624	0.23869	0.19071323	0.42488	-5.236	0.40366	T	.	.	0.127	0.27313	B	.;.	.;.	1.131159	0.15179	11.65	0.99317382390405595	0.59241	0.09507	0.15247	N	ALL	0.067105	0.13174	N	-0.877480206419568	0.11380	0.5488562	-0.88822155726126	0.12372	0.6360523	0.99999999948597	0.74766	0.006267	0.00052	3	0.166054	0.03914	2	0.47417	0.07244	0	0.56214	0.19341	0	.	.	2.9	0.641	0.16930	0.173000	0.16538	0.576000	0.19656	0.342000	0.19800	0.000000	0.06391	0.005000	0.19230	0.094000	0.17991	0.0:0.3464:0.6536:0.0	11.401	0.49114	843	0.36859	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	36.85	.	chr8	90645796	.	G	A	36.85	.	AC=2;AF=0.167;AN=12;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.43;SOR=0.693	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,99	5	1	0	4
chr8	94130936	94130936	C	T	exonic	CDH17	.	nonsynonymous SNV	CDH17:NM_001144663:exon16:c.G2224A:p.V742I,CDH17:NM_004063:exon16:c.G2224A:p.V742I	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00549291609984	7.7e-05	0.000399361	0.0001	0	0.0002	0.0003	0	3e-05	0	0.0004	9.7e-05	15	154602	rs139170804	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0023	0.0021	5.979e-05	2.238e-05	0	0.0027	7.491e-05	0.0017	7.568e-05	0.0003	0.0005	9.858e-05	0.0001	8.999e-05	0.0001	0.0008	6.008e-05	4.881e-05	0.0003	0.0002	0	0	0.0001	0	0.0008	9.452e-05	0	0.0001	0	0	0.728	0.05881	T	1.0	0.01155	T	0.02	0.28372	B	0.003	0.25678	B	0.991796	0.08025	N	0.995541	1	0.08975	N	0.17	0.09006	N	1.23	0.36872	T	-0.17	0.09627	N	0.116	0.15749	-0.9766	0.35772	T	0.037	0.15770	T	10	0.017949075	0.00387	T	0.005493	0.14136	T	0.024	0.04979	.	.	0.119812018005	0.11559	0.32372629705448863	0.32285	0.0567339573139	0.06270	0.329535186291	0.14863	T	0.113554	0.43068	T	-0.53628	0.00353	T	-0.680145	0.06974	T	0.0262707159627438	0.01443	T	0.657134	0.26688	T	0.024890456	0.01368	0.024684494	0.00493	0.024890456	0.01367	0.024684494	0.00493	-4.448	0.30203	T	.	.	0.070	0.04889	B	.;.;.	.;.;.	-1.081243	0.00663	0.018	0.42202741069062016	0.03095	0.00439	0.02144	N	AEFBI	0.041717	0.06380	N	-1.72864751017864	0.00745	0.03217032	-1.81422465451657	0.00715	0.03184284	0.683815084908233	0.22511	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.67	-9.46	0.00504	-2.090000	0.01444	-5.870000	0.01569	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1074:0.6845:0.0:0.2082	13.492	0.60855	815	0.41851	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	859.43	98	chr8	94130936	.	C	T	859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.573;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1203:.	9	0	1	0
chr8	94726334	94726334	C	T	exonic	DPY19L4	.	nonsynonymous SNV	DPY19L4:NM_181787:exon2:c.C20T:p.P7L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0055	0.00599042	0.0017	0.0184	0.0012	0	0	1.516e-05	0.0011	0	0.001533	237	154602	rs138373475	0.0006	0.0006	0.0007	0.0005	0.0224	0.0006	0.0006	0.0210	0.0205	0.0224	0.0011	0	0	0	0.0009	4.514e-06	0.0014	0.0002	0.0056	0.0056	0.0060	0.0051	0.0198	0.0052	0.0051	0.0186	0.0182	0.0198	0	0.0009	0	0	0	0.0034	0	0.0043	0.0002	0.0	0.91255	D	0.068	0.44106	T	0.008	0.14655	B	0.016	0.17743	B	0.977849	0.07821	N	1.009930	0.999987	0.18198	N	0.345	0.11182	N	-0.01	0.62762	T	-0.18	0.32590	N	0.21	0.23380	-0.9997	0.30002	T	0.046	0.19720	T	10	0.0014688671	0.00016	T	.	.	.	0.086	0.25016	.	.	0.344251166708	0.34027	0.35486829341326187	0.35400	0.116386348577	0.13130	0.438483595848	0.30370	T	0.004071	0.03483	T	-0.490868	0.00643	T	-0.462279	0.26352	T	0.0782336133960713	0.09759	T	0.708429	0.31914	T	0.06441633	0.13665	0.07581938	0.16732	0.06441633	0.13665	0.07581938	0.16732	-4.73	0.33765	T	.	.	0.075	0.05535	B	.;.	.;.	3.051788	0.40954	21.3	0.99340394991751402	0.60170	0.29989	0.23966	N	AEFBI	0.145817	0.26912	N	-0.362757390062295	0.26806	1.465845	-0.199680266032773	0.31548	1.786466	0.999999234808958	0.74766	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.35	5.35	0.76297	3.113000	0.50069	2.701000	0.34161	0.581000	0.30040	0.091000	0.22601	0.760000	0.26617	0.982000	0.59238	0.0:1.0:0.0:0.0	19.038	0.92968	408	0.82256	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.015306	0.000000	0.008824	0.000000	0.000000	0.000000	0.003788	0.05	607.43	33	chr8	94726334	.	C	T	607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=339;ExcessHet=0;FS=2.557;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.67;SOR=0.368	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1131	9	0	1	0
chr8	94765252	94765252	G	C	exonic	DPY19L4	.	nonsynonymous SNV	DPY19L4:NM_181787:exon9:c.G940C:p.A314P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	.	0.0012	0.00299521	0.0004	0.0037	0.0008	0	0	0	0.0011	0	0.0004075	63	154602	rs144794373	0.0002	0.0002	0.0002	0.0002	0.0059	0.0002	0.0002	0.0053	0.0050	0.0059	0.0005	0	0	0	0.0005	9.002e-07	0.0006	0.0001	0.0012	0.0012	0.0012	0.0012	0.0043	0.0011	0.0010	0.0038	0.0036	0.0043	0	0.0003	0	0	0	0	0	0.0019	0.0002	0.026	0.46910	D	0.067	0.44302	T	0.999	0.77913	D	0.972	0.72692	D	0.000949	0.40932	D	0.244295	0.999412	0.46970	D	2.075	0.57047	M	0.48	0.55945	T	-1.18	0.30140	N	0.816	0.81162	-0.6931	0.60763	T	0.131	0.44188	T	10	0.024789244	0.00695	T	.	.	.	0.247	0.55478	.	.	0.564872276104	0.56150	0.7668205267624494	0.76631	0.59136320463	0.54574	0.527613580227	0.42698	T	0.009663	0.08788	T	-0.200627	0.20715	T	-0.0606961	0.66283	T	0.0114857362437122	0.00173	T	0.939806	0.77272	D	0.62430835	0.73994	0.48933357	0.70453	0.62430835	0.73995	0.48933357	0.70453	-6.865	0.53041	T	.	.	0.306	0.53495	B	.	.	4.172623	0.62756	24.5	0.99798435876579039	0.88372	0.95397	0.64560	D	AEFBI	0.761034	0.69887	D	0.609298694539313	0.73762	6.019392	0.597725134196861	0.74777	6.195013	0.98776872104017	0.31338	0.661447	0.50134	0	0.653731	0.59785	0	0.463624	0.06942	0	0.567339	0.31927	0	.	.	5.19	5.19	0.71428	4.050000	0.57117	8.507000	0.77377	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	18.714	0.91633	409	0.82198	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	580.43	36	chr8	94765252	.	G	C	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=361;ExcessHet=0;FS=1.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.771;SOR=0.859	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,986	9	0	1	0
chr8	94940181	94940186	TCTTCT	-	exonic	TP53INP1	.	nonframeshift deletion	TP53INP1:NM_001135733:exon3:c.147_152del:p.E51_E52del,TP53INP1:NM_033285:exon3:c.147_152del:p.E51_E52del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.572e-05	0.0001	0	0	0	3.08e-05	0	0	1.94e-05	3	154602	rs767017254	1.51e-05	2.531e-05	1.502e-05	1.517e-05	0.0009	9.88e-06	8.44e-06	0.0003	0.0002	0	0	0	2.521e-05	0	0.0009	1.173e-05	1.662e-05	2.324e-05	1.973e-05	1.971e-05	0	4.041e-05	2.942e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	787.39	33	chr8	94940180	.	CTCTTCT	C	787.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.582;DP=385;ExcessHet=0;FS=2.377;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0;SOR=0.393	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	9	0	1	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.15	2618.45	35	chr8	97930977	.	C	T	2618.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.945;DP=436;ExcessHet=0.7463;FS=3.526;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.489;SOR=0.957	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	7	0	3	0
chr8	98089316	98089316	C	T	exonic	ERICH5	.	nonsynonymous SNV	ERICH5:NM_173549:exon2:c.C299T:p.S100F	.	416	1084	21	1	0	23	0.0104975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0049	0.00319489	0.0043	0.0014	0.0028	0	0.0008	0.0065	0.0044	0.0019	0.0046118	713	154602	rs34144950	0.0061	0.0061	0.0061	0.0062	0.0106	0.0060	0.0060	0.0085	0.0077	0.0008	0.0032	3.826e-05	0	0.0011	0.0106	0.0073	0.0062	0.0017	0.0044	0.0044	0.0049	0.0039	0.0074	0.0042	0.0040	0.0069	0.0067	0.0009	0	0.0067	0.0003	0	0.0008	0.0068	0.0074	0.0052	0.0010	0.042	0.41637	D	0.036	0.52060	D	0.899	0.49514	P	0.667	0.53020	P	0.618651	0.10799	N	0.800473	1	0.08975	N	1.525	0.38595	L	0.79	0.49068	T	-3.78	0.71519	D	0.232	0.26111	-1.0065	0.28004	T	0.115	0.40875	T	10	0.008595943	0.00195	T	.	.	.	0.060	0.17295	.	.	0.332902724076	0.32905	0.035470728247831686	0.03494	0.159704334051	0.18023	.	.	.	0.048359	0.27994	T	-0.538225	0.00343	T	-0.536505	0.18641	T	0.0409072582646112	0.03854	T	0.555844	0.19272	T	0.110806584	0.26188	0.12128935	0.29265	0.110806584	0.26188	0.12128935	0.29265	-5.607	0.42856	T	.	.	0.142	0.31125	B	.	.	2.439666	0.31399	18.73	0.99440510548239747	0.64720	0.10520	0.16004	N	AEFDBI	0.106676	0.21277	N	-0.432944068937169	0.24322	1.312446	-0.593839667217455	0.19652	1.055397	0.014842906693891	0.12645	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.71	2.86	0.32427	1.611000	0.36490	1.097000	0.24034	-0.224000	0.07868	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.1849:0.6369:0.1782:0.0	7.861	0.28672	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.015152	0.005435	0.000000	0.000000	0.008621	0.006098	0.007576	0.05	957.43	38	chr8	98089316	.	C	T	957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.514;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-0.399;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1011	9	0	1	0
chr8	98222544	98222544	T	G	exonic	NIPAL2	.	nonsynonymous SNV	NIPAL2:NM_001321635:exon5:c.A493C:p.T165P,NIPAL2:NM_001321636:exon5:c.A493C:p.T165P,NIPAL2:NM_024759:exon5:c.A493C:p.T165P	.	430	1065	26	1	0	28	0.012975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.420	.	0.0011	0.0375399	0.0193	0.0012	0.0202	0.2057	0	0.0013	0.0165	0.0132	0.017613	2723	154602	rs77774174	0.0072	0.0072	0.0072	0.0073	0.1687	0.0071	0.0071	0.1653	0.1639	0.0009	0.0173	0.0040	0.1687	5.616e-05	0.0062	0.0008	0.0141	0.0133	0.0094	0.0094	0.0078	0.0110	0.1924	0.0090	0.0088	0.1825	0.1785	0.0011	0	0.0116	0.0066	0.1924	0.0002	0.0068	0.0010	0.0137	0.0170	0.37	0.11586	T	0.186	0.29153	T	0.007	0.14184	B	0.007	0.12992	B	0.056835	0.22529	N	0.459579	0.795011	0.29181	N	0.915	0.23335	L	-2.69	0.90451	D	-1.12	0.28906	N	0.056	0.02759	-0.3131	0.74617	T	0.553	0.83644	D	10	0.0015859604	0.00018	T	.	.	.	0.420	0.72930	.	.	.	.	0.606460631242737	0.60577	0.198447039188	0.22225	0.412601977587	0.26817	T	0.388325	0.74903	T	-0.351197	0.04652	T	-0.133426	0.60682	T	0.00200710036842292	0.00021	T	0.521748	0.17009	T	0.20699102	0.42892	0.13713561	0.32787	0.20699102	0.42891	0.13713561	0.32786	-6.81	0.52633	T	.	.	0.075	0.10062	B	.;.	.;.	2.022096	0.25697	16.86	0.98626904810657023	0.43852	0.73112	0.35767	D	AEFBI	0.310864	0.41676	N	-0.280823762495684	0.29888	1.66157	-0.137897212033714	0.33877	1.942581	0.443869239457615	0.20476	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.71	3.3	0.36912	0.499000	0.22254	1.994000	0.30091	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.1491:0.0802:0.0:0.7707	5.746	0.17388	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1937.43	158	chr8	98222544	.	T	G	1937.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.355;DP=480;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.566;SOR=0.779	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	9	0	1	0
chr8	99507844	99507844	G	A	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon28:c.G4232A:p.R1411H	Cohen syndrome, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	1199777	Cohen_syndrome	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0176064570398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-06	5.472e-06	4.084e-06	5.501e-06	0.0002	1.99e-06	1.28e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	2.319e-05	6.574e-06	6.568e-06	0	1.346e-05	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	0.211	0.19569	T	0.17	0.30436	T	0.997	0.70673	D	0.745	0.55870	P	0.000039	0.55875	D	0.121672	0.99991	0.81001	D	1.67	0.42885	L	0.88	0.46028	T	-0.78	0.21644	N	0.368	0.40963	-0.9616	0.38877	T	0.160	0.49397	T	10	0.35104582	0.51963	T	0.017606	0.39377	T	0.172	0.43662	0.434	0.48500	0.664903063441	0.66208	0.2836232957759583	0.28275	0.213654222059	0.23881	0.686697244644	0.65230	T	0.101973	0.40924	T	-0.0607704	0.42788	T	-0.325069	0.42016	T	0.884189009666443	0.53441	D	0.873813	0.58316	D	0.109813355	0.25960	0.0921764	0.21709	0.109813355	0.25960	0.0921764	0.21708	-5.774	0.44347	T	.	.	0.184	0.39915	B	.	.	3.550365	0.49907	22.9	0.99405777412432172	0.63028	0.98808	0.87122	D	AEFI	0.858382	0.77590	D	0.62930541299146	0.75034	6.235435	0.685117076158109	0.81248	7.482657	0.999999999979106	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.64	5.64	0.86480	7.799000	0.84507	8.590000	0.77683	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.678	0.95940	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1852.43	37	chr8	99507844	.	G	A	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.368;DP=517;ExcessHet=0;FS=0.534;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-1.492;SOR=0.623	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1178	9	0	1	0
chr8	99642196	99642196	C	T	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon34:c.C5681T:p.T1894M,VPS13B:NM_152564:exon34:c.C5606T:p.T1869M	Cohen syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	194079	Cohen_syndrome|not_specified|VPS13B-related_disorder|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.0180721367835	0.0012	0.000199681	0.0010	0.0003	0.0003	0.0001	0.0014	0.0012	0.0022	0.0014	0.0009832	152	154602	rs117148013	0.0010	0.0010	0.0010	0.0010	0.0018	0.0010	0.0009	0.0016	0.0015	0.0001	0.0002	0	0	0.0015	0.0007	0.0011	0.0006	0.0018	0.0008	0.0008	0.0008	0.0008	0.0017	0.0007	0.0006	0.0008	0.0008	0.0003	0.0011	0.0010	0	0	0.0011	0	0.0010	0.0009	0.0017	0.301	0.15201	T	0.092	0.40110	T	0.013	0.16609	B	0.006	0.12133	B	0.174660	0.17273	N	0.595004	1	0.08975	N	0.145	0.08828	N	-0.37	0.68892	T	-1.02	0.26843	N	0.184	0.19995	-1.0162	0.24948	T	0.098	0.36677	T	10	0.00742206	0.00169	T	0.018072	0.40007	T	0.041	0.10877	.	.	0.38225645794	0.37833	0.30762182965654516	0.30675	0.127663395425	0.14390	0.183794051409	0.00134	T	0.085251	0.37460	T	-0.550955	0.00288	T	-0.5832	0.14261	T	0.0013656374117942	0.00014	T	0.765223	0.39806	T	0.023908423	0.01173	0.040248606	0.04306	0.023908423	0.01172	0.040248606	0.04306	-4.625	0.32990	T	0.18284733410187126	0.23643	0.071	0.04119	B	.;.	.;.	1.196709	0.15883	12.17	0.88287361633611161	0.17859	0.03864	0.09226	N	AEFBI	0.039525	0.05754	N	-1.02705123661066	0.08045	0.3758626	-0.989543189689987	0.10019	0.5020192	0.0775704411734447	0.15762	0.608746	0.35421	0	0.653731	0.59785	0	0.731467	0.93227	0	0.615788	0.45269	1	.	.	5.6	-1.2	0.09062	0.356000	0.19918	0.882000	0.22403	0.599000	0.40250	0.000000	0.06391	0.372000	0.24573	0.633000	0.32236	0.1194:0.5928:0.0:0.2878	7.332	0.25764	417	0.81662	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1835.43	33	chr8	99642196	.	C	T	1835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.864;DP=454;ExcessHet=0;FS=2.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.704;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	9	0	1	0
chr8	99699894	99699894	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon36:c.A6491G:p.N2164S,VPS13B:NM_152564:exon36:c.A6416G:p.N2139S	Cohen syndrome, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	194146	Cohen_syndrome|not_specified|VPS13B-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:CN169374|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.061	0.011994965682	0.0012	0.000399361	0.0010	0.0003	0.0003	0	0.0014	0.0012	0.0023	0.0014	0.0009896	153	154602	rs142248228	0.0009	0.0009	0.0009	0.0010	0.0018	0.0009	0.0009	0.0015	0.0014	0.0001	0.0002	0	0	0.0015	0.0007	0.0010	0.0005	0.0018	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0006	0.0008	0.0007	0.0003	0.0011	0.0003	0	0	0.0011	0	0.0010	0.0009	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.993812	0.07920	N	1.002150	1	0.08975	N	-0.97	0.01230	N	-0.23	0.66652	T	-0.17	0.09627	N	0.073	0.04668	-0.9503	0.40920	T	0.093	0.35363	T	10	0.007905126	0.00179	T	0.011995	0.30154	T	0.061	0.17616	.	.	0.27855597813	0.27464	0.07494676186931658	0.07430	0.0961029939832	0.10848	0.254970133305	0.04310	T	0.044105	0.26711	T	-0.61914	0.00111	T	-0.686755	0.06578	T	0.0115930854782147	0.00176	T	0.637336	0.25103	T	0.032485086	0.03282	0.036429185	0.03089	0.032485086	0.03281	0.036429185	0.03089	-2.323	0.04711	T	0.07698980584876687	0.03566	0.055	0.00405	B	.;.	.;.	-2.439188	0.00037	0.001	0.6577628836012267	0.07868	0.01077	0.03980	N	AEFDBI	0.022743	0.01175	N	-1.61872735229058	0.01174	0.05102497	-1.61225262709172	0.01583	0.07175834	0.999999705142644	0.74766	0.693126	0.56070	0	0.633656	0.55848	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.85	-7.68	0.01129	-2.023000	0.01525	-7.939000	0.01058	-0.554000	0.04884	0.000000	0.06391	0.000000	0.08366	0.946000	0.48989	0.6375:0.0911:0.2714:0.0	11.433	0.49293	434	0.80536	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	608.43	41	chr8	99699894	.	A	G	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.274;DP=394;ExcessHet=0;FS=0.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=-0.839;SOR=0.901	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	9	0	1	0
chr8	99848882	99848882	C	T	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon55:c.C10124T:p.T3375I,VPS13B:NM_152564:exon55:c.C10049T:p.T3350I	Cohen syndrome, Autosomal recessive	0	1458	62	2	0	66	0.0221328	.	.	.	136163	not_provided|Cohen_syndrome|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0079	0.00439297	0.0081	0.0016	0.0079	0	0.0042	0.0098	0.0077	0.0112	0.0078395	1212	154602	rs138127778	0.0087	0.0088	0.0085	0.0090	0.0113	0.0086	0.0086	0.0107	0.0105	0.0016	0.0070	0.0160	0.0002	0.0035	0.0113	0.0092	0.0086	0.0113	0.0066	0.0066	0.0066	0.0067	0.0097	0.0063	0.0062	0.0090	0.0088	0.0018	0	0.0081	0.0135	0	0.0027	0.0170	0.0097	0.0128	0.0097	0.213	0.19430	T	0.173	0.30143	T	0.001	0.07471	B	0.003	0.08700	B	0.032191	0.25064	N	0.414696	1	0.08975	N	1.275	0.32135	L	-0.43	0.69657	T	-1.61	0.38734	N	0.17	0.18103	-0.9873	0.33273	T	0.131	0.44129	T	10	0.004468918	0.00092	T	.	.	.	0.099	0.28413	.	.	0.597732455086	0.59452	0.23971498585728532	0.23885	0.132304371815	0.14911	0.343923807144	0.17023	T	0.109341	0.42314	T	-0.559271	0.00256	T	-0.565742	0.15842	T	0.00382592993530367	0.00040	T	0.694731	0.30434	T	0.043221936	0.06699	0.05221075	0.08557	0.037599225	0.04849	0.05221075	0.08557	-3.666	0.18818	T	0.5104969432729618	0.58431	0.152	0.33573	B	.;.	.;.	-0.232572	0.02928	0.427	0.8476219787718301	0.15483	0.15431	0.18908	N	AEFGBI	0.070213	0.13929	N	-0.767327187011792	0.14167	0.7035442	-0.742532764754471	0.15905	0.8388741	0.0765538851683846	0.15731	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.73	3.89	0.44098	1.025000	0.29695	-0.040000	0.12681	0.596000	0.33519	0.006000	0.17386	0.001000	0.17328	0.423000	0.27295	0.0:0.6682:0.258:0.0739	10.189	0.42191	467	0.78285	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013105	0.010101	0.013587	0.023392	0.000000	0.000000	0.009202	0.007576	0.05	839.43	33	chr8	99848882	.	C	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.198;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-1.19;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1076	9	0	1	0
chr8	99965340	99965340	G	A	exonic	RGS22	.	stopgain	RGS22:NM_001286693:exon22:c.C3067T:p.R1023X,RGS22:NM_001286692:exon24:c.C3574T:p.R1192X,RGS22:NM_015668:exon24:c.C3610T:p.R1204X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.513e-05	0	0	0.0001	0	3.02e-05	0	0	1.94e-05	3	154602	rs766663457	6.854e-06	6.841e-06	6.821e-06	6.888e-06	2.991e-05	3.47e-06	2.53e-06	1.95e-06	1.28e-06	2.991e-05	2.238e-05	3.83e-05	0	0	0	5.407e-06	1.659e-05	0	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	2.407e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.010817	0.29776	N	0.215298	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.255	0.29081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573999	0.96680	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	8.500472	0.97643	37	0.99609958986467551	0.74753	0.87942	0.47660	D	AEFI	0.126348	0.24325	N	0.607370843396743	0.73641	5.999294	0.401956673850274	0.61686	4.372343	0.0545846436258002	0.14981	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.11	4.11	0.47350	1.540000	0.35721	4.901000	0.45859	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.070000	0.16646	0.0:0.0:1.0:0.0	12.223	0.53753	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	955.43	35	chr8	99965340	.	G	A	955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.839;DP=383;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.164;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	9	0	1	0
chr8	100141112	100141112	G	A	exonic	FBXO43	.	nonsynonymous SNV	FBXO43:NM_001029860:exon2:c.C1142T:p.S381L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00656568763253	.	.	8.29e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs770494083	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	1.315e-05	1.313e-05	2.57e-05	0	4.827e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	0	0	0	0.614	0.05404	T	0.618	0.07493	T	0.001	0.07471	B	0.001	0.04355	B	0.874786	0.08798	N	0.944335	1	0.08975	N	-0.44	0.02835	N	1.6	0.28604	T	-0.52	0.16187	N	0.06	0.03175	-0.9707	0.37052	T	0.016	0.06473	T	10	0.04589349	0.03714	T	0.006566	0.17301	T	0.116	0.32463	0.257	0.19845	0.213573922156	0.20996	0.04191255652011247	0.04136	0.0696468571568	0.07798	0.248401492834	0.03601	T	0.001695	0.01120	T	-0.479095	0.00748	T	-0.743816	0.03732	T	0.0202713996526375	0.00727	T	0.726327	0.34071	T	0.034460697	0.03870	0.04526039	0.06049	0.034460697	0.03870	0.04526039	0.06049	-4.235	0.27255	T	.	.	0.086	0.10497	B	.	.	0.655293	0.10239	6.974	0.41382917817887493	0.02982	0.02914	0.07718	N	AEFBI	0.053890	0.09750	N	-1.2173728182861	0.04748	0.214936	-1.09175547524237	0.07862	0.384146	0.997113422617124	0.35288	0.553676	0.25195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.31	0.404	0.15574	0.395000	0.20576	1.049000	0.23621	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.847000	0.40026	0.5699:0.142:0.2881:0.0	5.909	0.18258	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2117.43	34	chr8	100141112	.	G	A	2117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.403;DP=531;ExcessHet=0;FS=1.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.914;SOR=0.732	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1138	9	0	1	0
chr8	100529590	100529590	G	C	exonic	ANKRD46	.	nonsynonymous SNV	ANKRD46:NM_001270377:exon3:c.C244G:p.L82V,ANKRD46:NM_001270378:exon3:c.C244G:p.L82V,ANKRD46:NM_001270379:exon3:c.C244G:p.L82V,ANKRD46:NM_198401:exon4:c.C244G:p.L82V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.150005866971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0015	0.0001	0.0001	0.0002	9.864e-05	9.277e-05	0.0001	0.0001	0.0002	2.237e-05	7.67e-05	2.521e-05	0	0	0.0001	0.0001	4.648e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.979	0.59044	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.42	0.81559	T	-2.73	0.59226	D	0.725	0.78737	0.478	0.90229	D	0.674	0.88703	D	10	0.8767001	0.87427	D	0.150006	0.83175	D	0.596	0.83965	0.755	0.88484	0.890307275418	0.88922	0.8234338829086948	0.82300	1.55775025529	0.88002	0.872135579586	0.92873	D	0.101322	0.44326	T	0.308324	0.83617	D	0.205109	0.83403	D	0.974698483943939	0.70616	D	0.974603	0.93166	D	0.66677815	0.76261	0.63095033	0.78471	0.66677815	0.76262	0.63095033	0.78472	-7.09	0.54688	T	.	.	0.739	0.74650	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.979340	0.58488	24.0	0.99868500657537906	0.94637	0.91448	0.53554	D	AEFDGBCIJ	0.756888	0.69601	D	0.711921816677299	0.80415	7.288927	0.679696694225148	0.80838	7.389038	0.999999999994741	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	4.9	0.63643	6.387000	0.73118	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0697:0.0:0.9303:0.0	14.563	0.67745	254	0.90023	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.35	62	chr8	100529590	.	G	C	31.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.578;DP=656;ExcessHet=0;FS=385.368;InbreedingCoeff=-0.098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.03;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,25:96:42:.:.:42,0,1320:.	8	0	1	1
chr8	102828622	102828624	AAG	-	exonic	AZIN1	.	nonframeshift deletion	AZIN1:NM_001363010:exon12:c.1287_1289del:p.F430del,AZIN1:NM_001363013:exon12:c.789_791del:p.F264del,AZIN1:NM_148174:exon12:c.1290_1292del:p.F431del,AZIN1:NM_001363011:exon13:c.1287_1289del:p.F430del,AZIN1:NM_001363012:exon13:c.1287_1289del:p.F430del,AZIN1:NM_001363014:exon13:c.789_791del:p.F264del,AZIN1:NM_001363024:exon13:c.1290_1292del:p.F431del,AZIN1:NM_001363083:exon13:c.1290_1292del:p.F431del,AZIN1:NM_015878:exon13:c.1290_1292del:p.F431del	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	0.0001	9.879e-05	8.883e-05	0	0	0.0001	0	0.0001	9.06e-05	14	154602	rs766817320	0.0001	0.0001	8.995e-05	0.0001	0.0003	8.861e-05	8.345e-05	9.801e-05	8.946e-05	5.981e-05	0	3.835e-05	2.522e-05	0	0.0003	0.0001	8.296e-05	0.0002	6.562e-05	6.561e-05	5.137e-05	8.051e-05	0.0001	3.512e-05	2.613e-05	6.804e-05	5.087e-05	2.404e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1460.39	34	chr8	102828621	.	AAAG	A	1460.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.856;SOR=0.661	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1620	9	0	1	0
chr8	103420402	103420402	A	G	exonic	DCAF13	.	nonsynonymous SNV	DCAF13:NM_015420:exon2:c.A209G:p.N70S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0177484670439	0.0015	0.000199681	0.0014	0.0004	0.0005	0.0001	0.0008	0.0022	0.0011	0.0002	0.001423	220	154602	rs13272825	0.0017	0.0017	0.0018	0.0017	0.0021	0.0017	0.0016	0.0020	0.0020	0.0004	0.0005	0.0002	0.0002	0.0006	0.0012	0.0021	0.0017	0.0004	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0006	0	0.0003	0.0003	0	9.425e-05	0	0.0017	0.0014	0	0.503	0.07670	T	0.481	0.14075	T	0.064	0.23455	B	0.038	0.23361	B	0.000000	0.84330	D	0.090221	0.999311	0.46639	D	-1.03	0.01126	N	0.19	0.60236	T	0.04	0.06488	N	0.275	0.32370	-1.0872	0.06013	T	0.071	0.29066	T	10	0.01860571	0.00406	T	0.017748	0.39570	T	0.045	0.12272	.	.	0.529561333529	0.52604	0.4257326183448963	0.42490	0.0967568649598	0.10922	0.560001075268	0.47268	T	0.003746	0.03958	T	-0.49593	0.00603	T	-0.491621	0.23221	T	0.0212475976220162	0.00826	T	0.872513	0.71541	D	0.29449278	0.52406	0.23502992	0.48736	0.29449278	0.52406	0.23502992	0.48735	-4.587	0.36425	T	.	.	0.067	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	1.486098	0.19121	14.10	0.94931024665374897	0.25816	0.94541	0.61500	D	AEFBI	0.573374	0.57658	D	-0.399219737703088	0.25497	1.384503	-0.159701770009637	0.33036	1.885619	0.99999607333064	0.74766	0.744818	0.98587	0	0.662677	0.63036	0	0.743671	0.96076	0	0.76194	0.99817	0	.	.	5.26	4.09	0.47038	4.840000	0.62513	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9272:0.0:0.0728:0.0	11.148	0.47667	339	0.86048	WD40-repeat-containing domain;WD40-repeat-containing domain;.;.;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	1337.43	35	chr8	103420402	.	A	G	1337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=455;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.26;SOR=0.828	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr8	103998243	103998243	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348499:exon15:c.G2479A:p.D827N,RIMS2:NM_001348500:exon15:c.G2479A:p.D827N,RIMS2:NM_001348505:exon15:c.G2620A:p.D874N,RIMS2:NM_001348509:exon15:c.G2479A:p.D827N,RIMS2:NM_014677:exon15:c.G2479A:p.D827N,RIMS2:NM_001348489:exon17:c.G3055A:p.D1019N,RIMS2:NM_001348494:exon17:c.G3196A:p.D1066N,RIMS2:NM_001348486:exon18:c.G3208A:p.D1070N,RIMS2:NM_001348487:exon18:c.G3067A:p.D1023N	.	442	1047	32	1	0	34	0.0159774	.	.	.	2821222	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00636569129297	0.0034	0.00199681	0.0043	0.0011	0.0028	0	0.0047	0.0061	0.0067	0.0019	0.0040556	627	154602	rs182266368	0.0040	0.0041	0.0040	0.0041	0.0413	0.0039	0.0039	0.0370	0.0353	0.0015	0.0042	0.0158	0	0.0048	0.0413	0.0038	0.0055	0.0022	0.0035	0.0035	0.0036	0.0033	0.0045	0.0032	0.0031	0.0040	0.0039	0.0009	0	0.0040	0.0159	0	0.0037	0.0238	0.0045	0.0081	0.0010	0.468	0.10588	T	0.528	0.15554	T	0.328	0.33195	B	0.178	0.35748	B	.	.	.	.	1	0.81001	D	.	.	.	2.44	0.15843	T	0.16	0.05217	N	0.536	0.58798	-1.0343	0.19078	T	0.023	0.09604	T	9	0.005559504	0.00123	T	0.006366	0.16725	T	0.031	0.07369	.	.	0.200294437569	0.19612	.	.	.	.	.	.	.	0.059464	0.31122	T	-0.578152	0.00198	T	-0.599246	0.12875	T	0.0145750985717888	0.00299	T	0.913009	0.69301	D	.	.	.	.	.	.	.	.	-4.421	0.29840	T	.	.	0.105	0.29751	B	.;.;.;.	.;.;.;.	3.742474	0.53593	23.4	0.96533118320416411	0.30158	0.92319	0.55438	D	AEFI	0.647054	0.62237	D	-0.0542186269178862	0.39414	2.323939	0.117775738311659	0.45459	2.808616	0.772613454764295	0.23698	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	4.59	0.56297	4.990000	0.63609	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.328	0.82823	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.034240	0.020202	0.032609	0.076023	0.000000	0.043103	0.024390	0.011364	0.05	884.43	34	chr8	103998243	.	G	A	884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.205;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=0.177;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1222	9	0	1	0
chr8	104093580	104093580	G	A	exonic	RIMS2	.	nonsynonymous SNV	RIMS2:NM_001348498:exon19:c.G2954A:p.R985H,RIMS2:NM_001348501:exon19:c.G2807A:p.R936H,RIMS2:NM_001348503:exon19:c.G2954A:p.R985H,RIMS2:NM_001348509:exon21:c.G3050A:p.R1017H,RIMS2:NM_001348490:exon22:c.G3542A:p.R1181H,RIMS2:NM_001348489:exon23:c.G3629A:p.R1210H,RIMS2:NM_001348484:exon24:c.G3803A:p.R1268H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0201993938315	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0002	0.0001746	27	154602	rs371895487	8.164e-05	8.072e-05	6.475e-05	9.869e-05	0.0012	6.946e-05	6.494e-05	0.0006	0.0004	5.978e-05	0.0001	0	2.522e-05	0	0.0012	6.84e-05	0.0001	0.0002	7.229e-05	7.219e-05	0.0001	4.032e-05	0.0003	3.972e-05	3.128e-05	8.883e-05	5.39e-05	0	0	0.0003	0	0	0	0	8.828e-05	0.0005	0	0.002	0.91255	D	0.058	0.46182	T	0.999	0.77913	D	0.984	0.76113	D	.	.	.	.	0.999986	0.81001	D	.	.	.	2.03	0.20959	T	-3.01	0.66206	D	0.552	0.57775	-0.8643	0.50952	T	0.146	0.47111	T	8	0.23328885	0.40343	T	0.020199	0.42744	T	0.265	0.57870	.	.	0.0934897674506	0.08844	.	.	.	.	.	.	.	0.272553	0.66306	T	-0.223105	0.17570	T	-0.266103	0.48214	T	0.204199688621551	0.20646	T	0.978502	0.98679	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.58884	A	.;.	.;.	4.939642	0.81509	27.6	0.99929424954026513	0.99279	0.98804	0.87069	D	AEFDGI	0.909037	0.86514	D	0.685253716755579	0.78666	6.917754	0.689665251984421	0.81595	7.563299	0.976238060290304	0.29706	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.98	5.11	0.69188	7.761000	0.84104	7.617000	0.62147	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0677:0.0:0.9323:0.0	15.139	0.72273	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1252.43	116	chr8	104093580	.	G	A	1252.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=424;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.929;SOR=0.521	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	9	0	1	0
chr8	104381290	104381290	G	A	exonic	DPYS	.	nonsynonymous SNV	DPYS:NM_001385:exon9:c.C1468T:p.R490C	Dihydropyrimidinuria, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	1016982	Dihydropyrimidinase_deficiency|not_provided	MONDO:MONDO:0009111,MedGen:C0342803,OMIM:222748,Orphanet:38874|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.872	0.318447950206	7.7e-05	0.000199681	0.0001	9.61e-05	0	0.0015	0	2.997e-05	0	0	0.00011	17	154602	rs142574766	4.036e-05	4.036e-05	3.948e-05	4.125e-05	0.0008	3.179e-05	2.91e-05	0.0006	0.0005	2.987e-05	0	0	0.0008	0	0.0002	1.889e-05	4.968e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0027	8.165e-05	6.722e-05	0.0016	0.0013	2.407e-05	0	6.536e-05	0	0.0027	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.861	0.61279	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.04	0.26193	L	-4.83	0.98213	D	-7.24	0.94326	D	0.881	0.87917	1.074	0.98713	D	0.955	0.98538	D	10	0.8445761	0.83620	D	0.318448	0.91401	D	0.872	0.96170	.	.	0.991471231101	0.99138	0.8704581923374494	0.87011	0.731652867786	0.62753	0.469240039587	0.34575	T	0.830957	0.95963	D	0.175514	0.71630	D	0.460323	0.93804	D	0.308391312640462	0.25348	T	0.954705	0.82752	D	0.8502306	0.87352	0.78898317	0.87582	0.86008775	0.88094	0.7017103	0.82423	-8.476	0.64270	D	.	.	0.793	0.76943	P	.	.	4.949891	0.81757	27.6	0.99908634149852893	0.97875	0.92577	0.56039	D	AEFDI	0.797304	0.72418	D	0.745621870954521	0.82618	7.807607	0.708900515506891	0.83053	7.922288	0.925307199515103	0.26810	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	4.544000	0.60401	8.557000	0.77551	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.338000	0.25386	0.0:0.0:0.8351:0.1648	12.646	0.56099	581	0.69614	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	720.43	34	chr8	104381290	.	G	A	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.763;DP=381;ExcessHet=0;FS=3.287;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.559;SOR=1.121	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1321	9	0	1	0
chr8	109293385	109293385	T	C	exonic	NUDCD1	.	nonsynonymous SNV	NUDCD1:NM_001128211:exon4:c.A512G:p.Y171C,NUDCD1:NM_032869:exon4:c.A599G:p.Y200C	.	435	1085	1	1	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0104931334023	0.0004	0.000199681	0.0004	0.0005	0.0005	0	0.0003	0.0005	0	0.0004	0.0004981	77	154602	rs143861307	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	0.0002	0.0004	0	0	0.0002	0.0012	0.0011	0.0012	0.0004	0.0006	0.0006	0.0007	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0003	0	0.0005	0	0	9.43e-05	0	0.0011	0.0009	0.0002	0.152	0.24661	T	0.173	0.30143	T	0.614	0.48103	P	0.243	0.47596	B	0.002448	0.36537	N	0.305502	0.872063	0.35582	D	0.895	0.22405	L	2.25	0.17761	T	-2.12	0.48184	N	0.243	0.27673	-1.0505	0.14258	T	0.036	0.15596	T	10	0.06991866	0.10101	T	0.010493	0.27088	T	0.089	0.25827	.	.	0.346085882481	0.34212	0.4701788110986716	0.46936	0.137440798774	0.15499	0.400508612394	0.25139	T	0.011996	0.10618	T	-0.445566	0.01199	T	-0.437429	0.29097	T	0.0339865527767989	0.02635	T	0.875013	0.58582	D	0.10515926	0.24863	0.09678163	0.23008	0.10515926	0.24863	0.09678163	0.23008	-3.709	0.19747	T	.	.	0.061	0.01960	B	.;.	.;.	2.175300	0.27721	17.56	0.99040311473246412	0.51006	0.70138	0.34467	D	ALL	0.378925	0.46214	N	0.0376852363802117	0.43577	2.648	0.0850029565103844	0.43792	2.673823	0.999989038412076	0.51787	0.730579	0.87903	0	0.688494	0.66719	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.93	2.07	0.26004	1.245000	0.32393	-0.133000	0.11598	0.665000	0.62972	1.000000	0.71638	0.490000	0.25148	0.999000	0.91618	0.2427:0.0665:0.0:0.6908	6.438	0.21035	686	0.59327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	969.43	38	chr8	109293385	.	T	C	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.295;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	0	1	0
chr8	109408168	109408168	G	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon18:c.G1933A:p.A645T	.	.	.	.	.	.	.	.	.	.	.	4044989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.115	0.0191255300705	0.0002	0.000199681	0.0002	0.0013	0	0.0001	0	1.5e-05	0	0.0007	0.0001746	27	154602	rs202007554	5.34e-05	5.678e-05	5.586e-05	5.092e-05	0.0009	4.347e-05	4.021e-05	0.0006	0.0005	0.0009	2.237e-05	0	5.044e-05	1.875e-05	0.0002	1.8e-06	6.63e-05	0.0004	0.0002	0.0002	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	6.545e-05	0	0	0	0	0	0	0.0006	0.599	0.05652	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.914037	0.07433	N	1.048310	1	0.08975	N	0.85	0.21244	L	-1.95	0.85003	D	0.17	0.05125	N	0.034	0.00942	-0.8606	0.51220	T	0.204	0.56224	T	10	0.0120951235	0.00261	T	0.019126	0.41408	T	0.115	0.32236	.	.	0.0297737177859	0.01360	0.24039264469219024	0.23953	0.0291571377522	0.03001	0.225090131164	0.01625	T	0.006996	0.06422	T	-0.545274	0.00311	T	-0.606465	0.12273	T	0.00159410648785161	0.00016	T	0.248975	0.03721	T	0.030592117	0.02750	0.048436698	0.07194	0.030592117	0.02750	0.048436698	0.07193	-2.031	0.03300	T	.	.	0.068	0.02927	B	.	.	-0.688263	0.01347	0.075	0.71640477623179288	0.09698	0.01200	0.04279	N	AEFI	0.031246	0.03299	N	-1.646298428926	0.01051	0.04558787	-1.62122403226446	0.01531	0.06936228	7.02931935513298E-4	0.07666	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.97	-4.04	0.03741	-1.140000	0.03321	-1.673000	0.04942	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.297:0.1014:0.133:0.4686	1.528	0.02376	697	0.58201	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	916.43	74	chr8	109408168	.	G	A	916.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.875;DP=623;ExcessHet=0;FS=1.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.096;SOR=0.867	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	9	0	1	0
chr8	109575304	109575304	A	G	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001330596:exon5:c.T1204C:p.F402L,SYBU:NM_001363032:exon5:c.T1105C:p.F369L,SYBU:NM_001099746:exon6:c.T1237C:p.F413L,SYBU:NM_001099749:exon6:c.T1237C:p.F413L,SYBU:NM_001099755:exon6:c.T1237C:p.F413L,SYBU:NM_001099756:exon6:c.T1585C:p.F529L,SYBU:NM_001099753:exon7:c.T1591C:p.F531L,SYBU:NM_001099754:exon7:c.T1594C:p.F532L,SYBU:NM_001099743:exon8:c.T1591C:p.F531L,SYBU:NM_001099744:exon8:c.T1594C:p.F532L,SYBU:NM_001099745:exon8:c.T1594C:p.F532L,SYBU:NM_001099747:exon8:c.T1591C:p.F531L,SYBU:NM_001099748:exon8:c.T1594C:p.F532L,SYBU:NM_001099751:exon8:c.T1591C:p.F531L,SYBU:NM_001099752:exon8:c.T1594C:p.F532L,SYBU:NM_001099750:exon9:c.T1594C:p.F532L,SYBU:NM_017786:exon9:c.T1591C:p.F531L	.	427	1092	3	0	0	3	0.00137174	.	.	.	2431284	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.00782353984012	8.2e-05	0.000199681	5.8e-05	0.0001	0	0	0	7.498e-05	0	6.058e-05	6.47e-05	10	154602	rs374542726	5.814e-05	5.814e-05	5.717e-05	5.913e-05	0.0002	4.809e-05	4.431e-05	5.073e-05	4.653e-05	2.987e-05	8.944e-05	0	0	0	0.0002	6.295e-05	0.0001	1.159e-05	5.253e-05	5.25e-05	6.425e-05	4.028e-05	0.0002	2.556e-05	1.829e-05	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0	7.351e-05	0	0	0.571	0.07354	T	0.693	0.07394	T	0.048	0.32229	B	0.041	0.28749	B	0.972239	0.07786	N	1.010050	0.999991	0.18878	N	2.735	0.79925	M	.	.	.	-0.51	0.16187	N	0.072	0.11626	-1.0088	0.27292	T	0.093	0.35390	T	9	0.02880916	0.01010	T	0.007824	0.20747	T	0.063	0.18251	0.141	0.04462	0.0611884634855	0.05136	0.24131931137226073	0.24045	0.307647039779	0.33060	0.374204337597	0.21433	T	0.011315	0.11328	T	-0.390525	0.02669	T	-0.56207	0.16183	T	0.0476830358298754	0.05087	T	0.691931	0.30130	T	0.09287849	0.21800	0.10168998	0.24351	0.09287849	0.21800	0.10168998	0.24350	-1.828	0.02594	T	.	.	0.596	0.68706	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.230291	0.16252	12.42	0.37815354561020859	0.02514	0.40395	0.26427	N	AEFBI	0.275318	0.39030	N	-0.657595871826762	0.17239	0.8854086	-0.613663863055133	0.19142	1.025736	0.991651154979712	0.32563	0.608746	0.35421	0	0.627608	0.54475	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.97	4.78	0.60666	1.695000	0.37381	3.843000	0.40051	0.756000	0.94297	0.052000	0.21487	1.000000	0.68203	0.166000	0.20848	0.8544:0.0:0.0:0.1456	10.404	0.43428	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1685.43	36	chr8	109575304	.	A	G	1685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.182;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=1.08;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	9	0	1	0
chr8	109579922	109579922	A	G	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001330596:exon3:c.T221C:p.L74P,SYBU:NM_001363032:exon3:c.T122C:p.L41P,SYBU:NM_001099746:exon4:c.T254C:p.L85P,SYBU:NM_001099749:exon4:c.T254C:p.L85P,SYBU:NM_001099755:exon4:c.T254C:p.L85P,SYBU:NM_001099756:exon4:c.T602C:p.L201P,SYBU:NM_001099753:exon5:c.T608C:p.L203P,SYBU:NM_001099754:exon5:c.T611C:p.L204P,SYBU:NM_001099743:exon6:c.T608C:p.L203P,SYBU:NM_001099744:exon6:c.T611C:p.L204P,SYBU:NM_001099745:exon6:c.T611C:p.L204P,SYBU:NM_001099747:exon6:c.T608C:p.L203P,SYBU:NM_001099748:exon6:c.T611C:p.L204P,SYBU:NM_001099751:exon6:c.T608C:p.L203P,SYBU:NM_001099752:exon6:c.T611C:p.L204P,SYBU:NM_001099750:exon7:c.T611C:p.L204P,SYBU:NM_017786:exon7:c.T608C:p.L203P	.	436	1058	28	0	0	28	0.0130597	.	.	.	711235	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.333	.	0.0087	0.00539137	0.0089	0.0019	0.0035	0	0.0138	0.0101	0.0211	0.0137	0.0083634	1293	154602	rs112294178	0.0096	0.0096	0.0094	0.0099	0.0151	0.0095	0.0095	0.0144	0.0141	0.0013	0.0034	0.0112	2.519e-05	0.0124	0.0133	0.0099	0.0101	0.0151	0.0074	0.0074	0.0075	0.0073	0.0106	0.0070	0.0069	0.0100	0.0097	0.0018	0	0.0058	0.0130	0	0.0125	0.0136	0.0106	0.0057	0.0096	0.072	0.72154	T	0.11	0.74150	T	0.993	0.65571	D	0.878	0.62312	P	0.069102	0.21627	N	0.524842	0.999999	0.81001	D	2.215	0.62545	M	.	.	.	-1.98	0.81514	N	0.461	0.49965	-0.6813	0.61312	T	0.215	0.57613	T	9	0.008069485	0.00183	T	.	.	.	0.333	0.65522	.	.	0.345405024496	0.34151	0.5761431204883165	0.57543	0.604454540388	0.55382	0.408706814051	0.26277	T	0.028846	0.41048	T	-0.319245	0.06960	T	-0.219674	0.52768	T	0.0290367097487995	0.01842	T	0.773323	0.50261	T	0.5161976	0.68040	0.39056274	0.63848	0.5161976	0.68041	0.39056274	0.63848	-2.81	0.09294	T	.	.	0.103	0.32992	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.500765	0.48979	22.7	0.99841563174162007	0.92229	0.60516	0.31218	D	AEFDBCI	0.412647	0.48264	N	0.408125363973268	0.61868	4.393862	0.383551864109284	0.60550	4.243852	0.999250851627694	0.38906	0.615465	0.37627	0	0.653731	0.59785	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.82	4.67	0.58089	2.584000	0.45768	9.272000	0.79644	0.756000	0.94297	0.984000	0.35821	1.000000	0.68203	0.987000	0.62547	0.7164:0.0:0.1478:0.1358	5.083	0.14002	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	chr8:110592151	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.004076	0.011696	0.000000	0.008621	0.012195	0.022727	0.05	1319.43	33	chr8	109579922	.	A	G	1319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.006;DP=427;ExcessHet=0;FS=3.397;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.46;SOR=1.012	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	9	0	1	0
chr8	112336775	112336775	T	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon40:c.A6296T:p.Y2099F,CSMD3:NM_052900:exon43:c.A6584T:p.Y2195F,CSMD3:NM_198123:exon44:c.A6896T:p.Y2299F,CSMD3:NM_198124:exon45:c.A6776T:p.Y2259F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00657786591523	.	.	0.0002	0	0	0	0	0	0	0.0017	0.0001811	28	154602	rs765598138	0.0001	0.0001	7.899e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	2.525e-05	0	0.0007	0	8.282e-05	0.0022	3.943e-05	3.94e-05	1.285e-05	6.728e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	1.0	0.02489	T	1.0	0.01155	T	0.026	0.24389	B	0.063	0.30479	B	0.000068	0.52346	D	0.078785	0.997028	0.43577	D	0.415	0.12483	N	1.76	0.25996	T	-1.19	0.32590	N	0.4	0.45615	-1.1016	0.03903	T	0.045	0.19234	T	10	0.036373377	0.01932	T	0.006578	0.17358	T	0.116	0.32463	0.728	0.86198	0.376089632046	0.37223	0.3294693004118944	0.32859	0.52909541509	0.50476	0.657410681248	0.61038	T	0.04483	0.26936	T	-0.441739	0.01263	T	-0.420534	0.31014	T	0.0975454494202075	0.12084	T	0.855114	0.57669	D	0.22514439	0.45170	0.16649754	0.38461	0.22514439	0.45170	0.16649754	0.38460	-2.323	0.08444	T	.	.	0.114	0.22789	B	.;.;.;.	.;.;.;.	3.021601	0.40446	21.2	0.94562020770215782	0.25088	0.94260	0.60603	D	AEFI	0.655479	0.62780	D	-0.175695937885163	0.34149	1.945672	0.052495018698139	0.42194	2.547794	0.525092470884417	0.21129	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	5.64	0.86480	3.210000	0.50832	4.983000	0.46475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.024	0.80323	868	0.31772	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	893.43	41	chr8	112336775	.	T	A	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.558;DP=397;ExcessHet=0;FS=4.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.886;SOR=0.341	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	9	0	1	0
chr8	112829734	112829734	G	A	exonic	CSMD3	.	nonsynonymous SNV	CSMD3:NM_001363185:exon10:c.C1421T:p.T474I,CSMD3:NM_052900:exon11:c.C1499T:p.T500I,CSMD3:NM_198123:exon12:c.C1811T:p.T604I,CSMD3:NM_198124:exon13:c.C1691T:p.T564I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	0.0369475490828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.92359	D	0.000002	0.62929	D	0.000000	0.999991	0.58761	D	1.805	0.47535	L	2.24	0.17923	T	-4.13	0.75139	D	0.93	0.95956	-0.9869	0.33371	T	0.128	0.43585	T	10	0.8643214	0.85667	D	0.036948	0.57311	D	0.333	0.65522	0.608	0.74063	0.408543089712	0.40467	0.590201377417426	0.58950	0.697281818205	0.60892	0.798365235329	0.81713	T	0.144797	0.48160	T	0.0371681	0.56674	T	-0.184387	0.56115	T	0.995940685272217	0.88365	D	0.887511	0.61533	D	0.4791841	0.65850	0.39927742	0.64495	0.4791841	0.65851	0.39927742	0.64495	-9.199	0.72322	D	.	.	0.410	0.60155	A	.;.;.	.;.;.	4.959062	0.81980	27.7	0.99905313291778353	0.97576	0.98747	0.86334	D	AEFI	0.901888	0.84912	D	0.836134594411344	0.88305	9.528683	0.790171330204769	0.89101	9.839022	0.999999658566125	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	10.003000	0.99689	11.656000	0.93934	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	17.147	0.86648	705	0.57330	.;CUB domain|CUB domain|CUB domain|CUB domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1748.43	35	chr8	112829734	.	G	A	1748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.681;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.5;SOR=0.73	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr8	119758104	119758104	T	C	exonic	TAF2	.	nonsynonymous SNV	TAF2:NM_003184:exon21:c.A2737G:p.M913V	Mental retardation, autosomal recessive 40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1344243	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0152404202454	0.0002	.	6.593e-05	0	8.639e-05	0	0	7.497e-05	0.0022	0	5.17e-05	8	154602	rs373917557	6.571e-05	6.635e-05	6.81e-05	6.328e-05	0.0003	5.498e-05	5.11e-05	6.096e-05	4.113e-05	0	8.945e-05	0.0003	0	0	0.0003	5.667e-05	0.0002	9.278e-05	5.257e-05	5.254e-05	7.709e-05	2.69e-05	0.0002	2.557e-05	1.83e-05	1.972e-05	1.124e-05	0	0	0	0.0009	0	0	0	5.88e-05	0	0.0002	0.075	0.44358	T	0.022	0.57587	D	0.009	0.15093	B	0.014	0.16862	B	0.000001	0.62929	D	0.127189	0.999995	0.58761	D	1.15	0.29295	L	0.97	0.42502	T	-0.25	0.22508	N	0.873	0.87049	-1.0891	0.05684	T	0.078	0.31224	T	10	0.15104735	0.28558	T	0.01524	0.35857	T	0.107	0.30369	.	.	0.744240231762	0.74193	0.4968890820016353	0.49609	0.412230636246	0.41969	0.50600039959	0.39663	T	0.011379	0.10158	T	-0.0716272	0.41064	T	-0.13801	0.60291	T	0.0619214735925198	0.07468	T	0.921608	0.71541	D	0.25560555	0.48595	0.14264672	0.33929	0.25560555	0.48595	0.14264672	0.33928	-5.859	0.45085	T	0.09344570143363792	0.06147	0.113	0.45049	B	.;.	.;.	2.901386	0.38459	20.7	0.98398254741956759	0.41042	0.96601	0.69959	D	AEFBI	0.555588	0.56597	D	-0.0895885513634342	0.37848	2.207964	0.132511275862608	0.46223	2.871714	0.931904689464539	0.27067	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.66	5.66	0.87293	4.534000	0.60334	7.827000	0.69967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.898	0.79131	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1500.14	33	chr8	119758104	.	T	C	1500.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.632;DP=458;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.335;SOR=0.683	GT:AD:DP:GQ:PL	0/1:50,41:91:99:817,0,1109	8	0	2	0
chr8	120451294	120451294	A	T	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon4:c.A397T:p.N133Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0170271757221	.	0.00119808	0.0006	0	8.667e-05	0	0	1.504e-05	0.0011	0.0041	0.0004981	77	154602	rs566600503	0.0003	0.0003	0.0001	0.0004	0.0047	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0047	8.998e-06	0.0002	0.0039	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.506e-05	5.318e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.003	0.68238	D	0.01	0.65728	D	0.977	0.58535	D	0.803	0.58300	P	0.000025	0.55875	D	0.151389	0.976164	0.39252	D	2.595	0.75868	M	.	.	.	-3.5	0.68178	D	0.485	0.51940	-0.3633	0.73165	T	0.335	0.70174	T	9	0.008321643	0.00189	T	0.017027	0.38558	T	0.189	0.46613	0.19	0.10039	0.540879910095	0.53741	0.21687305361920275	0.21603	0.21605900711	0.24131	0.445549696684	0.31336	T	0.458825	0.79665	T	-0.287859	0.09852	T	-0.187739	0.55802	T	0.208607797549322	0.20880	T	0.79872	0.44372	T	0.41912085	0.62033	0.4373068	0.67154	0.41912085	0.62033	0.4373068	0.67154	-4.516	0.31097	T	.	.	0.140	0.30739	B	.	.	3.591748	0.50690	23.0	0.99396767965558863	0.62610	0.95971	0.66952	D	AEFGBI	0.227478	0.35128	N	0.437241705089528	0.63482	4.582911	0.380868145923304	0.60387	4.225574	0.999944125269382	0.47345	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.48	4.3	0.50540	3.450000	0.52720	4.516000	0.43668	0.743000	0.86499	0.942000	0.32722	0.217000	0.23687	0.998000	0.85391	0.8475:0.1525:0.0:0.0	11.31	0.48594	657	0.62240	MDM2-binding protein, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	809.43	38	chr8	120451294	.	A	T	809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.693;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.723;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1176	9	0	1	0
chr8	120548788	120548788	G	A	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon5:c.C1307T:p.A436V	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.0678769026873	0.0062	0.000998403	0.0051	0.0014	0.0048	0	0.0003	0.0073	0.0044	0.0035	0.005705	882	154602	rs61762674	0.0087	0.0087	0.0089	0.0085	0.0105	0.0086	0.0085	0.0104	0.0103	0.0012	0.0040	0.0003	0	0.0013	0.0036	0.0105	0.0069	0.0033	0.0050	0.0050	0.0052	0.0047	0.0089	0.0047	0.0046	0.0083	0.0081	0.0018	0	0.0029	0.0003	0	0.0009	0.0034	0.0089	0.0052	0.0017	0.151	0.24564	T	0.332	0.18449	T	0.887	0.48784	P	0.541	0.48869	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.09	0.57893	M	-1.98	0.85247	D	-3.05	0.62976	D	0.912	0.91391	-0.2678	0.75871	T	0.428	0.77055	T	10	0.052652776	0.05332	T	0.067877	0.70290	D	0.544	0.81018	.	.	0.775274093175	0.77321	0.6525711085955409	0.65193	.	.	0.479424625635	0.35977	T	0.446651	0.78922	T	0.0103242	0.53070	T	0.25373	0.85793	D	0.0413831671940031	0.03942	T	0.89781	0.64256	D	0.29604852	0.52548	0.29344627	0.55373	0.29604852	0.52548	0.29344627	0.55372	-7.658	0.58715	D	.	.	0.363	0.57405	A	.;.	.;.	4.730905	0.76202	26.5	0.99333251194066097	0.59856	0.99422	0.95828	D	AEFGBI	0.929128	0.91441	D	0.244254377398568	0.53356	3.504763	0.261916397613154	0.53330	3.50251	0.999999999992855	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.68	5.68	0.88021	10.003000	0.99689	9.897000	0.82319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:0.0:1.0:0.0	19.800	0.96501	687	0.59234	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	2065.43	35	chr8	120548788	.	G	A	2065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.82;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.41;SOR=0.722	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	9	0	1	0
chr8	123082758	123082758	G	A	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001145088:exon3:c.G281A:p.R94H,TBC1D31:NM_001363148:exon3:c.G281A:p.R94H,TBC1D31:NM_001363149:exon3:c.G251A:p.R84H,TBC1D31:NM_001363150:exon3:c.G281A:p.R94H,TBC1D31:NM_001363151:exon3:c.G281A:p.R94H,TBC1D31:NM_001363153:exon3:c.G281A:p.R94H,TBC1D31:NM_145647:exon3:c.G281A:p.R94H	.	437	1077	7	1	0	9	0.00416089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.015577422867	0.0015	0.00239617	0.0024	0.0008	0.0013	0	0.0062	0.0031	0	0.0014	0.0023868	369	154602	rs117552523	0.0027	0.0027	0.0027	0.0028	0.0064	0.0026	0.0026	0.0048	0.0042	0.0005	0.0019	0.0001	0	0.0066	0.0064	0.0029	0.0024	0.0011	0.0025	0.0025	0.0022	0.0028	0.0033	0.0023	0.0022	0.0030	0.0028	0.0008	0	0.0025	0.0009	0	0.0062	0.0068	0.0033	0.0038	0.0008	0.194	0.24277	T	0.304	0.22561	T	0.015	0.17086	B	0.004	0.10090	B	0.022274	0.26667	N	0.446219	0.898412	0.36113	D	1.355	0.33814	L	-0.28	0.70480	T	-1.8	0.47344	N	0.205	0.26717	-0.9579	0.39571	T	0.145	0.46895	T	10	0.008959055	0.00203	T	0.015577	0.36391	T	0.082	0.23913	.	.	0.312608672186	0.30878	0.2283801300167431	0.22753	0.0879987765366	0.09938	0.233587712049	0.02244	T	0.006688	0.22922	T	-0.400581	0.02295	T	-0.351862	0.38993	T	0.00803027947544966	0.00095	T	0.876412	0.58869	D	0.049620923	0.08839	0.04609817	0.06349	0.049620923	0.08839	0.04609817	0.06348	-5.036	0.40121	T	.	.	0.072	0.11941	B	.;.;.	.;.;.	1.500614	0.19289	14.19	0.93647671757815787	0.23529	0.25624	0.22754	N	AEFGBI	0.099915	0.20102	N	-0.884225885550762	0.11217	0.5401324	-0.845670000829821	0.13391	0.6944632	0.417341655625476	0.20262	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.669	0.65921	0	.	.	5.7	-2.69	0.05668	0.961000	0.28864	0.182000	0.15643	-0.162000	0.11565	0.444000	0.26519	0.001000	0.17328	0.997000	0.79791	0.5206:0.0:0.4794:0.0	13.156	0.58940	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.004076	0.005848	0.000000	0.008621	0.018293	0.000000	0.1	1735.14	34	chr8	123082758	.	G	A	1735.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.69;DP=413;ExcessHet=0.2348;FS=1.36;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.195;SOR=0.869	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1022	8	0	2	0
chr8	123097290	123097290	G	A	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001330606:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363152:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363154:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363155:exon5:c.G365A:p.R122Q,TBC1D31:NM_001145088:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363148:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363149:exon6:c.G650A:p.R217Q,TBC1D31:NM_001363150:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363151:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363153:exon6:c.G680A:p.R227Q,TBC1D31:NM_145647:exon6:c.G680A:p.R227Q	.	434	1086	2	0	0	2	0.000919963	.	.	.	2333648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.025766431007	0.0002	0.000199681	0.0001	0	8.639e-05	0	0	0.0002	0	6.058e-05	0.0001617	25	154602	rs143777547	0.0003	0.0003	0.0003	0.0003	0.0109	0.0003	0.0002	0.0088	0.0080	0.0003	4.474e-05	0	2.519e-05	1.872e-05	0.0109	0.0003	0.0004	9.277e-05	0.0001	0.0001	6.427e-05	0.0002	0.0002	7.575e-05	6.28e-05	0.0001	9.898e-05	4.816e-05	0	6.542e-05	0	0	0	0.0034	0.0002	0	0	0.049	0.40832	D	0.085	0.60972	T	0.15	0.27995	B	0.023	0.19966	B	0.000195	0.48115	D	0.134555	0.672534	0.30923	N	1.65	0.42232	L	-0.22	0.70717	T	-1.55	0.47008	N	0.242	0.30233	-0.6383	0.63218	T	0.222	0.58510	T	10	0.09917486	0.17980	T	0.025766	0.48722	D	0.052	0.14661	.	.	0.66689630219	0.66409	0.2933300572960414	0.29246	0.0822840834372	0.09278	0.347335666418	0.17529	T	0.008408	0.20609	T	-0.267882	0.11993	T	-0.325011	0.42024	T	0.0652582868933678	0.07970	T	0.937306	0.77406	D	0.14157243	0.32615	0.09822833	0.23411	0.14157243	0.32615	0.09822833	0.23410	-9.005	0.69481	D	.	.	0.077	0.14385	B	.;.;.;.;.	.;.;.;.;.	3.736824	0.53487	23.4	0.99777427655962714	0.86433	0.86073	0.45287	D	AEFGBI	0.124766	0.24097	N	-0.0570546018428104	0.39287	2.314409	0.113427382016881	0.45235	2.790256	0.999949088223639	0.47345	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.94	5.07	0.68106	3.345000	0.51899	9.798000	0.81680	0.618000	0.50648	0.991000	0.37257	1.000000	0.68203	0.984000	0.60418	0.1319:0.0:0.8681:0.0	13.248	0.59460	924	0.18029	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.020202	0.006793	0.032164	0.000000	0.008621	0.003049	0.003788	0.1	896.14	35	chr8	123097290	.	G	A	896.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.185;DP=357;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.232;SOR=0.625	GT:AD:DP:GQ:PL	0/1:23,23:46:99:512,0,485	8	0	2	0
chr8	123812551	123812551	G	T	exonic	FAM91A1	.	nonsynonymous SNV	FAM91A1:NM_001317917:exon24:c.G1638T:p.E546D,FAM91A1:NM_144963:exon24:c.G2364T:p.E788D	.	437	1077	7	1	0	9	0.00416089	.	.	.	2828487	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	.	.	0.00199681	0.0008	0	0	0	0	3.049e-05	0.0023	0.0064	0.0006662	103	154602	rs559570553	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0054	0.0052	3.123e-05	0	0	2.554e-05	0	0.0011	1.176e-05	0.0004	0.0058	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0001	0.0040	0.0034	0	0	0.0001	0	0	0	0.0034	4.41e-05	0	0.0056	0.813	0.03013	T	0.673	0.06245	T	0.0	0.02946	B	0.004	0.10090	B	0.000000	0.84330	D	0.085531	0.936837	0.37169	D	0	0.06538	N	1.47	0.31987	T	-0.02	0.07299	N	0.057	0.02861	-1.0542	0.13251	T	0.028	0.11971	T	10	0.00415954	0.00082	T	.	.	.	0.109	0.30843	0.21	0.12781	0.043077524339	0.03247	0.2892239892632202	0.28835	0.405078446708	0.41395	0.377963334322	0.21966	T	0.051914	0.29014	T	-0.564537	0.00238	T	-0.581499	0.14411	T	0.0440003081627695	0.04421	T	0.689031	0.29821	T	0.093532726	0.21971	0.08083919	0.18322	0.093532726	0.21970	0.08083919	0.18321	-2.506	0.05822	T	.	.	0.060	0.00979	B	.	.	0.658592	0.10271	7.005	0.95230278743824681	0.26460	0.89888	0.50651	D	AEFBI	0.156875	0.28230	N	-0.64946134204889	0.17476	0.8996107	-0.450031101368281	0.23548	1.284729	0.537883968128475	0.21229	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.89	4.1	0.47196	0.437000	0.21261	3.055000	0.36136	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.1385:0.0:0.7261:0.1354	8.225	0.30722	940	0.13648	FAM91, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000611	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004202	0.05	299.43	34	chr8	123812551	.	G	T	299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.325;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=1.12;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1043	9	0	1	0
chr8	124010665	124010665	C	T	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon14:c.C1772T:p.T591I	.	428	1033	60	1	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0071	0.0131789	0.0097	0.0134	0.0047	0	0.0036	0.0064	0.0078	0.0322	0.0087838	1358	154602	rs151336286	0.0064	0.0064	0.0055	0.0072	0.0290	0.0063	0.0062	0.0281	0.0277	0.0130	0.0047	0.0022	0	0.0041	0.0162	0.0048	0.0075	0.0290	0.0080	0.0080	0.0083	0.0078	0.0264	0.0077	0.0075	0.0227	0.0212	0.0118	0	0.0105	0.0012	0	0.0031	0.0034	0.0057	0.0076	0.0264	0.099	0.30656	T	0.235	0.24767	T	0.0	0.02946	B	0.002	0.06944	B	0.107533	0.19567	N	0.460944	0.850161	0.35209	D	0.995	0.25082	L	-1.51	0.81399	D	-2.99	0.62151	D	0.22	0.24634	-0.7965	0.55350	T	0.231	0.59645	T	10	0.0048378706	0.00103	T	.	.	.	0.205	0.49236	.	.	0.154104182512	0.14974	0.5477211513146669	0.54698	0.118479470376	0.13338	0.444607198238	0.31207	T	0.138948	0.47272	T	-0.459616	0.00988	T	-0.410671	0.32148	T	0.0392810590565205	0.03561	T	0.578142	0.20837	T	0.07896309	0.18014	0.13668564	0.32693	0.07896309	0.18013	0.13668564	0.32692	-7.946	0.60701	D	.	.	0.118	0.24123	B	.	.	1.098005	0.14821	11.36	0.99163655309847987	0.54184	0.09839	0.15503	N	AEFGBHCI	0.051628	0.09138	N	-0.756144786044258	0.14467	0.7208705	-0.739194585284678	0.15987	0.8436258	0.99998999448841	0.51787	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	5.33	-1.02	0.09618	0.083000	0.14718	0.166000	0.15462	0.599000	0.40250	0.028000	0.20300	0.006000	0.19429	0.997000	0.79791	0.0:0.5131:0.0:0.4869	9.710	0.39404	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.000000	0.012228	0.026316	0.000000	0.008621	0.015244	0.037879	0.05	794.43	34	chr8	124010665	.	C	T	794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.637;DP=372;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.169;SOR=0.551	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1261	9	0	1	0
chr8	124045840	124045840	T	G	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon21:c.T2663G:p.V888G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0105048186152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.13436	T	0.35	0.17478	T	0.0	0.02946	B	0.001	0.04355	B	0.200978	0.16601	U	0.566893	0.70176	0.33429	D	-0.595	0.02246	N	-0.42	0.69536	T	-0.96	0.25551	N	0.164	0.17278	-1.0232	0.22671	T	0.098	0.36754	T	10	0.07346639	0.11102	T	0.010505	0.27109	T	0.141	0.37795	0.525	0.62967	0.0551355673512	0.04727	0.26712817167235964	0.26625	0.140838786174	0.15890	0.26891887188	0.06001	T	0.025764	0.19202	T	-0.181252	0.23550	T	-0.498132	0.22542	T	0.422025561332703	0.29765	T	0.374563	0.08910	T	0.06819888	0.14838	0.05282756	0.08778	0.06819888	0.14838	0.05282756	0.08778	-6.816	0.52678	T	.	.	0.068	0.02894	B	.	.	0.996850	0.13748	10.30	0.65750476509912548	0.07861	0.12228	0.17139	N	AEFDGBHI	0.108517	0.21586	N	-1.10076587299035	0.06630	0.3057581	-0.992041911284775	0.09963	0.4988435	0.997888842619616	0.36150	0.549168	0.22868	0	0.610034	0.51514	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.62	3.2	0.35826	0.889000	0.27917	2.875000	0.35292	-0.115000	0.14600	0.000000	0.06391	0.998000	0.33993	0.046000	0.14843	0.497:0.1391:0.0758:0.2882	2.002	0.03258	698	0.58074	C2 domain|C2 domain|C2 domain|Ferlin, fourth C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	746.43	35	chr8	124045840	.	T	G	746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.932;DP=394;ExcessHet=0;FS=5.366;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.862;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	9	0	1	0
chr8	124451696	124451696	G	C	exonic	TRMT12	.	nonsynonymous SNV	TRMT12:NM_017956:exon1:c.G769C:p.G257R	.	413	1073	35	1	0	37	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0009	0.00399361	0.0045	0.0002	0.0009	0	0	0.0009	0.0066	0.0285	0.0038809	600	154602	rs148858836	0.0020	0.0020	0.0012	0.0028	0.0253	0.0019	0.0019	0.0244	0.0241	0.0003	0.0010	0.0015	0	1.872e-05	0.0092	0.0004	0.0024	0.0253	0.0014	0.0014	0.0009	0.0019	0.0237	0.0012	0.0012	0.0201	0.0188	9.624e-05	0	0.0014	0.0012	0	0	0.0068	0.0008	0.0047	0.0237	0.387	0.10945	T	0.787	0.04234	T	0.277	0.31978	B	0.292	0.40739	B	0.099600	0.19926	N	0.571867	0.99991	0.19694	N	1.065	0.27018	L	1.13	0.38556	T	0.73	0.02068	N	0.183	0.19861	-1.0247	0.22181	T	0.105	0.38366	T	10	0.0047546923	0.00100	T	.	.	.	0.097	0.27909	.	.	0.082315109003	0.07666	0.6696233123562838	0.66900	0.328560466209	0.34964	0.59677696228	0.52450	T	0.002738	0.02136	T	-0.452658	0.01090	T	-0.402716	0.33068	T	0.0453637498981926	0.04668	T	0.946005	0.79398	D	0.18428667	0.39737	0.17261861	0.39530	0.18428667	0.39737	0.17261861	0.39530	-4.047	0.24504	T	.	.	0.087	0.10979	B	.	.	3.296526	0.45235	22.1	0.97430559167786401	0.33926	0.58537	0.30668	D	AEFGBCI	0.274209	0.38945	N	0.0604140368447166	0.44623	2.732964	0.196258597748989	0.49640	3.164913	0.999998147199328	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.66	4.77	0.60425	3.574000	0.53608	4.972000	0.46406	0.676000	0.76740	0.907000	0.31601	1.000000	0.68203	0.954000	0.50415	0.0813:0.0:0.9187:0.0	13.294	0.59724	626	0.65439	SAM-dependent methyltransferase TRM5/TYW2-type|SAM-dependent methyltransferase TRM5/TYW2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.004076	0.011696	0.000000	0.008621	0.003049	0.030303	0.05	2470.43	33	chr8	124451696	.	G	C	2470.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.275;DP=579;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.209;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr8	124565686	124565686	A	G	exonic	MTSS1	.	nonsynonymous SNV	MTSS1:NM_001282974:exon9:c.T800C:p.M267T,MTSS1:NM_001363294:exon9:c.T800C:p.M267T,MTSS1:NM_001363295:exon9:c.T800C:p.M267T,MTSS1:NM_001363298:exon9:c.T800C:p.M267T,MTSS1:NM_001363300:exon9:c.T800C:p.M267T,MTSS1:NM_001363301:exon9:c.T800C:p.M267T,MTSS1:NM_001363302:exon9:c.T800C:p.M267T,MTSS1:NM_014751:exon9:c.T800C:p.M267T,MTSS1:NM_001282971:exon10:c.T812C:p.M271T,MTSS1:NM_001363296:exon10:c.T812C:p.M271T,MTSS1:NM_001363297:exon10:c.T812C:p.M271T,MTSS1:NM_001363299:exon10:c.T812C:p.M271T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0109698175887	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs913749061	9.577e-06	9.577e-06	9.529e-06	9.626e-06	1.169e-05	5.56e-06	4.35e-06	6.52e-06	5.03e-06	0	0	0	0	0	0	1.169e-05	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.457	0.10588	T	0.787	0.17696	T	0.458	0.57829	P	0.137	0.52216	B	0.000000	0.84330	D	0.049187	1	0.81001	D	1.975	0.53506	M	1.55	0.42888	T	-1.47	0.41809	N	0.478	0.52029	-0.9999	0.29945	T	0.132	0.44307	T	10	0.19711292	0.35630	T	0.01097	0.28104	T	0.151	0.39764	0.18	0.08751	0.409859612472	0.40601	0.49194119063207203	0.49115	1.00756453028	0.74644	0.779864788055	0.78907	T	0.356903	0.72369	T	0.0767426	0.61657	D	-0.127541	0.61179	T	0.628982603549957	0.37576	D	0.849315	0.64861	T	0.342657	0.56490	0.23602745	0.48863	0.342657	0.56490	0.23602745	0.48862	-7.158	0.64030	T	.	.	0.241	0.55896	B	.;.;.;.;.;.	.;.;.;.;.;.	4.644170	0.73970	26.1	0.98242524392341968	0.39494	0.97493	0.75105	D	AEFDGBI	0.769966	0.70505	D	0.19089959364987	0.50763	3.263206	0.295209892778343	0.55258	3.689123	0.999999980137467	0.74766	0.730579	0.87903	0	0.547309	0.14657	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.2	5.2	0.71720	4.840000	0.62513	11.059000	0.85411	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.376	0.74324	904	0.23766	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1052.43	33	chr8	124565686	.	A	G	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.748;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.52;SOR=0.664	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	9	0	1	0
chr8	125009277	125009277	A	G	exonic	SQLE	.	nonsynonymous SNV	SQLE:NM_003129:exon6:c.A1042G:p.I348V	.	440	1061	18	3	0	24	0.0111836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0016	0.00259585	0.0034	0.0001	0.0010	0	0	0.0023	0.0056	0.0144	0.0030853	477	154602	rs199608260	0.0030	0.0030	0.0026	0.0034	0.0139	0.0029	0.0029	0.0133	0.0130	0.0003	0.0009	0.0061	5.04e-05	0.0001	0.0029	0.0025	0.0027	0.0139	0.0017	0.0017	0.0016	0.0019	0.0118	0.0016	0.0015	0.0094	0.0085	0.0002	0	0.0008	0.0055	0	0.0003	0	0.0023	0.0014	0.0118	0.505	0.09687	T	0.827	0.05398	T	0.018	0.17786	B	0.035	0.22741	B	0.002665	0.36137	N	0.347488	0.748238	0.33899	D	0.705	0.18577	N	.	.	.	0.02	0.06739	N	0.102	0.08646	-1.0232	0.22671	T	0.080	0.31556	T	9	0.007342428	0.00167	T	.	.	.	0.113	0.31778	.	.	0.102598925029	0.09809	0.40313914311060073	0.40229	0.21350864514	0.23864	0.233839139342	0.02264	T	0.006144	0.69673	T	-0.560457	0.00252	T	-0.566157	0.15804	T	0.00998537056148052	0.00133	T	0.593441	0.21993	T	0.023919482	0.01174	0.037572183	0.03437	0.023919482	0.01174	0.037572183	0.03437	-4.99	0.36731	T	.	.	0.069	0.03197	B	.;.	.;.	0.261024	0.06395	2.862	0.68150669314228796	0.08570	0.62796	0.31890	D	AEFDGBIJ	0.208641	0.33470	N	-1.28288398061806	0.03881	0.174194	-1.23662953224712	0.05332	0.2538001	0.999998411878671	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	-4.43	0.03319	1.577000	0.36124	-0.227000	0.10711	-0.742000	0.03659	0.735000	0.28974	0.000000	0.08366	0.914000	0.44937	0.5864:0.0:0.4136:0.0	14.105	0.64608	923	0.18507	Squalene epoxidase;Squalene epoxidase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	426.43	45	chr8	125009277	.	A	G	426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.523;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.605;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	517.53	161	chr8	132010871	.	G	C	517.53	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.686;DP=1526;ExcessHet=0.7463;FS=211.335;InbreedingCoeff=-0.1791;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.715;SOR=11.704	GT:AD:DP:GQ:PL	0/1:81,52:143:99:244,0,1109	7	0	3	0
chr8	132804005	132804005	G	A	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616A:p.D206N,PHF20L1:NM_001362971:exon6:c.G616A:p.D206N,PHF20L1:NM_198513:exon6:c.G616A:p.D206N,PHF20L1:NM_016018:exon7:c.G694A:p.D232N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0115266637685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.453	0.35455	T	0.372	0.34134	B	0.312	0.41466	B	0.142512	0.18241	N	0.607210	0.952252	0.81001	D	0	0.06538	N	0.85	0.47477	T	-1.07	0.31375	N	0.176	0.25377	-0.9728	0.36605	T	0.101	0.37443	T	10	0.12235302	0.23210	T	0.011527	0.29247	T	0.063	0.18251	0.171	0.07655	0.258436476835	0.25460	0.24866410637430061	0.24780	0.547561883492	0.51719	0.349470287561	0.17844	T	0.058701	0.30914	T	-0.218933	0.18139	T	-0.552259	0.17110	T	0.765105339381629	0.44148	D	0.892711	0.64723	D	0.14623536	0.33486	0.1307911	0.31420	0.14623536	0.33485	0.1307911	0.31419	-4.126	0.34812	T	.	.	0.091	0.19958	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.256382	0.64649	24.7	0.99797584564061348	0.88283	0.98592	0.84463	D	AEFDBI	0.820892	0.74158	D	0.0167741354743622	0.42618	2.571282	0.245113666878269	0.52371	3.412443	0.999743363373417	0.42466	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	65.3	41	chr8	132804005	.	G	A	65.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.673;DP=504;ExcessHet=0.2348;FS=195.153;InbreedingCoeff=-0.1933;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.016;SOR=8.121	GT:AD:DP:GQ:PL	0/1:25,12:38:73:73,0,306	5	0	2	3
chr8	133133498	133133498	C	T	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon47:c.C8026T:p.R2676W	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	700410	not_specified|not_provided|Iodotyrosyl_coupling_defect	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0158653751844	0.0006	0.000798722	0.0008	9.61e-05	0.0013	0.0001	0.0002	0.0005	0.0022	0.0028	0.0007956	123	154602	rs114613744	0.0006	0.0006	0.0005	0.0007	0.0031	0.0005	0.0005	0.0028	0.0027	0.0001	0.0012	3.826e-05	7.557e-05	7.488e-05	0.0012	0.0004	0.0005	0.0031	0.0004	0.0004	0.0005	0.0004	0.0019	0.0003	0.0003	0.0010	0.0007	9.621e-05	0	0.0010	0	0.0004	0	0	0.0005	0	0.0019	0.055	0.44358	T	0.0	0.92824	D	0.691	0.41647	P	0.175	0.35598	B	0.116270	0.19200	N	0.477631	1	0.08975	N	1.645	0.42016	L	-0.29	0.67712	T	-3.13	0.84246	D	0.39	0.43126	-0.9579	0.39571	T	0.101	0.37493	T	10	0.009665489	0.00218	T	0.015865	0.36838	T	0.168	0.42943	.	.	0.740405641788	0.73808	0.6709331718413303	0.67031	0.0903394030496	0.10192	0.39365708828	0.24183	T	0.427259	0.77679	T	-0.379021	0.03160	T	-0.32214	0.42341	T	0.043749031649968	0.04375	T	0.831217	0.50550	T	0.18792328	0.40268	0.12352939	0.29786	0.21125221	0.43445	0.110208	0.26569	-5.883	0.45290	T	0.570815889595398	0.63800	0.124	0.45011	B	.;.;.	.;.;.	1.876688	0.23837	16.17	0.98884173440654877	0.47877	0.02195	0.06412	N	AEFBI	0.165789	0.29231	N	-0.639711067161978	0.17761	0.9166406	-0.802929436460108	0.14425	0.7536125	0.994950256203476	0.33880	0.553676	0.25195	0	0.563428	0.19063	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	4.84	-2.71	0.05633	0.500000	0.22270	-0.087000	0.12105	0.599000	0.40250	0.096000	0.22710	0.000000	0.08366	0.822000	0.38733	0.3495:0.5476:0.0:0.1029	9.469	0.37993	642	0.63909	Carboxylesterase, type B;Carboxylesterase, type B;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1375.43	35	chr8	133133498	.	C	T	1375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-1.955;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1404	9	0	1	0
chr8	133256769	133256769	C	A	exonic	NDRG1	.	nonsynonymous SNV	NDRG1:NM_001374844:exon8:c.G545T:p.W182L	Charcot-Marie-Tooth disease, type 4D, Autosomal recessive	0	225	1	0	0	1	0.00221729	0.0001	0	.	1075015	Charcot-Marie-Tooth_disease_type_4	MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	7.647e-05	0	0	0	0	1.536e-05	0	0.0005	6.47e-05	10	154602	rs537844639	3.079e-05	3.215e-05	1.497e-05	4.676e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0	0	4.968e-05	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	545.43	35	chr8	133256769	.	C	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.248;DP=381;ExcessHet=0;FS=3.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.728;SOR=1.204	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr8	133459792	133459792	T	C	exonic	ST3GAL1	.	nonsynonymous SNV	ST3GAL1:NM_003033:exon9:c.A995G:p.N332S,ST3GAL1:NM_173344:exon10:c.A995G:p.N332S	.	428	1077	17	0	0	17	0.00783049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0069774542232	0.0010	0.00119808	0.0009	0.0004	0.0004	0	0	0.0013	0.0022	0.0005	0.0009638	149	154602	rs149294559	0.0014	0.0014	0.0014	0.0014	0.0115	0.0013	0.0013	0.0092	0.0084	0.0009	0.0007	0.0003	0	7.49e-05	0.0115	0.0016	0.0021	0.0005	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0009	0.0015	0.0015	0.0005	0	0.0011	0.0003	0.0002	0	0.0102	0.0018	0.0019	0.0002	0.531	0.07002	T	0.254	0.23433	T	0.005	0.12996	B	0.003	0.08700	B	0.093120	0.20240	N	0.587194	0.839176	0.35039	D	1.435	0.35949	L	1.58	0.29085	T	-0.78	0.21644	N	0.092	0.07535	-1.0336	0.19300	T	0.069	0.28080	T	10	0.011877924	0.00258	T	0.006977	0.18485	T	0.082	0.23913	.	.	0.134007934775	0.12933	0.34420148422556923	0.34334	.	.	0.286849409342	0.08466	T	0.111602	0.42722	T	-0.60579	0.00134	T	-0.647879	0.09103	T	0.0122269385190247	0.00197	T	0.786621	0.42528	T	0.053305667	0.10068	0.05659481	0.10141	0.053305667	0.10068	0.05659481	0.10140	-4.103	0.25335	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	1.809156	0.22993	15.84	0.9340004977887143	0.23157	0.90599	0.51909	D	AEGBI	0.250309	0.37038	N	-0.159375426261962	0.34838	1.993595	0.00984891361497564	0.40171	2.393185	0.99999989194453	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	0.885000	0.27865	0.457000	0.18579	0.665000	0.62972	0.531000	0.27197	0.212000	0.23650	0.998000	0.85391	0.0:0.0:0.0:1.0	14.401	0.66616	928	0.17405	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.014946	0.008772	0.000000	0.000000	0.006098	0.000000	0.05	2555.43	33	chr8	133459792	.	T	C	2555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.152;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.28;SOR=0.701	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,99,1485	9	0	1	0
chr8	134602724	134602724	G	A	exonic	ZFAT	.	nonsynonymous SNV	ZFAT:NM_001174157:exon5:c.C809T:p.S270L,ZFAT:NM_001167583:exon6:c.C959T:p.S320L,ZFAT:NM_001174158:exon6:c.C959T:p.S320L,ZFAT:NM_020863:exon6:c.C995T:p.S332L,ZFAT:NM_001029939:exon7:c.C959T:p.S320L,ZFAT:NM_001289394:exon7:c.C959T:p.S320L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.00360917246389	.	.	2.487e-05	0	0	0	0	4.499e-05	0	0	1.94e-05	3	154602	rs766044168	9.578e-06	9.577e-06	1.089e-05	8.252e-06	7.559e-05	5.56e-06	4.35e-06	2.004e-05	1.055e-05	0	4.474e-05	0	7.559e-05	0	0	8.094e-06	0	0	2.626e-05	2.625e-05	2.569e-05	2.685e-05	0.0002	8.14e-06	5.14e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.039	0.42487	D	0.204	0.35840	T	0.993	0.65571	D	0.636	0.51948	P	0.937521	0.07573	N	1.028360	1	0.08975	N	1.115	0.28702	L	2.37	0.15964	T	-2.91	0.63207	D	0.359	0.41557	-1.0498	0.14453	T	0.060	0.25090	T	10	0.4001403	0.55509	T	0.003609	0.08278	T	0.185	0.45933	0.771	0.89767	0.291694819147	0.28783	0.21787277563710108	0.21703	0.303909260197	0.32711	0.414243131876	0.27044	T	0.085077	0.82359	T	-0.303771	0.08308	T	-0.498275	0.22526	T	0.220101476533249	0.21469	T	0.976602	0.94400	D	0.09998197	0.23602	0.1307759	0.31416	0.09998197	0.23601	0.1307759	0.31415	-12.194	0.85783	D	.	.	0.101	0.21277	B	.;.;.;.;.;.	.;.;.;.;.;.	3.864325	0.56067	23.7	0.9864076231804636	0.44042	0.78437	0.38697	D	AEFDGBCI	0.584584	0.58335	D	0.230368630086825	0.52675	3.44025	0.232962425947256	0.51685	3.34897	0.999999938420943	0.74766	0.638212	0.43195	0	0.623108	0.53289	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	6.04	4.02	0.45968	6.630000	0.74133	9.642000	0.81151	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.453000	0.27962	0.0781:0.1344:0.7876:0.0	11.133	0.47581	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1408.43	42	chr8	134602724	.	G	A	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=576;ExcessHet=0;FS=9.025;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.837;SOR=0.878	GT:AD:DP:GQ:PL	0/1:83,59:142:99:1420,0,1957	9	0	1	0
chr8	138178624	138178624	T	C	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon10:c.A940G:p.M314V,FAM135B:NM_015912:exon10:c.A940G:p.M314V	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0400305422329	8e-05	0.000599042	0.0003	0	8.648e-05	0	0	0.0002	0.0033	0.0015	0.0002781	43	154602	rs199559305	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0018	0.0017	0	0.0002	0.0020	0	0	0.0014	5.935e-05	0.0004	0.0020	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.406e-05	0	0.0002	0.0017	0	0	0	0.0002	0	0.0012	0.053	0.38863	T	0.004	0.74150	D	0.005	0.12996	B	0.016	0.17743	B	0.000166	0.48594	D	0.085246	0.998089	0.22359	N	0	0.06538	N	-1.18	0.78314	T	-0.94	0.25118	N	0.186	0.20262	-0.9333	0.43650	T	0.188	0.53827	T	10	0.012443334	0.00267	T	0.040031	0.59144	D	0.215	0.50805	.	.	0.182106788282	0.17826	0.17379782243038763	0.17299	0.0666082781668	0.07428	0.318082988262	0.13130	T	0.060432	0.31385	T	-0.389973	0.02691	T	-0.33973	0.40375	T	0.016590693078851	0.00420	T	0.570043	0.20293	T	0.13456854	0.31261	0.15495744	0.36344	0.13456854	0.31261	0.15495744	0.36344	-3.75	0.20059	T	.	.	0.092	0.13456	B	.	.	1.567077	0.20069	14.57	0.7770473047460561	0.11988	0.61263	0.31434	D	AEFDGHCI	0.404940	0.47802	N	-0.725971132987812	0.15293	0.7695141	-0.57881170255259	0.20047	1.078285	0.161928877157649	0.17606	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	5.26	2.45	0.28953	3.426000	0.52545	2.591000	0.33468	-0.203000	0.08628	1.000000	0.71638	1.000000	0.68203	0.216000	0.22352	0.1642:0.0:0.6819:0.154	6.338	0.20513	961	0.08552	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1281.43	34	chr8	138178624	.	T	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.076;DP=450;ExcessHet=0;FS=0.651;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.416;SOR=0.758	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1328	9	0	1	0
chr8	141150951	141150951	C	T	exonic	DENND3	.	stopgain	DENND3:NM_001352890:exon6:c.C853T:p.Q285X,DENND3:NM_001362798:exon6:c.C853T:p.Q285X,DENND3:NM_014957:exon6:c.C652T:p.Q218X	.	.	.	.	.	.	.	.	0.9981	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.052656	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.526	0.56058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	0.999495148658752	0.97632	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	10.226168	0.99644	46	0.99840391849317234	0.92057	0.98538	0.83854	D	AEFBI	0.677420	0.64213	D	1.00298844853554	0.95835	14.01585	0.822893962654012	0.91339	10.83635	0.999999997818864	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.616094	0.41390	0	0.735409	0.98432	0	.	.	5.4	5.4	0.77957	4.895000	0.62904	3.783000	0.39798	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.186000	0.21481	0.0:0.8583:0.1417:0.0	15.059	0.71605	965	0.07246	cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1613.43	36	chr8	141150951	.	C	T	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.823;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.61;SOR=0.693	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	9	0	1	0
chr8	141494884	141494884	C	T	exonic	MROH5	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0	0	0.0003	0	0	0	0	1.29e-05	2	154602	rs537492586	3.148e-05	3.147e-05	2.996e-05	3.302e-05	0.0011	2.413e-05	2.159e-05	0.0008	0.0007	0	0	0	0.0011	0	0	2.699e-06	1.657e-05	0	2.626e-05	2.625e-05	2.569e-05	2.686e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	34	chr8	141494884	.	C	T	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.483;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=0.789;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	9	0	1	0
chr8	143269479	143269479	A	G	exonic	GLI4	.	nonsynonymous SNV	GLI4:NM_138465:exon2:c.A83G:p.Q28R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00384616386772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.22138	T	0.127	0.35082	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999971	0.18612	N	.	.	.	3.34	0.06063	T	-1.57	0.66206	N	0.04	0.02861	-0.9040	0.47561	T	0.010	0.03719	T	9	0.055799007	0.06155	T	0.003846	0.08992	T	0.041	0.10877	0.22	0.14224	0.152612264143	0.14878	0.04357408691224846	0.04302	0.468257477009	0.46179	0.376539081335	0.21765	T	0.002171	0.01575	T	-0.338578	0.05488	T	-0.72412	0.04599	T	0.0721366364795119	0.08947	T	0.447055	0.12542	T	0.06499735	0.13846	0.04931358	0.07511	0.06499735	0.13845	0.04931358	0.07510	-3.959	0.23188	T	.	.	0.101	0.17488	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.754305	0.11237	7.870	0.96678964915438559	0.30693	0.02131	0.06287	N	AEFGBHCI	0.035871	0.04686	N	-0.868596567338932	0.11594	0.5604123	-0.798539370507783	0.14531	0.7597105	0.999998664114163	0.74766	0.660377	0.49826	0	0.672317	0.65289	0	0.723109	0.80598	0	0.592323	0.36904	0	.	.	4.1	1.62	0.22817	-0.017000	0.12529	.	.	0.756000	0.94297	0.001000	0.13787	0.623000	0.25826	0.852000	0.40310	0.6831:0.2066:0.1103:0.0	4.214	0.09982	982	0.03397	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	946.43	39	chr8	143269479	.	A	G	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.612;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.985;SOR=0.779	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	9	0	1	0
chr8	143316030	143316030	A	G	exonic	TOP1MT	.	nonsynonymous SNV	TOP1MT:NM_001258447:exon11:c.T1133C:p.F378S,TOP1MT:NM_052963:exon11:c.T1427C:p.F476S,TOP1MT:NM_001258446:exon12:c.T1133C:p.F378S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.0117431167847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41915	D	0.037	0.51737	D	0.999	0.77913	D	0.961	0.70482	D	0.000222	0.47286	U	0.000000	1	0.81001	D	2.96	0.85114	M	0.94	0.43672	T	-4.9	0.81514	D	0.738	0.73826	-0.4221	0.71323	T	0.297	0.66877	T	10	0.7891989	0.78512	D	0.011743	0.29664	T	0.307	0.62838	0.497	0.58678	0.624741333878	0.62169	0.31637540148418153	0.31550	0.979302735687	0.73680	0.579022407532	0.49948	T	0.519791	0.83185	D	0.0691592	0.60746	T	-0.138434	0.60253	T	0.992807984352112	0.83385	D	0.979882	0.93166	D	0.40344724	0.60971	0.3766681	0.62784	0.40344724	0.60971	0.3766681	0.62784	-10.01	0.73972	D	.	.	0.215	0.52351	B	.;.;.;.	.;.;.;.	3.709012	0.52937	23.3	0.99688152044638778	0.79708	0.89539	0.50068	D	AEFDGBI	0.657220	0.62893	D	0.298010785129917	0.56047	3.76902	0.0604746454836407	0.42579	2.577986	0.999948938344507	0.47345	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	3.37	3.37	0.37692	4.752000	0.61873	.	.	0.681000	0.82415	1.000000	0.71638	0.952000	0.29052	0.005000	0.06747	1.0:0.0:0.0:0.0	11.279	0.48415	976	0.04745	DNA topoisomerase I, catalytic core, eukaryotic-type|DNA topoisomerase I, eukaryotic-type;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2171.43	35	chr8	143316030	.	A	G	2171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.994;DP=597;ExcessHet=0;FS=1.123;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.352;SOR=0.793	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	9	0	1	0
chr8	143441023	143441023	C	T	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon10:c.G2405A:p.R802H	.	413	1098	9	2	0	13	0.00588502	.	.	.	2828591	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.045088624495	7.8e-05	.	0.0005	0	0.0002	0.0002	0	0.0007	0.0027	0.0006	0.0002652	41	154602	rs376452593	0.0004	0.0004	0.0003	0.0004	0.0062	0.0003	0.0003	0.0045	0.0040	0.0004	0.0004	4.844e-05	0	0	0.0062	0.0004	0.0006	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0	0	0.0001	0.0003	0	0	0.0034	0.0004	0.0005	0	0.048	0.40068	D	0.04	0.50809	D	0.007	0.14184	B	0.003	0.08700	B	0.157346	0.17772	N	0.583284	0.960667	0.38193	D	1.355	0.33814	L	0.9	0.45248	T	-1.76	0.41618	N	0.198	0.21839	-1.0035	0.28903	T	0.109	0.39320	T	10	0.026383966	0.00806	T	0.045089	0.61808	D	0.061	0.17616	.	.	0.0675242888579	0.06100	0.31857703184796843	0.31770	.	.	0.460419476032	0.33367	T	0.012078	0.10676	T	-0.374872	0.03355	T	-0.444189	0.28340	T	0.0188478194095808	0.00595	T	0.669433	0.27806	T	0.07451279	0.16725	0.055649504	0.09800	0.07451279	0.16725	0.055649504	0.09800	-4.795	0.34533	T	.	.	0.080	0.07602	B	.	.	1.926612	0.24471	16.41	0.99546987806850962	0.70898	0.32063	0.24493	N	AEFBI	0.110778	0.21955	N	-0.609091487301386	0.18671	0.9711796	-0.626902968846373	0.18803	1.006071	0.982288454794017	0.30377	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.76	2.9	0.32809	0.650000	0.24544	.	.	0.599000	0.40250	0.209000	0.24412	0.984000	0.30665	0.152000	0.20376	0.0:0.7662:0.1503:0.0835	8.901	0.34654	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004578	0.000000	0.010899	0.002941	0.050000	0.000000	0.000000	0.000000	0.05	1025.43	39	chr8	143441023	.	C	T	1025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.192;DP=410;ExcessHet=0;FS=1.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.338;SOR=0.879	GT:AD:DP:GQ:PL	0/1:37,47:84:99:1037,0,765	9	0	1	0
chr8	143570623	143570623	G	A	exonic	MROH6	.	nonsynonymous SNV	MROH6:NM_001100878:exon5:c.C755T:p.S252L	.	.	.	.	.	.	.	.	.	.	.	2342715	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0421765067171	.	.	6.281e-05	0.0001	0	0	0	8.119e-05	0	6.674e-05	4.53e-05	7	154602	rs756571004	3.732e-05	3.762e-05	3.852e-05	3.61e-05	0.0005	2.923e-05	2.619e-05	0.0001	7.544e-05	0	2.24e-05	0	0	0	0.0005	4.139e-05	4.982e-05	1.161e-05	3.285e-05	3.283e-05	5.138e-05	1.345e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0	0.065	0.63226	T	0.0	0.92824	D	0.999	0.90584	D	0.97	0.73820	D	.	.	.	.	0.979272	0.25193	N	1.935	0.51832	L	1.58	0.29085	T	-3.08	0.63323	D	0.57	0.59308	-1.0425	0.16562	T	0.136	0.45203	T	9	0.35766158	0.52476	T	0.042177	0.60324	D	0.203	0.48915	0.495	0.58363	0.21737058555	0.21362	0.2325196065791723	0.23166	0.269621044273	0.29486	0.719685912132	0.70001	T	0.059962	0.31257	T	-0.188305	0.22507	T	-0.321727	0.42386	T	0.341483503437241	0.26682	T	.	.	.	0.18186983	0.39378	0.20274615	0.44318	0.18186983	0.39377	0.20274615	0.44317	-6.927	0.53499	T	.	.	0.202	0.64302	B	.;.	.;.	4.587234	0.72525	25.8	0.99920312605079697	0.98721	0.50188	0.28605	D	AEFDGBCI	0.267634	0.38429	N	0.344430944348708	0.58446	4.016902	0.298718241714399	0.55466	3.710	0.999999999989585	0.74766	0.676563	0.55306	0	0.541168	0.11318	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	4.82	4.82	0.61641	2.365000	0.43849	.	.	0.672000	0.70159	0.986000	0.36153	1.000000	0.68203	0.731000	0.35132	0.0:0.0:1.0:0.0	15.423	0.74755	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	625.43	41	chr8	143570623	.	G	A	625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.64;ReadPosRankSum=0.671;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr8	143650149	143650149	A	G	exonic	ZNF623	.	nonsynonymous SNV	ZNF623:NM_014789:exon1:c.A277G:p.T93A,ZNF623:NM_001082480:exon2:c.A157G:p.T53A,ZNF623:NM_001261843:exon2:c.A157G:p.T53A	.	414	1089	18	1	0	20	0.00909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0057502112798	0.0020	0.00159744	0.0036	0.0005	0.0012	0	0.0062	0.0039	0.0011	0.0067	0.0034928	540	154602	rs141901810	0.0048	0.0048	0.0047	0.0049	0.0092	0.0047	0.0047	0.0072	0.0070	0.0006	0.0017	0.0002	2.519e-05	0.0044	0.0092	0.0051	0.0042	0.0077	0.0028	0.0028	0.0028	0.0028	0.0043	0.0026	0.0025	0.0039	0.0038	0.0005	0.0011	0.0024	0.0003	0	0.0046	0	0.0043	0.0019	0.0043	0.062	0.37966	T	0.026	0.57587	D	.	.	.	.	.	.	.	.	.	.	0.994708	0.23461	N	.	.	.	2.47	0.14783	T	-0.44	0.15178	N	0.044	0.02559	-0.9976	0.30590	T	0.032	0.13592	T	9	0.003913492	0.00075	T	0.00575	0.14922	T	0.080	0.23350	.	.	0.332646915603	0.32870	0.048393935203371874	0.04782	0.274352490652	0.29928	0.275649279356	0.06894	T	0.009832	0.08919	T	-0.687114	0.00044	T	-0.755623	0.03272	T	0.00154676861957796	0.00016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.04041	B	.;.;.	.;.;.	0.394799	0.07661	4.332	0.94362907156118903	0.24721	0.03267	0.08303	N	AEFBCI	0.117611	0.23033	N	-0.770492492523635	0.14084	0.698707	-0.804064001623287	0.14397	0.7520479	0.0636998290362513	0.15304	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	4.35	-1.26	0.08892	0.167000	0.16419	.	.	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.452000	0.27939	0.6286:0.1525:0.2189:0.0	5.246	0.14813	936	0.14734	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.002717	0.002924	0.000000	0.000000	0.021341	0.015152	0.1	3057.14	37	chr8	143650149	.	A	G	3057.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.966;DP=663;ExcessHet=0.2348;FS=1.37;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=1.69;SOR=0.597	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	8	0	2	0
chr8	143718894	143718894	C	T	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon5:c.C406T:p.R136W	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.13173241118	.	0.000199681	5.694e-05	0	9.261e-05	0	0	3.409e-05	0	0.0002	5.17e-05	8	154602	rs577107750	3.849e-05	3.967e-05	3.28e-05	4.425e-05	0.0005	3.04e-05	2.732e-05	0.0001	8.72e-05	0	2.261e-05	0	0	0	0.0005	3.247e-05	1.665e-05	0.0002	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.055457	0.999958	0.52396	D	4.2	0.97819	H	-0.16	0.65378	T	-7.8	0.96269	D	0.961	0.97750	0.174	0.85471	D	0.560	0.83956	D	10	0.9788414	0.97779	D	0.131732	0.81400	D	0.606	0.84506	0.965	0.99654	0.851754483839	0.85032	0.888407289801753	0.88809	0.175079127471	0.19712	0.607364535332	0.53943	T	0.385978	0.74725	T	0.0884187	0.63010	D	0.168666	0.81332	D	0.994650423526764	0.86077	D	0.990301	0.97315	D	0.8590929	0.88016	0.65185213	0.79627	0.8590929	0.88017	0.65185213	0.79628	-12.863	0.88791	D	.	.	0.419	0.82761	A	.;.;.	.;.;.	4.988166	0.82676	27.8	0.9977685072650766	0.86433	0.79336	0.39294	D	ALL	.	.	.	0.406327468882624	0.61770	4.382664	0.16683405126499	0.48039	3.025491	0.999999999961958	0.74766	0.650006	0.45971	0	0.626922	0.53725	0	0.606735	0.37207	0	0.562822	0.20929	0	.	.	3.42	1.19	0.20120	1.085000	0.30452	.	.	0.527000	0.24520	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.4365:0.5635:0.0:0.0	9.685	0.39261	895	0.25842	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4256.12	135	chr8	143718894	.	C	T	4256.12	.	AC=2;AF=0.1;AN=20;DP=506;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.53;SOR=0.973	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,1056	9	1	0	0
chr8	143719399	143719399	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon7:c.G638A:p.R213Q	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0211258169129	0.0019	0.00119808	0.0006	0.0048	0	0	0	7.691e-05	0	0.0007	0.0004786	74	154602	rs149683519	0.0002	0.0002	0.0002	0.0002	0.0048	0.0002	0.0002	0.0042	0.0040	0.0048	0.0002	0	5.045e-05	0	0.0004	5.671e-05	0.0004	0.0004	0.0014	0.0014	0.0013	0.0014	0.0044	0.0012	0.0012	0.0039	0.0037	0.0044	0	0.0008	0	0	0	0	0.0001	0.0019	0	0.472	0.09866	T	0.627	0.08161	T	0.532	0.37747	P	0.189	0.36295	B	0.002761	0.35968	N	0.233835	0.905709	0.27611	N	0.805	0.20218	L	0.96	0.42888	T	-1.17	0.29933	N	0.327	0.36779	-1.0577	0.12337	T	0.034	0.14421	T	10	0.013413817	0.00284	T	0.021126	0.43850	T	0.034	0.08419	.	.	0.545653783935	0.54219	0.4725594373684126	0.47174	0.175580975443	0.19770	0.458374142647	0.33087	T	0.02337	0.17850	T	-0.576683	0.00202	T	-0.599775	0.12830	T	0.0183173702716272	0.00550	T	0.89531	0.63576	D	0.09656366	0.22747	0.10256139	0.24584	0.09656366	0.22746	0.10256139	0.24583	-7.397	0.56883	T	.	.	0.084	0.18497	B	.;.;.	.;.;.	2.850907	0.37639	20.5	0.85660178985436541	0.16032	0.30706	0.24151	N	AEFDGBCI	0.313459	0.41860	N	-0.578209887744595	0.19607	1.02753	-0.560268126467855	0.20533	1.106708	0.999997746959656	0.74766	0.634777	0.41761	0	0.626922	0.53725	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.14	2.09	0.26154	1.585000	0.36210	.	.	0.618000	0.50648	0.526000	0.27158	0.098000	0.22634	0.387000	0.26492	0.0:0.14:0.4826:0.3774	6.339	0.20518	895	0.25842	Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1966.43	39	chr8	143719399	.	G	A	1966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.732;DP=584;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.193;SOR=0.759	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr8	143720714	143720714	C	T	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon9:c.C791T:p.T264M	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0004	0.00579073	0.0057	0.0004	0.0424	0.0142	0.0103	0.0009	0.0016	0.0009	0.0041138	636	154602	rs146609910	0.0017	0.0017	0.0019	0.0016	0.0250	0.0016	0.0016	0.0238	0.0233	0.0005	0.0250	0.0004	0.0160	0.0066	0.0012	0.0002	0.0012	0.0003	0.0024	0.0024	0.0021	0.0026	0.0131	0.0022	0.0021	0.0106	0.0097	0.0006	0	0.0094	0.0006	0.0131	0.0085	0	0.0004	0.0005	0	0.232	0.18184	T	0.252	0.23570	T	0.968	0.56581	D	0.827	0.59428	P	0.003222	0.35241	N	0.273852	1	0.08975	N	1.645	0.42016	L	0.92	0.44461	T	-3.04	0.62863	D	0.267	0.30233	-1.0188	0.24106	T	0.064	0.26385	T	10	0.006958276	0.00158	T	.	.	.	0.093	0.26882	.	.	0.630531396591	0.62751	0.4058061931261441	0.40496	0.146378424685	0.16520	0.515318334103	0.40968	T	0.09621	0.39779	T	-0.609485	0.00128	T	-0.627988	0.10568	T	0.0446910830741326	0.04546	T	.	.	.	0.033374816	0.03544	0.05719384	0.10352	0.033374816	0.03543	0.05719384	0.10352	-9.074	0.68172	D	.	.	0.093	0.14201	B	.	.	2.404202	0.30891	18.58	0.99378876076603795	0.61803	0.60511	0.31216	D	AEFDGBCI	0.106464	0.21241	N	-0.387458348644193	0.25914	1.410391	-0.586124975877535	0.19854	1.067125	0.999989639172983	0.51787	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.77	-0.642	0.10909	0.909000	0.28180	.	.	-0.960000	0.01985	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1688:0.469:0.1645:0.1977	1.510	0.02344	895	0.25842	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3554.14	33	chr8	143720714	.	C	T	3554.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.43;DP=586;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=1.38;SOR=0.688	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	8	0	2	0
chr8	143726127	143726127	T	C	exonic	FAM83H	.	nonsynonymous SNV	FAM83H:NM_198488:exon5:c.A3334G:p.S1112G	Amelogenesis imperfecta, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00961944115198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.741e-06	2.736e-06	4.091e-06	1.378e-06	2.324e-05	6.4e-07	4.3e-07	3.86e-06	1.44e-06	0	0	0	0	0	0	1.8e-06	0	2.324e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.30235	T	0.189	0.28575	T	0.001	0.07471	B	0.001	0.04355	B	0.005725	0.32555	U	0.127393	1	0.08975	N	0.805	0.20218	L	2.35	0.16217	T	-1.94	0.45042	N	0.094	0.07398	-1.0076	0.27665	T	0.021	0.08917	T	10	0.07820645	0.12438	T	0.009619	0.25153	T	0.041	0.10877	0.24	0.17218	0.043077524339	0.03247	0.1770575364561284	0.17624	0.29954529825	0.32320	0.664747953415	0.62088	T	0.009545	0.08688	T	-0.298953	0.08759	T	-0.667202	0.07789	T	0.151396483182907	0.17214	T	.	.	.	0.11425628	0.26977	0.07445161	0.16288	0.11425628	0.26976	0.07445161	0.16288	-3.61	0.18002	T	.	.	0.064	0.01668	B	.	.	2.806968	0.36937	20.4	0.9841676847466001	0.41234	0.77866	0.38337	D	AEFDGBCI	0.203106	0.32964	N	-0.635419671341757	0.17888	0.9242987	-0.545730483743071	0.20919	1.129256	0.999461184664847	0.39843	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.96	1.21	0.20240	2.006000	0.40493	.	.	0.663000	0.56723	1.000000	0.71638	0.841000	0.27301	0.983000	0.59808	0.1373:0.2122:0.0:0.6505	4.373	0.10691	889	0.27310	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	413.43	33	chr8	143726127	.	T	C	413.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.507;DP=400;ExcessHet=0;FS=2.3;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=-1.76;SOR=0.89	GT:AD:DP:GQ:PL	0/1:39,21:60:99:425,0,943	9	0	1	0
chr8	143858184	143858184	G	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.C15070T:p.R5024C	.	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782565047	2.26e-05	3.625e-05	2.181e-05	2.34e-05	0.0009	1.612e-05	1.418e-05	0.0003	0.0002	0	2.238e-05	0	0	0	0.0009	2.429e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.997728	0.44134	D	.	.	.	.	.	.	.	.	.	0.295	0.33360	0.531	0.90981	D	0.707	0.89940	D	9	0.35666573	0.52400	T	0.061408	0.68320	D	.	.	.	.	0.677981630403	0.67524	0.4812184297313549	0.48041	.	.	0.509471178055	0.40147	T	.	.	.	0.0403664	0.57095	T	0.120531	0.78270	D	0.981123626232147	0.73735	D	0.951405	0.81464	D	0.24022305	0.46922	0.20380035	0.44474	0.24022305	0.46922	0.20380035	0.44473	-10.408	0.76317	D	.	.	0.695	0.72749	P	.;.	.;.	4.931106	0.81297	27.5	0.99931897384950674	0.99439	0.98328	0.81675	D	AEFGBI	.	.	.	0.862199369215263	0.89792	10.11925	0.775917995911619	0.88073	9.447602	0.999998538071726	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	5.06	0.67838	2.000000	0.40435	.	.	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.974	0.79840	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	158.43	45	chr8	143858184	.	G	A	158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.694;DP=696;ExcessHet=0;FS=28.618;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.51;MQRankSum=-5.072;QD=0.67;ReadPosRankSum=2.57;SOR=1.169	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	9	0	1	0
chr8	143859141	143859141	T	-	exonic	EPPK1	.	frameshift deletion	EPPK1:NM_031308:exon2:c.14113delA:p.T4705Pfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	54.41	7	chr8	143859140	.	GT	G	54.41	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=120;ExcessHet=0;FS=0;InbreedingCoeff=-0.0542;MLEAC=1;MLEAF=0.05;MQ=39.25;MQRankSum=0;QD=6.8;ReadPosRankSum=-0.992;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:15:45:.:.:0,45,403:.	9	0	1	0
chr8	143868161	143868161	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G5093A:p.R1698H	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0301147713172	8e-05	0.00159744	0.0005	0.0002	8.69e-05	0	0	3.046e-05	0.0011	0.0033	0.0004528	70	154602	rs375880231	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	5.974e-05	0	0	7.557e-05	0	0.0003	2.158e-05	0.0004	0.0031	0.0003	0.0003	0.0001	0.0004	0.0056	0.0002	0.0002	0.0039	0.0034	0.0002	0	0	0	0.0002	0	0	5.879e-05	0	0.0056	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.762364	0.34053	D	3.22	0.89398	M	.	.	.	.	.	.	0.146	0.15888	0.533	0.91006	D	0.656	0.88019	D	9	0.0101315975	0.00227	T	0.030115	0.52495	D	.	.	.	.	0.710744704529	0.70821	0.3741353890439798	0.37327	.	.	0.414497375488	0.27079	T	0.201658	0.55960	T	-0.301257	0.08543	T	-0.207932	0.53893	T	0.141785751764003	0.16428	T	0.936406	0.76145	D	0.20420343	0.42522	0.18565188	0.41691	0.20420343	0.42522	0.18565188	0.41690	-7.116	0.54875	T	.	.	0.403	0.59722	A	.;.	.;.	4.515711	0.70752	25.6	0.99092996928053434	0.52272	0.92287	0.55365	D	AEFGBI	0.361025	0.45079	N	0.547252821898216	0.69914	5.425343	0.441874054783854	0.64196	4.669364	0.999999976035141	0.74766	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	4.84	4.84	0.62125	3.236000	0.51035	.	.	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.084000	0.17470	0.0:1.0:0.0:0.0	15.472	0.75180	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3164.43	75	chr8	143868161	.	C	T	3164.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=947;ExcessHet=0;FS=3.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.32;MQRankSum=0.785;QD=11.34;ReadPosRankSum=1.25;SOR=0.741	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	9	0	1	0
chr8	143868628	143868628	C	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G4626T:p.K1542N	.	6	1490	25	1	0	27	0.00897905	.	.	.	2828627	EPPK1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.014127203922	0.0056	0.00199681	0.0069	0.0011	0.0024	0	0.0011	0.0092	0.0075	0.0080	0.0040103	620	154602	rs142520085	0.0060	0.0059	0.0059	0.0060	0.0106	0.0058	0.0058	0.0085	0.0077	0.0011	0.0028	0.0101	0	0.0006	0.0106	0.0065	0.0051	0.0069	0.0038	0.0038	0.0041	0.0036	0.0062	0.0036	0.0035	0.0054	0.0052	0.0012	0	0.0035	0.0092	0	0.0006	0.0068	0.0059	0.0061	0.0062	.	.	.	0.075	0.42794	T	.	.	.	.	.	.	.	.	.	.	0.997536	0.22619	N	1.32	0.33002	L	.	.	.	.	.	.	0.112	0.10911	-1.0270	0.21429	T	0.114	0.40582	T	9	0.004077077	0.00080	T	0.014127	0.34038	T	.	.	0.372	0.38340	0.281381271821	0.27740	0.3891870470861689	0.38833	.	.	0.291262388229	0.09107	T	0.099349	0.40408	T	-0.578915	0.00196	T	-0.599923	0.12817	T	0.00858199139413536	0.00105	T	0.360864	0.08314	T	0.17752025	0.38722	0.14357136	0.34115	0.17752025	0.38722	0.14357136	0.34114	-5.737	0.44022	T	.	.	0.258	0.49275	B	.;.	.;.	2.820678	0.37159	20.4	0.99096452317211847	0.52346	0.36982	0.25658	N	AEFBCI	0.303024	0.41111	N	-0.66727533020093	0.16958	0.8686102	-0.618272603268133	0.19023	1.018887	0.997830648112887	0.36087	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.41	3.44	0.38486	0.027000	0.13512	.	.	0.549000	0.26987	0.508000	0.27017	0.000000	0.08366	0.429000	0.27427	0.0:0.8819:0.0:0.1181	9.149	0.36112	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006572	0.000000	0.005464	0.008772	0.000000	0.000000	0.006211	0.011364	0.05	1482.43	75	chr8	143868628	.	C	A	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.737;DP=778;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.134;SOR=0.697	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	9	0	1	0
chr8	143872595	143872595	C	T	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G659A:p.R220H	.	9	1503	10	0	0	10	0.00331565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0173899213941	0.0002	0.000199681	0.0003	0	0.0002	0	0	0.0004	0	0.0005	0.0002717	42	154602	rs200639583	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	8.964e-05	0.0001	0	2.521e-05	5.947e-05	0.0019	0.0004	0.0004	0.0007	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	7.214e-05	0	6.53e-05	0	0.0002	9.409e-05	0	0.0004	0.0005	0.0010	.	.	.	0.172	0.30339	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.084	0.07262	-0.9614	0.38916	T	0.082	0.32178	T	9	0.020181328	0.00461	T	0.01739	0.39069	T	.	.	.	.	0.223847106136	0.22009	0.3200289533245384	0.31915	.	.	0.320281237364	0.13464	T	0.063482	0.32186	T	-0.547072	0.00304	T	-0.666123	0.07859	T	0.0127068060179515	0.00214	T	0.512749	0.16428	T	0.021439288	0.00746	0.023155311	0.00331	0.021439288	0.00746	0.023155311	0.00331	-6.008	0.46347	T	.	.	0.1	0.17146	B	.;.	.;.	-0.459624	0.02000	0.177	0.90786543797431174	0.20035	0.01608	0.05209	N	AEFDBCI	0.035299	0.04519	N	-1.40890633327884	0.02560	0.1131995	-1.61574395645006	0.01562	0.0708171	0.999999995869454	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.14	-8.27	0.00892	-1.576000	0.02233	.	.	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1957:0.1941:0.3928:0.2174	1.963	0.03185	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.1	2935.14	59	chr8	143872595	.	C	T	2935.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.41;DP=685;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.748;SOR=0.717	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	8	0	2	0
chr8	143918086	143918086	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.G11693A:p.R3898Q,PLEC:NM_201379:exon32:c.G11669A:p.R3890Q,PLEC:NM_201380:exon32:c.G12146A:p.R4049Q,PLEC:NM_201381:exon32:c.G11639A:p.R3880Q,PLEC:NM_201382:exon32:c.G11735A:p.R3912Q,PLEC:NM_201383:exon32:c.G11747A:p.R3916Q,PLEC:NM_201384:exon32:c.G11735A:p.R3912Q,PLEC:NM_000445:exon33:c.G11816A:p.R3939Q	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1511	10	1	0	12	0.00395517	.	.	.	371593	not_provided|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MedGen:C3661900|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	0.0117139036962	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	7.76e-05	12	154602	rs781960031	0.0001	0.0001	9.362e-05	0.0002	0.0026	0.0001	0.0001	0.0016	0.0013	3.009e-05	0	3.871e-05	0	2.173e-05	0.0026	8.314e-05	0.0002	0.0007	7.885e-05	7.879e-05	2.57e-05	0.0001	0.0002	4.497e-05	3.512e-05	3.762e-05	2.575e-05	9.648e-05	0	0	0	0	9.413e-05	0	8.821e-05	0	0.0002	0.88	0.02544	T	0.781	0.04571	T	0.0	0.02946	B	0.0	0.01387	B	0.542849	0.11517	N	0.759207	0.98992	0.24236	N	-1.78	0.00307	N	-0.36	0.68754	T	1.0	0.01664	N	0.059	0.14338	-1.0083	0.27448	T	0.080	0.31765	T	10	0.01863417	0.00407	T	0.011714	0.29605	T	0.089	0.25827	.	.	0.436886369515	0.43307	0.1431739061591585	0.14240	.	.	0.214695975184	0.01026	T	0.055403	0.29997	T	-0.498992	0.00579	T	-0.58463	0.14133	T	0.0217743504229817	0.00883	T	0.808919	0.49863	T	0.05155982	0.09486	0.0631005	0.12448	0.05155982	0.09486	0.0631005	0.12447	-4.077	0.24950	T	0.06864876792644567	0.02510	0.055	0.00390	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.788762	0.22740	15.74	0.92620615732865863	0.22089	0.19008	0.20491	N	AEFDGBCI	0.064356	0.12493	N	-0.877731031202601	0.11374	0.5485302	-0.636634121750031	0.18555	0.9917045	0.999662432073438	0.41534	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.63	2.25	0.27340	2.799000	0.47586	.	.	-0.192000	0.09343	0.998000	0.41325	0.999000	0.35428	0.979000	0.57723	0.0:0.1823:0.0:0.8177	7.843	0.28574	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002528	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	6543.12	186	chr8	143918086	.	C	T	6543.12	.	AC=2;AF=0.1;AN=20;DP=877;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=23.43;SOR=1.559	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1057	9	1	0	0
chr8	143918969	143918969	T	C	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.A10810G:p.M3604V,PLEC:NM_201379:exon32:c.A10786G:p.M3596V,PLEC:NM_201380:exon32:c.A11263G:p.M3755V,PLEC:NM_201381:exon32:c.A10756G:p.M3586V,PLEC:NM_201382:exon32:c.A10852G:p.M3618V,PLEC:NM_201383:exon32:c.A10864G:p.M3622V,PLEC:NM_201384:exon32:c.A10852G:p.M3618V,PLEC:NM_000445:exon33:c.A10933G:p.M3645V	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	636664	not_provided|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia	MedGen:C3661900|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.110025468239	7.7e-05	0.000199681	7.555e-05	0.0004	0	0.0004	0	1.527e-05	0	6.06e-05	6.47e-05	10	154602	rs376442504	1.92e-05	2.052e-05	1.092e-05	2.756e-05	0.0002	1.331e-05	1.146e-05	9.928e-05	7.224e-05	0.0001	0.0001	0	0.0002	0	0	5.396e-06	3.313e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.572e-05	6.278e-05	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	0.04	0.42487	D	0.022	0.59732	D	0.001	0.07471	B	0.004	0.10090	B	0.000000	0.84330	U	0.000000	0.999867	0.50061	D	0.89	0.21648	L	-1.24	0.79277	T	-1.48	0.36586	N	0.375	0.49237	-0.7372	0.58596	T	0.266	0.63695	T	10	0.14361328	0.27263	T	0.110025	0.78724	D	0.268	0.58254	.	.	0.707087877747	0.70453	0.748091437906144	0.74755	.	.	0.77140390873	0.77635	T	0.097761	0.40091	T	-0.208309	0.19617	T	-0.206997	0.53981	T	0.021950599449496	0.00903	T	0.884911	0.60954	D	0.2510183	0.48107	0.3246395	0.58386	0.2510183	0.48107	0.3246395	0.58385	-4.006	0.23893	T	0.5682943679152643	0.63561	0.671	0.71783	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.887086	0.23966	16.22	0.85837446686517049	0.16144	0.94726	0.62119	D	AEFDGBCI	0.733909	0.68020	D	-0.267258554041449	0.30420	1.696059	-0.138061801779062	0.33871	1.942141	0.999999413052442	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.35	3.18	0.35615	4.967000	0.63433	.	.	-0.120000	0.14102	1.000000	0.71638	0.998000	0.33993	0.005000	0.06747	0.0:0.0848:0.0:0.9152	9.694	0.39313	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	6849.43	231	chr8	143918969	.	T	C	6849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.01;DP=1979;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.975;SOR=0.698	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1057	9	0	1	0
chr8	143920994	143920994	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8785T:p.R2929W,PLEC:NM_201379:exon32:c.C8761T:p.R2921W,PLEC:NM_201380:exon32:c.C9238T:p.R3080W,PLEC:NM_201381:exon32:c.C8731T:p.R2911W,PLEC:NM_201382:exon32:c.C8827T:p.R2943W,PLEC:NM_201383:exon32:c.C8839T:p.R2947W,PLEC:NM_201384:exon32:c.C8827T:p.R2943W,PLEC:NM_000445:exon33:c.C8908T:p.R2970W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	636684	Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy	MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.595	0.329288084514	.	.	5.028e-05	0.0001	0	0.0001	0	3.046e-05	0.0011	6.061e-05	3.88e-05	6	154602	rs760837198	1.575e-05	1.573e-05	1.499e-05	1.651e-05	0.0003	1.049e-05	8.76e-06	6.092e-05	2.521e-05	2.987e-05	4.472e-05	3.826e-05	0	0	0.0003	9.892e-06	6.625e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.002	0.72154	D	0.027	0.55759	D	0.98	0.59353	D	0.606	0.50970	P	0.000564	0.43250	U	0.092502	0.99862	0.45182	D	2.78	0.81115	M	-1.13	0.78082	T	-4.43	0.77554	D	0.449	0.51851	0.138	0.84846	D	0.522	0.82163	D	10	0.72715145	0.74050	D	0.329288	0.91704	D	0.595	0.83911	0.546	0.66015	0.749547688671	0.74728	0.5502641380807304	0.54952	.	.	0.488075256348	0.37171	T	0.513952	0.82872	D	-0.0510421	0.44287	T	-0.128948	0.61062	T	0.949411273002625	0.63109	D	0.940306	0.77472	D	0.11990081	0.28224	0.1039338	0.24949	0.11990081	0.28223	0.1039338	0.24948	-8.517	0.64541	D	0.559924777812093	0.62776	0.108	0.26607	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.204125	0.63463	24.6	0.97899086236752564	0.36731	0.90450	0.51636	D	AEFDGBCI	0.736643	0.68208	D	0.456604559430188	0.64579	4.71562	0.408612973189728	0.62101	4.419939	0.999999989635549	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	3.94	0.44807	4.446000	0.59756	.	.	0.660000	0.55035	0.978000	0.35038	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.8436:0.1564	13.649	0.61775	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	7819.43	115	chr8	143920994	.	G	A	7819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.893;DP=1244;ExcessHet=0;FS=1.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.484;SOR=0.67	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1057	9	0	1	0
chr8	143921461	143921461	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8318T:p.S2773F,PLEC:NM_201379:exon32:c.C8294T:p.S2765F,PLEC:NM_201380:exon32:c.C8771T:p.S2924F,PLEC:NM_201381:exon32:c.C8264T:p.S2755F,PLEC:NM_201382:exon32:c.C8360T:p.S2787F,PLEC:NM_201383:exon32:c.C8372T:p.S2791F,PLEC:NM_201384:exon32:c.C8360T:p.S2787F,PLEC:NM_000445:exon33:c.C8441T:p.S2814F	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.353103324954	.	.	8.371e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs781957922	2.053e-06	2.052e-06	1.362e-06	2.752e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000011	0.62929	U	0.000000	1	0.81001	D	3.695	0.94570	H	-0.81	0.73949	T	-3.89	0.73042	D	0.656	0.84298	0.370	0.88649	D	0.619	0.86580	D	10	0.92530084	0.91879	D	0.353103	0.92320	D	0.724	0.90280	0.809	0.92581	0.79161799632	0.78968	0.8396967860581386	0.83929	.	.	0.669523835182	0.62770	T	0.632413	0.88624	D	0.18414	0.72424	D	0.026728	0.72066	D	0.990523755550385	0.80746	D	0.988539	0.96067	D	0.32606044	0.55146	0.31440884	0.57433	0.32606044	0.55146	0.31440884	0.57433	-14.926	0.95677	D	0.7069809631973496	0.78672	0.922	0.85211	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.782762	0.54398	23.5	0.8556016677382613	0.15969	0.98452	0.82924	D	AEFDGBCI	0.923211	0.89933	D	0.765359388934148	0.83899	8.140469	0.672634467462179	0.80308	7.26976	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	9.788000	0.98207	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	18.196	0.89756	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4216.43	325	chr8	143921461	.	G	A	4216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.455;DP=1975;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=0.925;QD=11.78;ReadPosRankSum=-1.717;SOR=0.644	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1057	9	0	1	0
chr8	143921870	143921870	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C7909T:p.R2637W,PLEC:NM_201379:exon32:c.C7885T:p.R2629W,PLEC:NM_201380:exon32:c.C8362T:p.R2788W,PLEC:NM_201381:exon32:c.C7855T:p.R2619W,PLEC:NM_201382:exon32:c.C7951T:p.R2651W,PLEC:NM_201383:exon32:c.C7963T:p.R2655W,PLEC:NM_201384:exon32:c.C7951T:p.R2651W,PLEC:NM_000445:exon33:c.C8032T:p.R2678W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	271858	PLEC-related_disorder|not_specified|Multiple_sclerosis|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|not_provided	.|MedGen:CN169374|MONDO:MONDO:0005301,MedGen:C0026769,Orphanet:802|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0892679421351	0.0002	0.000998403	0.0013	0	0.0012	0	0	0.0003	0	0.0066	0.0010284	159	154602	rs145977158	0.0007	0.0007	0.0005	0.0009	0.0076	0.0007	0.0007	0.0071	0.0069	0.0002	0.0017	0.0002	2.52e-05	2.374e-05	0.0042	0.0002	0.0012	0.0076	0.0008	0.0008	0.0006	0.0011	0.0070	0.0007	0.0007	0.0052	0.0045	7.213e-05	0	0.0044	0	0	0	0.0034	0.0003	0.0009	0.0070	0.004	0.68238	D	0.011	0.65728	D	0.831	0.46109	P	0.219	0.39259	B	0.692613	0.10162	U	0.826770	0.999635	0.21810	N	0.69	0.16971	N	-0.43	0.69657	T	-1.36	0.33998	N	0.332	0.43706	-0.8740	0.50226	T	0.154	0.48516	T	10	0.006946206	0.00158	T	0.089268	0.75294	D	0.183	0.45592	.	.	0.467585353272	0.46384	0.7072283168383423	0.70664	.	.	0.288746058941	0.08740	T	0.239113	0.60715	T	-0.399757	0.02324	T	-0.343413	0.39959	T	0.0332422785504829	0.02511	T	0.982268	0.94010	D	0.121557176	0.28582	0.12775183	0.30746	0.12331171	0.28957	0.14040746	0.33468	-7.494	0.57568	T	0.12590170632301834	0.12611	0.133	0.28693	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.524328	0.49421	22.8	0.97520560472244899	0.34400	0.72046	0.35280	D	AEFDBHCI	0.559912	0.56853	D	-0.182731884891823	0.33853	1.925437	-0.152397208456512	0.33318	1.904501	0.999999874411303	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.95	3.95	0.44952	2.649000	0.46321	.	.	0.655000	0.54021	0.061000	0.21800	0.998000	0.33993	0.751000	0.35822	0.0:0.0:1.0:0.0	16.128	0.81216	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010101	0.000000	0.010899	0.008772	0.000000	0.017241	0.012346	0.007576	0.05	2302.43	44	chr8	143921870	.	G	A	2302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.516;DP=613;ExcessHet=0;FS=4.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.924;SOR=0.98	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,101,1057	9	0	1	0
chr8	143923465	143923465	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C6422T:p.A2141V,PLEC:NM_201379:exon31:c.C6398T:p.A2133V,PLEC:NM_201380:exon31:c.C6875T:p.A2292V,PLEC:NM_201381:exon31:c.C6368T:p.A2123V,PLEC:NM_201382:exon31:c.C6464T:p.A2155V,PLEC:NM_201383:exon31:c.C6476T:p.A2159V,PLEC:NM_201384:exon31:c.C6464T:p.A2155V,PLEC:NM_000445:exon32:c.C6545T:p.A2182V	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	425783	Inborn_genetic_diseases|not_provided|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.359	0.212209505945	0.0002	0.000199681	0.0003	0	0.0002	0.0001	0.0002	0.0003	0	0.0008	0.0002329	36	154602	rs201922111	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0007	0.0007	0	0.0001	0	7.568e-05	2.143e-05	0.0003	0.0002	0.0001	0.0009	0.0001	0.0001	0.0001	0.0001	0.0008	6.512e-05	5.323e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	0.0001	0.0005	0.0008	0.006	0.63226	D	0.212	0.30828	T	0.995	0.67487	D	0.607	0.51000	P	0.008098	0.31024	U	0.191212	0.999902	0.50806	D	2.085	0.57729	M	-1.16	0.78427	T	-1.15	0.29933	N	0.353	0.44474	0.055	0.83340	D	0.489	0.80555	T	10	0.10185927	0.18635	T	0.21221	0.87344	D	0.359	0.67962	.	.	0.807009537531	0.80520	0.3950779651247451	0.39422	.	.	0.61456143856	0.54960	T	0.076119	0.35342	T	-0.202928	0.20384	T	-0.160519	0.58306	T	0.0775820159029137	0.09675	T	0.90121	0.65680	D	0.09994512	0.23592	0.15569592	0.36485	0.09994512	0.23592	0.15569592	0.36484	-5.874	0.46381	T	0.6888987233967939	0.76633	0.122	0.27039	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.843219	0.55623	23.6	0.97553973516273185	0.34582	0.93936	0.59622	D	AEFDBCI	0.596250	0.59049	D	0.495979261390396	0.66854	5.004434	0.484759286236825	0.66979	5.023174	0.999999999918634	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.98	4.98	0.65679	3.895000	0.55971	.	.	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:1.0:0.0	17.835	0.88605	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.001359	0.002924	0.000000	0.000000	0.003106	0.000000	0.05	1986.43	108	chr8	143923465	.	G	A	1986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.023;DP=730;ExcessHet=0;FS=4.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=1.82;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	0	1	0
chr8	143923604	143923604	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.C6283T:p.R2095W,PLEC:NM_201379:exon31:c.C6259T:p.R2087W,PLEC:NM_201380:exon31:c.C6736T:p.R2246W,PLEC:NM_201381:exon31:c.C6229T:p.R2077W,PLEC:NM_201382:exon31:c.C6325T:p.R2109W,PLEC:NM_201383:exon31:c.C6337T:p.R2113W,PLEC:NM_201384:exon31:c.C6325T:p.R2109W,PLEC:NM_000445:exon32:c.C6406T:p.R2136W	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1007809	not_provided|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.46762167759	.	.	4.521e-05	0	0	0	0	6.219e-05	0	7.072e-05	2.59e-05	4	154602	rs782507277	9.229e-05	9.373e-05	0.0001	7.252e-05	0.0004	7.936e-05	7.41e-05	9.583e-05	8.958e-05	0	0	0	2.538e-05	0	0.0004	0.0001	6.685e-05	2.334e-05	6.584e-06	6.571e-06	1.287e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.02	0.50132	D	0.018	0.62352	D	0.956	0.54666	P	0.292	0.42281	B	0.283919	0.14893	U	0.593254	0.98993	0.24236	N	0	0.06538	N	-1.2	0.79176	T	-2.23	0.50337	N	0.202	0.27435	-0.7800	0.56303	T	0.252	0.62189	T	10	0.18511364	0.33917	T	0.467622	0.94624	D	0.198	0.48105	0.175	0.08135	0.469333501611	0.46562	0.32108391096166905	0.32021	.	.	0.402612149715	0.25433	T	0.246543	0.61603	T	-0.211686	0.19143	T	-0.354676	0.38668	T	0.0948226386341798	0.11777	T	0.869813	0.57430	D	0.118241616	0.27862	0.092371196	0.21765	0.118241616	0.27862	0.092371196	0.21765	-6.547	0.51690	T	0.13228371529694186	0.14090	0.096	0.18164	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.344251	0.46092	22.2	0.97388967177320007	0.33711	0.77380	0.38039	D	AEFDBCI	0.457114	0.50870	N	-0.196439455638397	0.33281	1.886455	-0.204237263402712	0.31384	1.775602	0.999999173048997	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.76	3.85	0.43556	1.534000	0.35656	.	.	-0.120000	0.14102	0.510000	0.27033	0.865000	0.27529	0.948000	0.49324	0.0:0.0:0.8362:0.1638	13.436	0.60537	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000509	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1	1681.12	50	chr8	143923604	.	G	A	1681.12	.	AC=2;AF=0.1;AN=20;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.62;SOR=1.39	GT:AD:DP:GQ:PL	0/0:34,0:34:90:0,90,1350	9	1	0	0
chr8	143924276	143924276	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5611A:p.A1871T,PLEC:NM_201379:exon31:c.G5587A:p.A1863T,PLEC:NM_201380:exon31:c.G6064A:p.A2022T,PLEC:NM_201381:exon31:c.G5557A:p.A1853T,PLEC:NM_201382:exon31:c.G5653A:p.A1885T,PLEC:NM_201383:exon31:c.G5665A:p.A1889T,PLEC:NM_201384:exon31:c.G5653A:p.A1885T,PLEC:NM_000445:exon32:c.G5734A:p.A1912T	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	2	1514	6	0	0	6	0.00197759	.	.	.	266524	not_specified|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|not_provided	MedGen:CN169374|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.280	.	8e-05	0.00878594	0.0044	0.0001	0.0081	0.0308	0.0085	0.0010	0.0041	0.0014	0.0035122	543	154602	rs201070741	0.0020	0.0020	0.0020	0.0020	0.0429	0.0019	0.0019	0.0412	0.0405	0.0002	0.0062	0.0004	0.0429	0.0064	0.0007	0.0003	0.0025	0.0018	0.0026	0.0026	0.0023	0.0029	0.0374	0.0024	0.0023	0.0331	0.0314	0.0002	0	0.0022	0.0006	0.0374	0.0093	0	0.0006	0.0009	0.0037	0.081	0.37118	T	0.111	0.40110	T	1.0	0.90584	D	0.997	0.86255	D	0.009276	0.30438	U	0.190729	0.948955	0.37631	D	1.265	0.31966	L	-2.87	0.91478	D	-1.14	0.29727	N	0.551	0.58713	0.350	0.88331	D	0.625	0.86821	D	10	0.0057498217	0.00128	T	.	.	.	0.280	0.59740	.	.	0.764658292166	0.76251	0.4453153047724098	0.44449	.	.	0.514962077141	0.40918	T	0.099441	0.40426	T	-0.262414	0.12619	T	-0.127404	0.61189	T	0.0134982564548392	0.00247	T	0.961704	0.85587	D	0.05939172	0.12065	0.1413768	0.33669	0.06742676	0.14600	0.12342586	0.29761	-6.068	0.47809	T	0.15679323834645156	0.18889	0.082	0.09433	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.518538	0.32539	19.07	0.98784902344472714	0.46190	0.37148	0.25696	N	AEFDBCI	0.224221	0.34847	N	0.0441907962732565	0.43876	2.672049	-0.0912094851581915	0.35752	2.072	0.999999967902569	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	1.095000	0.30575	.	.	0.584000	0.30380	0.344000	0.25709	0.998000	0.33993	0.419000	0.27206	0.0:1.0:0.0:0.0	15.989	0.79977	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002523	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.007576	0.05	2205.43	47	chr8	143924276	.	C	T	2205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.701;DP=606;ExcessHet=0;FS=0.562;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.743;SOR=0.769	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1113	9	0	1	0
chr8	143935300	143935300	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon7:c.G574A:p.D192N,PLEC:NM_201379:exon7:c.G550A:p.D184N,PLEC:NM_201380:exon7:c.G1027A:p.D343N,PLEC:NM_201381:exon7:c.G520A:p.D174N,PLEC:NM_201382:exon7:c.G616A:p.D206N,PLEC:NM_201383:exon7:c.G628A:p.D210N,PLEC:NM_201384:exon7:c.G616A:p.D206N,PLEC:NM_000445:exon8:c.G697A:p.D233N	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.751	0.670105219623	.	.	1.833e-05	0	0.0002	0	0	0	0	0	3.84e-05	1	26028	rs782145745	6.884e-06	9.577e-06	1.233e-05	1.383e-06	8.954e-05	3.48e-06	2.54e-06	2.987e-05	1.806e-05	0	8.954e-05	0	0	0	0	5.398e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.059	0.54683	T	0.064	0.45961	T	1.0	0.90584	D	0.932	0.70163	D	0.000237	0.47286	U	0.078523	1	0.81001	D	1.615	0.41426	L	-3.87	0.95922	D	-3.4	0.78222	D	0.728	0.74644	0.978	0.96830	D	0.892	0.96428	D	10	0.8891883	0.88257	D	0.670105	0.97246	D	0.751	0.91456	0.716	0.85141	0.765966819243	0.76383	0.5644064809462728	0.56367	.	.	0.617704987526	0.55404	T	0.617678	0.89312	D	-0.00633787	0.50778	T	-0.0492373	0.67075	D	0.898606061935425	0.55074	D	0.969903	0.89155	D	0.4722558	0.65429	0.3674723	0.62056	0.4722558	0.65430	0.3674723	0.62056	-9.443	0.71746	D	0.7163274659824871	0.79703	0.115	0.36947	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.523971	0.70963	25.6	0.99032791855913271	0.50830	0.97639	0.76082	D	AEFDGBCI	0.752797	0.69319	D	0.567599969305818	0.71161	5.608842	0.50484740344739	0.68314	5.203272	0.999999999999892	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.23	4.23	0.49319	5.951000	0.69992	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.0:1.0:0.0:0.0	15.547	0.75851	970	0.06235	.;.;.;.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;.;.;.;.;.;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	406.43	38	chr8	143935300	.	C	T	406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.384;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=1.26;SOR=0.752	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1285	9	0	1	0
chr8	143985613	143985613	C	T	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon3:c.G508A:p.G170S,PARP10:NM_032789:exon4:c.G472A:p.G158S	.	395	1112	15	0	0	15	0.00669942	.	.	.	750996	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.0246709375668	0.0005	0.00119808	0.0012	0.0001	0.0011	0	0	0.0006	0	0.0052	0.0010802	167	154602	rs146902781	0.0008	0.0008	0.0006	0.0009	0.0081	0.0007	0.0007	0.0063	0.0056	0.0003	0.0019	0.0003	2.519e-05	0	0.0081	0.0003	0.0015	0.0060	0.0009	0.0009	0.0007	0.0010	0.0068	0.0007	0.0007	0.0050	0.0044	4.812e-05	0	0.0039	0	0	0	0.0136	0.0005	0.0009	0.0068	0.892	0.03036	T	0.686	0.05995	T	0.779	0.44223	P	0.191	0.36391	B	0.016339	0.01438	N	2.496350	1	0.08975	N	1.04	0.26193	L	3.03	0.40218	T	0.13	0.09627	N	0.091	0.07398	-1.0163	0.24916	T	0.059	0.24908	T	10	0.00622499	0.00140	T	0.024671	0.47657	T	0.058	0.16647	.	.	0.470648230714	0.46691	0.4016270835265295	0.40078	0.190847562857	0.21398	0.417792081833	0.27534	T	0.00158	0.17514	T	-0.591125	0.00165	T	-0.62052	0.11145	T	0.0106959317258313	0.00150	T	0.49905	0.15971	T	0.02428221	0.01244	0.042435206	0.05052	0.02428221	0.01243	0.042435206	0.05051	-2.741	0.07654	T	.	.	0.096	0.21428	B	.;.;.;.;.;.	.;.;.;.;.;.	0.519427	0.08885	5.662	0.73515414462691253	0.10356	0.01182	0.04236	N	AEFDGBI	0.051616	0.09136	N	-0.905260616140806	0.10718	0.5135578	-1.04094916640309	0.08896	0.4397313	0.999992701025018	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	3.87	-2.17	0.06663	-1.003000	0.03792	.	.	-0.195000	0.09104	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.0:0.2467:0.5234:0.2299	5.710	0.17201	970	0.06235	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011581	0.000000	0.014946	0.014620	0.000000	0.025862	0.012195	0.003788	0.05	1271.43	39	chr8	143985613	.	C	T	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.08;DP=500;ExcessHet=0;FS=2.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.402;SOR=0.471	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1237	9	0	1	0
chr8	144040161	144040161	G	A	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_001134374:exon2:c.G464A:p.S155N,SPATC1:NM_198572:exon2:c.G464A:p.S155N	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0140488272469	0.0039	0.00139776	0.0036	0.0004	0.0024	0	0.0025	0.0057	0.0026	0.0004	0.0035187	544	154602	rs138478557	0.0044	0.0043	0.0045	0.0042	0.0051	0.0043	0.0042	0.0050	0.0050	0.0007	0.0028	0.0049	0	0.0019	0.0002	0.0051	0.0037	0.0004	0.0029	0.0029	0.0031	0.0027	0.0047	0.0027	0.0026	0.0043	0.0041	0.0009	0	0.0029	0.0029	0	0.0023	0	0.0047	0.0014	0.0004	0.096	0.51248	T	0.026	0.55759	D	0.011	0.15914	B	0.021	0.19346	B	0.535283	0.11594	N	0.791459	1	0.08975	N	1.4	0.35362	L	0.74	0.50459	T	-1.42	0.36189	N	0.244	0.32921	-0.9586	0.39442	T	0.138	0.45508	T	10	0.005864918	0.00131	T	0.014049	0.33902	T	0.084	0.24469	.	.	0.0551355673512	0.04727	0.2771659613188718	0.27629	0.0873643535745	0.09851	0.353264987469	0.18401	T	0.006547	0.05980	T	-0.579818	0.00193	T	-0.60331	0.12535	T	0.0243897799850208	0.01194	T	0.592541	0.21854	T	0.036454618	0.04487	0.1028841	0.24670	0.036454618	0.04487	0.1028841	0.24670	-5.163	0.39043	T	.	.	0.133	0.37615	B	.;.	.;.	1.061127	0.14430	11.00	0.97904975355033841	0.36773	0.08125	0.14092	N	AEFDBCI	0.075290	0.15115	N	-0.552097657439212	0.20418	1.076207	-0.720512267285111	0.16450	0.8702931	0.756420687459965	0.23441	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.9	-0.725	0.10610	0.569000	0.23342	.	.	0.676000	0.76740	0.006000	0.17386	0.000000	0.08366	0.028000	0.12845	0.1959:0.4867:0.3174:0.0	5.838	0.17875	970	0.06235	Speriolin, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.000000	0.05	1020.43	34	chr8	144040161	.	G	A	1020.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.629;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.066;SOR=0.622	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1032,0,1056	9	0	1	0
chr8	144040597	144040597	A	G	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_001134374:exon3:c.A796G:p.T266A,SPATC1:NM_198572:exon3:c.A796G:p.T266A	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.004351725389	.	.	2.612e-05	0	0	0	0	1.548e-05	0	0.0002	1.94e-05	3	154602	rs782249613	6.189e-06	6.156e-06	2.735e-06	9.682e-06	0.0002	2.91e-06	2.11e-06	1.597e-05	9.39e-06	0	0	0	0	0	0.0002	1.805e-06	3.33e-05	4.697e-05	6.723e-06	6.627e-06	1.312e-05	0	1.489e-05	0	0	.	.	0	0	0	0	0	0	0	1.489e-05	0	0	0.244	0.18371	T	0.5	0.32783	T	0.001	0.07471	B	0.001	0.04355	B	0.114655	0.02671	N	1.806350	1	0.08975	N	0.145	0.08828	N	1.06	0.39781	T	-0.77	0.31778	N	0.033	0.00882	-1.0584	0.12159	T	0.049	0.20711	T	10	0.044386327	0.03390	T	0.004352	0.10592	T	0.023	0.04649	0.175	0.08135	0.0138822411134	0.00435	0.09257857469958557	0.09189	0.0831203375119	0.09374	0.318312615156	0.13165	T	0.002462	0.01855	T	-0.514987	0.00470	T	-0.772013	0.02702	T	0.0240650727063856	0.01153	T	0.383762	0.09387	T	0.02265294	0.00943	0.027075144	0.00835	0.02265294	0.00943	0.027075144	0.00835	-3.524	0.16826	T	.	.	0.069	0.05579	B	.;.	.;.	-0.821286	0.01066	0.046	0.39002238053180566	0.02665	0.02144	0.06313	N	AEFDBCI	0.049144	0.08460	N	-1.50470490199936	0.01819	0.07971962	-1.57174768521791	0.01830	0.08338396	0.953671379533322	0.28087	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.56	-5.58	0.02313	-1.882000	0.01716	.	.	-0.872000	0.02536	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2533:0.1484:0.3082:0.2901	0.598	0.00691	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1961.43	34	chr8	144040597	.	A	G	1961.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=503;ExcessHet=0;FS=2.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.365;SOR=0.617	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr8	144085719	144085719	C	T	exonic	GPAA1	.	nonsynonymous SNV	GPAA1:NM_003801:exon11:c.C1598T:p.A533V	.	420	1101	1	0	0	1	0.000453926	.	.	.	1364741	Inborn_genetic_diseases|Glycosylphosphatidylinositol_biosynthesis_defect_15|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0060627,MedGen:C4540520,OMIM:617810,Orphanet:529665|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00281287235536	7.9e-05	0.000599042	0.0003	0	0	0	0	0.0002	0	0.0010	0.0002393	37	154602	rs200059746	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	2.987e-05	8.944e-05	0	7.557e-05	0	0.0019	8.723e-05	0.0002	0.0010	9.192e-05	9.186e-05	0.0001	5.371e-05	0.0004	5.523e-05	4.361e-05	9.05e-05	7.013e-05	0	0	6.533e-05	0	0	0	0	0.0002	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.011	0.15521	B	0.000335	0.45700	N	0.184288	0.981288	0.40923	D	0.875	0.21512	L	.	.	.	0.73	0.02068	N	0.259	0.29313	-1.0602	0.11706	T	0.102	0.37618	T	9	0.014271408	0.00300	T	0.002813	0.05869	T	0.039	0.10176	.	.	0.110078149338	0.10416	0.3200795618761911	0.31920	0.315891958324	0.33863	0.380843341351	0.22375	T	0.00891	0.08144	T	-0.507461	0.00519	T	-0.566464	0.15774	T	0.00634802052111484	0.00070	T	0.649735	0.26051	T	0.019581972	0.00492	0.047168788	0.06737	0.019581972	0.00491	0.047168788	0.06736	-3.931	0.29612	T	0.3074077714813498	0.40514	0.083	0.26106	B	.;.	.;.	0.966592	0.13432	9.942	0.13605475053740501	0.00274	0.91207	0.53070	D	AEFGBI	0.278261	0.39258	N	-0.908914335162708	0.10632	0.5090314	-0.852442998187837	0.13229	0.6851144	0.999971984456014	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.86	2.13	0.26445	1.249000	0.32441	0.739000	0.21146	-0.173000	0.11020	0.632000	0.28016	0.213000	0.23658	0.001000	0.02609	0.0:0.7388:0.0:0.2612	8.329	0.31334	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1631.43	36	chr8	144085719	.	C	T	1631.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.773;DP=468;ExcessHet=0;FS=7.225;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.761;SOR=0.891	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1253	9	0	1	0
chr8	144099773	144099773	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon4:c.G589A:p.V197I	.	428	1083	10	1	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00327893460144	0.0002	0.000998403	0.0015	0	0.0002	0	0	0.0002	0.0023	0.0096	0.0012031	186	154602	rs113734637	0.0006	0.0006	0.0004	0.0009	0.0089	0.0006	0.0006	0.0084	0.0082	5.974e-05	4.473e-05	3.826e-05	0	0	0.0024	0.0001	0.0004	0.0089	0.0004	0.0004	0.0004	0.0005	0.0106	0.0003	0.0003	0.0082	0.0074	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0106	0.265	0.16305	T	0.591	0.08189	T	0.002	0.09854	B	0.001	0.04355	B	0.139022	0.02870	N	1.731550	1	0.08975	N	-0.185	0.04235	N	1.98	0.21865	T	-0.48	0.15379	N	0.147	0.14905	-1.0406	0.17132	T	0.030	0.12935	T	10	0.008582443	0.00194	T	0.003279	0.07268	T	0.006	0.00375	.	.	0.0482279557977	0.04254	0.127868874853879	0.12711	0.125980353182	0.14199	0.303288936615	0.10892	T	0.042826	0.26306	T	-0.73257	0.00023	T	-0.818524	0.01483	T	0.0274239196232161	0.01605	T	0.381062	0.09207	T	0.0242122	0.01230	0.026055746	0.00677	0.0242122	0.01230	0.026055746	0.00676	-5.293	0.39874	T	.	.	0.068	0.02702	B	.	.	-2.354174	0.00045	0.001	0.62339489665253112	0.06937	0.03800	0.09130	N	AEFBCI	0.042797	0.06686	N	-2.01380295624049	0.00198	0.008466632	-2.08082253520812	0.00205	0.009032203	0.999999994859592	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.24	-8.48	0.00815	-2.672000	0.00915	-11.175000	0.00628	-2.537000	0.00251	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.546:0.2544:0.1996	9.288	0.36929	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	3632.12	109	chr8	144099773	.	C	T	3632.12	.	AC=2;AF=0.1;AN=20;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.32;SOR=1.743	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	9	1	0	0
chr8	144099806	144099806	C	T	exonic	SHARPIN	.	nonsynonymous SNV	SHARPIN:NM_030974:exon4:c.G556A:p.G186R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.268167489063	.	.	7.577e-05	0	0	0.0008	0	1.53e-05	0	6.073e-05	5.82e-05	9	154602	rs572750141	3.286e-05	3.283e-05	2.998e-05	3.578e-05	0.0008	2.545e-05	2.251e-05	0.0005	0.0005	0	0	0	0.0008	0	0.0002	8.993e-06	4.968e-05	4.637e-05	4.596e-05	4.593e-05	5.139e-05	4.029e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	1.47e-05	0	0	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.87	0.83286	M	-1.05	0.76690	T	-6.93	0.93404	D	0.955	0.96416	0.308	0.87692	D	0.612	0.86288	D	10	0.9588279	0.95270	D	0.268167	0.89774	D	0.724	0.90280	0.505	0.59924	0.79976659509	0.79789	0.7707743973223821	0.77026	0.73476935275	0.62922	0.509386897087	0.40136	T	0.671219	0.90243	D	0.0996324	0.64253	D	0.261716	0.86175	D	0.684639122625878	0.40001	D	0.865513	0.56452	D	0.5976972	0.72567	0.42783794	0.66516	0.5976972	0.72568	0.42783794	0.66517	-8.677	0.65596	D	.	.	0.515	0.65256	A	.	.	4.887360	0.80212	27.3	0.99922148766350494	0.98852	0.97887	0.77878	D	AEFDBCI	0.764992	0.70162	D	0.616049867820716	0.74188	6.090603	0.527156069712109	0.69826	5.415772	0.999999999993171	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.25	4.25	0.49658	3.573000	0.53600	7.561000	0.60481	0.599000	0.40250	0.294000	0.25270	1.000000	0.68203	0.895000	0.43227	0.0:1.0:0.0:0.0	14.19	0.65173	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	709.43	42	chr8	144099806	.	C	T	709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.481;DP=411;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-0.647;SOR=0.811	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1259	9	0	1	0
chr8	144108637	144108637	G	A	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon3:c.G571A:p.V191M	.	411	1095	15	1	0	17	0.00770276	.	.	.	2828666	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.0825571857173	.	0.000798722	0.0054	0	0.01	0	.	0.0032	0.0083	0.0064	0.0012096	187	154602	rs535489249	0.0055	0.0049	0.0053	0.0057	0.0136	0.0054	0.0053	0.0103	0.0091	0.0010	0.0038	0.0017	0	0.0034	0.0136	0.0068	0.0062	0.0057	0.0044	0.0044	0.0046	0.0042	0.0070	0.0041	0.0040	0.0065	0.0063	0.0010	0	0.0050	0.0037	0	0.0018	0.0102	0.0070	0.0076	0.0046	0.256	0.16793	T	0.194	0.28120	T	.	.	.	.	.	.	0.271357	0.03774	N	1.733240	1	0.08975	N	.	.	.	0.02	0.62318	T	-0.32	0.12283	N	0.06	0.03175	-1.0104	0.26791	T	0.138	0.45564	T	7	0.0051650107	0.00112	T	0.082557	0.73927	D	0.008	0.00669	.	.	0.188950314367	0.18478	0.7321916493934286	0.73164	.	.	.	.	.	0.00624	0.05676	T	-0.518778	0.00447	T	-0.513119	0.20995	T	0.0090757142752409	0.00114	T	0.512349	0.16405	T	0.060349323	0.12372	0.0776745	0.17324	0.060349323	0.12372	0.0776745	0.17324	-5.387	0.40794	T	.	.	0.128	0.27192	B	.	.	0.150319	0.05428	1.900	0.86042743283121192	0.16276	0.05277	0.11118	N	AEFDBCI	0.095452	0.19285	N	-0.711360346376261	0.15701	0.7936244	-0.901555472319581	0.12057	0.6180328	0.999999076928448	0.74766	0.422189	0.06491	0	0.514364	0.08380	0	0.607795	0.38427	0	0.691587	0.68394	0	.	.	3.35	-0.0384	0.13208	-0.998000	0.03812	1.418000	0.26339	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.023000	0.12082	0.2859:0.1827:0.5314:0.0	4.276	0.10255	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	753.43	39	chr8	144108637	.	G	A	753.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.645;DP=403;ExcessHet=0;FS=1.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=2.1;SOR=0.711	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,933	9	0	1	0
chr8	144112254	144112254	C	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon14:c.C2926G:p.L976V	.	412	1106	4	0	0	4	0.00180505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.501040461613	.	0.000798722	0.0020	0	0	0	0	0.0059	0	0.0004	0.0002975	46	154602	rs141421747	0.0009	0.0008	0.0010	0.0009	0.0228	0.0009	0.0008	0.0191	0.0177	0.0003	0.0007	0.0101	0	2.991e-05	0.0228	0.0004	0.0016	0.0003	0.0007	0.0007	0.0008	0.0007	0.0008	0.0006	0.0006	0.0005	0.0004	0.0002	0	0.0008	0.0150	0	0	0.0068	0.0005	0.0014	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	-0.56	0.71187	T	-0.48	0.15379	N	0.217	0.24260	-0.7293	0.58999	T	0.288	0.66007	T	6	0.008880794	0.00201	T	0.50104	0.95152	D	0.067	0.19503	.	.	0.280181792013	0.27631	0.22345629664438724	0.22260	.	.	.	.	.	0.018635	0.14986	T	-0.305125	0.08186	T	-0.322034	0.42350	T	0.10232158726604	0.12611	T	0.541746	0.18406	T	0.09086301	0.21275	0.14674753	0.34755	0.09086301	0.21274	0.14674753	0.34754	-4.721	0.33657	T	.	.	0.157	0.34689	B	.	.	1.863174	0.23667	16.11	0.98760119055797535	0.45800	0.19487	0.20680	N	AEFDGBI	0.110040	0.21835	N	-0.594174907770862	0.19120	0.9982414	-0.692640179703792	0.17144	0.9102916	0.991493738051271	0.32508	0.421363	0.06395	0	0.550933	0.16991	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.6	1.83	0.24279	-0.198000	0.09506	0.664000	0.20530	-0.257000	0.07002	0.000000	0.06391	0.203000	0.23585	0.001000	0.02609	0.0:0.683:0.0:0.317	6.062	0.19068	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	833.43	36	chr8	144112254	.	C	G	833.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.986;DP=385;ExcessHet=0;FS=3.262;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.472;SOR=1.143	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,932	9	0	1	0
chr8	144116210	144116210	C	T	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon24:c.C4786T:p.R1596C	.	394	1109	18	1	0	20	0.00893655	.	.	.	2828671	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.242	0.653527837348	.	0.000599042	0.0062	0	0	0	.	0.0065	0	0.0067	0.0011513	178	154602	rs528459469	0.0054	0.0050	0.0053	0.0055	0.0213	0.0053	0.0052	0.0176	0.0163	0.0008	0.0028	0.0022	0	0.0035	0.0213	0.0067	0.0061	0.0050	0.0041	0.0041	0.0042	0.0039	0.0066	0.0038	0.0037	0.0061	0.0059	0.0009	0	0.0036	0.0043	0	0.0018	0.0136	0.0066	0.0062	0.0046	0.0	0.91255	D	0.0	0.92824	D	0.957	0.54824	D	0.105	0.31087	B	.	.	.	.	0.999991	0.08975	N	.	.	.	-1.33	0.79854	T	-1.81	0.42575	N	0.239	0.26957	-0.6446	0.62948	T	0.268	0.63939	T	8	0.007150501	0.00162	T	0.653528	0.97073	D	0.242	0.54781	.	.	0.705321725469	0.70276	0.5485109752252756	0.54777	.	.	0.551005840302	0.45999	T	0.032182	0.22374	T	-0.323907	0.06583	T	-0.2332	0.51461	T	0.0584939045216909	0.06929	T	0.723828	0.33737	T	0.14804423	0.33816	0.12173561	0.29370	0.14804423	0.33816	0.12173561	0.29369	-4.976	0.36579	T	.	.	0.210	0.43815	B	.	.	4.016568	0.59292	24.1	0.99811139402551197	0.89531	0.09664	0.15369	N	AEFDBHI	0.102730	0.20599	N	-0.180524585394752	0.33947	1.931791	-0.269848692089949	0.29097	1.627477	0.999224767265235	0.38808	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.46	4.46	0.53567	3.465000	0.52828	1.615000	0.27656	0.597000	0.34315	0.508000	0.27017	0.032000	0.21310	0.001000	0.02609	0.0:0.8959:0.0:0.1041	9.082	0.35720	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	510.43	35	chr8	144116210	.	C	T	510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.16;DP=351;ExcessHet=0;FS=1.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.67;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,969	9	0	1	0
chr8	144242439	144242439	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon22:c.G2249A:p.R750Q,MROH1:NM_032450:exon23:c.G2249A:p.R750Q	.	351	1170	1	0	0	1	0.000427168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0201114918104	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438420410	6.366e-05	6.361e-05	4.894e-05	7.596e-05	0.0003	4.796e-05	4.222e-05	0.0002	0.0002	0	0	0	0	0	0	2.859e-05	0.0002	0.0003	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.566	0.06957	T	0.482	0.11829	T	0.005	0.12996	B	0.001	0.04355	B	0.570738	0.11241	N	0.779066	1	0.28026	N	-0.59	0.02258	N	-0.27	0.68616	T	0.66	0.02297	N	0.069	0.08646	-1.0365	0.18388	T	0.104	0.38144	T	10	0.060748607	0.07510	T	0.020111	0.42635	T	0.067	0.19503	0.428	0.47515	0.0934897674506	0.08844	0.14719748569554453	0.14641	0.248058895731	0.27363	0.214972689748	0.01040	T	0.009756	0.08861	T	-0.213094	0.18945	T	-0.543871	0.17918	T	0.175988093018532	0.18978	T	0.816918	0.47330	T	0.050782643	0.09228	0.06674157	0.13714	0.050782643	0.09227	0.06674157	0.13714	-7.885	0.60284	D	.	.	0.064	0.01668	B	.;.;.	.;.;.	-0.511297	0.01831	0.145	0.94400198073929764	0.24788	0.01107	0.04054	N	AEFI	0.029039	0.02668	N	-1.24677708073421	0.04342	0.1957912	-1.25761629799674	0.05019	0.2381764	3.93051906095687E-5	0.03775	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.64	-3.81	0.04013	-0.066000	0.11556	-1.916000	0.04501	-0.244000	0.07312	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.7834:0.0:0.2166:0.0	12.489	0.55228	929	0.16858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	766.43	33	chr8	144242439	.	G	A	766.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.228;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.941;SOR=0.668	GT:AD:DP:GQ:PL	0/1:31,33:64:99:778,0,710	9	0	1	0
chr8	144264550	144264550	G	A	exonic	BOP1	.	nonsynonymous SNV	BOP1:NM_015201:exon6:c.C730T:p.R244C	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.173160585058	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1038755860	0.0007	0.0007	0.0008	0.0007	0.0245	0.0007	0.0007	0.0232	0.0227	0	0.0001	0	0.0245	0	0	3.69e-05	0.0004	0.0002	0.0006	0.0006	0.0006	0.0007	0.0176	0.0005	0.0005	0.0146	0.0136	2.408e-05	0	0.0001	0	0.0176	0	0	1.47e-05	0	0.0002	0.003	0.78490	D	0.002	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	0.6	0.53731	T	-7.6	0.95336	D	0.555	0.58031	-0.4101	0.71707	T	0.211	0.57081	T	6	0.17943081	0.33076	T	0.292348	0.90607	D	.	.	.	.	0.631295417935	0.62827	0.5577151766136547	0.55698	.	.	0.884834170341	0.94602	D	0.594635	0.86920	D	0.0796289	0.61998	D	-0.123395	0.61524	T	0.999435722827911	0.97390	D	.	.	.	0.82118064	0.85300	0.63739085	0.78825	0.82118064	0.85301	0.63739085	0.78826	-12.775	0.88414	D	.	.	0.468	0.63085	A	.;.	.;.	5.913737	0.94044	33	0.99930112038364494	0.99334	0.92668	0.56256	D	AEFGI	0.763913	0.70086	D	0.234543737399796	0.52878	3.460	0.243472012857623	0.52278	3.403794	0.994804094855626	0.33809	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.26	3.26	0.36471	2.817000	0.47733	11.624000	0.93645	0.662000	0.56354	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.409	0.54789	946	0.12043	BOP1, N-terminal domain|BOP1, N-terminal domain;BOP1, N-terminal domain|BOP1, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1907.43	33	chr8	144264550	.	G	A	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.32;DP=484;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.171;SOR=0.807	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1357	9	0	1	0
chr8	144314036	144314036	A	G	exonic	HSF1	.	nonsynonymous SNV	HSF1:NM_005526:exon12:c.A1366G:p.N456D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0122130720883	7.7e-05	0.000599042	6.845e-05	0.0007	8.832e-05	0	0	0	0	0	7.12e-05	11	154602	rs201606037	2.329e-05	2.326e-05	2.59e-05	2.065e-05	0.0007	1.676e-05	1.479e-05	0.0005	0.0004	0.0007	4.474e-05	0	0	0	0.0002	0	0.0001	0	0.0001	0.0002	0.0001	0.0002	0.0005	8.899e-05	7.446e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.243	0.17526	T	0.105	0.38016	T	0.003	0.11197	B	0.021	0.19346	B	0.794884	0.09368	N	0.903470	0.959205	0.26195	N	1.245	0.31408	L	.	.	.	-0.99	0.26200	N	0.136	0.16028	-1.0093	0.27136	T	0.063	0.26065	T	9	0.0134727955	0.00286	T	0.012213	0.30578	T	0.017	0.02790	.	.	0.381939241115	0.37810	0.0667948740794511	0.06617	0.047038309093	0.05119	0.583990693092	0.50648	T	0.021361	0.40517	T	-0.503078	0.00549	T	-0.578445	0.14684	T	0.0186497860394193	0.00579	T	.	.	.	0.08968864	0.20964	0.16436549	0.38079	0.08968864	0.20964	0.16436549	0.38078	-2.73	0.07558	T	.	.	0.101	0.17360	B	.;.	.;.	1.545729	0.19817	14.45	0.76877087679753742	0.11645	0.21890	0.21560	N	AEFDGBHCI	0.062062	0.11907	N	-0.794443095766378	0.13453	0.6628905	-0.720572800647947	0.16449	0.8702072	0.999999999999326	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.645665	0.59343	0	.	.	4.04	2.82	0.32061	0.574000	0.23416	2.675000	0.33975	0.743000	0.86499	0.113000	0.23048	0.945000	0.28875	0.742000	0.35507	0.8085:0.1915:0.0:0.0	8.762	0.33840	940	0.13648	.;Vertebrate heat shock transcription factor, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	598.43	33	chr8	144314036	.	A	G	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.39;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.54;SOR=0.773	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,882	9	0	1	0
chr8	144317564	144317564	C	T	exonic	DGAT1	.	nonsynonymous SNV	DGAT1:NM_012079:exon12:c.G961A:p.E321K	.	412	1107	3	0	0	3	0.00135318	.	.	.	1496977	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.829	0.279053805273	.	.	0.0002	0	0.0015	0	0	1.501e-05	0.0022	0	0.0001294	20	154602	rs782473207	3.421e-05	3.42e-05	3.268e-05	3.576e-05	0.0010	2.632e-05	2.375e-05	0.0008	0.0007	0	0.0010	0	0	0	0.0002	1.799e-06	4.968e-05	0	1.315e-05	1.314e-05	2.57e-05	0	0.0001	2.19e-06	8.2e-07	2.264e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	0.005	0.72224	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.345	0.91022	M	.	.	.	.	.	.	0.888	0.88687	0.331	0.88037	D	0.587	0.85176	D	10	0.7060068	0.72742	D	0.279054	0.90164	D	.	.	0.674	0.81200	0.576245406411	0.57293	0.828360222609323	0.82794	.	.	0.717919409275	0.69744	T	0.634444	0.88712	D	0.17101	0.71217	D	0.409489	0.92415	D	0.662914395332336	0.39024	D	.	.	.	0.55302376	0.70124	0.34580886	0.60258	0.5980379	0.72587	0.37414548	0.62586	-12.216	0.85887	D	.	.	0.986	0.92555	P	.	.	5.291676	0.88845	29.8	0.99930530220529057	0.99334	0.99307	0.94267	D	AEFDGBHCI	0.803446	0.72858	D	0.774207482580139	0.84469	8.296566	0.690832719841779	0.81681	7.584188	0.999999999999999	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.27	5.27	0.73797	4.165000	0.57984	7.390000	0.58507	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	16.376	0.83226	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2335.43	37	chr8	144317564	.	C	T	2335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=503;ExcessHet=0;FS=11.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.404;SOR=0.681	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1238	9	0	1	0
chr8	144358204	144358204	T	C	exonic	FBXL6	.	nonsynonymous SNV	FBXL6:NM_012162:exon1:c.A244G:p.K82E,FBXL6:NM_024555:exon1:c.A244G:p.K82E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00967724603715	.	0.00139776	0	0	0	0	0	0	0	0	4.53e-05	7	154602	rs528243989	7.818e-05	7.114e-05	7.726e-05	7.919e-05	0.0036	6.465e-05	5.956e-05	0.0022	0.0018	0.0022	0	0	0	0	0.0036	3.246e-06	0.0003	0.0001	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.589e-05	0	0	0	0	0	0.0005	0	0.504	0.07645	T	0.103	0.38305	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.0	0.21473	T	-0.82	0.22508	N	0.068	0.04426	-0.9638	0.38448	T	0.020	0.08266	T	9	0.004159689	0.00082	T	0.009677	0.25290	T	0.020	0.03691	0.348	0.34436	0.154104182512	0.14974	0.20738286915812407	0.20654	0.991916828905	0.74105	0.794398665428	0.81111	T	.	.	.	-0.576642	0.00202	T	-0.665837	0.07878	T	0.00591627465073011	0.00065	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.28807	B	.;.	.;.	0.731114	0.11002	7.663	0.62999774059893854	0.07108	0.00643	0.02809	N	ALL	0.052560	0.09393	N	-1.28721953977568	0.03828	0.1717254	-1.30491587316791	0.04366	0.2057878	0.999999992885979	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.249971	0.05119	0	.	.	3.77	-0.929	0.09913	-0.236000	0.09019	0.087000	0.14465	0.637000	0.52028	0.018000	0.19461	0.023000	0.20922	0.069000	0.16583	0.0:0.1818:0.4327:0.3855	3.547	0.07387	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001750	0.000000	0.001832	0.006369	0.000000	0.000000	0.000000	0.000000	0.05	542.43	36	chr8	144358204	.	T	C	542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.804;DP=346;ExcessHet=0;FS=1.368;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.959;SOR=0.455	GT:AD:DP:GQ:PL	0/0:33,0:33:87:0,87,1045	9	0	1	0
chr8	144396636	144396636	G	A	exonic	CPSF1	.	nonsynonymous SNV	CPSF1:NM_013291:exon25:c.C2788T:p.R930C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0130822269914	.	.	.	.	.	.	.	.	.	.	.	.	.	rs968746867	8.896e-06	9.577e-06	1.089e-05	6.878e-06	1.16e-05	4.96e-06	3.83e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.893e-06	1.656e-05	1.16e-05	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.013	0.63109	D	0.183	0.29179	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	.	.	.	.	.	.	0.81	0.80572	-0.9578	0.39589	T	0.139	0.45753	T	10	0.7281828	0.74116	D	0.013082	0.32199	T	.	.	0.578	0.70347	0.669087604336	0.66629	0.6794547155092943	0.67884	.	.	0.871421337128	0.92771	D	0.327688	0.69817	T	0.335748	0.85549	D	0.259988	0.86091	D	0.772838234901428	0.44610	D	.	.	.	0.4351175	0.63087	0.13668132	0.32691	0.4351175	0.63087	0.13668132	0.32690	-8.366	0.63538	D	.	.	0.236	0.49893	B	.;.	.;.	4.727678	0.76118	26.5	0.99798398027816082	0.88372	0.93046	0.57190	D	AEFBCI	0.497501	0.53199	N	0.0948572691613817	0.46223	2.865995	0.222638109315505	0.51105	3.296058	0.389666171682119	0.20035	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	4.220000	0.58364	9.748000	0.81461	0.616000	0.49467	0.995000	0.38783	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	14.718	0.68899	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1509.43	37	chr8	144396636	.	G	A	1509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=461;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.283;SOR=0.592	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1521,0,1113	9	0	1	0
chr8	144409082	144409082	C	T	exonic	CPSF1	.	nonsynonymous SNV	CPSF1:NM_013291:exon2:c.G77A:p.S26N	.	.	.	.	.	.	.	.	.	.	.	3651260	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00839843074661	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs375744067	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0003	7.09e-06	5.79e-06	0.0001	0.0001	0.0003	0	0	0	0	0.0002	0	6.625e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.045927	0.23488	N	0.427306	0.981194	0.25057	N	0.625	0.15840	N	.	.	.	.	.	.	0.183	0.19861	-1.0631	0.10997	T	0.072	0.29291	T	10	0.10300043	0.18909	T	0.008398	0.22231	T	.	.	0.362	0.36711	0.572930072401	0.56960	0.1384198834127697	0.13764	.	.	0.75037753582	0.74502	T	0.045617	0.27178	T	-0.207502	0.19734	T	-0.535839	0.18707	T	0.344617873430252	0.26807	T	.	.	.	0.23305754	0.46104	0.25297877	0.50937	0.23305754	0.46104	0.25297877	0.50936	-3.089	0.11170	T	.	.	0.095	0.14933	B	.;.	.;.	2.478208	0.31950	18.90	0.95441684923913417	0.26948	0.31068	0.24244	N	ALL	0.092896	0.18801	N	-0.226666685649934	0.32042	1.802958	-0.03491002177762	0.38149	2.243565	0.99999999992452	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.18	4.29	0.50359	1.525000	0.35560	1.720000	0.28254	0.577000	0.29297	0.997000	0.40164	1.000000	0.68203	0.997000	0.79791	0.0:0.6558:0.3442:0.0	11.008	0.46862	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2398.43	51	chr8	144409082	.	C	T	2398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.13;DP=629;ExcessHet=0;FS=2.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.659;SOR=0.873	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,108,1620	9	0	1	0
chr8	144473381	144473381	C	T	exonic	KIFC2	.	nonsynonymous SNV	KIFC2:NM_001369769:exon18:c.C2368T:p.P790S	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	.	3.476e-05	0	0	0	0	6.93e-05	0	0	6.5e-06	1	154602	rs754575603	5.474e-05	5.814e-05	5.431e-05	5.517e-05	6.92e-05	4.456e-05	4.121e-05	5.667e-05	5.173e-05	0	0	0	0	0	0	6.92e-05	1.69e-05	1.22e-05	3.286e-05	3.283e-05	5.137e-05	1.346e-05	7.35e-05	1.261e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10795486	0.20075	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29797	0.05545	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01934	B	.	.	2.743638	0.35944	20.1	0.96185135912251263	0.28972	0.12387	0.17237	N	AEFDBCI	0.010935	0.00087	N	-0.557940700743937	0.20236	1.065247	-0.723984665413136	0.16364	0.8653238	0.999969472676379	0.48965	0.676563	0.55306	0	0.958517	0.99986	0	0.52208	0.10781	0	0.600526	0.37237	0	.	.	3.48	1.64	0.22949	-0.675000	0.05327	2.268000	0.31810	0.549000	0.26987	0.000000	0.06391	0.288000	0.24148	0.073000	0.16832	0.0:0.7137:0.1799:0.1064	6.809	0.22978	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1619.43	33	chr8	144473381	.	C	T	1619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.985;DP=427;ExcessHet=0;FS=5.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.3;SOR=0.341	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr8	144500889	144500889	C	A	exonic	PPP1R16A	.	nonsynonymous SNV	PPP1R16A:NM_001329443:exon10:c.C955A:p.H319N,PPP1R16A:NM_001329444:exon10:c.C955A:p.H319N,PPP1R16A:NM_001329445:exon10:c.C955A:p.H319N,PPP1R16A:NM_001329442:exon11:c.C955A:p.H319N,PPP1R16A:NM_032902:exon11:c.C955A:p.H319N	.	.	.	.	.	.	.	.	.	.	.	2271091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.199	0.100545148805	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1006585311	7.147e-06	1.026e-05	1.413e-06	1.302e-05	0.0002	3.61e-06	2.64e-06	1.076e-05	4.02e-06	6.498e-05	0	0	0	0	0.0002	0	0.0001	1.256e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.27544	T	0.157	0.31730	T	0.014	0.16867	B	0.017	0.18140	B	0.000804	0.41658	D	0.207799	0.999981	0.54805	D	2.42	0.70002	M	-0.55	0.71068	T	-3.25	0.65283	D	0.359	0.40063	-0.6340	0.63401	T	0.302	0.67316	T	10	0.30752957	0.48255	T	0.100545	0.77289	D	0.199	0.48268	0.379	0.39482	0.738192863371	0.73584	0.47963244723428466	0.47883	0.15316533821	0.17281	0.894567370415	0.95816	D	0.256834	0.62779	T	0.00515059	0.52363	T	-0.230378	0.51736	T	0.739685416221619	0.42720	D	0.912209	0.68770	D	0.3253546	0.55087	0.26342782	0.52148	0.3253546	0.55087	0.26342782	0.52147	-5.852	0.45025	T	.	.	0.134	0.29004	B	.;.	.;.	4.067403	0.60402	24.2	0.98613915336700719	0.43677	0.94153	0.60273	D	AEFDGBCIJ	0.492675	0.52921	N	-0.118727641593657	0.36577	2.116152	0.0157014107499711	0.40442	2.413694	1.0	0.98316	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.603991	0.37454	0	.	.	4.94	4.94	0.64645	2.391000	0.44078	5.827000	0.50131	0.585000	0.30472	0.996000	0.39380	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	15.647	0.76815	906	0.23090	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	474.43	35	chr8	144500889	.	C	A	474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.277;DP=348;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.83;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1324	9	0	1	0
chr8	144512897	144512897	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon15:c.G2705A:p.R902Q	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	138881	Baller-Gerold_syndrome|not_provided|not_specified	MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0649140824228	0.0002	0.000399361	0.0001	0.0005	0	0.0003	0.0004	3.559e-05	0	9.936e-05	7.76e-05	12	154602	rs372205013	2.503e-05	3.078e-05	2.207e-05	2.803e-05	0.0002	1.832e-05	1.626e-05	5.91e-05	4.17e-05	0.0002	0.0001	0	5.181e-05	0	0.0002	1.272e-05	0	0.0001	0.0001	0.0001	0.0001	0.0002	0.0004	9.734e-05	8.25e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	2.939e-05	0	0.0002	.	.	.	0.109	0.37449	T	0.905	0.49920	P	0.368	0.43478	B	.	.	.	.	.	.	.	2.79	0.81396	M	.	.	.	.	.	.	0.478	0.51315	.	.	.	.	.	.	.	0.19498599	0.35332	T	0.064914	0.69421	D	.	.	.	.	0.753342104082	0.75110	0.4951499380592641	0.49435	.	.	0.406314849854	0.25946	T	0.028988	0.33064	T	-0.134618	0.30750	T	-0.136311	0.60437	T	.	.	.	0.930507	0.74278	D	0.065425344	0.13980	0.12046909	0.29072	0.065425344	0.13979	0.12046909	0.29071	-4.15	0.26024	T	0.3427440927790864	0.44040	0.103	0.18456	B	.;.	.;.	3.331313	0.45857	22.2	0.81398510251505096	0.13666	0.95677	0.65689	D	AEFGBCI	0.699757	0.65700	D	.	.	.	.	.	.	0.999999999627051	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	4.93	4.03	0.46115	2.812000	0.47693	2.769000	0.34658	-0.136000	0.12710	0.031000	0.20493	0.993000	0.31925	0.007000	0.07825	0.1874:0.8126:0.0:0.0	12.123	0.53201	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2422.43	63	chr8	144512897	.	C	T	2422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=750;ExcessHet=0;FS=3.318;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.223;SOR=0.616	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	9	0	1	0
chr8	144515769	144515769	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon6:c.G1253A:p.R418Q	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	834450	Inborn_genetic_diseases|Rothmund-Thomson_syndrome_type_2|Baller-Gerold_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	0.00371905356605	.	.	4.34e-05	0.0002	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs548957135	2.603e-05	2.599e-05	2.181e-05	3.03e-05	0.0002	1.935e-05	1.694e-05	0.0001	8.66e-05	5.975e-05	2.241e-05	0	2.52e-05	0	0.0002	9.896e-06	0.0001	0.0002	3.943e-05	4.597e-05	6.423e-05	1.345e-05	0.0004	1.716e-05	1.13e-05	7.287e-05	3.028e-05	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	.	.	.	0.645	0.06859	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.15046	.	.	.	.	.	.	.	0.056910813	0.06453	T	0.003719	0.08620	T	.	.	.	.	0.738890521019	0.73655	0.19984213987774022	0.19901	.	.	0.241066366434	0.02887	T	0.003439	0.10790	T	-0.412577	0.01911	T	-0.55098	0.17232	T	.	.	.	0.256274	0.04684	T	0.025363065	0.01466	0.04909124	0.07429	0.0270675	0.01847	0.03750387	0.03416	-2.012	0.03226	T	0.035299970979044165	0.00189	0.06	0.00934	B	.;.	.;.	0.067868	0.04772	1.389	0.53187184362117246	0.04891	0.01964	0.05955	N	AEFGBCI	0.045077	0.07332	N	.	.	.	.	.	.	0.999997527615445	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.330827	0.05736	0	.	.	5.46	0.281	0.14938	0.258000	0.18156	-0.177000	0.11169	-1.457000	0.01087	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1852:0.3452:0.0:0.4696	3.185	0.06203	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1992.43	34	chr8	144515769	.	C	T	1992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.61;DP=903;ExcessHet=0;FS=0.609;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.988;SOR=0.79	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	9	0	1	0
chr8	144515784	144515784	G	C	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon6:c.C1238G:p.A413G	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	751036	Inborn_genetic_diseases|Hereditary_cancer-predisposing_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	0.00376231261731	.	0.000599042	0.0009	0	0.0003	0	0	0.0004	0	0.0050	0.0007115	110	154602	rs560681030	0.0005	0.0005	0.0003	0.0007	0.0052	0.0005	0.0004	0.0048	0.0047	5.976e-05	0.0004	0.0015	2.52e-05	0	0.0021	0.0001	0.0007	0.0052	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	2.405e-05	0	0.0003	0.0009	0	0	0	0.0002	0	0.0039	.	.	.	0.032	0.55759	D	0.791	0.44643	P	0.434	0.45506	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.18103	.	.	.	.	.	.	.	0.0048629344	0.00104	T	0.003762	0.08744	T	.	.	.	.	0.411799315854	0.40795	0.46254533390117736	0.46173	.	.	0.234652489424	0.02330	T	0.081395	0.70415	T	-0.344232	0.05100	T	-0.266151	0.48209	T	.	.	.	0.668433	0.27879	T	0.07137055	0.15795	0.248593	0.50413	0.08211168	0.18901	0.21163541	0.45599	-9.872	0.73142	D	0.3019037339231921	0.39931	0.101	0.20702	B	.;.	.;.	1.849762	0.23498	16.04	0.57079378397280234	0.05690	0.20774	0.21164	N	AEFGBCI	0.092193	0.18668	N	.	.	.	.	.	.	0.999999041765836	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.330827	0.05736	0	.	.	5.46	2.56	0.29842	0.405000	0.20738	2.817000	0.34941	0.676000	0.76740	0.110000	0.22992	0.998000	0.33993	0.027000	0.12703	0.0803:0.1426:0.6295:0.1476	5.344	0.15305	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002016	0.000000	0.001359	0.002941	0.000000	0.000000	0.003049	0.003788	0.05	3853.43	34	chr8	144515784	.	G	C	3853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.423;DP=893;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=-0.692;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:79:99:.:.:0,120,1800:.	9	0	1	0
chr8	144515785	144515785	C	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon6:c.G1237A:p.A413T	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	692466	Hereditary_cancer-predisposing_syndrome|not_provided|Baller-Gerold_syndrome|Inborn_genetic_diseases	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	0.00648854851518	.	0.000599042	0.0009	0	0.0003	0	0	0.0004	0	0.0050	0.0007115	110	154602	rs531310005	0.0005	0.0005	0.0003	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	5.976e-05	0.0004	0.0015	2.52e-05	0	0.0021	0.0001	0.0007	0.0052	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	2.407e-05	0	0.0003	0.0009	0	0	0	0.0002	0	0.0039	.	.	.	0.013	0.65728	D	0.93	0.51791	P	0.558	0.49494	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.11912	.	.	.	.	.	.	.	0.0050106645	0.00108	T	0.006489	0.17100	T	.	.	.	.	0.401612077098	0.39776	0.5184851900649258	0.51771	.	.	0.235469758511	0.02397	T	0.069059	0.61391	T	-0.342859	0.05193	T	-0.264179	0.48407	T	.	.	.	0.712529	0.32570	T	0.024286142	0.01246	0.150959	0.35580	0.027875818	0.02041	0.12430759	0.29964	-7.222	0.55639	T	0.5196322605130426	0.59211	0.087	0.11414	B	.;.	.;.	1.664343	0.21222	15.11	0.6261023998070181	0.07007	0.54679	0.29675	D	AEFGBCI	0.120607	0.23487	N	.	.	.	.	.	.	0.999999841978051	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.330827	0.05736	0	.	.	5.46	3.65	0.40985	1.044000	0.29939	1.190000	0.24759	0.599000	0.40250	0.359000	0.25834	0.999000	0.35428	0.029000	0.12982	0.1557:0.7617:0.0:0.0826	8.328	0.31330	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002520	0.000000	0.001359	0.002941	0.000000	0.008772	0.003049	0.003788	0.05	3853.43	34	chr8	144515785	.	C	T	3853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=894;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=-0.615;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:79,0:79:99:.:.:0,120,1800:.	9	0	1	0
chr8	144522713	144522713	G	T	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon5:c.C1304A:p.A435E	.	.	.	.	.	.	.	.	.	.	.	2271071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.158410545846	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs534786173	7.623e-06	1.436e-05	2.754e-06	1.256e-05	0.0002	4.09e-06	2.99e-06	2.46e-05	1.282e-05	9.286e-05	0	0	0	0	0.0002	0	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02181	T	0.454	0.12812	T	0.06	0.25639	B	0.009	0.23121	B	0.486182	0.12109	N	0.773601	0.999981	0.18198	N	1.185	0.30054	L	0.71	0.54347	T	-1.06	0.27669	N	0.32	0.36043	-1.0015	0.29488	T	0.048	0.20315	T	10	0.04996085	0.04661	T	0.158411	0.83881	D	0.056	0.15993	0.304	0.27325	0.556470843481	0.55307	0.29890413137368577	0.29803	0.379533088141	0.39342	0.790273785591	0.80484	T	0.006298	0.05736	T	-0.165714	0.25885	T	-0.475813	0.24892	T	0.0672820251195402	0.08264	T	0.484852	0.14769	T	0.074253775	0.16649	0.12433727	0.29972	0.074253775	0.16649	0.12433727	0.29971	-5.267	0.39615	T	.	.	0.074	0.06710	B	.;.	.;.	1.055526	0.14367	10.95	0.66618721296481953	0.08112	0.33735	0.24900	N	ALL	0.106441	0.21238	N	-1.4832920669218	0.01968	0.08640472	-1.4974792555297	0.02365	0.1086572	0.999999999999654	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.92	-3.89	0.03916	0.164000	0.16359	0.311000	0.17083	0.673000	0.70640	0.054000	0.21560	0.000000	0.08366	0.665000	0.33109	0.1532:0.115:0.2688:0.463	2.321	0.03953	881	0.29269	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1209.43	33	chr8	144522713	.	G	T	1209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.523;DP=437;ExcessHet=0;FS=2.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-1.177;SOR=0.468	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1111	9	0	1	0
chr8	144524560	144524560	T	G	exonic	LRRC24	.	nonsynonymous SNV	LRRC24:NM_001024678:exon3:c.A319C:p.S107R	.	444	1073	5	0	0	5	0.0023245	.	.	.	2343239	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0224828862843	.	0.000199681	0.0003	0	0.0007	0	0	0.0005	0	0	0.0001552	24	154602	rs201975035	0.0002	0.0002	0.0002	0.0002	0.0058	0.0002	0.0002	0.0042	0.0036	0.0004	0.0005	0	0	0	0.0058	0.0002	0.0006	5.997e-05	0.0005	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	0.0003	0.0002	0	0.0384	0.0003	0	0	0	0.0308	0.0004	0.0014	0	0.093	0.31532	T	0.155	0.31936	T	0.0	0.02946	B	0.0	0.01387	B	0.001538	0.38731	N	0.248368	0.976769	0.39305	D	0.56	0.15190	N	0.39	0.57419	T	-0.51	0.15986	N	0.154	0.17553	-1.0528	0.13628	T	0.087	0.33718	T	10	0.0072493255	0.00165	T	0.022483	0.45373	T	0.062	0.17934	0.384	0.40298	0.0934897674506	0.08844	0.6218062595576144	0.62113	0.364172412179	0.38030	0.65098708868	0.60125	T	0.005167	0.04614	T	-0.449089	0.01144	T	-0.548712	0.17449	T	0.0144326281079404	0.00291	T	0.615438	0.27458	T	0.03618842	0.04403	0.053887825	0.09165	0.03618842	0.04402	0.053887825	0.09164	-4.756	0.34074	T	.	.	0.231	0.46424	B	.;.	.;.	1.283922	0.16839	12.80	0.97669223099568125	0.35247	0.19356	0.20629	N	AEFDBHCI	0.124992	0.24131	N	-0.951628655298544	0.09656	0.4579557	-0.916212760439125	0.11712	0.5983369	0.999999928758471	0.74766	0.77792	0.99625	0	0.516746	0.08562	0	0.854111	0.99894	0	0.599892	0.37169	0	.	.	4.54	1.55	0.22356	-0.095000	0.11043	0.305000	0.17021	-0.218000	0.08083	0.000000	0.06391	0.011000	0.20116	0.900000	0.43643	0.0:0.612:0.1757:0.2123	5.812	0.17734	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008403	0.000000	0.010929	0.014388	0.000000	0.035714	0.003145	0.000000	0.05	476.43	33	chr8	144524560	.	T	G	476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.09;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-1.647;SOR=0.668	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,836	9	0	1	0
chr8	144547482	144547482	G	C	exonic	ARHGAP39	.	nonsynonymous SNV	ARHGAP39:NM_025251:exon4:c.C1604G:p.P535R,ARHGAP39:NM_001308208:exon5:c.C1604G:p.P535R,ARHGAP39:NM_001308207:exon6:c.C1604G:p.P535R	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0348792482317	.	0.000798722	0.0005	0.0065	0	0	0	0	0.0049	0	0.0002135	33	154602	rs567204289	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	0.0001	0.0028	0.0026	0.0033	5.41e-05	0	7.999e-05	0	0.0026	2.881e-05	0.0003	0	0.0009	0.0009	0.0009	0.0008	0.0031	0.0007	0.0007	0.0026	0.0025	0.0031	0	6.533e-05	0	0	0	0.0034	4.41e-05	0	0	0.043	0.41364	D	0.118	0.36365	T	0.29	0.32311	B	0.202	0.36942	B	0.233792	0.15861	N	0.604741	1	0.08975	N	1.61	0.41143	L	-0.03	0.67712	T	-1.33	0.33197	N	0.457	0.49420	-0.9703	0.37136	T	0.150	0.47752	T	10	0.005754441	0.00128	T	0.034879	0.55972	D	0.049	0.13647	0.224	0.14813	0.397391247328	0.39351	0.22526005428046028	0.22441	0.824740435102	0.67333	0.59525257349	0.52234	T	0.046575	0.27464	T	-0.430617	0.01470	T	-0.391848	0.34335	T	0.0156328802776171	0.00358	T	0.721228	0.33447	T	0.046241224	0.07707	0.073670395	0.16034	0.046241224	0.07707	0.073670395	0.16034	-4.289	0.28858	T	.	.	0.083	0.09191	B	.;.	.;.	0.742393	0.11117	7.764	0.33694116844043576	0.02021	0.17328	0.19789	N	AEFDBI	0.155817	0.28107	N	-0.851895988068323	0.12003	0.5824987	-0.89854470056914	0.12128	0.6220885	0.227671626752123	0.18429	0.653496	0.48692	0	0.547309	0.14657	0	0.596874	0.31795	0	0.604944	0.38103	0	.	.	5.12	0.874	0.18260	0.422000	0.21016	2.608000	0.33560	0.676000	0.76740	0.199000	0.24297	0.998000	0.33993	0.001000	0.02609	0.0936:0.0:0.2988:0.6076	7.008	0.24026	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002567	0.000000	0.001374	0.008824	0.000000	0.000000	0.003165	0.000000	0.05	597.43	36	chr8	144547482	.	G	C	597.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.484;DP=404;ExcessHet=0;FS=10.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=0.325;SOR=0.971	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,836	9	0	1	0
chr8	144807638	144807638	C	G	exonic	ZNF517	.	nonsynonymous SNV	ZNF517:NM_001317936:exon5:c.C701G:p.A234G,ZNF517:NM_001384904:exon5:c.C722G:p.A241G,ZNF517:NM_213605:exon5:c.C722G:p.A241G,ZNF517:NM_001384905:exon6:c.C722G:p.A241G	.	429	1069	24	0	0	24	0.0111008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00084795732836	0.0003	0.000399361	0.0017	0	0.0006	0.0002	0.0003	0.0005	0.0059	0.0085	0.0010996	170	154602	rs145328614	0.0008	0.0008	0.0005	0.0011	0.0087	0.0008	0.0008	0.0076	0.0074	8.975e-05	0.0002	0.0015	2.524e-05	5.889e-05	0.0087	0.0003	0.0010	0.0081	0.0005	0.0005	0.0004	0.0007	0.0075	0.0004	0.0004	0.0055	0.0049	2.406e-05	0	0.0001	0.0006	0	9.418e-05	0.0068	0.0005	0.0005	0.0075	0.093	0.31532	T	0.035	0.52389	D	0.026	0.19406	B	0.026	0.20792	B	.	.	.	.	1	0.81001	D	-0.44	0.02835	N	2.13	0.19588	T	-2.48	0.54059	N	0.083	0.08088	-1.0289	0.20811	T	0.034	0.14552	T	9	0.005225897	0.00114	T	8.48E-4	0.00734	T	0.033	0.08068	.	.	0.0954503805726	0.09146	0.02932518378202898	0.02881	0.278568782868	0.30341	0.395311534405	0.24415	T	0.020404	0.16069	T	-0.57809	0.00198	T	-0.598737	0.12917	T	0.0217084522860914	0.00877	T	0.320768	0.06490	T	0.15683421	0.35371	0.16436942	0.38081	0.15683421	0.35371	0.16436942	0.38080	-5.478	0.41662	T	.	.	0.138	0.30211	B	.;.	.;.	2.431960	0.31291	18.70	0.99483157296345304	0.67014	0.01006	0.03801	N	AEFDBI	0.030302	0.03023	N	-0.464442923937653	0.23253	1.247385	-0.44975781783289	0.23556	1.285203	0.887889848489239	0.25776	0.718356	0.82227	0	0.577304	0.33150	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	2.7	2.7	0.31007	-0.193000	0.09572	-1.722000	0.04847	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.884000	0.42379	0.0:0.5886:0.4114:0.0	8.639	0.33126	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005056	0.005051	0.001359	0.008772	0.000000	0.008621	0.003125	0.011364	0.1	3603.14	35	chr8	144807638	.	C	G	3603.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=573;ExcessHet=0.2348;FS=1.413;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.71;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1076	8	0	2	0
chr8	144932518	144932518	G	T	exonic	ZNF16	.	nonsynonymous SNV	ZNF16:NM_006958:exon3:c.C269A:p.A90E,ZNF16:NM_001029976:exon4:c.C269A:p.A90E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00125334710863	.	.	9.081e-05	0	0	0.0003	0	0.0001	0	6.07e-05	7.76e-05	12	154602	rs767098172	5.472e-05	5.472e-05	5.445e-05	5.5e-05	0.0002	4.477e-05	4.147e-05	0.0001	8.775e-05	0	0	0	0.0002	0	0.0002	5.665e-05	1.656e-05	6.956e-05	5.256e-05	5.253e-05	5.138e-05	5.38e-05	0.0004	2.557e-05	1.83e-05	7.299e-05	3.032e-05	0	0	6.544e-05	0	0	0	0	7.349e-05	0	0.0004	1.0	0.27544	T	1.0	0.01155	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.16	0.50459	T	0.09	0.56945	N	0.126	0.12484	-1.0069	0.27881	T	0.039	0.16634	T	9	0.026155263	0.00789	T	0.001253	0.01683	T	0.133	0.36157	0.33	0.31519	0.0986583533028	0.09354	0.03691962009681974	0.03638	0.0848295226273	0.09583	0.258186757565	0.04677	T	0.001365	0.00832	T	-0.413686	0.01879	T	-0.539859	0.18310	T	0.0135514783243321	0.00249	T	0.128287	0.13351	T	0.0744182	0.16699	0.08126513	0.18454	0.0744182	0.16699	0.08126513	0.18454	-2.231	0.04194	T	.	.	0.088	0.30555	B	.;.;.;.;.	.;.;.;.;.	-0.068594	0.03831	0.821	0.20694797771256412	0.00755	0.03939	0.09336	N	AEFDGBI	0.041532	0.06327	N	-1.28325630360223	0.03876	0.1739792	-1.27299471794795	0.04799	0.2272319	0.343129968308414	0.19604	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.24	-2.5	0.06015	-0.965000	0.03939	-0.051000	0.12545	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.528000	0.29660	0.2704:0.2438:0.2215:0.2643	0.105	0.00047	774	0.48577	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1250.43	33	chr8	144932518	.	G	T	1250.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.431;DP=453;ExcessHet=0;FS=4.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.149;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1167	9	0	1	0
chr9	17085	17085	C	T	exonic	WASHC1	.	nonsynonymous SNV	WASHC1:NM_001378090:exon7:c.G763A:p.G255S,WASHC1:NM_182905:exon7:c.G763A:p.G255S	.	532	986	3	1	0	5	0.00252908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.000399361	0.0033	0.0023	0.0014	0.0010	0.0024	0.0044	0.0016	0.0024	0.002128	329	154602	rs199659819	0.0013	0.0017	0.0012	0.0014	0.0019	0.0013	0.0013	0.0017	0.0016	0.0004	0.0006	0.0014	0.0003	0.0028	0.0013	0.0013	0.0015	0.0019	0.0013	0.0019	0.0013	0.0013	0.0021	0.0011	0.0011	0.0015	0.0014	0.0006	0	0.0007	0.0026	0	0.0012	0.0045	0.0018	0	0.0021	.	.	.	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	.	.	.	3.49	0.92661	M	.	.	.	.	.	.	0.914	0.91621	.	.	.	.	.	.	.	0.26174238	0.43636	T	.	.	.	.	.	.	.	0.232513804876	0.22884	0.7356777179126428	0.73512	.	.	0.536515474319	0.43954	T	0.300206	0.67271	T	-0.0603366	0.42855	T	0.0227257	0.71805	D	.	.	.	0.824218	0.48580	T	0.052217238	0.09705	0.24027686	0.49397	0.052217238	0.09704	0.24027686	0.49396	-8.534	0.64654	D	.	.	0.161	0.35602	B	.	.	3.881178	0.56413	23.7	0.93954767271387951	0.24018	0.69122	0.34064	D	AEFI	.	.	.	.	.	.	.	.	.	0.0426668246593986	0.14536	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.347871	0.05795	0	0.762712	0.45224	1.16	1.16	0.19936	3.960000	0.56459	0.172000	0.15530	0.288000	0.18739	0.998000	0.41325	0.000000	0.08366	0.334000	0.25294	0.0:1.0:0.0:0.0	8.303	0.31183	982	0.03397	WASH1, WAHD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000648	0.000000	0.000000	0.000000	0.000000	0.009091	0.000000	0.000000	0.1	1030.78	19	chr9	17085	.	C	T	1030.78	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.61;DP=189;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1263;MLEAC=2;MLEAF=0.1;MQ=38.08;MQRankSum=0.201;QD=29.45;ReadPosRankSum=2;SOR=1.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,20:22:24:0|1:17060_C_A:709,0,24:17060	8	0	2	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1776.96	33	chr9	117371	.	C	*	1776.96	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.714;DP=213;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=5;MLEAF=0.25;MQ=46.25;MQRankSum=-3.333;QD=10.97;ReadPosRankSum=-0.128;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:14:99:.:.:313,328,492:.	5	0	5	0
chr9	379911	379911	G	A	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon20:c.G2377A:p.V793M,DOCK8:NM_001193536:exon20:c.G2377A:p.V793M,DOCK8:NM_203447:exon21:c.G2581A:p.V861M	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2183261	.	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00943690482145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.27904	T	0.256	0.40426	T	0.0	0.40023	B	0.004	0.40966	B	0.639294	0.10614	N	0.836372	1	0.08975	N	1.1	0.28011	L	1.46	0.32238	T	-0.31	0.23372	N	0.253	0.32481	-1.0625	0.11142	T	0.070	0.28609	T	10	0.116609216	0.22001	T	0.009437	0.24739	T	0.039	0.10176	0.309	0.28128	0.269111216191	0.26524	0.29557977611217423	0.29470	0.0489215141657	0.05346	0.289804518223	0.08894	T	0.103199	0.41163	T	-0.305022	0.08194	T	-0.67592	0.07235	T	0.25990703701973	0.23311	T	0.676232	0.33404	T	0.030696644	0.02777	0.048025377	0.07045	0.030696644	0.02777	0.048025377	0.07044	-5.055	0.39445	T	0.2042528810778257	0.27218	0.082	0.11749	B	.;.;.;.;.	.;.;.;.;.	1.810121	0.23007	15.85	0.46625105331627059	0.03749	0.08667	0.14564	N	AEFDBI	0.050243	0.08764	N	-0.828488023418414	0.12586	0.6143919	-0.830486230893736	0.13757	0.715426	0.989286905395624	0.31777	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.45	3.57	0.40014	0.331000	0.19477	0.876000	0.22354	-0.172000	0.11096	0.008000	0.17931	0.346000	0.24448	0.007000	0.07825	0.1066:0.5264:0.3671:0.0	11.475	0.49538	813	0.42397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1461.43	33	chr9	379911	.	G	A	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.497;DP=452;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.113;SOR=0.823	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1344	9	0	1	0
chr9	406999	406999	C	T	exonic	DOCK8	.	nonsynonymous SNV	DOCK8:NM_001190458:exon26:c.C3160T:p.R1054C,DOCK8:NM_001193536:exon27:c.C3256T:p.R1086C,DOCK8:NM_203447:exon28:c.C3460T:p.R1154C	Hyper-IgE recurrent infection syndrome, autosomal recessive, Autosomal recessive	0	1486	35	1	0	37	0.0122964	.	.	.	407710	not_provided|Combined_immunodeficiency_due_to_DOCK8_deficiency|.|not_specified|DOCK8-related_disorder	MedGen:C3661900|MONDO:MONDO:0009478,MedGen:C4722305,OMIM:243700,Orphanet:217390|.|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.288	0.016795402292	0.0015	0.00239617	0.0026	0.0002	0.0021	0.0001	0.0008	0.0025	0.0022	0.0068	0.0023932	370	154602	rs34390308	0.0019	0.0019	0.0016	0.0021	0.0085	0.0018	0.0018	0.0066	0.0063	0.0002	0.0015	0.0249	0	0.0011	0.0085	0.0010	0.0029	0.0069	0.0019	0.0019	0.0017	0.0020	0.0060	0.0017	0.0016	0.0043	0.0037	0.0001	0	0.0033	0.0242	0.0002	0.0008	0.0034	0.0015	0.0038	0.0060	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.049739	1	0.81001	D	1.155	0.29575	L	1.66	0.27486	T	-6.76	0.92736	D	0.833	0.82862	-1.0293	0.20681	T	0.158	0.49027	T	10	0.011115372	0.00244	T	0.016795	0.38225	T	0.288	0.60691	.	.	0.484109215787	0.48041	0.5377113857232877	0.53696	0.306616735053	0.32968	0.624718904495	0.56396	T	0.622668	0.88196	D	-0.235024	0.15989	T	-0.106786	0.62867	T	0.102144606949638	0.12591	T	0.950905	0.84591	D	0.74810517	0.80758	0.6437848	0.79179	0.72038245	0.79184	0.54444253	0.73669	-9.998	0.73900	D	0.5132293498190501	0.58668	0.216	0.50269	B	.;.;.;.	.;.;.;.	5.367910	0.90003	31	0.99947802293846078	0.99923	0.95127	0.63537	D	AEFBIJ	0.747506	0.68954	D	0.650964421836414	0.76433	6.485284	0.672967260541756	0.80332	7.275294	0.999985811417422	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	4.714000	0.61592	5.901000	0.50888	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.025	0.97519	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.015152	0.05	1685.43	36	chr9	406999	.	C	T	1685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.386;DP=481;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.844;SOR=0.683	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1324	9	0	1	0
chr9	710915	710915	A	T	exonic	KANK1	.	nonsynonymous SNV	KANK1:NM_001354331:exon3:c.A149T:p.D50V,KANK1:NM_001354332:exon3:c.A149T:p.D50V,KANK1:NM_015158:exon3:c.A149T:p.D50V,KANK1:NM_001256877:exon4:c.A149T:p.D50V,KANK1:NM_001354334:exon4:c.A149T:p.D50V,KANK1:NM_001256876:exon7:c.A149T:p.D50V	Cerebral palsy, spastic quadriplegic, 2	1	1515	6	0	0	6	0.00197628	.	.	.	364228	not_specified|not_provided|Amyotrophic_lateral_sclerosis	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.540	0.0529752443831	0.0075	0.00199681	0.0061	0.0018	0.0029	0	0.0041	0.0095	0.0033	0.0014	0.0059766	924	154602	rs61737971	0.0089	0.0089	0.0092	0.0085	0.0107	0.0087	0.0087	0.0105	0.0104	0.0013	0.0031	0.0028	2.519e-05	0.0036	0.0010	0.0107	0.0081	0.0019	0.0060	0.0060	0.0068	0.0051	0.0097	0.0056	0.0055	0.0091	0.0088	0.0019	0.0789	0.0030	0.0029	0	0.0024	0	0.0097	0.0033	0.0017	0.0	0.91255	D	0.002	0.79402	D	0.987	0.61912	D	0.891	0.63213	P	0.000069	0.52346	D	0.000000	1	0.81001	D	1.975	0.53506	M	0.43	0.56772	T	-6.6	0.92042	D	0.769	0.80669	-0.5011	0.68610	T	0.247	0.61589	T	10	0.012142837	0.00262	T	0.052975	0.65285	D	0.540	0.80782	.	.	0.708974317211	0.70643	0.336640057080387	0.33577	.	.	0.711781620979	0.68851	T	0.38746	0.74837	T	-0.12523	0.32271	T	0.0567348	0.74028	D	0.0271400286699636	0.01564	T	0.994801	0.98247	D	0.94224465	0.95476	0.94331384	0.97983	0.96596175	0.97874	0.9215795	0.96510	-13.555	0.91520	D	.	.	0.571	0.67664	P	.;.;.	.;.;.	4.832052	0.78802	27.0	0.99338654007958493	0.60091	0.97856	0.77642	D	AEFBCI	0.928155	0.91194	D	0.803717548085573	0.86338	8.853336	0.818634682209807	0.91056	10.69787	0.999999999999999	0.74766	0.732398	0.92422	0	0.59043	0.45803	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	8.841000	0.91766	11.193000	0.88739	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.416	0.83575	729	0.54495	Kank N-terminal motif;Kank N-terminal motif;Kank N-terminal motif	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1713.43	157	chr9	710915	.	A	T	1713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.74;DP=536;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.002;SOR=0.708	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1338	9	0	1	0
chr9	990508	990508	C	G	exonic	DMRT3	.	nonsynonymous SNV	DMRT3:NM_021240:exon2:c.C922G:p.P308A	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0349960857701	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs762258982	5.472e-06	5.472e-06	2.722e-06	8.25e-06	8.115e-05	2.35e-06	1.7e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	1.656e-05	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.247	0.23914	T	0.944	0.53183	P	0.523	0.48316	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	1.63	0.28002	T	-2.04	0.46842	N	0.768	0.76573	-1.0585	0.12134	T	0.084	0.32814	T	10	0.7700315	0.77008	D	0.034996	0.56052	D	0.211	0.50185	0.243	0.17677	0.748580935362	0.74631	0.4195080281412742	0.41866	0.411149595252	0.41879	0.681231737137	0.64445	T	0.276373	0.64895	T	-0.166292	0.25798	T	-0.295115	0.45239	T	0.578396201133728	0.35557	D	0.890711	0.62461	D	0.13644156	0.31630	0.174065	0.39776	0.13644156	0.31630	0.174065	0.39775	-3.709	0.19451	T	.	.	0.096	0.15475	B	.	.	3.453560	0.48099	22.6	0.97984493053571098	0.37349	0.98884	0.88144	D	AEFDGBI	0.815152	0.73720	D	0.322580924946089	0.57309	3.897784	0.329305923519567	0.57268	3.89199	0.999999999677924	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	7.175000	0.77181	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:1.0:0.0:0.0	18.200	0.89770	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3549.43	35	chr9	990508	.	C	G	3549.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.669;DP=693;ExcessHet=0;FS=1.957;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.277;SOR=0.815	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	9	0	1	0
chr9	1056852	1056852	C	T	exonic	DMRT2	.	nonsynonymous SNV	DMRT2:NM_001370532:exon3:c.C743T:p.A248V,DMRT2:NM_181872:exon4:c.C1265T:p.A422V	.	9	1497	15	1	0	17	0.00564596	.	.	.	3203422	DMRT2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.00375416157083	0.0008	0.00119808	0.0012	0.0004	0.0010	0	0	0.0010	0	0.0039	0.0012548	194	154602	rs143092642	0.0014	0.0014	0.0012	0.0015	0.0035	0.0013	0.0013	0.0031	0.0030	0.0004	0.0008	0.0023	2.519e-05	1.873e-05	0.0010	0.0013	0.0010	0.0035	0.0008	0.0008	0.0008	0.0009	0.0025	0.0007	0.0007	0.0014	0.0011	0.0002	0	0.0004	0.0032	0	0.0002	0.0034	0.0013	0.0005	0.0025	0.381	0.78490	T	0.278	0.22627	T	0.0	0.02946	B	0.001	0.04355	B	0.752943	0.06495	N	1.116660	1	0.81001	D	0.485	0.13215	N	1.89	0.29342	T	-0.55	0.38734	N	0.05	0.03175	-1.0171	0.24657	T	0.029	0.12585	T	10	0.0028017461	0.00044	T	0.003754	0.08713	T	0.035	0.08770	.	.	0.229924730088	0.22615	0.058524252430442986	0.05793	0.00703198026273	0.00619	0.293578326702	0.09446	T	0.073194	0.34638	T	-0.572337	0.00214	T	-0.596372	0.13119	T	0.00510607698439021	0.00055	T	0.561944	0.19701	T	0.038846813	0.05253	0.054690175	0.09454	0.038846813	0.05253	0.054690175	0.09454	-3.533	0.16897	T	.	.	0.072	0.06205	B	.;.;.	.;.;.	1.351061	0.17589	13.25	0.94894061333176261	0.25739	0.47282	0.27948	N	AEFDBI	0.125911	0.24263	N	-0.5953350171647	0.19086	0.9961344	-0.427057133274327	0.24207	1.324286	0.952911742279096	0.28043	0.594549	0.33734	0	0.563428	0.19063	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	5.45	3.41	0.38145	1.066000	0.30215	1.144000	0.24428	0.599000	0.40250	0.541000	0.27275	0.589000	0.25661	0.961000	0.51904	0.3551:0.5506:0.0:0.0942	6.646	0.22130	861	0.33516	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	2113.43	33	chr9	1056852	.	C	T	2113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.458;DP=697;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.371;SOR=0.7	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr9	4656074	4656074	C	A	exonic	SPATA6L	.	nonsynonymous SNV	SPATA6L:NM_001353485:exon3:c.G193T:p.V65L,SPATA6L:NM_001353486:exon3:c.G193T:p.V65L,SPATA6L:NM_001353487:exon3:c.G94T:p.V32L,SPATA6L:NM_001353484:exon4:c.G193T:p.V65L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00674944598607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.33753	T	0.161	0.31326	T	.	.	.	.	.	.	0.858354	0.08913	N	0.938409	0.996102	0.48980	D	.	.	.	0.85	0.47130	T	-1.04	0.27259	N	0.14	0.13911	-1.0099	0.26949	T	0.065	0.26702	T	9	0.091822684	0.16118	T	0.006749	0.17840	T	0.012	0.01476	0.21	0.12781	0.136095386433	0.13204	.	.	.	.	.	.	.	.	.	.	-0.291412	0.09496	T	-0.656369	0.08513	T	0.0845603696222459	0.10560	T	0.675932	0.28448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.37914	B	.	.	1.095387	0.14792	11.33	0.94074135346603938	0.24219	0.05689	0.11608	N	AEFI	0.109165	0.21693	N	-0.884571599419204	0.11209	0.5396901	-0.852702261151657	0.13223	0.6847632	0.150526256136465	0.17432	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.27	-2.95	0.05229	-0.526000	0.06295	-0.393000	0.09462	-0.183000	0.09960	0.059000	0.21734	0.170000	0.23335	0.947000	0.49155	0.151:0.4184:0.1545:0.2761	2.320	0.03951	906	0.23090	Spermatogenesis-associated protein 6, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	906.43	35	chr9	4656074	.	C	A	906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.9;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=2.36;SOR=0.748	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	9	0	1	0
chr9	4662598	4662598	G	C	exonic	PLPP6	.	nonsynonymous SNV	PLPP6:NM_203453:exon1:c.G223C:p.A75P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00896262609756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.22400	T	0.299	0.20422	T	0.001	0.07471	B	0.002	0.06944	B	0.116802	0.19179	U	0.472459	0.999466	0.21151	N	.	.	.	2.45	0.15028	T	-0.24	0.10833	N	0.094	0.07398	-1.0271	0.21396	T	0.023	0.09604	T	10	0.06678963	0.09212	T	0.008963	0.23607	T	0.050	0.13987	0.144	0.04746	0.0934897674506	0.08844	0.3951482662556802	0.39429	0.562027180475	0.52696	0.597203969955	0.52509	T	5.25E-4	0.00201	T	-0.17783	0.24059	T	-0.493217	0.23053	T	0.12500074812326	0.14912	T	0.426357	0.11459	T	0.12115092	0.28495	0.2637952	0.52191	0.12115092	0.28495	0.2637952	0.52190	-4.326	0.28540	T	.	.	0.084	0.09917	B	.	.	1.585780	0.20285	14.68	0.97342694362936844	0.33481	0.17677	0.19940	N	AEFDGBHCI	0.256592	0.37548	N	-0.774192015374447	0.13985	0.6930506	-0.748031120594603	0.15770	0.8310772	0.999999999998791	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.6	2.67	0.30756	0.361000	0.20003	1.331000	0.25669	0.675000	0.71128	0.000000	0.06391	0.082000	0.22400	0.283000	0.24091	0.0961:0.1667:0.5659:0.1714	3.430	0.06997	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	602.43	35	chr9	4662598	.	G	C	602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=338;ExcessHet=0;FS=2.824;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.54;SOR=0.292	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,640	9	0	1	0
chr9	5522576	5522576	G	-	exonic	PDCD1LG2	.	frameshift deletion	PDCD1LG2:NM_025239:exon2:c.30delG:p.E11Nfs*7	.	431	1065	25	1	0	27	0.0125174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.00199681	0.0020	0.0003	0.0006	0	0.0002	0.0026	0.0033	0.0033	0.0016817	260	154602	rs567501802	0.0016	0.0016	0.0014	0.0017	0.0116	0.0015	0.0015	0.0094	0.0086	0.0002	0.0010	0.0113	0	0.0002	0.0116	0.0013	0.0022	0.0037	0.0015	0.0015	0.0014	0.0015	0.0039	0.0013	0.0012	0.0026	0.0021	0.0002	0.0011	0.0014	0.0118	0	9.427e-05	0.0204	0.0017	0.0033	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012588	0.015152	0.010870	0.017544	0.000000	0.008621	0.012195	0.011364	0.1	3494.08	95	chr9	5522575	.	TG	T	3494.08	.	AC=2;AF=0.1;AN=20;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=36.86;SOR=0.848	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1336	9	1	0	0
chr9	5769287	5769287	G	A	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001135920:exon22:c.G3455A:p.G1152E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00999244677063	.	.	8.275e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs373084735	2.668e-05	2.668e-05	2.315e-05	3.026e-05	3.148e-05	1.998e-05	1.754e-05	2.286e-05	2.023e-05	0	0	0	0	0	0	3.148e-05	6.624e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.049	0.39820	D	0.185	0.28958	T	.	.	.	.	.	.	.	.	.	.	1	0.20048	N	.	.	.	.	.	.	0.89	0.01641	N	0.105	0.08925	-1.0117	0.26385	T	0.059	0.24539	T	7	0.047344953	0.04039	T	0.009992	0.25990	T	0.014	0.01968	0.328	0.31196	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.433024	0.01422	T	-0.703419	0.05641	T	0.0274934311937146	0.01615	T	0.254675	0.03932	T	.	.	.	.	.	.	.	.	-2.955	0.09705	T	.	.	0.092	0.13737	B	.	.	0.171489	0.05604	2.058	0.80049466912490164	0.13021	0.00475	0.02270	N	AEFBI	.	.	.	-1.27055826800917	0.04035	0.1813564	-1.32039856925998	0.04167	0.1959775	0.982119693844729	0.30355	0.489673	0.17934	0	0.71359	0.82159	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	3.62	0.539	0.16348	-0.254000	0.08801	.	.	-0.124000	0.13482	0.000000	0.06391	0.353000	0.24482	0.465000	0.28230	0.3312:0.0:0.6688:0.0	8.617	0.32997	457	0.78953	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1033.43	33	chr9	5769287	.	G	A	1033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=389;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.934;SOR=0.868	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1061	9	0	1	0
chr9	5769326	5769326	A	G	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001135920:exon22:c.A3494G:p.Y1165C	.	421	1091	10	0	0	10	0.00456204	.	.	.	3192615	RIC1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0241366048148	.	0.000199681	0.0008	0.0001	0.0007	0	0	0.0003	0.0023	0.0040	0.0006404	99	154602	rs144924840	0.0003	0.0003	0.0002	0.0005	0.0042	0.0003	0.0003	0.0029	0.0028	2.988e-05	0.0009	0.0023	0	0	0.0042	5.937e-05	0.0006	0.0032	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	4.81e-05	0	0.0009	0.0026	0	0	0	8.82e-05	0	0.0029	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.051	0.02272	-0.9893	0.32778	T	0.056	0.23488	T	7	0.00399065	0.00077	T	0.024137	0.47124	T	0.040	0.10527	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.69249	0.00040	T	-0.770227	0.02761	T	0.00663872989464111	0.00074	T	0.285671	0.05095	T	.	.	.	.	.	.	.	.	-2.934	0.09487	T	.	.	0.076	0.06024	B	.	.	-0.144545	0.03384	0.607	0.28093881451127017	0.01426	0.00660	0.02859	N	AEFBI	0.035325	0.04528	N	-1.78499845511997	0.00583	0.02511218	-1.93600907570605	0.00415	0.01834508	0.999999997349858	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.670488	0.60580	0	0.491896	0.07777	0	.	.	4.91	-9.82	0.00403	-1.344000	0.02746	.	.	-1.274000	0.01277	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.5141:0.2711:0.1285:0.0863	3.569	0.07461	457	0.78953	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	247.43	33	chr9	5769326	.	A	G	247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.033;DP=347;ExcessHet=0;FS=1.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.19;ReadPosRankSum=-1.521;SOR=0.941	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	9	0	1	0
chr9	5770093	5770093	A	G	exonic	RIC1	.	nonsynonymous SNV	RIC1:NM_001206557:exon22:c.A3320G:p.E1107G,RIC1:NM_020829:exon23:c.A3431G:p.E1144G	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00392568735886	.	.	0.0004	0.0002	0.0004	0	0.0002	0.0005	0	0.0003	0.0003299	51	154602	rs200822292	0.0003	0.0003	0.0002	0.0003	0.0057	0.0002	0.0002	0.0042	0.0037	0.0001	0.0005	0.0021	0	0	0.0057	0.0002	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	0	0	0.0002	0.0014	0	0	0.0170	0.0004	0.0009	0.0010	0.348	0.12386	T	0.335	0.18286	T	0.483	0.36807	P	0.122	0.32387	B	0.000010	0.62929	D	0.120765	0.999766	0.48888	D	1.32	0.33002	L	.	.	.	-0.77	0.21429	N	0.472	0.56489	-0.9367	0.43134	T	0.147	0.47129	T	9	0.031076789	0.01239	T	0.003926	0.09242	T	0.170	0.43303	.	.	0.043077524339	0.03247	0.3583041940539262	0.35744	.	.	0.483538359404	0.36544	T	0.041376	0.25837	T	-0.257526	0.13192	T	-0.260523	0.48772	T	0.0254421274288147	0.01331	T	0.865613	0.56501	D	0.1079291	0.25519	0.15755278	0.36835	0.1079291	0.25519	0.15755278	0.36834	-2.856	0.08711	T	.	.	0.090	0.15115	B	.;.	.;.	3.829295	0.55346	23.6	0.99553981915354806	0.71335	0.99354	0.94924	D	AEFBI	0.722077	0.67212	D	0.169237803292422	0.49725	3.169742	0.314489793788604	0.56389	3.802309	0.999998214705119	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.56	5.56	0.83678	6.328000	0.72873	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	15.724	0.77499	457	0.78953	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.008152	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	999.43	35	chr9	5770093	.	A	G	999.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.05;DP=403;ExcessHet=0;FS=5.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.392;SOR=1.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr9	6012426	6012426	T	A	exonic	RANBP6	.	nonsynonymous SNV	RANBP6:NM_012416:exon1:c.A3182T:p.Y1061F,RANBP6:NM_001243202:exon2:c.A2126T:p.Y709F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00179872399115	7.7e-05	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs371185956	1.368e-06	1.368e-06	0	2.751e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.872e-05	0	8.994e-07	0	0	6.57e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.191	0.21066	T	0.067	0.44302	T	0.024	0.19075	B	0.002	0.06944	B	0.029724	0.25411	N	0.447125	1	0.08975	N	0	0.06538	N	3.02	0.08986	T	-0.88	0.23808	N	0.122	0.11340	-1.0038	0.28814	T	0.009	0.03315	T	10	0.032308936	0.01380	T	0.001799	0.03089	T	0.063	0.18251	.	.	0.20549828249	0.20151	0.18040128133416425	0.17959	0.068523292122	0.07671	0.302464842796	0.10769	T	0.027281	0.20014	T	-0.34842	0.04828	T	-0.738258	0.03965	T	0.0409921611850071	0.03871	T	0.315568	0.06252	T	0.09117951	0.21358	0.041718204	0.04806	0.09117951	0.21358	0.041718204	0.04805	-1.328	0.01447	T	.	.	0.080	0.07554	B	.	.	-0.015551	0.04177	1.009	0.79097837304833352	0.12589	0.17886	0.20029	N	AEFBI	0.105429	0.21066	N	-1.02669120296607	0.08053	0.3762338	-1.0427811663421	0.08857	0.4376169	0.999995158045588	0.74766	0.722319	0.85440	0	0.662677	0.63036	0	0.575934	0.27490	0	0.735409	0.98432	0	.	.	4.67	-6.21	0.01887	-0.069000	0.11501	-1.402000	0.05524	0.665000	0.62972	0.036000	0.20778	0.000000	0.08366	0.988000	0.63387	0.2148:0.1409:0.3305:0.3138	1.14	0.01655	415	0.81806	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2858.43	36	chr9	6012426	.	T	A	2858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.561;DP=460;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.13;ReadPosRankSum=2.36;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1084:.	9	0	1	0
chr9	6645448	6645448	C	A	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon1:c.G52T:p.G18C	Glycine encephalopathy, Autosomal recessive	27	1475	18	2	0	22	0.00740242	.	.	.	313206	not_specified|Glycine_encephalopathy|GLDC-related_disorder|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.476	.	.	0.00319489	0.0123	0	0	0	0	0.0192	0.125	0.0086	0.0007633	118	154602	rs535143891	0.0095	0.0081	0.0096	0.0095	0.0101	0.0094	0.0093	0.0099	0.0099	0.0016	0.0032	0.0009	0	0.0222	0.0093	0.0101	0.0069	0.0036	0.0066	0.0066	0.0062	0.0070	0.0094	0.0062	0.0061	0.0088	0.0085	0.0017	0	0.0055	0.0014	0.0002	0.0156	0.0274	0.0094	0.0057	0.0037	0.141	0.25560	T	0.169	0.30534	T	0.975	0.58077	D	0.671	0.53151	P	0.012100	0.29294	N	0.380726	0.739385	0.33805	D	0	0.06538	N	-5.5	0.99147	D	0.01	0.06868	N	0.378	0.41952	0.903	0.95713	D	0.874	0.95827	D	10	0.0070572793	0.00160	T	.	.	.	0.476	0.76816	.	.	.	.	0.4784810235007385	0.47768	0.312158064667	0.33514	0.840447425842	0.88162	D	0.23734	0.60501	T	-0.187909	0.22567	T	-0.0303704	0.68344	D	0.050982793694094	0.05672	T	0.418458	0.11053	T	0.16432393	0.36632	0.07916797	0.17800	0.103731535	0.24519	0.084022224	0.19298	-5.233	0.39275	T	.	.	0.126	0.26576	B	.	.	2.336724	0.29942	18.28	0.99676450093362889	0.78977	0.30879	0.24195	N	AEFDBCI	0.230020	0.35346	N	-0.16275929776004	0.34693	1.983369	-0.177521095942134	0.32366	1.840615	0.999999949464295	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	4.51	3.62	0.40616	0.822000	0.27007	1.611000	0.27635	0.449000	0.21268	0.057000	0.21666	0.393000	0.24673	0.003000	0.05239	0.237:0.6659:0.0:0.0971	5.89	0.18149	882	0.29131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005333	0.000000	0.010638	0.010417	0.000000	0.000000	0.000000	0.000000	0.05	336.43	29	chr9	6645448	.	C	A	336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.834;DP=230;ExcessHet=0;FS=5.528;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-2.114;SOR=2.494	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	9	0	1	0
chr9	7011779	7011779	C	T	exonic	KDM4C	.	nonsynonymous SNV	KDM4C:NM_001304340:exon11:c.C1103T:p.T368M,KDM4C:NM_001146695:exon13:c.C1868T:p.T623M,KDM4C:NM_001146696:exon13:c.C1934T:p.T645M,KDM4C:NM_001304339:exon13:c.C1868T:p.T623M,KDM4C:NM_001353997:exon13:c.C1868T:p.T623M,KDM4C:NM_001353998:exon13:c.C1868T:p.T623M,KDM4C:NM_015061:exon13:c.C1868T:p.T623M,KDM4C:NM_001353999:exon14:c.C557T:p.T186M,KDM4C:NM_001354000:exon14:c.C557T:p.T186M,KDM4C:NM_001354001:exon14:c.C557T:p.T186M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0210769344465	7.7e-05	.	2.473e-05	9.612e-05	0	0.0001	0	1.499e-05	0	0	1.94e-05	3	154602	rs144567752	5.473e-06	5.472e-06	5.445e-06	5.5e-06	6.708e-05	2.35e-06	1.7e-06	1.779e-05	8.93e-06	2.987e-05	6.708e-05	0	2.519e-05	1.872e-05	0	8.993e-07	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.551e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.827e-05	0	6.551e-05	0	0	0	0	0	0	0	0.008	0.68238	D	0.079	0.72224	T	0.998	0.73220	D	0.899	0.63802	P	0.000348	0.45440	D	0.219510	0.992419	0.48635	D	2.19	0.61577	M	0.6	0.53731	T	-2.25	0.52128	N	0.515	0.56058	-0.5574	0.66503	T	0.272	0.64391	T	10	0.24996251	0.42315	T	0.021077	0.43792	T	0.174	0.44019	.	.	0.674432666684	0.67167	0.2940037913861243	0.29313	0.220091016558	0.24552	0.414732396603	0.27111	T	0.034993	0.39959	T	-0.158747	0.26954	T	-0.284278	0.46364	T	0.606042444705963	0.36641	D	0.964704	0.86917	D	0.09003283	0.21053	0.10490057	0.25205	0.09003283	0.21053	0.10490057	0.25204	-8.994	0.68753	D	.	.	0.115	0.23219	B	.;.;.;.;.	.;.;.;.;.	4.473081	0.69718	25.4	0.99900692280111281	0.97275	0.74911	0.36658	D	AEFGBHCI	0.185593	0.31291	N	0.567576716567731	0.71158	5.608645	0.554347165222582	0.71699	5.695045	0.999999999519328	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.644132	0.48003	0	0.678554	0.66404	0	.	.	5.76	4.83	0.61880	1.645000	0.36855	4.091000	0.41805	0.599000	0.40250	0.861000	0.30630	0.999000	0.35428	0.963000	0.52385	0.1318:0.7413:0.1269:0.0	12.473	0.55139	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1097.43	34	chr9	7011779	.	C	T	1097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=0.831;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	9	0	1	0
chr9	12821696	12821696	T	C	exonic	LURAP1L	.	nonsynonymous SNV	LURAP1L:NM_203403:exon2:c.T623C:p.I208T	.	429	1067	26	0	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0065	0.00658946	0.0067	0.0021	0.0056	0	0.0038	0.0081	0.0088	0.0096	0.0067011	1036	154602	rs61755264	0.0083	0.0083	0.0082	0.0085	0.0137	0.0082	0.0081	0.0113	0.0104	0.0012	0.0057	0.0159	2.519e-05	0.0040	0.0137	0.0089	0.0077	0.0092	0.0052	0.0052	0.0053	0.0050	0.0078	0.0049	0.0047	0.0072	0.0070	0.0015	0	0.0054	0.0127	0	0.0017	0.0068	0.0078	0.0099	0.0058	0.067	0.35918	T	0.253	0.23501	T	.	.	.	.	.	.	0.572551	0.05488	N	1.264020	1	0.08975	N	.	.	.	0.84	0.47477	T	0.16	0.05217	N	0.093	0.07262	-1.0354	0.18731	T	0.050	0.21182	T	10	0.005319059	0.00117	T	.	.	.	0.074	0.21613	.	.	0.3085936734	0.30458	0.07636395279697009	0.07572	0.0354923742789	0.03747	0.362109303474	0.19693	T	.	.	.	-0.629934	0.00096	T	-0.670526	0.07575	T	0.00269191200996451	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.	.	0.878504	0.12517	9.046	0.93405647518646784	0.23166	0.14882	0.18634	N	AEFDBI	0.196794	0.32375	N	-0.566462906350943	0.19970	1.049335	-0.465356978719384	0.23114	1.258878	0.999961960060817	0.48965	0.533608	0.22052	0	0.573888	0.26702	0	0.618467	0.43123	0	0.638833	0.57524	0	.	.	5.59	4.45	0.53365	1.991000	0.40348	0.178000	0.15598	-0.115000	0.14600	0.345000	0.25717	0.208000	0.23622	0.818000	0.38543	0.0:0.1423:0.1354:0.7223	6.187	0.19718	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.025253	0.006793	0.014620	0.000000	0.000000	0.009146	0.000000	0.05	3130.43	35	chr9	12821696	.	T	C	3130.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=573;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=1.75;SOR=0.69	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1273	9	0	1	0
chr9	13176361	13176361	T	A	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon20:c.A2706T:p.E902D,MPDZ:NM_001261407:exon20:c.A2706T:p.E902D,MPDZ:NM_001330637:exon20:c.A2706T:p.E902D,MPDZ:NM_001375413:exon20:c.A2706T:p.E902D,MPDZ:NM_001375416:exon20:c.A2706T:p.E902D,MPDZ:NM_001375417:exon20:c.A2706T:p.E902D,MPDZ:NM_001375419:exon20:c.A2706T:p.E902D,MPDZ:NM_001375420:exon20:c.A2706T:p.E902D,MPDZ:NM_001375422:exon20:c.A2706T:p.E902D,MPDZ:NM_001375424:exon20:c.A2706T:p.E902D,MPDZ:NM_001375425:exon20:c.A2706T:p.E902D,MPDZ:NM_001375426:exon20:c.A2706T:p.E902D,MPDZ:NM_001375427:exon20:c.A2706T:p.E902D,MPDZ:NM_001378778:exon20:c.A2706T:p.E902D,MPDZ:NM_003829:exon20:c.A2706T:p.E902D,MPDZ:NM_001375418:exon21:c.A2706T:p.E902D,MPDZ:NM_001375421:exon21:c.A2706T:p.E902D,MPDZ:NM_001375423:exon21:c.A2706T:p.E902D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	429	1086	6	1	0	8	0.00366972	.	.	.	1558878	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.00596455195966	.	.	0.0002	0	0	0	0	0.0001	0	0.0009	0.00011	17	154602	rs759673011	5.708e-05	5.746e-05	4.1e-05	7.337e-05	0.0017	4.701e-05	4.324e-05	0.0009	0.0007	0	0.0002	3.858e-05	0	0	0.0017	9.026e-06	0.0002	0.0005	5.909e-05	5.905e-05	2.569e-05	9.403e-05	0.0004	3.075e-05	2.209e-05	7.293e-05	3.03e-05	0	0	0.0001	0	0	0	0	5.882e-05	0.0005	0.0004	0.256	0.17014	T	0.562	0.11479	T	0.001	0.07471	B	0.005	0.11217	B	0.049613	0.23145	N	0.306654	0.999985	0.18198	N	0.755	0.19153	N	2.82	0.11407	T	-0.71	0.20145	N	0.068	0.10626	-0.9953	0.31218	T	0.010	0.03811	T	10	0.020094454	0.00458	T	0.005965	0.15549	T	0.019	0.03383	0.294	0.25720	0.154104182512	0.14974	0.255744139467749	0.25488	.	.	0.360552638769	0.19466	T	0.035377	0.23695	T	-0.556551	0.00266	T	-0.66017	0.08255	T	0.0170172369605473	0.00450	T	0.788921	0.42853	T	0.06587644	0.14122	0.045526914	0.06144	0.049819794	0.08905	0.04392812	0.05578	-3.5	0.17067	T	.	.	0.093	0.31177	B	.;.;.;.;.;.	.;.;.;.;.;.	1.412404	0.18282	13.65	0.77058350229666039	0.11719	0.27384	0.23262	N	AEFBCI	0.052046	0.09251	N	-0.763136868338022	0.14279	0.7099809	-0.642898371349318	0.18397	0.982544	0.805326655034651	0.24259	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.78	-1.9	0.07248	0.204000	0.17133	-1.003000	0.06640	0.665000	0.62972	0.802000	0.29747	0.002000	0.18203	0.977000	0.56843	0.1933:0.4021:0.1105:0.2941	2.154	0.03574	592	0.68746	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001512	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	726.43	41	chr9	13176361	.	T	A	726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=412;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.76;SOR=0.882	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr9	13223710	13223710	C	T	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon5:c.G394A:p.G132S,MPDZ:NM_001261407:exon5:c.G394A:p.G132S,MPDZ:NM_001330637:exon5:c.G394A:p.G132S,MPDZ:NM_001375413:exon5:c.G394A:p.G132S,MPDZ:NM_001375416:exon5:c.G394A:p.G132S,MPDZ:NM_001375417:exon5:c.G394A:p.G132S,MPDZ:NM_001375419:exon5:c.G394A:p.G132S,MPDZ:NM_001375420:exon5:c.G394A:p.G132S,MPDZ:NM_001375422:exon5:c.G394A:p.G132S,MPDZ:NM_001375424:exon5:c.G394A:p.G132S,MPDZ:NM_001375425:exon5:c.G394A:p.G132S,MPDZ:NM_001375426:exon5:c.G394A:p.G132S,MPDZ:NM_001375427:exon5:c.G394A:p.G132S,MPDZ:NM_001378778:exon5:c.G394A:p.G132S,MPDZ:NM_003829:exon5:c.G394A:p.G132S,MPDZ:NM_001375418:exon6:c.G394A:p.G132S,MPDZ:NM_001375421:exon6:c.G394A:p.G132S,MPDZ:NM_001375423:exon6:c.G394A:p.G132S	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	424	1093	5	0	0	5	0.00228206	0.9998	0.906	YES	980246	MPDZ-related_disorder|Hydrocephalus,_nonsyndromic,_autosomal_recessive_2|not_provided|Inborn_genetic_diseases	.|MONDO:MONDO:0014085,MedGen:C3554691,OMIM:615219,Orphanet:2185|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.412	.	.	0.000399361	0.0007	0.0002	0.0007	0	0	0.0003	0	0.0025	0.0003493	54	154602	rs201101621	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0002	0.0016	0.0015	6.096e-05	0.0002	7.852e-05	2.57e-05	0	0.0019	0.0001	0.0002	0.0018	0.0001	0.0001	0.0001	0.0001	0.0017	8.18e-05	6.734e-05	0.0008	0.0006	2.411e-05	0	0.0001	0	0	0	0	0.0001	0.0005	0.0017	0.034	0.58626	D	0.008	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000362	0.45194	D	0.000000	1	0.81001	D	2.135	0.59519	M	1.15	0.38236	T	-5.11	0.83092	D	0.785	0.84713	-0.9386	0.42837	T	0.182	0.52980	T	10	0.040896535	0.02698	T	0.070502	0.71020	D	0.412	0.72328	.	.	0.340032825777	0.33618	0.6551711625284203	0.65453	.	.	0.631065607071	0.57296	T	0.16244	0.50710	T	-0.122761	0.32673	T	0.0436216	0.73165	D	0.182919590480039	0.19418	T	0.955204	0.82942	D	0.43535444	0.63102	0.5114426	0.71768	0.43535444	0.63103	0.5114426	0.71768	-7.587	0.58220	D	.	.	0.248	0.50745	B	.;.;.;.;.;.	.;.;.;.;.;.	4.996362	0.82867	27.9	0.99849449483354025	0.92925	0.99079	0.90917	D	AEFBI	0.942156	0.94637	D	0.759990831907788	0.83552	8.047855	0.80504911703853	0.90143	10.27472	0.999999999994685	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.08	6.08	0.98982	7.568000	0.81546	7.615000	0.62066	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.663	0.99665	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004541	0.000000	0.004076	0.005917	0.000000	0.000000	0.000000	0.015152	0.05	419.43	34	chr9	13223710	.	C	T	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.934;DP=358;ExcessHet=0;FS=5.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.061;SOR=0.214	GT:AD:DP:GQ:PL	0/0:38,0:38:90:0,90,1350	9	0	1	0
chr9	14116328	14116328	C	G	exonic	NFIB	.	nonsynonymous SNV	NFIB:NM_001282787:exon8:c.G508C:p.V170L,NFIB:NM_001190737:exon9:c.G1264C:p.V422L,NFIB:NM_001369458:exon9:c.G1330C:p.V444L,NFIB:NM_001369459:exon9:c.G1330C:p.V444L,NFIB:NM_001369460:exon9:c.G1252C:p.V418L,NFIB:NM_001369461:exon9:c.G1264C:p.V422L,NFIB:NM_001369463:exon9:c.G1252C:p.V418L,NFIB:NM_001369465:exon9:c.G1237C:p.V413L,NFIB:NM_001369470:exon9:c.G1027C:p.V343L	.	422	1095	1	0	4	5	0.000456413	.	.	.	2477064	NFIB-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0161905154602	.	0.000399361	0.0015	0	0	0	0.0012	0.0025	0	0.0012	0.0005757	89	154602	rs72698746	0.0028	0.0026	0.0029	0.0026	0.0033	0.0027	0.0027	0.0033	0.0032	0.0006	0.0002	4.188e-05	0	0.0009	0.0005	0.0033	0.0019	0.0006	0.0018	0.0018	0.0019	0.0016	0.0034	0.0016	0.0015	0.0031	0.0029	0.0004	0	0.0004	0	0	0.0005	0.0034	0.0034	0.0009	0.0008	0.208	0.19782	T	0.321	0.19073	T	.	.	.	.	.	.	0.000001	0.62929	D	0.055955	0.999988	0.81001	D	.	.	.	0.68	0.51952	T	-0.19	0.11185	N	0.454	0.49146	-1.0584	0.12159	T	0.103	0.38069	T	10	0.01411134	0.00297	T	0.016191	0.37323	T	0.128	0.35103	0.428	0.47515	0.128874641272	0.12493	0.24784222349546148	0.24698	1.10474106338	0.77854	0.782310962677	0.79275	T	0.01409	0.12064	T	-0.378648	0.03178	T	-0.308717	0.43797	T	0.0533436128814779	0.06078	T	0.819218	0.51077	T	.	.	.	.	.	.	.	.	-3.243	0.13013	T	.	.	0.200	0.48240	B	.;.;.;.;.;.	.;.;.;.;.;.	4.777721	0.77400	26.7	0.99316180532571674	0.59204	0.99613	0.97991	D	AEFGBI	0.904707	0.85533	D	0.122241131694498	0.47503	2.975025	0.28276738097025	0.54532	3.618022	0.999999999385736	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	7.470000	0.79974	6.021000	0.52793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9326:0.0:0.0674	15.130	0.72188	555	0.71762	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1102.43	34	chr9	14116328	.	C	G	1102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.943;DP=401;ExcessHet=0;FS=2.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.599;SOR=1.022	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1212	9	0	1	0
chr9	14532015	14532015	C	T	exonic	NFIB	.	nonsynonymous SNV	NFIB:NM_001369458:exon1:c.G28A:p.G10R,NFIB:NM_001369459:exon1:c.G28A:p.G10R,NFIB:NM_001369462:exon1:c.G28A:p.G10R,NFIB:NM_001369468:exon1:c.G28A:p.G10R	.	1122	399	1	0	0	1	0.00125156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.272e-05	0	0	.	0	0	.	.	0	.	0	.	0	0	0	0	0	6.57e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	39.43	12	chr9	14532015	.	C	T	39.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=144;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.939;SOR=1.093	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,405	9	0	1	0
chr9	14819330	14819330	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon14:c.G2450A:p.R817Q,FREM1:NM_144966:exon15:c.G2450A:p.R817Q	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	901649	Oculotrichoanal_syndrome|not_provided|BNAR_syndrome|Trigonocephaly_2	MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:C3661900|MONDO:MONDO:0012165,MedGen:C2750433,OMIM:608980,Orphanet:217266|MONDO:MONDO:0013774,MedGen:C3280974,OMIM:614485,Orphanet:3366	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.065	0.00688707000834	0.0002	0.000199681	0.0002	0	0.0005	0	0	0.0003	0.0011	0	0.0001811	28	154602	rs200495440	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	0	0.0004	0.0047	5.039e-05	0	0	3.868e-05	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	8.713e-05	5.278e-05	2.833e-05	2.406e-05	0	0.0002	0.0040	0	0	0	7.351e-05	0	0	0.95	0.02146	T	0.75	0.04807	T	0.002	0.09854	B	0.001	0.04355	B	0.002279	0.36887	N	0.334638	1	0.08975	N	-1.475	0.00530	N	1.86	0.24285	T	0.56	0.02680	N	0.057	0.06059	-0.9868	0.33396	T	0.013	0.04890	T	10	0.0051345825	0.00111	T	0.006887	0.18233	T	0.065	0.18881	.	.	0.202086224978	0.19791	0.23678240275522044	0.23593	.	.	0.202627420425	0.00537	T	0.032119	0.22347	T	-0.601328	0.00143	T	-0.779576	0.02466	T	0.0172645698358052	0.00468	T	0.69823	0.30825	T	0.018402983	0.00361	0.027829597	0.00966	0.018402983	0.00361	0.027829597	0.00966	-5.192	0.38860	T	0.05973637893199889	0.01594	0.069	0.03231	B	.;.	.;.	0.356926	0.07298	3.906	0.48709830075915678	0.04087	0.02258	0.06533	N	AEFBI	0.046612	0.07758	N	-0.999623590294994	0.08612	0.404448	-0.820096600458647	0.14008	0.7297653	0.0379390555732823	0.14322	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.86	3.52	0.39415	1.477000	0.35039	-0.413000	0.09334	-0.190000	0.09434	0.979000	0.35152	0.000000	0.08366	0.001000	0.02609	0.1376:0.0777:0.1435:0.6412	3.245	0.06394	796	0.45353	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	895.43	34	chr9	14819330	.	C	T	895.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.509;DP=429;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.335;SOR=0.984	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,110,1119	9	0	1	0
chr9	15211306	15211306	C	T	exonic	TTC39B	.	nonsynonymous SNV	TTC39B:NM_001168341:exon3:c.G367A:p.G123S,TTC39B:NM_001168342:exon3:c.G79A:p.G27S,TTC39B:NM_001168339:exon5:c.G574A:p.G192S,TTC39B:NM_001168340:exon5:c.G574A:p.G192S,TTC39B:NM_152574:exon5:c.G574A:p.G192S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.0421623752176	7.7e-05	.	1.7e-05	9.647e-05	0	0	0	1.523e-05	0	0	1.94e-05	3	154602	rs149019264	1.745e-05	1.847e-05	1.527e-05	1.965e-05	2.091e-05	1.198e-05	1.012e-05	1.392e-05	1.163e-05	0	0	0	0	1.884e-05	0	2.091e-05	1.688e-05	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	4.826e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	2.94e-05	0	0	0.013	0.54683	D	0.072	0.43531	T	.	.	.	.	.	.	0.000002	0.62929	D	0.059222	1	0.81001	D	2.695	0.78878	M	1.0	0.41392	T	-0.42	0.14978	N	0.564	0.59816	-0.5860	0.65380	T	0.275	0.64629	T	10	0.44618478	0.58411	T	0.042162	0.60319	D	0.100	0.28662	.	.	0.38342384377	0.37955	0.6559990771203544	0.65535	0.303624687715	0.32687	0.587440729141	0.51133	T	0.021804	0.16921	T	-0.130186	0.31467	T	-0.238876	0.50907	T	0.502900736840678	0.32735	D	0.962104	0.85685	D	0.1812165	0.39280	0.19688584	0.43442	0.1812165	0.39280	0.19688584	0.43441	-7.651	0.58813	D	.	.	0.633	0.73041	P	.;.;.;.;.	.;.;.;.;.	5.090261	0.84994	28.5	0.99892371659028978	0.96589	0.96376	0.68836	D	AEFDGBHCI	0.908754	0.86448	D	0.659926063580848	0.77011	6.593626	0.679631119304114	0.80834	7.387928	1.0	0.98316	0.743674	0.98306	0	0.61073	0.52368	0	0.601832	0.32385	0	0.584449	0.35598	0	.	.	5.78	5.78	0.91418	7.876000	0.85623	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.665000	0.33109	0.0:1.0:0.0:0.0	19.607	0.95579	859	0.33891	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1218.43	33	chr9	15211306	.	C	T	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=420;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.756;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	9	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P,CNTLN:NM_017738:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	217.4	41	chr9	17394900	.	T	C	217.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.079;DP=643;ExcessHet=0.2348;FS=212.351;InbreedingCoeff=-0.1223;MLEAC=2;MLEAF=0.1;MQ=59.96;MQRankSum=0;QD=1.27;ReadPosRankSum=0.043;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,972:.	8	0	2	0
chr9	17394996	17394996	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.C2542T:p.H848Y,CNTLN:NM_017738:exon15:c.C2542T:p.H848Y	.	426	1078	15	3	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0057	0.00359425	0.0058	0.0004	0.0038	0	0.0127	0.0079	0.0089	0.0024	0.0058279	901	154602	rs144166918	0.0068	0.0068	0.0069	0.0066	0.0071	0.0067	0.0066	0.0069	0.0069	0.0009	0.0051	0.0203	2.519e-05	0.0116	0.0061	0.0071	0.0059	0.0031	0.0052	0.0052	0.0050	0.0054	0.0069	0.0049	0.0048	0.0059	0.0055	0.0007	0	0.0069	0.0202	0	0.0144	0.0136	0.0062	0.0038	0.0017	0.014	0.53172	D	0.044	0.49663	D	0.264	0.31602	B	0.055	0.25995	B	.	.	.	.	0.95295	0.37808	D	2.43	0.70455	M	2.21	0.18414	T	-1.33	0.33197	N	0.436	0.47487	-1.1197	0.02350	T	0.066	0.27364	T	9	0.005052775	0.00109	T	.	.	.	0.097	0.27909	.	.	0.0611884634855	0.05136	0.08164205980192901	0.08099	.	.	0.426689594984	0.28755	T	.	.	.	-0.404872	0.02151	T	-0.348657	0.39359	T	0.0438886258736104	0.04401	T	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	0.175	0.38281	B	.	.	4.184124	0.63012	24.5	0.99773894908934191	0.86174	0.93785	0.59184	D	AEFBI	0.523727	0.54721	D	0.423311050390687	0.62706	4.491064	0.530791572137921	0.70071	5.451773	0.99999999363096	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.601000	0.74015	7.731000	0.67736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.942	0.97166	651	0.62880	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.05	495.43	41	chr9	17394996	.	C	T	495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.402;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,972:.	9	0	1	0
chr9	18622276	18622276	G	A	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon5:c.G508A:p.V170I,ADAMTSL1:NM_052866:exon5:c.G508A:p.V170I	.	430	1071	20	1	0	22	0.0101664	.	.	.	3208148	ADAMTSL1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.092	0.00558072628727	0.0019	0.00219649	0.0029	0.0004	0.0029	0.0001	0.0035	0.0032	0.0044	0.0048	0.0027619	427	154602	rs146511703	0.0024	0.0024	0.0023	0.0026	0.0120	0.0024	0.0023	0.0097	0.0089	0.0004	0.0025	0.0007	7.559e-05	0.0018	0.0120	0.0024	0.0023	0.0051	0.0022	0.0022	0.0021	0.0023	0.0048	0.0020	0.0019	0.0033	0.0028	0.0004	0	0.0028	0.0009	0	0.0022	0.0204	0.0031	0.0019	0.0048	0.12	0.31987	T	0.083	0.41405	T	0.001	0.13644	B	0.0	0.10090	B	.	.	.	.	0.976175	0.26481	N	1.095	0.27400	L	-0.31	0.68030	T	-0.72	0.25770	N	0.168	0.24883	-0.9663	0.37954	T	0.127	0.43380	T	9	0.0058428645	0.00130	T	0.005581	0.14409	T	0.092	0.26621	.	.	0.459818148978	0.45609	0.15861690945872592	0.15782	0.0558040157175	0.06170	0.31782501936	0.13091	T	0.035502	0.23742	T	-0.507669	0.00517	T	-0.501467	0.22195	T	0.0204572970002746	0.00745	T	0.790821	0.43180	T	0.042745262	0.06540	0.07514392	0.16512	0.042745262	0.06540	0.07514392	0.16511	-6.548	0.52238	T	.	.	0.083	0.09723	B	.;.;.;.;.	.;.;.;.;.	2.315542	0.29649	18.19	0.99393732674537361	0.62474	0.89029	0.49255	D	AEFBHCI	0.442653	0.50029	N	-0.253459625366045	0.30965	1.73169	-0.0887941676486003	0.35853	2.079185	0.999996183082164	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.63	2.68	0.30839	4.871000	0.62737	1.839000	0.29174	0.676000	0.76740	1.000000	0.71638	0.946000	0.28899	0.998000	0.85391	0.0795:0.0:0.9205:0.0	14.571	0.67803	912	0.21483	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.010101	0.010870	0.011696	0.000000	0.000000	0.006098	0.003788	0.05	1712.43	34	chr9	18622276	.	G	A	1712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=480;ExcessHet=0;FS=2.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=0.4;SOR=0.936	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1246	9	0	1	0
chr9	19056387	19056387	T	A	exonic	HAUS6	.	stopgain	HAUS6:NM_001270890:exon17:c.A2719T:p.K907X,HAUS6:NM_017645:exon17:c.A2824T:p.K942X	.	752	768	1	1	0	3	0.00194932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00239617	0.0008	0	8.654e-05	0.0101	0	0	0.0022	0.0002	0.000705	109	154602	rs140286860	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0002	0.0054	0.0051	0	0	0	0.0060	0	0	0	0.0002	0.0003	0.0003	0.0003	0.0003	0.0003	0.0083	0.0002	0.0002	0.0063	0.0056	0	0	0	0	0.0083	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.003379	0.35041	N	0.213792	0.999703	0.48408	D	.	.	.	.	.	.	.	.	.	0.109	0.09490	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10892	0.65240	D	0.391213	0.91823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.208576	0.98618	40	0.99390786828940214	0.62337	0.78313	0.38618	D	AEFBI	0.066764	0.13090	N	0.621602651939915	0.74544	6.150539	0.449505058543662	0.64683	4.729432	0.0517852470500704	0.14885	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	4.33	4.33	0.51083	2.212000	0.42474	2.705000	0.34191	0.665000	0.62972	0.966000	0.33990	1.000000	0.68203	0.792000	0.37394	0.0:0.1065:0.0:0.8935	6.633	0.22060	617	0.66297	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	528.43	34	chr9	19056387	.	T	A	528.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.433;DP=360;ExcessHet=0;FS=2.371;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-1.429;QD=10.36;ReadPosRankSum=-0.556;SOR=0.839	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1004	9	0	1	0
chr9	19116272	19116272	C	A	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon8:c.G1290T:p.Q430H	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00653634204652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.62352	D	0.009	0.15093	B	0.004	0.10090	B	0.011797	0.01317	N	3.404500	1	0.08975	N	1.7	0.43825	L	3.84	0.03675	T	-0.49	0.15578	N	0.141	0.14054	-0.9691	0.37386	T	0.015	0.06282	T	10	0.06954703	0.09993	T	0.006536	0.17215	T	0.093	0.26882	0.031	0.00008	0.187945064343	0.18414	0.39774504268235733	0.39689	0.0683332490101	0.07650	0.225531488657	0.01654	T	0.206579	0.56597	T	-0.272206	0.11512	T	-0.628782	0.10506	T	0.144211338081374	0.16633	T	0.456654	0.13107	T	0.03380936	0.03675	0.041194964	0.04627	0.03380936	0.03674	0.041194964	0.04627	-4.423	0.29867	T	.	.	0.109	0.20896	B	.	.	1.675947	0.21365	15.17	0.96391920325101244	0.29658	0.57583	0.30415	D	AEFDGBCI	0.284662	0.39747	N	-0.755900022878594	0.14473	0.7212543	-0.752002959283515	0.15673	0.8254652	0.999999704061571	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.25	1.78	0.23918	0.653000	0.24588	0.079000	0.14366	0.599000	0.40250	0.017000	0.19353	0.002000	0.18203	0.113000	0.18872	0.2555:0.3547:0.0:0.3898	1.970	0.03197	664	0.61548	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	667.43	36	chr9	19116272	.	C	A	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.092;DP=374;ExcessHet=0;FS=0.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=2.1;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1063	9	0	1	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.005051	0.017663	0.002924	0.050000	0.017241	0.021341	0.034091	0.05	1794.43	34	chr9	19126126	.	G	C	1794.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.702;DP=466;ExcessHet=0;FS=2.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-1.069;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	9	0	1	0
chr9	20414312	20414312	-	CTG	exonic	MLLT3	.	nonframeshift insertion	MLLT3:NM_001286691:exon5:c.524_525insCAG:p.S187_T188insS,MLLT3:NM_004529:exon5:c.533_534insCAG:p.S190_T191insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489057703	0.0011	0.0012	0.0010	0.0013	0.0066	0.0011	0.0011	0.0060	0.0057	0.0021	0.0018	0.0022	0.0066	0.0005	0.0018	0.0006	0.0017	0.0039	0.0034	0.0034	0.0035	0.0033	0.0063	0.0031	0.0030	0.0045	0.0039	0.0046	0	0.0037	0.0051	0.0024	0.0006	0.0070	0.0028	0.0049	0.0063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	480.39	34	chr9	20414312	.	A	ACTG	480.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.336;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=0.976;SOR=1.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1221:.	9	0	1	0
chr9	20414343	20414345	CTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.492_494del:p.S187del,MLLT3:NM_004529:exon5:c.501_503del:p.S190del	.	22	1498	2	0	0	2	0.000667111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1038	.	0.0001	0	0	0.0001	0	0.0001	0	0.0003	6.5e-06	1	154602	rs767180736	0.0012	0.0026	0.0011	0.0013	0.0042	0.0012	0.0012	0.0037	0.0035	0.0023	0.0017	0.0051	0.0042	0.0021	0.0018	0.0009	0.0019	0.0014	0.0042	0.0042	0.0044	0.0040	0.0065	0.0039	0.0038	0.0059	0.0056	0.0065	0	0.0038	0.0081	0.0041	0.0011	0.0071	0.0032	0.0048	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	893.39	34	chr9	20414342	.	GCTA	G	893.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.116;DP=385;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=-1.331;SOR=0.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1221:.	9	0	1	0
chr9	20414370	20414378	CTGCTGCTA	-	exonic	MLLT3	.	nonframeshift deletion	MLLT3:NM_001286691:exon5:c.459_467del:p.S185_S187del,MLLT3:NM_004529:exon5:c.468_476del:p.S188_S190del	.	1	224	1	0	0	1	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.869e-05	0	0	0	0	3.467e-05	0	0	6.5e-06	1	154602	rs771319563	8.192e-05	0.0002	6.985e-05	9.411e-05	0.0002	6.978e-05	6.527e-05	9.778e-05	6.969e-05	0.0002	4.494e-05	3.84e-05	0.0001	0.0003	0	7.21e-05	1.668e-05	9.322e-05	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0	0.0002	0.0004	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	806.39	34	chr9	20414369	.	GCTGCTGCTA	G	806.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.93;DP=385;ExcessHet=0;FS=5.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.955;SOR=0.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:93:.:.:0,93,1395:.	9	0	1	0
chr9	20414378	20414378	A	0	exonic	MLLT3	.	.	.	.	1	184	35	2	4	43	0.0958231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2596.25	34	chr9	20414378	.	A	*	2596.25	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=413;ExcessHet=2.8389;FS=1.097;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.054;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:39:99:.:.:493,554,1087:.	9	0	1	0
chr9	20764921	20764921	T	G	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375570:exon6:c.T442G:p.C148G,FOCAD:NM_001375567:exon7:c.T547G:p.C183G,FOCAD:NM_001375568:exon7:c.T547G:p.C183G,FOCAD:NM_017794:exon9:c.T547G:p.C183G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.0266338301074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.7	0.12162	T	-5.63	0.86836	D	0.93	0.93487	-1.1319	0.01693	T	0.071	0.29001	T	10	0.79199314	0.78741	D	0.026634	0.49530	D	0.470	0.76421	0.605	0.73706	0.28058544554	0.27657	0.7041265014937579	0.70354	0.0259599044008	0.02653	0.624525547028	0.56368	T	.	.	.	0.20107	0.73992	D	0.051046	0.73654	D	0.96525651216507	0.67210	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.55152	B	.;.	.;.	4.569675	0.72080	25.8	0.98651290616969223	0.44192	0.96348	0.68700	D	AEFGBI	0.719497	0.67036	D	0.631674295644862	0.75189	6.261986	0.665250591126852	0.79751	7.149007	0.999999624937441	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.505000	0.66698	7.916000	0.74276	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.143	0.81351	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2225.43	46	chr9	20764921	.	T	G	2225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.521;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.121;SOR=0.696	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	9	0	1	0
chr9	20881958	20881958	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon19:c.C2300T:p.A767V,FOCAD:NM_001375570:exon19:c.C2300T:p.A767V,FOCAD:NM_001375567:exon20:c.C2405T:p.A802V,FOCAD:NM_017794:exon22:c.C2405T:p.A802V	.	435	1085	2	0	0	2	0.00092081	.	.	.	3006662	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.037	0.00308836486452	0.0038	0.00219649	0.0032	0.0010	0.0006	0	0.0048	0.0047	0.0033	0.0013	0.0032988	510	154602	rs79849792	0.0043	0.0043	0.0043	0.0043	0.0050	0.0042	0.0042	0.0049	0.0049	0.0009	0.0007	0.0003	2.52e-05	0.0049	0.0003	0.0050	0.0034	0.0015	0.0032	0.0032	0.0033	0.0031	0.0057	0.0030	0.0029	0.0052	0.0051	0.0007	0	0.0009	0.0006	0	0.0041	0	0.0057	0.0033	0.0021	0.4	0.10482	T	1.0	0.01155	T	.	.	.	.	.	.	0.950673	0.07654	N	1.019870	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.71	0.20145	N	0.088	0.10198	-0.9264	0.44659	T	0.012	0.04558	T	10	0.0031612515	0.00053	T	0.003088	0.06696	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.2831463635393905	0.28227	0.00576713169931	0.00504	0.235915049911	0.02434	T	0.015573	0.13037	T	-0.759268	0.00015	T	-0.859686	0.00846	T	0.00128080978368973	0.00013	T	0.565643	0.19997	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.;.	.;.;.	0.554943	0.09233	6.017	0.93441065259456846	0.23218	0.04944	0.10704	N	AEFBI	0.040645	0.06074	N	-1.04558351606797	0.07675	0.3573183	-0.998740363505952	0.09813	0.4904374	0.663225487454854	0.22294	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	-0.624	0.10972	0.224000	0.17520	0.021000	0.13590	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.796000	0.37562	0.0:0.328:0.0:0.672	10.394	0.43374	564	0.70960	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	361.43	33	chr9	20881958	.	C	T	361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.441;DP=353;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.991;SOR=0.582	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,870	9	0	1	0
chr9	21216762	21216762	G	T	exonic	IFNA16	.	nonsynonymous SNV	IFNA16:NM_002173:exon1:c.C544A:p.Q182K	.	423	1097	2	0	0	2	0.000910747	.	.	.	2336903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00364394466413	.	0.000199681	0.0003	0	8.637e-05	0.0003	0	8.994e-05	0.0011	0.0013	6.5e-06	1	154602	rs555988465	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	0	9.29e-05	7.671e-05	0.0003	0	0.0012	0.0001	8.312e-05	0.0010	0.0001	0.0001	9.007e-05	0.0002	0.0012	9.159e-05	7.713e-05	0.0005	0.0004	0	0	0.0005	0	0.0004	0	0	8.828e-05	0	0.0012	0.071	0.35165	T	0.216	0.26226	T	0.0	0.02946	B	0.004	0.10090	B	0.611755	0.05705	N	1.239000	1	0.08975	N	3.475	0.92503	M	3.87	0.03597	T	-2.28	0.50830	N	0.263	0.29774	-0.9279	0.44444	T	0.013	0.05081	T	10	0.021517932	0.00516	T	0.003644	0.08371	T	0.025	0.05312	0.585	0.71245	0.168933306366	0.16529	0.07639773314450858	0.07575	.	.	0.31700783968	0.12967	T	0.009931	0.09004	T	-0.546076	0.00308	T	-0.602728	0.12582	T	0.0541226295825188	0.06210	T	0.50025	0.15636	T	0.15532129	0.35110	0.094253875	0.22303	0.15532129	0.35110	0.094253875	0.22302	-5.297	0.39913	T	.	.	0.098	0.16054	B	.	.	0.254021	0.06330	2.791	0.7619835125547948	0.11372	0.01468	0.04899	N	AEFGBI	0.025142	0.01673	N	-1.01341536861832	0.08325	0.3899364	-1.13397065508646	0.07059	0.3419789	0.00143589638150968	0.08535	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.62	-0.858	0.10147	-0.189000	0.09625	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3743:0.0:0.4315:0.1942	2.968	0.05551	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2515.43	33	chr9	21216762	.	G	T	2515.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.606;DP=707;ExcessHet=0;FS=6.645;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.8;MQRankSum=-2.617;QD=10.7;ReadPosRankSum=0.754;SOR=1.107	GT:AD:DP:GQ:PL	0/0:185,0:185:99:0,120,1800	9	0	1	0
chr9	26892562	26892579	CGCTCCCGCAGCCCCCGG	-	exonic	CAAP1	.	nonframeshift deletion	CAAP1:NM_024828:exon1:c.137_154del:p.A46_S51del	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.000599042	0.0013	0.0015	0.0024	0.0011	0.0011	0.0016	0	0.0007	2.59e-05	4	154602	rs537300337	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	0.0005	0.0006	0	0.0006	0.0002	0.0017	0.0004	0.0005	0.0007	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0003	0.0006	0.0005	0.0004	0.0011	0.0010	0	0.0004	0	0	0.0004	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1217.39	42	chr9	26892561	.	ACGCTCCCGCAGCCCCCGG	A	1217.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.763;DP=392;ExcessHet=0;FS=2.207;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.74;ReadPosRankSum=-0.018;SOR=0.57	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	9	0	1	0
chr9	26947025	26947025	C	A	exonic	PLAA	.	nonsynonymous SNV	PLAA:NM_001031689:exon1:c.G21T:p.R7S,PLAA:NM_001321546:exon1:c.G21T:p.R7S	.	424	1096	2	0	0	2	0.000911577	.	.	.	1355161	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0103673828459	.	.	0.0004	0	0	0	0	5.782e-05	0.0037	0.0017	0.0001229	19	154602	rs535078633	9.476e-05	9.919e-05	6.91e-05	0.0001	0.0011	8.174e-05	7.658e-05	0.0009	0.0009	0	0	0	0	0	0	3.456e-05	0.0001	0.0011	3.282e-05	3.28e-05	2.569e-05	4.026e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0006	0.758	0.04379	T	0.821	0.03968	T	0.0	0.02946	B	0.0	0.01387	B	0.172340	0.17338	N	0.634004	0.805068	0.34563	D	0.255	0.09829	N	0.57	0.54347	T	0.8	0.01978	N	0.239	0.38335	-1.0519	0.13872	T	0.058	0.24465	T	10	0.022800535	0.00579	T	0.010367	0.26828	T	0.088	0.25558	0.348	0.34436	0.430247255452	0.42646	0.2979346367764344	0.29706	1.49482122049	0.86938	0.571303963661	0.48863	T	0.019746	0.15676	T	-0.414205	0.01864	T	-0.408286	0.32422	T	0.0540160322908074	0.06191	T	0.708229	0.32156	T	0.11885019	0.27995	0.062072106	0.12086	0.11885019	0.27994	0.062072106	0.12086	-2.748	0.07715	T	0.05081105098621103	0.00899	0.111	0.25495	B	.;.	.;.	1.741944	0.22164	15.51	0.97284308587291901	0.33200	0.24189	0.22316	N	ALL	0.077288	0.15567	N	-0.629683669231485	0.18057	0.9343951	-0.437788716189688	0.23898	1.30567	0.999999982266631	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.33	2.37	0.28337	0.094000	0.14946	0.795000	0.21604	0.531000	0.24825	0.984000	0.35821	0.999000	0.35428	0.983000	0.59808	0.24:0.3525:0.2476:0.16	1.453	0.02236	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1108.43	35	chr9	26947025	.	C	A	1108.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.857;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.45;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	9	0	1	0
chr9	26997960	26997960	A	C	exonic	LRRC19	.	nonsynonymous SNV	LRRC19:NM_022901:exon3:c.T363G:p.N121K	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00819669370919	.	.	3.297e-05	0	0	0	0	1.499e-05	0	0.0002	2.59e-05	4	154602	rs767216658	5.131e-05	5.199e-05	4.357e-05	5.914e-05	0.0010	4.192e-05	3.824e-05	0.0005	0.0003	0	0	0	2.522e-05	0	0.0010	2.068e-05	6.625e-05	0.0005	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.272	0.15930	T	1.0	0.01155	T	0.025	0.19245	B	0.033	0.22329	B	0.793261	0.09380	N	0.907335	0.756743	0.29582	N	0.01	0.07948	N	0.46	0.56281	T	-0.32	0.12283	N	0.16	0.16725	-1.0119	0.26322	T	0.059	0.24908	T	10	0.038120866	0.02210	T	0.008197	0.21725	T	0.064	0.18567	0.441	0.49648	0.308904156042	0.30501	0.1963706548840227	0.19554	0.0225708552117	0.02277	0.30185213685	0.10676	T	0.002037	0.01442	T	-0.53306	0.00368	T	-0.692962	0.06219	T	0.0158662257922626	0.00372	T	0.494051	0.15283	T	0.10818	0.25579	0.08740978	0.20316	0.10818	0.25579	0.08740978	0.20316	-3.772	0.20387	T	.	.	0.112	0.22098	B	.	.	0.727693	0.10969	7.632	0.86347260259386838	0.16475	0.15504	0.18944	N	AEI	0.166932	0.29356	N	-1.02122087750605	0.08165	0.3818439	-0.90158399682894	0.12057	0.6179952	0.00206308497381586	0.09128	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.62	1.7	0.23359	0.020000	0.13359	1.393000	0.26132	0.684000	0.82519	0.019000	0.19563	0.133000	0.23019	0.979000	0.57723	0.4446:0.0:0.067:0.4884	6.263	0.20116	496	0.76301	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1329.43	36	chr9	26997960	.	A	C	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.213;DP=407;ExcessHet=0;FS=1.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.973;SOR=0.97	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	9	0	1	0
chr9	32630387	32630387	T	G	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.A5193C:p.K1731N	.	1	1497	24	0	0	24	0.00795229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00155385102793	0.0038	0.00279553	0.0039	0.0012	0.0040	0.0001	0.0014	0.0052	0.0033	0.0029	0.0036869	570	154602	rs34241003	0.0045	0.0045	0.0046	0.0044	0.0083	0.0044	0.0044	0.0064	0.0058	0.0012	0.0039	0.0037	5.038e-05	0.0014	0.0083	0.0050	0.0060	0.0024	0.0034	0.0035	0.0034	0.0035	0.0054	0.0032	0.0031	0.0050	0.0048	0.0008	0	0.0047	0.0023	0	0.0012	0.0272	0.0054	0.0043	0.0027	0.509	0.07521	T	0.526	0.10245	T	0.659	0.40886	P	0.775	0.57058	P	.	.	.	.	0.994189	0.23570	N	-0.345	0.03330	N	3.06	0.08634	T	-0.08	0.08187	N	0.057	0.02861	-0.9455	0.41731	T	0.012	0.04700	T	9	0.0064543188	0.00146	T	0.001554	0.02445	T	0.075	0.21907	0.134	0.03833	0.273938319068	0.27005	0.2262985417603728	0.22544	0.170945335344	0.19261	0.427423834801	0.28857	T	0.007451	0.06855	T	-0.730313	0.00024	T	-0.817815	0.01497	T	0.0428091219219601	0.04203	T	0.808619	0.45852	T	0.04694278	0.07941	0.048381474	0.07172	0.04694278	0.07941	0.048381474	0.07172	-4.377	0.29244	T	.	.	0.290	0.52152	B	.	.	2.021101	0.25683	16.85	0.97050528604221098	0.32151	0.20284	0.20983	N	AEFGBI	0.058958	0.11099	N	-0.701309791986848	0.15985	0.8104591	-0.827216638688222	0.13837	0.7199188	0.224301882724681	0.18392	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.95	-0.372	0.11897	-0.079000	0.11321	4.180000	0.42331	0.260000	0.18395	0.984000	0.35821	1.000000	0.68203	0.163000	0.20749	0.0:0.6443:0.0:0.3557	3.922	0.08748	837	0.37933	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.040404	0.010870	0.011696	0.050000	0.000000	0.015244	0.000000	0.05	3966.43	33	chr9	32630387	.	T	G	3966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.958;DP=627;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-0.309;SOR=0.765	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr9	32632083	32632083	T	C	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.A3497G:p.D1166G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00250695143186	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs772948085	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.011	0.64786	D	0.945	0.53279	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.545	0.74286	M	2.06	0.20523	T	-3.29	0.65742	D	0.38	0.42149	-1.1102	0.03053	T	0.048	0.20355	T	10	0.3183853	0.49237	T	0.002507	0.05009	T	0.092	0.26621	0.292	0.25400	0.508994031223	0.50540	0.5128257355736089	0.51204	0.224960025971	0.25034	0.572577953339	0.49041	T	0.146569	0.48423	T	-0.218929	0.18139	T	-0.455398	0.27101	T	0.734108030796051	0.42424	D	0.933207	0.74971	D	0.27684668	0.50744	0.2090441	0.45233	0.27684668	0.50744	0.2090441	0.45232	-6.622	0.51221	T	.	.	0.085	0.10208	B	.	.	3.418495	0.47452	22.5	0.98749333949723916	0.45633	0.56687	0.30181	D	AEFDGBI	0.318523	0.42219	N	-0.115893215448414	0.36701	2.124927	-0.269284493234922	0.29116	1.628701	0.999987714634145	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	0.479	0.479	0.16007	5.100000	0.64395	7.720000	0.67265	0.266000	0.18458	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.0:1.0E-4:0.0:0.9999	5.196	0.14561	836	0.38045	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	7490.14	43	chr9	32632083	.	T	C	7490.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.3;DP=1152;ExcessHet=0.2348;FS=0.523;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.99;MQRankSum=0;QD=10.55;ReadPosRankSum=1.26;SOR=0.638	GT:AD:DP:GQ:PL	0/1:151,150:301:99:3628,0,3667	8	0	2	0
chr9	32632666	32632666	C	A	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G2914T:p.V972L	.	1	1495	25	1	0	27	0.00894929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00114923500467	0.0004	0.00159744	0.0011	0	0.0006	0	0.0002	0.0005	0.0022	0.0054	0.0009379	145	154602	rs55906071	0.0006	0.0006	0.0004	0.0008	0.0053	0.0005	0.0005	0.0049	0.0047	5.974e-05	0.0003	0.0005	0	1.872e-05	0.0012	0.0003	0.0008	0.0053	0.0005	0.0005	0.0003	0.0008	0.0068	0.0004	0.0004	0.0050	0.0044	2.406e-05	0	0.0003	0.0003	0	0	0.0034	0.0005	0.0005	0.0068	0.251	0.17069	T	0.39	0.15506	T	0.774	0.44062	P	0.688	0.53700	P	0.000065	0.52346	D	0.128609	0.991491	0.41402	D	1.39	0.34934	L	2.54	0.13916	T	-1.72	0.40850	N	0.214	0.23884	-1.0907	0.05416	T	0.040	0.17106	T	10	0.011918902	0.00258	T	0.001149	0.01434	T	0.076	0.22200	0.33	0.31519	0.434497104326	0.43071	0.5761475823034826	0.57543	0.160340197242	0.18093	0.434875428677	0.29876	T	0.024099	0.18273	T	-0.586404	0.00176	T	-0.614289	0.11639	T	0.0889325541787246	0.11090	T	0.978502	0.92407	D	0.088748306	0.20713	0.084431216	0.19421	0.088748306	0.20713	0.084431216	0.19421	-10.86	0.78884	D	.	.	0.246	0.48008	B	.	.	4.105717	0.61250	24.3	0.98614182156046493	0.43677	0.50292	0.28629	D	AEFBI	0.231861	0.35502	N	-0.0545285893600003	0.39400	2.322896	-0.160507617366261	0.33005	1.883559	0.95158353292811	0.27966	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	1.04	-0.0542	0.13145	3.648000	0.54150	7.452000	0.58971	0.243000	0.18268	0.996000	0.39380	1.000000	0.68203	0.913000	0.44837	0.0:0.7269:0.0:0.2731	4.943	0.13327	836	0.38045	Transcription initiation factor TFIID subunit 1, domain of unknown function	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	1757.43	43	chr9	32632666	.	C	A	1757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=518;ExcessHet=0;FS=6.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.194;SOR=0.555	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr9	32634813	32634813	C	G	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.G767C:p.G256A	.	1	1509	12	0	0	12	0.0039604	.	.	.	2828838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.092	.	0.0056	0.00339457	0.0068	0.0013	0.0010	0	0.0259	0.0086	0.0132	0.0030	0.0066687	1031	154602	rs55991718	0.0076	0.0076	0.0077	0.0076	0.0080	0.0075	0.0075	0.0079	0.0078	0.0014	0.0015	0.0031	2.519e-05	0.0253	0.0021	0.0080	0.0055	0.0040	0.0068	0.0068	0.0061	0.0076	0.0090	0.0065	0.0063	0.0085	0.0082	0.0015	0	0.0016	0.0063	0	0.0266	0	0.0090	0.0052	0.0042	0.028	0.46129	D	0.037	0.51737	D	0.151	0.28027	B	0.04	0.23831	B	0.000000	0.84330	N	0.052112	0.999667	0.48141	D	2.455	0.71248	M	3.02	0.08986	T	-3.29	0.65742	D	0.29	0.32812	-1.0664	0.10223	T	0.012	0.04747	T	10	0.006072521	0.00136	T	.	.	.	0.092	0.26621	.	.	0.411001663086	0.40716	0.36905587412701624	0.36819	0.173944268882	0.19586	0.420082181692	0.27847	T	0.238464	0.60636	T	-0.556626	0.00266	T	-0.56437	0.15969	T	0.0595602123796396	0.07099	T	0.970703	0.89491	D	0.25123996	0.48131	0.20725717	0.44977	0.25123996	0.48131	0.20725717	0.44976	-11.734	0.83532	D	.	.	0.295	0.52582	B	.	.	3.265755	0.44684	22.0	0.96158345794661948	0.28890	0.74270	0.36330	D	AEFDGBI	0.395272	0.47220	N	-0.291553724954087	0.29472	1.634758	-0.320175729517094	0.27448	1.523109	0.992585134461447	0.32893	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.04	1.04	0.19220	5.212000	0.65058	7.398000	0.58557	0.243000	0.18268	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	7.486	0.26601	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	4604.43	43	chr9	32634813	.	C	G	4604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.336;DP=721;ExcessHet=0;FS=1.299;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=1.08;QD=14;ReadPosRankSum=-0.192;SOR=0.77	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr9	33385707	33385707	G	A	exonic	AQP7	.	nonsynonymous SNV	AQP7:NM_001318156:exon6:c.C514T:p.R172W,AQP7:NM_001170:exon7:c.C685T:p.R229W,AQP7:NM_001318157:exon7:c.C682T:p.R228W,AQP7:NM_001318158:exon7:c.C685T:p.R229W,AQP7:NM_001376192:exon7:c.C685T:p.R229W,AQP7:NM_001376191:exon8:c.C685T:p.R229W,AQP7:NM_001376193:exon8:c.C685T:p.R229W	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0556443499188	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780270047	1.095e-05	1.163e-05	5.446e-06	1.65e-05	8.117e-05	6.48e-06	5.25e-06	3.766e-05	2.662e-05	0	0	0	2.519e-05	0	0	6.295e-06	1.657e-05	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.59928	D	0.0	0.92824	D	0.993	0.65571	D	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.59	0.89822	D	-7.23	0.94647	D	0.967	0.99670	0.894	0.95597	D	0.869	0.95650	D	10	0.983021	0.98414	D	0.055644	0.66311	D	0.798	0.93385	0.932	0.98960	0.957236149316	0.95678	.	.	0.208655571552	0.23333	0.628125548363	0.56879	T	0.85264	0.98749	D	0.418009	0.90915	D	0.362665	0.90801	D	0.985361278057098	0.76380	D	0.914409	0.77406	D	0.95482266	0.96755	0.87697804	0.93351	0.95482266	0.96756	0.87697804	0.93351	-14.072	0.93288	D	.	.	0.698	0.80723	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.028375	0.83620	28.1	0.9990724773047841	0.97726	0.81915	0.41226	D	AEFBI	0.886099	0.81719	D	0.743709486971878	0.82493	7.776548	0.623892025242675	0.76680	6.535628	0.985140848964622	0.30836	0.568482	0.32641	0	0.55458	0.17659	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.04	4.07	0.46726	1.586000	0.36221	7.180000	0.57747	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.7051:0.2949	10.023	0.41227	522	0.74218	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1745.43	39	chr9	33385707	.	G	A	1745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=505;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=-1.076;QD=10.51;ReadPosRankSum=-0.661;SOR=0.742	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	9	0	1	0
chr9	33558146	33558146	C	A	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon12:c.C2230A:p.Q744K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0174954639466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41096	T	0.698	0.11515	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.215	0.62545	M	1.67	0.27331	T	-2.46	0.57275	N	0.161	0.16864	-0.9792	0.35186	T	0.069	0.28280	T	5	0.12192336	0.23122	T	0.017495	0.39223	T	0.019	0.03383	0.289	0.24921	0.173771789658	0.16945	0.10607044275225361	0.10537	0.0626521362134	0.06974	0.546799838543	0.45406	T	0.013752	0.25240	T	-0.240538	0.15279	T	-0.583293	0.14251	T	0.161680226188952	0.17995	T	0.744226	0.36418	T	0.17316288	0.38048	0.10656882	0.25640	0.17316288	0.38048	0.10656882	0.25639	-3.209	0.12591	T	.	.	0.079	0.07507	B	.;.	.;.	1.294749	0.16958	12.87	0.80301428392465712	0.13139	0.00534	0.02469	N	AEFI	0.022444	0.01122	N	-0.670497847955021	0.16865	0.8630429	-0.869699272896165	0.12815	0.6613781	2.21869176196833E-4	0.06048	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.72	0.591	0.16648	0.041000	0.13813	-1.280000	0.05829	0.282000	0.18639	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.5162:0.4838:0.0	6.107	0.19303	712	0.56465	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1252.43	43	chr9	33558146	.	C	A	1252.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.821;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.49;MQRankSum=0.49;QD=10.89;ReadPosRankSum=-0.604;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr9	33575200	33575200	C	A	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon20:c.C3305A:p.P1102H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252162413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0060	0.0007	0.0008	0.0020	0.0006	0.0006	0.0016	0.0015	0.0020	0	0.0005	0	0	0.0006	0	0.0002	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	37.36	1	chr9	33575200	.	C	A	37.36	.	AC=2;AF=0.143;AN=14;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=50.99;QD=18.68;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,84	6	1	0	3
chr9	33575254	33575254	C	T	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon20:c.C3359T:p.S1120F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375242583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0084	0.0007	0.0008	0.0021	0.0006	0.0006	0.0017	0.0016	0.0021	0	0.0004	0.0003	0	0.0005	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	36.24	3	chr9	33575254	.	C	T	36.24	.	AC=2;AF=0.143;AN=14;DP=15;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=50.99;QD=18.12;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	6	1	0	3
chr9	33794791	33794799	GATGCACAT	-	exonic	PRSS3	.	startloss	PRSS3:NM_001197097:exon2:c.1_8del:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.877e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs767844335	5.006e-06	4.788e-06	0	1.015e-05	7.573e-05	2.08e-06	1.34e-06	3.216e-05	2.182e-05	0	0	0	0	0	0	9.268e-07	0	7.573e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2039.39	36	chr9	33794790	.	GGATGCACAT	G	2039.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.64;MQRankSum=2.1;QD=17.28;ReadPosRankSum=1.84;SOR=0.626	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	9	0	1	0
chr9	33922970	33922970	G	A	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001282530:exon11:c.C785T:p.T262I,UBAP2:NM_001370067:exon25:c.C2909T:p.T970I,UBAP2:NM_001370064:exon26:c.C2795T:p.T932I,UBAP2:NM_001370068:exon26:c.C2954T:p.T985I,UBAP2:NM_001370059:exon27:c.C3068T:p.T1023I,UBAP2:NM_001370062:exon27:c.C3068T:p.T1023I,UBAP2:NM_018449:exon27:c.C3068T:p.T1023I,UBAP2:NM_001370066:exon28:c.C2954T:p.T985I	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0293956563523	7.7e-05	0.000599042	0.0004	0	8.643e-05	0.0001	0	4.496e-05	0.0022	0.0023	0.0003169	49	154602	rs374181118	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0.0002	0	0	0	0.0010	4.047e-05	0.0002	0.0025	9.853e-05	9.843e-05	6.426e-05	0.0001	0.0023	6.004e-05	4.878e-05	0.0013	0.0010	0	0	6.535e-05	0	0	0	0.0034	1.471e-05	0.0005	0.0023	0.15	0.24661	T	0.004	0.74150	D	0.808	0.45299	P	0.245	0.38823	B	0.000000	0.84330	D	0.089152	0.999962	0.54805	D	2.54	0.74080	M	1.03	0.40469	T	-4.89	0.81431	D	0.718	0.77226	-0.8423	0.52493	T	0.150	0.47699	T	10	0.024849951	0.00699	T	0.029396	0.51914	D	0.235	0.53788	.	.	0.082315109003	0.07666	0.3981630486624566	0.39731	0.069739081676	0.07810	0.737867593765	0.72659	T	0.214892	0.57661	T	-0.321923	0.06741	T	-0.241054	0.50694	T	0.191613644361496	0.19939	T	0.950005	0.80823	D	0.39522016	0.60400	0.27080792	0.52975	0.39522016	0.60400	0.27080792	0.52974	-9.128	0.71188	D	.	.	0.299	0.57136	B	.;.;.	.;.;.	3.630483	0.51428	23.1	0.98849069210958163	0.47254	0.99374	0.95195	D	AEFDGBCI	0.784285	0.71502	D	0.161616098114796	0.49364	3.137572	0.168237933955054	0.48116	3.031985	0.999999999993714	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.72	4.82	0.61641	6.141000	0.71499	5.793000	0.49883	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0:0.8649:0.1351	16.085	0.80851	302	0.87871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1305.43	34	chr9	33922970	.	G	A	1305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.201;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-2.63;SOR=0.649	GT:AD:DP:GQ:PL	0/1:53,60:113:99:1317,0,1136	9	0	1	0
chr9	33933509	33933509	G	A	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon16:c.C1930T:p.P644S,UBAP2:NM_001370064:exon17:c.C1816T:p.P606S,UBAP2:NM_001370068:exon17:c.C1975T:p.P659S,UBAP2:NM_001370059:exon18:c.C2089T:p.P697S,UBAP2:NM_001370062:exon18:c.C2089T:p.P697S,UBAP2:NM_018449:exon18:c.C2089T:p.P697S,UBAP2:NM_001370066:exon19:c.C1975T:p.P659S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00920684767356	.	.	8.307e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs748790054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.624	0.07342	T	0.038	0.21002	B	0.018	0.18489	B	0.136176	0.18456	N	0.591114	0.959158	0.42773	D	1.04	0.26193	L	2.72	0.11947	T	-0.38	0.13418	N	0.207	0.22998	-1.0227	0.22834	T	0.022	0.09421	T	10	0.056187093	0.06260	T	0.009207	0.24201	T	0.029	0.06676	0.162	0.06618	0.082315109003	0.07666	0.27454698598463984	0.27367	0.065937270336	0.07352	0.346179127693	0.17358	T	0.00984	0.08928	T	-0.239374	0.15428	T	-0.581621	0.14401	T	0.113419587679526	0.13775	T	0.535446	0.17943	T	0.023461385	0.01089	0.036313135	0.03054	0.023461385	0.01088	0.036313135	0.03053	-0.542	0.00610	T	.	.	0.060	0.00904	B	.;.	.;.	2.028936	0.25788	16.89	0.61923326025492353	0.06831	0.77224	0.37946	D	AEFDBCI	0.112679	0.22262	N	-0.453212358814593	0.23631	1.270371	-0.288401299539993	0.28480	1.588256	0.999726218140238	0.42220	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.54	3.46	0.38718	1.586000	0.36221	3.294000	0.37329	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.732000	0.35165	0.337:0.0:0.663:0.0	6.238	0.19985	306	0.87689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	34	chr9	33933509	.	G	A	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.76;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.162;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1254	9	0	1	0
chr9	33948525	33948525	G	C	exonic	UBAP2	.	nonsynonymous SNV	UBAP2:NM_001370067:exon11:c.C960G:p.S320R,UBAP2:NM_001370064:exon12:c.C846G:p.S282R,UBAP2:NM_001370068:exon12:c.C1005G:p.S335R,UBAP2:NM_001370059:exon13:c.C1119G:p.S373R,UBAP2:NM_001370062:exon13:c.C1119G:p.S373R,UBAP2:NM_018449:exon13:c.C1119G:p.S373R,UBAP2:NM_001370066:exon14:c.C1005G:p.S335R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0117167216707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.992	0.64738	D	0.858	0.61127	P	0.000045	0.53742	D	0.227351	0.999683	0.21738	N	2.14	0.59869	M	2.75	0.30133	T	-2.07	0.47344	N	0.314	0.35832	-1.0758	0.08184	T	0.052	0.21921	T	10	0.09869671	0.17862	T	0.011717	0.29625	T	0.154	0.40340	0.21	0.12781	0.043077524339	0.03247	0.15786572707082136	0.15707	0.368701807779	0.38416	0.371518909931	0.21050	T	0.035712	0.23823	T	-0.119701	0.33173	T	-0.409718	0.32258	T	0.459938959825638	0.31163	T	0.878312	0.59309	D	0.28908145	0.51906	0.21148041	0.45578	0.28908145	0.51906	0.21148041	0.45577	-8.345	0.63398	D	.	.	0.403	0.63623	A	.;.;.	.;.;.	2.598264	0.33719	19.42	0.99224859384690178	0.56026	0.47817	0.28068	N	AEFBI	0.120560	0.23480	N	-0.458283979640678	0.23460	1.25998	-0.468055066319641	0.23038	1.254393	0.999403255582671	0.39524	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.17	0.252	0.14804	-0.264000	0.08683	0.425000	0.18262	-0.244000	0.07312	0.237000	0.24716	0.953000	0.29079	0.973000	0.55318	0.4908:0.2143:0.1804:0.1145	2.488	0.04323	300	0.87974	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1232.43	34	chr9	33948525	.	G	C	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.218;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=1.21;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1107	9	0	1	0
chr9	34093402	34093402	G	A	exonic	DCAF12	.	nonsynonymous SNV	DCAF12:NM_015397:exon7:c.C908T:p.A303V	.	424	1081	16	1	0	18	0.00825688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	.	0.0002	0.00399361	0.0022	0	0.0008	0	0	0.0004	0.0022	0.0139	0.001934	299	154602	rs149115505	0.0010	0.0010	0.0006	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	5.974e-05	0.0002	3.826e-05	0	0	0.0019	0.0002	0.0011	0.0138	0.0006	0.0006	0.0003	0.0009	0.0133	0.0005	0.0005	0.0107	0.0097	4.811e-05	0	0.0005	0	0	0	0	0.0002	0	0.0133	0.007	0.59928	D	0.013	0.63109	D	0.633	0.40250	P	0.118	0.32088	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	-0.27	0.67367	T	-2.12	0.48184	N	0.921	0.92433	-0.4600	0.70067	T	0.276	0.64814	T	10	0.012073249	0.00261	T	.	.	.	0.471	0.76487	.	.	0.810726899296	0.80895	0.6850247409028064	0.68441	1.03043029366	0.75413	0.832992434502	0.87021	D	0.209426	0.56964	T	0.00687563	0.52599	T	0.248131	0.85529	D	0.0712406606931485	0.08824	T	0.960304	0.85063	D	0.2813473	0.51177	0.2866694	0.54676	0.2813473	0.51177	0.2866694	0.54675	-8.042	0.61356	D	.	.	0.817	0.78094	P	.	.	4.493645	0.70214	25.5	0.99857932726301568	0.93639	0.99295	0.94095	D	AEFDBI	0.909636	0.86652	D	0.533704854304489	0.69097	5.308765	0.627181203696604	0.76920	6.580939	0.999999999946936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	9.225000	0.94383	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	17.868	0.88717	401	0.82673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.15	4120.45	36	chr9	34093402	.	G	A	4120.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.601;DP=613;ExcessHet=0.7463;FS=5.481;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.184;SOR=0.964	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1275	7	0	3	0
chr9	34251476	34251476	A	G	exonic	UBAP1	.	nonsynonymous SNV	UBAP1:NM_001171201:exon6:c.A1645G:p.N549D,UBAP1:NM_001171202:exon6:c.A1561G:p.N521D,UBAP1:NM_016525:exon7:c.A1453G:p.N485D,UBAP1:NM_001171203:exon8:c.A1453G:p.N485D,UBAP1:NM_001171204:exon8:c.A1453G:p.N485D	.	435	1086	1	0	0	1	0.000460193	.	.	.	2828847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.218	0.0193239535541	.	0.000599042	0.0004	9.639e-05	0	0	0	0	0	0.0028	0.0003299	51	154602	rs556099212	0.0002	0.0002	8.984e-05	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	2.987e-05	0	0	0	0	0	0	8.279e-05	0.0031	0.0001	0.0001	5.139e-05	0.0002	0.0037	8.659e-05	7.252e-05	0.0024	0.0020	2.406e-05	0	0	0	0.0002	0	0	0	0	0.0037	0.076	0.91255	T	0.024	0.56640	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	0.81	0.48460	T	-1.42	0.43334	N	0.566	0.61002	-0.5609	0.66369	T	0.289	0.66036	T	10	0.014995098	0.00315	T	0.019324	0.41651	T	0.218	0.51265	0.314	0.28935	0.353785824208	0.34994	0.33639924300072716	0.33552	.	.	0.834044098854	0.87183	D	0.149052	0.48789	T	-0.327717	0.06285	T	-0.247823	0.50032	T	0.163017425427807	0.18092	T	0.824218	0.48580	T	0.5057648	0.67432	0.49321252	0.70687	0.5057648	0.67433	0.49321252	0.70687	-7.722	0.59161	D	.	.	0.151	0.36574	B	.;.;.;.;.	.;.;.;.;.	4.709678	0.75645	26.4	0.99754275478673504	0.84537	0.97390	0.74445	D	AEFBCI	0.938912	0.93879	D	0.763235638969431	0.83765	8.103638	0.776225973334792	0.88097	9.455806	0.999999999999838	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	8.947000	0.92735	9.392000	0.80586	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.155	0.81470	293	0.88320	.;Ubiquitin-associated domain;.;Ubiquitin-associated domain;Ubiquitin-associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1029.43	36	chr9	34251476	.	A	G	1029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.229;DP=430;ExcessHet=0;FS=2.384;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=1.06;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1200	9	0	1	0
chr9	34255997	34255997	G	T	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon11:c.C3610A:p.P1204T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.0102272361612	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs558971996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.39820	T	0.617	0.09457	T	0.01	0.15535	B	0.005	0.11217	B	0.421915	0.12859	N	0.678993	1	0.08975	N	1.15	0.29295	L	-0.37	0.71662	T	-1.86	0.43524	N	0.104	0.20129	-0.9880	0.33102	T	0.178	0.52412	T	9	0.08868641	0.15293	T	0.010227	0.26522	T	0.037	0.09474	0.243	0.17677	0.681193236035	0.67848	0.2623196018584617	0.26144	.	.	0.266021132469	0.05629	T	0.006291	0.05726	T	-0.191921	0.21977	T	-0.513457	0.20959	T	0.0352940457947646	0.02858	T	0.636336	0.25008	T	0.041654427	0.06175	0.04743613	0.06833	0.041654427	0.06174	0.04743613	0.06833	-3.655	0.18656	T	.	.	0.080	0.11510	B	.;.	.;.	1.587537	0.20311	14.69	0.90305367972419082	0.19572	0.15444	0.18915	N	AEFDBCI	0.067945	0.13382	N	-0.773755104010767	0.13996	0.6937061	-0.776134004979361	0.15080	0.7913657	0.999936061149143	0.46732	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	4.44	1.56	0.22423	1.303000	0.33075	2.521000	0.33121	0.676000	0.76740	0.128000	0.23311	0.996000	0.32793	0.313000	0.24807	0.2135:0.0:0.5807:0.2058	3.357	0.06756	294	0.88270	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1775.43	33	chr9	34255997	.	G	T	1775.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.353;DP=493;ExcessHet=0;FS=3.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-0.155;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1195	9	0	1	0
chr9	34311196	34311196	G	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.C151T:p.R51C	.	439	1082	1	0	0	1	0.000461894	.	.	.	737109	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.330	.	0.0078	0.0061901	0.0025	0.0272	0.0017	0.0001	0.0002	0.0001	0.0012	0.0001	0.0022121	342	154602	rs111556715	0.0008	0.0008	0.0009	0.0007	0.0255	0.0008	0.0007	0.0240	0.0235	0.0255	0.0016	0	2.519e-05	3.746e-05	0.0010	0.0001	0.0016	0.0001	0.0069	0.0069	0.0070	0.0068	0.0244	0.0066	0.0064	0.0232	0.0227	0.0244	0	0.0014	0	0	0.0002	0.0068	7.353e-05	0.0038	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.001016	0.40652	N	0.000000	0.999866	0.52935	D	1.04	0.26193	L	2.58	0.13434	T	-5.6	0.89985	D	0.666	0.67477	-1.1651	0.00640	T	0.027	0.11397	T	10	0.009183645	0.00207	T	.	.	.	0.330	0.65226	.	.	0.772208786841	0.77012	0.7323753136800658	0.73182	.	.	0.72260928154	0.70427	T	0.157446	0.50005	T	-0.420628	0.01694	T	-0.358056	0.38278	T	0.0585444750364075	0.06937	T	0.964704	0.86917	D	0.5763813	0.71410	0.5984375	0.76678	0.5763813	0.71411	0.5984375	0.76679	-10.076	0.74366	D	.	.	0.471	0.73095	A	.;.	.;.	5.277315	0.88614	29.7	0.99940592645256632	0.99767	0.96378	0.68846	D	AEFBI	0.774573	0.70824	D	0.675636878474257	0.78035	6.791357	0.707150885026823	0.82922	7.888542	0.999999999942524	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.48	5.48	0.80675	7.272000	0.77907	9.877000	0.82171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.350	0.94368	227	0.91186	Sterile alpha motif domain|Sterile alpha motif domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.005051	0.009511	0.002924	0.000000	0.008621	0.000000	0.000000	0.1	1992.14	43	chr9	34311196	.	G	A	1992.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.74;DP=493;ExcessHet=0.2348;FS=0.565;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.2;SOR=0.768	GT:AD:DP:GQ:PL	0/1:57,49:106:99:1279,0,1428	8	0	2	0
chr9	34371187	34371187	G	T	exonic	MYORG	.	nonsynonymous SNV	MYORG:NM_020702:exon2:c.C1757A:p.A586D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.788	0.0651952152092	.	.	1.933e-05	0	0	0	0	1.751e-05	0	6.604e-05	1.29e-05	2	154602	rs764986395	4.8e-06	5.472e-06	4.092e-06	5.516e-06	0.0003	2e-06	1.28e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	9.007e-07	0	4.649e-05	6.563e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.008	0.67890	D	0.975	0.58077	D	0.795	0.57940	P	0.000070	0.52346	D	0.167236	0.999817	0.49394	D	.	.	.	.	.	.	.	.	.	0.766	0.76388	0.633	0.92323	D	0.801	0.93280	D	10	0.9031193	0.89674	D	0.065195	0.69505	D	0.788	0.92988	0.744	0.87570	0.497547018531	0.49389	0.9311420872476007	0.93093	1.70097506575	0.90296	0.581189155579	0.50253	T	0.693982	0.91128	D	0.179122	0.71962	D	0.22312	0.84331	D	0.936030507087708	0.60470	D	0.927907	0.73422	D	0.931374	0.94375	0.8455174	0.91204	0.931374	0.94375	0.8455174	0.91205	-14.806	0.95381	D	0.6483688178186401	0.72014	0.931	0.85090	P	.	.	5.320237	0.89297	29.9	0.99586427274130773	0.73336	0.96629	0.70104	D	AEFDBHCI	0.922880	0.89852	D	0.668495766729787	0.77570	6.700222	0.653155233828122	0.78847	6.959097	0.999999999998104	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	8.190000	0.89672	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.055	0.89288	263	0.89692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	2954.43	37	chr9	34371187	.	G	T	2954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.212;DP=458;ExcessHet=0;FS=2.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.42;ReadPosRankSum=0.287;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,74:121:99:0|1:34371187_G_T:2966,0,1747:34371187	9	0	1	0
chr9	34371188	34371188	C	T	exonic	MYORG	.	nonsynonymous SNV	MYORG:NM_020702:exon2:c.G1756A:p.A586T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.025866675434	.	.	1.941e-05	0	0	0	0	1.758e-05	0	6.629e-05	1.29e-05	2	154602	rs376952902	5.487e-06	8.209e-06	5.457e-06	5.517e-06	0.0003	2.36e-06	1.71e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.801e-06	0	4.651e-05	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.115	0.36630	T	0.304	0.32663	B	0.159	0.34693	B	0.000070	0.52346	D	0.167236	0.995382	0.42667	D	.	.	.	.	.	.	.	.	.	0.275	0.31140	-0.0828	0.80492	T	0.576	0.84707	D	10	0.252778	0.42636	T	0.025867	0.48816	D	0.389	0.70521	0.46	0.52753	0.357313475932	0.35345	0.6624824112905076	0.66185	1.18304341311	0.80068	0.481098234653	0.36208	T	0.254383	0.62503	T	-0.0774799	0.40123	T	-0.349071	0.39312	T	0.657243728637695	0.38775	D	0.937106	0.76374	D	0.13589452	0.31524	0.2643942	0.52258	0.13589452	0.31523	0.2643942	0.52257	-7.534	0.57849	D	0.16988942408989954	0.21330	0.126	0.26794	B	.	.	4.183733	0.63000	24.5	0.97637487529322975	0.35057	0.90707	0.52109	D	AEFDBHCI	0.523728	0.54721	D	0.0443805760774219	0.43884	2.672757	0.184324478874152	0.48988	3.10756	0.999999993963959	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.683762	0.67416	0	.	.	5.35	5.35	0.76297	5.435000	0.66282	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.2783:0.7217:0.0:0.0	11.838	0.51613	263	0.89692	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2954.43	37	chr9	34371188	.	C	T	2954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.637;DP=457;ExcessHet=0;FS=2.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.42;ReadPosRankSum=0.093;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,74:121:99:0|1:34371187_G_T:2966,0,1747:34371187	9	0	1	0
chr9	34621499	34621499	G	A	exonic	ARID3C	.	nonsynonymous SNV	ARID3C:NM_001017363:exon7:c.C1198T:p.P400S,ARID3C:NM_001371945:exon7:c.C1015T:p.P339S	.	.	.	.	.	.	.	.	.	.	.	2677834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.00656921507214	.	.	0.0002	0.0005	8.811e-05	0	0	0.0002	0	6.151e-05	0.0001488	23	154602	rs199739092	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	4.278e-05	0	0	0	0.0001	0.0002	2.706e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.714e-05	0.0002	0.0001	0.0001	0	0	0	0	0	0	0.0003	0	0.0002	0.51	0.07497	T	0.158	0.31629	T	0.056	0.22806	B	0.014	0.16862	B	0.009227	0.30456	N	0.155971	0.974633	0.25480	N	0.98	0.24916	L	0.98	0.42122	T	-0.31	0.12099	N	0.336	0.37717	-1.0309	0.20163	T	0.070	0.28609	T	10	0.038083166	0.02204	T	0.006569	0.17329	T	0.027	0.05988	.	.	0.136095386433	0.13204	0.5601326404005851	0.55940	0.259062600134	0.28458	0.362723618746	0.19782	T	0.005834	0.05277	T	-0.446624	0.01182	T	-0.571905	0.15275	T	0.0125002940244806	0.00207	T	0.439156	0.12095	T	0.026706196	0.01762	0.0449812	0.05950	0.026706196	0.01761	0.0449812	0.05949	-3.581	0.17582	T	.	.	0.065	0.02012	B	.	.	2.015368	0.25606	16.82	0.88807300849920301	0.18271	0.78565	0.38780	D	AEFBI	0.267259	0.38400	N	-0.546513702464111	0.20592	1.086735	-0.413169338584387	0.24610	1.348617	0.999969654075069	0.48965	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.37	3.47	0.38831	-0.041000	0.12036	6.304000	0.55418	-0.124000	0.13482	0.001000	0.13787	1.000000	0.68203	0.894000	0.43146	0.1088:0.0:0.8912:0.0	8.373	0.31587	270	0.89404	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	655.43	34	chr9	34621499	.	G	A	655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.499;DP=361;ExcessHet=0;FS=2.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.864;SOR=0.43	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	9	0	1	0
chr9	34726528	34726528	T	C	exonic	FAM205A	.	nonsynonymous SNV	FAM205A:NM_001141917:exon4:c.A712G:p.T238A	.	424	1097	1	0	0	1	0.000455581	.	.	.	3326544	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	0.00604398013769	.	.	0.0002	0	0	0	0	0	0	0.0006	3.23e-05	5	154602	rs764847312	7.788e-05	7.456e-05	3.666e-05	0.0001	0.0013	6.596e-05	6.134e-05	0.0011	0.0010	0	0	0	0	0	0	0	0.0001	0.0013	3.945e-05	3.94e-05	2.57e-05	5.384e-05	0.0012	1.716e-05	1.13e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.054	0.38633	T	0.329	0.18617	T	0.0	0.02946	B	0.001	0.04355	B	0.000125	0.00470	N	728.057000	1	0.08975	N	1.04	0.26193	L	1.95	0.22474	T	-0.15	0.09297	N	0.05	0.02179	-1.0315	0.19970	T	0.029	0.12365	T	10	0.010376424	0.00231	T	0.006044	0.15787	T	0.010	0.01040	0.075	0.00517	0.0138822411134	0.00435	0.0565126623422497	0.05592	.	.	0.336626529694	0.15932	T	0.007316	0.06733	T	-0.648299	0.00074	T	-0.754454	0.03315	T	0.0719499998625385	0.08922	T	0.128487	0.01008	T	0.033940427	0.03713	0.041004382	0.04563	0.033940427	0.03713	0.041004382	0.04563	-3.295	0.13673	T	.	.	0.088	0.11845	B	.	.	0.437334	0.08075	4.801	0.24613991951690209	0.01097	0.00707	0.02997	N	AEFBI	0.019001	0.00622	N	-1.45112467301634	0.02207	0.09722664	-1.5148614935768	0.02230	0.1022205	0.239255761967438	0.18552	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.85	-3.47	0.04452	-0.618000	0.05674	-4.187000	0.02293	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4115:0.169:0.4195	5.195	0.14556	458	0.78890	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1479.43	132	chr9	34726528	.	T	C	1479.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.29;DP=794;ExcessHet=0;FS=7.641;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.61;MQRankSum=-1.15;QD=13.96;ReadPosRankSum=-0.098;SOR=1.39	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	9	0	1	0
chr9	35095097	35095097	C	T	exonic	PIGO	.	nonsynonymous SNV	PIGO:NM_032634:exon2:c.G469A:p.A157T,PIGO:NM_152850:exon2:c.G469A:p.A157T,PIGO:NM_001201484:exon3:c.G469A:p.A157T	Hyperphosphatasia with mental retardation syndrome 2, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	370423	not_provided|Hyperphosphatasia_with_intellectual_disability_syndrome_2	MedGen:C3661900|MONDO:MONDO:0013882,MedGen:C3553637,OMIM:614749,Orphanet:247262	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.182	0.0148139633359	.	0.000998403	0.0006	0	0	0	0	3.042e-05	0	0.0050	0.000511	79	154602	rs542399310	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	5.633e-05	0.0002	1.26e-05	0.0002	0.0030	0.0001	0.0001	7.709e-05	0.0002	0.0041	9.738e-05	8.253e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.197	0.37750	T	0.153	0.40110	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.915	0.51223	L	1.5	0.31205	T	-2.66	0.56945	D	0.654	0.66443	-0.9987	0.30283	T	0.181	0.52889	T	10	0.009331405	0.00211	T	0.014814	0.35167	T	0.182	0.45420	0.403	0.43408	0.58943113394	0.58618	0.858886199283449	0.85851	0.361238998414	0.37780	0.598530769348	0.52697	T	0.072012	0.34349	T	-0.244001	0.14843	T	-0.124105	0.61464	T	0.213010385181029	0.21110	T	0.964804	0.87634	D	0.13810304	0.31952	0.18763627	0.42008	0.13810304	0.31952	0.18763627	0.42007	-6.982	0.53902	T	0.4662203555115896	0.54751	0.085	0.09965	B	.;.;.	.;.;.	3.835499	0.55468	23.6	0.99907517460362316	0.97801	0.95937	0.66801	D	AEFBCI	0.737393	0.68260	D	0.568738651955023	0.71228	5.619382	0.62777872688054	0.76964	6.589266	1.0	0.98316	0.651	0.46895	0	0.587265	0.34161	0	0.643519	0.47002	0	0.683762	0.67416	0	.	.	5.93	5.93	0.95888	6.034000	0.70575	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	20.354	0.98826	115	0.95340	.;.;GPI ethanolamine phosphate transferase 3, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	900.43	37	chr9	35095097	.	C	T	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.919;DP=372;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.11;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,982	9	0	1	0
chr9	35106372	35106372	G	T	exonic	FAM214B	.	nonsynonymous SNV	FAM214B:NM_001317991:exon6:c.C1098A:p.H366Q,FAM214B:NM_025182:exon6:c.C1098A:p.H366Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00247845623849	.	0.000798722	0.0006	0	0	0	0	0	0	0.0044	0.0005045	78	154602	rs375896383	0.0003	0.0003	0.0001	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	0	0	0	0	0	0	2.698e-06	0.0002	0.0050	0.0001	0.0001	6.424e-05	0.0002	0.0037	7.572e-05	6.277e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.714	0.03996	T	0.721	0.05327	T	0.0	0.02946	B	0.001	0.04355	B	0.000377	0.45194	N	0.266582	0.776638	0.34216	D	-1.735	0.00332	N	.	.	.	-0.46	0.14978	N	0.087	0.16447	-1.0129	0.26007	T	0.073	0.29643	T	9	0.00564602	0.00125	T	0.002478	0.04925	T	0.082	0.23913	0.176	0.08257	0.0806252709748	0.07271	0.28408984465254067	0.28321	0.22207748143	0.24744	0.506524026394	0.39737	T	0.007309	0.06724	T	-0.553682	0.00277	T	-0.567286	0.15699	T	0.047731001463277	0.05096	T	0.536546	0.18022	T	0.077372424	0.17556	0.085461676	0.19735	0.077372424	0.17555	0.085461676	0.19735	-3.664	0.18788	T	.	.	0.097	0.25817	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.590910	0.33606	19.39	0.89561245236850373	0.18902	0.88565	0.48552	D	AEFDBI	0.308357	0.41497	N	-0.424193123546793	0.24624	1.330879	-0.185873972854565	0.32054	1.819941	0.999367833473846	0.39301	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.38	4.47	0.53770	1.237000	0.32298	4.520000	0.43683	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.3883:0.6117:0.0	14.873	0.70108	144	0.94257	.;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210;Domain of unknown function DUF4210|Domain of unknown function DUF4210	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1702.43	38	chr9	35106372	.	G	T	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.488;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1241	9	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E,UNC13B:NM_001371186:exon8:c.C714A:p.D238E,UNC13B:NM_001371189:exon8:c.C714A:p.D238E,UNC13B:NM_006377:exon8:c.C714A:p.D238E	.	435	1048	37	2	0	41	0.0191858	.	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.025253	0.033967	0.014620	0.050000	0.017241	0.018293	0.015152	0.05	1676.43	34	chr9	35295883	.	C	A	1676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.485;DP=461;ExcessHet=0;FS=2.942;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=1.17;SOR=0.48	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1249	9	0	1	0
chr9	35399712	35399712	G	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371188:exon26:c.G2962A:p.A988T,UNC13B:NM_001371187:exon28:c.G5212A:p.A1738T,UNC13B:NM_001330653:exon35:c.G4072A:p.A1358T,UNC13B:NM_001371186:exon35:c.G4069A:p.A1357T,UNC13B:NM_006377:exon35:c.G4072A:p.A1358T,UNC13B:NM_001371189:exon36:c.G12319A:p.A4107T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.030051405248	.	0.000998403	0.0006	0	0	0	0	0	0	0.0047	0.0005433	84	154602	rs369287210	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	0	0	0	0	0	0.0002	1.799e-05	0.0003	0.0052	0.0002	0.0002	7.717e-05	0.0003	0.0048	0.0001	9.706e-05	0.0033	0.0028	2.41e-05	0	0	0	0	0	0	1.471e-05	0	0.0048	0.003	0.68238	D	0.004	0.74150	D	0.99	0.63424	D	0.796	0.58006	P	0.000001	0.84330	D	0.094982	1	0.81001	D	2.24	0.63355	M	-0.94	0.75325	T	-2.94	0.61435	D	0.801	0.82761	0.051	0.83262	D	0.519	0.82043	D	10	0.019571364	0.00439	T	0.030051	0.52439	D	0.600	0.84183	0.755	0.88484	0.758059979048	0.75586	0.42919581317586686	0.42836	0.742688789753	0.63350	0.776012182236	0.78327	T	0.043946	0.68782	T	-0.111781	0.34475	T	0.0674732	0.74741	D	0.163788472197745	0.18147	T	0.945105	0.79107	D	0.35729945	0.57630	0.39017984	0.63819	0.35729945	0.57631	0.39017984	0.63819	-7.39	0.56834	T	.	.	0.467	0.63023	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.880864	0.80049	27.2	0.99924299996040078	0.98980	0.99902	0.99972	D	AEFDBI	0.920134	0.89167	D	0.700871172754308	0.79689	7.131065	0.75811752605351	0.86762	8.994405	0.999999999998225	0.74766	0.706548	0.73137	0	0.486142	0.07564	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	9.893000	0.98592	8.626000	0.77832	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.698	0.96034	141	0.94388	.;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1272.43	33	chr9	35399712	.	G	A	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.12;SOR=0.748	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	9	0	1	0
chr9	35563193	35563193	T	C	exonic	FAM166B	.	nonsynonymous SNV	FAM166B:NM_001099951:exon2:c.A259G:p.S87G,FAM166B:NM_001164310:exon2:c.A259G:p.S87G,FAM166B:NM_001287238:exon2:c.A259G:p.S87G,FAM166B:NM_001287239:exon2:c.A259G:p.S87G	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00313266681966	0.0009	0.000199681	0.0006	0	8.639e-05	0	0	0.0011	0	0	0.0005757	89	154602	rs200321682	0.0007	0.0007	0.0007	0.0007	0.0010	0.0007	0.0007	0.0008	0.0008	2.987e-05	0.0004	0	0	0	0.0010	0.0009	0.0005	0	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0005	0.0010	0.0010	0.0002	0	0.0007	0	0	0	0.0034	0.0012	0	0	0.118	0.28148	T	0.358	0.17064	T	0.016	0.58077	B	0.005	0.54061	B	0.264850	0.15242	U	0.470849	0.974191	0.25505	N	1.65	0.42232	L	.	.	.	-1.42	0.34992	N	0.345	0.38643	-0.9249	0.44872	T	0.170	0.51085	T	9	0.029707968	0.01097	T	0.003133	0.06815	T	0.092	0.26621	.	.	0.137902524267	0.13322	0.3612253334263521	0.36036	0.0406774102335	0.04362	0.431382954121	0.29397	T	0.001798	0.01214	T	-0.356244	0.04347	T	-0.334937	0.40917	T	0.021279248366516	0.00830	T	0.59464	0.22023	T	0.11508515	0.27161	0.11491309	0.27740	0.11508515	0.27161	0.11491309	0.27739	-3.546	0.18060	T	.	.	0.101	0.17615	B	.;.;.	.;.;.	1.476119	0.19009	14.04	0.99598526498533779	0.74042	0.64978	0.32584	D	AEFDGBCI	0.229251	0.35280	N	0.0056590018886421	0.42111	2.531277	0.0922080337460758	0.44157	2.702842	0.999999513612325	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.735409	0.98432	0	.	.	5.9	4.77	0.60425	0.719000	0.25552	0.167000	0.15474	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.699000	0.34110	0.0:0.0863:0.0:0.9137	8.564	0.32688	205	0.92010	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1992.43	38	chr9	35563193	.	T	C	1992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.373;DP=545;ExcessHet=0;FS=3.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.023;SOR=0.471	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	9	0	1	0
chr9	35714812	35714812	G	C	exonic	TLN1	.	nonsynonymous SNV	TLN1:NM_006289:exon22:c.C2819G:p.S940C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0169917802009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.026	0.55759	D	0.396	0.34753	B	0.353	0.42910	B	0.000005	0.62929	D	0.110732	0.99983	0.49637	D	1.78	0.46185	L	-0.44	0.69777	T	-2.07	0.47344	N	0.502	0.53445	-0.5949	0.65024	T	0.263	0.63458	T	10	0.35125053	0.51979	T	0.016992	0.38500	T	0.123	0.34020	0.271	0.22052	0.569281680604	0.56593	0.17759278902364825	0.17678	0.739975342488	0.63197	0.55018478632	0.45884	T	0.626703	0.88376	D	-0.0248669	0.48158	T	-0.273496	0.47466	T	0.62720251083374	0.37502	D	0.886911	0.61435	D	0.13728741	0.31794	0.10197581	0.24428	0.13728741	0.31794	0.10197581	0.24427	-6.185	0.47801	T	.	.	0.088	0.11461	B	.	.	4.361127	0.67059	25.0	0.9606698981587537	0.28611	0.96231	0.68139	D	AEFDBCI	0.688349	0.64938	D	0.133140761875285	0.48014	3.019239	0.192196709085304	0.49419	3.145274	0.999999970959472	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	5.838000	0.69097	11.929000	0.99898	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.798000	0.37648	0.0746:0.0:0.9254:0.0	12.825	0.57095	101	0.95833	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	735.43	34	chr9	35714812	.	G	C	735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.424;DP=387;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.949;SOR=0.433	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1158	9	0	1	0
chr9	35906578	35906578	-	CACCACCTCCAC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.291_292insCACCACCTCCAC:p.H103_H104insLHHH	.	594	912	5	3	8	19	0.00599455	.	.	.	3887060	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.1283	.	0.0017	0	0.0009	0.0002	0	0.0024	0.0137	0.0014	5.17e-05	8	154602	rs745974201	0.0046	0.0047	0.0046	0.0047	0.0113	0.0045	0.0045	0.0086	0.0076	0.0008	0.0023	0.0269	0.0001	6.03e-05	0.0113	0.0045	0.0065	0.0039	0.0062	0.0068	0.0061	0.0064	0.0068	0.0057	0.0055	0.0061	0.0058	0.0023	0.0030	0.0041	0.0396	0	0	0	0.0068	0.0084	0.0061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	699.39	42	chr9	35906578	.	T	TCACCACCTCCAC	699.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.637;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=1.05;SOR=0.791	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,111,1665	9	0	1	0
chr9	35906625	35906625	-	CACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACCC	exonic	HRCT1	.	nonframeshift insertion	HRCT1:NM_001039792:exon1:c.338_339insCACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACCC:p.H113_A114insTPHHLHHHHHHHHHHP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	336.44	20	chr9	35906625	.	A	ACACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCACCC	336.44	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.73;DP=292;ExcessHet=0;FS=8.607;InbreedingCoeff=-0.1773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-2.402;SOR=2.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:19:.:.:0,19,523:.	5	0	1	4
chr9	35957239	35957239	A	G	exonic	OR2S2	.	nonsynonymous SNV	OR2S2:NM_019897:exon1:c.T860C:p.V287A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0115	0.00858626	0.0030	0.0331	0.0020	0	0	0	0.0011	0	0.0028719	444	154602	rs2233570	0.0009	0.0009	0.0011	0.0008	0.0336	0.0009	0.0009	0.0319	0.0313	0.0336	0.0021	0	0	0	0.0012	1.799e-05	0.0021	9.275e-05	0.0085	0.0086	0.0089	0.0082	0.0299	0.0082	0.0080	0.0285	0.0279	0.0299	0	0.0032	0	0	0	0	7.354e-05	0.0028	0.0002	0.037	0.43085	D	.	.	.	0.101	0.25775	B	0.12	0.32230	B	0.081371	0.20870	N	0.346122	1	0.08975	N	1.795	0.47270	L	8.19	0.00279	T	-3.34	0.66325	D	0.487	0.52119	-0.9595	0.39274	T	0.000	0.00075	T	10	0.0068852007	0.00156	T	.	.	.	0.053	0.14996	.	.	0.208816687407	0.20498	0.06462187369631338	0.06401	0.081196829567	0.09137	0.240981936455	0.02879	T	0.006025	0.05459	T	-0.5984	0.00149	T	-0.606574	0.12264	T	0.0367051199031075	0.03104	T	0.585041	0.21304	T	0.038515747	0.05147	0.08094471	0.18353	0.038515747	0.05146	0.08094471	0.18352	-6.598	0.51038	T	.	.	0.152	0.33596	B	.	.	1.761448	0.22403	15.61	0.68338257055298512	0.08628	0.10356	0.15885	N	AEFGBI	0.063896	0.12377	N	-0.711343823693758	0.15702	0.7936506	-0.765773762533711	0.15336	0.8060253	0.593228704253079	0.21664	0.486886	0.10167	0	0.563428	0.19063	0	0.563428	0.18855	0	0.478617	0.07155	0	.	.	3.98	2.81	0.31971	2.430000	0.44424	3.627000	0.39303	-0.097000	0.15994	0.137000	0.23458	0.117000	0.22861	0.115000	0.18958	0.6104:0.1986:0.0:0.191	4.776	0.12551	561	0.71236	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	1819.43	34	chr9	35957239	.	A	G	1819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.728;DP=413;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.447;SOR=0.774	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1175	9	0	1	0
chr9	36121551	36121551	A	G	exonic	RECK	.	nonsynonymous SNV	RECK:NM_021111:exon20:c.A2557G:p.I853V,RECK:NM_001316345:exon22:c.A2173G:p.I725V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00502226197022	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307461233	4.789e-06	4.788e-06	5.446e-06	4.126e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.598e-06	1.656e-05	0	6.568e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.347	0.12428	T	0.426	0.13872	T	0.029	0.19866	B	0.006	0.12133	B	0.000089	0.51296	N	0.174798	0.62469	0.32736	D	0.46	0.12951	N	1.05	0.39990	T	-0.2	0.10136	N	0.23	0.25867	-1.0287	0.20876	T	0.062	0.25708	T	10	0.07116401	0.10452	T	0.005022	0.12690	T	0.044	0.11924	0.199	0.11247	0.379193981924	0.37526	0.4029344917674415	0.40209	0.189435828692	0.21264	0.364954322577	0.20105	T	0.083334	0.37031	T	-0.244307	0.14803	T	-0.588707	0.13778	T	0.338470041751862	0.26563	T	0.712229	0.32360	T	0.022395005	0.00899	0.032401614	0.01971	0.022395005	0.00899	0.032401614	0.01970	-6.687	0.51712	T	.	.	0.057	0.00533	B	.	.	1.320740	0.17245	13.05	0.8677715523548406	0.16766	0.78552	0.38772	D	AEFBI	0.097128	0.19596	N	-0.484146987553164	0.22600	1.207882	-0.291653375681609	0.28372	1.581496	0.970914720045713	0.29245	0.732398	0.92422	0	0.610034	0.51514	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.66	3.32	0.37134	3.131000	0.50210	4.026000	0.41295	-0.051000	0.17024	0.997000	0.40164	0.999000	0.35428	0.997000	0.79791	0.8406:0.0:0.1594:0.0	8.607	0.32944	445	0.79730	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1035.43	33	chr9	36121551	.	A	G	1035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.137;DP=437;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.228;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	9	0	1	0
chr9	37541436	37541436	A	C	exonic	FBXO10	.	nonsynonymous SNV	FBXO10:NM_012166:exon2:c.T333G:p.S111R	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00808837983992	0.0005	0.00119808	0.0018	0.0001	0.0012	0	0	0.0017	0.0022	0.0052	0.0015977	247	154602	rs112964036	0.0010	0.0010	0.0009	0.0011	0.0045	0.0010	0.0009	0.0041	0.0040	5.974e-05	0.0011	0.0213	0	0	0.0045	0.0003	0.0021	0.0045	0.0009	0.0009	0.0008	0.0010	0.0044	0.0008	0.0008	0.0029	0.0025	2.408e-05	0	0.0006	0.0219	0	0	0	0.0005	0.0019	0.0044	0.125	0.27310	T	0.284	0.21411	T	0.002	0.09854	B	0.001	0.04355	B	0.001928	0.37643	N	0.350945	1	0.81001	D	0.69	0.16971	N	1.0	0.41392	T	-0.21	0.10308	N	0.274	0.31027	-1.1049	0.03547	T	0.045	0.19275	T	10	0.0052389205	0.00114	T	0.008088	0.21444	T	0.014	0.01968	0.261	0.20473	0.154104182512	0.14974	0.5458729683214153	0.54513	0.328850695401	0.34999	0.481089532375	0.36206	T	0.01887	0.15137	T	-0.621679	0.00107	T	-0.66496	0.07935	T	0.0186635374740232	0.00580	T	0.789921	0.43036	T	0.061248254	0.12662	0.06894797	0.14464	0.061248254	0.12662	0.06894797	0.14464	-4.221	0.27055	T	.	.	0.216	0.44514	B	.	.	0.630485	0.09991	6.743	0.95633289303742097	0.27418	0.15017	0.18702	N	AEFDGBI	0.074046	0.14829	N	-1.17026230695732	0.05454	0.2487063	-1.12892411779318	0.07152	0.3468194	0.439788413610773	0.20443	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.85	-2.73	0.05599	-0.763000	0.04846	-0.137000	0.11557	-0.065000	0.16512	0.016000	0.19238	0.001000	0.17328	0.652000	0.32748	0.3741:0.2467:0.3793:0.0	6.550	0.21626	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	2448.43	33	chr9	37541436	.	A	C	2448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.83;DP=533;ExcessHet=0;FS=3.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.679;SOR=0.931	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1238	9	0	1	0
chr9	37588901	37588901	T	C	exonic	TOMM5	.	nonsynonymous SNV	TOMM5:NM_001001790:exon2:c.A153G:p.I51M,TOMM5:NM_001134485:exon2:c.A255G:p.I85M	.	446	1075	1	0	0	1	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.117173651247	0.0002	0.000199681	0.0001	0.0001	0.0003	0	0	0.0002	0	0	0.0001229	19	154602	rs200232709	0.0001	0.0001	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	0.0005	0.0003	0.0015	0	0	0.0033	7.195e-05	0.0005	4.641e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.23e-05	0.0001	0.0001	0	0	0.0003	0.0006	0	0	0	0.0002	0.0005	0.0002	0.003	0.72154	D	0.004	0.76473	D	0.866	0.47610	P	0.53	0.48544	P	0.000090	0.51296	D	0.071397	1	0.81001	D	.	.	.	.	.	.	-2.17	0.49018	N	0.257	0.32259	-0.5720	0.65935	T	0.268	0.63971	T	8	0.033285916	0.01501	T	0.117174	0.79688	D	0.644	0.86485	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	0.056811	0.30392	T	-0.0612267	0.42715	T	-0.0410109	0.67633	D	0.115503765642643	0.13985	T	0.313569	0.24845	T	0.22220765	0.44815	0.22427301	0.47334	0.22220765	0.44815	0.22427301	0.47333	-4.656	0.32867	T	.	.	0.532	0.66007	A	.;.	.;.	2.580122	0.33447	19.34	0.99635626235667574	0.76326	0.86624	0.45943	D	AEFDBCI	0.209934	0.33588	N	0.140215182090608	0.48348	3.048	0.178968263477668	0.48694	3.082071	0.999999523215451	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	3.98	0.45383	2.084000	0.41249	2.855000	0.35166	-0.125000	0.13442	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:0.1798:0.8202	9.332	0.37187	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.017544	0.000000	0.008621	0.000000	0.003788	0.05	544.43	38	chr9	37588901	.	T	C	544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.761;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.486;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	9	0	1	0
chr9	37711385	37711385	G	A	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon5:c.G398A:p.R133H,FRMPD1:NM_001371225:exon5:c.G398A:p.R133H,FRMPD1:NM_014907:exon5:c.G398A:p.R133H,FRMPD1:NM_001371224:exon6:c.G398A:p.R133H	.	427	1074	20	1	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	0.0016	0.00499201	0.0050	0.0002	0.0012	0	0.0097	0.0035	0.0044	0.0174	0.0043272	669	154602	rs140966026	0.0031	0.0032	0.0027	0.0036	0.0173	0.0031	0.0030	0.0165	0.0162	0.0002	0.0007	0.0272	5.042e-05	0.0097	0.0070	0.0013	0.0045	0.0173	0.0030	0.0030	0.0022	0.0038	0.0166	0.0028	0.0027	0.0137	0.0126	0.0003	0	0.0024	0.0245	0.0002	0.0106	0.0034	0.0018	0.0014	0.0166	0.04	0.42199	D	0.008	0.67890	D	1.0	0.90584	D	0.98	0.74843	D	0.000102	0.50451	D	0.126928	0.999999	0.58761	D	2.75	0.80375	M	0.56	0.54540	T	-0.46	0.14978	N	0.802	0.79792	-0.3916	0.72291	T	0.270	0.64193	T	10	0.010544717	0.00234	T	.	.	.	0.256	0.56694	.	.	0.852118958226	0.85069	0.6603132943390886	0.65968	0.65385711265	0.58498	0.652536511421	0.60346	T	0.010143	0.09188	T	-0.272517	0.11477	T	-0.149948	0.59248	T	0.0745650310130186	0.09277	T	0.863014	0.55864	D	0.077943295	0.17721	0.079483435	0.17896	0.077943295	0.17721	0.079483435	0.17895	-5.07	0.37590	T	.	.	0.279	0.51721	B	.;.	.;.	5.261493	0.88341	29.6	0.99948385802521578	0.99923	0.93011	0.57101	D	AEFBI	0.629839	0.61141	D	0.77566760609353	0.84564	8.322759	0.739514374306243	0.85372	8.560839	0.97591204178563	0.29676	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.31	5.31	0.75063	5.780000	0.68607	11.696000	0.94428	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	14.482	0.67172	798	0.45050	PDZ domain|PDZ domain;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.000000	0.002924	0.000000	0.017241	0.009146	0.015152	0.1	3607.14	33	chr9	37711385	.	G	A	3607.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=605;ExcessHet=0.2348;FS=2.462;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.37;SOR=0.86	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	8	0	2	0
chr9	38396909	38396909	C	-	exonic	ALDH1B1	.	frameshift deletion	ALDH1B1:NM_000692:exon2:c.1161delC:p.G388Efs*23	.	343	1147	31	1	0	33	0.0141813	.	.	.	211394	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0069	0.00439297	0.0048	0.0053	0.0054	0.0001	0.0006	0.0063	0.0110	0.0022	0.00011	17	154602	rs201408956	0.0052	0.0052	0.0052	0.0052	0.0135	0.0051	0.0050	0.0111	0.0102	0.0049	0.0059	0.0143	5.038e-05	0.0010	0.0135	0.0054	0.0065	0.0026	0.0050	0.0050	0.0054	0.0046	0.0066	0.0047	0.0046	0.0056	0.0052	0.0057	0	0.0066	0.0115	0	0.0002	0.0170	0.0050	0.0099	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014602	0.020202	0.017663	0.014620	0.000000	0.000000	0.018293	0.011364	0.05	2992.39	40	chr9	38396908	.	GC	G	2992.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.678;DP=597;ExcessHet=0;FS=0.505;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.137;SOR=0.742	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr9	38424421	38424421	G	C	exonic	IGFBPL1	.	nonsynonymous SNV	IGFBPL1:NM_001007563:exon1:c.C4G:p.P2A	.	376	1141	4	1	0	6	0.00262238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0717911933153	.	0.000399361	0.0029	0	0	0	0	0	0	0.0041	0.0001746	27	154602	rs559592854	0.0003	0.0002	0.0001	0.0004	0.0023	0.0002	0.0002	0.0020	0.0019	0	0	0	0	0	0	3.788e-06	0.0002	0.0023	7.933e-05	7.879e-05	3.877e-05	0.0001	0.0021	4.522e-05	3.532e-05	0.0011	0.0009	0	0	6.576e-05	0	0	0	0	1.48e-05	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.916	0.50672	P	0.314	0.41528	B	.	.	.	.	0.987988	0.24459	N	0	0.06538	N	2.46	0.14907	T	-1.19	0.30346	N	0.069	0.04188	-1.0435	0.16265	T	0.021	0.08778	T	9	0.014130712	0.00298	T	0.071791	0.71363	D	0.050	0.13987	0.209	0.12639	0.284150004643	0.28039	0.3458642402397724	0.34500	0.232998309834	0.25837	0.684405684471	0.64901	T	0.007803	0.07183	T	-0.569317	0.00223	T	-0.597825	0.12993	T	0.0641240729241596	0.07800	T	0.277772	0.04791	T	0.21292384	0.43658	0.18325895	0.41305	0.21292384	0.43657	0.18325895	0.41304	-3.685	0.19097	T	.	.	0.067	0.02578	B	.	.	1.599289	0.20445	14.75	0.97272940145014775	0.33144	0.43648	0.27144	N	AEFDBHCIJ	0.051620	0.09138	N	-0.30024792848713	0.29140	1.613301	-0.310090551171214	0.27772	1.543425	0.999999998972598	0.74766	0.789315	0.99827	0	0.596491	0.49125	0	0.768056	0.98339	0	0.603991	0.37454	0	.	.	3.14	2.19	0.26890	0.232000	0.17670	0.791000	0.21569	0.487000	0.22268	0.845000	0.30364	0.999000	0.35428	0.387000	0.26492	0.1298:0.0:0.8702:0.0	8.348	0.31445	908	0.22609	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	519.43	37	chr9	38424421	.	G	C	519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=375;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.22;SOR=0.648	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1152	9	0	1	0
chr9	41953185	41953185	C	T	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon13:c.G2078A:p.R693Q	.	.	.	.	.	.	.	.	0.0001	0.01	.	2334252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00231160406219	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418042658	8.34e-05	0.0007	9.551e-05	7.102e-05	0.0028	7.058e-05	6.568e-05	0.0023	0.0021	0.0028	0.0006	0	3.011e-05	0	0	1.023e-05	7.044e-05	3.83e-05	0.0006	0.0051	0.0007	0.0005	0.0021	0.0005	0.0005	0.0017	0.0016	0.0021	0	0.0003	0	0	0	0	0	0.0014	0	.	.	.	0.694	0.11795	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.08366	.	.	.	.	.	.	.	0.031951547	0.01338	T	.	.	.	.	.	.	.	.	.	0.11500697654376946	0.11428	.	.	.	.	.	0.003811	0.03222	T	.	.	.	.	.	.	.	.	.	0.492351	0.15167	T	.	.	.	.	.	.	.	.	-5.289	0.39834	T	.	.	0.073	0.06990	B	.;.;.;.	.;.;.;.	-0.278381	0.02713	0.356	.	.	.	.	.	.	0.028830	0.02611	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.531000	0.01019	-5.565000	0.01673	0.295000	0.18837	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	.	.	.	994	0.00715	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	132.43	34	chr9	41953185	.	C	T	132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.407;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.23;MQRankSum=-3.01;QD=2.55;ReadPosRankSum=1.28;SOR=0.617	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,918	9	0	1	0
chr9	61191484	61191484	G	A	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon2:c.G221A:p.G74D,SPATA31A7:NM_015667:exon2:c.G221A:p.G74D	.	579	934	6	3	0	12	0.00638298	.	.	.	2342996	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.000771739095602	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372452369	0.0005	0.0005	0.0005	0.0006	0.0045	0.0005	0.0005	0.0029	0.0024	0.0002	0.0006	0	0	0.0010	0.0045	0.0004	0.0006	0.0026	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0005	0	0	0.0014	0.0045	0.0004	0.0006	0.0007	.	.	.	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.06826696	0.09631	T	.	.	.	.	.	.	.	.	.	0.1431986113949857	0.14242	.	.	.	.	.	0.101024	0.40738	T	.	.	.	.	.	.	.	.	.	0.447355	0.12562	T	.	.	.	.	.	.	.	.	-6.532	0.50533	T	.	.	0.272	0.50627	B	.	.	1.342261	0.17486	13.19	.	.	.	.	.	.	0.031771	0.03460	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.135000	0.10399	-8.085000	0.01031	0.308000	0.19071	0.000000	0.06391	0.000000	0.08366	0.178000	0.21234	.	.	.	.	.	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4466.14	225	chr9	61191484	.	G	A	4466.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.709;DP=737;ExcessHet=0.2348;FS=2.46;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.53;MQRankSum=-2.852;QD=9.99;ReadPosRankSum=0.687;SOR=0.878	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1283	8	0	2	0
chr9	61193088	61193088	A	C	exonic	SPATA31A5;SPATA31A7	.	nonsynonymous SNV	SPATA31A5:NM_001113541:exon4:c.A1002C:p.E334D,SPATA31A7:NM_015667:exon4:c.A1002C:p.E334D	.	573	946	3	0	0	3	0.00158311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1157379835	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	5.839e-05	0.0025	1.21e-05	0.0003	0.0048	5.839e-05	8.564e-05	0	0.0001	0.0022	2.206e-05	1.439e-05	0.0008	0.0005	0	0	0	0	0	0	0	2.238e-05	0	0.0022	.	.	.	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.05482477	0.05896	T	.	.	.	.	.	.	.	.	.	0.22287660494865427	0.22202	.	.	.	.	.	0.038	0.24860	T	.	.	.	.	.	.	.	.	.	0.455954	0.13062	T	.	.	.	.	.	.	.	.	-5.495	0.41821	T	.	.	0.223	0.45470	B	.	.	0.334939	0.07086	3.659	.	.	.	.	.	.	0.032337	0.03632	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.759000	0.04866	-6.283000	0.01442	0.257000	0.18371	0.004000	0.16614	0.000000	0.08366	0.013000	0.09966	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	2229.08	34	chr9	61193088	.	A	C	2229.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.534;DP=459;ExcessHet=0;FS=1.22;MLEAC=1;MLEAF=0.056;MQ=35.88;MQRankSum=0.691;QD=12.88;ReadPosRankSum=-1.378;SOR=0.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1366	8	0	1	1
chr9	65284041	65284041	A	T	exonic	FOXD4L5	.	nonsynonymous SNV	FOXD4L5:NM_001126334:exon1:c.T337A:p.Y113N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.412294936582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.003029	0.35542	U	0.000000	0.999996	0.58761	D	4.045	0.97016	H	-4.54	0.97732	D	-8.99	0.98054	D	0.869	0.86618	1.007	0.97301	D	0.964	0.98834	D	9	0.98605883	0.98894	D	0.412295	0.93623	D	0.597	0.84019	0.907	0.98068	0.527506455877	0.52396	0.3898956769775818	0.38904	.	.	0.816631674767	0.84511	D	0.885037	0.97620	D	0.282453	0.81526	D	0.167947	0.81287	D	0.998579144477844	0.94534	D	0.985451	0.95004	D	0.8345562	0.86222	0.7393658	0.84594	0.8345562	0.86223	0.7393658	0.84595	-16.73	0.98663	D	.	.	0.956	0.87566	P	.	.	5.431423	0.90826	31	0.96932592780037441	0.31664	0.89502	0.50008	D	AEFI	0.351986	0.44490	N	0.306200232062617	0.56467	3.81138	-0.0174953115752173	0.38924	2.300325	2.92381116194186E-4	0.06406	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.586402	0.36253	0	.	.	.	.	.	8.530000	0.90418	10.629000	0.83502	0.347000	0.19874	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	1.0:0.0:0.0:0.0	5.994	0.18714	.	.	Fork head domain|Fork head domain|Fork head domain conserved site1|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	253.43	41	chr9	65284041	.	A	T	253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=451;ExcessHet=0;FS=0.861;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.58;MQRankSum=-0.315;QD=2.08;ReadPosRankSum=1.24;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1314:.	9	0	1	0
chr9	66990479	66990479	C	G	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon3:c.G274C:p.E92Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219012761	5.297e-05	0.0003	5.139e-05	5.457e-05	0.0002	4.339e-05	3.962e-05	4.052e-05	3.642e-05	9.308e-05	4.528e-05	0	0	1.882e-05	0.0002	5.132e-05	0.0001	7.036e-05	0.0005	0.0007	0.0005	0.0005	0.0005	0.0004	0.0003	0.0004	0.0003	0.0004	0.0096	0.0005	0	0	0	0	0.0005	0	0	.	.	.	0.046	0.49120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.092312336	0.16245	T	.	.	.	.	.	.	.	.	.	0.12372501910249045	0.12298	.	.	.	.	.	0.008309	0.07636	T	.	.	.	.	.	.	.	.	.	0.417258	0.10990	T	.	.	.	.	.	.	.	.	-3.251	0.13114	T	.	.	0.121	0.25000	B	.	.	0.960225	0.13364	9.872	.	.	.	.	.	.	0.032354	0.03640	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109000	0.15252	-1.850000	0.04613	0.286000	0.18717	0.002000	0.15269	0.000000	0.08366	0.012000	0.09680	.	.	.	994	0.00715	Domain of unknown function DUF4599	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	37.43	16	chr9	66990479	.	C	G	37.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=200;ExcessHet=0;FS=2.567;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=27.25;MQRankSum=-2.011;QD=1.7;ReadPosRankSum=1.71;SOR=1.329	GT:AD:DP:GQ:PL	0/0:21,0:21:45:0,45,675	9	0	1	0
chr9	67900907	67900907	C	T	exonic	ANKRD20A1	.	stopgain	ANKRD20A1:NM_032250:exon15:c.C1912T:p.R638X	.	566	897	59	0	0	59	0.0318403	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00439297	0.0065	0.0004	0.0028	0	0	0.0042	0.0023	0.0273	0.00146	38	26028	rs143310784	0.0043	0.0045	0.0034	0.0051	0.0280	0.0042	0.0041	0.0271	0.0267	0.0005	0.0020	0.0134	7.576e-05	3.747e-05	0.0213	0.0027	0.0053	0.0280	0.0027	0.0030	0.0022	0.0031	0.0249	0.0024	0.0024	0.0212	0.0198	0.0004	0	0.0017	0.0110	0	0	0.0034	0.0028	0.0058	0.0249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.432614	0.68750	25.3	.	.	.	.	.	.	0.119214	0.23277	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754000	0.26056	-0.962000	0.06776	-3.177000	0.00113	0.992000	0.37556	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1453.43	36	chr9	67900907	.	C	T	1453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.496;DP=664;ExcessHet=0;FS=0.454;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.73;MQRankSum=-2.43;QD=4.3;ReadPosRankSum=-1.088;SOR=0.735	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	9	0	1	0
chr9	67901047	67901047	T	A	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon15:c.T2052A:p.S684R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	0.00199681	0.0056	0	0	0	.	0	0	0.5	0.0003842	10	26028	rs538856468	0.0007	0.0008	0.0004	0.0010	0.0111	0.0006	0.0006	0.0105	0.0103	0	2.247e-05	0	2.521e-05	0	0	4.499e-06	0.0004	0.0111	0.0003	0.0004	0.0001	0.0006	0.0103	0.0002	0.0002	0.0080	0.0071	0	0	0	0	0	0	0	0	0	0.0103	.	.	.	0.004	0.74150	D	0.797	0.44809	P	0.089	0.29769	B	.	.	.	.	0.988718	0.24379	N	0.975	0.24501	L	.	.	.	.	.	.	0.071	0.04426	-1.0065	0.28004	T	0.020	0.08453	T	9	0.0017012954	0.00021	T	.	.	.	.	.	0.314	0.28935	0.304565745084	0.30068	0.011981185572043125	0.01157	.	.	0.897406160831	0.96148	D	0.011726	0.10420	T	-0.224255	0.17417	T	-0.559903	0.16386	T	0.0162289356369465	0.00396	T	0.339066	0.07293	T	0.09132613	0.21397	0.14647616	0.34701	0.09132613	0.21397	0.14647616	0.34700	-5.65	0.43246	T	.	.	0.364	0.57448	A	.	.	1.230643	0.16252	12.42	0.86332022078084225	0.16466	0.01641	0.05281	N	AEFI	0.040640	0.06074	N	-0.70530392612986	0.15872	0.8037847	-0.824504044449607	0.13901	0.7236671	1.11967004987485E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.113707	0.03433	3	.	.	1.88	0.395	0.15527	-1.204000	0.03127	-3.886000	0.02473	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2602:0.0:0.0:0.7398	5.118	0.14176	994	0.00715	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	538.43	41	chr9	67901047	.	T	A	538.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.464;DP=466;ExcessHet=0;FS=4.152;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.27;MQRankSum=1.61;QD=5.28;ReadPosRankSum=0.397;SOR=0.374	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	9	0	1	0
chr9	69246710	69246710	G	A	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon18:c.G2599A:p.A867T,TJP2:NM_001170416:exon18:c.G2680A:p.A894T,TJP2:NM_001369872:exon18:c.G2587A:p.A863T,TJP2:NM_001369873:exon18:c.G2587A:p.A863T,TJP2:NM_001369874:exon18:c.G2599A:p.A867T,TJP2:NM_001369875:exon18:c.G2599A:p.A867T,TJP2:NM_004817:exon18:c.G2587A:p.A863T,TJP2:NM_201629:exon18:c.G2587A:p.A863T,TJP2:NM_001170414:exon19:c.G2518A:p.A840T,TJP2:NM_001369870:exon19:c.G2512A:p.A838T,TJP2:NM_001369871:exon20:c.G2518A:p.A840T	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00827035716884	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1398489722	3.42e-06	4.104e-06	4.084e-06	2.75e-06	0.0002	1e-06	7.3e-07	.	.	0	0	0	0	0	0.0002	0	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.11120	T	0.72	0.06128	T	0.051	0.22415	B	0.12	0.32230	B	0.000058	0.53742	D	0.125323	0.999823	0.49512	D	1.17	0.29769	L	0.99	0.41750	T	-1.08	0.28084	N	0.201	0.24634	-1.0934	0.04989	T	0.081	0.32119	T	10	0.26376897	0.43857	T	0.00827	0.21903	T	0.078	0.22779	0.786	0.90919	0.572589462766	0.56925	0.3475001702788411	0.34664	0.336045285485	0.35606	0.62474834919	0.56400	T	0.087977	0.38060	T	-0.16417	0.26120	T	-0.473595	0.25131	T	0.364519774913788	0.27585	T	0.858314	0.54891	D	0.066230536	0.14229	0.09765324	0.23253	0.066230536	0.14229	0.09765324	0.23252	-4.016	0.24042	T	0.6194478929694722	0.68768	0.076	0.14660	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.786444	0.54474	23.5	0.63192962271699282	0.07159	0.93942	0.59640	D	AEFBI	0.366566	0.45434	N	-0.190673239875293	0.33520	1.902747	-0.0440470579607692	0.37748	2.214464	0.541672926218329	0.21258	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	3.25	0.36363	2.274000	0.43049	5.099000	0.47419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0722:0.0:0.7929:0.1349	10.633	0.44738	988	0.01987	.;.;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1064.43	34	chr9	69246710	.	G	A	1064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.327;DP=418;ExcessHet=0;FS=0.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=-0.787;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	9	0	1	0
chr9	69857916	69857916	G	C	exonic	C9orf135	.	nonsynonymous SNV	C9orf135:NM_001308085:exon3:c.G91C:p.G31R,C9orf135:NM_001308086:exon3:c.G91C:p.G31R,C9orf135:NM_001010940:exon4:c.G388C:p.G130R,C9orf135:NM_001308084:exon4:c.G388C:p.G130R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0107897038745	.	0.000199681	1.65e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs150146241	1.505e-05	1.505e-05	1.498e-05	1.513e-05	0.0002	9.86e-06	8.42e-06	8.891e-05	7.058e-05	0	0	0	0	0	0.0002	7.196e-06	0	0.0002	1.97e-05	1.969e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.015	0.52492	D	0.022	0.57587	D	0.994	0.66517	D	0.933	0.66815	D	0.004762	0.33407	N	0.210963	0.636458	0.30653	N	2.255	0.64187	M	.	.	.	-3.41	0.69357	D	0.416	0.49328	-0.6312	0.63520	T	0.217	0.57941	T	9	0.19595745	0.35468	T	0.01079	0.27726	T	0.182	0.45420	0.408	0.44230	0.0762999501168	0.06990	0.48550874043426073	0.48470	0.059884287588	0.06659	.	.	.	0.146261	0.48377	T	-0.129451	0.31585	T	-0.242196	0.50585	T	0.678827285766602	0.39735	D	0.722228	0.33695	T	0.24331293	0.47268	0.22270599	0.47125	0.24331293	0.47268	0.22270599	0.47124	-3.036	0.16869	T	.	.	0.317	0.58089	B	.;.	.;.	2.875092	0.38031	20.6	0.99847407773519781	0.92750	0.82069	0.41354	D	AEFBI	0.211178	0.33700	N	0.0395635417228033	0.43663	2.654905	0.0296734709620411	0.41099	2.463582	0.999814391024909	0.43459	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.635259	0.50027	0	.	.	5.2	4.29	0.50359	1.044000	0.29939	4.717000	0.44485	-0.144000	0.12334	0.998000	0.41325	1.000000	0.68203	0.033000	0.13494	0.0:0.1701:0.8299:0.0	12.279	0.54073	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	763.43	37	chr9	69857916	.	G	C	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.3;ReadPosRankSum=-1.1;SOR=0.63	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr9	71704721	71704721	C	T	exonic	CEMIP2	.	nonsynonymous SNV	CEMIP2:NM_001135820:exon17:c.G2879A:p.R960Q,CEMIP2:NM_001349784:exon18:c.G1154A:p.R385Q,CEMIP2:NM_013390:exon18:c.G3068A:p.R1023Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0209424512103	.	.	8.238e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs752099941	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.237e-05	1.051e-05	1.46e-05	1.227e-05	0	0	0	0	0	0.0002	2.158e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.21224	T	0.201	0.59159	T	0.067	0.38124	B	0.011	0.28220	B	0.000091	0.51296	D	0.166597	0.997869	0.44266	D	.	.	.	-0.73	0.73100	T	-0.85	0.26843	N	0.318	0.41162	-0.8462	0.52229	T	0.174	0.51753	T	10	0.24521303	0.41766	T	0.020942	0.43628	T	0.060	0.17295	0.36	0.36385	0.584643129919	0.58136	0.684493275369764	0.68388	0.204610419644	0.22881	0.511867403984	0.40483	T	0.021049	0.20195	T	0.0668041	0.60457	T	-0.126331	0.61279	T	0.33073359111963	0.26254	T	0.919908	0.73770	D	0.086636424	0.20144	0.07840534	0.17557	0.086636424	0.20144	0.07840534	0.17556	-2.887	0.09014	T	.	.	0.089	0.32030	B	.;.;.;.;.	.;.;.;.;.	3.803952	0.54822	23.5	0.99943526411249861	0.99848	0.96135	0.67693	D	AEFGBI	0.414032	0.48346	N	-0.0418343826999746	0.39967	2.365672	0.14617251482447	0.46941	2.931876	0.999999998900425	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	3.824000	0.55423	7.690000	0.65738	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.0:0.9288:0.0:0.0712	14.792	0.69473	867	0.32089	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1875.43	35	chr9	71704721	.	C	T	1875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.002;DP=620;ExcessHet=0;FS=1.258;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.301;SOR=0.832	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	9	0	1	0
chr9	72740177	72740177	C	T	exonic	TMC1	.	nonsynonymous SNV	TMC1:NM_138691:exon9:c.C421T:p.R141W	Deafness, autosomal dominant 36, Autosomal dominant;Deafness, autosomal recessive 7, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	57037	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_7|Autosomal_dominant_nonsyndromic_hearing_loss_36	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010967,MedGen:C1832978,OMIM:600974,Orphanet:90636|MONDO:MONDO:0011708,MedGen:C1847626,OMIM:606705,Orphanet:90635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0068	0.00219649	0.0070	0.0015	0.0054	0.0002	0.0026	0.0101	0.0011	0.0045	0.0074126	1146	154602	rs11143384	0.0099	0.0099	0.0100	0.0097	0.0114	0.0097	0.0097	0.0112	0.0111	0.0013	0.0045	0.0157	0.0003	0.0028	0.0023	0.0114	0.0083	0.0053	0.0068	0.0068	0.0073	0.0062	0.0108	0.0064	0.0063	0.0102	0.0099	0.0019	0	0.0065	0.0167	0.0002	0.0020	0.0068	0.0108	0.0052	0.0048	0.01	0.56456	D	0.001	0.83351	D	0.99	0.63424	D	0.724	0.55036	P	0.005478	0.32770	N	0.248868	0.999984	0.18198	N	2.24	0.63355	M	0.74	0.50459	T	-3.55	0.68764	D	0.407	0.44761	-0.9593	0.39311	T	0.131	0.44248	T	10	0.006860882	0.00156	T	.	.	.	0.145	0.38592	.	.	0.639161686029	0.63619	0.5310747661685233	0.53031	0.556333922428	0.52297	0.298189610243	0.10132	T	0.469083	0.80275	T	-0.433511	0.01412	T	-0.383161	0.35353	T	0.0216567839023721	0.00870	T	0.979802	0.93166	D	0.12821145	0.29981	0.13691153	0.32739	0.1358002	0.31504	0.12134909	0.29278	-12.268	0.86131	D	.	.	0.329	0.56946	B	.;.;.;.	.;.;.;.	3.842335	0.55612	23.6	0.99822741560024031	0.90502	0.07013	0.13040	N	AEFI	0.159644	0.28547	N	-0.018318779508646	0.41026	2.446732	-0.128832874360762	0.34234	1.966893	0.614364550442611	0.21831	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.62	3.71	0.41733	0.615000	0.24023	1.885000	0.29478	0.599000	0.40250	0.005000	0.17040	0.291000	0.24165	0.995000	0.73285	0.3523:0.6477:0.0:0.0	11.001	0.46822	577	0.69927	.;.;.;.	GDA	Adipose_Subcutaneous	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.011364	0.05	731.43	33	chr9	72740177	.	C	T	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.886;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	9	0	1	0
chr9	73170064	73170064	G	C	exonic	ANXA1	.	nonsynonymous SNV	ANXA1:NM_000700:exon13:c.G998C:p.G333A	.	.	.	.	.	.	.	.	.	.	.	3558269	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.425	0.0215920964074	0.0002	.	2.52e-05	0.0003	0	0	0	0	0	0	1.94e-05	3	154602	rs149989764	1.031e-05	1.026e-05	1.23e-05	8.287e-06	0.0004	6.19e-06	4.91e-06	0.0002	0.0002	0.0004	0	0	0	0	0	0	4.994e-05	0	9.211e-05	9.196e-05	7.716e-05	0.0001	0.0003	5.535e-05	4.37e-05	0.0002	0.0002	0.0003	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.142328	1	0.81001	D	3.98	0.96631	H	2.21	0.18414	T	-5.27	0.84175	D	0.473	0.50868	-0.6796	0.61391	T	0.185	0.53421	T	10	0.42542464	0.57141	T	0.021592	0.44379	T	0.425	0.73299	.	.	0.723900465636	0.72146	0.8418663161405916	0.84146	0.227004266067	0.25252	0.640963435173	0.58701	T	0.417963	0.77045	T	-0.0817118	0.39437	T	-0.0589575	0.66405	T	0.994006037712097	0.85055	D	0.950005	0.80823	D	0.80380553	0.84150	0.8339088	0.90441	0.80380553	0.84151	0.8339088	0.90441	-10.356	0.76015	D	.	.	0.672	0.71819	P	.;.	.;.	5.127760	0.85797	28.7	0.99813892292619921	0.89708	0.99333	0.94632	D	AEFBHCI	0.778498	0.71098	D	0.961968884107275	0.94448	12.76624	0.915131564295966	0.96198	14.41389	0.999999999999995	0.74766	0.634777	0.41761	0	0.588015	0.36545	0	0.573888	0.23631	0	0.645665	0.59343	0	.	.	5.87	5.87	0.94266	6.699000	0.74437	11.739000	0.95154	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	20.209	0.98287	679	0.60090	Annexin repeat, conserved site;Annexin repeat, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	544.43	35	chr9	73170064	.	G	C	544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=352;ExcessHet=0;FS=1.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.03;SOR=0.512	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,852	9	0	1	0
chr9	75069908	75069908	G	C	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon5:c.C304G:p.L102V,NMRK1:NM_017881:exon5:c.C304G:p.L102V,NMRK1:NM_001330678:exon6:c.C316G:p.L106V,NMRK1:NM_001330679:exon6:c.C316G:p.L106V	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0397904991121	0.0015	0.000798722	0.0014	0.0002	0.0003	0	0.0014	0.0019	0.0011	0.0016	0.0014942	231	154602	rs146012983	0.0022	0.0022	0.0022	0.0022	0.0025	0.0021	0.0021	0.0024	0.0024	0.0006	0.0006	0.0017	0	0.0018	0.0010	0.0025	0.0015	0.0013	0.0014	0.0014	0.0014	0.0013	0.0022	0.0012	0.0011	0.0019	0.0018	0.0003	0	0.0014	0.0023	0.0002	0.0010	0	0.0022	0.0014	0.0002	0.003	0.68238	D	0.074	0.42976	T	0.999	0.77913	D	0.996	0.84481	D	0.000008	0.62929	D	0.065086	0.994884	0.42456	D	2.835	0.82492	M	1.3	0.49068	T	-2.19	0.49352	N	0.511	0.54234	-0.5341	0.67386	T	0.284	0.65606	T	10	0.028863907	0.01015	T	0.03979	0.59008	D	0.216	0.50959	.	.	0.76554066581	0.76340	0.6875646154150812	0.68696	0.148953533345	0.16796	0.513455569744	0.40706	T	0.115187	0.43359	T	-0.376323	0.03286	T	-0.306799	0.44002	T	0.0430804988441211	0.04252	T	0.951205	0.82399	D	0.5969878	0.72529	0.44017994	0.67345	0.5969878	0.72530	0.44017994	0.67345	-6.462	0.68044	T	.	.	0.173	0.37858	B	.;.;.	.;.;.	4.568054	0.72040	25.8	0.99859105603442733	0.93729	0.96709	0.70521	D	AEFDBI	0.579089	0.58003	D	0.568070290642305	0.71188	5.613191	0.529947210321923	0.70015	5.443367	0.998973462231504	0.38110	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.553451	0.17756	0	.	.	5.76	4.84	0.62125	3.601000	0.53812	8.524000	0.77433	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0733:0.0:0.7793:0.1475	9.153	0.36137	728	0.54609	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	654.43	46	chr9	75069908	.	G	C	654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.603;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.34;SOR=0.579	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr9	76502542	76502542	G	A	exonic	GCNT1	.	nonsynonymous SNV	GCNT1:NM_001097636:exon2:c.G161A:p.S54N,GCNT1:NM_001097633:exon3:c.G161A:p.S54N,GCNT1:NM_001097634:exon3:c.G161A:p.S54N,GCNT1:NM_001097635:exon3:c.G161A:p.S54N,GCNT1:NM_001490:exon4:c.G161A:p.S54N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00662506493988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.07378	T	0.516	0.10607	T	0.0	0.02946	B	0.0	0.01387	B	0.230674	0.15928	N	0.607178	1	0.08975	N	0.58	0.15352	N	0.91	0.44856	T	-0.23	0.10656	N	0.09	0.06854	-1.0452	0.15767	T	0.049	0.21026	T	9	0.029846251	0.01111	T	0.006625	0.17472	T	0.051	0.14325	0.313	0.28774	0.215109475489	0.21095	0.4323569128238159	0.43152	0.293677345316	0.31787	0.280002355576	0.07493	T	0.057804	0.30668	T	-0.328354	0.06236	T	-0.709434	0.05324	T	0.0232277007232804	0.01050	T	0.415058	0.10864	T	0.0187832	0.00402	0.03037033	0.01484	0.0187832	0.00401	0.03037033	0.01483	-4.082	0.25024	T	.	.	0.073	0.04640	B	.;.;.	.;.;.	1.370819	0.17807	13.38	0.61640369777702031	0.06760	0.04147	0.09634	N	AEFBI	0.064450	0.12515	N	-0.884551221616487	0.11209	0.5397149	-0.857270621959811	0.13113	0.678453	0.990191481552044	0.32071	0.706548	0.73137	0	0.633656	0.55848	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.72	1.27	0.20595	1.120000	0.30885	1.173000	0.24639	0.596000	0.33519	0.002000	0.15269	0.001000	0.17328	0.822000	0.38733	0.4589:0.0:0.2489:0.2922	3.696	0.07898	871	0.31377	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1134.43	33	chr9	76502542	.	G	A	1134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.167;DP=406;ExcessHet=0;FS=5.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.17;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1095	9	0	1	0
chr9	77020813	77020813	G	C	exonic	FOXB2	.	nonsynonymous SNV	FOXB2:NM_001013735:exon1:c.G1159C:p.A387P	.	419	1085	17	1	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	.	.	0.000199681	0.0020	0.0007	0.0020	0	0	0.0027	0.0114	0.0016	0.0006856	106	154602	rs377521125	0.0007	0.0007	0.0007	0.0007	0.0055	0.0007	0.0007	0.0040	0.0035	0.0003	0.0005	0.0114	0	0	0.0055	0.0004	0.0017	0.0017	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0013	0.0010	7.217e-05	0	0.0005	0.0104	0	0	0.0103	0.0007	0.0009	0.0023	0.015	0.52492	D	0.312	0.19599	T	0.003	0.11197	B	0.004	0.10090	B	0.652760	0.05933	N	1.202600	0.999998	0.08975	N	0.92	0.23413	L	-4.01	0.96370	D	-1.01	0.26639	N	0.278	0.31478	-0.1303	0.79394	T	0.652	0.87900	D	10	0.005669862	0.00126	T	.	.	.	0.284	0.60219	.	.	0.848565438326	0.84711	0.3308093046913811	0.32993	.	.	0.793604016304	0.80991	T	0.01568	0.13108	T	-0.253451	0.13678	T	-0.155856	0.58723	T	0.00397192185015662	0.00042	T	0.507849	0.16117	T	0.24302977	0.47237	0.24187109	0.49594	0.24302977	0.47237	0.24187109	0.49593	-3.498	0.16403	T	.	.	0.076	0.05890	B	.	.	2.994168	0.39986	21.1	0.98772840874293677	0.46002	0.63656	0.32158	D	AEFDBHCI	0.215061	0.34046	N	-0.48586387122857	0.22544	1.204471	-0.333146365667603	0.27035	1.497392	0.995799907957972	0.34330	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.94	2.98	0.33575	2.100000	0.41402	7.763000	0.68332	0.590000	0.31872	0.337000	0.25649	1.000000	0.68203	0.855000	0.40485	0.0:0.1898:0.4884:0.3219	5.846	0.17921	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006173	0.000000	0.013624	0.002959	0.000000	0.009091	0.003145	0.000000	0.05	600.43	37	chr9	77020813	.	G	C	600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.47;DP=406;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.612;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr9	77247315	77247315	G	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon20:c.G1957T:p.A653S,VPS13A:NM_001018038:exon20:c.G1957T:p.A653S,VPS13A:NM_015186:exon20:c.G1957T:p.A653S,VPS13A:NM_033305:exon20:c.G1957T:p.A653S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0115127104807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294055057	1.373e-06	2.052e-06	0	2.76e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.34621	T	0.362	0.30534	T	0.121	0.26708	B	0.036	0.26451	B	0.000034	0.55875	D	0.119571	0.999986	0.54805	D	1.025	0.25523	L	0.61	0.53516	T	-1.07	0.31981	N	0.262	0.29659	-1.0234	0.22606	T	0.119	0.41713	T	10	0.17469022	0.32361	T	0.011513	0.29207	T	0.058	0.16647	0.661	0.79894	0.596289430357	0.59307	0.6724149351495822	0.67179	0.133449264394	0.15028	0.443638324738	0.31074	T	0.164415	0.50986	T	-0.051462	0.44225	T	-0.311698	0.43476	T	0.38830971743434	0.28500	T	0.864413	0.56401	D	0.1291693	0.30177	0.12831485	0.30873	0.1291693	0.30176	0.12831485	0.30872	-6.531	0.50525	T	.	.	0.121	0.24967	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.876115	0.38048	20.6	0.99303229652254554	0.58722	0.95365	0.64436	D	AEFBI	0.492485	0.52910	N	0.0703128589379383	0.45082	2.770749	0.252740625024719	0.52803	3.452931	0.999986895086554	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	2.982000	0.49027	5.014000	0.46692	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1339:0.8661:0.0	16.082	0.80820	826	0.39940	.;.;VPS13, repeated coiled region;.;.;.;VPS13, repeated coiled region	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1598.43	34	chr9	77247315	.	G	T	1598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.152;SOR=0.767	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1098	9	0	1	0
chr9	77295818	77295818	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon32:c.A3667G:p.I1223V,VPS13A:NM_001018038:exon33:c.A3784G:p.I1262V,VPS13A:NM_015186:exon33:c.A3784G:p.I1262V,VPS13A:NM_033305:exon33:c.A3784G:p.I1262V	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3795633	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00393376072711	.	.	2.491e-05	0	0	0	0	3.006e-05	0	6.064e-05	1.94e-05	3	154602	rs766063874	5.473e-06	5.472e-06	1.361e-06	9.627e-06	1.159e-05	2.36e-06	1.7e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.14996	T	0.793	0.04155	T	0.001	0.12183	B	0.002	0.18783	B	0.023512	0.26429	N	0.347814	0.850312	0.28506	N	1.42	0.35681	L	2.74	0.11730	T	-0.3	0.12661	N	0.166	0.30233	-0.9610	0.38993	T	0.017	0.06807	T	10	0.059349507	0.07121	T	0.003934	0.09274	T	0.030	0.07022	0.409	0.44395	0.126345400529	0.12197	0.4058718258763962	0.40503	0.106865737165	0.12070	0.345787465572	0.17300	T	0.161873	0.50631	T	-0.384775	0.02906	T	-0.693625	0.06181	T	0.0267854375409409	0.01514	T	0.694431	0.30434	T	0.024248667	0.01238	0.032922506	0.02105	0.024248667	0.01238	0.032922506	0.02104	-3.599	0.17842	T	.	.	0.071	0.03811	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.748318	0.11177	7.817	0.57463526817156696	0.05775	0.17334	0.19792	N	AEFBI	0.057378	0.10682	N	-1.0101002539611	0.08394	0.3933935	-0.91260570262717	0.11796	0.6031503	0.0487290325396525	0.14779	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.17	-0.986	0.09728	1.370000	0.33843	0.665000	0.20538	-0.050000	0.17177	0.838000	0.30254	0.004000	0.18990	0.983000	0.59808	0.4634:0.0:0.5366:0.0	10.217	0.42350	755	0.51144	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	33	chr9	77295818	.	A	G	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.057;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=-0.317;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	9	0	1	0
chr9	77323120	77323120	C	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon44:c.C5767T:p.R1923C,VPS13A:NM_001018038:exon45:c.C5884T:p.R1962C,VPS13A:NM_015186:exon45:c.C5884T:p.R1962C,VPS13A:NM_033305:exon45:c.C5884T:p.R1962C	Choreoacanthocytosis, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	319225	VPS13A-related_disorder|Chorea-acanthocytosis|not_specified|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	.	0.0046	0.00319489	0.0035	0.0013	0.0036	0.0001	0.0034	0.0050	0.0044	0.0006	0.003771	583	154602	rs149694033	0.0051	0.0051	0.0052	0.0049	0.0059	0.0050	0.0049	0.0058	0.0058	0.0010	0.0038	0.0015	5.044e-05	0.0030	0.0028	0.0059	0.0051	0.0009	0.0039	0.0039	0.0040	0.0038	0.0061	0.0037	0.0036	0.0056	0.0054	0.0010	0	0.0056	0.0012	0	0.0030	0.0068	0.0061	0.0085	0.0006	0.032	0.46129	D	0.169	0.34716	T	0.207	0.48223	B	0.04	0.45421	B	0.003255	0.35212	N	0.253760	0.999562	0.47592	D	1.785	0.46417	L	0.83	0.52867	T	-4.86	0.82764	D	0.357	0.39861	-1.0980	0.04341	T	0.052	0.21999	T	10	0.0094463825	0.00213	T	.	.	.	0.059	0.16972	.	.	0.600958532112	0.59777	0.6833365773300184	0.68272	0.177594186606	0.19982	0.464377254248	0.33910	T	0.790415	0.94549	D	-0.402666	0.02224	T	-0.346051	0.39658	T	0.0398385137480339	0.03662	T	0.937406	0.76468	D	0.19826503	0.41722	0.1963397	0.43359	0.21314391	0.43685	0.15810932	0.36937	-6.963	0.56785	T	.	.	0.095	0.15070	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.988651	0.39896	21.1	0.99896104805483166	0.96895	0.74298	0.36345	D	AEFGI	0.231237	0.35450	N	-0.151437685859879	0.35174	2.017003	-0.0583979840365752	0.37128	2.169836	0.018329195011994	0.13045	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.85	2.91	0.32903	1.126000	0.30958	0.612000	0.20040	0.599000	0.40250	0.977000	0.34929	0.225000	0.23742	0.956000	0.50813	0.5154:0.3475:0.0:0.1371	4.571	0.11603	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.015152	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	575.43	34	chr9	77323120	.	C	T	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.082;DP=361;ExcessHet=0;FS=1.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.812;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1000	9	0	1	0
chr9	77337362	77337362	G	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon46:c.G6086T:p.R2029I,VPS13A:NM_001018038:exon47:c.G6203T:p.R2068I,VPS13A:NM_015186:exon47:c.G6203T:p.R2068I,VPS13A:NM_033305:exon47:c.G6203T:p.R2068I	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0102514496953	.	.	8.395e-06	0	0	0	0	1.532e-05	0	0	6.5e-06	1	154602	rs758988617	6.847e-07	6.841e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.24090	T	0.385	0.33894	T	0.253	0.31412	B	0.168	0.36167	B	0.005347	0.32875	N	0.341692	0.983454	0.25291	N	2.28	0.64929	M	0.97	0.49068	T	-1.79	0.47344	N	0.295	0.33360	-1.0224	0.22932	T	0.098	0.36651	T	10	0.058402717	0.06860	T	0.010251	0.26566	T	0.039	0.10176	0.37	0.38013	0.319114376414	0.31517	0.4717645457171215	0.47095	0.313891519587	0.33679	0.228319883347	0.01846	T	0.377531	0.74069	T	-0.136315	0.30480	T	-0.433584	0.29529	T	0.277612090110779	0.24070	T	0.89651	0.63872	D	0.046739172	0.07874	0.05897707	0.10991	0.046739172	0.07874	0.05897707	0.10991	-4.431	0.30928	T	.	.	0.085	0.10400	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.299169	0.17006	12.90	0.70934722897143188	0.09460	0.03750	0.09054	N	AEFI	0.059156	0.11151	N	-0.827854196264862	0.12601	0.6152709	-0.913090170991526	0.11784	0.6024893	0.00163650861004326	0.08729	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.3	-0.841	0.10207	-0.138000	0.10353	-0.747000	0.07594	-0.106000	0.15538	0.009000	0.18154	0.000000	0.08366	0.447000	0.27828	0.5795:0.0:0.2856:0.1349	6.145	0.19495	638	0.64280	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	473.43	33	chr9	77337362	.	G	T	473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.901;DP=375;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=0.405;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	9	0	1	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K,VPS13A:NM_001018038:exon51:c.G7078A:p.E2360K,VPS13A:NM_015186:exon51:c.G7078A:p.E2360K,VPS13A:NM_033305:exon51:c.G7078A:p.E2360K	Choreoacanthocytosis, Autosomal recessive	7	1499	15	1	0	17	0.00563847	.	.	YES	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	663.43	33	chr9	77344204	.	G	A	663.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=361;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=0.101;SOR=0.553	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,905	9	0	1	0
chr9	81613457	81613457	G	A	exonic	TLE1	.	nonsynonymous SNV	TLE1:NM_001303103:exon12:c.C1013T:p.T338M,TLE1:NM_001303104:exon12:c.C983T:p.T328M,TLE1:NM_005077:exon12:c.C983T:p.T328M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	.	0.0016	0.00119808	0.0034	0.0004	0.0003	0	0.0272	0.0033	0.0099	6.056e-05	0.0030918	478	154602	rs144027618	0.0031	0.0031	0.0032	0.0030	0.0028	0.0030	0.0030	0.0027	0.0027	0.0004	0.0005	3.826e-05	2.519e-05	0.0233	0	0.0028	0.0021	9.275e-05	0.0035	0.0035	0.0022	0.0049	0.0027	0.0033	0.0032	0.0024	0.0022	0.0004	0	0.0003	0	0	0.0312	0	0.0027	0.0019	0	0.002	0.91255	D	0.015	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	3.02	0.86243	M	0.8	0.59449	T	-3.99	0.81514	D	0.625	0.69037	-0.2666	0.75905	T	0.336	0.70297	T	10	0.008703619	0.00197	T	.	.	.	0.380	0.69780	.	.	0.59497832424	0.59176	0.3596641938754536	0.35880	1.16821374417	0.79684	0.556075334549	0.46714	T	0.744577	0.92953	D	-0.226674	0.17090	T	-0.101429	0.63289	T	0.0386551671570358	0.03448	T	0.981402	0.93712	D	0.40206522	0.60876	0.38052922	0.63083	0.40206522	0.60876	0.38052922	0.63083	-4.112	0.25467	T	.	.	0.085	0.41280	B	.;.	.;.	5.631119	0.92675	32	0.9991615277806758	0.98449	0.95973	0.66961	D	AEFDBCIJ	0.916992	0.88398	D	0.876837127187402	0.90580	10.46875	0.856986584458213	0.93417	12.02916	0.999999999999856	0.74766	0.719381	0.83141	0	0.588015	0.36545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	5.5	5.5	0.81386	8.002000	0.88029	10.014000	0.83106	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.766	0.96341	969	0.06854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2159.43	34	chr9	81613457	.	G	A	2159.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=2.03;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1335	9	0	1	0
chr9	83062666	83062666	C	T	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon1:c.G202A:p.A68T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0587195836828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.40319	T	0.368	0.33109	T	0.958	0.90584	D	0.535	0.68407	P	0.001963	0.37549	N	0.226336	0.934676	0.37095	D	1.575	0.39704	L	1.47	0.31987	T	0.14	0.17417	N	0.381	0.44474	-0.9342	0.43515	T	0.124	0.42862	T	10	0.35876632	0.52561	T	0.05872	0.67417	D	0.102	0.29158	0.279	0.23323	0.435699915968	0.43186	0.35656757021086183	0.35570	0.552243147408	0.52039	0.832978963852	0.87019	D	0.028917	0.20835	T	-0.164444	0.26079	T	-0.473989	0.25089	T	0.886416435241699	0.53682	D	0.806719	0.45805	T	0.29959255	0.52869	0.18739627	0.41968	0.29959255	0.52868	0.18739627	0.41967	-2.352	0.26476	T	.	.	0.205	0.46331	B	.;.	.;.	3.715889	0.53073	23.3	0.9979247070006797	0.87839	0.77520	0.38124	D	AEFDBHCIJ	0.351514	0.44459	N	0.183377772703602	0.50400	3.230456	0.1681062279393	0.48110	3.031375	0.999999999969122	0.74766	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.72	4.72	0.59248	2.815000	0.47717	4.347000	0.43075	0.450000	0.21304	1.000000	0.71638	1.000000	0.68203	0.194000	0.21720	0.0:1.0:0.0:0.0	17.686	0.88161	953	0.10115	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1671.43	40	chr9	83062666	.	C	T	1671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.153;DP=465;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.5;SOR=0.955	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	9	0	1	0
chr9	83903259	83903259	G	A	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271927:exon4:c.C1259T:p.T420I,KIF27:NM_001271928:exon4:c.C1259T:p.T420I,KIF27:NM_017576:exon4:c.C1259T:p.T420I,KIF27:NM_001354069:exon5:c.C1259T:p.T420I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0272149963586	0.0002	.	0.0001	0.0005	0.0003	0	0	7.492e-05	0	6.056e-05	9.06e-05	14	154602	rs138516740	4.652e-05	4.652e-05	4.492e-05	4.813e-05	0.0003	3.727e-05	3.411e-05	0.0001	0.0001	0.0001	0.0002	0	0	0	0.0003	3.327e-05	0.0001	6.956e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0003	0.0011	0.0003	0	0	0	0.0068	0.0001	0	0	0.033	0.49613	D	0.187	0.28860	T	0.868	0.52277	P	0.235	0.47925	B	0.034931	0.24708	N	0.340710	0.999812	0.20249	N	2.14	0.59869	M	-0.47	0.70133	T	-2.95	0.61580	D	0.162	0.26475	-0.6705	0.61806	T	0.290	0.66211	T	10	0.07302135	0.10979	T	0.027215	0.50054	D	0.145	0.38592	.	.	0.547470054201	0.54402	0.21518297587262433	0.21434	0.151135903681	0.17061	0.417636990547	0.27512	T	0.101224	0.40777	T	-0.283742	0.10274	T	-0.339375	0.40416	T	0.0805241315922158	0.10054	T	0.867113	0.60617	D	0.17716736	0.38669	0.19990268	0.43894	0.17716736	0.38669	0.19990268	0.43893	-4.542	0.34823	T	.	.	0.184	0.39832	B	.;.;.	.;.;.	2.113953	0.26901	17.28	0.99842810250592307	0.92316	0.28367	0.23534	N	AEFGI	0.134143	0.25405	N	0.0482741405501989	0.44062	2.687255	0.0904123680202428	0.44065	2.695515	0.0161670913621694	0.12799	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	0.809000	0.26827	2.575000	0.33385	0.676000	0.76740	0.009000	0.18154	0.972000	0.29809	0.992000	0.67800	0.0731:0.0:0.9269:0.0	14.335	0.66137	980	0.04108	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1996.43	34	chr9	83903259	.	G	A	1996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=449;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=0.809;SOR=0.883	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	9	0	1	0
chr9	83939567	83939567	G	A	exonic	C9orf64	.	nonsynonymous SNV	C9orf64:NM_032307:exon4:c.C970T:p.H324Y,C9orf64:NM_001317997:exon5:c.C547T:p.H183Y	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00635122131194	0.0013	0.000599042	0.0015	0.0007	0.0003	0.0001	0.0003	0.0022	0.0011	0.0008	0.0014748	228	154602	rs145133489	0.0022	0.0022	0.0021	0.0022	0.0026	0.0021	0.0021	0.0025	0.0025	0.0003	0.0005	3.826e-05	0	0.0005	0.0012	0.0026	0.0015	0.0012	0.0015	0.0015	0.0015	0.0016	0.0028	0.0014	0.0013	0.0025	0.0024	0.0005	0	0.0012	0	0	9.432e-05	0	0.0028	0.0009	0.0006	0.184	0.21634	T	0.324	0.22084	T	0.151	0.28027	B	0.077	0.28532	B	0.000000	0.84330	D	0.048217	0.999998	0.58761	D	.	.	.	.	.	.	-2.76	0.65858	D	0.35	0.39153	-1.0182	0.24301	T	0.112	0.40052	T	9	0.011564493	0.00252	T	0.006351	0.16696	T	0.143	0.38195	.	.	0.305730143919	0.30178	0.8313667699374903	0.83095	0.490409126362	0.47766	.	.	.	0.047888	0.32171	T	-0.305758	0.08128	T	-0.205437	0.54130	T	0.0280259099603527	0.01691	T	0.788521	0.42806	T	0.30710843	0.53535	0.33125296	0.58986	0.30710843	0.53535	0.33125296	0.58986	-5.29	0.39844	T	.	.	0.133	0.28778	B	.;.	.;.	3.966575	0.58211	24.0	0.98192822149566383	0.39053	0.97195	0.73250	D	AEFBI	0.818925	0.74006	D	-0.0686166156842113	0.38775	2.27622	0.148965412128061	0.47087	2.944289	0.998646473739163	0.37371	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.39	5.39	0.77615	6.771000	0.74791	11.614000	0.93566	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0749:0.0:0.9251:0.0	12.848	0.57225	961	0.08552	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2029.43	33	chr9	83939567	.	G	A	2029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.13;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.581;SOR=0.731	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	9	0	1	0
chr9	84002574	84002574	A	G	exonic	RMI1	.	nonsynonymous SNV	RMI1:NM_001358291:exon3:c.A1588G:p.I530V,RMI1:NM_001358294:exon3:c.A1588G:p.I530V,RMI1:NM_024945:exon3:c.A1588G:p.I530V,RMI1:NM_001358292:exon4:c.A1588G:p.I530V,RMI1:NM_001358293:exon4:c.A1588G:p.I530V	.	.	.	.	.	.	.	.	.	.	.	3211227	RMI1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00627259642293	0.0007	0.00219649	0.0006	0.0046	0.0004	0	0	0.0003	0	0.0001	0.0006533	101	154602	rs148663552	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0003	0.0036	0.0034	0.0042	0.0006	0	0	0	0.0019	0.0002	0.0007	6.956e-05	0.0016	0.0016	0.0018	0.0014	0.0046	0.0014	0.0014	0.0041	0.0039	0.0046	0.0044	0.0010	0	0	0	0.0068	0.0004	0.0014	0	0.66	0.04699	T	0.427	0.13832	T	0.001	0.07471	B	0.001	0.04355	B	0.118641	0.19107	N	0.538057	0.999536	0.21028	N	0.115	0.08564	N	1.67	0.27331	T	-0.24	0.10833	N	0.076	0.05037	-1.0267	0.21527	T	0.014	0.05705	T	9	0.0038154721	0.00072	T	0.006273	0.16464	T	0.033	0.08068	.	.	0.171388866994	0.16791	0.23856630255959738	0.23770	0.0634816996295	0.07066	0.304292231798	0.11044	T	0.063838	0.32279	T	-0.651828	0.00071	T	-0.707302	0.05435	T	0.00195745040701494	0.00020	T	0.562444	0.19755	T	0.06653665	0.14324	0.04339447	0.05390	0.06653665	0.14324	0.04339447	0.05390	-4.059	0.24683	T	.	.	0.063	0.01449	B	.	.	0.923165	0.12983	9.487	0.6785772655638076	0.08481	0.40650	0.26483	N	AEFDGBI	0.055342	0.10140	N	-1.00649680399952	0.08468	0.3971698	-0.898613724633751	0.12127	0.6219934	0.999998508330077	0.74766	0.741868	0.97996	0	0.774882	0.99574	0	0.709663	0.75317	0	0.503917	0.08554	0	.	.	5.29	-6.37	0.01790	0.073000	0.14504	-0.023000	0.12899	-0.050000	0.17177	0.947000	0.32937	0.043000	0.21642	0.998000	0.85391	0.329:0.1005:0.3734:0.1971	2.587	0.04541	957	0.09725	Recq-mediated genome instability protein 1, C-terminal OB-fold domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1629.43	35	chr9	84002574	.	A	G	1629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.428;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-2.023;SOR=0.652	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr9	84297263	84297263	A	T	exonic	SLC28A3	.	nonsynonymous SNV	SLC28A3:NM_001199633:exon8:c.T819A:p.F273L,SLC28A3:NM_022127:exon9:c.T819A:p.F273L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.579	0.0598854769242	.	.	8.313e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs773158501	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.022	0.57587	D	0.996	0.68779	D	0.954	0.69447	D	0.000001	0.84330	D	0.057044	0.999827	0.50806	D	3.005	0.85968	M	0.89	0.45636	T	-5.68	0.87223	D	0.941	0.94786	-0.7625	0.57269	T	0.217	0.57915	T	10	0.94968724	0.94301	D	0.059885	0.67815	D	0.579	0.83024	0.843	0.94784	0.107399877778	0.10242	0.8443930943990917	0.84400	0.768364881018	0.64644	0.644263267517	0.59170	T	0.190898	0.54557	T	0.244437	0.78077	D	0.113341	0.77794	D	0.996744394302368	0.89989	D	0.920908	0.71352	D	0.9677452	0.98048	0.88251185	0.93738	0.9677452	0.98048	0.88251185	0.93739	-10.835	0.78745	D	.	.	0.958	0.87767	P	.	.	3.090708	0.41615	21.4	0.99726779001170585	0.82477	0.88690	0.48738	D	AEFDGBCIJ	0.291558	0.40265	N	0.154518670730322	0.49025	3.107687	0.0568601103987331	0.42404	2.564244	0.999992317995443	0.74766	0.446893	0.09132	0	0.468601	0.06657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.57	0.631	0.16871	1.276000	0.32760	1.127000	0.24293	-0.051000	0.17024	1.000000	0.71638	0.993000	0.31925	0.993000	0.69303	0.7246:0.0:0.2754:0.0	8.737	0.33697	884	0.28482	Concentrative nucleoside transporter N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	529.43	33	chr9	84297263	.	A	T	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.513;SOR=0.813	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1392	9	0	1	0
chr9	85547151	85547151	T	G	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon25:c.A3795C:p.E1265D,AGTPBP1:NM_001286717:exon25:c.A3675C:p.E1225D,AGTPBP1:NM_001330701:exon26:c.A3639C:p.E1213D,AGTPBP1:NM_015239:exon26:c.A3519C:p.E1173D	.	436	1065	21	0	0	21	0.0097629	.	.	.	2826179	not_provided|AGTPBP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00355621111511	0.0048	0.00299521	0.0048	0.0008	0.0042	0	0.0009	0.0071	0.0077	0.0021	0.0048835	755	154602	rs138412470	0.0057	0.0057	0.0058	0.0056	0.0134	0.0056	0.0056	0.0110	0.0101	0.0010	0.0053	0.0068	2.527e-05	0.0009	0.0134	0.0064	0.0068	0.0021	0.0041	0.0041	0.0045	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0011	0	0.0042	0.0058	0.0002	0.0008	0.0068	0.0069	0.0057	0.0021	0.578	0.06891	T	1.0	0.01155	T	0.0	0.09854	B	0.001	0.10090	B	0.000653	0.42656	D	0.237618	0.739208	0.81001	D	-0.745	0.01742	N	2.33	0.16492	T	0.04	0.06488	N	0.086	0.06322	-0.9918	0.32141	T	0.010	0.03765	T	10	0.0020323396	0.00029	T	0.003556	0.08092	T	0.031	0.07369	0.095	0.01241	0.210429274316	0.20668	0.06835794157517444	0.06773	0.0499190563803	0.05480	0.397492229939	0.24720	T	0.044675	0.26888	T	-0.684849	0.00045	T	-0.75237	0.03395	T	0.00168903351854802	0.00017	T	0.784022	0.42156	T	0.051265713	0.09390	0.05631082	0.10038	0.05875675	0.11859	0.039692342	0.04121	-3.78	0.20581	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	1.274184	0.16732	12.73	0.9036468242379625	0.19628	0.65813	0.32864	D	AEFGI	0.109382	0.21727	N	-0.567870922523877	0.19926	1.046693	-0.339500698144633	0.26835	1.484911	0.33460800686151	0.19521	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	2.29	0.27658	0.311000	0.19129	0.814000	0.21781	0.665000	0.62972	0.932000	0.32345	0.875000	0.27637	0.993000	0.69303	0.1833:0.0:0.2101:0.6066	6.560	0.21680	951	0.11083	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008569	0.000000	0.009511	0.014706	0.050000	0.000000	0.009146	0.011364	0.05	1309.43	33	chr9	85547151	.	T	G	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.544;DP=432;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.045;SOR=0.774	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	9	0	1	0
chr9	86018822	86018822	G	C	splicing	NAA35	NM_001321881:exon21:c.2037+1G>C;NM_024635:exon21:c.2037+1G>C;NM_001321882:exon21:c.2037+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353356	0.86736	D	0.269795	0.86563	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192679	0.94764	34	0.9954556175864131	0.70773	0.99856	0.99854	D	AEFBI	.	.	.	1.15891206100683	0.99082	20.59108	0.998694741300778	0.98602	18.76144	0.999999999999889	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.137589	0.03823	0	0.109871	0.03346	0	0.987846	0.96420	5.5	5.5	0.81386	9.434000	0.96726	11.731000	0.94998	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.387	0.94553	917	0.20147	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	839.95	35	chr9	86018822	.	G	C	839.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.846;DP=779;ExcessHet=7.0302;FS=147.352;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.58;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,12:61:74:0|1:86018822_G_C:74,0,1395:86018822	3	0	7	0
chr9	86046538	86046538	C	G	exonic	GOLM1	.	nonsynonymous SNV	GOLM1:NM_016548:exon5:c.G399C:p.R133S,GOLM1:NM_177937:exon5:c.G399C:p.R133S	.	430	1064	28	0	0	28	0.012987	.	.	.	2826181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.081	.	0.0018	0.00299521	0.0045	0.0009	0.0044	0	0	0.0029	0.005	0.0174	0.003564	551	154602	rs140984957	0.0030	0.0031	0.0026	0.0035	0.0160	0.0030	0.0029	0.0153	0.0150	0.0006	0.0026	0.0079	0	1.873e-05	0.0090	0.0022	0.0033	0.0160	0.0022	0.0022	0.0024	0.0020	0.0122	0.0020	0.0019	0.0097	0.0088	0.0010	0	0.0036	0.0078	0.0006	0	0.0068	0.0021	0.0052	0.0122	0.15	0.24661	T	0.092	0.39954	T	0.01	0.15535	B	0.013	0.16460	B	0.112196	0.19368	N	0.554792	0.99983	0.20203	N	1.525	0.38595	L	1.05	0.39990	T	-2.86	0.60188	D	0.217	0.24260	-1.0431	0.16383	T	0.053	0.22307	T	10	0.006363988	0.00144	T	.	.	.	0.081	0.23632	0.18	0.08751	0.221734844693	0.21761	0.05271433561658003	0.05213	0.152621739343	0.17216	0.287026971579	0.08491	T	0.422817	0.77377	T	-0.561682	0.00248	T	-0.56662	0.15760	T	0.011707742043697	0.00179	T	0.722728	0.33613	T	0.13586207	0.31516	0.09560074	0.22681	0.13586207	0.31516	0.09560074	0.22680	-3.213	0.12640	T	.	.	0.253	0.48807	B	.;.	.;.	2.344900	0.30055	18.32	0.99020940272567248	0.50569	0.12262	0.17160	N	AEFDBHCI	0.150962	0.27535	N	-0.681197705656371	0.16558	0.8446677	-0.672908185262094	0.17640	0.9388459	0.951063994106124	0.27934	0.706548	0.73137	0	0.670034	0.63936	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.87	0.305	0.15048	-0.302000	0.08259	-0.128000	0.11649	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.980000	0.58198	0.1526:0.4128:0.1482:0.2864	1.122	0.01620	924	0.18029	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.022727	0.05	1391.43	121	chr9	86046538	.	C	G	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.9;DP=443;ExcessHet=0;FS=3.283;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.062;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	9	0	1	0
chr9	87886225	87886225	G	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G1738A:p.V580I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0066881980533	.	.	8.292e-06	0	8.642e-05	0	0	0	0	0	6.5e-06	1	154602	rs775005835	1.368e-06	1.368e-06	2.723e-06	0	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.233	0.24913	T	0.074	0.24142	B	0.043	0.24256	B	0.017306	0.01462	N	2.606050	1	0.08975	N	0.475	0.13142	N	3.29	0.06445	T	-0.76	0.21215	N	0.066	0.03841	-1.0167	0.24787	T	0.009	0.03359	T	10	0.040711373	0.02663	T	0.006688	0.17671	T	0.010	0.01040	0.346	0.34112	0.0401082797425	0.02173	0.03546651431128592	0.03493	0.0108165658302	0.01002	0.491160988808	0.37599	T	0.001272	0.00758	T	-0.442629	0.01248	T	-0.790717	0.02145	T	0.0762349577251496	0.09498	T	0.327267	0.06786	T	0.029890088	0.02559	0.02857471	0.01105	0.029890088	0.02558	0.02857471	0.01105	-3.259	0.13214	T	.	.	0.104	0.18950	B	.	.	0.207269	0.05911	2.353	0.38109870486167741	0.02551	0.00242	0.01343	N	AEFBI	0.023604	0.01338	N	-1.24930923560901	0.04309	0.1942169	-1.33566314047653	0.03978	0.1866709	0.750711025430957	0.23355	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.51	-0.794	0.10367	0.413000	0.20869	-20.000000	0.00162	-0.970000	0.01946	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1465:0.0:0.3942:0.4593	3.182	0.06195	957	0.09725	SPATA31/FAM205	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2174.43	34	chr9	87886225	.	G	A	2174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=600;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=-0.537;SOR=0.816	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	9	0	1	0
chr9	87887555	87887555	G	A	exonic	SPATA31E1	.	nonsynonymous SNV	SPATA31E1:NM_178828:exon4:c.G3068A:p.G1023E	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00579308216334	0.0009	0.000399361	0.0013	0.0003	0.0003	0	0.0002	0.0017	0	0.0023	0.0011837	183	154602	rs146606700	0.0014	0.0014	0.0014	0.0015	0.0023	0.0014	0.0013	0.0020	0.0019	0.0002	0.0004	7.652e-05	0	0.0005	0.0023	0.0016	0.0009	0.0023	0.0010	0.0010	0.0012	0.0009	0.0023	0.0009	0.0009	0.0016	0.0015	0.0002	0	0.0003	0	0	0.0002	0	0.0019	0.0028	0.0023	0.008	0.58626	D	0.055	0.46862	T	0.571	0.38591	P	0.28	0.40294	B	0.000937	0.00711	N	3.781800	1	0.08975	N	0.83	0.20963	L	3.99	0.03268	T	-1.98	0.45769	N	0.087	0.06454	-1.0049	0.28487	T	0.007	0.02360	T	10	0.008343488	0.00189	T	0.005793	0.15042	T	0.074	0.21613	.	.	0.0920862733494	0.08535	0.1325441135121032	0.13178	0.0157298792778	0.01500	0.469676017761	0.34635	T	0.007684	0.07071	T	-0.682793	0.00046	T	-0.758177	0.03178	T	0.0190963003832645	0.00617	T	0.316468	0.06291	T	0.12340435	0.28978	0.12582357	0.30311	0.12340435	0.28978	0.12582357	0.30310	-3.928	0.22723	T	.	.	0.198	0.41992	B	.	.	0.781498	0.11518	8.115	0.7279685801551482	0.10099	0.00390	0.01961	N	AEFBI	0.032148	0.03575	N	-1.25874770870642	0.04186	0.1884272	-1.41302941789753	0.03121	0.1449738	0.197073214333775	0.18073	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.05	-4.22	0.03541	-0.006000	0.12769	-15.955000	0.00333	-0.305000	0.06155	0.006000	0.17386	0.000000	0.08366	0.004000	0.06068	0.4448:0.158:0.2373:0.1599	1.131	0.01637	955	0.09969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1329.43	34	chr9	87887555	.	G	A	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=540;ExcessHet=0;FS=2.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=1.98;SOR=0.868	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	9	0	1	0
chr9	87919255	87919255	C	T	exonic	SPATA31C1	.	nonsynonymous SNV	SPATA31C1:NM_001145124:exon2:c.C190T:p.R64C	.	368	1127	21	5	1	32	0.0135667	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0019	0	0.0002	0	0	0.0002	0.0022	0.0122	0.0007684	20	26028	rs199847889	0.0008	0.0008	0.0005	0.0012	0.0117	0.0008	0.0008	0.0111	0.0109	0	6.905e-05	0	2.729e-05	3.83e-05	0.0037	6.963e-05	0.0010	0.0117	0.0005	0.0005	0.0003	0.0008	0.0132	0.0004	0.0004	0.0106	0.0097	0	0	0.0003	0	0	0	0.0068	0.0001	0.0005	0.0132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004640	0.000000	0.001370	0.000000	0.062500	0.000000	0.007407	0.016393	0.05	5681.43	518	chr9	87919255	.	C	T	5681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=2664;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0;QD=10.27;ReadPosRankSum=0.433;SOR=0.783	GT:AD:DP:GQ:PL	0/1:297,256:553:99:5693,0,6428	9	0	1	0
chr9	87923071	87923071	G	T	exonic	SPATA31C1	.	nonsynonymous SNV	SPATA31C1:NM_001145124:exon4:c.G3164T:p.S1055I	.	426	1045	48	3	0	54	0.0251866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0028	0.00399361	0.0043	0.0003	0.0040	0	0.0006	0.0034	0.0067	0.0139	0.0035705	552	154602	rs376807700	0.0027	0.0027	0.0022	0.0032	0.0231	0.0026	0.0026	0.0199	0.0187	0.0002	0.0032	0.0112	0	0.0004	0.0231	0.0017	0.0043	0.0139	0.0022	0.0022	0.0020	0.0025	0.0143	0.0020	0.0019	0.0116	0.0106	0.0003	0	0.0037	0.0107	0	0.0002	0.0170	0.0022	0.0038	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018765	0.016949	0.012329	0.017699	0.100000	0.017544	0.023077	0.037190	0.05	3110.43	35	chr9	87923071	.	G	T	3110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.281;DP=727;ExcessHet=0;FS=3.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.39;MQRankSum=-11.14;QD=10.65;ReadPosRankSum=-0.105;SOR=0.922	GT:AD:DP:GQ:PL	0/1:159,133:292:99:3122,0,3861	9	0	1	0
chr9	88129634	88129634	A	G	exonic	SPATA31C2	.	stoploss	SPATA31C2:NM_001166137:exon4:c.T3403C:p.X1135Q,SPATA31C2:NM_001350978:exon4:c.T3403C:p.X1135Q	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1433687331	0.0009	0.0013	0.0009	0.0009	0.0032	0.0009	0.0008	0.0021	0.0017	0.0005	0.0017	0.0004	0.0004	0.0004	0.0032	0.0008	0.0017	0.0016	0.0020	0.0031	0.0022	0.0019	0.0030	0.0019	0.0018	0.0027	0.0026	0.0013	0.0044	0.0018	0.0012	0.0008	0.0002	0.0068	0.0030	0.0010	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	399.43	49	chr9	88129634	.	A	G	399.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.49;DP=487;ExcessHet=0;FS=60.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.8;MQRankSum=-6.407;QD=2.74;ReadPosRankSum=-2.919;SOR=6.331	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1429	9	0	1	0
chr9	88130935	88130935	A	G	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.T2102C:p.V701A,SPATA31C2:NM_001350978:exon4:c.T2102C:p.V701A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.411e-05	0	0	0.0003	0	3.057e-05	0	0.0003	6.47e-05	10	154602	rs781756590	5.406e-05	5.404e-05	5.856e-05	4.952e-05	0.0002	4.412e-05	4.084e-05	0.0001	0.0001	2.989e-05	0	0	5.038e-05	0	0	4.947e-05	6.63e-05	0.0002	3.942e-05	3.94e-05	5.138e-05	2.69e-05	8.818e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.818e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1714.43	38	chr9	88130935	.	A	G	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=530;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.14;MQRankSum=-0.259;QD=11.82;ReadPosRankSum=-0.999;SOR=0.743	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1429	9	0	1	0
chr9	88132330	88132330	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G707A:p.R236Q,SPATA31C2:NM_001350978:exon4:c.G707A:p.R236Q	.	415	1076	28	3	0	34	0.0155535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0017	0.0002	0.0006	0	0	0.0002	0.0033	0.0109	0.0014489	224	154602	rs538555577	0.0008	0.0008	0.0005	0.0012	0.0116	0.0008	0.0008	0.0110	0.0108	0	0.0003	0	2.527e-05	0	0.0041	9.641e-05	0.0010	0.0116	0.0005	0.0005	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006757	0.000000	0.002725	0.000000	0.062500	0.008621	0.010274	0.020161	0.05	2969.43	38	chr9	88132330	.	C	T	2969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.941;DP=571;ExcessHet=0;FS=1.057;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.86;MQRankSum=-1.958;QD=13.88;ReadPosRankSum=0.13;SOR=0.618	GT:AD:DP:GQ:PL	0/1:98,116:214:99:2981,0,2273	9	0	1	0
chr9	89001700	89001700	C	T	exonic	S1PR3	.	nonsynonymous SNV	S1PR3:NM_005226:exon2:c.C500T:p.T167M	.	422	1083	17	0	0	17	0.00778745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0022	0.00139776	0.0053	0.0006	0.0013	0	0.0206	0.0056	0.0110	0.0061	0.0045989	711	154602	rs41287347	0.0035	0.0035	0.0033	0.0036	0.0066	0.0034	0.0034	0.0061	0.0059	0.0005	0.0019	0.0100	0	0.0197	0.0066	0.0025	0.0039	0.0066	0.0037	0.0037	0.0027	0.0046	0.0048	0.0034	0.0033	0.0033	0.0028	0.0004	0	0.0012	0.0112	0	0.0232	0.0102	0.0030	0.0028	0.0048	0.012	0.54683	D	0.08	0.41913	T	0.914	0.50529	P	0.318	0.41660	B	0.064011	0.21983	N	0.453721	1	0.08975	N	0.55	0.14455	N	1.2	0.37405	T	1.03	0.01350	N	0.141	0.14763	-1.0749	0.08369	T	0.055	0.23186	T	10	0.007697046	0.00175	T	.	.	.	0.052	0.14661	.	.	0.595389996124	0.59217	0.4285408765478264	0.42771	0.819455966985	0.67094	0.455557107925	0.32703	T	0.036818	0.24246	T	-0.498314	0.00584	T	-0.485958	0.23815	T	0.0127413518071339	0.00215	T	0.907809	0.67374	D	0.03762388	0.04859	0.05996719	0.11343	0.03762388	0.04859	0.05996719	0.11342	-5.116	0.38075	T	.	.	0.089	0.12181	B	.;.	.;.	1.799461	0.22873	15.80	0.99173083875404244	0.54441	0.33857	0.24929	N	AEFDGBCIJ	0.124550	0.24065	N	-0.20999165311127	0.32724	1.848587	-0.289747021831024	0.28435	1.585462	0.99999975762062	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.41	3.58	0.40133	2.139000	0.41773	2.094000	0.30565	0.599000	0.40250	0.042000	0.21073	0.688000	0.26159	0.334000	0.25294	0.0:0.8584:0.0:0.1416	11.716	0.50919	734	0.53889	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.014946	0.008772	0.000000	0.000000	0.006098	0.015152	0.05	2191.43	33	chr9	89001700	.	C	T	2191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.232;DP=523;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.727;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1030	9	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:238,149:414:99:840,0,3511	0	0	10	0
chr9	92186775	92186775	C	G	exonic	PRSS47	.	nonsynonymous SNV	PRSS47:NM_001350291:exon4:c.G589C:p.G197R	.	555	924	41	2	0	45	0.0237718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	.	.	.	.	.	.	.	.	0.0016559	256	154602	rs75298708	0.0156	0.0005	0.0179	0.0133	0.0269	0.0122	0.0109	0.0206	0.0183	0.0250	0	0	0	0.0014	0.0269	0	0.0082	0.0109	0.0082	0.0082	0.0084	0.0080	0.0146	0.0079	0.0077	0.0118	0.0108	0.0013	0.0570	0.0067	0.0378	0.0133	0.0022	0.0340	0.0106	0.0095	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	68.21	1	chr9	92186775	.	C	G	68.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=40;ExcessHet=0;FS=0;InbreedingCoeff=-0.1183;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.74;ReadPosRankSum=0;SOR=1.112	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,170	9	0	1	0
chr9	92466381	92466381	C	T	exonic	ASPN	.	nonsynonymous SNV	ASPN:NM_001193335:exon5:c.G575A:p.G192E,ASPN:NM_017680:exon5:c.G575A:p.G192E	.	448	1068	6	0	0	6	0.00280112	.	.	.	3192518	ASPN-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.626	.	0.0072	0.00299521	0.0074	0.0018	0.0023	0	0.0088	0.0108	0.0056	0.0042	0.0073479	1136	154602	rs41278695	0.0093	0.0094	0.0094	0.0092	0.0107	0.0092	0.0091	0.0106	0.0105	0.0014	0.0038	0.0012	2.524e-05	0.0106	0.0025	0.0107	0.0071	0.0045	0.0075	0.0075	0.0075	0.0074	0.0119	0.0071	0.0070	0.0113	0.0110	0.0023	0.0011	0.0050	0.0014	0.0002	0.0096	0	0.0119	0.0080	0.0056	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	2.445	0.70938	M	0.18	0.60361	T	-6.02	0.89684	D	0.896	0.89577	-0.0723	0.80727	T	0.396	0.74872	T	10	0.019685864	0.00443	T	.	.	.	0.626	0.85563	.	.	0.973384217241	0.97309	.	.	0.864070788575	0.69114	0.7205311656	0.70124	T	0.224825	0.58938	T	-0.0153495	0.49513	T	0.217499	0.84048	D	0.0520914603284572	0.05863	T	0.89931	0.64723	D	0.87072796	0.88919	0.8910737	0.94343	0.87072796	0.88920	0.8910737	0.94344	-7.968	0.60852	D	.	.	0.283	0.57380	B	.;.	.;.	4.856642	0.79435	27.1	0.99790906309619631	0.87661	0.99418	0.95776	D	AEFI	0.959754	0.98023	D	0.868788919448254	0.90150	10.27502	0.856817839053557	0.93408	12.02286	0.999999999999436	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.72	5.72	0.89380	7.568000	0.81546	7.673000	0.64890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.269	0.98466	976	0.04745	.;.	.	.	.	.	rs41278695	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	635.43	43	chr9	92466381	.	C	T	635.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.098;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=0.764;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr9	92522719	92522719	T	C	exonic	ECM2	.	nonsynonymous SNV	ECM2:NM_001197295:exon2:c.A148G:p.N50D,ECM2:NM_001197296:exon2:c.A148G:p.N50D,ECM2:NM_001393:exon2:c.A148G:p.N50D	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00198204966881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047748391	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.19782	T	0.668	0.07037	T	0.0	0.02946	B	0.002	0.06944	B	0.438216	0.04744	N	1.325750	1	0.08975	N	0.69	0.16971	N	1.51	0.30937	T	-0.54	0.22078	N	0.108	0.09349	-1.0157	0.25110	T	0.034	0.14639	T	10	0.07022607	0.10186	T	0.001982	0.03562	T	0.081	0.23632	0.129	0.03412	0.28297238246	0.27903	0.21793361606735998	0.21709	0.0677513762083	0.07582	0.222169816494	0.01439	T	0.002827	0.02217	T	-0.36763	0.03715	T	-0.765852	0.02906	T	0.817092895507812	0.47557	D	0.629737	0.26183	T	0.06484647	0.13799	0.08232154	0.18780	0.06484647	0.13799	0.08232154	0.18779	-4.239	0.27966	T	.	.	0.093	0.14108	B	.;.;.;.	.;.;.;.	0.987606	0.13652	10.19	0.95800494607201692	0.27857	0.06904	0.12930	N	AEFDGBCI	0.130808	0.24951	N	-1.08739340793951	0.06874	0.3177296	-1.06838394661996	0.08329	0.4090117	0.959846345846285	0.28451	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.58	-2.86	0.05376	0.319000	0.19270	-0.179000	0.11150	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.2608:0.345:0.3942	6.644	0.22116	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2229.43	150	chr9	92522719	.	T	C	2229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.601;DP=952;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=1.79;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:73,0:73:99:.:.:0,120,1800:.	9	0	1	0
chr9	92729208	92729208	T	C	exonic	BICD2	.	nonsynonymous SNV	BICD2:NM_001003800:exon2:c.A269G:p.K90R,BICD2:NM_015250:exon2:c.A269G:p.K90R	Spinal muscular atrophy, lower extremity-predominant, 2, AD, Autosomal dominant	431	1086	5	0	0	5	0.00229674	.	.	.	236923	Inborn_genetic_diseases|Autosomal_dominant_childhood-onset_proximal_spinal_muscular_atrophy_with_contractures|not_provided|Hereditary_spastic_paraplegia|BICD2-related_disorder|Neuronopathy,_distal_hereditary_motor,_autosomal_dominant|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014121,MedGen:C4747715,OMIM:615290,Orphanet:363447,Orphanet:363454|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|.|MONDO:MONDO:0015362,MedGen:C5548212,OMIM:PS182960,Orphanet:140465|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.00780847447494	0.0040	0.00119808	0.0047	0.0010	0.0010	0	0.0070	0.0067	0.0044	0.0033	0.0046507	719	154602	rs61754130	0.0057	0.0057	0.0057	0.0056	0.0064	0.0056	0.0055	0.0063	0.0062	0.0005	0.0015	0.0008	0	0.0086	0.0014	0.0064	0.0039	0.0039	0.0043	0.0043	0.0044	0.0043	0.0072	0.0041	0.0040	0.0067	0.0065	0.0011	0.0011	0.0010	0.0003	0.0002	0.0074	0	0.0072	0.0038	0.0041	0.706	0.05341	T	0.661	0.06490	T	0.001	0.09854	B	0.002	0.11217	B	0.000025	0.55875	N	0.155766	0.924808	0.36786	D	-0.365	0.03101	N	1.02	0.40749	T	-0.52	0.16187	N	0.214	0.23884	-1.0699	0.09436	T	0.037	0.16029	T	10	0.009992003	0.00224	T	0.007808	0.20720	T	0.051	0.14325	.	.	0.744016184196	0.74171	0.09260096640162291	0.09192	0.4444184419	0.44352	0.54843300581	0.45636	T	0.251322	0.62155	T	-0.63351	0.00091	T	-0.678624	0.07068	T	0.00664532987707668	0.00074	T	0.838016	0.51077	T	0.071839675	0.15934	0.058168314	0.10702	0.068215445	0.14841	0.05477073	0.09482	-2.871	0.09457	T	.	.	0.070	0.03588	B	.;.	.;.	2.380024	0.30549	18.47	0.78508673721265021	0.12331	0.63765	0.32192	D	AEFGBHCI	0.191231	0.31843	N	-0.441412537170882	0.24032	1.294791	-0.230825291135265	0.30438	1.713779	0.999999991391186	0.74766	0.736574	0.97449	0	0.696144	0.67643	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	5.27	4.09	0.47038	1.661000	0.37024	6.079000	0.53329	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.1014:0.0:0.8986	8.630	0.33072	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	748.43	34	chr9	92729208	.	T	C	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.228;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.411;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1067	9	0	1	0
chr9	93308387	93308387	G	A	exonic	WNK2	.	nonsynonymous SNV	WNK2:NM_006648:exon27:c.G6319A:p.V2107I,WNK2:NM_001282394:exon28:c.G6430A:p.V2144I	.	422	1057	40	3	0	46	0.0212963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0052	0.00459265	0.0139	0.0154	0.0126	0	0.0018	0.0083	0.0177	0.0248	0.0041655	644	154602	rs61753907	0.0037	0.0037	0.0031	0.0043	0.0189	0.0036	0.0036	0.0181	0.0178	0.0093	0.0021	0.0040	0	0.0004	0.0181	0.0026	0.0041	0.0189	0.0051	0.0051	0.0049	0.0053	0.0159	0.0048	0.0047	0.0131	0.0120	0.0097	0.0044	0.0022	0.0052	0.0002	0.0004	0.0170	0.0032	0.0057	0.0159	0.225	0.18626	T	0.269	0.22426	T	0.68	0.41398	P	0.027	0.21085	B	0.001579	0.38612	N	0.176617	0.964912	0.81001	D	0.77	0.19370	N	-0.64	0.72125	T	-0.48	0.15782	N	0.066	0.08506	-0.9123	0.46569	T	0.142	0.46257	T	10	0.0041105747	0.00081	T	.	.	.	0.038	0.09825	.	.	0.284112513307	0.28011	0.07511304711046102	0.07447	0.111281827237	0.12551	0.329964995384	0.14929	T	0.042073	0.26065	T	-0.454325	0.01065	T	-0.410446	0.32173	T	0.00785497846881361	0.00092	T	0.776522	0.40920	T	0.051192675	0.09364	0.050252013	0.07850	0.047571544	0.08154	0.052882336	0.08800	-4.506	0.30967	T	.	.	0.080	0.07889	B	.;.	.;.	2.128572	0.27101	17.35	0.99328685768852176	0.59700	0.95908	0.66673	D	AEFBI	0.625359	0.60859	D	-0.0761293898034714	0.38442	2.251537	0.0413767641950699	0.41656	2.506365	0.99996638673327	0.48965	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	5.45	3.58	0.40133	3.571000	0.53586	2.039000	0.30291	0.676000	0.76740	1.000000	0.71638	0.969000	0.29651	0.988000	0.63387	0.1534:0.0:0.8466:0.0	11.070	0.47216	908	0.22609	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.011111	0.005102	0.004098	0.011765	0.000000	0.000000	0.015337	0.034091	0.1	3504.14	115	chr9	93308387	.	G	A	3504.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.16;DP=563;ExcessHet=0.2348;FS=0.447;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.26;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1051	8	0	2	0
chr9	93676716	93676716	-	ACCACCCCTGCCTCC	exonic	PHF2	.	nonframeshift insertion	PHF2:NM_005392:exon21:c.2955_2956insACCACCCCTGCCTCC:p.T996_S997insTPAST	.	507	986	24	5	0	34	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6675	.	0.0115	0	0	0	0	0.0076	0.02	0.0224	0.000461	12	26028	.	0.0102	0.0065	0.0089	0.0115	0.0303	0.0100	0.0099	0.0291	0.0286	0.0013	0.0043	0.0408	8.54e-05	0.0041	0.0225	0.0067	0.0121	0.0303	0.0095	0.0081	0.0076	0.0112	0.0273	0.0088	0.0085	0.0227	0.0210	0.0012	0	0.0074	0.0640	0.0008	0.0112	0.0139	0.0079	0.0133	0.0273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1014.01	39	chr9	93676716	.	T	TACCACCCCTGCCTCC	1014.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.835;DP=524;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-0.433;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1071:.	8	0	1	1
chr9	94301001	94301002	AG	-	exonic	ZNF169	.	frameshift deletion	ZNF169:NM_001301275:exon5:c.870_871del:p.K293Afs*14,ZNF169:NM_003448:exon5:c.1446_1447del:p.K485Afs*14,ZNF169:NM_194320:exon5:c.1443_1444del:p.K484Afs*14	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	4.942e-05	0.0003	0	0	0	2.997e-05	0.0011	0	3.88e-05	6	154602	rs745852316	3.078e-05	3.078e-05	3.131e-05	3.025e-05	0.0001	2.347e-05	2.095e-05	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	3.327e-05	3.312e-05	1.159e-05	5.916e-05	5.911e-05	6.427e-05	5.381e-05	0.0001	3.078e-05	2.211e-05	6.287e-05	4.302e-05	0.0001	0	0.0001	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3768.39	36	chr9	94301000	.	CAG	C	3768.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.06;DP=637;ExcessHet=0;FS=1.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.53;ReadPosRankSum=0.819;SOR=0.589	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr9	94320521	94320521	G	A	exonic	NUTM2F	.	nonsynonymous SNV	NUTM2F:NM_017561:exon5:c.C1055T:p.A352V	.	444	1075	3	0	0	3	0.0013934	.	.	.	3352606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00153274722433	0.0004	.	0.0005	0	0.0004	0	0	0.0007	0.0012	0.0006	0.0004204	65	154602	rs200093724	0.0003	0.0003	0.0003	0.0003	0.0029	0.0003	0.0003	0.0017	0.0013	2.994e-05	0.0004	0.0056	5.038e-05	1.881e-05	0.0029	0.0002	0.0007	0.0005	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0001	9.899e-05	0	0	0	0.0060	0	0	0	0.0002	0.0005	0.0004	0.53	0.22400	T	0.598	0.28120	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.11	0.04642	N	2.78	0.11947	T	-0.29	0.26843	N	0.129	0.12341	-0.9823	0.34468	T	0.022	0.09467	T	9	0.005663842	0.00126	T	0.001533	0.02394	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.03919068401637067	0.03865	.	.	0.380668848753	0.22351	T	6.64E-4	0.00291	T	-0.61487	0.00118	T	-0.778263	0.02507	T	0.00561401504082442	0.00061	T	0.449655	0.12671	T	0.019409144	0.00471	0.029585129	0.01313	0.019409144	0.00471	0.029585129	0.01313	-7.584	0.58199	D	.	.	0.080	0.07602	B	.;.	.;.	-0.007846	0.04228	1.039	0.61334315276356288	0.06683	0.00354	0.01821	N	AEFI	0.031894	0.03500	N	-1.60033334962432	0.01263	0.05494734	-1.67554149356455	0.01249	0.05630762	1.82899882011972E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.195	-0.39	0.11830	-0.839000	0.04475	.	.	-0.349000	0.05595	0.000000	0.06391	.	.	0.003000	0.05239	0.3195:0.0:0.3429:0.3376	1.464	0.02257	917	0.20147	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	295.43	36	chr9	94320521	.	G	A	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.415;DP=300;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=56.01;MQRankSum=-1.041;QD=8.21;ReadPosRankSum=2.14;SOR=0.954	GT:AD:DP:GQ:PL	0/0:17,0:17:33:0,33,495	9	0	1	0
chr9	95082711	95082711	T	C	exonic	AOPEP	.	nonsynonymous SNV	AOPEP:NM_032823:exon14:c.T2159C:p.F720S,AOPEP:NM_001193329:exon15:c.T2456C:p.F819S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.039706490216	7.7e-05	.	0.0002	0	0	0	0	0.0002	0	0.0007	0.0001682	26	154602	rs150812918	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	2.987e-05	2.236e-05	3.826e-05	0	0	0.0017	0.0001	0.0001	0.0006	9.856e-05	9.85e-05	7.708e-05	0.0001	0.0002	6.007e-05	4.88e-05	0.0001	9.898e-05	0	0	0	0	0	0	0	0.0002	0	0.0002	0.004	0.68238	D	0.003	0.76473	D	.	.	.	.	.	.	0.000000	0.84330	D	0.051360	0.99014	0.41096	D	.	.	.	2.43	0.19020	T	-3.13	0.66549	D	0.718	0.74644	-1.0742	0.08514	T	0.084	0.32843	T	10	0.2406894	0.41232	T	0.039706	0.58963	D	0.315	0.63694	.	.	0.492749560936	0.48908	0.5234601828303128	0.52270	0.680876912155	0.60020	.	.	.	.	.	.	-0.22582	0.17205	T	-0.201357	0.54517	T	0.264972388744354	0.23531	T	0.787321	0.42620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.66957	A	.;.;.	.;.;.	4.488772	0.70096	25.5	0.99802167677656395	0.88728	0.93289	0.57819	D	AEDGBCI	0.821810	0.74229	D	0.251704143755447	0.53723	3.54	0.192727860382566	0.49446	3.147837	0.999999999931184	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	5.33	4.18	0.48473	5.859000	0.69288	6.196000	0.54830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.1295:0.0:0.0:0.8705	12.003	0.52536	174	0.93268	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1538.43	34	chr9	95082711	.	T	C	1538.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.531;DP=415;ExcessHet=0;FS=3.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.512;SOR=1.143	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	9	0	1	0
chr9	95249215	95249215	G	A	exonic	FANCC	.	nonsynonymous SNV	FANCC:NM_000136:exon2:c.C77T:p.S26F,FANCC:NM_001243743:exon2:c.C77T:p.S26F,FANCC:NM_001243744:exon2:c.C77T:p.S26F	Fanconi anemia, complementation group C, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	YES	138040	Fanconi_anemia_complementation_group_C|Fanconi_anemia_complementation_group_A|Fanconi_anemia|Hereditary_cancer-predisposing_syndrome|not_provided|Malignant_tumor_of_breast|FANCC-related_disorder|not_specified	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	0.0275263375515	0.0050	0.00259585	0.0047	0.0013	0.0031	0	0.0051	0.0068	0.0022	0.0017	0.0045924	710	154602	rs1800361	0.0059	0.0059	0.0060	0.0058	0.0231	0.0058	0.0057	0.0199	0.0187	0.0017	0.0037	0.0090	0	0.0051	0.0231	0.0065	0.0059	0.0019	0.0050	0.0050	0.0050	0.0051	0.0076	0.0047	0.0046	0.0066	0.0064	0.0010	0	0.0076	0.0072	0	0.0060	0.0204	0.0071	0.0100	0.0015	0.004	0.65419	D	0.01	0.92824	D	0.998	0.77913	D	0.948	0.72692	D	0.134198	0.18525	N	0.590317	0.845679	0.35138	D	1.95	0.52479	M	0.35	0.58029	T	-3.47	0.74742	D	0.261	0.35301	-0.4889	0.69047	T	0.207	0.56526	T	10	0.010334253	0.00230	T	0.027526	0.50329	D	0.230	0.53062	.	.	0.869904421163	0.86864	0.23227214108986666	0.23142	0.361563956541	0.37815	0.37709197402	0.21843	T	0.255847	0.62669	T	-0.332421	0.05929	T	-0.244444	0.50364	T	0.0112835168787181	0.00167	T	0.882912	0.66351	D	0.19768904	0.41643	0.20177399	0.44173	0.1658343	0.36879	0.23526555	0.48765	-3.604	0.17915	T	0.6895207082579828	0.76703	0.217	0.51600	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.274750	0.65067	24.8	0.99773894073725566	0.86174	0.88065	0.47833	D	AEFBI	0.278631	0.39287	N	0.561067129567012	0.70757	5.548846	0.526296077947164	0.69767	5.407329	0.819349698334001	0.24496	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.13	4.22	0.49153	3.985000	0.56640	6.910000	0.56896	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0741:0.1439:0.782:0.0	9.548	0.38458	184	0.92813	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020141	0.020202	0.024457	0.035088	0.000000	0.025862	0.003049	0.007576	0.1	1512.14	33	chr9	95249215	.	G	A	1512.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.928;DP=432;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.91;SOR=0.666	GT:AD:DP:GQ:PL	0/1:45,27:72:99:598,0,1050	8	0	2	0
chr9	95446932	95446932	G	A	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon22:c.C4168T:p.R1390W,PTCH1:NM_000264:exon23:c.C4324T:p.R1442W,PTCH1:NM_001083602:exon23:c.C4126T:p.R1376W,PTCH1:NM_001083603:exon23:c.C4321T:p.R1441W,PTCH1:NM_001083604:exon23:c.C3871T:p.R1291W,PTCH1:NM_001083605:exon23:c.C3871T:p.R1291W,PTCH1:NM_001083606:exon23:c.C3871T:p.R1291W,PTCH1:NM_001083607:exon23:c.C3871T:p.R1291W	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	0	1504	18	0	0	18	0.00594845	.	.	.	50105	Hereditary_cancer-predisposing_syndrome|Gorlin_syndrome|Holoprosencephaly_7|Basal_cell_nevus_syndrome_1|Basal_cell_carcinoma,_susceptibility_to,_1|not_provided|not_specified	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MONDO:MONDO:0012562,MedGen:C1835820,OMIM:610828,Orphanet:2162|MONDO:MONDO:0958174,MedGen:CN376810,OMIM:109400|MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	0.0389509006162	0.0004	0.00119808	0.0014	0	0.0006	0	0	0.0007	0.0088	0.0065	0.0012872	199	154602	rs143464326	0.0008	0.0008	0.0006	0.0010	0.0056	0.0008	0.0007	0.0052	0.0050	0.0002	0.0009	0.0010	0	0	0.0037	0.0005	0.0013	0.0056	0.0006	0.0006	0.0006	0.0007	0.0048	0.0005	0.0005	0.0033	0.0028	7.219e-05	0	0.0012	0.0017	0	0	0.0034	0.0006	0.0019	0.0048	0.14	0.25979	T	0.02	0.60972	D	0.001	0.07471	B	0.0	0.01387	B	0.161594	0.17647	N	0.600569	0.986199	0.24640	N	0.345	0.11182	N	-2.69	0.90509	D	-0.53	0.16393	N	0.151	0.20129	-0.5709	0.65978	T	0.418	0.76388	T	10	0.0071581304	0.00163	T	0.038951	0.58523	D	0.230	0.53062	.	.	0.292942362817	0.28906	0.25299644627438844	0.25213	0.120472140638	0.13563	0.215458601713	0.01064	T	0.276521	0.64911	T	-0.386546	0.02831	T	-0.325966	0.41916	T	0.048989183820995	0.05322	T	0.823318	0.48387	T	0.0413131	0.06060	0.022873465	0.00305	0.03755971	0.04837	0.027967943	0.00991	-5.529	0.42139	T	.	.	0.088	0.17785	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.967292	0.39537	21.0	0.99753853378479207	0.84460	0.92946	0.56938	D	AEFDBI	0.645419	0.62132	D	-0.356132552988316	0.27047	1.480907	-0.167277447926688	0.32748	1.86626	0.999981718388619	0.51787	0.719381	0.83141	0	0.71359	0.82159	0	0.723133	0.82415	0	0.491896	0.07777	0	.	.	5.12	3.01	0.33872	1.383000	0.33992	4.631000	0.44116	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.657000	0.32885	0.0974:0.1286:0.6284:0.1455	5.573	0.16488	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006048	0.005051	0.008152	0.002924	0.000000	0.008621	0.006098	0.007576	0.05	1672.43	128	chr9	95446932	.	G	A	1672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.52;SOR=0.633	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	9	0	1	0
chr9	95508310	95508310	T	A	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_000264:exon1:c.A52T:p.S18C,PTCH1:NM_001354918:exon1:c.A52T:p.S18C	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1934223	Gorlin_syndrome	MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.244	0.587185741406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.005e-06	4.105e-06	0	8.211e-06	8.744e-05	1.17e-06	8.5e-07	3.385e-05	2.153e-05	0	0	0	0	0	0	0	0	8.744e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.042	0.50226	D	0.025	0.19245	B	0.012	0.16012	B	.	.	.	.	1	0.81001	D	0	0.06538	N	-2.71	0.90566	D	-0.26	0.11185	N	0.123	0.11483	-0.7241	0.59259	T	0.419	0.76476	T	9	0.107210785	0.19905	T	0.587186	0.96321	D	0.244	0.55061	0.325	0.30711	0.41960043425	0.41580	0.4012131813147003	0.40036	0.534996512572	0.50888	0.909535169601	0.97426	D	0.204289	0.56301	T	-0.28552	0.10090	T	-0.319946	0.42580	T	0.0149029916644772	0.00317	T	0.364364	0.08448	T	0.059469163	0.12091	0.068636276	0.14361	0.059469163	0.12091	0.068636276	0.14360	-4.41	0.29693	T	.	.	0.096	0.15160	B	.	.	2.250493	0.28748	17.90	0.83801257912541061	0.14927	0.53848	0.29471	D	AEFDGBHCI	0.196125	0.32312	N	-0.972549002562503	0.09193	0.4340892	-0.906250371987617	0.11947	0.6117139	0.999999736730378	0.74766	0.524318	0.21684	1	0.56911	0.20461	1	0.166054	0.03999	2	0.621717	0.48901	0	.	.	2.52	-0.749	0.10525	0.166000	0.16400	-0.864000	0.07130	0.257000	0.18371	0.151000	0.23669	0.001000	0.17328	0.573000	0.30723	0.0:0.7203:0.0:0.2797	7.701	0.27791	358	0.85037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	639.43	27	chr9	95508310	.	T	A	639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=292;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.282;SOR=0.638	GT:AD:DP:GQ:PL	0/0:24,0:24:54:0,54,810	9	0	1	0
chr9	96818552	96818552	A	C	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.T1399G:p.S467A,ZNF782:NM_001346995:exon4:c.T1075G:p.S359A,ZNF782:NM_001346991:exon5:c.T1471G:p.S491A,ZNF782:NM_001001662:exon6:c.T1471G:p.S491A	.	373	1136	13	0	0	13	0.00568928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0007	0.033147	0.0180	0.0011	0.0012	0.1114	0.0416	0.0028	0.0231	0.0434	0.0161059	2490	154602	rs75989782	0.0076	0.0076	0.0067	0.0084	0.0955	0.0074	0.0074	0.0929	0.0919	0.0005	0.0004	0.0023	0.0955	0.0397	0.0029	0.0008	0.0106	0.0408	0.0092	0.0092	0.0063	0.0122	0.1030	0.0088	0.0086	0.0957	0.0929	0.0009	0	0.0005	0.0026	0.1030	0.0468	0	0.0013	0.0071	0.0439	0.032	0.44694	D	0.232	0.24987	T	0.868	0.47740	P	0.504	0.47761	P	0.014575	0.28493	N	0.000000	1	0.08975	N	0.81	0.20779	L	4.77	0.01563	T	-2.44	0.53420	N	0.109	0.13911	-1.0832	0.06739	T	0.004	0.01226	T	10	0.0018583536	0.00025	T	.	.	.	0.090	0.26093	.	.	.	.	0.015911493892009146	0.01547	0.228792034998	0.25434	0.652195334435	0.60297	T	0.00863	0.07910	T	-0.607898	0.00130	T	-0.549263	0.17397	T	0.0215779178595742	0.00862	T	0.643236	0.25495	T	0.16147868	0.36160	0.123323925	0.29739	0.16147868	0.36160	0.123323925	0.29738	-6.973	0.53836	T	.	.	0.373	0.58646	A	.;.	.;.	3.650464	0.51811	23.1	0.9938318436978878	0.61979	0.00007	0.00120	N	AEFGBHCI	0.037946	0.05297	N	-0.43745715746271	0.24166	1.303035	-0.511258146740924	0.21847	1.18381	0.00367639831337663	0.10231	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	3.33	2.17	0.26736	0.211000	0.17268	0.111000	0.14782	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.8852:0.0:0.1147:0.0	7.103	0.24529	757	0.50970	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.022727	0.1	2365.14	106	chr9	96818552	.	A	C	2365.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.86;DP=505;ExcessHet=0.2348;FS=4.222;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.824;SOR=0.92	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	8	0	2	0
chr9	97325167	97325167	G	A	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon14:c.G1520A:p.R507Q,CCDC180:NM_001348010:exon15:c.G1511A:p.R504Q	.	365	1153	4	0	0	4	0.0017316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00584392736354	.	.	5.667e-05	0	0.0002	0	0	5.211e-05	0	8.538e-05	2.59e-05	4	154602	rs760401829	2.342e-05	2.326e-05	1.916e-05	2.773e-05	0.0012	1.686e-05	1.487e-05	0.0006	0.0004	0	0	3.866e-05	2.533e-05	0	0.0012	1.806e-05	1.665e-05	4.729e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0.0005	0	0.044	0.41096	D	0.022	0.57587	D	.	.	.	.	.	.	0.041827	0.23907	N	0.406153	1	0.08975	N	.	.	.	1.55	0.29866	T	-2.35	0.51968	N	0.133	0.12913	-1.0515	0.13981	T	0.062	0.25708	T	10	0.048663735	0.04349	T	0.005844	0.15191	T	0.090	0.26093	.	.	0.0954503805726	0.09146	0.1720690067638639	0.17126	.	.	0.225038275123	0.01622	T	.	.	.	-0.412581	0.01911	T	-0.615085	0.11575	T	0.0454328578288116	0.04681	T	0.716728	0.32905	T	0.07327144	0.16360	0.10305942	0.24718	0.07327144	0.16359	0.10305942	0.24718	-3.494	0.16348	T	.	.	0.083	0.09143	B	.	.	0.945943	0.13218	9.719	0.88490477724297989	0.18018	0.05699	0.11620	N	AEFDBI	0.080832	0.16349	N	-1.24107423394794	0.04418	0.1993712	-1.27943207980708	0.04709	0.2227641	0.973695750620764	0.29478	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.39	2.36	0.28258	0.980000	0.29111	2.191000	0.31208	-0.916000	0.02226	0.030000	0.20431	0.434000	0.24870	0.720000	0.34772	0.1027:0.0:0.7645:0.1328	8.976	0.35096	771	0.49057	Domain of unknown function DUF4455	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	361.43	41	chr9	97325167	.	G	A	361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.83;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=1.54;SOR=0.551	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr9	97330636	97330636	G	C	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon18:c.G2143C:p.G715R,CCDC180:NM_001348010:exon19:c.G2134C:p.G712R	.	368	1140	13	1	0	15	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0014	0.0295527	0.0166	0.0014	0.0017	0.1019	0.0462	0.0045	0.0194	0.0299	0.0148122	2290	154602	rs79340881	0.0077	0.0077	0.0072	0.0082	0.0965	0.0076	0.0075	0.0939	0.0929	0.0006	0.0017	0.0087	0.0965	0.0422	0.0050	0.0016	0.0105	0.0278	0.0093	0.0093	0.0067	0.0119	0.0951	0.0089	0.0087	0.0882	0.0854	0.0010	0	0.0015	0.0101	0.0951	0.0487	0	0.0021	0.0071	0.0298	0.083	0.33091	T	0.49	0.11551	T	.	.	.	.	.	.	0.019615	0.01514	N	2.353020	1	0.08975	P	.	.	.	3.11	0.08194	T	-1.2	0.30555	N	0.065	0.03726	-0.9971	0.30728	T	0.000	0.00114	T	9	0.0022274256	0.00032	T	.	.	.	0.049	0.13647	.	.	.	.	0.1003911166582062	0.09970	.	.	0.295209884644	0.09689	T	.	.	.	-0.698241	0.00037	T	-0.688898	0.06453	T	0.00139562611858838	0.00014	T	0.486451	0.14861	T	0.07803534	0.17747	0.066847414	0.13748	0.07803534	0.17746	0.066847414	0.13747	-4.409	0.29679	T	.	.	0.101	0.17742	B	.	.	-0.320489	0.02529	0.302	0.50305580153542118	0.04361	0.03803	0.09135	N	AEFI	0.084834	0.17196	N	-1.33746764887511	0.03256	0.1451611	-1.38334131345414	0.03429	0.1599356	0.107216255934556	0.16549	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.62	-0.698	0.10713	-0.221000	0.09208	-0.389000	0.09488	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2893:0.1661:0.3741:0.1705	0.726	0.00889	768	0.49510	.	.	.	.	.	rs79340881	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008081	0.005102	0.002717	0.000000	0.000000	0.000000	0.021605	0.022727	0.05	409.43	41	chr9	97330636	.	G	C	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=382;ExcessHet=0;FS=2.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=-0.318;SOR=0.586	GT:AD:DP:GQ:PL	0/0:32,0:32:75:0,75,1125	9	0	1	0
chr9	97371691	97371691	G	A	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon34:c.G4585A:p.D1529N	.	425	1081	15	1	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	.	0.0014	0.0297524	0.0166	0.0014	0.0017	0.0997	0.0461	0.0044	0.0190	0.0302	0.0148769	2300	154602	rs2306093	0.0077	0.0077	0.0072	0.0082	0.0964	0.0076	0.0075	0.0938	0.0928	0.0006	0.0017	0.0087	0.0964	0.0421	0.0051	0.0016	0.0104	0.0278	0.0093	0.0093	0.0067	0.0120	0.0950	0.0089	0.0087	0.0880	0.0853	0.0010	0	0.0015	0.0101	0.0950	0.0492	0	0.0022	0.0071	0.0298	0.007	0.59928	D	0.001	0.83351	D	.	.	.	.	.	.	0.000052	0.53742	D	0.078967	0.0808387	0.81001	P	.	.	.	-0.13	0.64818	T	-3.66	0.70067	D	0.123	0.11483	-0.8465	0.52208	T	0.016	0.06569	T	9	0.0020745993	0.00029	T	.	.	.	0.299	0.61955	.	.	.	.	0.2929644638731095	0.29209	.	.	0.421825051308	0.28087	T	.	.	.	-0.390108	0.02686	T	-0.246287	0.50182	T	0.0194891046775722	0.00653	T	0.832317	0.50011	T	0.30348372	0.53216	0.2659079	0.52429	0.30348372	0.53216	0.2659079	0.52428	-3.8	0.20805	T	.	.	0.327	0.54975	B	.	.	4.654599	0.74232	26.1	0.99907692579135143	0.97801	0.91702	0.54082	D	AEFI	0.509505	0.53894	D	0.663436623040766	0.77239	6.637001	0.609957361661287	0.75664	6.350365	0.990983130106929	0.32334	0.693126	0.56070	0	0.610034	0.51514	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.29	5.29	0.74430	5.555000	0.67005	8.590000	0.77683	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	14.818	0.69678	726	0.54788	Domain of unknown function DUF4456	.	.	.	.	rs2306093	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.005051	0.004076	0.002924	0.000000	0.000000	0.015244	0.022727	0.05	757.43	39	chr9	97371691	.	G	A	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=404;ExcessHet=0;FS=2.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=-2.921;SOR=1.017	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1172	9	0	1	0
chr9	97482924	97482924	C	T	exonic	TDRD7	.	nonsynonymous SNV	TDRD7:NM_001302884:exon14:c.C2266T:p.R756C,TDRD7:NM_014290:exon15:c.C2488T:p.R830C	Cataract 36	0	1501	21	0	0	21	0.00694674	.	.	.	319601	Cataract_36|TDRD7-related_disorder	MONDO:MONDO:0013484,MedGen:C3151304,OMIM:613887|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	0.0165181292983	0.0004	0.000798722	0.0009	0.0003	0.0010	0	0.0005	0.0011	0.0022	0.0005	0.0008409	130	154602	rs140697341	0.0006	0.0006	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	0.0007	0.0010	0.0072	0	0.0010	0.0028	0.0004	0.0011	0.0005	0.0009	0.0009	0.0006	0.0011	0.0015	0.0007	0.0007	0.0010	0.0009	0.0002	0	0.0015	0.0075	0.0002	0.0012	0.0034	0.0007	0.0019	0.0006	0.094	0.31383	T	0.069	0.43913	T	1.0	0.90584	D	0.997	0.86255	D	0.000224	0.47286	D	0.252104	0.999998	0.58761	D	2.015	0.55033	M	2.57	0.13552	T	-2.52	0.54702	D	0.418	0.45803	-1.1083	0.03219	T	0.090	0.34628	T	10	0.008106023	0.00184	T	0.016518	0.37815	T	0.215	0.50805	.	.	0.464870050199	0.46114	0.6080530998970395	0.60737	0.626776388847	0.56798	0.314393341541	0.12572	T	0.282167	0.65490	T	-0.171513	0.25005	T	-0.0695836	0.65656	T	0.0589252446298112	0.06997	T	0.840516	0.51562	T	0.11106341	0.26247	0.081332795	0.18476	0.11106341	0.26247	0.081332795	0.18475	-2.811	0.08285	T	.	.	0.114	0.22644	B	.	.	4.788568	0.77693	26.7	0.99647869552333002	0.77068	0.94655	0.61878	D	AEFBI	0.557535	0.56712	D	0.41059120562521	0.62004	4.409478	0.487206890863386	0.67140	5.044496	0.197376636802961	0.18078	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.84	4.88	0.63131	2.993000	0.49114	3.995000	0.41022	-0.171000	0.11205	0.992000	0.37556	0.999000	0.35428	0.986000	0.61781	0.0:0.8617:0.1383:0.0	15.536	0.75742	695	0.58372	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.000000	0.009511	0.008772	0.000000	0.008621	0.012195	0.000000	0.05	2604.43	33	chr9	97482924	.	C	T	2604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=0.156;SOR=0.661	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1198	9	0	1	0
chr9	98126721	98126721	C	T	exonic	CORO2A	.	nonsynonymous SNV	CORO2A:NM_003389:exon11:c.G1274A:p.R425Q,CORO2A:NM_052820:exon11:c.G1274A:p.R425Q	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0165203423516	0.0022	0.000599042	0.0023	0.0007	0.0022	0	0.0005	0.0033	0.0066	0.0008	0.0005175	80	154602	rs146552729	0.0029	0.0029	0.0030	0.0028	0.0085	0.0028	0.0028	0.0066	0.0059	0.0007	0.0022	0.0035	0	0.0003	0.0085	0.0033	0.0029	0.0012	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	0.0007	0	0.0024	0.0032	0	0.0003	0.0034	0.0034	0.0047	0.0015	0.43	0.09543	T	0.555	0.09267	T	0.001	0.07471	B	0.001	0.04355	B	0.413993	0.04608	N	1.359670	1	0.08975	N	0.145	0.08828	N	-0.57	0.71307	T	0.36	0.03700	N	0.116	0.10483	-1.0274	0.21299	T	0.082	0.32411	T	10	0.0040777028	0.00080	T	0.01652	0.37815	T	0.045	0.12272	.	.	0.461583377977	0.45782	0.13431117134133153	0.13355	0.244063042703	0.26914	0.182159513235	0.00115	T	0.019899	0.15767	T	-0.613249	0.00121	T	-0.654186	0.08663	T	0.0019479975708776	0.00020	T	0.40026	0.10182	T	0.0133296875	0.00056	0.020996915	0.00167	0.0133296875	0.00055	0.020996915	0.00167	-3.828	0.21223	T	.	.	0.067	0.03661	B	.;.	.;.	-2.058268	0.00089	0.002	0.60507674706301029	0.06480	0.00152	0.00917	N	AEFBI	0.031559	0.03400	N	-2.19257247478286	0.00080	0.003414471	-2.2567319725513	0.00083	0.003661872	0.999999999958102	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.17	-10.3	0.00281	-3.035000	0.00699	-4.221000	0.02273	-2.817000	0.00181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2532:0.1057:0.0854:0.5557	3.694	0.07888	722	0.55239	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.005051	0.010870	0.005848	0.050000	0.017241	0.009146	0.000000	0.05	743.43	34	chr9	98126721	.	C	T	743.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=394;ExcessHet=0;FS=2.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.032;SOR=1.041	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	9	0	1	0
chr9	98134879	98134879	G	A	exonic	CORO2A	.	nonsynonymous SNV	CORO2A:NM_003389:exon4:c.C395T:p.A132V,CORO2A:NM_052820:exon4:c.C395T:p.A132V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0147620516267	7.7e-05	0.000998403	0.0007	9.688e-05	0	0	0	4.534e-05	0.0011	0.0052	0.0006209	96	154602	rs368954246	0.0003	0.0003	0.0002	0.0005	0.0051	0.0003	0.0003	0.0047	0.0046	5.974e-05	0	0	5.038e-05	0	0	3.058e-05	0.0003	0.0051	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0056	0.05	0.39575	D	0.115	0.36630	T	0.001	0.07471	B	0.005	0.11217	B	0.254886	0.15433	N	0.680005	1	0.08975	N	0.685	0.16464	N	0.21	0.59983	T	-1.76	0.41618	N	0.196	0.21580	-0.9892	0.32803	T	0.124	0.42736	T	10	0.010442525	0.00232	T	0.014762	0.35085	T	0.073	0.21317	.	.	0.656729074501	0.65386	0.2443354433404145	0.24347	0.213114975612	0.23818	0.299555182457	0.10335	T	0.067008	0.33090	T	-0.575584	0.00205	T	-0.598059	0.12975	T	0.0276476229836695	0.01636	T	0.709329	0.31993	T	0.040612254	0.05830	0.08224487	0.18755	0.040612254	0.05830	0.08224487	0.18755	-5.275	0.39695	T	.	.	0.100	0.17060	B	.;.	.;.	1.616328	0.20649	14.85	0.99271898483468213	0.57593	0.25852	0.22822	N	AEFDBI	0.184226	0.31155	N	-0.882238270705902	0.11265	0.5427147	-0.850781983807419	0.13268	0.6873897	0.997013465602832	0.35200	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.37	3.47	0.38831	0.875000	0.27729	4.483000	0.43541	-0.127000	0.13314	0.000000	0.06391	0.927000	0.28453	0.040000	0.14268	0.0749:0.1338:0.7913:0.0	10.438	0.43634	803	0.44167	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1771.43	135	chr9	98134879	.	G	A	1771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.442;SOR=0.663	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1154	9	0	1	0
chr9	98199449	98199449	G	A	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon7:c.C1339T:p.R447W,TBC1D2:NM_001267571:exon13:c.C2719T:p.R907W,TBC1D2:NM_018421:exon13:c.C2686T:p.R896W	.	416	1098	7	1	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0194353318223	0.0004	0.00139776	0.0014	9.73e-05	0.0007	0	0	0.0009	0	0.0059	0.0012419	192	154602	rs201119281	0.0009	0.0009	0.0008	0.0011	0.0066	0.0009	0.0009	0.0061	0.0059	8.961e-05	0.0003	0.0032	0	9.373e-05	0.0035	0.0005	0.0010	0.0066	0.0007	0.0007	0.0006	0.0008	0.0064	0.0006	0.0006	0.0047	0.0040	0.0001	0	0.0002	0.0049	0	0	0	0.0007	0.0005	0.0064	0.0	0.91255	D	0.001	0.83351	D	0.396	0.37720	B	0.062	0.32951	B	0.056489	0.22556	N	0.430211	1	0.08975	N	2.63	0.76995	M	2.88	0.12268	T	-4.25	0.76094	D	0.163	0.22998	-1.0372	0.18171	T	0.032	0.13854	T	10	0.0049004555	0.00105	T	0.019435	0.41802	T	0.118	0.32913	.	.	0.362160248664	0.35833	0.47795207806700285	0.47715	0.910803748371	0.71052	0.255336880684	0.04351	T	0.203966	0.56259	T	-0.48637	0.00680	T	-0.469217	0.25599	T	0.107640780010323	0.13177	T	0.764624	0.39166	T	0.070248626	0.15457	0.03592377	0.02936	0.070248626	0.15456	0.03592377	0.02936	-7.981	0.60941	D	.	.	0.109	0.21877	B	.;.;.;.	.;.;.;.	2.223112	0.28372	17.77	0.99722686877410693	0.82195	0.24760	0.22493	N	AEFDBI	0.350375	0.44384	N	-0.914527525147505	0.10502	0.5021429	-1.0766970332286	0.08160	0.4000209	0.948854702788243	0.27819	0.706298	0.61202	0	0.588066	0.40923	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.51	-3.81	0.04013	-0.093000	0.11077	0.988000	0.23172	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0641:0.0:0.3905:0.5455	12.191	0.53582	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	961.43	37	chr9	98199449	.	G	A	961.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=419;ExcessHet=0;FS=5.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.596;SOR=1.182	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr9	98208741	98208741	C	G	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon3:c.G697C:p.D233H,TBC1D2:NM_001267571:exon9:c.G2077C:p.D693H,TBC1D2:NM_018421:exon9:c.G2077C:p.D693H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0173446412807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.095e-07	6.84e-07	1.397e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.722e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.52492	T	0.039	0.51737	D	0.946	0.53363	P	0.737	0.55577	P	0.003269	0.35183	N	0.318633	0.713662	0.30947	N	1.225	0.30651	L	2.73	0.11839	T	-1.7	0.40468	N	0.342	0.38335	-1.0754	0.08266	T	0.046	0.19879	T	10	0.26594985	0.44095	T	0.017345	0.39013	T	0.082	0.23913	0.403	0.43408	0.490631539035	0.48696	0.3886650009406994	0.38781	0.907913541504	0.70920	0.481947213411	0.36325	T	0.011687	0.10390	T	-0.171781	0.24965	T	-0.484528	0.23967	T	0.901777744293213	0.55458	D	0.864413	0.56163	D	0.057692014	0.11514	0.10638002	0.25591	0.057692014	0.11514	0.10638002	0.25591	-8.487	0.64343	D	.	.	0.100	0.17700	B	.;.;.;.;.	.;.;.;.;.	3.153644	0.42703	21.6	0.99454425989107387	0.65479	0.78353	0.38644	D	AEFDBI	0.195097	0.32215	N	0.451639673761879	0.64295	4.680943	0.464235040342051	0.65636	4.848874	0.999802951353177	0.43304	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.76	3.74	0.42108	4.522000	0.60254	1.431000	0.26447	0.599000	0.40250	1.000000	0.71638	0.778000	0.26755	0.995000	0.73285	0.1307:0.5787:0.2089:0.0816	5.356	0.15363	555	0.71762	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1042.43	34	chr9	98208741	.	C	G	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=426;ExcessHet=0;FS=1.532;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=-1.004;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,1165	9	0	1	0
chr9	98756533	98756533	G	A	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon12:c.C2213T:p.T738M	Nephronophthisis 16, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3719274	Nephronophthisis_16	MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.339	0.168269156822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.138e-05	2.326e-05	2.881e-05	1.387e-05	6.107e-05	1.532e-05	1.335e-05	1.383e-05	1.155e-05	6.107e-05	0	0	0	0	0	2.077e-05	6.681e-05	2.38e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999953	0.52396	D	0.805	0.20218	L	1.61	0.71662	T	-3.43	0.67359	D	0.725	0.72656	0.039	0.83038	D	0.504	0.81300	D	10	0.5921988	0.66443	D	0.168269	0.84641	D	0.339	0.66106	0.217	0.13788	0.855690863419	0.85429	0.38394533692529653	0.38309	0.494821220488	0.48035	0.746311724186	0.73902	T	0.238079	0.60591	T	0.134613	0.67807	D	-0.0444136	0.67402	D	0.977276027202606	0.71767	D	0.956304	0.85620	D	0.40630674	0.61167	0.4023128	0.64717	0.40630674	0.61168	0.4023128	0.64717	-7.16	0.55193	T	.	.	0.637	0.71382	P	.;.	.;.	5.371383	0.90048	31	0.99923708022413793	0.98917	0.98769	0.86615	D	AEFDBI	0.852244	0.76914	D	0.796710501968657	0.85900	8.716328	0.780035863650046	0.88373	9.558	0.999999915689815	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	9.204000	0.94175	11.692000	0.94371	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	16.576	0.84487	594	0.68584	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002024	0.005051	0.001362	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	959.43	36	chr9	98756533	.	G	A	959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=403;ExcessHet=0;FS=1.723;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.079;SOR=0.608	GT:AD:DP:GQ:PL	0/1:50,39:89:99:971,0,1211	9	0	1	0
chr9	98796299	98796299	C	A	exonic	ANKS6	.	nonsynonymous SNV	ANKS6:NM_173551:exon1:c.G193T:p.V65F	Nephronophthisis 16, Autosomal recessive	406	1113	3	0	0	3	0.0013459	.	.	YES	459517	Inborn_genetic_diseases|ANKS6-related_disorder|Nephronophthisis_16	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0014158,MedGen:C3809320,OMIM:615382,Orphanet:655	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.067	0.00494710684115	.	.	0.0051	0	0	0	.	0	0	0.0063	0.0002393	37	154602	rs745881769	0.0030	0.0025	0.0030	0.0029	0.0032	0.0029	0.0029	0.0031	0.0030	0.0002	0.0005	0	0.0002	0.0057	0.0016	0.0032	0.0021	0.0028	0.0020	0.0020	0.0021	0.0019	0.0029	0.0018	0.0017	0.0026	0.0025	0.0006	0	0.0013	0	0.0004	0.0034	0.0034	0.0029	0.0043	0.0023	0.138	0.25873	T	0.105	0.38016	T	0.001	0.07471	B	0.001	0.04355	B	0.999686	0.07957	N	1.000160	1	0.23043	N	1.445	0.36358	L	0.54	0.54911	T	-0.62	0.18248	N	0.329	0.36989	-0.9530	0.40450	T	0.131	0.44208	T	9	0.005586326	0.00124	T	0.004947	0.12473	T	0.067	0.19503	.	.	0.571554507246	0.56821	0.4328128993169649	0.43198	0.171333639152	0.19303	0.899980485439	0.96439	D	0.011195	0.10021	T	-0.503984	0.00543	T	-0.494934	0.22875	T	0.0162056839692269	0.00394	T	0.412159	0.10706	T	0.13579895	0.31504	0.12058416	0.29100	0.13579895	0.31504	0.12058416	0.29099	-6.54	0.50594	T	.	.	0.12	0.24767	B	.	.	0.787368	0.11578	8.169	0.59802407720170625	0.06310	0.13411	0.17841	N	AEFDBHCI	0.065209	0.12706	N	-0.883072384657308	0.11245	0.5416249	-0.984378642685159	0.10136	0.5085917	0.999999999027009	0.74766	0.65757	0.49021	0	0.552344	0.17405	0	0.619478	0.44681	0	0.638787	0.57140	0	.	.	0.715	0.715	0.17341	-0.640000	0.05537	0.456000	0.18569	0.280000	0.18617	0.000000	0.06391	0.989000	0.31174	0.013000	0.09966	.	.	.	791	0.46100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	579.43	23	chr9	98796299	.	C	A	579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.844;DP=317;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-1.959;SOR=0.674	GT:AD:DP:GQ:PL	0/0:36,0:36:93:0,93,1395	9	0	1	0
chr9	99054627	99054627	A	G	exonic	COL15A1	.	nonsynonymous SNV	COL15A1:NM_001855:exon32:c.A3002G:p.K1001R	.	422	1055	45	0	0	45	0.0208817	.	.	.	3210553	COL15A1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0058	0.0081869	0.0106	0.0014	0.0036	0.0002	0.0013	0.0095	0.0118	0.0341	0.0095988	1484	154602	rs35544077	0.0087	0.0087	0.0078	0.0095	0.0297	0.0085	0.0085	0.0288	0.0284	0.0010	0.0041	0.0262	7.559e-05	0.0011	0.0215	0.0075	0.0110	0.0297	0.0060	0.0060	0.0060	0.0060	0.0297	0.0057	0.0055	0.0257	0.0242	0.0013	0	0.0045	0.0254	0.0002	0.0010	0.0408	0.0077	0.0061	0.0297	0.089	0.32141	T	0.131	0.34596	T	0.993	0.65571	D	0.978	0.74104	D	0.000000	0.84330	D	0.051404	0.99859	0.45136	D	0.285	0.10073	N	1.56	0.29602	T	-1.18	0.30140	N	0.522	0.55193	-1.0376	0.18048	T	0.103	0.37894	T	10	0.007863045	0.00179	T	.	.	.	0.082	0.23913	.	.	.	.	0.2692407998404102	0.26837	0.369191664281	0.38448	0.616936087608	0.55296	T	0.142979	0.47885	T	-0.469727	0.00853	T	-0.424509	0.30559	T	0.0275378019383437	0.01620	T	0.884712	0.60854	D	0.1890465	0.40430	0.22869907	0.47919	0.1890465	0.40429	0.22869907	0.47918	-6.969	0.53807	T	.	.	0.182	0.39511	B	.;.	.;.	4.569001	0.72067	25.8	0.99826105706177104	0.90852	0.95609	0.65407	D	AEDBI	0.740387	0.68465	D	0.62286768409591	0.74624	6.164248	0.639144172956136	0.77805	6.750602	0.999999953136641	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.67	5.67	0.87673	5.801000	0.68775	11.057000	0.85382	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	12.586	0.55769	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017154	0.015306	0.014946	0.011696	0.050000	0.000000	0.024540	0.030303	0.05	1072.43	41	chr9	99054627	.	A	G	1072.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.65;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.188;SOR=0.681	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	9	0	1	0
chr9	99218703	99218703	C	T	exonic	ALG2	.	stopgain	ALG2:NM_033087:exon2:c.G482A:p.W161X	Myasthenic syndrome, congenital, 14, with tubular aggregates, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.828	0.82358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	8.458503	0.97591	37	0.99695024936768817	0.80180	0.97647	0.76137	D	AEFBCI	0.261998	0.37983	N	0.920796990238025	0.92741	11.601	0.789631596824565	0.89062	9.823793	0.999999999999992	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.16	5.16	0.70563	7.503000	0.80474	7.668000	0.64620	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.019	0.92882	467	0.78285	Glycosyltransferase subfamily 4-like, N-terminal domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	219.55	38	chr9	99218703	.	C	T	219.55	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.051;DP=914;ExcessHet=0.2348;FS=183.52;InbreedingCoeff=-0.1283;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=2.06;SOR=9.953	GT:AD:DP:GQ:PL	0/0:98,30:128:13:0,13,1824	8	0	2	0
chr9	100586052	100586052	G	T	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G696T:p.E232D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0542952965466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.072	0.43344	T	0.748	0.43202	P	0.391	0.44178	B	0.000339	0.45700	D	0.000000	0.686	0.33281	D	.	.	.	-0.01	0.62762	T	-2.12	0.48184	N	0.643	0.65501	-0.5385	0.67220	T	0.226	0.59058	T	10	0.40179336	0.55619	T	0.054295	0.65801	D	0.209	0.49871	0.314	0.28935	0.176091768786	0.17195	0.12353824256206461	0.12279	0.264892400789	0.29045	0.744064152241	0.73571	T	0.09359	0.39242	T	-0.0186069	0.49052	T	-0.264504	0.48373	T	0.826832354068756	0.48286	D	0.808019	0.45805	T	0.21813367	0.44314	0.1837148	0.41379	0.21813367	0.44314	0.1837148	0.41378	-5.35	0.40435	T	.	.	0.472	0.63258	A	.	.	2.789558	0.36664	20.3	0.99776944694003344	0.86433	0.89682	0.50304	D	AEFBI	0.327484	0.42844	N	-0.13464237117704	0.35889	2.06734	-0.182656827419539	0.32173	1.827842	0.999579504001202	0.40495	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	-0.00478	0.13343	2.437000	0.44487	0.831000	0.21948	-0.802000	0.03151	1.000000	0.71638	0.998000	0.33993	0.484000	0.28656	0.5018:0.0:0.4982:0.0	9.011	0.35302	802	0.44336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	55.43	34	chr9	100586052	.	G	T	55.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.355;DP=429;ExcessHet=0;FS=61.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.93;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1136:.	9	0	1	0
chr9	100586054	100586054	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G698C:p.R233T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0694887468699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.056e-05	0.0023	1.122e-05	9.893e-06	1.21e-05	6.34e-06	5.03e-06	6.75e-06	5.2e-06	0	0	3.86e-05	0	0	0	1.21e-05	1.701e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.014	0.62352	D	0.99	0.63424	D	0.871	0.61869	P	0.000129	0.49741	D	0.000000	0.756557	0.33989	D	.	.	.	0.18	0.60361	T	-2.2	0.49519	N	0.457	0.49420	-0.2468	0.76445	T	0.299	0.67055	T	10	0.46477932	0.59503	T	0.069489	0.70744	D	0.162	0.41843	0.258	0.20002	0.427139414373	0.42328	0.2341529476637619	0.23330	0.308402732697	0.33150	0.728503465652	0.71288	T	0.102534	0.41034	T	0.0341579	0.56277	T	-0.188711	0.55711	T	0.924225926399231	0.58529	D	0.90371	0.66210	D	0.2688615	0.49958	0.31724674	0.57700	0.2688615	0.49958	0.31724674	0.57700	-8.203	0.62445	D	.	.	0.675	0.71929	P	.	.	4.547406	0.71534	25.7	0.98548972411744529	0.42820	0.96446	0.69180	D	AEFBI	0.735174	0.68107	D	0.613299247454443	0.74014	6.061404	0.593538571100228	0.74475	6.143361	0.999999930882717	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	6.577000	0.73916	9.701000	0.81303	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.499000	0.28994	0.0:0.0:1.0:0.0	16.387	0.83343	802	0.44336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.43	34	chr9	100586054	.	G	C	52.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.747;DP=487;ExcessHet=0;FS=61.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=2.96;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:60,0:60:88:.:.:0,88,1640:.	9	0	1	0
chr9	100586055	100586055	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G699C:p.R233S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0829192868762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.307e-05	0.0029	2.591e-05	2.022e-05	0.0002	1.67e-05	1.429e-05	1.949e-05	1.685e-05	6.234e-05	0	0	0	0	0.0002	2.778e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.969	0.56768	D	0.821	0.59116	P	0.000129	0.49741	D	0.000000	0.517869	0.31594	N	.	.	.	0.19	0.60236	T	-1.49	0.36385	N	0.476	0.51137	-0.4964	0.68780	T	0.235	0.60197	T	10	0.47367412	0.60015	T	0.082919	0.74005	D	0.196	0.47777	0.322	0.30226	0.321672782286	0.31767	0.21857767357817443	0.21773	0.277654750267	0.30242	0.7022742033	0.67473	T	0.090632	0.38625	T	0.0182288	0.54142	T	-0.211592	0.53542	T	0.881147146224976	0.53119	D	0.89811	0.64401	D	0.2620145	0.49262	0.23967062	0.49322	0.2620145	0.49262	0.23967062	0.49321	-6.931	0.53529	T	.	.	0.856	0.80106	P	.	.	3.638836	0.51583	23.1	0.9975853377935664	0.84851	0.93365	0.58022	D	AEFBI	0.404018	0.47747	N	0.323277551888876	0.57346	3.901506	0.275658445211492	0.54123	3.578194	0.999929669172451	0.46280	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	3.24	0.36257	2.095000	0.41354	2.423000	0.32696	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.493000	0.28859	0.2751:0.0:0.7249:0.0	7.494	0.26646	802	0.44336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.43	34	chr9	100586055	.	G	C	52.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.937;DP=526;ExcessHet=0;FS=61.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=2.98;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:44:.:.:0,44,1497:.	9	0	1	0
chr9	103005658	103005658	G	A	exonic	CYLC2	.	nonsynonymous SNV	CYLC2:NM_001340:exon5:c.G1027A:p.A343T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00882713347646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.562	0.09052	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	0.999922	0.19486	N	0	0.06538	N	2.42	0.15376	T	-0.13	0.08971	N	0.054	0.02559	-1.0747	0.08410	T	0.028	0.12147	T	7	0.079550326	0.12809	T	0.008827	0.23294	T	0.072	0.21020	0.227	0.15257	0.154104182512	0.14974	2.2433015140729094E-5	0.00002	0.00232610025833	0.00198	0.331680029631	0.15189	T	0.002921	0.02319	T	-0.407042	0.02080	T	-0.822464	0.01403	T	0.189696347943829	0.19826	T	0.285271	0.05070	T	0.06665097	0.14361	0.14013068	0.33412	0.06665097	0.14361	0.14013068	0.33411	-5.368	0.40611	T	.	.	0.073	0.05317	B	.;.;.	.;.;.	0.218202	0.06011	2.450	0.77601626828840753	0.11944	0.17404	0.19822	N	AEFGI	0.068933	0.13622	N	-0.745841452484906	0.14747	0.7372115	-0.900477734969112	0.12083	0.6194827	3.38153684950379E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.398000	0.07320	0.359000	0.17556	-0.254000	0.07082	0.000000	0.06391	0.652000	0.25970	0.029000	0.12982	.	.	.	506	0.75555	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	172.2	36	chr9	103005658	.	G	A	172.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.019;DP=774;ExcessHet=0;FS=137.42;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=-0.455;SOR=7.903	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	8	0	1	1
chr9	104604738	104604738	C	T	exonic	OR13C2	.	nonsynonymous SNV	OR13C2:NM_001004481:exon1:c.G890A:p.S297N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00674905032509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.951	0.68939	D	0.000589	0.43095	U	0.000000	0.997685	0.22554	N	3.055	0.86842	M	1.1	0.39050	T	-2.64	0.56630	D	0.477	0.51226	-0.5118	0.68221	T	0.366	0.72681	T	10	0.49586773	0.61262	T	0.006749	0.17840	T	0.180	0.45073	0.565	0.68633	0.57068417637	0.56733	0.19819092399041724	0.19736	0.759756878633	0.64188	0.208841234446	0.00763	T	0.012079	0.10676	T	-0.11619	0.33748	T	-0.404676	0.32840	T	0.986598253250122	0.77273	D	0.653935	0.26417	T	0.42864174	0.62663	0.6638048	0.80292	0.42864174	0.62664	0.6638048	0.80293	-8.92	0.67181	D	.	.	0.632	0.70174	P	.	.	4.461615	0.69446	25.4	0.9947242445710438	0.66419	0.94856	0.62567	D	AEFI	0.186012	0.31333	N	0.653629951373642	0.76603	6.517269	0.466748716963808	0.65799	4.869722	0.0133567617760039	0.12453	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.53	3.53	0.39533	1.809000	0.38560	3.901000	0.40351	0.425000	0.20843	0.012000	0.18695	0.999000	0.35428	0.946000	0.48989	0.0:0.7683:0.2317:0.0	8.823	0.34198	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1647.43	168	chr9	104604738	.	C	T	1647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.729;DP=1055;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.59;MQRankSum=-3.624;QD=7.59;ReadPosRankSum=1.15;SOR=0.631	GT:AD:DP:GQ:PL	0/0:192,0:192:99:0,120,1800	9	0	1	0
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013609	0.010101	0.010870	0.008772	0.050000	0.008621	0.021472	0.015152	0.1	3990.14	129	chr9	104694845	.	A	G	3990.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.388;DP=1046;ExcessHet=0.2348;FS=1.723;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.78;MQRankSum=1.35;QD=11.05;ReadPosRankSum=0.799;SOR=0.788	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	8	0	2	0
chr9	104766382	104766382	C	T	exonic	NIPSNAP3B	.	nonsynonymous SNV	NIPSNAP3B:NM_018376:exon2:c.C118T:p.R40C	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.0352060505424	0.0017	0.000998403	0.0005	0.0038	0.0004	0	0	0.0001	0	6.058e-05	0.0004334	67	154602	rs145340292	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0039	0.0037	0.0045	0.0003	0	0.0002	3.745e-05	0.0014	8.545e-05	0.0006	3.478e-05	0.0013	0.0013	0.0014	0.0011	0.0043	0.0011	0.0011	0.0037	0.0035	0.0043	0	0.0004	0	0.0002	0	0	0.0001	0	0	0.087	0.32453	T	0.087	0.40747	T	0.546	0.38028	P	0.212	0.37394	B	0.000001	0.84330	D	0.054961	0.99999	0.58761	D	2.3	0.65703	M	-0.03	0.63077	T	-6.16	0.90215	D	0.861	0.85766	-0.8590	0.51334	T	0.197	0.55129	T	10	0.056314677	0.06294	T	0.035206	0.56191	D	0.303	0.62400	.	.	0.706412499221	0.70385	0.9138433406568612	0.91359	0.101051018076	0.11422	0.472112894058	0.34971	T	0.177645	0.52801	T	-0.20275	0.20408	T	-0.0638832	0.66059	T	0.0691838158315712	0.08536	T	0.923708	0.72135	D	0.4046713	0.61054	0.32685363	0.58588	0.4046713	0.61055	0.32685363	0.58587	-11.423	0.81927	D	.	.	0.110	0.21163	B	.	.	2.765942	0.36290	20.2	0.97933429839403019	0.36971	0.37985	0.25885	N	AEFGBCI	0.494503	0.53027	N	-0.336366474963486	0.27776	1.526689	-0.415945536473673	0.24529	1.343703	0.999082188481062	0.38397	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.93	0.889	0.18346	3.461000	0.52800	0.274000	0.16691	-0.187000	0.09635	1.000000	0.71638	0.000000	0.08366	0.804000	0.37906	0.0:0.6707:0.15:0.1793	6.411	0.20893	920	0.19381	NIPSNAP	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1046.43	35	chr9	104766382	.	C	T	1046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.913;DP=407;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=1.67;SOR=0.957	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	9	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	2408.23	143	chr9	106974250	.	T	C	2408.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.227;DP=1108;ExcessHet=2.8389;FS=252.583;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.41;ReadPosRankSum=2.05;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,50:148:99:0|1:106974250_T_C:714,0,2569:106974250	4	0	5	1
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	307.43	41	chr9	106974252	.	G	A	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.026;DP=640;ExcessHet=0;FS=169.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.33;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,99,1485:.	9	0	1	0
chr9	106974261	106974261	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4225A:p.V1409M,ZNF462:NM_021224:exon9:c.G6820A:p.V2274M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0237725409088	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs771703587	4.788e-06	4.788e-06	1.361e-06	8.25e-06	1.159e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.1	0.58353	M	3.41	0.05574	T	-0.99	0.45222	N	0.759	0.75742	-1.1285	0.01855	T	0.089	0.34216	T	10	0.584641	0.66041	D	0.023773	0.46744	T	0.326	0.64826	0.638	0.77470	0.168254554758	0.16434	0.5712084355408036	0.57048	1.80544744655	0.91727	0.912612318993	0.97712	D	0.026782	0.25469	T	0.120554	0.66428	D	-0.0646089	0.66008	T	0.854712462561015	0.50577	D	0.978102	0.92255	D	0.24959412	0.47955	0.23515618	0.48752	0.24959412	0.47955	0.23515618	0.48751	-8.956	0.67948	D	.	.	0.973	0.89938	P	.;.;.	.;.;.	5.570190	0.92213	32	0.99850496988595183	0.93013	0.98758	0.86475	D	AEFBI	0.900038	0.84512	D	0.6937222423315	0.79219	7.032142	0.726332769258317	0.84379	8.275261	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.664000	0.82811	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	305.43	41	chr9	106974261	.	G	A	305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.282;DP=514;ExcessHet=0;FS=162.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.59;SOR=7.053	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,99,1485:.	9	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	752.88	81	chr9	110137052	.	G	C	752.88	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.8;DP=648;ExcessHet=1.5895;FS=269.449;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=0.646;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:110137052_G_C:300,0,1298:110137052	3	0	4	3
chr9	110137054	110137054	G	A	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_001136562:exon2:c.G817A:p.A273T,PALM2AKAP2:NM_001198656:exon2:c.G1084A:p.A362T,PALM2AKAP2:NM_007203:exon8:c.G1510A:p.A504T,PALM2AKAP2:NM_147150:exon8:c.G1510A:p.A504T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0262409829576	.	.	1.678e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs777202417	6.173e-06	6.157e-06	8.191e-06	4.136e-06	0.0002	2.91e-06	2.1e-06	0.0001	7.819e-05	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.084	0.42976	T	0.873	0.70673	P	0.461	0.78396	P	0.000361	0.45440	D	0.192211	0.554502	0.32161	D	1.95	0.52479	M	0.82	0.48142	T	-0.38	0.20145	N	0.196	0.26596	-0.6067	0.64540	T	0.231	0.59732	T	10	0.15551329	0.29309	T	0.026241	0.49161	D	0.058	0.16647	0.201	0.11522	0.606491963429	0.60334	0.1585652680794885	0.19118	0.413830099629	0.42075	0.353128492832	0.18382	T	0.05449	0.29740	T	-0.32145	0.06780	T	-0.414803	0.31673	T	0.136570181284112	0.15976	T	0.914109	0.69400	D	0.07271283	0.16195	0.093768194	0.22163	0.07271283	0.16195	0.093768194	0.22162	-5.913	0.46163	T	.	.	0.123	0.36653	B	.;.;.;.;.;.	.;.;.;.;.;.	3.350669	0.46210	22.3	0.99576051814353395	0.72682	0.77969	0.38401	D	AEFBCIJ	0.274752	0.38987	N	0.18937847889013	0.50690	3.256583	0.211920241110118	0.50507	3.242088	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	693.98	81	chr9	110137054	.	G	A	693.98	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-2.298;DP=682;ExcessHet=1.5895;FS=212.426;InbreedingCoeff=-0.3085;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.44;ReadPosRankSum=1.5;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,15:53:99:0|1:110137052_G_C:300,0,1298:110137052	4	0	4	2
chr9	110385901	110385901	C	G	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon43:c.G10234C:p.E3412Q	.	451	1049	21	1	0	23	0.0108439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	.	0.0039	0.00479233	0.0054	0.0012	0.0025	0	0.0053	0.0061	0.0034	0.0105	0.0051746	800	154602	rs145193955	0.0061	0.0061	0.0060	0.0063	0.0111	0.0060	0.0060	0.0105	0.0102	0.0008	0.0025	0.0015	0	0.0050	0.0059	0.0065	0.0058	0.0111	0.0043	0.0043	0.0046	0.0040	0.0110	0.0040	0.0039	0.0086	0.0078	0.0008	0	0.0031	0	0	0.0036	0.0068	0.0069	0.0043	0.0110	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000001	0.62929	D	0.095495	0.810376	0.34633	D	1.795	0.47270	L	.	.	.	.	.	.	0.436	0.47487	-1.1058	0.03457	T	0.072	0.29291	T	10	0.009075999	0.00205	T	.	.	.	0.136	0.36778	.	.	0.043077524339	0.03247	0.4898405157219356	0.48904	0.409573402614	0.41769	0.550909638405	0.45985	T	0.015123	0.12745	T	-0.395989	0.02459	T	-0.332192	0.41225	T	0.00490220077480139	0.00053	T	0.70483	0.31518	T	0.16026472	0.35956	0.11986449	0.28929	0.16026472	0.35956	0.11986449	0.28929	-3.781	0.20521	T	.	.	0.090	0.12702	B	.;.	.;.	3.147362	0.42591	21.6	0.9974708888691064	0.83927	0.94525	0.61448	D	AEFBI	0.642113	0.61920	D	0.353146153180253	0.58905	4.065826	0.352233675522645	0.58641	4.035978	0.978342231168476	0.29912	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.07	4.18	0.48473	3.062000	0.49664	3.276000	0.37195	0.593000	0.32247	1.000000	0.71638	0.998000	0.33993	0.995000	0.73285	0.0:0.9267:0.0:0.0733	13.976	0.63788	975	0.05339	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.017241	0.021341	0.007576	0.05	807.43	39	chr9	110385901	.	C	G	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=410;ExcessHet=0;FS=6.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=0.976;SOR=1.597	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	9	0	1	0
chr9	110408009	110408009	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G7591A:p.E2531K	.	430	1088	4	0	0	4	0.00183486	.	.	.	2826305	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	.	0.0054	0.00299521	0.0060	0.0014	0.0036	0.0002	0.0166	0.0081	0.0102	0.0005	0.0058861	910	154602	rs143931457	0.0072	0.0072	0.0075	0.0069	0.0080	0.0071	0.0070	0.0079	0.0078	0.0010	0.0039	0.0018	5.039e-05	0.0158	0.0005	0.0080	0.0064	0.0008	0.0058	0.0058	0.0057	0.0060	0.0077	0.0055	0.0054	0.0072	0.0069	0.0014	0.0088	0.0063	0.0017	0.0002	0.0167	0	0.0077	0.0066	0.0004	.	.	.	0.007	0.69154	D	0.021	0.18474	B	0.005	0.11217	B	0.014048	0.28650	N	0.429928	0.999987	0.18198	N	0.46	0.12951	N	.	.	.	.	.	.	0.155	0.16028	-1.0193	0.23943	T	0.081	0.32060	T	10	0.007870764	0.00179	T	.	.	.	0.095	0.27398	.	.	0.043077524339	0.03247	0.42061192803488745	0.41977	0.10503442452	0.11875	0.247459113598	0.03504	T	0.018117	0.14664	T	-0.553316	0.00279	T	-0.558182	0.16548	T	0.000669186016256328	0.00006	T	0.864413	0.56163	D	0.07257252	0.16154	0.070565425	0.15008	0.07257252	0.16153	0.070565425	0.15008	-5.883	0.45290	T	.	.	0.074	0.05274	B	.;.	.;.	1.097008	0.14809	11.35	0.94100966962080834	0.24264	0.08721	0.14609	N	AEFBI	0.117369	0.22995	N	-1.03348902376888	0.07916	0.3693508	-1.03227015608243	0.09079	0.4497885	9.4934169310401E-5	0.04910	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.07	-0.482	0.11476	0.302000	0.18947	-0.297000	0.10145	0.597000	0.34315	0.022000	0.19841	0.000000	0.08366	0.602000	0.31438	0.0:0.4592:0.2109:0.3299	6.681	0.22306	968	0.07033	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.010101	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.05	1815.43	133	chr9	110408009	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.37;DP=599;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.664;SOR=0.614	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr9	110432032	110432032	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon32:c.G5236A:p.V1746I	.	425	1096	1	0	0	1	0.000455996	.	.	.	3608851	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.500	0.0153137855954	.	.	0.0002	0	0	0	0	4.528e-05	0	0.0010	0.0001294	20	154602	rs562464972	0.0001	0.0001	7.704e-05	0.0001	0.0013	9.45e-05	8.927e-05	0.0011	0.0010	6.143e-05	7.442e-05	0	0	0	0.0004	3.709e-05	5.03e-05	0.0013	1.972e-05	1.97e-05	0	4.036e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	0.059	0.46862	T	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999451	0.47118	D	-0.43	0.02865	N	.	.	.	.	.	.	0.59	0.69562	0.398	0.89063	D	0.720	0.90393	D	10	0.20588651	0.36831	T	0.015314	0.35967	T	0.500	0.78350	0.477	0.55502	0.043077524339	0.03247	0.1596314628807412	0.15884	0.442571893337	0.44215	0.575675725937	0.49477	T	0.00164	0.23835	T	-0.371247	0.03531	T	-0.356488	0.38458	T	0.372699499130249	0.27901	T	0.813219	0.46599	T	0.12367113	0.29035	0.13724382	0.32810	0.12367113	0.29035	0.13724382	0.32809	-3.258	0.13201	T	.	.	0.121	0.25166	B	.;.	.;.	3.621012	0.51243	23.1	0.99915738134579313	0.98379	0.95658	0.65609	D	AEFBCI	0.890907	0.82637	D	0.345992505570444	0.58527	4.026	0.416286579095403	0.62580	4.475725	0.999999999867595	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	7.375000	0.78897	2.748000	0.34514	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.516000	0.29383	0.0:1.0:0.0:0.0	19.055	0.93040	969	0.06854	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1288.43	39	chr9	110432032	.	C	T	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.53;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.363;SOR=0.626	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	9	0	1	0
chr9	110446963	110446963	C	T	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon25:c.G4198A:p.D1400N	.	.	.	.	.	.	.	.	.	.	.	4073446	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.613	0.0818693585799	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs747122560	3.514e-05	3.557e-05	2.546e-05	4.509e-05	0.0002	2.69e-05	2.423e-05	2.799e-05	2.464e-05	0	8.552e-05	0	0	0	0.0002	3.713e-05	8.639e-05	0	2.628e-05	2.627e-05	1.285e-05	4.035e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.126	0.27194	T	0.016	0.60972	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999818	0.49394	D	0.93	0.23535	L	-3.72	0.95422	D	-1.93	0.44852	N	0.568	0.65587	0.790	0.94283	D	0.888	0.96291	D	10	0.53292656	0.63286	D	0.081869	0.73777	D	0.613	0.84879	.	.	0.456634521626	0.45285	0.6371302673483843	0.63647	0.480749730577	0.47089	0.732280552387	0.71839	T	0.036676	0.55969	T	-0.0842119	0.39028	T	-0.110432	0.62577	T	0.436834871768951	0.30313	T	0.963904	0.86656	D	0.2646127	0.49528	0.28487664	0.54488	0.2646127	0.49528	0.28487664	0.54487	-8.4	0.63765	D	.	.	0.313	0.54019	B	.;.	.;.	5.041921	0.83928	28.2	0.99915222581646912	0.98379	0.98398	0.82369	D	AEFBI	0.924842	0.90348	D	0.705473893918032	0.79992	7.196376	0.743168119135371	0.85645	8.642991	0.999999988892311	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	5.85	0.93663	7.567000	0.81378	7.668000	0.64620	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.173	0.98166	975	0.05339	EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	36	chr9	110446963	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.219;DP=417;ExcessHet=0;FS=5.335;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.81;ReadPosRankSum=-0.511;SOR=1.212	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	9	0	1	0
chr9	110800836	110800836	A	G	exonic	MUSK	.	nonsynonymous SNV	MUSK:NM_001369398:exon9:c.A1198G:p.I400V,MUSK:NM_001166281:exon12:c.A2170G:p.I724V,MUSK:NM_001166280:exon13:c.A2200G:p.I734V,MUSK:NM_005592:exon14:c.A2458G:p.I820V	Fetal akinesia deformation sequence, Autosomal recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0168074123812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.844	0.02782	T	1.0	0.01155	T	0.005	0.12996	B	0.027	0.21085	B	0.000005	0.62929	D	0.106321	0.997725	0.44134	D	-0.205	0.04094	N	-1.59	0.82076	D	-0.27	0.11366	N	0.084	0.14905	-0.7256	0.59184	T	0.255	0.62530	T	10	0.15336004	0.28950	T	0.016807	0.38239	T	0.242	0.54781	0.6	0.73105	0.621830897814	0.61876	0.3574911797212814	0.35663	0.137857802033	0.15542	0.41606593132	0.27295	T	0.206198	0.56548	T	-0.0925583	0.37654	T	-0.37073	0.36803	T	0.811839282512665	0.47178	D	0.837116	0.50934	T	0.06685322	0.14423	0.07862274	0.17625	0.06685322	0.14423	0.07862274	0.17625	-1.747	0.02356	T	0.2148973573422226	0.28882	0.273	0.57938	B	.;.;.;.	.;.;.;.	1.955412	0.24836	16.54	0.92816363878119112	0.22343	0.84264	0.43346	D	AEFGBI	0.303897	0.41174	N	-0.309485064409963	0.28787	1.590741	-0.0472363839971343	0.37611	2.204454	0.999933806994181	0.46732	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	3.490000	0.53007	5.429000	0.48587	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.9262:0.0:0.0738:0.0	11.234	0.48161	935	0.14827	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2215.43	38	chr9	110800836	.	A	G	2215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.803;DP=527;ExcessHet=0;FS=3.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.624;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	9	0	1	0
chr9	111371647	111371647	G	C	exonic	ECPAS	.	nonsynonymous SNV	ECPAS:NM_001363756:exon42:c.C4711G:p.L1571V,ECPAS:NM_001364931:exon42:c.C4729G:p.L1577V,ECPAS:NM_001364929:exon43:c.C4711G:p.L1571V,ECPAS:NM_001364930:exon43:c.C4711G:p.L1571V	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.479	0.107806170442	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1366412282	6.842e-07	6.84e-07	1.361e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.999927	0.51308	D	.	.	.	-0.76	0.73417	T	-1.77	0.41809	N	0.722	0.81559	-0.0605	0.80982	T	0.482	0.80215	T	10	0.530752	0.63169	D	0.107806	0.78405	D	0.479	0.77012	0.436	0.48828	0.686812096985	0.68413	0.552441269774207	0.55170	0.591997226214	0.54614	0.651847243309	0.60248	T	0.149665	0.48877	T	0.180408	0.72081	D	0.0213677	0.71719	D	0.852983350034797	0.50425	D	0.958804	0.88468	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.46470	B	.;.;.	.;.;.	4.252253	0.64550	24.7	0.99842274304351664	0.92229	0.98511	0.83558	D	AEFBI	0.637853	0.61648	D	0.575936920171336	0.71675	5.687017	0.548953045728676	0.71323	5.637563	0.999915673140502	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	3.47	0.38831	5.515000	0.66765	5.031000	0.46827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1452:0.0:0.8548:0.0	13.366	0.60130	865	0.32612	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1056.43	42	chr9	111371647	.	G	C	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.05;DP=459;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.647;SOR=0.915	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr9	112453977	112453977	A	G	exonic	C9orf147	.	nonsynonymous SNV	C9orf147:NM_001350649:exon5:c.T479C:p.L160P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.00219649	0.0012	0.0003	0.0028	0	0	0.0017	0	0	0.0013519	209	154602	rs143216878	0.0024	0.0024	0.0023	0.0024	0.0034	0.0023	0.0023	0.0029	0.0027	0.0006	0.0034	0	0	0	0.0004	0.0028	0.0017	1.208e-05	0.0018	0.0018	0.0020	0.0016	0.0048	0.0016	0.0016	0.0039	0.0036	0.0007	0	0.0048	0.0003	0	9.43e-05	0.0034	0.0023	0.0052	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	670.43	34	chr9	112453977	.	A	G	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=308;ExcessHet=0;FS=3.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=-0.976;SOR=1.547	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	9	0	1	0
chr9	112838537	112838537	C	T	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.C854T:p.S285F	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	.	0.0006	0.00339457	0.0013	0	0.0004	0	0	0.0009	0	0.0055	0.0011643	180	154602	rs192545589	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0046	0.0004	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0051	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0003	0	0.0012	0	0	0	0.0102	0.0007	0.0019	0.0050	0.028	0.46129	D	0.062	0.45318	T	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.73	0.26445	T	-2.26	0.50502	N	0.654	0.66443	-0.9849	0.33856	T	0.112	0.40052	T	10	0.009195298	0.00208	T	.	.	.	0.281	0.59861	.	.	0.176862962021	0.17281	0.6963577927378339	0.69576	1.03830873914	0.75688	0.68744379282	0.65339	T	0.208901	0.56896	T	-0.12288	0.32655	T	0.0523577	0.73739	D	0.127531483769417	0.15152	T	0.950605	0.81072	D	0.32067564	0.54697	0.23084652	0.48198	0.32067564	0.54697	0.23084652	0.48197	-8.073	0.61567	D	.	.	0.247	0.48124	B	.	.	4.572592	0.72161	25.8	0.99805050807870455	0.88906	0.98676	0.85452	D	AEFBI	0.894895	0.83436	D	0.618525323020078	0.74345	6.117228	0.573728917633802	0.73064	5.909455	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	7.568000	0.81546	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.183	0.93617	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.002924	0.050000	0.008621	0.018293	0.000000	0.05	1265.43	105	chr9	112838537	.	C	T	1265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=427;ExcessHet=0;FS=3.748;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.774;SOR=1.096	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	9	0	1	0
chr9	112890419	112890419	G	A	exonic	SLC46A2	.	nonsynonymous SNV	SLC46A2:NM_033051:exon1:c.C263T:p.S88F	.	414	1107	1	0	0	1	0.000451467	.	.	.	3329414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.0121361275625	.	.	8.259e-05	0	8.645e-05	0	0	3.008e-05	0	0.0004	6.47e-05	10	154602	rs761575386	5.13e-05	5.13e-05	3.131e-05	7.15e-05	0.0007	4.192e-05	3.823e-05	0.0004	0.0004	0	4.472e-05	0	0	0	0.0007	1.799e-05	6.623e-05	0.0005	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0.0005	0.0004	0.026	0.46910	D	0.01	0.65728	D	0.602	0.39365	P	0.378	0.43788	B	0.000389	0.44960	D	0.241565	0.961604	0.26100	N	0.695	0.17993	N	0.42	0.56937	T	-0.88	0.23808	N	0.286	0.32370	-1.0249	0.22116	T	0.089	0.34160	T	10	0.17713219	0.32733	T	0.012136	0.30444	T	0.080	0.23350	0.571	0.69431	0.586633458331	0.58337	0.4547638456252715	0.45394	0.576931619124	0.53642	0.408066421747	0.26189	T	0.127957	0.45531	T	-0.329181	0.06174	T	-0.382662	0.35411	T	0.172834157887043	0.18771	T	0.836316	0.50742	T	0.25977537	0.49031	0.3491561	0.60545	0.25977537	0.49031	0.3491561	0.60545	-6.254	0.48357	T	.	.	0.231	0.46354	B	.	.	3.977658	0.58453	24.0	0.99732150488888194	0.82833	0.76003	0.37244	D	AEFDBCI	0.363175	0.45216	N	-0.0909870537100499	0.37788	2.203488	0.0514267679150834	0.42141	2.543778	0.999998469194794	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.44	4.54	0.55220	2.266000	0.42977	8.542000	0.77496	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.916000	0.45140	0.0:0.1329:0.7292:0.1379	11.818	0.51495	657	0.62240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2105.43	33	chr9	112890419	.	G	A	2105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.541;DP=471;ExcessHet=0;FS=3.795;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.36;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	9	0	1	0
chr9	113193508	113193508	T	C	exonic	FKBP15	.	nonsynonymous SNV	FKBP15:NM_015258:exon11:c.A1049G:p.Q350R	.	431	1090	1	0	0	1	0.000458505	.	.	.	3669723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.0165999868944	.	.	6.533e-05	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs755243191	1.937e-05	1.915e-05	1.373e-05	2.51e-05	0.0012	1.343e-05	1.156e-05	0.0006	0.0004	0	4.72e-05	0	0	0	0.0012	2.719e-06	0	0.0002	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	6.537e-05	0	0	0	0	0	0	0.0004	0.004	0.65419	D	0.021	0.76473	D	0.856	0.47190	P	0.33	0.42079	B	.	.	.	.	0.891983	0.35973	D	2.615	0.76484	M	1.63	0.36512	T	-2.54	0.56144	D	0.409	0.44952	-0.8362	0.52898	T	0.118	0.41385	T	9	0.16604814	0.31019	T	0.017	0.37934	T	0.061	0.17616	0.189	0.09907	0.358134431457	0.35428	.	.	0.32204808663	0.34400	0.517786562443	0.41314	T	0.060773	0.44593	T	-0.269696	0.11790	T	-0.37013	0.36874	T	0.588923215866089	0.35964	D	0.854315	0.54093	D	0.1809378	0.39239	0.31432512	0.57425	0.1809378	0.39239	0.31432512	0.57424	-8.408	0.63818	D	.	.	0.172	0.37764	B	.;.;.	.;.;.	3.577229	0.50415	22.9	0.99563805519209203	0.71953	0.97752	0.76876	D	AEFBI	0.513944	0.54152	D	0.331611768183141	0.57778	3.94653	0.344079920901514	0.58151	3.984118	0.99999742189458	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	4.45	0.53365	5.362000	0.65850	6.186000	0.54701	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:0.1496:0.8504	11.529	0.49849	575	0.70088	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	533.43	34	chr9	113193508	.	T	C	533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.349;DP=365;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-1.874;SOR=0.368	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	9	0	1	0
chr9	113297860	113297860	A	T	exonic	RNF183	.	nonsynonymous SNV	RNF183:NM_001371234:exon2:c.T325A:p.F109I,RNF183:NM_145051:exon2:c.T325A:p.F109I,RNF183:NM_001371235:exon4:c.T325A:p.F109I,RNF183:NM_001371236:exon4:c.T325A:p.F109I,RNF183:NM_001371237:exon5:c.T325A:p.F109I	.	.	.	.	.	.	.	.	.	.	.	4062325	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00583538511481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.863e-07	6.84e-07	0	1.381e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.03	0.54159	D	0.01	0.15535	B	0.01	0.14941	B	0.054785	0.22695	N	0.450953	0.984755	0.40188	D	0.975	0.24501	L	2.34	0.16351	T	-1.23	0.31170	N	0.333	0.41557	-1.0613	0.11434	T	0.029	0.12497	T	10	0.14353445	0.27249	T	0.005835	0.15161	T	0.087	0.25287	0.397	0.42426	0.272205846399	0.26826	0.8197733766959339	0.81934	0.962697856736	0.73061	0.53913205862	0.44323	T	0.09415	0.39357	T	-0.130719	0.31380	T	-0.425545	0.30441	T	0.750450968742371	0.43310	D	0.511749	0.16382	T	0.16037004	0.35973	0.15977201	0.37245	0.16037004	0.35973	0.15977201	0.37244	-4.044	0.24460	T	.	.	0.177	0.39168	B	.;.;.;.	.;.;.;.	3.622481	0.51274	23.1	0.98128302945508583	0.38498	0.79352	0.39305	D	AEFDBI	0.322640	0.42507	N	-0.216442194104903	0.32459	1.830777	-0.0224698456024768	0.38703	2.283981	0.999981910770165	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	2.779000	0.47420	8.900000	0.78367	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	1.0:0.0:0.0:0.0	12.683	0.56296	819	0.41190	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	363.43	46	chr9	113297860	.	A	T	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=455;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=-0.435;SOR=0.988	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr9	113389515	113389515	C	T	exonic	ALAD	.	nonsynonymous SNV	ALAD:NM_001317745:exon9:c.G700A:p.V234I,ALAD:NM_000031:exon10:c.G724A:p.V242I,ALAD:NM_001003945:exon10:c.G811A:p.V271I	Porphyria, acute hepatic, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	310706	Porphobilinogen_synthase_deficiency|not_provided	MONDO:MONDO:0013000,MedGen:C0268328,OMIM:612740,Orphanet:100924,Orphanet:95157|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0136717011598	0.0002	.	0.0002	0	0.0002	0	0.0006	0.0003	0	0.0001	0.0001811	28	154602	rs200180791	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0	0.0002	0.0005	0	0.0012	0.0009	0.0001	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	8.717e-05	0.0001	8.875e-05	0	0	0.0001	0.0003	0	0.0005	0	0.0002	0.0005	0.0002	0.888	0.02495	T	0.931	0.02768	T	0.0	0.02946	B	0.002	0.06944	B	0.000000	0.84330	N	0.052312	0.999996	0.58761	D	0.825	0.20901	L	-2.17	0.86624	D	-0.44	0.14588	N	0.285	0.32259	-0.6680	0.61919	T	0.343	0.70835	T	10	0.052046597	0.05179	T	0.013672	0.33248	T	0.237	0.54074	.	.	0.72559337781	0.72316	0.5859050350014252	0.58520	0.309255796185	0.33236	0.293630957603	0.09454	T	0.274068	0.64655	T	-0.226531	0.17110	T	-0.278459	0.46962	T	0.0222578011453152	0.00937	T	0.910209	0.68156	D	0.24900769	0.47892	0.12935562	0.31105	0.24900769	0.47892	0.12935562	0.31105	-4.927	0.36037	T	0.1586560411585936	0.19238	0.106	0.19720	B	.	.	2.754453	0.36112	20.2	0.92322314182602738	0.21718	0.83331	0.42457	D	AEFDBI	0.241093	0.36277	N	-0.378152898416963	0.26248	1.43114	-0.154995982465555	0.33217	1.89778	0.999998931945203	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.41	4.5	0.54382	4.731000	0.61716	4.074000	0.41688	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8101:0.0:0.1899	9.031	0.35422	831	0.39019	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1810.43	120	chr9	113389515	.	C	T	1810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.25;DP=435;ExcessHet=0;FS=5.738;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.805;SOR=1.196	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1148	9	0	1	0
chr9	114323218	114323218	G	A	exonic	ORM1	.	nonsynonymous SNV	ORM1:NM_000607:exon1:c.G85A:p.V29M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00303013056261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868794879	6.204e-06	8.893e-06	5.48e-06	6.936e-06	0.0002	2.92e-06	2.11e-06	2.64e-06	1.7e-06	3.002e-05	0	0	0	0	0.0002	6.338e-06	0	0	6.814e-06	1.319e-05	1.321e-05	0	1.515e-05	0	0	.	.	0	0	0	0	0	0	0	1.515e-05	0	0	0.116	0.28395	T	0.107	0.37730	T	.	.	.	.	.	.	0.000162	0.00496	N	4.216950	1	0.08975	N	.	.	.	3.05	0.08721	T	-0.37	0.13226	N	0.154	0.15888	-1.0229	0.22769	T	0.077	0.30798	T	10	0.08373502	0.13961	T	0.00303	0.06517	T	0.024	0.04979	0.265	0.21103	0.0482279557977	0.04254	0.4548616612830644	0.45404	1.76827272956	0.91258	0.261044919491	0.05016	T	.	.	.	-0.334351	0.05789	T	-0.718049	0.04891	T	0.0664085424174388	0.08138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.30076	B	.	.	0.097240	0.04995	1.553	0.65740218776160819	0.07858	0.00697	0.02968	N	AEFDGBI	0.449416	0.50424	N	-1.38189862050674	0.02808	0.1245167	-1.50954157385283	0.02270	0.1041514	0.999993491371753	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.02	-7.53	0.01194	-0.751000	0.04908	0.438000	0.18395	-0.137000	0.12594	0.000000	0.06391	0.004000	0.18990	0.026000	0.12556	0.6625:0.0:0.2293:0.1082	8.422	0.31866	595	0.68488	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	914.43	33	chr9	114323218	.	G	A	914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.674;DP=676;ExcessHet=0;FS=2.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.42;MQRankSum=-0.238;QD=2.66;ReadPosRankSum=0.273;SOR=0.886	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1333	9	0	1	0
chr9	114329923	114329923	C	T	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.C19T:p.L7F	.	456	1055	10	1	0	12	0.00565504	.	.	.	2826335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0045	0.00419329	0.0106	0.0093	0.0128	0	0.0047	0.0137	0.0055	0.0028	0.0010373	27	26028	rs143336597	0.0030	0.0031	0.0031	0.0030	0.0100	0.0030	0.0029	0.0075	0.0067	0.0059	0.0049	0.0312	0	0.0019	0.0100	0.0024	0.0059	0.0014	0.0042	0.0043	0.0041	0.0043	0.0046	0.0038	0.0037	0.0039	0.0037	0.0046	0	0.0046	0.0292	0.0003	0.0027	0.0207	0.0030	0.0079	0.0011	0.103	0.30097	T	0.011	0.64786	D	1.0	0.90584	D	0.994	0.82059	D	0.007475	0.31378	N	0.203527	1	0.08975	N	2.14	0.59869	M	2.54	0.13916	T	-2.82	0.59545	D	0.33	0.37093	-0.9558	0.39952	T	0.166	0.50372	T	10	0.0045836866	0.00095	T	.	.	.	0.054	0.15330	.	.	0.31501682445	0.31101	0.3073696957865565	0.30649	1.63474285478	0.89300	.	.	.	0.090214	0.38538	T	-0.506014	0.00529	T	-0.498539	0.22499	T	0.0358126079362016	0.02948	T	0.660634	0.26999	T	0.100625806	0.23761	0.111952335	0.27009	0.100625806	0.23761	0.111952335	0.27008	-5.25	0.39445	T	.	.	0.13	0.27910	B	.	.	2.835497	0.37390	20.5	0.9739253131024681	0.33731	0.02043	0.06114	N	AEFDGBI	0.214987	0.34039	N	-0.153741131430986	0.35076	2.010137	-0.40007336570999	0.24996	1.371993	0.999993289566918	0.74766	0.497415	0.19182	0	0.550933	0.16991	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	2.77	1.87	0.24559	0.953000	0.28759	3.431000	0.38316	0.291000	0.18778	0.133000	0.23395	0.998000	0.33993	0.492000	0.28837	0.0:0.8448:0.0:0.1552	5.554	0.16392	620	0.66037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.017610	0.010417	0.029086	0.008929	0.100000	0.008621	0.004000	0.004348	0.1	841.14	20	chr9	114329923	.	C	T	841.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.36;DP=231;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=36.69;MQRankSum=0.565;QD=19.56;ReadPosRankSum=1.06;SOR=0.36	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,945	8	0	2	0
chr9	114331576	114331576	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon4:c.G338A:p.R113Q	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0059	0.00579073	0.0015	0.0162	0.0005	0	0	3.001e-05	0	6.066e-05	0.001423	220	154602	rs142633392	0.0005	0.0005	0.0006	0.0005	0.0186	0.0005	0.0005	0.0173	0.0169	0.0186	0.0005	0	0	1.872e-05	0.0005	3.598e-05	0.0013	9.276e-05	0.0049	0.0050	0.0051	0.0047	0.0168	0.0046	0.0045	0.0158	0.0153	0.0168	0	0.0022	0	0	0	0	0.0001	0.0038	0.0002	0.417	0.09927	T	0.35	0.17478	T	0.001	0.07471	B	0.001	0.04355	B	0.084964	0.02394	N	1.906400	1	0.08975	N	0.255	0.09829	N	3.14	0.07920	T	-0.56	0.17003	N	0.057	0.02861	-1.0159	0.25045	T	0.009	0.03271	T	10	0.003284514	0.00056	T	.	.	.	0.026	0.05648	.	.	0.0986583533028	0.09354	0.1790685206188053	0.17825	0.0106233313523	0.00978	.	.	.	0.003549	0.02960	T	-0.747746	0.00018	T	-0.832582	0.01217	T	0.00399802169276008	0.00042	T	0.361564	0.08348	T	0.046601556	0.07827	0.06449665	0.12937	0.046601556	0.07827	0.06449665	0.12936	-4.109	0.25423	T	.	.	0.083	0.09336	B	.	.	-2.452587	0.00035	0.001	0.52517849141254735	0.04763	0.00752	0.03125	N	AEFDBCI	0.182820	0.31014	N	-2.26146102077943	0.00056	0.00238746	-2.40678595403585	0.00038	0.00166709	0.999999999999871	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	2.95	-5.9	0.02087	-4.326000	0.00288	-12.862000	0.00495	-2.044000	0.00422	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.121:0.0928:0.6382:0.148	6.802	0.22938	624	0.65661	Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1894.43	43	chr9	114331576	.	G	A	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.73;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.213;SOR=0.736	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	9	0	1	0
chr9	114406373	114406373	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165C:p.A389P,WHRN:NM_001083885:exon9:c.G1069C:p.A357P,WHRN:NM_001173425:exon9:c.G2218C:p.A740P,WHRN:NM_015404:exon9:c.G2218C:p.A740P	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00416941012184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.11120	T	0.818	0.11968	T	0.019	0.17989	B	0.034	0.22546	B	0.000095	0.51296	D	0.131649	0.999967	0.52935	D	1.495	0.37439	L	4.14	0.06291	T	0.56	0.02680	N	0.058	0.06854	-0.9371	0.43072	T	0.013	0.04890	T	10	0.12661639	0.24072	T	0.004169	0.10026	T	0.056	0.15993	0.19	0.10039	0.222439326576	0.21863	0.2356190119927257	0.23476	0.162702542639	0.18360	0.486659765244	0.36976	T	0.043648	0.26569	T	-0.26956	0.11805	T	-0.624981	0.10798	T	0.589373826980591	0.35981	D	0.844815	0.56549	T	0.17356452	0.38112	0.3176821	0.57741	0.17356452	0.38111	0.3176821	0.57741	-3.45	0.15738	T	.	.	0.117	0.23640	B	.;.;.	.;.;.	2.684793	0.35034	19.79	0.83225243468858157	0.14610	0.68447	0.33805	D	AEFDBI	0.175621	0.30280	N	-0.308744411522723	0.28816	1.592539	-0.135753199447611	0.33960	1.948272	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	31.43	99	chr9	114406373	.	C	G	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.928;DP=918;ExcessHet=0;FS=99.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.15;ReadPosRankSum=1.41;SOR=7.168	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1608.71	231	chr9	114406374	.	C	G	1608.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.344;DP=1986;ExcessHet=4.5998;FS=133.457;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.598;SOR=11.61	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:196,51:247:99:.:.:190,0,6235:.	3	0	6	1
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	961.48	240	chr9	114406375	.	C	G	961.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.01;DP=1757;ExcessHet=0.7463;FS=122.086;InbreedingCoeff=-0.1776;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.49;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:196,16:235:42:.:.:0,42,7932:.	7	0	3	0
chr9	114423486	114423486	G	A	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon3:c.C401T:p.P134L,WHRN:NM_001083885:exon7:c.C305T:p.P102L,WHRN:NM_001173425:exon7:c.C1454T:p.P485L,WHRN:NM_015404:exon7:c.C1454T:p.P485L	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	54819	Usher_syndrome_type_2D|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_31	MONDO:MONDO:0012662,MedGen:C1568249,OMIM:611383,Orphanet:231178,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011767,MedGen:C1846839,OMIM:607084,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	.	0.0028	0.00199681	0.0034	0.0011	0.0008	0.0001	0.0178	0.0032	0.0088	0.0031	0.0030983	479	154602	rs79572315	0.0031	0.0031	0.0031	0.0031	0.0036	0.0030	0.0030	0.0033	0.0032	0.0013	0.0007	3.829e-05	0.0001	0.0166	0.0026	0.0027	0.0031	0.0036	0.0035	0.0035	0.0026	0.0046	0.0024	0.0033	0.0032	0.0021	0.0020	0.0015	0	0.0009	0	0.0006	0.0265	0	0.0024	0.0014	0.0021	0.009	0.63226	D	0.196	0.36365	T	0.997	0.77913	D	0.974	0.73157	D	0.000001	0.62929	N	0.058329	1	0.81001	D	2.67	0.78151	M	3.73	0.10674	T	-5.16	0.83422	D	0.765	0.76296	-1.1289	0.01836	T	0.058	0.24204	T	10	0.008380979	0.00190	T	.	.	.	0.244	0.55061	.	.	0.522928537951	0.51938	0.5321338413449586	0.53138	0.506194394545	0.48837	0.606746792793	0.53856	T	0.515533	0.82957	D	-0.379909	0.03120	T	-0.32154	0.42405	T	0.0214574827305478	0.00849	T	0.918008	0.75346	D	0.36924544	0.58529	0.29008386	0.55031	0.32678905	0.55206	0.26182386	0.51965	-9.459	0.75811	D	.	.	0.140	0.34840	B	.;.;.	.;.;.	5.500997	0.91587	32	0.99868317066776546	0.94637	0.98118	0.79751	D	AEFDBI	0.855583	0.77271	D	0.692525358861219	0.79144	7.015778	0.651573562423459	0.78729	6.934922	0.999999996252282	0.74766	0.626454	0.40138	0	0.670034	0.63936	0	0.80507	0.99327	0	0.616125	0.45549	0	.	.	5.3	4.41	0.52588	9.083000	0.93460	9.782000	0.81603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0739:0.0:0.9261:0.0	13.759	0.62441	702	0.57624	.;.;.	.	.	.	.	rs79572315	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1975.43	33	chr9	114423486	.	G	A	1975.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.33;SOR=0.73	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr9	116698964	116698964	C	T	exonic	TRIM32	.	nonsynonymous SNV	TRIM32:NM_001099679:exon2:c.C1222T:p.R408C,TRIM32:NM_001379049:exon2:c.C1222T:p.R408C,TRIM32:NM_001379050:exon2:c.C1222T:p.R408C,TRIM32:NM_012210:exon2:c.C1222T:p.R408C,TRIM32:NM_001379048:exon3:c.C1222T:p.R408C	Muscular dystrophy, limb-girdle, type 2H, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	106460	not_specified|not_provided|Bardet-Biedl_syndrome|Sarcotubular_myopathy|Bardet-Biedl_syndrome_11	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MONDO:MONDO:0009683,MedGen:C0270968,OMIM:254110,Orphanet:1878|MONDO:MONDO:0014439,MedGen:C1859569,OMIM:615988,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.519	0.15380590215	0.0015	0.000798722	0.0014	0.0004	0.0004	0.0002	0	0.0021	0	0.0015	0.0013842	214	154602	rs3747835	0.0017	0.0017	0.0018	0.0017	0.0019	0.0017	0.0016	0.0018	0.0018	0.0004	0.0006	0.0058	0.0007	3.747e-05	0.0002	0.0019	0.0015	0.0013	0.0011	0.0011	0.0012	0.0010	0.0018	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0009	0.0040	0.0002	0	0	0.0018	0.0024	0.0012	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.703	0.54270	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-2.68	0.90391	D	-2.51	0.54546	D	0.721	0.72299	0.201	0.85918	D	0.634	0.87179	D	9	0.024597973	0.00682	T	0.153806	0.83502	D	0.519	0.79522	.	.	0.974609669287	0.97433	0.754966640632985	0.75443	0.91729132677	0.71283	0.771461009979	0.77643	T	0.553567	0.84927	D	0.00608991	0.52491	T	0.229187	0.84631	D	0.0537024562211095	0.06139	T	0.949105	0.80429	D	0.38659096	0.59789	0.26819614	0.52686	0.33348995	0.55755	0.22271717	0.47125	-3.536	0.16940	T	.	.	0.252	0.49383	B	.;.	.;.	5.217261	0.87555	29.3	0.99908777165075024	0.97875	0.97181	0.73167	D	AEFDBI	0.761866	0.69945	D	0.4590343015275	0.64716	4.732678	0.525650914663359	0.69722	5.401061	0.999999999494442	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.476000	0.59950	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1495:0.8505:0.0:0.0	14.202	0.65251	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4198.14	148	chr9	116698964	.	C	T	4198.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.49;DP=586;ExcessHet=0.2348;FS=3.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.884;SOR=0.659	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1227	8	0	2	0
chr9	116863665	116863665	C	T	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_014010:exon10:c.G1805A:p.R602H,ASTN2:NM_001365068:exon11:c.G1958A:p.R653H,ASTN2:NM_001365069:exon11:c.G1946A:p.R649H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.0136851543803	.	0.000199681	3.297e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs200637292	3.42e-05	3.42e-05	3.403e-05	3.438e-05	0.0002	2.631e-05	2.375e-05	0.0002	0.0001	8.961e-05	0.0002	0	0	0	0.0002	7.194e-06	9.935e-05	0.0002	0.0002	0.0002	5.14e-05	0.0003	0.0014	0.0001	9.237e-05	0.0009	0.0008	4.814e-05	0	0.0014	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.88582	D	0.000081	0.51296	D	0.131355	1	0.81001	D	0.895	0.22405	L	2.6	0.15145	T	-1.96	0.45404	N	0.882	0.88577	-1.1458	0.01156	T	0.086	0.33550	T	9	0.15670553	0.29507	T	0.013685	0.33266	T	0.291	0.61040	.	.	0.043077524339	0.03247	0.5924561915163101	0.59175	0.289159646238	0.31319	0.781055152416	0.79086	T	0.068798	0.33547	T	-0.0614242	0.42685	T	-0.0256841	0.68654	D	0.226003162559074	0.21759	T	0.969503	0.89043	D	0.13563421	0.31471	0.10576441	0.25432	0.13563421	0.31471	0.10576441	0.25431	-9.027	0.69927	D	.	.	0.724	0.76317	P	.;.;.	.;.;.	5.614856	0.92560	32	0.99863758204508302	0.94184	0.99476	0.96499	D	AEFI	0.921723	0.89563	D	0.688065386612988	0.78850	6.955439	0.729811602459679	0.84643	8.349194	0.999999999999811	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	7.536000	0.80930	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.838	0.96663	773	0.48803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	33	chr9	116863665	.	C	T	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.174;DP=456;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.31;SOR=0.54	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	9	0	1	0
chr9	117414920	117414920	G	A	exonic	ASTN2	.	nonsynonymous SNV	ASTN2:NM_001365068:exon1:c.C19T:p.R7W,ASTN2:NM_001365069:exon1:c.C19T:p.R7W,ASTN2:NM_014010:exon1:c.C19T:p.R7W	.	446	1070	5	1	0	7	0.00326036	.	.	.	2335308	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.628503391134	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1024122669	0.0002	0.0002	0.0003	0.0002	0.0011	0.0002	0.0002	0.0002	0.0002	0	0.0003	0	0	0	0.0011	0.0003	0.0004	0	0.0002	0.0002	0.0003	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	2.437e-05	0	6.667e-05	0	0	0	0	0.0004	0.0005	0	0.0	0.91255	D	0.003	0.76473	D	0.972	0.60381	D	0.14	0.36707	B	.	.	.	.	1	0.81001	D	0	0.06538	N	2.8	0.11407	T	-0.13	0.08971	N	0.15	0.30233	-0.9979	0.30507	T	0.011	0.04227	T	8	0.1547525	0.29183	T	0.628503	0.96803	D	0.094	0.27141	0.242	0.17524	0.043077524339	0.03247	0.3856249486856828	0.38477	1.95493431167	0.93394	0.897190451622	0.96122	D	0.012024	0.10639	T	-0.201745	0.20554	T	-0.527569	0.19530	T	0.591246787192722	0.36055	D	0.719828	0.35112	T	0.1727668	0.37987	0.26475748	0.52300	0.1727668	0.37986	0.26475748	0.52299	-5.188	0.38819	T	.	.	0.585	0.68247	P	.;.	.;.	4.092826	0.60974	24.3	0.99630521077966683	0.76020	0.18573	0.20316	N	AEFDBCI	0.208925	0.33496	N	-0.214965823311667	0.32519	1.834833	-0.173867203863656	0.32501	1.849703	0.999999857593612	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	2.56	2.56	0.29842	0.544000	0.22960	5.573000	0.48948	0.296000	0.18849	0.001000	0.13787	1.000000	0.68203	0.704000	0.34264	0.1646:0.0:0.8354:0.0	5.938	0.18413	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001767	0.000000	0.000000	0.000000	0.000000	0.000000	0.008475	0.000000	0.05	350.36	4	chr9	117414920	.	G	A	350.36	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.185;DP=55;ExcessHet=0;FS=0;InbreedingCoeff=-0.1124;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=25.03;ReadPosRankSum=-1.006;SOR=0.307	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,33	9	0	1	0
chr9	121107948	121107948	C	G	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001369893:exon7:c.C955G:p.Q319E,CNTRL:NM_001369894:exon7:c.C955G:p.Q319E,CNTRL:NM_001369895:exon7:c.C454G:p.Q152E,CNTRL:NM_001369896:exon7:c.C955G:p.Q319E,CNTRL:NM_007018:exon8:c.C955G:p.Q319E	.	.	.	.	.	.	.	.	.	.	.	3304949	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.0107474332903	.	.	2.529e-05	0	0	0	0.0002	1.536e-05	0	6.182e-05	1.94e-05	3	154602	rs1174581971	4.345e-05	4.446e-05	3.844e-05	4.852e-05	0.0002	3.471e-05	3.155e-05	3.642e-05	3.298e-05	0	0	0	0	0.0001	0.0002	4.691e-05	1.671e-05	2.381e-05	3.945e-05	3.941e-05	3.856e-05	4.039e-05	5.882e-05	1.716e-05	1.13e-05	1.972e-05	1.125e-05	2.415e-05	0	0	0	0	9.439e-05	0	5.882e-05	0	0	0.435	0.21550	T	0.62	0.57587	T	0.044	0.21686	B	0.014	0.16862	B	.	.	.	.	0.930045	0.29103	N	1.21	0.30464	L	1.9	0.23486	T	0.31	0.04022	N	0.302	0.34552	-1.0430	0.16413	T	0.044	0.18906	T	9	0.064575344	0.08585	T	0.010747	0.27641	T	0.085	0.24743	.	.	0.207176502487	0.20327	0.17562610627883982	0.17481	0.0720572644519	0.08078	0.306818664074	0.11426	T	0.01129	0.11764	T	-0.36416	0.03900	T	-0.576224	0.14883	T	0.0955178562064553	0.11857	T	0.868713	0.57175	D	0.13095072	0.30540	0.14275065	0.33949	0.13095072	0.30540	0.14275065	0.33948	-4.604	0.32222	T	.	.	0.076	0.08176	B	.;.;.	.;.;.	2.951608	0.39279	20.9	0.97714817121095399	0.35519	0.94044	0.59944	D	AEFDGBI	0.403973	0.47744	N	-0.165913787867927	0.34561	1.974105	0.064393942992836	0.42772	2.593072	0.999999971909924	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.98	5.98	0.97147	3.253000	0.51170	5.998000	0.52441	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.1484:0.8516:0.0:0.0	14.301	0.65906	933	0.16026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	552.43	34	chr9	121107948	.	C	G	552.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.565;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=0.814;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	9	0	1	0
chr9	121301978	121301978	G	T	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon2:c.G160T:p.V54L,GSN:NM_001127662:exon2:c.G7T:p.V3L,GSN:NM_001258029:exon2:c.G58T:p.V20L,GSN:NM_001258030:exon2:c.G31T:p.V11L,GSN:NM_001353055:exon3:c.G7T:p.V3L,GSN:NM_001353057:exon3:c.G7T:p.V3L,GSN:NM_001353062:exon3:c.G7T:p.V3L,GSN:NM_001353063:exon3:c.G40T:p.V14L,GSN:NM_001353067:exon3:c.G40T:p.V14L,GSN:NM_001353075:exon3:c.G40T:p.V14L,GSN:NM_001353077:exon3:c.G40T:p.V14L,GSN:NM_198252:exon3:c.G7T:p.V3L,GSN:NM_001127663:exon4:c.G115T:p.V39L,GSN:NM_001127664:exon4:c.G7T:p.V3L,GSN:NM_001127665:exon4:c.G7T:p.V3L,GSN:NM_001127666:exon4:c.G40T:p.V14L,GSN:NM_001127667:exon4:c.G40T:p.V14L,GSN:NM_001353056:exon4:c.G7T:p.V3L,GSN:NM_001353058:exon4:c.G7T:p.V3L,GSN:NM_001353059:exon4:c.G7T:p.V3L,GSN:NM_001353060:exon4:c.G7T:p.V3L,GSN:NM_001353061:exon4:c.G7T:p.V3L,GSN:NM_001353070:exon4:c.G40T:p.V14L,GSN:NM_001353076:exon4:c.G79T:p.V27L,GSN:NM_001353064:exon5:c.G40T:p.V14L,GSN:NM_001353065:exon5:c.G40T:p.V14L,GSN:NM_001353066:exon5:c.G40T:p.V14L,GSN:NM_001353068:exon5:c.G40T:p.V14L,GSN:NM_001353069:exon5:c.G40T:p.V14L,GSN:NM_001353071:exon5:c.G40T:p.V14L,GSN:NM_001353072:exon5:c.G40T:p.V14L,GSN:NM_001353074:exon5:c.G40T:p.V14L,GSN:NM_001353073:exon6:c.G40T:p.V14L,GSN:NM_001353053:exon11:c.G7T:p.V3L,GSN:NM_001353054:exon11:c.G7T:p.V3L	Amyloidosis, Finnish type, Autosomal dominant	0	1518	3	0	1	4	0.000987167	.	.	.	900974	not_provided|Finnish_type_amyloidosis|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120,Orphanet:85448|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.00996342020425	0.0002	.	9.064e-05	9.614e-05	8.64e-05	0	0	7.496e-05	0	0.0002	7.12e-05	11	154602	rs138068754	5.472e-05	5.472e-05	4.628e-05	6.325e-05	0.0026	4.477e-05	4.147e-05	0.0016	0.0013	0	4.472e-05	0	0	0	0.0026	3.148e-05	6.623e-05	0.0003	4.598e-05	4.596e-05	5.137e-05	4.034e-05	0.0002	2.109e-05	1.526e-05	2.846e-05	1.858e-05	0	0	6.541e-05	0	0	0	0	7.349e-05	0	0.0002	0.17	0.25355	T	0.097	0.40909	T	0.564	0.38410	P	0.067	0.27542	B	0.003382	0.35013	N	0.265966	0.99994	0.52396	D	2.005	0.54552	M	2.44	0.19311	T	-0.39	0.23156	N	0.2	0.30347	-1.0994	0.04164	T	0.042	0.18076	T	10	0.12689078	0.24127	T	0.009963	0.25923	T	0.068	0.19811	0.219	0.14078	0.529361283073	0.52585	0.45519307499845835	0.45437	0.410812321046	0.41857	0.56973028183	0.48639	T	0.020732	0.52275	T	-0.299015	0.08754	T	-0.371099	0.36760	T	0.084365762926115	0.10536	T	0.89941	0.64770	D	0.16233182	0.36303	0.16296643	0.37829	0.16233182	0.36302	0.16296643	0.37828	-3.779	0.20491	T	.	.	0.226	0.56895	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.040471	0.40762	21.2	0.9929754331721129	0.58505	0.97821	0.77381	D	AEFDBHCI	0.967672	0.99014	D	-0.14016193951897	0.35655	2.050727	0.0241116953902468	0.40837	2.443573	0.999999999277477	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.493711	0.08198	1	0.714379	0.83352	0	.	.	4.97	4.07	0.46726	7.732000	0.83846	5.809000	0.49993	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0904:0.0:0.9096:0.0	11.223	0.48096	929	0.16858	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	861.43	38	chr9	121301978	.	G	T	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.474;DP=389;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.365;SOR=0.516	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1056	9	0	1	0
chr9	122093114	122093114	G	A	exonic	TTLL11	.	nonsynonymous SNV	TTLL11:NM_001139442:exon1:c.C35T:p.A12V,TTLL11:NM_194252:exon1:c.C35T:p.A12V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.156356889813	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1023386889	2.158e-05	2.258e-05	2.349e-05	1.962e-05	0.0005	1.514e-05	1.309e-05	8.675e-05	3.606e-05	0	9.473e-05	0.0003	0	2.952e-05	0.0005	1.413e-05	1.784e-05	1.337e-05	2.632e-05	2.628e-05	2.572e-05	2.694e-05	5.887e-05	8.15e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.887e-05	0	0	0.012	0.58626	D	0.151	0.38891	T	0.034	0.20480	B	0.007	0.12992	B	0.000008	0.00162	U	2587.460000	0.999988	0.18198	N	0.895	0.22405	L	3.27	0.08106	T	-0.33	0.12472	N	0.04	0.04188	-0.9814	0.34678	T	0.013	0.04843	T	9	0.055910528	0.06185	T	0.156357	0.83714	D	0.048	0.13305	0.24	0.17218	0.0611884634855	0.05136	0.11513726430082681	0.11441	0.640380169956	0.57670	0.79608476162	0.81368	T	0.008181	0.07523	T	-0.325107	0.06488	T	-0.70477	0.05568	T	0.284829497337341	0.24374	T	0.473853	0.14122	T	0.10018273	0.23651	0.08887225	0.20749	0.10018273	0.23651	0.08887225	0.20748	-5.282	0.40543	T	.	.	0.1	0.21803	B	.;.	.;.	2.345207	0.30063	18.32	0.996466624910196	0.77005	0.00392	0.01969	N	AEFDGBHCI	0.056065	0.10334	N	-0.919954713679333	0.10376	0.4955212	-0.864403828831929	0.12942	0.6686504	0.999999999970455	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.608004	0.38603	0	0.603991	0.37454	0	.	.	4.73	1.82	0.24209	-0.222000	0.09195	0.550000	0.19412	0.566000	0.28629	0.000000	0.06391	0.061000	0.22037	0.943000	0.48514	0.1754:0.1553:0.5091:0.1601	2.111	0.03477	888	0.27761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	453.43	37	chr9	122093114	.	G	A	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.862;DP=348;ExcessHet=0;FS=1.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.21;SOR=0.469	GT:AD:DP:GQ:PL	0/1:15,18:33:99:465,0,459	9	0	1	0
chr9	122390342	122390342	G	A	exonic	PTGS1	.	nonsynonymous SNV	PTGS1:NM_001271164:exon9:c.G1297A:p.V433I,PTGS1:NM_001271165:exon9:c.G1114A:p.V372I,PTGS1:NM_000962:exon10:c.G1441A:p.V481I,PTGS1:NM_001271166:exon10:c.G1003A:p.V335I,PTGS1:NM_001271367:exon10:c.G1003A:p.V335I,PTGS1:NM_080591:exon10:c.G1330A:p.V444I,PTGS1:NM_001271368:exon11:c.G1255A:p.V419I	.	412	1099	10	1	0	12	0.00542986	.	.	.	3185198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.250	.	0.0058	0.00658946	0.0076	0.0020	0.0057	0.0004	0.0068	0.0100	0.0057	0.0065	0.0073932	1143	154602	rs5794	0.0082	0.0082	0.0081	0.0082	0.0088	0.0080	0.0080	0.0086	0.0086	0.0024	0.0058	0.0118	0.0003	0.0074	0.0064	0.0088	0.0072	0.0076	0.0063	0.0063	0.0061	0.0064	0.0086	0.0060	0.0058	0.0080	0.0078	0.0025	0	0.0080	0.0081	0	0.0051	0.0136	0.0086	0.0095	0.0085	0.004	0.78490	D	0.01	0.76473	D	0.1	0.25713	B	0.108	0.31289	B	0.000066	0.52346	D	0.197844	0.963965	0.26002	N	0	0.06538	N	2.99	0.09262	T	-0.92	0.25118	N	0.225	0.25377	-1.0157	0.25110	T	0.012	0.04747	T	10	0.009871095	0.00221	T	.	.	.	0.250	0.55888	.	.	0.442363741745	0.43858	0.632608548182357	0.63194	0.271975426216	0.29707	0.484568476677	0.36686	T	0.136546	0.46898	T	-0.416541	0.01800	T	-0.360721	0.37969	T	0.0620336465735846	0.07485	T	0.873013	0.60027	D	0.2699408	0.50066	0.15628308	0.36596	0.2699408	0.50066	0.15628308	0.36595	-1.917	0.02914	T	.	.	0.105	0.24054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.622330	0.34083	19.53	0.99004802753294774	0.50231	0.17537	0.19880	N	AEFDGBCIJ	0.092179	0.18663	N	-0.362090131955795	0.26831	1.467337	-0.184664653741837	0.32098	1.822901	0.999999998826456	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.651303	0.49530	0	0.635259	0.50027	0	.	.	5.38	4.25	0.49658	7.512000	0.80617	8.123000	0.76630	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.9178:0.0:0.0822:0.0	9.787	0.39849	896	0.25515	.;.;.;.;.;.;.	.	.	PTGS1	Cells_Cultured_fibroblasts	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014617	0.030303	0.005435	0.020468	0.000000	0.017241	0.015337	0.015152	0.05	915.43	40	chr9	122390342	.	G	A	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.678;SOR=0.739	GT:AD:DP:GQ:PL	0/1:37,38:75:99:927,0,792	9	0	1	0
chr9	122567981	122567981	C	T	exonic	OR1L8	.	nonsynonymous SNV	OR1L8:NM_001004454:exon1:c.G497A:p.R166H	.	411	1110	1	0	0	1	0.000450248	.	.	.	2678601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00284720031967	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs373426364	2.668e-05	2.668e-05	2.178e-05	3.163e-05	0.0003	1.997e-05	1.754e-05	6.092e-05	2.521e-05	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	2.338e-05	0.0001	1.159e-05	3.289e-05	3.284e-05	1.285e-05	5.388e-05	4.41e-05	1.262e-05	7.99e-06	1.171e-05	6.25e-06	2.417e-05	0	0	0	0	9.445e-05	0	4.41e-05	0	0	0.049	0.39820	D	0.117	0.36365	T	0.037	0.20876	B	0.036	0.22909	B	0.020616	0.01536	N	2.578920	1	0.08975	N	1.36	0.34107	L	8.63	0.00155	T	-2.47	0.53898	N	0.041	0.01421	-0.9891	0.32828	T	0.000	0.00152	T	10	0.10308471	0.18931	T	0.002847	0.05986	T	0.033	0.08068	0.585	0.71245	0.117506650769	0.11410	0.14909408764596918	0.14831	0.0922132588364	0.10410	0.168194621801	0.00026	T	0.009957	0.09029	T	-0.516992	0.00458	T	-0.811271	0.01637	T	0.0671330068924307	0.08243	T	0.658834	0.26791	T	0.044203635	0.07024	0.04420983	0.05676	0.044203635	0.07023	0.04420983	0.05676	-4.887	0.35589	T	.	.	0.064	0.02370	B	.;.	.;.	-1.116216	0.00621	0.016	0.83178918993001827	0.14584	0.02945	0.07771	N	AEFGBI	0.060717	0.11559	N	-1.43794936688437	0.02313	0.1019955	-1.55948438697742	0.01911	0.08718438	0.934644011688942	0.27179	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.49	-8.98	0.00647	-3.138000	0.00648	-20.000000	0.00162	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4193:0.1963:0.0:0.3844	5.884	0.18117	941	0.13089	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1655.43	110	chr9	122567981	.	C	T	1655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=888;ExcessHet=0;FS=9.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.781;SOR=0.811	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	9	0	1	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.066465	0.232323	0.014946	0.032164	0.150000	0.008621	0.100610	0.034091	0.5	6507.37	305	chr9	122724732	.	T	C	6507.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.17;DP=3293;ExcessHet=7.0302;FS=29.826;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=58.43;MQRankSum=-15.33;QD=2.86;ReadPosRankSum=-7.039;SOR=4.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,47:329:99:0|1:122724732_T_C:979,0,11632:122724732	0	0	7	3
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	4321.95	292	chr9	122724738	.	T	C	4321.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.576;DP=2474;ExcessHet=7.0302;FS=34.706;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.47;MQRankSum=-16.72;QD=1.99;ReadPosRankSum=-5.814;SOR=6.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,36:316:99:0|1:122724732_T_C:669,0,11608:122724732	3	0	7	0
chr9	123367583	123367583	C	A	exonic	CRB2	.	stopgain	CRB2:NM_173689:exon6:c.C951A:p.C317X	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	425	1092	5	0	0	5	0.00228415	.	.	YES	3122308	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774871506	1.85e-05	2.394e-05	1.687e-05	2.017e-05	0.0002	1.287e-05	1.094e-05	3.203e-05	2.174e-05	0	0	0	0	0	0.0002	1.477e-05	5.15e-05	7.538e-05	1.973e-05	1.97e-05	3.856e-05	0	0.0002	5.25e-06	2.46e-06	.	.	2.415e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000126	0.49741	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.838	0.83371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.773626	0.95715	35	0.99450021050748305	0.65223	0.72613	0.35536	D	AEFGBI	0.385530	0.46624	N	0.260817125880536	0.54176	3.583871	0.01122039991398	0.40235	2.397992	0.99998492277037	0.51787	0.695654	0.57023	0	0.491552	0.07993	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.09	2.97	0.33479	0.739000	0.25841	-0.207000	0.10889	0.589000	0.31548	0.162000	0.23825	0.000000	0.08366	0.781000	0.36947	0.0:0.8044:0.0:0.1956	9.333	0.37194	372	0.84213	.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	545.43	34	chr9	123367583	.	C	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=365;ExcessHet=0;FS=2.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.566;SOR=1.136	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1070	9	0	1	0
chr9	123381490	123381490	A	C	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.T3005G:p.L1002R,DENND1A:NM_020946:exon22:c.T2972G:p.L991R,DENND1A:NM_001352964:exon24:c.T3155G:p.L1052R	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00580822536864	.	.	0.0003	0	8.684e-05	0	0	6.105e-05	0	0.0017	0.0002135	33	154602	rs761567995	0.0001	0.0001	6.809e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0009	2.788e-05	9.936e-05	0.0016	6.58e-05	6.57e-05	1.287e-05	0.0001	0.0015	3.521e-05	2.619e-05	0.0007	0.0005	0	0	0	0	0	0	0	4.412e-05	0	0.0015	0.264	0.16358	T	0.611	0.07666	T	0.032	0.20242	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.4	0.05642	T	-0.13	0.08971	N	0.167	0.17691	-1.0029	0.29080	T	0.023	0.09650	T	9	0.009923577	0.00222	T	0.005808	0.15101	T	0.035	0.08770	0.314	0.28935	0.0934897674506	0.08844	0.1352859953289202	0.13452	0.437939336455	0.43833	0.435364663601	0.29943	T	0.015486	0.12979	T	-0.607878	0.00130	T	-0.670579	0.07571	T	0.0343726402714769	0.02701	T	0.336666	0.07200	T	0.08632154	0.20061	0.07434975	0.16256	0.08632154	0.20060	0.07434975	0.16256	-3.857	0.21659	T	.	.	0.059	0.00730	B	.	.	1.566889	0.20063	14.57	0.7530031508259345	0.11022	0.50479	0.28672	D	AEFBI	0.161629	0.28771	N	-1.0805233358307	0.07003	0.3240166	-1.07647465512032	0.08165	0.4002653	0.987480657549588	0.31276	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	1.48	0.358	0.15319	-0.559000	0.06062	5.605000	0.49037	-0.534000	0.04951	0.958000	0.33488	1.000000	0.68203	0.112000	0.18829	0.2498:0.0:0.7502:0.0	3.898	0.08652	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.000000	0.1	1320.14	69	chr9	123381490	.	A	C	1320.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.34;DP=436;ExcessHet=0.2348;FS=1.317;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.257;SOR=0.823	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1166	8	0	2	0
chr9	123382480	123382480	G	A	exonic	DENND1A	.	nonsynonymous SNV	DENND1A:NM_001352965:exon21:c.C2015T:p.S672L,DENND1A:NM_020946:exon22:c.C1982T:p.S661L,DENND1A:NM_001352964:exon24:c.C2165T:p.S722L	.	411	1090	19	2	0	23	0.0104403	.	.	.	700791	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0040	0.00778754	0.0065	0.0016	0.0022	0.0107	0.0015	0.0056	0.0100	0.0155	0.0058796	909	154602	rs149353656	0.0060	0.0060	0.0057	0.0063	0.0153	0.0059	0.0058	0.0136	0.0134	0.0009	0.0025	0.0124	0.0107	0.0018	0.0153	0.0054	0.0074	0.0143	0.0047	0.0047	0.0047	0.0046	0.0172	0.0044	0.0043	0.0142	0.0131	0.0013	0.0055	0.0035	0.0124	0.0143	0.0010	0.0204	0.0055	0.0038	0.0172	0.728	0.03834	T	0.503	0.11078	T	0.0	0.02946	B	0.0	0.01387	B	0.077858	0.21079	N	0.460627	1	0.08975	N	1.595	0.40691	L	3.61	0.04446	T	-0.06	0.07882	N	0.023	0.00407	-1.0214	0.23259	T	0.015	0.05801	T	10	0.0024849474	0.00037	T	.	.	.	0.014	0.01968	.	.	0.102598925029	0.09809	0.12039123068237156	0.11966	0.266882232416	0.29225	0.305937558413	0.11293	T	0.015785	0.13173	T	-0.716801	0.00029	T	-0.790087	0.02162	T	1.83875618510104e-05	0.00000	T	0.70293	0.31283	T	0.036001902	0.04347	0.033401318	0.02229	0.036001902	0.04346	0.033401318	0.02229	-3.822	0.21134	T	.	.	0.070	0.03301	B	.	.	-0.066293	0.03848	0.828	0.57446845061756979	0.05771	0.17242	0.19752	N	AEFGBI	0.119193	0.23274	N	-0.895122886856267	0.10958	0.5263013	-0.835137910138829	0.13645	0.7089742	0.997878044778746	0.36137	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.06	1.79	0.23992	1.143000	0.31164	2.951000	0.35712	-0.768000	0.03469	0.399000	0.26162	0.947000	0.28924	0.007000	0.07825	0.467:0.0:0.533:0.0	6.514	0.21436	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013092	0.015152	0.013587	0.020468	0.050000	0.000000	0.006098	0.011364	0.05	1463.43	43	chr9	123382480	.	G	A	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=437;ExcessHet=0;FS=5.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.85;ReadPosRankSum=-1.26;SOR=0.732	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr9	124809919	124809919	A	G	exonic	OLFML2A	.	nonsynonymous SNV	OLFML2A:NM_001282715:exon5:c.A824G:p.Y275C,OLFML2A:NM_182487:exon8:c.A1466G:p.Y489C	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.453220146344	.	.	8.246e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs755296510	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.043	0.49942	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.735	0.94896	H	1.34	0.90792	T	-7.78	0.96946	D	0.958	0.96758	0.930	0.96097	D	0.866	0.95540	D	10	0.97341084	0.97017	D	0.45322	0.94380	D	0.834	0.94765	0.879	0.96784	0.831291030339	0.82968	0.9413621503062691	0.94117	0.589731283567	0.54461	0.902047157288	0.96664	D	0.845578	0.96437	D	0.423078	0.91181	D	0.467	0.93948	D	0.998443901538849	0.94168	D	0.973203	0.90384	D	0.9276174	0.93999	0.917786	0.96242	0.9276174	0.93999	0.917786	0.96243	-11.519	0.82653	D	.	.	0.988	0.93122	P	.;.	.;.	5.157570	0.86402	28.9	0.99816671914816302	0.89973	0.92238	0.55254	D	AEFDGBCI	0.837495	0.75512	D	0.836839570401464	0.88347	9.544126	0.814102783278942	0.90757	10.55431	1.0	0.98316	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	6.07	6.07	0.98675	7.488000	0.80254	11.301000	0.92311	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.81	0.78327	828	0.39726	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2049.43	36	chr9	124809919	.	A	G	2049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.67;DP=537;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.32;SOR=0.621	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1270	9	0	1	0
chr9	125302647	125302647	G	A	exonic	GAPVD1	.	nonsynonymous SNV	GAPVD1:NM_001282681:exon3:c.G850A:p.V284M,GAPVD1:NM_001330778:exon3:c.G850A:p.V284M,GAPVD1:NM_001354294:exon3:c.G850A:p.V284M,GAPVD1:NM_001354298:exon3:c.G850A:p.V284M,GAPVD1:NM_015635:exon3:c.G850A:p.V284M,GAPVD1:NM_001330777:exon4:c.G850A:p.V284M,GAPVD1:NM_001354295:exon4:c.G850A:p.V284M,GAPVD1:NM_001354300:exon4:c.G850A:p.V284M,GAPVD1:NM_001282679:exon5:c.G850A:p.V284M,GAPVD1:NM_001282680:exon5:c.G850A:p.V284M,GAPVD1:NM_001354293:exon5:c.G850A:p.V284M,GAPVD1:NM_001354296:exon5:c.G850A:p.V284M,GAPVD1:NM_001354297:exon5:c.G850A:p.V284M,GAPVD1:NM_001354301:exon5:c.G850A:p.V284M,GAPVD1:NM_001354299:exon6:c.G850A:p.V284M	.	435	1075	12	0	0	12	0.00555042	.	.	.	700797	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.356	0.0493472363448	0.0037	0.00359425	0.0040	0.0010	0.0022	0	0.0020	0.0046	0.0022	0.0079	0.0041526	642	154602	rs55779102	0.0046	0.0046	0.0045	0.0047	0.0078	0.0045	0.0044	0.0073	0.0071	0.0007	0.0028	7.653e-05	5.038e-05	0.0020	0.0043	0.0049	0.0045	0.0078	0.0031	0.0031	0.0031	0.0031	0.0075	0.0028	0.0028	0.0056	0.0049	0.0007	0	0.0035	0.0006	0.0004	0.0014	0.0034	0.0047	0.0043	0.0075	0.001	0.78490	D	0.0	0.92824	D	0.991	0.90584	D	0.883	0.83170	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.445	0.36358	L	-1.32	0.79761	T	-2.41	0.54217	N	0.715	0.74826	0.156	0.85154	D	0.551	0.83550	D	10	0.013211578	0.00281	T	0.049347	0.63771	D	0.684	0.88443	.	.	0.876937445428	0.87573	0.6580388427450596	0.65740	0.613198805805	0.55896	0.82372969389	0.85600	D	0.39639	0.75503	T	-0.00825578	0.50510	T	0.21993	0.84170	D	0.0236995626025245	0.01108	T	0.927307	0.73215	D	0.5044271	0.67354	0.45495492	0.68310	0.5044271	0.67355	0.45495492	0.68311	-12.889	0.89389	D	.	.	0.168	0.63769	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.108793	0.85399	28.6	0.99895898233659841	0.96895	0.99304	0.94225	D	AEFBI	0.893476	0.83148	D	0.843781982928702	0.88749	9.697589	0.873656879893523	0.94320	12.66926	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.878000	0.85659	11.828000	0.97436	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.868	0.96822	814	0.42100	Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;Ras GTPase-activating domain|Ras GTPase-activating domain;.;Ras GTPase-activating domain|Ras GTPase-activating domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.010101	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2425.43	34	chr9	125302647	.	G	A	2425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=510;ExcessHet=0;FS=1.963;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=0.064;SOR=0.552	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1079	9	0	1	0
chr9	126693840	126693840	G	A	exonic	LMX1B	.	nonsynonymous SNV	LMX1B:NM_001174146:exon6:c.G914A:p.G305D	Nail-patella syndrome, Autosomal dominant	16	1474	32	0	0	32	0.0107383	.	.	.	1196037	not_specified|not_provided|LMX1B-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	.	0.0013	0.00319489	0.0092	0.0101	0.0093	0	0	0.0230	0	0.0040	0.0018628	288	154602	rs150656317	0.0045	0.0042	0.0044	0.0045	0.0245	0.0043	0.0043	0.0202	0.0186	0.0036	0.0039	0.0252	0	0.0004	0.0245	0.0042	0.0059	0.0031	0.0043	0.0043	0.0043	0.0043	0.0078	0.0041	0.0040	0.0066	0.0062	0.0025	0.0121	0.0078	0.0196	0.0002	0.0004	0.0510	0.0046	0.0043	0.0033	0.463	0.08660	T	0.507	0.10930	T	0.017	0.17573	B	0.007	0.12992	B	.	.	.	.	0.999979	0.18612	N	.	.	.	-1.04	0.76561	T	1.02	0.01369	N	0.103	0.09207	-1.0176	0.24495	T	0.093	0.35498	T	8	0.0039789677	0.00077	T	.	.	.	0.108	0.30607	.	.	0.434880891158	0.43107	0.7508548163077582	0.75032	1.33916717862	0.83813	.	.	.	0.097566	0.40051	T	-0.482546	0.00715	T	-0.464692	0.26090	T	0.000464322505933536	0.00004	T	0.379762	0.09155	T	.	.	.	.	.	.	.	.	-5.937	0.45749	T	.	.	0.204	0.46144	B	.;.	.;.	-0.065214	0.03855	0.832	0.30846492148849086	0.01708	0.00801	0.03263	N	AEFBI	0.036664	0.04922	N	-1.15848612729208	0.05641	0.2577192	-1.25131830733616	0.05111	0.24279	0.987308238982138	0.31233	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.02	-0.16	0.12720	-0.172000	0.09858	0.677000	0.20646	-0.939000	0.02101	0.145000	0.23581	0.035000	0.21413	0.002000	0.04165	0.0:0.2631:0.4685:0.2684	4.144	0.09675	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.026846	0.006410	0.044643	0.039394	0.000000	0.029412	0.020690	0.004132	0.1	374.14	36	chr9	126693840	.	G	A	374.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=266;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=1.79;SOR=0.646	GT:AD:DP:GQ:PL	0/0:22,0:22:63:0,63,945	8	0	2	0
chr9	127444742	127444742	T	A	exonic	ZNF79	.	nonsynonymous SNV	ZNF79:NM_001286698:exon3:c.T640A:p.F214I,ZNF79:NM_001286696:exon5:c.T970A:p.F324I,ZNF79:NM_007135:exon5:c.T1042A:p.F348I,ZNF79:NM_001286697:exon6:c.T970A:p.F324I,ZNF79:NM_001322260:exon6:c.T970A:p.F324I	.	.	.	.	.	.	.	.	.	.	.	3361618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00436180461204	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs754073409	4.126e-06	4.104e-06	2.738e-06	5.528e-06	0.0003	1.48e-06	9.8e-07	6.129e-05	2.535e-05	0	0	0	0	0	0.0003	0	0	4.651e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.003	0.76473	D	0.901	0.49677	P	0.444	0.45865	B	.	.	.	.	1	0.08975	N	0.835	0.21042	L	3.45	0.05311	T	0.94	0.01839	N	0.204	0.27673	-1.0165	0.24852	T	0.019	0.07800	T	9	0.15938735	0.29949	T	0.004362	0.10624	T	0.112	0.31546	0.596	0.72617	0.456552270603	0.45279	0.08447706135378688	0.08381	0.265924816147	0.29141	0.699160516262	0.67023	T	0.085621	0.48543	T	-0.302496	0.08425	T	-0.490763	0.23311	T	0.273229039458972	0.23885	T	0.318868	0.07261	T	0.1619092	0.36232	0.14931688	0.35260	0.1619092	0.36231	0.14931688	0.35259	-5.576	0.42573	T	.	.	0.416	0.74447	A	.;.;.;.	.;.;.;.	2.189736	0.27918	17.62	0.97531610462372154	0.34464	0.15474	0.18929	N	AEFDGBHCI	0.066728	0.13081	N	-0.205402128803622	0.32910	1.861362	-0.285917248472244	0.28561	1.59347	0.999999987039505	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	3.59	3.59	0.40253	0.057000	0.14157	-0.319000	0.09979	-0.189000	0.09497	0.007000	0.17678	0.001000	0.17328	0.756000	0.36000	0.0:0.0:0.0:1.0	10.195	0.42225	510	0.75209	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2404.43	160	chr9	127444742	.	T	A	2404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=518;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.02;SOR=0.866	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	389.9	74	chr9	127707148	.	G	C	389.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.688;DP=599;ExcessHet=3.2736;FS=188.579;InbreedingCoeff=-0.4349;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0.654;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:57:59:.:.:59,174,913:.	7	0	1	2
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	62.12	53	chr9	127707149	.	T	C	62.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.429;DP=520;ExcessHet=0;FS=110.281;InbreedingCoeff=-0.1326;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.345;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:54:.:.:0,54,961:.	7	0	1	2
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	119.12	62	chr9	127707150	.	T	C	119.12	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-1.465;DP=451;ExcessHet=0.2633;FS=83.411;InbreedingCoeff=-0.1905;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=2.3;SOR=5.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:52,0:52:57:.:.:0,57,1193:.	6	0	2	2
chr9	127709469	127709469	G	A	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon2:c.G209A:p.R70H	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00883925515285	0.0003	0.000399361	0.0002	0	0	0	0	0.0002	0	0.0003	0.0001617	25	154602	rs372321100	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0	2.237e-05	0	5.038e-05	1.879e-05	0.0009	0.0002	0.0001	0.0008	0.0001	0.0001	6.424e-05	0.0002	0.0002	7.086e-05	5.743e-05	0.0001	8.876e-05	2.406e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0002	0.133	0.26409	T	0.069	0.45961	T	0.516	0.37437	P	0.063	0.27082	B	0.026317	0.25941	N	0.451476	0.998678	0.21993	N	.	.	.	0.92	0.44461	T	-2.15	0.48687	N	0.317	0.35727	-1.0768	0.07983	T	0.065	0.26948	T	10	0.05564767	0.06116	T	0.008839	0.23318	T	0.031	0.07369	.	.	0.519187973786	0.51563	0.25266778676588714	0.25180	0.908210176279	0.70936	.	.	.	0.051506	0.28899	T	-0.434093	0.01401	T	-0.51189	0.21121	T	0.0703867058637956	0.08704	T	0.759724	0.38410	T	0.055521592	0.10801	0.0561324	0.09975	0.055521592	0.10800	0.0561324	0.09974	-6.814	0.57540	T	.	.	0.09	0.12607	B	.;.	.;.	2.818074	0.37116	20.4	0.99607729246223076	0.74634	0.54234	0.29566	D	AEFGBCI	0.120243	0.23432	N	-0.139241537740942	0.35695	2.053498	-0.0551691638916645	0.37267	2.179737	0.999258224189872	0.38906	0.660377	0.49826	0	0.588066	0.40923	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.12	3.22	0.36041	1.303000	0.33075	1.723000	0.28273	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.608000	0.31589	0.1876:0.0:0.8124:0.0	8.615	0.32988	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	860.43	34	chr9	127709469	.	G	A	860.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.283;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	9	0	1	0
chr9	127747257	127747257	C	T	exonic	SH2D3C	.	nonsynonymous SNV	SH2D3C:NM_001142533:exon4:c.G680A:p.R227H,SH2D3C:NM_001142534:exon4:c.G674A:p.R225H,SH2D3C:NM_001142531:exon5:c.G92A:p.R31H,SH2D3C:NM_001142532:exon5:c.G92A:p.R31H,SH2D3C:NM_005489:exon5:c.G683A:p.R228H,SH2D3C:NM_001252334:exon6:c.G950A:p.R317H,SH2D3C:NM_170600:exon6:c.G1154A:p.R385H	.	423	1098	1	0	0	1	0.000455166	.	.	.	2362237	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0069137101531	0.0002	.	0.0002	9.86e-05	8.79e-05	0.0001	0	7.648e-05	0	0.0008	0.0001423	22	154602	rs140336739	0.0001	0.0001	6.539e-05	0.0001	0.0010	9.098e-05	8.605e-05	0.0008	0.0008	0	2.237e-05	0	0.0001	0	0.0004	4.857e-05	9.942e-05	0.0010	4.602e-05	5.254e-05	6.425e-05	2.692e-05	0.0006	2.11e-05	1.527e-05	0.0002	9e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0006	0.473	0.12148	T	0.558	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000155	0.49130	N	0.239384	0.794131	0.34425	D	-1.735	0.00332	N	2.7	0.20808	T	0.87	0.02007	N	0.062	0.04188	-0.9897	0.32677	T	0.015	0.06090	T	10	0.010110617	0.00226	T	0.006914	0.18289	T	0.040	0.10527	.	.	0.449669948863	0.44590	0.15152059900254194	0.15074	0.495590999531	0.48094	0.19736994803	0.00384	T	0.021106	0.16497	T	-0.524778	0.00412	T	-0.585775	0.14034	T	0.0223928361241865	0.00953	T	0.814719	0.46890	T	0.027732179	0.02008	0.029225674	0.01237	0.027732179	0.02007	0.029225674	0.01237	-4.625	0.39913	T	.	.	0.054	0.00444	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.613228	0.20610	14.83	0.88626042592092735	0.18125	0.10731	0.16153	N	AEFDGBHCI	0.083214	0.16858	N	-0.797906477012736	0.13364	0.6578424	-0.566873929578278	0.20359	1.096536	0.999990506763312	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	5.34	2.92	0.32998	2.454000	0.44636	1.913000	0.29659	-0.313000	0.06017	1.000000	0.71638	1.000000	0.68203	0.668000	0.33194	0.0:0.0802:0.1484:0.7714	7.012	0.24044	294	0.88270	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1530.43	33	chr9	127747257	.	C	T	1530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=424;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.871;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	9	0	1	0
chr9	127980007	127980007	A	G	exonic	FAM102A	.	nonsynonymous SNV	FAM102A:NM_001035254:exon1:c.T131C:p.V44A	.	.	.	.	.	.	.	.	.	.	.	3248428	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.00531887321068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.03134	T	0.701	0.05707	T	0.0	0.02946	B	0.001	0.04355	B	0.019358	0.27277	N	0.366716	0.974646	0.39122	D	-0.255	0.03828	N	1.02	0.40749	T	0.36	0.03700	N	0.096	0.07673	-1.0857	0.06281	T	0.056	0.23527	T	10	0.06942579	0.09959	T	0.005319	0.13618	T	0.034	0.08419	0.252	0.19067	0.319114376414	0.31517	0.19507635666791973	0.19425	1.31384836846	0.83279	0.604379057884	0.53523	T	0.025719	0.19174	T	-0.329415	0.06155	T	-0.710958	0.05246	T	0.194768741726875	0.20122	T	0.707729	0.31835	T	0.042100772	0.06324	0.05990874	0.11322	0.042100772	0.06324	0.05990874	0.11321	-6.354	0.49149	T	.	.	0.082	0.08705	B	.	.	2.969256	0.39573	21.0	0.945863427786377	0.25134	0.45353	0.27519	N	ALL	0.131634	0.25065	N	-0.513983331471843	0.21627	1.149145	-0.347529641144298	0.26586	1.469431	0.999999999379689	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.87	2.14	0.26518	1.777000	0.38234	7.937000	0.75328	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.7331:0.0:0.2669:0.0	7.446	0.26380	395	0.83006	NT-type C2 domain|NT-type C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1316.43	34	chr9	127980007	.	A	G	1316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.29;DP=444;ExcessHet=0;FS=3.556;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.45;SOR=1.063	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	9	0	1	0
chr9	128276715	128276715	C	A	exonic	SWI5	.	nonsynonymous SNV	SWI5:NM_001040011:exon2:c.C191A:p.P64Q,SWI5:NM_001318089:exon2:c.C71A:p.P24Q,SWI5:NM_001318092:exon2:c.C98A:p.P33Q,SWI5:NM_001379267:exon2:c.C218A:p.P73Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0181485022622	.	.	8.292e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs769488316	4.789e-06	4.788e-06	2.723e-06	6.877e-06	6.296e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.029	0.55341	D	0.838	0.46404	P	0.387	0.44046	B	0.093649	0.20213	N	0.436204	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.95	0.45222	N	0.272	0.36674	-1.0197	0.23812	T	0.056	0.23715	T	9	0.075301915	0.11620	T	0.018149	0.40116	T	0.084	0.24469	0.242	0.17524	0.0482279557977	0.04254	0.09668226034344464	0.09600	0.229919807998	0.25545	0.315304785967	0.12709	T	0.022467	0.20920	T	-0.146535	0.28854	T	-0.448264	0.27887	T	0.449584573507309	0.30782	T	0.518148	0.18126	T	0.04926464	0.08720	0.113196	0.27318	0.04926464	0.08720	0.113196	0.27317	-4.799	0.34580	T	.	.	0.104	0.36134	B	.;.;.;.;.	.;.;.;.;.	1.894917	0.24068	16.26	0.79256734813262431	0.12660	0.32736	0.24658	N	ALL	0.099712	0.20066	N	-0.891973013635847	0.11031	0.5302605	-0.980741171019176	0.10219	0.5132339	0.999999996360864	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.73	1.6	0.22686	0.487000	0.22064	1.638000	0.27776	-0.220000	0.07995	0.001000	0.13787	0.009000	0.19889	0.030000	0.13115	0.0:0.4989:0.3912:0.1099	5.766	0.17492	320	0.86992	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2337.43	37	chr9	128276715	.	C	A	2337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.131;DP=530;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.071;SOR=0.808	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1315	9	0	1	0
chr9	128355553	128355553	G	A	exonic	SLC27A4	.	nonsynonymous SNV	SLC27A4:NM_005094:exon11:c.G1618A:p.E540K	Ichthyosis prematurity syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.026416047563	.	.	8.345e-06	0	0	0	0	1.525e-05	0	0	1.29e-05	2	154602	rs763116146	2.674e-05	2.668e-05	2.456e-05	2.894e-05	3.327e-05	2.002e-05	1.758e-05	2.455e-05	2.143e-05	2.987e-05	0	0	0	0	0	3.327e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.37750	T	0.296	0.37037	T	0.98	0.59353	D	0.511	0.47948	P	0.000013	0.62929	D	0.147832	0.99992	0.51308	D	1.84	0.48285	L	0.35	0.58029	T	-2.23	0.54382	N	0.51	0.54147	-0.8125	0.54399	T	0.207	0.56540	T	10	0.4619516	0.59339	T	0.026416	0.49328	D	0.274	0.59007	0.498	0.58835	0.78399990157	0.78200	0.7435190826463951	0.74297	0.313050845058	0.33600	0.635478317738	0.57922	T	0.583128	0.86380	D	-0.185271	0.22955	T	-0.321759	0.42381	T	0.410659730434418	0.29343	T	0.751425	0.39577	T	0.19716111	0.41571	0.16522154	0.38233	0.19716111	0.41570	0.16522154	0.38233	-6.467	0.63951	T	0.21851829361622604	0.29428	0.228	0.46025	B	.;.	.;.	3.763970	0.54020	23.4	0.99757713911733836	0.84772	0.95991	0.67041	D	AEFBI	0.425826	0.49043	N	-0.0554528047586554	0.39358	2.319784	-0.120332769597341	0.34571	1.990121	0.999903495653307	0.45458	0.719381	0.83141	0	0.577304	0.33150	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.08	4.19	0.48645	2.380000	0.43982	3.506000	0.38809	-0.108000	0.15293	0.863000	0.30666	1.000000	0.68203	0.181000	0.21328	0.0784:0.0:0.9216:0.0	12.775	0.56817	329	0.86514	.;AMP-binding enzyme, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1856.43	37	chr9	128355553	.	G	A	1856.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.374;DP=472;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.965;SOR=0.72	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	9	0	1	0
chr9	128424270	128424270	C	G	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon4:c.C325G:p.Q109E,CERCAM:NM_016174:exon4:c.C559G:p.Q187E	.	385	1135	1	1	0	3	0.00131984	0.4775	0.506	.	2258432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0105516865121	0.0010	.	0.0006	9.671e-05	0	0	0	0.0010	0	0.0002	0.0005433	84	154602	rs146651928	0.0009	0.0009	0.0010	0.0009	0.0012	0.0009	0.0009	0.0011	0.0011	5.975e-05	0.0002	0	0	0.0002	0.0003	0.0012	0.0006	3.478e-05	0.0006	0.0006	0.0006	0.0005	0.0010	0.0005	0.0004	0.0008	0.0008	0.0002	0	0.0003	0	0	0	0	0.0010	0.0014	0	0.076	0.41637	T	0.248	0.64786	T	0.402	0.34891	B	0.109	0.31370	B	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.815	0.47718	L	2.02	0.21119	T	-1.44	0.51157	N	0.433	0.48689	-1.1006	0.04020	T	0.046	0.19760	T	10	0.07437676	0.11530	T	0.010552	0.27217	T	0.089	0.25827	.	.	0.322230723748	0.31824	0.870983006460846	0.87064	0.606290883428	0.55480	0.611343383789	0.54505	T	0.024644	0.19962	T	-0.419336	0.01727	T	-0.425564	0.30439	T	0.0394434779882431	0.03590	T	0.935806	0.81545	D	0.31747216	0.54425	0.29201812	0.55227	0.31747216	0.54425	0.29201812	0.55227	-5.34	0.40688	T	.	.	0.092	0.29833	B	.;.;.;.;.	.;.;.;.;.	4.348779	0.66783	25.0	0.98960996604583873	0.49324	0.97749	0.76855	D	AEFDBI	0.772623	0.70689	D	0.0265464202005674	0.43065	2.606803	0.117777208685695	0.45459	2.808624	0.999999642086983	0.74766	0.706548	0.73137	0	0.389834	0.06304	2	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	6.123000	0.71339	7.614000	0.62028	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:1.0:0.0:0.0	16.179	0.81704	390	0.83257	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1195.43	33	chr9	128424270	.	C	G	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.865;DP=496;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=0.598;SOR=0.806	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	9	0	1	0
chr9	128424479	128424479	C	A	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon5:c.C397A:p.P133T,CERCAM:NM_016174:exon5:c.C631A:p.P211T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	0.0528253497093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.96	0.85114	M	1.77	0.25841	T	-6.83	0.94620	D	0.972	0.98750	-0.6246	0.63798	T	0.203	0.56101	T	10	0.9210579	0.91460	D	0.052825	0.65225	D	0.722	0.90191	0.776	0.90157	0.66106210273	0.65822	0.9296258412690526	0.92940	0.619847239312	0.56322	0.748825073242	0.74273	T	0.352001	0.73298	T	0.274257	0.80818	D	0.156175	0.80571	D	0.995685696601868	0.87878	D	0.957504	0.87031	D	0.665218	0.76177	0.50294507	0.71267	0.665218	0.76179	0.50294507	0.71267	-10.921	0.79223	D	.	.	0.481	0.73725	A	.;.;.;.	.;.;.;.	4.661973	0.74425	26.2	0.99819178297687716	0.90238	0.99351	0.94882	D	AEFDGBI	0.922054	0.89645	D	0.849747274926762	0.89093	9.83228	0.785609722657256	0.88774	9.710728	0.999999999999549	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.667671	0.60360	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	7.897000	0.85944	7.613000	0.61989	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:1.0:0.0:0.0	16.817	0.85599	389	0.83303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2566.43	33	chr9	128424479	.	C	A	2566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.297;DP=565;ExcessHet=0;FS=4.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-0.77;SOR=0.987	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1138	9	0	1	0
chr9	128435744	128435744	G	A	exonic	CERCAM	.	nonsynonymous SNV	CERCAM:NM_001286760:exon12:c.G1393A:p.A465T,CERCAM:NM_016174:exon12:c.G1627A:p.A543T	.	.	.	.	.	.	.	.	.	.	.	4120463	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0170560436131	7.7e-05	.	2.628e-05	0	0	0	0	4.775e-05	0	0	1.94e-05	3	154602	rs143658564	1.574e-05	1.573e-05	1.77e-05	1.376e-05	0.0002	1.048e-05	8.76e-06	1.093e-05	8.81e-06	2.987e-05	0	0	0	0	0.0002	1.709e-05	1.656e-05	1.161e-05	6.572e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.371	0.11514	T	0.456	0.13441	T	0.002	0.09854	B	0.001	0.04355	B	0.077592	0.21094	N	0.505173	1	0.08975	N	0.28	0.10031	N	-1.07	0.77078	T	-0.33	0.15986	N	0.144	0.18103	-0.9599	0.39199	T	0.230	0.59521	T	10	0.05342284	0.05532	T	0.017056	0.38601	T	0.090	0.26093	.	.	0.279370189704	0.27548	0.3648732942267169	0.36401	0.121482305257	0.13691	0.425724923611	0.28624	T	0.002314	0.07741	T	-0.370522	0.03568	T	-0.589709	0.13690	T	0.0220412374000934	0.00914	T	0.717928	0.33070	T	0.019602522	0.00494	0.02758408	0.00922	0.019602522	0.00494	0.02758408	0.00922	-4.196	0.38819	T	.	.	0.071	0.05935	B	.;.;.	.;.;.	1.185197	0.15760	12.08	0.93003313730783077	0.22594	0.07931	0.13917	N	AEFDGBI	0.121041	0.23550	N	-0.961342010616181	0.09439	0.4467457	-0.994290979941743	0.09913	0.4959981	0.87329766931289	0.25463	0.732398	0.92422	0	0.670034	0.63936	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.07	-0.0721	0.13074	0.061000	0.14242	1.434000	0.26471	0.672000	0.70159	0.000000	0.06391	0.010000	0.20010	0.578000	0.30845	0.3517:0.0:0.3787:0.2695	3.649	0.07734	380	0.83728	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1172.43	33	chr9	128435744	.	G	A	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.191;DP=391;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.089;SOR=0.573	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr9	128471451	128471451	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G321C:p.E107D,ODF2:NM_001351581:exon5:c.G696C:p.E232D,ODF2:NM_001351587:exon5:c.G378C:p.E126D,ODF2:NM_001351588:exon5:c.G321C:p.E107D,ODF2:NM_153432:exon5:c.G696C:p.E232D,ODF2:NM_153436:exon5:c.G564C:p.E188D,ODF2:NM_153439:exon5:c.G639C:p.E213D,ODF2:NM_153440:exon5:c.G507C:p.E169D,ODF2:NM_001242352:exon6:c.G549C:p.E183D,ODF2:NM_001242353:exon6:c.G564C:p.E188D,ODF2:NM_001351577:exon6:c.G813C:p.E271D,ODF2:NM_001351578:exon6:c.G813C:p.E271D,ODF2:NM_001351579:exon6:c.G549C:p.E183D,ODF2:NM_001351583:exon6:c.G492C:p.E164D,ODF2:NM_001351584:exon6:c.G549C:p.E183D,ODF2:NM_001351586:exon6:c.G492C:p.E164D,ODF2:NM_153433:exon6:c.G564C:p.E188D,ODF2:NM_153435:exon6:c.G756C:p.E252D,ODF2:NM_153437:exon6:c.G507C:p.E169D,ODF2:NM_001351580:exon7:c.G549C:p.E183D,ODF2:NM_001351582:exon7:c.G681C:p.E227D,ODF2:NM_001351585:exon7:c.G549C:p.E183D,ODF2:NM_002540:exon8:c.G492C:p.E164D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0166346059729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.28900	T	0.139	0.48080	T	0.226	0.44333	B	0.103	0.36167	B	0.000008	0.62929	D	0.143248	0.901159	0.81001	D	1.575	0.39704	L	1.02	0.40749	T	-0.91	0.32185	N	0.579	0.61511	-1.1024	0.03813	T	0.068	0.27743	T	10	0.1288071	0.24505	T	0.016635	0.37992	T	0.094	0.27141	0.121	0.02793	0.401042353794	0.39719	0.12333671724372855	0.12259	0.502098271632	0.48579	0.731422185898	0.71714	T	0.213179	0.57442	T	-0.117402	0.33549	T	-0.406416	0.32640	T	0.383795946836472	0.28328	T	0.927907	0.73422	D	0.06773043	0.14695	0.0892156	0.20851	0.06773043	0.14695	0.0892156	0.20850	-4.915	0.36764	T	.	.	0.248	0.48397	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.656305	0.34597	19.67	0.99272225022966964	0.57593	0.76153	0.37328	D	AEFDGBI	0.205794	0.33212	N	-0.194956062371926	0.33343	1.890656	-0.0827227240559959	0.36103	2.096917	0.989390783988164	0.31812	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	2.92	0.32998	0.653000	0.24588	2.984000	0.35852	-0.216000	0.08207	1.000000	0.71638	1.000000	0.68203	0.825000	0.38878	0.3786:0.0:0.6214:0.0	8.115	0.30098	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	169.73	38	chr9	128471451	.	G	C	169.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.93;DP=518;ExcessHet=0;FS=47.041;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=2.75;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1092:.	7	0	1	2
chr9	128471452	128471452	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G322C:p.E108Q,ODF2:NM_001351581:exon5:c.G697C:p.E233Q,ODF2:NM_001351587:exon5:c.G379C:p.E127Q,ODF2:NM_001351588:exon5:c.G322C:p.E108Q,ODF2:NM_153432:exon5:c.G697C:p.E233Q,ODF2:NM_153436:exon5:c.G565C:p.E189Q,ODF2:NM_153439:exon5:c.G640C:p.E214Q,ODF2:NM_153440:exon5:c.G508C:p.E170Q,ODF2:NM_001242352:exon6:c.G550C:p.E184Q,ODF2:NM_001242353:exon6:c.G565C:p.E189Q,ODF2:NM_001351577:exon6:c.G814C:p.E272Q,ODF2:NM_001351578:exon6:c.G814C:p.E272Q,ODF2:NM_001351579:exon6:c.G550C:p.E184Q,ODF2:NM_001351583:exon6:c.G493C:p.E165Q,ODF2:NM_001351584:exon6:c.G550C:p.E184Q,ODF2:NM_001351586:exon6:c.G493C:p.E165Q,ODF2:NM_153433:exon6:c.G565C:p.E189Q,ODF2:NM_153435:exon6:c.G757C:p.E253Q,ODF2:NM_153437:exon6:c.G508C:p.E170Q,ODF2:NM_001351580:exon7:c.G550C:p.E184Q,ODF2:NM_001351582:exon7:c.G682C:p.E228Q,ODF2:NM_001351585:exon7:c.G550C:p.E184Q,ODF2:NM_002540:exon8:c.G493C:p.E165Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0230031762802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.91255	T	0.031	0.60337	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.045985	0.999935	0.81001	D	2.095	0.58118	M	0.97	0.42502	T	-1.92	0.47008	N	0.638	0.73465	-0.7974	0.55298	T	0.238	0.60499	T	10	0.32650283	0.49946	T	0.023003	0.45934	T	0.192	0.47115	0.12	0.02719	0.616667881983	0.61357	0.3266749509537722	0.32580	1.23280134682	0.81395	0.741498470306	0.73194	T	0.343793	0.71239	T	-0.0112261	0.50094	T	-0.253902	0.49432	T	0.868653256777238	0.51861	D	0.971703	0.89869	D	0.24482176	0.47435	0.27271095	0.53184	0.24482176	0.47435	0.27271095	0.53183	-6.05	0.48349	T	.	.	0.381	0.59677	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.723906	0.76021	26.4	0.99785871404756998	0.87219	0.95343	0.64351	D	AEFDGBI	0.704226	0.66001	D	0.710562824417323	0.80326	7.269384	0.719590889231748	0.83868	8.135616	0.999999990881799	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	6.626000	0.74117	11.752000	0.95431	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.0:1.0:0.0	18.514	0.90880	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	169.73	38	chr9	128471452	.	G	C	169.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.718;DP=521;ExcessHet=0;FS=47.041;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=2.68;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1092:.	7	0	1	2
chr9	128471454	128471454	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G324C:p.E108D,ODF2:NM_001351581:exon5:c.G699C:p.E233D,ODF2:NM_001351587:exon5:c.G381C:p.E127D,ODF2:NM_001351588:exon5:c.G324C:p.E108D,ODF2:NM_153432:exon5:c.G699C:p.E233D,ODF2:NM_153436:exon5:c.G567C:p.E189D,ODF2:NM_153439:exon5:c.G642C:p.E214D,ODF2:NM_153440:exon5:c.G510C:p.E170D,ODF2:NM_001242352:exon6:c.G552C:p.E184D,ODF2:NM_001242353:exon6:c.G567C:p.E189D,ODF2:NM_001351577:exon6:c.G816C:p.E272D,ODF2:NM_001351578:exon6:c.G816C:p.E272D,ODF2:NM_001351579:exon6:c.G552C:p.E184D,ODF2:NM_001351583:exon6:c.G495C:p.E165D,ODF2:NM_001351584:exon6:c.G552C:p.E184D,ODF2:NM_001351586:exon6:c.G495C:p.E165D,ODF2:NM_153433:exon6:c.G567C:p.E189D,ODF2:NM_153435:exon6:c.G759C:p.E253D,ODF2:NM_153437:exon6:c.G510C:p.E170D,ODF2:NM_001351580:exon7:c.G552C:p.E184D,ODF2:NM_001351582:exon7:c.G684C:p.E228D,ODF2:NM_001351585:exon7:c.G552C:p.E184D,ODF2:NM_002540:exon8:c.G495C:p.E165D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0233334582555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.91255	D	0.056	0.52727	T	0.947	0.53479	P	0.58	0.56524	P	0.000000	0.84330	D	0.045985	0.987477	0.81001	D	1.745	0.45235	L	1.01	0.41058	T	-1.61	0.52776	N	0.572	0.65159	-1.0311	0.20099	T	0.130	0.43989	T	10	0.22031954	0.38726	T	0.023333	0.46285	T	0.168	0.42943	0.088	0.00943	0.463758542814	0.46003	0.23630502984554985	0.23545	1.0971431111	0.77615	0.749033868313	0.74304	T	0.219152	0.58208	T	-0.0509196	0.44307	T	-0.310919	0.43559	T	0.798595607280731	0.46258	D	0.959604	0.84924	D	0.23264228	0.46055	0.22669865	0.47656	0.23264228	0.46055	0.22669865	0.47655	-4.984	0.37218	T	.	.	0.268	0.51445	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.735369	0.35818	20.0	0.99757545569604689	0.84772	0.83147	0.42289	D	AEFDGBI	0.245836	0.36670	N	0.0983866176571002	0.46386	2.879856	0.117416914727211	0.45440	2.807099	0.984940412026	0.30801	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.57	2.36	0.28258	2.334000	0.43579	2.891000	0.35390	-0.201000	0.08892	1.000000	0.71638	1.000000	0.68203	0.782000	0.36987	0.3051:0.0:0.6949:0.0	9.439	0.37821	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	171.44	38	chr9	128471454	.	G	C	171.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.654;DP=550;ExcessHet=0;FS=50.815;InbreedingCoeff=-0.0536;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=2.51;SOR=5.547	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1092:.	9	0	1	0
chr9	128471457	128471457	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G327C:p.K109N,ODF2:NM_001351581:exon5:c.G702C:p.K234N,ODF2:NM_001351587:exon5:c.G384C:p.K128N,ODF2:NM_001351588:exon5:c.G327C:p.K109N,ODF2:NM_153432:exon5:c.G702C:p.K234N,ODF2:NM_153436:exon5:c.G570C:p.K190N,ODF2:NM_153439:exon5:c.G645C:p.K215N,ODF2:NM_153440:exon5:c.G513C:p.K171N,ODF2:NM_001242352:exon6:c.G555C:p.K185N,ODF2:NM_001242353:exon6:c.G570C:p.K190N,ODF2:NM_001351577:exon6:c.G819C:p.K273N,ODF2:NM_001351578:exon6:c.G819C:p.K273N,ODF2:NM_001351579:exon6:c.G555C:p.K185N,ODF2:NM_001351583:exon6:c.G498C:p.K166N,ODF2:NM_001351584:exon6:c.G555C:p.K185N,ODF2:NM_001351586:exon6:c.G498C:p.K166N,ODF2:NM_153433:exon6:c.G570C:p.K190N,ODF2:NM_153435:exon6:c.G762C:p.K254N,ODF2:NM_153437:exon6:c.G513C:p.K171N,ODF2:NM_001351580:exon7:c.G555C:p.K185N,ODF2:NM_001351582:exon7:c.G687C:p.K229N,ODF2:NM_001351585:exon7:c.G555C:p.K185N,ODF2:NM_002540:exon8:c.G498C:p.K166N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0167309592781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.803e-06	0.0002	2.731e-06	6.895e-06	6.002e-05	2e-06	1.28e-06	9.94e-06	3.72e-06	6.002e-05	0	0	0	0	0	3.608e-06	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.28395	T	0.171	0.67890	T	0.115	0.35330	B	0.03	0.26820	B	0.000027	0.55875	D	0.155966	0.986513	0.81001	D	1.24	0.30952	L	0.93	0.44065	T	-1.13	0.41239	N	0.631	0.66443	-1.0823	0.06908	T	0.071	0.28936	T	10	0.16474134	0.30812	T	0.016731	0.38123	T	0.040	0.10527	0.427	0.47350	0.641141256235	0.63818	0.22022778778274033	0.21938	0.516649995381	0.49549	0.776209056377	0.78356	T	0.195828	0.55203	T	-0.140142	0.29869	T	-0.439081	0.28912	T	0.510702610015869	0.33023	D	0.920508	0.71260	D	0.10514248	0.24859	0.112948	0.27256	0.10514248	0.24858	0.112948	0.27255	-4.839	0.35202	T	.	.	0.677	0.74532	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	2.289654	0.29282	18.07	0.99115970012995813	0.52854	0.84272	0.43354	D	AEFDGBI	0.231935	0.35509	N	-0.20543102583687	0.32910	1.861282	-0.0511924639671241	0.37439	2.192077	0.999662616212298	0.41534	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	4.86	0.62624	2.236000	0.42700	3.029000	0.36034	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1531:0.0:0.8469:0.0	10.899	0.46252	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	182.53	70	chr9	128471457	.	G	C	182.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.97;DP=541;ExcessHet=0;FS=45.491;InbreedingCoeff=-0.143;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=2.33;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:42,0:42:0:.:.:0,0,847:.	6	0	1	3
chr9	128471458	128471458	G	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.G328C:p.D110H,ODF2:NM_001351581:exon5:c.G703C:p.D235H,ODF2:NM_001351587:exon5:c.G385C:p.D129H,ODF2:NM_001351588:exon5:c.G328C:p.D110H,ODF2:NM_153432:exon5:c.G703C:p.D235H,ODF2:NM_153436:exon5:c.G571C:p.D191H,ODF2:NM_153439:exon5:c.G646C:p.D216H,ODF2:NM_153440:exon5:c.G514C:p.D172H,ODF2:NM_001242352:exon6:c.G556C:p.D186H,ODF2:NM_001242353:exon6:c.G571C:p.D191H,ODF2:NM_001351577:exon6:c.G820C:p.D274H,ODF2:NM_001351578:exon6:c.G820C:p.D274H,ODF2:NM_001351579:exon6:c.G556C:p.D186H,ODF2:NM_001351583:exon6:c.G499C:p.D167H,ODF2:NM_001351584:exon6:c.G556C:p.D186H,ODF2:NM_001351586:exon6:c.G499C:p.D167H,ODF2:NM_153433:exon6:c.G571C:p.D191H,ODF2:NM_153435:exon6:c.G763C:p.D255H,ODF2:NM_153437:exon6:c.G514C:p.D172H,ODF2:NM_001351580:exon7:c.G556C:p.D186H,ODF2:NM_001351582:exon7:c.G688C:p.D230H,ODF2:NM_001351585:exon7:c.G556C:p.D186H,ODF2:NM_002540:exon8:c.G499C:p.D167H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0242294585437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.501e-06	0.0002	5.475e-06	5.527e-06	3.006e-05	2.37e-06	1.71e-06	2.63e-06	1.69e-06	3.006e-05	0	0	0	0	0	6.331e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.68238	D	0.016	0.70582	D	1.0	0.90584	D	0.986	0.76916	D	0.000044	0.53742	D	0.191960	0.999801	0.81001	D	1.7	0.43825	L	0.87	0.46412	T	-1.36	0.61129	N	0.344	0.42443	-0.8397	0.52666	T	0.225	0.58881	T	10	0.30612516	0.48125	T	0.024229	0.47216	T	0.168	0.42943	0.462	0.53079	0.762248554271	0.76008	0.45467430635919104	0.45385	0.641388026801	0.57735	0.739772558212	0.72940	T	0.32598	0.69665	T	2.67742e-05	0.51657	T	-0.237738	0.51019	T	0.713379740715027	0.41366	D	0.971303	0.90384	D	0.10107114	0.23872	0.16460241	0.38122	0.10107114	0.23871	0.16460241	0.38121	-5.77	0.45707	T	.	.	0.610	0.72778	P	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	4.659415	0.74356	26.1	0.99474712445572377	0.66525	0.95343	0.64351	D	AEFDGBI	0.677414	0.64212	D	0.641967477441165	0.75848	6.379389	0.63928169438349	0.77817	6.752567	0.999999990881799	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	4.944000	0.63262	11.752000	0.95431	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.686000	0.33718	0.0:0.0:1.0:0.0	18.514	0.90880	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	177.43	39	chr9	128471458	.	G	C	177.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.184;DP=474;ExcessHet=0;FS=44.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=2.3;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr9	128471461	128471461	T	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.T331C:p.F111L,ODF2:NM_001351581:exon5:c.T706C:p.F236L,ODF2:NM_001351587:exon5:c.T388C:p.F130L,ODF2:NM_001351588:exon5:c.T331C:p.F111L,ODF2:NM_153432:exon5:c.T706C:p.F236L,ODF2:NM_153436:exon5:c.T574C:p.F192L,ODF2:NM_153439:exon5:c.T649C:p.F217L,ODF2:NM_153440:exon5:c.T517C:p.F173L,ODF2:NM_001242352:exon6:c.T559C:p.F187L,ODF2:NM_001242353:exon6:c.T574C:p.F192L,ODF2:NM_001351577:exon6:c.T823C:p.F275L,ODF2:NM_001351578:exon6:c.T823C:p.F275L,ODF2:NM_001351579:exon6:c.T559C:p.F187L,ODF2:NM_001351583:exon6:c.T502C:p.F168L,ODF2:NM_001351584:exon6:c.T559C:p.F187L,ODF2:NM_001351586:exon6:c.T502C:p.F168L,ODF2:NM_153433:exon6:c.T574C:p.F192L,ODF2:NM_153435:exon6:c.T766C:p.F256L,ODF2:NM_153437:exon6:c.T517C:p.F173L,ODF2:NM_001351580:exon7:c.T559C:p.F187L,ODF2:NM_001351582:exon7:c.T691C:p.F231L,ODF2:NM_001351585:exon7:c.T559C:p.F187L,ODF2:NM_002540:exon8:c.T502C:p.F168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00351134207786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.157e-06	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.568	0.09128	T	0.814	0.05747	T	0.001	0.07471	B	0.001	0.04355	B	0.528505	0.11664	N	0.817357	1	0.08975	N	-0.84	0.01504	N	0.98	0.42122	T	0.31	0.12661	N	0.145	0.19728	-1.0137	0.25752	T	0.046	0.19720	T	10	0.048041523	0.04201	T	0.003511	0.07969	T	0.030	0.07022	0.219	0.14078	0.277317399466	0.27352	0.06315480408183377	0.06254	0.477435573675	0.46858	0.641730904579	0.58811	T	0.055381	0.29991	T	-0.226563	0.17105	T	-0.563219	0.16076	T	0.0153747806325555	0.00343	T	0.824917	0.48720	T	0.046132233	0.07671	0.040154662	0.04276	0.046132233	0.07670	0.040154662	0.04276	-2.129	0.04199	T	.	.	0.404	0.65194	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.625186	0.20752	14.89	0.74901446670973149	0.10870	0.23441	0.22077	N	AEFDGBI	0.074471	0.14928	N	-0.81960896987103	0.12810	0.6268263	-0.718259045074697	0.16506	0.8735139	0.982019283789759	0.30340	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	2.06	0.25932	2.008000	0.40513	4.187000	0.42377	0.577000	0.29297	0.843000	0.30332	1.000000	0.68203	0.461000	0.28141	0.1341:0.2242:0.0:0.6417	4.559	0.11548	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	183.43	39	chr9	128471461	.	T	C	183.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.153;DP=474;ExcessHet=0;FS=44.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=2.03;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr9	128471462	128471462	T	C	exonic	ODF2	.	nonsynonymous SNV	ODF2:NM_001242354:exon5:c.T332C:p.F111S,ODF2:NM_001351581:exon5:c.T707C:p.F236S,ODF2:NM_001351587:exon5:c.T389C:p.F130S,ODF2:NM_001351588:exon5:c.T332C:p.F111S,ODF2:NM_153432:exon5:c.T707C:p.F236S,ODF2:NM_153436:exon5:c.T575C:p.F192S,ODF2:NM_153439:exon5:c.T650C:p.F217S,ODF2:NM_153440:exon5:c.T518C:p.F173S,ODF2:NM_001242352:exon6:c.T560C:p.F187S,ODF2:NM_001242353:exon6:c.T575C:p.F192S,ODF2:NM_001351577:exon6:c.T824C:p.F275S,ODF2:NM_001351578:exon6:c.T824C:p.F275S,ODF2:NM_001351579:exon6:c.T560C:p.F187S,ODF2:NM_001351583:exon6:c.T503C:p.F168S,ODF2:NM_001351584:exon6:c.T560C:p.F187S,ODF2:NM_001351586:exon6:c.T503C:p.F168S,ODF2:NM_153433:exon6:c.T575C:p.F192S,ODF2:NM_153435:exon6:c.T767C:p.F256S,ODF2:NM_153437:exon6:c.T518C:p.F173S,ODF2:NM_001351580:exon7:c.T560C:p.F187S,ODF2:NM_001351582:exon7:c.T692C:p.F231S,ODF2:NM_001351585:exon7:c.T560C:p.F187S,ODF2:NM_002540:exon8:c.T503C:p.F168S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00868394040172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.43085	T	0.402	0.59732	T	0.037	0.37095	B	0.029	0.30674	B	0.528505	0.11664	N	0.817357	1	0.08975	N	0.55	0.14455	N	0.98	0.42122	T	-1.02	0.37759	N	0.393	0.49237	-1.0348	0.18920	T	0.057	0.23828	T	10	0.048764348	0.04372	T	0.008684	0.22927	T	0.098	0.28162	0.269	0.21735	0.322230723748	0.31824	0.22923499452312188	0.22838	0.737364546988	0.63054	0.613394737244	0.54796	T	0.153986	0.49507	T	-0.197851	0.21114	T	-0.521976	0.20094	T	0.102360391826658	0.12615	T	0.915608	0.70013	D	0.09602146	0.22609	0.11241231	0.27124	0.09602146	0.22609	0.11241231	0.27123	-1.473	0.01854	T	.	.	0.360	0.63679	A	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.687439	0.10558	7.269	0.68009979535922627	0.08527	0.11537	0.16699	N	AEFDGBI	0.078621	0.15866	N	-1.84555714039798	0.00443	0.01905359	-1.86605650147063	0.00570	0.02529639	0.999674649997793	0.41644	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.76	-6.03	0.02001	0.352000	0.19851	0.348000	0.17448	-1.125000	0.01466	0.335000	0.25632	0.122000	0.22912	0.389000	0.26536	0.6232:0.0:0.0:0.3767	14.930	0.70556	478	0.77585	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	189.43	39	chr9	128471462	.	T	C	189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.452;DP=480;ExcessHet=0;FS=43.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=1.87;SOR=5.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr9	128634748	128634748	C	G	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1155C:p.Q385H	.	.	.	.	.	.	.	.	.	.	.	2111050	Inborn_genetic_diseases|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.0648282193291	0.0002	.	0.0002	0	0	0	0	0.0004	0	0	8.41e-05	13	154602	rs138263531	4.344e-05	4.378e-05	3.974e-05	4.72e-05	0.0003	3.47e-05	3.154e-05	6.115e-05	2.53e-05	0	9.383e-05	0.0015	0	0	0.0003	7.227e-06	0.0002	0	5.911e-05	5.91e-05	3.853e-05	8.066e-05	0.0001	3.076e-05	2.209e-05	2.26e-05	9.07e-06	0	0	0.0001	0.0020	0	0	0	0	0	0	0.044	0.41096	D	0.12	0.35970	T	0.848	0.46844	P	0.722	0.54942	P	0.033298	0.24917	N	0.435352	0.800986	0.34511	D	0.895	0.22405	L	-0.12	0.64630	T	-1.64	0.39314	N	0.444	0.48227	-0.6431	0.63013	T	0.200	0.55541	T	10	0.07377285	0.11190	T	0.064828	0.69397	D	0.123	0.34020	0.434	0.48500	0.575045364607	0.57173	0.3960049347675737	0.39515	0.312824787372	0.33584	0.340353131294	0.16491	T	0.052151	0.29079	T	-0.223371	0.17535	T	-0.377723	0.35988	T	0.0878588128712742	0.10962	T	0.854315	0.54093	D	0.1550096	0.35054	0.110810064	0.26722	0.1550096	0.35054	0.110810064	0.26721	-6.43	0.49744	T	.	.	0.204	0.42920	B	.	.	2.648445	0.34475	19.64	0.99569685253584017	0.72318	0.63718	0.32177	D	AEFDGBCI	0.248822	0.36916	N	0.0595895887776379	0.44585	2.729837	0.0612501213379191	0.42620	2.580985	0.999999918663517	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	3.34	0.37357	0.532000	0.22776	-0.067000	0.12346	0.524000	0.24156	0.998000	0.41325	0.570000	0.25566	0.787000	0.37188	0.0:0.7294:0.1296:0.141	8.416	0.31831	398	0.82839	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1417.43	34	chr9	128634748	.	C	G	1417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.14;DP=425;ExcessHet=0;FS=3.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.21;SOR=1.022	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.05	2402.43	34	chr9	128634837	.	C	T	2402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.012;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-1.132;SOR=0.714	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr9	128656662	128656662	G	A	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon1:c.C65T:p.A22V	.	431	1074	17	0	0	17	0.00785219	.	.	YES	919188	DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|not_provided|See_cases	.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.256	.	0.0039	0.00139776	0.0147	0	0.0172	0	0.0048	0.0333	0.0167	0.0051	0.0026455	409	154602	rs201715229	0.0032	0.0032	0.0031	0.0033	0.0137	0.0031	0.0031	0.0110	0.0100	0.0005	0.0027	0.0215	0	0.0008	0.0137	0.0030	0.0047	0.0031	0.0026	0.0026	0.0026	0.0026	0.0039	0.0024	0.0023	0.0031	0.0028	0.0005	0.0044	0.0039	0.0228	0	0.0006	0.0068	0.0031	0.0019	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.969	0.60036	D	0.304	0.50647	B	0.063802	0.21998	N	0.327042	0.949009	0.26551	N	1.04	0.26193	L	-0.99	0.75911	T	-0.85	0.24026	N	0.257	0.29081	-0.6570	0.62408	T	0.264	0.63469	T	10	0.0067727864	0.00154	T	.	.	.	0.256	0.56694	.	.	0.762820204418	0.76066	0.345762334584744	0.34490	0.50621119283	0.48837	0.814750313759	0.84221	D	0.033738	0.23038	T	-0.331137	0.06026	T	-0.247478	0.50065	T	0.0607750055070488	0.07290	T	0.578142	0.20837	T	0.175322	0.38385	0.3908777	0.63872	0.19349916	0.41062	0.39782614	0.64387	-4.447	0.30189	T	.	.	0.202	0.48561	B	.;.;.	.;.;.	3.824749	0.55248	23.6	0.99313947490755272	0.59129	0.11453	0.16644	N	ALL	0.149779	0.27394	N	0.133431610482081	0.48027	3.020442	0.0530551527143404	0.42220	2.549916	0.999999999999788	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.74	2.83	0.32150	1.687000	0.37298	8.784000	0.78249	0.640000	0.52149	0.924000	0.32081	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.7737:0.2263	8.695	0.33453	0	0.99858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016940	0.005319	0.021978	0.008876	0.100000	0.053571	0.009554	0.003788	0.05	875.43	37	chr9	128656662	.	G	A	875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.188;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,890	9	0	1	0
chr9	128690000	128690000	C	G	exonic	SET	.	nonsynonymous SNV	SET:NM_001248001:exon1:c.C14G:p.S5C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.503369034182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.669e-05	1.368e-05	1.486e-05	1.871e-05	1.89e-05	1.002e-05	7.94e-06	1.135e-05	9e-06	0	0	0	0	0	0	1.89e-05	0	0	1.396e-05	1.337e-05	2.718e-05	0	1.547e-05	2.32e-06	8.7e-07	.	.	0	0	0	0	0	0	0	1.547e-05	0.0005	0	0.02	0.49613	D	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.49	0.32238	T	-2.22	0.52128	N	0.112	0.09914	-1.0367	0.18326	T	0.089	0.34408	T	8	0.17953798	0.33093	T	0.503369	0.95188	D	0.067	0.19503	0.207	0.12356	0.245697971988	0.24196	.	.	.	.	.	.	.	.	.	.	-0.30422	0.08267	T	-0.674768	0.07306	T	0.311082556254592	0.25459	T	0.358764	0.08314	T	.	.	.	.	.	.	.	.	-6.149	0.47509	T	.	.	0.125	0.26325	B	.;.	.;.	2.800282	0.36834	20.3	0.92974269038268254	0.22554	0.00791	0.03234	N	AEFDBHCIJ	0.053269	0.09583	N	-0.236935002845989	0.31629	1.775398	-0.394646061276502	0.25156	1.381737	0.999999999721326	0.74766	0.495885	0.18260	0	0.218748	0.04544	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	1.66	0.426	0.15694	0.225000	0.17538	3.900000	0.40345	0.353000	0.19991	0.956000	0.33378	1.000000	0.68203	0.995000	0.73285	0.3846:0.6154:0.0:0.0	4.417	0.10888	0	0.99858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	419.43	31	chr9	128690000	.	C	G	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.423;DP=341;ExcessHet=0;FS=2.864;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.243;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,892	9	0	1	0
chr9	128706759	128706759	A	C	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon4:c.A458C:p.Q153P,PKN3:NM_013355:exon4:c.A458C:p.Q153P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0135725579065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	0.891	0.49025	P	0.673	0.53214	P	.	.	.	.	0.792295	0.34402	D	0.895	0.22405	L	2.19	0.18724	T	-2.41	0.52938	N	0.419	0.45898	-1.0159	0.25045	T	0.055	0.23300	T	9	0.3619907	0.52805	T	0.013573	0.33074	T	0.113	0.31778	0.585	0.71245	0.17258766438	0.16869	0.5614202734360078	0.56069	0.967287473485	0.73234	0.447571367025	0.31612	T	0.272011	0.64438	T	-0.135355	0.30633	T	-0.432204	0.29685	T	0.77026107640442	0.44455	D	0.808919	0.45897	T	0.4750703	0.65600	0.6576855	0.79952	0.4750703	0.65601	0.6576855	0.79953	-14.723	0.95170	D	.	.	0.536	0.66164	A	.	.	4.217201	0.63755	24.6	0.99428881297948146	0.64179	0.97385	0.74413	D	AEFGBI	0.555453	0.56589	D	0.211196379061069	0.51741	3.353014	0.231786074489862	0.51619	3.342927	0.999990038459523	0.74766	0.706548	0.73137	0	0.550933	0.16991	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.08	3.94	0.44807	2.249000	0.42821	7.970000	0.76035	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8235:0.0:0.1765:0.0	7.207	0.25089	0	0.99858	HR1 rho-binding domain|HR1 rho-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	891.43	68	chr9	128706759	.	A	C	891.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.69;DP=395;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.73;SOR=0.461	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1113	9	0	1	0
chr9	128721783	128721783	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon4:c.G515A:p.R172H,ZDHHC12:NM_001318016:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318020:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318023:exon4:c.G347A:p.R116H,ZDHHC12:NM_032799:exon4:c.G350A:p.R117H	.	430	1090	2	0	0	2	0.00091659	.	.	.	2239316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00423443741375	0.0004	.	0.0004	9.756e-05	0.0003	0	0	0.0007	0.0011	0	0.0004075	63	154602	rs146354591	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	8.961e-05	0.0003	0.0038	5.038e-05	0	0.0019	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0007	0.0029	0	0	0.0068	0.0002	0.0014	0	0.125	0.36509	T	0.141	0.41913	T	0.109	0.26142	B	0.015	0.17295	B	0.044823	0.23598	N	0.453294	0.790549	0.29231	N	1.52	0.38360	L	1.92	0.23082	T	-1.04	0.34198	N	0.246	0.33796	-1.0684	0.09768	T	0.040	0.17319	T	10	0.014626592	0.00307	T	0.004234	0.10216	T	0.053	0.14996	.	.	0.0762999501168	0.06990	0.42142061826271077	0.42058	0.22138815959	0.24677	0.475829809904	0.35483	T	0.005444	0.17609	T	-0.412673	0.01908	T	-0.50661	0.21663	T	0.0419776805748135	0.04050	T	0.931907	0.74605	D	0.09354279	0.21973	0.05158233	0.08329	0.09354279	0.21973	0.05158233	0.08328	-5.389	0.40813	T	.	.	0.087	0.17657	B	.;.;.;.	.;.;.;.	3.103176	0.41828	21.4	0.99937510461061574	0.99661	0.45492	0.27550	N	AEFDBCI	0.272692	0.38827	N	-0.153428428469622	0.35087	2.01107	-0.0275884260023746	0.38475	2.267224	0.99999996385771	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.74	0.42108	0.800000	0.26703	2.478000	0.32927	0.599000	0.40250	0.507000	0.27010	0.990000	0.31317	0.995000	0.73285	0.0:0.7029:0.0:0.2971	4.263	0.10201	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	647.43	38	chr9	128721783	.	C	T	647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.458;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.925;SOR=0.735	GT:AD:DP:GQ:PL	0/1:22,27:49:99:659,0,513	9	0	1	0
chr9	128792561	128792561	G	A	exonic	TBC1D13	.	nonsynonymous SNV	TBC1D13:NM_001286772:exon6:c.G370A:p.D124N,TBC1D13:NM_018201:exon6:c.G370A:p.D124N	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0189618039206	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs148490755	0.0001	0.0001	9.938e-05	0.0001	0.0019	9.092e-05	8.599e-05	0.0011	0.0008	0	0	3.827e-05	0	0	0.0019	0.0001	8.28e-05	3.479e-05	5.256e-05	5.253e-05	6.422e-05	4.035e-05	0.0001	2.557e-05	1.83e-05	5.841e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.139	0.32610	T	0.141	0.37730	T	0.975	0.67487	D	0.691	0.68276	P	0.000006	0.62929	D	0.105878	1	0.81001	D	1.855	0.49169	L	3.55	0.04746	T	-3.94	0.73378	D	0.611	0.64393	-1.0141	0.25625	T	0.033	0.13986	T	10	0.46248522	0.59370	T	0.018962	0.41188	T	0.259	0.57090	.	.	0.525901189516	0.52236	0.67083721527319	0.67021	1.49269912333	0.86905	0.825783371925	0.85916	D	0.210932	0.57156	T	-0.329069	0.06182	T	-0.473793	0.25110	T	0.657600879669189	0.38790	D	0.940106	0.84976	D	0.3585236	0.57723	0.28389445	0.54385	0.3585236	0.57723	0.28389445	0.54384	-11.469	0.82168	D	.	.	0.810	0.79245	P	.;.	.;.	5.680525	0.92996	33	0.99933476637191954	0.99488	0.99634	0.98193	D	AEFGBI	0.888410	0.82150	D	0.591472173110278	0.72644	5.837971	0.622593676124259	0.76585	6.518066	0.999999999990058	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	10.003000	0.99689	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.775	0.85409	776	0.48302	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	1646.43	34	chr9	128792561	.	G	A	1646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.109;DP=444;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.132;SOR=0.894	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr9	128909319	128909319	C	T	exonic	LRRC8A	.	nonsynonymous SNV	LRRC8A:NM_001127245:exon2:c.C2155T:p.R719W,LRRC8A:NM_001127244:exon3:c.C2155T:p.R719W,LRRC8A:NM_019594:exon3:c.C2155T:p.R719W	.	.	.	.	.	.	.	.	0.7127	0.524	.	1399789	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.391	0.0754550250889	0.0002	0.000399361	0.0002	0.0013	0	0.0003	0	0	0	0.0001	0.0001294	20	154602	rs145027705	3.22e-05	3.283e-05	3.272e-05	3.167e-05	0.0009	2.481e-05	2.224e-05	0.0006	0.0005	0.0009	0	0	0.0002	0	0	4.498e-06	1.657e-05	6.957e-05	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0010	0.0009	0.0013	0	0.0001	0	0.0002	0	0	1.47e-05	0	0	0.011	0.55530	D	0.058	0.46182	T	0.996	0.68779	D	0.636	0.51948	P	0.000000	0.84330	D	0.051141	0.999849	0.49770	D	2.37	0.68279	M	0.18	0.60361	T	-3.31	0.65972	D	0.779	0.77601	-0.3893	0.72364	T	0.291	0.66297	T	10	0.274602	0.45014	T	0.075455	0.72291	D	0.391	0.70684	.	.	0.41960043425	0.41580	0.6977303792848608	0.69714	1.57236916457	0.88220	0.748727202415	0.74259	T	0.246591	0.61609	T	-0.165672	0.25891	T	-0.0461307	0.67286	D	0.164043776656266	0.18165	T	0.974203	0.90777	D	0.49952117	0.67067	0.22675431	0.47663	0.49952117	0.67068	0.22675431	0.47662	-8.96	0.67439	D	.	.	0.451	0.62786	A	.;.;.	.;.;.	4.569649	0.72080	25.8	0.99916813616970823	0.98449	0.97348	0.74182	D	AEFDGBI	0.789717	0.71883	D	0.481745210501378	0.66024	4.896967	0.455517555192841	0.65073	4.777708	0.999999587714347	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.67	4.75	0.59954	1.972000	0.40163	3.096000	0.36300	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.983000	0.59808	0.3141:0.6859:0.0:0.0	13.221	0.59313	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	825.43	40	chr9	128909319	.	C	T	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.792;SOR=0.854	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr9	128999742	128999742	G	T	exonic	NUP188	.	nonsynonymous SNV	NUP188:NM_015354:exon34:c.G3780T:p.E1260D	.	425	1062	31	4	0	39	0.0180305	.	.	.	1687699	not_provided|NUP188-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0037	0.00459265	0.0053	0.0010	0.0041	0	0.0002	0.0053	0.0077	0.0136	0.0051487	796	154602	rs147959429	0.0057	0.0057	0.0054	0.0060	0.0146	0.0056	0.0055	0.0139	0.0137	0.0011	0.0049	0.0052	7.557e-05	0.0006	0.0132	0.0055	0.0068	0.0146	0.0043	0.0043	0.0042	0.0045	0.0126	0.0041	0.0039	0.0101	0.0092	0.0010	0.0011	0.0104	0.0049	0.0002	0.0005	0.0238	0.0051	0.0099	0.0126	0.1	0.30515	T	0.13	0.34716	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049497	0.999938	0.51612	D	1.21	0.30464	L	1.3	0.35590	T	-1.39	0.34397	N	0.219	0.24510	-1.0873	0.05995	T	0.047	0.20037	T	10	0.0067179203	0.00152	T	.	.	.	0.054	0.15330	0.288	0.24761	0.138757226776	0.13463	0.1281385805638429	0.12738	0.165499226601	0.18665	0.433647572994	0.29707	T	0.023	0.17867	T	-0.515755	0.00466	T	-0.501947	0.22145	T	0.0127255447813224	0.00215	T	0.80032	0.44603	T	0.09218572	0.21620	0.08854248	0.20650	0.09218572	0.21620	0.08854248	0.20650	-3.944	0.22963	T	.	.	0.073	0.04599	B	.	.	1.942941	0.24678	16.49	0.99142352313699977	0.53573	0.78145	0.38511	D	AEFDGBCI	0.280364	0.39420	N	-0.334370868506915	0.27851	1.531367	-0.221038961486426	0.30783	1.736232	0.999996208120048	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	2.32	0.27895	1.020000	0.29629	1.802000	0.28890	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.2262:0.0:0.6408:0.1329	6.476	0.21238	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012588	0.015152	0.006793	0.005848	0.000000	0.034483	0.021341	0.018939	0.05	1529.43	34	chr9	128999742	.	G	T	1529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.092;DP=462;ExcessHet=0;FS=1.326;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.593;SOR=0.818	GT:AD:DP:GQ:PL	0/1:75,68:143:99:1541,0,1741	9	0	1	0
chr9	129012238	129012238	C	T	exonic	SH3GLB2	.	nonsynonymous SNV	SH3GLB2:NM_001287046:exon6:c.G622A:p.A208T,SH3GLB2:NM_020145:exon6:c.G622A:p.A208T,SH3GLB2:NM_001287045:exon7:c.G634A:p.A212T,SH3GLB2:NM_001369913:exon7:c.G667A:p.A223T,SH3GLB2:NM_001369914:exon7:c.G634A:p.A212T	.	.	.	.	.	.	.	.	0.0789	0.45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0465020681768	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453504798	1.756e-05	2.189e-05	1.509e-05	2.028e-05	2.118e-05	1.147e-05	9.32e-06	1.383e-05	1.124e-05	0	0	0	0	0	0	2.118e-05	0	0	6.583e-06	6.57e-06	1.287e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.086	0.39575	T	0.152	0.32249	T	0.911	0.63424	P	0.425	0.55126	B	0.000000	0.84330	D	0.046708	1	0.81001	D	2.285	0.65182	M	2.2	0.18570	T	-0.56	0.18670	N	0.645	0.66529	-1.0225	0.22899	T	0.103	0.37894	T	10	0.52795655	0.63018	D	0.046502	0.62489	D	0.191	0.46948	0.302	0.27003	0.434384183301	0.43057	0.3415088200859241	0.34063	0.918288061537	0.71338	0.833063840866	0.87031	D	0.051908	0.29011	T	-0.0711754	0.41140	T	-0.340015	0.40343	T	0.727578341960907	0.42085	D	0.937306	0.76420	D	0.104804724	0.24778	0.15982275	0.37254	0.104804724	0.24778	0.15982275	0.37253	-3.406	0.15670	T	.	.	0.214	0.58269	B	.;.;.;.	.;.;.;.	4.085643	0.60807	24.3	0.99885891433823804	0.96126	0.99439	0.96043	D	AEFDGBI	0.855564	0.77269	D	0.370299403183482	0.59818	4.164598	0.396229481475707	0.61332	4.331837	0.999999999917713	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.81	4.9	0.63643	6.132000	0.71419	2.141000	0.30844	-0.223000	0.07921	1.000000	0.71638	0.986000	0.30841	0.995000	0.73285	0.1404:0.8596:0.0:0.0	15.375	0.74312	917	0.20147	BAR domain|BAR domain|BAR domain;BAR domain|BAR domain|BAR domain;.;BAR domain|BAR domain|BAR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	848.43	35	chr9	129012238	.	C	T	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.82;DP=434;ExcessHet=0;FS=0.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.33;SOR=0.526	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr9	129619764	129619764	T	C	exonic	C9orf50	.	nonsynonymous SNV	C9orf50:NM_199350:exon2:c.A575G:p.N192S	.	424	1067	29	2	0	33	0.0152284	.	.	.	2826464	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0043	0.00239617	0.0031	0.0011	0.0041	0.0001	0	0.0041	0.0110	0.0020	0.0030595	473	154602	rs139758889	0.0036	0.0036	0.0037	0.0036	0.0106	0.0036	0.0035	0.0085	0.0077	0.0006	0.0042	0.0068	2.519e-05	0.0004	0.0106	0.0039	0.0043	0.0026	0.0031	0.0031	0.0034	0.0029	0.0060	0.0029	0.0028	0.0050	0.0047	0.0008	0	0.0060	0.0075	0	0.0003	0.0136	0.0044	0.0038	0.0025	0.921	0.02304	T	0.647	0.06812	T	0.01	0.15535	B	0.005	0.11217	B	0.391868	0.04482	N	1.419460	1	0.08975	N	-0.46	0.02758	N	2.61	0.13095	T	-1.03	0.27052	N	0.063	0.03502	-0.9702	0.37157	T	0.009	0.03096	T	10	0.0034188926	0.00060	T	.	.	.	0.019	0.03383	.	.	0.0138822411134	0.00435	0.011741665969622806	0.01134	0.529963951167	0.50551	.	.	.	9.3E-4	0.00486	T	-0.749097	0.00018	T	-0.844797	0.01029	T	0.000991300197597474	0.00010	T	0.505449	0.15971	T	0.030348785	0.02682	0.038332105	0.03678	0.030348785	0.02682	0.038332105	0.03678	-1.057	0.01064	T	.	.	0.079	0.07507	B	.	.	-0.024190	0.04119	0.976	0.59347015220903909	0.06203	0.01250	0.04399	N	AEFDBHCI	0.026021	0.01882	N	-1.58098593737585	0.01362	0.05936398	-1.65406289132508	0.01355	0.06118232	0.999999667143698	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.48	-6.22	0.01881	-1.405000	0.02598	-2.377000	0.03830	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.101000	0.18331	0.0:0.2666:0.1454:0.588	5.971	0.18590	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.014099	0.005051	0.012228	0.002924	0.000000	0.025862	0.027439	0.018939	0.05	2361.43	44	chr9	129619764	.	T	C	2361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.48;DP=575;ExcessHet=0;FS=0.489;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.211;SOR=0.643	GT:AD:DP:GQ:PL	0/1:121,103:224:99:2373,0,2939	9	0	1	0
chr9	129829205	129829205	G	A	exonic	C9orf78	.	nonsynonymous SNV	C9orf78:NM_016520:exon8:c.C778T:p.R260W	.	.	.	.	.	.	.	.	0.0002	0.208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0210216390015	7.7e-05	.	3.49e-05	0	0	0	0	1.585e-05	0	0.0002	3.23e-05	5	154602	rs140049867	4.594e-05	4.857e-05	4.64e-05	4.547e-05	6.964e-05	3.67e-05	3.355e-05	3.814e-05	3.416e-05	2.993e-05	0	0	0	0	0	4.869e-05	9.956e-05	6.964e-05	2.629e-05	2.627e-05	2.57e-05	2.692e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0.0005	0	0.013	0.53900	D	0.011	0.64786	D	0.978	0.58756	D	0.421	0.45113	B	0.003158	0.35359	N	0.307055	0.998743	0.45372	D	.	.	.	0.81	0.48460	T	-1.79	0.42191	N	0.36	0.40164	-1.0043	0.28666	T	0.096	0.36238	T	10	0.17809793	0.32878	T	0.021022	0.43722	T	0.084	0.24469	.	.	0.621426341079	0.61835	0.7301901121603935	0.72964	0.768211306109	0.64631	.	.	.	0.05832	0.30810	T	-0.338886	0.05465	T	-0.487894	0.23612	T	0.0812331883383115	0.10144	T	0.80282	0.44919	T	0.06622246	0.14229	0.06699215	0.13798	0.06622246	0.14229	0.06699215	0.13798	-7.198	0.55467	T	.	.	0.337	0.55733	B	.	.	4.681999	0.74937	26.2	0.99883328649177361	0.95892	0.85617	0.44769	D	AEFDGBCI	0.646481	0.62200	D	0.0461954240446718	0.43966	2.679501	0.0415737504117576	0.41666	2.507	0.999986006978082	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	-0.0882	0.13009	1.659000	0.37003	3.550000	0.39044	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0642:0.0:0.4245:0.5113	10.982	0.46718	366	0.84579	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	865.43	33	chr9	129829205	.	G	A	865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.08;DP=391;ExcessHet=0;FS=0.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=1;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1009	9	0	1	0
chr9	129834709	129834709	-	A	exonic	C9orf78	.	frameshift insertion	C9orf78:NM_016520:exon2:c.140dupT:p.S48Efs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1201.39	35	chr9	129834709	.	C	CA	1201.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.614;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.38;ReadPosRankSum=-1.562;SOR=0.685	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1024	9	0	1	0
chr9	130099504	130099504	C	T	exonic	GPR107	.	nonsynonymous SNV	GPR107:NM_001136557:exon10:c.C911T:p.T304I,GPR107:NM_001136558:exon10:c.C911T:p.T304I,GPR107:NM_001287346:exon10:c.C344T:p.T115I,GPR107:NM_020960:exon10:c.C911T:p.T304I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.0180350822126	0.0012	0.000199681	0.0012	0.0005	0.0009	0	0.0003	0.0018	0	6.108e-05	0.0011837	183	154602	rs41279172	0.0019	0.0020	0.0020	0.0019	0.0024	0.0019	0.0019	0.0023	0.0023	0.0006	0.0006	7.682e-05	0	0.0006	0.0007	0.0024	0.0014	9.305e-05	0.0013	0.0013	0.0013	0.0012	0.0023	0.0011	0.0011	0.0020	0.0019	0.0004	0	0.0003	0	0	0.0011	0	0.0023	0.0014	0.0002	0.46	0.08736	T	0.456	0.16522	T	0.63	0.40197	P	0.212	0.37394	B	0.000001	0.84330	D	0.000000	1	0.81001	D	1.845	0.48678	L	1.9	0.23486	T	-1.78	0.42001	N	0.687	0.69300	-1.1007	0.04008	T	0.064	0.26632	T	10	0.03224185	0.01372	T	0.018035	0.39967	T	0.354	0.67510	.	.	0.365710854667	0.36188	0.7508004069505936	0.75027	0.319581712217	0.34159	0.785552024841	0.79767	T	0.016455	0.13597	T	-0.112874	0.34293	T	0.0617238	0.74359	D	0.465087413787842	0.31351	T	0.928507	0.80472	D	0.4051486	0.61087	0.16488396	0.38173	0.4051486	0.61088	0.16488396	0.38172	-10.464	0.76640	D	.	.	0.682	0.77306	P	.;.;.;.	.;.;.;.	4.414774	0.68328	25.2	0.99578538913307968	0.72861	0.96570	0.69802	D	AEFDBCI	0.867141	0.78681	D	0.26303680200165	0.54288	3.59461	0.400659989540805	0.61604	4.36308	0.999999999999994	0.74766	0.741868	0.97996	0	0.743671	0.97443	0	0.724815	0.87919	0	0.662026	0.63922	0	.	.	5.26	5.26	0.73479	7.333000	0.78468	5.896000	0.50824	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.461	0.87514	515	0.74782	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	412.43	33	chr9	130099504	.	C	T	412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.774;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=1.44;SOR=0.807	GT:AD:DP:GQ:PL	0/0:29,0:29:81:0,81,1215	9	0	1	0
chr9	130396183	130396183	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon73:c.C11068T:p.R3690W	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889933653	8.463e-05	7.114e-05	7.99e-05	8.961e-05	0.0025	7.068e-05	6.564e-05	0.0014	0.0011	8.285e-05	0.0001	0	8.098e-05	0	0.0025	7.267e-05	0.0002	5.275e-05	3.297e-05	3.285e-05	3.865e-05	2.701e-05	6.57e-05	1.264e-05	8e-06	8.04e-06	3.01e-06	4.85e-05	0	6.57e-05	0	0	0	0	2.944e-05	0	0	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.28498	.	.	.	.	.	.	.	0.18086404	0.33291	T	.	.	.	.	.	.	.	0.319686207203	0.31575	0.607130564527308	0.60645	.	.	.	.	.	0.068293	0.33421	T	-0.407473	0.02067	T	-0.586414	0.13978	T	.	.	.	0.667933	0.27701	T	0.19725412	0.41583	0.16588561	0.38352	0.19725412	0.41583	0.16588561	0.38351	-7.563	0.58052	D	.	.	0.104	0.18746	B	.	.	3.008184	0.40220	21.1	0.71129836947590164	0.09525	0.13500	0.17891	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0716594537524788	0.15575	0.252514	0.04256	0	0.063388	0.01293	0	0.295636	0.05589	0	0.079188	0.02158	0	0.143992	0.26964	5.69	2.61	0.30255	0.512000	0.22461	2.114000	0.30678	-0.223000	0.07921	0.028000	0.20300	0.986000	0.30841	0.004000	0.06068	0.2715:0.5972:0.1312:0.0	10.301	0.42831	382	0.83637	Immunoglobulin I-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	770.43	33	chr9	130396183	.	C	T	770.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=355;ExcessHet=0;FS=1.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=1.18;SOR=1.012	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	9	0	1	0
chr9	130693813	130693813	C	G	exonic	EXOSC2	.	nonsynonymous SNV	EXOSC2:NM_001282708:exon1:c.C22G:p.P8A,EXOSC2:NM_001282709:exon1:c.C22G:p.P8A,EXOSC2:NM_014285:exon1:c.C22G:p.P8A	.	424	1080	18	0	0	18	0.00826446	.	.	.	700837	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0062	0.00439297	0.0066	0.0011	0.0055	0	0.0053	0.0101	0.0128	0.0007	0.0065911	1019	154602	rs148203698	0.0091	0.0091	0.0095	0.0087	0.0106	0.0089	0.0089	0.0102	0.0101	0.0015	0.0083	0.0122	0	0.0071	0.0106	0.0103	0.0087	0.0007	0.0073	0.0073	0.0073	0.0074	0.0169	0.0070	0.0068	0.0152	0.0146	0.0016	0	0.0169	0.0127	0	0.0042	0.0034	0.0100	0.0085	0.0004	0.308	0.14400	T	0.463	0.17804	T	0.163	0.28433	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.995	0.54099	M	.	.	.	-0.61	0.20145	N	0.532	0.60071	-0.8987	0.48125	T	0.148	0.47451	T	9	0.0038621426	0.00073	T	.	.	.	0.133	0.36157	.	.	0.417843521124	0.41399	0.6175119277126452	0.61683	0.251371934609	0.27716	0.499638319016	0.38777	T	0.023743	0.18072	T	-0.290106	0.09626	T	-0.180098	0.56513	T	0.056697104391996	0.06637	T	0.886111	0.61435	D	0.51128685	0.67754	0.33483872	0.59305	0.3455371	0.56717	0.33483872	0.59304	-3.258	0.13201	T	.	.	0.124	0.36614	B	.;.;.;.;.	.;.;.;.;.	3.155387	0.42731	21.6	0.98005198761461765	0.37513	0.78834	0.38956	D	ALL	0.492025	0.52883	N	-0.00603962235549151	0.41582	2.489714	0.167353290337348	0.48069	3.027899	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	6.06	6.06	0.98340	3.852000	0.55642	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	19.609	0.95588	761	0.50382	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008569	0.005102	0.004076	0.020468	0.000000	0.017241	0.012195	0.007576	0.05	745.43	33	chr9	130693813	.	C	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.394;DP=384;ExcessHet=0;FS=3.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.225;SOR=1.118	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	9	0	1	0
chr9	130884986	130884986	C	T	exonic	ABL1	.	nonsynonymous SNV	ABL1:NM_005157:exon11:c.C2696T:p.P899L,ABL1:NM_007313:exon11:c.C2753T:p.P918L	Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)	.	.	.	.	.	.	.	.	.	.	2826506	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.216	0.0392444207824	.	.	3.904e-05	0	0	0	0	5.385e-05	0	6.433e-05	2.59e-05	4	154602	rs777134913	1.714e-05	1.779e-05	2.046e-05	1.378e-05	8.966e-05	1.176e-05	9.94e-06	2.376e-05	1.258e-05	8.966e-05	4.494e-05	0.0003	2.523e-05	1.935e-05	0	5.399e-06	3.322e-05	1.161e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	0	0	0.0002	0.006	0.61437	D	0.176	0.29945	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.805	0.20218	L	1.29	0.35775	T	-3.89	0.72820	D	0.508	0.53972	-0.9504	0.40903	T	0.152	0.48032	T	10	0.27066302	0.44599	T	0.039244	0.58699	D	0.216	0.50959	0.255	0.19533	0.484561410422	0.48089	0.26911263282266024	0.26824	0.801583472613	0.66277	0.688169121742	0.65442	T	0.642545	0.89056	D	-0.190374	0.22204	T	-0.335388	0.40865	T	0.530407249927521	0.33749	D	0.933007	0.75597	D	0.23782265	0.46652	0.19218062	0.42718	0.23782265	0.46652	0.19218062	0.42717	-5.487	0.41747	T	0.6805784037750102	0.75690	0.139	0.34906	B	.;.	.;.	4.253359	0.64575	24.7	0.94679798744629773	0.25312	0.95639	0.65530	D	AEFDGBCI	0.701915	0.65846	D	0.544121478596182	0.69724	5.397923	0.560890149974679	0.72160	5.765979	0.999999999964946	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	5.740000	0.68268	7.492000	0.59381	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.0:1.0:0.0:0.0	17.346	0.87197	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	803.43	36	chr9	130884986	.	C	T	803.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.651;DP=382;ExcessHet=0;FS=7.273;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.489;SOR=0.209	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	9	0	1	0
chr9	131151751	131151751	A	G	exonic	NUP214	.	nonsynonymous SNV	NUP214:NM_001318324:exon17:c.A2263G:p.I755V,NUP214:NM_005085:exon17:c.A2293G:p.I765V	Leukemia, T-cell acute lymphoblastic, somatic;Leukemia, acute myeloid, somatic	9	1462	46	5	0	56	0.0187919	.	.	.	711799	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.073	.	0.0061	0.0091853	0.0097	0.0014	0.0025	0	0.0011	0.0089	0.0143	0.0321	0.0090361	1397	154602	rs61756081	0.0086	0.0087	0.0078	0.0094	0.0305	0.0085	0.0084	0.0295	0.0291	0.0012	0.0032	0.0228	0.0001	0.0014	0.0157	0.0076	0.0097	0.0305	0.0054	0.0054	0.0055	0.0053	0.0305	0.0051	0.0050	0.0265	0.0249	0.0012	0	0.0036	0.0202	0.0002	0.0014	0.0034	0.0068	0.0071	0.0305	0.247	0.22486	T	0.071	0.43721	T	0.996	0.68779	D	0.994	0.82059	D	0.000812	0.41658	D	0.000000	1	0.81001	D	2.36	0.67893	M	1.15	0.40469	T	-0.71	0.20145	N	0.217	0.24260	-0.8791	0.49833	T	0.098	0.36548	T	10	0.00616318	0.00139	T	.	.	.	0.073	0.21317	.	.	0.485999240436	0.48233	0.21308024907835285	0.21224	0.0833740660745	0.09400	0.589299201965	0.51395	T	0.190715	0.54534	T	-0.43884	0.01314	T	-0.380142	0.35705	T	0.0246661170356991	0.01229	T	0.847515	0.52873	T	0.0484663	0.08453	0.06507281	0.13137	0.057485644	0.11446	0.06507281	0.13136	-5.236	0.39305	T	.	.	0.124	0.29394	B	.;.;.	.;.;.	3.931126	0.57454	23.9	0.99851761160429398	0.93102	0.95398	0.64564	D	AEGBCI	0.726859	0.67539	D	0.356230630539747	0.59069	4.083457	0.480121756304526	0.66674	4.982927	0.999999999999521	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	5.748000	0.68333	8.000000	0.76147	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.561	0.75984	357	0.85079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015657	0.000000	0.009511	0.043860	0.000000	0.008621	0.015432	0.018939	0.05	1971.43	34	chr9	131151751	.	A	G	1971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.656;DP=510;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.853;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	9	0	1	0
chr9	131619076	131619076	C	T	exonic	RAPGEF1	.	nonsynonymous SNV	RAPGEF1:NM_001377938:exon11:c.G1925A:p.R642Q,RAPGEF1:NM_001377935:exon12:c.G2036A:p.R679Q	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	.	.	.	8.558e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs766787831	5.719e-05	5.062e-05	6.399e-05	5.025e-05	0.0001	4.596e-05	4.211e-05	8.442e-05	6.586e-05	3.822e-05	5.518e-05	0	0	0	0	5.574e-05	2.287e-05	0.0001	2.629e-05	2.627e-05	2.57e-05	2.69e-05	6.543e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2238.43	33	chr9	131619076	.	C	T	2238.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.037;DP=494;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.16;SOR=0.819	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1413	9	0	1	0
chr9	132329364	132329364	C	T	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.G2234A:p.R745H,SETX:NM_001351528:exon10:c.G2234A:p.R745H,SETX:NM_015046:exon10:c.G2234A:p.R745H	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1356065	Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2	MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.269	0.0216368309663	.	.	8.254e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs373933140	3.763e-05	3.762e-05	4.357e-05	3.163e-05	0.0002	2.96e-05	2.656e-05	2.999e-05	2.671e-05	0	2.236e-05	0	2.521e-05	0	0.0002	3.957e-05	8.28e-05	3.478e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	0.0001	1.715e-05	1.129e-05	2.263e-05	9.08e-06	2.412e-05	0	0.0001	0	0	0	0	4.41e-05	0	0	0.423	0.09746	T	0.213	0.26467	T	0.0	0.02946	B	0.0	0.01387	B	0.149569	0.02951	N	1.760590	1	0.08975	N	0.145	0.08828	N	-1.99	0.85320	D	-0.11	0.08653	N	0.025	0.00485	-0.7226	0.59334	T	0.332	0.69968	T	10	0.030637711	0.01191	T	0.021637	0.44435	T	0.269	0.58381	0.247	0.18293	0.394685799254	0.39082	0.11804369620844588	0.11731	0.0914562817227	0.10332	0.164467632771	0.00017	T	0.112235	0.42834	T	-0.344387	0.05090	T	-0.563336	0.16064	T	0.0213500101359103	0.00838	T	0.513749	0.16498	T	0.0127901705	0.00042	0.022401212	0.00266	0.0127901705	0.00041	0.022401212	0.00266	-3.294	0.13660	T	0.07805018918061088	0.03714	0.064	0.01738	B	.	.	-1.193187	0.00537	0.013	0.59337275011323287	0.06201	0.01022	0.03842	N	AEFGBI	0.020608	0.00831	N	-2.05542382644573	0.00160	0.00686285	-2.15917940043796	0.00138	0.006070109	0.999999999999959	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.48	-11.0	0.00133	-3.893000	0.00383	-4.997000	0.01893	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.0802:0.623:0.0812:0.2156	11.824	0.51530	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2468.43	183	chr9	132329364	.	C	T	2468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.98;DP=596;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.18;SOR=0.609	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr9	132329641	132329641	G	T	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon10:c.C1957A:p.Q653K,SETX:NM_001351528:exon10:c.C1957A:p.Q653K,SETX:NM_015046:exon10:c.C1957A:p.Q653K	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	38424	not_provided|Amyotrophic_lateral_sclerosis_type_4|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Hereditary_spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.217	.	0.0075	0.00559105	0.0017	0.0190	0.0008	0	0	5.999e-05	0	0	0.0017011	263	154602	rs116333061	0.0006	0.0006	0.0007	0.0005	0.0218	0.0006	0.0006	0.0204	0.0199	0.0218	0.0013	0	0	0	0.0003	2.698e-05	0.0014	3.481e-05	0.0059	0.0059	0.0059	0.0059	0.0201	0.0056	0.0055	0.0190	0.0186	0.0201	0	0.0031	0	0	0	0	2.941e-05	0.0066	0	0.004	0.65419	D	0.4	0.15010	T	0.437	0.35811	B	0.079	0.28749	B	0.005404	0.01077	U	6.723130	3.06893e-08	0.08975	A	1.905	0.50856	L	-2.18	0.86722	D	-1.1	0.28497	N	0.23	0.25867	-0.5268	0.67662	T	0.292	0.66364	T	9	0.042258054	0.02957	T	.	.	.	0.217	0.51112	.	.	0.644179225217	0.64124	0.21048669507374018	0.20964	0.124345642986	0.14002	0.271023511887	0.06275	T	0.261475	0.63295	T	-0.441112	0.01274	T	-0.390808	0.34455	T	0.011204762514747	0.00164	T	0.477152	0.14354	T	0.103919744	0.24565	0.087507665	0.20346	0.103919744	0.24565	0.087507665	0.20345	-2.713	0.07413	T	0.5680977986575673	0.63543	0.074	0.04889	B	.	.	1.923728	0.24430	16.39	0.98704997477146039	0.44967	0.52652	0.29183	D	AEFGBI	0.112327	0.22207	N	-0.543336113667726	0.20692	1.092743	-0.571047036341082	0.20249	1.090108	0.999998878232107	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.11	4.21	0.48984	2.209000	0.42445	4.682000	0.44325	0.676000	0.76740	0.044000	0.21163	0.994000	0.32194	0.097000	0.18139	0.0868:0.0:0.9132:0.0	11.159	0.47731	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1638.43	42	chr9	132329641	.	G	T	1638.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.406;DP=539;ExcessHet=0;FS=1.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.45;SOR=0.803	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr9	132349370	132349370	C	T	exonic	SETX	.	nonsynonymous SNV	SETX:NM_001351527:exon3:c.G59A:p.R20H,SETX:NM_001351528:exon3:c.G59A:p.R20H,SETX:NM_015046:exon3:c.G59A:p.R20H	Amyotrophic lateral sclerosis 4, juvenile, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 1, Autosomal recessive	0	1456	62	4	0	70	0.0234742	.	.	.	167386	not_specified|Hereditary_spastic_paraplegia|Spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_2|Amyotrophic_lateral_sclerosis_type_4|not_provided|SETX-related_disorder	MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MONDO:MONDO:0018996,MedGen:C1853761,OMIM:606002,Orphanet:64753|MONDO:MONDO:0011223,MedGen:C1865409,OMIM:602433,Orphanet:357043|MedGen:C3661900|MedGen:CN239403	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0075	0.00499201	0.0091	0.0012	0.0036	0.0001	0.0147	0.0101	0.0188	0.0155	0.0086998	1345	154602	rs79740039	0.0088	0.0088	0.0084	0.0091	0.0171	0.0086	0.0086	0.0164	0.0161	0.0010	0.0042	0.0148	5.038e-05	0.0148	0.0102	0.0084	0.0089	0.0171	0.0064	0.0064	0.0061	0.0067	0.0153	0.0060	0.0059	0.0125	0.0115	0.0011	0.0022	0.0040	0.0187	0.0006	0.0122	0.0137	0.0084	0.0061	0.0153	0.17	0.22833	T	0.149	0.32568	T	0.001	0.07471	B	0.0	0.01387	B	0.735858	0.09817	N	0.885675	1	0.08975	N	-0.205	0.04094	N	-2.05	0.85799	D	-0.29	0.11728	N	0.15	0.15328	-0.8472	0.52161	T	0.270	0.64172	T	10	0.004255116	0.00085	T	.	.	.	0.159	0.41286	.	.	0.448201132538	0.44443	0.12600139864134424	0.12526	0.0917731457637	0.10355	0.204671382904	0.00605	T	0.117865	0.43827	T	-0.560547	0.00252	T	-0.564337	0.15973	T	0.00122955172566443	0.00012	T	0.361964	0.08365	T	0.014244143	0.00086	0.022708347	0.00291	0.014285566	0.00087	0.027406773	0.00891	-4.277	0.27853	T	0.1747803816770208	0.22217	0.069	0.02993	B	.	.	0.612085	0.09802	6.570	0.92263669881209909	0.21646	0.04053	0.09499	N	AEFDBI	0.036786	0.04956	N	-1.69140150977278	0.00873	0.03776316	-1.69040660015611	0.01180	0.05311669	0.999684626622567	0.41756	0.706548	0.73137	0	0.685571	0.66316	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.41	-2.16	0.06684	-0.510000	0.06411	0.104000	0.14688	-2.266000	0.00332	0.000000	0.06391	0.002000	0.18203	0.032000	0.13371	0.1089:0.3528:0.1068:0.4315	3.062	0.05828	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006552	0.010101	0.002717	0.008772	0.000000	0.008621	0.009202	0.007576	0.05	899.43	35	chr9	132349370	.	C	T	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.012;DP=411;ExcessHet=0;FS=2.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=1.3;SOR=0.448	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	9	0	1	0
chr9	132648546	132648546	C	T	exonic	DDX31	.	nonsynonymous SNV	DDX31:NM_001322340:exon10:c.G1061A:p.R354H,DDX31:NM_001322342:exon10:c.G530A:p.R177H,DDX31:NM_001322343:exon10:c.G674A:p.R225H,DDX31:NM_022779:exon10:c.G1061A:p.R354H,DDX31:NM_138620:exon10:c.G1061A:p.R354H,DDX31:NM_001322341:exon11:c.G773A:p.R258H	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0357944468997	0.0021	0.000998403	0.0025	0.0008	0.0012	0	0.0009	0.0038	0.0033	0.0009	0.0025226	390	154602	rs143806652	0.0034	0.0034	0.0035	0.0033	0.0039	0.0033	0.0033	0.0038	0.0038	0.0005	0.0015	0.0015	2.522e-05	0.0019	0.0033	0.0039	0.0037	0.0012	0.0023	0.0023	0.0024	0.0022	0.0037	0.0021	0.0020	0.0033	0.0032	0.0009	0	0.0016	0.0017	0	0.0011	0.0136	0.0037	0.0024	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.25	0.31749	L	2.41	0.15492	T	-4.79	0.80682	D	0.795	0.81162	-0.9288	0.44313	T	0.154	0.48498	T	10	0.04234445	0.02975	T	0.035794	0.56579	D	0.428	0.73517	.	.	0.808224753224	0.80642	0.7170403579168975	0.71647	0.728558587386	0.62620	0.775284767151	0.78217	T	0.022535	0.17359	T	-0.242537	0.15027	T	-0.120211	0.61785	T	0.0459034787107517	0.04766	T	0.991044	0.97243	D	0.77226734	0.82184	0.6375237	0.78833	0.77226734	0.82185	0.6375237	0.78833	-10.39	0.76369	D	.	.	0.685	0.75622	P	.;.;.;.	.;.;.;.	5.394745	0.90360	31	0.99936997202790934	0.99661	0.98795	0.86952	D	AEFBI	0.830421	0.74914	D	0.951897285188662	0.94060	12.47286	0.935847212120007	0.96954	15.37658	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.236000	0.77612	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.868	0.96822	730	0.54327	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004550	0.000000	0.005435	0.014620	0.000000	0.000000	0.006173	0.000000	0.05	615.43	34	chr9	132648546	.	C	T	615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.73;DP=248;ExcessHet=0;FS=4.715;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.23;ReadPosRankSum=0.759;SOR=2.004	GT:AD:DP:GQ:PL	0/0:11,0:11:27:0,27,405	9	0	1	0
chr9	132662595	132662595	A	T	exonic	DDX31	.	nonsynonymous SNV	DDX31:NM_001322340:exon2:c.T491A:p.V164D,DDX31:NM_001322343:exon2:c.T104A:p.V35D,DDX31:NM_001322344:exon2:c.T491A:p.V164D,DDX31:NM_022779:exon2:c.T491A:p.V164D,DDX31:NM_138620:exon2:c.T491A:p.V164D,DDX31:NM_001322341:exon3:c.T203A:p.V68D	.	427	1094	1	0	0	1	0.00045683	.	.	.	2269746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00770464075836	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0004	0.0011	0	0.0002329	36	154602	rs142850420	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0006	0.0004	2.987e-05	0.0002	0	0	0	0.0012	0.0005	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	7.895e-05	4.81e-05	0.0011	6.539e-05	0	0	0	0	0.0002	0.0005	0	0.412	0.12754	T	0.308	0.34837	T	0.003	0.25713	B	0.001	0.19966	B	0.817049	0.09208	N	0.922312	0.999999	0.08975	N	0.55	0.14455	N	4.41	0.04799	T	0.37	0.03639	N	0.143	0.15609	-1.0075	0.27696	T	0.049	0.20987	T	10	0.0129597485	0.00276	T	0.007705	0.20431	T	0.014	0.01968	.	.	0.27479166964	0.27093	0.3070588009125128	0.30618	0.245987167374	0.27129	0.260633438826	0.04966	T	5.37E-4	0.00207	T	-0.538875	0.00340	T	-0.689867	0.06396	T	0.0158827032298515	0.00374	T	0.644436	0.25592	T	0.15108034	0.34363	0.08978217	0.21016	0.15108034	0.34363	0.08978217	0.21015	-4.129	0.25716	T	.	.	0.087	0.19032	B	.;.;.;.;.	.;.;.;.;.	0.928735	0.13039	9.543	0.62504826091639476	0.06980	0.05094	0.10893	N	AEFGBI	0.031586	0.03409	N	-0.966067512975474	0.09336	0.4414052	-0.917080469823198	0.11692	0.5971747	0.999891359155048	0.45129	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.49	1.68	0.23219	0.236000	0.17745	0.344000	0.17410	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.454000	0.27984	0.4407:0.0:0.2699:0.2894	3.296	0.06557	735	0.53711	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	976.43	34	chr9	132662595	.	A	T	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=423;ExcessHet=0;FS=1.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-0.43;SOR=0.94	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	9	0	1	0
chr9	132883980	132883980	C	G	exonic	SPACA9	.	nonsynonymous SNV	SPACA9:NM_001316897:exon2:c.C33G:p.I11M,SPACA9:NM_001316898:exon2:c.C33G:p.I11M,SPACA9:NM_001316900:exon2:c.C33G:p.I11M,SPACA9:NM_018956:exon2:c.C33G:p.I11M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0119363904338	.	.	3.297e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs563527507	2.257e-05	2.257e-05	1.497e-05	3.025e-05	0.0004	1.61e-05	1.416e-05	0.0003	0.0002	0	0	0	0	0	0	1.799e-06	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.47320	D	0.039	0.52389	D	0.878	0.48338	P	0.605	0.55692	P	0.006487	0.31997	N	0.260548	0.996327	0.23049	N	.	.	.	0.78	0.49358	T	-1.47	0.35991	N	0.462	0.49874	-0.9691	0.37386	T	0.125	0.42966	T	10	0.1461477	0.27711	T	0.011936	0.30057	T	0.130	0.35528	0.328	0.31196	0.338834610459	0.33488	0.24086321471083597	0.24000	0.271789346876	0.29692	.	.	.	0.127295	0.45422	T	-0.330182	0.06098	T	-0.437761	0.29060	T	0.606267511844635	0.36650	D	0.819218	0.50742	T	0.0980703	0.23127	0.11514858	0.27797	0.0980703	0.23126	0.11514858	0.27797	-4.445	0.33908	T	.	.	0.155	0.34775	B	.;.;.	.;.;.	0.332585	0.07066	3.633	0.99109816647937177	0.52699	0.02839	0.07588	N	AEFDBI	0.051767	0.09177	N	-0.400355002566945	0.25457	1.382034	-0.583547883115235	0.19921	1.071044	0.992564217432498	0.32885	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.16	-3.54	0.04356	-1.580000	0.02225	-2.015000	0.04342	-0.217000	0.08171	0.002000	0.15269	0.000000	0.08366	0.641000	0.32449	0.1598:0.2796:0.3736:0.1869	2.765	0.04992	791	0.46100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1289.43	37	chr9	132883980	.	C	G	1289.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.655;DP=451;ExcessHet=0;FS=1.365;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.01;SOR=0.875	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1200	9	0	1	0
chr9	133071303	133071303	G	C	exonic	CEL	.	nonsynonymous SNV	CEL:NM_001807:exon11:c.G1801C:p.A601P	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	115	1368	29	5	5	44	0.0140541	.	.	.	1184208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.212	.	.	.	0.4112	0	0.2	0	.	0.3333	0	0.4727	0.0015006	232	154602	rs756704908	0.0080	0.0062	0.0070	0.0089	0.0279	0.0078	0.0077	0.0266	0.0261	0.0012	0.0046	0.0171	0.0008	0.0072	0.0214	0.0057	0.0072	0.0279	0.0027	0.0039	0.0026	0.0029	0.0139	0.0024	0.0023	0.0093	0.0078	0.0005	0.0034	0.0028	0.0101	0.0008	0.0019	0	0.0031	0.0032	0.0139	0.003	0.68238	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.45	0.69896	T	-0.46	0.14978	N	0.12	0.11054	-0.7390	0.58504	T	0.328	0.69631	T	9	0.002461046	0.00037	T	.	.	.	0.212	0.50341	.	.	.	.	0.07351690158995682	0.07288	1.00469648732	0.74536	0.776454806328	0.78393	T	0.019292	0.15396	T	-0.399635	0.02328	T	-0.319665	0.42611	T	0.0485864028472388	0.05248	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24599	B	.	.	2.200563	0.28064	17.67	0.9907478307719837	0.51810	0.03018	0.07894	N	AEFHCI	0.147376	0.27103	N	-0.586236619627421	0.19362	1.012727	-0.849127286812922	0.13309	0.6896853	0.117021367542883	0.16792	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.13	-0.24	0.12403	0.089000	0.14843	0.179000	0.15609	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2463:0.1872:0.3758:0.1907	0.667	0.00798	962	0.08456	Mucin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015977	0.000000	0.013812	0.034091	0.000000	0.000000	0.012346	0.024590	0.05	337.43	27	chr9	133071303	.	G	C	337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.159;DP=203;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.1;ReadPosRankSum=-1.404;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:13,0:13:36:.:.:0,36,540:.	9	0	1	0
chr9	133071615	133071647	CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	-	exonic	CEL	.	nonframeshift deletion	CEL:NM_001807:exon11:c.2113_2145del:p.E710_S720del	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	24	1475	14	1	8	24	0.00539447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0529	0.0229	0.0257	0.0016	0.0900	0.0871	0.0267	0.0167	0.0014215	37	26028	rs774195156	0.0075	0.0076	0.0069	0.0081	0.0075	0.0074	0.0073	0.0074	0.0073	0.0026	0.0037	0.0047	0.0003	0.0259	0.0012	0.0075	0.0084	0.0053	0.0098	0.0100	0.0102	0.0094	0.0158	0.0094	0.0092	0.0149	0.0146	0.0031	0.0044	0.0053	0.0040	0.0003	0.0148	0	0.0158	0.0073	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	663.39	33	chr9	133071614	.	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	663.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.41;DP=307;ExcessHet=0;FS=5.022;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=0.85;SOR=0.189	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,313	9	0	1	0
chr9	133121102	133121102	G	T	exonic	RALGDS	.	nonsynonymous SNV	RALGDS:NM_001271776:exon1:c.C53A:p.P18Q,RALGDS:NM_006266:exon1:c.C53A:p.P18Q	.	13	1504	5	0	0	5	0.00165948	.	.	.	2712747	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.034	0.320063916056	.	.	0.0002	0	0	0	.	0.0005	0	0.0002	3.88e-05	6	154602	rs777637593	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0002	0.0005	0.0003	7.528e-05	0.0002	4.324e-05	0	0	0.0013	0.0002	0.0004	0.0003	0.0001	0.0001	0.0001	9.458e-05	0.0002	7.609e-05	6.308e-05	0.0001	7.913e-05	4.84e-05	0	0.0002	0	0	0	0	0.0002	0	0.0002	0.017	0.51248	D	0.529	0.10138	T	0.687	0.41560	P	0.275	0.40079	B	.	.	.	.	0.99997	0.53665	D	1.245	0.31408	L	1.78	0.35775	T	-0.38	0.13418	N	0.211	0.23506	-1.0960	0.04611	T	0.055	0.23110	T	9	0.11415234	0.21469	T	0.320064	0.91447	D	0.034	0.08419	0.222	0.14518	0.583271498735	0.57999	0.2223958581355402	0.22154	0.951127366345	0.72634	.	.	.	0.082593	0.36864	T	-0.374939	0.03351	T	-0.468934	0.25632	T	0.113294573615239	0.13762	T	0.654235	0.26451	T	0.090662636	0.21222	0.15986314	0.37263	0.090662636	0.21222	0.15986314	0.37262	-4.747	0.33968	T	.	.	0.168	0.37063	B	.;.	.;.	3.635035	0.51511	23.1	0.95093914747090269	0.26159	0.44646	0.27364	N	AEFDBHCI	0.068302	0.13466	N	-0.260126293096639	0.30700	1.714346	-0.266735603286712	0.29201	1.634143	0.99999999993139	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.29	2.33	0.27981	1.288000	0.32901	8.435000	0.77180	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:0.3974:0.6026:0.0	7.272	0.25437	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008017	0.000000	0.017167	0.015267	0.000000	0.000000	0.008547	0.000000	0.05	230.43	34	chr9	133121102	.	G	T	230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=224;ExcessHet=0;FS=2.392;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.375;SOR=1.828	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	9	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.2	829.58	36	chr9	133208141	.	T	A	829.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.06;DP=164;ExcessHet=1.5895;FS=5.808;InbreedingCoeff=-0.2503;MLEAC=4;MLEAF=0.2;MQ=55.82;MQRankSum=-3.866;QD=10.24;ReadPosRankSum=-0.126;SOR=1.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:48:.:.:0,48,461:.	6	0	4	0
chr9	133412859	133412859	G	A	exonic	REXO4	.	nonsynonymous SNV	REXO4:NM_001279350:exon3:c.C224T:p.A75V,REXO4:NM_001279351:exon3:c.C356T:p.A119V,REXO4:NM_020385:exon3:c.C635T:p.A212V	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0287614879275	7.7e-05	0.000998403	0.0008	0	0	0	0	4.511e-05	0.0022	0.0058	0.0007244	112	154602	rs139090649	0.0005	0.0005	0.0003	0.0006	0.0052	0.0005	0.0004	0.0048	0.0046	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	4.81e-05	0	0	0	0	0	0	0.0001	0.0005	0.0046	0.057	0.37966	T	0.099	0.92824	T	0.816	0.45573	P	0.085	0.29395	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	2.01	0.28189	T	-2.63	0.56466	D	0.428	0.46742	-0.9808	0.34817	T	0.076	0.30645	T	10	0.008217901	0.00186	T	0.028761	0.51384	D	0.154	0.40340	.	.	0.661333968228	0.65849	0.7696014770040387	0.76909	0.292443378065	0.31661	0.454005658627	0.32492	T	0.113201	0.43006	T	-0.286375	0.10002	T	-0.182905	0.56254	T	0.0555135360597435	0.06443	T	0.760924	0.38803	T	0.3463074	0.56778	0.31109592	0.57117	0.3463074	0.56778	0.31109592	0.57116	-9.366	0.70022	D	.	.	0.234	0.47600	B	.;.	.;.	4.786944	0.77651	26.7	0.9987822158636005	0.95491	0.96337	0.68646	D	AEFBCI	0.786355	0.71646	D	0.417084493693013	0.62360	4.450792	0.480800233503021	0.66717	4.988826	0.999999999999896	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.13	5.13	0.69729	7.216000	0.77471	9.797000	0.81675	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.0:1.0:0.0	17.557	0.87794	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1607.43	42	chr9	133412859	.	G	A	1607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.194;DP=493;ExcessHet=0;FS=1.253;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.743;SOR=0.816	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1359	9	0	1	0
chr9	133433442	133433442	G	A	exonic	ADAMTS13	.	nonsynonymous SNV	ADAMTS13:NM_139025:exon10:c.G1157A:p.R386H,ADAMTS13:NM_139026:exon10:c.G1064A:p.R355H,ADAMTS13:NM_139027:exon10:c.G1157A:p.R386H	Thrombotic thrombocytopenic purpura, familial, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	901342	Upshaw-Schulman_syndrome|not_provided	MONDO:MONDO:0010122,MedGen:C1268935,OMIM:274150,Orphanet:93583|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.057	0.035154615848	0.0004	.	0.0003	0	0.0003	0	0	0.0004	0.0022	0.0006	0.0002975	46	154602	rs151048660	0.0002	0.0002	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	8.961e-05	0.0002	0.0010	0	1.893e-05	0.0023	0.0002	0.0003	0.0008	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	4.818e-05	0	0.0003	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.282	0.16466	T	0.456	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.46	0.12951	N	0.16	0.60610	T	0.29	0.08340	N	0.194	0.27077	-1.0308	0.20195	T	0.086	0.33326	T	9	0.057601452	0.06642	T	0.035155	0.56159	D	0.057	0.16321	.	.	0.661710244528	0.65887	0.27980405084893883	0.27893	0.412108884712	0.41960	0.254506707191	0.04257	T	0.041662	0.25932	T	-0.455824	0.01043	T	-0.524944	0.19796	T	0.0125158557050813	0.00207	T	0.743426	0.36288	T	0.05646367	0.11112	0.101116404	0.24197	0.05646367	0.11112	0.101116404	0.24196	-0.842	0.01343	T	.	.	0.06	0.01328	B	.;.;.;.	.;.;.;.	1.038204	0.14185	10.76	0.80278701395729191	0.13128	0.18174	0.20150	N	AEFDGBHCI	0.076710	0.15437	N	-0.888318476583675	0.11120	0.5349228	-0.748491101627715	0.15760	0.8304221	0.992046526955937	0.32699	0.77792	0.99625	0	0.61073	0.52368	0	0.854111	0.99894	0	0.567892	0.33627	0	.	.	4.88	1.11	0.19640	1.061000	0.30152	0.359000	0.17556	-0.641000	0.04447	0.973000	0.34540	0.001000	0.17328	0.116000	0.19000	0.6747:0.0:0.3253:0.0	7.999	0.29449	838	0.37812	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.006793	0.008772	0.000000	0.008621	0.000000	0.003788	0.05	987.43	35	chr9	133433442	.	G	A	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.501;DP=429;ExcessHet=0;FS=2.672;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=1.63;SOR=0.472	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	9	0	1	0
chr9	133463535	133463535	T	G	exonic	CACFD1	.	nonsynonymous SNV	CACFD1:NM_001135775:exon2:c.T174G:p.I58M,CACFD1:NM_001242369:exon2:c.T174G:p.I58M,CACFD1:NM_001242370:exon2:c.T174G:p.I58M,CACFD1:NM_017586:exon2:c.T174G:p.I58M	.	436	45	253	778	10	1819	0.952607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	.	.	0.00259585	0.0059	0.0013	0.0022	0	0.0148	0.0066	0.0066	0.0084	0.0001153	3	26028	rs3124765	0.0069	0.0069	0.0068	0.0070	0.0087	0.0068	0.0067	0.0082	0.0080	0.0012	0.0019	0.0028	0	0.0129	0.0050	0.0072	0.0067	0.0087	0.0053	0.0053	0.0048	0.0058	0.0079	0.0050	0.0049	0.0066	0.0064	0.0012	0.0033	0.0033	0.0023	0	0.0145	0.0340	0.0071	0.0057	0.0079	0.092	0.51248	T	0.308	0.47828	T	0.999	0.77913	D	0.996	0.84481	D	0.000006	0.62929	D	0.101533	0.0179067	0.39852	P	2.14	0.59869	M	0.63	0.88997	T	-1.44	0.46146	N	0.807	0.92084	0.251	0.86755	D	0.697	0.89561	D	9	0.056706637	0.06399	T	.	.	.	0.400	0.71401	.	.	0.285316908763	0.28143	0.8590021238515612	0.85863	0.562485881727	0.52722	0.563520610332	0.47765	T	0.07504	0.35083	T	-0.018878	0.49012	T	0.206221	0.83466	D	0.0508436183059116	0.05647	T	0.880812	0.74900	D	0.11979528	0.28200	0.14666119	0.34737	0.11979528	0.28200	0.14666119	0.34736	-4.443	0.36764	T	.	.	0.661	0.71374	P	.;.;.;.;.	.;.;.;.;.	0.703178	0.10722	7.411	0.9871455286076215	0.45113	0.14597	0.18486	N	AEFDGBCI	0.234158	0.35696	N	-0.888515522714864	0.11116	0.5346667	-1.0411234950966	0.08893	0.4395312	0.999687218535794	0.41756	0.651	0.46895	0	0.611049	0.52481	0	0.779548	0.98927	0	0.683762	0.67416	0	.	.	4.81	-2.59	0.05847	-2.293000	0.01226	-5.196000	0.01811	-2.098000	0.00395	0.000000	0.06391	0.000000	0.08366	0.488000	0.28746	0.1614:0.4159:0.0:0.4227	6.727	0.22551	774	0.48577	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	22798.2	89	chr9	133463535	.	T	G	22798.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.17;DP=1112;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.25;ReadPosRankSum=0.21;SOR=0.723	GT:AD:DP:GQ:PL	0/0:46,0:86:99:851,989,2247	9	0	1	0
chr9	133568440	133568440	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon14:c.G2042A:p.R681Q,ADAMTSL2:NM_014694:exon14:c.G2042A:p.R681Q	Geleophysic dysplasia 1, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	317572	Geleophysic_dysplasia_1|not_specified	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0677937102145	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs553955759	0.0026	0.0026	0.0021	0.0030	0.0155	0.0025	0.0025	0.0148	0.0145	0.0003	0.0018	0.0059	0	0.0005	0.0139	0.0017	0.0034	0.0155	0.0019	0.0019	0.0018	0.0021	0.0157	0.0017	0.0017	0.0129	0.0118	0.0003	0.0154	0.0016	0.0049	0	0.0004	0.0068	0.0020	0.0033	0.0157	0.656	0.04757	T	0.173	0.30926	T	0.153	0.28093	B	0.046	0.24676	B	0.056906	0.22522	U	0.383809	0.791671	0.34394	D	-0.315	0.03579	N	0.18	0.60361	T	0.06	0.07444	N	0.253	0.30574	-1.0182	0.24301	T	0.071	0.28839	T	10	0.015201479	0.00319	T	0.067794	0.70268	D	0.115	0.32236	0.458	0.52427	0.524114710501	0.52058	0.24345535029889892	0.24259	0.615439663432	0.56025	0.431416332722	0.29402	T	0.010579	0.09538	T	-0.151241	0.28116	T	-0.455024	0.27144	T	0.846595525741577	0.49875	D	0.939106	0.77081	D	0.046599776	0.07827	0.04282447	0.05189	0.046599776	0.07827	0.04282447	0.05189	-7.067	0.54522	T	.	.	0.070	0.05535	B	.;.;.	.;.;.	4.219439	0.63804	24.6	0.98661567374471526	0.44345	0.70643	0.34675	D	AEFBI	0.216493	0.34173	N	-0.384201033348936	0.26032	1.417627	-0.30350875060374	0.27986	1.556885	0.00216984613625388	0.09203	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.25	2.33	0.27981	4.335000	0.59081	5.393000	0.48489	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2674:0.0:0.7326:0.0	5.737	0.17339	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3955.14	34	chr9	133568440	.	G	A	3955.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.21;DP=769;ExcessHet=0.2348;FS=2.774;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.749;SOR=0.554	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	8	0	2	0
chr9	135484551	135484551	C	A	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.C41A:p.S14Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0502899856482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.992	0.80445	D	0.002874	0.35804	N	0.240088	0.999878	0.50225	D	2.62	0.76659	M	1.7	0.26885	T	-4.77	0.83625	D	0.409	0.45992	-0.8259	0.53563	T	0.174	0.51674	T	10	0.3299058	0.50236	T	0.05029	0.64181	D	0.377	0.69527	0.321	0.30064	0.102598925029	0.09809	0.5015087269937312	0.50072	0.704328707761	0.61311	0.67654466629	0.63774	T	0.037059	0.24335	T	0.0807456	0.62127	D	-0.121791	0.61656	T	0.993035395924338	0.83685	D	0.731927	0.34732	T	0.66250914	0.76033	0.69857264	0.82245	0.66250914	0.76034	0.69857264	0.82246	-5.485	0.41728	T	.	.	0.399	0.59499	A	.;.;.;.;.	.;.;.;.;.	4.369740	0.67261	25.1	0.99493914103984449	0.67630	0.99553	0.97372	D	AEFGBI	0.789081	0.71837	D	0.78428010874916	0.85112	8.480197	0.746538326165197	0.85898	8.719922	0.999999999999995	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.227000	0.77548	3.934000	0.40555	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	18.259	0.89968	516	0.74704	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1559.43	34	chr9	135484551	.	C	A	1559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.775;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.907;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1310	9	0	1	0
chr9	135486914	135486914	G	A	exonic	PPP1R26	.	nonsynonymous SNV	PPP1R26:NM_014811:exon4:c.G2404A:p.A802T	.	410	1110	2	0	0	2	0.00090009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00143992912446	0.0002	0.000199681	8.713e-05	0.0002	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs199797793	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	0.0001	6.708e-05	0.0003	0	0	0.0002	0.0003	9.939e-05	8.115e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	7.214e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0	0.627	0.05198	T	0.562	0.09052	T	0.988	0.62325	D	0.279	0.40265	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.89	0.10196	T	-0.23	0.10656	N	0.021	0.00372	-0.9799	0.35025	T	0.010	0.03673	T	9	0.039170116	0.02388	T	0.00144	0.02164	T	0.100	0.28662	.	.	0.110392049598	0.10638	0.08722801828231519	0.08655	0.601578476994	0.55202	0.320187449455	0.13449	T	0.001584	0.01021	T	-0.613357	0.00121	T	-0.849521	0.00965	T	0.0206588157064693	0.00766	T	0.290771	0.05306	T	0.029842451	0.02545	0.043997847	0.05603	0.029842451	0.02545	0.043997847	0.05602	-4.516	0.31097	T	.	.	0.080	0.09288	B	.;.;.;.;.	.;.;.;.;.	0.153731	0.05455	1.924	0.96123520734843249	0.28781	0.01024	0.03847	N	AEFDBI	0.034233	0.04204	N	-1.23564309440329	0.04492	0.2028688	-1.41110918923427	0.03140	0.1458995	0.999945910462671	0.47345	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	1.03	-0.559	0.11202	-1.587000	0.02211	-0.165000	0.11284	-1.437000	0.01108	0.000000	0.06391	0.002000	0.18203	0.001000	0.02609	0.3082:0.0:0.6918:0.0	4.082	0.09405	510	0.75209	Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain;Protein phosphatase 1 regulatory subunit 26, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2427.43	34	chr9	135486914	.	G	A	2427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=638;ExcessHet=0;FS=1.089;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.615;SOR=0.779	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	9	0	1	0
chr9	135501001	135501001	C	T	exonic	MRPS2	.	nonsynonymous SNV	MRPS2:NM_016034:exon2:c.C47T:p.A16V,MRPS2:NM_001371401:exon3:c.C47T:p.A16V	.	428	1093	1	0	0	1	0.000457247	.	.	.	3557395	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.0144468537279	.	.	9.23e-06	0	0	0	0	1.702e-05	0	0	6.5e-06	1	154602	rs758180859	1.644e-05	1.642e-05	9.543e-06	2.341e-05	0.0005	1.112e-05	9.35e-06	0.0001	7.552e-05	0	0	0	0	0	0.0005	1.169e-05	0.0001	0	1.315e-05	1.313e-05	0	2.692e-05	6.544e-05	2.19e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.471e-05	0	0	1.0	0.58626	T	0.426	0.58613	T	0.0	0.02946	B	0.001	0.04355	B	0.537332	0.05293	N	1.354340	0.999996	0.08975	N	0.665	0.16292	N	1.94	0.36512	T	0.05	0.06369	N	0.156	0.16168	-1.0310	0.20131	T	0.046	0.19599	T	10	0.05279523	0.05370	T	0.014447	0.34575	T	0.007	0.00512	0.216	0.13643	0.519514513453	0.51594	0.2496107410543429	0.24875	0.223371821447	0.24866	0.620588421822	0.55812	T	0.017134	0.14032	T	-0.437487	0.01338	T	-0.68405	0.06740	T	0.0611829983914971	0.07353	T	0.454955	0.16548	T	0.015482809	0.00141	0.025066087	0.00539	0.015482809	0.00141	0.025066087	0.00539	-4.545	0.31473	T	.	.	0.089	0.13923	B	.;.;.	.;.;.	0.558874	0.09276	6.056	0.99282357053908243	0.57938	0.00298	0.01590	N	ALL	0.034976	0.04426	N	-1.14080996136853	0.05932	0.2717856	-1.18777203035465	0.06113	0.2932699	0.999999996079701	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.64	-1.46	0.08338	-0.672000	0.05345	-0.767000	0.07511	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0:0.4921:0.2029:0.305	3.886	0.08602	458	0.78890	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	835.43	33	chr9	135501001	.	C	T	835.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.451;DP=418;ExcessHet=0;FS=2.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=-0.846;SOR=0.652	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1127	9	0	1	0
chr9	135624268	135624268	A	C	exonic	GLT6D1	.	nonsynonymous SNV	GLT6D1:NM_182974:exon5:c.T660G:p.F220L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000856876467216	.	.	1.703e-05	0	0	0	0	3.033e-05	0	0	1.29e-05	2	154602	rs763189230	8.264e-06	8.209e-06	5.477e-06	1.108e-05	3.552e-05	4.41e-06	3.48e-06	9.44e-06	4.62e-06	0	0	0	0	0	0	8.125e-06	0	3.552e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.556	0.09236	T	0.001	0.07471	B	0.002	0.06944	B	0.836991	0.09063	N	0.922716	1	0.08975	N	1.045	0.26769	L	5.14	0.01205	T	-3.11	0.63669	D	0.04	0.01347	-0.8957	0.48418	T	0.004	0.01125	T	10	0.054039538	0.05692	T	8.57E-4	0.00755	T	0.035	0.08770	0.364	0.37036	0.0138822411134	0.00435	0.1829482754712565	0.18213	0.0140985462636	0.01346	0.331468462944	0.15157	T	0.00626	0.05696	T	-0.405235	0.02138	T	-0.804382	0.01795	T	0.0440099333804128	0.04423	T	0.246275	0.08910	T	0.10230946	0.24175	0.07455424	0.16323	0.10230946	0.24175	0.07455424	0.16323	-5.314	0.40081	T	.	.	0.586	0.70483	P	.;.	.;.	-0.950709	0.00844	0.029	0.34846150142163823	0.02154	0.01158	0.04178	N	AEFBI	0.040018	0.05893	N	-1.69074948065325	0.00875	0.03787052	-1.78243921559529	0.00817	0.03647983	0.00140535360189533	0.08512	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.49	-3.61	0.04264	-2.977000	0.00729	-12.515000	0.00519	-0.819000	0.02980	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.397:0.1435:0.1805:0.279	0.316	0.00275	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1704.43	165	chr9	135624268	.	A	C	1704.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.468;DP=671;ExcessHet=0;FS=2.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.88;SOR=0.946	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1178	9	0	1	0
chr9	135694417	135694417	G	T	exonic	SOHLH1	.	nonsynonymous SNV	SOHLH1:NM_001012415:exon7:c.C916A:p.L306M,SOHLH1:NM_001101677:exon7:c.C916A:p.L306M	.	418	1076	28	0	0	28	0.012844	.	.	.	700885	not_specified|not_provided|SOHLH1-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.205	.	0.0024	0.00439297	0.0040	0.0004	0.0018	0	0.0002	0.0033	0.0080	0.0142	0.0037968	587	154602	rs144035874	0.0040	0.0040	0.0036	0.0045	0.0143	0.0040	0.0039	0.0136	0.0133	0.0003	0.0025	0.0055	2.519e-05	0.0002	0.0078	0.0037	0.0043	0.0143	0.0028	0.0028	0.0027	0.0029	0.0133	0.0026	0.0025	0.0107	0.0097	0.0007	0	0.0026	0.0055	0.0002	9.416e-05	0.0034	0.0039	0.0033	0.0133	0.0	0.91255	D	0.02	0.59159	D	1.0	0.90584	D	0.974	0.77976	D	0.022308	0.26659	N	0.000000	0.963867	0.26006	N	1.905	0.50856	L	1.12	0.43672	T	-0.65	0.20791	N	0.299	0.45237	-1.0194	0.23910	T	0.115	0.40897	T	10	0.00800392	0.00182	T	.	.	.	0.205	0.49236	.	.	0.769224809604	0.76711	0.024377375038672506	0.02388	0.240467876749	0.26590	0.600934326649	0.53037	T	0.170494	0.51826	T	-0.439306	0.01305	T	-0.392132	0.34301	T	0.0480363027054846	0.05149	T	0.375462	0.10029	T	0.14672273	0.33574	0.12945314	0.31125	0.1755579	0.38421	0.12844017	0.30900	-6.666	0.51690	T	.	.	0.286	0.53293	B	.;.	.;.	1.888798	0.23993	16.23	0.99024227393760655	0.50655	0.24659	0.22462	N	AEFDBI	0.044883	0.07275	N	-0.149903679894684	0.35239	2.021542	-0.339853883871407	0.26825	1.484233	0.982373399511602	0.30390	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.08	3.17	0.35510	1.107000	0.30724	2.782000	0.34741	0.650000	0.52971	0.009000	0.18154	0.985000	0.30750	0.007000	0.07825	0.1145:0.0:0.8855:0.0	8.015	0.29539	673	0.60677	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005040	0.000000	0.005450	0.002924	0.000000	0.000000	0.003067	0.007576	0.05	839.43	107	chr9	135694417	.	G	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=935;ExcessHet=0;FS=0.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=0.64;SOR=0.569	GT:AD:DP:GQ:PL	0/1:53,39:92:99:851,0,1220	9	0	1	0
chr9	135778444	135778444	A	G	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon21:c.A2408G:p.E803G,KCNT1:NM_020822:exon22:c.A2543G:p.E848G	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	9	1508	5	0	0	5	0.00165508	.	.	.	134804	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.783	0.523026545111	0.0022	0.00119808	0.0016	0.0004	0.0024	0	0	0.0028	0	0.0008	0.0011643	180	154602	rs149804567	0.0030	0.0029	0.0031	0.0029	0.0077	0.0029	0.0029	0.0059	0.0053	0.0006	0.0041	0.0002	0	0.0008	0.0077	0.0034	0.0031	0.0008	0.0023	0.0023	0.0022	0.0024	0.0044	0.0021	0.0020	0.0036	0.0033	0.0006	0.0011	0.0044	0.0003	0	0.0010	0.0102	0.0035	0.0024	0.0010	0.001	0.78490	D	0.006	0.70582	D	0.864	0.47514	P	0.437	0.45591	B	0.000000	0.84330	U	0.000000	1	0.81001	D	2.255	0.64187	M	-1.17	0.78199	T	-6.34	0.90937	D	0.694	0.70351	0.067	0.83563	D	0.457	0.78877	T	10	0.021965742	0.00537	T	0.523027	0.95475	D	0.783	0.92787	.	.	0.862925295636	0.86159	0.9382602385644435	0.93807	1.09044902696	0.77412	0.687397241592	0.65332	T	0.310908	0.68283	T	0.0329264	0.56114	T	0.276439	0.86929	D	0.0289352975995204	0.01827	T	0.958604	0.84374	D	0.48417372	0.66153	0.6271475	0.78261	0.6860348	0.77297	0.65704966	0.79918	-9.882	0.73732	D	0.6600228610296959	0.73337	0.660	0.74697	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.873173	0.79859	27.2	0.9991844980658271	0.98586	0.97451	0.74834	D	AEFDBI	0.904012	0.85379	D	0.576795481824302	0.71729	5.69525	0.557929126426649	0.71950	5.733673	0.999998898392798	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.69	4.69	0.58546	9.003000	0.93114	9.087000	0.78733	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.162	0.64988	539	0.73055	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008065	0.021505	0.005848	0.009317	0.000000	0.027778	0.000000	0.003937	0.05	922.43	34	chr9	135778444	.	A	G	922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=385;ExcessHet=0;FS=1.894;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-1.495;SOR=0.874	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1003	9	0	1	0
chr9	135818443	135818443	G	A	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon13:c.C4133T:p.S1378L	.	429	1092	1	0	0	1	0.000457666	.	.	.	2466090	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.018342401993	.	.	5.339e-05	0	0	0.0008	0	0	0	0	1.94e-05	3	154602	rs764373953	3.459e-06	4.788e-06	1.376e-06	5.565e-06	0.0001	1.01e-06	7.4e-07	3.472e-05	1.997e-05	0	0	0	0.0001	0	0	0	1.667e-05	0	2.627e-05	2.626e-05	1.284e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.669	0.04848	T	0.533	0.16522	T	0.082	0.59675	B	0.016	0.44859	B	0.000159	0.49130	D	0.184944	0.999336	0.52935	D	2.4	0.69460	M	2.35	0.16217	T	-1.13	0.29114	N	0.275	0.39254	-1.1299	0.01787	T	0.044	0.18906	T	10	0.0363667	0.01932	T	0.018342	0.40371	T	0.088	0.25558	0.273	0.22369	0.297458270211	0.29361	0.42860163435187854	0.42777	1.24102395754	0.81563	0.449537932873	0.31880	T	0.033007	0.22733	T	-0.441538	0.01267	T	-0.535756	0.18716	T	0.226663686266515	0.21791	T	0.969503	0.89155	D	0.06112475	0.12621	0.068027	0.14152	0.06112475	0.12621	0.068027	0.14152	-3.938	0.22873	T	.	.	0.091	0.13737	B	.;.;.	.;.;.	4.200644	0.63389	24.6	0.99584774969460743	0.73218	0.97946	0.78335	D	AEFDBI	0.681523	0.64485	D	0.139896179363168	0.48332	3.046971	0.208957130190346	0.50345	3.227434	0.999993750908642	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	4.55	0.55429	6.623000	0.74104	8.238000	0.76846	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0721:0.0:0.9279:0.0	14.186	0.65144	577	0.69927	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	421.43	37	chr9	135818443	.	G	A	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.058;DP=375;ExcessHet=0;FS=2.22;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.14;ReadPosRankSum=1.47;SOR=1.018	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	9	0	1	0
chr9	135821534	135821534	G	C	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon11:c.C3127G:p.Q1043E	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0138849898337	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373185407	2.737e-06	2.736e-06	4.084e-06	1.375e-06	3.598e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.018	0.63109	D	0.994	0.66517	D	0.779	0.57244	P	0.000030	0.55875	D	0.123645	0.987307	0.46766	D	2.43	0.70455	M	2.61	0.13095	T	-1.37	0.33998	N	0.425	0.50868	-1.0152	0.25272	T	0.086	0.33298	T	10	0.27536973	0.45094	T	0.013885	0.33612	T	0.151	0.39764	.	.	0.443461608722	0.43965	0.4516497327469113	0.45082	0.201043316276	0.22505	0.417221397161	0.27455	T	0.039143	0.25088	T	-0.0985244	0.36671	T	-0.3793	0.35804	T	0.359305202960968	0.27382	T	0.887511	0.61533	D	0.13587745	0.31520	0.18059091	0.40869	0.13587745	0.31520	0.18059091	0.40868	-7.907	0.60435	D	.	.	0.121	0.41202	B	.;.;.	.;.;.	3.770467	0.54150	23.5	0.22615166021164876	0.00918	0.98468	0.83094	D	AEFDGBI	0.659041	0.63010	D	0.456643581647493	0.64582	4.715893	0.412702796836043	0.62356	4.449575	0.999999999655318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.564000	0.67060	11.723000	0.94851	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	18.071	0.89334	621	0.65931	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1939.43	33	chr9	135821534	.	G	C	1939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=459;ExcessHet=0;FS=4.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.188;SOR=1.131	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	9	0	1	0
chr9	135862569	135862569	G	A	exonic	CAMSAP1	.	nonsynonymous SNV	CAMSAP1:NM_015447:exon5:c.C706T:p.P236S	.	437	1082	3	0	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.537579459794	.	0.000998403	0.0017	0	0	0	0	0.0035	0	0.0009	0.000925	143	154602	rs77279694	0.0033	0.0032	0.0034	0.0032	0.0039	0.0032	0.0032	0.0038	0.0038	0.0006	0.0020	0.0002	0	0.0007	0.0033	0.0039	0.0031	0.0008	0.0024	0.0024	0.0025	0.0023	0.0041	0.0022	0.0021	0.0037	0.0036	0.0005	0.0011	0.0021	0.0003	0	0.0009	0.0068	0.0041	0.0052	0.0006	0.004	0.68238	D	0.014	0.62352	D	1.0	0.90584	D	1.0	0.97372	D	0.000007	0.62929	U	0.065733	0.999998	0.81001	D	2.88	0.83451	M	-3.57	0.94904	D	-6.4	0.91184	D	0.648	0.65930	0.840	0.94901	D	0.861	0.95383	D	10	0.018229902	0.00395	T	0.537579	0.95679	D	0.517	0.79400	.	.	0.802827152195	0.80098	0.6971995334483692	0.69660	0.520938504507	0.49879	0.501556098461	0.39045	T	0.501654	0.82177	D	0.0531347	0.58744	T	0.306855	0.88510	D	0.0435997062277248	0.04348	T	0.973503	0.90460	D	0.49917537	0.67047	0.53853124	0.73331	0.49917537	0.67048	0.53853124	0.73331	-6.869	0.53070	T	.	.	0.101	0.19194	B	.;.	.;.	4.277687	0.65141	24.8	0.99928514940924595	0.99222	0.99507	0.96863	D	AEFGBI	0.828226	0.74736	D	0.728707798225939	0.81514	7.540181	0.672406595711713	0.80287	7.265967	0.999999999999727	0.74766	0.706298	0.61202	0	0.615513	0.52658	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	9.070000	0.93390	11.707000	0.94592	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	18.636	0.91332	900	0.24599	Calmodulin-regulated spectrin-associated protein, CH domain|Calponin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003614	0.010526	0.000000	0.000000	0.000000	0.035714	0.000000	0.000000	0.05	1224.43	34	chr9	135862569	.	G	A	1224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.38;DP=426;ExcessHet=0;FS=0.737;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.519;SOR=0.61	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1410	9	0	1	0
chr9	136011887	136011887	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon6:c.A1393G:p.M465V	.	412	1071	39	0	0	39	0.0178817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0079	0.00858626	0.0168	0.0012	0.0127	0	0.0199	0.0166	0.0072	0.0266	0.0070762	1094	154602	rs61742050	0.0091	0.0090	0.0086	0.0096	0.0208	0.0090	0.0089	0.0199	0.0196	0.0007	0.0049	0.0204	0.0001	0.0039	0.0087	0.0089	0.0091	0.0208	0.0071	0.0071	0.0068	0.0076	0.0199	0.0068	0.0066	0.0167	0.0155	0.0013	0.0077	0.0049	0.0204	0.0002	0.0064	0.0102	0.0101	0.0109	0.0199	0.229	0.18371	T	1.0	0.01155	T	0.01	0.15535	B	0.004	0.10090	B	0.000000	0.84330	D	0.048243	0.958512	0.38079	D	0.895	0.22405	L	0.08	0.61559	T	0.27	0.04306	N	0.19	0.20793	-1.0459	0.15563	T	0.080	0.31824	T	10	0.0054822266	0.00121	T	.	.	.	0.058	0.16647	.	.	0.513503867364	0.50992	0.23018189085281895	0.22933	0.687941237011	0.60407	0.775818347931	0.78298	T	0.161096	0.50521	T	-0.491651	0.00636	T	-0.462743	0.26300	T	0.00460462130183993	0.00049	T	0.720928	0.33404	T	0.18694432	0.40126	0.20599216	0.44794	0.18694432	0.40125	0.20599216	0.44793	-1.213	0.01269	T	.	.	0.086	0.10449	B	.;.	.;.	1.990718	0.25293	16.71	0.95937216529691349	0.28233	0.89977	0.50804	D	AEFBHCI	0.204167	0.33063	N	-0.361306863027207	0.26859	1.46913	-0.176787345977006	0.32391	1.842405	0.99999991120564	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.26897	0.05253	2	0.591603	0.36755	0	.	.	5.23	4.09	0.47038	2.762000	0.47278	3.343000	0.37723	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0797:0.0:0.9203	10.044	0.41345	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009635	0.005208	0.005435	0.017544	0.000000	0.026316	0.021605	0.007576	0.05	2384.43	41	chr9	136011887	.	T	C	2384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.35;DP=572;ExcessHet=0;FS=1.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.562;SOR=0.847	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	9	0	1	0
chr9	136049674	136049674	T	C	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.A848G:p.Y283C	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.285552310052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	0.993	0.65571	D	0.72	0.54860	P	0.000009	0.62929	N	0.067227	0.973611	0.39038	D	2.49	0.72568	M	-0.77	0.73523	T	-2.95	0.61580	D	0.313	0.35514	-0.5248	0.67737	T	0.319	0.68848	T	10	0.37526828	0.53783	T	0.285552	0.90383	D	0.254	0.56428	0.343	0.33626	0.775124561867	0.77305	0.6360748828091852	0.63541	0.861284270804	0.68974	0.753834009171	0.75013	T	0.370359	0.73491	T	-0.0325623	0.47045	T	-0.28455	0.46337	T	0.978369653224945	0.72290	D	0.864914	0.56300	D	0.51301	0.67855	0.4039079	0.64833	0.51301	0.67856	0.4039079	0.64833	-4.541	0.31421	T	.	.	0.165	0.47687	B	.;.	.;.	3.240516	0.44233	21.9	0.99606783354259776	0.74575	0.86584	0.45895	D	AEFGI	0.316209	0.42056	N	0.157169394521113	0.49153	3.118827	0.143521318205641	0.46800	2.920111	0.746145300890868	0.23288	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.33	3.19	0.35720	2.020000	0.40630	1.870000	0.29381	0.654000	0.53741	0.862000	0.30648	0.991000	0.31484	0.979000	0.57723	0.0:0.0904:0.0:0.9096	8.913	0.34725	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	852.43	35	chr9	136049674	.	T	C	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=0.276;SOR=0.813	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1378	9	0	1	0
chr9	136050044	136050044	C	T	exonic	NACC2	.	nonsynonymous SNV	NACC2:NM_144653:exon2:c.G478A:p.V160I	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0912310308267	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918743680	0.0005	0.0006	0.0003	0.0007	0.0034	0.0005	0.0005	0.0030	0.0029	5.901e-05	0.0002	0	2.841e-05	0	0.0029	0.0002	0.0006	0.0034	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	9.709e-05	0.0010	0.0007	4.814e-05	0	6.541e-05	0	0	0	0	0.0002	0.0005	0.0019	0.041	0.41915	D	0.25	0.23707	T	0.273	0.31830	B	0.028	0.21332	B	0.004648	0.33526	N	0.285394	0.97686	0.25348	N	1.39	0.34934	L	-0.08	0.63911	T	-0.31	0.12099	N	0.072	0.04547	-1.0460	0.15534	T	0.090	0.34463	T	10	0.004942864	0.00106	T	0.091231	0.75667	D	0.033	0.08068	0.235	0.16457	0.524271286562	0.52073	0.22756173120962314	0.22671	0.548523735457	0.51787	0.656147360802	0.60859	T	0.189622	0.54391	T	-0.233462	0.16194	T	-0.573129	0.15164	T	0.0586161162775522	0.06948	T	0.70443	0.31478	T	0.04898303	0.08626	0.0478032	0.06966	0.04898303	0.08626	0.0478032	0.06965	-4.583	0.31957	T	.	.	0.094	0.14523	B	.;.	.;.	1.725435	0.21960	15.42	0.98562073668677874	0.42986	0.90389	0.51526	D	AEFGI	0.198319	0.32518	N	-0.696403685386147	0.16123	0.8187327	-0.646885206560569	0.18295	0.9767142	0.996096849552183	0.34520	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	4.45	2.53	0.29594	2.094000	0.41344	2.117000	0.30696	0.579000	0.29447	0.958000	0.33488	0.022000	0.20871	0.140000	0.19946	0.0:0.762:0.1526:0.0854	8.684	0.33389	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1103.43	103	chr9	136050044	.	C	T	1103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=420;ExcessHet=0;FS=0.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.73;SOR=0.612	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,952	9	0	1	0
chr9	136407206	136407206	G	A	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon3:c.C539T:p.A180V,ENTR1:NM_006643:exon4:c.C689T:p.A230V,ENTR1:NM_001039707:exon5:c.C758T:p.A253V	.	427	1090	5	0	0	5	0.00228833	.	.	.	3245417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00476509856626	0.0002	0.000599042	0.0003	0	0.0006	0	0	0.0002	0	0.0011	0.0002781	43	154602	rs199971666	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	2.989e-05	0.0007	0.0021	0	0	0.0007	8.365e-05	0.0001	0.0012	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0001	0.0011	0.0009	4.811e-05	0	0.0002	0.0023	0	0	0.0034	0.0001	0	0.0021	0.057	0.37966	T	0.18	0.36365	T	0.021	0.21875	B	0.009	0.17743	B	0.324891	0.14210	N	0.705638	1	0.08975	N	.	.	.	2.37	0.34253	T	-1.33	0.54546	N	0.233	0.26233	-1.0337	0.19268	T	0.069	0.28247	T	10	0.0063961744	0.00145	T	0.004765	0.11879	T	0.021	0.04004	.	.	0.151104730317	0.14643	0.26413123652624776	0.26326	0.0172583685395	0.01676	0.449645698071	0.31896	T	0.008629	0.36561	T	-0.563739	0.00241	T	-0.638897	0.09749	T	0.0307205749635659	0.02102	T	0.768323	0.39714	T	0.023245666	0.01048	0.04908254	0.07425	0.023245666	0.01048	0.04908254	0.07424	-4.34	0.28734	T	.	.	0.093	0.22245	B	.;.;.;.	.;.;.;.	1.606505	0.20534	14.79	0.98967005005255282	0.49442	0.14094	0.18219	N	AEFGBI	0.127301	0.24460	N	-0.559263053850874	0.20194	1.062788	-0.512255972100034	0.21820	1.182225	0.999993286689988	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	3.54	0.39650	2.145000	0.41830	1.298000	0.25456	0.676000	0.76740	0.022000	0.19841	0.001000	0.17328	0.040000	0.14268	0.1645:0.0:0.8355:0.0	10.543	0.44234	912	0.21483	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.005051	0.000000	0.000000	0.000000	0.008621	0.003067	0.003788	0.05	887.43	42	chr9	136407206	.	G	A	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=524;ExcessHet=0;FS=3.06;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.392;SOR=0.416	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,102,1530	9	0	1	0
chr9	136407874	136407874	C	G	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon2:c.G135C:p.K45N,ENTR1:NM_006643:exon3:c.G285C:p.K95N,ENTR1:NM_001039707:exon4:c.G354C:p.K118N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0247617259153	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238737535	5.474e-06	5.472e-06	5.446e-06	5.503e-06	7.197e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.197e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.002	0.72154	D	0.015	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.000004	0.62929	D	0.102092	0.999418	0.46970	D	.	.	.	1.92	0.40469	T	-1.44	0.73893	N	0.637	0.64989	-0.6079	0.64491	T	0.247	0.61647	T	10	0.31194595	0.48659	T	0.024762	0.47746	T	0.177	0.44549	0.467	0.53891	0.456368778954	0.45261	0.26924859424591646	0.26837	0.134625741518	0.15165	0.574035763741	0.49247	T	0.093106	0.60306	T	-0.161786	0.26486	T	-0.470171	0.25497	T	0.9530109167099	0.63928	D	0.877312	0.59062	D	0.4518074	0.64155	0.34925577	0.60553	0.4518074	0.64156	0.34925577	0.60553	-4.76	0.38522	T	.	.	0.743	0.79235	P	.;.;.;.	.;.;.;.	3.645506	0.51706	23.1	0.99831882302454122	0.91370	0.92390	0.55601	D	AEFGBI	0.289580	0.40119	N	0.562690822164129	0.70858	5.563735	0.511204812711106	0.68741	5.262357	0.999999999988202	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	1.329000	0.33375	1.048000	0.23614	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.635000	0.32288	0.0:1.0:0.0:0.0	16.530	0.84204	911	0.21964	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1711.14	35	chr9	136407874	.	C	G	1711.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.17;DP=424;ExcessHet=0.2348;FS=5.377;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.16;SOR=1.174	GT:AD:DP:GQ:PL	0/1:37,29:66:99:711,0,835	8	0	2	0
chr9	136474332	136474332	T	C	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.A3284G:p.N1095S,SEC16A:NM_014866:exon3:c.A3284G:p.N1095S	.	414	1107	1	0	0	1	0.000451467	.	.	.	2762644	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00457528888553	.	0.000199681	0.0001	0	0.0006	0	0	0	0	0.0005	0.0001035	16	154602	rs551567130	7.74e-05	7.798e-05	6.269e-05	9.226e-05	0.0007	6.541e-05	6.144e-05	0.0006	0.0005	0	0.0006	0	0	0	0	1.979e-05	3.315e-05	0.0007	6.565e-05	6.561e-05	5.139e-05	8.055e-05	0.0015	3.514e-05	2.614e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	0	0	0.0015	0.206	0.20759	T	0.625	0.12386	T	0.01	0.15535	B	0.005	0.11217	B	0.208289	0.03368	N	1.453100	1	0.08975	N	.	.	.	2.0	0.21473	T	-0.97	0.28906	N	0.117	0.10626	-1.0008	0.29688	T	0.032	0.13811	T	10	0.012262523	0.00264	T	0.004575	0.11283	T	0.024	0.04979	0.103	0.01643	0.213499824651	0.20940	0.10691814632071148	0.10621	0.0570264657902	0.06303	0.342351973057	0.16790	T	0.015702	0.13121	T	-0.612306	0.00123	T	-0.745048	0.03683	T	0.0133600236830753	0.00241	T	0.666933	0.27600	T	0.02931268	0.02406	0.030320127	0.01473	0.02931268	0.02405	0.030320127	0.01472	-1.861	0.02697	T	.	.	0.092	0.16451	B	.;.;.;.	.;.;.;.	-0.247628	0.02856	0.402	0.55626583461896661	0.05382	0.08240	0.14194	N	AEFGBHCI	0.048783	0.08360	N	-1.22845185955608	0.04592	0.2075531	-1.2768842196142	0.04744	0.2245137	0.999999665833298	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.76	-3.97	0.03821	0.189000	0.16845	-0.409000	0.09359	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.4259:0.1124:0.4617	8.355	0.31488	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2088.43	78	chr9	136474332	.	T	C	2088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=602;ExcessHet=0;FS=0.582;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.474;SOR=0.639	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	9	0	1	0
chr9	136475059	136475059	G	A	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.C2557T:p.H853Y,SEC16A:NM_014866:exon3:c.C2557T:p.H853Y	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00641381404341	.	.	9.178e-05	0	8.714e-05	0	0	0.0001	0	0.0001	7.12e-05	11	154602	rs779264673	6.842e-05	6.84e-05	7.352e-05	6.327e-05	0.0002	5.714e-05	5.327e-05	0.0001	8.648e-05	2.987e-05	0	0.0002	2.519e-05	0	0.0002	6.925e-05	0	0.0002	3.947e-05	3.941e-05	5.143e-05	2.694e-05	7.352e-05	1.717e-05	1.13e-05	2.847e-05	1.859e-05	0	0	0	0.0003	0	0	0	7.352e-05	0	0	0.023	0.48186	D	0.394	0.41742	T	0.019	0.17989	B	0.004	0.10090	B	0.139868	0.02877	N	1.705520	1	0.08975	N	.	.	.	1.93	0.22881	T	-0.97	0.25770	N	0.25	0.28264	-0.9951	0.31272	T	0.033	0.13986	T	10	0.046919078	0.03944	T	0.006414	0.16870	T	0.011	0.01250	0.143	0.04650	0.0934897674506	0.08844	0.08923660628499547	0.08856	0.074636563981	0.08373	0.244805648923	0.03241	T	0.017566	0.14308	T	-0.475072	0.00791	T	-0.660505	0.08233	T	0.0257524115862366	0.01373	T	0.415758	0.10904	T	0.05918749	0.11998	0.06859755	0.14347	0.05918749	0.11998	0.06859755	0.14347	-3.626	0.18233	T	.	.	0.092	0.17402	B	.;.;.;.	.;.;.;.	0.211282	0.05949	2.388	0.93172668814172377	0.22830	0.29272	0.23777	N	AEFDGBCI	0.085751	0.17384	N	-1.25933293765268	0.04178	0.1880765	-1.26118393977738	0.04967	0.235609	0.999999920682013	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	-3.26	0.04750	-0.641000	0.05531	-2.342000	0.03876	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.0:0.2044:0.4889:0.3067	7.327	0.25735	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1786.43	78	chr9	136475059	.	G	A	1786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.236;DP=653;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-2.477;SOR=0.575	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr9	136506947	136506947	C	A	exonic	NOTCH1	.	nonsynonymous SNV	NOTCH1:NM_017617:exon23:c.G3670T:p.D1224Y	Adams-Oliver syndrome 5, Autosomal dominant;Aortic valve disease 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.777	0.334878674417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	-3.77	0.95595	D	-7.98	0.96395	D	0.937	0.94314	1.022	0.97565	D	0.909	0.96976	D	10	0.9578195	0.95159	D	0.334879	0.91854	D	0.777	0.92542	0.489	0.57415	0.956377911577	0.95591	.	.	1.3271011008	0.83577	0.573227643967	0.49133	T	0.831514	0.95982	D	0.420475	0.91046	D	0.366207	0.90934	D	0.99607652425766	0.88617	D	0.942906	0.78488	D	0.90211755	0.91573	0.69513464	0.82051	0.90211755	0.91574	0.69513464	0.82052	-12.474	0.87083	D	.	.	.	.	.	.	.	4.273899	0.65055	24.8	0.9886121318070048	0.47476	0.99335	0.94660	D	AEFGBI	0.870718	0.79180	D	0.660951889362184	0.77078	6.606194	0.596436596814421	0.74683	6.179054	0.999999999999527	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.23	5.23	0.72570	7.802000	0.84533	5.911000	0.51023	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.116000	0.19000	0.0:1.0:0.0:0.0	17.788	0.88454	934	0.15400	EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	976.43	35	chr9	136506947	.	C	A	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.75;DP=365;ExcessHet=0;FS=1.909;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.78;ReadPosRankSum=0.111;SOR=1.426	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,954	9	0	1	0
chr9	136672057	136672057	G	C	exonic	EGFL7	.	nonsynonymous SNV	EGFL7:NM_201446:exon8:c.G768C:p.Q256H,EGFL7:NM_016215:exon10:c.G768C:p.Q256H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	0.569121305798	0.0002	0.000199681	0.0003	0	0	0	0	0.0007	0	0	8.41e-05	13	154602	rs201378205	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0006	0.0008	0.0008	6.318e-05	0.0005	0	0	0	0.0007	0.0008	0.0006	0.0003	0.0005	0.0005	0.0005	0.0006	0.0029	0.0004	0.0004	0.0022	0.0020	9.618e-05	0	0.0029	0	0	0	0	0.0005	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999959	0.52396	D	2.545	0.74286	M	-2.63	0.90083	D	-3.71	0.70674	D	0.805	0.81162	0.642	0.92438	D	0.798	0.93146	D	10	0.63508695	0.68735	D	0.569121	0.96097	D	0.725	0.90324	0.221	0.14371	0.981343182552	0.98114	0.8137633805223535	0.81332	0.516632788444	0.49541	0.76279515028	0.76347	T	0.628084	0.88437	D	-0.00447707	0.51034	T	0.11217	0.77716	D	0.159316837787628	0.17821	T	0.905909	0.66829	D	0.63945407	0.74802	0.58889145	0.76151	0.63945407	0.74803	0.58889145	0.76152	-9.264	0.69381	D	.	.	0.866	0.80671	P	.;.;.;.	.;.;.;.	3.981192	0.58523	24.0	0.99682343565892306	0.79373	0.99998	0.99999	D	AEFDGBHCI	0.749220	0.69072	D	0.45136281822088	0.64279	4.679032	0.360150212465656	0.59122	4.087428	0.99999999718253	0.74766	0.712529	0.81865	0	0.600433	0.49495	0	0.635938	0.45252	0	0.756233	0.99697	0	.	.	4.45	2.53	0.29594	2.489000	0.44944	5.400000	0.48508	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1725:0.0:0.8275:0.0	10.193	0.42213	952	0.10565	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1037.43	33	chr9	136672057	.	G	C	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.82;DP=383;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.612;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,943	9	0	1	0
chr9	136676978	136676978	G	A	exonic	AGPAT2	.	nonsynonymous SNV	AGPAT2:NM_001012727:exon3:c.C475T:p.R159C,AGPAT2:NM_006412:exon3:c.C475T:p.R159C	Lipodystrophy, congenital generalized, type 1, Autosomal recessive	0	1476	45	1	0	47	0.0156719	.	.	.	207659	not_specified|not_provided|Congenital_generalized_lipodystrophy_type_1|Monogenic_diabetes|AGPAT2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012071,MedGen:C1720862,OMIM:608594,Orphanet:528|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.583	0.376081266076	0.0042	0.00299521	0.0055	0.0006	0.0045	0	0.0023	0.0069	0.0090	0.0079	0.0052522	812	154602	rs142993240	0.0052	0.0051	0.0051	0.0054	0.0200	0.0051	0.0051	0.0170	0.0158	0.0009	0.0053	0.0113	0	0.0021	0.0200	0.0052	0.0062	0.0075	0.0045	0.0045	0.0045	0.0045	0.0081	0.0042	0.0041	0.0061	0.0055	0.0014	0	0.0057	0.0102	0	0.0014	0.0274	0.0062	0.0081	0.0081	0.04	0.42199	D	0.133	0.34359	T	0.994	0.67487	D	0.827	0.61233	P	0.293250	0.14730	N	0.654070	0.98209	0.39852	D	1.885	0.50048	L	-3.25	0.93532	D	-1.31	0.39119	N	0.334	0.42345	0.563	0.91414	D	0.794	0.93025	D	10	0.013234198	0.00281	T	0.376081	0.92861	D	0.583	0.83249	.	.	0.98728440208	0.98714	0.550509138554867	0.54976	0.675783368987	0.59728	0.304822176695	0.11124	T	0.634862	0.88730	D	-0.242284	0.15060	T	-0.116936	0.62053	T	0.0146335427042857	0.00302	T	0.835916	0.50694	T	0.27577108	0.50640	0.1912488	0.42572	0.36025938	0.57856	0.18649092	0.41824	-4.821	0.75123	T	.	.	0.199	0.45653	B	.;.;.	.;.;.	4.247194	0.64440	24.7	0.99853759363083971	0.93279	0.84552	0.43635	D	AEFDGBHCI	0.891524	0.82756	D	0.394959614047973	0.61147	4.312139	0.283211928081487	0.54560	3.62051	0.999983192290523	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.570548	0.19454	0	0.741806	0.99463	0	.	.	4.75	2.66	0.30672	2.855000	0.48032	2.028000	0.30240	0.676000	0.76740	1.000000	0.71638	0.638000	0.25900	0.318000	0.24924	0.0:0.1308:0.3813:0.488	6.900	0.23456	952	0.10565	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase;Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase|1-acyl-sn-glycerol-3-phosphate acyltransferase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.010101	0.016349	0.011696	0.000000	0.008621	0.009146	0.003788	0.05	747.43	33	chr9	136676978	.	G	A	747.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.777;DP=397;ExcessHet=0;FS=3.152;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.236;SOR=1.086	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1120	9	0	1	0
chr9	136748446	136748446	A	G	exonic	LCN6	.	nonsynonymous SNV	LCN6:NM_198946:exon1:c.T38C:p.V13A	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00510152431081	0.0028	.	0.0017	0.0009	0.0002	0	0.0009	0.0027	0	0.0007	0.0017464	270	154602	rs147978470	0.0041	0.0041	0.0043	0.0038	0.0050	0.0040	0.0040	0.0048	0.0048	0.0006	0.0004	0.0009	0	0.0005	0.0002	0.0050	0.0048	0.0008	0.0022	0.0022	0.0025	0.0019	0.0036	0.0020	0.0019	0.0032	0.0030	0.0011	0.0307	0.0003	0.0017	0	0.0002	0	0.0036	0.0014	0.0002	0.46	0.08736	T	0.176	0.29843	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.51	0.30937	T	-0.56	0.17003	N	0.019	0.00279	-0.9746	0.36213	T	0.034	0.14726	T	9	0.0031214058	0.00052	T	0.005102	0.12939	T	0.004	0.00165	.	.	0.0401082797425	0.02173	0.6377856446495276	0.63712	0.0513725218278	0.05653	0.680624783039	0.64358	T	0.002603	0.01994	T	-0.719362	0.00028	T	-0.804861	0.01784	T	0.000630571215879172	0.00006	T	0.234876	0.03235	T	0.017448239	0.00273	0.06261858	0.12277	0.017448239	0.00273	0.06261858	0.12277	-3.618	0.18118	T	.	.	0.080	0.07554	B	.	.	-0.258311	0.02805	0.386	0.79498365085908973	0.12769	0.00501	0.02358	N	AEFDBI	0.035299	0.04519	N	-1.50258472105728	0.01833	0.08036073	-1.57650921329427	0.01800	0.08192808	0.987811035872071	0.31348	0.446893	0.09132	0	0.563428	0.19063	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.67	-2.76	0.05547	-1.865000	0.01741	-2.306000	0.03922	-0.758000	0.03527	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2659:0.1865:0.5476:0.0	6.151	0.19525	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	467.43	37	chr9	136748446	.	A	G	467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=371;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.222;SOR=0.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr9	136837582	136837582	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon9:c.C1049T:p.S350L,RABL6:NM_024718:exon9:c.C1046T:p.S349L	.	1	1520	1	0	0	1	0.000328839	.	.	.	2288907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0598080362457	.	.	6.189e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs747000484	3.627e-05	3.694e-05	3.874e-05	3.376e-05	0.0017	2.816e-05	2.55e-05	0.0009	0.0006	6.053e-05	0	0	0	0	0.0017	3.27e-05	0.0001	0	3.286e-05	3.283e-05	5.139e-05	1.345e-05	0.0001	1.261e-05	7.98e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	4.411e-05	0	0	0.275	0.68238	T	0.083	0.50226	T	0.0	0.02946	B	0.001	0.04355	B	0.897091	0.07332	U	1.073890	1	0.08975	N	1.1	0.28011	L	-0.17	0.65563	T	-2.43	0.53258	N	0.15	0.16447	-0.9976	0.30590	T	0.142	0.46367	T	10	0.08696014	0.14832	T	0.059808	0.67788	D	0.063	0.18251	0.199	0.11247	0.117191471859	0.11215	0.1630423553228202	0.16224	0.00769776987941	0.00687	0.546117126942	0.45309	T	0.046378	0.27407	T	-0.209683	0.19424	T	-0.538971	0.18397	T	0.0752077400684357	0.09364	T	0.678032	0.32570	T	0.04465022	0.07173	0.05811588	0.10685	0.04465022	0.07172	0.05811588	0.10684	-5.338	0.40318	T	.	.	0.083	0.19639	B	.;.;.;.	.;.;.;.	1.054944	0.14362	10.94	0.99631418712139408	0.76081	0.24254	0.22336	N	AEFGBCI	0.159780	0.28563	N	-0.799265267380252	0.13329	0.6558697	-0.801099275902812	0.14470	0.7561523	0.998462153399687	0.37014	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.57	1.59	0.22622	2.128000	0.41668	0.498000	0.18967	-0.569000	0.04791	0.023000	0.19925	0.002000	0.18203	0.018000	0.11154	0.2189:0.5149:0.0:0.2662	2.824	0.05143	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	672.43	68	chr9	136837582	.	C	T	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.242;DP=570;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.74;MQRankSum=1.17;QD=8.3;ReadPosRankSum=0.841;SOR=0.734	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	9	0	1	0
chr9	136839281	136839281	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon12:c.C1556T:p.P519L,RABL6:NM_024718:exon12:c.C1553T:p.P518L	.	.	.	.	.	.	.	.	.	.	.	700903	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.132	.	0.0036	0.00379393	0.0013	0.0150	0.0003	0	0	0.0002	0.0015	0	0.001009	156	154602	rs144926317	0.0003	0.0003	0.0004	0.0003	0.0115	0.0003	0.0003	0.0105	0.0102	0.0115	0.0005	0.0007	0	0	0.0030	2.251e-05	0.0007	0	0.0035	0.0035	0.0038	0.0033	0.0122	0.0033	0.0032	0.0113	0.0110	0.0122	0	0.0014	0.0012	0	0	0	2.94e-05	0.0019	0	0.49	0.08188	T	0.073	0.53426	T	0.979	0.62325	D	0.778	0.63100	P	0.397778	0.13167	U	0.716271	0.999998	0.20152	N	2.39	0.68882	M	-0.09	0.64086	T	-1.83	0.42957	N	0.194	0.21319	-0.8402	0.52633	T	0.239	0.60667	T	10	0.004451871	0.00091	T	.	.	.	0.132	0.35948	.	.	0.425592409813	0.42174	0.14868552859551176	0.14790	0.00750058978399	0.00664	0.261873751879	0.05116	T	0.019611	0.15591	T	-0.486132	0.00683	T	-0.460683	0.26526	T	0.0102703231353284	0.00140	T	0.443756	0.12347	T	0.027661093	0.01991	0.03117527	0.01671	0.027661093	0.01990	0.03117527	0.01670	-4.737	0.34157	T	.	.	0.069	0.03964	B	.;.	.;.	1.249119	0.16459	12.55	0.99274715009202807	0.57696	0.45759	0.27609	N	AEFDGBHCI	0.127755	0.24526	N	-0.314787316046395	0.28585	1.57794	-0.558383478600892	0.20583	1.109634	0.999867305399311	0.44398	0.67177	0.52595	0	0.643519	0.57511	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.02	2.07	0.26004	-0.034000	0.12176	0.975000	0.23085	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.243:0.757:0.0:0.0	8.052	0.29747	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1866.43	33	chr9	136839281	.	C	T	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=431;ExcessHet=0;FS=2.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.12;ReadPosRankSum=-1.876;SOR=0.924	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,952	9	0	1	0
chr9	136855010	136855010	G	C	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon10:c.G1097C:p.G366A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00839692218544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.33254	T	0.317	0.19480	T	0.0	0.02946	B	0.001	0.04355	B	0.168465	0.03092	N	1.766790	1	0.08975	N	1.73	0.44655	L	4.49	0.02049	T	-0.8	0.26200	N	0.173	0.18512	-0.9292	0.44256	T	0.006	0.01907	T	10	0.09069127	0.15821	T	0.008397	0.22231	T	0.063	0.18251	0.346	0.34112	0.159798565429	0.15598	0.2268546161320012	0.22600	0.0238469498928	0.02421	0.50073826313	0.38931	T	0.004319	0.03729	T	-0.230877	0.16532	T	-0.569416	0.15504	T	0.149861774640813	0.17092	T	0.351965	0.07883	T	0.04884103	0.08576	0.058955293	0.10984	0.04884103	0.08575	0.058955293	0.10984	-6.371	0.49283	T	.	.	0.083	0.08997	B	.;.	.;.	0.269793	0.06474	2.951	0.27351294700278067	0.01354	0.10799	0.16200	N	AEFGBCI	0.095398	0.19274	N	-1.18906055216592	0.05165	0.2347983	-1.26026185948216	0.04981	0.236276	0.998669337287796	0.37413	0.421363	0.06395	0	0.550933	0.16991	0	0.536957	0.11973	0	0.562822	0.20929	0	.	.	4.65	-3.16	0.04897	-0.477000	0.06663	0.829000	0.21929	0.590000	0.31872	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.3564:0.2989:0.1936:0.1511	0.930	0.01250	964	0.07719	.;MAM domain|MAM domain|MAM domain|MAM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	570.43	37	chr9	136855010	.	G	C	570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.736;DP=276;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.46;SOR=0.573	GT:AD:DP:GQ:PL	0/0:24,0:24:54:0,54,810	9	0	1	0
chr9	136855599	136855599	G	T	exonic	MAMDC4	.	nonsynonymous SNV	MAMDC4:NM_206920:exon12:c.G1451T:p.G484V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540	0.321975692392	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1404362104	1.397e-06	1.368e-06	1.383e-06	1.411e-06	3.029e-05	2.3e-07	9e-08	.	.	3.029e-05	0	0	0	0	0	0	0	1.215e-05	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.959	0.55135	D	0.811	0.58656	P	0.001380	0.39242	N	0.112881	0.999139	0.51612	D	3.5	0.92762	M	-2.55	0.89561	D	-6.19	0.92042	D	0.741	0.74098	0.642	0.92438	D	0.801	0.93259	D	10	0.8059901	0.79938	D	0.321976	0.91501	D	0.540	0.80782	0.396	0.42262	0.844865960073	0.84338	0.6665575908930276	0.66593	0.186328379194	0.20943	0.553474068642	0.46347	T	0.245121	0.61437	T	0.140	0.68315	D	-0.0368205	0.67915	D	0.983557343482971	0.75178	D	0.768423	0.39759	T	0.42022192	0.62106	0.42124954	0.66063	0.42022192	0.62107	0.42124954	0.66063	-14.101	0.93380	D	.	.	0.525	0.65688	A	.;.	.;.	3.011707	0.40274	21.1	0.99483052020610385	0.67014	0.79385	0.39327	D	AEFBHCI	0.258813	0.37728	N	0.105678843525675	0.46726	2.90874	-0.0480163793655533	0.37576	2.202007	0.993314387479627	0.33167	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	4.76	2.86	0.32427	1.817000	0.38640	3.534000	0.38969	-0.286000	0.06345	0.955000	0.33325	1.000000	0.68203	0.060000	0.15972	0.0:0.3592:0.6408:0.0	12.270	0.54017	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002543	0.000000	0.005450	0.000000	0.000000	0.000000	0.003086	0.003788	0.05	1437.43	36	chr9	136855599	.	G	T	1437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.302;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.519;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1245:.	9	0	1	0
chr9	136855620	136855620	G	A	splicing	MAMDC4	NM_206920:exon12:c.1471+1G>A	.	.	.	409	1096	16	1	0	18	0.0081448	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00179712	0.0032	0	0.0032	0	0.0039	0.0013	0.0079	0.0097	0.0012807	198	154602	rs201767253	0.0013	0.0013	0.0011	0.0015	0.0097	0.0013	0.0013	0.0092	0.0089	0.0002	0.0009	3.964e-05	0	0.0008	0.0032	0.0009	0.0012	0.0097	0.0008	0.0008	0.0007	0.0009	0.0089	0.0007	0.0006	0.0068	0.0061	0.0001	0	0.0005	0	0	0.0008	0	0.0008	0.0009	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.195735	0.21422	T	-0.0473975	0.67201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.632080	0.92682	32	0.99225599677801968	0.56057	0.89614	0.50191	D	AEFBHCI	.	.	.	0.924474549469722	0.92907	11.70093	0.722570702545955	0.84095	8.196856	0.999942106450456	0.47345	0.092769	0.02424	0	0.130567	0.03505	0	0.068591	0.01938	0	0.083433	0.02327	0	0.963142	0.66986	4.76	4.76	0.60189	4.889000	0.62862	11.250000	0.90713	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	14.499	0.67289	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1365.43	36	chr9	136855620	.	G	A	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.976;DP=419;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.559;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1245:.	9	0	1	0
chr9	136945952	136945952	G	A	exonic	C8G	.	nonsynonymous SNV	C8G:NM_000606:exon3:c.G299A:p.R100H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00796889482111	0.0002	.	8.046e-05	0.0003	0	0	0	9.046e-05	0	0	1.29e-05	2	154602	rs374701186	6.361e-06	1.779e-05	1.399e-06	1.143e-05	3.083e-05	2.99e-06	2.17e-06	2.67e-06	1.72e-06	3.083e-05	0	0	0	0	0	6.431e-06	0	1.233e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.829e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.829e-05	0	0	0	0	0	0	0	0	0	0.073	0.34800	T	0.023	0.57104	D	0.971	0.57185	D	0.653	0.52567	P	0.006928	0.31707	N	0.199212	1	0.08975	N	2.555	0.74557	M	3.14	0.07920	T	-2.21	0.50337	N	0.418	0.45803	-1.1000	0.04091	T	0.037	0.16116	T	10	0.17517504	0.32436	T	0.007969	0.21136	T	0.070	0.20419	.	.	0.170165803431	0.16609	0.47561722671581785	0.47480	0.123648921173	0.13916	0.497201234102	0.38438	T	0.008394	0.07715	T	-0.182932	0.23300	T	-0.500546	0.22291	T	0.25992152094841	0.23311	T	0.814719	0.46890	T	0.3298691	0.55460	0.2774218	0.53695	0.3298691	0.55460	0.2774218	0.53694	-10.249	0.75389	D	.	.	0.114	0.22717	B	.;.	.;.	3.363559	0.46445	22.3	0.99899587644113208	0.97199	0.05081	0.10877	N	AEFGBI	0.551489	0.56354	D	0.142462049673514	0.48455	3.057612	0.0569386518438389	0.42407	2.564542	0.999988872066677	0.51787	0.608966	0.35542	0	0.547309	0.14657	0	0.769059	0.98459	0	0.562822	0.20929	0	.	.	4.79	3.62	0.40616	0.179000	0.16653	-0.511000	0.08745	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.730000	0.35099	0.1334:0.0:0.8666:0.0	10.870	0.46086	878	0.29785	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	35	chr9	136945952	.	G	A	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.787;DP=411;ExcessHet=0;FS=2.013;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.419;SOR=0.453	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1191	9	0	1	0
chr9	136994689	136994689	G	A	exonic	CLIC3	.	nonsynonymous SNV	CLIC3:NM_004669:exon6:c.C703T:p.P235S	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0003	0.00798722	0.0035	0.0001	0.0003	0.0408	0.0003	5.853e-05	0.0030	0.0011	0.0026584	411	154602	rs138947887	0.0008	0.0008	0.0008	0.0008	0.0205	0.0008	0.0008	0.0193	0.0188	5.996e-05	0.0001	0	0.0205	9.648e-05	0.0006	9.999e-05	0.0029	0.0014	0.0012	0.0012	0.0011	0.0012	0.0283	0.0010	0.0010	0.0246	0.0232	9.618e-05	0	0.0002	0	0.0283	0	0	0.0002	0.0014	0.0025	0.01	0.56456	D	0.031	0.53788	D	0.58	0.38813	P	0.14	0.33554	B	0.025072	0.26152	N	0.396328	0.925571	0.36809	D	1.845	0.48678	L	1.81	0.25182	T	-0.58	0.17417	N	0.283	0.32037	-1.0814	0.07079	T	0.028	0.11971	T	10	0.0040216744	0.00078	T	.	.	.	0.043	0.11576	.	.	0.53787198782	0.53439	0.4405914681335646	0.43976	1.08037687024	0.77121	0.41788816452	0.27546	T	0.005232	0.04677	T	-0.537909	0.00345	T	-0.518285	0.20469	T	0.0192769943592699	0.00633	T	0.534647	0.17878	T	0.06779757	0.14714	0.053729076	0.09108	0.06779757	0.14713	0.053729076	0.09107	-3.841	0.21418	T	.	.	0.077	0.06525	B	.	.	3.290967	0.45137	22.1	0.99225387713268465	0.56026	0.61976	0.31643	D	AEFDGBHCI	0.201029	0.32772	N	-0.19398850174953	0.33384	1.89338	-0.245906466851072	0.29913	1.67978	0.999994586235587	0.74766	0.646311	0.45356	0	0.550933	0.16991	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	3.29	1.26	0.20534	2.387000	0.44043	4.358000	0.43109	0.526000	0.24426	0.996000	0.39380	1.000000	0.68203	0.431000	0.27472	0.0935:0.3102:0.5962:0.0	7.954	0.29191	976	0.04745	Glutathione S-transferase, C-terminal-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	1012.43	34	chr9	136994689	.	G	A	1012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.415;DP=380;ExcessHet=0;FS=3.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.33;ReadPosRankSum=1.24;SOR=0.32	GT:AD:DP:GQ:PL	0/1:20,42:62:99:1024,0,409	9	0	1	0
chr9	137022743	137022743	G	A	exonic	ABCA2	.	nonsynonymous SNV	ABCA2:NM_001606:exon5:c.C398T:p.A133V,ABCA2:NM_212533:exon5:c.C488T:p.A163V	.	420	1095	7	0	0	7	0.00318616	.	.	.	3210750	ABCA2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.153	.	.	0.0109824	0.0103	0	0.0006	0	0	0.0001	0.0021	0.0625	0.0056726	877	154602	rs551444612	0.0030	0.0030	0.0016	0.0044	0.0492	0.0029	0.0029	0.0480	0.0475	8.995e-05	2.266e-05	0	7.608e-05	0	0.0011	2.614e-05	0.0027	0.0492	0.0016	0.0016	0.0008	0.0024	0.0478	0.0014	0.0013	0.0428	0.0408	2.405e-05	0	6.531e-05	0	0	0	0	5.88e-05	0	0.0478	0.107	0.31532	T	0.238	0.26883	T	0.059	0.23051	B	0.01	0.14941	B	0.003440	0.00962	U	7.488640	1	0.08975	N	0	0.06538	N	-2.23	0.87116	D	-0.24	0.10833	N	0.118	0.16725	-0.6776	0.61483	T	0.472	0.79695	T	10	0.0021557212	0.00031	T	.	.	.	0.153	0.40148	.	.	0.326837869879	0.32287	0.45676338605830935	0.45594	0.131275834207	0.14802	0.56387925148	0.47814	T	0.30898	0.68104	T	-0.510571	0.00498	T	-0.46967	0.25551	T	0.019357977659414	0.00641	T	0.69603	0.30552	T	0.018504947	0.00372	0.032938555	0.02107	0.018504947	0.00372	0.032938555	0.02107	-4.43	0.30375	T	.	.	0.107	0.24430	B	.;.;.;.	.;.;.;.	1.513630	0.19439	14.27	0.98669726419817561	0.44456	0.08904	0.14761	N	AEFGBI	0.154966	0.28008	N	-0.882288864929286	0.11264	0.5426504	-0.934567794485916	0.11282	0.5737955	0.999910686964956	0.45857	0.646311	0.45356	0	0.588066	0.40923	0	0.459711	0.06710	0	0.699875	0.68795	0	.	.	4.25	0.913	0.18482	0.078000	0.14615	1.085000	0.23927	-0.168000	0.11412	0.000000	0.06391	0.002000	0.18203	0.074000	0.16894	0.2008:0.2212:0.4557:0.1223	2.468	0.04279	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008612	0.005051	0.000000	0.005952	0.000000	0.008621	0.006173	0.037879	0.05	1512.43	96	chr9	137022743	.	G	A	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=499;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-2.038;SOR=0.548	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1426	9	0	1	0
chr9	137077561	137077561	G	A	exonic	UAP1L1	.	nonsynonymous SNV	UAP1L1:NM_207309:exon1:c.G29A:p.R10Q	.	.	.	.	.	.	.	.	.	.	.	3341139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0634342366896	.	.	0.0001	0	0	0.0081	.	0	0	0	6.5e-06	1	154602	rs772208245	8.36e-05	0.0001	8.876e-05	7.829e-05	0.0034	7.027e-05	6.566e-05	0.0028	0.0026	0	0	0	0.0034	0	0	4.998e-06	0.0002	7.257e-05	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	0	0	0	0	0.0062	0	0	1.489e-05	0	0.0002	0.159	0.23813	T	0.152	0.32249	T	0.033	0.20350	B	0.002	0.06944	B	.	.	.	.	0.988696	0.24382	N	1.6	0.40776	L	2.24	0.17923	T	-0.9	0.24244	N	0.097	0.07811	-1.0588	0.12058	T	0.031	0.13286	T	9	0.006783426	0.00154	T	0.063434	0.68966	D	0.027	0.05988	0.421	0.46365	0.144782658237	0.14088	0.525313791611143	0.52455	0.27922568898	0.30403	0.852440476418	0.89982	D	0.015519	0.13004	T	-0.553858	0.00276	T	-0.564908	0.15918	T	0.0629830001162139	0.07630	T	0.541546	0.18382	T	0.04678642	0.07888	0.06189703	0.12024	0.04678642	0.07887	0.06189703	0.12023	-6.286	0.48611	T	.	.	0.158	0.35013	B	.	.	3.294974	0.45205	22.1	0.99675179453158946	0.78846	0.61489	0.31499	D	ALL	0.082369	0.16678	N	-0.594984893502177	0.19096	0.9967698	-0.560521619871351	0.20527	1.106322	0.999999999999447	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	3.68	1.76	0.23776	0.801000	0.26716	4.211000	0.42532	-0.223000	0.07921	0.640000	0.28085	1.000000	0.68203	0.746000	0.35646	0.2098:0.0:0.7902:0.0	8.038	0.29665	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	206.43	13	chr9	137077561	.	G	A	206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=187;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.114;SOR=1.085	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,752	9	0	1	0
chr9	137107359	137107359	T	C	exonic	MAN1B1	.	nonsynonymous SNV	MAN1B1:NM_016219:exon11:c.T1676C:p.M559T	Mental retardation, autosomal recessive 15, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1900055	Rafiq_syndrome	MONDO:MONDO:0013624,MedGen:C3280127,OMIM:614202,Orphanet:88616	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.718	0.371399420341	.	.	8.309e-06	0	0	0	0	1.517e-05	0	0	6.5e-06	1	154602	rs748308268	2.053e-06	2.052e-06	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	0.343	0.21678	T	0.928	0.51611	P	0.968	0.71741	D	.	.	.	.	1	0.81001	D	0.945	0.23706	L	-0.55	0.71068	T	-2.74	0.58248	D	0.912	0.91391	-0.5795	0.65637	T	0.299	0.67036	T	8	0.9328561	0.92621	D	0.371399	0.92755	D	0.718	0.90011	0.781	0.90541	0.813912271764	0.81216	0.78428641239847	0.78379	0.45569561793	0.45240	0.760856568813	0.76057	T	0.444342	0.78778	T	0.264428	0.79938	D	0.142056	0.79678	D	0.722466647624969	0.41824	D	0.937606	0.76517	D	0.52696174	0.68657	0.5374729	0.73271	0.52696174	0.68658	0.5374729	0.73271	-9.466	0.70647	D	0.1970848218258877	0.26054	0.666	0.79959	P	.;.	.;.	4.584364	0.72457	25.8	0.9260622560900037	0.22070	0.96671	0.70321	D	AEFDGBHCI	0.940868	0.94340	D	0.40262581928981	0.61566	4.359528	0.427589881712492	0.63288	4.55982	0.999999966729209	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.25	4.25	0.49658	7.306000	0.78218	7.598000	0.61467	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	11.214	0.48043	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1181.43	34	chr9	137107359	.	T	C	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.866;DP=444;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=2.09;SOR=0.6	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1321	9	0	1	0
chr9	137112002	137112002	C	T	exonic	DPP7	.	nonsynonymous SNV	DPP7:NM_013379:exon10:c.G1078A:p.A360T	.	.	.	.	.	.	.	.	.	.	.	3247917	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.0147863884615	7.7e-05	.	4.148e-05	0	0	0.0001	0	6.042e-05	0	0	3.88e-05	6	154602	rs145954715	5.337e-05	5.336e-05	5.583e-05	5.089e-05	6.746e-05	4.345e-05	4.018e-05	5.51e-05	5.026e-05	0	2.237e-05	0	2.519e-05	0	0	6.746e-05	1.656e-05	0	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.207	0.19854	T	0.493	0.11443	T	0.153	0.28093	B	0.046	0.24676	B	0.589156	0.11067	N	0.787937	1	0.08975	N	-0.185	0.04235	N	3.0	0.09167	T	-0.78	0.21644	N	0.11	0.09631	-0.9469	0.41498	T	0.009	0.03315	T	10	0.08487612	0.14270	T	0.014786	0.35134	T	0.076	0.22200	.	.	0.0666544352282	0.05500	0.7898957265533059	0.78941	0.0786725316196	0.08852	0.334217905998	0.15570	T	0.003553	0.02960	T	-0.459752	0.00987	T	-0.72905	0.04370	T	0.0304899290204048	0.02066	T	0.893711	0.63166	D	0.119155824	0.28061	0.067987226	0.14139	0.119155824	0.28061	0.067987226	0.14139	-6.401	0.49517	T	.	.	0.106	0.19720	B	.	.	2.657837	0.34622	19.68	0.97466333922977322	0.34110	0.07497	0.13512	N	AEFDGBCI	0.136695	0.25744	N	-1.17749645986723	0.05341	0.2432584	-1.13904464613197	0.06966	0.3371499	0.999987207772921	0.51787	0.732398	0.92422	0	0.702456	0.74545	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.97	0.871	0.18244	0.121000	0.15496	0.943000	0.22867	0.597000	0.34315	0.000000	0.06391	0.166000	0.23302	0.875000	0.41745	0.2196:0.4529:0.0:0.3276	3.623	0.07646	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	97	chr9	137112002	.	C	T	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.563;DP=702;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.498;SOR=0.704	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	9	0	1	0
chr9	137169519	137169519	A	C	exonic	LRRC26	.	nonsynonymous SNV	LRRC26:NM_001013653:exon1:c.T425G:p.L142R	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.453145995777	.	0.000998403	0.0052	0.0035	0.0049	0	0	0.0013	0	0.0072	0.0005498	85	154602	rs532802522	0.0005	0.0005	0.0003	0.0006	0.0062	0.0004	0.0004	0.0058	0.0056	3.438e-05	0.0003	0.0003	2.931e-05	0	0.0044	7.631e-05	0.0007	0.0062	0.0005	0.0005	0.0003	0.0008	0.0056	0.0004	0.0004	0.0039	0.0034	4.813e-05	0	0.0027	0.0009	0	0	0	0.0001	0	0.0056	0.019	0.50132	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.002186	0.37053	N	0.000000	0.96542	0.38467	D	4.255	0.98070	H	3.59	0.04544	T	-4.28	0.76334	D	0.714	0.71676	-0.9643	0.38350	T	0.083	0.32556	T	10	0.07249701	0.10829	T	0.453146	0.94379	D	0.269	0.58381	0.907	0.98068	0.50539470866	0.50177	0.5839449485821246	0.58323	1.83200647507	0.92061	0.91601729393	0.98005	D	0.360377	0.72663	T	-0.288284	0.09809	T	-0.18329	0.56217	T	0.116531804214541	0.14087	T	0.558444	0.19458	T	0.60605323	0.73016	0.6238569	0.78079	0.60605323	0.73017	0.6238569	0.78080	-12.749	0.88302	D	.	.	0.752	0.75157	P	.	.	4.518965	0.70831	25.6	0.99668429547880644	0.78394	0.52538	0.29155	D	ALL	0.474485	0.51873	N	0.677889401193372	0.78182	6.820648	0.49112423817239	0.67399	5.079024	0.999999999999979	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.14	4.14	0.47821	2.444000	0.44549	7.718000	0.67175	0.626000	0.51810	0.934000	0.32416	1.000000	0.68203	0.519000	0.29452	0.8827:0.0:0.1173:0.0	6.268	0.20148	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002121	0.000000	0.001401	0.003145	0.000000	0.000000	0.003226	0.007752	0.05	760.43	33	chr9	137169519	.	A	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.258;DP=413;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=2.26;SOR=0.501	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	9	0	1	0
chr9	137186288	137186288	C	T	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon3:c.G809A:p.R270Q	.	418	1100	3	1	0	5	0.00226757	.	.	.	3979901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00453105633492	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs146337536	7.808e-05	7.798e-05	5.997e-05	9.638e-05	0.0006	6.608e-05	6.15e-05	0.0004	0.0004	2.988e-05	4.474e-05	0	0	0	0.0006	4.946e-05	9.949e-05	0.0005	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.496	0.07846	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.000068	0.52346	D	0.162027	0.680927	0.30279	N	-0.69	0.01958	N	3.97	0.03326	T	0.64	0.02368	N	0.265	0.30004	-0.9869	0.33371	T	0.005	0.01688	T	10	0.058430403	0.06869	T	0.004531	0.11157	T	0.079	0.23065	.	.	0.31316556289	0.30919	0.1767428270055384	0.17593	0.718418956035	0.62092	0.51226747036	0.40539	T	0.304795	0.67708	T	-0.447107	0.01174	T	-0.558049	0.16560	T	0.0469700216820017	0.04960	T	0.858914	0.54988	D	0.056080732	0.10984	0.038814608	0.03834	0.056080732	0.10984	0.038814608	0.03833	-4.486	0.30705	T	0.14703866300673302	0.17009	0.070	0.03588	B	.	.	3.213577	0.43755	21.8	0.99213936142850967	0.55685	0.66699	0.33169	D	AEFGBI	0.166074	0.29262	N	-0.362109425029085	0.26829	1.467296	-0.174528761137932	0.32477	1.848036	0.999998731590434	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.71	2.8	0.31881	3.067000	0.49706	2.127000	0.30755	0.599000	0.40250	1.000000	0.71638	0.535000	0.25384	0.984000	0.60418	0.0:0.7608:0.0:0.2392	5.070	0.13940	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	3556.14	34	chr9	137186288	.	C	T	3556.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.37;DP=609;ExcessHet=0.2348;FS=1.324;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.41;SOR=0.776	GT:AD:DP:GQ:PL	0/1:70,83:153:99:1931,0,1555	8	0	2	0
chr9	137215195	137215195	C	T	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144027:exon8:c.C1064T:p.S355L,NDOR1:NM_001144026:exon9:c.C1166T:p.S389L,NDOR1:NM_001144028:exon9:c.C1166T:p.S389L,NDOR1:NM_014434:exon9:c.C1166T:p.S389L	.	404	1093	24	1	0	26	0.0117541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633	.	0.0026	0.00119808	0.0042	0.0005	0.0020	0	0.0202	0.0043	0.0090	0.0045	0.0036416	563	154602	rs150718423	0.0033	0.0033	0.0032	0.0034	0.0050	0.0032	0.0032	0.0044	0.0042	0.0004	0.0023	0.0008	0	0.0140	0.0050	0.0030	0.0034	0.0047	0.0034	0.0034	0.0027	0.0041	0.0040	0.0031	0.0030	0.0036	0.0034	0.0004	0	0.0027	0.0003	0.0002	0.0146	0.0034	0.0040	0.0047	0.0039	0.001	0.78490	D	0.002	0.79402	D	0.999	0.90584	D	0.947	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.15	0.97575	H	-0.99	0.75911	T	-5.67	0.87143	D	0.818	0.81360	0.528	0.90939	D	0.652	0.87866	D	10	0.028880298	0.01017	T	.	.	.	0.633	0.85924	.	.	0.900595898261	0.89960	0.8560677092019127	0.85569	0.686208846331	0.60320	0.737328290939	0.72579	T	0.205969	0.56518	T	-0.00834766	0.50497	T	0.215911	0.83969	D	0.13665932178373	0.15984	T	0.979469	0.92930	D	0.7062033	0.78398	0.6236406	0.78067	0.7062033	0.78399	0.6236406	0.78068	-11.428	0.82678	D	.	.	0.683	0.72283	P	.;.;.;.	.;.;.;.	4.687627	0.75076	26.3	0.99846681344304111	0.92663	0.90458	0.51651	D	AEFGBI	0.363951	0.45267	N	0.422679150873749	0.62672	4.48692	0.231735266002781	0.51615	3.342666	0.999999999999459	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.57	4.57	0.55860	5.387000	0.65993	7.431000	0.58793	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.0:1.0:0.0:0.0	16.266	0.82404	988	0.01987	.;.;.;Sulfite reductase [NADPH] flavoprotein alpha-component-like, FAD-binding|Flavoprotein pyridine nucleotide cytochrome reductase|FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006073	0.000000	0.002717	0.005882	0.000000	0.000000	0.012346	0.007634	0.05	1216.43	40	chr9	137215195	.	C	T	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.529;DP=448;ExcessHet=0;FS=2.361;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.367;SOR=0.924	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	9	0	1	0
chr9	137216285	137216285	A	G	exonic	NDOR1	.	nonsynonymous SNV	NDOR1:NM_001144026:exon14:c.A1690G:p.M564V,NDOR1:NM_001144028:exon14:c.A1642G:p.M548V,NDOR1:NM_014434:exon14:c.A1663G:p.M555V	.	417	1093	12	0	0	12	0.00545951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	.	0.0080	0.00698882	0.0031	0.0241	0.0017	0	0	0.0009	0.0011	0.0028	0.0030013	464	154602	rs75647712	0.0014	0.0014	0.0015	0.0014	0.0276	0.0014	0.0014	0.0262	0.0256	0.0276	0.0019	0.0013	0	0	0.0035	0.0005	0.0027	0.0031	0.0082	0.0082	0.0086	0.0078	0.0260	0.0078	0.0077	0.0247	0.0242	0.0260	0.0044	0.0048	0.0020	0	0	0.0068	0.0007	0.0095	0.0037	0.003	0.68238	D	0.005	0.72224	D	0.996	0.68779	D	0.933	0.66815	D	0.000000	0.84330	D	0.086182	0.999832	0.81001	D	.	.	.	-3.49	0.94621	D	-3.13	0.63901	D	0.548	0.68690	0.453	0.89873	D	0.764	0.91953	D	9	0.011333287	0.00248	T	.	.	.	0.506	0.78724	.	.	0.87308272854	0.87184	0.7487532325093471	0.74821	0.629133186474	0.56967	0.480909883976	0.36182	T	0.44837	0.79028	T	-0.253177	0.13712	T	-0.116176	0.62115	T	0.0496555705096417	0.05439	T	0.837416	0.50983	T	0.49214098	0.66630	0.42788908	0.66520	0.49214098	0.66631	0.42788908	0.66520	-10.636	0.79201	D	.	.	0.298	0.58814	B	.;.;.	.;.;.	2.731068	0.35751	19.98	0.97089143432021052	0.32315	0.96122	0.67633	D	AEFGBI	0.255713	0.37478	N	0.0240550685196933	0.42950	2.597686	-0.143379270227046	0.33663	1.928039	0.999947320098647	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.91	1.32	0.20897	0.574000	0.23416	3.917000	0.40446	0.756000	0.94297	0.049000	0.21372	1.000000	0.68203	0.060000	0.15972	0.6442:0.1812:0.0:0.1746	5.332	0.15244	988	0.01987	.;.;Oxidoreductase FAD/NAD(P)-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004032	0.005051	0.004076	0.005848	0.000000	0.000000	0.006135	0.007576	0.05	1426.43	42	chr9	137216285	.	A	G	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.416;DP=466;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=0.598;SOR=0.588	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr9	137233357	137233357	G	A	exonic	SLC34A3	.	nonsynonymous SNV	SLC34A3:NM_001177316:exon7:c.G709A:p.D237N,SLC34A3:NM_001177317:exon7:c.G709A:p.D237N,SLC34A3:NM_080877:exon7:c.G709A:p.D237N	Hypophosphatemic rickets with hypercalciuria, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	YES	266140	Autosomal_recessive_hypophosphatemic_bone_disease|not_provided|not_specified|SLC34A3-related_disorder	MONDO:MONDO:0009431,MedGen:C1853271,OMIM:241530,Orphanet:157215|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0362433380852	0.0012	0.00179712	0.0033	0.0004	0.0013	0.0020	0.0050	0.0050	0.0044	0.0010	0.0017594	272	154602	rs145877051	0.0016	0.0016	0.0017	0.0016	0.0018	0.0016	0.0015	0.0018	0.0017	0.0003	0.0009	0.0001	0.0004	0.0016	0.0012	0.0018	0.0013	0.0009	0.0013	0.0013	0.0016	0.0011	0.0023	0.0012	0.0011	0.0020	0.0019	0.0004	0	0.0006	0.0003	0.0002	0.0008	0.0034	0.0023	0.0014	0.0021	0.074	0.34621	T	0.211	0.26631	T	1.0	0.90584	D	0.979	0.74454	D	0.063672	0.22008	N	0.358324	0.938001	0.37210	D	2.495	0.72670	M	1.45	0.32482	T	-3.51	0.68298	D	0.531	0.55972	-0.8852	0.49340	T	0.148	0.47433	T	10	0.023798913	0.00634	T	0.036243	0.56869	D	0.190	0.46781	.	.	0.644088342458	0.64114	0.5387511401383708	0.53800	0.213491521651	0.23864	0.569087922573	0.48547	T	0.468787	0.80258	T	-0.47145	0.00832	T	-0.455219	0.27122	T	0.0304338455490158	0.02057	T	0.743326	0.36245	T	0.20309533	0.42377	0.25089675	0.50690	0.24179618	0.47100	0.1890795	0.42234	-7.232	0.55710	T	0.15818058653472436	0.19152	0.107	0.20078	B	.;.	.;.	4.215701	0.63731	24.6	0.99884082704107957	0.95970	0.96871	0.71393	D	AEFDGBHCI	0.938592	0.93800	D	0.552229475642953	0.70218	5.469333	0.464535428457791	0.65657	4.851385	0.99999999999971	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.45	3.45	0.38602	9.569000	0.97327	3.219000	0.36843	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.498000	0.28972	0.0:0.0:1.0:0.0	12.777	0.56834	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	867.43	36	chr9	137233357	.	G	A	867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.329;DP=420;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=0.521;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,979	9	0	1	0
chr9	137279666	137279666	T	G	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.T977G:p.F326C	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0211661	0.0082	0.0226	0.0371	0.0392	0	0.0003	0.0065	0.0047	0.0045795	708	154602	rs28516757	0.0025	0.0025	0.0025	0.0024	0.0338	0.0024	0.0024	0.0322	0.0316	0.0170	0.0191	0.0006	0.0338	2.757e-05	0.0025	0.0002	0.0054	0.0039	0.0083	0.0083	0.0084	0.0082	0.0402	0.0079	0.0078	0.0357	0.0340	0.0172	0	0.0176	0.0003	0.0402	0	0.0068	0.0004	0.0099	0.0037	0.176	0.22312	T	0.126	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.59	0.53943	T	-0.11	0.08653	N	0.11	0.09631	-1.0837	0.06646	T	0.011	0.04274	T	9	0.0024200678	0.00036	T	.	.	.	0.034	0.08419	.	.	0.0297737177859	0.01360	0.7652302752446954	0.76472	1.6293561875	0.89194	0.755126357079	0.75204	T	0.034567	0.23374	T	-0.620432	0.00109	T	-0.638222	0.09799	T	0.000142043531616991	0.00001	T	0.147885	0.01227	T	0.03345066	0.03567	0.033385046	0.02224	0.03345066	0.03567	0.033385046	0.02223	-4.361	0.29023	T	.	.	0.137	0.29860	B	.	.	0.370028	0.07422	4.054	0.50929529625452752	0.04471	0.07231	0.13255	N	AEFGBCI	0.040331	0.05986	N	-1.54006810942247	0.01593	0.06962702	-1.58010280436456	0.01777	0.08087423	0.999973011656619	0.50053	0.631515	0.41029	0	0.697927	0.68747	0	0.654045	0.52621	0	0.662433	0.64102	0	.	.	4.23	-3.02	0.05116	-0.336000	0.07908	0.000000	0.13247	-2.361000	0.00305	0.000000	0.06391	0.044000	0.21668	0.000000	0.00833	0.1042:0.4793:0.1288:0.2877	2.737	0.04921	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.002740	0.002959	0.000000	0.008772	0.003067	0.003788	0.05	2428.43	43	chr9	137279666	.	T	G	2428.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=557;ExcessHet=0;FS=3.287;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.505;SOR=0.494	GT:AD:DP:GQ:PL	0/1:98,97:195:99:2440,0,2461	9	0	1	0
chr9	137612914	137612914	T	C	exonic	ARRDC1	.	nonsynonymous SNV	ARRDC1:NM_001317968:exon2:c.T137C:p.I46T,ARRDC1:NM_152285:exon2:c.T137C:p.I46T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00400828739768	.	0.000998403	0.0003	0	0	0.0029	0	1.53e-05	0	0.0005	0.0002523	39	154602	rs201141848	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0001	0.0050	0.0047	0	0	0	0.0056	0	0.0005	0	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0037	9.141e-05	7.697e-05	0.0024	0.0020	0	0	0	0	0.0037	0	0	0	0	0.0004	0.851	0.05992	T	0.328	0.19073	T	0.0	0.07471	B	0.002	0.08700	B	0.602448	0.10945	N	0.839505	1	0.08975	N	0.345	0.11182	N	2.69	0.12268	T	0.43	0.03297	N	0.195	0.21449	-0.9407	0.42505	T	0.020	0.08220	T	10	0.011376113	0.00249	T	0.004008	0.09525	T	0.080	0.23350	.	.	0.0401082797425	0.02173	0.2752863528249749	0.27441	0.161159105999	0.18189	0.71418762207	0.69200	T	0.00131	0.00791	T	-0.535111	0.00358	T	-0.543847	0.17920	T	0.00973091924782161	0.00127	T	0.441756	0.12241	T	0.038147442	0.05028	0.043319732	0.05363	0.038147442	0.05028	0.043319732	0.05362	-1.685	0.02190	T	.	.	0.049	0.00125	B	.;.;.	.;.;.	0.432841	0.08032	4.752	0.65369661025204706	0.07753	0.03287	0.08335	N	AEFDGBHCI	0.039061	0.05619	N	-1.2948253019868	0.03737	0.1674747	-1.29849996674138	0.04451	0.2099898	0.999999685474874	0.74766	0.645754	0.44609	0	0.643519	0.57511	0	0.696144	0.63334	0	0.526803	0.08958	0	.	.	5.29	-1.18	0.09122	0.255000	0.18102	-0.379000	0.09554	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.435000	0.27561	0.0:0.3104:0.0:0.6896	11.287	0.48460	982	0.03397	Arrestin-like, N-terminal|Arrestin C-terminal-like domain;Arrestin-like, N-terminal;Arrestin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1573.43	112	chr9	137612914	.	T	C	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.246;DP=443;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=1.08;SOR=0.893	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1452	9	0	1	0
chr9	137614709	137614714	GAGGCT	-	exonic	ARRDC1	.	nonframeshift deletion	ARRDC1:NM_001317968:exon7:c.946_951del:p.E320_A321del,ARRDC1:NM_152285:exon7:c.946_951del:p.E320_A321del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0003	0	0	0.0028	0	1.565e-05	0	0.0006	0.0002587	40	154602	rs566052691	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0050	0.0048	9.007e-05	4.531e-05	0	0.0056	0	0	2.52e-05	0.0002	0.0003	0.0001	0.0002	0.0002	0.0001	0.0035	9.742e-05	8.257e-05	0.0023	0.0019	0	0	6.532e-05	0	0.0035	0	0	1.471e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1783.39	100	chr9	137614708	.	GGAGGCT	G	1783.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.558;DP=568;ExcessHet=0;FS=1.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.476;SOR=0.869	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1382	9	0	1	0
chr10	366331	366331	C	T	exonic	DIP2C	.	nonsynonymous SNV	DIP2C:NM_014974:exon19:c.G2212A:p.V738I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00325468096466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.18498	T	0.216	0.26226	T	0.0	0.02946	B	0.005	0.11217	B	0.000292	0.46274	N	0.190436	1	0.08975	N	1.5	0.37844	L	2.85	0.10578	T	-0.32	0.12283	N	0.15	0.20660	-1.0223	0.22965	T	0.073	0.29578	T	10	0.14847383	0.28116	T	0.003255	0.07177	T	0.042	0.11227	0.6	0.73105	0.043077524339	0.03247	0.30096386499836275	0.30009	0.621333727136	0.56425	0.270182400942	0.06164	T	0.048516	0.28041	T	-0.302877	0.08391	T	-0.672839	0.07428	T	0.163904160261154	0.18155	T	0.818018	0.49813	T	0.03124962	0.02931	0.032308802	0.01945	0.03124962	0.02930	0.032308802	0.01945	-3.301	0.13750	T	.	.	0.066	0.03060	B	.;.;.	.;.;.	0.637825	0.10061	6.812	0.91588385084858126	0.20870	0.09927	0.15570	N	AEFDBI	0.041536	0.06327	N	-0.716011549394585	0.15571	0.7859205	-0.714721999282696	0.16594	0.8786007	0.0590110320152052	0.15147	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.35	3.26	0.36471	0.946000	0.28667	1.145000	0.24435	0.599000	0.40250	0.310000	0.25414	0.410000	0.24754	0.118000	0.19084	0.0:0.3313:0.2424:0.4264	2.919	0.05410	657	0.62240	AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain;AMP-dependent synthetase/ligase|Dip2-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2468.43	33	chr10	366331	.	C	T	2468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.258;DP=528;ExcessHet=0;FS=4.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-1.076;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1255	9	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1822.95	95	chr10	825249	.	T	C	1822.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.251;DP=1130;ExcessHet=7.0302;FS=212.087;InbreedingCoeff=-0.5384;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.58;SOR=11.374	GT:AD:DP:GQ:PL	0/1:84,47:131:99:310,0,1181	3	0	7	0
chr10	1015826	1015826	C	T	exonic	GTPBP4	.	nonsynonymous SNV	GTPBP4:NM_012341:exon16:c.C1682T:p.P561L	.	421	1097	4	0	0	4	0.00181984	.	.	.	2353426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0131435652875	0.0002	.	0.0002	0.0002	0.0002	0	0	0.0002	0	0.0003	0.0001294	20	154602	rs373695235	0.0001	0.0001	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	0	8.945e-05	0	7.557e-05	0	0.0035	9.894e-05	0.0002	0.0006	7.876e-05	7.873e-05	5.138e-05	0.0001	0.0002	4.492e-05	3.509e-05	2.846e-05	1.858e-05	7.215e-05	0	6.532e-05	0	0	0	0.0034	7.349e-05	0.0005	0.0002	0.074	0.34621	T	0.156	0.31833	T	0.452	0.36118	B	0.042	0.24114	B	0.000000	0.84330	N	0.046897	1	0.81001	D	2.15	0.60148	M	1.55	0.29866	T	-1.11	0.28703	N	0.423	0.46274	-1.0202	0.23649	T	0.088	0.34133	T	10	0.13093024	0.24918	T	0.013144	0.32307	T	0.138	0.37187	.	.	0.228066490088	0.22430	0.1900917241784084	0.18927	0.123419248041	0.13898	0.418734014034	0.27662	T	0.01102	0.09882	T	-0.398545	0.02366	T	-0.494103	0.22961	T	0.0334397679290094	0.02544	T	0.707329	0.31793	T	0.04756582	0.08151	0.052231915	0.08564	0.04756582	0.08151	0.052231915	0.08564	-6.707	0.51863	T	.	.	0.084	0.09530	B	.	.	2.350645	0.30139	18.34	0.84277044549312841	0.15198	0.94330	0.60822	D	AEFDGBHCI	0.377260	0.46110	N	-0.277093401162859	0.30034	1.671035	-0.285157823244283	0.28586	1.595073	0.999997957565734	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.77	0.60425	2.996000	0.49137	1.729000	0.28315	-1.013000	0.01759	0.965000	0.33920	0.026000	0.21063	0.014000	0.10232	0.0:0.9299:0.0:0.0701	14.591	0.67958	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1481.43	142	chr10	1015826	.	C	T	1481.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=463;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.325;SOR=0.586	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1280	9	0	1	0
chr10	1017098	1017098	G	C	exonic	GTPBP4	.	nonsynonymous SNV	GTPBP4:NM_012341:exon17:c.G1776C:p.M592I	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0004	0.00239617	0.0019	0	0.0002	0	0.0003	0.0005	0.0022	0.0114	0.0016041	248	154602	rs147640846	0.0010	0.0010	0.0007	0.0012	0.0092	0.0009	0.0009	0.0087	0.0085	0.0003	0.0002	0	2.519e-05	0.0004	0.0021	0.0005	0.0012	0.0092	0.0008	0.0008	0.0006	0.0009	0.0077	0.0006	0.0006	0.0057	0.0050	0.0001	0	0.0002	0	0	0.0002	0.0068	0.0009	0.0009	0.0077	0.389	0.10874	T	0.452	0.12884	T	0.0	0.02946	B	0.001	0.04355	B	0.000002	0.62929	D	0.182440	0.999963	0.52935	D	0.245	0.09735	N	1.59	0.28836	T	-0.37	0.13226	N	0.213	0.23758	-1.0540	0.13305	T	0.029	0.12409	T	10	0.0057736933	0.00129	T	.	.	.	0.078	0.22779	0.417	0.45709	0.189391138174	0.18552	0.21330105384493755	0.21246	0.0983761577617	0.11110	0.468518197536	0.34477	T	0.006927	0.06354	T	-0.568482	0.00226	T	-0.579967	0.14547	T	0.0225113992474674	0.00967	T	0.844715	0.52235	T	0.07879132	0.17963	0.077401735	0.17239	0.07879132	0.17962	0.077401735	0.17239	-4.074	0.24905	T	.	.	0.187	0.40424	B	.	.	2.602378	0.33784	19.44	0.96234924047476711	0.29132	0.86887	0.46269	D	AEFBCI	0.214662	0.34011	N	-0.26257762604018	0.30605	1.708026	-0.0206527000993103	0.38783	2.289937	0.285162915370072	0.19029	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	3.82	0.43153	1.543000	0.35754	7.915000	0.74225	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0705:0.1286:0.6679:0.133	6.765	0.22749	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	772.43	34	chr10	1017098	.	G	C	772.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.555;DP=382;ExcessHet=0;FS=1.995;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.632;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	9	0	1	0
chr10	1020847	1020847	G	-	exonic	IDI2	.	frameshift deletion	IDI2:NM_033261:exon4:c.286delC:p.L96Wfs*9	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0010	0.0002	0.0024	0	0.0003	0.0011	0.0022	0.0009	0.0001537	4	26028	rs55836842	0.0009	0.0009	0.0008	0.0009	0.0027	0.0008	0.0008	0.0023	0.0021	0.0003	0.0027	0	0	0.0002	0.0009	0.0009	0.0007	0.0008	0.0009	0.0009	0.0008	0.0009	0.0035	0.0007	0.0007	0.0028	0.0025	0.0001	0	0.0035	0	0	0.0003	0	0.0009	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1793.39	34	chr10	1020846	.	AG	A	1793.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.84;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.12;ReadPosRankSum=1.07;SOR=0.653	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1021	9	0	1	0
chr10	1048876	1048876	C	T	exonic	IDI1	.	nonsynonymous SNV	IDI1:NM_004508:exon1:c.G128A:p.R43Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00393010655365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs939147873	8.942e-06	1.163e-05	1.369e-05	4.149e-06	0.0004	4.99e-06	3.85e-06	6.568e-05	2.661e-05	9.167e-05	0	0	0	0	0.0004	5.41e-06	3.338e-05	0	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0001	1.714e-05	1.129e-05	4.728e-05	3.046e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.538	0.06847	T	0.321	0.19073	T	0.684	0.41517	P	0.015	0.17295	B	0.000292	0.00554	U	9.024590	1	0.08975	N	.	.	.	.	.	.	-0.88	0.23808	N	0.09	0.06854	-1.0538	0.13359	T	0.021	0.08917	T	8	0.08268055	0.13672	T	0.00393	0.09274	T	0.044	0.11924	0.467	0.53891	0.16115917748	0.15686	0.24144742330587288	0.24058	0.676131023117	0.59746	0.31203186512	0.12214	T	.	.	.	-0.295135	0.09126	T	-0.661717	0.08150	T	0.395230501890182	0.28762	T	0.464354	0.13557	T	.	.	.	.	.	.	.	.	-4.917	0.35925	T	.	.	0.096	0.15385	B	.	.	0.968889	0.13460	9.968	0.97307250059381412	0.33308	0.03912	0.09295	N	ALL	0.043256	0.06816	N	-1.07162524810199	0.07170	0.3322708	-1.28553450449108	0.04625	0.2186109	0.999999995919553	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	0.91	-1.82	0.07433	-0.333000	0.07938	-2.125000	0.04176	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.3116:0.3771:0.3114:0.0	2.598	0.04564	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001362	0.000000	0.000000	0.008621	0.006135	0.000000	0.05	303.43	34	chr10	1048876	.	C	T	303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=354;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=-0.164;SOR=1.329	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,762	9	0	1	0
chr10	1363062	1363062	G	T	exonic	ADARB2	.	nonsynonymous SNV	ADARB2:NM_018702:exon3:c.C1043A:p.A348E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00908659791641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.472e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.203	0.29776	B	0.081	0.28987	B	0.361257	0.04305	N	1.385730	1	0.08975	N	1.24	0.30952	L	1.99	0.21666	T	-0.03	0.07444	N	0.125	0.11769	-1.0421	0.16681	T	0.017	0.06807	T	10	0.035996705	0.01876	T	0.009087	0.23917	T	0.031	0.07369	0.457	0.52265	0.123314135267	0.11883	0.2679764123111616	0.26710	1.07880436334	0.77074	0.267588078976	0.05829	T	0.00827	0.07601	T	-0.278956	0.10777	T	-0.638477	0.09780	T	0.0858684304873363	0.10720	T	0.289971	0.05268	T	0.041354667	0.06077	0.08967596	0.20984	0.041354667	0.06076	0.08967596	0.20983	-8.177	0.62270	D	.	.	0.119	0.24566	B	.	.	-0.207309	0.03053	0.472	0.54965077188408107	0.05244	0.06707	0.12728	N	AEFDBCI	0.087658	0.17773	N	-1.50619947224506	0.01808	0.07927274	-1.51218697588789	0.02250	0.1031914	0.108759266137914	0.16590	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.22	-2.81	0.05459	0.383000	0.20381	-0.373000	0.09593	-0.327000	0.05804	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4882:0.126:0.2624:0.1233	1.909	0.03084	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2293.43	35	chr10	1363062	.	G	T	2293.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=483;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.026;SOR=0.615	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	9	0	1	0
chr10	3119938	3119938	A	G	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323074:exon11:c.A929G:p.E310G,PFKP:NM_001323073:exon12:c.A929G:p.E310G,PFKP:NM_001323067:exon16:c.A1496G:p.E499G,PFKP:NM_001323069:exon16:c.A1070G:p.E357G,PFKP:NM_001345944:exon16:c.A1463G:p.E488G,PFKP:NM_002627:exon16:c.A1577G:p.E526G,PFKP:NM_001323071:exon17:c.A1463G:p.E488G,PFKP:NM_001323072:exon17:c.A1463G:p.E488G,PFKP:NM_001242339:exon18:c.A1553G:p.E518G	.	428	1090	4	0	0	4	0.0018315	.	.	.	701318	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.333	0.0322009805631	0.0058	0.00259585	0.0053	0.0012	0.0008	0	0.0036	0.0079	0.0022	0.0043	0.0052845	817	154602	rs41288721	0.0071	0.0071	0.0070	0.0071	0.0083	0.0070	0.0069	0.0082	0.0081	0.0009	0.0014	0.0039	0	0.0035	0.0012	0.0083	0.0062	0.0037	0.0048	0.0048	0.0050	0.0045	0.0076	0.0045	0.0044	0.0071	0.0068	0.0011	0.0428	0.0035	0.0049	0	0.0032	0	0.0076	0.0033	0.0033	0.009	0.65419	D	0.04	0.50809	D	0.003	0.11197	B	0.02	0.19048	B	0.004544	0.33627	N	0.340065	0.811297	0.34645	D	1.95	0.52479	M	-1.15	0.77964	T	-3.69	0.70432	D	0.397	0.44187	-0.6577	0.62377	T	0.242	0.61083	T	10	0.008535087	0.00193	T	0.032201	0.54088	D	0.333	0.65522	.	.	0.672392681923	0.66962	0.7627020923406801	0.76218	0.269737973459	0.29498	0.287244170904	0.08522	T	0.697751	0.91269	D	-0.308868	0.07848	T	-0.211317	0.53569	T	0.0274130518947856	0.01603	T	0.954805	0.82790	D	0.56875163	0.70992	0.39064917	0.63855	0.56875163	0.70993	0.39064917	0.63855	-8.673	0.68453	D	.	.	0.088	0.17402	B	.;.	.;.	3.846597	0.55700	23.6	0.99809054772278494	0.89353	0.86471	0.45758	D	AEFBCI	0.453575	0.50665	N	-0.140759923701473	0.35630	2.048945	0.0306633717489943	0.41145	2.467178	0.999449958782421	0.39736	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.7	4.54	0.55220	3.766000	0.54991	5.888000	0.50725	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8661:0.1339:0.0:0.0	13.103	0.58646	982	0.03397	Phosphofructokinase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1077.43	51	chr10	3119938	.	A	G	1077.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.119;DP=472;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-1.303;SOR=0.621	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1089,0,1557	9	0	1	0
chr10	3135825	3135825	C	A	exonic	PFKP	.	nonsynonymous SNV	PFKP:NM_001323070:exon15:c.C1411A:p.Q471K,PFKP:NM_001323074:exon16:c.C1564A:p.Q522K,PFKP:NM_001323073:exon17:c.C1564A:p.Q522K,PFKP:NM_001323068:exon20:c.C2059A:p.Q687K,PFKP:NM_001323067:exon21:c.C2131A:p.Q711K,PFKP:NM_001323069:exon21:c.C1705A:p.Q569K,PFKP:NM_001345944:exon21:c.C2098A:p.Q700K,PFKP:NM_002627:exon21:c.C2212A:p.Q738K,PFKP:NM_001323071:exon22:c.C2098A:p.Q700K,PFKP:NM_001323072:exon22:c.C2098A:p.Q700K,PFKP:NM_001242339:exon23:c.C2188A:p.Q730K	.	434	1047	39	2	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0016	0.00638978	0.0034	0.0005	0.0045	0	0	0.0019	0.0044	0.0136	0.0032665	505	154602	rs1804254	0.0023	0.0023	0.0018	0.0027	0.0139	0.0022	0.0022	0.0133	0.0130	0.0003	0.0046	0.0020	0	0.0002	0.0099	0.0014	0.0032	0.0139	0.0023	0.0023	0.0021	0.0026	0.0135	0.0021	0.0020	0.0109	0.0099	0.0005	0	0.0078	0.0014	0.0002	0	0.0102	0.0019	0.0076	0.0135	0.281	0.18691	T	0.279	0.21745	T	0.0	0.02946	B	0.0	0.01387	B	0.001530	0.38731	N	0.282681	0.97893	0.25216	N	1.56	0.39490	L	-1.28	0.79475	T	-1.09	0.38151	N	0.214	0.31478	-1.0157	0.25110	T	0.025	0.10866	T	10	0.007251948	0.00165	T	.	.	.	0.169	0.43123	.	.	0.617109349803	0.61401	0.5715476712037727	0.57082	0.245553725906	0.27076	0.319565057755	0.13355	T	0.189656	0.54395	T	-0.397201	0.02415	T	-0.331652	0.41285	T	0.00488657485751936	0.00052	T	0.645735	0.26930	T	0.1270293	0.29737	0.08154157	0.18539	0.1270293	0.29737	0.08154157	0.18539	-8.362	0.64852	D	.	.	0.089	0.12181	B	.;.;.	.;.;.	1.951134	0.24781	16.52	0.89643019086762443	0.18974	0.76491	0.37519	D	AEFBCI	0.273064	0.38855	N	-0.549113492516175	0.20512	1.081822	-0.551418355968868	0.20768	1.120472	0.998767270567485	0.37623	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.92	0.742	0.17490	2.628000	0.46143	0.622000	0.20140	-0.153000	0.12021	0.999000	0.42656	0.005000	0.19230	0.465000	0.28230	0.1415:0.2524:0.6061:0.0	7.799	0.28328	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009082	0.000000	0.001362	0.020468	0.000000	0.008621	0.009202	0.018939	0.05	636.43	34	chr10	3135825	.	C	A	636.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.097;DP=375;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.983;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,976	9	0	1	0
chr10	3138965	3138965	G	C	exonic	PITRM1	.	nonsynonymous SNV	PITRM1:NM_001242309:exon22:c.C2562G:p.I854M,PITRM1:NM_001347725:exon23:c.C2658G:p.I886M,PITRM1:NM_001347726:exon23:c.C2043G:p.I681M,PITRM1:NM_001347730:exon23:c.C2634G:p.I878M,PITRM1:NM_001242307:exon25:c.C2859G:p.I953M,PITRM1:NM_001347727:exon25:c.C2241G:p.I747M,PITRM1:NM_001347728:exon25:c.C1551G:p.I517M,PITRM1:NM_001347729:exon25:c.C2832G:p.I944M,PITRM1:NM_014889:exon25:c.C2856G:p.I952M	.	436	1051	34	1	0	36	0.0168382	.	.	.	701321	PITRM1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.283	.	0.0072	0.00698882	0.0076	0.0018	0.0042	0.0092	0.0005	0.0076	0.0167	0.0148	0.0076066	1176	154602	rs2279219	0.0085	0.0085	0.0082	0.0088	0.0239	0.0084	0.0083	0.0207	0.0194	0.0017	0.0039	0.0188	0.0107	0.0012	0.0239	0.0083	0.0096	0.0149	0.0055	0.0055	0.0059	0.0051	0.0133	0.0052	0.0051	0.0106	0.0097	0.0013	0	0.0037	0.0153	0.0106	0.0011	0.0340	0.0076	0.0066	0.0133	0.002	0.78490	D	0.006	0.76473	D	0.996	0.68779	D	0.986	0.76916	D	0.000000	0.84330	D	0.048486	0.982543	0.39905	D	3.15	0.88382	M	2.78	0.11298	T	-2.06	0.50502	N	0.733	0.73375	-0.9028	0.47694	T	0.030	0.13023	T	10	0.0075713396	0.00172	T	.	.	.	0.283	0.60100	.	.	0.292787519742	0.28880	0.7876777912847144	0.78719	0.339281541877	0.35884	0.36477342248	0.20078	T	0.03237	0.22457	T	-0.406594	0.02095	T	-0.344497	0.39833	T	0.0919633649975755	0.11448	T	0.928507	0.76748	D	0.5679132	0.70946	0.32878715	0.58764	0.5679132	0.70947	0.32878715	0.58764	-8.724	0.65903	D	.	.	0.099	0.43815	B	.;.;.;.;.	.;.;.;.;.	-0.572070	0.01650	0.116	0.99290081191233992	0.58219	0.46315	0.27733	N	AEFGBCI	0.232223	0.35533	N	-0.67583953480814	0.16711	0.8538296	-0.985766165152834	0.10104	0.5068272	0.99999997108151	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.54	-10.1	0.00330	-1.340000	0.02756	-3.074000	0.03084	-0.158000	0.11653	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2486:0.1044:0.4286:0.2184	3.335	0.06681	970	0.06235	Peptidase M16, C-terminal;.;.;Peptidase M16, C-terminal;Peptidase M16, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1989.43	157	chr10	3138965	.	G	C	1989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.37;DP=547;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.037;SOR=0.608	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr10	4972268	4972268	T	A	exonic	AKR1C1	.	nonsynonymous SNV	AKR1C1:NM_001353:exon6:c.T638A:p.L213Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00171363412539	7.7e-05	.	0.0002	0	0.0004	0	0.0002	0.0002	0	0.0003	0.0001423	22	154602	rs372782197	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0.0004	0.0004	0	0	5.616e-05	0.0014	0.0001	0.0004	0.0003	0.0001	0.0001	9.006e-05	0.0001	0.0003	7.103e-05	5.757e-05	0.0001	8.298e-05	2.421e-05	0	0.0003	0	0	0.0002	0.0032	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.004411	0.33773	N	0.127854	0.999997	0.08975	N	2.665	0.77964	M	1.6	0.28604	T	-5.51	0.85921	D	0.662	0.67132	-0.9843	0.33998	T	0.139	0.45791	T	10	0.5717906	0.65360	D	0.001714	0.02856	T	0.308	0.62947	.	.	0.137902524267	0.13322	0.7754827002343527	0.77498	2.80813242872	0.98930	.	.	.	0.175249	0.52476	T	-0.145783	0.28975	T	-0.113033	0.62368	T	0.37340971827507	0.27929	T	0.957904	0.84151	D	0.9425072	0.95503	0.8330148	0.90382	0.9425072	0.95503	0.8330148	0.90382	-13.237	0.90315	D	.	.	0.751	0.75080	P	.	.	3.987661	0.58662	24.0	0.98926451334213361	0.48657	0.38961	0.26106	N	AEFGI	0.748013	0.68989	D	-0.281369143546472	0.29867	1.660203	-0.44414039954556	0.23715	1.294763	0.999932560873715	0.46732	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	1.8	1.8	0.24069	6.796000	0.74931	4.596000	0.43977	0.496000	0.22519	0.883000	0.31049	0.837000	0.27266	0.967000	0.53440	0.0:0.0:0.0:1.0	7.586	0.27161	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003178	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1234.43	45	chr10	4972268	.	T	A	1234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.896;DP=472;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.32;MQRankSum=-1.272;QD=8.82;ReadPosRankSum=1.22;SOR=0.719	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	9	0	1	0
chr10	4995393	4995393	G	A	exonic	AKR1C2	.	nonsynonymous SNV	AKR1C2:NM_001321027:exon6:c.C694T:p.R232C,AKR1C2:NM_205845:exon8:c.C772T:p.R258C,AKR1C2:NM_001354:exon9:c.C772T:p.R258C	Obesity, hyperphagia, and developmental delay (3);46XY sex reversal 8, Autosomal recessive	15	1496	11	0	0	11	0.003663	.	.	.	3210744	AKR1C2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.302	.	.	.	0.0329	0.0020	0.2198	0.1815	0.0541	0.0045	0.0526	0.0076	.	.	.	rs782195517	0.0011	0.0024	0.0013	0.0010	0.0305	0.0011	0.0011	0.0290	0.0285	0.0001	0.0305	0.0009	0.0061	0.0010	0.0002	5.796e-05	0.0006	0.0002	0.0001	0.0005	0.0001	0.0002	0.0015	9.986e-05	8.465e-05	0.0007	0.0005	4.925e-05	0	0.0006	0	0.0015	0.0002	0	1.483e-05	0.0005	0	0.033	0.47745	D	0.005	0.72224	D	0.99	0.67487	D	0.889	0.65394	P	0.000028	0.55875	D	0.000000	0.999987	0.54805	D	3.885	0.96017	H	1.58	0.29085	T	-7.24	0.94326	D	0.514	0.59901	-0.7784	0.56392	T	0.200	0.55569	T	10	0.010300577	0.00230	T	.	.	.	0.302	0.62290	.	.	0.436780212511	0.43300	0.6688045968153712	0.66818	3.04366087562	0.99282	0.628849744797	0.56981	T	0.216026	0.57807	T	0.0372078	0.56679	T	-0.18433	0.56121	T	0.0948500042171205	0.11781	T	0.933207	0.74971	D	0.7929122	0.83456	0.4514657	0.68086	0.6794278	0.76939	0.49598137	0.70853	-8.384	0.63659	D	0.6385013502958297	0.70887	0.248	0.48293	B	.;.	.;.	4.674500	0.74743	26.2	0.99619437250814058	0.75353	0.62385	0.31766	D	AEFI	0.310900	0.41679	N	0.0517040901841735	0.44221	2.700128	-0.178337949298164	0.32335	1.838572	0.995910845455949	0.34405	0.638212	0.43195	0	0.59043	0.45803	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	3.0	-0.0781	0.13049	1.604000	0.36415	0.148000	0.15257	0.342000	0.19800	0.903000	0.31499	0.000000	0.08366	0.857000	0.40602	0.3581:0.0:0.6419:0.0	6.769	0.22767	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002880	0.000000	0.000000	0.000000	0.000000	0.000000	0.003448	0.016667	0.05	39.43	47	chr10	4995393	.	G	A	39.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=380;ExcessHet=0;FS=10.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.05;MQRankSum=-0.632;QD=0.69;ReadPosRankSum=-0.474;SOR=3.101	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	9	0	1	0
chr10	5499232	5499232	G	C	exonic	CALML5	.	nonsynonymous SNV	CALML5:NM_017422:exon1:c.C207G:p.F69L	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.0497921931777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.033	0.53072	D	0.978	0.58756	D	0.833	0.59784	P	0.000011	0.62929	D	0.000000	0.999785	0.49076	D	2.52	0.73523	M	-0.08	0.63911	T	-5.47	0.85617	D	0.421	0.46086	-0.1648	0.78554	T	0.395	0.74829	T	10	0.600996	0.66911	D	0.049792	0.63967	D	0.378	0.69612	0.657	0.79482	0.727167931094	0.72474	0.9822709912084889	0.98219	1.54857929197	0.87861	0.604382693768	0.53523	T	0.37122	0.73563	T	0.145422	0.68839	D	-0.0288873	0.68443	D	0.962658405303955	0.66431	D	0.978102	0.92255	D	0.768052	0.81931	0.6434286	0.79159	0.768052	0.81933	0.6434286	0.79160	-9.176	0.68823	D	.	.	0.985	0.92256	P	.	.	2.883841	0.38170	20.7	0.99790268386006054	0.87572	0.95084	0.63379	D	AEFBI	0.395734	0.47248	N	0.396867903672992	0.61251	4.323827	0.263552081576528	0.53424	3.511469	0.998676544095768	0.37434	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.6	3.69	0.41483	3.243000	0.51090	5.606000	0.49040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.0933:0.0:0.9067:0.0	10.567	0.44365	794	0.45591	EF-hand domain|EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1334.43	129	chr10	5499232	.	G	C	1334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.658;DP=699;ExcessHet=0;FS=4.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.886;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,924	9	0	1	0
chr10	5730957	5730957	A	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_017782:exon11:c.A958T:p.T320S,TASOR2:NM_001321783:exon12:c.A958T:p.T320S,TASOR2:NM_001321784:exon12:c.A958T:p.T320S,TASOR2:NM_001321785:exon12:c.A958T:p.T320S	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0393	0.0101357	1567	154602	rs75514089	0.0077	0.0077	0.0069	0.0085	0.0354	0.0076	0.0075	0.0344	0.0339	0.0010	0.0032	0.0021	0.0269	0.0040	0.0239	0.0055	0.0077	0.0354	0.0061	0.0061	0.0054	0.0069	0.0447	0.0058	0.0057	0.0399	0.0380	0.0009	0	0.0071	0.0017	0.0297	0.0034	0.0408	0.0049	0.0137	0.0447	0.025	0.47320	D	0.233	0.24913	T	0.908	0.50127	P	0.265	0.39681	B	0.053535	0.22801	N	0.412660	0.995455	0.23286	N	2.05	0.56469	M	3.37	0.05847	T	-1.63	0.39119	N	0.042	0.01498	-0.9833	0.34234	T	0.007	0.02244	T	10	0.002374202	0.00035	T	.	.	.	0.048	0.13305	0.17	0.07536	.	.	0.18643416496702264	0.18561	0.112515022476	0.12700	0.331965386868	0.15231	T	0.043159	0.26414	T	-0.582292	0.00187	T	-0.581335	0.14426	T	0.0185138360721952	0.00567	T	0.689931	0.29934	T	0.069741756	0.15305	0.07706346	0.17132	0.069741756	0.15304	0.07706346	0.17132	-3.456	0.15821	T	.	.	0.164	0.36174	B	.;.	.;.	0.972512	0.13494	10.02	0.98068335027966003	0.38007	0.44859	0.27411	N	AEFBI	0.100182	0.20150	N	-0.0319300939089918	0.40413	2.399544	-0.0686356647124625	0.36694	2.138806	0.300915206058487	0.19188	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.68	3.25	0.36363	0.227000	0.17575	3.239000	0.36954	0.756000	0.94297	0.001000	0.13787	0.985000	0.30750	0.965000	0.52897	0.6742:0.1604:0.1654:0.0	4.811	0.12710	656	0.62345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.05	1682.43	38	chr10	5730957	.	A	T	1682.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=475;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.247;SOR=0.87	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	0	1	0
chr10	5746410	5746410	G	A	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.G2746A:p.G916S,TASOR2:NM_017782:exon15:c.G2989A:p.G997S,TASOR2:NM_001321783:exon16:c.G2989A:p.G997S,TASOR2:NM_001321784:exon16:c.G2989A:p.G997S	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	.	0.0036	0.00179712	0.0042	0.0005	0.0013	0.0001	0.0222	0.0049	0.0044	0.0007	0.0038551	596	154602	rs184954504	0.0037	0.0037	0.0037	0.0037	0.0027	0.0036	0.0036	0.0026	0.0026	0.0007	0.0015	0.0297	0.0001	0.0218	0.0016	0.0027	0.0052	0.0008	0.0040	0.0040	0.0034	0.0046	0.0034	0.0038	0.0036	0.0030	0.0029	0.0006	0	0.0018	0.0300	0.0002	0.0201	0.0068	0.0034	0.0028	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.044175	0.23665	N	0.410909	1	0.08975	N	-1.79	0.00298	N	-4.17	0.96855	D	1.52	0.00719	N	0.049	0.02088	-0.2388	0.76657	T	0.372	0.73076	T	10	0.0034108162	0.00060	T	.	.	.	0.211	0.50185	.	.	0.151262610727	0.14761	0.1295867700900733	0.12883	0.0431978750673	0.04656	0.289348304272	0.08827	T	7.31E-4	0.00340	T	-0.389453	0.02712	T	-0.328612	0.41624	T	0.000257242264318701	0.00002	T	0.258674	0.04115	T	0.026026564	0.01609	0.033823755	0.02343	0.026026564	0.01608	0.033823755	0.02343	-2.175	0.03921	T	.	.	0.066	0.04599	B	.;.	.;.	-0.885147	0.00951	0.037	0.65477199789139873	0.07784	0.01384	0.04710	N	AEFDBCI	0.014200	0.00216	N	-1.94785901455332	0.00273	0.01171553	-1.8482407442201	0.00617	0.02740584	0.250523101359692	0.18675	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	-2.93	0.05261	-0.072000	0.11446	0.150000	0.15280	-0.655000	0.04372	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.415:0.2735:0.3115:0.0	5.302	0.15091	552	0.72024	Protein of unknown function DUF3715;Protein of unknown function DUF3715	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.050000	0.000000	0.003049	0.000000	0.05	2015.43	65	chr10	5746410	.	G	A	2015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.2;DP=590;ExcessHet=0;FS=2.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.882;SOR=0.941	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1230	9	0	1	0
chr10	5747455	5747455	T	G	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.T3791G:p.V1264G,TASOR2:NM_017782:exon15:c.T4034G:p.V1345G,TASOR2:NM_001321783:exon16:c.T4034G:p.V1345G,TASOR2:NM_001321784:exon16:c.T4034G:p.V1345G	.	437	1066	19	0	0	19	0.0088331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0041	0.0181709	0.0108	0.0012	0.0032	0.0285	0.0026	0.0049	0.0167	0.0394	0.0101486	1569	154602	rs76183460	0.0077	0.0077	0.0069	0.0086	0.0355	0.0076	0.0075	0.0344	0.0340	0.0010	0.0032	0.0021	0.0270	0.0040	0.0238	0.0055	0.0077	0.0355	0.0061	0.0061	0.0054	0.0069	0.0449	0.0058	0.0057	0.0400	0.0382	0.0009	0	0.0072	0.0017	0.0297	0.0034	0.0408	0.0049	0.0142	0.0449	0.0	0.91255	D	0.002	0.79402	D	0.099	0.25639	B	0.025	0.20508	B	0.593460	0.11027	N	0.776677	0.999996	0.08975	N	1.59	0.40313	L	3.27	0.06602	T	-2.18	0.49187	N	0.089	0.06720	-0.9771	0.35660	T	0.007	0.02244	T	10	0.002009362	0.00028	T	.	.	.	0.026	0.05648	.	.	.	.	0.25456966302251127	0.25370	0.100852803616	0.11398	0.278777122498	0.07323	T	0.003533	0.02940	T	-0.566507	0.00232	T	-0.558662	0.16503	T	0.0173739857580772	0.00475	T	0.256074	0.03980	T	0.13050285	0.30450	0.11904356	0.28735	0.13050285	0.30449	0.11904356	0.28734	-3.872	0.21884	T	.	.	0.158	0.35013	B	.;.	.;.	0.958982	0.13353	9.858	0.96301975793306172	0.29351	0.24839	0.22517	N	AEFBCI	0.044183	0.07077	N	-0.875814062018446	0.11420	0.5510038	-0.931147095918016	0.11361	0.5783042	0.992903656263109	0.33012	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.34	1.87	0.24559	0.021000	0.13381	0.249000	0.16404	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.2623:0.0:0.7377	5.724	0.17272	548	0.72362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.05	1234.43	107	chr10	5747455	.	T	G	1234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.047;SOR=0.698	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	9	0	1	0
chr10	5748766	5748766	C	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C5102T:p.T1701I,TASOR2:NM_017782:exon15:c.C5345T:p.T1782I,TASOR2:NM_001321783:exon16:c.C5345T:p.T1782I,TASOR2:NM_001321784:exon16:c.C5345T:p.T1782I	.	427	1076	19	0	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0043	0.0179712	0.0107	0.0012	0.0032	0.0280	0.0026	0.0049	0.0167	0.0388	0.010181	1574	154602	rs11593253	0.0077	0.0077	0.0068	0.0085	0.0351	0.0075	0.0075	0.0341	0.0336	0.0010	0.0032	0.0021	0.0266	0.0040	0.0239	0.0055	0.0077	0.0351	0.0061	0.0061	0.0054	0.0068	0.0446	0.0057	0.0056	0.0397	0.0378	0.0009	0	0.0071	0.0017	0.0288	0.0034	0.0408	0.0049	0.0137	0.0446	0.018	0.50676	D	0.063	0.45110	T	0.244	0.31025	B	0.047	0.24832	B	0.098691	0.02526	N	1.815620	1	0.08975	N	1.245	0.31408	L	3.62	0.04399	T	-1.22	0.30964	N	0.077	0.05162	-0.9686	0.37489	T	0.004	0.01400	T	10	0.0025873482	0.00039	T	.	.	.	0.031	0.07369	.	.	.	.	0.13360966107473615	0.13284	0.0466299950202	0.05070	0.256282418966	0.04458	T	0.003556	0.02960	T	-0.663613	0.00060	T	-0.69885	0.05888	T	0.00554423586375245	0.00060	T	0.506949	0.16072	T	0.0592729	0.12027	0.057171863	0.10345	0.0592729	0.12027	0.057171863	0.10345	-4.004	0.23864	T	.	.	0.125	0.38281	B	.;.	.;.	1.089395	0.14728	11.28	0.97467160101788519	0.34115	0.15034	0.18711	N	ALL	0.049726	0.08621	N	-0.824205188460949	0.12693	0.6203526	-0.840277522186012	0.13521	0.7018809	0.999999224801115	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.83	2.88	0.32617	0.209000	0.17231	1.134000	0.24350	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.1787:0.6488:0.1725:0.0	8.255	0.30908	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.005051	0.014946	0.035088	0.050000	0.068966	0.006098	0.018939	0.05	1315.43	79	chr10	5748766	.	C	T	1315.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=525;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.784;SOR=0.75	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr10	5749089	5749089	G	A	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.G5425A:p.E1809K,TASOR2:NM_017782:exon15:c.G5668A:p.E1890K,TASOR2:NM_001321783:exon16:c.G5668A:p.E1890K,TASOR2:NM_001321784:exon16:c.G5668A:p.E1890K	.	434	1074	12	2	0	16	0.00739372	.	.	.	3324496	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.00456914830371	0.0011	0.000399361	0.0013	0.0004	0.0022	0	0.0002	0.0016	0.0067	0.0012	0.0012872	199	154602	rs200299323	0.0012	0.0012	0.0011	0.0012	0.0146	0.0011	0.0011	0.0121	0.0111	0.0016	0.0024	0.0047	0	3.745e-05	0.0146	0.0010	0.0025	0.0007	0.0014	0.0014	0.0014	0.0014	0.0054	0.0013	0.0012	0.0044	0.0041	0.0003	0	0.0054	0.0043	0	0	0.0136	0.0013	0.0047	0.0004	0.051	0.39334	T	0.015	0.61642	D	0.998	0.73220	D	0.738	0.55619	P	0.004304	0.33881	N	0.209711	0.999999	0.08975	N	1.9	0.50570	L	3.35	0.05989	T	-1.5	0.36586	N	0.093	0.07262	-1.1272	0.01921	T	0.042	0.17994	T	10	0.0059395432	0.00133	T	0.004569	0.11283	T	0.133	0.36157	.	.	0.151262610727	0.14761	0.5197509960107242	0.51898	0.0874988507201	0.09869	0.339342087507	0.16339	T	0.010961	0.09835	T	-0.524814	0.00412	T	-0.532183	0.19068	T	0.0347989773814077	0.02775	T	0.672333	0.28093	T	0.0847563	0.19631	0.09168107	0.21567	0.0847563	0.19631	0.09168107	0.21566	-3.826	0.21193	T	.	.	0.106	0.31279	B	.;.	.;.	2.124790	0.27051	17.33	0.9901659741988954	0.50484	0.75437	0.36935	D	AEFDBCI	0.076605	0.15415	N	0.252431113406874	0.53758	3.543461	0.158344710920385	0.47585	2.986609	0.999999999055616	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	2.956000	0.48822	3.863000	0.40147	0.676000	0.76740	0.829000	0.30118	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	16.820	0.85607	543	0.72751	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.030303	0.032609	0.020468	0.000000	0.008621	0.012195	0.015152	0.05	2303.43	167	chr10	5749089	.	G	A	2303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.322;DP=553;ExcessHet=0;FS=1.926;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.866;SOR=0.854	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr10	5977813	5977813	C	T	exonic	IL15RA	.	nonsynonymous SNV	IL15RA:NM_001351095:exon2:c.G226A:p.E76K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.839e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	165.68	10	chr10	5977813	.	C	T	165.68	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=75;ExcessHet=0;FS=0;InbreedingCoeff=-0.0719;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=0.935;SOR=0.693	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,158	9	0	1	0
chr10	7576593	7576593	C	T	exonic	ITIH5	.	nonsynonymous SNV	ITIH5:NM_032817:exon6:c.G1196A:p.R399H,ITIH5:NM_001001851:exon10:c.G1838A:p.R613H,ITIH5:NM_030569:exon10:c.G1838A:p.R613H	.	429	1074	19	0	0	19	0.00876788	.	.	.	724067	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00277705274274	0.0025	0.00119808	0.0024	0.0006	0.0009	0	0.0015	0.0032	0.0011	0.0030	0.0023027	356	154602	rs148811531	0.0025	0.0025	0.0025	0.0025	0.0071	0.0024	0.0024	0.0054	0.0048	0.0010	0.0015	0.0044	0	0.0019	0.0071	0.0026	0.0025	0.0030	0.0020	0.0020	0.0020	0.0021	0.0026	0.0019	0.0018	0.0023	0.0022	0.0008	0	0.0024	0.0055	0	0.0024	0.0034	0.0026	0.0047	0.0021	0.749	0.04864	T	0.778	0.07444	T	0.0	0.02946	B	0.0	0.01387	B	0.025196	0.26132	N	0.466802	1	0.08975	N	.	.	.	1.59	0.28836	T	1.8	0.00513	N	0.055	0.03283	-0.9800	0.35002	T	0.027	0.11663	T	9	0.010210663	0.00228	T	0.002777	0.05781	T	0.061	0.17616	.	.	0.0551355673512	0.04727	0.37570074253142405	0.37484	.	.	0.206901490688	0.00687	T	0.003161	0.02566	T	-0.64418	0.00079	T	-0.700518	0.05797	T	0.000670027541734186	0.00006	T	0.786621	0.43457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01577	B	.;.;.	.;.;.	0.111307	0.05106	1.638	0.46584350116879147	0.03742	0.08431	0.14361	N	AEFDBI	0.150150	0.27438	N	-1.16588580509595	0.05523	0.2520297	-1.16274024222796	0.06541	0.3152244	0.773206773292317	0.23708	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.2	-2.14	0.06725	1.149000	0.31238	-2.371000	0.03838	-0.850000	0.02721	0.976000	0.34826	0.000000	0.08366	0.004000	0.06068	0.0:0.1385:0.0:0.8615	11.537	0.49894	975	0.05339	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.007576	0.05	1248.43	35	chr10	7576593	.	C	T	1248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.656;DP=557;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.006;SOR=0.495	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1104	9	0	1	0
chr10	7744255	7744255	G	T	exonic	ITIH2	.	nonsynonymous SNV	ITIH2:NM_002216:exon18:c.G2383T:p.D795Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0301338539732	.	0.000199681	4.943e-05	0	8.637e-05	0	0	0	0	0.0003	4.53e-05	7	154602	rs541401394	3.558e-05	3.557e-05	1.498e-05	5.639e-05	0.0006	2.763e-05	2.502e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0006	1.97e-05	1.969e-05	1.285e-05	2.687e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.018e-05	0	0	0	0	0	0	0	0	0	0.0006	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	0.000363	0.45194	D	0.186725	0.975877	0.39226	D	3.145	0.88303	M	2.61	0.13095	T	-5.62	0.86758	D	0.756	0.77039	-0.8183	0.54040	T	0.137	0.45280	T	10	0.7614981	0.76380	D	0.030134	0.52511	D	0.259	0.57090	0.707	0.84327	0.461323234107	0.45759	0.6319655510411962	0.63130	0.513273322705	0.49325	0.445955276489	0.31392	T	0.116304	0.43554	T	-0.201927	0.20526	T	-0.205865	0.54091	T	0.863491177558899	0.51373	D	0.831417	0.49863	T	0.7289076	0.79662	0.73305845	0.84225	0.7289076	0.79663	0.73305845	0.84226	-5.685	0.43560	T	.	.	0.172	0.37671	B	.;.	.;.	4.058012	0.60201	24.2	0.98924334155265581	0.48620	0.82637	0.41837	D	AEFBCI	0.902850	0.85124	D	0.704977653145886	0.79959	7.18928	0.598961848460565	0.74863	6.210392	0.21181762207798	0.18249	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.664235	0.64389	0	.	.	5.52	5.52	0.82153	4.653000	0.61156	11.672000	0.94114	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	17.637	0.88026	845	0.36510	Inter-alpha-trypsin inhibitor heavy chain, C-terminal;Inter-alpha-trypsin inhibitor heavy chain, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	457.43	37	chr10	7744255	.	G	T	457.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=370;ExcessHet=0;FS=1.19;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=0.643;SOR=1.048	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	9	0	1	0
chr10	11852196	11852196	G	A	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon2:c.G119A:p.R40H	.	430	1077	14	1	0	16	0.00737327	.	.	.	712187	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.226	.	0.0049	0.00339457	0.0039	0.0008	0.0018	0	0.0020	0.0056	0.0079	0.0031	0.004062	628	154602	rs148688412	0.0058	0.0058	0.0059	0.0057	0.0068	0.0057	0.0057	0.0067	0.0067	0.0009	0.0022	0.0021	2.531e-05	0.0016	0.0068	0.0068	0.0047	0.0034	0.0041	0.0041	0.0045	0.0037	0.0069	0.0038	0.0037	0.0064	0.0062	0.0011	0	0.0036	0.0023	0	0.0017	0.0136	0.0069	0.0043	0.0033	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.001621	0.38439	N	0.000000	0.937756	0.26882	N	1.995	0.54099	M	0.65	0.52642	T	-1.39	0.69357	N	0.458	0.49874	-0.7862	0.55950	T	0.156	0.48721	T	10	0.008751839	0.00198	T	.	.	.	0.226	0.52472	.	.	0.456738291233	0.45297	0.1937427559194585	0.19292	1.14202095503	0.78959	0.490397691727	0.37494	T	0.075242	0.42976	T	-0.391807	0.02619	T	-0.329324	0.41544	T	0.0203466986659711	0.00734	T	0.840716	0.51609	T	0.10595122	0.25051	0.0660861	0.13486	0.10595122	0.25051	0.0660861	0.13485	-4.494	0.31162	T	.	.	0.201	0.42462	B	.;.;.	.;.;.	4.573835	0.72187	25.8	0.9989447972476122	0.96742	0.88270	0.48122	D	AEFDBI	0.372307	0.45800	N	0.295864306804487	0.55938	3.758007	0.204449357542239	0.50094	3.205081	0.0655128867257868	0.15363	0.562547	0.31514	0	0.610034	0.51514	0	0.26897	0.05253	2	0.635551	0.53088	0	.	.	5.51	4.61	0.56724	4.669000	0.61269	4.394000	0.43224	0.676000	0.76740	1.000000	0.71638	0.992000	0.31684	0.046000	0.14843	0.0925:0.0:0.9075:0.0	10.161	0.42024	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.007576	0.05	818.43	34	chr10	11852196	.	G	A	818.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.77;ReadPosRankSum=-0.868;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1360	9	0	1	0
chr10	11870207	11870207	C	T	exonic	PROSER2	.	nonsynonymous SNV	PROSER2:NM_153256:exon4:c.C1109T:p.P370L	.	408	1111	3	0	0	3	0.00134831	.	.	.	3588170	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.0953673294743	.	.	0.0001	0	0	0	.	0	0	0.0002	1.29e-05	2	154602	rs772055425	1.718e-05	2.189e-05	1.179e-05	2.272e-05	0.0002	1.144e-05	9.56e-06	4.352e-05	3.074e-05	0	0	0	0	0	0.0002	1.321e-05	1.801e-05	9.291e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.74150	D	0.997	0.70673	D	0.884	0.62758	P	0.000379	0.45194	D	0.098161	0.999232	0.22978	N	1.965	0.53209	M	0.03	0.62183	T	-5.47	0.86914	D	0.432	0.62611	-0.6078	0.64495	T	0.328	0.69589	T	10	0.32850927	0.50118	T	0.095367	0.76416	D	0.160	0.41473	0.271	0.22052	0.495640347216	0.49198	0.2642938035880871	0.26342	1.01917520793	0.75045	0.569499731064	0.48607	T	0.222645	0.62037	T	-0.0199108	0.48867	T	-0.266377	0.48185	T	0.92353492975235	0.58423	D	0.631037	0.24617	T	0.3220779	0.54815	0.29057714	0.55081	0.3220779	0.54815	0.29057714	0.55080	-6.014	0.46397	T	.	.	0.186	0.42906	B	.;.;.	.;.;.	3.574334	0.50354	22.9	0.99754510101642901	0.84537	0.81114	0.40587	D	AEFDBCIJ	0.440126	0.49882	N	0.257954547566708	0.54034	3.57002	0.163276688899704	0.47849	3.009102	0.999999945075553	0.74766	0.685219	0.55550	0	0.578056	0.33634	0	0.674405	0.61402	0	0.635551	0.53088	0	.	.	5.07	5.07	0.68106	4.314000	0.58957	4.733000	0.44564	0.462000	0.21616	0.978000	0.35038	0.997000	0.33255	0.015000	0.10482	0.0:1.0:0.0:0.0	15.589	0.76254	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	363.43	39	chr10	11870207	.	C	T	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.093;DP=308;ExcessHet=0;FS=5.188;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.553;SOR=0.976	GT:AD:DP:GQ:PL	0/1:16,18:34:99:375,0,324	9	0	1	0
chr10	12001769	12001769	C	G	exonic	UPF2	.	nonsynonymous SNV	UPF2:NM_015542:exon6:c.G1561C:p.E521Q,UPF2:NM_080599:exon6:c.G1561C:p.E521Q	.	441	1077	4	0	0	4	0.00185357	.	.	.	701215	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.055	0.0115735380545	0.0052	0.00179712	0.0047	0.0012	0.0024	0	0.0009	0.0075	0.0023	0.0014	0.0046765	723	154602	rs118004016	0.0061	0.0061	0.0062	0.0059	0.0073	0.0060	0.0059	0.0071	0.0071	0.0010	0.0024	0.0054	0	0.0017	0.0026	0.0073	0.0053	0.0009	0.0039	0.0040	0.0044	0.0035	0.0069	0.0037	0.0036	0.0064	0.0062	0.0014	0	0.0018	0.0063	0.0002	0.0009	0	0.0069	0.0028	0.0010	0.135	0.26192	T	0.102	0.38450	T	0.155	0.28155	B	0.064	0.27215	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.97	0.22067	T	-1.37	0.33998	N	0.276	0.31365	-1.1157	0.02622	T	0.040	0.17277	T	10	0.008239508	0.00187	T	0.011574	0.29327	T	0.055	0.15663	.	.	0.445544589891	0.44177	0.41234901816517877	0.41150	0.659821582233	0.58827	0.677614569664	0.63926	T	0.048488	0.28032	T	-0.442075	0.01257	T	-0.403641	0.32960	T	0.0393251865609451	0.03568	T	0.911809	0.68723	D	0.2728143	0.50350	0.18171048	0.41052	0.2728143	0.50350	0.18171048	0.41051	-5.506	0.41923	T	.	.	0.375	0.58126	A	.;.;.	.;.;.	3.952703	0.57923	23.9	0.99422475987950754	0.63838	0.99389	0.95397	D	AEFBI	0.719506	0.67037	D	0.159163047645419	0.49246	3.127194	0.329092725220834	0.57255	3.89066	0.999995406938031	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.41	5.41	0.78313	6.821000	0.75062	6.001000	0.52488	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.153	0.93480	616	0.66398	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1083.43	35	chr10	12001769	.	C	G	1083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.739;DP=420;ExcessHet=0;FS=3.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.082;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	9	0	1	0
chr10	12089128	12089128	C	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon5:c.C860A:p.P287H	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.148822165553	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466580366	3.42e-06	3.42e-06	2.722e-06	4.125e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.047471	1	0.81001	D	4.485	0.98931	H	2.48	0.14657	T	-8.57	0.97914	D	0.973	0.98368	-0.3303	0.74124	T	0.192	0.54463	T	10	0.94331145	0.93656	D	0.148822	0.83070	D	0.460	0.75755	0.766	0.89373	0.333906830038	0.33007	0.8404826852239251	0.84008	0.592714171257	0.54648	0.611454367638	0.54522	T	0.589454	0.86678	D	0.0648841	0.60220	T	-0.144575	0.59720	T	0.999790012836456	0.99036	D	0.957004	0.97117	D	0.97445446	0.98659	0.9525111	0.98549	0.97445446	0.98659	0.9525111	0.98550	-14.617	0.94889	D	0.9318885503713328	0.97239	0.980	0.91221	P	.;.	.;.	4.112867	0.61418	24.3	0.9961966012623229	0.75353	0.97332	0.74083	D	AEFDBI	0.863850	0.78249	D	0.75022465993534	0.82919	7.883394	0.58241640972932	0.73679	6.010266	0.999578823480067	0.40495	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.5	0.54382	6.088000	0.71022	7.575000	0.60810	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.1403:0.8597:0.0:0.0	15.404	0.74586	679	0.60090	Dehydrogenase, E1 component;Dehydrogenase, E1 component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1505.43	78	chr10	12089128	.	C	A	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.591;DP=634;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-1.218;SOR=0.725	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	9	0	1	0
chr10	12097966	12097966	G	A	exonic	DHTKD1	.	nonsynonymous SNV	DHTKD1:NM_018706:exon8:c.G1641A:p.M547I	2-aminoadipic 2-oxoadipic aciduria, Autosomal recessive	8	1508	5	1	0	7	0.00231558	.	.	.	712197	Inborn_genetic_diseases|not_provided|2-aminoadipic_2-oxoadipic_aciduria|DHTKD1-related_disorder	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008774,MedGen:C1859817,OMIM:204750,Orphanet:79154|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	.	0.00239617	0.0011	0	0	0	0	4.528e-05	0	0.0080	0.0009185	142	154602	rs561793789	0.0006	0.0006	0.0004	0.0008	0.0088	0.0005	0.0005	0.0083	0.0080	0	0	0	5.043e-05	0	0.0005	4.591e-05	0.0004	0.0088	0.0003	0.0003	0.0002	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0095	0.919	0.02315	T	0.615	0.07568	T	0.0	0.02946	B	0.0	0.01387	B	0.001796	0.37998	N	0.338572	0.976812	0.39310	D	0.055	0.08163	N	3.68	0.04151	T	0.99	0.01428	N	0.283	0.32037	-0.9036	0.47606	T	0.010	0.03627	T	10	0.008712381	0.00197	T	.	.	.	0.057	0.16321	0.382	0.39970	0.115124310173	0.11017	0.45878871963889706	0.45796	0.125106345075	0.14101	0.338500529528	0.16214	T	2.96E-4	0.00073	T	-0.594206	0.00158	T	-0.621044	0.11103	T	0.00358983247420314	0.00038	T	0.811819	0.46320	T	0.06356776	0.13397	0.06767862	0.14035	0.0817603	0.18801	0.077568375	0.17293	-6.928	0.53507	T	0.09961865830293468	0.07256	0.154	0.34183	B	.	.	0.072865	0.04809	1.415	0.56396157080526144	0.05543	0.91401	0.53459	D	AEFDBHIJ	0.584361	0.58322	D	-0.548287536112522	0.20538	1.083387	-0.399089813346918	0.25024	1.373761	0.997384729837249	0.35561	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.47	3.6	0.40374	1.331000	0.33398	1.566000	0.27387	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.495000	0.28905	0.1397:0.0:0.8603:0.0	12.308	0.54237	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1487.43	33	chr10	12097966	.	G	A	1487.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.643;DP=465;ExcessHet=0;FS=4.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.42;SOR=1.225	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr10	12998442	12998442	-	T	exonic	CCDC3	.	frameshift insertion	CCDC3:NM_031455:exon2:c.444dupA:p.E149Rfs*8,CCDC3:NM_001282658:exon6:c.69dupA:p.E24Rfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	756.39	35	chr10	12998442	.	C	CT	756.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.4;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-0.395;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1052	9	0	1	0
chr10	13192360	13192360	C	T	exonic	MCM10	.	nonsynonymous SNV	MCM10:NM_018518:exon12:c.C1622T:p.A541V,MCM10:NM_182751:exon12:c.C1625T:p.A542V	.	427	1094	1	0	0	1	0.00045683	.	.	.	701255	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0034	0.00379393	0.0011	0.0117	0.0004	0	0	8.993e-05	0	0	0.0010284	159	154602	rs114656409	0.0004	0.0004	0.0005	0.0003	0.0131	0.0004	0.0004	0.0121	0.0117	0.0131	0.0008	0	0	0	0.0002	3.329e-05	0.0009	2.327e-05	0.0033	0.0033	0.0035	0.0031	0.0114	0.0031	0.0030	0.0106	0.0102	0.0114	0	0.0012	0	0	0	0	4.41e-05	0.0033	0	0.366	0.11696	T	0.512	0.10785	T	0.0	0.02946	B	0.001	0.06944	B	0.265978	0.03741	N	1.371380	1	0.08975	N	0.625	0.15840	N	1.5	0.31205	T	-0.65	0.18877	N	0.03	0.00882	-1.0377	0.18016	T	0.015	0.06282	T	10	0.004601985	0.00096	T	.	.	.	0.032	0.07718	.	.	0.229924730088	0.22615	0.15392296973570052	0.15314	0.101500639394	0.11486	0.26300022006	0.05252	T	0.040551	0.25566	T	-0.689274	0.00042	T	-0.75184	0.03414	T	0.000861541235349673	0.00008	T	0.475952	0.14261	T	0.013979161	0.00076	0.026121147	0.00685	0.013979161	0.00076	0.026121147	0.00685	-4.408	0.30136	T	.	.	0.091	0.13032	B	.;.;.	.;.;.	1.137089	0.15243	11.70	0.47236871072844461	0.03846	0.19675	0.20752	N	AEFBI	0.081820	0.16561	N	-1.23257055854503	0.04535	0.2048546	-1.16671731340399	0.06473	0.3116936	8.81756434150225E-5	0.04703	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.52	1.54	0.22290	1.254000	0.32500	1.355000	0.25837	-0.214000	0.08267	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.151:0.5159:0.0:0.3331	4.523	0.11372	878	0.29785	.;Replication factor Mcm10, C-terminal|Replication factor Mcm10, C-terminal;Replication factor Mcm10, C-terminal|Replication factor Mcm10, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1686.43	36	chr10	13192360	.	C	T	1686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.535;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr10	13656924	13656929	CGCCGC	-	exonic	FRMD4A	.	nonframeshift deletion	FRMD4A:NM_001318338:exon11:c.1733_1738del:p.G578_G579del,FRMD4A:NM_001318336:exon21:c.2708_2713del:p.G903_G904del,FRMD4A:NM_001318337:exon21:c.2759_2764del:p.G920_G921del,FRMD4A:NM_018027:exon22:c.2660_2665del:p.G887_G888del	.	406	1114	2	0	0	2	0.000896861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0005	0	0	5.222e-05	0	0.0005	3.84e-05	1	26028	rs772283361	3.491e-05	3.899e-05	1.619e-05	5.396e-05	0.0004	2.69e-05	2.411e-05	0.0003	0.0003	0.0001	0	0	0	0	0.0002	5.65e-06	7.231e-05	0.0004	3.976e-05	3.941e-05	5.184e-05	2.712e-05	0.0006	1.727e-05	1.137e-05	0.0002	8.985e-05	4.826e-05	0	0	0	0	0	0	1.48e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5172.09	89	chr10	13656923	.	TCGCCGC	T	5172.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=532;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.2;ReadPosRankSum=1.74;SOR=0.68	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1258	9	0	1	0
chr10	13656924	13656926	CGC	-	exonic	FRMD4A	.	nonframeshift deletion	FRMD4A:NM_001318338:exon11:c.1736_1738del:p.G579del,FRMD4A:NM_001318336:exon21:c.2711_2713del:p.G904del,FRMD4A:NM_001318337:exon21:c.2762_2764del:p.G921del,FRMD4A:NM_018027:exon22:c.2663_2665del:p.G888del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0080	.	0.0002	0	0	0	0.0011	0.0002	0	0.0005	3.84e-05	1	26028	rs748566561	7.433e-05	0.0006	6.482e-05	8.401e-05	0.0002	6.207e-05	5.787e-05	8.247e-05	5.69e-05	0.0001	0.0002	0.0003	9.854e-05	0.0001	0	5.654e-05	0.0001	0.0001	6.626e-06	5.911e-05	0	1.356e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5172.09	89	chr10	13656923	.	TCGC	T	5172.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=532;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.2;ReadPosRankSum=1.74;SOR=0.68	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1258	9	0	1	0
chr10	14837871	14837871	C	A	exonic	CDNF	.	nonsynonymous SNV	CDNF:NM_001029954:exon1:c.G76T:p.G26C	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1085.43	33	chr10	14837871	.	C	A	1085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.152;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=0.259;SOR=0.606	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	9	0	1	0
chr10	15254845	15254845	T	G	exonic	FAM171A1	.	nonsynonymous SNV	FAM171A1:NM_001010924:exon4:c.A453C:p.R151S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0384843318121	0.0002	0.000199681	9.108e-05	0	0	0	0	9.032e-05	0	0.0003	7.76e-05	12	154602	rs141312276	9.441e-05	9.44e-05	8.44e-05	0.0001	0.0016	8.135e-05	7.651e-05	0.0008	0.0006	0	8.945e-05	3.826e-05	0	0	0.0016	7.285e-05	0.0002	0.0004	9.192e-05	9.186e-05	7.709e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.992e-05	0	0	0.0002	0	0	0	0	8.82e-05	0.0009	0.0006	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999826	0.49512	D	2.585	0.75554	M	0.98	0.42122	T	-3.96	0.73579	D	0.914	0.91621	-0.6677	0.61932	T	0.203	0.55975	T	10	0.7003955	0.72406	D	0.038484	0.58251	D	0.458	0.75619	0.767	0.89452	0.444421179237	0.44065	0.8194690643763637	0.81903	0.911059692479	0.71063	0.602344751358	0.53236	T	0.241091	0.60954	T	-0.00641586	0.50765	T	0.0533315	0.73803	D	0.502892076969147	0.32735	D	0.938506	0.76886	D	0.8466512	0.87089	0.807068	0.88714	0.8466512	0.87090	0.807068	0.88715	-7.885	0.60284	D	.	.	0.938	0.85740	P	.	.	3.201870	0.43545	21.8	0.99431174282999113	0.64276	0.45154	0.27476	N	AEFDBHCI	0.173400	0.30048	N	-0.0873509381919131	0.37947	2.215149	-0.31406663526196	0.27644	1.535	0.99994705611437	0.47345	0.766844	0.99359	0	0.552344	0.17405	0	0.851219	0.99655	0	0.735409	0.98432	0	.	.	5.11	-5.26	0.02559	-0.076000	0.11374	0.001000	0.13291	0.665000	0.62972	0.809000	0.29839	0.273000	0.24060	0.998000	0.85391	0.0:0.3526:0.0:0.6474	13.881	0.63185	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	838.43	33	chr10	15254845	.	T	G	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=381;ExcessHet=0;FS=2.21;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.223;SOR=1.061	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1095	9	0	1	0
chr10	16915037	16915037	A	G	exonic	CUBN	.	nonsynonymous SNV	CUBN:NM_001081:exon47:c.T7346C:p.M2449T	Megaloblastic anemia-1, Finnish type, Autosomal recessive	1	1500	21	0	0	21	0.00695134	.	.	.	459738	Imerslund-Grasbeck_syndrome|not_provided|Imerslund-Grasbeck_syndrome_type_1|CUBN-related_disorder	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858|MedGen:C3661900|MONDO:MONDO:0100156,MedGen:C4016819,OMIM:261100|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00339457	0.0044	0.0005	0.0010	0.0001	0.0002	0.0029	0.01	0.0190	0.0040556	627	154602	rs41301097	0.0033	0.0033	0.0028	0.0038	0.0181	0.0032	0.0032	0.0173	0.0170	0.0005	0.0011	0.0049	2.519e-05	0.0004	0.0084	0.0025	0.0036	0.0181	0.0021	0.0021	0.0021	0.0021	0.0155	0.0019	0.0018	0.0127	0.0117	0.0004	0	0.0004	0.0052	0	0.0002	0	0.0029	0.0019	0.0155	0.581	0.05973	T	0.55	0.09425	T	0.0	0.02946	B	0.001	0.04355	B	0.005953	0.01103	N	2.812850	1	0.08975	N	-0.73	0.01772	N	-0.86	0.74477	T	-0.01	0.07155	N	0.064	0.03613	-0.9600	0.39181	T	0.138	0.45526	T	10	0.0033961833	0.00059	T	.	.	.	0.058	0.16647	.	.	0.467416895013	0.46368	0.3127677485016908	0.31189	0.0900815735264	0.10158	0.21158324182	0.00880	T	0.034805	0.23469	T	-0.626878	0.00100	T	-0.658964	0.08337	T	0.00170003410307051	0.00017	T	0.150085	0.01260	T	0.039272573	0.05391	0.080931626	0.18350	0.039272573	0.05391	0.080931626	0.18349	-2.423	0.05276	T	0.06617062895478984	0.02237	0.064	0.01738	B	.	.	-0.028267	0.04090	0.960	0.17691399163817484	0.00526	0.08649	0.14548	N	AEFGI	0.083061	0.16824	N	-1.22731178148344	0.04608	0.2082969	-1.20217761194516	0.05875	0.2811844	0.677622759163957	0.22443	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.794256	0.99912	0	.	.	5.1	-1.28	0.08834	1.385000	0.34014	0.533000	0.19265	0.684000	0.82519	0.001000	0.13787	0.000000	0.08366	0.065000	0.16320	0.2886:0.3393:0.3721:0.0	4.945	0.13336	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	3081.55	34	chr10	16915037	.	A	G	3081.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.978;DP=448;ExcessHet=0.0405;FS=1.133;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.406;SOR=0.816	GT:AD:DP:GQ:PL	0/1:38,31:69:99:622,0,925	7	1	2	0
chr10	17321030	17321030	T	G	exonic	ST8SIA6	.	nonsynonymous SNV	ST8SIA6:NM_001004470:exon8:c.A1045C:p.T349P,ST8SIA6:NM_001345961:exon9:c.A592C:p.T198P	.	.	.	.	.	.	.	.	.	.	.	3323551	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0172741162593	.	.	9.064e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs200001781	5.131e-05	5.13e-05	4.356e-05	5.913e-05	6.205e-05	4.192e-05	3.823e-05	4.987e-05	4.568e-05	0	2.236e-05	0	0	0	0	6.205e-05	8.279e-05	0	7.228e-05	7.219e-05	7.713e-05	6.72e-05	0.0001	3.971e-05	3.127e-05	6.807e-05	5.089e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.123	0.27544	T	0.056	0.46632	T	0.988	0.62325	D	0.796	0.58006	P	0.004635	0.33547	N	0.372956	1	0.08975	N	2.545	0.74286	M	1.85	0.24472	T	-0.5	0.15782	N	0.126	0.11912	-0.9193	0.45648	T	0.124	0.42694	T	10	0.15977332	0.30012	T	0.017274	0.38900	T	0.209	0.49871	0.543	0.65589	0.425028116352	0.42120	0.6001936262529679	0.59950	0.234047298348	0.25940	0.391147613525	0.23832	T	0.006823	0.06247	T	-0.259356	0.12976	T	-0.384622	0.35181	T	0.322705049179757	0.25931	T	0.738826	0.35731	T	0.10624513	0.25122	0.1420453	0.33806	0.10624513	0.25122	0.1420453	0.33805	-11.299	0.81272	D	.	.	0.341	0.55950	A	.	.	4.088153	0.60867	24.3	0.994365616396782	0.64522	0.93069	0.57249	D	AEFGBI	0.559498	0.56829	D	0.338042495215457	0.58111	3.981604	0.2261429026486	0.51304	3.313974	5.89381941672762E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.48	4.35	0.51454	1.497000	0.35257	4.864000	0.45499	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.963000	0.52385	0.147:0.15:0.0:0.7031	4.832	0.12808	861	0.33516	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1789.43	33	chr10	17321030	.	T	G	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=492;ExcessHet=0;FS=3.629;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.16;SOR=0.464	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1101	9	0	1	0
chr10	17590378	17590378	C	G	exonic	HACD1	.	nonsynonymous SNV	HACD1:NM_014241:exon7:c.G853C:p.E285Q	.	.	.	.	.	.	.	.	.	.	.	1291989	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.011016059543	.	.	0.0001	0	0	0	0	0	0	0.0009	0.0001035	16	154602	rs556888412	4.851e-05	4.857e-05	2.07e-05	7.654e-05	0.0008	3.91e-05	3.586e-05	0.0007	0.0006	0	0	0	0	0	0	9.096e-07	0	0.0008	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.018	0.50676	D	0.021	0.58089	D	0.965	0.56013	D	0.608	0.51027	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.1	0.28011	L	2.6	0.13204	T	-0.71	0.20145	N	0.414	0.45426	-1.1818	0.00344	T	0.052	0.22269	T	10	0.13125339	0.24980	T	0.011016	0.28208	T	0.140	0.37593	0.205	0.12076	0.289847578895	0.28608	0.5755462287705388	0.57483	0.907024850902	0.70884	0.753566265106	0.74973	T	0.010	0.08729	T	-0.353714	0.04498	T	-0.365135	0.37457	T	0.281701526701767	0.24243	T	0.909409	0.67928	D	0.3738103	0.58865	0.26701367	0.52553	0.3738103	0.58865	0.26701367	0.52552	-3.949	0.23038	T	.	.	0.181	0.39373	B	.	.	4.727091	0.76104	26.5	0.99834893137717506	0.91628	0.97692	0.76450	D	AEFBI	0.789713	0.71882	D	0.508155765928929	0.67570	5.099399	0.55451657047578	0.71710	5.696824	0.999999968892503	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.37	5.37	0.76949	7.373000	0.78878	7.617000	0.62147	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.109	0.93294	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	33	chr10	17590378	.	C	G	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.089;DP=433;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.67;ReadPosRankSum=0.973;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1405	9	0	1	0
chr10	17849602	17849602	C	G	exonic	MRC1	.	nonsynonymous SNV	MRC1:NM_002438:exon7:c.C1087G:p.P363A	.	430	1020	63	9	0	81	0.0381895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0021	0.00479233	0.0094	0.0021	0.0031	0.0003	0.0014	0.0055	0.0168	0.0411	0.0078848	1219	154602	rs200175375	0.0082	0.0082	0.0061	0.0100	0.0385	0.0080	0.0079	0.0373	0.0368	0.0010	0.0035	0.0173	8.318e-05	0.0023	0.0159	0.0042	0.0084	0.0385	0.0045	0.0046	0.0042	0.0049	0.0347	0.0042	0.0041	0.0304	0.0288	0.0008	0.0658	0.0048	0.0176	0.0004	0.0014	0.0102	0.0039	0.0038	0.0347	0.01	0.56456	D	0.028	0.54934	D	0.936	0.52359	P	0.459	0.46380	P	0.000037	0.55875	U	0.000000	0.992972	0.41798	D	2.335	0.66956	M	1.71	0.26737	T	-4.38	0.77143	D	0.435	0.47395	-1.0788	0.07582	T	0.036	0.15726	T	10	0.0075841844	0.00172	T	.	.	.	.	.	.	.	0.319322697148	0.31537	0.5703013650427744	0.56958	.	.	0.556212007999	0.46733	T	0.426274	0.77612	T	-0.221424	0.17798	T	-0.555837	0.16769	T	0.868999540805817	0.51894	D	0.687331	0.29630	T	0.47543982	0.65622	0.26726636	0.52582	0.47543982	0.65623	0.26726636	0.52581	-6.71	0.51886	T	.	.	0.110	0.21353	B	.	.	3.894076	0.56683	23.8	0.95123332018983231	0.26223	0.97998	0.78750	D	AEFI	0.535084	0.55386	D	-0.00417378166605131	0.41667	2.496327	0.00753955804719451	0.40063	2.385124	1.55333678872863E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	3.4	0.38031	4.786000	0.62117	6.017000	0.52736	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.8332:0.1667:0.0	12.540	0.55508	928	0.17405	C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013670	0.000000	0.011080	0.010638	0.000000	0.008772	0.021875	0.030769	0.1	1041.14	33	chr10	17849602	.	C	G	1041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.387;DP=346;ExcessHet=0.2348;FS=0.822;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.17;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1196	8	0	2	0
chr10	17965658	17965658	C	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon3:c.C317T:p.S106F,SLC39A12:NM_001145195:exon4:c.C719T:p.S240F,SLC39A12:NM_001282733:exon4:c.C719T:p.S240F,SLC39A12:NM_152725:exon4:c.C719T:p.S240F	.	0	225	1	0	0	1	0.00221729	.	.	.	3329141	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.033	0.00661248599983	.	0.000199681	8.26e-06	0	0	0	0	1.502e-05	0	0	1.29e-05	2	154602	rs565046397	2.736e-06	2.736e-06	2.723e-06	2.75e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.781	0.03392	T	0.748	0.04842	T	0.006	0.14655	B	0.008	0.19966	B	0.018490	0.27471	N	0.429139	0.968825	0.25783	N	0.295	0.10161	N	-0.05	0.64264	T	-1.74	0.41239	N	0.182	0.24883	-1.0226	0.22866	T	0.120	0.41843	T	10	0.05986923	0.07264	T	0.006612	0.17444	T	0.033	0.08068	0.386	0.40624	0.139678290688	0.13603	0.34401809535962136	0.34315	0.0241457992308	0.02455	0.341167330742	0.16612	T	0.006713	0.06137	T	-0.219857	0.18012	T	-0.48994	0.23397	T	0.0176755131308739	0.00499	T	0.781422	0.41649	T	0.045433775	0.07435	0.06334727	0.12534	0.045433775	0.07434	0.06334727	0.12534	-5.682	0.43533	T	.	.	0.078	0.10111	B	.;.;.;.	.;.;.;.	0.941344	0.13168	9.671	0.1321388255939808	0.00253	0.52460	0.29137	D	AEFDI	0.065223	0.12711	N	-0.825870487356639	0.12650	0.6180332	-0.711420770583789	0.16676	0.8833256	1.53165229337004E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.81	1.3	0.20778	1.184000	0.31663	1.807000	0.28930	-0.313000	0.06017	0.967000	0.34061	0.971000	0.29754	0.084000	0.17470	0.0:0.5556:0.0:0.4444	9.173	0.36254	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	628.43	34	chr10	17965658	.	C	T	628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=371;ExcessHet=0;FS=3.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-1.246;SOR=1.167	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	0	1	0
chr10	17978038	17978038	A	T	exonic	SLC39A12	.	nonsynonymous SNV	SLC39A12:NM_001282734:exon4:c.A486T:p.E162D,SLC39A12:NM_001145195:exon5:c.A888T:p.E296D,SLC39A12:NM_001282733:exon5:c.A888T:p.E296D,SLC39A12:NM_152725:exon5:c.A888T:p.E296D	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.00798361731117	7.7e-05	0.000998403	0.0006	0	0.0002	0	0	0.0004	0	0.0024	0.0005175	80	154602	rs202242091	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0017	0.0014	6.073e-05	0.0004	0.0057	0	0	0.0028	0.0002	0.0010	0.0017	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0011	0.0009	2.404e-05	0	0.0002	0.0075	0	0	0	0.0003	0.0005	0.0021	0.951	0.02141	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.04355	B	0.028645	0.01689	N	1.983260	1	0.08975	N	-2.095	0.00157	N	0.06	0.61798	T	0.3	0.05125	N	0.031	0.01577	-0.9358	0.43272	T	0.056	0.23527	T	10	0.005045712	0.00109	T	0.007984	0.21162	T	0.109	0.30843	0.19	0.10039	0.0401082797425	0.02173	0.20638731976366811	0.20555	0.0222565506231	0.02237	0.287380576134	0.08542	T	2.96E-4	0.00073	T	-0.605244	0.00135	T	-0.647716	0.09115	T	0.00427038519792982	0.00046	T	0.391261	0.11053	T	0.036992066	0.04657	0.03861889	0.03770	0.036992066	0.04656	0.03861889	0.03770	-4.182	0.27241	T	.	.	0.07	0.05404	B	.;.;.;.	.;.;.;.	0.109391	0.05093	1.626	0.052774537234606768	0.00010	0.01333	0.04593	N	AEI	0.018378	0.00552	N	-1.42344569768891	0.02433	0.1074706	-1.31432698951177	0.04244	0.199779	7.06075297900698E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.72	1.79	0.23992	0.344000	0.19703	0.109000	0.14755	-0.174000	0.10959	0.875000	0.30889	0.020000	0.20764	0.008000	0.08271	0.2063:0.4622:0.1962:0.1353	1.828	0.02935	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.000000	0.05	1091.43	35	chr10	17978038	.	A	T	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.548;DP=403;ExcessHet=0;FS=5.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.375;SOR=0.882	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1065	9	0	1	0
chr10	18506518	18506518	G	C	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_000724:exon5:c.G476C:p.S159T,CACNB2:NM_001330060:exon5:c.G476C:p.S159T,CACNB2:NM_201570:exon5:c.G497C:p.S166T,CACNB2:NM_201590:exon5:c.G479C:p.S160T,CACNB2:NM_001167945:exon6:c.G557C:p.S186T,CACNB2:NM_201571:exon6:c.G557C:p.S186T,CACNB2:NM_201572:exon6:c.G557C:p.S186T,CACNB2:NM_201593:exon6:c.G641C:p.S214T,CACNB2:NM_201596:exon6:c.G641C:p.S214T,CACNB2:NM_201597:exon6:c.G641C:p.S214T	Brugada syndrome 4	3	1504	14	1	0	16	0.00529101	.	.	.	171120	Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided|Brugada_syndrome|Long_QT_syndrome	MONDO:MONDO:0013318,MedGen:C3150852,OMIM:613601|MedGen:CN169374|MONDO:MONDO:0012743,MedGen:C2678477,OMIM:611876,Orphanet:130|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.364	0.0586144080112	0.0008	0.00179712	0.0010	0.0004	0.0003	0	0.0006	0.0013	0	0.0014	0.0009508	147	154602	rs149253719	0.0011	0.0011	0.0011	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0002	0.0007	0.0002	0	0.0005	0.0043	0.0012	0.0010	0.0011	0.0009	0.0009	0.0009	0.0009	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0.0003	0	0.0008	0	0.0011	0	0.0025	0.01	0.56456	D	0.14	0.37310	T	0.001	0.29111	B	0.005	0.23121	B	0.000000	0.84330	D	0.036871	0.999943	0.81001	D	0.69	0.16971	N	-1.67	0.82806	D	-1.02	0.32991	N	0.385	0.71587	-0.1607	0.78653	T	0.389	0.74386	T	10	0.01582411	0.00332	T	0.058614	0.67379	D	0.364	0.68407	.	.	0.844391916565	0.84290	0.28888373454370075	0.28801	0.29405852682	0.31822	0.541484892368	0.44656	T	0.122134	0.44559	T	-0.105444	0.35522	T	0.0403822	0.72953	D	0.0248195910384765	0.01249	T	0.80342	0.48145	T	0.3400598	0.56285	0.35522628	0.61054	0.3202374	0.54660	0.42763343	0.66502	-4.12	0.30876	T	0.18382160391911886	0.23814	0.089	0.12084	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	3.142977	0.42517	21.6	0.97678366813792883	0.35300	0.93233	0.57673	D	AEFBHCI	0.850907	0.76775	D	0.191224740741525	0.50776	3.264613	0.392406405374736	0.61097	4.305077	0.606758711883347	0.21771	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.9	5.9	0.94952	7.026000	0.76192	8.623000	0.77819	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.263	0.98454	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.008152	0.000000	0.000000	0.008621	0.003049	0.000000	0.1	1498.14	85	chr10	18506518	.	G	C	1498.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.734;DP=420;ExcessHet=0.2348;FS=2.151;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.057;SOR=0.898	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1046	8	0	2	0
chr10	19280124	19280124	A	C	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.A3157C:p.N1053H	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	.	.	0.00279553	0.0041	0	0	0	0	0	0	0.0102	0.000608	94	154602	rs574597600	0.0007	0.0007	0.0004	0.0010	0.0106	0.0007	0.0006	0.0100	0.0098	0	0	0	0.0001	0	0.0014	4.455e-05	0.0013	0.0106	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	0	0	0.0001	0	0.0006	0	0	4.41e-05	0.0009	0.0114	0.077	0.34095	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-3.8	0.95696	D	-2.23	0.50012	N	0.198	0.21839	-0.0307	0.81616	T	0.710	0.90046	D	5	0.007387638	0.00168	T	.	.	.	0.169	0.43123	.	.	0.479668003354	0.47597	0.23483198360211316	0.23398	.	.	.	.	.	.	.	.	-0.4297	0.01489	T	-0.383046	0.35366	T	0.0349221734059856	0.02795	T	0.377362	0.09032	T	0.045191597	0.07355	0.087837264	0.20442	0.045191597	0.07355	0.087837264	0.20442	-8.327	0.63277	D	.	.	0.084	0.10979	B	.;.	.;.	-0.117283	0.03540	0.677	0.98317798712224336	0.40212	0.03517	0.08699	N	AEFI	0.114549	0.22558	N	-0.634009701347622	0.17930	0.9267867	-0.787671871901121	0.14797	0.7750621	0.00116447144121819	0.08293	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	-4.77	0.02985	-0.632000	0.05587	-1.779000	0.04742	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.928000	0.46473	0.425:0.219:0.3561:0.0	7.515	0.26766	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	595.43	34	chr10	19280124	.	A	C	595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.462;DP=360;ExcessHet=0;FS=1.083;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.726;SOR=0.503	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	9	0	1	0
chr10	19280171	19280171	G	T	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.G3204T:p.Q1068H	.	435	1069	17	1	0	19	0.00880853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	0.00439297	0.0124	0.0019	0.0067	0	0.0012	0.0165	0.0163	0.0149	0.0026455	409	154602	rs75389448	0.0102	0.0098	0.0101	0.0103	0.0159	0.0101	0.0100	0.0133	0.0123	0.0014	0.0042	0.0244	2.818e-05	0.0007	0.0159	0.0108	0.0110	0.0128	0.0071	0.0071	0.0072	0.0069	0.0145	0.0067	0.0066	0.0118	0.0108	0.0022	0.0274	0.0073	0.0282	0.0002	0.0003	0.0136	0.0097	0.0052	0.0145	0.112	0.28900	T	0.007	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.997036	0.22815	N	.	.	.	-3.85	0.95859	D	-2.82	0.59545	D	0.558	0.58287	0.471	0.90138	D	0.786	0.92754	D	5	0.009454995	0.00213	T	.	.	.	0.505	0.78662	.	.	0.597897742083	0.59469	0.5834241005166534	0.58271	.	.	.	.	.	.	.	.	-0.210391	0.19324	T	-0.0639573	0.66053	T	0.0241980826449093	0.01171	T	0.566943	0.20077	T	0.06680292	0.14408	0.2154254	0.46132	0.06680292	0.14407	0.2154254	0.46131	-7.011	0.54114	T	.	.	0.207	0.48766	B	.;.	.;.	3.344621	0.46102	22.2	0.99680637092256863	0.79241	0.85297	0.44417	D	AEFI	0.225199	0.34932	N	-0.0493374536242523	0.39632	2.340	-0.0648164291914355	0.36855	2.150277	5.54155902284327E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.66	0.41111	2.171000	0.42080	5.523000	0.48827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.2358:0.0:0.7642:0.0	9.029	0.35409	923	0.18507	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	559.43	34	chr10	19280171	.	G	T	559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.044;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.878;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	9	0	1	0
chr10	19607878	19607878	-	A	exonic	MALRD1	.	frameshift insertion	MALRD1:NM_001142308:exon35:c.6047dupA:p.L2017Afs*2	.	437	1082	1	2	0	5	0.00230521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0006	0	0	7.12e-05	11	154602	rs766936322	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	3.17e-05	8.407e-05	7.95e-05	0	0	0.0009	0.0002	0.0002	2.525e-05	0.0001	0.0001	0.0002	8.087e-05	0.0002	7.588e-05	6.291e-05	0.0001	9.903e-05	2.415e-05	0	0	0.0003	0	0	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1562.39	35	chr10	19607878	.	C	CA	1562.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.3;DP=492;ExcessHet=0;FS=3.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.048;SOR=0.633	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	9	0	1	0
chr10	20850403	20850403	G	T	exonic	NEBL	.	nonsynonymous SNV	NEBL:NM_006393:exon11:c.C1108A:p.Q370K	.	424	1095	3	0	0	3	0.00136799	.	.	.	174910	NEBL-related_disorder|Primary_dilated_cardiomyopathy|not_specified|not_provided	.|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	0.0216128339977	7.7e-05	0.00179712	0.0010	0	0.0004	0	0	2.998e-05	0.0011	0.0071	0.0008861	137	154602	rs146198369	0.0004	0.0004	0.0003	0.0006	0.0067	0.0004	0.0004	0.0063	0.0061	3.023e-05	0.0002	0	0	0	0.0003	7.298e-06	0.0004	0.0067	0.0002	0.0002	6.426e-05	0.0004	0.0058	0.0002	0.0001	0.0041	0.0036	4.813e-05	0	0.0001	0	0	0	0	1.47e-05	0.0005	0.0058	0.046	0.40573	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.058798	0.995737	0.81001	D	2.8	0.81625	M	0.55	0.54728	T	-3.65	0.69950	D	0.487	0.52119	-0.4560	0.70201	T	0.363	0.72392	T	10	0.011808008	0.00256	T	0.021613	0.44401	T	0.337	0.65913	.	.	0.766946779454	0.76481	0.557365075604494	0.55663	0.0265551599437	0.02714	0.451260536909	0.32116	T	0.16956	0.51698	T	-0.268728	0.11899	T	-0.1552	0.58781	T	0.138007782088624	0.16102	T	0.823718	0.48487	T	0.64151233	0.74911	0.5388201	0.73348	0.64151233	0.74913	0.5388201	0.73348	-10.611	0.77482	D	.	.	0.214	0.44319	B	.	.	4.500152	0.70371	25.5	0.99611285375241365	0.74813	0.96165	0.67831	D	AEFBI	0.920168	0.89174	D	0.819177012656322	0.87289	9.166998	0.785567970590627	0.88770	9.709588	0.570458699236882	0.21488	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.27	5.27	0.73797	7.621000	0.82276	9.796000	0.81670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	18.029	0.89200	907	0.22727	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	607.43	34	chr10	20850403	.	G	T	607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.792;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.965;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1092	9	0	1	0
chr10	23192916	23192916	C	T	exonic	PTF1A	.	nonsynonymous SNV	PTF1A:NM_178161:exon1:c.C386T:p.A129V	Pancreatic agenesis 2, Autosomal recessive;Pancreatic and cerebellar agenesis, Autosomal recessive	13	1498	11	0	0	11	0.00365813	.	.	.	321107	not_provided|Pancreatic_agenesis_2|Permanent_neonatal_diabetes_mellitus-pancreatic_and_cerebellar_agenesis_syndrome	MedGen:C3661900|MONDO:MONDO:0014406,MedGen:C4014737,OMIM:615935,Orphanet:2805|MONDO:MONDO:0012192,MedGen:C1836780,OMIM:609069,Orphanet:65288	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.120	.	.	0.014377	0.0524	0.0278	0	0.0286	.	0	0	0.0690	0.0018628	288	154602	rs370163562	0.0018	0.0021	0.0016	0.0020	0.0372	0.0017	0.0017	0.0354	0.0346	0.0002	8.814e-05	0	0.0296	0	0.0017	2.057e-05	0.0045	0.0372	0.0025	0.0025	0.0018	0.0033	0.0358	0.0023	0.0022	0.0315	0.0299	0.0004	0	0.0005	0	0.0358	0	0	5.937e-05	0.0024	0.0342	0.081	0.33418	T	0.143	0.33219	T	0.014	0.16867	B	0.002	0.06944	B	0.126536	0.18801	N	0.484293	0.999775	0.20412	N	1.1	0.28011	L	-3.54	0.94799	D	-0.88	0.23808	N	0.025	0.00485	-0.3479	0.73614	T	0.572	0.84531	D	10	0.0019993186	0.00028	T	.	.	.	0.120	0.33359	0.214	0.13354	.	.	0.4008269588821423	0.39997	.	.	0.893904864788	0.95737	D	0.14903	0.48785	T	-0.462019	0.00955	T	-0.403578	0.32968	T	0.0166266792733299	0.00422	T	0.430857	0.11714	T	0.032322325	0.03236	0.07671529	0.17018	0.035626147	0.04230	0.089067295	0.20807	-5.821	0.44757	T	0.10791138581265387	0.08837	0.127	0.26947	B	.	.	0.884420	0.12578	9.105	0.97937146522805196	0.36999	0.56661	0.30174	D	AEFDBHCI	0.083560	0.16929	N	-1.04743144514526	0.07638	0.3554936	-1.08253268650605	0.08044	0.3938225	0.999998340303109	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	2.71	1.79	0.23992	0.532000	0.22776	0.064000	0.14171	-0.358000	0.05522	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.208:0.6742:0.0:0.1177	4.883	0.13047	833	0.38804	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002762	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	199.43	15	chr10	23192916	.	C	T	199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=242;ExcessHet=0;FS=1.76;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=-0.42;SOR=1.112	GT:AD:DP:GQ:PL	0/1:15,8:23:99:211,0,386	9	0	1	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H,KIAA1217:NM_001282770:exon2:c.G677A:p.R226H,KIAA1217:NM_001321681:exon2:c.G677A:p.R226H,KIAA1217:NM_001282767:exon6:c.G1523A:p.R508H,KIAA1217:NM_001282768:exon6:c.G1523A:p.R508H,KIAA1217:NM_019590:exon6:c.G1523A:p.R508H,KIAA1217:NM_001098500:exon7:c.G1283A:p.R428H	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.018939	0.1	4153.12	49	chr10	24473904	.	G	A	4153.12	.	AC=2;AF=0.1;AN=20;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.46;SOR=1.341	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	9	1	0	0
chr10	24543238	24543238	C	G	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.C3968G:p.T1323S	.	416	1097	6	3	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0091393955991	.	0.00119808	0.0005	0	0	0	0.0002	6.039e-05	0	0.0036	0.0004722	73	154602	rs199890594	0.0003	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	2.987e-05	0	0	0	0	0.0007	2.788e-05	0.0003	0.0038	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	8.74e-05	0.0019	0.0016	0	0	0.0001	0	0	0	0	8.827e-05	0	0.0031	0.24	0.17701	T	1.0	0.02348	T	0.006	0.17573	B	0.003	0.16460	B	0.073897	0.02281	N	1.807420	1	0.08975	N	1.905	0.50856	L	2.01	0.28836	T	-0.05	0.10656	N	0.048	0.01999	-1.0775	0.07841	T	0.057	0.24018	T	10	0.004551202	0.00094	T	0.009139	0.24036	T	0.019	0.03383	0.262	0.20631	0.190952846119	0.18690	0.25949108646383606	0.25863	0.109122026774	0.12303	0.221402317286	0.01392	T	0.075827	0.35272	T	-0.660599	0.00062	T	-0.724732	0.04570	T	0.0675783231854439	0.08308	T	0.364964	0.08484	T	0.037136853	0.04704	0.02508658	0.00542	0.037136853	0.04704	0.02508658	0.00542	-2.653	0.07079	T	.	.	0.086	0.13080	B	.;.	.;.	0.299556	0.06756	3.267	0.26786485108634533	0.01299	0.22660	0.21821	N	AEFBCI	0.126577	0.24358	N	-1.36717920388515	0.02951	0.1310809	-1.37797892533313	0.03488	0.1627928	0.987924741475443	0.31374	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.66	0.466	0.15928	0.302000	0.18947	0.573000	0.19627	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1134:0.4508:0.2256:0.2102	2.814	0.05117	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2307.43	143	chr10	24543238	.	C	G	2307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=545;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=-1.458;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	9	0	1	0
chr10	24543815	24543815	A	C	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_019590:exon19:c.A4545C:p.Q1515H	.	426	1092	4	0	0	4	0.00182815	.	.	.	2336819	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0139899106435	0.0002	.	0.0002	0	0.0004	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs141343728	0.0001	0.0001	0.0001	0.0002	0.0062	0.0001	0.0001	0.0046	0.0041	0.0001	0.0005	0	0	0	0.0062	0.0001	0.0005	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0002	0	0	0.0004	0	0	0	0.0136	0.0003	0.0009	0.0002	0.122	0.27663	T	0.151	0.32355	T	0.755	0.46778	P	0.465	0.46596	P	0.558033	0.05408	N	1.229040	1	0.08975	N	2.045	0.56016	M	1.91	0.31205	T	0.36	0.04947	N	0.098	0.08925	-0.9853	0.33760	T	0.077	0.30920	T	10	0.04715109	0.03996	T	0.01399	0.33799	T	0.059	0.16972	0.16	0.06396	0.344017737713	0.34012	0.18654690842617375	0.18572	0.307317501305	0.33031	0.209153756499	0.00776	T	0.067832	0.33303	T	-0.555539	0.00270	T	-0.677189	0.07156	T	0.0197423976264534	0.00676	T	0.669833	0.27843	T	0.034113314	0.03764	0.040042978	0.04236	0.034113314	0.03764	0.040042978	0.04236	-4.081	0.25819	T	.	.	0.147	0.32541	B	.;.	.;.	1.351405	0.17589	13.25	0.95896564359609093	0.28117	0.20460	0.21049	N	AEFDBCI	0.209405	0.33539	N	-0.755424699966197	0.14486	0.7220121	-0.881731736427252	0.12526	0.6448887	0.775935463927443	0.23752	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.46	0.823	0.17950	0.741000	0.25870	0.705000	0.20878	-1.292000	0.01254	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.5161:0.0:0.4839:0.0	9.773	0.39771	939	0.14249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.008152	0.023392	0.000000	0.000000	0.000000	0.000000	0.05	1746.43	38	chr10	24543815	.	A	C	1746.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=535;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.65;SOR=0.754	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	9	0	1	0
chr10	24620625	24620625	C	T	exonic	ARHGAP21	.	nonsynonymous SNV	ARHGAP21:NM_001367455:exon2:c.G631A:p.D211N,ARHGAP21:NM_001367452:exon6:c.G799A:p.D267N,ARHGAP21:NM_001367447:exon8:c.G1240A:p.D414N,ARHGAP21:NM_001367451:exon8:c.G1240A:p.D414N,ARHGAP21:NM_001367453:exon8:c.G1240A:p.D414N,ARHGAP21:NM_001367448:exon9:c.G1270A:p.D424N,ARHGAP21:NM_001367454:exon9:c.G1270A:p.D424N,ARHGAP21:NM_020824:exon9:c.G1270A:p.D424N,ARHGAP21:NM_001367449:exon10:c.G976A:p.D326N,ARHGAP21:NM_001367450:exon11:c.G976A:p.D326N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0113489899953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274702141	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.166	0.30828	T	0.374	0.34192	B	0.206	0.37138	B	0.000052	0.53742	D	0.162448	0.728343	0.33691	D	.	.	.	2.85	0.46028	T	-0.79	0.21860	N	0.279	0.38335	-0.8455	0.52277	T	0.124	0.42736	T	10	0.2288717	0.39801	T	0.011349	0.28886	T	0.094	0.27141	.	.	0.189391138174	0.18552	0.3470159669360768	0.34615	0.419571383782	0.42508	0.409545570612	0.26394	T	.	.	.	-0.242925	0.14977	T	-0.586722	0.13950	T	0.489629924297333	0.32250	T	0.976902	0.92129	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.34294	B	.;.;.;.;.;.	.;.;.;.;.;.	2.915604	0.38689	20.8	0.99666461517343741	0.78266	0.43982	0.27218	N	AEFGBI	0.230366	0.35376	N	-0.267252390177368	0.30420	1.696075	-0.243360821714599	0.30001	1.685454	0.999989923629791	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.71	4.75	0.59954	4.441000	0.59724	5.887000	0.50713	0.599000	0.40250	0.950000	0.33075	1.000000	0.68203	0.276000	0.23917	0.0:0.8695:0.1305:0.0	16.523	0.84169	963	0.08280	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1330.43	113	chr10	24620625	.	C	T	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=458;ExcessHet=0;FS=1.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.18;MQRankSum=-1.37;QD=11.77;ReadPosRankSum=2.1;SOR=0.86	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,955	9	0	1	0
chr10	25599252	25599252	T	C	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon11:c.T3626C:p.I1209T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0188541422164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.036	0.52060	D	0.0	0.02946	B	0.001	0.04355	B	0.255005	0.03672	N	1.738420	1	0.08975	N	0.345	0.11182	N	0.08	0.61559	T	1.15	0.01151	N	0.025	0.00485	-0.9952	0.31245	T	0.091	0.34765	T	10	0.04474306	0.03465	T	0.018854	0.41045	T	0.055	0.15663	0.208	0.12497	0.102598925029	0.09809	0.0834286449580263	0.08276	0.121343787576	0.13666	0.273273259401	0.06572	T	0.007771	0.07155	T	-0.302793	0.08398	T	-0.672717	0.07435	T	0.10545600461471	0.12946	T	0.242376	0.03494	T	0.04824243	0.08376	0.05240851	0.08628	0.04824243	0.08376	0.05240851	0.08628	-2.857	0.08720	T	.	.	0.121	0.25034	B	.;.	.;.	0.187234	0.05738	2.183	0.62164240563977835	0.06893	0.09213	0.15014	N	AEFI	0.104130	0.20844	N	-1.27850782108478	0.03935	0.1767078	-1.26799225806625	0.04870	0.2307596	1.0764567782042E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.92	-3.77	0.04062	-0.423000	0.07102	-0.190000	0.11047	-0.278000	0.06506	0.040000	0.20979	0.000000	0.08366	0.828000	0.39026	0.1053:0.5069:0.1076:0.2802	6.102	0.19275	898	0.25240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	32.43	33	chr10	25599252	.	T	C	32.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.241;DP=324;ExcessHet=0;FS=12.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.91;SOR=3.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:45:.:.:0,45,561:.	9	0	1	0
chr10	26088368	26088368	T	C	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon15:c.T1525C:p.Y509H	Deafness, autosomal recessive 30, Autosomal recessive	2	1515	5	0	0	5	0.00164745	.	.	.	229773	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_30|not_specified	MedGen:C3661900|MONDO:MONDO:0011774,MedGen:C1846784,OMIM:607101,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.946	0.254308669371	0.0002	0.000399361	0.0002	0	8.654e-05	0	0	0.0002	0	0.0006	0.0002458	38	154602	rs150793986	0.0001	0.0001	9.258e-05	0.0002	0.0040	0.0001	0.0001	0.0027	0.0023	0.0001	0.0003	0.0004	0	0	0.0040	8.184e-05	0.0002	0.0005	0.0001	0.0001	0.0002	9.395e-05	0.0006	8.656e-05	7.25e-05	0.0002	8.992e-05	0	0	0.0003	0	0	0	0.0034	0.0001	0.0014	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.575	0.93507	H	-1.27	0.89757	T	-5.0	0.82341	D	0.944	0.96072	1.016	0.97458	D	0.881	0.96052	D	10	0.8189722	0.81115	D	0.254309	0.89246	D	0.946	0.98921	.	.	0.957487040325	0.95703	0.7366958380325841	0.73614	0.428749604982	0.43190	0.868579149246	0.92364	D	0.74238	0.94823	D	0.194641	0.73392	D	0.409404	0.92413	D	0.713415205478668	0.41368	D	0.981502	0.93758	D	0.9232796	0.93568	0.9091364	0.95627	0.9321532	0.94453	0.9057762	0.95388	-14.647	0.94970	D	0.63214911936297	0.70170	0.842	0.85185	P	.;.;.	.;.;.	4.883308	0.80103	27.2	0.99863828585974812	0.94184	0.98590	0.84440	D	AEFI	0.923366	0.89975	D	0.988633879274926	0.95384	13.56882	0.906847046376594	0.95865	14.04819	0.999747611209563	0.42466	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	8.014000	0.88267	7.906000	0.73790	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.97	0.79799	915	0.20917	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.005435	0.002941	0.050000	0.000000	0.000000	0.000000	0.05	1733.43	34	chr10	26088368	.	T	C	1733.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.436;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.522;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	9	0	1	0
chr10	26096633	26096633	A	G	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon17:c.A1727G:p.Q576R	Deafness, autosomal recessive 30, Autosomal recessive	17	1502	2	1	0	4	0.00132979	.	.	.	1367251	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.658	0.0271743659824	7.7e-05	.	2.479e-05	0	0	0	0	1.501e-05	0	0.0001	1.94e-05	3	154602	rs147703579	3.025e-05	3.215e-05	1.78e-05	4.281e-05	0.0003	2.293e-05	2.042e-05	0.0002	0.0002	0	2.236e-05	0	0	0	0	1.176e-05	1.662e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21467	T	0.387	0.24987	T	0.333	0.45171	B	0.147	0.44011	B	0.000001	0.84330	D	0.057373	1	0.81001	D	0.305	0.10234	N	-0.54	0.86815	T	-1.41	0.34795	N	0.752	0.86191	-0.0269	0.81696	T	0.539	0.82989	D	10	0.52203846	0.62698	D	0.027174	0.50018	D	0.658	0.87184	.	.	0.891885484271	0.89081	0.6180924043573426	0.61742	0.0834184838175	0.09409	0.522438168526	0.41970	T	0.224529	0.67768	T	0.14696	0.68983	D	0.233	0.84815	D	0.576419949531555	0.35481	D	0.79802	0.44234	T	0.40582967	0.61135	0.34365866	0.60074	0.40582967	0.61135	0.34365866	0.60073	-10.271	0.75519	D	0.3375079193040379	0.43539	0.103	0.26074	B	.;.;.	.;.;.	3.622375	0.51274	23.1	0.99528313709044824	0.69715	0.99792	0.99498	D	AEFI	0.932476	0.92289	D	0.325351045815627	0.57451	3.912673	0.43356167753895	0.63668	4.605231	0.99811033422935	0.36446	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	9.325000	0.96006	9.348000	0.80273	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.075	0.71738	907	0.22727	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3619.12	34	chr10	26096633	.	A	G	3619.12	.	AC=2;AF=0.1;AN=20;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.95;SOR=0.958	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	9	1	0	0
chr10	26125598	26125598	T	G	exonic	MYO3A	.	nonsynonymous SNV	MYO3A:NM_017433:exon19:c.T2104G:p.S702A	Deafness, autosomal recessive 30, Autosomal recessive	7	1511	4	0	0	4	0.00132188	.	.	YES	1988900	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0229521273118	.	.	5.783e-05	9.792e-05	0	0.0001	0	0	0	0.0003	4.53e-05	7	154602	rs758171932	3.216e-05	3.215e-05	8.169e-06	5.639e-05	0.0005	2.478e-05	2.221e-05	0.0003	0.0003	0	0	0	0	0	0.0002	1.799e-06	6.625e-05	0.0005	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0004	5.23e-06	2.45e-06	7.285e-05	3.027e-05	0	0	6.534e-05	0	0	0	0	0	0	0.0004	0.332	0.13045	T	0.678	0.06147	T	0.0	0.02946	B	0.002	0.06944	B	0.085735	0.20625	N	0.575546	1	0.08975	N	0.62	0.15745	N	-0.63	0.72011	T	-0.7	0.19933	N	0.106	0.09066	-1.0165	0.24852	T	0.144	0.46660	T	10	0.0228225	0.00580	T	0.022952	0.45881	T	0.043	0.11576	0.335	0.32329	0.534477653248	0.53097	0.11028506784974909	0.10957	0.0531325948956	0.05856	0.272852361202	0.06516	T	0.170821	0.51871	T	-0.462094	0.00954	T	-0.585386	0.14067	T	0.0219986741315982	0.00909	T	0.346965	0.07635	T	0.10343093	0.24448	0.051148616	0.08171	0.10343093	0.24448	0.051148616	0.08171	-4.559	0.31652	T	0.07186686622719829	0.02898	0.064	0.01762	B	.;.	.;.	1.162091	0.15510	11.90	0.96471606022202361	0.29939	0.05786	0.11720	N	AEFHCI	0.052476	0.09368	N	-0.956589420107716	0.09546	0.4522302	-0.923630496004498	0.11537	0.5883548	4.00698371712527E-5	0.03775	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.77	-1.18	0.09122	0.504000	0.22335	-0.082000	0.12165	0.609000	0.47794	0.010000	0.18352	0.000000	0.08366	0.995000	0.73285	0.5153:0.0:0.3597:0.125	6.419	0.20934	870	0.31527	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class III myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	584.43	35	chr10	26125598	.	T	G	584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.568;DP=403;ExcessHet=0;FS=0.914;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.28;ReadPosRankSum=-1.784;SOR=0.833	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr10	26219214	26219214	C	A	exonic	GAD2	.	nonsynonymous SNV	GAD2:NM_000818:exon4:c.C458A:p.P153Q,GAD2:NM_001134366:exon4:c.C458A:p.P153Q	.	428	1078	16	0	0	16	0.00736648	.	.	.	712309	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.447	.	0.0055	0.00279553	0.0061	0.0016	0.0014	0	0.0126	0.0085	0.0022	0.0030	0.006009	929	154602	rs2839672	0.0067	0.0068	0.0068	0.0067	0.0076	0.0066	0.0066	0.0075	0.0074	0.0009	0.0015	0.0035	2.521e-05	0.0098	0.0021	0.0076	0.0059	0.0033	0.0052	0.0052	0.0053	0.0051	0.0080	0.0049	0.0048	0.0075	0.0072	0.0011	0.0175	0.0020	0.0037	0.0002	0.0108	0.0034	0.0080	0.0033	0.0037	0.014	0.53172	D	0.019	0.59159	D	0.991	0.64070	D	0.852	0.60758	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.025	0.86340	M	1.08	0.39401	T	-4.58	0.78807	D	0.804	0.79986	-0.2836	0.75442	T	0.336	0.70240	T	10	0.009708941	0.00218	T	.	.	.	0.447	0.74866	.	.	0.592885698768	0.58965	0.8913585188844813	0.89105	1.15829965559	0.79406	0.628985524178	0.57000	T	0.812563	0.95331	D	-0.155418	0.27467	T	0.0143647	0.71265	D	0.0168037882224415	0.00435	T	0.956904	0.88371	D	0.7838858	0.82893	0.7812087	0.87103	0.7838858	0.82895	0.7812087	0.87104	-9.146	0.68632	D	.	.	0.730	0.74185	P	.;.;.	.;.;.	5.013893	0.83284	28.0	0.99249905503777203	0.56825	0.98686	0.85574	D	AEFBI	0.957131	0.97612	D	0.887826233389038	0.91152	10.74023	0.85406466692396	0.93253	11.92113	0.999999999992282	0.74766	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.530356	0.10902	0	.	.	5.61	5.61	0.85347	7.568000	0.81546	7.628000	0.62604	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.644	0.95762	666	0.61362	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002020	0.000000	0.000000	0.000000	0.000000	0.008621	0.003067	0.007576	0.1	3291.12	35	chr10	26219214	.	C	A	3291.12	.	AC=2;AF=0.1;AN=20;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.05;SOR=1.3	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	1	0	0
chr10	27012920	27012920	G	A	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon32:c.C4912T:p.R1638W,ANKRD26:NM_014915:exon32:c.C4915T:p.R1639W	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1859298	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.0118246508101	8.4e-05	.	3.314e-05	0	0	0	0	5.996e-05	0	0	3.23e-05	5	154602	rs368507197	3.079e-05	3.078e-05	3.131e-05	3.025e-05	3.598e-05	2.347e-05	2.095e-05	2.711e-05	2.387e-05	2.988e-05	0	3.827e-05	0	0	0	3.598e-05	3.312e-05	1.159e-05	3.285e-05	3.283e-05	5.139e-05	1.345e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.021	0.49613	D	0.184	0.31026	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-3.22	0.64939	D	0.191	0.20925	-0.9903	0.32525	T	0.056	0.23677	T	9	0.10569465	0.19550	T	0.011825	0.29821	T	0.057	0.16321	.	.	0.112648838833	0.10856	0.11481796909576056	0.11409	0.25259744787	0.27827	0.169977396727	0.00032	T	.	.	.	-0.242783	0.14996	T	-0.478861	0.24567	T	0.599113643169403	0.36365	D	0.755524	0.37862	T	0.06538373	0.13967	0.07652607	0.16957	0.06538373	0.13967	0.07652607	0.16957	-4.166	0.26257	T	.	.	0.119	0.24498	B	.;.	.;.	1.472312	0.18966	14.02	0.99563011805387647	0.71892	0.03937	0.09332	N	AEFBI	0.136303	0.25693	N	-0.802036684623642	0.13258	0.6518583	-0.98678611378754	0.10081	0.505536	0.00106906064742318	0.08183	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.73	-4.39	0.03360	0.573000	0.23401	-20.000000	0.00162	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.569000	0.30626	0.1949:0.2552:0.3169:0.2331	0.972	0.01328	834	0.38640	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	863.43	33	chr10	27012920	.	G	A	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.62;ReadPosRankSum=-0.052;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	9	0	1	0
chr10	27186516	27186516	G	A	exonic	MASTL	.	nonsynonymous SNV	MASTL:NM_001172304:exon11:c.G2503A:p.V835I,MASTL:NM_001172303:exon12:c.G2620A:p.V874I,MASTL:NM_032844:exon12:c.G2617A:p.V873I,MASTL:NM_001320756:exon13:c.G2632A:p.V878I,MASTL:NM_001320757:exon13:c.G2635A:p.V879I,MASTL:NM_001372030:exon13:c.G2137A:p.V713I,MASTL:NM_001372029:exon14:c.G2152A:p.V718I	.	0	1473	47	2	0	51	0.017017	.	.	.	712315	Thrombocytopenia_2|Thrombocytopenia|not_provided	MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.078	0.00997056963759	0.0037	0.00139776	0.0044	0.0013	0.0016	0.0001	0.0002	0.0055	0.0077	0.0075	0.0040491	626	154602	rs138288481	0.0048	0.0048	0.0048	0.0049	0.0072	0.0047	0.0047	0.0067	0.0065	0.0012	0.0019	0.0121	2.52e-05	0.0002	0.0061	0.0050	0.0058	0.0072	0.0036	0.0036	0.0036	0.0035	0.0077	0.0033	0.0032	0.0057	0.0050	0.0011	0.0022	0.0033	0.0136	0	0.0004	0.0102	0.0051	0.0028	0.0077	0.203	0.20154	T	0.171	0.30339	T	0.011	0.20130	B	0.016	0.20792	B	0.000006	0.62929	N	0.106801	0.996275	0.45878	D	1.53	0.38800	L	-0.28	0.67543	T	-0.34	0.13805	N	0.061	0.08366	-0.9986	0.30311	T	0.126	0.43112	T	10	0.0049705505	0.00107	T	0.009971	0.25946	T	0.078	0.22779	.	.	0.371531589858	0.36766	0.1272268554561651	0.12648	0.0910169347132	0.10278	0.316755950451	0.12930	T	0.006687	0.06116	T	-0.498078	0.00586	T	-0.483104	0.24118	T	0.00412092111472847	0.00044	T	0.812919	0.48860	T	0.019913116	0.00533	0.0360601	0.02977	0.019913116	0.00532	0.0360601	0.02977	-5.82	0.52231	T	.	.	0.073	0.07697	B	.;.;.;.	.;.;.;.	1.094405	0.14780	11.32	0.95402752632936616	0.26857	0.91252	0.53159	D	AEFBI	0.103222	0.20687	N	-0.449366988897339	0.23761	1.278292	-0.341345716934986	0.26776	1.481296	0.146633193900005	0.17370	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.63	2.79	0.31792	2.239000	0.42728	0.193000	0.15765	0.656000	0.54149	0.995000	0.38783	0.001000	0.17328	0.935000	0.47363	0.2174:0.0:0.7826:0.0	10.103	0.41688	804	0.43891	.;AGC-kinase, C-terminal;.;AGC-kinase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.000000	0.009511	0.005848	0.000000	0.008621	0.006098	0.011364	0.05	1367.43	36	chr10	27186516	.	G	A	1367.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=578;ExcessHet=0;FS=3.446;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.803;SOR=0.427	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1379,0,1272	9	0	1	0
chr10	27398808	27398808	G	T	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.C1790A:p.T597K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.0829792617912	.	.	2.475e-05	0	0	0	0	4.501e-05	0	0	2.59e-05	4	154602	rs770276918	2.327e-05	2.326e-05	2.588e-05	2.063e-05	3.059e-05	1.675e-05	1.478e-05	2.202e-05	1.943e-05	0	0	0	0	0	0	3.059e-05	0	0	3.946e-05	3.941e-05	6.428e-05	1.346e-05	0.0001	1.717e-05	1.13e-05	2.268e-05	1.125e-05	0	0	0.0001	0	0	0	0	5.882e-05	0	0	0.003	0.68238	D	0.009	0.66756	D	0.87	0.47827	P	0.739	0.55653	P	0.005669	0.32605	N	0.346426	0.996381	0.23031	N	2.62	0.76659	M	-2.0	0.85393	D	-4.43	0.77554	D	0.465	0.50146	-0.0845	0.80453	T	0.657	0.88092	D	10	0.74187064	0.75014	D	0.082979	0.74018	D	0.527	0.80007	.	.	0.382592752248	0.37866	.	.	0.461688473962	0.45703	0.40982785821	0.26433	T	0.248671	0.61850	T	0.0308233	0.55833	T	-0.129855	0.60985	T	0.974708199501038	0.70620	D	.	.	.	0.70716006	0.78451	0.6432241	0.79148	0.70716006	0.78452	0.6432241	0.79149	-10.042	0.74163	D	.	.	0.319	0.54456	B	.	.	2.418229	0.31091	18.64	0.9781479782228486	0.36155	0.85646	0.44801	D	AEFI	0.174052	0.30116	N	0.175860928590338	0.50042	3.198109	0.03934709997902	0.41560	2.498882	0.00140959161360732	0.08512	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.19	3.28	0.36691	3.215000	0.50871	0.129000	0.15021	0.526000	0.24426	1.000000	0.71638	0.001000	0.17328	0.385000	0.26447	0.1838:0.0:0.8162:0.0	9.142	0.36072	449	0.79428	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1893.43	101	chr10	27398808	.	G	T	1893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.97;DP=871;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.977;SOR=0.604	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	9	0	1	0
chr10	27940706	27940706	G	T	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon6:c.C418A:p.L140M,ARMC4:NM_001312689:exon8:c.C919A:p.L307M,ARMC4:NM_001290020:exon13:c.C1843A:p.L615M,ARMC4:NM_018076:exon13:c.C1843A:p.L615M	Ciliary dyskinesia, primary, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.0759874371258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	3.03	0.86425	M	-0.31	0.68030	T	-1.84	0.43149	N	0.792	0.78832	-0.0783	0.80591	T	0.497	0.80946	T	10	0.8093863	0.80240	D	0.075987	0.72423	D	0.495	0.78036	0.489	0.57415	0.724081930085	0.72164	0.43833571760433687	0.43750	0.553721136388	0.52132	0.740363359451	0.73027	T	0.148664	0.48732	T	0.130514	0.67412	D	-0.050302	0.67003	D	0.95476233959198	0.64343	D	0.956104	0.83363	D	0.3338862	0.55787	0.2978197	0.55816	0.3338862	0.55787	0.2978197	0.55815	-13.214	0.90224	D	.	.	0.705	0.73169	P	.	.	3.377948	0.46710	22.3	0.99548020717274066	0.70961	0.95128	0.63540	D	AEFI	0.478296	0.52092	N	0.383007210855026	0.60500	4.23969	0.207082824283973	0.50240	3.218135	2.50245455875285E-4	0.06141	0.638212	0.43195	0	0.573888	0.26702	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.83	2.97	0.33479	2.734000	0.47041	3.282000	0.37238	0.671000	0.69459	0.998000	0.41325	1.000000	0.68203	0.310000	0.24737	0.2379:0.0:0.7621:0.0	8.524	0.32456	755	0.51144	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1715.43	34	chr10	27940706	.	G	T	1715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.171;DP=505;ExcessHet=0;FS=2.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.428;SOR=0.503	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1500	9	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I,SVIL:NM_001323600:exon21:c.G2997A:p.M999I,SVIL:NM_021738:exon22:c.G4179A:p.M1393I,SVIL:NM_001323599:exon23:c.G3249A:p.M1083I	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029412	0.060811	0.016484	0.039474	0.000000	0.052632	0.025926	0.025000	0.15	362.45	112	chr10	29490860	.	C	T	362.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.26;DP=720;ExcessHet=0.7463;FS=70.302;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.16;MQRankSum=-9.961;QD=1.1;ReadPosRankSum=-4.361;SOR=4.882	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1170	7	0	3	0
chr10	29524522	29524522	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon12:c.A1258G:p.M420V,SVIL:NM_001323600:exon13:c.A1354G:p.M452V,SVIL:NM_021738:exon14:c.A2536G:p.M846V,SVIL:NM_001323599:exon15:c.A1606G:p.M536V	.	430	1087	4	1	0	6	0.00275229	.	.	.	3482027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0161891281737	.	0.000199681	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs558528820	5.472e-05	5.472e-05	3.675e-05	7.288e-05	0.0007	4.477e-05	4.147e-05	0.0006	0.0005	0	0	0	0	0	0	1.439e-05	1.656e-05	0.0007	3.282e-05	3.281e-05	2.57e-05	4.027e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.178	0.45039	T	0.241	0.24334	T	0.452	0.36118	B	0.228	0.38116	B	0.002089	0.37271	N	0.368951	0.670736	0.35442	D	2.535	0.73915	M	1.01	0.41058	T	-1.44	0.35399	N	0.137	0.20129	-0.9775	0.35571	T	0.124	0.42862	T	9	0.033263087	0.01497	T	0.016189	0.37323	T	0.082	0.23913	0.194	0.10571	0.395439683604	0.39153	0.2015748252049481	0.20074	0.24203767253	0.26720	0.352267980576	0.18255	T	0.050125	0.28506	T	-0.375607	0.03319	T	-0.377065	0.36066	T	0.158927515149117	0.17792	T	0.79512	0.59406	T	0.27394497	0.50461	0.1667892	0.38514	0.22764221	0.45468	0.18479586	0.41552	-7.555	0.57996	D	0.12657493725915436	0.12806	0.129	0.27493	B	.;.;.	.;.;.	2.683793	0.35018	19.79	0.98165743215205348	0.38814	0.67078	0.33303	D	AEFGBI	0.203697	0.33018	N	-0.0940136232520726	0.37654	2.193861	-0.00568079057331083	0.39457	2.339862	0.998742813795459	0.37581	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	1.383000	0.33992	2.890000	0.35384	0.665000	0.62972	0.681000	0.28448	1.000000	0.68203	0.926000	0.46234	0.1307:0.0:0.0:0.8693	11.870	0.51795	968	0.07033	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1539.43	39	chr10	29524522	.	T	C	1539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=465;ExcessHet=0;FS=0.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.11;SOR=0.805	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr10	29533429	29533429	T	C	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_021738:exon8:c.A938G:p.E313G	.	425	1032	62	3	0	68	0.0318949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0021	0.00379393	0.0052	0.0006	0.0009	0.0002	0.0006	0.0030	0.0033	0.0248	0.0045795	708	154602	rs138539716	0.0035	0.0035	0.0027	0.0042	0.0249	0.0034	0.0034	0.0240	0.0237	0.0004	0.0008	0.0020	7.561e-05	0.0008	0.0168	0.0022	0.0037	0.0249	0.0023	0.0023	0.0020	0.0026	0.0261	0.0021	0.0020	0.0224	0.0210	0.0002	0	0.0018	0.0014	0	0.0002	0.0102	0.0026	0.0019	0.0261	0.0	0.91255	D	0.019	0.59159	D	0.999	0.77913	D	0.922	0.65739	D	0.000035	0.55875	D	0.120676	0.999815	0.81001	D	2.965	0.85198	M	0.83	0.47815	T	-2.76	0.58569	D	0.672	0.67995	-0.5825	0.65518	T	0.277	0.64845	T	9	0.006445855	0.00146	T	.	.	.	0.161	0.41658	.	.	0.29966067498	0.29572	0.32499134559339155	0.32412	0.941272911634	0.72213	0.544726490974	0.45114	T	0.114264	0.43194	T	-0.326568	0.06375	T	-0.222944	0.52452	T	0.0506692524194072	0.05618	T	0.909109	0.67839	D	0.4057002	0.61126	0.45622653	0.68392	0.38305208	0.59537	0.45176348	0.68105	-4.169	0.26519	T	.	.	0.523	0.65599	A	.;.	.;.	4.217554	0.63767	24.6	0.99928286144631806	0.99222	0.98525	0.83712	D	AEFBI	0.791987	0.72041	D	0.720763892831633	0.80992	7.419273	0.719964135676973	0.83897	8.143189	0.999999999870866	0.74766	0.740787	0.97801	0	0.573888	0.26702	0	0.767554	0.98243	0	0.635551	0.53088	0	.	.	5.85	5.85	0.93663	7.074000	0.76478	6.216000	0.55070	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.230	0.82154	968	0.07033	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.009511	0.005848	0.000000	0.000000	0.012195	0.022727	0.05	664.43	45	chr10	29533429	.	T	C	664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=1.01;SOR=0.792	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr10	31363188	31363188	T	C	exonic	LOC100505502	.	nonsynonymous SNV	LOC100505502:NM_001368169:exon2:c.A637G:p.S213G	.	489	1028	5	0	0	5	0.00242601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0033	0	0	0	0.0027	0.0008	0	0.0053	0.0003428	53	154602	rs765561325	0.0012	0.0012	0.0011	0.0013	0.0039	0.0012	0.0012	0.0035	0.0034	0.0002	0.0004	0	0	0.0019	0.0002	0.0012	0.0009	0.0039	0.0008	0.0008	0.0005	0.0011	0.0021	0.0007	0.0007	0.0011	0.0009	9.622e-05	0	0.0003	0	0.0004	0.0027	0	0.0011	0.0009	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	591.43	33	chr10	31363188	.	T	C	591.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=384;ExcessHet=0;FS=7.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.96;MQRankSum=-3.248;QD=10.95;ReadPosRankSum=-0.767;SOR=1.567	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1186	9	0	1	0
chr10	31521854	31521854	A	C	exonic	ZEB1	.	nonsynonymous SNV	ZEB1:NM_001323674:exon5:c.A2297C:p.Q766P,ZEB1:NM_001323675:exon5:c.A2255C:p.Q752P,ZEB1:NM_001323678:exon5:c.A2246C:p.Q749P,ZEB1:NM_001174093:exon6:c.A2459C:p.Q820P,ZEB1:NM_001174095:exon6:c.A2318C:p.Q773P,ZEB1:NM_001323644:exon6:c.A1865C:p.Q622P,ZEB1:NM_001128128:exon7:c.A2471C:p.Q824P,ZEB1:NM_001174094:exon7:c.A2468C:p.Q823P,ZEB1:NM_001174096:exon7:c.A2522C:p.Q841P,ZEB1:NM_001323641:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323648:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323656:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323657:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323658:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323659:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323660:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323666:exon7:c.A1865C:p.Q622P,ZEB1:NM_001323676:exon7:c.A2480C:p.Q827P,ZEB1:NM_001323677:exon7:c.A2477C:p.Q826P,ZEB1:NM_030751:exon7:c.A2519C:p.Q840P,ZEB1:NM_001323645:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323647:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323649:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323651:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323661:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323665:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323671:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323673:exon8:c.A1865C:p.Q622P,ZEB1:NM_001323642:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323643:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323652:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323653:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323654:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323655:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323662:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323664:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323672:exon9:c.A1865C:p.Q622P,ZEB1:NM_001323646:exon10:c.A1865C:p.Q622P,ZEB1:NM_001323650:exon10:c.A1865C:p.Q622P,ZEB1:NM_001323663:exon10:c.A1865C:p.Q622P,ZEB1:NM_001323638:exon11:c.A1865C:p.Q622P	Corneal dystrophy, Fuchs endothelial, 6;Corneal dystrophy, posterior polymorphous, 3	1	1514	7	0	0	7	0.00230643	.	.	.	27673	Corneal_dystrophy,_Fuchs_endothelial,_6|not_provided|not_specified	MONDO:MONDO:0013206,MedGen:C2750448,OMIM:613270,Orphanet:98974|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.326	.	0.0042	0.00299521	0.0073	0.0010	0.0027	0	0.0357	0.0080	0.0133	0.0036	0.0067528	1044	154602	rs118020901	0.0072	0.0072	0.0073	0.0071	0.0072	0.0071	0.0070	0.0070	0.0070	0.0009	0.0026	0.0002	0	0.0324	0.0003	0.0072	0.0054	0.0039	0.0065	0.0065	0.0052	0.0079	0.0074	0.0062	0.0060	0.0069	0.0067	0.0010	0.0033	0.0029	0	0.0004	0.0351	0	0.0074	0.0052	0.0021	0.037	0.43393	D	0.149	0.33219	T	0.996	0.68779	D	0.979	0.74454	D	0.000051	0.53742	D	0.000000	1	0.81001	A	1.4	0.35362	L	2.55	0.13916	T	-1.35	0.33598	N	0.87	0.88137	-1.1381	0.01431	T	0.045	0.19397	T	10	0.008486122	0.00192	T	.	.	.	0.326	0.64826	.	.	0.585156580728	0.58189	0.5262441764705186	0.52548	0.492389837339	0.47886	0.62894320488	0.56994	T	0.219356	0.58233	T	-0.153488	0.27767	T	0.0130049	0.71176	D	0.0117752482725393	0.00182	T	0.927407	0.75038	D	0.2841804	0.51447	0.39151987	0.63920	0.2841804	0.51446	0.3682634	0.62119	-6.197	0.47963	T	0.6644075545165191	0.73840	0.232	0.55152	B	.;.;.;.;.	.;.;.;.;.	4.373441	0.67350	25.1	0.99586012029110649	0.73277	0.96131	0.67674	D	AEFGBCI	0.905103	0.85622	D	0.568385057455099	0.71208	5.61612	0.624828674845685	0.76748	6.548462	0.999999999789682	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.68	5.68	0.88021	7.006000	0.76078	11.304000	0.92346	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.232	0.82175	796	0.45353	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.100000	0.000000	0.000000	0.000000	0.05	2217.43	34	chr10	31521854	.	A	C	2217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.57;DP=503;ExcessHet=0;FS=1.159;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-1.113;SOR=0.591	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	9	0	1	0
chr10	31820479	31820479	T	A	exonic	ARHGAP12	.	nonsynonymous SNV	ARHGAP12:NM_001270699:exon8:c.A1384T:p.N462Y,ARHGAP12:NM_001270698:exon9:c.A1309T:p.N437Y,ARHGAP12:NM_001270696:exon10:c.A1450T:p.N484Y,ARHGAP12:NM_001270695:exon11:c.A1525T:p.N509Y,ARHGAP12:NM_001270697:exon11:c.A1399T:p.N467Y,ARHGAP12:NM_018287:exon12:c.A1540T:p.N514Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.0497099169737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs374993453	6.956e-07	1.368e-06	1.383e-06	0	3.093e-05	0	0	.	.	3.093e-05	0	0	0	0	0	0	0	0	1.973e-05	1.97e-05	1.286e-05	2.692e-05	4.827e-05	5.25e-06	2.46e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.72154	D	0.004	0.74150	D	0.994	0.70673	D	0.942	0.71341	D	0.000000	0.84330	D	0.041576	0.999996	0.58761	D	1.87	0.49600	L	-0.95	0.75438	T	-4.62	0.81431	D	0.495	0.75374	-0.6113	0.64349	T	0.297	0.66877	T	10	0.36548513	0.53066	T	0.04971	0.63932	D	0.552	0.81485	0.359	0.36222	0.778032549235	0.77598	0.38234006120894315	0.38149	0.538818631565	0.51129	0.693682909012	0.66235	T	0.596105	0.86987	D	0.314665	0.84090	D	0.214218	0.83883	D	0.992499530315399	0.82987	D	0.928807	0.74113	D	0.59928584	0.72653	0.6152146	0.77603	0.59928584	0.72654	0.6152146	0.77604	-11.522	0.85925	D	.	.	0.229	0.46813	B	.;.;.;.;.	.;.;.;.;.	4.790931	0.77749	26.8	0.99296630902055139	0.58469	0.96484	0.69368	D	AEFBI	0.735344	0.68119	D	0.363406869849229	0.59450	4.124612	0.455120848957551	0.65044	4.774471	0.999999998755493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.74	5.74	0.90070	5.667000	0.67736	7.894000	0.73204	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.026	0.80343	526	0.73951	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;.;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1001.43	33	chr10	31820479	.	T	A	1001.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.27;ReadPosRankSum=0.597;SOR=0.754	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr10	32271912	32271912	A	G	exonic	EPC1	.	nonsynonymous SNV	EPC1:NM_001272004:exon13:c.T2011C:p.Y671H,EPC1:NM_001272019:exon13:c.T1798C:p.Y600H,EPC1:NM_001282391:exon13:c.T1861C:p.Y621H,EPC1:NM_001382753:exon13:c.T2008C:p.Y670H,EPC1:NM_001382755:exon13:c.T1810C:p.Y604H,EPC1:NM_001382754:exon14:c.T1930C:p.Y644H,EPC1:NM_025209:exon14:c.T2080C:p.Y694H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0164418631709	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223670651	5.477e-06	5.472e-06	0	1.101e-05	0.0002	2.36e-06	1.7e-06	3.767e-05	2.663e-05	0	0	0	0	0	0.0002	0	0	8.119e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.32929	T	0.32	0.20745	T	0.969	0.77913	D	0.655	0.88582	P	0.000233	0.47286	D	0.226121	0.999997	0.58761	D	1.895	0.50365	L	.	.	.	-0.67	0.19297	N	0.49	0.56058	-0.6363	0.63303	T	0.303	0.67362	T	9	0.54528385	0.63948	D	0.016442	0.37697	T	0.290	0.60924	0.834	0.94231	0.400930682813	0.39710	0.6251952422838621	0.62452	0.88529838353	0.69962	0.832993626595	0.87022	D	0.176426	0.52636	T	0.166191	0.70774	D	0.101576	0.77012	D	0.689945241526325	0.40245	D	0.967203	0.93912	D	0.08625338	0.20042	0.09485253	0.22470	0.08625338	0.20042	0.09485253	0.22469	-2.546	0.06734	T	.	.	0.412	0.60259	A	.;.;.	.;.;.	4.567779	0.72040	25.8	0.99762819315161644	0.85172	0.99557	0.97415	D	AEFDGBI	0.883928	0.81321	D	0.564097400482829	0.70946	5.576626	0.597696696081067	0.74773	6.19465	0.999999999999988	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.741806	0.99463	0	.	.	5.37	5.37	0.76949	8.944000	0.92539	11.314000	0.92500	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.431	0.74824	535	0.73288	.;.;Enhancer of polycomb, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1053.43	34	chr10	32271912	.	A	G	1053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-1.239;SOR=0.77	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1065,0,821	9	0	1	0
chr10	34317230	34317230	T	C	exonic	PARD3	.	nonsynonymous SNV	PARD3:NM_001184791:exon17:c.A2726G:p.K909R,PARD3:NM_001184790:exon18:c.A2681G:p.K894R,PARD3:NM_001184786:exon19:c.A2903G:p.K968R,PARD3:NM_001184788:exon19:c.A2813G:p.K938R,PARD3:NM_001184789:exon19:c.A2813G:p.K938R,PARD3:NM_001184794:exon19:c.A2813G:p.K938R,PARD3:NM_001184785:exon20:c.A2942G:p.K981R,PARD3:NM_001184787:exon20:c.A2951G:p.K984R,PARD3:NM_001184792:exon20:c.A2942G:p.K981R,PARD3:NM_001184793:exon20:c.A2849G:p.K950R,PARD3:NM_019619:exon20:c.A2951G:p.K984R	.	429	1084	9	0	0	9	0.00413413	.	.	.	3206031	PARD3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00537531025545	.	0.000599042	0.0008	0	0	0	0	0.0002	0	0.0047	0.0006274	97	154602	rs200130312	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0047	2.987e-05	0.0001	3.826e-05	0	0	0.0024	0.0002	0.0005	0.0052	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0006	0	0	0	0	0.0002	0	0.0044	0.439	0.15613	T	0.229	0.41405	T	0.001	0.14184	B	0.004	0.15521	B	0.014598	0.28488	N	0.404642	0.557243	0.32183	D	0.315	0.10303	N	1.45	0.32482	T	-1.24	0.33197	N	0.146	0.14763	-1.0451	0.15796	T	0.055	0.23375	T	10	0.0043361783	0.00088	T	0.005375	0.13771	T	0.031	0.07369	0.325	0.30711	0.306606720791	0.30265	0.0394300521374119	0.03889	0.0698374760876	0.07817	0.320736885071	0.13533	T	0.215996	0.57804	T	-0.622963	0.00105	T	-0.666666	0.07823	T	0.0116788487424321	0.00179	T	0.857714	0.56927	D	0.047509383	0.08131	0.049264885	0.07493	0.040747296	0.05873	0.04566475	0.06193	-3.607	0.29435	T	.	.	0.078	0.07036	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.168555	0.27635	17.53	0.98762351355122246	0.45831	0.90862	0.52401	D	AEFBI	0.402359	0.47648	N	-0.391060253620372	0.25787	1.402419	-0.280967106806349	0.28725	1.603851	0.883927345974525	0.25684	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	0.801	0.17822	2.202000	0.42377	0.863000	0.22246	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.3325:0.0:0.6675	8.232	0.30765	946	0.12043	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003627	0.000000	0.000000	0.000000	0.000000	0.017241	0.012195	0.007576	0.1	1529.14	33	chr10	34317230	.	T	C	1529.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.668;DP=391;ExcessHet=0.2348;FS=4.433;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.586;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	8	0	2	0
chr10	35608199	35608199	G	A	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.G686A:p.G229E	.	406	1099	16	1	0	18	0.00812274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0496399882724	.	0.00139776	0.0012	0	0	0	0	0.0002	0.0053	0.0054	0.0005498	85	154602	rs538629092	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0.0002	0.0003	0	0	0	0.0031	2.804e-05	0.0006	0.0046	0.0004	0.0004	0.0003	0.0006	0.0062	0.0004	0.0003	0.0045	0.0039	7.228e-05	0	0.0020	0	0.0002	0	0	2.942e-05	0.0005	0.0062	0.646	0.04912	T	0.779	0.04344	T	0.675	0.41275	P	0.163	0.34892	B	0.090348	0.02448	N	1.834020	1	0.08975	N	1.59	0.40313	L	-4.47	0.97583	D	-0.98	0.25986	N	0.121	0.11197	0.161	0.85240	D	0.724	0.90543	D	10	0.004319817	0.00087	T	0.04964	0.63902	D	0.298	0.61843	0.294	0.25720	0.561027722634	0.55763	0.3377256414981641	0.33685	0.357799759759	0.37491	0.339733570814	0.16399	T	0.061685	0.31720	T	-0.301089	0.08558	T	-0.203903	0.54275	T	0.00968756193926473	0.00126	T	0.336266	0.07184	T	0.035647098	0.04236	0.052975927	0.08833	0.035647098	0.04236	0.052975927	0.08832	-3.909	0.22438	T	.	.	0.114	0.22573	B	.	.	1.160027	0.15487	11.89	0.90125036704138561	0.19405	0.02276	0.06567	N	AEFDBI	0.044468	0.07156	N	-0.858748689427508	0.11835	0.573381	-0.926619864055949	0.11466	0.5843499	0.999950510641473	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.76	1.12	0.19700	1.581000	0.36167	0.505000	0.19029	0.575000	0.29119	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.1727:0.4157:0.4116	6.478	0.21248	733	0.53988	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006639	0.000000	0.008197	0.014793	0.000000	0.000000	0.000000	0.011364	0.05	894.43	33	chr10	35608199	.	G	A	894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.228;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.092;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1333	9	0	1	0
chr10	37219028	37219028	A	G	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.A3148G:p.M1050V	.	501	1019	1	1	0	3	0.00146987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00153891314195	0.0018	0.000599042	0.0023	0.0005	0.0010	0	0.0006	0.0034	0	0.0020	0.0023868	369	154602	rs193176695	0.0036	0.0035	0.0036	0.0035	0.0042	0.0035	0.0034	0.0041	0.0040	0.0005	0.0013	0.0010	0	0.0013	0.0028	0.0042	0.0031	0.0019	0.0020	0.0020	0.0023	0.0017	0.0038	0.0018	0.0017	0.0034	0.0032	0.0003	0	0.0009	0.0009	0	0.0005	0.0068	0.0038	0.0019	0.0015	0.01	0.56456	D	0.482	0.11864	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.54	0.38927	L	2.45	0.15028	T	-2.1	0.49519	N	0.037	0.05929	-0.9990	0.30199	T	0.033	0.14073	T	9	0.005734384	0.00128	T	0.001539	0.02420	T	0.044	0.11924	.	.	0.321108458156	0.31720	0.007644824529892	0.00730	0.0101459814769	0.00935	0.702099621296	0.67447	T	0.027486	0.28876	T	-0.71165	0.00031	T	-0.793921	0.02059	T	0.0201471176715606	0.00715	T	0.464354	0.13557	T	0.054219108	0.10372	0.101039	0.24175	0.054219108	0.10372	0.101039	0.24175	-4.432	0.29988	T	.	.	0.167	0.36850	B	.;.;.;.	.;.;.;.	-0.218899	0.02995	0.451	0.31078684548890767	0.01733	0.02115	0.06256	N	AEFI	0.069273	0.13704	N	-1.39162260527824	0.02716	0.1203251	-1.46618924489745	0.02626	0.1211416	0.999851411373969	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.81	0.215	0.14529	1.358000	0.33706	1.183000	0.24710	-0.518000	0.04984	0.002000	0.15269	0.000000	0.08366	0.028000	0.12845	0.6623:0.21:0.1277:0.0	4.047	0.09261	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000557	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	510.43	33	chr10	37219028	.	A	G	510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=371;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=0.008;SOR=0.874	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1279	9	0	1	0
chr10	38010775	38010775	G	A	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon1:c.G22A:p.G8R,ZNF33A:NM_001324178:exon1:c.G22A:p.G8R	.	10	1506	6	0	0	6	0.00198807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000868006559858	.	0.00119808	0.0013	0.0001	0.0002	0	0	0	0	0.0086	0.0009702	150	154602	rs577416013	0.0006	0.0006	0.0003	0.0008	0.0090	0.0005	0.0005	0.0085	0.0083	0	0	0	0	0	0.0005	5.397e-06	0.0004	0.0090	0.0002	0.0002	6.422e-05	0.0004	0.0072	0.0002	0.0001	0.0054	0.0047	0	0	0	0	0	0	0	0	0	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	0.178	0.19190	-0.9513	0.40747	T	0.012	0.04653	T	8	0.0041517615	0.00082	T	8.68E-4	0.00777	T	.	.	0.279	0.23323	0.26547132957	0.26150	.	.	.	.	.	.	.	.	.	.	-0.635266	0.00089	T	-0.678611	0.07068	T	0.012761279293996	0.00216	T	0.273273	0.04638	T	.	.	.	.	.	.	.	.	-2.781	0.08009	T	.	.	0.270	0.50426	B	.	.	0.579339	0.09480	6.256	0.74535391578035903	0.10732	0.02324	0.06658	N	ALL	0.058656	0.11020	N	-1.02524051907295	0.08082	0.3777259	-1.15710591108389	0.06641	0.3203548	0.999999995922159	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	1.31	0.326	0.15150	0.249000	0.17989	0.033000	0.13759	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3696:0.6304:0.0	5.257	0.14870	693	0.58582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	729.43	34	chr10	38010775	.	G	A	729.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=0.266;SOR=0.629	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr10	38054930	38054930	C	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.C824T:p.P275L,ZNF33A:NM_001324178:exon4:c.C827T:p.P276L,ZNF33A:NM_001278177:exon5:c.C869T:p.P290L,ZNF33A:NM_001278178:exon5:c.C470T:p.P157L,ZNF33A:NM_001324176:exon5:c.C470T:p.P157L,ZNF33A:NM_006954:exon5:c.C806T:p.P269L,ZNF33A:NM_006974:exon5:c.C803T:p.P268L,ZNF33A:NM_001278171:exon6:c.C470T:p.P157L,ZNF33A:NM_001278173:exon6:c.C860T:p.P287L,ZNF33A:NM_001278174:exon6:c.C470T:p.P157L,ZNF33A:NM_001278175:exon6:c.C572T:p.P191L,ZNF33A:NM_001278176:exon6:c.C677T:p.P226L,ZNF33A:NM_001278179:exon6:c.C470T:p.P157L,ZNF33A:NM_001324175:exon6:c.C470T:p.P157L,ZNF33A:NM_001324177:exon6:c.C470T:p.P157L	.	9	1473	39	1	0	41	0.0137261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0035	0.0217652	0.0133	0.0012	0.0035	0.0566	0.0002	0.0045	0.0188	0.0456	0.0122055	1887	154602	rs78340846	0.0086	0.0086	0.0074	0.0097	0.0524	0.0084	0.0084	0.0506	0.0498	0.0008	0.0023	0.0076	0.0524	0.0002	0.0092	0.0048	0.0097	0.0475	0.0065	0.0065	0.0056	0.0074	0.0542	0.0062	0.0060	0.0488	0.0467	0.0013	0.0033	0.0029	0.0055	0.0497	0	0.0034	0.0049	0.0076	0.0542	0.078	0.33923	T	0.081	0.83351	T	0.0	0.02946	B	0.001	0.04355	B	0.225023	0.16049	N	0.462111	1	0.08975	N	0.41	0.12415	N	3.44	0.05375	T	-1.52	0.36980	N	0.262	0.32148	-0.9496	0.41040	T	0.002	0.00526	T	10	0.0029008985	0.00046	T	.	.	.	0.048	0.13305	.	.	.	.	0.19901764050235302	0.19818	0.0329765575475	0.03447	0.223304584622	0.01509	T	0.025939	0.19295	T	-0.691823	0.00041	T	-0.725553	0.04532	T	0.0127520359431619	0.00216	T	0.0432957	0.00347	T	0.037352197	0.04771	0.033255894	0.02190	0.037352197	0.04770	0.033255894	0.02189	-3.84	0.21869	T	.	.	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	0.555017	0.09238	6.018	0.66295141590691198	0.08017	0.09166	0.14976	N	AEFGBI	0.049285	0.08497	N	-1.22149415496001	0.04689	0.2121699	-1.29038804668229	0.04559	0.2153426	0.409632238020963	0.20201	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	-0.393	0.11819	0.505000	0.22352	-2.134000	0.04162	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2601:0.3828:0.0:0.3571	1.999	0.03252	675	0.60470	.;.;.;.;.	.	.	.	.	rs78340846	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009577	0.000000	0.004076	0.011696	0.000000	0.017241	0.012195	0.030303	0.05	1278.43	34	chr10	38054930	.	C	T	1278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=576;ExcessHet=0;FS=3.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.528;SOR=1.02	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	9	0	1	0
chr10	38054985	38054985	G	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.G879T:p.K293N,ZNF33A:NM_001324178:exon4:c.G882T:p.K294N,ZNF33A:NM_001278177:exon5:c.G924T:p.K308N,ZNF33A:NM_001278178:exon5:c.G525T:p.K175N,ZNF33A:NM_001324176:exon5:c.G525T:p.K175N,ZNF33A:NM_006954:exon5:c.G861T:p.K287N,ZNF33A:NM_006974:exon5:c.G858T:p.K286N,ZNF33A:NM_001278171:exon6:c.G525T:p.K175N,ZNF33A:NM_001278173:exon6:c.G915T:p.K305N,ZNF33A:NM_001278174:exon6:c.G525T:p.K175N,ZNF33A:NM_001278175:exon6:c.G627T:p.K209N,ZNF33A:NM_001278176:exon6:c.G732T:p.K244N,ZNF33A:NM_001278179:exon6:c.G525T:p.K175N,ZNF33A:NM_001324175:exon6:c.G525T:p.K175N,ZNF33A:NM_001324177:exon6:c.G525T:p.K175N	.	9	1507	6	0	0	6	0.00198675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	.	0.00159744	0.0015	9.79e-05	0.0002	0	0	0	0	0.0107	0.0012354	191	154602	rs558286901	0.0007	0.0007	0.0003	0.0010	0.0106	0.0006	0.0006	0.0100	0.0098	0	0	0	0	0	0.0007	4.497e-06	0.0006	0.0106	0.0003	0.0003	8.994e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	0	0	0	0	0	0	0	0.0089	0.226	0.32141	T	0.074	0.42976	T	0.877	0.48223	P	0.417	0.44992	B	0.035431	0.24645	N	0.200812	1	0.08975	N	1.385	0.34509	L	1.24	0.36691	T	-2.09	0.56787	N	0.033	0.01740	-0.9844	0.33975	T	0.015	0.05994	T	10	0.0061893165	0.00139	T	.	.	.	0.073	0.21317	0.41	0.44559	0.395595088485	0.39173	0.07833830600797459	0.07769	0.0373431891755	0.03961	0.239627748728	0.02757	T	0.034139	0.23202	T	-0.679047	0.00049	T	-0.738785	0.03942	T	0.0686560278964904	0.08461	T	0.0112989	0.00079	T	0.122145414	0.28709	0.09066567	0.21273	0.122145414	0.28708	0.09066567	0.21273	-4.274	0.27811	T	.	.	0.170	0.37426	B	.;.;.;.;.	.;.;.;.;.	0.998316	0.13765	10.31	0.95523997339935862	0.27146	0.02021	0.06069	N	AEFGBI	0.041186	0.06227	N	-1.01758972000038	0.08239	0.3855891	-1.25697765733014	0.05028	0.2386334	0.841437935648922	0.24874	0.566229	0.32551	0	0.615513	0.52658	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.05	-3.37	0.04591	-1.450000	0.02496	-2.356000	0.03857	-0.397000	0.05315	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2686:0.0:0.2678:0.4636	2.202	0.03686	675	0.60470	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2364.43	34	chr10	38054985	.	G	T	2364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.451;DP=733;ExcessHet=0;FS=1.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.361;SOR=0.609	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	9	0	1	0
chr10	42820245	42820245	G	A	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon16:c.G2590A:p.A864T	.	434	1062	24	2	0	28	0.0130112	.	.	.	3221913	BMS1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.080	.	.	0.0413339	0.0214	0.0005	0.0012	0.1068	0.0366	0.0036	0.0234	0.0699	0.0188031	2907	154602	rs117641896	0.0099	0.0099	0.0083	0.0115	0.1394	0.0097	0.0097	0.1363	0.1350	0.0002	0.0008	0.0041	0.1394	0.0317	0.0056	0.0008	0.0111	0.0644	0.0098	0.0099	0.0066	0.0132	0.1098	0.0094	0.0092	0.1023	0.0993	0.0003	0	0.0005	0.0032	0.1098	0.0323	0.0068	0.0021	0.0104	0.0806	0.153	0.24372	T	0.2	0.27591	T	0.452	0.36118	B	0.055	0.25995	B	0.000043	0.53742	D	0.122857	0.765727	0.29491	N	.	.	.	2.3	0.16953	T	-0.78	0.21644	N	0.234	0.26354	-1.1110	0.02985	T	0.000	0.00114	T	10	0.0021870434	0.00032	T	.	.	.	0.080	0.23350	.	.	.	.	0.3486463334772223	0.34778	0.245553725906	0.27076	0.558945655823	0.47119	T	0.006068	0.05507	T	-0.643963	0.00079	T	-0.553965	0.16947	T	0.0288878418279347	0.01820	T	0.750625	0.37241	T	0.059695754	0.12161	0.10918052	0.26309	0.059695754	0.12161	0.10918052	0.26308	-5.531	0.42157	T	.	.	0.094	0.14431	B	.	.	1.724231	0.21947	15.42	0.9888946252360642	0.47984	0.93020	0.57124	D	AEFBI	0.345743	0.44079	N	-0.0387931629623697	0.40105	2.37605	0.0539609993363731	0.42265	2.553303	0.400599700177465	0.20127	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	4.047000	0.57095	.	.	-0.803000	0.03144	0.979000	0.35152	1.000000	0.68203	0.053000	0.15439	0.0765:0.0:0.9235:0.0	13.840	0.62931	867	0.32089	Ribosome biogenesis protein BMS1/TSR1, C-terminal|Ribosome biogenesis protein BMS1/TSR1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016129	0.000000	0.005495	0.021930	0.000000	0.017241	0.011029	0.037815	0.1	1338.14	33	chr10	42820245	.	G	A	1338.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=382;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.28;SOR=0.777	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	8	0	2	0
chr10	43206023	43206023	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon2:c.G118A:p.G40S,RASGEF1A:NM_145313:exon2:c.G94A:p.G32S	.	421	1075	1	0	25	26	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0012	0.0355431	0.0223	0.0034	0.0008	0.1112	0.0296	0.0023	0.0198	0.0691	0.0154461	2388	154602	rs117610424	0.0082	0.0082	0.0068	0.0096	0.1059	0.0081	0.0080	0.1032	0.1021	0.0013	0.0005	0.0029	0.1059	0.0217	0.0057	0.0005	0.0106	0.0612	0.0086	0.0087	0.0062	0.0112	0.0964	0.0082	0.0081	0.0895	0.0867	0.0020	0	0.0012	0.0032	0.0964	0.0240	0.0034	0.0014	0.0061	0.0702	0.714	0.04032	T	0.728	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.141388	0.02889	N	1.688360	1	0.08975	N	0	0.06538	N	-0.29	0.67712	T	0.34	0.03955	N	0.077	0.05162	-1.1060	0.03437	T	0.002	0.00526	T	10	0.0016499162	0.00020	T	.	.	.	0.038	0.09825	.	.	.	.	0.1659222229049595	0.16512	0.724846526864	0.62416	0.330052435398	0.14942	T	0.00418	0.03591	T	-0.626039	0.00101	T	-0.59456	0.13274	T	0.000216800669837077	0.00001	T	0.377862	0.09347	T	0.026439305	0.01702	0.038807113	0.03831	0.026439305	0.01702	0.038807113	0.03830	-4.742	0.34916	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	-0.177307	0.03209	0.533	0.54145436056785945	0.05079	0.07866	0.13857	N	AEFBI	0.068383	0.13486	N	-1.7530624372783	0.00670	0.0289256	-1.79795619577989	0.00766	0.03414931	0.999932391636118	0.46732	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.68	-6.04	0.01995	-0.579000	0.05927	-5.905000	0.01557	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1782:0.1384:0.6834	7.288	0.25522	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008081	0.005051	0.000000	0.008824	0.000000	0.017241	0.000000	0.026515	0.05	1418.43	36	chr10	43206023	.	C	T	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.197;DP=403;ExcessHet=0;FS=1.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.09;ReadPosRankSum=-0.485;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1530:.	9	0	1	0
chr10	43481660	43481660	G	A	exonic	ZNF487	.	nonsynonymous SNV	ZNF487:NM_001355447:exon3:c.G374A:p.S125N,ZNF487:NM_001355449:exon3:c.G269A:p.S90N,ZNF487:NM_001355450:exon3:c.G269A:p.S90N,ZNF487:NM_001355444:exon4:c.G362A:p.S121N,ZNF487:NM_001355445:exon4:c.G362A:p.S121N,ZNF487:NM_001355448:exon4:c.G470A:p.S157N,ZNF487:NM_001355446:exon5:c.G362A:p.S121N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000550353201086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.873e-06	1.59e-06	0	3.477e-06	3.279e-06	0	0	.	.	0	0	0	0	0	0	3.279e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.19	0.18724	T	2.0	0.01024	N	0.024	0.00445	-0.9681	0.37592	T	0.027	0.11441	T	8	0.030618846	0.01189	T	5.5E-4	0.00208	T	0.018	0.03083	0.328	0.31196	0.0297737177859	0.01360	.	.	0.392667314243	0.40446	0.384962648153	0.22958	T	.	.	.	-0.327952	0.06268	T	-0.708857	0.05354	T	0.0599731081836641	0.07165	T	0.29617	0.05481	T	.	.	.	.	.	.	.	.	-3.051	0.10741	T	.	.	.	.	.	.;.	.;.	0.035269	0.04530	1.226	0.87925955858789773	0.17585	0.00162	0.00966	N	AEFBI	0.015865	0.00323	N	-1.23718657285096	0.04471	0.2018703	-1.35278657840922	0.03773	0.1766945	4.11571877177577E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	1.71	-0.771	0.10448	-0.688000	0.05251	-13.729000	0.00442	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	0.6338:0.0:0.3662:0.0	5.243	0.14799	842	0.36989	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	967.43	39	chr10	43481660	.	G	A	967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.384;DP=401;ExcessHet=0;FS=0.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=0.022;SOR=0.549	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,111,1234	9	0	1	0
chr10	45826877	45826877	T	C	exonic	AGAP4	.	nonsynonymous SNV	AGAP4:NM_133446:exon7:c.A1030G:p.M344V,AGAP4:NM_001276343:exon8:c.A1099G:p.M367V,AGAP4:NM_001291379:exon10:c.A775G:p.M259V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00943947346228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.429e-06	4.025e-06	3.426e-06	3.431e-06	6.117e-05	8e-07	5.4e-07	2.027e-05	1.162e-05	0	0	0	0	0	0	0	0	6.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.399	0.17115	T	0.0	0.02946	B	0.002	0.06944	B	0.006603	0.01132	N	3.778880	0.999887	0.19853	N	0.77	0.19370	N	-1.05	0.76690	T	-2.0	0.46146	N	0.062	0.04547	-0.9011	0.47878	T	0.239	0.60643	T	8	0.071650684	0.10590	T	0.009439	0.24739	T	0.184	0.45763	.	.	0.0666544352282	0.05500	0.02741566460127774	0.02691	.	.	0.425742506981	0.28626	T	0.020873	0.16353	T	-0.193915	0.21685	T	-0.516322	0.20669	T	0.0973491370677948	0.12063	T	0.311569	0.06236	T	0.14492618	0.33244	0.14004065	0.33393	0.14492618	0.33244	0.14004065	0.33393	-5.016	0.37013	T	.	.	0.073	0.08802	B	.;.;.;.	.;.;.;.	0.596677	0.09652	6.423	0.26646773665428941	0.01286	0.06537	0.12550	N	AEFI	0.049838	0.08651	N	-0.968987982192874	0.09271	0.4381026	-0.991973621973942	0.09964	0.4989322	1.09754072625086E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	.	.	.	0.088000	0.14821	-1.155000	0.06169	0.182000	0.17807	0.003000	0.16062	0.000000	0.08366	0.029000	0.12982	.	.	.	751	0.51694	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	104.43	9	chr10	45826877	.	T	C	104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=374;ExcessHet=0;FS=2.808;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=24.24;MQRankSum=0.18;QD=10.44;ReadPosRankSum=-0.1;SOR=1.919	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr10	46308581	46308581	A	G	exonic	ANTXRL	.	nonsynonymous SNV	ANTXRL:NM_001354208:exon14:c.A65G:p.H22R	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	.	.	.	.	.	.	.	.	0.0037268	97	26028	rs138235353	0.0040	0.0023	0.0044	0.0036	0.0061	0.0038	0.0037	0.0058	0.0056	0.0008	0.0035	0.0006	0	0.0013	0.0025	0.0061	0.0035	0.0008	0.0036	0.0036	0.0036	0.0035	0.0062	0.0033	0.0032	0.0058	0.0056	0.0009	0	0.0028	0.0006	0	0.0014	0	0.0062	0.0066	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	453.43	32	chr10	46308581	.	A	G	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.099;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.868;SOR=0.917	GT:AD:DP:GQ:PL	0/0:31,0:31:93:0,93,917	9	0	1	0
chr10	46462315	46462315	C	T	exonic	NPY4R	.	stopgain	NPY4R:NM_001278794:exon2:c.G321A:p.W107X,NPY4R:NM_005972:exon3:c.G321A:p.W107X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.839	0.0546725424688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.968e-06	3.425e-06	2.977e-06	2.958e-06	2.296e-05	6.9e-07	4.7e-07	.	.	0	2.296e-05	7.91e-05	0	0	0	9.89e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.469501	0.96549	36	.	.	.	.	.	.	0.302460	0.41070	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.713000	0.68067	7.247000	0.57918	0.568000	0.28809	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1122.43	377	chr10	46462315	.	C	T	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.09;DP=709;ExcessHet=0;FS=2.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.37;MQRankSum=0.342;QD=2.98;ReadPosRankSum=-1.209;SOR=0.515	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr10	46549598	46549598	C	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385276:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385282:exon3:c.G1139A:p.R380Q,GPRIN2:NM_014696:exon3:c.G1139A:p.R380Q,GPRIN2:NM_001385277:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385278:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385279:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385280:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385281:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385283:exon4:c.G1139A:p.R380Q,GPRIN2:NM_001385287:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385289:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385300:exon4:c.G1211A:p.R404Q,GPRIN2:NM_001385291:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385293:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385294:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385295:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385296:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385301:exon5:c.G1211A:p.R404Q,GPRIN2:NM_001385297:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385298:exon6:c.G1211A:p.R404Q,GPRIN2:NM_001385299:exon6:c.G1211A:p.R404Q	.	396	1102	23	1	0	25	0.0112158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0142984692189	.	.	.	.	.	.	.	.	.	.	.	.	.	rs150696937	0.0034	0.0068	0.0035	0.0034	0.0095	0.0033	0.0033	0.0075	0.0068	0.0008	0.0026	0.0079	0	0.0009	0.0095	0.0038	0.0038	0.0015	0.0026	0.0049	0.0029	0.0024	0.0038	0.0024	0.0023	0.0034	0.0032	0.0010	0	0.0030	0.0082	0.0004	0.0008	0.0105	0.0038	0.0029	0.0023	0.016	0.51853	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.9	0.72932	D	0.212	0.23632	.	.	.	.	.	.	.	0.03615442	0.01899	T	.	.	.	.	.	.	.	.	.	0.5480051513584038	0.54726	.	.	.	.	.	0.064308	0.32400	T	.	.	.	.	.	.	.	.	.	0.832417	0.50060	T	.	.	.	.	.	.	.	.	-5.983	0.46138	T	.	.	0.079	0.08609	B	.;.	.;.	3.526453	0.49461	22.8	.	.	.	.	.	.	0.226162	0.35015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.414000	0.44281	0.153000	0.15315	0.549000	0.26987	0.991000	0.37257	0.006000	0.19429	0.975000	0.56047	.	.	.	970	0.06235	G protein-regulated inducer of neurite outgrowth, C-terminal;G protein-regulated inducer of neurite outgrowth, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1327.43	335	chr10	46549598	.	C	T	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=2949;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.96;ReadPosRankSum=-0.956;SOR=0.715	GT:AD:DP:GQ:PL	0/0:245,0:245:99:0,120,1800	9	0	1	0
chr10	46549752	46549752	G	C	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C985G:p.P329A,GPRIN2:NM_001385276:exon3:c.C985G:p.P329A,GPRIN2:NM_001385282:exon3:c.C985G:p.P329A,GPRIN2:NM_014696:exon3:c.C985G:p.P329A,GPRIN2:NM_001385277:exon4:c.C985G:p.P329A,GPRIN2:NM_001385278:exon4:c.C985G:p.P329A,GPRIN2:NM_001385279:exon4:c.C985G:p.P329A,GPRIN2:NM_001385280:exon4:c.C985G:p.P329A,GPRIN2:NM_001385281:exon4:c.C985G:p.P329A,GPRIN2:NM_001385283:exon4:c.C985G:p.P329A,GPRIN2:NM_001385287:exon4:c.C1057G:p.P353A,GPRIN2:NM_001385289:exon4:c.C1057G:p.P353A,GPRIN2:NM_001385300:exon4:c.C1057G:p.P353A,GPRIN2:NM_001385291:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385293:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385294:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385295:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385296:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385301:exon5:c.C1057G:p.P353A,GPRIN2:NM_001385297:exon6:c.C1057G:p.P353A,GPRIN2:NM_001385298:exon6:c.C1057G:p.P353A,GPRIN2:NM_001385299:exon6:c.C1057G:p.P353A	.	402	1104	16	0	0	16	0.00719424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025847	3996	154602	rs145616440	0.0013	0.0018	0.0011	0.0016	0.0078	0.0013	0.0013	0.0073	0.0071	0.0002	0.0007	0.0064	0	0.0001	0.0052	0.0009	0.0017	0.0078	0.0010	0.0014	0.0011	0.0010	0.0089	0.0009	0.0008	0.0068	0.0061	7.21e-05	0	0.0006	0.0049	0.0002	9.407e-05	0	0.0012	0.0005	0.0089	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.94	0.03408	T	-2.27	0.50666	N	0.12	0.14763	.	.	.	.	.	.	.	0.008723378	0.00198	T	.	.	.	.	.	.	.	.	.	0.09040861771506424	0.08973	.	.	.	.	.	0.002657	0.02045	T	.	.	.	.	.	.	.	.	.	0.474753	0.14169	T	.	.	.	.	.	.	.	.	-2.293	0.04517	T	.	.	0.061	0.01092	B	.;.	.;.	-0.060755	0.03882	0.846	.	.	.	.	.	.	0.064288	0.12475	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059000	0.14199	0.257000	0.16498	0.618000	0.50648	0.001000	0.13787	0.449000	0.24943	0.617000	0.31819	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	760.43	257	chr10	46549752	.	G	C	760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.254;DP=1912;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.47;ReadPosRankSum=-0.815;SOR=0.713	GT:AD:DP:GQ:PL	0/0:137,0:137:99:0,120,1800	9	0	1	0
chr10	46550184	46550184	A	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.T553A:p.S185T,GPRIN2:NM_001385276:exon3:c.T553A:p.S185T,GPRIN2:NM_001385282:exon3:c.T553A:p.S185T,GPRIN2:NM_014696:exon3:c.T553A:p.S185T,GPRIN2:NM_001385277:exon4:c.T553A:p.S185T,GPRIN2:NM_001385278:exon4:c.T553A:p.S185T,GPRIN2:NM_001385279:exon4:c.T553A:p.S185T,GPRIN2:NM_001385280:exon4:c.T553A:p.S185T,GPRIN2:NM_001385281:exon4:c.T553A:p.S185T,GPRIN2:NM_001385283:exon4:c.T553A:p.S185T,GPRIN2:NM_001385287:exon4:c.T625A:p.S209T,GPRIN2:NM_001385289:exon4:c.T625A:p.S209T,GPRIN2:NM_001385300:exon4:c.T625A:p.S209T,GPRIN2:NM_001385291:exon5:c.T625A:p.S209T,GPRIN2:NM_001385293:exon5:c.T625A:p.S209T,GPRIN2:NM_001385294:exon5:c.T625A:p.S209T,GPRIN2:NM_001385295:exon5:c.T625A:p.S209T,GPRIN2:NM_001385296:exon5:c.T625A:p.S209T,GPRIN2:NM_001385301:exon5:c.T625A:p.S209T,GPRIN2:NM_001385297:exon6:c.T625A:p.S209T,GPRIN2:NM_001385298:exon6:c.T625A:p.S209T,GPRIN2:NM_001385299:exon6:c.T625A:p.S209T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.29	0.21011	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.59	0.04544	T	-1.42	0.34992	N	0.275	0.31140	.	.	.	.	.	.	.	0.18407309	0.33764	T	.	.	.	.	.	.	.	.	.	0.3994486711268477	0.39859	.	.	.	.	.	0.018508	0.14910	T	.	.	.	.	.	.	.	.	.	0.492951	0.15215	T	.	.	.	.	.	.	.	.	-3.761	0.20223	T	.	.	0.094	0.14385	B	.;.	.;.	3.217380	0.43821	21.8	.	.	.	.	.	.	0.115873	0.22764	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.333000	0.33421	1.882000	0.29459	0.756000	0.94297	0.883000	0.31049	0.836000	0.27257	0.612000	0.31691	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	834.43	126	chr10	46550184	.	A	T	834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.632;DP=1287;ExcessHet=0;FS=3.217;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.35;ReadPosRankSum=1.25;SOR=1.013	GT:AD:DP:GQ:PL	0/1:112,44:156:99:846,0,2956	9	0	1	0
chr10	46550328	46550328	G	A	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C409T:p.R137W,GPRIN2:NM_001385276:exon3:c.C409T:p.R137W,GPRIN2:NM_001385282:exon3:c.C409T:p.R137W,GPRIN2:NM_014696:exon3:c.C409T:p.R137W,GPRIN2:NM_001385277:exon4:c.C409T:p.R137W,GPRIN2:NM_001385278:exon4:c.C409T:p.R137W,GPRIN2:NM_001385279:exon4:c.C409T:p.R137W,GPRIN2:NM_001385280:exon4:c.C409T:p.R137W,GPRIN2:NM_001385281:exon4:c.C409T:p.R137W,GPRIN2:NM_001385283:exon4:c.C409T:p.R137W,GPRIN2:NM_001385287:exon4:c.C481T:p.R161W,GPRIN2:NM_001385289:exon4:c.C481T:p.R161W,GPRIN2:NM_001385300:exon4:c.C481T:p.R161W,GPRIN2:NM_001385291:exon5:c.C481T:p.R161W,GPRIN2:NM_001385293:exon5:c.C481T:p.R161W,GPRIN2:NM_001385294:exon5:c.C481T:p.R161W,GPRIN2:NM_001385295:exon5:c.C481T:p.R161W,GPRIN2:NM_001385296:exon5:c.C481T:p.R161W,GPRIN2:NM_001385301:exon5:c.C481T:p.R161W,GPRIN2:NM_001385297:exon6:c.C481T:p.R161W,GPRIN2:NM_001385298:exon6:c.C481T:p.R161W,GPRIN2:NM_001385299:exon6:c.C481T:p.R161W	.	394	1109	19	0	0	19	0.00849352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs140859626	0.0019	0.0025	0.0018	0.0020	0.0086	0.0018	0.0018	0.0066	0.0060	0.0003	0.0014	0.0100	0	3.814e-05	0.0086	0.0017	0.0028	0.0033	0.0014	0.0020	0.0016	0.0013	0.0025	0.0013	0.0012	0.0016	0.0015	0.0003	0.0034	0.0013	0.0104	0	0	0.0103	0.0019	0.0028	0.0025	0.073	0.34800	T	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.8	0.03781	T	-2.59	0.55821	D	0.166	0.17553	.	.	.	.	.	.	.	0.016067445	0.00338	T	.	.	.	.	.	.	.	.	.	0.18825813848168782	0.18743	.	.	.	.	.	0.028429	0.20594	T	.	.	.	.	.	.	.	.	.	0.683432	0.29175	T	.	.	.	.	.	.	.	.	-4.077	0.24950	T	.	.	0.093	0.14015	B	.;.	.;.	2.289579	0.29282	18.07	.	.	.	.	.	.	0.085239	0.17279	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.130000	0.10477	3.199000	0.36741	0.676000	0.76740	0.000000	0.06391	0.883000	0.27730	0.895000	0.43227	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	643.43	126	chr10	46550328	.	G	A	643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.625;DP=1244;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.36;ReadPosRankSum=2.19;SOR=0.811	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	9	0	1	0
chr10	46550688	46550688	G	T	exonic	GPRIN2	.	nonsynonymous SNV	GPRIN2:NM_001385275:exon3:c.C49A:p.R17S,GPRIN2:NM_001385276:exon3:c.C49A:p.R17S,GPRIN2:NM_001385282:exon3:c.C49A:p.R17S,GPRIN2:NM_014696:exon3:c.C49A:p.R17S,GPRIN2:NM_001385277:exon4:c.C49A:p.R17S,GPRIN2:NM_001385278:exon4:c.C49A:p.R17S,GPRIN2:NM_001385279:exon4:c.C49A:p.R17S,GPRIN2:NM_001385280:exon4:c.C49A:p.R17S,GPRIN2:NM_001385281:exon4:c.C49A:p.R17S,GPRIN2:NM_001385283:exon4:c.C49A:p.R17S,GPRIN2:NM_001385287:exon4:c.C121A:p.R41S,GPRIN2:NM_001385289:exon4:c.C121A:p.R41S,GPRIN2:NM_001385300:exon4:c.C121A:p.R41S,GPRIN2:NM_001385291:exon5:c.C121A:p.R41S,GPRIN2:NM_001385293:exon5:c.C121A:p.R41S,GPRIN2:NM_001385294:exon5:c.C121A:p.R41S,GPRIN2:NM_001385295:exon5:c.C121A:p.R41S,GPRIN2:NM_001385296:exon5:c.C121A:p.R41S,GPRIN2:NM_001385301:exon5:c.C121A:p.R41S,GPRIN2:NM_001385297:exon6:c.C121A:p.R41S,GPRIN2:NM_001385298:exon6:c.C121A:p.R41S,GPRIN2:NM_001385299:exon6:c.C121A:p.R41S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00542809558327	.	0.000199681	3.73e-05	0	0	0	0	4.844e-05	0	0.0001	3.88e-05	6	154602	rs570249207	2.871e-05	3.762e-05	2.165e-05	3.605e-05	3.572e-05	2.149e-05	1.887e-05	2.655e-05	2.324e-05	0	0	0	0	0	0	3.572e-05	1.79e-05	0	1.313e-05	2.626e-05	2.568e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.37	0.11550	T	0.129	0.34837	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84	0.03675	T	-0.56	0.17003	N	0.117	0.10626	.	.	.	.	.	.	.	0.067548275	0.09427	T	.	.	.	.	.	.	.	.	.	0.2869772174484625	0.28610	.	.	.	.	.	0.007099	0.06517	T	.	.	.	.	.	.	.	.	.	0.351465	0.07848	T	.	.	.	.	.	.	.	.	-3.885	0.22077	T	.	.	0.150	0.34514	B	.;.	.;.	0.385240	0.07572	4.225	.	.	.	.	.	.	0.117223	0.22974	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.007000	0.12747	-1.426000	0.05467	-0.704000	0.03997	0.010000	0.18352	0.000000	0.08366	0.049000	0.15107	.	.	.	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	228.43	76	chr10	46550688	.	G	T	228.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=541;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=-0.393;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1266	9	0	1	0
chr10	46580201	46580203	GCT	-	exonic	SYT15	.	nonframeshift deletion	SYT15:NM_031912:exon2:c.45_47del:p.L21del,SYT15:NM_181519:exon2:c.45_47del:p.L21del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368995487	0.0006	0.0030	0.0006	0.0006	0.0008	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0007	0.0002	0.0007	0.0007	0.0006	0.0006	0.0008	7.767e-06	2.06e-05	0	1.606e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	66.4	10	chr10	46580200	.	GGCT	G	66.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=176;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=16.6;ReadPosRankSum=-0.431;SOR=0.693	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,314	9	0	1	0
chr10	47368096	47368096	T	G	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.A734C:p.Q245P,ZNF488:NM_001346933:exon3:c.A734C:p.Q245P,ZNF488:NM_001346934:exon3:c.A734C:p.Q245P,ZNF488:NM_001346935:exon3:c.A734C:p.Q245P,ZNF488:NM_001346936:exon3:c.A734C:p.Q245P,ZNF488:NM_001346932:exon4:c.A734C:p.Q245P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.002335794735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89	0.31987	T	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.08178657	0.13426	T	.	.	.	.	.	.	.	.	.	0.8664288151955544	0.86607	.	.	.	.	.	0.002128	0.01528	T	.	.	.	.	.	.	.	.	.	0.283072	0.04975	T	.	.	.	.	.	.	.	.	-3.053	0.10763	T	.	.	0.066	0.02518	B	.;.	.;.	-0.382725	0.02277	0.237	.	.	.	.	.	.	0.104218	0.20859	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221000	0.17463	-1.358000	0.05630	-0.686000	0.04175	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1172.43	94	chr10	47368096	.	T	G	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.114;DP=487;ExcessHet=0;FS=3.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.976;SOR=0.367	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr10	47368727	47368727	G	A	exonic	ZNF488	.	stopgain	ZNF488:NM_153034:exon2:c.C103T:p.R35X,ZNF488:NM_001346933:exon3:c.C103T:p.R35X,ZNF488:NM_001346934:exon3:c.C103T:p.R35X,ZNF488:NM_001346935:exon3:c.C103T:p.R35X,ZNF488:NM_001346936:exon3:c.C103T:p.R35X,ZNF488:NM_001346932:exon4:c.C103T:p.R35X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs782230600	5.75e-05	5.814e-05	6.403e-05	5.091e-05	0.0002	4.746e-05	4.369e-05	8.862e-05	6.428e-05	0	0.0002	0	0	0	0	6.115e-05	0.0001	0	1.969e-05	1.968e-05	2.569e-05	1.342e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.604570	0.92485	32	.	.	.	.	.	.	0.094881	0.19178	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.146000	0.10233	-0.239000	0.10608	-0.873000	0.02525	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1594.43	93	chr10	47368727	.	G	A	1594.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=1.46;SOR=0.665	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	9	0	1	0
chr10	47502586	47502586	G	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.C1543T:p.R515C	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370239470	0.0003	0.0004	0.0003	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	2.998e-05	0.0008	0	2.526e-05	0	0	0.0004	0.0003	1.162e-05	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0004	0.0018	0.0016	0.0002	0	0.0025	0	0	0	0	0.0004	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	0.47130	T	-7.27	0.94404	D	0.365	0.40665	.	.	.	.	.	.	.	0.013205469	0.00281	T	.	.	.	.	.	.	.	0.572725987618	0.56939	0.06998741299907985	0.06935	.	.	.	.	.	.	.	.	0.128186	0.67183	D	-0.0536467	0.66773	D	.	.	.	0.989957	0.96858	D	.	.	.	.	.	.	.	.	-9.151	0.68664	D	.	.	0.178	0.38818	B	.	.	3.537676	0.49663	22.8	0.64794825470173933	0.07592	0.32125	0.24508	N	AEFI	.	.	.	.	.	.	.	.	.	7.22855857447873E-6	0.01202	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.0891036	0.20137	0.109	0.109	0.13884	2.196000	0.42320	0.773000	0.21413	0.164000	0.17730	1.000000	0.71638	0.001000	0.17328	0.013000	0.09966	6.0E-4:0.0:0.9994:0.0	5.991	0.18695	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3228.43	34	chr10	47502586	.	G	A	3228.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=851;ExcessHet=0;FS=6.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.77;MQRankSum=8.61;QD=16.9;ReadPosRankSum=3.19;SOR=0.389	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	9	0	1	0
chr10	47502957	47502957	G	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.C1172T:p.P391L	.	440	1073	8	1	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.747455093348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181170818	0.0006	0.0006	0.0006	0.0006	0.0035	0.0006	0.0006	0.0023	0.0019	0.0002	9.179e-05	3.858e-05	2.553e-05	3.767e-05	0.0035	0.0007	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0	0.0002	0.205	0.20002	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	0.12371	T	-5.11	0.83092	D	0.221	0.24758	.	.	.	.	.	.	.	0.17645505	0.32630	T	.	.	.	.	.	.	.	.	.	0.03470515512891299	0.03417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754325	0.37688	T	.	.	.	.	.	.	.	.	-3.704	0.19377	T	.	.	0.076	0.05890	B	.	.	2.631763	0.34221	19.57	.	.	.	.	.	.	0.173174	0.30025	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.293000	0.43219	-0.011000	0.13060	0.164000	0.17730	0.995000	0.38783	0.012000	0.20211	0.029000	0.12982	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	4770.45	34	chr10	47502957	.	G	A	4770.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.72;DP=792;ExcessHet=0.7463;FS=1.303;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.62;MQRankSum=-3.829;QD=13.99;ReadPosRankSum=0.261;SOR=0.779	GT:AD:DP:GQ:PL	0/1:46,64:110:99:1812,0,1085	7	0	3	0
chr10	47503089	47503098	AGGGATGGCC	-	exonic	AGAP9	.	stopgain	AGAP9:NM_001190810:exon8:c.1031_1040del:p.W344*	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190393193	2.6e-05	2.599e-05	1.634e-05	3.575e-05	0.0004	1.933e-05	1.692e-05	7.999e-05	6.237e-05	0	0	3.826e-05	0	0	0.0004	1.888e-05	3.312e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4706.1	34	chr10	47503088	.	TAGGGATGGCC	T	4706.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.38;DP=1144;ExcessHet=0.2348;FS=0.593;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=45.39;MQRankSum=1.45;QD=8.88;ReadPosRankSum=-1.471;SOR=0.76	GT:AD:DP:GQ:PL	0/1:183,80:263:99:2781,0,7353	8	0	2	0
chr10	47503387	47503387	T	C	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A742G:p.M248V	.	434	1065	23	0	0	23	0.0106828	.	.	.	2813128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0021	0	0	0	0.0020	0	0	0.0002689	7	26028	rs199638710	0.0001	0.0009	8.468e-05	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	6.036e-05	6.717e-05	0.0009	0	0	0.0007	7.123e-05	0.0002	0.0007	9.451e-05	0.0002	5.273e-05	0.0001	0.0009	5.673e-05	4.479e-05	0.0003	0.0002	0.0001	0	0	0.0006	0	0	0	4.436e-05	0	0.0009	0.132	0.26519	T	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	0.44856	T	-1.24	0.31375	N	0.086	0.06322	.	.	.	.	.	.	.	0.00929603	0.00210	T	.	.	.	.	.	.	.	0.354610295913	0.35065	0.02193780874142853	0.02145	.	.	.	.	.	.	.	.	-0.299579	0.08699	T	-0.196136	0.55012	T	.	.	.	0.675032	0.28342	T	.	.	.	.	.	.	.	.	-3.695	0.19244	T	.	.	0.068	0.02797	B	.	.	1.062155	0.14442	11.01	0.6049860810602804	0.06478	0.49735	0.28501	N	AEFI	.	.	.	.	.	.	.	.	.	6.47738046360823E-5	0.04366	0.294411	0.05044	0	0.195528	0.04277	0	0.277913	0.05378	0	0.101684	0.03063	0	0.588178	0.40606	0.109	0.109	0.13884	1.905000	0.39508	0.541000	0.19334	-1.309000	0.01237	1.000000	0.71638	0.136000	0.23046	0.085000	0.17524	0.0:4.0E-4:0.0:0.9996	4.622	0.11842	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	369.43	34	chr10	47503387	.	T	C	369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.592;DP=788;ExcessHet=0;FS=0.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.79;MQRankSum=-2.645;QD=1.8;ReadPosRankSum=0.639;SOR=0.8	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,105,1575	9	0	1	0
chr10	47503517	47503517	T	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.A612C:p.K204N	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0	0.0071	0	0	0.0026	0	0	.	.	.	rs1173461793	7.4e-05	0.0002	5.18e-05	9.643e-05	0.0007	6.258e-05	5.816e-05	0.0005	0.0005	0	4.484e-05	0	0	9.381e-05	0	3.78e-05	3.317e-05	0.0007	6.182e-05	7.253e-05	6.68e-05	5.654e-05	0.0002	3.203e-05	2.401e-05	4.819e-05	3.374e-05	0	0	6.848e-05	0	0	0	0	0.0001	0	0.0002	0.459	0.08762	T	0.553	0.09329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74	0.11730	T	-0.79	0.21860	N	0.094	0.07398	.	.	.	.	.	.	.	0.0052042603	0.00113	T	.	.	.	.	.	.	.	0.159798565429	0.15598	0.0035491949411939647	0.00331	.	.	.	.	.	.	.	.	-0.0515163	0.44216	T	-0.311776	0.43467	T	.	.	.	0.607439	0.22904	T	.	.	.	.	.	.	.	.	-3.565	0.17353	T	.	.	0.147	0.32372	B	.	.	0.585376	0.09539	6.315	0.14660683202980249	0.00331	0.01719	0.05448	N	AEFI	.	.	.	.	.	.	.	.	.	3.63124987450781E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.101684	0.03063	0	0.0852691	0.19417	0.109	-0.218	0.12495	-0.200000	0.09480	-10.652000	0.00679	0.142000	0.17677	0.998000	0.41325	0.000000	0.08366	0.005000	0.06747	0.0:0.3273:0.3353:0.3374	2.177	0.03628	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	97.43	34	chr10	47503517	.	T	G	97.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.43;DP=475;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.81;MQRankSum=0.603;QD=0.86;ReadPosRankSum=-2.163;SOR=1.078	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,105,1575	9	0	1	0
chr10	47523435	47523435	A	G	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon1:c.T92C:p.I31T	.	440	1064	17	1	0	19	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380521698	0.0019	0.0020	0.0016	0.0022	0.0153	0.0019	0.0018	0.0124	0.0113	0.0002	0.0012	0.0085	0	0.0002	0.0153	0.0013	0.0026	0.0093	0.0015	0.0016	0.0016	0.0014	0.0110	0.0014	0.0013	0.0086	0.0078	0.0002	0	0.0008	0.0076	0.0004	0.0002	0	0.0018	0.0020	0.0110	0.084	0.32929	T	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.49	0.89145	D	-0.84	0.22944	N	0.194	0.21319	.	.	.	.	.	.	.	0.024654835	0.00686	T	.	.	.	.	.	.	.	0.428516003163	0.42472	0.0380011833725335	0.03746	.	.	.	.	.	.	.	.	0.319574	0.84442	D	0.221269	0.84238	D	.	.	.	0.549445	0.18903	T	.	.	.	.	.	.	.	.	-2.87	0.08847	T	.	.	0.257	0.49177	B	.	.	1.104214	0.14890	11.41	0.67376507974388811	0.08336	0.01099	0.04035	N	AEFI	.	.	.	.	.	.	.	.	.	1.09790265576154E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.116056	0.24210	1.38	0.143	0.14116	0.355000	0.19902	0.811000	0.21752	0.364000	0.20138	0.110000	0.22992	0.005000	0.19230	0.009000	0.08673	0.7372:0.0:0.2628:0.0	3.227	0.06337	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	328.43	36	chr10	47523435	.	A	G	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.255;DP=262;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=27.19;MQRankSum=-0.982;QD=11.33;ReadPosRankSum=-0.285;SOR=0.693	GT:AD:DP:GQ:PL	0/0:24,0:24:57:0,57,855	9	0	1	0
chr10	47762985	47762985	G	A	exonic	LOC102724488	.	nonsynonymous SNV	LOC102724488:NM_001370182:exon1:c.C20T:p.P7L	.	423	1042	52	5	0	62	0.028891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274217361	0.0100	0.0090	0.0095	0.0105	0.0352	0.0098	0.0097	0.0339	0.0333	0.0008	0.0039	0.0053	0.0001	0.0027	0.0210	0.0092	0.0095	0.0352	0.0067	0.0068	0.0066	0.0068	0.0332	0.0064	0.0062	0.0290	0.0274	0.0016	0.0197	0.0031	0.0066	0.0008	0.0018	0.0069	0.0098	0.0062	0.0332	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.121	0.11197	-0.9927	0.31906	T	0.027	0.11529	T	5	0.0038524568	0.00073	T	.	.	.	.	.	.	.	0.141422826196	0.13715	.	.	.	.	.	.	.	.	.	.	-0.602763	0.00140	T	-0.619679	0.11211	T	0.00701992962231316	0.00080	T	0.442056	0.12263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.47923	B	.	.	0.550080	0.09184	5.969	0.97470783630290847	0.34136	0.02197	0.06416	N	AEFDBCI	.	.	.	-0.557036156197848	0.20264	1.066943	-0.754943317959088	0.15601	0.8213311	0.999999664354138	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	1.65	1.65	0.23015	0.145000	0.15978	-0.515000	0.08723	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.023000	0.12082	0.0:0.0:1.0:0.0	6.756	0.22703	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	401.43	36	chr10	47762985	.	G	A	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.919;DP=281;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=45.83;MQRankSum=-5.162;QD=7.57;ReadPosRankSum=0.408;SOR=0.853	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,421	9	0	1	0
chr10	47922308	47922308	G	A	exonic	NPY4R;NPY4R2	.	stopgain	NPY4R:NM_001278794:exon2:c.G321A:p.W107X,NPY4R2:NM_001278795:exon2:c.G321A:p.W107X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781934159	2.039e-06	1.113e-06	0	3.88e-06	.	0	0	.	.	0	0	6.554e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	7.797625	0.96871	36	0.99604310179496169	0.74397	0.93919	0.59572	D	AEFDBCI	.	.	.	0.820339507489889	0.87359	9.191286	0.653377779233862	0.78863	6.962493	1.0	0.98316	0.62174	0.39705	0	0.563428	0.19063	0	0.491614	0.08109	1	0.562822	0.20929	0	.	.	5.0	5.0	0.66209	7.545000	0.81074	10.923000	0.84246	0.364000	0.20138	1.000000	0.71638	1.000000	0.68203	0.679000	0.33513	0.0:0.0:1.0:0.0	16.172	0.81640	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	86.24	10	chr10	47922308	.	G	A	86.24	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=132;ExcessHet=0;FS=0;InbreedingCoeff=-0.1085;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=8.62;ReadPosRankSum=1.69;SOR=0.412	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,115	9	0	1	0
chr10	48743001	48743001	C	T	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon12:c.C1912T:p.R638C,WDFY4:NM_020945:exon12:c.C1912T:p.R638C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0210438739144	.	0.000798722	0.0001	0	0	0.0037	0	0	0.0043	0	8.41e-05	13	154602	rs148252819	0.0002	0.0002	0.0002	0.0002	0.0064	0.0002	0.0002	0.0058	0.0055	0	2.801e-05	0	0.0064	0	0	5.562e-06	0.0006	3.787e-05	0.0002	0.0002	0.0002	0.0003	0.0070	0.0002	0.0002	0.0052	0.0046	0	0	6.539e-05	0	0.0070	0	0	0	0	0	0.0	0.91255	D	0.003	0.76473	D	0.995	0.67487	D	0.446	0.45959	B	.	.	.	.	0.601348	0.32541	D	2.095	0.58118	M	0.55	0.54728	T	-5.58	0.86450	D	0.266	0.30118	-0.5034	0.68527	T	0.203	0.56087	T	8	0.0079832375	0.00181	T	0.021044	0.43757	T	0.274	0.59007	.	.	0.465464902746	0.46175	0.5138848107500441	0.51310	.	.	0.314360737801	0.12566	T	0.240399	0.60871	T	-0.330352	0.06085	T	-0.237909	0.51002	T	0.213245000141729	0.21122	T	0.89891	0.64583	D	0.41952437	0.62060	0.41268754	0.65464	0.41952437	0.62061	0.41268754	0.65464	-7.075	0.54580	T	.	.	0.114	0.22717	B	.	.	4.306019	0.65784	24.9	0.99936301597735078	0.99621	0.92126	0.55002	D	AEFBI	0.595852	0.59024	D	0.53613356060736	0.69242	5.329252	0.572226561163548	0.72955	5.89225	0.999996827438814	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	5.296000	0.65493	5.937000	0.51416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.490	0.90792	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1218.43	33	chr10	48743001	.	C	T	1218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=416;ExcessHet=0;FS=2.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.231;SOR=1.031	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1218	9	0	1	0
chr10	49323092	49323092	A	T	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.A547T:p.S183C	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0092	0.00758786	0.0079	0.0022	0.0070	0.0001	0.0038	0.0102	0.0100	0.0085	0.0080529	1245	154602	rs41281949	0.0100	0.0100	0.0101	0.0100	0.0177	0.0099	0.0098	0.0149	0.0139	0.0019	0.0076	0.0145	2.519e-05	0.0029	0.0177	0.0110	0.0103	0.0086	0.0074	0.0074	0.0079	0.0069	0.0116	0.0070	0.0069	0.0109	0.0106	0.0017	0.0011	0.0088	0.0130	0.0002	0.0025	0.0170	0.0116	0.0104	0.0068	0.006	0.61437	D	0.021	0.58089	D	.	.	.	.	.	.	0.002841	0.35836	N	0.125201	1	0.08975	N	.	.	.	3.55	0.04746	T	-2.0	0.46146	N	0.153	0.15749	-1.0760	0.08144	T	0.015	0.05897	T	10	0.004517913	0.00093	T	.	.	.	0.119	0.33137	.	.	0.208816687407	0.20498	0.1403066803866565	0.13953	0.759636425302	0.64181	.	.	.	.	.	.	-0.596055	0.00154	T	-0.617937	0.11346	T	0.0422895865630386	0.04108	T	0.625137	0.24143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15877	B	.	.	2.959241	0.39404	21.0	0.9859016734628997	0.43362	0.69784	0.34326	D	AEFDBI	0.175174	0.30233	N	-0.12324221307663	0.36382	2.102203	-0.143773871986047	0.33648	1.92701	0.996569867985503	0.34833	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.19	3.24	0.36257	0.697000	0.25234	2.098000	0.30587	0.756000	0.94297	0.031000	0.20493	0.980000	0.30356	0.993000	0.69303	0.2657:0.0:0.7343:0.0	8.458	0.32074	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.015152	0.023098	0.026316	0.000000	0.017241	0.009146	0.022727	0.05	1712.43	36	chr10	49323092	.	A	T	1712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.587;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.077;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1290	9	0	1	0
chr10	49325727	49325727	C	T	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.C3182T:p.S1061F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0348760490464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433016245	5.005e-06	4.79e-06	5.644e-06	4.349e-06	0.0002	2.08e-06	1.34e-06	3.808e-05	2.256e-05	0	0	0	0.0001	0	0.0002	1.855e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.029326	0.25470	N	0.194590	0.982069	0.81001	D	.	.	.	3.23	0.06931	T	-3.46	0.67705	D	0.433	0.47208	-1.2174	0.00060	T	0.053	0.22501	T	8	0.27307472	0.44854	T	0.034876	0.55972	D	0.150	0.39571	0.341	0.33302	0.242244723065	0.23846	0.42143286071234864	0.42059	0.897905251988	0.70530	.	.	.	.	.	.	-0.284163	0.10232	T	-0.442357	0.28545	T	0.967042148113251	0.67779	D	0.60234	0.22547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24329	B	.	.	3.517635	0.49290	22.8	0.99777850571032911	0.86519	0.93047	0.57193	D	AEFDBI	0.227097	0.35095	N	0.195924467863706	0.51003	3.285178	0.20482451660263	0.50116	3.206964	0.99998203584647	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	2.281000	0.43113	4.006000	0.41118	0.549000	0.26987	0.971000	0.34370	0.999000	0.35428	0.024000	0.12247	0.0:1.0:0.0:0.0	16.280	0.82500	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001225	0.000000	0.000000	0.005747	0.000000	0.000000	0.000000	0.000000	0.05	2004.43	141	chr10	49325727	.	C	T	2004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=911;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.008;SOR=0.767	GT:AD:DP:GQ:PL	0/0:89,0:89:99:0,120,1800	9	0	1	0
chr10	49532621	49532621	T	C	exonic	ERCC6	.	nonsynonymous SNV	ERCC6:NM_000124:exon2:c.A344G:p.N115S,ERCC6:NM_001277058:exon2:c.A344G:p.N115S,ERCC6:NM_001277059:exon2:c.A344G:p.N115S,ERCC6:NM_001346440:exon2:c.A344G:p.N115S	Cerebrooculofacioskeletal syndrome 1, Autosomal recessive;Cockayne syndrome, type B, Autosomal recessive;De Sanctis-Cacchione syndrome, Autosomal recessive;Premature ovarian failure 11, Autosomal dominant;UV-sensitive syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	2114811	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.018	0.0262246162131	0.0002	.	0.0001	0.0009	0.0003	0	0.0002	0	0	0	8.41e-05	13	154602	rs142097249	5.746e-05	5.746e-05	7.487e-05	3.988e-05	0.0009	4.743e-05	4.366e-05	0.0007	0.0006	0.0007	0.0009	0	0	0	0	7.194e-06	9.934e-05	6.956e-05	0.0005	0.0005	0.0004	0.0007	0.0033	0.0004	0.0004	0.0026	0.0023	0.0007	0	0.0033	0	0.0002	0	0	1.47e-05	0.0005	0	0.954	0.02989	T	0.864	0.09022	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.505	0.00499	N	-1.59	0.82076	D	-0.46	0.29525	N	0.016	0.01135	-0.8977	0.48224	T	0.158	0.49161	T	9	0.007536024	0.00171	T	0.026225	0.49152	D	0.018	0.03083	.	.	0.230578612272	0.22657	0.03784740223068174	0.03730	0.0800052449787	0.18510	0.213316202164	0.00960	T	0.071721	0.34278	T	-0.487375	0.00672	T	-0.523297	0.19962	T	0.00172920992722737	0.00018	T	0.521048	0.28627	T	0.09858789	0.23256	0.057887692	0.10604	0.09858789	0.23256	0.057887692	0.10603	-2.193	0.04007	T	.	.	0.055	0.19357	B	.;.;.;.	.;.;.;.	-0.205349	0.03064	0.476	0.33849741560844432	0.02039	0.07797	0.13794	N	AEFDBI	0.049388	0.08528	N	-1.32180955523762	0.03426	0.1530366	-1.26524329773795	0.04909	0.2326876	0.999969671455905	0.48965	0.722319	0.85440	0	0.723133	0.82719	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	5.8	-2.44	0.06126	0.376000	0.20265	0.346000	0.17429	-0.692000	0.04118	0.007000	0.17678	0.014000	0.20376	0.213000	0.22268	0.1273:0.179:0.1273:0.5664	2.521	0.04395	702	0.57624	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2033.43	67	chr10	49532621	.	T	C	2033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.474;DP=601;ExcessHet=0;FS=1.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.14;SOR=0.608	GT:AD:DP:GQ:PL	0/1:102,87:189:99:2045,0,2541	9	0	1	0
chr10	49693888	49693888	A	C	exonic	C10orf53	.	nonsynonymous SNV	C10orf53:NM_001042427:exon2:c.A212C:p.E71A,C10orf53:NM_182554:exon2:c.A212C:p.E71A	.	11	1484	26	1	0	28	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	.	0.0005	0.00559105	0.0037	0.0003	0.0005	0.0029	0.0002	0.0003	0.0044	0.0240	0.0033829	523	154602	rs151088739	0.0018	0.0018	0.0010	0.0026	0.0251	0.0018	0.0018	0.0242	0.0238	0.0002	0.0003	0.0005	0.0016	0	0.0059	0.0002	0.0022	0.0251	0.0012	0.0012	0.0007	0.0018	0.0261	0.0011	0.0010	0.0224	0.0210	0.0005	0	0.0004	0.0003	0.0031	0	0	0.0003	0.0009	0.0261	0.024	0.54683	D	0.065	0.53788	T	0.925	0.51395	P	0.536	0.48739	P	0.027900	0.25687	N	0.263694	0.642776	0.32891	D	.	.	.	.	.	.	-4.05	0.74504	D	0.235	0.37093	-0.1721	0.78377	T	0.328	0.69640	T	8	0.008113354	0.00184	T	.	.	.	0.163	0.42028	.	.	0.247872288689	0.24386	0.22515188280475099	0.22430	0.146165741944	0.16499	.	.	.	0.116495	0.43589	T	-0.309029	0.07834	T	-0.197078	0.54922	T	0.0554698054955021	0.06436	T	0.780122	0.41468	T	0.28914887	0.51913	0.39713305	0.64336	0.28914887	0.51913	0.39713305	0.64336	-3.376	0.15725	T	.	.	0.257	0.54933	B	.;.;.;.	.;.;.;.	3.385103	0.46838	22.4	0.99527744726164491	0.69653	0.97233	0.73478	D	AEFBI	.	.	.	0.537053647311913	0.69297	5.337021	0.569512430203391	0.72764	5.861727	0.998316937861039	0.36741	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.6	5.6	0.84997	5.930000	0.69823	11.100000	0.86102	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	1.0:0.0:0.0:0.0	14.776	0.69352	883	0.28872	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.001359	0.014620	0.000000	0.000000	0.000000	0.022727	0.05	875.43	88	chr10	49693888	.	A	C	875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.627;DP=447;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=1.34;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1171:.	9	0	1	0
chr10	49933321	49933321	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G803A:p.R268H,PARG:NM_001303486:exon3:c.G881A:p.R294H,PARG:NM_001324381:exon3:c.G881A:p.R294H,PARG:NM_003631:exon3:c.G1127A:p.R376H	.	432	941	149	0	0	149	0.0733629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1243634145	3.406e-05	0.0007	3.32e-05	3.492e-05	0.0003	2.607e-05	2.349e-05	0.0002	0.0001	0.0003	0.0001	0	7.62e-05	3.887e-05	0	2.099e-05	1.678e-05	3.522e-05	0.0006	0.0061	0.0005	0.0007	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0.0003	0	0.0001	0.0010	0.0002	.	.	.	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.02462	.	.	.	.	.	.	.	0.073026	0.10979	T	.	.	.	.	.	.	.	.	.	0.1798985972631501	0.17908	.	.	.	.	.	0.052451	0.29163	T	.	.	.	.	.	.	.	.	.	0.510149	0.16261	T	.	.	.	.	.	.	.	.	-4.524	0.31201	T	.	.	0.065	0.02038	B	.;.	.;.	0.608126	0.09765	6.533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518000	0.22554	-2.025000	0.04327	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.570000	0.30651	.	.	.	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	78.43	34	chr10	49933321	.	C	T	78.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.78;DP=710;ExcessHet=0;FS=52.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.02;MQRankSum=-8.423;QD=0.37;ReadPosRankSum=0.573;SOR=5.875	GT:AD:DP:GQ:PL	0/0:214,0:214:60:0,60,5111	9	0	1	0
chr10	49941641	49941641	G	A	exonic	PARG	.	nonsynonymous SNV	PARG:NM_003631:exon1:c.C85T:p.R29W	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	5.472e-06	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.675e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.51112	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.895	0.22405	L	.	.	.	.	.	.	0.305	0.36254	.	.	.	.	.	.	.	0.13407177	0.25517	T	.	.	.	.	.	.	.	0.453307948783	0.44952	0.3171780186858065	0.31630	.	.	0.799564838409	0.81897	T	0.079441	0.36128	T	0.151388	0.69397	D	-0.0203184	0.69008	D	.	.	.	0.907609	0.67324	D	0.30716577	0.53539	0.33888376	0.59661	0.30716577	0.53539	0.33888376	0.59660	-5.673	0.43452	T	.	.	0.203	0.42777	B	.;.	.;.	4.992573	0.82778	27.9	0.98437734877989025	0.41475	0.53263	0.29329	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.996420792596447	0.34736	0.164513	0.03853	0	0.097471	0.02872	0	0.183335	0.04453	0	0.101684	0.03063	0	0.307312	0.35014	2.57	2.57	0.29928	5.201000	0.64999	7.455000	0.58998	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	8.711	0.33546	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2193.43	33	chr10	49941641	.	G	A	2193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.42;MQRankSum=0.735;QD=13.62;ReadPosRankSum=-1.354;SOR=0.675	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr10	50009224	50009224	A	G	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.A1099G:p.M367V,AGAP6:NM_001365867:exon9:c.A496G:p.M166V	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0223904563001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.121e-05	2.326e-05	2.314e-05	1.925e-05	2.519e-05	1.52e-05	1.324e-05	2.62e-06	1.68e-06	0	0	0	2.519e-05	0.0004	0	6.295e-06	3.312e-05	1.159e-05	5.911e-05	5.909e-05	3.852e-05	8.067e-05	0.0002	3.076e-05	2.209e-05	.	.	2.411e-05	0	0	0	0.0002	0.0007	0	0	0	0	.	.	.	0.394	0.17910	T	.	.	.	.	.	.	0.006603	0.01132	N	3.778880	0.999826	0.20203	N	0.965	0.23975	L	-1.05	0.76690	T	.	.	.	0.091	0.08227	-1.0842	0.06553	T	0.048	0.20632	T	8	0.04379469	0.03266	T	0.02239	0.45274	T	0.150	0.39571	.	.	0.0297737177859	0.01360	.	.	.	.	0.43659979105	0.30112	T	0.008067	0.07427	T	-0.400296	0.02305	T	-0.576105	0.14894	T	0.0162337195253797	0.00396	T	0.367963	0.09138	T	0.081580974	0.18751	0.15397315	0.36157	0.081580974	0.18751	0.15397315	0.36156	-5.173	0.38666	T	.	.	0.081	0.09191	B	.;.;.	.;.;.	0.286865	0.06634	3.131	0.2106358670371257	0.00786	0.06436	0.12442	N	AEFI	0.057375	0.10682	N	-1.5253233107696	0.01684	0.07370686	-1.57359766427702	0.01818	0.08282113	3.43645982690171E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	-0.093	0.12988	0.518000	0.22554	-0.992000	0.06676	-1.413000	0.01131	0.444000	0.26519	0.000000	0.08366	0.013000	0.09966	.	.	.	715	0.56137	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	223.43	99	chr10	50009224	.	A	G	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.106;DP=685;ExcessHet=0;FS=1.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.8;MQRankSum=-4.689;QD=0.78;ReadPosRankSum=1.16;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1342	9	0	1	0
chr10	50009732	50009732	T	G	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.T1607G:p.V536G,AGAP6:NM_001365867:exon9:c.T1004G:p.V335G	.	414	1107	1	0	0	1	0.000451467	.	.	.	2697555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.351	0.000699873025321	.	0.000199681	0.0002	0	0.0003	0	0.0012	7.692e-05	0	0.0001	0.0008837	23	26028	rs531472394	8.073e-05	0.0001	7.216e-05	8.939e-05	0.0003	6.868e-05	6.421e-05	0.0002	0.0002	0	8.946e-05	0	0	0.0010	0	3.148e-05	1.656e-05	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	7.571e-05	6.277e-05	2.846e-05	1.858e-05	0	0	6.538e-05	0	0	0.0010	0	7.349e-05	0	0.0002	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	N	0.000000	0.859262	0.35358	D	-4.285	0.00000	N	2.45	0.15028	T	.	.	.	0.227	0.28965	-0.9254	0.44801	T	0.046	0.19839	T	8	0.023828626	0.00636	T	0.002391	0.04673	T	0.176	0.44373	.	.	0.0482279557977	0.04254	.	.	.	.	0.73387658596	0.72074	T	0.028185	0.20474	T	-0.258591	0.13066	T	-0.609224	0.12048	T	0.293648809194565	0.24741	T	0.427157	0.11500	T	0.0653136	0.13945	0.059462823	0.11164	0.0653136	0.13945	0.059462823	0.11163	3.91	0.00009	T	.	.	0.023	0.00000	B	.;.;.	.;.;.	0.682887	0.10515	7.227	0.1112622970502011	0.00159	0.00999	0.03784	N	AEFI	0.013226	0.00169	N	-1.37608946134671	0.02863	0.1270575	-1.43748171177587	0.02885	0.1335743	8.57984586588986E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	0.046	0.13572	5.152000	0.64727	4.095000	0.41830	-1.443000	0.01102	1.000000	0.71638	0.996000	0.32793	0.094000	0.17991	1.0E-4:0.0:0.6394:0.3606	4.690	0.12160	714	0.56256	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1722.43	99	chr10	50009732	.	T	G	1722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.436;DP=738;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.1;MQRankSum=-8.958;QD=12.13;ReadPosRankSum=-0.933;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1342:.	9	0	1	0
chr10	50009739	50009739	C	G	exonic	AGAP6	.	nonsynonymous SNV	AGAP6:NM_001077665:exon8:c.C1614G:p.D538E,AGAP6:NM_001365867:exon9:c.C1011G:p.D337E	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.000686901389681	.	.	2.538e-05	0	0	0	0	1.54e-05	0	0.0001	.	.	.	rs782383117	2.052e-05	2.873e-05	1.089e-05	3.025e-05	0.0002	1.456e-05	1.264e-05	0.0002	0.0001	0	0	0	0	0	0	8.094e-06	0	0.0002	2.628e-05	2.627e-05	1.285e-05	4.036e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	6.546e-05	0	0	0	0	1.47e-05	0	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000000	0.84330	N	0.052581	0.998656	0.22008	N	-0.005	0.05143	N	1.05	0.39990	T	.	.	.	0.054	0.05670	-1.0187	0.24139	T	0.030	0.12935	T	9	0.03402397	0.01596	T	6.87E-4	0.00418	T	0.117	0.32689	.	.	0.0138822411134	0.00435	.	.	.	.	0.690455198288	0.65772	T	6.89E-4	0.00306	T	-0.548552	0.00298	T	-0.751434	0.03430	T	0.0153577984327113	0.00342	T	0.474753	0.14169	T	0.049306214	0.08734	0.036077473	0.02983	0.049306214	0.08733	0.036077473	0.02983	-3.39	0.14922	T	.	.	0.154	0.34049	B	.;.;.	.;.;.	0.186781	0.05734	2.180	0.3996210126755152	0.02790	0.00660	0.02859	N	AEFI	0.023048	0.01233	N	-1.30366144180767	0.03634	0.1626424	-1.34586284342078	0.03854	0.1806702	1.09784753356016E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	0.046	0.046	0.13572	-0.029000	0.12278	-3.362000	0.02845	0.122000	0.17641	0.048000	0.21332	0.000000	0.08366	0.172000	0.21044	2.0E-4:0.5059:0.4937:2.0E-4	3.650	0.07736	714	0.56256	Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1674.43	99	chr10	50009739	.	C	G	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.808;DP=729;ExcessHet=0;FS=0.671;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.2;MQRankSum=-8.406;QD=12.4;ReadPosRankSum=-1.957;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1342:.	9	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	508.83	35	chr10	50104143	.	G	C	508.83	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.594;DP=606;ExcessHet=2.8389;FS=154.041;InbreedingCoeff=-0.5384;MLEAC=3;MLEAF=0.25;MQ=55.53;MQRankSum=0.493;QD=1.44;ReadPosRankSum=0.834;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:59,0:75:99:0|1:50104141_G_C:176,352,2478:50104141	4	0	2	4
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	564.7	40	chr10	50104144	.	G	A	564.7	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.768;DP=636;ExcessHet=1.5895;FS=154.041;InbreedingCoeff=-0.3296;MLEAC=4;MLEAF=0.222;MQ=55.49;MQRankSum=0.493;QD=2.05;ReadPosRankSum=1.02;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,16:74:99:0|1:50104141_G_C:179,0,2073:50104141	5	0	4	1
chr10	50132857	50132857	G	A	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001330102:exon29:c.G3752A:p.R1251Q,WASHC2A:NM_001291398:exon30:c.G3875A:p.R1292Q,WASHC2A:NM_001005751:exon31:c.G3938A:p.R1313Q	.	551	940	31	0	0	31	0.0162219	.	.	.	2813160	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00279264873764	0.0038	0.000599042	0.0043	0.0010	0.0042	0	0.0036	0.0060	0.0026	0.0028	0.0029819	461	154602	rs200743948	0.0033	0.0034	0.0032	0.0033	0.0121	0.0032	0.0032	0.0094	0.0085	0.0006	0.0021	0.0011	0	0.0031	0.0121	0.0036	0.0037	0.0020	0.0029	0.0031	0.0029	0.0028	0.0040	0.0026	0.0025	0.0034	0.0032	0.0006	0	0.0040	0.0003	0	0.0058	0.0102	0.0038	0.0071	0.0025	0.844	0.03674	T	0.724	0.07037	T	0.055	0.23455	B	0.005	0.11217	B	0.284917	0.14876	N	0.637003	1	0.08975	N	.	.	.	.	.	.	-0.28	0.11547	N	0.065	0.06720	-1.0101	0.26886	T	0.040	0.17106	T	9	0.0024327934	0.00036	T	0.003769	0.08775	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.050815902118571746	0.05023	.	.	0.212326720357	0.00914	T	0.009172	0.08364	T	-0.612009	0.00123	T	-0.650243	0.08937	T	0.00062144657100325	0.00006	T	0.835616	0.50934	T	0.033233922	0.03503	0.035245817	0.02741	0.033233922	0.03502	0.035245817	0.02740	-2.199	0.04060	T	.	.	0.094	0.14614	B	.;.;.;.;.	.;.;.;.;.	1.311533	0.17144	12.99	0.25709633295541157	0.01198	0.02374	0.06752	N	AEFI	0.039162	0.05648	N	-1.16942063521423	0.05468	0.2493362	-1.18235086116027	0.06204	0.297914	1.47346817215427E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.72	-1.64	0.07874	0.404000	0.20722	-0.020000	0.12938	0.484000	0.22197	0.000000	0.06391	0.000000	0.08366	0.976000	0.56436	0.7745:0.0:0.2255:0.0	8.312	0.31238	888	0.27761	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009818	0.017544	0.005988	0.013699	0.000000	0.010204	0.026316	0.000000	0.05	2093.43	73	chr10	50132857	.	G	A	2093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.13;DP=716;ExcessHet=0;FS=0.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.33;MQRankSum=1.65;QD=8.58;ReadPosRankSum=0.229;SOR=0.737	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr10	50196903	50196903	A	C	exonic	ASAH2	.	nonsynonymous SNV	ASAH2:NM_001143974:exon17:c.T1769G:p.L590R,ASAH2:NM_019893:exon18:c.T1874G:p.L625R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.00452053700748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.63226	D	0.062	0.46632	T	0.981	0.70673	D	0.882	0.66367	P	0.000144	0.49130	U	0.083603	0.99791	0.44315	D	.	.	.	0.88	0.46028	T	-3.5	0.68880	D	0.297	0.37301	-0.6106	0.64378	T	0.246	0.61506	T	10	0.34987587	0.51871	T	0.026925	0.49793	D	0.260	0.57221	0.54	0.65161	0.685586197109	0.68289	0.7613202654295284	0.76080	4.31666214769	0.99941	0.521500170231	0.41838	T	0.580063	0.86235	D	-0.084003	0.39062	T	-0.358441	0.38233	T	0.983202278614044	0.74958	D	0.829517	0.49484	T	0.724816	0.79431	0.47614092	0.69645	0.724816	0.79432	0.47614092	0.69646	-4.839	0.36600	T	.	.	0.195	0.44784	B	.;.;.;.	.;.;.;.	4.797996	0.77929	26.8	0.99707277048163434	0.81074	0.93723	0.59007	D	AEFI	0.622676	0.60691	D	0.467319785649239	0.65194	4.791763	0.373515113805877	0.59935	4.175992	0.134370059285585	0.17153	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.17	4.17	0.48303	6.358000	0.72997	11.125000	0.86648	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.449	0.49383	768	0.49510	Neutral/alkaline non-lysosomal ceramidase, C-terminal;Neutral/alkaline non-lysosomal ceramidase, C-terminal;.;Neutral/alkaline non-lysosomal ceramidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1166.43	35	chr10	50196903	.	A	C	1166.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.013;DP=798;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.75;MQRankSum=-4.79;QD=2.41;ReadPosRankSum=-2.621;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1399	9	0	1	0
chr10	50745144	50745144	T	G	exonic	ASAH2B	.	nonsynonymous SNV	ASAH2B:NM_001321958:exon3:c.T14G:p.L5R,ASAH2B:NM_001321959:exon3:c.T14G:p.L5R,ASAH2B:NM_001321960:exon4:c.T14G:p.L5R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.022331524186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	7.242e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.001	0.78490	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.878586	0.81001	D	.	.	.	0.88	0.46028	T	-3.93	0.73267	D	0.309	0.34874	-0.5624	0.66312	T	0.222	0.58588	T	8	0.26419553	0.43905	T	0.022332	0.45207	T	0.189	0.46613	0.326	0.30873	0.19670166235	0.19296	.	.	.	.	.	.	.	.	.	.	-0.101908	0.36107	T	-0.38416	0.35234	T	0.731503274322146	0.42288	D	0.79622	0.43953	T	.	.	.	.	.	.	.	.	-3.879	0.21988	T	.	.	0.316	0.54206	B	.;.	.;.	5.252751	0.88193	29.5	0.99483320659641361	0.67014	0.85915	0.45105	D	AEFI	0.529141	0.55038	D	0.252196022796193	0.53747	3.542327	0.120930673402228	0.45622	2.822028	0.00789116529896613	0.11567	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	2.68	2.68	0.30839	5.639000	0.67541	7.786000	0.68781	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:0.0:1.0	8.854	0.34373	541	0.72942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	74.79	3	chr10	50745144	.	T	G	74.79	.	AC=2;AF=0.111;AN=18;DP=60;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=31.93;QD=27.99;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:.:.:.:.:.:.:.	8	1	0	1
chr10	50814012	50814012	C	T	exonic	A1CF	.	nonsynonymous SNV	A1CF:NM_001370130:exon9:c.G1168A:p.G390S,A1CF:NM_001370131:exon9:c.G1192A:p.G398S,A1CF:NM_014576:exon10:c.G1168A:p.G390S,A1CF:NM_138932:exon10:c.G1192A:p.G398S,A1CF:NM_138933:exon10:c.G1192A:p.G398S,A1CF:NM_001198818:exon11:c.G1168A:p.G390S,A1CF:NM_001198820:exon11:c.G1192A:p.G398S,A1CF:NM_001198819:exon12:c.G1216A:p.G406S	.	436	1080	6	0	0	6	0.00277008	.	.	.	712394	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.184	0.00585951008995	0.0062	0.00299521	0.0053	0.0014	0.0057	0	0.0015	0.0082	0.0099	0.0001	0.0055756	862	154602	rs41274050	0.0079	0.0079	0.0081	0.0077	0.0096	0.0078	0.0078	0.0095	0.0094	0.0011	0.0057	0.0029	5.04e-05	0.0015	0.0017	0.0096	0.0068	0.0004	0.0059	0.0059	0.0063	0.0054	0.0092	0.0056	0.0054	0.0087	0.0084	0.0020	0	0.0090	0.0035	0	0.0013	0.0034	0.0092	0.0090	0	0.087	0.43708	T	0.188	0.35082	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	2.59	0.13434	T	-1.87	0.46673	N	0.554	0.60833	-1.2060	0.00110	T	0.059	0.24649	T	10	0.010407537	0.00232	T	0.00586	0.15251	T	0.184	0.45763	.	.	0.262662153117	0.25859	0.9092499019433491	0.90898	0.367760386718	0.38341	0.719402909279	0.69960	T	0.18271	0.53482	T	-0.23204	0.16379	T	-0.0966904	0.63653	T	0.0335295125840791	0.02559	T	0.842116	0.52631	T	0.28508615	0.51532	0.28800702	0.54814	0.28508615	0.51532	0.28800702	0.54813	-4.566	0.35791	T	.	.	0.132	0.29477	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.819364	0.55138	23.6	0.99904307623406652	0.97502	0.98353	0.81919	D	AEFBI	0.924327	0.90218	D	0.484645836315249	0.66193	4.918595	0.574462375217899	0.73114	5.917886	0.999999268536934	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.615948	0.41167	0	0.530356	0.10902	0	.	.	5.87	5.87	0.94266	5.647000	0.67597	4.853000	0.45395	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.713	0.88234	692	0.58729	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1642.43	34	chr10	50814012	.	C	T	1642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.203;DP=503;ExcessHet=0;FS=0.567;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=-1.36;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	9	0	1	0
chr10	50820634	50820634	A	G	exonic	A1CF	.	nonsynonymous SNV	A1CF:NM_001370130:exon7:c.T785C:p.V262A,A1CF:NM_001370131:exon7:c.T785C:p.V262A,A1CF:NM_014576:exon8:c.T785C:p.V262A,A1CF:NM_138932:exon8:c.T785C:p.V262A,A1CF:NM_138933:exon8:c.T809C:p.V270A,A1CF:NM_001198818:exon9:c.T785C:p.V262A,A1CF:NM_001198820:exon9:c.T809C:p.V270A,A1CF:NM_001198819:exon10:c.T809C:p.V270A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.00760788073721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.53900	D	0.002	0.79402	D	0.86	0.47373	P	0.269	0.39840	B	0.000018	0.62929	D	0.116239	1	0.81001	D	1.115	0.28702	L	2.56	0.13673	T	-3.83	0.72120	D	0.813	0.81559	-0.3220	0.74366	T	0.333	0.70043	T	10	0.81449115	0.80700	D	0.007608	0.20192	T	0.403	0.71636	0.772	0.89846	0.262662153117	0.25859	0.6818375176024806	0.68122	0.351907675512	0.37028	0.807566940784	0.83119	D	0.317187	0.68867	T	0.0417434	0.57274	T	-0.177815	0.56724	T	0.986461043357849	0.77175	D	0.953905	0.82456	D	0.3900563	0.60036	0.39222893	0.63973	0.3900563	0.60036	0.39222893	0.63973	-11.365	0.82000	D	.	.	0.945	0.88969	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.700202	0.75409	26.3	0.99898485359916955	0.97124	0.98994	0.89685	D	AEFBI	0.969630	0.99200	D	0.346871192006311	0.58573	4.030505	0.491047689174012	0.67396	5.078318	0.999537465918807	0.40238	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	5.8	0.92081	8.919000	0.92353	11.090000	0.85912	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.112	0.64655	688	0.59122	.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|ACF, RNA recognition motif 3;.;.;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|ACF, RNA recognition motif 3;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1319.43	36	chr10	50820634	.	A	G	1319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=479;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-0.56;SOR=0.626	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr10	53808927	53808928	TC	-	exonic	PCDH15	.	frameshift deletion	PCDH15:NM_001354411:exon35:c.5116_5117del:p.E1706Kfs*5	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.911e-05	0	0	0	0	5.948e-05	0	0.0001	1.94e-05	3	154602	rs775054636	4.945e-06	5.472e-06	1.397e-06	8.575e-06	8.688e-05	2.06e-06	1.32e-06	4.002e-05	2.814e-05	0	0	0	0	0	0	0	0	8.688e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4443.39	37	chr10	53808926	.	TTC	T	4443.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=564;ExcessHet=0;FS=1.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.49;ReadPosRankSum=0.698;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	9	0	1	0
chr10	53840371	53840371	T	C	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142765:exon27:c.A3719G:p.Y1240C,PCDH15:NM_001142767:exon28:c.A3821G:p.Y1274C,PCDH15:NM_001142768:exon28:c.A3866G:p.Y1289C,PCDH15:NM_001142773:exon28:c.A3866G:p.Y1289C,PCDH15:NM_001142764:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001142766:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001354420:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001354429:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001384140:exon29:c.A3932G:p.Y1311C,PCDH15:NM_033056:exon29:c.A3932G:p.Y1311C,PCDH15:NM_001142763:exon30:c.A3947G:p.Y1316C,PCDH15:NM_001354411:exon30:c.A3953G:p.Y1318C,PCDH15:NM_001354404:exon31:c.A3866G:p.Y1289C	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	956095	not_provided|Usher_syndrome_type_1F	MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.808	0.161201794413	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs752031456	4.788e-06	4.788e-06	6.806e-06	2.75e-06	0.0003	1.99e-06	1.28e-06	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	3.597e-06	0	0	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	1.79	0.46772	L	-0.3	0.71543	T	-7.37	0.94674	D	0.955	0.99481	-0.1249	0.79520	T	0.425	0.76903	T	9	0.93161166	0.92498	D	0.161202	0.84104	D	0.808	0.93777	0.798	0.91802	0.856911317716	0.85552	0.8494526688581524	0.84907	0.239585080843	0.26507	0.821821272373	0.85308	D	0.236722	0.89039	T	0.339158	0.85779	D	0.264886	0.86322	D	0.996407687664032	0.89278	D	0.99971	0.99924	D	0.66499126	0.76165	0.5448127	0.73689	0.66499126	0.76167	0.5448127	0.73689	-12.342	0.86477	D	0.7710656895020218	0.85203	0.916	0.89285	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.037740	0.83830	28.1	0.99842122871046912	0.92229	0.97918	0.78116	D	AEFI	0.969418	0.99181	D	0.678359723495611	0.78214	6.826747	0.697662484879044	0.82202	7.708832	0.998970645978676	0.38110	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	7.902000	0.86082	7.912000	0.74078	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.428	0.74798	963	0.08280	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1165.43	33	chr10	53840371	.	T	C	1165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.044;DP=468;ExcessHet=0;FS=0.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=0.301;SOR=0.621	GT:AD:DP:GQ:PL	0/1:97,58:155:99:1177,0,2284	9	0	1	0
chr10	54213995	54213995	G	A	exonic	PCDH15	.	nonsynonymous SNV	PCDH15:NM_001142767:exon9:c.C928T:p.L310F,PCDH15:NM_001142768:exon9:c.C973T:p.L325F,PCDH15:NM_001142773:exon9:c.C973T:p.L325F,PCDH15:NM_001142764:exon10:c.C1039T:p.L347F,PCDH15:NM_001142765:exon10:c.C1039T:p.L347F,PCDH15:NM_001142766:exon10:c.C1039T:p.L347F,PCDH15:NM_001354411:exon10:c.C1039T:p.L347F,PCDH15:NM_001354420:exon10:c.C1039T:p.L347F,PCDH15:NM_001354429:exon10:c.C1039T:p.L347F,PCDH15:NM_001354430:exon10:c.C1039T:p.L347F,PCDH15:NM_001384140:exon10:c.C1039T:p.L347F,PCDH15:NM_033056:exon10:c.C1039T:p.L347F,PCDH15:NM_001142763:exon11:c.C1054T:p.L352F,PCDH15:NM_001354404:exon12:c.C973T:p.L325F	Deafness, autosomal recessive 23, Autosomal recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive;Usher syndrome, type 1F, Autosomal recessive	3	1495	24	0	0	24	0.00796284	.	.	.	55599	not_specified|Usher_syndrome_type_1|not_provided|Usher_syndrome_type_1F	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011186,MedGen:C1865885,OMIM:602083,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.0477581669201	0.0035	0.00119808	0.0036	0.0006	0.0018	0	0.0009	0.0053	0.0033	0.0028	0.0035575	550	154602	rs111033436	0.0041	0.0041	0.0039	0.0042	0.0050	0.0040	0.0039	0.0042	0.0041	0.0007	0.0020	0.0168	0	0.0010	0.0050	0.0043	0.0045	0.0030	0.0032	0.0032	0.0033	0.0030	0.0046	0.0029	0.0028	0.0042	0.0040	0.0008	0.0110	0.0029	0.0161	0	0.0004	0.0034	0.0046	0.0043	0.0027	0.002	0.72154	D	0.0	0.92824	D	0.997	0.90584	D	0.964	0.88582	D	.	.	.	.	1	0.81001	D	2.615	0.76484	M	0.43	0.56772	T	-2.87	0.62518	D	0.807	0.87481	-0.3166	0.74517	T	0.307	0.67740	T	9	0.0059919655	0.00134	T	0.047758	0.63066	D	0.254	0.56428	.	.	0.705405603352	0.70284	0.6460078611123972	0.64535	0.21467462913	0.24008	0.611727297306	0.54561	T	0.124994	0.82072	T	-0.257932	0.13143	T	-0.140943	0.60036	T	0.0103998413265441	0.00143	T	0.944805	0.79334	D	0.4974293	0.66944	0.3812635	0.63140	0.50377804	0.67317	0.36944348	0.62214	-11.315	0.81932	D	0.6398601033422839	0.71041	0.504	0.74312	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.742781	0.76508	26.5	0.99903023584850525	0.97426	0.94803	0.62383	D	AEFDI	0.849311	0.76613	D	0.798106157721513	0.85986	8.743229	0.752945161623409	0.86377	8.869651	0.499505483150631	0.20930	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.99	4.99	0.65942	7.139000	0.76905	9.765000	0.81528	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.206	0.89790	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like;Cadherin-like|Cadherin-like;.;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.000000	0.006098	0.007576	0.05	911.43	75	chr10	54213995	.	G	A	911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=389;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.04;SOR=0.753	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,980	9	0	1	0
chr10	59654074	59654074	T	C	exonic	SLC16A9	.	nonsynonymous SNV	SLC16A9:NM_001323977:exon5:c.A691G:p.I231V,SLC16A9:NM_001323979:exon5:c.A691G:p.I231V,SLC16A9:NM_001323980:exon5:c.A691G:p.I231V,SLC16A9:NM_194298:exon5:c.A952G:p.I318V,SLC16A9:NM_001323978:exon6:c.A691G:p.I231V,SLC16A9:NM_001323981:exon6:c.A952G:p.I318V	.	.	.	.	.	.	.	.	.	.	.	3328937	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0138056265827	.	0.000399361	1.65e-05	9.696e-05	0	0	0	1.5e-05	0	0	3.23e-05	5	154602	rs199889507	3.01e-05	3.01e-05	3.267e-05	2.75e-05	0.0004	2.282e-05	2.032e-05	0.0003	0.0002	0.0004	6.708e-05	0	0	0	0.0002	1.709e-05	9.935e-05	0	3.282e-05	3.281e-05	1.285e-05	5.369e-05	7.215e-05	1.26e-05	7.97e-06	1.913e-05	1.03e-05	7.215e-05	0	6.533e-05	0	0	0	0	1.47e-05	0	0	0.186	0.21467	T	0.153	0.32144	T	0.003	0.11197	B	0.009	0.14300	B	0.000146	0.49130	N	0.177997	0.95868	0.38088	D	1.745	0.45235	L	0.33	0.58323	T	-0.73	0.20576	N	0.17	0.18103	-1.0153	0.25240	T	0.129	0.43686	T	10	0.06667289	0.09179	T	0.013806	0.33491	T	0.045	0.12272	.	.	0.0934897674506	0.08844	0.3897814462467087	0.38893	0.102388022642	0.11590	0.313021600246	0.12364	T	0.049933	0.28448	T	-0.202064	0.20507	T	-0.445162	0.28232	T	0.0307726824658524	0.02110	T	0.677732	0.28664	T	0.07399528	0.16573	0.10295429	0.24689	0.07399528	0.16573	0.10295429	0.24689	-4.909	0.35836	T	.	.	0.071	0.04041	B	.;.	.;.	1.425728	0.18429	13.73	0.76815777827017107	0.11620	0.82055	0.41343	D	AEFDGBHCI	0.437467	0.49726	N	-0.561303367834277	0.20130	1.05897	-0.421557480643705	0.24365	1.333862	0.999381125999493	0.39415	0.706298	0.61202	0	0.541556	0.11502	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.92	2.56	0.29842	1.404000	0.34232	1.926000	0.29741	-0.163000	0.11536	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.1503:0.0:0.8497	9.221	0.36539	957	0.09725	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1480.43	36	chr10	59654074	.	T	C	1480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.865;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=3.06;SOR=0.635	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	9	0	1	0
chr10	60871549	60871549	A	G	exonic	RHOBTB1	.	nonsynonymous SNV	RHOBTB1:NM_001350910:exon10:c.T1664C:p.I555T,RHOBTB1:NM_001350904:exon11:c.T2024C:p.I675T,RHOBTB1:NM_001350905:exon11:c.T2024C:p.I675T,RHOBTB1:NM_014836:exon11:c.T2024C:p.I675T,RHOBTB1:NM_001242359:exon12:c.T2024C:p.I675T,RHOBTB1:NM_001350902:exon12:c.T2024C:p.I675T,RHOBTB1:NM_001350903:exon12:c.T2024C:p.I675T,RHOBTB1:NM_001350908:exon12:c.T1664C:p.I555T,RHOBTB1:NM_001350909:exon12:c.T1664C:p.I555T,RHOBTB1:NM_001350911:exon12:c.T1664C:p.I555T,RHOBTB1:NM_001350906:exon13:c.T1664C:p.I555T,RHOBTB1:NM_001350907:exon13:c.T1664C:p.I555T	.	395	1125	2	0	0	2	0.000888099	.	.	.	3586554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00342866109926	7.7e-05	.	4.12e-05	0	8.648e-05	0	0	5.995e-05	0	0	3.23e-05	5	154602	rs374936128	3.284e-05	3.283e-05	2.314e-05	4.263e-05	0.0014	2.543e-05	2.249e-05	0.0007	0.0005	5.974e-05	0.0001	0	0	0	0.0014	1.709e-05	3.312e-05	0.0001	2.63e-05	2.627e-05	2.57e-05	2.693e-05	0.0004	8.15e-06	5.14e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0004	0.378	0.11262	T	0.373	0.16328	T	0.019	0.17989	B	0.028	0.21332	B	0.015932	0.28113	N	0.300467	0.993261	0.23743	N	0.69	0.16971	N	2.5	0.14408	T	-0.14	0.09135	N	0.073	0.04668	-0.9681	0.37592	T	0.015	0.05946	T	10	0.04912463	0.04458	T	0.003429	0.07725	T	0.061	0.17616	.	.	0.419335720491	0.41547	0.2191917102338589	0.21835	0.248197981235	0.27377	0.500613152981	0.38914	T	0.044845	0.26939	T	-0.368264	0.03683	T	-0.564108	0.15992	T	0.0404205300215372	0.03767	T	0.612239	0.23293	T	0.043615393	0.06828	0.05317436	0.08904	0.043615393	0.06828	0.05317436	0.08904	-3.226	0.12800	T	.	.	0.068	0.02861	B	.;.	.;.	2.591147	0.33614	19.39	0.94684786496973861	0.25322	0.89687	0.50312	D	AEBI	0.422839	0.48867	N	-0.374351580168028	0.26387	1.439662	-0.119504013607144	0.34604	1.992391	0.999999033261375	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.662677	0.59975	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	3.962000	0.56473	5.438000	0.48612	0.684000	0.82519	0.995000	0.38783	0.906000	0.28050	0.999000	0.91618	0.8539:0.0:0.0:0.1461	10.388	0.43335	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1003.43	36	chr10	60871549	.	A	G	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.156;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.842;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr10	61662996	61662996	-	GGGCAGACCCCGGCA	exonic	CABCOCO1	.	nonframeshift insertion	CABCOCO1:NM_001366906:exon1:c.24_25insGGGCAGACCCCGGCA:p.G9_P10insQTPAG,CABCOCO1:NM_001366907:exon1:c.24_25insGGGCAGACCCCGGCA:p.G9_P10insQTPAG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.021e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	938.61	8	chr10	61662996	.	G	GGGGCAGACCCCGGCA	938.61	.	AC=2;AF=0.167;AN=12;DP=28;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=28.07;SOR=1.23	GT:AD:DP:GQ:PL	./.:.,.:.:.:.	5	1	0	4
chr10	62091817	62091817	G	A	exonic	ARID5B	.	nonsynonymous SNV	ARID5B:NM_001244638:exon7:c.G1625A:p.R542H,ARID5B:NM_032199:exon10:c.G2354A:p.R785H	.	431	1090	1	0	0	1	0.000458505	.	.	.	3290075	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.192	0.0147532612629	0.0002	.	5.794e-05	9.722e-05	0	0	0	9.037e-05	0	0	5.17e-05	8	154602	rs369904878	4.036e-05	4.036e-05	4.356e-05	3.713e-05	6.709e-05	3.179e-05	2.91e-05	3.717e-05	3.371e-05	2.987e-05	6.709e-05	0	2.519e-05	0	0	4.766e-05	0	1.159e-05	5.918e-05	5.911e-05	2.571e-05	9.421e-05	9.661e-05	3.079e-05	2.212e-05	3.251e-05	1.916e-05	9.661e-05	0	0	0	0	0	0	7.353e-05	0	0	0.019	0.51248	D	0.042	0.50226	D	1.0	0.90584	D	0.869	0.61749	P	0.001299	0.39521	N	0.291907	0.982138	0.39856	D	1.7	0.43825	L	0.79	0.49358	T	-0.14	0.10308	N	0.351	0.53708	-0.6493	0.62745	T	0.261	0.63197	T	10	0.22848451	0.39754	T	0.014753	0.35069	T	0.192	0.47115	.	.	0.52517700028	0.52164	0.19675383391796425	0.19592	1.1501580295	0.79175	0.381748616695	0.22505	T	0.105637	0.41628	T	-0.166442	0.25775	T	-0.285176	0.46272	T	0.284593254327774	0.24364	T	0.931907	0.74605	D	0.06534633	0.13955	0.048889853	0.07357	0.06534633	0.13954	0.048889853	0.07357	-2.135	0.04452	T	.	.	0.083	0.09239	B	.;.	.;.	4.062587	0.60295	24.2	0.99936081608605309	0.99621	0.92865	0.56736	D	AEFDBCI	0.599065	0.59222	D	0.713047308910999	0.80486	7.305178	0.729558892147269	0.84622	8.343805	0.999999996014154	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	5.034000	0.63942	10.028000	0.83159	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	20.203	0.98271	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1726.43	40	chr10	62091817	.	G	A	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=511;ExcessHet=0;FS=4.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.72;SOR=0.45	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1234	9	0	1	0
chr10	63168077	63168077	C	T	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon24:c.G6934A:p.E2312K,JMJD1C:NM_001282948:exon25:c.G7045A:p.E2349K,JMJD1C:NM_001318153:exon25:c.G6727A:p.E2243K,JMJD1C:NM_001322252:exon25:c.G7477A:p.E2493K,JMJD1C:NM_001322258:exon25:c.G6934A:p.E2312K,JMJD1C:NM_001318154:exon26:c.G7045A:p.E2349K,JMJD1C:NM_032776:exon26:c.G7591A:p.E2531K	.	433	1078	10	1	0	12	0.00553506	.	.	.	460100	JMJD1C-related_disorder|not_provided|Early_myoclonic_encephalopathy	.|MedGen:C3661900|MedGen:C0270855	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.165	.	0.0074	0.00199681	0.0041	0.0013	0.0023	0	0.0017	0.0060	0.0022	0.0027	0.0044372	686	154602	rs71508957	0.0072	0.0073	0.0074	0.0070	0.0086	0.0071	0.0070	0.0085	0.0084	0.0013	0.0025	0.0011	0	0.0015	0.0042	0.0086	0.0069	0.0029	0.0047	0.0047	0.0052	0.0042	0.0082	0.0044	0.0043	0.0077	0.0074	0.0015	0	0.0033	0.0014	0	0.0007	0.0034	0.0082	0.0057	0.0033	0.044	0.41096	D	0.042	0.52389	D	0.997	0.70673	D	0.726	0.55126	P	0.000055	0.53742	D	0.128349	0.993969	0.81001	D	1.355	0.33814	L	-0.28	0.67543	T	-2.52	0.54702	D	0.627	0.64137	-0.4908	0.68980	T	0.243	0.61177	T	10	0.004607469	0.00096	T	.	.	.	0.165	0.42395	.	.	0.645501326148	0.64257	0.2206170398428802	0.21976	2.02551538596	0.94040	0.588886797428	0.51336	T	0.034368	0.23294	T	-0.299995	0.08660	T	-0.196733	0.54955	T	0.0177050525326067	0.00501	T	0.937806	0.76632	D	0.3044758	0.53303	0.21059988	0.45453	0.3044758	0.53303	0.21059988	0.45452	-2.187	0.03978	T	0.6205991717567377	0.68894	0.093	0.30842	B	.;.;.	.;.;.	3.995628	0.58836	24.0	0.99889614105615565	0.96436	0.93086	0.57292	D	AEFGBI	0.355040	0.44691	N	0.305126537928277	0.56411	3.805805	0.395343346201891	0.61278	4.325628	0.999889927259242	0.44867	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.741806	0.99463	0	.	.	5.42	5.42	0.78666	2.640000	0.46245	7.673000	0.64890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	19.212	0.93746	558	0.71484	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.1	2290.12	34	chr10	63168077	.	C	T	2290.12	.	AC=2;AF=0.1;AN=20;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.27;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2313,242,0	9	1	0	0
chr10	63193436	63193436	C	T	exonic	JMJD1C	.	nonsynonymous SNV	JMJD1C:NM_001322254:exon13:c.G5114A:p.R1705K,JMJD1C:NM_001282948:exon14:c.G5225A:p.R1742K,JMJD1C:NM_001318153:exon14:c.G4907A:p.R1636K,JMJD1C:NM_001322252:exon14:c.G5657A:p.R1886K,JMJD1C:NM_001322258:exon14:c.G5114A:p.R1705K,JMJD1C:NM_001318154:exon15:c.G5225A:p.R1742K,JMJD1C:NM_032776:exon15:c.G5771A:p.R1924K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0103519465959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.164	0.33109	T	0.925	0.51395	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999922	0.81001	D	1.725	0.44537	L	0.56	0.54540	T	-2.57	0.55501	D	0.356	0.39760	-0.4464	0.70519	T	0.332	0.69935	T	10	0.8936583	0.88715	D	0.010352	0.26785	T	0.249	0.55752	0.84	0.94602	0.637017390676	0.63403	0.7928774722484048	0.79240	0.157621600058	0.17795	0.536825060844	0.43998	T	0.369895	0.73453	T	0.0292193	0.55619	T	-0.195805	0.55043	T	0.928609490394592	0.59215	D	0.849815	0.53298	T	0.5190003	0.68202	0.3568274	0.61187	0.5190003	0.68203	0.3568274	0.61187	-8.458	0.64151	D	0.4325882270323829	0.51947	0.294	0.54926	B	.;.;.	.;.;.	3.767638	0.54096	23.4	0.99658260750988326	0.77757	0.97954	0.78397	D	AEFBI	0.316037	0.42044	N	0.587792555338336	0.72411	5.801647	0.602663240004817	0.75131	6.256968	0.99996447195834	0.48965	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	3.948000	0.56369	5.965000	0.51894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	19.134	0.93405	594	0.68584	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	889.43	37	chr10	63193436	.	C	T	889.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.37;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-1.223;SOR=0.621	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr10	67932719	67932719	C	T	exonic	HERC4	.	nonsynonymous SNV	HERC4:NM_001278186:exon21:c.G1951A:p.D651N,HERC4:NM_001278185:exon22:c.G2506A:p.D836N,HERC4:NM_015601:exon23:c.G2716A:p.D906N,HERC4:NM_022079:exon24:c.G2740A:p.D914N	.	438	1071	13	0	0	13	0.00603248	.	.	.	2813212	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.0103922967129	0.0022	0.00179712	0.0023	0.0002	0.0015	0	0.0038	0.0028	0.0022	0.0030	0.0022315	345	154602	rs143083420	0.0020	0.0020	0.0019	0.0021	0.0094	0.0019	0.0019	0.0074	0.0067	0.0009	0.0018	0.0018	0	0.0036	0.0094	0.0019	0.0024	0.0031	0.0023	0.0023	0.0022	0.0024	0.0033	0.0021	0.0020	0.0026	0.0024	0.0004	0	0.0033	0.0014	0.0002	0.0056	0.0068	0.0029	0.0038	0.0027	0.51	0.09022	T	0.406	0.14725	T	0.002	0.28337	B	0.007	0.26602	B	0.000415	0.44736	D	0.247346	1	0.81001	D	0.455	0.12820	N	0.99	0.41750	T	-0.5	0.19720	N	0.255	0.33578	-1.0692	0.09590	T	0.037	0.16029	T	10	0.009596795	0.00216	T	0.010392	0.26871	T	0.023	0.04649	.	.	0.355939216326	0.35206	0.46415274412787255	0.46334	0.757234347929	0.64067	0.597243189812	0.52516	T	0.103046	0.41134	T	-0.535133	0.00358	T	-0.544822	0.17825	T	0.00887822571060076	0.00110	T	0.928707	0.73951	D	0.059079804	0.11963	0.044510372	0.05784	0.059079804	0.11962	0.044510372	0.05784	-4.208	0.46003	T	.	.	0.072	0.32804	B	.;.;.;.	.;.;.;.	3.634816	0.51511	23.1	0.9927475862470031	0.57696	0.89966	0.50785	D	AEFBI	0.253322	0.37284	N	-0.204332749030752	0.32955	1.864328	0.0277336971184661	0.41008	2.456526	0.577088679724747	0.21540	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	2.430000	0.44424	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8342:0.0:0.1658	9.464	0.37965	899	0.25060	.;.;HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.008152	0.002924	0.000000	0.017241	0.012195	0.003788	0.05	739.43	34	chr10	67932719	.	C	T	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.322;DP=399;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.73;ReadPosRankSum=-0.786;SOR=1.004	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1114	9	0	1	0
chr10	68644932	68644932	A	G	exonic	TET1	.	nonsynonymous SNV	TET1:NM_030625:exon4:c.A2203G:p.K735E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0061485135252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1418521511	2.055e-06	2.052e-06	1.363e-06	2.755e-06	.	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	4.977e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.712	0.05488	T	0.666	0.41077	P	0.115	0.31843	B	0.457346	0.12434	N	0.761165	0.993776	0.23650	N	2.015	0.55033	M	3.21	0.07125	T	-0.73	0.20576	N	0.22	0.24634	-0.9891	0.32828	T	0.015	0.06042	T	10	0.08990869	0.15617	T	0.006149	0.16111	T	0.047	0.12962	0.165	0.06955	0.043077524339	0.03247	0.1005632408179631	0.09987	0.104334685682	0.11803	0.288307011127	0.08676	T	0.06778	0.33288	T	-0.22481	0.17341	T	-0.560701	0.16311	T	0.279981583759351	0.24171	T	0.683732	0.29211	T	0.117316924	0.27659	0.12035576	0.29047	0.117316924	0.27659	0.12035576	0.29046	-3.726	0.19703	T	.	.	0.121	0.25100	B	.	.	2.091889	0.26608	17.18	0.9971201475374849	0.81423	0.95558	0.65200	D	AEFBI	0.213432	0.33902	N	-0.037072856363829	0.40182	2.381955	0.0936287730590797	0.44228	2.708578	0.0436077642515675	0.14577	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.93	4.79	0.60909	2.138000	0.41764	6.112000	0.53677	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.704:0.296:0.0:0.0	11.861	0.51742	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1406.43	33	chr10	68644932	.	A	G	1406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.578;DP=460;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.777;SOR=0.849	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1107	9	0	1	0
chr10	69239079	69239079	G	A	exonic	HKDC1	.	nonsynonymous SNV	HKDC1:NM_025130:exon5:c.G533A:p.R178Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	3437461	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.356	0.11148151871	.	.	1.668e-05	0	0	0	0	3.02e-05	0	0	1.94e-05	3	154602	rs774349922	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.238e-05	1.052e-05	1.295e-05	1.106e-05	2.988e-05	0	0	0	0	0.0002	1.979e-05	3.313e-05	0	3.943e-05	3.94e-05	6.424e-05	1.345e-05	8.817e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.817e-05	0	0	0.004	0.65419	D	0.008	0.67890	D	0.011	0.15914	B	0.01	0.14941	B	0.000004	0.62929	D	0.060279	0.999987	0.18612	N	1.54	0.38927	L	-5.28	0.98949	D	-0.24	0.10833	N	0.225	0.25253	0.431	0.89560	D	0.885	0.96182	D	10	0.27611747	0.45172	T	0.111482	0.78928	D	0.356	0.67691	.	.	0.889291552233	0.88820	0.6107799162021537	0.61009	0.434351109688	0.43575	0.29500156641	0.09658	T	0.261889	0.63341	T	-0.0198029	0.48883	T	-0.084694	0.64559	T	0.730821013450623	0.42252	D	0.918808	0.70803	D	0.49170786	0.66604	0.35155857	0.60748	0.49170786	0.66605	0.35155857	0.60747	-5.175	0.38687	T	0.2120780879925731	0.28449	0.116	0.23360	B	.	.	3.699865	0.52758	23.3	0.99840806751727307	0.92143	0.87585	0.47173	D	AEFBI	0.587865	0.58535	D	-0.274979904005011	0.30118	1.676399	-0.181916697441266	0.32201	1.829682	0.999998842771445	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.92	4.92	0.64147	4.716000	0.61607	.	.	0.676000	0.76740	0.902000	0.31475	1.000000	0.68203	0.218000	0.22407	0.0:0.0:1.0:0.0	18.675	0.91486	758	0.50837	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	816.43	40	chr10	69239079	.	G	A	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=417;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.655;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1269	9	0	1	0
chr10	69250430	69250432	GAG	-	exonic	HKDC1	.	nonframeshift deletion	HKDC1:NM_025130:exon11:c.1711_1713del:p.E572del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207145637	3.423e-06	3.42e-06	1.362e-06	5.506e-06	0.0003	1e-06	7.3e-07	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	0	1.657e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1638.39	108	chr10	69250429	.	TGAG	T	1638.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=473;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.176;SOR=0.651	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr10	69902853	69902853	C	T	exonic	COL13A1	.	nonsynonymous SNV	COL13A1:NM_001368896:exon11:c.C715T:p.P239S,COL13A1:NM_001368898:exon11:c.C715T:p.P239S,COL13A1:NM_080798:exon11:c.C715T:p.P239S,COL13A1:NM_001368895:exon12:c.C766T:p.P256S,COL13A1:NM_001368897:exon12:c.C742T:p.P248S,COL13A1:NM_080805:exon12:c.C733T:p.P245S,COL13A1:NM_001368883:exon14:c.C820T:p.P274S,COL13A1:NM_001368885:exon14:c.C820T:p.P274S,COL13A1:NM_001368886:exon14:c.C256T:p.P86S,COL13A1:NM_080800:exon14:c.C829T:p.P277S,COL13A1:NM_080801:exon14:c.C820T:p.P274S,COL13A1:NM_080802:exon14:c.C820T:p.P274S,COL13A1:NM_001130103:exon15:c.C886T:p.P296S,COL13A1:NM_001320951:exon15:c.C856T:p.P286S,COL13A1:NM_001368882:exon15:c.C856T:p.P286S,COL13A1:NM_001368884:exon15:c.C856T:p.P286S	Myasthenic syndrome, congenital, 19, Autosomal recessive	410	1109	3	0	0	3	0.00135074	0.6511	0.512	.	1354379	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.581	0.17108564087	.	0.000599042	0.0003	0	0.0085	0	0	0.0003	0	0	0.0001488	23	154602	rs184176702	9.764e-05	9.645e-05	8.021e-05	0.0001	0.0005	8.404e-05	7.845e-05	0.0003	0.0002	0	0.0005	0.0017	0	0	0	4.511e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.23e-05	0.0002	0.0002	0	0	0.0005	0.0026	0	0	0.0034	8.818e-05	0.0005	0	0.049	0.50676	D	0.023	0.66756	D	0.992	0.73220	D	0.88	0.82059	P	0.000000	0.84330	D	0.000000	0.999617	0.47849	D	1.685	0.43254	L	-4.2	0.96934	D	-2.69	0.63438	D	0.287	0.33687	0.882	0.95432	D	0.901	0.96705	D	10	0.022779047	0.00578	T	0.171086	0.84846	D	0.581	0.83137	.	.	0.888760345717	0.88766	0.43054967111602366	0.42971	0.139645380596	0.15743	0.568360745907	0.48446	T	0.770588	0.93856	D	-0.0189625	0.49002	T	0.0311775	0.72355	D	0.148122345456719	0.16953	T	0.747925	0.42806	T	0.19840366	0.41742	0.20575887	0.44759	0.19840366	0.41741	0.20575887	0.44758	-9.69	0.73437	D	.	.	0.110	0.24226	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.546154	0.49826	22.8	0.99239951645861224	0.56501	0.82209	0.41472	D	AEFDBI	0.474337	0.51864	N	0.549484730053674	0.70051	5.445034	0.516976025031981	0.69130	5.31694	0.999999877350873	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.93	5.93	0.95888	2.081000	0.41220	.	.	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.082000	0.17360	0.0:0.8698:0.1302:0.0	16.560	0.84386	769	0.49307	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	499.43	37	chr10	69902853	.	C	T	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.98;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.34;SOR=0.709	GT:AD:DP:GQ:PL	0/0:32,0:32:84:0,84,1260	9	0	1	0
chr10	70255429	70255429	A	G	exonic	NPFFR1	.	nonsynonymous SNV	NPFFR1:NM_022146:exon4:c.T821C:p.M274T	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.059454184215	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs772783728	1.721e-05	1.71e-05	1.557e-05	1.889e-05	1.854e-05	1.164e-05	9.78e-06	1.211e-05	9.84e-06	0	0	0	0	4.455e-05	0	1.854e-05	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.10311	T	0.298	0.20486	T	0.383	0.34425	B	0.079	0.28749	B	0.045362	0.23544	N	0.477077	0.974515	0.39111	D	0.025	0.08010	N	1.27	0.36146	T	-2.21	0.49684	N	0.21	0.23380	-1.0503	0.14313	T	0.034	0.14509	T	10	0.21100053	0.37514	T	0.059454	0.67669	D	0.099	0.28413	0.674	0.81200	0.657652052346	0.65479	0.6171997521323965	0.61651	1.29084444444	0.82783	0.845410585403	0.88920	D	0.020082	0.15875	T	-0.272608	0.11467	T	-0.514405	0.20862	T	0.147578567266464	0.16910	T	0.667933	0.27701	T	0.19320834	0.41021	0.16491699	0.38179	0.19320834	0.41021	0.16491699	0.38178	-3.004	0.10224	T	.	.	0.106	0.19598	B	.	.	2.267755	0.28984	17.98	0.82825914995901062	0.14395	0.94493	0.61343	D	AEFDBHCIJ	0.508173	0.53817	D	-0.223037467558538	0.32188	1.812734	-0.0354883504933418	0.38123	2.241708	0.9999999737848	0.74766	0.648878	0.45929	0	0.616487	0.53143	0	0.596394	0.31383	0	0.526665	0.08891	0	.	.	4.86	3.71	0.41733	4.967000	0.63433	2.676000	0.33982	0.756000	0.94297	0.997000	0.40164	0.211000	0.23643	0.954000	0.50415	0.9148:0.0:0.0852:0.0	9.741	0.39587	419	0.81524	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2149.43	33	chr10	70255429	.	A	G	2149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.88;DP=577;ExcessHet=0;FS=4.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.9;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1039	9	0	1	0
chr10	70266179	70266179	T	C	exonic	NPFFR1	.	nonsynonymous SNV	NPFFR1:NM_022146:exon2:c.A220G:p.M74V	.	.	.	.	.	.	.	.	.	.	.	4028464	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.642	0.131797157061	.	.	1.657e-05	0	0	0	0	0	0.0011	6.057e-05	1.29e-05	2	154602	rs753490342	4.105e-06	4.104e-06	2.723e-06	5.501e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.995	0.85803	M	1.16	0.38073	T	-3.48	0.67941	D	0.896	0.89577	-0.3235	0.74324	T	0.286	0.65773	T	10	0.9594712	0.95339	D	0.131797	0.81407	D	0.642	0.86384	0.828	0.93851	0.823129003882	0.82145	0.9201962218175436	0.91995	0.462265004713	0.45762	0.489400327206	0.37355	T	0.107293	0.41938	T	-0.0073004	0.50642	T	0.0114161	0.71074	D	0.9383624792099	0.60892	D	0.818618	0.47570	T	0.9440528	0.95661	0.96208537	0.99083	0.9440528	0.95661	0.96208537	0.99083	-14.323	0.94059	D	.	.	0.574	0.67819	P	.	.	4.166870	0.62622	24.5	0.99280079479293515	0.57869	0.97589	0.75744	D	AEFDGBI	0.917681	0.88565	D	0.748055026398018	0.82779	7.847458	0.650161282544892	0.78624	6.913548	0.999999999996864	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.05	5.05	0.67566	7.990000	0.87862	4.074000	0.41688	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.0:0.0:1.0	13.609	0.61536	434	0.80536	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1640.43	34	chr10	70266179	.	T	C	1640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.857;DP=480;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=-0.441;SOR=0.645	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1272	9	0	1	0
chr10	70435896	70435896	C	T	exonic	NODAL	.	nonsynonymous SNV	NODAL:NM_018055:exon2:c.G281A:p.R94Q	Heterotaxy, visceral, 5, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	322578	Holoprosencephaly_sequence|not_provided|NODAL-related_disorder|Heterotaxy,_visceral,_5,_autosomal	Human_Phenotype_Ontology:HP:0001360,Human_Phenotype_Ontology:HP:0009807,MONDO:MONDO:0016296,MedGen:C0079541,OMIM:PS236100,Orphanet:2162|MedGen:C3661900|MedGen:CN239298|MONDO:MONDO:0700112,MedGen:C3495537,OMIM:270100,Orphanet:450	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.552	0.0427670936147	7.7e-05	.	0.0002	9.831e-05	0	0	0	0.0002	0.0022	0.0007	0.0001746	27	154602	rs146018217	0.0001	0.0001	8.576e-05	0.0002	0.0012	0.0001	0.0001	0.0008	0.0008	8.961e-05	4.472e-05	7.652e-05	0	0	0.0012	6.385e-05	0.0003	0.0010	8.536e-05	8.531e-05	7.708e-05	9.402e-05	0.0006	4.954e-05	3.96e-05	0.0002	9e-05	9.623e-05	0	6.535e-05	0	0	0	0	7.351e-05	0	0.0006	0.032	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.766	0.56676	P	0.000000	0.84330	D	0.000000	0.991713	0.41456	D	2.295	0.65404	M	-0.75	0.73311	T	-3.12	0.63782	D	0.714	0.71676	0.019	0.82627	D	0.486	0.80421	T	10	0.3004281	0.47590	T	0.042767	0.60635	D	0.552	0.81485	.	.	0.814056549599	0.81230	0.6621781402840408	0.66154	1.1300589259	0.78586	0.451749324799	0.32182	T	0.859461	0.96869	D	-0.0584999	0.43141	T	0.0614091	0.74338	D	0.480959892272949	0.31932	T	0.756024	0.37907	T	0.31654987	0.54347	0.23613045	0.48875	0.31654987	0.54347	0.23613045	0.48874	-4.346	0.28816	T	0.4259781357468628	0.51394	0.147	0.32396	B	.;.	.;.	4.982890	0.82549	27.8	0.99958989719086966	0.99990	0.83571	0.42679	D	AEFDBI	0.374939	0.45966	N	0.721578434132989	0.81047	7.431669	0.710230283775999	0.83157	7.948176	0.999999989859341	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.46	5.46	0.80021	5.194000	0.64964	5.925000	0.51226	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.9187:0.0:0.0813	11.624	0.50394	476	0.77720	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1625.43	34	chr10	70435896	.	C	T	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=508;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=0.796;SOR=0.706	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr10	70539176	70539176	G	A	exonic	PALD1	.	nonsynonymous SNV	PALD1:NM_014431:exon14:c.G1654A:p.V552M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0408433486394	0.0021	0.00159744	0.0006	0.0063	0.0002	0.0005	0	6.842e-05	0	0	0.0004916	76	154602	rs115220270	0.0003	0.0003	0.0003	0.0003	0.0064	0.0003	0.0003	0.0057	0.0054	0.0064	0.0003	0	0.0003	0	0.0002	0.0002	0.0005	2.323e-05	0.0018	0.0018	0.0019	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0064	0	0.0003	0	0.0002	0	0	7.35e-05	0	0.0002	0.028	0.46129	D	0.004	0.74150	D	0.988	0.62325	D	0.551	0.49270	P	0.000531	0.43581	D	0.201097	0.999633	0.47961	D	2.6	0.76081	M	1.34	0.34841	T	-2.27	0.50666	N	0.466	0.50237	-0.8217	0.53827	T	0.112	0.40052	T	10	0.010147005	0.00227	T	0.040843	0.59602	D	0.223	0.52023	.	.	0.499535901811	0.49588	0.7828160239646846	0.78232	0.473943724197	0.46597	0.652560949326	0.60350	T	0.177406	0.52769	T	-0.374605	0.03367	T	-0.306725	0.44009	T	0.0814520629611187	0.10172	T	0.856214	0.54490	D	0.08993892	0.21030	0.14013094	0.33412	0.08993892	0.21029	0.14013094	0.33411	-7.275	0.56017	T	.	.	0.222	0.45273	B	.	.	3.725032	0.53253	23.3	0.99727860007408908	0.82549	0.96084	0.67460	D	AEFDBI	0.593070	0.58853	D	0.355680717956027	0.59040	4.080311	0.24077454128491	0.52128	3.389616	0.999999591916593	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.52	3.61	0.40494	7.466000	0.79932	5.760000	0.49678	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.092:0.0:0.908:0.0	10.669	0.44942	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000507	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1172.43	41	chr10	70539176	.	G	A	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=444;ExcessHet=0;FS=4.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.633;SOR=1.21	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr10	70541512	70541512	A	G	exonic	PALD1	.	nonsynonymous SNV	PALD1:NM_014431:exon17:c.A2099G:p.K700R	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0100	0.00758786	0.0026	0.0281	0.0013	0	0	4.759e-05	0.0024	0	0.0023027	356	154602	rs79311679	0.0008	0.0008	0.0009	0.0007	0.0292	0.0008	0.0008	0.0276	0.0270	0.0292	0.0016	0	2.519e-05	0	0.0010	2.608e-05	0.0016	4.642e-05	0.0078	0.0079	0.0082	0.0075	0.0275	0.0075	0.0073	0.0262	0.0256	0.0275	0	0.0022	0	0	0	0.0034	0.0001	0.0043	0.0002	0.043	0.41364	D	0.045	0.49390	D	0.025	0.19245	B	0.053	0.25678	B	0.000249	0.46924	U	0.181068	0.995109	0.81001	D	1.93	0.51437	L	1.85	0.24472	T	-1.42	0.34992	N	0.3	0.33904	-1.1052	0.03517	T	0.021	0.08917	T	10	0.007730514	0.00176	T	.	.	.	0.087	0.25287	.	.	0.589222994759	0.58597	0.448258477799977	0.44743	0.170867716227	0.19251	0.653899729252	0.60540	T	0.031172	0.21919	T	-0.547109	0.00304	T	-0.537031	0.18589	T	0.0677833076280445	0.08337	T	0.824917	0.48720	T	0.056057766	0.10978	0.12860657	0.30939	0.056057766	0.10977	0.12860657	0.30938	-5.534	0.42185	T	.	.	0.100	0.17189	B	.	.	3.382024	0.46789	22.4	0.99674456143744861	0.78846	0.97539	0.75410	D	AEFDBI	0.731744	0.67872	D	-0.210197180608701	0.32715	1.848004	-0.148866316991892	0.33451	1.913674	0.999998879485303	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.62	2.49	0.29274	7.035000	0.76245	6.942000	0.56995	0.715000	0.85334	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.902:0.0:0.098:0.0	8.282	0.31068	388	0.83355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	532.43	33	chr10	70541512	.	A	G	532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=1.84;SOR=0.826	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1090	9	0	1	0
chr10	70741033	70741033	C	T	exonic	ADAMTS14	.	stopgain	ADAMTS14:NM_080722:exon12:c.C1795T:p.Q599X,ADAMTS14:NM_139155:exon12:c.C1804T:p.Q602X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.423	0.47022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.155990	0.99604	45	0.9985909356108672	0.93729	0.93611	0.58692	D	AEFDGBCI	0.319667	0.42300	N	1.09448671934669	0.98031	17.27298	0.959229455960573	0.97672	16.54342	0.999999999999997	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.568000	0.81546	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.691	0.91542	336	0.86165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1398.43	74	chr10	70741033	.	C	T	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.816;DP=856;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.906;SOR=0.725	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	9	0	1	0
chr10	71285401	71285401	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon4:c.G524A:p.R175H,UNC5B:NM_170744:exon4:c.G524A:p.R175H	.	433	1088	1	0	0	1	0.000459348	.	.	.	3345027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.444	0.0256822170611	0.0007	.	0.0005	0	0	0	0	0.0010	0	0	0.0003363	52	154602	rs138539665	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	8.977e-05	0.0002	0.0014	5.076e-05	0	0.0003	0.0003	0.0004	0	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0002	0.0003	0.0003	2.412e-05	0	6.542e-05	0.0017	0	0	0	0.0004	0	0	0.029	0.45756	D	0.103	0.38450	T	0.996	0.68779	D	0.839	0.60107	P	0.000003	0.62929	D	0.107459	1	0.81001	D	1.75	0.45442	L	-0.28	0.67543	T	-3.6	0.69357	D	0.784	0.78072	-0.2600	0.76088	T	0.371	0.73008	T	10	0.41216046	0.56298	T	0.025682	0.48637	D	0.444	0.74657	.	.	0.886985081077	0.88587	0.5465969804583237	0.54585	0.648183044756	0.58173	0.697296738625	0.66753	T	0.408721	0.76397	T	-0.0894567	0.38166	T	-0.0403336	0.67679	D	0.455139070749283	0.30986	T	0.976902	0.91973	D	0.29057732	0.52046	0.18979475	0.42346	0.29057732	0.52046	0.18979475	0.42345	-7.241	0.56160	T	.	.	0.132	0.28492	B	.;.	.;.	5.583511	0.92323	32	0.99954946071032791	0.99969	0.95953	0.66872	D	AEFDGBHCI	0.917334	0.88479	D	0.693392479555524	0.79197	7.027627	0.696735650105581	0.82131	7.691595	1.0	0.98316	0.631981	0.41245	0	0.600433	0.49495	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.84	4.84	0.62125	9.999000	0.99362	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0:0.0:1.0:0.0	17.957	0.88992	884	0.28482	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1427.43	42	chr10	71285401	.	G	A	1427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.357;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.647;SOR=0.732	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1387	9	0	1	0
chr10	71675134	71675134	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon14:c.C1472T:p.T491I,CDH23:NM_001171931:exon14:c.C1472T:p.T491I,CDH23:NM_022124:exon14:c.C1472T:p.T491I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1507	14	1	0	16	0.00528053	.	.	.	55038	Usher_syndrome_type_1D|not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.046	0.00780733628355	.	0.000199681	0.0001	0	0	0	0.0002	3.002e-05	0	0.0009	0.0001164	18	154602	rs397517307	7.662e-05	7.661e-05	5.309e-05	0.0001	0.0010	6.491e-05	6.071e-05	0.0008	0.0007	0	0	0	0	7.491e-05	0.0007	1.709e-05	4.969e-05	0.0010	4.595e-05	4.593e-05	3.854e-05	5.37e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0	0	0	4.41e-05	0	0.0008	0.034	0.44029	D	0.051	0.76473	T	0.005	0.12996	B	0.014	0.16862	B	0.000251	0.46924	D	0.136830	0.609467	0.32608	D	0.445	0.12748	N	.	.	.	-2.43	0.53258	N	0.235	0.61426	-1.0722	0.08936	T	0.068	0.27913	T	9	0.06233692	0.07953	T	0.007807	0.20720	T	0.046	0.12618	0.407	0.44066	0.681506247658	0.67879	0.3607564847870143	0.35989	.	.	0.51847165823	0.41411	T	0.028988	0.53038	T	-0.441984	0.01259	T	-0.458097	0.26806	T	0.0661126765743497	0.08095	T	0.80032	0.44603	T	0.08309453	0.19174	0.14932433	0.35262	0.08006618	0.18326	0.25829297	0.51559	-5.845	0.44965	T	.	.	0.072	0.07841	B	.;.;.;.;.;.	.;.;.;.;.;.	2.775661	0.36443	20.2	0.99687927320463887	0.79708	0.88440	0.48369	D	AEFDBI	0.242165	0.36367	N	-0.430966283039247	0.24390	1.316608	-0.227183260809623	0.30566	1.722127	0.996872804950249	0.35080	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.72	2.61	0.30255	1.974000	0.40183	2.789000	0.34784	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.746000	0.35646	0.0:0.6803:0.2532:0.0666	12.092	0.53036	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2560.43	43	chr10	71675134	.	C	T	2560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.006;DP=691;ExcessHet=0;FS=1.238;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=1.21;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,68:161:99:0|1:71675131_G_C:2572,0,3629:71675131	9	0	1	0
chr10	71675166	71675166	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon14:c.G1504A:p.D502N,CDH23:NM_001171931:exon14:c.G1504A:p.D502N,CDH23:NM_022124:exon14:c.G1504A:p.D502N	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1519	3	0	0	3	0.000986518	.	.	.	493921	not_provided|Usher_syndrome_type_1	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.0113663399401	0.0002	.	5.835e-05	0.0001	0	0	0	9.045e-05	0	0	4.53e-05	7	154602	rs200459094	3.969e-05	3.967e-05	3.949e-05	3.989e-05	0.0005	3.114e-05	2.847e-05	0.0001	7.546e-05	0	2.236e-05	0	0	0	0.0005	4.588e-05	1.656e-05	2.319e-05	3.941e-05	3.939e-05	3.853e-05	4.033e-05	8.817e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.817e-05	0	0	.	.	.	0.015	0.67890	D	0.001	0.07471	B	0.008	0.13708	B	0.000005	0.62929	D	0.061598	0.999993	0.58761	D	0.69	0.16971	N	.	.	.	.	.	.	0.202	0.29081	-1.0268	0.21494	T	0.118	0.41538	T	9	0.17265767	0.32050	T	0.011366	0.28926	T	0.029	0.06676	.	.	0.697263286892	0.69465	0.3841017070216274	0.38325	.	.	0.51692545414	0.41193	T	0.01224	0.44353	T	-0.233749	0.16157	T	-0.381858	0.35505	T	0.400401464217497	0.28957	T	0.886611	0.61335	D	0.28462508	0.51488	0.29959977	0.55994	0.28462508	0.51488	0.29959977	0.55993	-4.773	0.34275	T	.	.	0.115	0.32104	B	.;.;.;.;.;.	.;.;.;.;.;.	3.429252	0.47650	22.5	0.99762815137744754	0.85172	0.98077	0.79403	D	AEFDBI	0.844675	0.76162	D	-0.136378455972356	0.35817	2.06211	0.0848858630290994	0.43787	2.673351	0.999999978881854	0.74766	0.614807	0.35715	0	0.610034	0.51514	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.72	4.81	0.61401	6.983000	0.75953	8.607000	0.77753	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0685:0.0:0.9315:0.0	15.094	0.71885	894	0.26265	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2060.43	137	chr10	71675166	.	G	A	2060.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=499;ExcessHet=0;FS=7.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=-1.032;SOR=1.014	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr10	71725421	71725421	G	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171930:exon29:c.G3480T:p.M1160I,CDH23:NM_022124:exon29:c.G3480T:p.M1160I	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1497	24	0	1	25	0.00795229	.	.	YES	55084	not_specified|not_provided|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.054	.	8e-05	0.00219649	0.0022	0.0001	0.0003	0.0002	0	0.0002	0.0011	0.0148	0.0018176	281	154602	rs111033519	0.0010	0.0010	0.0006	0.0015	0.0142	0.0010	0.0010	0.0136	0.0133	2.987e-05	2.236e-05	0.0003	2.519e-05	0	0.0029	0.0002	0.0011	0.0142	0.0005	0.0005	0.0003	0.0008	0.0133	0.0004	0.0004	0.0107	0.0097	2.406e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0	0.0133	.	.	.	0.514	0.26306	T	0.004	0.12183	B	0.013	0.16460	B	0.001150	0.40056	N	0.208576	1	0.81001	D	-0.67	0.02046	N	.	.	.	.	.	.	0.509	0.54059	-1.0268	0.21494	T	0.112	0.40052	T	9	0.007078856	0.00161	T	.	.	.	0.054	0.15330	0.475	0.55182	0.779814296898	0.77778	0.2157758739904076	0.21493	.	.	0.341554939747	0.16671	T	0.002114	0.37696	T	-0.38314	0.02976	T	-0.310807	0.43571	T	0.0534730017488531	0.06100	T	0.888711	0.61924	D	0.5319244	0.68940	0.5611373	0.74607	0.53026617	0.68846	0.5982625	0.76669	-1.621	0.02031	T	.	.	0.282	0.51489	B	.;.;.;.	.;.;.;.	3.312176	0.45517	22.1	0.9708094472198836	0.32281	0.92845	0.56686	D	AEFDBI	0.550311	0.56283	D	-0.240729420628005	0.31474	1.765275	-0.0102873979785231	0.39250	2.324314	0.999999440875665	0.74766	0.403107	0.06075	0	0.491513	0.07743	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.16	5.16	0.70563	2.078000	0.41191	9.940000	0.82649	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.639	0.91347	826	0.39940	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.050000	0.008621	0.003049	0.011364	0.05	1650.43	36	chr10	71725421	.	G	T	1650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.407;DP=475;ExcessHet=0;FS=2.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.983;SOR=0.688	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1277	9	0	1	0
chr10	71777860	71777860	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_022124:exon37:c.G5026A:p.A1676T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1509	13	0	0	13	0.00428901	.	.	.	55126	not_provided|not_specified|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00479233	0.0033	0	0.0003	0.0001	0	0.0003	0.0056	0.0227	0.0028201	436	154602	rs56043301	0.0015	0.0015	0.0009	0.0022	0.0219	0.0015	0.0015	0.0211	0.0208	5.974e-05	6.708e-05	0	2.519e-05	1.873e-05	0.0007	0.0002	0.0015	0.0219	0.0009	0.0009	0.0005	0.0013	0.0249	0.0008	0.0007	0.0213	0.0199	9.632e-05	0	6.539e-05	0	0	0	0	0.0001	0	0.0249	0.354	0.12148	T	0.22	0.25907	T	0.034	0.20480	B	0.027	0.21085	B	0.039516	0.24162	N	0.433926	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.64	0.18670	N	0.097	0.07811	-1.0219	0.23096	T	0.033	0.14290	T	9	0.0066916347	0.00152	T	.	.	.	0.048	0.13305	.	.	0.386882687439	0.38305	0.3721719975764081	0.37131	.	.	0.283245682716	0.07950	T	0.013773	0.48136	T	-0.521253	0.00433	T	-0.503935	0.21940	T	0.0216951427282077	0.00875	T	0.756224	0.37950	T	0.043838363	0.06905	0.08517269	0.19646	0.040775653	0.05882	0.09209885	0.21686	-6.309	0.48793	T	.	.	0.078	0.06990	B	.;.	.;.	1.540296	0.19754	14.42	0.9891067170951231	0.48363	0.11442	0.16637	N	AEFGBI	0.098456	0.19840	N	-0.892614853736571	0.11017	0.529449	-0.809736197666211	0.14261	0.744189	0.999929085583321	0.46280	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.567339	0.31927	0	.	.	5.76	1.52	0.22158	0.864000	0.27581	1.140000	0.24397	0.676000	0.76740	0.002000	0.15269	0.235000	0.23811	0.903000	0.43903	0.1355:0.1169:0.6051:0.1426	4.308	0.10399	828	0.39726	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	720.43	37	chr10	71777860	.	G	A	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.142;DP=411;ExcessHet=0;FS=5.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.246;SOR=0.243	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr10	71806223	71806223	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon10:c.C1400T:p.P467L,CDH23:NM_001171934:exon10:c.C1400T:p.P467L,CDH23:NM_022124:exon55:c.C8120T:p.P2707L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	752240	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	.	0.00279553	0.0030	0	0.0008	0	0	0.0003	0	0.0104	0.0009573	148	154602	rs373230009	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0087	0.0085	0	0.0003	0	0	0	0.0042	6.486e-05	0.0009	0.0093	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0055	2.406e-05	0	0.0003	0	0.0006	0	0.0034	5.881e-05	0.0005	0.0083	0.03	0.45393	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.725	0.01781	N	0.24	0.59583	T	-2.23	0.50012	N	0.972	0.98268	-0.7626	0.57264	T	0.206	0.56485	T	10	0.010227531	0.00228	T	.	.	.	0.335	0.65718	0.44	0.49484	0.865627351664	0.86432	0.6866559061639508	0.68605	0.296736206452	0.32059	0.759593367577	0.75868	T	0.02799	0.58006	T	-0.0948292	0.37278	T	0.0975471	0.76745	D	0.0676290445450662	0.08315	T	0.958604	0.84374	D	0.4887914	0.66431	0.3310389	0.58967	0.45600507	0.64422	0.29566696	0.55598	-5.729	0.47793	T	.	.	0.148	0.38390	B	.;.;.;.	.;.;.;.	5.020994	0.83447	28.0	0.99899295886099915	0.97124	0.92335	0.55474	D	AEFDGBHCI	0.948946	0.96110	D	0.420765350813866	0.62566	4.47446	0.484984844637473	0.66993	5.025127	1.0	0.98316	0.56387	0.32371	0	0.491513	0.07743	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	7.869000	0.85513	4.840000	0.45276	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.577	0.91115	791	0.46100	Cadherin-like;Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	2337.43	35	chr10	71806223	.	C	T	2337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.211;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.85;ReadPosRankSum=0.875;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1090:.	9	0	1	0
chr10	71810506	71810506	C	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon15:c.C2294G:p.A765G,CDH23:NM_001171934:exon15:c.C2294G:p.A765G,CDH23:NM_022124:exon60:c.C9014G:p.A3005G	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1502	19	0	1	20	0.00628515	.	.	.	229902	Usher_syndrome_type_1|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	.	0.00279553	0.0014	0	0.0005	0.0001	0	7.506e-05	0	0.0098	0.0012484	193	154602	rs188966938	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	0	0.0002	0	0	0	0.0042	6.386e-05	0.0009	0.0095	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0.0034	5.882e-05	0.0005	0.0083	0.09	0.31987	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.001150	0.40056	N	0.207044	0.999995	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.71	0.40660	N	0.593	0.62696	-0.9556	0.39988	T	0.158	0.49094	T	10	0.008377165	0.00190	T	.	.	.	0.132	0.35948	.	.	0.745349639804	0.74305	0.34334484325574466	0.34248	0.2100548403	0.23481	0.697732031345	0.66816	T	0.007964	0.42196	T	-0.391431	0.02633	T	-0.327648	0.41731	T	0.028044143335165	0.01694	T	0.880112	0.59716	D	0.12058347	0.28372	0.2079746	0.45079	0.13911167	0.32146	0.22425441	0.47330	-6.718	0.53092	T	.	.	0.237	0.47128	B	.;.;.;.	.;.;.;.	3.218561	0.43840	21.8	0.99538915635684622	0.70398	0.86109	0.45329	D	AEFDBCI	0.538368	0.55579	D	-0.0761480775168596	0.38442	2.251477	0.0955146348702413	0.44321	2.716241	0.999999999795303	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	5.67	0.87673	3.284000	0.51413	7.651000	0.63703	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	19.761	0.96312	785	0.46916	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1269.43	35	chr10	71810506	.	C	G	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.538;DP=491;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=-1.071;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1252	9	0	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	2780.43	36	chr10	71811550	.	G	A	2780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=501;ExcessHet=0;FS=1.858;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.05;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	9	0	1	0
chr10	73498685	73498685	C	T	exonic	USP54	.	nonsynonymous SNV	USP54:NM_001320437:exon22:c.G4813A:p.D1605N,USP54:NM_001350995:exon22:c.G4708A:p.D1570N,USP54:NM_001378208:exon22:c.G4828A:p.D1610N,USP54:NM_001378209:exon22:c.G4828A:p.D1610N,USP54:NM_001378210:exon22:c.G4828A:p.D1610N,USP54:NM_152586:exon23:c.G4999A:p.D1667N	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0019	0.00758786	0.0063	0.0008	0.0020	0.0001	0.0003	0.0034	0.0036	0.0406	0.0057373	887	154602	rs117429793	0.0048	0.0048	0.0039	0.0056	0.0300	0.0047	0.0047	0.0290	0.0286	0.0004	0.0015	0.0091	5.054e-05	0.0002	0.0158	0.0034	0.0047	0.0300	0.0030	0.0030	0.0028	0.0033	0.0276	0.0028	0.0027	0.0238	0.0223	0.0007	0	0.0009	0.0075	0.0002	0.0003	0.0136	0.0036	0.0033	0.0276	0.217	0.19157	T	0.255	0.23365	T	0.003	0.11197	B	0.004	0.10090	B	.	.	.	.	0.997265	0.22728	N	1.59	0.40313	L	1.84	0.24656	T	-0.75	0.21003	N	0.081	0.15187	-1.0720	0.08979	T	0.032	0.13942	T	9	0.0031874776	0.00054	T	.	.	.	0.027	0.05988	.	.	0.244539031024	0.24083	0.12739062059800277	0.12665	0.161090804594	0.18180	0.343045890331	0.16894	T	0.001299	0.00775	T	-0.670526	0.00055	T	-0.712943	0.05145	T	0.00310305658237884	0.00033	T	0.735226	0.35154	T	0.02198605	0.00832	0.03208178	0.01889	0.02198605	0.00832	0.03208178	0.01888	-4.636	0.32621	T	.	.	0.092	0.21239	B	.;.	.;.	1.589521	0.20330	14.70	0.97309251252999618	0.33318	0.81022	0.40516	D	AEFDBI	0.156473	0.28183	N	-0.674840038345254	0.16740	0.8555635	-0.57157403984812	0.20236	1.089	0.992873459407796	0.33000	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.09	3.16	0.35406	1.751000	0.37967	4.075000	0.41695	0.577000	0.29297	0.878000	0.30948	1.000000	0.68203	0.007000	0.07825	0.0:0.7532:0.1602:0.0866	8.064	0.29812	720	0.55521	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.000000	0.008152	0.011696	0.000000	0.000000	0.012195	0.026515	0.05	1351.43	34	chr10	73498685	.	C	T	1351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.144;DP=423;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-1.029;SOR=0.578	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	9	0	1	0
chr10	73772394	73772394	G	A	exonic	FUT11	.	nonsynonymous SNV	FUT11:NM_001284194:exon1:c.G61A:p.A21T,FUT11:NM_173540:exon1:c.G61A:p.A21T	.	396	1113	11	2	0	15	0.00669344	.	.	.	2734024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0123797169567	0.0005	.	0.0014	0.0002	0.0011	0.0002	0.0015	0.0017	0	0.0018	0.0007503	116	154602	rs144665547	0.0007	0.0007	0.0006	0.0008	0.0024	0.0007	0.0006	0.0017	0.0016	6.68e-05	0.0008	0.0001	0	0.0005	0.0024	0.0006	0.0010	0.0019	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0003	0.0003	0	0.0003	0.0034	0.0008	0.0005	0.0008	0.205	0.20002	T	0.46	0.13140	T	0.001	0.07471	B	0.001	0.04355	B	0.201762	0.16582	N	0.626541	1	0.08975	N	0.895	0.22405	L	1.2	0.37405	T	-0.37	0.13226	N	0.145	0.14622	-1.0249	0.22116	T	0.036	0.15683	T	10	0.01172626	0.00255	T	0.01238	0.30901	T	0.015	0.02232	.	.	0.176091768786	0.17195	0.3454220110100522	0.34456	0.291643175406	0.31571	0.528488337994	0.42821	T	0.015517	0.12998	T	-0.570507	0.00220	T	-0.632804	0.10203	T	0.00400266535812665	0.00042	T	0.681532	0.29028	T	0.059129063	0.11979	0.08200375	0.18683	0.059129063	0.11979	0.08200375	0.18682	-5.346	0.40726	T	.	.	0.106	0.19720	B	.;.	.;.	1.268403	0.16667	12.69	0.95856582624535525	0.28008	0.17307	0.19780	N	ALL	0.098898	0.19918	N	-1.1188337232759	0.06308	0.2900389	-1.11774341410498	0.07361	0.357762	0.999999999942558	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.92	1.02	0.19102	1.271000	0.32700	5.218000	0.47990	0.618000	0.50648	0.004000	0.16614	0.999000	0.35428	0.053000	0.15439	0.1955:0.1669:0.6376:0.0	5.526	0.16249	552	0.72024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004573	0.005376	0.002725	0.005848	0.000000	0.008621	0.003086	0.007576	0.05	577.43	34	chr10	73772394	.	G	A	577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.657;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=1.24;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1106	9	0	1	0
chr10	73773652	73773652	G	A	exonic	FUT11	.	nonsynonymous SNV	FUT11:NM_001284194:exon2:c.G1171A:p.V391I,FUT11:NM_173540:exon2:c.G1171A:p.V391I	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	0.0002	0.00259585	0.0022	9.612e-05	0.0004	0.0001	0	0.0007	0.0033	0.0129	0.0019405	300	154602	rs199728665	0.0011	0.0011	0.0007	0.0015	0.0132	0.0011	0.0010	0.0125	0.0123	0.0001	0.0002	0.0033	2.519e-05	0	0.0092	0.0002	0.0017	0.0132	0.0008	0.0008	0.0007	0.0010	0.0141	0.0007	0.0007	0.0114	0.0104	2.405e-05	0	0.0004	0.0035	0.0002	0	0.0034	0.0005	0.0009	0.0141	0.041	0.41915	D	0.137	0.36901	T	0.964	0.57185	D	0.477	0.51145	P	0.000008	0.62929	N	0.108661	0.999994	0.58761	D	1.64	0.41913	L	1.79	0.25509	T	-0.84	0.22944	N	0.127	0.12055	-1.0971	0.04460	T	0.080	0.31615	T	10	0.017232686	0.00367	T	.	.	.	0.135	0.36572	.	.	0.292787519742	0.28880	0.5818986279450149	0.58118	0.738194856103	0.63100	0.480741262436	0.36159	T	0.023254	0.17785	T	-0.501132	0.00563	T	-0.481587	0.24278	T	0.0616751302615466	0.07429	T	0.847215	0.52823	T	0.11704553	0.27598	0.08787583	0.20454	0.11704553	0.27597	0.08787583	0.20453	-5.451	0.42765	T	.	.	0.085	0.23640	B	.;.	.;.	3.678221	0.52339	23.2	0.99409850853075798	0.63216	0.88408	0.48322	D	AEFDGBCI	0.693346	0.65271	D	0.285157580618396	0.55396	3.703654	0.329905911206999	0.57304	3.895676	0.999999999439754	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	5.68	4.78	0.60666	5.634000	0.67507	7.541000	0.60087	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1564:0.0:0.8436:0.0	11.360	0.48875	555	0.71762	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.026515	0.05	2344.43	37	chr10	73773652	.	G	A	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.269;DP=496;ExcessHet=0;FS=4.582;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-2.432;SOR=1.053	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1280	9	0	1	0
chr10	75029035	75029035	G	A	exonic	KAT6B	.	nonsynonymous SNV	KAT6B:NM_001370135:exon10:c.G1868A:p.R623H,KAT6B:NM_001370133:exon11:c.G2522A:p.R841H,KAT6B:NM_001370134:exon12:c.G2126A:p.R709H,KAT6B:NM_001370143:exon15:c.G3146A:p.R1049H,KAT6B:NM_001370144:exon16:c.G3146A:p.R1049H,KAT6B:NM_001370132:exon17:c.G3173A:p.R1058H,KAT6B:NM_001370141:exon17:c.G3335A:p.R1112H,KAT6B:NM_001370142:exon17:c.G3335A:p.R1112H,KAT6B:NM_001256468:exon18:c.G3662A:p.R1221H,KAT6B:NM_001256469:exon18:c.G3335A:p.R1112H,KAT6B:NM_001370136:exon18:c.G4211A:p.R1404H,KAT6B:NM_001370137:exon18:c.G4211A:p.R1404H,KAT6B:NM_001370138:exon18:c.G3662A:p.R1221H,KAT6B:NM_001370139:exon18:c.G3335A:p.R1112H,KAT6B:NM_001370140:exon18:c.G3335A:p.R1112H,KAT6B:NM_012330:exon18:c.G4211A:p.R1404H	Genitopatellar syndrome, Autosomal dominant;SBBYSS syndrome	.	.	.	.	.	.	.	.	.	.	1184406	Genitopatellar_syndrome|Inborn_genetic_diseases|KAT6B-related_disorder|Blepharophimosis_-_intellectual_disability_syndrome,_SBBYS_type|not_provided	MONDO:MONDO:0011640,MedGen:C1853566,OMIM:606170,Orphanet:85201|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0011365,MedGen:C1863557,OMIM:603736,Orphanet:3047|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.018293983826	.	.	0.0002	0	0.0002	0	0	0.0002	0	0.0005	0.0002458	38	154602	rs563033366	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	5.974e-05	0.0001	3.826e-05	0	0	0.0002	0.0004	0.0004	0.0003	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0002	7.227e-05	0	0	0	0	0	0	0.0004	0.0005	0.0002	0.832	0.03555	T	0.118	0.36233	T	0.0	0.02946	B	0.0	0.01387	B	0.255459	0.03674	N	1.550470	1	0.08975	N	-1.155	0.00891	N	-1.03	0.76561	T	1.38	0.01011	N	0.074	0.04790	-0.9147	0.46259	T	0.192	0.54448	T	10	0.018147588	0.00392	T	0.018294	0.40304	T	0.131	0.35738	.	.	0.171220215726	0.16700	0.02025162819760322	0.01978	0.242065103099	0.26720	0.19667583704	0.00367	T	0.050504	0.28615	T	-0.46996	0.00850	T	-0.594768	0.13255	T	0.0154008298851443	0.00344	T	.	.	.	0.00914532	0.00002	0.018084703	0.00046	0.00914532	0.00002	0.018084703	0.00046	-2.956	0.10464	T	.	.	0.055	0.01367	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.067980	0.00680	0.019	0.704473713444142	0.09299	0.03526	0.08713	N	AEFDBI	0.055132	0.10085	N	-1.51786400617653	0.01732	0.07582887	-1.59187382372277	0.01704	0.07745942	0.99998961018287	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.8	-7.29	0.01303	-0.778000	0.04770	-7.546000	0.01134	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.867000	0.41218	0.5224:0.2938:0.1838:0.0	8.635	0.33103	23	0.98420	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1086.43	33	chr10	75029035	.	G	A	1086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=446;ExcessHet=0;FS=1.55;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-1.004;SOR=0.856	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1196	9	0	1	0
chr10	75235684	75235684	T	C	exonic	COMTD1	.	nonsynonymous SNV	COMTD1:NM_144589:exon2:c.A154G:p.S52G	.	433	1069	18	2	0	22	0.0101852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.046977043092	0.0003	0.000998403	0.0024	0.0003	0.0071	0	0	0.0017	0.0086	0.0037	0.0012419	192	154602	rs200334065	0.0011	0.0011	0.0010	0.0012	0.0080	0.0010	0.0010	0.0061	0.0055	0.0002	0.0029	3.885e-05	2.571e-05	0.0001	0.0080	0.0010	0.0015	0.0030	0.0008	0.0008	0.0008	0.0008	0.0014	0.0007	0.0007	0.0008	0.0008	0.0005	0	0.0012	0	0	0	0.0102	0.0010	0.0024	0.0014	0.172	0.22660	T	0.239	0.24477	T	0.403	0.34918	B	0.031	0.21939	B	0.000305	0.45977	D	0.254671	0.996335	0.23046	N	1.67	0.42885	L	-0.53	0.70833	T	-0.94	0.25118	N	0.271	0.30687	-0.9326	0.43755	T	0.155	0.48670	T	10	0.007448137	0.00169	T	0.046977	0.62709	D	0.054	0.15330	.	.	0.772796092587	0.77070	0.4309459188616709	0.43011	0.385891351295	0.39878	0.464715868235	0.33956	T	0.09514	0.39561	T	-0.502747	0.00552	T	-0.497989	0.22555	T	0.0113847863134919	0.00170	T	0.517648	0.16760	T	0.26779887	0.49852	0.09805693	0.23365	0.26779887	0.49852	0.09805693	0.23364	-4.625	0.32484	T	.	.	0.107	0.20117	B	.	.	2.017661	0.25641	16.83	0.97972297565841349	0.37261	0.80462	0.40093	D	AEFDGBHCI	0.135922	0.25642	N	-0.228388186074571	0.31973	1.798296	-0.118941844953823	0.34625	1.99395	0.999999999979343	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	5.29	2.53	0.29594	1.296000	0.32994	1.713000	0.28208	-0.222000	0.07959	0.878000	0.30948	0.984000	0.30665	0.172000	0.21044	0.0:0.1056:0.1831:0.7112	5.244	0.14806	19	0.98577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005635	0.010989	0.005479	0.002976	0.000000	0.000000	0.006289	0.003817	0.1	631.14	34	chr10	75235684	.	T	C	631.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.13;DP=345;ExcessHet=0.2348;FS=0.884;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.389;SOR=0.852	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	8	0	2	0
chr10	75401348	75401348	-	CCG	exonic	ZNF503	.	nonframeshift insertion	ZNF503:NM_032772:exon1:c.71_72insCGG:p.G27_A28insG	.	142	1331	24	1	24	50	0.00967262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0042	0.0055	0	0	0.0046	0	0.0044	0.0016521	43	26028	rs780118403	0.0031	0.0030	0.0030	0.0033	0.0094	0.0031	0.0030	0.0072	0.0065	0.0044	0.0021	0.0066	8.399e-05	0.0007	0.0094	0.0030	0.0037	0.0064	0.0038	0.0038	0.0042	0.0034	0.0081	0.0036	0.0034	0.0061	0.0054	0.0041	0	0.0028	0.0087	0	0.0003	0.0035	0.0043	0.0048	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015222	0.012346	0.020202	0.016234	0.000000	0.058140	0.014925	0.004310	0.05	419.39	35	chr10	75401348	.	T	TCCG	419.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.902;DP=370;ExcessHet=0;FS=1.351;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=1.22;SOR=0.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,933	9	0	1	0
chr10	77637586	77637586	-	CCGCCG	exonic	KCNMA1	.	nonframeshift insertion	KCNMA1:NM_001014797:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001161352:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001161353:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271518:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271519:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271520:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271521:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001271522:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322829:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322830:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322832:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322835:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322836:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322837:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_001322839:exon1:c.56_57insCGGCGG:p.G20_S21insGG,KCNMA1:NM_002247:exon1:c.56_57insCGGCGG:p.G20_S21insGG	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	639177	not_provided|Generalized_epilepsy-paroxysmal_dyskinesia_syndrome|Epilepsy,_idiopathic_generalized,_susceptibility_to,_16	MedGen:C3661900|MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137|MONDO:MONDO:0032827,MedGen:C5231421,OMIM:618596	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	9.911e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs760628050	0.0001	0.0001	0.0001	9.742e-05	0.0002	8.656e-05	8.141e-05	0.0001	7.803e-05	0.0002	2.883e-05	0	2.841e-05	0	0.0002	9.99e-05	0.0002	8.978e-05	9.265e-05	9.873e-05	0.0001	8.134e-05	0.0002	5.566e-05	4.394e-05	7.946e-05	5.623e-05	0.0002	0	0.0002	0	0	0	0	5.912e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1242.39	33	chr10	77637586	.	T	TCCGCCG	1242.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.579;DP=386;ExcessHet=0;FS=1.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.8;ReadPosRankSum=-0.483;SOR=0.951	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,962	9	0	1	0
chr10	79559428	79559428	G	A	exonic	SFTPA2	.	nonsynonymous SNV	SFTPA2:NM_001320814:exon2:c.C86T:p.A29V,SFTPA2:NM_001098668:exon3:c.C56T:p.A19V,SFTPA2:NM_001320813:exon3:c.C56T:p.A19V	Pulmonary fibrosis, idiopathic, Autosomal dominant	0	1462	60	0	0	60	0.0201072	.	.	.	3192701	SFTPA2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.001	0.00189814060386	.	.	0.0001	0.0003	0	0.0005	0	8.994e-05	0	6.057e-05	0.0002781	43	154602	rs201847938	0.0012	0.0021	0.0012	0.0012	0.0323	0.0012	0.0012	0.0308	0.0302	0.0047	0.0006	3.828e-05	0.0323	0.0004	0.0005	0.0001	0.0018	0.0003	0.0038	0.0060	0.0037	0.0040	0.0304	0.0036	0.0035	0.0265	0.0250	0.0085	0	0.0022	0	0.0304	0	0	0.0005	0.0039	0.0006	0.418	0.10766	T	0.536	0.21011	T	.	.	.	.	.	.	0.010486	0.01277	N	3.044690	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.07	0.17417	N	0.099	0.08786	-1.0191	0.24008	T	0.018	0.07565	T	10	0.007704824	0.00175	T	0.001898	0.03351	T	0.001	0.00016	.	.	0.0297737177859	0.01360	0.22878249210169205	0.22793	1.20388962658	0.80625	0.303709745407	0.10956	T	.	.	.	-0.743731	0.00019	T	-0.833133	0.01208	T	0.00226092024672188	0.00023	T	0.244176	0.22338	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.45298	B	.;.;.;.;.	.;.;.;.;.	0.044720	0.04601	1.271	0.70924366433238284	0.09456	0.00317	0.01669	N	AEFDBI	0.021427	0.00953	N	-1.46253944312824	0.02120	0.09327911	-1.52497080398142	0.02153	0.09860438	1.60258661699625E-4	0.05650	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.542086	0.14980	0	.	.	2.78	-2.32	0.06360	-0.338000	0.07888	0.153000	0.15315	-0.615000	0.04575	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.41:0.0:0.3331:0.2569	2.56	0.04480	649	0.63102	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001740	0.006944	0.001366	0.000000	0.000000	0.000000	0.003597	0.000000	0.05	46.43	38	chr10	79559428	.	G	A	46.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.77;DP=811;ExcessHet=0;FS=70.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.39;MQRankSum=-3.627;QD=0.27;ReadPosRankSum=-3.849;SOR=5.36	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	9	0	1	0
chr10	79710486	79710486	-	AGAG	exonic	NUTM2B	.	frameshift insertion	NUTM2B:NM_001278495:exon5:c.1456_1457insAGAG:p.H486Qfs*26	.	509	1009	4	0	0	4	0.00197824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1419361721	0.0049	0.0067	0.0050	0.0049	0.0054	0.0048	0.0048	0.0053	0.0053	0.0010	0.0019	0.0077	2.65e-05	0.0097	0.0020	0.0054	0.0048	0.0003	0.0046	0.0057	0.0046	0.0046	0.0064	0.0043	0.0042	0.0059	0.0057	0.0012	0.0156	0.0029	0.0070	0	0.0110	0	0.0064	0.0039	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	120.4	16	chr10	79710486	.	C	CAGAG	120.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.629;DP=165;ExcessHet=0;FS=0;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=29.02;MQRankSum=0.065;QD=7.53;ReadPosRankSum=-0.426;SOR=0.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:48:.:.:0,48,530:.	9	0	1	0
chr10	79710490	79710493	GGCG	-	exonic	NUTM2B	.	frameshift deletion	NUTM2B:NM_001278495:exon5:c.1460_1463del:p.R487Qfs*60	.	515	1003	4	0	0	4	0.00199005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs1446451845	0.0046	0.0067	0.0047	0.0045	0.0050	0.0045	0.0045	0.0049	0.0049	0.0009	0.0019	0.0075	2.656e-05	0.0095	0.0020	0.0050	0.0046	0.0003	0.0045	0.0057	0.0045	0.0045	0.0063	0.0042	0.0041	0.0058	0.0056	0.0012	0.0167	0.0027	0.0071	0	0.0110	0	0.0063	0.0039	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	120.4	16	chr10	79710489	.	CGGCG	C	120.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=166;ExcessHet=0;FS=0;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=29.02;MQRankSum=0.065;QD=7.53;ReadPosRankSum=-0.364;SOR=0.138	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:48:.:.:0,48,530:.	9	0	1	0
chr10	79842039	79842039	G	A	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon4:c.G299A:p.G100D	.	702	811	1	8	0	17	0.0103722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0157929363721	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301685879	0.0003	0.0003	0.0002	0.0003	0.0039	0.0003	0.0002	0.0022	0.0017	0.0001	5.681e-05	0	0	0	0.0039	0.0003	0.0003	0.0008	7.783e-05	0.0002	7.59e-05	7.986e-05	0.0003	3.84e-05	2.811e-05	4.997e-05	3.225e-05	2.854e-05	0	9.386e-05	0	0	0	0	0.0001	0	0.0003	0.027	0.46513	D	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.65	0.12676	T	-0.34	0.12661	N	0.117	0.24634	-1.0157	0.25110	T	0.036	0.15596	T	5	0.1156123	0.21786	T	0.015793	0.36715	T	0.032	0.07718	0.655	0.79276	0.12205267543	0.11705	0.04845181486122116	0.04788	.	.	.	.	.	0.007479	0.06883	T	-0.501195	0.00563	T	-0.633765	0.10131	T	0.0370277158538044	0.03159	T	0.582242	0.21111	T	0.15302628	0.34708	0.1937799	0.42966	0.15302628	0.34708	0.1937799	0.42965	-4.563	0.31703	T	.	.	0.157	0.34797	B	.;.	.;.	0.959560	0.13359	9.865	0.59411582530257734	0.06218	0.00807	0.03278	N	AEFI	0.032579	0.03706	N	-0.602864344156365	0.18857	0.9824356	-0.823243879813379	0.13933	0.7254091	1.55792357979817E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.709	0.709	0.17307	1.216000	0.32046	-0.062000	0.12412	0.339000	0.19733	0.023000	0.19925	0.000000	0.08366	0.044000	0.14658	.	.	.	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1202.65	35	chr10	79842039	.	G	A	1202.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.247;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.5;MQRankSum=-5.865;QD=7.66;ReadPosRankSum=-1.466;SOR=0.659	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	6	0	1	3
chr10	79849996	79849996	C	T	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon10:c.C2027T:p.T676M	.	655	797	60	10	0	80	0.0477897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00752286326415	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1283256334	0.0013	0.0083	0.0011	0.0015	0.0100	0.0012	0.0012	0.0090	0.0087	0.0013	0.0044	0.0013	0.0100	0.0010	0.0015	0.0007	0.0017	0.0018	0.0010	0.0073	0.0010	0.0011	0.0016	0.0008	0.0008	0.0012	0.0011	0.0016	0	0.0009	0.0005	0.0016	0.0002	0	0.0008	0	0.0010	0.906	0.02389	T	0.483	0.11795	T	.	.	.	.	.	.	0.049797	0.02003	N	2.004150	1	0.08975	N	.	.	.	2.81	0.10975	T	0.09	0.05917	N	0.059	0.03069	-0.9915	0.32218	T	0.014	0.05417	T	7	0.053594023	0.05576	T	0.007523	0.19952	T	0.003	0.00094	0.144	0.04746	0.107399877778	0.10242	0.08661387145835503	0.08595	.	.	.	.	.	0.00283	0.02227	T	-0.43608	0.01364	T	-0.864175	0.00799	T	0.0317004563033394	0.02258	T	0.430757	0.11694	T	0.012236715	0.00030	0.025865948	0.00648	0.012236715	0.00030	0.025865948	0.00647	-5.039	0.37261	T	.	.	0.077	0.06479	B	.	.	-0.445032	0.02050	0.187	0.13272315138501015	0.00256	0.00045	0.00362	N	AEFI	0.014412	0.00228	N	-1.34859579757259	0.03140	0.1397655	-1.57937064157927	0.01781	0.08108524	5.67193482380288E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.844	-1.69	0.07747	-3.458000	0.00516	-20.000000	0.00162	-1.652000	0.00824	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3413:0.0:0.6587	5.420	0.15696	729	0.54495	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	45.65	34	chr10	79849996	.	C	T	45.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=269;ExcessHet=0;FS=4.696;MLEAC=1;MLEAF=0.071;MQ=32.79;MQRankSum=-1.252;QD=1.9;ReadPosRankSum=-0.931;SOR=1.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	6	0	1	3
chr10	80538374	80538374	C	G	exonic	SH2D4B	.	nonsynonymous SNV	SH2D4B:NM_207372:exon1:c.C43G:p.L15V	.	414	1107	1	0	0	1	0.000451467	.	.	.	3317882	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.00423306183917	.	.	9.406e-05	0	0	0	0	0.0002	0	0	3.23e-05	5	154602	rs577059009	9.77e-05	0.0001	0.0001	7.688e-05	0.0029	8.363e-05	7.837e-05	0.0017	0.0014	0.0003	0.0010	0.0004	0	0	0.0029	6.239e-05	0.0003	1.758e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0	0	0.0005	0.0012	0	0	0.0136	0.0002	0.0014	0.0002	0.0	0.91255	D	0.008	0.67890	D	0.998	0.73220	D	0.996	0.84481	D	0.000008	0.62929	D	0.000000	0.999921	0.51308	D	1.62	0.41497	L	2.59	0.13317	T	-2.19	0.49352	N	0.175	0.18784	-1.0981	0.04328	T	0.097	0.36496	T	10	0.11804545	0.22309	T	0.004233	0.10216	T	0.195	0.47612	0.518	0.61915	0.726185039024	0.72376	0.15411021449129814	0.15332	0.269134177916	0.29430	0.581686317921	0.50322	T	.	.	.	-0.421567	0.01671	T	-0.448487	0.27864	T	0.230524958891019	0.21976	T	0.958704	0.85835	D	.	.	.	.	.	.	.	.	-8.599	0.65083	D	.	.	0.174	0.38062	B	.;.	.;.	3.362878	0.46435	22.3	0.9983337014735939	0.91456	0.78347	0.38640	D	AEFBCI	0.357199	0.44831	N	0.677662152115517	0.78167	6.817655	0.658613775610813	0.79254	7.043646	0.99999935750402	0.74766	0.403107	0.06075	0	0.475579	0.06741	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.53	5.53	0.82530	2.800000	0.47595	2.696000	0.34125	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	16.955	0.86126	972	0.05671	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003099	0.000000	0.002817	0.005952	0.000000	0.000000	0.000000	0.003817	0.05	1006.43	79	chr10	80538374	.	C	G	1006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.073;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=1.03;SOR=0.72	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1094	9	0	1	0
chr10	81878002	81878002	A	C	exonic	NRG3	.	nonsynonymous SNV	NRG3:NM_001165973:exon1:c.A42C:p.R14S	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00232485124126	.	.	9.753e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs758891785	7.795e-05	7.388e-05	7.979e-05	7.607e-05	9.083e-05	6.592e-05	6.127e-05	7.625e-05	7.005e-05	3.165e-05	0	0	0	5.669e-05	0	9.083e-05	5.165e-05	5.049e-05	2.63e-05	2.627e-05	1.285e-05	4.038e-05	6.55e-05	8.15e-06	5.14e-06	8.01e-06	3e-06	4.831e-05	0	6.55e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	1.41	0.50459	T	0.18	0.05035	N	0.082	0.24385	-1.0127	0.26070	T	0.055	0.23110	T	9	0.047946274	0.04180	T	0.002325	0.04479	T	0.024	0.04979	0.32	0.29902	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.23108	0.59732	T	-0.456855	0.01028	T	-0.697715	0.05951	T	0.0321661661073426	0.02332	T	0.255674	0.11480	T	.	.	.	.	.	.	.	.	-3.321	0.14010	T	.	.	0.316	0.61316	B	.;.;.	.;.;.	0.103368	0.05042	1.590	0.30135975887647626	0.01633	0.04106	0.09575	N	AEFBI	0.081649	0.16525	N	-1.56955443728597	0.01424	0.06208401	-1.70016851153661	0.01137	0.0511123	0.999999989711219	0.74766	0.541725	0.22260	1	0.573888	0.26702	0	0.475579	0.07313	0	0.631177	0.49321	0	.	.	4.23	-8.47	0.00819	-0.114000	0.10729	-0.793000	0.07406	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2754:0.1944:0.1153:0.4149	0.810	0.01021	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001142	0.000000	0.006024	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	993.43	74	chr10	81878002	.	A	C	993.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.901;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,964	9	0	1	0
chr10	84241393	84241393	G	A	exonic	LRIT1	.	nonsynonymous SNV	LRIT1:NM_015613:exon1:c.C47T:p.P16L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00721235765164	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768222670	2.743e-06	3.42e-06	0	5.514e-06	3.005e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	3.005e-05	0	0	2.528e-05	0	0	1.801e-06	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.545e-05	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.804222	0.09300	N	0.910005	1	0.08975	N	-1.065	0.01049	N	1.35	0.34648	T	2.0	0.00406	N	0.096	0.07673	-0.9841	0.34045	T	0.025	0.10688	T	10	0.03599423	0.01875	T	0.007212	0.19116	T	0.072	0.21020	0.453	0.51612	0.141422826196	0.13715	0.2121606331679276	0.21132	0.079923404182	0.08995	0.277705073357	0.07175	T	0.006236	0.05676	T	-0.460725	0.00973	T	-0.727118	0.04460	T	0.0487541465666622	0.05279	T	0.444056	0.12368	T	0.022040399	0.00842	0.030404605	0.01492	0.022040399	0.00842	0.030404605	0.01492	-3.787	0.20610	T	.	.	0.077	0.06295	B	.	.	0.145052	0.05383	1.862	0.63046012975906429	0.07120	0.00651	0.02833	N	AEFDBI	0.061660	0.11802	N	-1.14795255050599	0.05813	0.2660057	-1.05623984742185	0.08577	0.4223897	2.83117863147542E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	4.46	2.06	0.25932	1.160000	0.31372	0.340000	0.17371	0.614000	0.49286	0.057000	0.21666	0.000000	0.08366	0.089000	0.17737	0.3919:0.0:0.2854:0.3227	2.003	0.03261	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1111.43	34	chr10	84241393	.	G	A	1111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=392;ExcessHet=0;FS=5.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-1.061;SOR=1.144	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr10	85647267	85647267	G	A	exonic	GRID1	.	nonsynonymous SNV	GRID1:NM_017551:exon13:c.C2128T:p.R710W	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0604126611595	0.0002	0.000199681	0.0001	9.612e-05	0	0	0	4.496e-05	0	0.0007	0.0001035	16	154602	rs377669879	0.0001	0.0001	8.576e-05	0.0001	0.0009	9.94e-05	9.348e-05	0.0007	0.0007	5.974e-05	4.472e-05	0	0	1.872e-05	0.0007	6.475e-05	0.0001	0.0009	7.222e-05	7.217e-05	5.138e-05	9.399e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.992e-05	2.407e-05	0	0	0	0	9.422e-05	0	8.819e-05	0	0.0006	0.005	0.63226	D	0.002	0.79402	D	0.981	0.59675	D	0.625	0.51564	P	0.000010	0.62929	D	0.143577	1	0.81001	D	2.83	0.82355	M	1.7	0.26885	T	-3.34	0.66325	D	0.594	0.61341	-0.6968	0.60591	T	0.111	0.39817	T	10	0.26609462	0.44111	T	0.060413	0.67993	D	0.350	0.67142	.	.	0.256237801699	0.25221	0.7677471108163131	0.76723	0.838637053971	0.67932	0.796920657158	0.81495	T	0.79597	0.94747	D	-0.301992	0.08472	T	-0.292072	0.45558	T	0.690339088439941	0.40263	D	0.981602	0.93790	D	0.36703163	0.58365	0.2687183	0.52744	0.36703163	0.58365	0.2687183	0.52743	-11.072	0.80051	D	.	.	0.494	0.64320	A	.	.	3.917680	0.57180	23.8	0.99825935079263484	0.90852	0.80373	0.40028	D	AEFDBI	0.740854	0.68497	D	-0.117058500806068	0.36651	2.12131	-0.259528515032187	0.29444	1.649694	0.087909997553158	0.16046	0.554377	0.28877	0	0.573888	0.26702	0	0.597571	0.31856	0	0.567892	0.33627	0	.	.	5.7	-5.39	0.02457	1.430000	0.34522	-0.150000	0.11428	-0.140000	0.12423	1.000000	0.71638	0.202000	0.23578	0.974000	0.55675	0.0:0.0:0.6216:0.3784	19.197	0.93677	949	0.11373	Ionotropic glutamate receptor|Ionotropic glutamate receptor	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2101.43	33	chr10	85647267	.	G	A	2101.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.754;DP=495;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.832;SOR=0.787	GT:AD:DP:GQ:PL	0/1:88,97:185:99:2113,0,1942	9	0	1	0
chr10	86679436	86679436	G	A	exonic	LDB3	.	nonsynonymous SNV	LDB3:NM_001080116:exon2:c.G163A:p.V55I,LDB3:NM_001080114:exon3:c.G163A:p.V55I,LDB3:NM_001080115:exon3:c.G163A:p.V55I,LDB3:NM_001171610:exon3:c.G163A:p.V55I,LDB3:NM_001171611:exon3:c.G163A:p.V55I,LDB3:NM_001368063:exon3:c.G163A:p.V55I,LDB3:NM_001368064:exon3:c.G163A:p.V55I,LDB3:NM_001368065:exon3:c.G163A:p.V55I,LDB3:NM_001368066:exon3:c.G163A:p.V55I,LDB3:NM_001368067:exon3:c.G163A:p.V55I,LDB3:NM_001368068:exon3:c.G163A:p.V55I,LDB3:NM_007078:exon3:c.G163A:p.V55I	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	54696	Cardiomyopathy|not_provided|not_specified|Myofibrillar_Myopathy,_Dominant|Dilated_Cardiomyopathy,_Dominant|Cardiovascular_phenotype|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy_4	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MedGen:CN169374|MedGen:CN239446|MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0011094,MedGen:C1832244,OMIM:601493,Orphanet:154,Orphanet:54260|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.042	.	0.0011	0.01877	0.0072	0.0013	0.0068	0.0829	0	0.0005	0.0055	0.0017	0.0068822	1064	154602	rs3740343	0.0022	0.0022	0.0022	0.0021	0.0569	0.0021	0.0021	0.0549	0.0541	0.0006	0.0051	0.0053	0.0569	0	0.0003	9.532e-05	0.0049	0.0016	0.0038	0.0038	0.0036	0.0041	0.0790	0.0036	0.0035	0.0727	0.0702	0.0008	0	0.0054	0.0055	0.0790	0	0	0.0002	0.0038	0.0031	0.953	0.09866	T	1.0	0.11795	T	0.444	0.55854	B	0.178	0.43842	B	0.010905	0.29736	N	0.000000	0.999842	0.52396	D	-0.31	0.03598	N	1.53	0.30401	T	-0.08	0.16598	N	0.69	0.70702	-1.0970	0.04474	T	0.003	0.00897	T	10	0.0027198195	0.00042	T	.	.	.	0.042	0.11227	.	.	0.481690325388	0.47800	0.2117056381892599	0.21086	0.175839967579	0.19797	0.520493805408	0.41695	T	0.082499	0.36840	T	-0.621348	0.00108	T	-0.598493	0.12939	T	0.0125165561906274	0.00207	T	0.785621	0.42343	T	0.111602925	0.26371	0.13472922	0.32276	0.120809756	0.28421	0.101918496	0.24411	-7.169	0.59506	T	.	.	0.074	0.05017	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.249036	0.44386	21.9	0.99702023367273962	0.80729	0.88863	0.49000	D	AEFDGBHCI	0.311054	0.41689	N	-0.216748945562915	0.32446	1.829935	-0.0472555186734052	0.37609	2.204393	0.999999998375747	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.65	3.8	0.42887	3.581000	0.53658	2.921000	0.35563	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.1413:0.0:0.8587:0.0	11.847	0.51662	895	0.25842	.;.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	1153.43	35	chr10	86679436	.	G	A	1153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.541;DP=441;ExcessHet=0;FS=3.251;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.912;SOR=0.793	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr10	87009537	87009537	C	T	exonic	AGAP11	.	nonsynonymous SNV	AGAP11:NM_133447:exon12:c.C1285T:p.R429W	.	417	1102	3	0	0	3	0.00135931	.	.	.	2338832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0004	0.0008	0.0009	0	0	0.0004	0.0011	6.058e-05	0.000401	62	154602	rs190063080	0.0007	0.0007	0.0008	0.0007	0.0020	0.0007	0.0007	0.0011	0.0008	0.0003	0.0009	0	2.519e-05	0	0.0020	0.0008	0.0007	0.0003	0.0007	0.0007	0.0007	0.0006	0.0021	0.0006	0.0005	0.0015	0.0013	0.0005	0	0.0021	0	0	0	0	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001068	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003817	0.05	2311.43	38	chr10	87009537	.	C	T	2311.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.571;DP=497;ExcessHet=0;FS=2.13;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.47;MQRankSum=-0.936;QD=15.94;ReadPosRankSum=0.835;SOR=0.596	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr10	87226149	87226149	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.C319T:p.H107Y	.	1487	32	0	3	0	6	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	0.0129792	0.0047	0	0.0065	.	0	0.0072	0	0.1111	0.0012678	196	154602	rs78856879	0.0208	0.0029	0.0194	0.0224	0.2256	0.0198	0.0194	0.1928	0.1804	0.0007	0.0846	0	0	0	0	0.0232	0.0164	0.2256	0.0002	0.0074	0	0.0005	0.0012	5.721e-05	3.055e-05	0.0002	7.046e-05	0	0	0.0012	0	0	0	0	0.0010	0	0	0.618	0.05341	T	0.098	0.46862	T	0.659	0.40886	P	0.403	0.44588	B	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.21473	T	-0.21	0.10308	N	0.195	0.21449	-1.0471	0.15217	T	0.026	0.11309	T	9	0.0029922426	0.00049	T	.	.	.	0.087	0.25287	.	.	.	.	0.012261439894405911	0.01185	.	.	0.606433749199	0.53813	T	0.001635	0.01065	T	-0.341822	0.05262	T	-0.72878	0.04383	T	0.0845391506841971	0.10558	T	0.476552	0.14308	T	0.03928617	0.05395	0.06041585	0.11501	0.03928617	0.05394	0.06041585	0.11500	-4.642	0.32695	T	.	.	0.078	0.12797	B	.;.	.;.	1.149009	0.15371	11.80	0.52149812966942932	0.04694	0.02677	0.07305	N	AEFI	0.029649	0.02839	N	-1.04507266648348	0.07685	0.3578228	-1.15891487746776	0.06610	0.3187014	5.31718313235543E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	0.354	0.15300	0.244000	0.17899	-3.032000	0.03123	-0.555000	0.04881	0.897000	0.31356	0.000000	0.08366	0.005000	0.06747	0.0:0.7433:0.0:0.2567	3.743	0.08063	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.096774	0.166667	0.125000	0.038462	0	0.000000	0.111111	0.000000	0.5	44.51	.	chr10	87226149	.	C	T	44.51	.	AC=2;AF=0.5;AN=4;DP=3;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=24;QD=22.26;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	1	0	8
chr10	87228389	87228389	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon2:c.C509T:p.A170V	.	430	1082	10	0	0	10	0.00459982	.	.	.	2330951	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00147455499033	.	0.000399361	0.0008	0.0001	0.0004	0	0	0.0009	0.0022	0.0014	0.0001153	3	26028	rs527666213	0.0007	0.0009	0.0007	0.0008	0.0036	0.0007	0.0007	0.0022	0.0018	2.994e-05	0.0006	0.0009	2.519e-05	0	0.0036	0.0007	0.0010	0.0016	0.0004	0.0006	0.0006	0.0003	0.0010	0.0004	0.0003	0.0006	0.0005	4.809e-05	0	0.0002	0.0006	0	0	0.0068	0.0007	0.0009	0.0010	1.0	0.00964	T	1.0	0.05380	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	0.8	0.01866	N	0.094	0.09349	-1.0111	0.26573	T	0.010	0.03811	T	9	0.009260714	0.00209	T	0.001475	0.02241	T	0.041	0.10877	.	.	0.043077524339	0.03247	0.020935663021464664	0.02046	.	.	0.590347886086	0.51543	T	0.001446	0.00900	T	-0.603563	0.00139	T	-0.755322	0.03283	T	0.0168300335571351	0.00437	T	0.319468	0.06419	T	0.016922558	0.00232	0.033627883	0.02289	0.016922558	0.00232	0.033627883	0.02289	-4.27	0.29064	T	.	.	0.048	0.00254	B	.;.	.;.	-0.032650	0.04062	0.944	0.52768623389137248	0.04811	0.00016	0.00195	N	AEFI	0.013084	0.00162	N	-2.08028175829282	0.00141	0.006052522	-2.08012279870684	0.00206	0.009066223	5.46026951212881E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.29	-2.07	0.06873	-0.030000	0.12257	1.434000	0.26471	-0.628000	0.04523	0.000000	0.06391	0.006000	0.19429	0.001000	0.02609	0.0:0.3494:0.2422:0.4084	3.020	0.05703	925	0.17918	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000567	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	502.43	35	chr10	87228389	.	C	T	502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.601;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.3;MQRankSum=1.19;QD=6.98;ReadPosRankSum=-0.704;SOR=0.646	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.1667	418.26	60	chr10	87232948	.	C	T	418.26	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.01;DP=311;ExcessHet=0.7463;FS=34.917;InbreedingCoeff=-0.2084;MLEAC=3;MLEAF=0.167;MQ=31.56;MQRankSum=-3.567;QD=4.4;ReadPosRankSum=0.595;SOR=4.375	GT:AD:DP:GQ:PL	0/1:13,2:15:12:12,0,347	6	0	3	1
chr10	87862043	87862043	A	T	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.T445A:p.W149R	Cowden syndrome 4	404	1089	27	2	0	31	0.0140335	.	.	.	1328827	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.081	.	0.0033	0.00778754	0.0100	0.0057	0.0094	0.0218	0.0294	0.0058	0	0.0485	0.0019081	295	154602	rs144811392	0.0044	0.0043	0.0040	0.0048	0.0220	0.0043	0.0043	0.0200	0.0196	0.0059	0.0042	0.0224	0.0013	0.0015	0.0220	0.0029	0.0069	0.0209	0.0050	0.0050	0.0051	0.0050	0.0197	0.0047	0.0046	0.0165	0.0153	0.0055	0	0.0060	0.0236	0.0048	0.0013	0.0068	0.0032	0.0043	0.0197	0.0	0.91255	D	0.0	0.92824	D	0.053	0.22573	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-13.33	0.99923	D	0.518	0.54845	-1.0009	0.29660	T	0.028	0.12058	T	7	0.004883915	0.00104	T	.	.	.	0.081	0.23632	0.273	0.22369	0.187945064343	0.18414	0.01955883499582311	0.01909	.	.	0.516497671604	0.41134	T	0.073376	0.34684	T	-0.320565	0.06851	T	-0.21699	0.53027	T	0.0646169826733294	0.07873	T	.	.	.	0.4524634	0.64197	0.48240533	0.70030	0.4524634	0.64198	0.48240533	0.70030	-1.846	0.02650	T	.	.	0.624	0.69881	P	.	.	2.927599	0.38882	20.8	0.65714381610574835	0.07851	0.07896	0.13885	N	ALL	0.082170	0.16635	N	-1.24715766884081	0.04337	0.1955592	-1.21298957757575	0.05701	0.2723601	0.99999999999944	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.02	0.222	0.14563	0.290000	0.18731	0.087000	0.14465	-0.562000	0.04833	0.371000	0.25932	0.000000	0.08366	0.079000	0.17189	0.6162:0.0:0.3838:0.0	7.162	0.24847	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027655	0.025641	0.036036	0.035398	0.000000	0.000000	0.024691	0.026786	0.05	900.43	38	chr10	87862043	.	A	T	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=405;ExcessHet=0;FS=2.89;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.271;SOR=1.069	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1117	9	0	1	0
chr10	87862096	87862096	T	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.A392G:p.N131S	Cowden syndrome 4	401	1092	27	2	0	31	0.0139955	.	.	.	1328865	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.028	.	0.0031	0.00778754	0.0176	0.0072	0.0089	0.0213	0.0312	0.0090	0.0192	0.0490	0.0022121	342	154602	rs147932146	0.0045	0.0044	0.0041	0.0049	0.0211	0.0044	0.0044	0.0198	0.0195	0.0060	0.0038	0.0221	0.0013	0.0015	0.0211	0.0030	0.0070	0.0207	0.0050	0.0050	0.0051	0.0050	0.0195	0.0047	0.0046	0.0163	0.0151	0.0055	0	0.0060	0.0237	0.0048	0.0013	0.0068	0.0032	0.0043	0.0195	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	2.7	0.00190	N	0.052	0.02366	-1.0067	0.27943	T	0.026	0.11309	T	7	0.0028946996	0.00046	T	.	.	.	0.028	0.06331	.	.	.	.	0.0017261303148033691	0.00159	.	.	0.443860292435	0.31104	T	9.34E-4	0.00486	T	-0.55553	0.00270	T	-0.555162	0.16834	T	0.0160280219121759	0.00383	T	.	.	.	0.038653046	0.05189	0.057588708	0.10494	0.038653046	0.05188	0.057588708	0.10493	-1.817	0.02560	T	.	.	0.030	0.00001	B	.	.	1.212471	0.16058	12.29	0.77735424106533868	0.12000	0.00230	0.01288	N	ALL	0.021629	0.00984	N	-0.803821028253282	0.13212	0.6493035	-0.677257652528533	0.17530	0.9325337	0.999999999999535	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.2	1.31	0.20837	0.171000	0.16497	-0.080000	0.12189	-0.171000	0.11205	0.988000	0.36536	0.544000	0.25431	0.986000	0.61781	0.0:0.5313:0.1739:0.2948	4.061	0.09315	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019656	0.013514	0.012658	0.036036	0.000000	0.000000	0.025000	0.010000	0.05	946.43	38	chr10	87862096	.	T	C	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=385;ExcessHet=0;FS=1.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.779;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1117:.	9	0	1	0
chr10	87862106	87862106	G	C	exonic	KLLN	.	nonsynonymous SNV	KLLN:NM_001126049:exon1:c.C382G:p.R128G	Cowden syndrome 4	407	1086	27	2	0	31	0.0140717	.	.	.	1164372	KLLN-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	.	.	0.00539137	0.0159	0.0005	0.0029	0.0205	0.0312	0.0085	0.0167	0.0396	0.001934	299	154602	rs201652303	0.0042	0.0040	0.0037	0.0047	0.0206	0.0041	0.0041	0.0198	0.0195	0.0007	0.0025	0.0194	0.0013	0.0015	0.0194	0.0028	0.0059	0.0206	0.0032	0.0032	0.0032	0.0032	0.0191	0.0029	0.0029	0.0159	0.0147	0.0007	0	0.0020	0.0225	0.0048	0.0013	0.0068	0.0030	0.0043	0.0191	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-7.0	0.93697	D	0.288	0.32591	-1.0597	0.11830	T	0.080	0.31675	T	7	0.006397873	0.00145	T	.	.	.	0.151	0.39764	.	.	0.364926071151	0.36103	0.0191589379260431	0.01869	.	.	0.452904105186	0.32341	T	0.056345	0.30261	T	-0.234763	0.16023	T	-0.0944025	0.63828	T	0.0864372817327152	0.10789	T	.	.	.	0.55346066	0.70148	0.6603481	0.80101	0.55346066	0.70149	0.6603481	0.80101	-3.337	0.14219	T	.	.	0.233	0.46596	B	.	.	2.612882	0.33937	19.49	0.98646421445873789	0.44123	0.23292	0.22029	N	ALL	0.076716	0.15439	N	-0.13223173202535	0.35992	2.074642	-0.204622698071941	0.31370	1.774679	0.999999999999794	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.31	2.44	0.28875	0.563000	0.23250	1.516000	0.27058	0.676000	0.76740	0.702000	0.28645	0.181000	0.23421	0.934000	0.47231	0.2089:0.0:0.7911:0.0	6.920	0.23565	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016010	0.006579	0.000000	0.027273	0.000000	0.000000	0.032051	0.010638	0.05	878.43	38	chr10	87862106	.	G	C	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=385;ExcessHet=0;FS=3.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.698;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1117:.	9	0	1	0
chr10	88831902	88831902	C	T	exonic	ANKRD22	.	nonsynonymous SNV	ANKRD22:NM_144590:exon2:c.G146A:p.R49K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	.	.	0.00379393	0.0017	0	0	0.0001	0	0	0.0011	0.0125	0.0014942	231	154602	rs199828548	0.0007	0.0007	0.0004	0.0011	0.0117	0.0007	0.0007	0.0111	0.0108	0	0	3.83e-05	5.044e-05	0	0.0005	1.169e-05	0.0008	0.0117	0.0005	0.0005	0.0003	0.0007	0.0151	0.0004	0.0004	0.0123	0.0113	2.407e-05	0	0	0	0	0	0	0	0	0.0151	0.55	0.06585	T	0.504	0.11041	T	0.992	0.64738	D	0.989	0.78396	D	0.000000	0.84330	D	0.048289	0.999914	0.51042	D	0.95	0.23787	L	-0.1	0.64264	T	-0.97	0.25770	N	0.298	0.33687	-0.7873	0.55886	T	0.238	0.60511	T	10	0.0077414513	0.00176	T	.	.	.	0.342	0.66392	0.549	0.66436	0.602748970639	0.59958	0.6768271332785227	0.67621	0.264699697906	0.29017	0.563926935196	0.47822	T	0.001289	0.00766	T	-0.351869	0.04610	T	-0.267181	0.48105	T	0.0567543651731227	0.06647	T	0.729627	0.34527	T	0.32869035	0.55364	0.28161442	0.54144	0.32869035	0.55364	0.28161442	0.54143	-3.255	0.13164	T	.	.	0.285	0.51780	B	.	.	3.365716	0.46485	22.3	0.9503063557062803	0.26025	0.85483	0.44620	D	AEFDGBIJ	0.310979	0.41684	N	0.14580209037527	0.48613	3.071463	0.15647271286442	0.47486	2.978078	0.999999996571427	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	5.33	5.33	0.75683	2.096000	0.41363	7.660000	0.64180	0.599000	0.40250	0.895000	0.31310	0.998000	0.33993	0.255000	0.23391	0.0:1.0:0.0:0.0	16.524	0.84171	767	0.49651	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1138.43	34	chr10	88831902	.	C	T	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.13;DP=447;ExcessHet=0;FS=1.364;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-0.333;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1207	9	0	1	0
chr10	89306689	89306689	G	C	exonic	IFIT2	.	nonsynonymous SNV	IFIT2:NM_001547:exon2:c.G733C:p.G245R	.	421	1064	37	0	0	37	0.0170901	.	.	.	712502	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0055	0.00459265	0.0070	0.0013	0.0044	0.0128	0.0035	0.0084	0.0111	0.0049	0.0070245	1086	154602	rs41284134	0.0068	0.0068	0.0067	0.0069	0.0310	0.0067	0.0066	0.0273	0.0259	0.0025	0.0039	0.0047	0.0113	0.0062	0.0310	0.0070	0.0070	0.0042	0.0055	0.0055	0.0057	0.0052	0.0123	0.0052	0.0050	0.0099	0.0090	0.0019	0.0022	0.0039	0.0023	0.0123	0.0057	0.0204	0.0076	0.0099	0.0033	0.255	0.16848	T	0.209	0.26798	T	0.0	0.02946	B	0.0	0.01387	B	0.440592	0.12632	U	0.678971	1	0.08975	N	0.255	0.09829	N	1.15	0.38236	T	-1.34	0.33401	N	0.122	0.11340	-1.0566	0.12621	T	0.016	0.06711	T	10	0.0033566654	0.00058	T	.	.	.	0.016	0.02506	.	.	0.17258766438	0.16869	0.16177601230667774	0.16098	0.212422641144	0.23743	0.184119105339	0.00138	T	0.036867	0.24264	T	-0.596728	0.00153	T	-0.62054	0.11143	T	0.000261870921775061	0.00002	T	0.0333967	0.00218	T	0.057331856	0.11395	0.044266384	0.05697	0.057331856	0.11395	0.044266384	0.05697	-2.998	0.10159	T	.	.	0.116	0.27553	B	.;.;.	.;.;.	-1.064037	0.00684	0.020	0.65071085912305715	0.07669	0.03715	0.09002	N	AEFGBI	0.079180	0.15988	N	-1.51045435924621	0.01781	0.07800894	-1.58510024626986	0.01746	0.07942316	0.999999679713609	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.58	-6.03	0.02001	-0.942000	0.04031	-4.702000	0.02026	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.1602:0.3556:0.2905:0.1936	2.871	0.05271	818	0.41518	Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain;Tetratricopeptide repeat-containing domain	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023162	0.010101	0.038043	0.035088	0.050000	0.008621	0.012195	0.007576	0.05	2755.43	102	chr10	89306689	.	G	C	2755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.375;DP=769;ExcessHet=0;FS=3.115;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.56;ReadPosRankSum=0.036;SOR=0.98	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:99:.:.:0,120,1800:.	9	0	1	0
chr10	89339709	89339709	G	C	exonic	IFIT3	.	nonsynonymous SNV	IFIT3:NM_001031683:exon2:c.G1054C:p.V352L,IFIT3:NM_001549:exon2:c.G1054C:p.V352L,IFIT3:NM_001289758:exon3:c.G898C:p.V300L,IFIT3:NM_001289759:exon3:c.G898C:p.V300L	.	428	1050	44	0	0	44	0.0205224	.	.	.	712503	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0095	0.00838658	0.0079	0.0120	0.0065	0.0034	0.0035	0.0092	0.0132	0.0044	0.0080659	1247	154602	rs140549288	0.0073	0.0073	0.0072	0.0073	0.0376	0.0072	0.0071	0.0335	0.0319	0.0147	0.0065	0.0082	0.0019	0.0067	0.0376	0.0073	0.0090	0.0039	0.0090	0.0091	0.0095	0.0085	0.0142	0.0086	0.0085	0.0133	0.0129	0.0142	0.0033	0.0064	0.0055	0.0033	0.0058	0.0340	0.0078	0.0137	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.953658	0.08270	N	0.978763	1	0.08975	N	-2.15	0.00138	N	3.12	0.08106	T	1.21	0.01064	N	0.031	0.00770	-0.9382	0.42900	T	0.002	0.00707	T	10	0.0034144819	0.00060	T	.	.	.	0.026	0.05648	.	.	0.151104730317	0.14643	0.05788137922859237	0.05729	0.190880070537	0.21403	0.213487833738	0.00968	T	0.009261	0.08439	T	-0.795479	0.00008	T	-0.904396	0.00472	T	0.00421190610503837	0.00045	T	0.285571	0.05082	T	0.028140498	0.02107	0.03136494	0.01715	0.028140498	0.02107	0.03136494	0.01715	-2.58	0.06352	T	.	.	0.078	0.06942	B	.;.	.;.	-1.019289	0.00744	0.023	0.46844251783305813	0.03783	0.01127	0.04103	N	AEFBCI	0.031552	0.03397	N	-1.70175386471248	0.00836	0.03613641	-1.63272795159315	0.01467	0.06639746	0.146792270760237	0.17372	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.34	-1.5	0.08233	-1.091000	0.03480	-0.914000	0.06944	-0.247000	0.07223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2526:0.2304:0.3221:0.1948	0.842	0.01078	865	0.32612	.;.	IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5|IFIT5	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Thyroid|Whole_Blood	.	.	rs140549288	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.035750	0.045455	0.050272	0.046784	0.050000	0.025862	0.012195	0.011364	0.05	1482.43	33	chr10	89339709	.	G	C	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=499;ExcessHet=0;FS=3.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=0.199;SOR=0.924	GT:AD:DP:GQ:PL	0/0:83,0:83:99:0,120,1800	9	0	1	0
chr10	89403641	89403641	G	C	exonic	IFIT1	.	nonsynonymous SNV	IFIT1:NM_001548:exon2:c.G1366C:p.A456P,IFIT1:NM_001270927:exon3:c.G1366C:p.A456P,IFIT1:NM_001270928:exon3:c.G1273C:p.A425P,IFIT1:NM_001270929:exon3:c.G1273C:p.A425P,IFIT1:NM_001270930:exon3:c.G1273C:p.A425P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.110795725916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	2.873e-05	5.45e-06	0	2.99e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	2.99e-05	0	3.829e-05	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002024	0.37411	U	0.175846	1	0.81001	D	2.83	0.82355	M	-3.5	0.94658	D	-4.64	0.79998	D	0.645	0.65673	0.997	0.97141	D	0.909	0.96996	D	10	0.97418547	0.97121	D	0.110796	0.78832	D	0.826	0.94466	0.899	0.97729	0.985082141014	0.98492	0.8079779210656974	0.80752	0.450892133838	0.44853	0.462060928345	0.33594	T	0.809042	0.95208	D	0.494798	0.94145	D	0.472966	0.94068	D	0.994435429573059	0.85721	D	0.79652	0.44001	T	0.93677735	0.94920	0.82939625	0.90146	0.93677735	0.94920	0.82939625	0.90146	-8.518	0.64548	D	.	.	0.924	0.84509	P	.;.	.;.	4.423042	0.68520	25.2	0.99799447171960343	0.88461	0.97440	0.74764	D	AEFBI	0.901291	0.84780	D	0.673294674577491	0.77881	6.761252	0.556896627571631	0.71877	5.722491	0.992365808123254	0.32813	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.47	5.47	0.80345	4.657000	0.61185	5.071000	0.47178	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.633000	0.32236	0.0787:0.0:0.9213:0.0	12.078	0.52954	883	0.28872	Tetratricopeptide repeat-containing domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	95.05	121	chr10	89403641	.	G	C	95.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.047;DP=729;ExcessHet=0;FS=183.788;InbreedingCoeff=-0.0813;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=2.55;SOR=7.978	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1191	8	0	1	1
chr10	89644750	89644750	G	A	exonic	PANK1	.	nonsynonymous SNV	PANK1:NM_148977:exon1:c.C553T:p.R185W	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.893785236144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216160652	3.661e-06	5.472e-06	2.891e-06	4.451e-06	2.576e-05	1.07e-06	7.8e-07	4.28e-06	1.6e-06	0	0	0	0	0	0	2.8e-06	0	2.576e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.012	0.63918	D	0.004	0.12183	B	0.001	0.04355	B	0.106261	0.19623	N	0.387665	0.746027	0.33875	D	0.805	0.20218	L	-6.33	0.99658	D	-1.32	0.32991	N	0.379	0.42050	0.689	0.93038	D	0.913	0.97126	D	10	0.31367874	0.48816	T	0.893785	0.99196	D	0.272	0.58758	0.309	0.28128	0.935163521025	0.93449	0.32624369723851926	0.32537	1.24120643422	0.81571	0.916227579117	0.98023	D	0.229259	0.59503	T	0.0530311	0.58733	T	-0.161601	0.58208	T	0.549784531775021	0.34469	D	0.70113	0.31087	T	0.18865488	0.40373	0.23153296	0.48288	0.18865488	0.40373	0.23153296	0.48287	-5.084	0.37738	T	.	.	0.108	0.20625	B	.	.	3.698883	0.52748	23.3	0.99864833052154334	0.94276	0.67447	0.33436	D	ALL	0.211764	0.33752	N	-0.522076011348436	0.21367	1.13344	-0.427543650558786	0.24193	1.323438	0.999999989704128	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.22	2.26	0.27418	2.616000	0.46041	4.431000	0.43351	0.590000	0.31872	0.998000	0.41325	1.000000	0.68203	0.438000	0.27627	0.0752:0.1308:0.5248:0.2692	4.728	0.12329	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	301.43	28	chr10	89644750	.	G	A	301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=248;ExcessHet=0;FS=1.574;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.049;SOR=1.27	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	9	0	1	0
chr10	92653698	92653698	A	G	exonic	KIF11	.	nonsynonymous SNV	KIF11:NM_004523:exon22:c.A3073G:p.R1025G	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1423260	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.0401397508432	.	0.000199681	8.239e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs202027907	5.477e-06	5.472e-06	2.725e-06	8.256e-06	0.0002	2.36e-06	1.7e-06	8.201e-05	5.786e-05	0	0	0	0.0002	0	0	8.998e-07	0	0	6.563e-06	6.561e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.004	0.65419	D	0.168	0.30631	T	0.324	0.33106	B	0.185	0.36047	B	0.004880	0.33312	N	0.331135	0.774195	0.29404	N	2.52	0.73523	M	-0.16	0.65378	T	-1.22	0.30964	N	0.715	0.71765	-0.7243	0.59249	T	0.208	0.56676	T	10	0.3986612	0.55410	T	0.04014	0.59207	D	0.126	0.34673	.	.	0.635134566476	0.63214	0.3281732257323457	0.32730	0.640815093969	0.57705	0.421881914139	0.28096	T	0.154952	0.49646	T	-0.108411	0.35030	T	-0.224373	0.52315	T	0.632126450538635	0.37706	D	0.821218	0.48050	T	0.16946702	0.37464	0.1458485	0.34575	0.16946702	0.37464	0.1458485	0.34574	-3.176	0.12190	T	.	.	0.146	0.32251	B	.	.	3.165734	0.42909	21.6	0.9947233016082071	0.66419	0.84145	0.43229	D	AEFBI	0.300698	0.40942	N	-0.0690786495804465	0.38755	2.274708	-0.00269148644967909	0.39594	2.349997	0.108762470296269	0.16591	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.73	1.89	0.24700	2.322000	0.43474	5.252000	0.48096	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.5592:0.4408:0.0:0.0	11.195	0.47939	517	0.74620	Kinesin-associated microtubule-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	915.43	34	chr10	92653698	.	A	G	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.509;DP=381;ExcessHet=0;FS=1.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.36;SOR=0.495	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,921	9	0	1	0
chr10	92692440	92692440	C	G	exonic	HHEX	.	nonsynonymous SNV	HHEX:NM_002729:exon2:c.C434G:p.S145C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.935	0.600572335024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271715312	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.969	0.72001	D	0.000000	0.84330	D	0.053287	0.999999	0.81001	D	2.92	0.84325	M	-4.02	0.96402	D	-3.8	0.71762	D	0.946	0.95374	1.094	0.99422	D	0.957	0.98602	D	10	0.9500323	0.94337	D	0.600572	0.96482	D	0.935	0.98526	0.723	0.85761	0.991401242545	0.99131	0.8535791868771516	0.85319	1.62381522841	0.89106	0.872465968132	0.92919	D	0.983904	0.99888	D	0.505941	0.94463	D	0.488973	0.94384	D	0.993803977966309	0.84761	D	0.955704	0.83186	D	0.52744055	0.68685	0.49245733	0.70642	0.52744055	0.68686	0.49245733	0.70642	-12.926	0.89056	D	.	.	0.948	0.86710	P	.	.	5.249246	0.88127	29.5	0.9933351883535616	0.59895	0.94785	0.62321	D	AEFDBCIJ	0.734514	0.68062	D	0.924673050841191	0.92914	11.70643	0.855795429339588	0.93349	11.98481	0.999999999999637	0.74766	0.627647	0.40530	0	0.706955	0.78570	0	0.666236	0.60216	0	0.657601	0.63696	0	.	.	5.58	5.58	0.84361	3.823000	0.55415	7.724000	0.67448	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.629000	0.32131	0.0:1.0:0.0:0.0	19.563	0.95373	858	0.34001	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1123.43	75	chr10	92692440	.	C	G	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.058;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=0.752;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,949	9	0	1	0
chr10	93579178	93579178	A	G	exonic	FFAR4	.	nonsynonymous SNV	FFAR4:NM_181745:exon3:c.A716G:p.D239G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0137919787355	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1021673956	9.577e-06	9.577e-06	1.089e-05	8.251e-06	0.0005	5.56e-06	4.35e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	9.893e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.509	0.07521	T	0.253	0.23501	T	0.0	0.02946	B	0.0	0.01387	B	0.015602	0.01421	N	2.957200	1	0.08975	N	-0.69	0.01958	N	-0.6	0.71662	T	0.21	0.04776	N	0.174	0.18649	-1.0483	0.14875	T	0.150	0.47804	T	10	0.051296085	0.04988	T	0.013792	0.33457	T	0.061	0.17616	0.408	0.44230	0.195762928549	0.19159	0.5709901508735257	0.57027	0.689680565843	0.60497	0.306136578321	0.11324	T	0.018028	0.14606	T	-0.210242	0.19345	T	-0.539775	0.18318	T	0.055655882618731	0.06466	T	0.355164	0.08047	T	0.0209105	0.00668	0.033022486	0.02131	0.0209105	0.00668	0.033022486	0.02130	.	.	.	.	.	0.109	0.20663	B	.	.	-0.341394	0.02441	0.278	0.56357177541158499	0.05535	0.01269	0.04444	N	AEFDGBHCI	0.036514	0.04877	N	-1.46947084342636	0.02068	0.09094408	-1.55181083327868	0.01964	0.08965596	0.999999970804544	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	-3.95	0.03844	-0.963000	0.03947	-1.139000	0.06214	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2579:0.3444:0.2286:0.169	0.876	0.01147	237	0.90758	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1047.43	34	chr10	93579178	.	A	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.482;DP=440;ExcessHet=0;FS=4.336;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-0.334;SOR=0.738	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr10	94321979	94321979	G	C	exonic	PLCE1	.	nonsynonymous SNV	PLCE1:NM_001165979:exon29:c.G5497C:p.V1833L,PLCE1:NM_001288989:exon30:c.G6373C:p.V2125L,PLCE1:NM_016341:exon30:c.G6421C:p.V2141L	Nephrotic syndrome, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0189235685289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.62352	D	0.78	0.44271	P	0.73	0.55268	P	0.000105	0.50451	D	0.132195	0.999986	0.81001	D	2.63	0.76995	M	1.01	0.41058	T	-2.25	0.52289	N	0.751	0.75009	-0.6717	0.61752	T	0.244	0.61213	T	10	0.5467353	0.64026	D	0.018924	0.41136	T	0.205	0.49236	0.543	0.65589	0.747070109847	0.74478	0.6048592940422401	0.60416	1.26695969164	0.82193	0.633597254753	0.57656	T	0.324846	0.69562	T	0.0042755	0.52243	T	-0.231635	0.51614	T	0.976579189300537	0.71442	D	0.954005	0.82493	D	0.69014084	0.77519	0.7079017	0.82775	0.69014084	0.77521	0.7079017	0.82776	-9.498	0.70846	D	0.738298696403825	0.82029	0.949	0.88272	P	.;.;.	.;.;.	4.423125	0.68520	25.2	0.99781410050862995	0.86780	0.95019	0.63143	D	AEFBCI	0.891921	0.82836	D	0.680198785122773	0.78336	6.850791	0.729936823902677	0.84651	8.351917	0.999992690520154	0.74766	0.460665	0.09802	0	0.577304	0.33150	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.83	5.83	0.93059	7.588000	0.81905	11.837000	0.97708	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.730	0.96172	390	0.83257	Ras-associating (RA) domain|Ras-associating (RA) domain|Ras-associating (RA) domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1066.43	33	chr10	94321979	.	G	C	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.91;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1045	9	0	1	0
chr10	94357327	94357327	G	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.C355G:p.P119A	.	435	1074	12	1	0	14	0.00647549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0293336462056	0.0018	0.000798722	0.0015	0.0006	0.0007	0	0.0006	0.0023	0	0.0009	0.0015459	239	154602	rs45484894	0.0021	0.0021	0.0022	0.0021	0.0025	0.0021	0.0021	0.0024	0.0024	0.0004	0.0013	0.0009	0	0.0004	0.0016	0.0025	0.0022	0.0008	0.0018	0.0018	0.0018	0.0018	0.0035	0.0016	0.0016	0.0027	0.0025	0.0004	0.0241	0.0035	0.0014	0	0.0002	0	0.0026	0.0028	0	0.172	0.22660	T	0.05	0.48080	T	0.997	0.70673	D	0.931	0.66596	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	2.76	0.11515	T	-2.13	0.48354	N	0.464	0.50056	-1.0564	0.12672	T	0.044	0.19111	T	10	0.007900178	0.00179	T	0.029334	0.51865	D	0.186	0.46104	.	.	0.570615151236	0.56727	0.1157346242337762	0.11501	0.381205266977	0.39485	0.527722239494	0.42714	T	0.008842	0.08085	T	-0.408779	0.02025	T	-0.363637	0.37630	T	0.0362242572009563	0.03020	T	0.914509	0.69499	D	0.12627068	0.29579	0.13693327	0.32746	0.12627068	0.29578	0.13693327	0.32745	-4.003	0.23849	T	.	.	0.099	0.16494	B	.	.	3.663444	0.52058	23.2	0.98909315754772842	0.48345	0.99663	0.98459	D	AEFDGBI	0.823444	0.74356	D	0.344724101682489	0.58461	4.018535	0.333513068192767	0.57519	3.918014	0.999999999996242	0.74766	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.16	5.16	0.70563	7.514000	0.80644	8.584000	0.77658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	19.023	0.92900	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001359	0.008824	0.000000	0.000000	0.000000	0.000000	0.05	749.43	40	chr10	94357327	.	G	C	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.369;DP=333;ExcessHet=0;FS=7.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-0.307;SOR=0.164	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	9	0	1	0
chr10	94576686	94576686	A	G	exonic	HELLS	.	nonsynonymous SNV	HELLS:NM_001289073:exon9:c.A499G:p.T167A,HELLS:NM_001289067:exon10:c.A913G:p.T305A,HELLS:NM_001289068:exon10:c.A865G:p.T289A,HELLS:NM_001289069:exon10:c.A913G:p.T305A,HELLS:NM_001289070:exon10:c.A913G:p.T305A,HELLS:NM_001289072:exon10:c.A913G:p.T305A,HELLS:NM_018063:exon10:c.A913G:p.T305A,HELLS:NM_001289071:exon11:c.A541G:p.T181A	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Autosomal recessive	452	1056	14	0	0	14	0.00658514	.	.	.	752336	Immunodeficiency-centromeric_instability-facial_anomalies_syndrome_4|HELLS-related_disorder|not_provided	MONDO:MONDO:0014829,MedGen:C4310798,OMIM:616911,Orphanet:2268|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.168	0.0730283883578	0.0002	.	0.0006	0	0.0004	0	0	0.0006	0.0011	0.0022	0.000511	79	154602	rs200482346	0.0004	0.0004	0.0003	0.0005	0.0038	0.0003	0.0003	0.0028	0.0027	0	0.0002	0.0020	0	0	0.0038	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.812e-05	0	6.539e-05	0.0017	0	0	0.0034	0.0002	0.0005	0.0037	0.201	0.42487	T	0.292	0.25061	T	0.0	0.11197	B	0.004	0.10090	B	0.054652	0.22707	N	0.505809	1	0.81001	D	0.425	0.12573	N	-3.19	0.93170	D	-2.32	0.51478	N	0.087	0.08925	-0.1907	0.77910	T	0.604	0.85928	D	10	0.0170556	0.00362	T	0.073028	0.71685	D	0.168	0.42943	.	.	0.681506863636	0.67879	0.3712274698646387	0.37036	0.636122681632	0.57407	0.325754880905	0.14292	T	0.495773	0.92041	T	-0.390644	0.02664	T	-0.338525	0.40512	T	0.0119638062532283	0.00188	T	0.835416	0.50550	T	0.03720082	0.04723	0.07002862	0.14827	0.040155202	0.05680	0.05558333	0.09775	-5.179	0.38728	T	.	.	0.072	0.27821	B	.;.;.;.;.	.;.;.;.;.	1.849838	0.23498	16.04	0.96561619739867388	0.30261	0.23141	0.21979	N	AEFBCI	0.065498	0.12778	N	-0.551460998804747	0.20438	1.077405	-0.456556647763463	0.23363	1.273679	1.05620275344309E-4	0.05123	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.91	2.16	0.26663	0.907000	0.28154	4.591000	0.43958	0.756000	0.94297	0.040000	0.20979	1.000000	0.68203	0.995000	0.73285	0.7358:0.0:0.2642:0.0	7.595	0.27209	583	0.69484	SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;SNF2-related, N-terminal domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006048	0.000000	0.004076	0.020468	0.000000	0.008621	0.003067	0.000000	0.05	827.43	42	chr10	94576686	.	A	G	827.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.03;DP=413;ExcessHet=0;FS=0.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=1.29;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	9	0	1	0
chr10	95037276	95037276	C	T	exonic	CYP2C8	.	nonsynonymous SNV	CYP2C8:NM_001198854:exon8:c.G1019A:p.R340H,CYP2C8:NM_000770:exon9:c.G1325A:p.R442H,CYP2C8:NM_001198853:exon9:c.G1115A:p.R372H,CYP2C8:NM_001198855:exon10:c.G1115A:p.R372H	Rhabdomyolysis, cerivastatin-induced (3)	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.0205863676681	7.7e-05	.	1.687e-05	0	0	0	0	3.07e-05	0	0	1.29e-05	2	154602	rs138495387	7.254e-05	7.251e-05	7.081e-05	7.429e-05	0.0004	6.116e-05	5.702e-05	6.873e-05	6.37e-05	2.988e-05	0	0	2.52e-05	0	0.0004	8.275e-05	0.0001	2.32e-05	5.259e-05	5.254e-05	8.997e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0	0.013	0.53900	D	0.015	0.61642	D	0.994	0.66517	D	0.675	0.53279	P	0.000001	0.62929	U	0.000000	0.682358	0.33246	D	3.76	0.95097	H	-0.49	0.70365	T	-4.09	0.74900	D	0.417	0.45709	-0.1928	0.77857	T	0.429	0.77160	T	10	0.6035336	0.67046	D	0.020586	0.43215	T	0.506	0.78724	.	.	0.801223087649	0.79936	0.21162112535075858	0.21078	0.0808308102781	0.09095	0.328026235104	0.14636	T	0.305722	0.67796	T	-0.0864423	0.38660	T	-0.176041	0.56888	T	0.97418200969696	0.70403	D	0.705629	0.31596	T	0.49424413	0.66755	0.3376259	0.59551	0.49424413	0.66756	0.3376259	0.59550	-9.195	0.68943	D	.	.	0.381	0.58475	A	.;.;.;.	.;.;.;.	3.363430	0.46445	22.3	0.99892627087801411	0.96666	0.45044	0.27451	N	AEFI	0.628884	0.61080	D	0.181044580007076	0.50290	3.220379	-0.0026737251584911	0.39596	2.350063	6.55972864254984E-5	0.04366	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.9	1.97	0.25278	2.166000	0.42032	.	.	0.546000	0.25710	0.023000	0.19925	0.000000	0.08366	0.111000	0.18785	0.19:0.7028:0.0:0.1072	6.163	0.19592	777	0.48198	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	454.43	39	chr10	95037276	.	C	T	454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=317;ExcessHet=0;FS=2.795;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=1.89;SOR=0.354	GT:AD:DP:GQ:PL	0/0:16,0:16:42:0,42,630	9	0	1	0
chr10	95356476	95356476	C	T	exonic	SORBS1	.	nonsynonymous SNV	SORBS1:NM_001384447:exon19:c.G2089A:p.A697T,SORBS1:NM_001384448:exon19:c.G2128A:p.A710T,SORBS1:NM_001384450:exon19:c.G2089A:p.A697T,SORBS1:NM_001384451:exon19:c.G2089A:p.A697T,SORBS1:NM_001384449:exon20:c.G2155A:p.A719T,SORBS1:NM_001384452:exon20:c.G2155A:p.A719T,SORBS1:NM_001384453:exon20:c.G2155A:p.A719T,SORBS1:NM_001384454:exon21:c.G2155A:p.A719T	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	.	.	0.000599042	0.0052	0.0011	0	0	0	0.0156	0	0.0001	0.0009444	146	154602	rs192403783	0.0030	0.0029	0.0030	0.0030	0.0027	0.0029	0.0029	0.0026	0.0026	0.0003	0.0011	0.0348	0	0.0004	0.0019	0.0027	0.0045	0.0001	0.0022	0.0022	0.0023	0.0021	0.0025	0.0020	0.0019	0.0022	0.0021	0.0004	0	0.0006	0.0372	0	0.0004	0	0.0025	0.0038	0	.	.	.	0.145	0.33000	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.435	0.47395	-0.2053	0.77533	T	0.426	0.76936	T	5	0.007196933	0.00164	T	.	.	.	.	.	.	.	0.563505421885	0.56014	.	.	.	.	.	.	.	.	.	.	-0.206713	0.19845	T	-0.0740093	0.65339	T	0.0855544357298228	0.10682	T	0.818818	0.47619	T	.	.	.	.	.	.	.	.	-10.304	0.75711	D	.	.	0.742	0.74727	P	.	.	3.710848	0.52979	23.3	0.99897422999408003	0.96971	0.98913	0.88541	D	AEFDBI	0.901390	0.84802	D	0.363871612560957	0.59477	4.127308	0.404821135336667	0.61864	4.392677	0.999999999999997	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.063000	0.76410	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	19.712	0.96094	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2730.43	44	chr10	95356476	.	C	T	2730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.224;DP=581;ExcessHet=0;FS=1.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-0.563;SOR=0.585	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr10	95394667	95394667	T	C	exonic	SORBS1	.	nonsynonymous SNV	SORBS1:NM_001034954:exon13:c.A1304G:p.N435S,SORBS1:NM_001290298:exon13:c.A908G:p.N303S,SORBS1:NM_001384465:exon13:c.A908G:p.N303S,SORBS1:NM_001384459:exon14:c.A935G:p.N312S	.	414	1096	12	0	0	12	0.00544465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00659679840932	0.0033	0.00139776	0.0030	0.0007	0.0026	0	0.0012	0.0043	0.0033	0.0019	0.0029236	452	154602	rs147078270	0.0035	0.0036	0.0035	0.0035	0.0113	0.0034	0.0034	0.0091	0.0083	0.0003	0.0018	0.0117	0	0.0008	0.0113	0.0038	0.0032	0.0021	0.0026	0.0026	0.0028	0.0025	0.0040	0.0024	0.0023	0.0036	0.0034	0.0008	0	0.0022	0.0101	0	0.0004	0.0034	0.0040	0.0043	0.0023	0.173	0.22573	T	0.701	0.05707	T	0.002	0.09854	B	0.004	0.10090	B	0.000382	0.44960	D	0.000000	1	0.81001	D	1.39	0.34934	L	3.16	0.07711	T	-1.21	0.30762	N	0.125	0.21580	-0.9336	0.43605	T	0.011	0.03996	T	10	0.0046735406	0.00098	T	0.006597	0.17415	T	0.104	0.29647	.	.	0.374076547971	0.37021	0.19694114752873415	0.19611	0.149610788951	0.16869	0.348650872707	0.17724	T	0.115101	0.43343	T	-0.651914	0.00070	T	-0.706871	0.05458	T	0.0113779871061898	0.00170	T	0.838016	0.51077	T	0.05432028	0.10405	0.107875235	0.25976	0.05432028	0.10404	0.107875235	0.25975	-6.346	0.49086	T	.	.	0.111	0.22428	B	.;.	.;.	1.467754	0.18910	13.99	0.9284714388823081	0.22385	0.74518	0.36455	D	AEFDGBCIJ	0.315370	0.41996	N	-0.655626110128228	0.17297	0.888821	-0.454672349549036	0.23416	1.27689	0.999988455012172	0.51787	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	6.06	0.67	0.17092	1.404000	0.34232	.	.	0.665000	0.62972	1.000000	0.71638	0.909000	0.28100	1.000000	0.97212	0.0:0.2113:0.1197:0.669	6.401	0.20839	803	0.44167	SoHo domain;SoHo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009073	0.005051	0.009511	0.014620	0.000000	0.025862	0.003067	0.007576	0.05	1235.43	35	chr10	95394667	.	T	C	1235.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=470;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-1.044;SOR=0.77	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1192	9	0	1	0
chr10	95755766	95755766	G	A	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001164178:exon1:c.G52A:p.E18K,ENTPD1:NM_001320916:exon1:c.G52A:p.E18K	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	538416	Hereditary_spastic_paraplegia_64|not_provided	MONDO:MONDO:0014303,MedGen:C3810289,OMIM:615683,Orphanet:401810|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	0.0028	0.00119808	0.0012	0.0011	0.0033	0	0	0.0020	0.0060	0.0004	0.0008732	135	154602	rs192954755	0.0062	0.0059	0.0063	0.0060	0.0068	0.0061	0.0060	0.0067	0.0066	0.0009	0.0012	7.943e-05	0	0.0209	0	0.0068	0.0060	0.0003	0.0048	0.0048	0.0038	0.0058	0.0048	0.0045	0.0044	0.0044	0.0042	0.0011	0	0.0020	0	0	0.0306	0	0.0048	0.0019	0	0.072	0.34982	T	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	0.999981	0.54805	D	.	.	.	2.87	0.10386	T	-0.73	0.20576	N	0.201	0.22228	-1.0359	0.18575	T	0.007	0.02598	T	9	0.003439933	0.00060	T	0.006677	0.17642	T	0.031	0.07369	.	.	0.134007934775	0.12933	0.3627086941746018	0.36184	0.180234907594	0.20274	0.331692218781	0.15190	T	.	.	.	-0.543627	0.00319	T	-0.545698	0.17742	T	0.00582524276549044	0.00064	T	0.422258	0.11242	T	.	.	.	.	.	.	.	.	-3.46	0.15876	T	.	.	0.097	0.15698	B	.	.	1.189393	0.15807	12.12	0.99400666527732939	0.62794	0.15165	0.18777	N	AEFDGBHCI	0.088424	0.17926	N	-0.604526892691706	0.18807	0.979409	-0.602484842401862	0.19428	1.042358	0.999999999988493	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.404113	0.06833	1	.	.	3.93	3.03	0.34070	1.330000	0.33387	.	.	0.596000	0.33519	0.817000	0.29947	1.000000	0.68203	0.119000	0.19126	0.1167:0.0:0.8833:0.0	7.416	0.26217	747	0.52260	.	.	.	.	.	rs192954755	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002747	0.000000	0.000000	0.008929	0.000000	0.000000	0.000000	0.000000	0.05	976.43	87	chr10	95755766	.	G	A	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=402;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=1.01;SOR=0.764	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1216	9	0	1	0
chr10	95974133	95974133	A	C	exonic	CC2D2B	.	nonsynonymous SNV	CC2D2B:NM_001349008:exon17:c.A1920C:p.Q640H	.	573	947	2	0	0	2	0.00105485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0026	0	0	0	0	0.0022	0	0.0179	0.0005563	86	154602	rs190166673	0.0046	0.0035	0.0047	0.0045	0.0065	0.0045	0.0045	0.0056	0.0053	0.0005	0.0007	0.0001	0	0.0043	0.0031	0.0049	0.0063	0.0065	0.0031	0.0031	0.0031	0.0030	0.0058	0.0029	0.0028	0.0042	0.0040	0.0008	0.0022	0.0026	0	0	0.0049	0	0.0046	0.0005	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010562688	0.00234	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.326676	0.06366	T	-0.240933	0.50707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.467864	0.18916	13.99	0.59320014925695674	0.06197	0.72752	0.35600	D	AEFBI	0.237649	0.35990	N	.	.	.	.	.	.	1.78516359152184E-5	0.02871	0.078448	0.01964	0	0.097471	0.02872	0	0.063197	0.01477	0	0.058706	0.01089	0	.	.	5.91	4.06	0.46572	1.298000	0.33017	.	.	-0.679000	0.04243	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.2286:0.0:0.7714:0.0	8.899	0.34641	670	0.60992	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1293.43	66	chr10	95974133	.	A	C	1293.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=505;ExcessHet=0;FS=0.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.038;SOR=0.781	GT:AD:DP:GQ:PL	0/1:58,53:111:99:1305,0,1406	9	0	1	0
chr10	96157338	96157338	G	A	exonic	ZNF518A	.	nonsynonymous SNV	ZNF518A:NM_001278525:exon6:c.G1016A:p.R339K,ZNF518A:NM_001330732:exon6:c.G1016A:p.R339K,ZNF518A:NM_001330735:exon6:c.G1016A:p.R339K,ZNF518A:NM_001330736:exon6:c.G1016A:p.R339K,ZNF518A:NM_014803:exon6:c.G1016A:p.R339K,ZNF518A:NM_001278524:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330733:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330734:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330737:exon7:c.G1016A:p.R339K,ZNF518A:NM_001330738:exon7:c.G1016A:p.R339K	.	429	1088	5	0	0	5	0.00229253	.	.	.	2717011	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	8.4e-05	0.000599042	0.0002	0	0.0001	0.0003	0	6.873e-05	0	0.0011	0.000194	30	154602	rs188872865	0.0001	0.0001	9.272e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	4.533e-05	0	0	0	0.0014	4.323e-05	0.0001	0.0016	9.194e-05	9.187e-05	5.14e-05	0.0001	0.0010	5.525e-05	4.362e-05	0.0004	0.0003	0	0	6.54e-05	0	0.0004	0	0.0034	5.882e-05	0.0005	0.0010	.	.	.	0.985	0.02393	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	.	.	.	1.87	0.49600	L	.	.	.	.	.	.	0.05	0.02179	.	.	.	.	.	.	.	0.0064787567	0.00147	T	.	.	.	.	.	.	.	0.115124310173	0.11017	0.12027581564253458	0.11954	.	.	0.245744362473	0.03333	T	0.00604	0.05478	T	-0.399745	0.02324	T	-0.387516	0.34843	T	.	.	.	0.533947	0.17813	T	0.04657938	0.07821	0.16810313	0.38745	0.04657938	0.07820	0.16810313	0.38744	-1.763	0.02401	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	-0.098380	0.03650	0.730	0.74801978430640648	0.10832	0.10501	0.15990	N	AEFGBI	.	.	.	.	.	.	.	.	.	7.13287846729681E-4	0.07685	0.295142	0.05270	0	0.30413	0.05452	0	0.231597	0.04857	0	0.221052	0.04502	0	0.162992	0.28318	5.93	1.37	0.21200	-0.049000	0.11879	0.458000	0.18589	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.943000	0.48514	0.4404:0.0:0.5596:0.0	8.831	0.34239	517	0.74620	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	1735.43	33	chr10	96157338	.	G	A	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.064;SOR=0.662	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr10	96223879	96223879	C	A	exonic	BLNK	.	nonsynonymous SNV	BLNK:NM_001114094:exon6:c.G472T:p.A158S,BLNK:NM_001258440:exon6:c.G472T:p.A158S,BLNK:NM_001258441:exon6:c.G472T:p.A158S,BLNK:NM_013314:exon6:c.G472T:p.A158S	Agammaglobulinemia 4, Autosomal recessive	6	1478	36	2	0	40	0.0133511	.	.	.	247049	BLNK-related_disorder|not_provided|not_specified|Agammaglobulinemia_4,_autosomal_recessive	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013289,MedGen:C3150752,OMIM:613502	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0055	0.00299521	0.0055	0.0009	0.0053	0	0.0088	0.0072	0.0110	0.0030	0.005388	833	154602	rs148612299	0.0052	0.0052	0.0050	0.0053	0.0167	0.0051	0.0050	0.0139	0.0129	0.0014	0.0077	0.0353	0	0.0054	0.0167	0.0047	0.0063	0.0033	0.0049	0.0049	0.0047	0.0052	0.0063	0.0046	0.0045	0.0053	0.0049	0.0010	0.0242	0.0063	0.0381	0	0.0083	0.0442	0.0049	0.0081	0.0010	0.552	0.07670	T	0.558	0.10714	T	0.0	0.07471	B	0.003	0.12992	B	0.830031	0.06936	N	1.065940	0.999994	0.08975	N	-0.595	0.02246	N	.	.	.	-0.71	0.20145	N	0.028	0.00618	-0.9360	0.43241	T	0.017	0.06998	T	9	0.002996534	0.00049	T	.	.	.	0.032	0.07718	.	.	0.209943299407	0.20609	0.1276476982693638	0.12690	0.292084130396	0.31614	0.303299188614	0.10895	T	0.296826	0.66944	T	-0.696312	0.00038	T	-0.769115	0.02797	T	0.00258914784501353	0.00027	T	0.531447	0.20104	T	0.038961124	0.05288	0.0503065	0.07868	0.0410187	0.05964	0.04487523	0.05910	-2.947	0.09999	T	.	.	0.065	0.02173	B	.;.;.	.;.;.	-0.616050	0.01528	0.098	0.4530442580867925	0.03546	0.00649	0.02827	N	AEFDBI	0.036936	0.04999	N	-1.70080143896076	0.00839	0.03628185	-1.68879537062121	0.01188	0.0534534	0.936619302429418	0.27262	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.49	-6.93	0.01480	-0.429000	0.07051	-0.222000	0.10754	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.1491:0.6322:0.2187:0.0	11.9	0.51959	476	0.77720	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015121	0.015152	0.023098	0.008772	0.000000	0.017241	0.015337	0.011364	0.05	1251.43	37	chr10	96223879	.	C	A	1251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.469;DP=443;ExcessHet=0;FS=0.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.21;SOR=0.618	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	9	0	1	0
chr10	96620549	96620549	C	T	exonic	PIK3AP1	.	nonsynonymous SNV	PIK3AP1:NM_152309:exon12:c.G1744A:p.V582I	.	.	.	.	.	.	.	.	.	.	.	525639	Infantile_spasms|not_specified	Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.132	0.0198578127881	.	0.000199681	4.213e-05	0	0	0.0002	0	3.066e-05	0	6.115e-05	3.88e-05	6	154602	rs201358424	5.616e-05	5.678e-05	6.268e-05	4.956e-05	0.0006	4.615e-05	4.241e-05	0.0004	0.0003	5.981e-05	2.236e-05	0	0.0006	0	0	4.677e-05	4.979e-05	2.321e-05	6.568e-05	6.562e-05	6.425e-05	6.718e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0002	7.222e-05	0	0	0	0.0010	0	0	1.47e-05	0	0.0002	0.064	0.59928	T	0.132	0.41913	T	0.998	0.77913	D	0.801	0.62632	P	0.013611	0.28787	N	0.353469	0.999985	0.58761	D	1.995	0.54099	M	0.83	0.47815	T	-0.6	0.22727	N	0.209	0.24260	-0.8555	0.51584	T	0.197	0.55229	T	10	0.08286765	0.13724	T	0.019858	0.42327	T	0.132	0.35948	.	.	0.408277909041	0.40440	0.2306900144824461	0.22984	0.597579573787	0.54949	0.428688108921	0.29029	T	0.247555	0.61721	T	-0.388985	0.02731	T	-0.389302	0.34632	T	0.14936032838187	0.17052	T	0.805819	0.45382	T	0.08003071	0.18315	0.06855335	0.14330	0.08003071	0.18315	0.06855335	0.14330	-4.409	0.29679	T	.	.	0.09	0.24833	B	.;.;.	.;.;.	3.524784	0.49421	22.8	0.99620702087429958	0.75413	0.89611	0.50186	D	AEFBCI	0.721901	0.67200	D	0.313657143307133	0.56849	3.850385	0.274298323795183	0.54044	3.570592	0.999999823039008	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.48	4.58	0.56077	5.108000	0.64447	5.955000	0.51719	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.269000	0.23743	0.0:0.9234:0.0:0.0766	13.106	0.58663	580	0.69689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	761.43	36	chr10	96620549	.	C	T	761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.92;ReadPosRankSum=-0.504;SOR=0.527	GT:AD:DP:GQ:PL	0/0:28,0:28:54:0,54,810	9	0	1	0
chr10	96623514	96623514	G	A	exonic	PIK3AP1	.	nonsynonymous SNV	PIK3AP1:NM_152309:exon11:c.C1693T:p.R565W	.	438	1079	5	0	0	5	0.0023116	.	.	.	692911	Infantile_spasms	Human_Phenotype_Ontology:HP:0012469,MedGen:C3887898	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.028576938796	.	0.000199681	0.0003	0	8.645e-05	0	0	2.999e-05	0.0011	0.0017	0.0002199	34	154602	rs534613715	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0017	0.0016	2.992e-05	0	0	0	0	0.0012	0.0002	0.0002	0.0019	0.0001	0.0001	7.712e-05	0.0002	0.0023	9.148e-05	7.703e-05	0.0013	0.0010	9.63e-05	0	0	0	0	0	0	8.823e-05	0	0.0023	0.001	0.91255	D	0.007	0.72224	D	0.999	0.90584	D	0.781	0.63631	P	0.014501	0.28512	N	0.344140	0.613328	0.30842	N	2.36	0.67893	M	2.73	0.26885	T	-4.31	0.81910	D	0.342	0.40565	-0.8193	0.53978	T	0.120	0.41929	T	10	0.023924619	0.00641	T	0.028577	0.51232	D	0.112	0.31546	.	.	0.305926609036	0.30200	0.39452051364967033	0.39367	1.48383401815	0.86761	0.363538324833	0.19899	T	0.622986	0.88210	D	-0.359604	0.04152	T	-0.296587	0.45085	T	0.17279497083329	0.18768	T	0.937606	0.76517	D	0.2117713	0.43511	0.29478866	0.55510	0.2117713	0.43511	0.29478866	0.55509	-6.917	0.53639	T	.	.	0.121	0.33481	B	.;.;.	.;.;.	4.681451	0.74923	26.2	0.99919163140327605	0.98654	0.78057	0.38456	D	AEFBI	0.556189	0.56632	D	0.419245068580918	0.62481	4.464696	0.389217231738397	0.60899	4.282919	0.960218740911834	0.28475	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	5.59	3.61	0.40494	2.474000	0.44812	2.717000	0.34282	0.618000	0.50648	0.980000	0.35271	0.189000	0.23482	0.997000	0.79791	0.0:0.0:0.576:0.4239	12.613	0.55917	580	0.69689	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.007576	0.05	802.43	33	chr10	96623514	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.044;DP=407;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.481;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	9	0	1	0
chr10	96981449	96981449	G	A	exonic	LCOR	.	nonsynonymous SNV	LCOR:NM_001346516:exon8:c.G989A:p.S330N	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00542308896859	0.0002	.	0.0001	0	0.0002	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs201530736	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0	0.0001	0.0020	0	0	0.0003	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	8.167e-05	6.724e-05	7.909e-05	5.994e-05	0	0	6.54e-05	0.0017	0	0	0	0.0001	0.0005	0.0002	0.148	0.24857	T	0.39	0.15506	T	.	.	.	.	.	.	0.037095	0.24443	N	0.342011	0.999444	0.21182	N	.	.	.	2.95	0.09635	T	-0.9	0.24244	N	0.085	0.06190	-0.9827	0.34375	T	0.016	0.06425	T	10	0.023285866	0.00605	T	0.005423	0.13923	T	0.042	0.11227	.	.	0.043077524339	0.03247	0.03921790935150463	0.03867	0.161698305148	0.18250	.	.	.	.	.	.	-0.517971	0.00452	T	-0.689657	0.06409	T	0.0212710683583794	0.00829	T	0.534647	0.17878	T	.	.	.	.	.	.	.	.	-4.26	0.27612	T	.	.	0.086	0.10931	B	.;.	.;.	1.084044	0.14671	11.23	0.86338710904617955	0.16469	0.80121	0.39844	D	AEFBI	0.075431	0.15147	N	-0.57221736195909	0.19793	1.038637	-0.462607931344644	0.23191	1.263495	0.0542962964404255	0.14968	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.33	0.095	0.13793	0.605000	0.23876	0.170000	0.15507	-0.168000	0.11412	0.956000	0.33378	0.019000	0.20708	0.672000	0.33309	0.2045:0.3825:0.413:0.0	6.648	0.22138	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1903.43	34	chr10	96981449	.	G	A	1903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.339;DP=459;ExcessHet=0;FS=8.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-1.085;SOR=1.072	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	9	0	1	0
chr10	97319541	97319541	C	A	exonic	FRAT1	.	nonsynonymous SNV	FRAT1:NM_005479:exon1:c.C88A:p.Q30K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.819805603404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.048	0.48594	D	0.945	0.53279	P	0.579	0.50152	P	0.000018	0.62929	U	0.000000	0.694501	0.33360	D	2.61	0.76335	M	.	.	.	-2.78	0.58896	D	0.325	0.36569	-0.4599	0.70071	T	0.191	0.54301	T	9	0.7288216	0.74157	D	0.819806	0.98598	D	0.209	0.49871	0.75	0.88071	0.192905019026	0.18896	0.17102459773913214	0.17022	2.57827802418	0.98043	0.8554007411	0.90428	D	0.623109	0.88216	D	0.0553173	0.59023	T	-0.158317	0.58503	T	0.964189529418945	0.66881	D	0.827917	0.49191	T	0.6315065	0.74379	0.58353186	0.75853	0.6315065	0.74380	0.58353186	0.75854	-4.544	0.31460	T	.	.	0.311	0.53861	B	.	.	3.388143	0.46898	22.4	0.99254202524820223	0.56989	0.94544	0.61510	D	AEFDGBHCI	0.556391	0.56644	D	0.337963303014677	0.58108	3.981163	0.276407321845783	0.54163	3.582339	0.999999999990073	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.01	3.01	0.33872	5.238000	0.65190	3.989000	0.40972	0.442000	0.21104	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	11.801	0.51400	734	0.53889	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	995.43	35	chr10	97319541	.	C	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.43;ReadPosRankSum=-0.832;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,909:.	9	0	1	0
chr10	97319674	97319674	C	T	exonic	FRAT1	.	nonsynonymous SNV	FRAT1:NM_005479:exon1:c.C221T:p.P74L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.862752119014	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343682924	9.661e-07	1.368e-06	1.831e-06	0	1.121e-06	0	0	.	.	0	0	0	0	0	0	1.121e-06	0	0	6.687e-06	6.582e-06	0	1.371e-05	2.432e-05	0	0	.	.	2.432e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.142	0.33330	T	0.004	0.12183	B	0.003	0.08700	B	0.081512	0.20861	U	0.372474	0.959667	0.38139	D	2.395	0.69210	M	.	.	.	-1.99	0.45949	N	0.09	0.06854	-1.0114	0.26478	T	0.128	0.43564	T	9	0.22880891	0.39794	T	0.862752	0.98947	D	0.022	0.04323	0.523	0.62668	0.361958692863	0.35806	0.13345795935908836	0.13269	1.16437380331	0.79574	0.808966517448	0.83334	D	0.400096	0.75776	T	-0.216699	0.18445	T	-0.549049	0.17418	T	0.312675297260284	0.25523	T	0.539746	0.18256	T	0.071121365	0.15721	0.062873445	0.12368	0.071121365	0.15721	0.062873445	0.12368	-4.605	0.32234	T	.	.	0.124	0.26232	B	.	.	1.689009	0.21521	15.24	0.99670074457576863	0.78523	0.06365	0.12366	N	AEFDGBHCI	0.033058	0.03850	N	-0.841860823553425	0.12250	0.5960118	-0.911314467503411	0.11827	0.6049015	0.999997659249728	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.606884	0.38211	0	0.621717	0.48901	0	.	.	3.01	-0.116	0.12895	-1.287000	0.02893	.	.	0.431000	0.20936	0.000000	0.06391	.	.	0.027000	0.12703	0.2191:0.5469:0.0:0.234	3.006	0.05663	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	208.45	16	chr10	97319674	.	C	T	208.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.473;DP=127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0546;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.95;ReadPosRankSum=-0.381;SOR=0.293	GT:AD:DP:GQ:PL	0/0:13,0:13:36:0,36,540	9	0	1	0
chr10	97334484	97334484	T	C	exonic	FRAT2	.	nonsynonymous SNV	FRAT2:NM_012083:exon1:c.A89G:p.Q30R	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.528424917247	.	.	8.122e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs748305085	1.342e-05	1.573e-05	5.883e-06	2.116e-05	3.971e-05	8.39e-06	6.92e-06	1.055e-05	6.74e-06	0	0	0	0	0	0	1.417e-05	0	3.971e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.086	0.40909	T	0.992	0.64738	D	0.84	0.60170	P	0.000014	0.62929	U	0.000000	0.563776	0.32235	D	2.65	0.77586	M	.	.	.	-2.68	0.57275	D	0.214	0.23884	-0.3391	0.73870	T	0.263	0.63458	T	9	0.4654104	0.59539	T	0.528425	0.95552	D	0.191	0.46948	0.703	0.83962	0.110392049598	0.10638	0.12289492868711116	0.12215	2.11051116609	0.94935	0.887965917587	0.95004	D	0.34461	0.71310	T	-0.0149757	0.49565	T	-0.259288	0.48895	T	0.927552103996277	0.59048	D	0.652935	0.26315	T	0.3780947	0.59178	0.31148502	0.57155	0.3780947	0.59179	0.31148502	0.57154	-2.747	0.07706	T	.	.	0.292	0.52326	B	.	.	3.797264	0.54692	23.5	0.99700662117402428	0.80591	0.87718	0.47352	D	ALL	0.228563	0.35222	N	0.32259727751252	0.57309	3.897874	0.239552862423394	0.52057	3.383241	0.999999999998071	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.492483	0.08430	1	.	.	3.69	3.69	0.41483	1.545000	0.35775	1.698000	0.28113	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	10.583	0.44459	514	0.74853	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	534.43	33	chr10	97334484	.	T	C	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.314;DP=379;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.72;MQRankSum=0;QD=8.35;ReadPosRankSum=-0.957;SOR=1.019	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr10	97751437	97751437	A	G	exonic	ZFYVE27	.	nonsynonymous SNV	ZFYVE27:NM_001174122:exon5:c.A497G:p.D166G,ZFYVE27:NM_001174120:exon6:c.A593G:p.D198G,ZFYVE27:NM_001174121:exon6:c.A572G:p.D191G,ZFYVE27:NM_001002261:exon7:c.A866G:p.D289G,ZFYVE27:NM_001174119:exon7:c.A755G:p.D252G,ZFYVE27:NM_001002262:exon8:c.A851G:p.D284G,ZFYVE27:NM_144588:exon8:c.A851G:p.D284G	Spastic paraplegia 33, autosomal dominant, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2251047	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0467174990829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.157e-06	6.156e-06	8.169e-06	4.126e-06	8.095e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	0.42	0.56937	T	-3.96	0.74193	D	0.784	0.84090	-0.5863	0.65368	T	0.252	0.62166	T	10	0.51450616	0.62288	D	0.046717	0.62587	D	0.420	0.72930	0.165	0.06955	0.541920164434	0.53844	0.4258647927336751	0.42503	.	.	0.737482905388	0.72602	T	0.166947	0.51339	T	0.14198	0.68513	D	-0.0338326	0.68114	D	0.994542062282562	0.85897	D	0.978802	0.95770	D	0.7696153	0.82024	0.71766096	0.83333	0.7696153	0.82026	0.71766096	0.83334	-5.804	0.46138	T	.	.	0.572	0.73062	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.860620	0.93854	33	0.99858508282735281	0.93729	0.99125	0.91593	D	AEFBI	0.927122	0.90928	D	0.651746746151687	0.76482	6.494674	0.676479236351433	0.80595	7.334211	0.999973804840649	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.249000	0.89773	11.292000	0.92056	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.690	0.77204	493	0.76500	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1412.43	36	chr10	97751437	.	A	G	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=455;ExcessHet=0;FS=3.051;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.616;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1305	9	0	1	0
chr10	97895317	97895317	C	A	exonic	CRTAC1	.	nonsynonymous SNV	CRTAC1:NM_001206528:exon11:c.G1414T:p.A472S,CRTAC1:NM_018058:exon11:c.G1414T:p.A472S	.	417	1082	22	1	0	24	0.0109689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0292737829437	0.0002	0.000998403	0.0010	0	8.658e-05	0	0	0.0003	0	0.0058	0.0008732	135	154602	rs373229534	0.0005	0.0005	0.0003	0.0007	0.0053	0.0005	0.0005	0.0049	0.0047	5.974e-05	0.0005	0	0	1.88e-05	0.0050	0.0002	0.0007	0.0053	0.0003	0.0003	0.0002	0.0005	0.0033	0.0003	0.0002	0.0021	0.0017	2.406e-05	0	0.0014	0	0	0	0.0034	0.0001	0.0009	0.0033	0.395	0.10802	T	0.501	0.14369	T	0.044	0.24313	B	0.046	0.24676	B	0.013833	0.28718	N	0.357874	0.985971	0.40362	D	0.965	0.23975	L	1.49	0.73311	T	-0.53	0.17417	N	0.378	0.41952	-0.7790	0.56359	T	0.236	0.60319	T	10	0.008894533	0.00201	T	0.029274	0.51816	D	0.072	0.21020	.	.	0.746838286554	0.74455	0.37447943079797663	0.37361	0.325946002528	0.34745	0.531042456627	0.43182	T	0.008659	0.32132	T	-0.397161	0.02417	T	-0.341766	0.40145	T	0.0158794308035071	0.00374	T	0.933407	0.75038	D	0.114148535	0.26951	0.085550085	0.19762	0.114148535	0.26951	0.085550085	0.19761	-7.464	0.57357	T	.	.	0.144	0.31633	B	.;.;.;.	.;.;.;.	3.251371	0.44425	21.9	0.98195935201160278	0.39079	0.92103	0.54951	D	AEFBI	0.524536	0.54768	D	-0.270118696518348	0.30308	1.688701	-0.0665580598771581	0.36781	2.145019	0.999962242330755	0.48965	0.653281	0.48532	0	0.59043	0.45803	0	0.602189	0.34648	0	0.669	0.65921	0	.	.	5.06	5.06	0.67838	1.501000	0.35301	7.609000	0.61840	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.016	0.89164	252	0.90114	ASPIC/UnbV;ASPIC/UnbV;.;ASPIC/UnbV	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1329.43	34	chr10	97895317	.	C	A	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=469;ExcessHet=0;FS=8.956;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.067;SOR=1.364	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	9	0	1	0
chr10	98252462	98252462	G	T	exonic	LOXL4	.	stopgain	LOXL4:NM_032211:exon12:c.C1842A:p.Y614X	.	411	1100	11	0	0	11	0.00497512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000599042	0.0005	0	0	0	0	7.512e-05	0	0.0035	0.0004334	67	154602	rs140271302	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	4.474e-05	0	0	0	0.0014	4.145e-05	0.0003	0.0027	7.223e-05	7.218e-05	2.57e-05	0.0001	0.0017	3.968e-05	3.125e-05	0.0008	0.0006	2.407e-05	0	0	0	0	0	0	2.94e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.886	0.88466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182403	0.72264	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	8.843429	0.98101	38	0.99649448588945277	0.77192	0.85476	0.44612	D	AEFDGBCI	0.302215	0.41052	N	0.547767584779175	0.69948	5.429922	0.374230951559077	0.59982	4.180818	0.994691424578772	0.33757	0.660377	0.49826	0	0.572659	0.20510	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	5.16	2.31	0.27816	2.070000	0.41116	1.393000	0.26132	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.3319:0.0:0.6681:0.0	7.851	0.28616	762	0.50290	Lysyl oxidase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1197.43	35	chr10	98252462	.	G	T	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=396;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.369;SOR=0.465	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr10	98262154	98262154	C	T	exonic	LOXL4	.	nonsynonymous SNV	LOXL4:NM_032211:exon3:c.G337A:p.G113R	.	427	1077	17	1	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.010162734934	0.0002	0.000998403	0.0008	0.0002	0	0.0002	0	0.0003	0	0.0042	0.0006533	101	154602	rs139735732	0.0004	0.0004	0.0003	0.0006	0.0039	0.0004	0.0004	0.0036	0.0034	2.987e-05	0.0001	0	0.0003	7.544e-05	0.0031	0.0002	0.0006	0.0039	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	0.0002	0	0.0001	0	0.0004	0	0	0.0003	0.0005	0.0021	0.621	0.05293	T	0.596	0.08052	T	0.0	0.02946	B	0.002	0.06944	B	0.875581	0.08793	N	0.947331	1	0.08975	N	-0.055	0.04927	N	0.9	0.45248	T	1.0	0.01408	N	0.212	0.23632	-0.9500	0.40972	T	0.031	0.13374	T	10	0.005600661	0.00124	T	0.010163	0.26368	T	0.059	0.16972	0.425	0.47021	0.194818534648	0.19098	0.557784500001143	0.55705	0.129204883604	0.14567	0.219119146466	0.01260	T	0.023614	0.17996	T	-0.629784	0.00096	T	-0.677938	0.07111	T	0.010355910036923	0.00142	T	0.312569	0.06116	T	0.070514545	0.15538	0.09088446	0.21339	0.070514545	0.15538	0.09088446	0.21339	-1.214	0.01270	T	.	.	0.070	0.03336	B	.	.	-0.363852	0.02350	0.255	0.75041132963450929	0.10923	0.03635	0.08881	N	AEFBCI	0.095982	0.19384	N	-1.84805683671024	0.00438	0.01883254	-1.82134516452117	0.00693	0.03086774	0.999987944663931	0.51787	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.69	-5.37	0.02472	-3.694000	0.00439	-4.101000	0.02342	-1.674000	0.00795	0.000000	0.06391	0.000000	0.08366	0.128000	0.19490	0.0:0.4915:0.0:0.5085	13.211	0.59251	760	0.50470	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1656.43	37	chr10	98262154	.	C	T	1656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=489;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.357;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1178	9	0	1	0
chr10	98431242	98431242	G	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322483:exon6:c.C188T:p.A63V,HPS1:NM_001322484:exon6:c.C188T:p.A63V,HPS1:NM_001322485:exon6:c.C188T:p.A63V,HPS1:NM_000195:exon7:c.C557T:p.A186V,HPS1:NM_001322476:exon7:c.C557T:p.A186V,HPS1:NM_001322477:exon7:c.C557T:p.A186V,HPS1:NM_001322478:exon7:c.C557T:p.A186V,HPS1:NM_001322479:exon7:c.C557T:p.A186V,HPS1:NM_001322491:exon7:c.C557T:p.A186V,HPS1:NM_182639:exon7:c.C557T:p.A186V	Hermansky-Pudlak syndrome 1, Autosomal recessive	0	1438	80	4	0	88	0.0296896	.	.	.	207810	not_specified|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1|not_provided	MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.054	.	0.0013	0.00599042	0.0050	0.0002	0.0016	0.0002	0	0.0020	0.0059	0.0265	0.0043143	667	154602	rs1801286	0.0027	0.0027	0.0018	0.0037	0.0275	0.0027	0.0026	0.0265	0.0262	0.0003	0.0013	0.0002	2.519e-05	5.643e-05	0.0151	0.0011	0.0038	0.0275	0.0020	0.0020	0.0018	0.0022	0.0226	0.0018	0.0017	0.0191	0.0178	0.0003	0	0.0013	0.0003	0	9.416e-05	0.0102	0.0021	0.0057	0.0226	1.0	0.00964	T	1.0	0.01155	T	0.021	0.31683	B	0.01	0.20508	B	0.002153	0.37138	N	0.314930	0.998406	0.26759	N	1.15	0.29295	L	1.64	0.41058	T	0.91	0.09627	N	0.134	0.14905	-1.0010	0.29631	T	0.041	0.17657	T	10	0.0071870685	0.00163	T	.	.	.	0.054	0.15330	.	.	0.268660756437	0.26461	0.14885547693182344	0.14807	0.146048444311	0.16491	0.331832438707	0.15211	T	0.070263	0.33916	T	-0.530698	0.00380	T	-0.514138	0.20891	T	0.003796283524488	0.00040	T	0.834017	0.50983	T	0.01461896	0.00101	0.026975624	0.00819	0.018808953	0.00403	0.028544946	0.01099	-8.403	0.64237	D	0.1050717186731348	0.08288	0.097	0.28348	B	.;.;.;.;.	.;.;.;.;.	2.102873	0.26757	17.23	0.90117148773238731	0.19398	0.68994	0.34014	D	AEFDBIJ	0.165861	0.29240	N	-0.825552417871028	0.12659	0.6184846	-0.688407324566909	0.17250	0.916387	0.0558207521864077	0.15031	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.3	1.37	0.21200	2.767000	0.47321	2.119000	0.30708	-0.113000	0.14837	0.995000	0.38783	0.914000	0.28189	0.796000	0.37562	0.5083:0.0:0.4917:0.0	7.055	0.24272	826	0.39940	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.013595	0.010101	0.008152	0.011696	0.050000	0.008621	0.024390	0.015152	0.05	805.43	58	chr10	98431242	.	G	A	805.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.285;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.218;SOR=0.568	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	9	0	1	0
chr10	98459735	98459735	C	G	exonic	HPSE2	.	nonsynonymous SNV	HPSE2:NM_001166245:exon10:c.G1282C:p.V428L,HPSE2:NM_001166244:exon11:c.G1444C:p.V482L,HPSE2:NM_021828:exon12:c.G1618C:p.V540L	Urofacial syndrome 1, Autosomal recessive	3	1505	14	0	0	14	0.00462963	.	.	.	724146	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.549	0.115942360711	0.0034	0.00139776	0.0037	0.0005	0.0023	0.0001	0.0036	0.0046	0.0064	0.0045	0.0033117	512	154602	rs140066668	0.0038	0.0038	0.0039	0.0038	0.0042	0.0037	0.0037	0.0041	0.0040	0.0005	0.0023	0.0016	0	0.0039	0.0028	0.0042	0.0037	0.0042	0.0026	0.0026	0.0026	0.0026	0.0045	0.0024	0.0023	0.0040	0.0039	0.0004	0	0.0012	0.0026	0.0002	0.0027	0	0.0045	0.0019	0.0021	0.004	0.68238	D	0.008	0.67890	D	0.984	0.63424	D	0.956	0.74843	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	-0.29	0.67712	T	-2.36	0.52128	N	0.72	0.76111	-0.0558	0.81083	T	0.435	0.77529	T	10	0.011920303	0.00259	T	0.115942	0.79528	D	0.549	0.81310	0.691	0.82843	0.71374881326	0.71124	0.7369415546005129	0.73639	0.662004393039	0.58951	0.722848176956	0.70462	T	0.372921	0.73701	T	0.00705562	0.52624	T	0.238863	0.85098	D	0.0296729125005479	0.01939	T	0.941406	0.78138	D	0.52032197	0.68278	0.47738644	0.69722	0.4818406	0.66013	0.48557222	0.70225	-8.889	0.68968	D	.	.	0.462	0.62806	A	.;.;.;.	.;.;.;.	4.604956	0.72972	25.9	0.99839792153786977	0.92057	0.94057	0.59983	D	AEFDGBHCI	0.829623	0.74850	D	0.802398648605398	0.86256	8.827167	0.774242232282881	0.87950	9.40335	1.0	0.98316	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	5.712000	0.68059	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.431	0.94757	818	0.41518	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.005051	0.001359	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	1041.43	61	chr10	98459735	.	C	G	1041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.322;DP=481;ExcessHet=0;FS=3.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=0.67;SOR=0.335	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,114,1710	9	0	1	0
chr10	99661522	99661522	G	A	exonic	ENTPD7	.	nonsynonymous SNV	ENTPD7:NM_001349963:exon3:c.G85A:p.V29M,ENTPD7:NM_020354:exon3:c.G85A:p.V29M,ENTPD7:NM_001349962:exon4:c.G91A:p.V31M	.	429	1035	57	1	0	59	0.0277125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0012	0.00199681	0.0034	9.612e-05	0.0036	0	0.0003	0.0025	0.0066	0.0113	0.0029495	456	154602	rs35229854	0.0020	0.0020	0.0016	0.0024	0.0206	0.0019	0.0019	0.0176	0.0165	0.0001	0.0030	0.0064	0	0.0003	0.0206	0.0011	0.0029	0.0118	0.0015	0.0015	0.0014	0.0016	0.0112	0.0014	0.0013	0.0088	0.0080	0.0001	0	0.0021	0.0078	0	9.454e-05	0.0034	0.0016	0.0029	0.0112	0.037	0.43085	D	0.174	0.30045	T	0.911	0.50336	P	0.491	0.47360	P	0.008670	0.30726	N	0.274711	0.996233	0.23076	N	1.5	0.37844	L	2.43	0.15261	T	-0.45	0.14782	N	0.528	0.55713	-1.0678	0.09903	T	0.033	0.14247	T	10	0.009385347	0.00212	T	.	.	.	0.062	0.17934	.	.	0.139678290688	0.13603	0.30423648248339563	0.30336	0.300151110896	0.32375	0.574234604836	0.49276	T	0.012203	0.10769	T	-0.465401	0.00909	T	-0.430905	0.29832	T	0.0340382042267121	0.02645	T	0.748625	0.36937	T	0.037930403	0.04957	0.052645225	0.08714	0.037930403	0.04957	0.052645225	0.08714	-4.611	0.32310	T	.	.	0.116	0.23360	B	.	.	2.997068	0.40031	21.1	0.99836436235638792	0.91714	0.39375	0.26199	N	ALL	0.077766	0.15674	N	0.0143417437295452	0.42508	2.562465	0.0522063431327149	0.42178	2.546715	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.49644	0.08281	0	0.648885	0.59868	0	.	.	5.68	4.77	0.60425	1.296000	0.32994	4.278000	0.42871	-0.153000	0.12021	0.995000	0.38783	1.000000	0.68203	0.950000	0.49671	0.0:0.1384:0.7181:0.1435	11.196	0.47943	838	0.37812	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.014620	0.000000	0.017241	0.006098	0.007576	0.05	1087.43	35	chr10	99661522	.	G	A	1087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.219;DP=398;ExcessHet=0;FS=2.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.766;SOR=1.025	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1258	9	0	1	0
chr10	99724042	99724042	G	A	exonic	COX15	.	nonsynonymous SNV	COX15:NM_001320974:exon5:c.C664T:p.R222C,COX15:NM_001320975:exon5:c.C664T:p.R222C,COX15:NM_001320976:exon5:c.C127T:p.R43C,COX15:NM_001372024:exon5:c.C664T:p.R222C,COX15:NM_001372025:exon5:c.C664T:p.R222C,COX15:NM_001372026:exon5:c.C664T:p.R222C,COX15:NM_001372027:exon5:c.C664T:p.R222C,COX15:NM_001372028:exon5:c.C664T:p.R222C,COX15:NM_004376:exon5:c.C664T:p.R222C,COX15:NM_078470:exon5:c.C664T:p.R222C	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, Autosomal recessive;Leigh syndrome due to cytochrome c oxidase deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	YES	737684	Leigh_syndrome|not_provided|COX15-related_disorder	MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.886	0.376663030316	0.0002	0.00139776	0.0005	0	8.637e-05	0.0054	0.0002	0.0001	0	0.0001	0.0004786	74	154602	rs2231682	0.0006	0.0006	0.0006	0.0006	0.0151	0.0005	0.0005	0.0141	0.0137	2.987e-05	4.472e-05	0.0005	0.0151	0	0	0.0001	0.0005	5.797e-05	0.0003	0.0004	0.0003	0.0004	0.0075	0.0003	0.0002	0.0057	0.0050	4.816e-05	0	0	0	0.0075	0	0	0.0002	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.052347	1	0.81001	D	3.92	0.96251	H	-1.86	0.84341	D	-7.68	0.95574	D	0.854	0.85027	1.012	0.97396	D	0.855	0.95152	D	10	0.03636244	0.01930	T	0.376663	0.92874	D	0.886	0.96688	.	.	0.954063321398	0.95357	0.895539446260645	0.89524	0.634923566102	0.57331	0.874183833599	0.93161	D	0.982401	0.99868	D	0.115891	0.65957	D	0.395474	0.91964	D	0.298563845630358	0.24944	T	0.998312	0.99192	D	0.95614475	0.96889	0.86625063	0.92607	0.95614475	0.96889	0.86625063	0.92608	-8.521	0.74187	D	0.9007248061856435	0.95228	0.606	0.77260	P	.;.	.;.	6.115536	0.94596	34	0.99918568919253758	0.98586	0.97913	0.78077	D	AEFBI	0.779351	0.71157	D	0.889748262111409	0.91249	10.78858	0.765627657658323	0.87320	9.181473	0.999685951961489	0.41756	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	5.894000	0.69546	11.901000	0.99356	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	17.812	0.88531	698	0.58074	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1023.43	35	chr10	99724042	.	G	A	1023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.268;DP=419;ExcessHet=0;FS=0.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=-0.125;SOR=0.81	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	9	0	1	0
chr10	99799228	99799228	A	G	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon8:c.A889G:p.K297E	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.129997596501	.	.	8.256e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs778413437	1.368e-05	1.368e-05	1.361e-05	1.375e-05	1.799e-05	8.94e-06	7.26e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.799e-05	0	0	1.314e-05	1.313e-05	0	2.691e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.6	0.05635	T	0.56	0.09113	T	0.004	0.12183	B	0.004	0.10090	B	0.142678	0.18236	N	0.618692	0.984012	0.40089	D	0	0.06538	N	-2.49	0.89145	D	-0.32	0.12283	N	0.162	0.17002	-0.2710	0.75785	T	0.551	0.83574	D	10	0.117411345	0.22172	T	0.129998	0.81211	D	0.179	0.44899	0.354	0.35408	0.790494687022	0.78854	0.23666682246296988	0.23581	0.0460822907336	0.05005	0.335156857967	0.15711	T	0.040592	0.25579	T	-0.0324767	0.47055	T	-0.284427	0.46348	T	0.0670932461778452	0.08237	T	0.318368	0.06377	T	0.106953725	0.25289	0.10164308	0.24337	0.106953725	0.25289	0.10164308	0.24337	-4.277	0.27853	T	.	.	0.078	0.06990	B	.;.	.;.	2.018348	0.25648	16.84	0.75215336559167556	0.10989	0.74029	0.36210	D	AEBHCI	0.568460	0.57363	D	-0.484017650881209	0.22604	1.208138	-0.397192464555749	0.25081	1.377164	0.99999967776722	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	4.73	0.59485	2.044000	0.40863	3.576000	0.39140	0.754000	0.88378	0.995000	0.38783	0.994000	0.32194	0.545000	0.30055	0.9176:0.0:0.0824:0.0	10.182	0.42148	811	0.42639	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	979.43	34	chr10	99799228	.	A	G	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.635;DP=407;ExcessHet=0;FS=0.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-1.445;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr10	99842038	99842038	A	G	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon26:c.A3686G:p.Y1229C	Dubin-Johnson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.589	0.210719070683	.	.	.	.	.	.	.	.	.	.	.	.	.	rs768072382	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.012	0.54683	D	0.016	0.60972	D	0.947	0.53479	P	0.895	0.63489	P	0.000556	0.43413	D	0.239425	0.546593	0.31369	N	2.865	0.83145	M	-2.53	0.89430	D	-0.97	0.25770	N	0.479	0.51405	0.441	0.89702	D	0.735	0.90933	D	10	0.7284553	0.74133	D	0.210719	0.87267	D	0.589	0.83582	0.539	0.65018	0.895856245955	0.89483	0.5916984403449667	0.59099	0.257723927527	0.28330	0.487130969763	0.37041	T	0.392999	0.75252	T	0.22698	0.76436	D	0.0882642	0.76130	D	0.951671004295349	0.63615	D	0.969903	0.89155	D	0.27669314	0.50730	0.22339539	0.47216	0.27669314	0.50730	0.22339539	0.47215	-4.054	0.24609	T	0.33381327787473924	0.43178	0.125	0.26514	B	.;.	.;.	3.514191	0.49230	22.7	0.99251597801474845	0.56891	0.84970	0.44068	D	AEDBI	0.473921	0.51840	N	0.305083538303812	0.56408	3.805579	0.201519155611353	0.49932	3.190674	0.999999504176816	0.74766	0.553676	0.25195	0	0.588066	0.40923	0	0.478664	0.07449	1	0.620846	0.47308	0	.	.	6.16	5.02	0.66742	2.308000	0.43350	5.956000	0.51737	0.754000	0.88378	0.114000	0.23067	1.000000	0.68203	0.137000	0.19835	0.6207:0.1868:0.0728:0.1196	3.452	0.07071	764	0.49969	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2071.43	33	chr10	99842038	.	A	G	2071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.061;DP=478;ExcessHet=0;FS=1.863;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.437;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1182	9	0	1	0
chr10	100220598	100220598	A	G	exonic	CHUK	.	nonsynonymous SNV	CHUK:NM_001278:exon5:c.T464C:p.V155A,CHUK:NM_001320928:exon5:c.T464C:p.V155A	Cocoon syndrome	9	1467	42	4	0	50	0.016756	.	.	.	1278497	not_provided|CHUK-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.0207668	0.0126	0.0004	0.0023	0.0580	0	0.0017	0.0088	0.0534	0.0112741	1743	154602	rs2230803	0.0057	0.0057	0.0044	0.0071	0.0552	0.0056	0.0056	0.0533	0.0525	0.0004	0.0013	0.0067	0.0552	5.63e-05	0.0082	0.0009	0.0090	0.0496	0.0050	0.0050	0.0040	0.0061	0.0592	0.0047	0.0046	0.0538	0.0516	0.0006	0.0022	0.0022	0.0078	0.0592	0	0.0068	0.0014	0.0061	0.0539	1.0	0.00964	T	0.751	0.04790	T	0.001	0.07471	B	0.005	0.11217	B	0.013895	0.28700	N	0.360137	0.529365	0.31504	N	0.715	0.18665	N	-0.1	0.64264	T	0.18	0.05035	N	0.064	0.03613	-1.0512	0.14064	T	0.011	0.04321	T	10	0.0019171834	0.00026	T	.	.	.	0.133	0.36157	.	.	.	.	0.3774204968572709	0.37657	0.672962783049	0.59561	0.488521426916	0.37233	T	0.066124	0.32865	T	-0.498435	0.00583	T	-0.437693	0.29068	T	0.00267601300508277	0.00028	T	0.539346	0.18229	T	0.03628747	0.04434	0.03791049	0.03543	0.03628747	0.04433	0.03791049	0.03543	-4.96	0.36403	T	.	.	0.083	0.09336	B	.	.	1.222298	0.16164	12.36	0.24233075997388187	0.01062	0.90637	0.51979	D	AEFBI	0.298826	0.40804	N	-0.737328779990361	0.14979	0.7509123	-0.481896636289056	0.22652	1.231441	0.853176855870355	0.25083	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.85	4.72	0.59248	2.650000	0.46329	3.530000	0.38948	-0.056000	0.16711	1.000000	0.71638	1.000000	0.68203	0.652000	0.32748	0.9151:0.0:0.0849:0.0	8.846	0.34329	820	0.40914	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.005435	0.002924	0.000000	0.017241	0.015244	0.018939	0.05	1045.43	33	chr10	100220598	.	A	G	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=409;ExcessHet=0;FS=1.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=1.63;SOR=0.59	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr10	100291342	100291342	T	C	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon12:c.A1825G:p.K609E,PKD2L1:NM_016112:exon12:c.A1966G:p.K656E	.	436	1047	36	3	0	42	0.0196629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0009	0.0209665	0.0126	0.0004	0.0022	0.0580	0	0.0017	0.0088	0.0536	0.0112806	1744	154602	rs79568268	0.0058	0.0058	0.0044	0.0071	0.0558	0.0056	0.0056	0.0539	0.0531	0.0005	0.0013	0.0067	0.0558	5.617e-05	0.0083	0.0009	0.0089	0.0499	0.0050	0.0050	0.0040	0.0061	0.0591	0.0047	0.0046	0.0536	0.0515	0.0005	0.0022	0.0022	0.0078	0.0591	0	0.0068	0.0014	0.0061	0.0546	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000825	0.41547	N	0.271399	0.989172	0.25819	N	0.535	0.13693	N	-0.27	0.67367	T	1.0	0.01408	N	0.097	0.07811	-1.0650	0.10549	T	0.013	0.05033	T	10	0.0017721057	0.00023	T	.	.	.	0.050	0.13987	.	.	.	.	0.09170445828702709	0.09103	0.0931337591576	0.10522	0.276419073343	0.06999	T	0.008844	0.08094	T	-0.539104	0.00339	T	-0.49611	0.22751	T	0.000323396377168035	0.00003	T	0.763824	0.39073	T	0.04916066	0.08687	0.068521455	0.14320	0.04916066	0.08686	0.068521455	0.14320	-4.012	0.23983	T	.	.	0.062	0.01290	B	.	.	1.637626	0.20906	14.96	0.5622660041134101	0.05507	0.66007	0.32930	D	AEFDBCI	0.262862	0.38052	N	-0.76563726123605	0.14212	0.7061358	-0.5879741580489	0.19806	1.064319	0.999983876331531	0.51787	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.82	2.16	0.26663	1.080000	0.30390	2.764000	0.34625	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.5298:0.0:0.4702	6.369	0.20676	815	0.41851	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011122	0.005051	0.005435	0.002924	0.000000	0.017241	0.018519	0.018939	0.05	1922.43	33	chr10	100291342	.	T	C	1922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.445;DP=507;ExcessHet=0;FS=5.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.36;SOR=0.399	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,117,1460	9	0	1	0
chr10	100329878	100329878	C	A	exonic	PKD2L1	.	nonsynonymous SNV	PKD2L1:NM_001253837:exon1:c.G63T:p.K21N,PKD2L1:NM_016112:exon1:c.G226T:p.G76C	.	371	1121	29	1	0	31	0.0136384	.	.	.	701136	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.0190395566659	0.0041	0.00319489	0.0048	0.0009	0.0036	0.0001	0.0011	0.0058	0.0046	0.0090	0.0047153	729	154602	rs117403721	0.0054	0.0054	0.0052	0.0055	0.0082	0.0053	0.0052	0.0077	0.0075	0.0009	0.0044	0.0145	0	0.0008	0.0047	0.0055	0.0061	0.0082	0.0036	0.0036	0.0036	0.0036	0.0072	0.0033	0.0033	0.0054	0.0047	0.0007	0	0.0043	0.0153	0	0.0007	0.0034	0.0051	0.0024	0.0072	0.004	0.65419	D	0.026	0.55759	D	0.019	0.17989	B	0.019	0.18783	B	0.385893	0.13323	N	0.731827	1	0.08975	N	2.175	0.60977	M	0.24	0.59583	T	-4.23	0.75935	D	0.216	0.24135	-1.0067	0.27943	T	0.068	0.27811	T	10	0.008423835	0.00191	T	0.01904	0.41292	T	0.108	0.30607	.	.	0.594169782683	0.59095	0.5379647314443091	0.53721	0.0728802315948	0.08163	0.318361461163	0.13173	T	0.244	0.61351	T	-0.374388	0.03378	T	-0.306414	0.44044	T	0.0347109965057643	0.02759	T	0.60444	0.22695	T	0.34537587	0.56705	0.23732647	0.49026	0.34537587	0.56705	0.23732647	0.49025	-6.936	0.53566	T	.	.	0.090	0.12465	B	.	.	0.834622	0.12059	8.616	0.47285426592381663	0.03854	0.10713	0.16140	N	AEFBI	0.091783	0.18588	N	-0.741407035168357	0.14869	0.7443333	-0.88933998396654	0.12346	0.6345305	0.0154833805528523	0.12719	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.95	-0.397	0.11804	0.194000	0.16941	-1.528000	0.05238	-0.176000	0.10722	0.057000	0.21666	0.000000	0.08366	0.022000	0.11911	0.1392:0.5447:0.0:0.316	5.054	0.13859	736	0.53558	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.010101	0.012228	0.005848	0.000000	0.000000	0.009146	0.011364	0.05	748.43	35	chr10	100329878	.	C	A	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.952;DP=353;ExcessHet=0;FS=2.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.59;SOR=0.34	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,877	9	0	1	0
chr10	100490238	100490238	C	G	exonic	SEC31B	.	nonsynonymous SNV	SEC31B:NM_015490:exon21:c.G2735C:p.G912A	.	424	1094	3	1	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00742358848357	7.7e-05	.	6.671e-05	0	8.711e-05	0	0.0002	9.063e-05	0	0	5.17e-05	8	154602	rs372086301	6.09e-05	6.088e-05	6.672e-05	5.502e-05	0.0012	5.029e-05	4.673e-05	0.0006	0.0004	0	2.239e-05	0	0	0.0001	0.0012	6.206e-05	6.624e-05	1.16e-05	5.921e-05	5.911e-05	5.146e-05	6.733e-05	8.826e-05	3.081e-05	2.213e-05	3.764e-05	2.576e-05	0	0	0	0	0	0.0003	0	8.826e-05	0	0	0.281	0.15458	T	0.516	0.10607	T	0.005	0.12996	B	0.004	0.10090	B	0.114424	0.19275	N	0.570411	1	0.08975	N	2.175	0.60977	M	0.67	0.52187	T	-0.65	0.18877	N	0.183	0.19861	-1.0314	0.20002	T	0.084	0.32843	T	10	0.03805819	0.02199	T	0.007424	0.19685	T	0.025	0.05312	.	.	0.0884992946249	0.08302	0.2939726826192717	0.29310	0.0347712706754	0.03660	0.324701488018	0.14134	T	0.002123	0.01528	T	-0.373913	0.03401	T	-0.570326	0.15420	T	0.0392155815356565	0.03548	T	0.616838	0.23625	T	0.023508457	0.01096	0.02889795	0.01170	0.023508457	0.01096	0.02889795	0.01170	-3.839	0.21388	T	.	.	0.076	0.05890	B	.	.	0.679988	0.10482	7.201	0.64601521857436928	0.07539	0.13513	0.17898	N	AEFDBI	0.050134	0.08733	N	-0.967933155960505	0.09295	0.4392942	-0.962636152752117	0.10631	0.5366645	0.543444094744224	0.21272	0.706548	0.73137	0	0.724815	0.89359	0	0.687403	0.62504	0	0.635551	0.53088	0	.	.	5.48	2.53	0.29594	1.243000	0.32370	1.586000	0.27502	-0.182000	0.10109	0.009000	0.18154	0.005000	0.19230	0.192000	0.21661	0.1635:0.5927:0.1579:0.0859	4.186	0.09859	756	0.51065	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1172.43	34	chr10	100490238	.	C	G	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.869;DP=472;ExcessHet=0;FS=15.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=-3.029;SOR=1.629	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1152	9	0	1	0
chr10	100989084	100989084	C	A	exonic	TWNK	.	nonsynonymous SNV	TWNK:NM_001163812:exon1:c.C874A:p.P292T,TWNK:NM_021830:exon1:c.C874A:p.P292T	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), Autosomal recessive;Perrault syndrome 5, Autosomal recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	481146	not_provided|Infantile_onset_spinocerebellar_ataxia|Perrault_syndrome_5	MedGen:C3661900|MONDO:MONDO:0010060,MedGen:C1849096,OMIM:271245,Orphanet:1186|MONDO:MONDO:0014504,MedGen:C4015307,OMIM:616138,Orphanet:2855	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.729	0.153055471878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.526e-06	7.524e-06	1.089e-05	4.126e-06	9.894e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.27080	T	0.206	0.27056	T	0.959	0.90584	D	0.625	0.92359	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.685	0.78553	M	-2.97	0.92007	D	-2.52	0.58896	D	0.73	0.73105	0.704	0.93224	D	0.856	0.95193	D	10	0.8389269	0.83046	D	0.153055	0.83438	D	0.729	0.90501	0.51	0.60693	0.831548490484	0.82994	0.7709927646158667	0.77048	1.47156410767	0.86541	.	.	.	0.339439	0.70858	T	0.301959	0.83126	D	0.195967	0.82908	D	0.955702722072601	0.64574	D	0.922208	0.72323	D	0.2970909	0.52642	0.25431392	0.51094	0.26239753	0.49301	0.22142878	0.46951	-7.049	0.55875	T	0.644717438624265	0.71596	0.191	0.40968	B	.;.	.;.	3.363054	0.46435	22.3	0.98785495211574903	0.46206	0.98865	0.87884	D	AEFGBCI	0.875129	0.79838	D	0.579339852274448	0.71886	5.719605	0.555650212520025	0.71790	5.709039	1.0	0.98316	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.79	5.79	0.91751	7.558000	0.81210	7.641000	0.63200	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.049000	0.15107	0.0:1.0:0.0:0.0	18.622	0.91282	552	0.72024	Archaeal primase DnaG/twinkle, TOPRIM domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2585.43	33	chr10	100989084	.	C	A	2585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.38;DP=549;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.52;SOR=0.53	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	9	0	1	0
chr10	101010658	101010658	C	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon15:c.G2231A:p.R744Q	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	4	1508	8	2	0	12	0.00396301	.	.	.	654566	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.044	.	.	0.00419329	0.0246	0.0063	0	0	.	0.0008	0	0.0371	0.0010543	163	154602	rs547610251	0.0011	0.0010	0.0006	0.0016	0.0194	0.0011	0.0010	0.0185	0.0182	6.605e-05	3.14e-05	0	3.001e-05	0	0.0015	2.694e-05	0.0012	0.0194	0.0009	0.0008	0.0003	0.0015	0.0250	0.0007	0.0007	0.0209	0.0193	7.037e-05	0	0	0	0	0	0	7.383e-05	0	0.0250	.	.	.	0.541	0.09725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.09207	-1.0310	0.20131	T	0.107	0.39003	T	6	0.0038311481	0.00072	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.295615704741089	0.29474	.	.	0.507544219494	0.39879	T	.	.	.	-0.485126	0.00691	T	-0.452707	0.27398	T	0.0372018343190578	0.03191	T	0.540346	0.18307	T	0.049388196	0.08760	0.08228831	0.18768	0.06877283	0.15009	0.07478913	0.16396	-4.01	0.23953	T	0.1322206610227776	0.14078	0.092	0.13597	B	.;.	.;.	1.488358	0.19152	14.12	0.64691380618565664	0.07564	0.25809	0.22809	N	AEFBI	.	.	.	-0.514614480550069	0.21607	1.147921	-0.498005003382714	0.22209	1.20516	0.999981340669412	0.51787	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.754282	0.44799	5.54	4.64	0.57399	0.394000	0.20559	3.243000	0.36978	-0.283000	0.06393	0.221000	0.24547	0.927000	0.28453	0.003000	0.05239	0.0:0.7769:0.1449:0.0782	9.272	0.36840	556	0.71678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1184.43	42	chr10	101010658	.	C	T	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.88;DP=521;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-0.758;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr10	101010878	101010878	G	T	exonic	PDZD7	.	nonsynonymous SNV	PDZD7:NM_001195263:exon15:c.C2011A:p.R671S	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	3	1517	2	0	0	2	0.000658762	0.0309	0.11	.	654568	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.047	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs925832623	3.112e-05	3.215e-05	3.715e-05	2.494e-05	0.0005	2.345e-05	2.084e-05	0.0002	0.0002	0	0.0004	0	0	0	0.0005	2.317e-05	5.196e-05	0	3.288e-05	3.284e-05	1.286e-05	5.385e-05	0.0001	1.262e-05	7.99e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	4.41e-05	0	0	.	.	.	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.56662	-0.8576	0.51434	T	0.180	0.52721	T	6	0.28959727	0.46541	T	.	.	.	.	.	.	.	0.0934897674506	0.08844	0.6483783243587042	0.64773	.	.	0.731171965599	0.71678	T	.	.	.	-0.101757	0.36135	T	-0.0765274	0.65157	T	0.882548630237579	0.53266	D	0.783222	0.41972	T	0.27543643	0.50607	0.4431767	0.67543	0.27543643	0.50607	0.4431767	0.67543	-5.518	0.42036	T	0.5378990429405159	0.60791	0.377	0.58221	A	.;.	.;.	4.277832	0.65141	24.8	0.90723889873354957	0.19974	0.70579	0.34649	D	AEFDBI	.	.	.	0.278632870790137	0.55065	3.671059	0.380464826479459	0.60360	4.222812	0.999998337568262	0.74766	0.055982	0.00716	0	0.060609	0.00678	0	0.072005	0.02045	0	0.079188	0.02158	0	0.961826	0.66234	5.3	5.3	0.74745	4.425000	0.59623	8.404000	0.77112	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7101:0.2899	11.447	0.49372	556	0.71678	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001692	0.000000	0.000000	0.000000	0.000000	0.000000	0.008929	0.000000	0.05	800.43	42	chr10	101010878	.	G	T	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=377;ExcessHet=0;FS=5.987;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-0.525;SOR=1.597	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	9	0	1	0
chr10	101843535	101843535	C	T	exonic	KCNIP2	.	nonsynonymous SNV	KCNIP2:NM_014591:exon1:c.G34A:p.D12N,KCNIP2:NM_173191:exon1:c.G34A:p.D12N,KCNIP2:NM_173192:exon1:c.G34A:p.D12N,KCNIP2:NM_173193:exon1:c.G34A:p.D12N,KCNIP2:NM_173195:exon1:c.G34A:p.D12N,KCNIP2:NM_173197:exon1:c.G34A:p.D12N	.	.	.	.	.	.	.	.	.	.	.	4158756	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0246442223573	.	.	0.0001	0	0	0.0020	0	0	0	0	4.53e-05	7	154602	rs776223860	1.821e-05	2.873e-05	1.809e-05	1.834e-05	0.0006	1.267e-05	1.077e-05	0.0004	0.0003	0	0	0	0.0006	0	0	3.648e-06	0	1.232e-05	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.073	0.65419	T	0.621	0.34716	T	0.938	0.52538	P	0.315	0.41566	B	0.069135	0.21625	N	0.400446	0.975	0.39110	D	1.355	0.33814	L	-0.48	0.70365	T	-0.78	0.21644	N	0.278	0.43995	-0.6097	0.64416	T	0.174	0.51722	T	10	0.07178038	0.10627	T	0.024644	0.47637	T	0.178	0.44724	0.084	0.00795	0.779952407381	0.77792	0.5220711261260678	0.52130	0.943382254411	0.72301	0.77399212122	0.78022	T	0.143489	0.47963	T	-0.150234	0.28273	T	-0.453577	0.27303	T	0.17380709809735	0.18836	T	0.959504	0.85511	D	0.15240379	0.34598	0.18398458	0.41422	0.15240379	0.34597	0.18398458	0.41422	-4.157	0.30162	T	.	.	0.225	0.56786	B	.;.;.;.;.;.	.;.;.;.;.;.	5.533578	0.91895	32	0.99826853093649248	0.90939	0.85173	0.44283	D	AEFBHCI	0.801383	0.72711	D	0.160071186856846	0.49291	3.131042	0.307890691206296	0.56002	3.763158	0.999999999999859	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.98	4.98	0.65679	4.903000	0.62964	7.485000	0.59302	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.195	0.81835	441	0.80015	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	34	chr10	101843535	.	C	T	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.612;DP=384;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.973;SOR=0.468	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr10	102138731	102138731	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon3:c.C455T:p.S152L,PPRC1:NM_001288728:exon3:c.C95T:p.S32L,PPRC1:NM_015062:exon3:c.C455T:p.S152L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0213879915693	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1017509149	1.026e-05	1.026e-05	1.361e-05	6.875e-06	2.519e-05	6.16e-06	4.89e-06	5.31e-06	3.88e-06	0	2.236e-05	0	2.519e-05	0	0	9.892e-06	1.656e-05	1.159e-05	2.629e-05	2.627e-05	2.569e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.011	0.67890	D	1.0	0.90584	D	0.926	0.66095	D	0.002954	0.35672	N	0.128905	0.995538	0.48635	D	1.935	0.51832	L	0.54	0.54911	T	-1.95	0.47514	N	0.676	0.75374	-0.7387	0.58519	T	0.236	0.60270	T	10	0.5357054	0.63435	D	0.021388	0.44151	T	0.190	0.46781	0.21	0.12781	0.355511061997	0.35164	0.33619672616790974	0.33532	0.434137609734	0.43540	0.644403100014	0.59190	T	0.109499	0.63963	T	0.159057	0.70113	D	0.0875513	0.76082	D	0.848712682723999	0.50055	D	0.952405	0.82069	D	0.17353238	0.38107	0.25935268	0.51682	0.17353238	0.38107	0.25935268	0.51681	-4.361	0.29023	T	.	.	0.392	0.59148	A	.;.	.;.	4.652696	0.74177	26.1	0.99830308445557725	0.91198	0.98905	0.88430	D	AEFDBCI	0.855417	0.77254	D	0.567123256675012	0.71131	5.604495	0.594478309326109	0.74542	6.154913	0.999999999992534	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	7.477000	0.80071	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	18.228	0.89862	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2181.43	34	chr10	102138731	.	C	T	2181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=480;ExcessHet=0;FS=4.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.71;SOR=0.587	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	9	0	1	0
chr10	102139290	102139290	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.C782T:p.A261V,PPRC1:NM_001288728:exon5:c.C422T:p.A141V,PPRC1:NM_015062:exon5:c.C782T:p.A261V	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.0191291148558	0.0035	0.00119808	0.0023	0.0015	0.0017	0	0.0023	0.0034	0.0022	6.057e-05	0.0022768	352	154602	rs143974270	0.0027	0.0027	0.0028	0.0027	0.0032	0.0027	0.0026	0.0031	0.0031	0.0007	0.0018	0.0011	0	0.0017	0.0023	0.0032	0.0029	9.275e-05	0.0023	0.0023	0.0023	0.0022	0.0040	0.0021	0.0020	0.0036	0.0034	0.0006	0	0.0018	0.0012	0	0.0010	0	0.0040	0.0028	0.0002	0.003	0.68238	D	0.223	0.28958	T	0.666	0.41077	P	0.212	0.37394	B	0.546470	0.11481	N	0.808765	0.994645	0.23474	N	1.895	0.50365	L	1.51	0.30937	T	-0.85	0.23156	N	0.211	0.25989	-1.0793	0.07485	T	0.043	0.18285	T	10	0.008001208	0.00182	T	0.019129	0.41408	T	0.046	0.12618	.	.	0.117191471859	0.11215	0.15601887986791266	0.15522	0.458757001523	0.45483	0.383677124977	0.22777	T	0.030192	0.41828	T	-0.492022	0.00633	T	-0.477059	0.24759	T	0.0175856112841407	0.00492	T	0.90281	0.66017	D	0.05048767	0.09128	0.0835837	0.19166	0.05048767	0.09127	0.0835837	0.19166	-3.585	0.17640	T	.	.	0.131	0.28116	B	.;.	.;.	2.306861	0.29522	18.15	0.99899801724188109	0.97199	0.88636	0.48657	D	AEFBCI	0.141539	0.26374	N	-0.107490404750593	0.37065	2.151202	-0.0219869607102701	0.38725	2.285586	0.617663790996597	0.21856	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.6	3.7	0.41607	0.821000	0.26993	-0.293000	0.10176	0.599000	0.40250	0.078000	0.22289	0.002000	0.18203	0.922000	0.45779	0.1451:0.7155:0.1394:0.0	11.033	0.47002	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1211.43	34	chr10	102139290	.	C	T	1211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.725;DP=432;ExcessHet=0;FS=1.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-1.985;SOR=0.952	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	9	0	1	0
chr10	102141084	102141084	C	A	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.C2576A:p.S859Y,PPRC1:NM_001288728:exon5:c.C2216A:p.S739Y,PPRC1:NM_015062:exon5:c.C2576A:p.S859Y	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.018205127813	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185536331	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.043	0.49942	D	0.641	0.40421	P	0.202	0.39405	B	0.835004	0.09077	N	0.911542	1	0.08975	N	1.355	0.33814	L	1.88	0.24285	T	-2.2	0.49519	N	0.217	0.24385	-1.0308	0.20195	T	0.042	0.18160	T	10	0.089156866	0.15417	T	0.018205	0.40197	T	0.025	0.05312	0.237	0.16760	0.0675242888579	0.06100	0.16109931744418524	0.16030	0.187294551966	0.21046	0.29803788662	0.10109	T	0.027033	0.40969	T	-0.321016	0.06815	T	-0.698894	0.05886	T	0.126854465043872	0.15088	T	0.766723	0.45286	T	0.027232766	0.01885	0.045443818	0.06116	0.027232766	0.01885	0.045443818	0.06115	-7.242	0.55782	T	.	.	0.136	0.29670	B	.;.	.;.	0.093227	0.04966	1.529	0.96586026258327984	0.30351	0.50947	0.28781	D	AEFBHCI	0.094411	0.19089	N	-0.682065657629735	0.16533	0.8431784	-0.744925271345311	0.15846	0.8354728	0.737498780099199	0.23155	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	1.03	0.19161	-0.789000	0.04714	-0.141000	0.11517	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1373:0.5203:0.0:0.3424	4.696	0.12186	666	0.61362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2085.43	34	chr10	102141084	.	C	A	2085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.139;DP=518;ExcessHet=0;FS=1.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.985;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	9	0	1	0
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A,PPRC1:NM_001288728:exon5:c.T2366C:p.V789A,PPRC1:NM_015062:exon5:c.T2726C:p.V909A	.	393	1072	56	1	0	58	0.0263397	.	.	.	3202232	PPRC1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.005051	0.024457	0.008772	0.050000	0.000000	0.021341	0.007576	0.1	4610.14	34	chr10	102141234	.	T	C	4610.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.14;DP=705;ExcessHet=0.2348;FS=2.121;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.379;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1291	8	0	2	0
chr10	102144271	102144271	C	T	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon7:c.C3572T:p.P1191L,PPRC1:NM_001288728:exon7:c.C3212T:p.P1071L,PPRC1:NM_015062:exon7:c.C3572T:p.P1191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.012156789572	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.29e-05	2	154602	rs771146169	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0001	8.94e-06	7.26e-06	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	1.079e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	3.853e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0.0002	0.388	0.10909	T	0.087	0.40747	T	0.001	0.07471	B	0.001	0.04355	B	0.156418	0.17800	N	0.593417	0.959138	0.51968	D	0.035	0.08059	N	2.0	0.28836	T	-0.46	0.14978	N	0.22	0.27077	-1.0811	0.07137	T	0.030	0.12935	T	10	0.04252681	0.03010	T	0.012157	0.30482	T	0.043	0.11576	0.208	0.12497	0.043077524339	0.03247	0.08833544356075104	0.08766	0.0854666264456	0.09655	0.374650776386	0.21495	T	0.020069	0.28446	T	-0.412661	0.01909	T	-0.661407	0.08172	T	0.12467011064291	0.14881	T	0.779622	0.43772	T	0.030654108	0.02766	0.02931695	0.01257	0.030654108	0.02766	0.02931695	0.01257	-4.445	0.30162	T	.	.	0.081	0.08081	B	.;.;.	.;.;.	2.255402	0.28814	17.92	0.99032225798144058	0.50830	0.17978	0.20068	N	AEFDBCI	0.020545	0.00823	N	-0.882855447133515	0.11250	0.5419089	-0.755301139707255	0.15592	0.8208208	0.998454143327198	0.36996	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.25	-0.522	0.11332	-0.508000	0.06426	-0.007000	0.13116	-0.242000	0.07441	0.389000	0.26079	0.000000	0.08366	0.941000	0.48210	0.2517:0.2442:0.0:0.5041	4.213	0.09979	666	0.61362	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1045.43	35	chr10	102144271	.	C	T	1045.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=0.841;SOR=0.586	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	9	0	1	0
chr10	102149968	102149968	A	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon12:c.A4142G:p.K1381R,PPRC1:NM_001288728:exon14:c.A4568G:p.K1523R,PPRC1:NM_015062:exon14:c.A4934G:p.K1645R	.	.	.	.	.	.	.	.	.	.	.	2262677	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.00820390655603	7.7e-05	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs137986551	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	5.974e-05	4.472e-05	0	0	0	0.0003	9.894e-06	0	0	3.944e-05	3.94e-05	2.571e-05	5.381e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0	0	0.064	0.36509	T	0.302	0.20228	T	0.787	0.44504	P	0.32	0.41729	B	0.000000	0.84330	D	0.049407	0.99587	0.42900	D	1.185	0.30054	L	1.67	0.39050	T	-1.51	0.37178	N	0.454	0.49146	-0.8911	0.48837	T	0.088	0.33941	T	10	0.10530254	0.19457	T	0.008204	0.21725	T	0.126	0.34673	.	.	0.082315109003	0.07666	0.5287747555345306	0.52801	0.947446290278	0.72469	0.668009579182	0.62554	T	0.085414	0.53301	T	-0.119389	0.33225	T	-0.227742	0.51991	T	0.111615307629108	0.13589	T	0.888711	0.63671	D	0.21454161	0.43862	0.17444234	0.39840	0.21454161	0.43862	0.17444234	0.39839	-5.949	0.45850	T	.	.	0.181	0.52368	B	.;.;.	.;.;.	3.848172	0.55733	23.6	0.99725882181227321	0.82406	0.96869	0.71382	D	AEFBI	0.452664	0.50612	N	0.19501341552465	0.50960	3.281164	0.305613820986169	0.55867	3.749737	0.999998472970656	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.11	5.11	0.69188	5.056000	0.64112	11.182000	0.88348	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9219:0.0:0.0781:0.0	9.557	0.38511	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1187.43	35	chr10	102149968	.	A	G	1187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.067;DP=402;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=2.74;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	9	0	1	0
chr10	103054362	103054362	G	A	exonic	CNNM2	.	nonsynonymous SNV	CNNM2:NM_017649:exon3:c.G1799A:p.R600Q,CNNM2:NM_199076:exon3:c.G1799A:p.R600Q	Hypomagnesemia 6, renal, Autosomal dominant;Hypomagnesemia, seizures, and mental retardation, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0323649749583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	4.084e-06	1.375e-06	1.799e-06	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	3.826e-05	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32769	T	0.146	0.33894	T	0.989	0.67487	D	0.691	0.62898	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.84	0.74265	T	-1.05	0.29933	N	0.454	0.50327	-0.2530	0.76279	T	0.463	0.79207	T	10	0.3389471	0.50990	T	0.032365	0.54212	D	0.365	0.68495	0.495	0.58363	0.161926535498	0.15789	0.6289722101350792	0.62830	.	.	0.831303715706	0.86762	D	0.037418	0.24468	T	0.160733	0.70268	D	-0.006895	0.69887	D	0.951495051383972	0.63574	D	0.906009	0.66877	D	0.19341995	0.41051	0.17058216	0.39179	0.19341995	0.41051	0.17058216	0.39178	-7.03	0.56487	T	0.1149536012604909	0.10231	0.217	0.50618	B	.;.	.;.	4.858077	0.79476	27.1	0.99845005151639976	0.92489	0.84102	0.43187	D	ALL	0.897798	0.84038	D	0.578942311969152	0.71862	5.715775	0.60177128487563	0.75068	6.245651	1.0	0.98316	0.706298	0.61202	0	0.093493	0.02558	3	0.709663	0.75317	0	0.604282	0.37693	0	.	.	6.03	6.03	0.97798	8.129000	0.89477	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:1.0:0.0	20.557	0.99307	528	0.73785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	854.43	33	chr10	103054362	.	G	A	854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=423;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.54;ReadPosRankSum=0.405;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	9	0	1	0
chr10	103368376	103368387	CTCCGGAGCCCC	-	exonic	TAF5	.	nonframeshift deletion	TAF5:NM_006951:exon1:c.387_398del:p.S130_P133del,TAF5:NM_139052:exon1:c.387_398del:p.S130_P133del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	105.39	34	chr10	103368375	.	GCTCCGGAGCCCC	G	105.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.239;DP=483;ExcessHet=0;FS=40.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=-3.305;SOR=2.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:99:0|1:103368375_GCTCCGGAGCCCC_G:117,0,945:103368375	9	0	1	0
chr10	103368377	103368377	T	0	exonic	TAF5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	8116.8	90	chr10	103368377	.	T	*	8116.8	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.183;DP=493;ExcessHet=2.4664;FS=124.344;InbreedingCoeff=-0.4141;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=20.76;ReadPosRankSum=0.553;SOR=0.008	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,7:30:99:0|1:103368375_GCTCCGGAGCCCC_G:117,0,945:103368375	7	0	1	2
chr10	103368393	103368393	A	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.A404G:p.E135G,TAF5:NM_139052:exon1:c.A404G:p.E135G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.153720025215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.83e-07	3.593e-05	1.553e-06	0	9.975e-07	0	0	.	.	0	0	0	0	0	0	9.975e-07	0	0	2.733e-05	0.0001	2.669e-05	2.799e-05	6.733e-05	8.39e-06	5.3e-06	.	.	0	0	6.733e-05	0	0	0.0002	0	0	0.0005	0	0.154	0.24277	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.132992	0.18567	N	0.537430	0.862857	0.28328	N	1.04	0.26193	L	0.6	0.53731	T	-0.79	0.21860	N	0.03	0.00717	-1.0488	0.14733	T	0.078	0.31103	T	10	0.09397647	0.16674	T	0.15372	0.83494	D	0.101	0.28911	0.075	0.00517	0.367638622828	0.36380	0.16757897474813674	0.16677	0.894647151709	0.70397	0.819475531578	0.84947	D	0.011152	0.09990	T	-0.144445	0.29184	T	-0.445262	0.28220	T	0.29301992058754	0.24716	T	0.480552	0.14510	T	0.15430008	0.34932	0.1793036	0.40655	0.15430008	0.34931	0.1793036	0.40655	-1.539	0.01846	T	.	.	0.060	0.00919	B	.	.	3.217617	0.43821	21.8	0.98831101200191784	0.46952	0.55304	0.29830	D	AEFDBHCIJ	0.052950	0.09498	N	-0.424724002173416	0.24605	1.329748	-0.258590702986731	0.29477	1.651733	0.999999622365115	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	3.27	0.36580	1.494000	0.35225	8.749000	0.78216	0.658000	0.54486	0.996000	0.39380	1.000000	0.68203	0.942000	0.48361	0.6492:0.181:0.1698:0.0	4.400	0.10810	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	107.43	37	chr10	103368393	.	A	G	107.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.901;DP=424;ExcessHet=0;FS=40.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.13;ReadPosRankSum=-2.316;SOR=2.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,6:26:99:0|1:103368375_GCTCCGGAGCCCC_G:119,0,786:103368375	9	0	1	0
chr10	103368396	103368396	T	G	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon1:c.T407G:p.V136G,TAF5:NM_139052:exon1:c.T407G:p.V136G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0784865363874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.438e-06	7.61e-05	3.079e-06	7.841e-06	5.692e-05	2.26e-06	1.45e-06	9.43e-06	3.53e-06	0	5.692e-05	0	3.259e-05	0	0	3.945e-06	0	0	4.807e-05	0.0002	6.7e-05	2.817e-05	6.049e-05	2.195e-05	1.582e-05	2.011e-05	1.151e-05	2.502e-05	0	0	0	0	0.0002	0	6.049e-05	0	0	0.506	0.07594	T	0.391	0.15456	T	0.002	0.09854	B	0.003	0.08700	B	0.442574	0.12609	N	0.734402	0.866106	0.35476	D	-0.895	0.01383	N	0.73	0.50721	T	-0.15	0.09297	N	0.089	0.06720	-1.0591	0.11981	T	0.063	0.26279	T	10	0.052879363	0.05390	T	0.078487	0.73017	D	0.044	0.11924	0.113	0.02240	0.143184338766	0.13958	0.20401842641528983	0.20318	0.990479955859	0.74054	0.770609021187	0.77515	T	0.008563	0.07851	T	-0.170808	0.25112	T	-0.483131	0.24113	T	0.121761955320835	0.14601	T	0.279972	0.04873	T	0.042733803	0.06534	0.058080304	0.10671	0.042733803	0.06533	0.058080304	0.10670	-1.882	0.02765	T	.	.	0.051	0.00165	B	.	.	2.071018	0.26338	17.08	0.86345754343650649	0.16475	0.72394	0.35436	D	AEFDBHCIJ	0.187123	0.31442	N	-0.727865208978981	0.15241	0.7663986	-0.601647704353175	0.19451	1.043616	0.999998671693393	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	4.45	-1.59	0.08003	0.652000	0.24573	-0.184000	0.11104	0.580000	0.29708	0.976000	0.34826	0.582000	0.25626	0.975000	0.56047	0.1471:0.5411:0.0:0.3117	6.911	0.23515	237	0.90758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004592	0.010638	0.004144	0.000000	0.000000	0.000000	0.009202	0.003817	0.0625	108.73	37	chr10	103368396	.	T	G	108.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.529;DP=393;ExcessHet=0;FS=33.274;InbreedingCoeff=-0.1112;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=4.53;ReadPosRankSum=-1.863;SOR=1.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:103368375_GCTCCGGAGCCCC_G:119,0,746:103368375	7	0	1	2
chr10	103379720	103379720	G	A	exonic	TAF5	.	nonsynonymous SNV	TAF5:NM_006951:exon4:c.G1226A:p.S409N,TAF5:NM_139052:exon4:c.G1226A:p.S409N	.	426	1064	30	2	0	34	0.0157262	.	.	.	806380	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.048	.	0.0056	0.00399361	0.0056	0.0011	0.0016	0	0.0003	0.0062	0.0055	0.0140	0.0057373	887	154602	rs142451092	0.0076	0.0076	0.0075	0.0078	0.0134	0.0075	0.0074	0.0121	0.0119	0.0009	0.0017	0.0087	2.524e-05	0.0004	0.0134	0.0083	0.0069	0.0128	0.0042	0.0042	0.0042	0.0043	0.0131	0.0040	0.0039	0.0105	0.0095	0.0013	0	0.0021	0.0113	0	0.0002	0	0.0065	0.0062	0.0131	0.422	0.09776	T	0.293	0.20811	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.84330	D	0.036225	0.999757	0.48800	D	0.44	0.12706	N	0.64	0.52867	T	-1.11	0.28703	N	0.176	0.18920	-1.0525	0.13709	T	0.056	0.23413	T	10	0.0035065114	0.00063	T	.	.	.	0.048	0.13305	.	.	0.529862097387	0.52634	0.3373209658794253	0.33645	0.713057731645	0.61797	0.604621291161	0.53557	T	0.013891	0.11931	T	-0.560698	0.00251	T	-0.567149	0.15713	T	0.0121472111995332	0.00194	T	0.79622	0.43953	T	0.13390729	0.31129	0.15192956	0.35767	0.13390729	0.31129	0.15192956	0.35766	-4.102	0.25320	T	.	.	0.094	0.14339	B	.	.	2.200970	0.28072	17.67	0.89981633994300625	0.19274	0.96506	0.69479	D	AEFBI	0.528536	0.55002	D	-0.143862010913901	0.35496	2.03962	0.105540337948869	0.44831	2.757352	0.99482769110017	0.33818	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.64	5.64	0.86480	4.786000	0.62117	5.017000	0.46715	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.1431:0.0:0.8569:0.0	11.099	0.47386	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.006793	0.029240	0.000000	0.000000	0.021341	0.011364	0.05	749.43	33	chr10	103379720	.	G	A	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.131;DP=377;ExcessHet=0;FS=2.074;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.006;SOR=0.422	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	9	0	1	0
chr10	103418623	103418623	G	A	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon15:c.G2095A:p.E699K	.	434	1083	5	0	0	5	0.00230309	.	.	.	2809590	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.110	0.00567701562311	0.0051	0.00219649	0.0052	0.0012	0.0014	0	0.0094	0.0073	0.0068	0.0027	0.0052651	814	154602	rs61751510	0.0064	0.0064	0.0064	0.0065	0.0072	0.0063	0.0063	0.0070	0.0070	0.0011	0.0018	0.0061	2.519e-05	0.0097	0.0017	0.0072	0.0059	0.0028	0.0054	0.0054	0.0055	0.0054	0.0080	0.0051	0.0050	0.0074	0.0072	0.0013	0.0121	0.0044	0.0078	0	0.0101	0	0.0080	0.0043	0.0019	0.609	0.05485	T	0.969	0.02490	T	0.023	0.18885	B	0.004	0.10090	B	0.013181	0.28922	N	0.432766	0.999997	0.08975	N	0.805	0.20218	L	3.07	0.08547	T	-0.13	0.08971	N	0.238	0.26837	-0.9470	0.41481	T	0.009	0.03096	T	10	0.0046842396	0.00098	T	0.005677	0.14712	T	0.110	0.31079	.	.	0.276898752692	0.27294	0.3493792830154974	0.34851	0.23519781941	0.26047	0.367246687412	0.20436	T	0.004399	0.03807	T	-0.496495	0.00598	T	-0.478138	0.24643	T	0.014170967594497	0.00278	T	0.786321	0.42483	T	0.049959395	0.08952	0.068914	0.14454	0.049959395	0.08951	0.068914	0.14454	-1.833	0.02609	T	.	.	0.087	0.11414	B	.;.	.;.	2.201273	0.28072	17.68	0.90189537334256509	0.19465	0.78823	0.38949	D	AEFBCI	0.070361	0.13965	N	-0.537298051942192	0.20883	1.104244	-0.380237144622544	0.25587	1.408014	0.998068249172889	0.36380	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	5.02	0.66742	3.538000	0.53352	7.421000	0.58716	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.169000	0.20946	0.1413:0.0:0.8587:0.0	10.697	0.45104	219	0.91485	.;S1 domain|RNA-binding domain, S1	.	.	.	.	rs61751510	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	2191.43	169	chr10	103418623	.	G	A	2191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.72;DP=506;ExcessHet=0;FS=4.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.473;SOR=0.407	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1149	9	0	1	0
chr10	103442334	103442334	G	T	exonic	PDCD11	.	nonsynonymous SNV	PDCD11:NM_014976:exon32:c.G4829T:p.R1610L	.	422	1075	24	1	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.0367462078812	0.0008	0.000599042	0.0018	0.0002	0.0023	0	0.0003	0.0022	0.0011	0.0019	0.0016235	251	154602	rs146747336	0.0013	0.0013	0.0012	0.0014	0.0114	0.0012	0.0012	0.0092	0.0084	0.0004	0.0018	0.0007	2.519e-05	0.0001	0.0114	0.0013	0.0019	0.0021	0.0012	0.0012	0.0012	0.0012	0.0027	0.0011	0.0010	0.0020	0.0018	0.0002	0	0.0027	0.0003	0	9.414e-05	0.0102	0.0017	0.0019	0.0017	0.003	0.68238	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.86	0.95841	H	0.35	0.58029	T	-5.45	0.85468	D	0.938	0.94432	-0.2425	0.76561	T	0.377	0.73475	T	10	0.13564369	0.25810	T	0.036746	0.57186	D	0.654	0.86986	.	.	0.852766357386	0.85135	0.6665941392184932	0.66597	0.883252375535	0.69847	0.649729847908	0.59948	T	0.309287	0.68132	T	0.0350935	0.56401	T	0.271157	0.86636	D	0.185547338264019	0.19579	T	0.940606	0.78488	D	0.7041179	0.78283	0.56602	0.74880	0.7041179	0.78284	0.56602	0.74881	-12.067	0.85175	D	.	.	0.601	0.70856	P	.;.	.;.	4.526875	0.71028	25.6	0.99811934372495681	0.89531	0.98332	0.81714	D	AEFDGBCI	0.879771	0.80595	D	0.77631878431213	0.84606	8.334682	0.706344262369974	0.82860	7.873137	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	9.354000	0.96488	11.749000	0.95364	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.122000	0.19250	0.0:0.0:1.0:0.0	19.250	0.93908	227	0.91186	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009073	0.000000	0.017663	0.014620	0.050000	0.000000	0.003067	0.003788	0.05	353.43	36	chr10	103442334	.	G	T	353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.476;DP=363;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0.387;SOR=0.929	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr10	103473561	103473561	C	A	exonic	CALHM3	.	nonsynonymous SNV	CALHM3:NM_001129742:exon3:c.G687T:p.E229D	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0200583200693	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs764564522	6.791e-05	6.498e-05	7.053e-05	6.522e-05	0.0019	5.672e-05	5.268e-05	0.0011	0.0008	3.165e-05	0.0002	0	0	0	0.0019	4.912e-05	0.0002	0.0002	9.188e-05	9.186e-05	0.0001	6.71e-05	0.0004	5.521e-05	4.36e-05	7.907e-05	5.993e-05	0	0	6.53e-05	0	0	0	0.0034	0.0001	0	0.0004	0.014	0.53172	D	0.021	0.58089	D	.	.	.	.	.	.	0.000005	0.62929	D	0.061154	0.993476	0.41951	D	2.075	0.57047	M	2.15	0.19311	T	-2.31	0.51319	N	0.651	0.66187	-1.0916	0.05270	T	0.082	0.32411	T	10	0.396944	0.55294	T	0.020058	0.42574	T	0.160	0.41473	0.366	0.37361	0.134241683229	0.13084	0.46104046279709593	0.46022	.	.	0.79662168026	0.81449	T	0.041443	0.25860	T	-0.307966	0.07928	T	-0.410848	0.32128	T	0.348093599081039	0.26944	T	0.853415	0.53896	D	0.27270666	0.50339	0.29651344	0.55683	0.27270666	0.50339	0.29651344	0.55683	-4.862	0.35305	T	.	.	0.424	0.60884	A	.	.	3.777977	0.54301	23.5	0.99812589362195903	0.89620	0.90466	0.51665	D	AEFDBIJ	0.386955	0.46712	N	0.494920238967499	0.66793	4.996224	0.511576269708431	0.68767	5.265843	0.999998193613234	0.74766	0.514905	0.20481	0	0.491513	0.07743	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.695000	0.25205	3.191000	0.36704	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:0.8005:0.0:0.1995	7.418	0.26225	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002370	0.000000	0.000000	0.008696	0.000000	0.000000	0.000000	0.011111	0.05	1837.43	37	chr10	103473561	.	C	A	1837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.125;DP=530;ExcessHet=0;FS=4.575;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.75;SOR=0.678	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr10	103602141	103602141	G	A	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon9:c.C2720T:p.A907V,SH3PXD2A:NM_014631:exon14:c.C2993T:p.A998V	.	427	1092	3	0	0	3	0.00137174	.	.	.	2285490	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0336813566423	.	.	6.275e-05	0	0.0002	0	0	7.823e-05	0	0	4.53e-05	7	154602	rs778867319	3.647e-05	3.967e-05	3.05e-05	4.258e-05	0.0002	2.832e-05	2.564e-05	2.88e-05	2.553e-05	0	4.789e-05	4.222e-05	0	0	0.0002	3.846e-05	3.406e-05	4.989e-05	1.314e-05	1.313e-05	0	2.69e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.181	0.21884	T	0.427	0.13832	T	0.321	0.36046	B	0.101	0.37080	B	0.065420	0.21883	N	0.503510	1	0.08975	N	0	0.06538	N	0.62	0.53516	T	-0.32	0.12283	N	0.142	0.16725	-1.0449	0.15854	T	0.095	0.36003	T	10	0.06058836	0.07465	T	0.033681	0.55150	D	0.093	0.26882	0.152	0.05544	0.398283496042	0.39440	0.43179688616529655	0.43096	0.444622479715	0.44363	0.390740573406	0.23773	T	0.011506	0.10257	T	-0.244567	0.14771	T	-0.403807	0.32943	T	0.0619511866926315	0.07473	T	0.79582	0.44001	T	0.04380937	0.06895	0.049669407	0.07639	0.04380937	0.06894	0.049669407	0.07638	-5.054	0.37769	T	.	.	0.085	0.13080	B	.;.	.;.	1.191062	0.15824	12.13	0.9245954923151124	0.21885	0.14495	0.18433	N	AEFDBCI	0.090008	0.18242	N	-0.693309431649439	0.16211	0.8239244	-0.72185623810965	0.16417	0.8683759	0.998898414070815	0.37915	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.27	2.02	0.25641	1.325000	0.33330	6.115000	0.53713	0.590000	0.31872	0.001000	0.13787	0.997000	0.33255	0.021000	0.11733	0.0:0.266:0.5134:0.2206	8.274	0.31022	85	0.96447	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1092.43	95	chr10	103602141	.	G	A	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.357;DP=887;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.038;SOR=1.153	GT:AD:DP:GQ:PL	0/0:90,0:90:99:0,120,1800	9	0	1	0
chr10	104358459	104358459	A	G	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon2:c.A128G:p.Y43C	.	433	1075	13	1	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	.	7.7e-05	0.00259585	0.0017	9.804e-05	0.0003	0.0001	0	0.0001	0.0011	0.0114	0.0014101	218	154602	rs368634585	0.0008	0.0008	0.0005	0.0011	0.0119	0.0008	0.0007	0.0113	0.0110	0	0.0002	0	2.519e-05	0	0.0016	5.576e-05	0.0008	0.0119	0.0003	0.0003	0.0002	0.0005	0.0089	0.0003	0.0002	0.0068	0.0061	0	0	0.0002	0	0	0	0	5.881e-05	0	0.0089	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000009	0.62929	D	0.114128	0.999991	0.81001	D	.	.	.	0.24	0.59583	T	-8.17	0.96779	D	0.883	0.88137	0.166	0.85336	D	0.488	0.80515	T	10	0.015150338	0.00318	T	.	.	.	0.534	0.80426	.	.	0.484182897458	0.48051	0.761750114499266	0.76123	0.311889514168	0.33491	0.728229939938	0.71248	T	0.311709	0.68358	T	-0.0048353	0.50985	T	0.229673	0.84653	D	0.213273793058904	0.21123	T	0.919108	0.70849	D	0.8232791	0.85442	0.8305938	0.90223	0.8232791	0.85443	0.8305938	0.90224	-10.999	0.79653	D	.	.	0.846	0.79542	P	.	.	4.738330	0.76383	26.5	0.99840437554188732	0.92057	0.96648	0.70202	D	AEFI	0.843372	0.76041	D	0.888156312809238	0.91168	10.74845	0.821724997600397	0.91261	10.79824	0.999986608286928	0.51787	0.549168	0.22868	0	0.610034	0.51514	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	5.57	5.57	0.84021	6.006000	0.70384	9.266000	0.79598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.035	0.80419	130	0.94779	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.011364	0.05	1078.43	34	chr10	104358459	.	A	G	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.805;DP=402;ExcessHet=0;FS=2.969;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=2.06;SOR=1.112	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1139	9	0	1	0
chr10	104454495	104454495	G	A	exonic	CFAP58	.	nonsynonymous SNV	CFAP58:NM_001008723:exon18:c.G2584A:p.G862R	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.191804016499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs766303918	2.737e-06	3.42e-06	4.085e-06	1.375e-06	1.16e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	1.16e-05	6.573e-06	6.567e-06	1.285e-05	0	6.551e-05	0	0	.	.	0	0	6.551e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000325	0.45700	N	0.187572	0.999999	0.58761	D	.	.	.	-2.0	0.85393	D	-4.58	0.78807	D	0.777	0.77413	0.730	0.93546	D	0.786	0.92740	D	10	0.8125957	0.80528	D	0.191804	0.86206	D	0.692	0.88820	0.38	0.39645	0.484763619824	0.48107	0.5213949821049538	0.52062	0.304478965175	0.32754	0.482314318419	0.36375	T	0.200426	0.55801	T	0.321389	0.84571	D	0.324507	0.89281	D	0.998089015483856	0.93188	D	0.880612	0.59878	D	0.71213835	0.78725	0.7046215	0.82589	0.71213835	0.78726	0.7046215	0.82590	-3.238	0.12951	T	.	.	0.806	0.77569	P	.	.	4.728184	0.76132	26.5	0.99889918980979797	0.96436	0.98369	0.82077	D	AEFI	0.639845	0.61775	D	0.740293023119952	0.82272	7.721707	0.645460077616794	0.78272	6.843141	0.772070067368339	0.23689	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.47	5.47	0.80345	5.609000	0.67343	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.193000	0.21690	0.0:0.0:1.0:0.0	16.837	0.85823	171	0.93390	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1897.43	38	chr10	104454495	.	G	A	1897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.933;DP=472;ExcessHet=0;FS=1.243;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.289;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1186	9	0	1	0
chr10	105214552	105214552	C	A	exonic	SORCS3	.	nonsynonymous SNV	SORCS3:NM_014978:exon18:c.C2486A:p.T829N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0211153266634	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049219004	2.056e-06	2.052e-06	1.364e-06	2.756e-06	9.002e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	9.002e-07	3.319e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.479	0.11933	T	0.271	0.31796	B	0.158	0.34617	B	0.104165	0.19715	N	0.516189	1	0.08975	N	0.345	0.11182	N	0.18	0.60361	T	-0.49	0.15578	N	0.245	0.27673	-1.0533	0.13493	T	0.079	0.31284	T	9	0.08132401	0.13300	T	0.021115	0.43839	T	0.044	0.11924	0.449	0.50957	0.464014491786	0.46025	0.6047035298714256	0.60401	0.387281543766	0.40007	0.470552563667	0.34755	T	0.021706	0.16859	T	-0.243631	0.14890	T	-0.587736	0.13863	T	0.110513904560129	0.13476	T	0.652235	0.26282	T	0.05610791	0.10994	0.05256115	0.08682	0.05610791	0.10994	0.05256115	0.08681	-7.409	0.56968	T	.	.	0.066	0.02285	B	.;.	.;.	2.595412	0.33679	19.41	0.94284610983765116	0.24582	0.09461	0.15211	N	AEFI	0.091106	0.18457	N	-0.613313705313918	0.18542	0.9635743	-0.548681684233471	0.20841	1.124714	1.9227982636372E-4	0.05898	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.89	2.54	0.29674	1.369000	0.33832	3.434000	0.38335	0.597000	0.34315	0.002000	0.15269	0.998000	0.33993	0.972000	0.54974	0.1166:0.5722:0.1141:0.1971	4.304	0.10384	159	0.93837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	883.43	38	chr10	105214552	.	C	A	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.37;DP=463;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=-1.07;SOR=0.794	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr10	110133616	110133619	TAAA	-	exonic	ADD3	.	nonframeshift deletion	ADD3:NM_001121:exon14:c.2023_2026del:p.*675*,ADD3:NM_019903:exon14:c.2023_2026del:p.*675*,ADD3:NM_001320592:exon15:c.2119_2122del:p.*707*,ADD3:NM_001320593:exon15:c.2119_2122del:p.*707*,ADD3:NM_016824:exon15:c.2119_2122del:p.*707*,ADD3:NM_001320591:exon16:c.2119_2122del:p.*707*,ADD3:NM_001320594:exon16:c.1885_1888del:p.*629*	Cerebral palsy, spastic quadriplegic, 3, Autosomal recessive	452	1067	3	0	0	3	0.00140384	.	.	.	438723	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0004	0.0001	8.781e-05	0	0	0.0006	0	0.0002	0.0002781	43	154602	rs753541585	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0037	0.0032	9.631e-05	0.0001	0.0041	2.542e-05	0	0.0052	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	9.662e-05	0	0.0002	0.0035	0	0	0	0.0003	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	172.04	16	chr10	110133615	.	CTAAA	C	172.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.532;DP=164;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.064;SOR=0.631	GT:AD:DP:GQ:PL	0/0:17,0:17:39:0,39,585	8	0	1	1
chr10	110821789	110821789	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon11:c.G3170A:p.R1057Q	Cardiomyopathy, dilated, 1DD, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	53172	not_provided|Dilated_cardiomyopathy_1DD|Cardiovascular_phenotype|Cardiomyopathy|not_specified	MedGen:C3661900|MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	.	0.0007	0.0175719	0.0190	0.0028	0.0025	0.0371	0	0.0001	0.0083	0.0480	0.0036351	562	154602	rs188054898	0.0035	0.0034	0.0023	0.0048	0.0478	0.0035	0.0034	0.0465	0.0460	0.0003	0.0003	0.0001	0.0196	2.029e-05	0.0032	7.044e-05	0.0062	0.0478	0.0029	0.0029	0.0021	0.0038	0.0522	0.0027	0.0026	0.0469	0.0449	0.0007	0	0.0006	0	0.0267	0	0.0034	0.0002	0.0028	0.0522	1.0	0.00964	T	0.734	0.05090	T	.	.	.	.	.	.	0.194049	0.16770	N	0.522587	1	0.08975	N	.	.	.	-2.44	0.88767	D	0.64	0.02368	N	0.021	0.00339	-0.7578	0.57525	T	0.139	0.45753	T	10	0.0013362169	0.00014	T	.	.	.	0.143	0.38195	.	.	.	.	0.06356788003159516	0.06295	.	.	0.170280694962	0.00033	T	.	.	.	-0.534412	0.00362	T	-0.506114	0.21714	T	0.000142283328084959	0.00001	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01834	B	.	.	-0.235982	0.02913	0.421	0.68220209598551618	0.08591	0.03039	0.07929	N	AEFBI	0.069250	0.13697	N	-1.29679585936069	0.03714	0.1664048	-1.19112917678938	0.06057	0.2904241	0.999949069522772	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.93	-4.26	0.03497	-0.258000	0.08754	-1.617000	0.05052	-0.153000	0.12021	0.016000	0.19238	0.000000	0.08366	0.808000	0.38083	0.593:0.1257:0.167:0.1143	4.144	0.09674	916	0.20744	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003555	0.000000	0.000000	0.004425	0.000000	0.000000	0.005618	0.011905	0.05	2162.43	38	chr10	110821789	.	G	A	2162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.917;DP=556;ExcessHet=0;FS=3.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.265;SOR=0.472	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1216	9	0	1	0
chr10	111078748	111078748	C	G	exonic	ADRA2A	.	nonsynonymous SNV	ADRA2A:NM_000681:exon1:c.C752G:p.P251R	.	286	1217	19	0	0	19	0.00774562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	.	0.023762	0.0141	0	0.0014	0.0077	0	0	0	0.1798	0.0079947	1236	154602	rs375697365	0.0045	0.0051	0.0026	0.0065	0.0910	0.0044	0.0044	0.0890	0.0882	3.779e-05	0.0001	0	0.0034	0	0.0038	4.54e-05	0.0061	0.0910	0.0033	0.0033	0.0017	0.0050	0.0960	0.0031	0.0030	0.0888	0.0859	9.65e-05	0	0.0008	0	0.0037	0	0	2.95e-05	0.0014	0.0960	0.033	0.44358	D	0.048	0.48594	D	.	.	.	.	.	.	0.002693	0.00908	U	8.920880	1	0.08975	N	.	.	.	-0.13	0.64818	T	-1.11	0.28703	N	0.169	0.17966	-0.9753	0.36059	T	0.189	0.54019	T	10	0.0013929904	0.00015	T	.	.	.	0.109	0.30843	.	.	0.551344072312	0.54791	0.49099629110237214	0.49020	.	.	0.856488347054	0.90589	D	.	.	.	-0.512724	0.00484	T	-0.412553	0.31931	T	0.00441534719150818	0.00047	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	2.724763	0.35650	19.95	0.9154680438930568	0.20824	0.07155	0.13180	N	AEFDBCI	0.086527	0.17544	N	-0.671328715862301	0.16841	0.8616187	-0.654172431740839	0.18111	0.9660849	0.995644396510623	0.34242	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.93	2.94	0.33188	2.040000	0.40824	5.248000	0.48084	0.502000	0.22824	0.098000	0.22752	0.985000	0.30750	0.622000	0.31948	0.1712:0.6819:0.1469:0.0	8.822	0.34193	888	0.27761	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007591	0.000000	0.004110	0.008982	0.000000	0.000000	0.000000	0.034091	0.05	1271.43	33	chr10	111078748	.	C	G	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.79;DP=432;ExcessHet=0;FS=4.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.597;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	9	0	1	0
chr10	113581936	113581936	C	G	exonic	HABP2	.	nonsynonymous SNV	HABP2:NM_001177660:exon9:c.C821G:p.S274C,HABP2:NM_004132:exon9:c.C899G:p.S300C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.100950953564	.	.	.	.	.	.	.	.	.	.	.	.	.	rs141394312	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.016	0.64786	D	0.966	0.56202	D	0.502	0.47702	P	0.024218	0.26302	N	0.436150	1	0.81001	D	1.625	0.41611	L	-3.18	0.93111	D	-2.22	0.50337	N	0.377	0.42345	0.654	0.92595	D	0.773	0.92273	D	10	0.42085943	0.56853	T	0.100951	0.77354	D	0.334	0.65620	0.396	0.42262	0.80738892488	0.80558	0.490733236802054	0.48993	0.0254376419855	0.02595	0.345675230026	0.17283	T	0.058332	0.30813	T	0.0652001	0.60259	T	-0.144121	0.59759	T	0.880975127220154	0.53101	D	0.69603	0.30552	T	0.13781139	0.31896	0.10578377	0.25437	0.13781139	0.31896	0.10578377	0.25436	-8.314	0.63190	D	.	.	0.225	0.46073	B	.;.	.;.	2.779743	0.36511	20.3	0.98625604425919278	0.43839	0.78156	0.38518	D	AEFDBI	0.888068	0.82084	D	0.0124973316420304	0.42423	2.555796	-0.0817904961799284	0.36142	2.099658	0.828903144242425	0.24657	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	6.17	5.27	0.73797	1.825000	0.38720	2.756000	0.34570	0.599000	0.40250	0.088000	0.22533	0.463000	0.25012	0.125000	0.19370	0.0:0.9311:0.0:0.0689	14.192	0.65187	890	0.26919	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2447.43	147	chr10	113581936	.	C	G	2447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.829;DP=465;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=0.375;SOR=0.598	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1197	9	0	1	0
chr10	113849814	113849814	C	T	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.G1291A:p.D431N,DCLRE1A:NM_001271816:exon3:c.G1291A:p.D431N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00887842971606	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1009125468	5.473e-06	5.472e-06	4.084e-06	6.876e-06	0.0003	2.35e-06	1.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	8.279e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.239	0.24477	T	0.0	0.02946	B	0.001	0.04355	B	0.042187	0.01902	N	1.926380	1	0.08975	N	1.01	0.25309	L	-0.26	0.67187	T	-0.79	0.21860	N	0.106	0.09207	-1.0172	0.24625	T	0.181	0.52813	T	10	0.072292775	0.10773	T	0.008878	0.23415	T	0.082	0.23913	0.179	0.08626	0.539388553722	0.53591	0.13601418008927102	0.13525	0.110930127955	0.12519	0.201636061072	0.00506	T	0.093899	0.39306	T	-0.298556	0.08796	T	-0.666632	0.07826	T	0.0826666536775539	0.10325	T	0.576042	0.20701	T	0.02727979	0.01897	0.02421465	0.00438	0.02727979	0.01897	0.02421465	0.00437	-3.221	0.12739	T	.	.	0.073	0.05231	B	.;.	.;.	0.161434	0.05518	1.981	0.89235558252107627	0.18624	0.09751	0.15436	N	AEFDBI	0.063705	0.12327	N	-1.25490880754145	0.04235	0.1907473	-1.27298463520273	0.04799	0.2272386	0.999941663288518	0.47345	0.651	0.46895	0	0.627608	0.54475	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.93	-0.38	0.11868	-0.086000	0.11198	-0.891000	0.07028	-0.956000	0.02005	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2208:0.3803:0.2144:0.1844	1.462	0.02253	932	0.16191	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2908.43	33	chr10	113849814	.	C	T	2908.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.468;DP=478;ExcessHet=0;FS=4.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.31;ReadPosRankSum=-1.251;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr10	113850002	113850002	C	T	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.G1103A:p.R368Q,DCLRE1A:NM_001271816:exon3:c.G1103A:p.R368Q	.	423	1064	33	2	0	37	0.0170901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00900799210836	0.0018	0.000998403	0.0028	0.0002	0.0004	0	0.0003	0.0028	0.0099	0.0078	0.0026326	407	154602	rs34407062	0.0030	0.0030	0.0027	0.0032	0.0091	0.0029	0.0029	0.0085	0.0083	0.0007	0.0007	0.0018	0	0.0007	0.0085	0.0029	0.0030	0.0091	0.0018	0.0018	0.0018	0.0018	0.0089	0.0016	0.0016	0.0068	0.0061	0.0004	0	0.0006	0.0012	0	0.0002	0.0170	0.0028	0.0028	0.0089	1.0	0.00964	T	0.965	0.02516	T	0.0	0.02946	B	0.0	0.01387	B	0.762884	0.09609	N	0.898328	1	0.08975	N	-1.445	0.00556	N	-0.07	0.63738	T	0.97	0.01467	N	0.023	0.00407	-0.9942	0.31512	T	0.056	0.23639	T	10	0.0034727156	0.00062	T	0.009008	0.23726	T	0.063	0.18251	.	.	0.46435556306	0.46064	0.05865013345647209	0.05806	0.130787246225	0.14758	0.202702075243	0.00539	T	0.035961	0.23920	T	-0.610291	0.00126	T	-0.643161	0.09441	T	0.00196664463206678	0.00020	T	0.534247	0.17838	T	0.020521026	0.00614	0.036115486	0.02995	0.020521026	0.00614	0.036115486	0.02994	-2.421	0.05263	T	.	.	0.062	0.01408	B	.;.	.;.	0.426492	0.07970	4.682	0.66527565912203024	0.08085	0.00128	0.00795	N	AEFBI	0.021531	0.00969	N	-1.41558403862917	0.02501	0.1105539	-1.28444773454241	0.04640	0.2193375	0.999778364301915	0.42865	0.566229	0.32551	0	0.586065	0.33999	0	0.658983	0.55881	0	0.674467	0.66132	0	.	.	6.02	2.4	0.28568	0.265000	0.18282	0.638000	0.20293	-0.114000	0.14653	0.000000	0.06391	0.419000	0.24798	0.112000	0.18829	0.1297:0.2833:0.0:0.587	4.842	0.12857	932	0.16191	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.006793	0.008772	0.000000	0.000000	0.009146	0.015152	0.05	1482.43	33	chr10	113850002	.	C	T	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=565;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.475;SOR=0.783	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr10	114045564	114045564	T	C	exonic	ADRB1	.	stoploss	ADRB1:NM_000684:exon1:c.T1432C:p.X478Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.777e-07	3.42e-06	1.685e-06	0	3.074e-05	0	0	.	.	0	0	0	0	0	0	0	0	3.074e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.139	0.13769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0579252	0.43231	T	-0.320982	0.42467	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.222652	0.28365	17.77	0.85130747262349626	0.15704	0.82968	0.42128	D	ALL	.	.	.	0.766374435628293	0.83966	8.158167	0.548962284281073	0.71323	5.637661	0.999936372731032	0.46732	0.166803	0.03914	0	0.067947	0.01809	2	0.182457	0.04408	0	0.175304	0.04163	0	0.170224	0.28860	4.45	4.45	0.53365	1.319000	0.33260	7.399000	0.58563	0.515000	0.23462	0.997000	0.40164	1.000000	0.68203	0.755000	0.35964	0.0:0.0:0.1712:0.8288	9.929	0.40681	762	0.50290	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	483.43	34	chr10	114045564	.	T	C	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.864;DP=379;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=-0.245;SOR=0.493	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	9	0	1	0
chr10	114218525	114218525	G	A	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385366:exon17:c.G2264A:p.R755Q,TDRD1:NM_001385371:exon17:c.G2291A:p.R764Q,TDRD1:NM_001365891:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385363:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385364:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385365:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385367:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385368:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385369:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385372:exon18:c.G2435A:p.R812Q,TDRD1:NM_198795:exon18:c.G2435A:p.R812Q	.	.	.	.	.	.	.	.	.	.	.	4080702	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00571566763944	7.7e-05	.	9.896e-05	0	8.663e-05	0	0	0.0001	0	6.075e-05	7.76e-05	12	154602	rs370338316	5.069e-05	5.062e-05	5.726e-05	4.406e-05	9.307e-05	4.131e-05	3.784e-05	4.592e-05	3.841e-05	0	4.498e-05	0	0	0	0	5.402e-05	6.632e-05	9.307e-05	5.913e-05	5.91e-05	5.138e-05	6.724e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	4.824e-05	0	0	0	0	0	0	0.0001	0	0	0.487	0.08067	T	0.626	0.07368	T	0.024	0.19075	B	0.003	0.08700	B	0.036893	0.24467	N	0.441048	1	0.08975	N	0.745	0.18958	N	2.68	0.12371	T	-2.24	0.50175	N	0.167	0.18649	-0.9633	0.38547	T	0.018	0.07470	T	10	0.06259945	0.08029	T	0.005716	0.14802	T	0.043	0.11576	.	.	0.123314135267	0.11883	0.5877222469381689	0.58702	0.221771950682	0.24716	0.229322627187	0.01918	T	.	.	.	-0.499366	0.00576	T	-0.718413	0.04873	T	0.0364241159083198	0.03054	T	0.751225	0.37284	T	.	.	.	.	.	.	.	.	-3.327	0.14087	T	.	.	0.062	0.01252	B	.;.;.	.;.;.	1.308484	0.17114	12.97	0.90148493990270506	0.19427	0.04824	0.10550	N	AEFI	0.084639	0.17154	N	-1.00400769864412	0.08520	0.3997998	-1.00620906739242	0.09648	0.4812304	1.35102062121794E-5	0.02871	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.79	0.774	0.17665	1.716000	0.37601	0.450000	0.18513	-0.116000	0.14526	0.021000	0.19753	0.001000	0.17328	0.332000	0.25247	0.4015:0.0:0.5985:0.0	7.943	0.29129	899	0.25060	Tudor domain|Tudor domain|Tudor domain;.;Tudor domain|Tudor domain|Tudor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1532.43	34	chr10	114218525	.	G	A	1532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.137;DP=453;ExcessHet=0;FS=2.13;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.96;SOR=0.881	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1289	9	0	1	0
chr10	114288964	114288964	G	A	exonic	VWA2	.	nonsynonymous SNV	VWA2:NM_001272046:exon12:c.G1597A:p.V533I,VWA2:NM_001320804:exon12:c.G1597A:p.V533I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0384220636244	.	.	7.698e-05	0.0003	0	0	0.0003	1.526e-05	0	0.0002	5.82e-05	9	154602	rs764526217	3.493e-05	3.489e-05	3.133e-05	3.856e-05	0.0003	2.7e-05	2.441e-05	0.0001	0.0001	0.0003	0	7.689e-05	0	0.0002	0	1.08e-05	3.316e-05	0.0002	0.0001	0.0001	7.708e-05	0.0001	0.0003	6.513e-05	5.324e-05	0.0001	0.0001	0.0003	0	0	0	0	0.0002	0	2.94e-05	0	0.0002	0.039	0.42487	D	0.032	0.53426	D	0.3	0.32550	B	0.072	0.31539	B	0.001643	0.38382	N	0.218004	0.934649	0.26964	N	2.45	0.71042	M	-2.05	0.85799	D	-0.64	0.18670	N	0.216	0.24135	-0.5173	0.68015	T	0.470	0.79610	T	10	0.19865465	0.35844	T	0.038422	0.58216	D	0.321	0.64318	.	.	0.143124449307	0.13826	0.3345963116267219	0.33372	0.114344148871	0.12892	0.317299723625	0.13012	T	0.048792	0.28119	T	-0.294809	0.09159	T	-0.365057	0.37467	T	0.0687334796686032	0.08472	T	0.654634	0.26482	T	0.029482506	0.02450	0.05786791	0.10597	0.029482506	0.02450	0.05786791	0.10596	-8.284	0.62988	D	0.19796148420991905	0.26198	0.095	0.15115	B	.;.	.;.	2.108971	0.26836	17.26	0.97291032757653839	0.33233	0.86549	0.45852	D	AEFDBCI	0.367295	0.45480	N	-0.358288176454792	0.26969	1.47601	-0.314541418182612	0.27628	1.534456	0.607731468410432	0.21778	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.43	2.57	0.29928	4.217000	0.58344	3.313000	0.37480	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.311000	0.24761	0.1493:0.1371:0.7136:0.0	7.373	0.25986	632	0.64850	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1858.43	34	chr10	114288964	.	G	A	1858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=496;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.976;SOR=0.805	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr10	116626065	116626065	G	A	exonic	PNLIPRP2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.136719357756	.	0.000399361	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs534571957	5.748e-05	5.814e-05	4.085e-05	7.429e-05	0.0009	4.744e-05	4.367e-05	0.0007	0.0007	2.987e-05	0	0	0	0	0.0003	8.995e-07	6.627e-05	0.0009	5.909e-05	5.906e-05	2.57e-05	9.401e-05	0.0019	3.075e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	.	.	.	.	.	.	0.047	0.21998	B	0.065	0.27321	B	0.005418	0.32823	N	0.246012	0.570742	0.31180	N	.	.	.	-2.64	0.90147	D	.	.	.	0.208	0.28146	0.098	0.84129	D	0.640	0.87415	D	9	0.06265643	0.08043	T	0.136719	0.81921	D	.	.	0.602	0.73346	0.778831366137	0.77679	.	.	.	.	0.446976602077	0.31532	T	0.078059	0.87558	T	-0.0458669	0.45074	T	0.0571331	0.74054	D	0.551691949367523	0.34541	D	0.643636	0.25529	T	0.4852692	0.66219	0.5667859	0.74923	0.4852692	0.66219	0.5667859	0.74924	-5.338	0.40318	T	.	.	0.277	0.51059	B	.;.	.;.	2.324282	0.29769	18.23	0.71612935758230001	0.09688	0.94049	0.59959	D	AEFDBI	0.766403	0.70259	D	0.0630338263826961	0.44744	2.742922	0.225695674681507	0.51277	3.311705	0.99999993446864	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.056003	0.00319	0	0.062806	0.01542	0	.	.	5.86	5.86	0.93936	4.082000	0.57357	3.976000	0.40865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:0.0:1.0:0.0	19.334	0.94294	609	0.67094	Lipase/vitellogenin|Lipase, N-terminal;Lipase/vitellogenin|Lipase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1709.43	34	chr10	116626065	.	G	A	1709.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.226;DP=464;ExcessHet=0;FS=6.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=-0.913;SOR=0.51	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1203	9	0	1	0
chr10	116954207	116954207	T	G	exonic	SHTN1	.	nonsynonymous SNV	SHTN1:NM_001258298:exon4:c.A91C:p.N31H,SHTN1:NM_001127211:exon5:c.A271C:p.N91H,SHTN1:NM_001258299:exon5:c.A271C:p.N91H,SHTN1:NM_018330:exon5:c.A271C:p.N91H,SHTN1:NM_001258300:exon6:c.A91C:p.N31H	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.29008733691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363	0.59928	T	0.109	0.54159	T	0.999	0.90584	D	0.996	0.86255	D	0.000000	0.84330	D	0.000000	0.99953	0.47451	D	2.39	0.68882	M	-2.86	0.91533	D	-0.55	0.32991	N	0.838	0.84505	0.639	0.92402	D	0.832	0.94352	D	10	0.72045213	0.73627	D	0.290087	0.90533	D	0.389	0.70521	0.133	0.03747	0.756603776641	0.75439	0.40388825984333576	0.40304	1.27036212804	0.82256	0.823461413383	0.85559	D	0.143591	0.47978	T	0.150004	0.69268	D	-0.0223061	0.68877	D	0.833291908681574	0.48788	D	0.927907	0.75038	D	0.25162432	0.48172	0.24572617	0.50067	0.25162432	0.48172	0.24572617	0.50066	-10.494	0.79510	D	.	.	0.192	0.41280	B	.;.;.;.;.	.;.;.;.;.	4.402796	0.68047	25.2	0.99630241629271443	0.76020	0.96522	0.69560	D	AEBI	0.691429	0.65142	D	0.635551171276434	0.75435	6.305633	0.640993963762875	0.77941	6.777393	0.999999974485235	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	6.108000	0.71192	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.178	0.81689	612	0.66786	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	953.43	36	chr10	116954207	.	T	G	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.847;DP=349;ExcessHet=0;FS=3.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.104;SOR=1.552	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr10	117134075	117134075	G	A	exonic	VAX1	.	nonsynonymous SNV	VAX1:NM_001112704:exon3:c.C938T:p.S313F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.544276259804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.225e-07	1.368e-06	1.425e-06	0	9.324e-07	0	0	.	.	0	0	0	0	0	0	9.324e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.000150	0.49130	N	0.180559	0.996548	0.81001	D	2.465	0.71551	M	-3.66	0.95212	D	-2.03	0.46673	N	0.453	0.49055	0.900	0.95672	D	0.861	0.95383	D	10	0.5615797	0.64817	D	0.544276	0.95770	D	0.796	0.93306	0.43	0.47843	0.842724053085	0.84121	0.7161024678437394	0.71553	1.96496244728	0.93511	0.798766970634	0.81775	T	0.254781	0.62548	T	0.310452	0.83780	D	0.208166	0.83570	D	0.98175722360611	0.74092	D	0.889011	0.61998	D	0.4515985	0.64142	0.65866166	0.80006	0.4515985	0.64142	0.65866166	0.80007	-8.936	0.67284	D	.	.	0.991	0.94026	P	.	.	5.507627	0.91651	32	0.99712948146031288	0.81493	0.99163	0.92158	D	AEFDBCI	0.885020	0.81519	D	0.635147647452856	0.75410	6.301008	0.604212947180989	0.75246	6.276635	0.99997173872051	0.50053	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.22	4.22	0.49153	6.883000	0.75397	11.635000	0.93737	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.843:0.157	13.446	0.60591	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1849.43	35	chr10	117134075	.	G	A	1849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.125;DP=461;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=1.33;SOR=0.782	GT:AD:DP:GQ:PL	0/1:57,84:141:99:1861,0,1113	9	0	1	0
chr10	117254467	117254467	G	A	exonic	SLC18A2	.	nonsynonymous SNV	SLC18A2:NM_003054:exon6:c.G670A:p.A224T	.	.	.	.	.	.	.	.	.	.	.	1442180	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.471	0.0169745701376	0.0002	.	0.0001	0.0014	0	0	0	0	0	0	9.7e-05	15	154602	rs145374366	4.873e-05	5.062e-05	5.462e-05	4.278e-05	0.0009	3.939e-05	3.617e-05	0.0006	0.0006	0.0009	4.535e-05	3.874e-05	2.523e-05	0	0	3.155e-05	3.324e-05	0	0.0003	0.0003	0.0004	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0011	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.964	0.55854	D	0.668	0.53048	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	0.28	0.59037	T	-3.85	0.72353	D	0.816	0.81162	-0.2141	0.77307	T	0.398	0.75009	T	10	0.43062025	0.57466	T	0.016975	0.38486	T	0.471	0.76487	.	.	0.803198005799	0.80135	0.6405548206566508	0.63990	0.469475219527	0.46252	0.737298130989	0.72575	T	0.628129	0.88439	D	-0.0872796	0.38525	T	0.0563008	0.74000	D	0.395608431030983	0.28777	T	0.988826	0.96199	D	0.70503545	0.78333	0.775469	0.86752	0.70503545	0.78334	0.775469	0.86753	-10.156	0.74840	D	.	.	0.621	0.69738	P	.;.	.;.	5.475626	0.91325	32	0.99901159446530086	0.97275	0.96162	0.67817	D	AEFDBHCI	0.925306	0.90464	D	0.900837531841351	0.91799	11.07145	0.895168716732621	0.95358	13.54702	0.999999999998984	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.94	5.94	0.96165	9.886000	0.98550	11.717000	0.94751	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.359	0.98850	733	0.53988	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1185.43	34	chr10	117254467	.	G	A	1185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.653;DP=473;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.211;SOR=0.506	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1197,0,1830	9	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1574.67	137	chr10	117341050	.	C	T	1574.67	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.629;DP=814;ExcessHet=1.5895;FS=271.185;InbreedingCoeff=-0.3792;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=2.67;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:48,0:48:96:.:.:0,96,1232:.	3	0	4	3
chr10	118336373	118336373	C	T	exonic	FAM204A	.	nonsynonymous SNV	FAM204A:NM_001134672:exon2:c.G43A:p.A15T,FAM204A:NM_022063:exon3:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	4125521	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00632246015218	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765376062	1.437e-05	1.437e-05	1.771e-05	1.101e-05	1.8e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.8e-05	0	1.16e-05	3.29e-05	3.285e-05	1.286e-05	5.39e-05	7.253e-05	1.262e-05	7.99e-06	1.923e-05	1.033e-05	7.253e-05	0	6.563e-05	0	0	0	0	1.47e-05	0	0	0.022	0.52492	D	0.037	0.54159	D	0.501	0.37169	P	0.062	0.26930	B	0.247884	0.15572	N	0.633028	1	0.08975	N	0	0.06538	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0646	0.10642	T	0.041	0.17700	T	9	0.05672142	0.06401	T	0.006322	0.16610	T	0.205	0.49236	0.102	0.01589	0.0482279557977	0.04254	0.40897796532580216	0.40813	0.211961697235	0.23693	0.26521062851	0.05527	T	0.029674	0.21209	T	-0.266819	0.12114	T	-0.621043	0.11105	T	0.0795878937593602	0.09934	T	0.692631	0.30204	T	0.042350654	0.06407	0.06701561	0.13805	0.042350654	0.06407	0.06701561	0.13805	-2.632	0.06750	T	.	.	0.066	0.02399	B	.;.;.	.;.;.	2.025197	0.25739	16.87	0.93976475013754801	0.24054	0.37953	0.25878	N	AEFBI	0.036275	0.04807	N	-0.750294266246002	0.14624	0.73011	-0.736247108598667	0.16062	0.8478576	0.151196247893007	0.17443	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	-1.6	0.07977	0.121000	0.15496	-0.096000	0.11999	-0.182000	0.10109	0.965000	0.33920	0.000000	0.08366	0.750000	0.35786	0.0:0.4777:0.0:0.5223	11.177	0.47830	775	0.48401	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	115.43	75	chr10	118336373	.	C	T	115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.189;DP=572;ExcessHet=0;FS=284.034;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=-0.218;SOR=7.903	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1122	9	0	1	0
chr10	119036209	119036209	G	A	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon22:c.C3979T:p.P1327S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0027293586861	0.0003	0.000599042	0.0001	0.0012	8.639e-05	0	0	1.5e-05	0	0	0.00011	17	154602	rs141499066	3.147e-05	3.147e-05	3.947e-05	2.338e-05	0.0008	2.412e-05	2.157e-05	0.0006	0.0005	0.0008	2.236e-05	0	0	0	0.0002	7.194e-06	0.0001	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	6.558e-05	0	0	0	0	1.471e-05	0	0	0.027	0.46513	D	0.546	0.09555	T	0.267	0.31683	B	0.04	0.23831	B	0.001443	0.38980	N	0.000000	0.963135	0.38330	D	1.445	0.36358	L	1.79	0.25509	T	-1.32	0.32991	N	0.222	0.40164	-1.0603	0.11681	T	0.051	0.21533	T	10	0.02525258	0.00725	T	0.002729	0.05637	T	0.079	0.23065	.	.	0.271610670623	0.26767	0.06834432202209023	0.06772	0.495656575686	0.48101	0.543613314629	0.44956	T	0.02637	0.19527	T	-0.382597	0.03000	T	-0.372792	0.36564	T	0.0371014008793024	0.03174	T	0.80202	0.44827	T	0.053700767	0.10201	0.084391154	0.19409	0.053700767	0.10200	0.084391154	0.19409	-4.181	0.26476	T	.	.	0.097	0.15877	B	.;.	.;.	3.082825	0.41477	21.4	0.98826003708404542	0.46869	0.97229	0.73454	D	AEFBI	0.530034	0.55090	D	0.0157895399479564	0.42573	2.567711	0.211130224564031	0.50465	3.238202	0.999999979647481	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.03	6.03	0.97798	2.774000	0.47379	9.881000	0.82199	0.671000	0.69459	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.1678:0.8322:0.0	16.257	0.82347	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	370.43	34	chr10	119036209	.	G	A	370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.421;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.383;SOR=0.61	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	9	0	1	0
chr10	119042564	119042564	G	A	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon19:c.C2956T:p.R986W	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0341323498727	0.0002	0.00139776	0.0004	0.0003	0	0.0001	0	0.0001	0.0011	0.0019	0.0003558	55	154602	rs141034070	0.0002	0.0002	0.0002	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	5.974e-05	6.708e-05	0	0	0	0.0009	0.0002	0.0004	0.0018	0.0001	0.0001	0.0001	0.0002	0.0014	9.743e-05	8.257e-05	0.0007	0.0005	4.815e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0014	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.732	0.55359	P	0.002526	0.36389	N	0.000000	0.999991	0.58761	D	2.485	0.72352	M	1.77	0.26885	T	-2.15	0.58085	N	0.666	0.67477	-0.9456	0.41715	T	0.134	0.44798	T	10	0.014396191	0.00303	T	0.034132	0.55463	D	0.134	0.36365	.	.	0.324576393752	0.32066	0.24768130895775772	0.24682	1.42387211734	0.85668	0.64883518219	0.59821	T	0.040504	0.25549	T	-0.362936	0.03967	T	-0.301372	0.44580	T	0.164598350713293	0.18205	T	0.872913	0.58047	D	0.07432595	0.16673	0.10347316	0.24828	0.07432595	0.16672	0.10347316	0.24828	-11.406	0.81837	D	.	.	0.468	0.67369	A	.;.	.;.	4.058131	0.60201	24.2	0.99913525544672721	0.98238	0.92706	0.56347	D	AEFDBCI	0.722664	0.67252	D	0.432780873695907	0.63234	4.553216	0.403867746457139	0.61804	4.385942	0.999987371704914	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.82	4.9	0.63643	2.635000	0.46203	1.832000	0.29123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:0.5628:0.4372	13.106	0.58663	448	0.79501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2836.43	217	chr10	119042564	.	G	A	2836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.18;DP=533;ExcessHet=0;FS=5.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.072;SOR=1.097	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr10	119165545	119165545	C	T	exonic	SFXN4	.	nonsynonymous SNV	SFXN4:NM_213649:exon1:c.G103A:p.E35K	Combined oxidative phosphorylation deficiency 18, Autosomal recessive	381	1120	19	2	0	23	0.0101635	.	.	.	2347668	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.157050435121	7.7e-05	.	0.0001	0	0	0	0	8.044e-05	0.0012	0.0004	8.41e-05	13	154602	rs372672920	0.0001	0.0001	9.878e-05	0.0001	0.0016	8.899e-05	8.375e-05	0.0008	0.0006	0	4.743e-05	7.935e-05	0	0	0.0016	6.998e-05	0.0003	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	7.579e-05	6.283e-05	9.049e-05	7.013e-05	9.648e-05	0	0	0	0	0	0.0032	0.0002	0	0.0004	0.029	0.45756	D	0.063	0.45110	T	0.929	0.51690	P	0.435	0.45529	B	0.210870	0.16369	N	0.574289	1	0.08975	N	2.175	0.60977	M	1.39	0.33842	T	-2.02	0.46503	N	0.326	0.36674	-1.0349	0.18888	T	0.064	0.26420	T	10	0.13516244	0.25721	T	0.15705	0.83771	D	0.130	0.35528	.	.	0.243398259712	0.23965	0.3819189429750552	0.38106	0.774241338114	0.64942	0.565121591091	0.47989	T	0.083098	0.36976	T	-0.377941	0.03209	T	-0.446512	0.28083	T	0.0676171208650311	0.08312	T	0.592841	0.21881	T	0.39509577	0.60392	0.32366663	0.58297	0.51960593	0.68238	0.3662674	0.61959	-5.933	0.45716	T	.	.	0.174	0.38080	B	.	.	1.999558	0.25404	16.75	0.99415485706154727	0.63501	0.06565	0.12579	N	ALL	0.069066	0.13654	N	-0.748737879483786	0.14668	0.7325966	-0.886815717152656	0.12405	0.6379448	0.999999999995417	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.68	0.662	0.17049	0.007000	0.13074	-0.168000	0.11254	-1.268000	0.01283	0.004000	0.16614	0.000000	0.08366	0.523000	0.29544	0.0:0.5285:0.4715:0.0	12.668	0.56219	750	0.51762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002016	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	553.43	35	chr10	119165545	.	C	T	553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.86;DP=363;ExcessHet=0;FS=1.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-2.247;SOR=0.717	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1102	9	0	1	0
chr10	119172416	119172416	C	A	exonic	PRDX3	.	nonsynonymous SNV	PRDX3:NM_001302272:exon5:c.G517T:p.G173C,PRDX3:NM_006793:exon5:c.G517T:p.G173C	.	431	1078	13	0	0	13	0.00599355	.	.	.	2809662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.640	0.0344172456427	0.0070	0.00139776	0.0052	0.0016	0.0029	0	0.0017	0.0074	0.0055	0.0042	0.0052457	811	154602	rs11554923	0.0068	0.0068	0.0069	0.0068	0.0078	0.0067	0.0067	0.0077	0.0076	0.0011	0.0042	0.0047	2.519e-05	0.0017	0.0076	0.0078	0.0065	0.0045	0.0051	0.0051	0.0051	0.0050	0.0101	0.0048	0.0046	0.0088	0.0083	0.0012	0.0011	0.0101	0.0066	0	0.0010	0.0068	0.0073	0.0061	0.0039	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.95	0.99826	H	1.92	0.23082	T	-7.9	0.96191	D	0.838	0.83371	0.102	0.84209	D	0.279	0.65089	T	10	0.024121523	0.00653	T	0.034417	0.55661	D	0.640	0.86283	.	.	0.785827271255	0.78384	0.8953526697202191	0.89506	0.428384344672	0.43156	0.810923039913	0.83634	D	0.516345	0.83001	D	-0.0559381	0.43538	T	0.154834	0.80487	D	0.166894767751732	0.18366	T	0.975702	0.91457	D	0.948423	0.96106	0.87563336	0.93257	0.948423	0.96106	0.87563336	0.93258	-8.721	0.65883	D	.	.	0.489	0.64094	A	.	.	4.955172	0.81888	27.7	0.99714948005809856	0.81633	0.99567	0.97521	D	AEFDBI	0.947911	0.95899	D	1.09465179467534	0.98034	17.27989	0.968211406184773	0.97912	17.01693	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.847000	0.85186	4.018000	0.41224	0.530000	0.24713	1.000000	0.71638	0.994000	0.32194	0.992000	0.67800	0.0:1.0:0.0:0.0	19.113	0.93307	923	0.18507	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.001359	0.000000	0.100000	0.008621	0.006098	0.011364	0.05	1630.43	36	chr10	119172416	.	C	A	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.881;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=-2.059;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1105	9	0	1	0
chr10	119820851	119820851	T	C	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon2:c.T62C:p.I21T,INPP5F:NM_014937:exon16:c.T1892C:p.I631T	.	429	1092	1	0	0	1	0.000457666	.	.	.	3968655	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00770279112698	0.0004	.	0.0001	9.612e-05	0	0	0	0.0002	0	0	0.0001035	16	154602	rs143847485	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	9e-05	2.236e-05	0	0	1.872e-05	0	0.0003	0.0002	3.483e-05	0.0001	0.0001	0.0002	8.066e-05	0.0003	7.575e-05	6.28e-05	0.0002	0.0001	0	0	0	0	0	0	0	0.0003	0	0	0.338	0.16903	T	0.425	0.40747	T	0.001	0.07471	B	0.003	0.08700	B	0.068305	0.21681	N	0.516807	0.995924	0.42925	D	1.61	0.41143	L	1.12	0.48460	T	0.3	0.30762	N	0.435	0.47395	-1.0657	0.10386	T	0.077	0.30951	T	10	0.07210681	0.10720	T	0.007703	0.20431	T	0.032	0.07718	.	.	0.267299060538	0.26338	0.5117399583613493	0.51095	0.163648037258	0.18455	0.635355770588	0.57904	T	0.091782	0.38867	T	-0.404758	0.02154	T	-0.513206	0.20986	T	0.0433019213378429	0.04293	T	0.843016	0.56114	T	0.092300355	0.21651	0.099205665	0.23679	0.092300355	0.21650	0.099205665	0.23678	-3.402	0.40347	T	.	.	0.061	0.14477	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.231642	0.28490	17.81	0.94899610257887979	0.25751	0.88487	0.48437	D	AEFGBI	0.091122	0.18459	N	-0.509687326367129	0.21766	1.157509	-0.366447126261547	0.26005	1.433649	0.999895321631482	0.45129	0.706298	0.61202	0	0.708844	0.79440	0	0.662677	0.59975	0	0.613276	0.41899	0	.	.	5.68	0.278	0.14925	2.103000	0.41430	0.157000	0.15360	0.605000	0.46263	0.994000	0.38300	0.392000	0.24668	1.000000	0.97212	0.0:0.3481:0.0:0.6519	8.959	0.34995	545	0.72614	hSac2 domain;.;hSac2 domain;.;.;.;.;.;.;hSac2 domain;hSac2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1240.43	35	chr10	119820851	.	T	C	1240.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=439;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-1.549;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	9	0	1	0
chr10	119827427	119827427	G	T	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon6:c.G1216T:p.V406F,INPP5F:NM_014937:exon20:c.G3046T:p.V1016F	.	431	1086	5	0	0	5	0.00229674	.	.	.	2259134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.314	0.0271962218487	0.0005	0.000399361	0.0004	0.0006	0.0007	0	0	0.0004	0	0.0001	0.0002846	44	154602	rs150134182	0.0003	0.0003	0.0003	0.0003	0.0042	0.0003	0.0002	0.0029	0.0024	0.0004	0.0008	0.0005	0	1.872e-05	0.0042	0.0002	0.0008	0.0002	0.0004	0.0004	0.0005	0.0003	0.0008	0.0003	0.0003	0.0005	0.0004	0.0004	0	0.0008	0.0006	0.0002	0	0.0068	0.0004	0.0009	0.0004	0.003	0.72154	D	0.055	0.70582	T	0.974	0.57829	D	0.459	0.46380	P	0.001425	0.39044	N	0.219164	1	0.81001	D	1.1	0.28011	L	0.61	0.59983	T	-1.22	0.35194	N	0.567	0.73826	-0.3869	0.72439	T	0.356	0.71873	T	10	0.12022507	0.22767	T	0.027196	0.50036	D	0.314	0.63588	.	.	0.509053020717	0.50544	0.6115224916935186	0.61084	0.547728205502	0.51742	0.547327637672	0.45481	T	0.288823	0.66161	T	0.0327735	0.56091	T	0.180386	0.82017	D	0.0478372051556	0.05114	T	0.920308	0.71149	D	0.2026471	0.42316	0.14761087	0.34924	0.2026471	0.42316	0.14761087	0.34924	-4.391	0.29435	T	.	.	0.155	0.57060	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.774654	0.54236	23.5	0.99118988392906415	0.52932	0.97512	0.75231	D	AEFDGBCI	0.908030	0.86280	D	0.539413667019715	0.69439	5.357148	0.481384880984911	0.66757	4.993861	0.999999999999993	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.92	5.92	0.95557	9.475000	0.96856	11.871000	0.98575	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	20.325	0.98698	557	0.71576	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.006793	0.008772	0.000000	0.008621	0.003049	0.003788	0.05	1909.43	241	chr10	119827427	.	G	T	1909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.447;DP=749;ExcessHet=0;FS=1.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.47;SOR=0.818	GT:AD:DP:GQ:PL	0/1:104,83:187:99:1921,0,2639	9	0	1	0
chr10	119827431	119827431	C	T	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon6:c.C1220T:p.S407F,INPP5F:NM_014937:exon20:c.C3050T:p.S1017F	.	431	1090	0	1	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0175248423373	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs777970109	3.42e-06	3.42e-06	2.722e-06	4.125e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	3.311e-05	0	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.011	0.57480	D	0.049	0.50809	D	0.412	0.35138	B	0.133	0.33073	B	0.790419	0.09401	N	0.916757	1	0.08975	N	0.695	0.17993	N	1.1	0.47130	T	-1.56	0.43717	N	0.089	0.13198	-0.9566	0.39807	T	0.139	0.45772	T	10	0.09566903	0.17103	T	0.017525	0.39265	T	0.071	0.20720	0.236	0.16608	0.273938319068	0.27005	0.13915577995241998	0.13838	0.213140638837	0.23823	0.341394454241	0.16647	T	0.227659	0.59300	T	-0.221359	0.17809	T	-0.555744	0.16779	T	0.159881293773651	0.17863	T	0.865613	0.56501	D	0.07168597	0.15890	0.08938914	0.20900	0.07168597	0.15889	0.08938914	0.20899	-6.322	0.50333	T	.	.	0.088	0.28145	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.667125	0.21255	15.12	0.96249827783723874	0.29179	0.17940	0.20052	N	AEFDGBCI	0.187043	0.31434	N	-0.589859603097409	0.19252	1.006102	-0.635489808655507	0.18584	0.9933834	0.999497030135752	0.40007	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.81	3.94	0.44807	2.088000	0.41287	1.444000	0.26551	-0.188000	0.09543	0.030000	0.20431	0.423000	0.24817	0.076000	0.17014	0.1337:0.6359:0.2304:0.0	11.988	0.52450	557	0.71576	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2350.43	260	chr10	119827431	.	C	T	2350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.88;DP=626;ExcessHet=0;FS=3.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.162;SOR=0.951	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	42.71	153	chr10	119898750	.	C	G	42.71	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-6.062;DP=1386;ExcessHet=0;FS=256.542;InbreedingCoeff=-0.1958;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=1.65;SOR=8.155	GT:AD:DP:GQ:PL	0/0:109,0:109:35:0,35,2549	5	0	1	4
chr10	122216727	122216727	C	T	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon5:c.C1679T:p.T560M,TACC2:NM_206860:exon5:c.C1679T:p.T560M,TACC2:NM_001291878:exon6:c.C1715T:p.T572M,TACC2:NM_001291879:exon7:c.C557T:p.T186M,TACC2:NM_206861:exon8:c.C1883T:p.T628M,TACC2:NM_001291876:exon10:c.C7310T:p.T2437M,TACC2:NM_001291877:exon10:c.C7457T:p.T2486M,TACC2:NM_206862:exon11:c.C7445T:p.T2482M	.	429	1071	21	1	0	23	0.0106236	.	.	.	2809684	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	.	0.0055	0.00259585	0.0066	0.0012	0.0037	0	0.0203	0.0084	0.0110	0.0027	0.0062742	970	154602	rs34944231	0.0063	0.0063	0.0064	0.0063	0.0172	0.0062	0.0062	0.0144	0.0134	0.0013	0.0049	0.0115	2.519e-05	0.0190	0.0172	0.0062	0.0071	0.0032	0.0056	0.0056	0.0052	0.0060	0.0085	0.0053	0.0051	0.0073	0.0069	0.0014	0	0.0085	0.0112	0	0.0168	0.0068	0.0060	0.0095	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.002731	0.36034	N	0.000000	0.707636	0.39464	D	2.045	0.56016	M	3.82	0.20959	T	-3.12	0.82700	D	0.385	0.52119	-1.0425	0.16562	T	0.087	0.33606	T	10	0.008578092	0.00194	T	.	.	.	0.190	0.46781	.	.	0.74928862865	0.74702	0.3135585914688497	0.31268	0.506261591587	0.48838	0.395141631365	0.24391	T	0.254498	0.62516	T	-0.395171	0.02490	T	-0.335847	0.40814	T	0.0202739606712517	0.00727	T	0.980602	0.93511	D	0.17032468	0.37601	0.20229791	0.44251	0.17032468	0.37601	0.20229791	0.44250	-3.892	0.24639	T	.	.	0.108	0.23918	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.806375	0.78151	26.8	0.99906649515995816	0.97726	0.96615	0.70031	D	AEFDBI	0.557772	0.56726	D	0.670355751745337	0.77691	6.723674	0.694043590370746	0.81925	7.642314	0.999999723206218	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.395000	0.66037	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	19.719	0.96128	957	0.09725	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.010101	0.009511	0.017544	0.000000	0.017241	0.009146	0.011364	0.15	5343.45	151	chr10	122216727	.	C	T	5343.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.441;DP=695;ExcessHet=0.7463;FS=1.107;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.3;SOR=0.62	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1221	7	0	3	0
chr10	122227937	122227937	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_006997:exon8:c.G2059A:p.V687M,TACC2:NM_206860:exon8:c.G2059A:p.V687M,TACC2:NM_001291878:exon9:c.G2095A:p.V699M,TACC2:NM_001291879:exon10:c.G937A:p.V313M,TACC2:NM_206861:exon11:c.G2263A:p.V755M,TACC2:NM_001291876:exon13:c.G7690A:p.V2564M,TACC2:NM_001291877:exon13:c.G7837A:p.V2613M,TACC2:NM_206862:exon14:c.G7825A:p.V2609M	.	429	1090	3	0	0	3	0.00137426	.	.	.	2672914	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.0118040479916	.	.	4.121e-05	0	0	0	0	7.499e-05	0	0	3.23e-05	5	154602	rs200541273	4.994e-05	4.994e-05	4.084e-05	5.913e-05	2.987e-05	4.059e-05	3.734e-05	9.31e-06	7.61e-06	2.987e-05	0	0.0017	0	0	0	1.529e-05	0.0002	1.159e-05	2.627e-05	2.626e-05	2.568e-05	2.689e-05	.	8.14e-06	5.14e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0	0.002	0.72154	D	0.049	0.58089	D	0.429	0.43409	B	0.27	0.41633	B	0.337495	0.14016	N	0.533387	0.990594	0.27459	N	1.39	0.34934	L	3.95	0.18570	T	-1.13	0.30762	N	0.302	0.34336	-1.0707	0.09260	T	0.032	0.13592	T	10	0.009913832	0.00222	T	0.011804	0.29782	T	0.048	0.13305	0.132	0.03662	0.319686207203	0.31575	0.13741907348314877	0.13665	0.240167342679	0.26565	0.333066642284	0.15397	T	0.035837	0.23874	T	-0.284258	0.10222	T	-0.538436	0.18450	T	0.0725953248392799	0.09010	T	0.972203	0.89922	D	0.061629355	0.12783	0.08979402	0.21019	0.061629355	0.12782	0.08979402	0.21018	-5.123	0.39165	T	.	.	0.096	0.17953	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.086137	0.26537	17.15	0.98423824042551211	0.41320	0.21517	0.21429	N	AEFGBI	0.109281	0.21710	N	-0.607417867436289	0.18720	0.9741876	-0.555180450611674	0.20668	1.114601	0.657845636368872	0.22238	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	3.37	0.37692	-0.340000	0.07868	.	.	-0.120000	0.14102	0.192000	0.24212	0.998000	0.33993	0.964000	0.52637	0.0:0.2515:0.4596:0.2889	8.779	0.33938	951	0.11083	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1779.43	33	chr10	122227937	.	G	A	1779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.299;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=-1.491;SOR=0.714	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1315	9	0	1	0
chr10	122276833	122276833	C	T	exonic	BTBD16	.	nonsynonymous SNV	BTBD16:NM_001318189:exon3:c.C64T:p.R22W,BTBD16:NM_144587:exon3:c.C61T:p.R21W	.	.	.	.	.	.	.	.	.	.	.	2356088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0556492213768	0.0008	0.000199681	0.0005	0.0003	0.0003	0	0	0.0008	0	0.0002	0.0004981	77	154602	rs147619675	0.0008	0.0008	0.0009	0.0008	0.0011	0.0008	0.0008	0.0010	0.0010	5.974e-05	0.0004	0	0	3.744e-05	0	0.0011	0.0006	0.0002	0.0005	0.0005	0.0007	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	0.0002	0	0.0007	0	0	0	0.0034	0.0009	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000083	0.51296	D	0.000000	0.544157	0.31388	N	2.545	0.74286	M	1.24	0.36691	T	-5.1	0.83027	D	0.698	0.70263	-0.5257	0.67703	T	0.204	0.56224	T	10	0.38565466	0.54520	T	0.055649	0.66314	D	0.206	0.49396	.	.	0.70969676289	0.70716	0.5020837778508499	0.50130	0.641525643221	0.57744	0.560316681862	0.47313	T	0.116004	0.43501	T	-0.286135	0.10027	T	-0.260494	0.48774	T	0.205646225380879	0.20723	T	0.889511	0.62170	D	0.7195486	0.79136	0.6930587	0.81933	0.7195486	0.79138	0.6930587	0.81934	-5.582	0.42628	T	.	.	0.294	0.52500	B	.	.	3.841036	0.55578	23.6	0.99924903133917553	0.98980	0.56438	0.30117	D	AEFGBI	0.325939	0.42737	N	0.488517024336442	0.66418	4.94757	0.416820880225287	0.62610	4.479612	0.99999700702164	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	3.98	0.45383	0.072000	0.14482	.	.	-0.181000	0.10308	0.993000	0.37899	0.050000	0.21810	0.970000	0.54328	0.1916:0.8084:0.0:0.0	10.636	0.44758	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2511.43	62	chr10	122276833	.	C	T	2511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.822;DP=697;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.849;SOR=0.811	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,120,1800	9	0	1	0
chr10	122415920	122415920	G	A	exonic	PLEKHA1	.	nonsynonymous SNV	PLEKHA1:NM_001377252:exon5:c.G386A:p.S129N,PLEKHA1:NM_001377253:exon6:c.G386A:p.S129N,PLEKHA1:NM_001377255:exon6:c.G386A:p.S129N,PLEKHA1:NM_001377257:exon6:c.G386A:p.S129N,PLEKHA1:NM_001001974:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377237:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377241:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377245:exon7:c.G530A:p.S177N,PLEKHA1:NM_001377250:exon7:c.G521A:p.S174N,PLEKHA1:NM_001377254:exon7:c.G386A:p.S129N,PLEKHA1:NM_001377258:exon7:c.G530A:p.S177N,PLEKHA1:NM_001195608:exon8:c.G530A:p.S177N,PLEKHA1:NM_001330178:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377230:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377235:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377238:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377240:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377244:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377246:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377247:exon8:c.G497A:p.S166N,PLEKHA1:NM_001377248:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377249:exon8:c.G470A:p.S157N,PLEKHA1:NM_001377251:exon8:c.G497A:p.S166N,PLEKHA1:NM_001377256:exon8:c.G404A:p.S135N,PLEKHA1:NM_021622:exon8:c.G530A:p.S177N,PLEKHA1:NM_001377232:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377234:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377242:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377243:exon9:c.G530A:p.S177N,PLEKHA1:NM_001377231:exon10:c.G530A:p.S177N	.	436	1063	23	0	0	23	0.0107027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00454835999098	0.0012	0.000599042	0.0017	0.0002	0.0006	0	0.0002	0.0019	0	0.0044	0.0015912	246	154602	rs142473166	0.0015	0.0015	0.0013	0.0017	0.0132	0.0015	0.0014	0.0108	0.0099	0.0004	0.0015	0.0064	2.522e-05	0.0001	0.0132	0.0013	0.0021	0.0040	0.0014	0.0014	0.0014	0.0013	0.0029	0.0012	0.0011	0.0019	0.0016	0.0002	0	0.0025	0.0066	0	0.0003	0.0136	0.0016	0.0024	0.0029	0.095	0.31682	T	0.176	0.29843	T	0.103	0.25884	B	0.038	0.23361	B	0.000000	0.84330	D	0.035879	0.999923	0.51308	D	1.965	0.53209	M	2.55	0.13795	T	-1.08	0.30140	N	0.263	0.39659	-1.1953	0.00188	T	0.062	0.25994	T	10	0.0063737035	0.00144	T	0.004548	0.11220	T	0.117	0.32689	.	.	0.270001397563	0.26616	0.36486402632052306	0.36400	0.47080475657	0.46347	0.578641235828	0.49895	T	0.28229	0.65502	T	-0.600382	0.00145	T	-0.63634	0.09938	T	0.0294323261235955	0.01903	T	0.822018	0.48145	T	0.25771642	0.48817	0.2700995	0.52898	0.25771642	0.48817	0.2700995	0.52897	-11.14	0.80420	D	.	.	0.111	0.37350	B	.;.;.;.;.	.;.;.;.;.	4.308203	0.65834	24.9	0.99474569122223877	0.66525	0.97002	0.72125	D	AEFBI	0.594723	0.58955	D	0.398909946604098	0.61365	4.336386	0.487086349996775	0.67133	5.043443	0.999999915797226	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	4.502000	0.60122	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.736	0.96203	939	0.14249	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.010870	0.017544	0.100000	0.000000	0.000000	0.007576	0.1	2956.14	119	chr10	122415920	.	G	A	2956.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.679;DP=486;ExcessHet=0.2348;FS=0.516;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=1.23;SOR=0.765	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	8	0	2	0
chr10	122461685	122461685	-	T	exonic	HTRA1	.	frameshift insertion	HTRA1:NM_002775:exon1:c.33_34insT:p.L12Sfs*157	CARASIL syndrome, Autosomal recessive;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Autosomal dominant	8	217	1	0	0	1	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0189	0	0	0	0	3.84e-05	1	26028	rs541533723	0.0009	0.0011	0.0009	0.0009	0.0314	0.0009	0.0008	0.0291	0.0282	0	0.0001	0	0.0314	0.0093	0.0003	0.0002	0.0026	0.0001	0.0018	0.0019	0.0013	0.0024	0.0277	0.0017	0.0016	0.0240	0.0226	4.866e-05	0	0.0003	0	0.0277	0.0104	0	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	213.59	20	chr10	122461685	.	G	GT	213.59	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=117;ExcessHet=0;FS=0;InbreedingCoeff=-0.0678;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.984;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,194:.	9	0	1	0
chr10	122461686	122461686	-	CT	exonic	HTRA1	.	frameshift insertion	HTRA1:NM_002775:exon1:c.34_35insCT:p.L12Pfs*204	CARASIL syndrome, Autosomal recessive;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Autosomal dominant	8	217	1	0	0	1	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0189	0	0	0	0	3.84e-05	1	26028	rs552775933	0.0009	0.0011	0.0009	0.0009	0.0314	0.0009	0.0008	0.0292	0.0283	0	0.0001	0	0.0314	0.0093	0.0003	0.0002	0.0026	0.0001	0.0018	0.0019	0.0013	0.0024	0.0277	0.0017	0.0016	0.0240	0.0225	4.859e-05	0	0.0003	0	0.0277	0.0103	0	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	213.59	20	chr10	122461686	.	C	CCT	213.59	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=115;ExcessHet=0;FS=0;InbreedingCoeff=-0.068;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.923;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,194:.	9	0	1	0
chr10	122489621	122489621	C	T	exonic	HTRA1	.	nonsynonymous SNV	HTRA1:NM_002775:exon3:c.C772T:p.H258Y	CARASIL syndrome, Autosomal recessive;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0317483576247	.	.	1.668e-05	0	0	0	0	1.514e-05	0.0011	0	1.29e-05	2	154602	rs760165455	8.897e-06	9.577e-06	6.809e-06	1.1e-05	0.0007	4.96e-06	3.83e-06	0.0003	0.0002	0	0	3.827e-05	0	0	0.0007	1.799e-06	8.288e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002965	0.35639	N	0.292371	0.965666	0.25928	N	0.625	0.15840	N	-2.33	0.87910	D	-1.53	0.37178	N	0.163	0.17140	-0.8479	0.52113	T	0.250	0.61923	T	10	0.15284723	0.28863	T	0.031748	0.53753	D	0.235	0.53788	0.521	0.62368	0.748565761474	0.74629	0.33087240357129194	0.33000	0.591015907945	0.54545	0.518860340118	0.41466	T	0.36919	0.73395	T	-0.194604	0.21585	T	-0.416682	0.31457	T	0.0660742223262787	0.08089	T	0.783522	0.44873	T	0.18958521	0.40506	0.122259334	0.29492	0.18958521	0.40506	0.122259334	0.29491	-5.818	0.44731	T	0.2210804370749612	0.29811	0.089	0.11989	B	.;.	.;.	2.874248	0.38013	20.6	0.9473657017642656	0.25423	0.39746	0.26282	N	AEFBI	0.423497	0.48906	N	-0.74015411997915	0.14903	0.7463474	-0.557244531783643	0.20614	1.111408	0.995342935123356	0.34076	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.13	2.89	0.32713	0.146000	0.16000	.	.	0.599000	0.40250	0.424000	0.26361	1.000000	0.68203	0.969000	0.54022	0.1457:0.4813:0.1423:0.2307	2.139	0.03540	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	257.43	37	chr10	122489621	.	C	T	257.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=346;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.58;ReadPosRankSum=-0.044;SOR=1.371	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr10	122618250	122618250	G	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon25:c.G2854A:p.G952R,DMBT1:NM_017579:exon37:c.G4708A:p.G1570R,DMBT1:NM_001320644:exon38:c.G4738A:p.G1580R,DMBT1:NM_007329:exon38:c.G4738A:p.G1580R,DMBT1:NM_001377530:exon41:c.G5125A:p.G1709R	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595	0.0742374755268	0.0003	0.000399361	0.0009	0.0003	0.0002	0	0	0.0013	0	0.0011	0.0009185	142	154602	rs140113910	0.0016	0.0016	0.0016	0.0016	0.0019	0.0015	0.0015	0.0018	0.0018	0.0003	0.0002	0	0	3.745e-05	0.0002	0.0019	0.0009	0.0014	0.0010	0.0010	0.0011	0.0008	0.0017	0.0008	0.0008	0.0014	0.0013	0.0004	0	0.0010	0	0	0	0	0.0017	0.0005	0.0006	0.0	0.91255	D	0.04	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000004	0.00162	U	421.163000	0.999961	0.58761	D	4.285	0.98199	H	-0.63	0.72011	T	-6.95	0.94729	D	0.608	0.78451	-0.0614	0.80963	T	0.759	0.91788	D	10	0.49929845	0.61453	T	0.074237	0.71992	D	0.595	0.83911	0.859	0.95718	0.900273714063	0.89927	0.5654150715103655	0.56468	0.682008575651	0.60083	0.869971394539	0.92563	D	0.300608	0.67309	T	-0.0873842	0.38507	T	0.0955351	0.76612	D	0.248519388097806	0.22807	T	0.913909	0.70532	D	0.7084725	0.78523	0.73614126	0.84405	0.7084725	0.78525	0.73614126	0.84406	-10.857	0.79593	D	.	.	0.679	0.76714	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.402275	0.47155	22.4	0.99922545568531629	0.98852	0.98378	0.82168	D	AEFBI	0.935941	0.93154	D	0.771976124219107	0.84325	8.256797	0.580334968480344	0.73531	5.98569	0.999999999128934	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	7.544000	0.81063	.	.	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	16.823	0.85788	582	0.69555	.;.;.;.;SRCR domain|SRCR domain|SRCR-like domain;.;SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3302.43	234	chr10	122618250	.	G	A	3302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=555;ExcessHet=0;FS=5.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.02;MQRankSum=0.529;QD=14.11;ReadPosRankSum=0.847;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1089	9	0	1	0
chr10	122631872	122631872	C	T	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon34:c.C4093T:p.P1365S,DMBT1:NM_017579:exon46:c.C5947T:p.P1983S,DMBT1:NM_001320644:exon47:c.C5977T:p.P1993S,DMBT1:NM_007329:exon47:c.C5977T:p.P1993S,DMBT1:NM_001377530:exon50:c.C6364T:p.P2122S	.	411	1106	5	0	0	5	0.0022553	.	.	.	737389	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00133183655001	0.0008	0.000998403	0.0012	0.0002	0.0007	0	0	0.0019	0.0022	0.0004	0.0011061	171	154602	rs189862352	0.0008	0.0008	0.0007	0.0008	0.0177	0.0007	0.0007	0.0149	0.0139	0.0003	0.0012	0.0083	0	9.363e-05	0.0177	0.0005	0.0016	0.0006	0.0006	0.0006	0.0006	0.0007	0.0009	0.0005	0.0005	0.0005	0.0004	0.0002	0	0.0009	0.0081	0	0	0.0068	0.0006	0.0009	0.0008	0.336	0.28520	T	0.253	0.23501	T	0.097	0.25541	B	0.099	0.30579	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	1.89	0.24656	T	-1.67	0.39887	N	0.204	0.22614	-0.9772	0.35638	T	0.032	0.13592	T	9	0.0036647618	0.00067	T	0.001332	0.01885	T	0.006	0.00375	.	.	0.143124449307	0.13826	0.3593714767669015	0.35851	0.151937623519	0.17149	0.22824755311	0.01841	T	0.029273	0.21013	T	-0.658882	0.00064	T	-0.775562	0.02590	T	0.00140085972303628	0.00014	T	0.315568	0.06252	T	0.020081563	0.00554	0.040454477	0.04376	0.020081563	0.00554	0.040454477	0.04375	-3.937	0.22858	T	.	.	0.073	0.06710	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.731160	0.01250	0.064	0.32069138688701071	0.01839	0.00269	0.01464	N	AEFBI	0.041563	0.06335	N	-1.72593763727459	0.00753	0.03254914	-1.83717699914581	0.00647	0.02877756	0.999717407815277	0.42101	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.07	-5.86	0.02114	-1.375000	0.02670	.	.	-1.105000	0.01501	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5678:0.1788:0.0:0.2533	4.085	0.09417	571	0.70397	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.025253	0.009511	0.038012	0.000000	0.034483	0.006098	0.000000	0.1	2350.12	34	chr10	122631872	.	C	T	2350.12	.	AC=2;AF=0.1;AN=20;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.01;SOR=0.718	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	1	0	0
chr10	122636009	122636009	C	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon37:c.C4296A:p.N1432K,DMBT1:NM_017579:exon49:c.C6150A:p.N2050K,DMBT1:NM_001320644:exon50:c.C6177A:p.N2059K,DMBT1:NM_007329:exon50:c.C6180A:p.N2060K,DMBT1:NM_001377530:exon53:c.C6567A:p.N2189K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00679081677137	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247977519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.594	0.05737	T	0.095	0.39492	T	0.693	0.41684	P	0.295	0.40843	B	0.091111	0.02455	N	2.122320	1	0.08975	N	0.16	0.08945	N	1.65	0.27650	T	-1.69	0.43524	N	0.167	0.20395	-1.0607	0.11582	T	0.054	0.22808	T	10	0.09718162	0.17484	T	0.006791	0.17953	T	0.062	0.17934	0.607	0.73945	0.236890367714	0.23314	0.12653455801162566	0.12579	0.167866755791	0.18923	0.395314455032	0.24416	T	0.025614	0.19119	T	-0.266613	0.12137	T	-0.620747	0.11126	T	0.171929930076787	0.18710	T	0.040396	0.00287	T	0.076402195	0.17277	0.062408462	0.12205	0.076402195	0.17277	0.062408462	0.12205	-8.673	0.65570	D	.	.	0.328	0.61983	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.130580	0.15173	11.64	0.85673890897499161	0.16041	0.05332	0.11185	N	AEFBI	0.109754	0.21789	N	-1.13033558694043	0.06109	0.2803673	-1.15379082966431	0.06700	0.3233875	0.00536977806903124	0.10916	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	-1.27	0.08863	-0.474000	0.06686	.	.	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.674000	0.33367	0.3656:0.3417:0.1357:0.157	1.725	0.02745	570	0.70478	.;.;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	825.43	33	chr10	122636009	.	C	A	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=379;ExcessHet=0;FS=0.98;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=-0.764;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	9	0	1	0
chr10	122637181	122637181	C	A	exonic	DMBT1	.	nonsynonymous SNV	DMBT1:NM_004406:exon38:c.C4540A:p.Q1514K,DMBT1:NM_017579:exon50:c.C6394A:p.Q2132K,DMBT1:NM_001320644:exon51:c.C6421A:p.Q2141K,DMBT1:NM_007329:exon51:c.C6424A:p.Q2142K,DMBT1:NM_001377530:exon54:c.C6811A:p.Q2271K	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	.	.	0.00499201	0.0032	0.0001	0.0004	0.0001	0	1.499e-05	0.0033	0.0231	0.0028072	434	154602	rs543589037	0.0014	0.0014	0.0008	0.0020	0.0223	0.0013	0.0013	0.0214	0.0211	8.961e-05	0	0	0	0	0.0005	1.349e-05	0.0012	0.0223	0.0008	0.0008	0.0004	0.0012	0.0249	0.0007	0.0006	0.0212	0.0199	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0249	0.054	0.47745	T	0.183	0.29740	T	0.775	0.45403	P	0.225	0.42203	B	0.055431	0.22643	U	0.216309	0.844098	0.28589	N	1.67	0.42885	L	-1.57	0.81900	D	-1.83	0.46673	N	0.287	0.35301	-0.1895	0.77940	T	0.439	0.77796	T	10	0.005826175	0.00130	T	.	.	.	0.282	0.59981	.	.	0.847530603234	0.84606	0.21228382884223634	0.21144	0.334990745553	0.35507	0.282208532095	0.07802	T	0.151881	0.49203	T	-0.397485	0.02405	T	-0.32748	0.41748	T	0.0307138533372576	0.02100	T	0.706229	0.31676	T	0.17294754	0.38015	0.17847337	0.40518	0.17294754	0.38014	0.17847337	0.40517	-9.379	0.70104	D	.	.	0.166	0.43640	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.595446	0.33679	19.41	0.9678928379493168	0.31105	0.22640	0.21814	N	AEFDBHCI	0.093722	0.18959	N	-0.0455109477000612	0.39803	2.353221	-0.0275343976084883	0.38477	2.267411	0.978743176698853	0.29954	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	1.889000	0.39352	.	.	0.599000	0.40250	0.085000	0.22462	0.019000	0.20708	0.588000	0.31090	0.1579:0.842:0.0:0.0	13.385	0.60237	570	0.70478	.;.;.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.018939	0.05	929.43	38	chr10	122637181	.	C	A	929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.23;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.316;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	9	0	1	0
chr10	122833698	122833698	C	T	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon8:c.G1625A:p.R542K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00545657802026	0.0002	0.000199681	0.0006	0	8.639e-05	0.0016	0.0027	0.0005	0	0.0003	0.0004592	71	154602	rs144406058	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0003	0.0012	0.0011	2.988e-05	0	0.0005	0.0015	0.0022	0.0002	0.0002	0.0005	0.0004	0.0004	0.0004	0.0003	0.0006	0.0017	0.0003	0.0003	0.0009	0.0007	0	0	0	0.0012	0.0017	0.0024	0	0.0004	0.0005	0.0006	0.102	0.30235	T	0.26	0.23029	T	0.068	0.23728	B	0.014	0.16862	B	0.039019	0.24219	N	0.463064	1	0.08975	N	2.015	0.55033	M	1.1	0.39050	T	-0.32	0.12283	N	0.126	0.11912	-1.0202	0.23649	T	0.055	0.23262	T	10	0.004857838	0.00104	T	0.005457	0.14045	T	0.024	0.04979	.	.	0.36355261348	0.35965	0.1987745128889033	0.19794	0.0645436709737	0.07206	.	.	.	0.059891	0.31238	T	-0.53029	0.00382	T	-0.547732	0.17545	T	0.0184819307307244	0.00564	T	0.537746	0.18100	T	0.093723334	0.22019	0.07751926	0.17277	0.093723334	0.22019	0.07751926	0.17277	-3.075	0.11011	T	.	.	0.08	0.07793	B	.;.	.;.	1.518560	0.19502	14.29	0.95991941580403084	0.28388	0.06414	0.12418	N	AEFBI	0.068384	0.13489	N	-0.748470824154182	0.14675	0.733019	-0.668358340746405	0.17754	0.9454264	0.0048870964803403	0.10750	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	5.1	2.05	0.25860	-0.559000	0.06062	.	.	0.599000	0.40250	0.000000	0.06391	0.768000	0.26677	0.954000	0.50415	0.0:0.5793:0.1374:0.2834	6.127	0.19405	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1150.43	34	chr10	122833698	.	C	T	1150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.042;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	9	0	1	0
chr10	122841248	122841248	T	C	exonic	CUZD1	.	nonsynonymous SNV	CUZD1:NM_022034:exon2:c.A163G:p.S55G	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0005	0.00259585	0.0020	0.0002	0.0003	0.0170	0.0054	0.0007	0.0011	0.0008	0.0018046	279	154602	rs141881176	0.0009	0.0009	0.0009	0.0009	0.0137	0.0008	0.0008	0.0127	0.0123	5.975e-05	0.0002	0.0005	0.0137	0.0046	0.0002	0.0002	0.0020	0.0014	0.0013	0.0013	0.0009	0.0017	0.0156	0.0011	0.0011	0.0129	0.0119	0.0001	0	0.0003	0.0012	0.0156	0.0045	0	0.0005	0.0019	0.0027	0.039	0.42487	D	0.051	0.47828	T	0.019	0.17989	B	0.024	0.20255	B	0.088612	0.02431	N	1.962370	1	0.08975	N	0.935	0.23595	L	1.35	0.34648	T	-0.2	0.10136	N	0.127	0.12055	-0.9766	0.35772	T	0.042	0.18076	T	10	0.003978342	0.00077	T	.	.	.	0.034	0.08419	.	.	0.371344866733	0.36741	0.21859629201676883	0.21775	0.0788483161384	0.08873	.	.	.	0.049768	0.28402	T	-0.616603	0.00115	T	-0.644204	0.09365	T	0.0116667562601844	0.00178	T	0.471453	0.13989	T	0.05675521	0.11207	0.07873136	0.17660	0.05675521	0.11207	0.07873136	0.17659	-2.626	0.06703	T	.	.	0.09	0.12607	B	.;.	.;.	0.792409	0.11628	8.215	0.9749633516365126	0.34272	0.02118	0.06262	N	AEFGBI	0.065849	0.12864	N	-1.07630793989911	0.07082	0.3279443	-1.08300120001307	0.08035	0.393328	0.988875390907366	0.31655	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.57	-4.03	0.03752	-0.663000	0.05398	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.0:0.5035:0.0:0.4965	13.547	0.61169	925	0.17918	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1207.43	33	chr10	122841248	.	T	C	1207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.631;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.421;SOR=0.7	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	483.18	158	chr10	122983003	.	G	C	483.18	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.281;DP=1155;ExcessHet=1.5895;FS=162.564;InbreedingCoeff=-0.2647;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.937;SOR=10.312	GT:AD:DP:GQ:PL	0/0:58,14:75:61:0,61,907	6	0	4	0
chr10	124021237	124021239	GGG	-	exonic	CHST15	.	nonframeshift deletion	CHST15:NM_001270765:exon6:c.1364_1366del:p.P455del,CHST15:NM_014863:exon6:c.1364_1366del:p.P455del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0133	0.0104	0.0092	0.0019	0.0091	0.0170	0.0140	0.0133	3.84e-05	1	26028	rs761349367	0.0018	0.0036	0.0015	0.0020	0.0026	0.0017	0.0017	0.0022	0.0020	0.0018	0.0026	0.0039	0.0001	0.0031	0.0021	0.0016	0.0015	0.0024	8.706e-05	9.761e-05	8.234e-05	9.235e-05	0.0002	4.235e-05	3.096e-05	4.429e-05	2.914e-05	4.115e-05	0	0.0002	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	27267.9	65	chr10	124021236	.	CGGG	C	27267.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.519;DP=1175;ExcessHet=0;FS=20.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=33.66;ReadPosRankSum=0.563;SOR=0.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:3,0:48:99:.:.:1126,1101,1177:.	9	0	1	0
chr10	124021246	124021246	-	GGC	exonic	CHST15	.	nonframeshift insertion	CHST15:NM_001270765:exon6:c.1356_1357insGCC:p.T452_P453insA,CHST15:NM_014863:exon6:c.1356_1357insGCC:p.T452_P453insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0001	0.0007	0.0066	0.0003	0.0002	0	0.0018	0.0004226	11	26028	rs752093499	0.0012	0.0019	0.0011	0.0013	0.0250	0.0011	0.0011	0.0237	0.0231	0.0003	0.0034	0.0006	0.0250	0.0011	0.0018	0.0001	0.0015	0.0036	0.0002	0.0003	0.0002	0.0003	0.0045	0.0002	0.0001	0.0030	0.0025	2.437e-05	0	0.0002	0	0.0045	0.0003	0	0	0	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	98.39	112	chr10	124021246	.	G	GGGC	98.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.28;ReadPosRankSum=-0.668;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:85,0:85:53:.:.:0,53,2084:.	9	0	1	0
chr10	124447637	124447637	C	G	exonic	NKX1-2	.	nonsynonymous SNV	NKX1-2:NM_001146340:exon2:c.G725C:p.G242A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.954073300024	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171767255	1.751e-06	1.368e-06	3.379e-06	0	2.099e-06	2.9e-07	1.1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.099e-06	0	0	6.641e-06	6.576e-06	1.298e-05	0	1.48e-05	0	0	.	.	0	0	0	0	0	0	0	1.48e-05	0	0	1.0	0.00964	T	0.544	0.09621	T	0.002	0.09854	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.975	0.24501	L	-2.57	0.89692	D	-0.15	0.09297	N	0.192	0.21056	-0.5516	0.66726	T	0.532	0.82660	D	8	0.15498364	0.29221	T	0.954073	0.99689	D	0.158	0.41098	0.261	0.20473	0.107399877778	0.10242	0.37686988958632445	0.37601	.	.	0.821171164513	0.85208	D	0.001649	0.01084	T	-0.0940195	0.37413	T	-0.372829	0.36558	T	0.0247691200023634	0.01243	T	0.330167	0.06908	T	0.049673896	0.08856	0.09618746	0.22844	0.049673896	0.08855	0.09618746	0.22843	-4.46	0.30362	T	.	.	0.069	0.02960	B	.	.	-0.410459	0.02174	0.213	0.45935992274935372	0.03642	0.01597	0.05185	N	AEFDBCI	0.044097	0.07052	N	-0.998422390473909	0.08638	0.4057579	-1.07830981853986	0.08128	0.3982951	0.987908273793667	0.31369	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.53	0.088	0.13765	-0.024000	0.12382	1.137000	0.24374	-1.646000	0.00832	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.0:0.5968:0.4032:0.0	14.246	0.65540	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	292.43	34	chr10	124447637	.	C	G	292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.083;DP=365;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=0.573;SOR=0.434	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1215	9	0	1	0
chr10	124447668	124447668	C	T	exonic	NKX1-2	.	nonsynonymous SNV	NKX1-2:NM_001146340:exon2:c.G694A:p.G232R	.	316	1205	1	0	0	1	0.000414766	.	.	.	2708741	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.452	0.928804009753	.	.	0.0001	0	0	0	0	0.0004	0	0	1.94e-05	3	154602	rs763815659	3.157e-05	2.942e-05	2.697e-05	3.636e-05	0.0012	2.363e-05	2.075e-05	0.0005	0.0003	0	0.0001	0.0005	0	0	0.0012	1.715e-05	6.05e-05	0	2.002e-05	1.976e-05	1.304e-05	2.733e-05	6.629e-05	5.32e-06	2.48e-06	.	.	0	0	6.629e-05	0.0006	0	0	0	0	0	0	0.008	0.58626	D	0.003	0.76473	D	0.957	0.54824	D	0.619	0.51356	P	.	.	.	.	0.999846	0.49770	D	0.695	0.17993	N	-2.75	0.90792	D	-2.76	0.58569	D	0.255	0.28849	0.494	0.90464	D	0.731	0.90787	D	8	0.27589786	0.45149	T	0.928804	0.99483	D	0.452	0.75211	0.367	0.37524	0.489036454283	0.48535	0.3977534980975178	0.39690	.	.	0.889746665955	0.95229	D	0.014559	0.12369	T	0.0434399	0.57493	T	-0.175378	0.56950	T	0.409368932247162	0.29294	T	0.50185	0.15733	T	0.15883717	0.35713	0.3196626	0.57926	0.15883717	0.35713	0.3196626	0.57925	-8.228	0.62613	D	.	.	0.367	0.57671	A	.	.	4.816703	0.78413	26.9	0.99393197159156277	0.62428	0.20430	0.21038	N	AEFDBCI	0.172940	0.29999	N	-0.130149678237329	0.36085	2.081029	-0.337909490913937	0.26886	1.488007	0.999995467898346	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.27	3.27	0.36580	3.085000	0.49849	1.474000	0.26774	0.480000	0.22105	0.737000	0.28995	0.023000	0.20922	0.139000	0.19909	0.0:0.8962:0.0:0.1038	10.582	0.44449	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1000.43	34	chr10	124447668	.	C	T	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.13;SOR=0.643	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1215	9	0	1	0
chr10	124696169	124696169	C	T	exonic	FAM53B	.	nonsynonymous SNV	FAM53B:NM_014661:exon3:c.G122A:p.C41Y	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.01365520187	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759031823	3.421e-06	3.42e-06	2.723e-06	4.125e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.999	0.77913	D	0.997	0.86255	D	0.000002	0.62929	D	0.104600	0.994497	0.42303	D	2.1	0.58353	M	0.89	0.45636	T	-2.33	0.58085	N	0.781	0.77789	-0.9177	0.45864	T	0.154	0.48378	T	10	0.70739955	0.72826	D	0.013655	0.33213	T	0.314	0.63588	0.532	0.64002	0.492816438443	0.48917	0.6426928150701828	0.64204	1.2086047739	0.80767	0.713018536568	0.69030	T	0.097532	0.40045	T	-0.0233938	0.48369	T	-0.174526	0.57027	T	0.884414672851562	0.53465	D	0.863014	0.63576	D	0.17977075	0.39065	0.29630217	0.55662	0.17977075	0.39065	0.29630217	0.55661	-4.506	0.30967	T	.	.	0.324	0.54825	B	.;.;.	.;.;.	4.737516	0.76369	26.5	0.93450132461680668	0.23231	0.78274	0.38593	D	AEFDGBCI	0.503513	0.53547	D	0.381241033567154	0.60406	4.22917	0.396352169249094	0.61339	4.332678	0.999999934740948	0.74766	0.615465	0.37627	0	0.516746	0.08562	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.16	4.25	0.49658	3.304000	0.51572	5.914000	0.51064	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9166:0.0:0.0834	11.392	0.49058	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1296.43	34	chr10	124696169	.	C	T	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.792;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.61;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,37:137:99:0|1:124989533_G_A:1197,0,4021:124989533	1	0	9	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:110,26:136:99:564,0,3689	1	0	9	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	891.5	129	chr10	124989579	.	G	C	891.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.11;DP=1298;ExcessHet=1.5895;FS=10.607;InbreedingCoeff=-0.4692;MLEAC=5;MLEAF=0.417;MQ=54.19;MQRankSum=-7.856;QD=1.62;ReadPosRankSum=-3.028;SOR=0.213	GT:AD:DP:GQ:PL	0/1:133,21:154:99:194,0,3532	2	0	4	4
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	54.37	42	chr10	124989594	.	G	A	54.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.948;DP=1072;ExcessHet=0.2348;FS=3.834;InbreedingCoeff=-0.1428;MLEAC=2;MLEAF=0.111;MQ=55.86;MQRankSum=-6.971;QD=0.17;ReadPosRankSum=-3.282;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:162,14:176:28:.:.:28,0,6722:.	7	0	2	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,21:167:99:0|1:124994489_T_G:442,0,6027:124994489	0	0	10	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,23:175:99:0|1:124994489_T_G:504,0,6310:124994489	0	0	10	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,23:174:99:0|1:124994489_T_G:507,0,6258:124994489	0	0	10	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,30:186:99:0|1:124994523_G_A:731,0,6375:124994523	0	0	10	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:152,33:185:99:364,0,4010	0	0	9	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:142,40:182:99:549,0,3827	1	0	9	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,42:185:99:0|1:124994577_C_A:1333,0,5701:124994577	0	0	10	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1004.29	183	chr10	124998077	.	C	G	1004.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.613;DP=1900;ExcessHet=2.8389;FS=16.906;InbreedingCoeff=-0.4814;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.775;QD=1.13;ReadPosRankSum=0.514;SOR=2.881	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,20:198:99:0|1:124998077_C_G:304,0,7405:124998077	2	0	5	3
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	971.29	186	chr10	124998080	.	G	C	971.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.672;DP=1891;ExcessHet=2.8389;FS=14.731;InbreedingCoeff=-0.4812;MLEAC=6;MLEAF=0.429;MQ=58.72;MQRankSum=-8.749;QD=1.08;ReadPosRankSum=0.762;SOR=2.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,20:206:99:0|1:124998077_C_G:280,0,7750:124998077	2	0	5	3
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	995.27	187	chr10	124998087	.	T	C	995.27	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.122;DP=1868;ExcessHet=2.8389;FS=17.019;InbreedingCoeff=-0.4808;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-8.749;QD=1.12;ReadPosRankSum=2.66;SOR=2.879	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,20:202:99:0|1:124998077_C_G:292,0,7582:124998077	2	0	5	3
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	949.91	192	chr10	124998090	.	G	A	949.91	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.555;DP=1882;ExcessHet=2.8389;FS=14.717;InbreedingCoeff=-0.4625;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-8.697;QD=1.05;ReadPosRankSum=2.21;SOR=2.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,20:206:99:0|1:124998077_C_G:280,0,7703:124998077	2	0	5	3
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1004.3	197	chr10	124998111	.	A	C	1004.3	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.527;DP=1890;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3924;MLEAC=5;MLEAF=0.357;MQ=58.74;MQRankSum=-8.929;QD=1.45;ReadPosRankSum=3.72;SOR=2.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,20:201:99:0|1:124998111_A_C:295,0,7540:124998111	3	0	4	3
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	991.72	201	chr10	124998113	.	A	G	991.72	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.497;DP=1880;ExcessHet=1.5895;FS=14.586;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.357;MQ=58.73;MQRankSum=-9.005;QD=1.42;ReadPosRankSum=3.57;SOR=2.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,20:202:99:0|1:124998111_A_C:292,0,7562:124998111	3	0	4	3
chr10	124998155	124998155	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A578G:p.N193S,CTBP2:NM_022802:exon4:c.A1994G:p.N665S,CTBP2:NM_001321013:exon5:c.A374G:p.N125S,CTBP2:NM_001083914:exon6:c.A374G:p.N125S,CTBP2:NM_001290214:exon6:c.A374G:p.N125S,CTBP2:NM_001290215:exon6:c.A374G:p.N125S,CTBP2:NM_001321012:exon6:c.A374G:p.N125S,CTBP2:NM_001321014:exon6:c.A374G:p.N125S,CTBP2:NM_001329:exon6:c.A374G:p.N125S	.	419	1085	14	4	0	22	0.0100365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	0.208769283267	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs75044667	1.374e-06	1.368e-06	2.732e-06	0	2.99e-05	2.3e-07	9e-08	.	.	2.99e-05	0	0	0	0	0	9.011e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.57480	D	0.022	0.58613	D	0.096	0.49025	B	0.081	0.54017	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.6	0.40776	L	-2.22	0.87038	D	-4.59	0.80085	D	0.972	0.98840	0.703	0.93209	D	0.755	0.91668	D	10	0.94003713	0.93330	D	0.208769	0.87164	D	0.784	0.92827	0.8	0.91946	0.820527500449	0.81883	0.9489215806514542	0.94875	1.33269775663	0.83674	0.757551014423	0.75565	T	0.72038	0.92093	D	0.123299	0.66703	D	-0.0606653	0.66286	T	0.993687450885773	0.84585	D	0.930707	0.74322	D	0.82816064	0.85776	0.72184896	0.83575	0.82816064	0.85777	0.72184896	0.83576	-11.156	0.85098	D	.	.	0.300	0.53001	B	.;.;.;.;.;.	.;.;.;.;.;.	4.333735	0.66432	25.0	0.99583134137918528	0.73159	0.90410	0.51563	D	AEFDGBCI	0.942200	0.94646	D	0.392304765554928	0.61005	4.295956	0.368241936699206	0.59616	4.140763	0.99999999999087	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.670000	0.82907	7.800000	0.69123	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.595000	0.31264	0.0:0.0:0.0:1.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	84.45	189	chr10	124998155	.	T	C	84.45	.	AC=1;AF=0.5;AN=2;BaseQRankSum=1.5;DP=1736;ExcessHet=0;FS=7.005;InbreedingCoeff=-0.3793;MLEAC=2;MLEAF=1;MQ=58.65;MQRankSum=-9.027;QD=0.7;ReadPosRankSum=-2.142;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:180,0:180:0:.:.:0,0,3574:.	0	0	1	9
chr10	124998169	124998169	-	TCGAGCTCG	exonic	CTBP2	.	nonframeshift insertion	CTBP2:NM_001363508:exon4:c.563_564insCGAGCTCGA:p.G188_I189insELE,CTBP2:NM_022802:exon4:c.1979_1980insCGAGCTCGA:p.G660_I661insELE,CTBP2:NM_001321013:exon5:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001083914:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001290214:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001290215:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001321012:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001321014:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE,CTBP2:NM_001329:exon6:c.359_360insCGAGCTCGA:p.G120_I121insELE	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	104.39	172	chr10	124998169	.	T	TTCGAGCTCG	104.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=1332;ExcessHet=0;FS=7.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=-8.629;QD=0.94;ReadPosRankSum=-3.88;SOR=1.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:153,0:153:99:.:.:0,120,1800:.	9	0	1	0
chr10	124998171	124998171	-	AGCAGCCTTGATGGCCACGT	splicing	CTBP2	NM_001290214:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001321013:exon5:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001329:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001290215:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001321012:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001321014:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001083914:exon6:c.359-1->ACGTGGCCATCAAGGCTGCT;NM_001363508:exon4:c.563-1->ACGTGGCCATCAAGGCTGCT;NM_022802:exon4:c.1979-1->ACGTGGCCATCAAGGCTGCT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	107.39	172	chr10	124998171	.	C	CAGCAGCCTTGATGGCCACGT	107.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=1299;ExcessHet=0;FS=7.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.11;MQRankSum=-8.589;QD=0.98;ReadPosRankSum=-3.237;SOR=1.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:146,0:146:99:.:.:0,120,1800:.	9	0	1	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	391.26	71	chr10	125003006	.	T	C	391.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.859;DP=1251;ExcessHet=0.7463;FS=1.556;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-7.525;QD=1.15;ReadPosRankSum=0.028;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:174,0:174:0:.:.:0,0,2060:.	5	0	2	3
chr10	125003007	125003010	ATCC	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon3:c.512_515del:p.R171Qfs*155,CTBP2:NM_022802:exon3:c.1928_1931del:p.R643Qfs*155,CTBP2:NM_001321013:exon4:c.308_311del:p.R103Qfs*155,CTBP2:NM_001083914:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001290214:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001290215:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001321012:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001321014:exon5:c.308_311del:p.R103Qfs*155,CTBP2:NM_001329:exon5:c.308_311del:p.R103Qfs*155	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	391.26	71	chr10	125003006	.	TATCC	T	391.26	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.859;DP=1251;ExcessHet=0.7463;FS=1.556;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.071;MQ=57.75;MQRankSum=-7.525;QD=1.15;ReadPosRankSum=0.028;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:174,0:174:0:.:.:0,0,2060:.	6	0	1	3
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	345.43	71	chr10	125003008	.	T	C	345.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.162;DP=1245;ExcessHet=0.7463;FS=1.552;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.72;MQRankSum=-7.525;QD=1.01;ReadPosRankSum=0.105;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:175,0:175:0:.:.:0,0,2091:.	5	0	2	3
chr10	125003008	125003008	T	0	exonic	CTBP2	.	.	.	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	345.43	71	chr10	125003008	.	T	*	345.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.162;DP=1245;ExcessHet=0.7463;FS=1.552;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.071;MQ=57.72;MQRankSum=-7.525;QD=1.01;ReadPosRankSum=0.105;SOR=0.891	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:175,0:175:0:.:.:0,0,2091:.	6	0	1	3
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	366.43	71	chr10	125003010	.	C	T	366.43	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.846;DP=1243;ExcessHet=0.7463;FS=1.56;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.143;MQ=57.67;MQRankSum=-7.424;QD=1.1;ReadPosRankSum=0.244;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:176,0:176:0:.:.:0,0,1963:.	5	0	2	3
chr10	125003010	125003010	C	0	exonic	CTBP2	.	.	.	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	366.43	71	chr10	125003010	.	C	*	366.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.846;DP=1243;ExcessHet=0.7463;FS=1.56;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.071;MQ=57.67;MQRankSum=-7.424;QD=1.1;ReadPosRankSum=0.244;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:176,0:176:0:.:.:0,0,1963:.	6	0	1	3
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	297.64	71	chr10	125003036	.	C	A	297.64	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.646;DP=1225;ExcessHet=0.2348;FS=8.24;InbreedingCoeff=-0.2455;MLEAC=3;MLEAF=0.214;MQ=57.55;MQRankSum=-7.113;QD=1.48;ReadPosRankSum=1.4;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:180,0:180:0:.:.:0,0,2216:.	5	0	2	3
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	467.54	71	chr10	125003062	.	T	A	467.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.847;DP=1240;ExcessHet=0.7463;FS=10.427;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.77;MQRankSum=-6.885;QD=1.42;ReadPosRankSum=1.84;SOR=1.614	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:169,0:169:0:.:.:0,0,2150:.	4	0	3	3
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	455.54	71	chr10	125003065	.	T	A	455.54	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.948;DP=1249;ExcessHet=0.7463;FS=10.458;InbreedingCoeff=-0.2903;MLEAC=4;MLEAF=0.286;MQ=57.8;MQRankSum=-6.885;QD=1.36;ReadPosRankSum=1.85;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:168,0:168:0:.:.:0,0,2162:.	4	0	3	3
chr10	125003091	125003091	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.C431T:p.A144V,CTBP2:NM_022802:exon3:c.C1847T:p.A616V,CTBP2:NM_001321013:exon4:c.C227T:p.A76V,CTBP2:NM_001083914:exon5:c.C227T:p.A76V,CTBP2:NM_001290214:exon5:c.C227T:p.A76V,CTBP2:NM_001290215:exon5:c.C227T:p.A76V,CTBP2:NM_001321012:exon5:c.C227T:p.A76V,CTBP2:NM_001321014:exon5:c.C227T:p.A76V,CTBP2:NM_001329:exon5:c.C227T:p.A76V	.	423	874	217	8	0	233	0.117617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.0396646121041	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs3198935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.04	0.53788	D	0.997	0.70673	D	0.9	0.67350	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.63	0.41750	L	0.64	0.52867	T	-3.59	0.72353	D	0.83	0.86404	-0.7342	0.58751	T	0.234	0.60063	T	10	0.85133255	0.84313	D	0.039665	0.58940	D	0.428	0.73517	0.615	0.74884	0.805301142055	0.80348	0.9739020719154817	0.97380	1.79913636405	0.91619	0.833252906799	0.87062	D	0.558733	0.85191	D	0.278003	0.81145	D	0.161556	0.80903	D	0.981222689151764	0.73791	D	0.836316	0.50742	T	0.71443444	0.78852	0.29747087	0.55780	0.71443444	0.78854	0.29747087	0.55779	-11.965	0.84680	D	.	.	0.991	0.94980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.805965	0.78137	26.8	0.99882348519737318	0.95813	0.98748	0.86347	D	AEFDGBCI	0.955612	0.97357	D	0.457477404135832	0.64629	4.721769	0.367611348405123	0.59576	4.136584	1.0	0.98316	0.645754	0.44609	0	0.633656	0.55848	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	10.003000	0.99689	11.683000	0.94248	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.222000	0.22517	0.0:0.0:1.0:0.0	17.956	0.88988	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	39.52	71	chr10	125003091	.	G	A	39.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.358;DP=1120;ExcessHet=0;FS=4.623;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=56.9;MQRankSum=-5.513;QD=0.41;ReadPosRankSum=-1.246;SOR=0.691	GT:AD:DP:GQ:PL	./.:148,0:148:0:0,0,2096	6	0	1	3
chr10	125003357	125003357	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C398T:p.T133M,CTBP2:NM_022802:exon2:c.C1814T:p.T605M,CTBP2:NM_001321013:exon3:c.C194T:p.T65M,CTBP2:NM_001083914:exon4:c.C194T:p.T65M,CTBP2:NM_001290214:exon4:c.C194T:p.T65M,CTBP2:NM_001290215:exon4:c.C194T:p.T65M,CTBP2:NM_001321012:exon4:c.C194T:p.T65M,CTBP2:NM_001321014:exon4:c.C194T:p.T65M,CTBP2:NM_001329:exon4:c.C194T:p.T65M	.	424	862	235	1	0	237	0.120857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.785	0.338057885342	.	.	1.698e-05	0	0	0	0	3.122e-05	0	0	1.29e-05	2	154602	rs768573864	8.23e-06	8.209e-06	1.092e-05	5.513e-06	8.998e-06	4.39e-06	3.47e-06	4.55e-06	3.32e-06	0	0	0	0	1.905e-05	0	8.998e-06	1.662e-05	0	6.571e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.78490	D	0.041	0.58089	D	0.924	0.73220	P	0.646	0.66904	P	0.000000	0.84330	D	0.047645	1	0.81001	D	1.975	0.53506	M	-1.93	0.84842	D	-5.55	0.89152	D	0.825	0.82964	0.559	0.91361	D	0.703	0.89790	D	10	0.84322035	0.83481	D	0.338058	0.91938	D	0.785	0.92868	0.55	0.66576	0.871695389801	0.87044	0.8858696461970613	0.88555	2.04020034352	0.94242	0.847845315933	0.89288	D	0.769737	0.93827	D	0.312043	0.83899	D	0.210452	0.83688	D	0.965979218482971	0.67436	D	0.89801	0.64352	D	0.83755374	0.86434	0.83579093	0.90562	0.83755374	0.86436	0.83579093	0.90562	-13.803	0.92478	D	.	.	0.915	0.83817	P	.;.;.;.;.;.	.;.;.;.;.;.	5.948125	0.94152	33	0.9988098438978944	0.95733	0.97166	0.73078	D	AEFDGBHCI	0.946022	0.95501	D	0.641428984643706	0.75816	6.373162	0.605033197001249	0.75304	6.287037	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	9.992000	0.99232	11.673000	0.94126	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	17.367	0.87255	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	39.42	125	chr10	125003357	.	G	A	39.42	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.2;DP=817;ExcessHet=0.2348;FS=9.155;InbreedingCoeff=-0.1381;MLEAC=2;MLEAF=0.111;MQ=59.38;MQRankSum=-9.193;QD=0.22;ReadPosRankSum=-3.183;SOR=1.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,7:90:44:0|1:125003357_G_A:44,0,3444:125003357	7	0	2	1
chr10	125003368	125003368	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C387G:p.D129E,CTBP2:NM_022802:exon2:c.C1803G:p.D601E,CTBP2:NM_001321013:exon3:c.C183G:p.D61E,CTBP2:NM_001083914:exon4:c.C183G:p.D61E,CTBP2:NM_001290214:exon4:c.C183G:p.D61E,CTBP2:NM_001290215:exon4:c.C183G:p.D61E,CTBP2:NM_001321012:exon4:c.C183G:p.D61E,CTBP2:NM_001321014:exon4:c.C183G:p.D61E,CTBP2:NM_001329:exon4:c.C183G:p.D61E	.	430	852	239	1	0	241	0.123907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0278736828157	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.52492	D	0.035	0.76473	D	0.057	0.33445	B	0.084	0.45295	B	0.000001	0.84330	D	0.093937	0.998215	0.47795	D	1.255	0.31814	L	0.84	0.47477	T	-3.72	0.73151	D	0.731	0.74280	-0.8081	0.54665	T	0.168	0.50745	T	10	0.57244885	0.65394	D	0.027874	0.50634	D	0.229	0.52916	0.567	0.68901	0.742667268481	0.74035	0.9372575970872389	0.93705	0.839287628383	0.67962	0.822298943996	0.85381	D	0.532581	0.83851	D	-0.00859042	0.50463	T	-0.250116	0.49806	T	0.95814836025238	0.65193	D	0.816918	0.54045	T	0.61954224	0.73738	0.49464875	0.70773	0.61954224	0.73740	0.49464875	0.70773	-13.991	0.95421	D	.	.	0.998	0.97084	P	.;.;.;.;.;.	.;.;.;.;.;.	1.288935	0.16893	12.83	0.98899659867088185	0.48163	0.32479	0.24596	N	AEFDGBHCI	0.425946	0.49050	N	-0.575959099119209	0.19677	1.031687	-0.660887068078052	0.17942	0.9563054	0.999999886987385	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	-4.33	0.03423	-0.760000	0.04861	-7.833000	0.01078	0.662000	0.56354	0.017000	0.19353	0.000000	0.08366	0.996000	0.76049	0.7124:0.0:0.2876:0.0	14.997	0.71096	923	0.18507	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	68.67	132	chr10	125003368	.	G	C	68.67	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.671;DP=906;ExcessHet=0.2348;FS=2.453;InbreedingCoeff=-0.1714;MLEAC=2;MLEAF=0.125;MQ=59.37;MQRankSum=-9.3;QD=0.39;ReadPosRankSum=-2.399;SOR=1.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,8:89:72:0|1:125003357_G_A:72,0,3377:125003357	6	0	2	2
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	255.6	126	chr10	125003381	.	AC	A	255.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.92;DP=975;ExcessHet=2.8389;FS=3.831;InbreedingCoeff=-0.3364;MLEAC=5;MLEAF=0.25;MQ=59.35;MQRankSum=-9.355;QD=0.51;ReadPosRankSum=-1.661;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,9:82:99:0|1:125003381_AC_A:158,0,3031:125003381	5	0	5	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	344.3	105	chr10	125003448	.	G	C	344.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.532;DP=844;ExcessHet=1.5895;FS=5.299;InbreedingCoeff=-0.3457;MLEAC=5;MLEAF=0.313;MQ=59.2;MQRankSum=-8.746;QD=0.96;ReadPosRankSum=0.877;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,8:76:99:0|1:125003425_G_C:131,0,2831:125003425	4	0	4	2
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	137.38	107	chr10	125003450	.	G	A	137.38	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.425;DP=840;ExcessHet=0.7463;FS=2.377;InbreedingCoeff=-0.243;MLEAC=3;MLEAF=0.188;MQ=59.31;MQRankSum=-8.802;QD=0.49;ReadPosRankSum=0.502;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,5:72:8:0|1:125003425_G_C:8,0,2798:125003425	5	0	3	2
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	145.77	106	chr10	125003453	.	CG	C	145.77	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.326;DP=826;ExcessHet=0.7463;FS=2.242;InbreedingCoeff=-0.1688;MLEAC=3;MLEAF=0.15;MQ=59.3;MQRankSum=-8.859;QD=0.54;ReadPosRankSum=0.366;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,5:72:8:0|1:125003425_G_C:8,0,2798:125003425	7	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	179.43	109	chr10	125003460	.	G	T	179.43	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.177;DP=817;ExcessHet=0.7463;FS=2.452;InbreedingCoeff=-0.2542;MLEAC=3;MLEAF=0.188;MQ=59.32;MQRankSum=-8.742;QD=0.68;ReadPosRankSum=-0.114;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,5:70:14:0|1:125003425_G_C:14,0,2714:125003425	5	0	3	2
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	200.64	99	chr10	125003466	.	G	T	200.64	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.217;DP=796;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1633;MLEAC=2;MLEAF=0.1;MQ=59.31;MQRankSum=-8.566;QD=0.78;ReadPosRankSum=-0.838;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,5:73:5:0|1:125003425_G_C:5,0,2840:125003425	7	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	211.86	95	chr10	125003468	.	C	A	211.86	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.097;DP=787;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1704;MLEAC=3;MLEAF=0.15;MQ=59.31;MQRankSum=-8.566;QD=0.84;ReadPosRankSum=-0.845;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,5:72:8:0|1:125003425_G_C:8,0,2773:125003425	7	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	231.14	94	chr10	125003470	.	G	T	231.14	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.22;DP=766;ExcessHet=0.7463;FS=1.074;InbreedingCoeff=-0.2698;MLEAC=3;MLEAF=0.188;MQ=59.28;MQRankSum=-8.275;QD=0.94;ReadPosRankSum=-0.743;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,5:70:14:0|1:125003425_G_C:14,0,2689:125003425	5	0	3	2
chr10	125003491	125003491	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon2:c.T1680A:p.S560R	.	420	1097	5	0	0	5	0.00227376	0.0001	0.09	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.477	0.214387794182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.016	0.60972	D	0.813	0.45457	P	0.409	0.44752	B	0.120212	0.19044	N	0.623124	1	0.81001	D	.	.	.	-1.85	0.84267	D	-1.69	0.40274	N	0.82	0.81559	-0.1913	0.77895	T	0.489	0.80565	T	9	0.75226426	0.75723	D	0.214388	0.87455	D	0.477	0.76881	0.427	0.47350	0.792541464948	0.79061	0.6253988332573677	0.62472	0.162367538727	0.18315	0.613913297653	0.54869	T	.	.	.	0.0835129	0.62450	D	-0.117816	0.61982	T	0.946590483188629	0.62503	D	0.790821	0.43180	T	.	.	.	.	.	.	.	.	-6.658	0.51493	T	.	.	0.947	0.86575	P	.	.	3.457030	0.48168	22.6	0.99726346640516361	0.82406	0.87670	0.47287	D	AEFDBHCI	0.334004	0.43291	N	0.43266425900824	0.63228	4.552434	0.267884646439281	0.53674	3.535174	0.999994960590163	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	0.586	0.16618	2.212000	0.42474	2.756000	0.34570	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.7154:0.0:0.2846:0.0	9.132	0.36011	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	59.91	77	chr10	125003491	.	A	T	59.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=3.46;DP=697;ExcessHet=0;FS=7.786;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.333;MQ=59.23;MQRankSum=-7.442;QD=0.88;ReadPosRankSum=-1.947;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,120,1800:.	2	0	1	7
chr10	125003493	125003493	-	TCACAAATTCTGTCCAA	splicing	CTBP2	NM_001290214:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321013:exon3:c.59-1->TTGGACAGAATTTGTGA;NM_001329:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001290215:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321012:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001321014:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001083914:exon4:c.59-1->TTGGACAGAATTTGTGA;NM_001363508:exon2:c.263-1->TTGGACAGAATTTGTGA;NM_022802:exon2:c.1679-1->TTGGACAGAATTTGTGA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	54.06	72	chr10	125003493	.	C	CTCACAAATTCTGTCCAA	54.06	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.96;DP=682;ExcessHet=0;FS=7.786;InbreedingCoeff=-0.0846;MLEAC=1;MLEAF=0.056;MQ=59.24;MQRankSum=-7.442;QD=0.79;ReadPosRankSum=-2.756;SOR=2.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,105,1773:.	8	0	1	1
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039033	.	T	A	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.24;DP=898;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.76;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.451;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,12:155:73:0|1:125039033_T_A:73,0,5869:125039033	6	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039035	.	T	C	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.41;DP=890;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.74;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.442;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,12:155:73:0|1:125039033_T_A:73,0,5869:125039033	6	0	4	0
chr10	125576858	125576858	G	A	exonic	TEX36	.	nonsynonymous SNV	TEX36:NM_001318133:exon4:c.C281T:p.T94M	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00339457	0.0058	0	0.0053	0	0	0.0086	0	0.0051	0.0013842	214	154602	rs77774010	0.0098	0.0093	0.0100	0.0097	0.0148	0.0097	0.0097	0.0122	0.0113	0.0012	0.0054	0.0053	5.597e-05	0.0100	0.0148	0.0111	0.0094	0.0040	0.0071	0.0071	0.0071	0.0072	0.0111	0.0068	0.0066	0.0104	0.0102	0.0018	0.0033	0.0056	0.0055	0	0.0086	0.0102	0.0111	0.0137	0.0050	0.064	0.36509	T	0.068	0.44106	T	0.98	0.59353	D	0.541	0.48869	P	.	.	.	.	1	0.08975	N	.	.	.	0.9	0.45248	T	-0.83	0.22727	N	0.068	0.04072	-1.0342	0.19109	T	0.070	0.28740	T	8	0.005066544	0.00109	T	.	.	.	0.069	0.20116	.	.	0.115124310173	0.11017	.	.	.	.	.	.	.	0.015888	0.13236	T	-0.71423	0.00030	T	-0.787688	0.02229	T	0.00483143693266006	0.00052	T	0.405359	0.10397	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14751	B	.	.	0.545452	0.09141	5.923	0.90987877252136895	0.20237	0.00587	0.02638	N	AEFBI	0.025843	0.01838	N	-0.519285017956033	0.21456	1.138853	-0.78107368167306	0.14959	0.7843592	3.26355241941716E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.07	-0.0915	0.12996	-0.104000	0.10893	-0.314000	0.10017	-0.830000	0.02882	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4177:0.0:0.5823:0.0	4.337	0.10527	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1703.43	35	chr10	125576858	.	G	A	1703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=485;ExcessHet=0;FS=5.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.849;SOR=0.378	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr10	125867183	125867183	C	A	exonic	DHX32	.	nonsynonymous SNV	DHX32:NM_018180:exon2:c.G283T:p.V95F	.	.	.	.	.	.	.	.	0.9998	0.936	.	3808181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.976	0.58310	D	0.601	0.50808	P	0.000004	0.62929	D	0.065998	0.808215	0.52935	D	3.755	0.95055	H	3.89	0.03544	T	-3.41	0.70920	D	0.48	0.51494	-1.0559	0.12803	T	0.035	0.15291	T	10	0.5007686	0.61534	D	0.014319	0.34357	T	0.291	0.61040	0.515	0.61459	0.677927297446	0.67519	0.9001935188388991	0.89991	0.863305579176	0.69068	0.537627339363	0.44111	T	0.30659	0.67878	T	0.0563191	0.59150	T	-0.156878	0.58630	T	0.989100992679596	0.79363	D	0.938406	0.76842	D	0.6170381	0.73605	0.5057987	0.71436	0.6170381	0.73606	0.5057987	0.71436	-6.454	0.49930	T	.	.	0.600	0.71652	P	.;.	.;.	6.145948	0.94664	34	0.99645077669501203	0.76943	0.92543	0.55958	D	AEFBHCI	0.602608	0.59440	D	0.654917674335035	0.76689	6.532898	0.610636340121692	0.75711	6.359108	0.999999989915846	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	1.155000	0.31311	5.874000	0.50567	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.736000	0.35301	0.0:0.9222:0.0:0.0778	11.973	0.52362	956	0.09877	Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	812.43	33	chr10	125867183	.	C	A	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.884;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=-0.008;SOR=0.562	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1483	9	0	1	0
chr10	127175720	127175720	C	T	exonic	INSYN2A	.	nonsynonymous SNV	INSYN2A:NM_001039762:exon4:c.G676A:p.G226R	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0112992226738	0.0030	0.00259585	0.0020	0.0074	0.0017	0	0.0009	0.0014	0.0023	0.0027	0.0018887	292	154602	rs142182142	0.0012	0.0012	0.0011	0.0012	0.0074	0.0011	0.0011	0.0066	0.0063	0.0074	0.0013	0.0072	0	0.0003	0.0043	0.0006	0.0022	0.0037	0.0031	0.0031	0.0031	0.0031	0.0077	0.0029	0.0028	0.0070	0.0067	0.0077	0	0.0025	0.0089	0	0.0005	0.0068	0.0008	0.0024	0.0037	0.087	0.32453	T	0.087	0.40747	T	0.012	0.16265	B	0.003	0.08700	B	0.012180	0.29266	N	0.350111	0.873229	0.35603	D	.	.	.	1.04	0.40218	T	-2.0	0.46146	N	0.126	0.17416	-1.0342	0.19109	T	0.054	0.22883	T	10	0.0042294264	0.00085	T	0.011299	0.28784	T	0.028	0.06331	0.149	0.05238	0.043077524339	0.03247	0.24586080574377728	0.24500	0.164511453651	0.18562	0.358432710171	0.19157	T	0.031212	0.21937	T	-0.565677	0.00235	T	-0.581187	0.14440	T	0.00414775652868953	0.00044	T	0.691431	0.30091	T	0.04648569	0.07787	0.07896753	0.17735	0.04648569	0.07787	0.07896753	0.17734	-3.002	0.10809	T	.	.	0.123	0.34492	B	.;.;.	.;.;.	0.890101	0.12634	9.161	0.95506665410855396	0.27106	0.16954	0.19624	N	AEFDBI	0.088975	0.18035	N	-0.827322979921213	0.12614	0.6160055	-0.872604145452757	0.12745	0.6573847	0.815740889274689	0.24435	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	3.69	1.8	0.24069	0.352000	0.19851	0.084000	0.14428	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.7599:0.1527:0.0874	8.766	0.33859	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007056	0.020408	0.013587	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	804.43	38	chr10	127175720	.	C	T	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.811;SOR=0.696	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1381	9	0	1	0
chr10	127272081	127272081	C	A	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377561:exon30:c.C3115A:p.L1039M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.771e-06	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	44.51	.	chr10	127272081	.	C	A	44.51	.	AC=2;AF=0.5;AN=4;DP=3;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=60;QD=22.26;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	1	1	0	8
chr10	127878384	127878384	G	A	exonic	CLRN3	.	nonsynonymous SNV	CLRN3:NM_152311:exon3:c.C446T:p.A149V	.	.	.	.	.	.	.	.	.	.	.	3944818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.043704810192	7.7e-05	.	7.414e-05	0	0	0.0001	0	2.997e-05	0	0.0004	6.47e-05	10	154602	rs150481499	5.609e-05	5.609e-05	5.309e-05	5.913e-05	0.0003	4.61e-05	4.236e-05	0.0002	0.0002	0	2.236e-05	3.826e-05	5.038e-05	0	0	4.406e-05	4.967e-05	0.0003	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	0.203	0.20154	T	0.174	0.30045	T	0.001	0.07471	B	0.001	0.04355	B	0.968563	0.08175	N	0.984034	0.616233	0.32665	D	-0.55	0.02420	N	-1.29	0.79475	T	-0.63	0.18459	N	0.022	0.00372	-0.9123	0.46569	T	0.228	0.59271	T	10	0.048254073	0.04250	T	0.043705	0.61120	D	0.214	0.50650	.	.	0.389596023526	0.38570	0.3346757016404029	0.33380	0.0521099391984	0.05734	0.315207511187	0.12695	T	0.005964	0.05402	T	-0.456806	0.01029	T	-0.597754	0.13001	T	0.0235850401652484	0.01093	T	0.646635	0.25786	T	0.029223142	0.02383	0.0542079	0.09279	0.029223142	0.02383	0.0542079	0.09279	-3.238	0.12951	T	.	.	0.080	0.07937	B	.	.	-0.110384	0.03581	0.696	0.93116627627700455	0.22751	0.05818	0.11757	N	AEFDBI	0.088952	0.18031	N	-1.0973095549778	0.06692	0.3088108	-1.04712445971095	0.08766	0.432656	0.998896641652108	0.37915	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.01	-3.13	0.04944	-0.287000	0.08423	-0.199000	0.10963	-0.179000	0.10443	0.702000	0.28645	0.000000	0.08366	0.274000	0.23868	0.6081:0.1888:0.2031:0.0	8.856	0.34386	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1935.43	37	chr10	127878384	.	G	A	1935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.365;DP=463;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.975;SOR=0.602	GT:AD:DP:GQ:PL	0/1:70,81:151:99:1947,0,1683	9	0	1	0
chr10	128115599	128115599	T	C	exonic	MKI67	.	nonsynonymous SNV	MKI67:NM_002417:exon7:c.A809G:p.Y270C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00218559859449	.	.	5.771e-05	0	0	0.0006	0	0	0	0.0001	4.53e-05	7	154602	rs762630569	2.257e-05	2.257e-05	1.497e-05	3.025e-05	0.0004	1.61e-05	1.416e-05	0.0003	0.0002	0	2.236e-05	0	0.0004	0	0.0002	8.993e-07	3.311e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.142	0.33330	T	0.001	0.07471	B	0.002	0.06944	B	0.085601	0.02400	N	2.039830	1	0.08975	N	0	0.06538	N	1.94	0.22678	T	-0.25	0.11008	N	0.098	0.07949	-1.0122	0.26228	T	0.022	0.09238	T	10	0.022751093	0.00577	T	0.002186	0.04098	T	0.017	0.02790	.	.	0.162503812791	0.15892	0.0902388759442695	0.08956	0.0491618882954	0.05378	0.22301197052	0.01491	T	0.005566	0.05022	T	-0.599278	0.00147	T	-0.768597	0.02814	T	0.0225474106477758	0.00970	T	0.446155	0.12501	T	0.041938398	0.06268	0.025387105	0.00582	0.041938398	0.06267	0.025387105	0.00582	-2.088	0.03533	T	.	.	0.085	0.09965	B	.	.	1.059723	0.14413	10.99	0.9699801004356674	0.31928	0.01559	0.05102	N	AEFBHCI	0.017126	0.00429	N	-1.24580935439499	0.04355	0.196399	-1.31217749284486	0.04271	0.2011365	0.999745287317405	0.42466	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	3.59	-3.53	0.04369	-0.302000	0.08259	-2.043000	0.04299	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.247000	0.23184	0.1709:0.2381:0.1615:0.4295	0.823	0.01044	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2158.43	192	chr10	128115599	.	T	C	2158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.84;DP=522;ExcessHet=0;FS=1.808;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-1.415;SOR=0.54	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr10	130079621	130079621	T	A	exonic	C10orf143	.	nonsynonymous SNV	C10orf143:NM_001355042:exon3:c.A242T:p.Q81L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08990216	0.15614	T	.	.	.	.	.	.	.	.	.	0.024271035110546842	0.02378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311269	0.06060	T	0.16398282	0.36575	0.22444378	0.47356	0.16398282	0.36575	0.22444378	0.47355	-3.141	0.11773	T	.	.	0.161	0.35498	B	.	.	0.063278	0.04735	1.365	0.76674671747785361	0.11563	0.04622	0.10284	N	AEFCI	.	.	.	.	.	.	.	.	.	0.14529956413474	0.17347	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.101684	0.03063	0	0.134497	0.26212	5.39	-4.91	0.02857	-1.804000	0.01834	-5.688000	0.01630	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.0968:0.1372:0.4545:0.3115	4.168	0.09780	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	39.93	.	chr10	130079621	.	T	A	39.93	.	AC=2;AF=0.25;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=19.97;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	6
chr10	131970666	131970666	G	A	exonic	BNIP3	.	nonsynonymous SNV	BNIP3:NM_004052:exon5:c.C706T:p.L236F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.00838545504326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.191	0.43721	T	.	.	.	.	.	.	0.000120	0.50451	D	0.147023	0.999994	0.58761	D	.	.	.	.	.	.	.	.	.	0.602	0.62018	-0.2121	0.77359	T	0.400	0.75130	T	9	0.41379318	0.56404	T	0.008385	0.22181	T	0.238	0.54217	.	.	0.500994481783	0.49735	0.7413383291708545	0.74079	1.09635788658	0.77590	0.638146281242	0.58300	T	.	.	.	0.0403246	0.57090	T	-0.179853	0.56537	T	0.949204385280609	0.63062	D	0.939006	0.77019	D	0.1524084	0.34598	0.15168965	0.35721	0.1524084	0.34597	0.15168965	0.35720	-9.261	0.69362	D	.	.	0.42	0.60667	A	.;.	.;.	4.232503	0.64109	24.7	0.99833933437728273	0.91542	0.86824	0.46190	D	AEFDBCI	0.298286	0.40764	N	0.509261380632509	0.67634	5.108092	0.447473131187209	0.64554	4.713309	0.999388797983373	0.39415	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.3	4.3	0.50540	1.356000	0.33683	9.651000	0.81171	0.672000	0.70159	0.999000	0.42656	1.000000	0.68203	0.904000	0.43992	0.0:0.0:1.0:0.0	17.659	0.88088	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	727.57	37	chr10	131970666	.	G	A	727.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.948;DP=1168;ExcessHet=1.5895;FS=186.628;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=59.88;MQRankSum=0.679;QD=0.79;ReadPosRankSum=2.42;SOR=11.197	GT:AD:DP:GQ:PL	0/1:182,60:242:44:44,0,3264	6	0	4	0
chr10	132405138	132405138	G	A	exonic	PWWP2B	.	nonsynonymous SNV	PWWP2B:NM_001098637:exon2:c.G638A:p.R213H,PWWP2B:NM_138499:exon2:c.G638A:p.R213H	.	416	1103	3	0	0	3	0.00135808	.	.	.	2235964	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0786612147463	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs746690563	9.555e-05	0.0001	8.216e-05	0.0001	0.0021	8.216e-05	7.672e-05	0.0011	0.0008	9.569e-05	2.809e-05	0	5.62e-05	0	0.0021	8.454e-05	0.0002	0.0002	3.286e-05	3.284e-05	2.57e-05	4.036e-05	4.411e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0064	4.411e-05	0	0	0.032	0.44694	D	0.095	0.48855	T	0.971	0.57185	D	0.374	0.43683	B	0.052232	0.02034	U	2.387200	1	0.08975	N	0.92	0.23413	L	0.39	0.57419	T	-2.04	0.46842	N	0.096	0.10340	-0.9535	0.40363	T	0.102	0.37568	T	10	0.12253016	0.23245	T	0.078661	0.73056	D	0.083	0.24192	0.162	0.06618	0.043077524339	0.03247	0.19073992677059629	0.18991	0.744720512614	0.63449	0.81004178524	0.83499	D	0.023981	0.18205	T	-0.296205	0.09023	T	-0.408209	0.32432	T	0.561259806156158	0.34902	D	0.435056	0.11905	T	0.048500348	0.08463	0.06017383	0.11416	0.048500348	0.08462	0.06017383	0.11416	-6.053	0.48453	T	.	.	0.093	0.13830	B	.;.	.;.	0.823500	0.11949	8.509	0.99807490237497609	0.89174	0.00733	0.03071	N	AEFDBHCI	0.026487	0.01998	N	-0.60035265571124	0.18934	0.9870239	-0.781849621112212	0.14939	0.7832674	0.999987088880472	0.51787	0.001892	0.00033	3	0.547309	0.14657	0	0.505578	0.09266	0	0.491896	0.07777	0	.	.	3.85	-1.85	0.07363	0.566000	0.23296	-0.572000	0.08421	-0.823000	0.02940	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.5964:0.1753:0.2283:0.0	5.128	0.14227	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001075	0.000000	0.002899	0.003030	0.000000	0.000000	0.003268	0.000000	0.05	131.43	27	chr10	132405138	.	G	A	131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=214;ExcessHet=0;FS=7.782;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-0.936;SOR=0.598	GT:AD:DP:GQ:PL	0/1:4,5:9:99:143,0,108	9	0	1	0
chr10	132781888	132781888	C	T	exonic	INPP5A	.	nonsynonymous SNV	INPP5A:NM_001321042:exon12:c.C994T:p.P332S,INPP5A:NM_005539:exon15:c.C1186T:p.P396S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0836222431333	0.0011	0.000599042	0.0003	0.0037	0.0002	0	0	0	0	0	0.0002717	42	154602	rs145146330	8.485e-05	8.482e-05	0.0001	6.052e-05	0.0030	7.21e-05	6.798e-05	0.0026	0.0024	0.0030	0.0003	0	0	0	0.0002	0	9.936e-05	0	0.0009	0.0009	0.0010	0.0009	0.0032	0.0008	0.0008	0.0027	0.0025	0.0032	0	0.0006	0	0	0	0	0	0.0005	0	0.463	0.19854	T	0.662	0.06469	T	0.043	0.21573	B	0.016	0.17743	B	0.000635	0.42799	D	0.159252	0.62762	0.30726	N	0.55	0.14455	N	1.01	0.95145	T	0.48	0.06739	N	0.462	0.49874	-0.4240	0.71261	T	0.462	0.79179	T	10	0.008386552	0.00190	T	0.083622	0.74153	D	0.175	0.44197	.	.	0.218628672733	0.21463	0.3318425040940597	0.33097	1.41999816827	0.85601	0.441085755825	0.30725	T	0.086795	0.37801	T	-0.226254	0.17148	T	-0.0998803	0.63406	T	0.0164747373627643	0.00412	T	0.905909	0.66829	D	0.050521173	0.09141	0.053769443	0.09122	0.050521173	0.09141	0.053769443	0.09121	-7.398	0.56890	T	.	.	0.105	0.32756	B	.;.	.;.	3.341898	0.46053	22.2	0.97402908543049915	0.33785	0.79617	0.39487	D	AEFDBI	0.219269	0.34417	N	-0.48365673579722	0.22617	1.208868	-0.314376301531718	0.27633	1.53478	0.00746483211922467	0.11472	0.609539	0.35627	0	0.588066	0.40923	0	0.493711	0.08198	1	0.542086	0.14980	0	.	.	4.25	2.18	0.26813	3.427000	0.52552	3.774000	0.39765	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2566:0.3739:0.3696:0.0	7.318	0.25683	994	0.00715	Inositol polyphosphate-related phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1181.43	35	chr10	132781888	.	C	T	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.468;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.827;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1272	9	0	1	0
chr10	132808608	132808608	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon58:c.C7961T:p.A2654V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0155790121842	0.0007	0.000798722	0.0009	0.0011	0.0014	0	0.0002	0.0012	0.0013	6.535e-05	0.0006468	100	154602	rs142644767	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	0.0007	0.0008	0.0107	0	0	0.0017	0.0002	0.0012	8.123e-05	0.0006	0.0006	0.0007	0.0004	0.0008	0.0005	0.0004	0.0005	0.0004	0.0005	0	0.0008	0.0098	0	9.427e-05	0.0034	0.0003	0	0	0.0	0.91255	D	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.78	0.11298	T	0.02	0.06739	N	0.026	0.00527	-1.0049	0.28487	T	0.017	0.07045	T	9	0.0058736503	0.00131	T	0.015579	0.36391	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.017245659252883374	0.01679	0.107462244977	0.12125	0.315152853727	0.12686	T	0.009319	0.08490	T	-0.664193	0.00059	T	-0.777284	0.02536	T	0.00196549267325727	0.00020	T	0.352865	0.07937	T	0.04411537	0.06997	0.059964586	0.11343	0.04411537	0.06997	0.059964586	0.11342	-4.466	0.30441	T	.	.	0.068	0.02927	B	.	.	-0.928931	0.00878	0.031	0.48893718970617395	0.04118	0.00829	0.03338	N	AEFDBCI	0.029143	0.02698	N	-1.84715180353242	0.00440	0.01891586	-1.95344401509453	0.00382	0.01689991	0.0075482397723308	0.11491	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	1.6	-3.2	0.04838	-1.944000	0.01629	-2.356000	0.03857	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2069:0.2618:0.368:0.1633	1.213	0.01792	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004149	0.005102	0.006812	0.000000	0.050000	0.000000	0.000000	0.000000	0.05	951.43	45	chr10	132808608	.	G	A	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.651;DP=407;ExcessHet=0;FS=3.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.516;SOR=1.195	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,979	9	0	1	0
chr10	132850429	132850429	A	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon41:c.T5767C:p.W1923R	.	422	990	104	6	0	116	0.0553435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	0.0049	0.00698882	0.0251	0.0032	0.0181	0	0.0076	0.0216	0.0670	0.0544	0.0075549	1168	154602	rs151247898	0.0098	0.0098	0.0090	0.0106	0.0394	0.0097	0.0096	0.0352	0.0335	0.0016	0.0064	0.0063	0.0001	0.0023	0.0394	0.0092	0.0105	0.0306	0.0077	0.0077	0.0078	0.0076	0.0319	0.0073	0.0072	0.0278	0.0263	0.0018	0.0242	0.0105	0.0066	0.0002	0.0020	0.0136	0.0101	0.0109	0.0319	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000100	0.51296	D	0.000000	0.972875	0.25577	N	.	.	.	0.18	0.60361	T	-6.82	0.92980	D	0.862	0.85872	-0.5380	0.67239	T	0.235	0.60234	T	10	0.008827597	0.00200	T	.	.	.	0.399	0.71321	.	.	0.468420198123	0.46471	0.5736029430132835	0.57289	0.719680404555	0.62146	0.545271277428	0.45189	T	0.201223	0.55904	T	-0.258478	0.13079	T	-0.122432	0.61602	T	0.0439943876900533	0.04419	T	0.339966	0.07337	T	0.86401325	0.88393	0.6436816	0.79174	0.86401325	0.88395	0.6436816	0.79174	-9.648	0.71778	D	.	.	0.911	0.83497	P	.	.	3.258967	0.44559	22.0	0.97795370841995799	0.36027	0.21783	0.21522	N	AEFDBI	0.078318	0.15800	N	0.24639609896864	0.53461	3.514831	0.110938199862891	0.45107	2.779827	0.00201962742530028	0.09087	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.14	4.14	0.47821	2.663000	0.46440	3.858000	0.40123	0.756000	0.94297	0.983000	0.35670	0.996000	0.32793	0.049000	0.15107	1.0:0.0:0.0:0.0	9.858	0.40267	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032760	0.016484	0.031335	0.032847	0.000000	0.034483	0.039735	0.030534	0.1	2189.14	33	chr10	132850429	.	A	G	2189.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.624;DP=486;ExcessHet=0.2348;FS=4.853;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.703;SOR=1.03	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	8	0	2	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1399.41	31	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	1399.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.537;DP=358;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-2.813;SOR=0.639	GT:AD:DP:GQ:PL	0/0:27,0:27:56:0,56,700	7	0	3	0
chr10	132885246	132885246	C	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon27:c.G3484A:p.G1162R	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.341176242787	.	.	0.0014	0.0011	0	0	0.0006	0.0025	0	0.0011	0.0005886	91	154602	rs200473624	0.0027	0.0026	0.0027	0.0027	0.0033	0.0027	0.0026	0.0033	0.0032	0.0005	0.0004	0	0	0.0001	0.0005	0.0033	0.0019	0.0009	0.0016	0.0016	0.0019	0.0014	0.0029	0.0015	0.0014	0.0026	0.0025	0.0007	0	0.0008	0	0	9.425e-05	0.0034	0.0029	0.0005	0.0010	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.759145	0.29557	N	.	.	.	1.32	0.35219	T	-5.8	0.88148	D	0.758	0.75650	-0.2904	0.75255	T	0.372	0.73129	T	6	0.13353616	0.25415	T	0.341176	0.92019	D	0.358	0.67872	0.421	0.46365	0.209622950755	0.20551	0.3255395842464103	0.32466	0.587679702723	0.54339	0.738591432571	0.72765	T	0.239447	0.60757	T	-0.212352	0.19049	T	-0.076576	0.65154	T	0.121017459358443	0.14529	T	0.828317	0.49240	T	0.66851425	0.76353	0.7011031	0.82388	0.66851425	0.76354	0.7011031	0.82389	-9.15	0.68657	D	.	.	0.613	0.69407	P	.	.	4.307239	0.65809	24.9	0.99878851047776018	0.95572	0.73779	0.36088	D	AEFBCI	0.361847	0.45131	N	0.0829034617826092	0.45667	2.819351	0.0660157297662892	0.42852	2.599336	0.940909218668569	0.27452	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.16	4.16	0.48138	5.151000	0.64720	7.318000	0.58153	0.544000	0.25403	0.998000	0.41325	1.000000	0.68203	0.405000	0.26894	0.0:1.0:0.0:0.0	15.242	0.73174	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1770.43	35	chr10	132885246	.	C	T	1770.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=578;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1;SOR=0.927	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	9	0	1	0
chr10	132885935	132885935	C	G	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon26:c.G3329C:p.R1110P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.16813687384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.153e-07	6.84e-07	0	1.45e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.51	0.14284	T	-5.15	0.83357	D	0.75	0.74918	-0.8779	0.49927	T	0.188	0.53797	T	6	0.8559004	0.84786	D	0.168137	0.84632	D	0.229	0.52916	0.697	0.83406	0.117506650769	0.11410	0.802744652548951	0.80228	0.641823961811	0.57762	0.536645650864	0.43971	T	0.247414	0.61705	T	-0.018043	0.49132	T	-0.263694	0.48454	T	0.969066619873047	0.68459	D	0.732627	0.34815	T	0.6223112	0.73887	0.61007005	0.77319	0.6223112	0.73888	0.61007005	0.77320	-13.541	0.91469	D	.	.	0.941	0.85964	P	.	.	3.571598	0.50303	22.9	0.98745342258114033	0.45572	0.69867	0.34359	D	AEFDBHCI	0.144581	0.26758	N	-0.306462173797827	0.28901	1.598094	-0.433385463551195	0.24024	1.313289	2.11855831435507E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.52	2.29	0.27658	1.548000	0.35808	4.356000	0.43103	0.549000	0.26987	0.131000	0.23362	1.000000	0.68203	0.004000	0.06068	0.0:0.8721:0.0:0.1279	10.676	0.44980	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	385.43	40	chr10	132885935	.	C	G	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.57;DP=389;ExcessHet=0;FS=4.301;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=-0.361;SOR=1.074	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	9	0	1	0
chr10	132922556	132922556	G	T	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1409A:p.T470N	.	416	1065	39	2	0	43	0.0197883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.00978435	0.0177	0.0037	0.0146	0	0	0.0107	0.0195	0.0251	0.0033311	515	154602	rs41301115	0.0105	0.0100	0.0099	0.0111	0.0279	0.0103	0.0103	0.0269	0.0266	0.0013	0.0072	0.0096	5.598e-05	0.0070	0.0101	0.0101	0.0106	0.0279	0.0079	0.0079	0.0072	0.0087	0.0296	0.0076	0.0074	0.0256	0.0241	0.0015	0	0.0092	0.0104	0	0.0090	0.0068	0.0105	0.0066	0.0296	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.752325	0.09690	N	0.860345	1	0.08975	N	.	.	.	3.04	0.08810	T	1.45	0.00785	N	0.025	0.00485	-1.0095	0.27074	T	0.027	0.11441	T	7	0.0035613477	0.00064	T	.	.	.	0.029	0.06676	.	.	.	.	0.09840789490100733	0.09771	0.124680466888	0.14042	0.364000618458	0.19967	T	0.003978	0.03393	T	-0.770917	0.00013	T	-0.859196	0.00851	T	0.00565307856650111	0.00062	T	0.393561	0.09813	T	0.03946856	0.05456	0.04422583	0.05683	0.03946856	0.05456	0.04422583	0.05683	-4.835	0.34997	T	.	.	0.065	0.02038	B	.	.	-0.983138	0.00795	0.026	0.20066372410375613	0.00705	0.03741	0.09041	N	AEFDBI	0.044977	0.07303	N	-0.843404712010184	0.12212	0.593932	-0.952104417135243	0.10874	0.5505145	0.0965582444146482	0.16256	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.28	-0.649	0.10885	-0.188000	0.09638	-1.355000	0.05637	-0.854000	0.02687	0.027000	0.20232	0.000000	0.08366	0.001000	0.02609	0.0:0.1079:0.5276:0.3645	6.353	0.20592	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	3498.43	34	chr10	132922556	.	G	T	3498.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.34;DP=650;ExcessHet=0;FS=1.351;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=19.44;ReadPosRankSum=-0.672;SOR=0.556	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2304,249,0	8	1	1	0
chr10	132922700	132922700	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon12:c.C1265T:p.T422M	.	422	1090	10	0	0	10	0.00456621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0396085375064	.	0.00219649	0.0019	0.0007	0.0031	0	0	0.0014	0.0063	0.0026	0.0005498	85	154602	rs140185143	0.0012	0.0012	0.0012	0.0013	0.0078	0.0012	0.0012	0.0059	0.0053	0.0006	0.0029	0.0030	0	0.0001	0.0078	0.0010	0.0020	0.0029	0.0011	0.0011	0.0011	0.0011	0.0033	0.0010	0.0009	0.0024	0.0021	0.0003	0	0.0031	0.0026	0.0002	0	0.0068	0.0011	0.0009	0.0033	0.077	0.34095	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.82	0.10871	T	-1.1	0.28497	N	0.127	0.12055	-0.9085	0.47037	T	0.117	0.41142	T	6	0.008535087	0.00193	T	0.039609	0.58906	D	0.048	0.13305	.	.	0.0297737177859	0.01360	0.07209480817403437	0.07146	0.441977436044	0.44176	0.400841325521	0.25186	T	0.027875	0.20317	T	-0.610348	0.00126	T	-0.647164	0.09154	T	0.00700018913881569	0.00080	T	0.792521	0.43410	T	0.021688124	0.00785	0.0491156	0.07439	0.021688124	0.00784	0.0491156	0.07439	-5.299	0.39933	T	.	.	0.096	0.15520	B	.	.	2.345217	0.30063	18.32	0.99152462879613545	0.53848	0.00391	0.01965	N	AEFDBI	0.031433	0.03361	N	-0.912366698047863	0.10552	0.5047728	-1.13015712784796	0.07129	0.3456308	0.30643274557909	0.19242	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.28	-3.1	0.04991	-0.010000	0.12681	0.354000	0.17507	-0.148000	0.12190	0.000000	0.06391	0.002000	0.18203	0.005000	0.06747	0.3834:0.1371:0.4795:0.0	6.306	0.20344	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	378.43	34	chr10	132922700	.	G	A	378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.185;DP=351;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.673;SOR=0.242	GT:AD:DP:GQ:PL	0/0:29,0:29:72:0,72,1080	9	0	1	0
chr10	132942086	132942086	T	C	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon2:c.A68G:p.K23R	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0232338860529	.	.	9.38e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs749707718	7.146e-06	6.84e-06	4.23e-06	1.014e-05	0.0001	3.61e-06	2.64e-06	4.93e-05	3.626e-05	0	0	0	0	0	0	1.854e-06	0	0.0001	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	1.0	0.03036	T	0.941	0.02685	T	.	.	.	.	.	.	0.152337	0.17926	N	0.510538	1	0.08975	N	.	.	.	-1.56	0.81815	D	0.49	0.04161	N	0.108	0.09349	-0.9190	0.45689	T	0.210	0.57054	T	9	0.019969791	0.00453	T	0.023234	0.46189	T	0.097	0.27909	0.28	0.23483	0.0297737177859	0.01360	0.04089544168568699	0.04034	0.0883708896592	0.09985	0.586183965206	0.50957	T	0.003127	0.02525	T	-0.36538	0.03835	T	-0.472477	0.25251	T	0.0135023396607505	0.00247	T	0.547645	0.18800	T	0.03206765	0.03162	0.028563662	0.01103	0.03206765	0.03161	0.028563662	0.01103	-3.293	0.16306	T	.	.	0.062	0.02091	B	.;.	.;.	0.319407	0.06938	3.486	0.57498489920134044	0.05782	0.01760	0.05534	N	AEFDBCI	0.065749	0.12840	N	-1.226391142917	0.04620	0.20891	-1.25224233789584	0.05098	0.242102	0.998881393036034	0.37891	0.685219	0.55550	0	0.588066	0.40923	0	0.674405	0.61402	0	0.71	0.69187	0	.	.	4.06	1.14	0.19817	0.943000	0.28628	0.631000	0.20228	-1.009000	0.01772	0.007000	0.17678	0.001000	0.17328	0.002000	0.04165	0.0:0.4457:0.0:0.5543	7.055	0.24272	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1173.43	34	chr10	132942086	.	T	C	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.302;DP=421;ExcessHet=0;FS=0.799;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.093;SOR=0.57	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	9	0	1	0
chr10	133186325	133186325	G	A	exonic	KNDC1	.	nonsynonymous SNV	KNDC1:NM_152643:exon6:c.G977A:p.R326H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00748584704124	0.0002	.	0.0001	0.0001	0	0	0.0002	0.0002	0	0	0.0001423	22	154602	rs368066503	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.974e-05	6.714e-05	3.829e-05	0	1.922e-05	0.0002	0.0002	0.0004	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	9.648e-05	0	6.54e-05	0	0	0	0	0.0004	0.0005	0	0.047	0.40319	D	0.305	0.20037	T	0.975	0.58310	D	0.375	0.43710	B	0.326864	0.14179	U	0.641724	1	0.08975	N	.	.	.	2.82	0.16794	T	-0.13	0.08971	N	0.02	0.01203	-1.0329	0.19522	T	0.021	0.09101	T	10	0.07575822	0.11749	T	0.007486	0.19872	T	0.056	0.15993	.	.	0.0806252709748	0.07271	0.1597115552171798	0.15892	0.22818053352	0.25372	0.409210830927	0.26348	T	0.043052	0.26379	T	-0.584874	0.00180	T	-0.719327	0.04828	T	0.0259378292245231	0.01397	T	0.475952	0.14261	T	0.025958871	0.01593	0.029709028	0.01339	0.025958871	0.01593	0.029709028	0.01338	-4.717	0.33610	T	.	.	0.075	0.08129	B	.;.	.;.	0.655600	0.10239	6.977	0.99792321552395469	0.87750	0.03145	0.08104	N	AEFDBI	0.032750	0.03759	N	-0.643444611689396	0.17651	0.9101129	-0.767057157772679	0.15303	0.8041927	0.0487429298284688	0.14780	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.15	2.21	0.27042	0.032000	0.13620	0.529000	0.19232	-0.822000	0.02949	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.2627:0.7373:0.0	8.630	0.33072	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1928.43	58	chr10	133186325	.	G	A	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.25;DP=527;ExcessHet=0;FS=1.298;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.137;SOR=0.58	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	9	0	1	0
chr10	133269966	133269966	C	A	exonic	ADAM8	.	nonsynonymous SNV	ADAM8:NM_001109:exon17:c.G1794T:p.W598C,ADAM8:NM_001164489:exon17:c.G1794T:p.W598C	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100563955244	0.0002	0.000399361	0.0005	0.0001	8.743e-05	0	0	0.0002	0.0011	0.0029	0.0004528	70	154602	rs141066065	0.0003	0.0003	0.0002	0.0004	0.0034	0.0003	0.0002	0.0030	0.0029	5.974e-05	2.236e-05	0	0	0	0.0007	8.724e-05	0.0003	0.0034	0.0002	0.0002	0.0001	0.0003	0.0029	0.0001	0.0001	0.0018	0.0014	2.404e-05	0	6.531e-05	0	0	0	0	0.0002	0	0.0029	0.03	0.45393	D	0.045	0.49390	D	0.966	0.56202	D	0.598	0.50679	P	.	.	.	.	0.867272	0.58761	D	2.39	0.68882	M	2.21	0.18414	T	-4.82	0.80851	D	0.49	0.52386	.	.	.	.	.	.	.	0.030659795	0.01193	T	0.100564	0.77293	D	.	.	.	.	0.648666119885	0.64575	0.798550339727289	0.79808	0.689296291096	0.60477	0.564293503761	0.47873	T	0.35206	0.71954	T	-0.449744	0.01133	T	-0.422481	0.30791	T	.	.	.	0.69993	0.42065	T	0.29498184	0.52451	0.30370447	0.56400	0.29498184	0.52450	0.30370447	0.56399	-8.045	0.63136	D	.	.	0.890	0.85090	P	.;.	.;.	3.724563	0.53242	23.3	0.9815044799118211	0.38680	0.41086	0.26580	N	AEFDBI	0.136931	0.25776	N	.	.	.	.	.	.	3.21913099212296E-4	0.06540	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.37	2.36	0.28258	0.215000	0.17352	3.403000	0.38141	0.531000	0.24825	0.048000	0.21332	0.992000	0.31684	0.253000	0.23340	0.0:0.5496:0.3373:0.113	5.671	0.16997	994	0.00715	ADAM, cysteine-rich;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1227.43	34	chr10	133269966	.	C	A	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.228;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=1.39;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1087	9	0	1	0
chr10	133271584	133271584	C	T	exonic	ADAM8	.	nonsynonymous SNV	ADAM8:NM_001164490:exon11:c.G1111A:p.V371M,ADAM8:NM_001109:exon12:c.G1228A:p.V410M,ADAM8:NM_001164489:exon12:c.G1228A:p.V410M	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	0.0033	0.0167	0	0	0	0.0030	0.0058	0.0003	0.0004398	68	154602	rs36054052	0.0011	0.0010	0.0011	0.0010	0.0088	0.0010	0.0010	0.0073	0.0070	0.0082	0.0033	0.0043	0	0	0.0088	0.0007	0.0027	8.757e-05	0.0034	0.0034	0.0035	0.0034	0.0084	0.0032	0.0031	0.0077	0.0074	0.0084	0	0.0040	0.0058	0	9.413e-05	0.0136	0.0010	0.0080	0.0002	0.003	0.68238	D	0.005	0.79402	D	1.0	0.90584	D	0.977	0.73820	D	.	.	.	.	0.750229	0.29645	N	2.565	0.75005	M	4.94	0.01459	T	-2.02	0.47175	N	0.249	0.32481	.	.	.	.	.	.	.	0.011975437	0.00259	T	.	.	.	.	.	.	.	0.353761421236	0.34979	0.6728477863048329	0.67222	0.385967760024	0.39890	0.598319768906	0.52667	T	0.127532	0.45461	T	-0.55403	0.00276	T	-0.562205	0.16169	T	.	.	.	0.734027	0.40183	T	0.07469815	0.16780	0.13890104	0.33159	0.07469815	0.16780	0.13890104	0.33158	-7.27	0.55982	T	.	.	0.167	0.36752	B	.;.;.	.;.;.	2.770928	0.36375	20.2	0.99739633483342915	0.83409	0.30639	0.24134	N	AEFBI	0.291760	0.40281	N	.	.	.	.	.	.	0.0138497831473009	0.12518	0.631515	0.41029	0	0.697927	0.68747	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.64	2.69	0.30923	0.327000	0.19408	1.381000	0.26035	-0.199000	0.08999	0.000000	0.06391	0.764000	0.26647	0.255000	0.23391	0.0:0.6334:0.1655:0.201	5.246	0.14813	994	0.00715	Disintegrin domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011954	0.037234	0.009777	0.015152	0.100000	0.000000	0.000000	0.003846	0.05	929.43	33	chr10	133271584	.	C	T	929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.129;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.144;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,926	9	0	1	0
chr10	133281388	133281388	C	T	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon16:c.G2068A:p.A690T,TUBGCP2:NM_006659:exon17:c.G2458A:p.A820T,TUBGCP2:NM_001256617:exon18:c.G2542A:p.A848T	.	.	.	.	.	.	.	.	.	.	.	4090407	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.00524208209375	.	0.000199681	8.283e-06	0	0	0	0	1.511e-05	0	0	1.29e-05	2	154602	rs538460913	2.053e-06	2.736e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0.0002	0	1.656e-05	0	1.97e-05	1.968e-05	0	4.028e-05	0.0002	5.24e-06	2.45e-06	5.281e-05	2.834e-05	0	0	0.0002	0	0	0	0	0	0	0	0.469	0.15984	T	0.563	0.09522	T	0.079	0.24468	B	0.045	0.24526	B	0.015179	0.28322	N	0.355044	0.999417	0.46970	D	2.175	0.60977	M	2.47	0.31731	T	-0.46	0.14978	N	0.527	0.57006	-1.1041	0.03630	T	0.064	0.26456	T	10	0.15789402	0.29704	T	0.005242	0.13371	T	0.044	0.11924	0.356	0.35734	0.344710718752	0.34073	0.19199733238537203	0.19117	0.348401072875	0.36710	0.553643286228	0.46372	T	0.089648	0.38417	T	-0.157116	0.27205	T	-0.380597	0.35652	T	0.455874800682068	0.31013	T	0.860614	0.55382	D	0.06074138	0.12500	0.068345085	0.14260	0.06074138	0.12500	0.068345085	0.14260	0.204	0.00284	T	.	.	0.073	0.07365	B	.;.;.;.;.	.;.;.;.;.	3.158252	0.42778	21.6	0.98091940905090391	0.38197	0.97262	0.73654	D	AEFDGBI	0.658647	0.62984	D	0.0138739638681457	0.42485	2.560759	0.158672437480364	0.47602	2.988102	0.999999998886592	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.64	4.64	0.57399	5.762000	0.68459	7.518000	0.59719	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.936000	0.47498	0.1755:0.8244:0.0:0.0	11.811	0.51456	993	0.01300	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1493.43	39	chr10	133281388	.	C	T	1493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.89;DP=436;ExcessHet=0;FS=4.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.226;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1092	9	0	1	0
chr10	133285549	133285549	G	A	exonic	TUBGCP2	.	nonsynonymous SNV	TUBGCP2:NM_001256618:exon11:c.C1412T:p.A471V,TUBGCP2:NM_006659:exon12:c.C1802T:p.A601V,TUBGCP2:NM_001256617:exon13:c.C1886T:p.A629V	.	.	.	.	.	.	.	.	.	.	.	2806326	TUBGCP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	0.00488816747836	0.0015	0.000599042	0.0013	0.0002	0.0016	0	0.0004	0.0019	0.0027	0	0.0011707	181	154602	rs151132456	0.0015	0.0015	0.0015	0.0015	0.0020	0.0014	0.0014	0.0017	0.0017	0.0004	0.0013	0.0011	2.55e-05	0.0002	0.0020	0.0018	0.0012	0.0001	0.0011	0.0011	0.0012	0.0011	0.0020	0.0010	0.0009	0.0017	0.0016	0.0003	0	0.0009	0.0009	0.0002	0	0	0.0020	0.0019	0.0002	0.288	0.15098	T	0.58	0.08505	T	0.0	0.02946	B	0.002	0.06944	B	0.005351	0.32875	N	0.317642	0.847189	0.28548	N	0.77	0.19370	N	3.16	0.07711	T	-0.54	0.16598	N	0.148	0.16725	-1.0331	0.19459	T	0.017	0.06902	T	10	0.0070544183	0.00160	T	0.004888	0.12286	T	0.093	0.26882	.	.	0.350746614512	0.34690	0.1273686833401027	0.12662	0.283872200585	0.30823	0.384883344173	0.22947	T	0.061442	0.31654	T	-0.588928	0.00170	T	-0.624278	0.10853	T	0.0345132128438498	0.02725	T	0.817118	0.47476	T	0.019753672	0.00512	0.027829662	0.00966	0.019753672	0.00512	0.027829662	0.00966	-3.807	0.21988	T	.	.	0.064	0.02670	B	.;.;.;.;.	.;.;.;.;.	2.050683	0.26070	16.99	0.38200669053738129	0.02562	0.81415	0.40823	D	AEFGBI	0.103555	0.20744	N	-0.190125555571483	0.33543	1.904297	-0.0603988487977531	0.37045	2.163705	0.942386082329209	0.27520	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	4.62	0.56946	7.174000	0.77176	4.162000	0.42217	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	0.7657:0.0:0.2343:0.0	4.193	0.09888	993	0.01300	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1689.43	35	chr10	133285549	.	G	A	1689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.459;DP=463;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	9	0	1	0
chr11	230474	230474	G	T	exonic	SIRT3	.	nonsynonymous SNV	SIRT3:NM_001370312:exon3:c.C593A:p.P198H,SIRT3:NM_001017524:exon4:c.C359A:p.P120H,SIRT3:NM_001370310:exon4:c.C785A:p.P262H,SIRT3:NM_001370314:exon4:c.C785A:p.P262H,SIRT3:NM_001370315:exon4:c.C542A:p.P181H,SIRT3:NM_001370318:exon4:c.C359A:p.P120H,SIRT3:NM_001370319:exon4:c.C359A:p.P120H,SIRT3:NM_001370320:exon4:c.C359A:p.P120H,SIRT3:NM_001370321:exon4:c.C359A:p.P120H,SIRT3:NM_001370322:exon4:c.C359A:p.P120H,SIRT3:NM_001370323:exon4:c.C359A:p.P120H,SIRT3:NM_001370324:exon4:c.C359A:p.P120H,SIRT3:NM_001370325:exon4:c.C359A:p.P120H,SIRT3:NM_012239:exon4:c.C785A:p.P262H	.	420	1092	9	1	0	11	0.00501139	.	.	.	712769	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0105	0.0091853	0.0061	0.0240	0.0071	0	0.0002	0.0051	0.0107	0.0022	0.0059702	923	154602	rs61748606	0.0055	0.0055	0.0056	0.0055	0.0205	0.0054	0.0054	0.0192	0.0186	0.0205	0.0081	0.0012	0	0.0005	0.0167	0.0056	0.0071	0.0019	0.0098	0.0098	0.0103	0.0094	0.0230	0.0094	0.0093	0.0218	0.0213	0.0230	0	0.0082	0.0012	0	0.0002	0.0102	0.0055	0.0118	0.0023	0.022	0.61437	D	0.064	0.56192	T	0.979	0.59044	D	0.736	0.60045	P	0.064507	0.02178	N	1.908390	1	0.08975	N	1.12	0.28775	L	1.0	0.41392	T	-2.05	0.54546	N	0.209	0.29659	-1.0071	0.27819	T	0.109	0.39462	T	10	0.0055104196	0.00122	T	.	.	.	0.161	0.41658	.	.	0.497741790239	0.49410	0.46620834644221054	0.46539	0.304552870567	0.32758	0.236016750336	0.02443	T	0.116518	0.43592	T	-0.43035	0.01475	T	-0.37202	0.36652	T	0.0303873094741516	0.02049	T	0.841716	0.54988	T	0.17512874	0.38354	0.15006863	0.35407	0.17512874	0.38354	0.15006863	0.35406	-5.407	0.40987	T	.	.	0.098	0.20352	B	.;.;.;.;.	.;.;.;.;.	3.278097	0.44906	22.0	0.99035522111742103	0.50895	0.13440	0.17857	N	AEFBI	0.123716	0.23945	N	-0.154555400701323	0.35041	2.007767	-0.323520100368941	0.27341	1.516446	0.67757721930716	0.22442	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.31	2.06	0.25932	1.695000	0.37381	4.667000	0.44262	0.676000	0.76740	0.105000	0.22895	0.945000	0.28875	0.316000	0.24877	0.0:0.1215:0.5023:0.3762	9.247	0.36695	774	0.48577	Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;Sirtuin family, catalytic core domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.018630	0.040404	0.023098	0.017544	0.000000	0.008621	0.006098	0.007576	0.05	1987.43	51	chr11	230474	.	G	T	1987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.702;DP=512;ExcessHet=0;FS=1.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=1.47;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	9	0	1	0
chr11	308267	308267	G	C	exonic	IFITM2	.	nonsynonymous SNV	IFITM2:NM_006435:exon1:c.G75C:p.E25D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0188847868063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.33254	T	0.118	0.36233	T	0.108	0.26116	B	0.109	0.31370	B	0.872675	0.08814	U	0.920283	1	0.08975	N	1.895	0.50365	L	-1.43	0.80730	T	-2.6	0.57110	D	0.15	0.20660	-0.6790	0.61419	T	0.360	0.72193	T	10	0.071273714	0.10482	T	0.018885	0.41097	T	0.082	0.23913	0.376	0.38994	0.440288351245	0.43647	0.2558530408082848	0.25499	0.300255646818	0.32383	0.381394267082	0.22455	T	0.026652	0.36845	T	-0.12688	0.32003	T	-0.420031	0.31073	T	0.23234649002552	0.22063	T	0.607039	0.22875	T	0.0935783	0.21981	0.08757858	0.20366	0.0935783	0.21981	0.08757858	0.20365	-4.318	0.28428	T	.	.	0.138	0.30022	B	.;.;.;.	.;.;.;.	0.367461	0.07401	4.025	0.9499493894408757	0.25950	0.36854	0.25629	N	ALL	0.444136	0.50115	N	-1.13907668690617	0.05962	0.2731987	-1.26894648263576	0.04856	0.2300885	0.999999999991353	0.74766	0.545045	0.22601	0	0.52208	0.09955	0	0.601644	0.32324	0	0.56214	0.19341	0	.	.	2.07	0.104	0.13836	-1.140000	0.03321	-2.314000	0.03912	-0.211000	0.08354	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3557:0.0:0.6443:0.0	4.483	0.11188	958	0.09170	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1430.43	33	chr11	308267	.	G	C	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.124;DP=550;ExcessHet=0;FS=6.27;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.22;MQRankSum=-0.698;QD=13.24;ReadPosRankSum=1.28;SOR=1.352	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1442,0,1174	9	0	1	0
chr11	320654	320654	C	T	exonic	IFITM3	.	nonsynonymous SNV	IFITM3:NM_021034:exon1:c.G160A:p.V54M	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	8e-05	0.00199681	0.0005	0	0	0.0002	0	2.999e-05	0	0.0038	0.0004916	76	154602	rs371741630	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0039	0.0037	2.988e-05	4.473e-05	0	2.519e-05	0	0.0002	1.889e-05	0.0004	0.0042	0.0002	0.0002	5.142e-05	0.0003	0.0048	0.0001	0.0001	0.0033	0.0028	2.407e-05	0	0	0	0.0002	0	0	0	0.0005	0.0048	0.132	0.27426	T	0.14	0.33554	T	0.965	0.56013	D	0.56	0.49558	P	0.299745	0.14619	U	0.510663	1	0.08975	N	2	0.54354	M	-2.21	0.86963	D	-2.27	0.50666	N	0.276	0.31253	-0.4208	0.71366	T	0.513	0.81738	D	10	0.009066105	0.00205	T	.	.	.	0.228	0.52768	.	.	0.795337927208	0.79343	0.4469708034514509	0.44615	0.850721912871	0.68518	0.468272745609	0.34443	T	0.041238	0.25791	T	-0.355588	0.04386	T	-0.283698	0.46423	T	0.0667627902541215	0.08189	T	0.683132	0.33029	T	0.03931121	0.05404	0.056374636	0.10060	0.03931121	0.05404	0.056374636	0.10059	-7.977	0.60913	D	.	.	0.189	0.40634	B	.;.;.	.;.;.	1.926768	0.24471	16.41	0.99651593308903363	0.77317	0.28662	0.23615	N	AEFDGBHCI	0.347751	0.44212	N	-0.313580967084405	0.28631	1.580844	-0.456851136347488	0.23354	1.273176	0.999999969230419	0.74766	0.733237	0.96898	0	0.698795	0.70079	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.65	1.59	0.22622	-0.200000	0.09480	-5.122000	0.01840	-0.236000	0.07595	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6221:0.1773:0.2006	4.787	0.12600	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000535	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1009.43	35	chr11	320654	.	C	T	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.229;DP=609;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.4;MQRankSum=4.46;QD=6.47;ReadPosRankSum=-1.663;SOR=0.64	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,100,1800	9	0	1	0
chr11	396835	396835	C	T	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon3:c.C334T:p.P112S,PKP3:NM_001303029:exon4:c.C379T:p.P127S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.115143425303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.93e-07	1.163e-05	1.378e-06	0	.	0	0	.	.	0	0	0	0	2.249e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.576	0.38407	T	0.06	0.45744	T	0.012	0.16265	B	0.007	0.12992	B	0.738486	0.09796	N	0.873235	0.913669	0.27452	N	0.805	0.20218	L	-1.38	0.80301	T	-1.11	0.85103	N	0.246	0.27792	-0.8725	0.50341	T	0.251	0.62027	T	10	0.097247064	0.17502	T	0.115143	0.79423	D	0.282	0.59981	0.25	0.18757	0.67947023701	0.67674	0.4188451731684173	0.41800	0.0920449276398	0.10393	0.481002628803	0.36194	T	0.032416	0.31471	T	0.022197	0.54678	T	-0.205892	0.54087	T	0.0693194053149251	0.08556	T	0.80032	0.44603	T	0.063576676	0.13400	0.06354915	0.12606	0.063576676	0.13400	0.06354915	0.12605	-3.17	0.12117	T	.	.	0.193	0.47535	B	.;.;.	.;.;.	1.779530	0.22627	15.70	0.9977808478952338	0.86519	0.58001	0.30525	D	AEFDGBCI	0.224581	0.34879	N	-0.621273732691716	0.18306	0.9493382	-0.504095542291262	0.22041	1.195257	0.999999695323084	0.74766	0.695654	0.57023	0	0.478664	0.06816	1	0.723109	0.80598	0	0.554799	0.18163	0	.	.	3.56	3.56	0.39892	0.425000	0.21065	3.908000	0.40392	0.594000	0.32500	0.029000	0.20367	1.000000	0.68203	0.006000	0.07323	0.2319:0.7681:0.0:0.0	8.480	0.32201	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	598.43	52	chr11	396835	.	C	T	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.407;DP=538;ExcessHet=0;FS=1.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-0.161;SOR=0.963	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1222	9	0	1	0
chr11	403658	403658	G	C	exonic	PKP3	.	nonsynonymous SNV	PKP3:NM_007183:exon10:c.G1964C:p.R655P,PKP3:NM_001303029:exon11:c.G2009C:p.R670P	.	.	.	.	.	.	.	.	.	.	.	2226793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.442	0.234823050066	0.0012	0.000199681	0.0007	0.0003	8.74e-05	0	0.0014	0.0011	0	6.066e-05	0.0006921	107	154602	rs147657735	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	0.0004	0.0004	0	0	0.0007	0.0002	0.0017	0.0014	3.478e-05	0.0009	0.0009	0.0011	0.0008	0.0015	0.0008	0.0008	0.0013	0.0012	0.0003	0	0.0012	0	0	0.0002	0.0034	0.0015	0.0019	0	0.017	0.51248	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000102	0.50451	D	0.088251	0.999996	0.58761	D	1.83	0.48079	L	0.82	0.48142	T	-3.41	0.67129	D	0.758	0.75650	-0.4254	0.71216	T	0.282	0.65428	T	10	0.45453444	0.58907	T	0.234823	0.88427	D	0.442	0.74518	.	.	0.719764416955	0.71729	0.849706703130897	0.84932	0.488356790436	0.47638	0.740916252136	0.73109	T	0.600057	0.87168	D	-0.23596	0.15868	T	-0.147095	0.59500	T	0.134772643446922	0.15816	T	0.926307	0.72903	D	0.76697844	0.81867	0.6506326	0.79559	0.76697844	0.81869	0.6506326	0.79560	-10.313	0.75764	D	.	.	0.982	0.91448	P	.	.	5.840032	0.93776	33	0.99680214468223149	0.79174	0.99320	0.94451	D	AEFBI	0.981503	0.99876	D	0.57138288761622	0.71394	5.644104	0.482751126166689	0.66846	5.005693	0.999750246963523	0.42595	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	3.85	3.85	0.43556	6.173000	0.71852	11.414000	0.92699	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.0:1.0:0.0	16.335	0.82888	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1843.43	42	chr11	403658	.	G	C	1843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.602;DP=488;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.211;SOR=0.558	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	9	0	1	0
chr11	433904	433904	C	T	exonic	ANO9	.	nonsynonymous SNV	ANO9:NM_001012302:exon3:c.G115A:p.V39M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.726699431834	0.0006	0.00119808	0.0020	0	0.0059	0	0	0.0031	0	0.0015	0.0006468	100	154602	rs137970750	0.0007	0.0007	0.0007	0.0007	0.0095	0.0007	0.0007	0.0075	0.0067	9.139e-05	0.0014	0.0094	0	0	0.0095	0.0005	0.0015	0.0010	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0005	0.0007	0.0005	9.619e-05	0	0.0010	0.0095	0	0	0.0136	0.0006	0.0005	0.0010	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.737768	0.29765	N	2.885	0.83555	M	-0.69	0.72678	T	-1.59	0.38345	N	0.193	0.21188	-0.4446	0.70578	T	0.313	0.68326	T	9	0.014223188	0.00299	T	0.726699	0.97796	D	0.317	0.63904	.	.	0.503124787307	0.49949	0.6871554504391073	0.68655	0.838528719588	0.67923	0.423726081848	0.28349	T	0.275166	0.64769	T	-0.260558	0.12834	T	-0.192601	0.55347	T	0.367361277341843	0.27695	T	0.834017	0.50309	T	0.050295133	0.09065	0.14454213	0.34313	0.050295133	0.09065	0.14454213	0.34312	-9.709	0.72151	D	.	.	0.643	0.70621	P	.	.	4.430404	0.68699	25.3	0.9985111188440321	0.93013	0.83443	0.42560	D	AEFDBI	0.189703	0.31695	N	0.196681000321814	0.51039	3.288	0.0891082290141585	0.43999	2.690234	0.977733057408551	0.29850	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.13	3.13	0.35090	1.967000	0.40115	7.279000	0.58016	0.532000	0.24858	0.922000	0.32020	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	12.583	0.55754	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014918	0.005319	0.015235	0.023529	0.055556	0.043103	0.003125	0.003846	0.05	584.43	61	chr11	433904	.	C	T	584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.442;DP=493;ExcessHet=0;FS=2.188;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.443;SOR=0.713	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	9	0	1	0
chr11	540740	540740	G	A	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon4:c.G56A:p.R19Q	.	422	1087	11	2	0	15	0.00685244	.	.	.	1548654	not_provided|LRRC56-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.011	0.00309820486243	0.0038	0.00439297	0.0025	0.0095	0.0029	0	0	0.0022	0.0026	0.0015	0.0022639	350	154602	rs144525570	0.0016	0.0016	0.0015	0.0016	0.0210	0.0015	0.0015	0.0179	0.0168	0.0097	0.0027	0.0007	2.52e-05	9.584e-05	0.0210	0.0013	0.0033	0.0011	0.0037	0.0036	0.0038	0.0035	0.0088	0.0034	0.0033	0.0081	0.0078	0.0088	0	0.0037	0.0009	0	0	0.0170	0.0015	0.0043	0.0033	0.349	0.12345	T	0.275	0.22016	T	0.018	0.17786	B	0.003	0.08700	B	0.954772	0.08263	N	0.976842	1	0.08975	N	0.515	0.13537	N	2.85	0.10578	T	-0.76	0.21215	N	0.05	0.02179	-0.9639	0.38428	T	0.010	0.03537	T	10	0.004208058	0.00084	T	0.003098	0.06726	T	0.011	0.01250	.	.	0.130388298395	0.12655	0.3675473950119055	0.36668	.	.	0.330809742212	0.15057	T	0.002713	0.02105	T	-0.733651	0.00023	T	-0.820783	0.01436	T	0.00333462895417693	0.00035	T	0.60444	0.22695	T	0.036576673	0.04525	0.036482133	0.03104	0.036576673	0.04525	0.036482133	0.03104	-3.885	0.22077	T	0.10907979318312648	0.09068	0.071	0.03887	B	.	.	-0.679974	0.01368	0.078	0.88345943016220319	0.17904	0.00723	0.03043	N	AEFDBI	0.029879	0.02902	N	-1.47638766735075	0.02018	0.0886564	-1.53266931245058	0.02097	0.09595504	0.999998525149659	0.74766	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.88	-5.16	0.02640	-2.919000	0.00761	-1.826000	0.04656	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.235000	0.22869	0.5069:0.0:0.264:0.2291	5.482	0.16024	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020182	0.020408	0.021739	0.029412	0.000000	0.025862	0.021472	0.007576	0.05	562.43	39	chr11	540740	.	G	A	562.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.379;DP=407;ExcessHet=0;FS=1.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.3;ReadPosRankSum=0.857;SOR=0.622	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1083	9	0	1	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.15	5988.45	159	chr11	551741	.	C	T	5988.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.556;DP=603;ExcessHet=0.7463;FS=0.384;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=0.096;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,38:82:99:0|1:551741_C_T:1387,0,1668:551741	7	0	3	0
chr11	557577	557577	C	T	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon6:c.G619A:p.G207R	.	420	1070	32	0	0	32	0.014733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0064	0.00459265	0.0081	0.0012	0.0082	0	0.0092	0.0093	0.0157	0.0113	0.0073156	1131	154602	rs146558617	0.0073	0.0073	0.0071	0.0075	0.0128	0.0072	0.0071	0.0105	0.0099	0.0010	0.0083	0.0223	5.038e-05	0.0098	0.0128	0.0069	0.0088	0.0107	0.0064	0.0064	0.0064	0.0064	0.0099	0.0061	0.0060	0.0077	0.0072	0.0013	0.0351	0.0084	0.0233	0.0002	0.0064	0.0136	0.0080	0.0114	0.0099	0.002	0.72154	D	0.015	0.63109	D	0.946	0.53363	P	0.161	0.34794	B	0.018548	0.27457	N	0.173210	0.999998	0.08975	N	.	.	.	1.41	0.33412	T	-2.3	0.85176	N	0.121	0.11197	-1.0076	0.27665	T	0.022	0.09467	T	10	0.005467713	0.00121	T	.	.	.	0.091	0.26358	0.354	0.35408	0.225902525712	0.22197	0.06019222766670781	0.05959	0.275229983008	0.30008	.	.	.	0.080284	0.49475	T	-0.43361	0.01410	T	-0.387665	0.34825	T	0.0278891819996309	0.01672	T	0.563244	0.22338	T	0.2105108	0.43349	0.13528605	0.32396	0.2105108	0.43349	0.13528605	0.32395	-5.67	0.43426	T	.	.	0.172	0.43032	B	.;.;.	.;.;.	1.168851	0.15586	11.96	0.99682241622075607	0.79307	0.05612	0.11518	N	AEFDBHCI	0.070202	0.13927	N	-0.629860665608247	0.18051	0.9340888	-0.759994477755599	0.15477	0.8141813	0.999999484550485	0.74766	0.676563	0.55306	0	0.958517	0.99986	0	0.493711	0.08198	1	0.620976	0.48614	0	.	.	3.2	0.175	0.14330	-4.228000	0.00307	-1.193000	0.06063	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.130000	0.19568	0.0:0.4803:0.2574:0.2623	3.435	0.07012	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010585	0.005051	0.008174	0.014620	0.050000	0.008621	0.015244	0.011450	0.05	1702.43	41	chr11	557577	.	C	T	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=473;ExcessHet=0;FS=1.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.948;SOR=0.85	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,114,1361	9	0	1	0
chr11	601579	601579	C	T	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon10:c.C1030T:p.R344W,PHRF1:NM_001286582:exon10:c.C1027T:p.R343W,PHRF1:NM_001286583:exon10:c.C1018T:p.R340W,PHRF1:NM_020901:exon10:c.C1030T:p.R344W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.519201718655	.	.	2.502e-05	0	0	0	0	3.024e-05	0	6.075e-05	1.94e-05	3	154602	rs764662939	5.474e-06	5.472e-06	1.362e-06	9.629e-06	4.638e-05	2.36e-06	1.7e-06	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	3.313e-05	4.638e-05	6.575e-06	6.568e-06	0	1.346e-05	6.548e-05	0	0	.	.	0	0	6.548e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.92359	D	0.003676	0.34636	N	0.000000	0.998572	0.45107	D	1.935	0.51832	L	-3.09	0.92613	D	-6.18	0.90568	D	0.512	0.58798	0.696	0.93127	D	0.812	0.93657	D	10	0.6952257	0.72101	D	0.519202	0.95420	D	0.537	0.80605	0.276	0.22845	0.614728689734	0.61161	0.4975781157110069	0.49678	0.482400438877	0.47204	0.365174174309	0.20137	T	0.444809	0.78807	T	0.0817771	0.62248	D	-0.0196793	0.69049	D	0.963478565216064	0.66670	D	0.962204	0.86214	D	0.4949967	0.66800	0.40137866	0.64649	0.4949967	0.66801	0.40137866	0.64649	-8.34	0.63578	D	.	.	0.204	0.43352	B	.;.;.;.	.;.;.;.	5.155676	0.86370	28.9	0.99915069614012164	0.98309	0.83418	0.42536	D	AEFGBI	0.425588	0.49029	N	0.424561568784141	0.62776	4.499211	0.328338488430032	0.57210	3.886067	0.778971797515031	0.23805	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.61	3.62	0.40616	1.545000	0.35775	3.981000	0.40905	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.455000	0.28006	0.2806:0.7193:0.0:0.0	9.250	0.36712	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	893.43	37	chr11	601579	.	C	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=-1.009;SOR=0.697	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1086	9	0	1	0
chr11	608063	608063	G	T	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon14:c.G2607T:p.K869N,PHRF1:NM_001286582:exon14:c.G2601T:p.K867N,PHRF1:NM_001286583:exon14:c.G2595T:p.K865N,PHRF1:NM_020901:exon14:c.G2604T:p.K868N	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0192345268029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.736e-06	1.364e-06	1.377e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.108	0.44702	T	0.993	0.68779	D	0.738	0.61580	P	0.000549	0.43413	D	0.000000	0.999999	0.08975	N	2.135	0.59519	M	2.03	0.20959	T	-2.98	0.62518	D	0.363	0.40465	-1.0472	0.15188	T	0.070	0.28478	T	10	0.24281406	0.41484	T	0.019235	0.41549	T	0.086	0.25016	0.251	0.18912	0.134007934775	0.12933	0.42367514316987126	0.42284	0.505791430487	0.48811	0.376532018185	0.21764	T	0.041412	0.25850	T	-0.223607	0.17504	T	-0.558973	0.16473	T	0.861770510673523	0.51212	D	0.825817	0.48860	T	0.43115726	0.62828	0.35286185	0.60857	0.43115726	0.62828	0.35286185	0.60856	-4.053	0.24594	T	.	.	0.424	0.60878	A	.;.;.;.	.;.;.;.	2.865898	0.37883	20.6	0.99650686914732345	0.77254	0.76873	0.37738	D	AEFBCI	0.308895	0.41535	N	0.209394458150446	0.51653	3.34498	0.110615595407588	0.45090	2.778475	0.999251964007689	0.38906	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.98	4.0	0.45673	2.506000	0.45093	5.010000	0.46663	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.012000	0.09680	0.2125:0.2321:0.5554:0.0	3.624	0.07648	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3503.43	258	chr11	608063	.	G	T	3503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.795;DP=597;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.729;SOR=0.669	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1552	9	0	1	0
chr11	608262	608262	T	C	exonic	PHRF1	.	nonsynonymous SNV	PHRF1:NM_001286581:exon14:c.T2806C:p.S936P,PHRF1:NM_001286582:exon14:c.T2800C:p.S934P,PHRF1:NM_001286583:exon14:c.T2794C:p.S932P,PHRF1:NM_020901:exon14:c.T2803C:p.S935P	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.062330573955	.	0.000399361	0.0006	0	0.0001	0	0	0	0	0.0036	0.0003946	61	154602	rs539237004	0.0002	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0036	0.0035	0	0	0	0	0	0.0004	8.997e-06	9.955e-05	0.0040	0.0001	0.0001	7.729e-05	0.0001	0.0027	7.107e-05	5.76e-05	0.0016	0.0013	4.835e-05	0	0	0	0	0	0	2.944e-05	0	0.0027	0.159	0.23905	T	0.113	0.36901	T	0.005	0.15093	B	0.007	0.17743	B	0.830089	0.09113	N	0.894418	1	0.08975	N	1.75	0.45442	L	-1.46	0.80983	T	-1.78	0.44471	N	0.266	0.31027	-0.9092	0.46952	T	0.248	0.61727	T	10	0.0053681433	0.00118	T	0.062331	0.68619	D	0.170	0.43303	0.164	0.06842	0.373944490328	0.37009	0.1843004671162432	0.18349	0.122217187463	0.13767	0.401087522507	0.25220	T	0.027115	0.19926	T	-0.383958	0.02940	T	-0.327042	0.41798	T	0.020051579920887	0.00706	T	0.613539	0.23382	T	0.09582257	0.22558	0.11761196	0.28392	0.09582257	0.22558	0.11761196	0.28391	-2.976	0.09946	T	.	.	0.099	0.18331	B	.;.;.;.	.;.;.;.	0.666649	0.10352	7.079	0.81418952270394851	0.13676	0.16579	0.19454	N	AEFBCI	0.173299	0.30037	N	-1.28319490806138	0.03877	0.1740143	-1.31664579809629	0.04214	0.1983338	0.988648148968894	0.31583	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.89	-0.122	0.12871	0.466000	0.21731	0.205000	0.15895	-0.147000	0.12262	0.013000	0.18845	0.002000	0.18203	0.000000	0.00833	0.0:0.1865:0.1663:0.6472	4.458	0.11075	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1073.43	46	chr11	608262	.	T	C	1073.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.567;DP=421;ExcessHet=0;FS=4.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=0.569;SOR=0.839	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1552	9	0	1	0
chr11	613470	613470	C	T	exonic	IRF7	.	nonsynonymous SNV	IRF7:NM_004029:exon8:c.G886A:p.D296N,IRF7:NM_004031:exon8:c.G1012A:p.D338N,IRF7:NM_001572:exon9:c.G973A:p.D325N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0154642245647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.49613	D	0.184	0.37730	T	0.425	0.45171	B	0.233	0.38470	B	0.373659	0.04377	N	1.565040	1	0.08975	N	0.295	0.10161	N	1.0	0.41392	T	-1.06	0.29933	N	0.107	0.10340	-1.0492	0.14621	T	0.051	0.21611	T	10	0.10546523	0.19496	T	0.015464	0.36203	T	0.057	0.16321	0.315	0.29096	0.499154427049	0.49551	0.24527082708530024	0.24441	0.156186113274	0.17630	0.344814538956	0.17155	T	0.437957	0.78379	T	-0.347663	0.04875	T	-0.737171	0.04010	T	0.107886155372898	0.13202	T	0.877512	0.59164	D	0.10419964	0.24632	0.03765046	0.03462	0.10419964	0.24631	0.03765046	0.03462	-5.036	0.37939	T	.	.	0.104	0.30103	B	.;.;.;.;.;.	.;.;.;.;.;.	2.253097	0.28784	17.91	0.98674358682123442	0.44525	0.35890	0.25406	N	ALL	0.104671	0.20936	N	-0.906378797341769	0.10691	0.5121756	-0.918258346013541	0.11664	0.5955826	0.999999919777658	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.662433	0.64102	0	.	.	4.05	3.11	0.34883	-0.582000	0.05907	2.254000	0.31710	0.524000	0.24156	0.000000	0.06391	0.013000	0.20296	0.004000	0.06068	0.0:0.729:0.1772:0.0938	7.046	0.24223	923	0.18507	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;.;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1320.43	39	chr11	613470	.	C	T	1320.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.505;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-1.395;SOR=0.726	GT:AD:DP:GQ:PL	0/1:53,56:109:99:1332,0,1254	9	0	1	0
chr11	639463	639463	C	T	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon2:c.C316T:p.R106C	Autonomic nervous system dysfunction (3)	342	1179	1	0	0	1	0.000423908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0448279086861	.	.	0.0005	0	0.0001	0	0	0	0	0.0031	0.0002523	39	154602	rs749432757	0.0002	0.0002	7.558e-05	0.0003	0.0027	0.0001	0.0001	0.0024	0.0023	0	0	0	0	0	0.0005	5.402e-06	6.656e-05	0.0027	7.88e-05	7.874e-05	5.14e-05	0.0001	0.0019	4.494e-05	3.51e-05	0.0010	0.0007	0	0	0	0	0	0	0	4.412e-05	0	0.0019	0.023	0.48186	D	0.171	0.30339	T	.	.	.	.	.	.	0.537867	0.05296	N	1.299720	0.741106	0.29733	N	.	.	.	-0.63	0.72011	T	0.02	0.06739	N	0.354	0.39558	-0.6483	0.62788	T	0.316	0.68540	T	9	0.022238791	0.00550	T	0.044828	0.61680	D	0.239	0.54358	0.596	0.72617	0.85677975047	0.85539	0.5346367544007338	0.53388	0.382555242922	0.39587	0.602393746376	0.53242	T	.	.	.	-0.39397	0.02535	T	-0.344545	0.39829	T	0.123205667834295	0.14740	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.44069	B	.	.	2.174672	0.27714	17.56	0.98806307278030314	0.46541	0.11855	0.16905	N	AEFDBHCI	0.210030	0.33596	N	-0.388316681218394	0.25885	1.408474	-0.483166840003081	0.22617	1.229333	0.999974064193372	0.50053	0.733237	0.96898	0	0.550933	0.16991	0	0.600757	0.32118	0	0.63947	0.58350	0	.	.	3.22	1.24	0.20416	0.436000	0.21244	-0.526000	0.08662	-0.366000	0.05473	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.0:0.3401:0.6599:0.0	10.936	0.46455	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001020	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003846	0.05	1196.43	41	chr11	639463	.	C	T	1196.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.878;DP=488;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.533;SOR=0.646	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,114,1710	9	0	1	0
chr11	640059	640072	CCGGGGTCCCTGCG	-	exonic	DRD4	.	frameshift deletion	DRD4:NM_000797:exon3:c.810_823del:p.R271Pfs*174	Autonomic nervous system dysfunction (3)	2	216	1	0	7	8	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305910324	0.0003	0.0002	0.0002	0.0003	0.0069	0.0002	0.0002	0.0061	0.0058	0	0.0001	0	0	0	0.0011	3.743e-05	0.0005	0.0069	0.0002	0.0002	0.0001	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0	0	0.0002	0	0	0	0	1.668e-05	0	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	250.04	27	chr11	640058	.	CCCGGGGTCCCTGCG	C	250.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.32;DP=214;ExcessHet=0;FS=1.958;InbreedingCoeff=0.2591;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=0.543;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:48:.:.:0,48,502:.	8	0	1	1
chr11	640073	640073	G	A	exonic	DRD4	.	nonsynonymous SNV	DRD4:NM_000797:exon3:c.G824A:p.G275D	Autonomic nervous system dysfunction (3)	2	214	1	0	9	10	0.002331	.	.	.	2348564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.072473956737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289570744	0.0003	0.0002	0.0002	0.0003	0.0049	0.0002	0.0002	0.0044	0.0041	0	0.0001	0	0	0	0.0010	3.931e-05	0.0005	0.0049	0.0003	0.0003	0.0001	0.0004	0.0072	0.0002	0.0002	0.0052	0.0045	0	0	0.0002	0	0	0	0	1.833e-05	0	0.0072	0.587	0.05862	T	0.523	0.10354	T	.	.	.	.	.	.	0.000000	0.00162	N	268.626000	1	0.08975	N	.	.	.	-0.3	0.67874	T	0.07	0.06138	N	0.127	0.12055	-1.0406	0.17132	T	0.118	0.41451	T	9	0.007906437	0.00179	T	0.072474	0.71540	D	0.073	0.21317	0.247	0.18293	0.276065633971	0.27208	0.39388427808643106	0.39303	0.366662604829	0.38238	0.62145280838	0.55934	T	.	.	.	-0.195732	0.21422	T	-0.518932	0.20403	T	0.150052726268768	0.17108	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11269	B	.	.	0.131274	0.05267	1.767	0.90051406117481236	0.19337	0.01359	0.04652	N	AEFBI	0.030189	0.02993	N	-1.2463976692553	0.04347	0.1960328	-1.36564016494361	0.03625	0.1694684	0.999794576436463	0.43153	0.59774	0.34471	0	0.514364	0.08380	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	2.22	-1.29	0.08805	-1.818000	0.01811	-1.589000	0.05109	0.467000	0.21759	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2642:0.0:0.3244:0.4115	2.432	0.04200	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	250.08	27	chr11	640073	.	G	A	250.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.598;DP=200;ExcessHet=0;FS=1.958;InbreedingCoeff=0.259;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=2.54;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:12,0:12:36:.:.:0,36,340:.	8	0	1	1
chr11	801512	801512	C	T	exonic	PIDD1	.	nonsynonymous SNV	PIDD1:NM_145886:exon8:c.G1415A:p.G472D,PIDD1:NM_145887:exon8:c.G1415A:p.G472D	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0246614719885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34621	T	0.033	0.53072	D	0.981	0.73220	D	0.714	0.67262	P	0.067537	0.21734	U	0.401360	1	0.08975	N	2.2	0.62015	M	2.0	0.21473	T	-1.33	0.33197	N	0.701	0.70527	-1.1159	0.02608	T	0.061	0.25563	T	10	0.28031874	0.45607	T	0.024661	0.47647	T	0.120	0.33359	0.309	0.28128	0.505518066752	0.50189	0.49398008868160603	0.49319	0.304373407854	0.32745	0.632327795029	0.57476	T	0.221599	0.58522	T	-0.0971787	0.36893	T	-0.377367	0.36031	T	0.551897943019867	0.34549	D	0.867413	0.56831	D	0.089242764	0.20846	0.106392555	0.25594	0.089242764	0.20845	0.106392555	0.25593	-6.361	0.49696	T	.	.	0.219	0.44986	B	.;.	.;.	2.771526	0.36384	20.2	0.99615877655516938	0.75112	0.21778	0.21521	N	AEFDBI	0.163615	0.28991	N	-0.172212598344184	0.34294	1.955765	-0.291487721224809	0.28378	1.581838	0.977374008088843	0.29815	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.74	2.81	0.31971	0.603000	0.23848	2.437000	0.32756	0.594000	0.32500	0.011000	0.18532	0.983000	0.30585	0.965000	0.52897	0.512:0.3968:0.0:0.0911	6.475	0.21232	884	0.28482	.;ZU5 domain|ZU5 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	700.43	39	chr11	801512	.	C	T	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.165;DP=438;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.401;SOR=0.39	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1530	9	0	1	0
chr11	810319	810319	A	C	exonic	RPLP2	.	nonsynonymous SNV	RPLP2:NM_001004:exon2:c.A85C:p.S29R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.501048206784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.019	0.59159	D	0.973	0.57599	D	0.893	0.63340	P	0.000001	0.84330	D	0.091922	1	0.81001	D	3.235	0.89610	M	.	.	.	-3.64	0.69835	D	0.901	0.90138	0.456	0.89922	D	0.595	0.85530	D	9	0.9483597	0.94165	D	0.501048	0.95153	D	0.462	0.75889	0.665	0.80300	0.544095356242	0.54064	0.8695827263635135	0.86923	0.470588042752	0.46329	0.794204950333	0.81082	T	0.724173	0.92228	D	0.331338	0.85254	D	0.238168	0.85059	D	0.993255496025085	0.83982	D	0.883312	0.60567	D	0.7891989	0.83223	0.49686763	0.70906	0.7891989	0.83224	0.49686763	0.70906	-14.672	0.95036	D	.	.	0.993	0.94772	P	.;.	.;.	5.329420	0.89437	30	0.99773513344964793	0.86088	0.96838	0.71213	D	ALL	0.944543	0.95175	D	0.67387202013023	0.77921	6.768709	0.518538759296509	0.69238	5.332003	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.19	4.19	0.48645	8.803000	0.91534	10.820000	0.83844	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	1.0:0.0:0.0:0.0	13.254	0.59500	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	472.43	37	chr11	810319	.	A	C	472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.155;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.384;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,983	9	0	1	0
chr11	865532	865532	A	G	exonic	TSPAN4	.	nonsynonymous SNV	TSPAN4:NM_001025238:exon5:c.A350G:p.Q117R,TSPAN4:NM_001025239:exon5:c.A158G:p.Q53R,TSPAN4:NM_001025234:exon6:c.A350G:p.Q117R,TSPAN4:NM_001025235:exon6:c.A350G:p.Q117R,TSPAN4:NM_001025236:exon6:c.A350G:p.Q117R,TSPAN4:NM_001025237:exon6:c.A350G:p.Q117R,TSPAN4:NM_003271:exon6:c.A350G:p.Q117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0512619279359	.	0.00119808	0.0013	0	8.84e-05	0	0	0	0	0.0092	0.001022	158	154602	rs535155860	0.0005	0.0005	0.0003	0.0008	0.0086	0.0005	0.0005	0.0081	0.0079	2.99e-05	0	0	0	0	0.0004	7.195e-06	0.0006	0.0086	0.0003	0.0003	5.143e-05	0.0005	0.0077	0.0002	0.0002	0.0057	0.0050	2.407e-05	0	6.539e-05	0	0	0	0	0	0	0.0077	0.469	0.09101	T	0.631	0.11725	T	0.0	0.02946	B	0.001	0.04355	B	0.609585	0.05693	N	1.200410	1	0.81001	D	0.66	0.16226	N	-2.21	0.86963	D	-0.8	0.30140	N	0.171	0.18920	-0.7489	0.57993	T	0.399	0.75081	T	10	0.0052879453	0.00116	T	0.051262	0.64589	D	0.265	0.57870	0.389	0.41115	0.36355261348	0.35965	0.580396208085068	0.57968	0.0696345620338	0.07791	0.208681613207	0.00756	T	0.128496	0.45619	T	-0.429552	0.01492	T	-0.382691	0.35406	T	0.0109734640174461	0.00158	T	0.0337966	0.00443	T	0.0380582	0.04999	0.041787915	0.04830	0.0380582	0.04999	0.041787915	0.04829	-5.886	0.45316	T	.	.	0.091	0.21201	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	-0.194403	0.03119	0.498	0.66788478004336771	0.08161	0.07544	0.13556	N	AEFDBHCI	0.156317	0.28166	N	-1.68297741025994	0.00904	0.039115	-1.69028711744973	0.01181	0.0531429	0.998380090698305	0.36869	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	3.28	-3.86	0.03951	-0.192000	0.09585	-0.795000	0.07398	-1.109000	0.01494	0.000000	0.06391	0.000000	0.08366	0.950000	0.49671	0.6497:0.0:0.3503:0.0	10.029	0.41262	878	0.29785	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1199.43	36	chr11	865532	.	A	G	1199.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.889;DP=502;ExcessHet=0;FS=5.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=-0.501;SOR=1.445	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	9	0	1	0
chr11	865735	865735	G	C	exonic	TSPAN4	.	nonsynonymous SNV	TSPAN4:NM_001025238:exon6:c.G474C:p.E158D,TSPAN4:NM_001025239:exon6:c.G282C:p.E94D,TSPAN4:NM_001025234:exon7:c.G474C:p.E158D,TSPAN4:NM_001025235:exon7:c.G474C:p.E158D,TSPAN4:NM_001025236:exon7:c.G474C:p.E158D,TSPAN4:NM_001025237:exon7:c.G474C:p.E158D,TSPAN4:NM_003271:exon7:c.G474C:p.E158D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0586543915851	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs567184065	6.844e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.565e-06	6.561e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.383	0.16144	T	0.554	0.32568	T	0.004	0.12183	B	0.02	0.19048	B	0.280688	0.14951	N	0.650743	0.902117	0.37353	D	0.995	0.25082	L	-1.21	0.78645	T	-0.2	0.17834	N	0.313	0.38643	-0.9382	0.42900	T	0.215	0.57652	T	10	0.084721446	0.14230	T	0.058654	0.67393	D	0.370	0.68930	0.397	0.42426	0.355450299083	0.35149	0.7446324019275813	0.74409	0.0644889919171	0.07196	0.709886193275	0.68577	T	0.110491	0.42523	T	0.0713062	0.61007	D	-0.13535	0.60518	T	0.0747819840908051	0.09306	T	0.727827	0.50550	T	0.04401204	0.06961	0.03828303	0.03663	0.04401204	0.06960	0.03828303	0.03662	-8.856	0.66765	D	.	.	0.124	0.29806	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.613947	0.20623	14.83	0.95991218693809111	0.28388	0.62730	0.31870	D	AEFDBHCI	0.652432	0.62583	D	-0.873338765761287	0.11480	0.5542027	-0.756492746302638	0.15564	0.8191198	0.991951054928162	0.32667	0.741868	0.97996	0	0.694456	0.67091	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	3.58	0.639	0.16919	0.009000	0.13117	0.785000	0.21516	-0.301000	0.06190	0.796000	0.29669	0.999000	0.35428	0.915000	0.45038	0.4206:0.0:0.5794:0.0	8.874	0.34490	878	0.29785	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2205.43	36	chr11	865735	.	G	C	2205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.646;DP=623;ExcessHet=0;FS=0.509;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=0.296;SOR=0.649	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	9	0	1	0
chr11	865826	865829	GTGA	-	splicing	TSPAN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.422e-05	0	0.0002	0.0002	0	1.607e-05	0	0	3.23e-05	5	154602	rs776268263	3.425e-05	3.42e-05	2.453e-05	4.407e-05	0.0001	2.635e-05	2.378e-05	4.369e-05	2.774e-05	0	0.0001	0	5.045e-05	0	0	3.868e-05	0	0	5.251e-05	5.249e-05	7.708e-05	2.685e-05	0.0002	2.555e-05	1.829e-05	2.257e-05	9.06e-06	2.405e-05	0	0.0001	0	0.0002	0	0.0034	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2694.39	36	chr11	865825	.	GGTGA	G	2694.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.061;DP=526;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.71;ReadPosRankSum=-0.364;SOR=0.76	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,111,1665	9	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	24716.1	748	chr11	1016991	.	T	*	24716.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.01;DP=6114;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4325;MLEAC=1;MLEAF=0.05;MQ=54.82;MQRankSum=-16.61;QD=6.16;ReadPosRankSum=-4.328;SOR=0.731	GT:AD:DP:GQ:PL	0/0:507,49:739:99:5659,5246,27137	9	0	1	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	39763.3	756	chr11	1017464	.	T	*	39763.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.02;DP=6499;ExcessHet=22.563;FS=0.565;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.69;MQRankSum=-13.34;QD=6.24;ReadPosRankSum=3.18;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:431,0:610:99:.:.:3113,4391,22483:.	9	0	1	0
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30729.3	767	chr11	1017466	.	T	*	30729.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=6481;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.72;MQRankSum=-12.72;QD=4.75;ReadPosRankSum=3.1;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:436,0:608:99:.:.:3828,5133,23437:.	9	0	1	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1823.75	750	chr11	1017467	.	G	*	1823.75	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.56;DP=6427;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3817;MLEAC=1;MLEAF=0.056;MQ=55.72;MQRankSum=-3.342;QD=0.57;ReadPosRankSum=-1.226;SOR=0.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:557,0:608:99:.:.:465,2141,25510:.	8	0	1	1
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	55257.9	768	chr11	1017470	.	G	*	55257.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=6495;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.74;MQRankSum=-13.13;QD=8.61;ReadPosRankSum=3.65;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:442,0:618:99:0|1:1017440_C_T:6060,7390,25950:1017440	9	0	1	0
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1847.45	744	chr11	1017471	.	C	*	1847.45	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.946;DP=6380;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.1;MQ=55.91;MQRankSum=-7.165;QD=0.57;ReadPosRankSum=2.72;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:598,0:598:99:.:.:0,120,1800:.	8	0	2	0
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	9099.93	769	chr11	1017474	.	G	*	9099.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.862;DP=6521;ExcessHet=22.563;FS=1.995;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.73;MQRankSum=-6.15;QD=1.41;ReadPosRankSum=1.48;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:572,0:625:99:0|1:1017458_A_G:504,2225,26244:1017458	9	0	1	0
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	141.74	751	chr11	1017475	.	T	G	141.74	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.75;DP=6320;ExcessHet=0.7463;FS=3.013;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=56.57;MQRankSum=-4.029;QD=0.08;ReadPosRankSum=5.58;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:577,45:622:99:.:.:153,0,24093:.	9	0	1	0
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	141.74	751	chr11	1017475	.	T	*	141.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.75;DP=6320;ExcessHet=0.7463;FS=3.013;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=56.57;MQRankSum=-4.029;QD=0.08;ReadPosRankSum=5.58;SOR=1.044	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:577,0:622:99:.:.:153,1890,26118:.	8	0	2	0
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	48322.9	779	chr11	1017483	.	T	*	48322.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.08;DP=6482;ExcessHet=22.563;FS=0.613;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=55.76;MQRankSum=-13.63;QD=7.54;ReadPosRankSum=4.3;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:468,0:621:99:0|1:1017440_C_T:5016,6424,26076:1017440	9	0	1	0
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	2945.58	785	chr11	1017485	.	G	*	2945.58	.	AC=1;AF=0.063;AN=16;BaseQRankSum=1.77;DP=6403;ExcessHet=4.5998;FS=2.898;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.063;MQ=55.3;MQRankSum=-9.479;QD=0.76;ReadPosRankSum=7.4;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:559,0:628:99:.:.:333,2016,25488:.	7	0	1	2
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4396.34	754	chr11	1017489	.	G	*	4396.34	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.05;DP=6420;ExcessHet=7.0302;FS=0.933;InbreedingCoeff=-0.4999;MLEAC=1;MLEAF=0.05;MQ=55.85;MQRankSum=-7.083;QD=1.03;ReadPosRankSum=0.275;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:611,0:611:99:.:.:0,120,1800:.	9	0	1	0
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	7967.54	798	chr11	1017495	.	ATGC	*	7967.54	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.48;DP=6510;ExcessHet=15.1594;FS=3.238;InbreedingCoeff=-0.9015;MLEAC=1;MLEAF=0.056;MQ=55.67;MQRankSum=-9.696;QD=1.32;ReadPosRankSum=8.08;SOR=1.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:589,0:657:99:.:.:1082,2855,27376:.	8	0	1	1
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	18226.3	780	chr11	1017498	.	C	*	18226.3	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.519;DP=6053;ExcessHet=15.1594;FS=1.126;InbreedingCoeff=-0.9048;MLEAC=1;MLEAF=0.056;MQ=55.85;MQRankSum=-18.42;QD=3.3;ReadPosRankSum=5.53;SOR=0.586	GT:AD:DP:GQ:PL	0/0:418,67:643:99:2495,958,18284	8	0	1	1
chr11	1017891	1017891	G	T	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4910A:p.A1637E	.	342	893	161	0	126	287	0.0826913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00160847877757	.	.	3.335e-05	0	0	0	0.0002	4.536e-05	0	0	.	.	.	.	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.113	0.36901	T	0.985	0.61118	D	0.885	0.62825	P	.	.	.	.	1	0.08975	N	1.3	0.32576	L	2.22	0.18248	T	-0.18	0.09796	N	0.053	0.02462	-1.0932	0.05020	T	0.035	0.15074	T	9	0.102692544	0.18837	T	0.001608	0.02600	T	0.060	0.17295	.	.	0.281780670237	0.27795	0.09278683405377418	0.09210	0.103695909574	0.11733	0.165941432118	0.00020	T	0.020064	0.15863	T	-0.330459	0.06077	T	-0.712458	0.05169	T	0.0870277977061818	0.10862	T	.	.	.	0.080301575	0.18392	0.11164214	0.26933	0.080301575	0.18391	0.11164214	0.26932	-9.307	0.69651	D	.	.	0.118	0.23986	B	.	.	1.309505	0.17126	12.97	0.3105354391461434	0.01730	0.01241	0.04378	N	AEFDGBCI	0.027707	0.02312	N	-0.93578728676145	0.10013	0.4765682	-1.16165150961472	0.06561	0.3162101	0.999990071190048	0.74766	0.675202	0.55065	0	0.606735	0.50208	0	0.67197	0.60751	0	0.264475	0.05362	3	.	.	2.39	-1.75	0.07598	-0.994000	0.03827	-3.104000	0.03058	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.4593:0.5407	9.313	0.37079	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3736.16	416	chr11	1017891	.	G	T	3736.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.622;DP=4792;ExcessHet=0.7463;FS=3.94;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=55.73;MQRankSum=-8.448;QD=2.27;ReadPosRankSum=0.23;SOR=1.08	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:483,0:483:99:.:.:0,120,1800:.	8	0	2	0
chr11	1017892	1017892	C	0	exonic	MUC6	.	.	.	.	354	873	156	4	135	299	0.0858639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2736.46	416	chr11	1017892	.	C	*	2736.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.832;DP=4774;ExcessHet=0.7463;FS=3.94;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=55.74;MQRankSum=-8.576;QD=1.68;ReadPosRankSum=0.133;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:483,0:483:99:.:.:0,120,1800:.	9	0	1	0
chr11	1017980	1017980	G	C	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4821G:p.H1607Q	.	377	1113	31	0	1	32	0.013735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00294131736266	.	.	.	.	.	.	.	.	.	.	.	.	.	rs77536353	0	1.71e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.071	0.35165	T	0.546	0.09555	T	0.963	0.55692	D	0.828	0.59497	P	.	.	.	.	1	0.08975	N	2.125	0.59049	M	2.29	0.17113	T	-0.52	0.16187	N	0.064	0.03613	-1.0438	0.16177	T	0.055	0.23072	T	9	0.11826384	0.22355	T	0.002941	0.06250	T	0.018	0.03083	0.176	0.08257	0.338834610459	0.33488	0.12495968873936728	0.12421	0.089077498397	0.10066	0.168520405889	0.00027	T	0.028716	0.20737	T	-0.37366	0.03413	T	-0.774513	0.02623	T	0.0780681323622793	0.09738	T	.	.	.	0.03696404	0.04647	0.047161993	0.06733	0.03696404	0.04647	0.047161993	0.06733	-7.978	0.60920	D	.	.	0.096	0.15475	B	.	.	0.227088	0.06087	2.531	0.53594529813230063	0.04970	0.02502	0.06989	N	AEFDGBCI	0.045586	0.07473	N	-0.61535458523796	0.18482	0.9599189	-0.889736591911147	0.12336	0.6339777	0.98217000833971	0.30362	0.660377	0.49826	0	0.694456	0.67091	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.39	-0.544	0.11254	-0.991000	0.03839	-20.000000	0.00162	-0.293000	0.06271	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2309:0.2258:0.5434:0.0	3.857	0.08487	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	97.14	342	chr11	1017980	.	G	C	97.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.8;DP=3777;ExcessHet=0.2348;FS=17.339;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=54.62;MQRankSum=-4.684;QD=0.18;ReadPosRankSum=-2.834;SOR=3.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:335,0:335:99:.:.:0,120,1800:.	8	0	2	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	468.85	245	chr11	1018228	.	G	*	468.85	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.67;DP=2185;ExcessHet=7.0302;FS=18.309;InbreedingCoeff=-0.5385;MLEAC=5;MLEAF=0.25;MQ=56.96;MQRankSum=-9.438;QD=0.31;ReadPosRankSum=-2.147;SOR=2.537	GT:AD:DP:GQ:PL	0/0:250,0:250:99:0,99,1800	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	5261.36	292	chr11	1018290	.	G	A	5261.36	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.14;DP=2815;ExcessHet=15.1594;FS=18.65;InbreedingCoeff=-0.8182;MLEAC=7;MLEAF=0.35;MQ=55.31;MQRankSum=-9.462;QD=2.02;ReadPosRankSum=0.915;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:286,39:354:99:.:.:777,0,11892:.	3	0	7	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.1	2919.14	118	chr11	1075685	.	C	T	2919.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.873;DP=512;ExcessHet=0.2348;FS=5.858;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.27;SOR=0.424	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,101,1178	8	0	2	0
chr11	1078317	1078317	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000199681	0.0005	0.0016	0.0001	0.0004	0	0.0001	0.0033	0.0013	0.0002652	41	154602	rs370807437	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0009	0.0008	0.0010	0.0002	3.844e-05	0.0001	0	0.0007	6.305e-05	0.0002	0.0010	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0	0	0.0002	0	0	7.351e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.001366	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	1760.43	126	chr11	1078317	.	C	T	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=1.12;SOR=0.683	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr11	1085182	1085182	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0470070870377	0.0004	0.000599042	0.0008	0	0.0003	0	0	0.0009	0.0012	0.0017	0.0006274	97	154602	rs375576703	0.0009	0.0009	0.0009	0.0010	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	3.828e-05	7.557e-05	0.0005	0.0007	0.0010	0.0011	0.0020	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	6.532e-05	0	0	0.0004	0	0.0009	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005882	0.000000	0.000000	0.000000	0.003817	0.1	3130.14	36	chr11	1085182	.	C	T	3130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.265;DP=600;ExcessHet=0.2348;FS=2.552;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.13;SOR=0.627	GT:AD:DP:GQ:PL	0/1:64,70:134:99:1602,0,1375	8	0	2	0
chr11	1088425	1088425	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0.0002	0	6.52e-05	0	0.0017	0.0001876	29	154602	rs568913498	0.0001	0.0001	6.012e-05	0.0002	0.0016	9.132e-05	8.636e-05	0.0014	0.0013	2.993e-05	0	0	0	1.944e-05	0.0002	5.408e-06	9.985e-05	0.0016	0.0001	0.0001	8.994e-05	0.0001	0.0023	7.086e-05	5.743e-05	0.0013	0.0010	0.0001	0	0	0	0	0	0	0	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1145.43	37	chr11	1088425	.	G	A	1145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.184;DP=417;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-0.35;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1387	9	0	1	0
chr11	1095030	1095030	-	T	exonic	MUC2	.	unknown	UNKNOWN	.	981	540	1	0	0	1	0.000925069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0004	0.0004	0.0007	0.0004	0.0003	0.0005	0.0004	0.0004	0.0003	0.0003	0.0007	0.0027	0.0003	0.0002	0.0005	0.0006	0.0060	0.0082	0.0059	0.0062	0.0072	0.0057	0.0056	0.0067	0.0064	0.0039	0	0.0059	0.0032	0.0039	0.0102	0.0035	0.0072	0.0067	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	60.41	31	chr11	1095030	.	C	CT	60.41	.	AC=1;AF=0.05;AN=20;DP=349;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=52.25;MQRankSum=0.842;QD=10.07;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:16,0:16:15:.:.:0,15,225:.	9	0	1	0
chr11	1095032	1095032	-	CACCAACCACCACTCCCAGCTCTCCAATAACCACCACTCCCAGCCCTCCAACAACCACCATGACCACCCCTT	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	0.0002	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	0.0002	0.0003	0.0005	0.0006	0.0006	0.0010	0.0001	0.0002	0.0004	0.0010	0.0016	0.0010	0.0010	0.0033	0.0007	0.0007	0.0009	0.0005	0.0011	0	0.0014	0	0.0033	0.0006	0	0.0008	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	21222.1	124	chr11	1095032	.	C	CCACCAACCACCACTCCCAGCTCTCCAATAACCACCACTCCCAGCCCTCCAACAACCACCATGACCACCCCTT	21222.1	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.716;DP=839;ExcessHet=2.5225;FS=18.158;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.071;MQ=58.05;MQRankSum=0.725;QD=27.97;ReadPosRankSum=-6.788;SOR=1.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:4,0:96:99:1|1:1095004_T_C:3948,3957,4010:1095004	6	0	1	3
chr11	1096006	1096006	-	ACCCCAACACCCACCGGCACACAGACCCCAACATCG	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0011	0.0002	0.0002	0.0024	0.0002	0.0002	0.0019	0.0017	0.0004	0.0002	0.0004	0.0024	4.886e-05	0.0004	8.61e-05	0.0002	0.0002	7.2e-05	6.755e-05	0	0.0002	0.0003	1.192e-05	4.46e-06	5.999e-05	2.487e-05	0.0003	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2314.53	231	chr11	1096006	.	A	AACCCCAACACCCACCGGCACACAGACCCCAACATCG	2314.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=2265;ExcessHet=0;FS=50.164;InbreedingCoeff=-0.146;MLEAC=1;MLEAF=0.071;MQ=56.9;MQRankSum=-9.243;QD=10.47;ReadPosRankSum=-10.89;SOR=2.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:180,0:180:99:.:.:0,120,1800:.	6	0	1	3
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	7445.87	286	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	7445.87	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.63;DP=5381;ExcessHet=8.3924;FS=0;InbreedingCoeff=-0.5278;MLEAC=4;MLEAF=0.222;MQ=57.39;MQRankSum=-5.608;QD=2.82;ReadPosRankSum=-0.805;SOR=0.713	GT:AD:DP:GQ:PL	./.:338,0:338:0:0,0,0	5	0	4	1
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	582.16	190	chr11	1096155	.	C	*	582.16	.	AC=6;AF=0.333;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.333;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	3	0	6	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	582.16	190	chr11	1096155	.	C	G	582.16	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.891;DP=5240;ExcessHet=8.3924;FS=0.551;InbreedingCoeff=-0.5278;MLEAC=1;MLEAF=0.056;MQ=55.84;MQRankSum=-3.048;QD=0.26;ReadPosRankSum=-4.847;SOR=0.736	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	8	0	1	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3473.36	290	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	3473.36	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.79;DP=4369;ExcessHet=3.2736;FS=0;InbreedingCoeff=-0.3919;MLEAC=2;MLEAF=0.143;MQ=57.65;MQRankSum=-5.608;QD=1.86;ReadPosRankSum=0.636;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	5	0	2	3
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1293.0	252	chr11	1096180	.	C	*	1293.0	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.242;DP=4319;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.92;MQRankSum=-4.469;QD=0.74;ReadPosRankSum=-1.534;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	2	0	5	3
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1288.98	254	chr11	1096181	.	C	*	1288.98	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.144;DP=4320;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=6;MLEAF=0.429;MQ=55.94;MQRankSum=-4.522;QD=0.73;ReadPosRankSum=-1.305;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	2	0	5	3
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1288.98	254	chr11	1096181	.	C	G	1288.98	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.144;DP=4320;ExcessHet=5.3821;FS=0.539;InbreedingCoeff=-0.5278;MLEAC=1;MLEAF=0.071;MQ=55.94;MQRankSum=-4.522;QD=0.73;ReadPosRankSum=-1.305;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	6	0	1	3
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1269.43	263	chr11	1096211	.	A	*	1269.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.64;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.43;MQRankSum=-4.857;QD=0.68;ReadPosRankSum=6.96;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	1	0	5	4
chr11	1096212	1096212	C	0	exonic	MUC2	.	.	.	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1268.43	261	chr11	1096212	.	C	*	1268.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=2.89;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=6;MLEAF=0.5;MQ=56.5;MQRankSum=-4.926;QD=0.68;ReadPosRankSum=7.08;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	1	0	5	4
chr11	1096212	1096212	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	603	738	12	0	169	181	0.00806452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400696229	0.0042	0.0094	0.0040	0.0044	0.0105	0.0040	0.0039	0.0063	0.0057	0.0078	0.0031	0.0092	0.0039	0.0418	0.0105	0.0037	0.0060	0.0014	0.0038	0.0063	0.0033	0.0042	0.0040	0.0032	0.0030	0.0032	0.0029	0.0039	0	0.0038	0.0018	0.0024	0.0035	0	0.0040	0.0049	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1268.43	261	chr11	1096212	.	C	T	1268.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.89;DP=4341;ExcessHet=5.3821;FS=0;InbreedingCoeff=-0.6027;MLEAC=1;MLEAF=0.083;MQ=56.5;MQRankSum=-4.926;QD=0.68;ReadPosRankSum=7.08;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:338,0:338:0:.:.:0,0,0:.	5	0	1	4
chr11	1096261	1096261	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	437	1081	4	0	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325006662	0.0004	0.0005	0.0003	0.0005	0.0043	0.0004	0.0004	0.0036	0.0034	0.0043	0.0006	0.0015	8.784e-05	0.0002	0.0022	0.0001	0.0009	0.0026	0.0012	0.0014	0.0011	0.0013	0.0032	0.0011	0.0010	0.0028	0.0026	0.0032	0	0.0005	0.0038	0	0	0	0.0003	0.0005	0.0028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1913.43	234	chr11	1096261	.	C	T	1913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.17;DP=3590;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.97;MQRankSum=3.91;QD=4.05;ReadPosRankSum=-0.521;SOR=0.748	GT:AD:DP:GQ:PL	0/0:361,0:361:99:0,120,1800	9	0	1	0
chr11	1096374	1096374	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	573	938	11	0	0	11	0.00582936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486501087	0.0007	0.0036	0.0006	0.0008	0.0011	0.0007	0.0006	0.0008	0.0008	0.0001	0.0004	0.0005	0.0001	0.0024	0.0011	0.0007	0.0009	0.0010	0.0008	0.0014	0.0006	0.0009	0.0013	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0009	0.0003	0	0.0011	0	0.0011	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	676.43	297	chr11	1096374	.	C	T	676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.925;DP=2598;ExcessHet=0;FS=7.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.78;MQRankSum=-3.787;QD=2.28;ReadPosRankSum=-0.897;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:216,0:216:99:.:.:0,120,1800:.	9	0	1	0
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3440.14	115	chr11	1096594	.	C	A	3440.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.86;DP=1405;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.7;MQRankSum=2.5;QD=9.64;ReadPosRankSum=0.889;SOR=0.676	GT:AD:DP:GQ:PL	0/0:169,0:169:99:0,120,1800	8	0	2	0
chr11	1096606	1096606	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	563	945	12	0	2	14	0.00630915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222095683	0.0067	0.0063	0.0067	0.0066	0.0077	0.0066	0.0065	0.0076	0.0075	0.0010	0.0023	0.0046	0.0003	0.0011	0.0074	0.0077	0.0049	0.0040	0.0041	0.0052	0.0042	0.0040	0.0066	0.0037	0.0036	0.0060	0.0057	0.0011	0.0017	0.0032	0.0044	0.0015	0.0009	0.0072	0.0066	0.0015	0.0030	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1808.43	115	chr11	1096606	.	C	T	1808.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=1222;ExcessHet=0;FS=1.318;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.41;MQRankSum=0.519;QD=10.76;ReadPosRankSum=-1.952;SOR=0.572	GT:AD:DP:GQ:PL	0/1:87,81:168:99:1820,0,1899	9	0	1	0
chr11	1096645	1096645	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	692	825	4	1	0	6	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198884028	0.0009	0.0007	0.0005	0.0012	0.0107	0.0008	0.0008	0.0100	0.0098	7.623e-05	0.0001	0	3.448e-05	0	0.0027	0.0001	0.0007	0.0107	7.443e-05	0.0004	9.884e-05	4.983e-05	0.0025	1.973e-05	1.047e-05	0.0004	0.0002	0	0	0	0	0	0	0	5.081e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	2151.05	78	chr11	1096645	.	C	A	2151.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.247;DP=1077;ExcessHet=0;FS=2.819;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.07;MQRankSum=0.76;QD=12.88;ReadPosRankSum=-0.958;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:88,0:88:99:.:.:0,120,1800:.	8	0	1	1
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	44.41	21	chr11	1096743	.	T	C	44.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.96;DP=294;ExcessHet=0.2348;FS=25.21;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=51.86;MQRankSum=-2.738;QD=0.87;ReadPosRankSum=-1.425;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:24,0:27:45:0|1:1096735_G_A:45,118,1125:1096735	3	0	1	6
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	44.41	21	chr11	1096743	.	T	*	44.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.96;DP=294;ExcessHet=0.2348;FS=25.21;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=51.86;MQRankSum=-2.738;QD=0.87;ReadPosRankSum=-1.425;SOR=3.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,3:27:45:0|1:1096735_G_A:45,0,999:1096735	3	0	1	6
chr11	1096825	1096825	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1304715576	0.0029	0.0037	0.0029	0.0029	0.0097	0.0028	0.0027	0.0082	0.0076	0.0052	0.0066	0.0051	0.0097	0.0069	0.0030	0.0021	0.0034	0.0043	0.0013	0.0029	0.0014	0.0012	0.0054	0.0002	9.588e-05	.	.	0.0054	.	0	0	0	0.0057	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	32.05	30	chr11	1096825	.	C	T	32.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.771;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=42.84;MQRankSum=-0.44;QD=1.28;ReadPosRankSum=-1.156;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,953	8	0	1	1
chr11	1096870	1096870	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1431967295	0.0044	0.0061	0.0043	0.0045	0.0113	0.0042	0.0041	0.0093	0.0086	0.0052	0.0030	0.0056	0.0113	0.0191	0.0054	0.0037	0.0070	0.0042	0.0058	0.0028	0.0075	0.0043	0.0185	0.0023	0.0015	0.0020	0.0010	0	.	0	0	0.0185	0.0109	0	0.0072	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	186.05	30	chr11	1096870	.	A	C	186.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.24;DP=474;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=42.53;MQRankSum=-2.721;QD=2.04;ReadPosRankSum=-3.256;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,953:.	8	0	1	1
chr11	1097032	1097032	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	714	805	2	0	1	3	0.00124069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357848776	0.0048	0.0026	0.0049	0.0047	0.0088	0.0046	0.0045	0.0060	0.0058	0.0016	0.0028	0.0025	0.0005	0.0064	0.0088	0.0063	0.0029	0.0024	0.0007	0.0009	0.0006	0.0008	0.0012	0.0005	0.0004	0.0008	0.0007	0	0	0.0006	0	0	0.0003	0	0.0012	0.0016	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	459.43	50	chr11	1097032	.	C	T	459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=831;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.51;MQRankSum=-0.115;QD=5.67;ReadPosRankSum=-1.006;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800:.	9	0	1	0
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	123.43	60	chr11	1097057	.	A	G	123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.057;DP=839;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.36;MQRankSum=0.74;QD=1.54;ReadPosRankSum=0.62;SOR=1.24	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	9	0	1	0
chr11	1097066	1097066	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	679	840	3	0	0	3	0.00178253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1254065654	0.0028	0.0037	0.0027	0.0029	0.0052	0.0027	0.0027	0.0034	0.0034	0.0004	0.0016	0.0017	0	0.0046	0.0052	0.0036	0.0016	0.0015	0.0005	0.0007	0.0004	0.0006	0.0007	0.0004	0.0003	0.0005	0.0004	9.276e-05	0	0.0001	0	0	0.0015	0	0.0007	0.0026	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	691.43	51	chr11	1097066	.	C	A	691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=889;ExcessHet=0;FS=8.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.59;MQRankSum=-0.934;QD=7.52;ReadPosRankSum=-0.487;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:70,0:70:99:.:.:0,99,1800:.	9	0	1	0
chr11	1097253	1097253	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	638	875	8	0	1	9	0.00455063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0298371299834	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179715210	0.0027	0.0052	0.0027	0.0027	0.0097	0.0026	0.0025	0.0086	0.0082	0.0097	0.0029	0.0052	0.0069	0.0056	0.0037	0.0021	0.0053	0.0006	0.0033	0.0072	0.0031	0.0035	0.0093	0.0030	0.0029	0.0064	0.0054	0.0054	0.0016	0.0015	0.0033	0.0093	0.0024	0	0.0023	0.0023	0.0055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015856	0.005319	0.027523	0.015152	0.000000	0.075000	0.019231	0.009804	0.15	876.45	74	chr11	1097253	.	C	A	876.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.965;DP=2442;ExcessHet=0.7463;FS=4.605;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=38.84;MQRankSum=-1.552;QD=0.89;ReadPosRankSum=-2.798;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:221,0:221:99:.:.:0,120,1800:.	7	0	3	0
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	2222.73	30	chr11	1097542	.	C	T	2222.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.729;DP=1674;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=56.12;MQRankSum=-1.79;QD=12.08;ReadPosRankSum=-1.27;SOR=0.775	GT:AD:DP:GQ:PL	./.:255,0:255:0:0,0,5058	7	0	1	2
chr11	1097560	1097564	AACGA	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.0034	0.0020	0.0022	0.0032	0.0020	0.0020	0.0020	0.0019	0.0024	0.0023	0.0035	0.0020	0.0085	0.0032	0.0018	0.0026	0.0023	0.0016	0.0013	0.0012	0.0020	0.0020	0.0013	0.0012	0.0016	0.0014	0.0013	0.0035	0.0018	0.0011	0.0016	0.0008	0	0.0020	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	52.69	25	chr11	1097559	.	CAACGA	C	52.69	.	AC=1;AF=0.063;AN=16;BaseQRankSum=3.02;DP=1682;ExcessHet=0;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=51.22;MQRankSum=-8.04;QD=0.42;ReadPosRankSum=-3.922;SOR=0.702	GT:AD:DP:GQ:PL	./.:255,0:255:0:0,0,5058	7	0	1	2
chr11	1097561	1097561	A	0	exonic	MUC2	.	.	.	.	747	760	8	1	6	16	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	800.03	21	chr11	1097561	.	A	*	800.03	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.091;DP=1706;ExcessHet=0.8432;FS=6.25;InbreedingCoeff=-0.2695;MLEAC=1;MLEAF=0.1;MQ=53.2;MQRankSum=-3.738;QD=1.56;ReadPosRankSum=3.04;SOR=1.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:211,0:255:99:0|1:1097561_A_T:783,957,9301:1097561	4	0	1	5
chr11	1097563	1097563	G	A	exonic	MUC2	.	unknown	UNKNOWN	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283237635	0.0067	0.0062	0.0063	0.0072	0.0186	0.0066	0.0065	0.0153	0.0140	0.0012	0.0033	0.0108	0.0003	0.0068	0.0186	0.0074	0.0061	0.0043	0.0032	0.0046	0.0031	0.0033	0.0055	0.0028	0.0026	0.0047	0.0044	0.0008	0.0049	0.0023	0.0065	0.0004	0.0014	0	0.0055	0.0082	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	2029.19	24	chr11	1097563	.	G	A	2029.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.18;DP=1708;ExcessHet=0.2348;FS=1.336;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=54.01;MQRankSum=2.25;QD=5.44;ReadPosRankSum=0.903;SOR=0.611	GT:AD:DP:GQ:PL	0/1:151,98:249:99:2040,0,4254	8	0	1	1
chr11	1097563	1097563	G	0	exonic	MUC2	.	.	.	.	650	853	10	3	6	22	0.00929152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2029.19	24	chr11	1097563	.	G	*	2029.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.18;DP=1708;ExcessHet=0.2348;FS=1.336;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=54.01;MQRankSum=2.25;QD=5.44;ReadPosRankSum=0.903;SOR=0.611	GT:AD:DP:GQ:PL	0/0:151,0:249:99:2040,2723,8076	8	0	1	1
chr11	1097584	1097584	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	640	870	3	3	6	15	0.0051458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409182406	0.0007	0.0023	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0014	0.0009	0.0007	0.0011	0.0021	0.0003	0.0006	0.0007	0.0009	0.0004	0.0014	0.0002	0.0005	0.0016	0.0002	0.0001	0.0001	6.105e-05	0.0004	0	0.0004	0.0015	0	0.0008	0	0.0002	0	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1097.9	48	chr11	1097584	.	C	T	1097.9	.	AC=2;AF=0.25;AN=8;BaseQRankSum=3.8;DP=1813;ExcessHet=0.2348;FS=1.703;InbreedingCoeff=-0.3319;MLEAC=3;MLEAF=0.375;MQ=54.37;MQRankSum=-4.057;QD=2.68;ReadPosRankSum=2.64;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:220,52:272:99:.:.:1087,0,8281:.	2	0	2	6
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	303.45	69	chr11	1097805	.	C	A	303.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.576;DP=903;ExcessHet=0.7463;FS=33.983;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=35.9;MQRankSum=0.114;QD=1.21;ReadPosRankSum=-0.617;SOR=4.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,10:87:99:0|1:1097750_G_A:183,0,3115:1097750	7	0	3	0
chr11	1098113	1098113	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	584	937	1	0	0	1	0.000533333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489547140	0.0051	0.0047	0.0051	0.0050	0.0099	0.0049	0.0048	0.0086	0.0081	0.0064	0.0099	0.0059	0.0085	0.0056	0.0021	0.0041	0.0066	0.0077	0.0117	0.0084	0.0116	0.0117	0.0135	0.0101	0.0095	0.0112	0.0104	0.0105	0	0.0084	0.0172	0.0076	0.0086	0	0.0135	0.0130	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	212.46	100	chr11	1098113	.	A	C	212.46	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.13;DP=1468;ExcessHet=0.2348;FS=3.898;InbreedingCoeff=-0.1235;MLEAC=2;MLEAF=0.1;MQ=41.8;MQRankSum=1.87;QD=0.69;ReadPosRankSum=-3.901;SOR=0.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:132,0:132:99:.:.:0,120,1800:.	8	0	2	0
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	233.49	100	chr11	1098120	.	C	A	233.49	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.728;DP=1216;ExcessHet=0;FS=0;InbreedingCoeff=-0.1778;MLEAC=1;MLEAF=0.083;MQ=39.16;MQRankSum=-0.957;QD=1.82;ReadPosRankSum=-0.95;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:128,0:128:0:.:.:0,0,2991:.	5	0	1	4
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	153.64	95	chr11	1098124	.	C	T	153.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.805;DP=1112;ExcessHet=0;FS=0;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=37.21;MQRankSum=-2.044;QD=1.37;ReadPosRankSum=-1.122;SOR=0.547	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:113,0:113:0:.:.:0,0,2934:.	3	0	1	6
chr11	1098174	1098174	G	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0004	0.0004	0.0008	0.0004	0.0003	0.0005	0.0005	0.0005	0.0003	0.0005	0.0008	0.0003	0	0.0004	0.0006	0.0002	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	137.63	26	chr11	1098174	.	G	C	137.63	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.305;DP=262;ExcessHet=0;FS=0;InbreedingCoeff=-0.3334;MLEAC=2;MLEAF=0.5;MQ=33.78;MQRankSum=-0.769;QD=4.92;ReadPosRankSum=-2.783;SOR=0.061	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:19,0:19:0:.:.:0,0,407:.	1	0	1	8
chr11	1098175	1098175	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0004	0.0004	0.0008	0.0004	0.0003	0.0006	0.0005	0.0006	0.0003	0.0004	0.0008	0.0003	0	0.0004	0.0007	0.0002	4.588e-05	0.0001	8.933e-05	0	0.0005	0	0	.	.	0	0	0.0005	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	138.93	26	chr11	1098175	.	T	C	138.93	.	AC=1;AF=0.167;AN=6;BaseQRankSum=1.66;DP=258;ExcessHet=0;FS=0;InbreedingCoeff=-0.2914;MLEAC=2;MLEAF=0.333;MQ=33.91;MQRankSum=-0.866;QD=5.15;ReadPosRankSum=-1.803;SOR=0.066	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:19,0:19:0:.:.:0,0,407:.	2	0	1	7
chr11	1098176	1098176	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0007	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0.0003	0.0004	0.0007	0.0002	0	0.0004	0.0006	0.0002	0	9.011e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	97.47	23	chr11	1098176	.	A	C	97.47	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.77;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.2158;MLEAC=2;MLEAF=0.2;MQ=34.36;MQRankSum=-1.036;QD=3.9;ReadPosRankSum=-1.803;SOR=0.05	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:19,0:19:0:.:.:0,0,407:.	4	0	1	5
chr11	1098511	1098511	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435418765	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0011	0.0002	0.0002	0	0.0004	0	0.0001	0.0002	5.826e-05	0.0004	0.0003	0.0002	0.0006	0.0004	0.0002	0.0002	0.0001	9.011e-05	0	0	0.0003	0	0	0.0019	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	165.05	117	chr11	1098511	.	C	T	165.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=6;DP=1128;ExcessHet=0;FS=23.996;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=42.32;MQRankSum=-4.301;QD=1.41;ReadPosRankSum=-1.989;SOR=4.348	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:126,0:126:99:.:.:0,120,1800:.	8	0	1	1
chr11	1098538	1098538	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	674	844	4	0	0	4	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169334096	0.0032	0.0055	0.0033	0.0031	0.0031	0.0031	0.0030	0.0030	0.0029	0.0010	0.0019	0.0052	0.0011	0.0223	0.0025	0.0031	0.0044	0.0012	0.0150	0.0054	0.0122	0.0179	0.0232	0.0120	0.0110	0.0178	0.0159	0.0027	0	0.0049	0.0104	0.0053	0.0249	0.1000	0.0232	0.0323	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	646.49	169	chr11	1098538	.	T	C	646.49	.	AC=1;AF=0.083;AN=12;BaseQRankSum=6.33;DP=1702;ExcessHet=0;FS=50.479;InbreedingCoeff=-0.1778;MLEAC=1;MLEAF=0.083;MQ=43.64;MQRankSum=-6.495;QD=3.83;ReadPosRankSum=-3.356;SOR=5.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:126,0:126:99:.:.:0,120,1800:.	5	0	1	4
chr11	1098652	1098652	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	580	930	12	0	0	12	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162984494	0.0033	0.0046	0.0033	0.0033	0.0076	0.0033	0.0032	0.0058	0.0051	0.0003	0.0026	0.0013	0	0.0012	0.0076	0.0037	0.0028	0.0029	0.0009	0.0013	0.0009	0.0009	0.0017	0.0008	0.0007	0.0012	0.0011	5.304e-05	0.0024	0.0017	0.0009	0	0.0002	0.0076	0.0014	0.0022	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1093.43	375	chr11	1098652	.	C	T	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=2453;ExcessHet=0;FS=12.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.31;MQRankSum=0.661;QD=4.13;ReadPosRankSum=-0.483;SOR=1.397	GT:AD:DP:GQ:PL	0/0:204,0:204:99:0,120,1800	9	0	1	0
chr11	1099309	1099318	CCACCACCAC	-	exonic	MUC2	.	unknown	UNKNOWN	.	476	1041	4	0	1	5	0.00191755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.307e-06	7.528e-06	7.083e-06	1.455e-06	4.644e-06	1.55e-06	1.02e-06	1.36e-06	9.9e-07	0	0	0	0	0	0	4.644e-06	1.731e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	761.39	261	chr11	1099308	.	ACCACCACCAC	A	761.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=2835;ExcessHet=0;FS=3.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-2.948;QD=2.5;ReadPosRankSum=-1.403;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:268,0:268:99:.:.:0,120,1800:.	9	0	1	0
chr11	1099320	1099447	ACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTC	-	exonic	MUC2	.	unknown	UNKNOWN	.	552	965	4	0	1	5	0.00206825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.587e-06	5.495e-06	3.12e-06	0	2.016e-06	2.6e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.016e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	213.73	261	chr11	1099319	.	TACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACATTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCCGACACCCATCTC	T	213.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.492;DP=2871;ExcessHet=0;FS=0.89;InbreedingCoeff=0.3464;MLEAC=1;MLEAF=0.063;MQ=52.74;MQRankSum=1.84;QD=0.44;ReadPosRankSum=-1.362;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:268,0:268:99:.:.:0,120,1800:.	7	0	1	2
chr11	1099365	1099434	TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC	0	exonic	MUC2	.	.	.	.	745	712	48	0	17	65	0.0326087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1172.48	172	chr11	1099365	.	TTGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCC	*	1172.48	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.3;DP=3455;ExcessHet=4.1913;FS=8.3;InbreedingCoeff=-0.1837;MLEAC=2;MLEAF=0.25;MQ=52.84;MQRankSum=-0.081;QD=1.16;ReadPosRankSum=-3.227;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:254,0:254:0:.:.:0,0,1400:.	3	0	1	6
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2191.92	115	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	*	2191.92	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.75;DP=3327;ExcessHet=2.3007;FS=0.524;InbreedingCoeff=-0.1696;MLEAC=6;MLEAF=0.6;MQ=52.67;MQRankSum=-0.92;QD=1.9;ReadPosRankSum=-2.196;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:254,0:254:0:.:.:0,0,1400:.	1	0	4	5
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37325.4	122	chr11	1099370	.	G	*	37325.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.89;DP=3372;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=5;MLEAF=0.25;MQ=53.57;MQRankSum=-0.709;QD=17.77;ReadPosRankSum=0.377;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:193:99:.:.:5888,4728,5135:.	5	0	5	0
chr11	1099446	1099446	T	0	exonic	MUC2	.	.	.	.	637	671	209	1	4	215	0.135866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4326.62	187	chr11	1099446	.	T	*	4326.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.43;DP=3347;ExcessHet=10.4813;FS=10.857;InbreedingCoeff=-0.6374;MLEAC=2;MLEAF=0.143;MQ=50.12;MQRankSum=0.973;QD=2.68;ReadPosRankSum=-3.032;SOR=1.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:200,0:241:99:.:.:800,1242,9335:.	5	0	2	3
chr11	1102567	1102567	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0148874773164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9894	0.32753	T	0.138	0.45451	T	9	0.073093146	0.10999	T	0.014887	0.35296	T	.	.	.	.	.	.	0.2879401432622749	0.28707	.	.	0.299542248249	0.10332	T	0.020102	0.15887	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.	.	0.060996	0.04720	1.353	0.80345425271443893	0.13159	0.05258	0.11095	N	AEFDBI	0.108457	0.21576	N	-1.42782486762661	0.02397	0.1057934	-1.61671436651121	0.01557	0.07056345	0.964617387915035	0.28772	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.95	-7.91	0.01031	-0.512000	0.06397	-8.175000	0.01015	-0.438000	0.05181	0.000000	0.06391	0.000000	0.08366	0.283000	0.24091	0.0941:0.7485:0.0:0.1574	15.778	0.78007	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2759.43	42	chr11	1102567	.	C	T	2759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=524;ExcessHet=0;FS=11.147;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.433;SOR=1.349	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1251	9	0	1	0
chr11	1102596	1102596	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00882366438609	.	.	5.026e-05	0.0001	8.679e-05	0	0	6.098e-05	0	0	3.88e-05	6	154602	rs779527580	6.026e-05	6.02e-05	6.404e-05	5.644e-05	0.0002	4.966e-05	4.631e-05	5.623e-05	5.196e-05	5.974e-05	2.236e-05	0	7.557e-05	0	0.0002	6.926e-05	6.628e-05	0	5.254e-05	5.252e-05	3.852e-05	6.721e-05	0.0001	2.556e-05	1.829e-05	3.761e-05	2.574e-05	0	0	0.0001	0	0	0	0	8.817e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999992	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0062	0.28095	T	0.081	0.32090	T	9	0.10357955	0.19048	T	0.008824	0.23269	T	.	.	.	.	.	.	0.2156394443519796	0.21479	.	.	0.458770096302	0.33141	T	0.026614	0.19659	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.23952	B	.	.	1.863782	0.23674	16.11	0.98494126503951751	0.42132	0.19307	0.20609	N	AEFDBI	0.228325	0.35201	N	-0.625924883890172	0.18168	0.9410923	-0.726032395337505	0.16313	0.8624128	0.017691220320077	0.12979	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.95	-0.785	0.10397	-0.145000	0.10248	-1.465000	0.05378	0.467000	0.21759	0.001000	0.13787	0.000000	0.08366	0.965000	0.52897	0.6681:0.3319:0.0:0.0	13.781	0.62569	970	0.06235	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1391.43	38	chr11	1102596	.	C	G	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.785;DP=450;ExcessHet=0;FS=8.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.609;SOR=1.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1251:.	9	0	1	0
chr11	1184396	1184396	C	T	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6251T:p.S2084L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314566957	1.902e-05	1.908e-05	3.371e-05	5.26e-06	9.342e-05	8.9e-06	6.08e-06	8.46e-06	4.7e-06	9.342e-05	0	0	0	0	0	2.209e-05	4.409e-05	0	2.632e-05	3.283e-05	1.286e-05	4.042e-05	0.0002	8.15e-06	5.15e-06	1.173e-05	6.25e-06	0	0	0	0	0	0	0	4.42e-05	0	0.0002	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.09631	.	.	.	.	.	.	.	0.10994783	0.20531	T	.	.	.	.	.	.	.	.	.	0.05597092361749762	0.05538	.	.	.	.	.	0.154814	0.49626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.041	0.74157	D	.	.	0.106	0.19478	B	.	.	1.026768	0.14066	10.64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.437000	0.02525	-20.000000	0.00162	0.508000	0.23123	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3528.43	71	chr11	1184396	.	C	T	3528.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.695;DP=1328;ExcessHet=0;FS=1.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.24;MQRankSum=-10.99;QD=5.31;ReadPosRankSum=-0.209;SOR=0.878	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	9	0	1	0
chr11	1184497	1184497	C	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C6352A:p.P2118T	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403306679	6.078e-06	1.272e-05	4.346e-06	7.591e-06	3.651e-05	1.62e-06	4.5e-07	1.15e-06	4.3e-07	0	3.651e-05	0	0	0	0	6.91e-06	0	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	6.544e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.544e-05	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.13484	.	.	.	.	.	.	.	0.17039624	0.31701	T	.	.	.	.	.	.	.	.	.	0.13737709937010462	0.13661	.	.	.	.	.	0.511669	0.82748	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.302	0.81288	D	.	.	0.206	0.43227	B	.	.	1.066217	0.14482	11.05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.105000	0.10876	1.589000	0.27519	0.429000	0.20894	0.000000	0.06391	0.002000	0.18203	0.012000	0.09680	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5545.43	71	chr11	1184497	.	C	A	5545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=1471;ExcessHet=0;FS=2.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.8;MQRankSum=-1.762;QD=12.46;ReadPosRankSum=-0.615;SOR=0.515	GT:AD:DP:GQ:PL	0/0:84,0:84:99:0,120,1800	9	0	1	0
chr11	1199969	1199969	T	C	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon48:c.T16700C:p.M5567T	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00519169	0.0110	0.0020	0.0029	0.0002	0.0222	0.0122	0.0115	0.0175	0.0067852	1049	154602	rs80262142	0.0072	0.0071	0.0067	0.0076	0.0140	0.0070	0.0070	0.0132	0.0129	0.0012	0.0019	0.0043	5.57e-05	0.0138	0.0131	0.0070	0.0065	0.0140	0.0051	0.0051	0.0048	0.0055	0.0145	0.0048	0.0047	0.0118	0.0108	0.0016	0	0.0049	0.0043	0.0002	0.0106	0.0136	0.0063	0.0033	0.0145	.	.	.	0.375	0.16231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.0063442886	0.00143	T	.	.	.	.	.	.	.	0.401185642668	0.39728	0.6802852741398453	0.67967	.	.	.	.	.	0.148596	0.48722	T	-0.602865	0.00140	T	-0.627074	0.10637	T	.	.	.	.	.	.	0.111018784	0.26238	0.30103356	0.56136	0.111018784	0.26238	0.30103356	0.56135	-6.666	0.51554	T	.	.	0.182	0.39596	B	.	.	-0.641495	0.01462	0.089	0.48665955890249157	0.04080	0.08641	0.14542	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999068649206854	0.38343	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.115614	0.24167	4.98	-5.5	0.02373	-1.198000	0.03144	-2.442000	0.03749	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.291000	0.24285	0.3958:0.085:0.2697:0.2495	1.448	0.02226	.	.	Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	594.43	81	chr11	1199969	.	T	C	594.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.469;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.102;SOR=0.582	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr11	1226857	1226857	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon4:c.G442A:p.V148I	.	419	1075	27	1	0	29	0.0133089	.	.	.	175096	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0073	0.00499201	0.0102	0.0026	0.0071	0	0.0160	0.0130	0.0112	0.0082	0.0091849	1420	154602	rs56293203	0.0099	0.0099	0.0097	0.0102	0.0248	0.0098	0.0097	0.0215	0.0202	0.0020	0.0060	0.0079	5.04e-05	0.0168	0.0248	0.0106	0.0085	0.0075	0.0084	0.0084	0.0083	0.0084	0.0120	0.0080	0.0078	0.0113	0.0110	0.0021	0.0022	0.0071	0.0058	0	0.0166	0.0137	0.0120	0.0152	0.0066	0.162	0.23541	T	.	.	.	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	0.999997	0.08975	N	1.085	0.27262	L	-0.29	0.67712	T	-0.73	0.20576	N	0.115	0.10340	-0.7727	0.56709	T	0.170	0.51020	T	9	0.0045601726	0.00095	T	.	.	.	0.162	0.41843	.	.	0.117191471859	0.11215	0.5773453042548944	0.57663	.	.	0.247350245714	0.03494	T	0.020929	0.16390	T	-0.548187	0.00299	T	-0.548533	0.17466	T	0.00244819744290527	0.00025	T	0.528347	0.17454	T	0.046239134	0.07704	0.09315256	0.21988	0.046239134	0.07704	0.09315256	0.21988	-6.032	0.46546	T	.	.	0.067	0.02458	B	.	.	0.349301	0.07226	3.820	0.57689718243420318	0.05825	0.04088	0.09549	N	AEFDBCI	0.081998	0.16599	N	-1.14863621935008	0.05802	0.2654677	-1.33051783104018	0.04041	0.189778	0.0210642125102472	0.13316	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	3.68	-3.73	0.04112	-0.180000	0.09747	-1.728000	0.04836	-0.845000	0.02763	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.462:0.0:0.538:0.0	11.339	0.48763	964	0.07719	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	RASSF7	Spleen	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020182	0.015152	0.020492	0.035088	0.000000	0.051724	0.015337	0.007576	0.05	1184.43	36	chr11	1226857	.	G	A	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.075;DP=423;ExcessHet=0;FS=6.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=0.737;SOR=0.192	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1441	9	0	1	0
chr11	1247067	1247067	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10187T:p.T3396M	.	419	1083	19	1	0	21	0.00960219	.	.	.	2839956	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.0017518871521	0.0004	.	0.0008	0	0	0	0	0.0009	0.0048	0.0010	0.0002523	39	154602	rs202040871	0.0007	0.0007	0.0007	0.0007	0.0026	0.0007	0.0007	0.0016	0.0013	0.0001	0.0004	0.0050	0.0002	0.0001	0.0026	0.0006	0.0010	0.0010	0.0005	0.0005	0.0005	0.0006	0.0007	0.0004	0.0004	0.0005	0.0004	0.0001	0	0.0007	0.0055	0	0	0	0.0006	0	0.0004	0.045	0.40832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.08	0.20255	T	-0.8	0.22078	N	0.085	0.06190	-1.0148	0.25400	T	0.021	0.08917	T	8	0.0076200366	0.00173	T	0.001752	0.02960	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.31721853306919756	0.31634	.	.	0.190046176314	0.00226	T	0.035152	0.23605	T	-0.666675	0.00057	T	-0.775961	0.02577	T	0.00606447827578364	0.00067	T	0.373163	0.08852	T	0.026398048	0.01691	0.08248823	0.18831	0.026398048	0.01691	0.08248823	0.18831	-8.659	0.65478	D	.	.	0.157	0.34775	B	.	.	0.628555	0.09970	6.725	0.32619299529096396	0.01900	0.01060	0.03938	N	AEFI	0.037577	0.05190	N	-1.42769480789935	0.02398	0.1058429	-1.53570907075174	0.02076	0.09493221	1.14501724228857E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	-0.765000	0.04836	-2.243000	0.04007	-1.341000	0.01203	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004122	0.005208	0.006192	0.000000	0.000000	0.000000	0.000000	0.012397	0.05	2628.43	112	chr11	1247067	.	C	T	2628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.476;DP=1247;ExcessHet=0;FS=0.502;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.28;MQRankSum=0.932;QD=12.34;ReadPosRankSum=0.954;SOR=0.708	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	9	0	1	0
chr11	1247258	1247258	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10378T:p.P3460S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00139655263601	.	.	0.0003	0.0011	8.714e-05	0.0009	0	6.106e-05	0	0.0008	7.68e-05	2	26028	rs200106077	0.0002	0.0004	0.0002	0.0003	0.0055	0.0002	0.0002	0.0049	0.0047	0.0003	8.95e-05	3.83e-05	0.0055	0	0	4.588e-05	0.0003	0.0007	0.0006	0.0009	0.0006	0.0006	0.0096	0.0005	0.0005	0.0074	0.0067	0.0007	0	0.0004	0	0.0096	0	0	8.837e-05	0.0005	0.0004	0.581	0.05973	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.99	0.21666	T	-1.97	0.45587	N	0.023	0.00407	-1.0446	0.15942	T	0.047	0.20116	T	9	0.010345995	0.00231	T	0.001397	0.02062	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.2417800626433341	0.24092	.	.	0.216585576534	0.01122	T	0.026858	0.19787	T	-0.591949	0.00163	T	-0.709799	0.05305	T	0.0188887172425098	0.00599	T	0.29917	0.05580	T	0.022990288	0.01002	0.04762698	0.06902	0.022990288	0.01002	0.04762698	0.06901	1.988	0.00052	T	.	.	0.061	0.01042	B	.	.	-0.631349	0.01488	0.093	0.57432856610170979	0.05768	0.00380	0.01923	N	AEFI	0.036370	0.04834	N	-1.00649754383629	0.08468	0.3971689	-1.1884646365629	0.06101	0.292679	8.95655638064933E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.39	0.095	0.13794	-2.570000	0.00989	-5.462000	0.01709	-1.716000	0.00736	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.188:0.6856:0.0:0.1263	5.778	0.17557	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1572.43	161	chr11	1247258	.	C	T	1572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.957;DP=1330;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.59;MQRankSum=-3.338;QD=8.15;ReadPosRankSum=-0.032;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:97,0:97:99:.:.:0,120,1800:.	9	0	1	0
chr11	1250829	1250829	G	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.G13949C:p.R4650T	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00998403	0.0078	0.0013	0.0019	0.0008	0.0003	0.0046	0.0076	0.0333	0.0063453	981	154602	rs199704716	0.0072	0.0081	0.0063	0.0081	0.0330	0.0071	0.0070	0.0319	0.0315	0.0013	0.0025	0.0089	0.0013	0.0011	0.0084	0.0059	0.0083	0.0330	0.0050	0.0050	0.0047	0.0052	0.0340	0.0047	0.0045	0.0297	0.0281	0.0018	0.0011	0.0038	0.0084	0.0014	0.0007	0.0071	0.0059	0.0044	0.0340	0.431	0.09514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.175	0.00131	N	2.35	0.16217	T	0.04	0.06488	N	0.026	0.00527	-0.9827	0.34375	T	0.015	0.06042	T	8	0.0036625862	0.00067	T	.	.	.	0.011	0.01250	.	.	0.043077524339	0.03247	0.2217473112674907	0.22089	.	.	0.260108709335	0.04903	T	0.015076	0.12713	T	-0.76032	0.00015	T	-0.841238	0.01080	T	0.00187877007298295	0.00019	T	0.210079	0.02530	T	0.060935345	0.12560	0.072975256	0.15807	0.060935345	0.12560	0.072975256	0.15806	0.131	0.00306	T	.	.	0.045	0.00051	B	.	.	-0.635716	0.01477	0.091	0.487978647465171	0.04102	0.00039	0.00329	N	AEFBI	.	.	.	-1.63730307468543	0.01090	0.04729457	-1.6896799995214	0.01183	0.05326659	9.02248078799318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.418	0.418	0.15647	-1.258000	0.02973	-2.843000	0.03305	-1.908000	0.00517	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008529	0.000000	0.001362	0.008403	0.000000	0.008621	0.018405	0.022727	0.05	2102.43	211	chr11	1250829	.	G	C	2102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.391;DP=1869;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.72;MQRankSum=-3.368;QD=11.24;ReadPosRankSum=-0.684;SOR=0.727	GT:AD:DP:GQ:PL	0/0:195,0:195:99:0,120,1800	9	0	1	0
chr11	1254776	1254776	G	A	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon35:c.G15560A:p.R5187H	.	407	1088	26	1	0	28	0.0127042	.	.	.	496969	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.088	.	0.0012	0.00319489	0.0028	0.0001	0.0009	0	0	0.0026	0.0034	0.0087	0.0025938	401	154602	rs201530874	0.0020	0.0020	0.0016	0.0023	0.0139	0.0019	0.0019	0.0114	0.0105	0.0004	0.0015	0.0172	0	0.0001	0.0139	0.0012	0.0033	0.0085	0.0021	0.0021	0.0020	0.0022	0.0102	0.0019	0.0018	0.0079	0.0071	0.0002	0	0.0031	0.0190	0.0002	0	0.0238	0.0020	0.0028	0.0102	0.549	0.06606	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.955	0.23872	L	0.23	0.59717	T	-0.07	0.08033	N	0.26	0.29429	-0.9434	0.42073	T	0.128	0.43605	T	9	0.0056170225	0.00125	T	.	.	.	0.088	0.25558	.	.	0.229543500084	0.22568	0.49850178030556436	0.49771	.	.	0.201641201973	0.00506	T	0.013289	0.11520	T	-0.532738	0.00370	T	-0.532045	0.19083	T	0.0109296992694224	0.00157	T	0.49905	0.15565	T	0.03054761	0.02737	0.03566126	0.02861	0.03054761	0.02736	0.03566126	0.02861	-3.371	0.14669	T	.	.	0.076	0.06114	B	.	.	0.904501	0.12785	9.303	0.59249882375432639	0.06180	0.06154	0.12135	N	AEFBCI	0.064271	0.12470	N	-0.774044062322131	0.13989	0.6932659	-0.907556955658707	0.11916	0.6099491	8.25008338032791E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.98	0.676	0.17125	-1.365000	0.02694	-2.084000	0.04237	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3387:0.0:0.4753:0.186	3.261	0.06444	946	0.12043	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009082	0.000000	0.004110	0.008772	0.000000	0.025862	0.024390	0.003788	0.05	2068.43	37	chr11	1254776	.	G	A	2068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=521;ExcessHet=0;FS=5.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=2.28;SOR=1.046	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1287	9	0	1	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4786.48	40	chr11	1630364	.	AGTCC	*	4786.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=2.566;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.54;QD=4.74;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,58:131:99:0|1:1630310_C_G:5245,2910,2839:1630310	4	0	6	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4769.48	40	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*	4769.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=1.818;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.7;QD=4.76;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,67:140:99:0|1:1630310_C_G:5460,2910,2852:1630310	4	0	6	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	17335.9	40	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	17335.9	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.85;DP=1824;ExcessHet=0.6204;FS=1.237;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.01;MQRankSum=-4.506;QD=12.68;ReadPosRankSum=0.914;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,67:140:58:1|1:1630310_C_G:2608,58,0:1630310	4	2	4	0
chr11	1747855	1747855	G	A	exonic	IFITM10	.	nonsynonymous SNV	IFITM10:NM_001170820:exon2:c.C349T:p.R117W	.	403	1063	53	3	0	59	0.0270023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0059	0.00479233	0.0135	0.0010	0.0091	0	0.0013	0.0118	0.0060	0.0327	0.0031759	491	154602	rs190833491	0.0086	0.0083	0.0082	0.0091	0.0270	0.0085	0.0084	0.0235	0.0222	0.0016	0.0058	0.0158	0	0.0026	0.0270	0.0085	0.0095	0.0180	0.0058	0.0058	0.0059	0.0056	0.0133	0.0055	0.0053	0.0106	0.0097	0.0015	0.0011	0.0059	0.0173	0.0002	0.0014	0.0340	0.0081	0.0119	0.0133	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.304973	0.14532	U	0.585427	0.949505	0.37655	D	0.895	0.22405	L	0.7	0.51474	T	-3.29	0.65742	D	0.496	0.52918	-0.8802	0.49746	T	0.099	0.37034	T	8	0.007443428	0.00169	T	.	.	.	0.113	0.31778	.	.	0.483670899158	0.47999	0.4080566555781379	0.40721	.	.	0.858771443367	0.90929	D	0.079636	0.36175	T	-0.403777	0.02186	T	-0.337838	0.40590	T	0.0390152272993604	0.03513	T	0.90231	0.65919	D	0.23435475	0.46254	0.26971132	0.52854	0.23435475	0.46254	0.26971132	0.52853	-5.023	0.37089	T	.	.	0.217	0.57230	B	.;.;.	.;.;.	3.162821	0.42862	21.6	0.99864039732502885	0.94184	0.79864	0.39661	D	AEFDBHCIJ	0.464640	0.51305	N	-0.075401472781962	0.38473	2.25391	-0.103824497521162	0.35235	2.036153	0.999999223515479	0.74766	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.620976	0.48614	0	.	.	2.6	2.6	0.30173	2.462000	0.44706	4.026000	0.41295	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.7973:0.2027	10.006	0.41129	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025194	0.005155	0.004167	0.009709	0.166667	0.068182	0.051402	0.062500	0.05	2685.43	37	chr11	1747855	.	G	A	2685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.453;DP=562;ExcessHet=0;FS=0.476;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.272;SOR=0.73	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1032	9	0	1	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1426	88	8	0	104	0.0351827	.	.	.	134325	Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_10|not_specified	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014691	0.005208	0.004076	0.026316	0.000000	0.017241	0.027607	0.018939	0.05	1425.43	35	chr11	1754122	.	C	T	1425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.831;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.684;SOR=0.634	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr11	1761383	1761383	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon2:c.G154A:p.V52I	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1517	3	2	0	7	0.00230187	.	.	YES	202549	not_provided|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|Neuronal_ceroid_lipofuscinosis_10	MedGen:C3661900|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.020	0.0430530342969	0.0002	0.000399361	0.0003	0.0003	0.0009	0.0028	0	3.032e-05	0.0011	6.058e-05	0.0002846	44	154602	rs143517230	9.1e-05	9.166e-05	0.0001	7.152e-05	0.0017	7.825e-05	7.307e-05	0.0009	0.0008	0.0003	0.0003	0	0.0012	0	0.0017	4.137e-05	0.0001	1.159e-05	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0001	0.0012	0.0009	0.0002	0	0.0005	0	0.0021	0	0	8.821e-05	0	0	0.819	0.03218	T	0.496	0.11335	T	0.0	0.02946	B	0.001	0.04355	B	0.413738	0.04607	N	1.637160	1	0.08975	N	-0.865	0.01458	N	0.59	0.63077	T	0.18	0.05917	N	0.098	0.07949	-1.0458	0.15592	T	0.101	0.37443	T	10	0.006499797	0.00147	T	0.043053	0.60786	D	0.020	0.03691	.	.	0.119812018005	0.11559	0.22215873469311648	0.22130	0.402147105335	0.41176	0.305395066738	0.11210	T	0.245469	0.61477	T	-0.591096	0.00165	T	-0.623318	0.10926	T	0.00139181355848336	0.00014	T	0.09989	0.00820	T	0.013902123	0.00074	0.018745264	0.00065	0.013902123	0.00073	0.018745264	0.00065	-4.405	0.29625	T	.	.	0.069	0.05404	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	0.335410	0.07092	3.664	0.79584787589665407	0.12808	0.02699	0.07344	N	AEFDBCI	0.094511	0.19108	N	-1.80675651760129	0.00529	0.02276623	-1.90250944337841	0.00484	0.02144554	0.999999994040486	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.71	-7.43	0.01238	-0.621000	0.05655	-2.140000	0.04154	-2.028000	0.00431	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.109:0.2085:0.5494:0.1331	5.824	0.17800	982	0.03397	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	712.43	34	chr11	1761383	.	C	T	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=373;ExcessHet=0;FS=1.055;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.373;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	9	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2	8215.57	39	chr11	1956322	.	G	A	8215.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.86;DP=958;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=1.45;SOR=0.706	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1400	6	0	4	0
chr11	2299635	2299635	-	G	exonic	C11orf21	.	frameshift insertion	C11orf21:NM_001329958:exon3:c.219dupC:p.T74Hfs*4,C11orf21:NM_001142946:exon4:c.357dupC:p.T120Hfs*4	.	414	1103	5	0	0	5	0.00226142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.00499201	0.0020	0	0	0.0257	0	0.0006	0.0049	0.0025	0.0005369	83	154602	rs3214127	0.0012	0.0012	0.0011	0.0013	0.0377	0.0012	0.0012	0.0360	0.0353	0	0.0001	0.0019	0.0377	0	0.0005	9.083e-05	0.0015	0.0018	0.0013	0.0014	0.0011	0.0016	0.0338	0.0012	0.0011	0.0297	0.0281	0	0	6.536e-05	0.0020	0.0338	0	0	0.0002	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003578	0.000000	0.006944	0.000000	0.000000	0.000000	0.008772	0.000000	0.05	1279.39	34	chr11	2299635	.	T	TG	1279.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=395;ExcessHet=0;FS=2.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.405;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	9	0	1	0
chr11	2402817	2402817	C	T	exonic	TSSC4	.	nonsynonymous SNV	TSSC4:NM_001297659:exon3:c.C184T:p.P62S,TSSC4:NM_005706:exon3:c.C184T:p.P62S,TSSC4:NM_001297658:exon4:c.C184T:p.P62S,TSSC4:NM_001297660:exon4:c.C184T:p.P62S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0223310335412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.19225	T	0.2	0.30926	T	0.713	0.42139	P	0.224	0.37970	B	0.232406	0.15891	U	0.531595	1	0.08975	N	1.465	0.36909	L	2.6	0.43279	T	-1.25	0.78135	N	0.075	0.04913	-1.0154	0.25207	T	0.094	0.35524	T	9	0.1193631	0.22587	T	0.022331	0.45207	T	0.033	0.08068	0.231	0.15855	0.152612264143	0.14878	0.08384527383467923	0.08318	0.111471321809	0.12582	0.475081622601	0.35380	T	0.011125	0.36815	T	-0.204238	0.20195	T	-0.53115	0.19171	T	0.186104193329811	0.19612	T	0.561544	0.19673	T	0.026545344	0.01725	0.03661266	0.03143	0.026545344	0.01725	0.03661266	0.03142	-3.31	0.13866	T	.	.	0.09	0.15609	B	.;.;.;.;.;.	.;.;.;.;.;.	1.609087	0.20566	14.81	0.99469674350936288	0.66259	0.06877	0.12903	N	AEFBCI	0.088071	0.17856	N	-0.407681335597537	0.25199	1.366	-0.547626135038346	0.20869	1.126341	0.999995441821331	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.37	2.35	0.28166	0.445000	0.21392	0.476000	0.18759	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5988:0.293:0.1083	6.959	0.23768	988	0.01987	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1349.43	35	chr11	2402817	.	C	T	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.476;DP=498;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.13;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1392	9	0	1	0
chr11	2407879	2407879	A	G	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon19:c.T2816C:p.L939P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0922840040594	.	.	0.0003	0	0	0	0	0	0.0022	0.0021	0.0002393	37	154602	rs775135124	0.0001	0.0001	4.357e-05	0.0002	0.0018	9.605e-05	9.084e-05	0.0016	0.0015	0	0	0	0	0	0	0	6.624e-05	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.022	0.58089	D	0.0	0.51611	B	0.002	0.54779	B	0.002777	0.35968	U	0.169340	0.999991	0.58761	D	1.1	0.28011	L	-0.6	0.71662	T	-2.19	0.49519	N	0.421	0.46086	-0.7991	0.55197	T	0.233	0.59916	T	10	0.031953484	0.01338	T	0.092284	0.75864	D	0.197	0.47942	0.585	0.71245	0.166414681773	0.16258	0.7816968519938516	0.78120	0.154650668509	0.17468	0.498502373695	0.38620	T	0.58277	0.86363	D	-0.405779	0.02121	T	-0.374665	0.36345	T	0.161418498929537	0.17976	T	0.646135	0.25753	T	0.37869307	0.59222	0.40320855	0.64782	0.37869307	0.59222	0.40320855	0.64782	-13.384	0.90883	D	.	.	0.082	0.14523	B	.;.;.;.	.;.;.;.	2.292603	0.29327	18.09	0.99005383026364269	0.50252	0.77661	0.38210	D	AEFDBI	0.575663	0.57796	D	-0.677843658545852	0.16654	0.8504254	-0.738254202770202	0.16012	0.844974	0.99158165999795	0.32538	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.56	2.42	0.28720	3.435000	0.52611	3.630000	0.39313	-0.065000	0.16512	0.998000	0.41325	1.000000	0.68203	0.007000	0.07825	0.8993:0.0:0.1007:0.0	8.032	0.29632	988	0.01987	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	983.43	35	chr11	2407879	.	A	G	983.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.841;DP=412;ExcessHet=0;FS=3.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.688;SOR=0.4	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1261	9	0	1	0
chr11	2412827	2412827	G	A	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon15:c.C2282T:p.P761L	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.749002440507	.	.	0.0005	0	0.0004	0	0	0.0001	0.0039	0.0024	0.0002652	41	154602	rs556364904	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	2.315e-05	0	0	0	0.0009	4.332e-05	0.0006	0.0028	0.0001	0.0001	6.423e-05	0.0002	0.0025	8.656e-05	7.249e-05	0.0014	0.0011	4.81e-05	0	0.0002	0	0	0	0	1.47e-05	0.0009	0.0025	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.075	0.87202	M	-0.64	0.72125	T	-5.09	0.82961	D	0.624	0.63968	0.139	0.84859	D	0.544	0.83213	D	10	0.038475126	0.02268	T	0.749002	0.97997	D	0.446	0.74797	0.37	0.38013	0.684252380218	0.68155	0.42957882695739485	0.42874	0.485256337644	0.47413	0.573685884476	0.49198	T	0.874578	0.97319	D	-0.268523	0.11922	T	-0.160912	0.58270	T	0.240165501650694	0.22427	T	0.855714	0.54342	D	0.42356393	0.62328	0.45104125	0.68058	0.42356393	0.62328	0.45104125	0.68058	-7.171	0.55273	T	.	.	0.161	0.35622	B	.;.;.;.	.;.;.;.	4.292572	0.65474	24.8	0.99743570604385356	0.83703	0.93110	0.57353	D	AEFBCI	0.900852	0.84686	D	0.376473054716891	0.60149	4.200827	0.170469501196412	0.48236	3.042339	0.999874878828382	0.44625	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.28	3.36	0.37579	7.548000	0.81103	8.271000	0.76889	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.554000	0.30269	0.0912:0.0:0.9088:0.0	11.290	0.48477	988	0.01987	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001011	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	3483.45	33	chr11	2412827	.	G	A	3483.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.261;DP=527;ExcessHet=0.7463;FS=1.474;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.936;SOR=0.604	GT:AD:DP:GQ:PL	0/1:36,47:83:99:1136,0,917	7	0	3	0
chr11	2922132	2922132	A	C	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon7:c.A601C:p.S201R,SLC22A18:NM_001315501:exon9:c.A1150C:p.S384R,SLC22A18:NM_002555:exon9:c.A895C:p.S299R,SLC22A18:NM_183233:exon9:c.A895C:p.S299R	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.379	0.123810989657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.799e-06	0	0	6.585e-06	6.568e-06	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.005	0.65419	D	0.006	0.70582	D	0.991	0.64070	D	0.932	0.66722	D	0.007938	0.31115	N	0.285831	0.999992	0.18198	N	2.39	0.68882	M	0.12	0.61677	T	-2.49	0.58733	N	0.662	0.67132	-0.6674	0.61946	T	0.320	0.68952	T	10	0.5095363	0.62016	D	0.123811	0.80505	D	0.379	0.69696	0.734	0.86719	0.809523646086	0.80774	0.7646512721006856	0.76414	0.419392534385	0.42491	0.421011865139	0.27975	T	0.109281	0.42303	T	0.0793129	0.61961	D	-0.123849	0.61486	T	0.935015141963959	0.60292	D	0.849515	0.58002	T	0.6209353	0.73813	0.502411	0.71236	0.6209353	0.73814	0.502411	0.71236	-10.882	0.79007	D	.	.	0.685	0.72360	P	.;.;.;.;.	.;.;.;.;.	4.177553	0.62865	24.5	0.9970913226816136	0.81213	0.68332	0.33762	D	AEFDBI	0.430620	0.49325	N	0.283157653127654	0.55293	3.693561	0.231581410128415	0.51609	3.341878	0.997107808072369	0.35279	0.660377	0.49826	0	0.694456	0.67091	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.56	4.56	0.55644	0.783000	0.26463	7.758000	0.68250	0.658000	0.54486	0.000000	0.06391	1.000000	0.68203	0.953000	0.50222	1.0:0.0:0.0:0.0	11.351	0.48826	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	739.43	33	chr11	2922132	.	A	C	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.729;DP=373;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.046;SOR=0.563	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1173	9	0	1	0
chr11	2922506	2922506	A	G	exonic	SLC22A18	.	nonsynonymous SNV	SLC22A18:NM_001315502:exon8:c.A743G:p.N248S,SLC22A18:NM_001315501:exon10:c.A1292G:p.N431S,SLC22A18:NM_002555:exon10:c.A1037G:p.N346S,SLC22A18:NM_183233:exon10:c.A1037G:p.N346S	Breast cancer, somatic;Lung cancer, somatic;Rhabdomyosarcoma, somatic	7	1512	3	0	0	3	0.00099108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.117548589647	7.7e-05	.	8.828e-06	0	0	0	0	0	0	6.478e-05	6.5e-06	1	154602	rs143509928	4.107e-06	4.104e-06	2.724e-06	5.504e-06	4.644e-05	1.48e-06	9.7e-07	1.584e-05	9.31e-06	0	0	0	0	0	0	8.994e-07	1.657e-05	4.644e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.26629	T	0.109	0.39190	T	0.097	0.38380	B	0.056	0.39801	B	0.005938	0.32398	N	0.288442	0.999995	0.08975	N	2.065	0.56745	M	-1.42	0.80645	T	-1.99	0.56945	N	0.466	0.51226	-0.7497	0.57951	T	0.345	0.70996	T	10	0.18368408	0.33707	T	0.117549	0.79735	D	0.244	0.55061	.	.	0.803246272748	0.80140	0.24764755615228815	0.24678	0.21105830166	0.23610	0.545429646969	0.45212	T	0.004715	0.04123	T	-0.00425815	0.51066	T	-0.243893	0.50417	T	0.177340939640999	0.19066	T	0.788921	0.44280	T	0.058431935	0.11754	0.058048602	0.10660	0.058431935	0.11753	0.058048602	0.10660	-4.131	0.25745	T	.	.	0.128	0.27373	B	.;.;.;.;.	.;.;.;.;.	1.266732	0.16649	12.68	0.97170742062610493	0.32673	0.60470	0.31205	D	AEFDBI	0.284379	0.39725	N	-0.299505146179327	0.29167	1.615113	-0.243187699455136	0.30007	1.685839	0.665632040532872	0.22319	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.75	3.63	0.40741	1.748000	0.37935	2.537000	0.33196	0.740000	0.86194	0.986000	0.36153	0.874000	0.27626	0.303000	0.24570	0.6296:0.1813:0.1891:0.0	4.035	0.09209	970	0.06235	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	508.43	39	chr11	2922506	.	A	G	508.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.369;DP=424;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.36;ReadPosRankSum=0.081;SOR=0.774	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr11	3361871	3361871	G	A	exonic	ZNF195	.	nonsynonymous SNV	ZNF195:NM_001130519:exon4:c.C245T:p.A82V,ZNF195:NM_001130520:exon4:c.C245T:p.A82V,ZNF195:NM_001242841:exon5:c.C257T:p.A86V,ZNF195:NM_001256824:exon5:c.C257T:p.A86V	.	436	1059	26	1	0	28	0.0130475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00129922044372	.	.	0.0050	0	0.005	0	0	0.0066	0	0.0053	0.0005886	91	154602	rs542961230	0.0016	0.0008	0.0015	0.0016	0.0057	0.0014	0.0014	0.0035	0.0028	0.0001	8.902e-05	0.0240	0.0002	0.0002	0.0057	0.0005	0.0022	0.0023	0.0009	0.0009	0.0008	0.0011	0.0017	0.0008	0.0008	0.0008	0.0006	0.0001	0.0011	0.0003	0.0225	0	0	0.0068	0.0005	0.0033	0.0017	0.554	0.07235	T	0.538	0.09829	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.01	0.25309	L	6.99	0.00458	T	0.05	0.08653	N	0.202	0.26354	-1.0187	0.24139	T	0.001	0.00222	T	8	0.0049428344	0.00106	T	0.001299	0.01809	T	0.024	0.04979	0.38	0.39645	0.377839696382	0.37399	0.013495007848525671	0.01307	0.221152819227	0.24661	0.320473700762	0.13493	T	0.00725	0.06665	T	-0.590949	0.00165	T	-0.626871	0.10653	T	0.0015679024322877	0.00016	T	0.745725	0.43272	T	0.02120178	0.00711	0.06336385	0.12541	0.02120178	0.00710	0.06336385	0.12540	-3.138	0.11738	T	.	.	0.295	0.55678	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.079809	0.03764	0.785	0.71102350513617507	0.09516	0.00431	0.02113	N	AEFDBI	0.038264	0.05388	N	-1.32935881474956	0.03344	0.1492021	-1.36866385330399	0.03591	0.1677997	0.00274969753692877	0.09676	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.225	0.225	0.14598	-0.755000	0.04887	-2.228000	0.04028	0.373000	0.20310	0.001000	0.13787	0.000000	0.08366	0.174000	0.21107	.	.	.	964	0.07719	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002183	0.000000	0.032609	0.017241	0.000000	0.045455	0.000000	0.000000	0.05	494.43	35	chr11	3361871	.	G	A	494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.179;DP=366;ExcessHet=0;FS=3.399;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.48;ReadPosRankSum=0.085;SOR=1.034	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1219	9	0	1	0
chr11	4488904	4488904	C	T	exonic	OR52K1	.	nonsynonymous SNV	OR52K1:NM_001005171:exon2:c.C4T:p.L2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0148460034166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.03354	T	0.779	0.04344	T	0.052	0.22494	B	0.033	0.22329	B	0.833192	0.06954	N	1.116690	0.999999	0.08975	N	0.635	0.15989	N	1.16	0.38073	T	-0.76	0.21215	N	0.071	0.04426	-0.9991	0.30171	T	0.037	0.15899	T	10	0.047613025	0.04102	T	0.014846	0.35231	T	0.045	0.12272	0.215	0.13498	0.0611884634855	0.05136	0.14371815121218293	0.14294	.	.	0.283620834351	0.08002	T	0.001751	0.01176	T	-0.288412	0.09796	T	-0.652061	0.08811	T	0.0666449882505786	0.08172	T	0.332567	0.07018	T	0.040492512	0.05791	0.03574162	0.02884	0.040492512	0.05790	0.03574162	0.02883	-4.337	0.28692	T	.	.	0.059	0.01059	B	.;.	.;.	-1.592832	0.00244	0.004	0.20019671462553745	0.00702	0.00621	0.02743	N	AEFBI	0.023867	0.01392	N	-1.71552709541866	0.00788	0.03404736	-1.84543066948755	0.00624	0.02775362	0.999441884986545	0.39736	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	-8.76	0.00718	-4.492000	0.00259	.	.	-0.811000	0.03066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4067:0.2121:0.1944:0.1868	0.705	0.00856	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	354.06	81	chr11	4488904	.	C	T	354.06	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.926;DP=903;ExcessHet=2.8389;FS=192.49;InbreedingCoeff=-0.3214;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.25;SOR=11.326	GT:AD:DP:GQ:PL	0/0:50,0:60:46:0,138,950	7	0	3	0
chr11	4545230	4545230	T	-	exonic	OR52M1	.	frameshift deletion	OR52M1:NM_001004137:exon1:c.40delT:p.F14Sfs*32	.	429	1053	39	1	0	41	0.0190964	.	.	.	3221646	OR52M1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0077	0.0181709	0.0084	0.0203	0.0027	0.0488	0	0.0005	0.0046	0.0211	0.001191	31	26028	rs77893620	0.0035	0.0035	0.0031	0.0040	0.0361	0.0035	0.0034	0.0345	0.0339	0.0230	0.0025	0.0002	0.0361	0	0.0064	0.0007	0.0077	0.0186	0.0091	0.0091	0.0088	0.0093	0.0445	0.0087	0.0085	0.0398	0.0380	0.0218	0	0.0052	0	0.0445	0	0	0.0006	0.0104	0.0214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009567	0.000000	0.005435	0.014620	0.000000	0.008621	0.009146	0.018939	0.05	778.39	69	chr11	4545229	.	CT	C	778.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.835;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.228;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	9	0	1	0
chr11	4545686	4545686	C	T	exonic	OR52M1	.	nonsynonymous SNV	OR52M1:NM_001004137:exon1:c.C496T:p.R166C	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.00819569020033	.	0.00179712	0.0007	9.619e-05	0	0.0001	0.0002	4.521e-05	0	0.0051	0.0006468	100	154602	rs201510674	0.0003	0.0003	0.0002	0.0005	0.0049	0.0003	0.0003	0.0045	0.0043	5.981e-05	4.48e-05	0	0.0001	0	0	1.71e-05	0.0003	0.0049	0.0002	0.0002	0.0002	0.0003	0.0071	0.0002	0.0002	0.0052	0.0046	2.408e-05	0	0	0	0	0	0	1.47e-05	0	0.0071	0.009	0.57480	D	0.001	0.83351	D	0.999	0.77913	D	0.912	0.64797	D	0.005884	0.32428	N	0.142760	0.831551	0.34926	D	0	0.06538	N	8.66	0.00139	T	-3.04	0.62863	D	0.174	0.18649	-0.4429	0.70634	T	0.001	0.00348	T	10	0.008294165	0.00188	T	0.008196	0.21725	T	0.138	0.37187	.	.	0.687275677094	0.68460	0.3403023397565937	0.33943	.	.	0.191672056913	0.00256	T	0.048879	0.28145	T	-0.508198	0.00514	T	-0.502089	0.22132	T	0.101293130212867	0.12499	T	0.618038	0.23687	T	0.15412952	0.34902	0.113189064	0.27315	0.15412952	0.34902	0.113189064	0.27314	-6.781	0.52418	T	.	.	0.191	0.41016	B	.	.	3.087990	0.41569	21.4	0.99921861535109602	0.98787	0.20286	0.20984	N	AEFBI	0.259781	0.37806	N	0.201085377063605	0.51251	3.307956	0.0708622003898959	0.43090	2.618118	0.00337745803191235	0.10082	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.98	3.03	0.34070	-0.951000	0.03995	.	.	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.821000	0.38685	0.0:0.6425:0.1629:0.1946	5.771	0.17519	800	0.44535	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2521.43	86	chr11	4545686	.	C	T	2521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=808;ExcessHet=0;FS=9.303;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=0.229;SOR=0.795	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	9	0	1	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.15	7130.45	125	chr11	4653052	.	A	G	7130.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.26;DP=1515;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.512;SOR=0.705	GT:AD:DP:GQ:PL	0/1:97,111:208:99:2793,0,2293	7	0	3	0
chr11	4923436	4923436	G	A	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.C904T:p.R302C	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	.	0.0034	0.00379393	0.0040	0.0015	0.0003	0.0001	0.0009	0.0039	0.0036	0.0143	0.0041138	636	154602	rs144243455	0.0055	0.0055	0.0054	0.0056	0.0113	0.0054	0.0054	0.0107	0.0104	0.0009	0.0006	0.0003	5.069e-05	0.0014	0.0005	0.0061	0.0030	0.0113	0.0030	0.0030	0.0033	0.0028	0.0122	0.0028	0.0027	0.0097	0.0088	0.0009	0	0.0003	0.0003	0	0.0008	0	0.0052	0.0009	0.0122	.	.	.	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.002652	0.36173	U	0.000000	1	0.81001	D	2.515	0.73286	M	.	.	.	.	.	.	.	.	-0.6578	0.62373	T	0.199	0.55428	T	10	0.005875498	0.00132	T	.	.	.	.	.	.	.	.	.	0.5236365897817877	0.52287	.	.	0.276998579502	0.07078	T	0.118232	0.43889	T	-0.286632	0.09977	T	-0.175108	0.56975	T	0.0762557249681863	0.09501	T	0.844016	0.52137	T	0.32483926	0.55045	0.18967238	0.42327	0.32483926	0.55045	0.18967238	0.42326	-5.618	0.42956	T	.	.	0.101	0.17360	B	.	.	2.804916	0.36911	20.4	0.99903601541911302	0.97502	0.19977	0.20868	N	AEFBI	0.204006	0.33047	N	0.14591432350684	0.48618	3.071928	0.00939647000396068	0.40151	2.391595	7.44877031399563E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.39	3.45	0.38602	1.352000	0.33637	.	.	-1.495000	0.01039	0.014000	0.18986	0.000000	0.08366	0.050000	0.15192	0.0:0.0:0.6111:0.3889	9.345	0.37265	743	0.52768	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1422.43	33	chr11	4923436	.	G	A	1422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.4;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.034;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	9	0	1	0
chr11	4923523	4923523	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G817A:p.V273I	.	.	.	.	.	.	.	.	.	.	.	3577872	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.00221160723786	.	.	5.768e-05	0	0.0003	0	0	4.498e-05	0	6.056e-05	6.47e-05	10	154602	rs565245626	7.114e-05	7.114e-05	6.806e-05	7.425e-05	0.0004	5.98e-05	5.588e-05	0.0003	0.0002	8.961e-05	0.0002	0	0.0004	0	0.0002	6.115e-05	6.623e-05	4.637e-05	7.887e-05	7.877e-05	6.429e-05	9.411e-05	0.0002	4.498e-05	3.513e-05	3.246e-05	1.912e-05	9.638e-05	0	0.0001	0	0.0002	0	0.0068	2.941e-05	0.0005	0	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.661196	0.05980	N	1.246050	1	0.08975	N	0.305	0.10234	N	.	.	.	.	.	.	.	.	-1.0994	0.04164	T	0.000	0.00075	T	10	0.05015129	0.04707	T	0.002212	0.04178	T	.	.	.	.	.	.	0.037352443710001515	0.03682	.	.	0.183710962534	0.00133	T	3.24E-4	0.00087	T	-0.606992	0.00132	T	-0.854633	0.00903	T	0.00407355294866821	0.00043	T	0.0116988	0.00063	T	0.02787516	0.02041	0.041036353	0.04573	0.02787516	0.02041	0.041036353	0.04573	-3.908	0.22423	T	.	.	0.077	0.06479	B	.	.	-0.357399	0.02376	0.261	0.68234355340962372	0.08596	0.01166	0.04198	N	AEFBI	0.031576	0.03406	N	-1.55255883039602	0.01520	0.06636163	-1.5450096512192	0.02010	0.0918644	1.80065145796732E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	-0.713	0.10657	-0.417000	0.07153	.	.	-2.809000	0.00183	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1208:0.1639:0.1236:0.5917	2.669	0.04749	743	0.52768	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.05	1726.43	33	chr11	4923523	.	C	T	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.183;DP=560;ExcessHet=0;FS=2.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.368;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1069	9	0	1	0
chr11	4923931	4923931	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G409A:p.V137I	.	415	1090	17	0	0	17	0.00773782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0032	0.00379393	0.0027	0.0081	0.0016	0.0002	0	0.0002	0.0066	0.0122	0.0023997	371	154602	rs145607331	0.0011	0.0011	0.0008	0.0015	0.0119	0.0011	0.0011	0.0113	0.0111	0.0072	0.0015	0.0004	5.039e-05	0	0.0036	0.0002	0.0021	0.0119	0.0033	0.0033	0.0033	0.0033	0.0119	0.0031	0.0030	0.0094	0.0085	0.0093	0	0.0026	0	0	0	0	0.0002	0.0024	0.0119	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.200551	0.16611	N	0.437363	0.970807	0.25685	N	-1.29	0.00724	N	.	.	.	.	.	.	.	.	-1.0038	0.28814	T	0.006	0.01907	T	10	0.011270016	0.00247	T	.	.	.	.	.	.	.	.	.	0.12785814721803207	0.12710	.	.	0.21312341094	0.00951	T	2.86E-4	0.00069	T	-0.787337	0.00010	T	-0.893344	0.00550	T	0.00573077374390745	0.00063	T	0.354964	0.08031	T	0.01774362	0.00299	0.03550361	0.02815	0.01774362	0.00299	0.03550361	0.02815	-1.032	0.01035	T	.	.	0.069	0.03128	B	.	.	-1.391376	0.00366	0.007	0.53104431938590912	0.04875	0.01281	0.04472	N	AEFGBI	0.037579	0.05190	N	-2.35276002061783	0.00035	0.001487029	-2.32492563772922	0.00058	0.002563659	0.352579824946261	0.19697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-8.41	0.00840	-2.223000	0.01297	.	.	-2.793000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1062:0.0998:0.794	12.105	0.53106	744	0.52588	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.026515	0.1	4089.14	33	chr11	4923931	.	C	T	4089.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.382;DP=897;ExcessHet=0.2348;FS=0.846;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.02;SOR=0.766	GT:AD:DP:GQ:PL	0/1:64,79:143:99:1895,0,1396	8	0	2	0
chr11	5070094	5070094	C	T	exonic	OR52E1	.	unknown	UNKNOWN	.	858	650	14	0	0	14	0.0106545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0076	0	0.0142	0	0.0046	0.0084	0	0.0299	0.0012807	198	154602	rs570789731	0.0028	0.0016	0.0028	0.0029	0.0135	0.0027	0.0026	0.0087	0.0072	0.0001	0.0011	0.0261	0	0.0007	0.0135	0.0022	0.0036	0.0068	0.0020	0.0020	0.0020	0.0020	0.0083	0.0018	0.0017	0.0063	0.0056	0.0005	0	0.0009	0.0213	0	0.0006	0.0136	0.0020	0.0047	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4377.14	168	chr11	5070094	.	C	T	4377.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.005;DP=853;ExcessHet=0.2348;FS=6.949;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.551;SOR=0.967	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	8	0	2	0
chr11	5342819	5342819	G	C	exonic	OR51B5	.	nonsynonymous SNV	OR51B5:NM_001005567:exon5:c.C706G:p.L236V	.	436	1059	23	4	0	31	0.0144253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00581998553089	0.0019	0.000599042	0.0025	0.0006	0.0012	0	0.0012	0.0026	0.0033	0.0063	0.002348	363	154602	rs140543559	0.0029	0.0029	0.0028	0.0029	0.0068	0.0028	0.0028	0.0064	0.0062	0.0003	0.0009	0.0007	2.519e-05	0.0012	0.0066	0.0030	0.0027	0.0068	0.0019	0.0019	0.0017	0.0021	0.0068	0.0017	0.0016	0.0050	0.0044	0.0005	0	0.0016	0.0009	0	0.0015	0.0068	0.0027	0.0024	0.0068	0.02	0.49613	D	0.018	0.59732	D	0.997	0.70673	D	0.968	0.71741	D	0.177258	0.17202	N	0.415917	1	0.81001	D	2.785	0.81254	M	8.65	0.00144	T	-2.53	0.54864	D	0.11	0.09631	-0.9521	0.40608	T	0.001	0.00438	T	10	0.005307317	0.00116	T	0.00582	0.15131	T	0.130	0.35528	.	.	0.274366138417	0.27033	0.022311389364349156	0.02183	0.0136984243272	0.01312	0.18676237762	0.00173	T	0.009763	0.08869	T	-0.56003	0.00254	T	-0.573635	0.15117	T	0.0331144742684216	0.02490	T	0.961004	0.85375	D	0.092088416	0.21594	0.17780884	0.40407	0.092088416	0.21594	0.17780884	0.40407	-6.222	0.48101	T	.	.	0.124	0.26010	B	.	.	1.331477	0.17365	13.12	0.99798359245562285	0.88372	0.44720	0.27380	N	AEFGBI	0.307269	0.41419	N	0.166970966708866	0.49619	3.16022	-0.00928002046424085	0.39294	2.327644	0.0308478271183786	0.13968	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.92	2.06	0.25932	-1.192000	0.03161	.	.	-0.742000	0.03659	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.4306:0.0:0.5694:0.0	7.043	0.24212	870	0.31527	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	3126.43	36	chr11	5342819	.	G	C	3126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.758;DP=546;ExcessHet=0;FS=0.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.535;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	9	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	583.44	162	chr11	5351792	.	C	G	583.44	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-4.84;DP=1627;ExcessHet=0.7463;FS=376.01;InbreedingCoeff=-0.2619;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.472;SOR=11.492	GT:AD:DP:GQ:PL	./.:133,0:133:0:0,0,3632	5	0	3	2
chr11	5403455	5403455	C	G	exonic	OR51J1	.	nonsynonymous SNV	OR51J1:NM_001348224:exon1:c.C859G:p.P287A	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.00602851237431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.394e-06	4.771e-06	7.195e-06	1.109e-05	3.348e-05	2.5e-06	6.9e-07	5.55e-06	2.08e-06	0	0	0	0	0	0	0	6.907e-05	3.348e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1878.43	172	chr11	5403455	.	C	G	1878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.282;DP=936;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.607;SOR=0.738	GT:AD:DP:GQ:PL	0/0:58,0:58:99:0,120,1800	9	0	1	0
chr11	5454368	5454368	G	A	exonic	OR51I2	.	nonsynonymous SNV	OR51I2:NM_001004754:exon1:c.G880A:p.A294T	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0110459718147	0.0058	0.00259585	0.0053	0.0012	0.0023	0.0003	0.0051	0.0080	0.0033	0.0019	0.005194	803	154602	rs139102367	0.0068	0.0068	0.0070	0.0066	0.0133	0.0067	0.0066	0.0109	0.0101	0.0013	0.0029	0.0002	0.0013	0.0058	0.0133	0.0079	0.0065	0.0022	0.0054	0.0054	0.0057	0.0051	0.0081	0.0051	0.0050	0.0075	0.0073	0.0018	0	0.0080	0	0.0006	0.0043	0.0136	0.0081	0.0066	0.0017	0.018	0.50676	D	0.01	0.65728	D	0.008	0.14655	B	0.003	0.08700	B	0.002895	0.35770	N	0.197073	0.983774	0.40057	D	1.27	0.32069	L	1.22	0.37052	T	-0.1	0.08495	N	0.174	0.18649	-1.0122	0.26228	T	0.057	0.24130	T	10	0.0054678023	0.00121	T	0.011046	0.28270	T	0.059	0.16972	.	.	0.202086224978	0.19791	0.05591651426033309	0.05532	0.0085942019034	0.00777	0.201415508986	0.00499	T	0.00103	0.00564	T	-0.5777	0.00199	T	-0.595353	0.13205	T	0.00633887358148472	0.00070	T	0.649435	0.26018	T	0.087157644	0.20285	0.19217558	0.42717	0.087157644	0.20285	0.19217558	0.42716	-4.455	0.30296	T	.	.	0.098	0.16319	B	.;.	.;.	1.943272	0.24685	16.49	0.90722555318189568	0.19972	0.29547	0.23850	N	AEFBCI	0.249450	0.36968	N	-0.832554428285813	0.12483	0.608775	-0.772966009526977	0.15159	0.7958556	0.963517943279825	0.28696	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.45	3.61	0.40494	-1.068000	0.03558	.	.	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.249:0.0:0.751:0.0	7.716	0.27872	697	0.58201	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.015152	0.002717	0.020468	0.050000	0.017241	0.009146	0.000000	0.05	2405.43	37	chr11	5454368	.	G	A	2405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.65;DP=529;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=1.05;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,102,1530:.	9	0	1	0
chr11	5507629	5507629	C	T	exonic	UBQLN3	.	nonsynonymous SNV	UBQLN3:NM_001347096:exon2:c.G1930A:p.D644N,UBQLN3:NM_017481:exon2:c.G1930A:p.D644N	.	436	1079	7	0	0	7	0.00323326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.00838658	0.0048	9.789e-05	0.0008	0	0	9.133e-05	0.0034	0.0362	0.0040426	625	154602	rs200545596	0.0021	0.0021	0.0012	0.0031	0.0335	0.0021	0.0021	0.0325	0.0321	0.0002	0.0001	0	7.56e-05	0	0.0005	5.94e-05	0.0026	0.0335	0.0013	0.0013	0.0007	0.0019	0.0378	0.0011	0.0011	0.0333	0.0316	4.812e-05	0	0	0	0	9.42e-05	0	8.82e-05	0.0005	0.0378	0.026	0.46910	D	0.04	0.50809	D	0.634	0.40281	P	0.2	0.36839	B	0.002457	0.36537	N	0.122533	1	0.81001	D	0.41	0.12415	N	2.25	0.17761	T	-4.28	0.76334	D	0.244	0.27554	-1.0293	0.20681	T	0.030	0.13023	T	10	0.0070008636	0.00159	T	.	.	.	0.090	0.26093	.	.	0.365509141856	0.36162	0.49459139867246676	0.49380	0.0211555233201	0.02094	0.398621231318	0.24877	T	0.025852	0.19251	T	-0.634952	0.00089	T	-0.659079	0.08329	T	0.0755802667233008	0.09413	T	0.988501	0.96026	D	0.13215485	0.30781	0.13410978	0.32144	0.13215485	0.30781	0.13410978	0.32143	-4.002	0.23834	T	.	.	0.097	0.15698	B	.	.	2.280723	0.29163	18.03	0.99810393216649662	0.89442	0.80349	0.40010	D	AEFBCI	0.332261	0.43173	N	-0.212619518028817	0.32616	1.841296	-0.218118232080288	0.30887	1.742984	0.999998539221495	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.14	3.27	0.36580	2.818000	0.47741	.	.	-0.190000	0.09434	0.988000	0.36536	0.546000	0.25442	0.033000	0.13494	0.0:0.8797:0.0:0.1203	10.955	0.46564	682	0.59757	Ubiquitin-associated domain|Ubiquitin-associated domain|Ubiquitin-associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1760.43	33	chr11	5507629	.	C	T	1760.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=449;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.896;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1032	9	0	1	0
chr11	5610560	5610560	G	C	exonic	TRIM6;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM6:NM_001198645:exon5:c.G375C:p.W125C,TRIM6:NM_001198644:exon6:c.G375C:p.W125C,TRIM6:NM_001003818:exon7:c.G984C:p.W328C,TRIM6-TRIM34:NM_001003819:exon7:c.G984C:p.W328C,TRIM6:NM_058166:exon7:c.G900C:p.W300C	.	.	.	.	.	.	.	.	0.0003	0.028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.196057754184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.423e-06	3.42e-06	2.724e-06	4.128e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	2.989e-05	0	0	0	0	0.0002	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.008	0.72224	D	0.979	0.77913	D	0.533	0.67150	P	.	.	.	.	1	0.81001	D	2.41	0.69639	M	3.59	0.67187	T	-10.69	0.99239	D	0.7	0.72567	-0.1680	0.78477	T	0.434	0.77478	T	9	0.71860313	0.73511	D	0.196058	0.86457	D	0.238	0.54217	0.503	0.59615	0.546607571196	0.54314	0.35940547745099144	0.35854	0.250867766051	0.27665	0.561135649681	0.47428	T	0.073569	0.34730	T	0.18788	0.72768	D	0.0320996	0.72414	D	0.97719419002533	0.71729	D	0.974702	0.91107	D	0.6945267	0.77758	0.62944734	0.78388	0.6945267	0.77759	0.62944734	0.78388	-8.593	0.65043	D	.	.	0.825	0.78462	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.099787	0.85202	28.5	0.98057430244660648	0.37921	0.90489	0.51708	D	AEFGBI	0.479956	0.52188	N	0.267699042838215	0.54520	3.617294	0.176054909705904	0.48539	3.068429	0.998957179683453	0.38059	0.706548	0.73137	0	0.53679	0.11191	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.19	3.28	0.36691	2.764000	0.47295	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1087:0.0:0.8913:0.0	8.108	0.30057	840	0.37365	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;.;.;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1888.43	73	chr11	5610560	.	G	C	1888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.128;DP=836;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-0.789;SOR=0.795	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	9	0	1	0
chr11	5610891	5610891	A	G	exonic	TRIM6	.	nonsynonymous SNV	TRIM6:NM_001198645:exon6:c.A491G:p.H164R,TRIM6:NM_001198644:exon7:c.A491G:p.H164R,TRIM6:NM_001003818:exon8:c.A1100G:p.H367R,TRIM6:NM_058166:exon8:c.A1016G:p.H339R	.	428	1079	15	0	0	15	0.0069029	.	.	.	2816386	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.269	0.0165565714444	0.0042	0.00279553	0.0041	0.0003	0.0011	0	0.0011	0.0047	0.0033	0.0096	0.004172	645	154602	rs150778640	0.0049	0.0050	0.0047	0.0052	0.0105	0.0049	0.0048	0.0100	0.0097	0.0008	0.0015	0.0042	2.519e-05	0.0022	0.0052	0.0052	0.0041	0.0105	0.0035	0.0035	0.0037	0.0033	0.0075	0.0032	0.0031	0.0055	0.0049	0.0009	0	0.0037	0.0052	0	0.0024	0.0068	0.0051	0.0043	0.0075	0.261	0.16520	T	0.365	0.16717	T	0.183	0.32056	B	0.08	0.35019	B	.	.	.	.	1	0.81001	D	0.99	0.25021	L	0.19	0.60236	T	-2.19	0.51478	N	0.323	0.52829	-0.9896	0.32702	T	0.086	0.33578	T	9	0.0035454333	0.00064	T	0.016557	0.37875	T	0.269	0.58381	.	.	0.488477830397	0.48481	0.2800098865010619	0.27913	0.0303965938955	0.03144	.	.	.	0.03843	0.24835	T	-0.314588	0.07350	T	-0.216699	0.53054	T	0.00727755690066316	0.00083	T	0.566543	0.20051	T	0.077372424	0.17556	0.10796933	0.26002	0.077372424	0.17555	0.10796933	0.26001	-3.393	0.15987	T	.	.	0.095	0.17488	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.656980	0.21132	15.07	0.93254084876461463	0.22945	0.67086	0.33306	D	AEBI	0.440799	0.49922	N	-0.292504587323983	0.29436	1.632402	-0.188000244023674	0.31976	1.814745	0.998643737483849	0.37371	0.732398	0.92422	0	0.659037	0.61890	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.2	4.2	0.48814	1.459000	0.34844	.	.	0.691000	0.84096	0.002000	0.15269	0.019000	0.20708	0.860000	0.40782	0.8026:0.0:0.0:0.1974	7.229	0.25205	840	0.37365	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain;.;.;.;.;Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY-associated|TRIM6, PRY/SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003528	0.000000	0.001359	0.002941	0.000000	0.000000	0.006098	0.015152	0.05	1923.43	73	chr11	5610891	.	A	G	1923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.391;DP=878;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-2.096;SOR=0.888	GT:AD:DP:GQ:PL	0/0:95,0:95:99:0,120,1800	9	0	1	0
chr11	5736889	5736889	C	G	exonic	OR56B1	.	nonsynonymous SNV	OR56B1:NM_001005180:exon1:c.C373G:p.L125V	.	428	1091	2	1	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00499201	0.0033	0	8.717e-05	0	0	2.999e-05	0.0022	0.0240	0.0028137	435	154602	rs199733222	0.0014	0.0014	0.0008	0.0020	0.0215	0.0013	0.0013	0.0207	0.0203	5.974e-05	2.239e-05	0	2.521e-05	5.617e-05	0.0007	4.137e-05	0.0020	0.0215	0.0007	0.0007	0.0003	0.0011	0.0210	0.0006	0.0006	0.0176	0.0164	0	0	0	0	0	9.423e-05	0	5.881e-05	0.0009	0.0210	0.257	0.16738	T	0.283	0.21478	T	0.034	0.20480	B	0.05	0.25278	B	0.001155	0.40056	U	0.000000	0.956305	0.26303	N	0.665	0.16292	N	8.16	0.00284	T	-1.45	0.35597	N	0.126	0.11912	-0.9990	0.30199	T	0.001	0.00222	T	10	0.0045159757	0.00093	T	.	.	.	0.086	0.25016	0.52	0.62217	0.136095386433	0.13204	0.06898596960187361	0.06836	.	.	0.176439806819	0.00066	T	0.010935	0.09820	T	-0.59529	0.00156	T	-0.610284	0.11962	T	0.0245600516056853	0.01216	T	0.623338	0.24021	T	0.103497215	0.24462	0.106915556	0.25730	0.103497215	0.24462	0.106915556	0.25729	-3.873	0.21898	T	.	.	0.159	0.35098	B	.	.	-0.059148	0.03892	0.852	0.96217124139692989	0.29075	0.07628	0.13636	N	AEFGBI	0.079121	0.15975	N	-0.551171561374211	0.20447	1.077941	-0.467672504592501	0.23049	1.255031	0.986517672045379	0.31077	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.91	4.02	0.45968	-2.068000	0.01470	.	.	0.569000	0.28856	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0:0.7822:0.1411:0.0767	9.795	0.39894	823	0.40596	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.007576	0.05	2923.43	40	chr11	5736889	.	C	G	2923.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.402;DP=802;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.969;SOR=0.548	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr11	5737265	5737265	G	C	exonic	OR56B1	.	nonsynonymous SNV	OR56B1:NM_001005180:exon1:c.G749C:p.C250S	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0197760102374	.	0.000399361	0.0009	0	0	0	0	0	0	0.0069	0.0007568	117	154602	rs374174730	0.0005	0.0005	0.0002	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	0	0	0	0	0	0.0002	2.698e-06	0.0004	0.0077	0.0002	0.0002	6.423e-05	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0	0.0056	0.001	0.78490	D	0.0	0.92824	D	0.996	0.68779	D	0.967	0.71530	D	0.000391	0.44960	U	0.000000	1	0.81001	D	4.07	0.97156	H	7.74	0.00341	T	-9.7	0.98602	D	0.753	0.75192	-1.0436	0.16236	T	0.006	0.02055	T	10	0.03259206	0.01414	T	0.019776	0.42228	T	0.336	0.65816	0.694	0.83126	0.608821576771	0.60568	0.2114002379579671	0.21056	.	.	0.337773084641	0.16105	T	0.014623	0.12415	T	-0.218811	0.18155	T	-0.0827987	0.64699	T	0.474219232797623	0.31686	T	0.941706	0.78221	D	0.9784799	0.98991	0.96147174	0.99050	0.9784799	0.98991	0.96147174	0.99051	-8.593	0.65043	D	.	.	0.441	0.61775	A	.	.	3.816588	0.55084	23.6	0.99399783309897893	0.62748	0.99055	0.90567	D	AEFDGBIJ	0.854131	0.77114	D	0.992846607394936	0.95520	13.69892	0.902100741872502	0.95662	13.84192	0.999999970192333	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.87	5.87	0.94266	6.581000	0.73936	.	.	0.641000	0.52212	1.000000	0.71638	1.000000	0.68203	0.890000	0.42831	0.0:0.0:1.0:0.0	17.703	0.88205	823	0.40596	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1748.43	40	chr11	5737265	.	G	C	1748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.05;DP=589;ExcessHet=0;FS=1.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.585;SOR=0.814	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr11	5856952	5856952	C	T	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.G751A:p.G251S	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00866060324559	.	.	6.708e-05	0	8.754e-05	0	0	3.021e-05	0	0.0003	5.17e-05	8	154602	rs772802955	2.883e-05	2.874e-05	2.185e-05	3.587e-05	0.0009	2.159e-05	1.914e-05	0.0003	0.0002	0	0	0	0	0	0.0009	9.906e-06	6.656e-05	0.0003	2.035e-05	1.994e-05	0	4.17e-05	0.0002	5.41e-06	2.5e-06	.	.	0	0	6.656e-05	0	0	0	0	1.474e-05	0	0.0002	0.038	0.42783	D	0.081	0.41742	T	0.005	0.12996	B	0.014	0.16862	B	0.024598	0.26236	N	0.325195	1	0.08975	N	0.395	0.12235	N	1.23	0.36872	T	0.53	0.02808	N	0.084	0.06059	-1.0503	0.14313	T	0.048	0.20315	T	10	0.06550974	0.08850	T	0.008661	0.22878	T	0.030	0.07022	0.467	0.53891	0.110078149338	0.10416	0.20002347685955305	0.19919	0.00297416347978	0.00257	0.182556480169	0.00120	T	9.78E-4	0.00517	T	-0.478074	0.00759	T	-0.622775	0.10968	T	0.368437200784683	0.27737	T	0.752925	0.37500	T	0.07274225	0.16204	0.06896744	0.14471	0.07274225	0.16203	0.06896744	0.14471	-2.499	0.05774	T	.	.	0.097	0.15921	B	.	.	-0.294018	0.02643	0.335	0.92745811466875849	0.22251	0.10795	0.16198	N	AEFI	0.151546	0.27605	N	-0.867087704025955	0.11632	0.5623966	-0.866059856647842	0.12902	0.6663626	1.66652266131376E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	-0.0605	0.13120	-2.678000	0.00911	.	.	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3355:0.4878:0.0:0.1767	5.157	0.14369	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	2154.14	34	chr11	5856952	.	C	T	2154.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.45;DP=496;ExcessHet=0.2348;FS=1.156;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.069;SOR=0.572	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1182,0,1491	8	0	2	0
chr11	5857379	5857379	G	C	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.C324G:p.F108L	.	427	1061	33	1	0	35	0.0162262	.	.	.	2816389	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.130	0.0250156923971	0.0040	0.00239617	0.0042	0.0012	0.0021	0	0.0017	0.0063	0.0066	0.0021	0.0039456	610	154602	rs148345924	0.0040	0.0040	0.0039	0.0041	0.0123	0.0039	0.0038	0.0100	0.0092	0.0009	0.0023	0.0336	0	0.0017	0.0123	0.0036	0.0064	0.0023	0.0037	0.0037	0.0040	0.0034	0.0045	0.0034	0.0033	0.0038	0.0037	0.0008	0.0011	0.0045	0.0351	0	0.0016	0.0136	0.0042	0.0062	0.0014	0.004	0.65419	D	0.004	0.74150	D	0.338	0.33405	B	0.216	0.37572	B	0.000021	0.62929	D	0.000000	1	0.81001	D	2.73	0.79844	M	7.57	0.00366	T	-5.58	0.86450	D	0.344	0.38541	-0.8344	0.53015	T	0.001	0.00378	T	10	0.0054122508	0.00119	T	0.025016	0.48002	D	0.130	0.35528	0.323	0.30387	0.176091768786	0.17195	0.08784436847178947	0.08717	0.00376051316939	0.00325	0.270828843117	0.06249	T	0.009394	0.08559	T	-0.519226	0.00445	T	-0.517655	0.20533	T	0.0639543417605828	0.07775	T	0.732627	0.34815	T	0.69594866	0.77835	0.6118418	0.77417	0.69594866	0.77837	0.6118418	0.77418	-8.538	0.64680	D	.	.	0.773	0.76045	P	.	.	2.057648	0.26162	17.02	0.99877145999454897	0.95410	0.44575	0.27348	N	AEFI	0.345156	0.44041	N	-0.126603212154015	0.36235	2.091855	-0.161731560699526	0.32959	1.880391	3.89146647494055E-4	0.06781	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.24	4.24	0.49486	0.171000	0.16497	.	.	0.649000	0.52879	0.050000	0.21411	0.000000	0.08366	0.016000	0.10718	0.0987:0.0:0.9013:0.0	10.307	0.42866	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015641	0.005051	0.023098	0.014881	0.000000	0.017241	0.012195	0.003788	0.05	2265.43	34	chr11	5857379	.	G	C	2265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.941;DP=524;ExcessHet=0;FS=1.128;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=1.43;SOR=0.791	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,99,1485	9	0	1	0
chr11	5947360	5947360	G	A	exonic	OR56A3	.	nonsynonymous SNV	OR56A3:NM_001003443:exon1:c.G14A:p.R5Q	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00129720905383	7.8e-05	.	0.0003	0	0.0024	0	0	1.534e-05	0	0	0.000194	30	154602	rs372649269	6.992e-05	7.524e-05	7.966e-05	6.002e-05	0.0014	5.849e-05	5.456e-05	0.0011	0.0010	6.083e-05	0.0014	0.0004	0	0	0	2.27e-05	6.723e-05	2.346e-05	8.543e-05	8.538e-05	0.0001	5.381e-05	0.0003	4.958e-05	3.963e-05	8.88e-05	5.388e-05	7.238e-05	0	0.0003	0	0.0002	0	0	5.88e-05	0	0.0002	1.0	0.00964	T	0.675	0.06205	T	0.0	0.02946	B	0.0	0.01387	B	0.933004	0.07547	N	1.034940	1	0.08975	N	-0.145	0.04423	N	1.2	0.37405	T	0.58	0.02598	N	0.017	0.00226	-1.0052	0.28397	T	0.037	0.16160	T	10	0.012346774	0.00266	T	0.001297	0.01809	T	0.022	0.04323	.	.	0.276065633971	0.27208	0.13950535766227104	0.13873	0.093218127879	0.10534	0.21162211895	0.00882	T	0.018335	0.14797	T	-0.657004	0.00066	T	-0.735531	0.04081	T	0.0260538466175855	0.01413	T	0.40026	0.10182	T	0.017643455	0.00290	0.027518827	0.00911	0.017643455	0.00290	0.027518827	0.00911	-3.632	0.18321	T	.	.	0.073	0.04599	B	.;.;.	.;.;.	-0.827932	0.01053	0.045	0.65405615504754644	0.07763	0.00663	0.02868	N	AEFBI	0.035453	0.04568	N	-1.49574698123251	0.01880	0.08246946	-1.54299578586319	0.02025	0.09252993	4.1948078486619E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	-5.52	0.02358	-1.237000	0.03032	.	.	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3543:0.1407:0.5049:0.0	8.137	0.30221	708	0.56926	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1363.43	33	chr11	5947360	.	G	A	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=445;ExcessHet=0;FS=1.398;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.786;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	9	0	1	0
chr11	6170163	6170163	C	T	exonic	OR52B2	.	nonsynonymous SNV	OR52B2:NM_001004052:exon1:c.G164A:p.R55H	.	428	1092	2	0	0	2	0.000914913	.	.	.	2365283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	0.00334289318155	0.0002	0.000199681	0.0002	0	8.687e-05	0	0	0.0001	0	0.0010	0.0001811	28	154602	rs201572583	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0007	0	2.237e-05	0	0.0001	1.873e-05	0.0014	8.455e-05	0.0003	0.0009	0.0001	0.0001	0.0001	8.063e-05	0.0002	6.513e-05	5.324e-05	0.0001	7.895e-05	2.413e-05	0	6.539e-05	0	0	0	0	0.0002	0.0005	0.0002	0.408	0.10212	T	0.514	0.10678	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.165	0.29723	L	7.42	0.00404	T	-1.06	0.27669	N	0.074	0.04790	-1.0286	0.20908	T	0.001	0.00255	T	9	0.009037197	0.00205	T	0.003343	0.07451	T	0.026	0.05648	.	.	0.0920862733494	0.08535	0.2090392078702674	0.20819	0.0366361011954	0.03876	0.164180845022	0.00016	T	0.004959	0.04384	T	-0.668554	0.00056	T	-0.80193	0.01854	T	0.0199797056658512	0.00699	T	0.446155	0.12501	T	0.029283747	0.02398	0.059603244	0.11213	0.029283747	0.02398	0.059603244	0.11213	-3.779	0.20491	T	.	.	0.080	0.07745	B	.	.	-0.161659	0.03293	0.567	0.63272574624271338	0.07180	0.03012	0.07883	N	AEFBI	0.065483	0.12775	N	-1.93275079026835	0.00294	0.0126085	-1.92698539599179	0.00433	0.01913921	1.50092551511534E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.02	-1.49	0.08259	-3.758000	0.00420	-7.362000	0.01173	-3.957000	0.00050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6098:0.0:0.3902	12.045	0.52769	839	0.37672	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2258.43	33	chr11	6170163	.	C	T	2258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=483;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-0.859;SOR=0.734	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1173	9	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	133.43	36	chr11	6200107	.	C	G	133.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.454;DP=699;ExcessHet=0;FS=87.112;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=1.57;SOR=5.992	GT:AD:DP:GQ:PL	0/1:104,11:123:99:145,0,3988	9	0	1	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	206.43	36	chr11	6200109	.	C	G	206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.956;DP=621;ExcessHet=0;FS=94.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=2.21;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,21:125:99:0|1:6200108_C_G:218,0,3984:6200108	9	0	1	0
chr11	6217738	6217738	C	A	exonic	FAM160A2	.	nonsynonymous SNV	FAM160A2:NM_001098794:exon9:c.G1848T:p.R616S,FAM160A2:NM_032127:exon9:c.G1890T:p.R630S	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00770747456144	0.0025	0.00119808	0.0007	0.0067	0.0003	0	0	5.477e-05	0	0.0011	0.0006015	93	154602	rs201971513	0.0003	0.0003	0.0003	0.0002	0.0061	0.0002	0.0002	0.0054	0.0052	0.0061	0.0002	0	0	1.911e-05	0.0017	3.538e-05	0.0005	0.0008	0.0019	0.0020	0.0020	0.0019	0.0066	0.0018	0.0017	0.0060	0.0057	0.0066	0	0.0004	0	0.0002	0	0	0.0001	0.0010	0.0002	1.0	0.00964	T	0.724	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.100504	0.19883	N	0.584078	0.999999	0.08975	N	-0.55	0.02420	N	1.28	0.35960	T	1.41	0.01488	N	0.1	0.08227	-0.9891	0.32828	T	0.016	0.06711	T	10	0.002858162	0.00046	T	0.007707	0.20457	T	0.027	0.05988	0.25	0.18757	0.0675242888579	0.06100	0.20350168211808867	0.20267	0.368273636117	0.38382	0.356226533651	0.18834	T	0.008299	0.07627	T	-0.612451	0.00122	T	-0.648934	0.09028	T	0.000884819767317438	0.00008	T	0.257374	0.04056	T	0.08377439	0.19360	0.053771105	0.09122	0.08377439	0.19359	0.053771105	0.09121	-3.473	0.16361	T	.	.	0.086	0.21766	B	.;.;.	.;.;.	-0.588464	0.01604	0.109	0.16500527312614852	0.00445	0.00288	0.01547	N	AEFDBI	0.026317	0.01952	N	-1.29351456976082	0.03753	0.1681972	-1.14241357745269	0.06905	0.333982	0.410328127786977	0.20206	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.16	1.55	0.22356	-0.081000	0.11285	1.852000	0.29263	-0.533000	0.04955	0.000000	0.06391	0.003000	0.18671	0.209000	0.22154	0.5534:0.2911:0.1555:0.0	5.111	0.14145	600	0.68026	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000506	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2698.43	33	chr11	6217738	.	C	A	2698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.747;DP=528;ExcessHet=0;FS=4.263;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.25;ReadPosRankSum=0.701;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1392:.	9	0	1	0
chr11	6240398	6240398	G	A	exonic	CNGA4	.	nonsynonymous SNV	CNGA4:NM_001037329:exon4:c.G604A:p.V202M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.918	0.392595584178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.001	0.83351	D	0.991	0.64070	D	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.12	0.87914	M	-4.96	0.98448	D	-2.87	0.60348	D	0.864	0.86085	1.096	0.99507	D	0.968	0.98989	D	10	0.9516778	0.94507	D	0.392596	0.93222	D	0.918	0.97890	0.773	0.89924	0.97398896493	0.97371	0.8931930134694763	0.89289	0.876461732327	0.69595	0.685285389423	0.65029	T	0.730065	0.92438	D	0.383561	0.88936	D	0.313182	0.88797	D	0.984066486358643	0.75504	D	0.986701	0.95453	D	0.32884476	0.55376	0.3131636	0.57315	0.32884476	0.55376	0.3131636	0.57315	-9.11	0.68401	D	.	.	0.859	0.80238	P	.	.	4.665768	0.74522	26.2	0.99892804565122661	0.96666	0.98932	0.88807	D	AEFDBI	0.920765	0.89323	D	0.899463011847162	0.91732	11.03566	0.822110849240832	0.91286	10.811	0.999999999998408	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.25	5.25	0.73169	9.602000	0.97623	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.286000	0.24163	0.0:0.0:1.0:0.0	17.760	0.88371	474	0.77851	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1443.43	36	chr11	6240398	.	G	A	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.533;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.3;SOR=0.647	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	6271186	6271186	G	T	exonic	CCKBR	.	nonsynonymous SNV	CCKBR:NM_001318029:exon4:c.G735T:p.K245N,CCKBR:NM_001363552:exon4:c.G1194T:p.K398N,CCKBR:NM_176875:exon5:c.G987T:p.K329N	.	430	1083	8	1	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.0686532882897	7.7e-05	0.00119808	0.0008	9.773e-05	8.661e-05	0	0	0.0003	0	0.0042	0.0006468	100	154602	rs200700735	0.0004	0.0004	0.0003	0.0006	0.0046	0.0004	0.0004	0.0042	0.0041	2.987e-05	4.472e-05	0	2.519e-05	7.493e-05	0.0029	0.0001	0.0006	0.0046	0.0003	0.0003	0.0002	0.0004	0.0052	0.0002	0.0002	0.0036	0.0031	7.214e-05	0	0.0001	0	0	0	0.0034	0.0002	0.0005	0.0052	0.001	0.78490	D	0.007	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000017	0.62929	D	0.111785	0.999797	0.81001	D	3.45	0.92227	M	-0.83	0.74159	T	-4.04	0.74427	D	0.488	0.52208	0.541	0.91119	D	0.667	0.88456	D	10	0.010039538	0.00225	T	0.068653	0.70511	D	0.625	0.85511	0.648	0.78542	0.907773649182	0.90685	0.7240555432090581	0.72349	1.19436433479	0.80347	0.845506846905	0.88935	D	0.467904	0.80205	T	-0.235398	0.15940	T	-0.10968	0.62638	T	0.136935076653653	0.16008	T	0.955404	0.83015	D	0.78903484	0.83213	0.70100546	0.82382	0.78903484	0.83215	0.70100546	0.82383	-11.559	0.82637	D	.	.	0.957	0.87984	P	.;.;.	.;.;.	4.289446	0.65400	24.8	0.99861196218946624	0.94002	0.98314	0.81539	D	AEFDGBI	0.695030	0.65383	D	0.761400420006961	0.83645	8.072015	0.673871498835877	0.80397	7.290288	0.999964479433147	0.48965	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.86	4.86	0.62624	2.408000	0.44227	5.860000	0.50423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.718	0.85259	598	0.68232	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1122.43	42	chr11	6271186	.	G	T	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.012;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.49;SOR=0.701	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA,SMPD1:NM_001007593:exon1:c.107_108insGGC:p.V36_L37insA,SMPD1:NM_001318087:exon1:c.107_108insGGC:p.V36_L37insA,SMPD1:NM_001365135:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	66	5	343	388	720	1839	0.991143	.	.	.	526543	not_specified|Niemann-Pick_disease,_type_A|not_provided|Niemann-Pick_disease,_type_B	MedGen:CN169374|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	21411.8	75	chr11	6390705	.	T	TGGC	21411.8	.	AC=1;AF=0.05;AN=20;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.05;MQ=60;QD=25.59;SOR=0.923	GT:AD:DP:GQ:PL	0/0:0,0:49:99:1484,1484,1484	9	0	1	0
chr11	6457019	6457019	C	A	exonic	TRIM3	.	nonsynonymous SNV	TRIM3:NM_001248007:exon5:c.G350T:p.S117I,TRIM3:NM_001248006:exon6:c.G707T:p.S236I,TRIM3:NM_033278:exon6:c.G707T:p.S236I,TRIM3:NM_006458:exon7:c.G707T:p.S236I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0406108589163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1137114	2.787e-06	4.104e-06	1.38e-06	4.223e-06	1.168e-05	6.5e-07	4.4e-07	.	.	0	0	0	0	0	0	0	5.048e-05	1.168e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.33585	T	0.157	0.32040	T	0.007	0.14184	B	0.025	0.20508	B	0.090150	0.20390	N	0.536080	1	0.81001	D	1.15	0.29295	L	-0.65	0.83737	T	-1.47	0.49018	N	0.211	0.30687	-0.7461	0.58138	T	0.357	0.71967	T	10	0.14929971	0.28257	T	0.040611	0.59470	D	0.099	0.28413	0.341	0.33302	0.379559396232	0.37572	0.3307529673893917	0.32988	1.20472787136	0.80666	0.613256454468	0.54776	T	0.203624	0.56215	T	-0.0115234	0.50052	T	-0.254329	0.49389	T	0.285113602876663	0.24385	T	0.943806	0.78763	D	0.07360645	0.16459	0.094102696	0.22258	0.07360645	0.16459	0.094102696	0.22258	-6.988	0.53946	T	.	.	0.178	0.45061	B	.;.;.;.;.;.	.;.;.;.;.;.	2.832478	0.37348	20.5	0.8225220606939081	0.14096	0.93178	0.57529	D	AEFDBI	0.448204	0.50353	N	-0.384495546998404	0.26020	1.416968	-0.2332344341077	0.30354	1.708302	0.205878617042652	0.18180	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.99	3.12	0.34986	5.425000	0.66208	5.157000	0.47777	-0.108000	0.15293	0.991000	0.37257	1.000000	0.68203	0.942000	0.48361	0.0805:0.145:0.7745:0.0	9.427	0.37751	732	0.54084	B-box, C-terminal;B-box, C-terminal;.;B-box, C-terminal;B-box, C-terminal;B-box, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	721.43	34	chr11	6457019	.	C	A	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.513;DP=390;ExcessHet=0;FS=2.326;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.144;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1200	9	0	1	0
chr11	6556844	6556844	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.C7549T:p.R2517C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0194588238816	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1460401085	2.287e-05	2.189e-05	2.538e-05	2.028e-05	8.394e-05	1.655e-05	1.416e-05	2.225e-05	1.549e-05	0	0	0	8.394e-05	0	0	2.595e-05	0	1.262e-05	2.629e-05	2.627e-05	5.14e-05	0	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999434	0.47043	D	2.28	0.64929	M	0.7	0.51474	T	-7.48	0.94988	D	0.71	0.71321	-0.7612	0.57340	T	0.197	0.55244	T	9	0.6914877	0.71883	D	0.019459	0.41828	T	0.367	0.68670	.	.	0.503930629158	0.50032	0.9588028900333598	0.95866	0.312029139703	0.33506	0.526361465454	0.42522	T	0.036714	0.24209	T	0.0604001	0.59663	T	0.052584	0.73755	D	0.903963446617126	0.55730	D	0.782022	0.41734	T	0.6564899	0.75711	0.54153067	0.73503	0.6564899	0.75712	0.54153067	0.73503	-6.56	0.50747	T	.	.	0.472	0.63300	A	.;.	.;.	4.757281	0.76885	26.6	0.99933573328818703	0.99488	0.81431	0.40836	D	AEFGBI	0.255472	0.37459	N	0.584051965646026	0.72179	5.76515	0.622820547023997	0.76601	6.52112	0.999960818826582	0.48965	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.88	5.88	0.94564	3.011000	0.49254	5.951000	0.51650	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.1518:0.8482:0.0:0.0	13.973	0.63766	464	0.78488	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3048.43	106	chr11	6556844	.	C	T	3048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.331;DP=760;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.43;SOR=0.793	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	9	0	1	0
chr11	6557411	6557411	C	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.C8116A:p.P2706T	.	322	1166	29	5	0	39	0.0164488	.	.	.	701888	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0035	0.00199681	0.0052	0.0010	0.0052	0	0.0109	0.0061	0.0053	0.0057	0.0016041	248	154602	rs192678564	0.0043	0.0042	0.0042	0.0044	0.0056	0.0042	0.0042	0.0052	0.0050	0.0008	0.0033	0.0089	0	0.0027	0.0053	0.0045	0.0039	0.0056	0.0033	0.0033	0.0035	0.0030	0.0050	0.0030	0.0030	0.0045	0.0043	0.0010	0	0.0033	0.0060	0	0.0019	0.0102	0.0049	0.0033	0.0050	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.748186	0.33898	D	1.975	0.53506	M	1.2	0.37405	T	-2.05	0.47008	N	0.139	0.14905	-0.8769	0.50005	T	0.083	0.32700	T	9	0.0074189305	0.00169	T	.	.	.	0.149	0.39377	.	.	0.471292358255	0.46759	0.1847132401032464	0.18389	0.56369228266	0.52792	0.417725682259	0.27524	T	0.007957	0.07329	T	-0.419871	0.01713	T	-0.374249	0.36393	T	0.0172735814394521	0.00468	T	0.458654	0.13238	T	0.1698434	0.37524	0.23968908	0.49325	0.1698434	0.37524	0.23968908	0.49324	-3.654	0.18641	T	.	.	0.230	0.46238	B	.;.	.;.	1.907854	0.24231	16.32	0.99451365453118268	0.65274	0.96239	0.68176	D	AEFDBI	0.183617	0.31094	N	0.325248348728929	0.57448	3.912109	0.360639371663606	0.59152	4.090616	0.999999994108912	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.16	5.16	0.70563	1.685000	0.37277	1.784000	0.28742	0.599000	0.40250	0.541000	0.27275	0.453000	0.24963	0.208000	0.22126	0.0:1.0:0.0:0.0	17.652	0.88071	464	0.78488	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007888	0.000000	0.012963	0.000000	0.000000	0.000000	0.017123	0.013636	0.1	3693.14	106	chr11	6557411	.	C	A	3693.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.461;DP=725;ExcessHet=0.2348;FS=0.998;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.319;SOR=0.776	GT:AD:DP:GQ:PL	0/1:45,73:118:99:2030,0,1123	8	0	2	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.14	39	chr11	6564079	.	G	C	33.14	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.812;DP=609;ExcessHet=0;FS=274.149;InbreedingCoeff=-0.2164;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=2.14;SOR=8.955	GT:AD:DP:GQ:PL	0/0:49,0:49:24:0,24,1116	5	0	1	4
chr11	6568520	6568520	A	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon38:c.A12605C:p.H4202P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.00851520447513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000358	0.45440	D	0.143240	0.716566	0.33573	D	1.895	0.50365	L	2.69	0.12268	T	-6.64	0.92217	D	0.807	0.80278	-0.9038	0.47583	T	0.086	0.33410	T	10	0.9435557	0.93681	D	0.008515	0.22507	T	0.325	0.64725	0.824	0.93592	0.399596177874	0.39575	0.5508511972799012	0.55011	0.703269646133	0.61259	0.487403184175	0.37079	T	0.036581	0.24156	T	0.0581772	0.59383	T	-0.154209	0.58869	T	0.986542820930481	0.77236	D	0.49795	0.15494	T	0.64973766	0.75350	0.68733865	0.81611	0.64973766	0.75351	0.68733865	0.81612	-9.948	0.73600	D	.	.	0.246	0.48029	B	.;.	.;.	4.045118	0.59916	24.2	0.96901283130775329	0.31539	0.86157	0.45385	D	AEFDGBHCI	0.639007	0.61722	D	0.591740939912741	0.72657	5.840606	0.542168520950712	0.70856	5.566864	1.0	0.98316	0.706298	0.61202	0	0.709663	0.81188	0	0.535252	0.11790	0	0.604944	0.38103	0	.	.	4.77	4.77	0.60425	4.090000	0.57417	10.738000	0.83653	0.756000	0.94297	0.993000	0.37899	1.000000	0.68203	0.961000	0.51904	1.0:0.0:0.0:0.0	10.854	0.45995	415	0.81806	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1377.43	33	chr11	6568520	.	A	C	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.43;DP=469;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.966;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1375	9	0	1	0
chr11	6571721	6571721	T	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon43:c.T13997C:p.I4666T	.	426	1064	32	0	0	32	0.0148148	.	.	.	612918	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00242048950287	0.0059	0.00199681	0.0061	0.0018	0.0051	0	0.0017	0.0091	0.0054	0.0019	0.005181	801	154602	rs11604362	0.0062	0.0062	0.0062	0.0062	0.0253	0.0061	0.0061	0.0220	0.0207	0.0016	0.0058	0.0083	0	0.0016	0.0253	0.0070	0.0066	0.0016	0.0046	0.0046	0.0052	0.0040	0.0068	0.0043	0.0042	0.0063	0.0061	0.0016	0.0340	0.0050	0.0072	0	0.0007	0.0308	0.0068	0.0086	0.0010	0.328	0.13219	T	0.217	0.26145	T	0.0	0.02946	B	0.001	0.04355	B	0.286257	0.03865	N	1.500610	1	0.08975	N	1.04	0.26193	L	3.19	0.07353	T	0.85	0.01736	N	0.108	0.09914	-0.9586	0.39442	T	0.005	0.01578	T	10	0.0035536885	0.00064	T	0.00242	0.04757	T	0.021	0.04004	.	.	0.0401082797425	0.02173	0.2379967463452294	0.23713	0.148820726089	0.16780	0.2791274786	0.07370	T	0.004595	0.03998	T	-0.689082	0.00042	T	-0.757749	0.03194	T	6.56141346553341e-05	0.00001	T	0.382862	0.09330	T	0.025150282	0.01421	0.037576307	0.03441	0.025150282	0.01421	0.037576307	0.03440	-1.741	0.02339	T	.	.	0.092	0.13644	B	.;.	.;.	-0.464050	0.01986	0.174	0.63889802075881286	0.07344	0.02995	0.07855	N	AEFDGBHCI	0.017310	0.00445	N	-1.45185825977806	0.02202	0.09697423	-1.37140251439273	0.03560	0.166304	0.999925422565124	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.505578	0.09266	0	0.664235	0.64389	0	.	.	4.75	-0.827	0.10256	-0.708000	0.05138	-0.500000	0.08808	-0.137000	0.12594	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.3386:0.1861:0.0:0.4753	3.778	0.08189	425	0.81160	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.015152	0.020380	0.064327	0.050000	0.017241	0.009146	0.003788	0.05	878.43	38	chr11	6571721	.	T	C	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=410;ExcessHet=0;FS=3.028;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.589;SOR=0.423	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	9	0	1	0
chr11	6612173	6612173	G	A	exonic	TAF10	.	nonsynonymous SNV	TAF10:NM_006284:exon1:c.C17T:p.S6F	.	497	1024	1	0	0	1	0.000488043	.	.	.	2335204	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0414535104539	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1016434501	9.497e-05	8.209e-05	7.891e-05	0.0001	0.0008	7.949e-05	7.375e-05	0.0001	8.343e-05	0	0	0	0	0	0.0008	0.0001	2.514e-05	0	3.963e-05	3.941e-05	6.454e-05	1.353e-05	7.375e-05	1.723e-05	1.134e-05	2.854e-05	1.864e-05	2.42e-05	0	0	0	0	0	0	7.375e-05	0	0	0.092	0.31682	T	0.12	0.35970	T	0.001	0.07471	B	0.001	0.04355	B	0.052688	0.22873	N	0.348023	0.778987	0.29354	N	0.205	0.09354	N	0.82	0.48142	T	-0.41	0.14000	N	0.214	0.23884	-1.0627	0.11093	T	0.059	0.24723	T	10	0.079520434	0.12801	T	0.041454	0.59937	D	0.081	0.23632	0.199	0.11247	0.171220215726	0.16700	0.323713228342783	0.32284	0.627975423405	0.56873	0.886234998703	0.94783	D	0.092678	0.39053	T	-0.160555	0.26675	T	-0.468402	0.25688	T	0.240599605884785	0.22447	T	0.618838	0.23746	T	0.14195888	0.32688	0.2279458	0.47821	0.14195888	0.32688	0.2279458	0.47820	-6.731	0.52043	T	.	.	0.194	0.41464	B	.	.	4.682322	0.74937	26.2	0.95792811913327569	0.27836	0.48434	0.28206	N	AEFGBHCIJ	.	.	.	-0.428753029566688	0.24465	1.32123	-0.2189826263307	0.30856	1.740966	0.999999999999999	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	5.29	3.31	0.37025	2.987000	0.49066	6.426000	0.55624	0.668000	0.69082	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1743:0.1566:0.6691:0.0	6.169	0.19621	506	0.75555	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	146.11	.	chr11	6612173	.	G	A	146.11	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.21;DP=48;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=24.35;ReadPosRankSum=0.674;SOR=0.707	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,248	8	0	1	1
chr11	6630130	6630130	G	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon10:c.C4664A:p.P1555Q	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0057983207862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.15665	T	0.185	0.28958	T	0.021	0.18474	B	0.026	0.20792	B	0.000393	0.44960	D	0.000000	0.535504	0.32010	D	1.81	0.47622	L	4.67	0.01735	T	-1.3	0.32590	N	0.269	0.30461	-1.1317	0.01703	T	0.010	0.03856	T	10	0.11152524	0.20886	T	0.005798	0.15072	T	0.102	0.29158	0.457	0.52265	0.295226631146	0.29124	0.6586779977676052	0.65804	0.768272729556	0.64638	0.502455472946	0.39170	T	0.132169	0.46209	T	-0.224116	0.17434	T	-0.559704	0.16404	T	0.691428303718567	0.40314	D	0.751525	0.37371	T	0.04905398	0.08650	0.06823634	0.14223	0.04905398	0.08649	0.06823634	0.14223	-5.635	0.43111	T	.	.	0.131	0.28145	B	.	.	4.118113	0.61526	24.3	0.9881281280720281	0.46655	0.43753	0.27168	N	AEFDGBCI	0.162262	0.28842	N	-0.247320425823186	0.31210	1.747782	-0.18580808398558	0.32056	1.820101	0.999999977142135	0.74766	0.706548	0.73137	0	0.547309	0.14657	0	0.64067	0.45733	0	0.714379	0.83352	0	.	.	4.92	4.0	0.45673	1.730000	0.37748	8.446000	0.77207	0.652000	0.53365	0.279000	0.25131	1.000000	0.68203	0.983000	0.59808	0.0787:0.1416:0.7797:0.0	9.87	0.40337	238	0.90711	Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005102	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	962.43	33	chr11	6630130	.	G	T	962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.365;DP=384;ExcessHet=0;FS=11.19;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=2.41;SOR=0.142	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1065	9	0	1	0
chr11	6633550	6633550	T	G	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon5:c.A2317C:p.S773R	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00637290447137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.782e-06	2.736e-06	1.379e-06	4.207e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.727e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.535	0.06913	T	0.004	0.74150	D	0.0	0.02946	B	0.001	0.04355	B	0.065195	0.21899	N	0.388509	0.600237	0.30947	N	0.75	0.19020	N	0.73	0.50721	T	-1.54	0.37375	N	0.291	0.32921	-1.0202	0.23649	T	0.071	0.28969	T	10	0.11606255	0.21883	T	0.006373	0.16754	T	0.121	0.33580	0.513	0.61153	0.143184338766	0.13958	0.3658653595494536	0.36500	0.322906376399	0.34462	0.43632465601	0.30075	T	0.137501	0.47048	T	-0.117346	0.33559	T	-0.406336	0.32650	T	0.5878986120224	0.35924	D	0.680032	0.28847	T	0.28290436	0.51325	0.1584029	0.36993	0.28290436	0.51325	0.1584029	0.36992	-3.497	0.16389	T	.	.	0.179	0.38941	B	.	.	2.876999	0.38057	20.6	0.98116991345624571	0.38399	0.98077	0.79403	D	AEFDGBIJ	0.612606	0.60061	D	-0.231537252455909	0.31845	1.789863	-0.0091787975305978	0.39298	2.327984	0.999999991355948	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.84	4.84	0.62125	5.527000	0.66837	1.998000	0.30109	0.665000	0.62972	1.000000	0.71638	0.994000	0.32194	0.987000	0.62547	0.0:0.0:0.0:1.0	12.577	0.55719	231	0.90996	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	987.43	35	chr11	6633550	.	T	G	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.754;DP=443;ExcessHet=0;FS=1.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.098;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	9	0	1	0
chr11	6785743	6785743	A	T	exonic	OR2AG1	.	stopgain	OR2AG1:NM_001004489:exon1:c.A706T:p.K236X	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00519169	0.0023	9.612e-05	8.655e-05	0.0002	0	0	0.0011	0.0164	0.0019728	305	154602	rs201084796	0.0009	0.0009	0.0005	0.0013	0.0137	0.0008	0.0008	0.0131	0.0128	5.974e-05	0	0	0	0	0.0007	6.295e-06	0.0014	0.0137	0.0005	0.0006	0.0004	0.0007	0.0168	0.0004	0.0004	0.0138	0.0128	0	0	6.539e-05	0	0.0002	0	0	0	0	0.0168	.	.	.	.	.	.	.	.	.	.	.	.	0.000049	0.53742	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.237	0.26717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275197	0.80900	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;Low	9.664386	0.99190	42	0.99581336188606528	0.73040	0.97336	0.74107	D	AEFGI	0.051799	0.09188	N	0.759485635637196	0.83520	8.039226	0.606721467052145	0.75427	6.309	0.0645296332975208	0.15332	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.32	4.32	0.50899	4.080000	0.57342	10.807000	0.83807	0.713000	0.85321	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.793	0.51352	507	0.75469	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3376.43	206	chr11	6785743	.	A	T	3376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.47;DP=1647;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=1.04;QD=14.01;ReadPosRankSum=0.099;SOR=0.618	GT:AD:DP:GQ:PL	0/0:223,0:223:99:0,120,1800	9	0	1	0
chr11	7042561	7042561	G	A	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G535A:p.V179M	.	424	1067	27	4	0	35	0.0161365	.	.	.	2816418	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.559	.	0.0040	0.00259585	0.0051	9.714e-05	0.0016	0.0001	0.0024	0.0057	0.0044	0.0121	0.0047347	732	154602	rs149541731	0.0039	0.0039	0.0035	0.0042	0.0132	0.0038	0.0038	0.0110	0.0107	0.0007	0.0025	0.0411	2.519e-05	0.0015	0.0132	0.0026	0.0063	0.0116	0.0034	0.0034	0.0033	0.0035	0.0128	0.0032	0.0031	0.0103	0.0093	0.0006	0	0.0045	0.0369	0	0.0014	0.0068	0.0030	0.0047	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000725	0.42129	D	0.000000	0.804602	0.34557	D	3.205	0.89189	M	-1.72	0.83241	D	-2.77	0.58733	D	0.47	0.50598	0.322	0.87899	D	0.590	0.85316	D	10	0.014171183	0.00298	T	.	.	.	0.559	0.81888	.	.	0.802354826885	0.80051	0.2722668744954465	0.27139	0.149034713333	0.16805	0.448349237442	0.31719	T	0.385774	0.74709	T	-0.199575	0.20866	T	-0.0484216	0.67131	D	0.0438593696894781	0.04395	T	0.754025	0.37642	T	0.34251463	0.56479	0.36897784	0.62177	0.34251463	0.56479	0.36897784	0.62177	-6.375	0.49314	T	.	.	0.243	0.47752	B	.	.	3.590258	0.50659	23.0	0.99849493235859421	0.92925	0.92627	0.56158	D	AEFBI	0.263047	0.38066	N	0.238519058733931	0.53074	3.477999	0.0383602981176532	0.41513	2.495254	0.00209452125363833	0.09151	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.25	2.35	0.28166	4.121000	0.57654	4.050000	0.41500	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.577000	0.30821	0.0949:0.1673:0.7378:0.0	7.601	0.27245	687	0.59234	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.010101	0.004076	0.008772	0.050000	0.043103	0.015244	0.007576	0.05	1080.43	55	chr11	7042561	.	G	A	1080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.593;DP=577;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.948;SOR=0.592	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	9	0	1	0
chr11	7043303	7043303	G	T	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon4:c.G1277T:p.R426I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	.	.	0.00259585	0.0014	0.0002	0	0.0001	0	0	0.0022	0.0097	0.0011902	184	154602	rs202085594	0.0005	0.0005	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	0.0001	0	0	0	0	0.0002	1.799e-06	0.0011	0.0083	0.0003	0.0003	0.0002	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	4.809e-05	0	0.0001	0	0	0	0	0	0	0.0081	0.024	0.47745	D	0.029	0.54541	D	0.022	0.18677	B	0.027	0.21085	B	0.372254	0.13510	N	0.700768	0.999998	0.08975	N	1.665	0.42610	L	-1.79	0.83815	D	-2.37	0.52289	N	0.301	0.34012	-0.6426	0.63035	T	0.374	0.73257	T	10	0.016143084	0.00340	T	.	.	.	0.169	0.43123	0.541	0.65304	0.630428069638	0.62740	0.2934849814337536	0.29261	0.0234266952015	0.02374	0.251926898956	0.03973	T	0.041407	0.25847	T	-0.374765	0.03360	T	-0.304844	0.44210	T	0.0105440160050438	0.00146	T	0.788521	0.42806	T	0.17480965	0.38305	0.13406786	0.32135	0.17480965	0.38304	0.13406786	0.32135	-6.145	0.47477	T	.	.	0.115	0.22933	B	.	.	1.165163	0.15545	11.93	0.94709113028767133	0.25370	0.17599	0.19906	N	AEFBI	0.190302	0.31753	N	-0.838306274238912	0.12339	0.600862	-0.901906912291123	0.12050	0.6175664	1.29454748261518E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.48	1.27	0.20595	0.171000	0.16497	0.912000	0.22635	0.676000	0.76740	0.003000	0.16062	0.087000	0.22477	0.002000	0.04165	0.4532:0.0:0.5468:0.0	6.613	0.21958	687	0.59234	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2406.43	55	chr11	7043303	.	G	T	2406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.146;DP=610;ExcessHet=0;FS=2.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.091;SOR=0.686	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	9	0	1	0
chr11	7648505	7648505	T	A	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon14:c.T1336A:p.L446I,PPFIBP2:NM_001256568:exon15:c.T1429A:p.L477I,PPFIBP2:NM_001351858:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351860:exon16:c.T1558A:p.L520I,PPFIBP2:NM_001351861:exon16:c.T1534A:p.L512I,PPFIBP2:NM_001351857:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351859:exon17:c.T1567A:p.L523I,PPFIBP2:NM_001351854:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351856:exon18:c.T1771A:p.L591I,PPFIBP2:NM_003621:exon18:c.T1765A:p.L589I,PPFIBP2:NM_001351853:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351855:exon19:c.T1798A:p.L600I,PPFIBP2:NM_001351862:exon19:c.T1765A:p.L589I	.	430	1058	34	0	0	34	0.015814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	.	0.0016	0.0061901	0.0050	0.0008	0.0048	0.0002	0.0005	0.0024	0.0077	0.0228	0.0045019	696	154602	rs149157151	0.0039	0.0039	0.0032	0.0045	0.0245	0.0038	0.0037	0.0237	0.0233	0.0004	0.0035	0.0001	5.038e-05	0.0004	0.0052	0.0027	0.0043	0.0245	0.0026	0.0026	0.0021	0.0031	0.0262	0.0024	0.0023	0.0225	0.0211	0.0004	0	0.0037	0	0	0.0005	0	0.0026	0.0038	0.0262	0.0	0.91255	D	0.063	0.92824	T	0.985	0.61118	D	0.987	0.77487	D	0.000023	0.55875	D	0.000000	0.788904	0.34361	D	2.79	0.81396	M	0.61	0.53516	T	-1.85	0.43334	N	0.769	0.79118	-0.4659	0.69868	T	0.212	0.57307	T	10	0.0106392205	0.00236	T	.	.	.	0.262	0.57482	.	.	0.574091456918	0.57077	0.49773145617975584	0.49694	0.231808938952	0.25732	0.570495069027	0.48747	T	0.120955	0.44357	T	-0.29851	0.08801	T	-0.183312	0.56215	T	0.0556828833515985	0.06471	T	0.889011	0.61998	D	0.3305879	0.55519	0.30209062	0.56241	0.3305879	0.55519	0.30209062	0.56240	-11.804	0.83883	D	.	.	0.282	0.51497	B	.;.;.;.	.;.;.;.	3.173236	0.43041	21.7	0.99424277596642729	0.63935	0.72408	0.35442	D	AEDBI	0.298969	0.40814	N	0.323836889841474	0.57374	3.904504	0.225831262289025	0.51286	3.312396	0.504164713094992	0.20967	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.87	0.919	0.18518	1.289000	0.32913	1.482000	0.26828	0.665000	0.62972	0.690000	0.28531	0.951000	0.29025	0.847000	0.40026	0.0:0.3758:0.0:0.6242	8.367	0.31555	770	0.49152	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-beta, SAM domain repeat 1;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.034351	0.05	971.43	35	chr11	7648505	.	T	A	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.678;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.217;SOR=0.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1253	9	0	1	0
chr11	7691973	7691973	A	G	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon13:c.T1436C:p.I479T	.	.	.	.	.	.	.	.	.	.	.	3469902	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00469459798419	0.0002	.	0.0001	0	0.0010	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367874438	6.615e-05	6.704e-05	6.124e-05	7.116e-05	0.0001	5.515e-05	5.119e-05	6.644e-05	5.388e-05	0	0	0	0	0	0	7.158e-05	0.0001	0.0001	5.915e-05	5.911e-05	7.708e-05	4.036e-05	8.819e-05	3.078e-05	2.21e-05	3.762e-05	2.575e-05	7.238e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.023021	0.26524	N	0.268702	0.999442	0.21182	N	.	.	.	.	.	.	.	.	.	0.3	0.33904	-1.0704	0.09326	T	0.039	0.16978	T	10	0.08452457	0.14175	T	0.004695	0.11660	T	.	.	.	.	0.226586394389	0.22295	0.5168185919321072	0.51604	.	.	0.471952199936	0.34948	T	0.032766	0.22630	T	-0.0636517	0.42333	T	-0.0695286	0.65659	T	0.837069034576416	0.49090	D	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.;.	.;.	3.044420	0.40826	21.2	0.99309170776257294	0.58943	0.77278	0.37978	D	AEFBHCIJ	0.124716	0.24090	N	0.0645996812780982	0.44815	2.748879	0.0991468785882716	0.44505	2.731047	0.996727954942703	0.34958	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	5.09	2.7	0.31007	3.172000	0.50532	3.313000	0.37480	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.8179:0.0:0.1821:0.0	7.241	0.25272	793	0.45818	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1298.43	92	chr11	7691973	.	A	G	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.391;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.439;SOR=0.755	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,988	9	0	1	0
chr11	7928005	7928005	G	A	exonic	OR10A6	.	stopgain	OR10A6:NM_001004461:exon1:c.C658T:p.R220X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.255e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs267603211	4.994e-05	4.994e-05	5.718e-05	4.263e-05	8.964e-05	4.059e-05	3.734e-05	4.265e-05	3.837e-05	8.964e-05	2.24e-05	0	0	0	0	5.396e-05	0.0001	1.159e-05	3.945e-05	4.597e-05	3.856e-05	4.038e-05	0.0003	1.716e-05	1.13e-05	8.891e-05	5.395e-05	0	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.287139	0.14836	N	0.503989	0.999978	0.53665	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261863	0.79701	D	0.202017	0.83240	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	8.081407	0.97159	37	0.91818852933635653	0.21127	0.02338	0.06684	N	AEFGBI	0.047871	0.08110	N	-0.220879592952697	0.32278	1.818621	-0.5762032245944	0.20113	1.082241	3.36458786771513E-4	0.06583	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.43	0.33	0.15169	-0.213000	0.09309	-1.581000	0.05125	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.2689:0.0:0.3631:0.368	2.687	0.04793	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1475.43	66	chr11	7928005	.	G	A	1475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.864;DP=727;ExcessHet=0;FS=2.373;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.722;SOR=0.477	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr11	7938716	7938716	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G805A:p.E269K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0038765257092	0.0005	.	0.0003	0	0	0	0	0.0005	0	6.056e-05	0.0002264	35	154602	rs142623287	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0001	0	0	0	0	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	4.83e-05	0	6.545e-05	0	0	0	0	0.0004	0.0005	0	0.242	0.17584	T	0.457	0.12704	T	0.958	0.54977	D	0.419	0.45047	B	0.017456	0.27721	U	0.162995	0.999448	0.21182	N	1.2	0.30300	L	8.73	0.00091	T	-2.05	0.47008	N	0.206	0.22870	-0.7392	0.58493	T	0.000	0.00152	T	10	0.06826961	0.09631	T	0.003877	0.09117	T	0.076	0.22200	.	.	0.531245695338	0.52774	0.10761347339283284	0.10690	0.030149542159	0.03112	0.24258056283	0.03028	T	0.009584	0.08721	T	-0.453981	0.01070	T	-0.555738	0.16779	T	0.154635116457939	0.17466	T	.	.	.	0.17411381	0.38197	0.1620334	0.37659	0.17411381	0.38197	0.1620334	0.37658	-5.333	0.40268	T	.	.	0.123	0.25721	B	.;.	.;.	3.736124	0.53476	23.4	0.99783850695842202	0.87043	0.26584	0.23035	N	AEFBI	0.080422	0.16261	N	0.020454684407766	0.42785	2.58456	-0.00974991343322435	0.39274	2.32609	3.21668443426285E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.65	4.65	0.57626	0.513000	0.22476	0.874000	0.22338	0.541000	0.25215	0.000000	0.06391	0.000000	0.08366	0.873000	0.41610	0.0:0.8998:0.0:0.1002	8.903	0.34663	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1826.43	55	chr11	7938716	.	C	T	1826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.467;SOR=0.662	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1158	9	0	1	0
chr11	8140017	8140017	G	A	exonic	RIC3	.	nonsynonymous SNV	RIC3:NM_001206671:exon2:c.C301T:p.P101S,RIC3:NM_001206672:exon2:c.C301T:p.P101S,RIC3:NM_001346691:exon2:c.C301T:p.P101S,RIC3:NM_024557:exon2:c.C301T:p.P101S,RIC3:NM_001346692:exon3:c.C154T:p.P52S,RIC3:NM_001346693:exon3:c.C154T:p.P52S,RIC3:NM_001346694:exon3:c.C154T:p.P52S	.	428	1082	12	0	0	12	0.00551471	.	.	.	3539185	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.833	0.130872980439	0.0031	0.000599042	0.0027	0.0007	0.0009	0.0006	0.0009	0.0041	0.0044	0.0015	0.0026778	414	154602	rs144806410	0.0029	0.0029	0.0029	0.0028	0.0036	0.0028	0.0028	0.0030	0.0029	0.0006	0.0013	0.0112	0.0002	0.0017	0.0036	0.0030	0.0029	0.0016	0.0021	0.0021	0.0021	0.0022	0.0030	0.0020	0.0019	0.0026	0.0025	0.0007	0	0.0009	0.0153	0.0010	0.0010	0.0034	0.0030	0.0019	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-1.54	0.81640	D	-7.16	0.94171	D	0.921	0.92667	0.538	0.91077	D	0.715	0.90221	D	10	0.027805716	0.00920	T	0.130873	0.81307	D	0.833	0.94728	.	.	0.880416553741	0.87924	0.8763778918380538	0.87604	0.35463631042	0.37235	0.780313491821	0.78975	T	0.203809	0.56239	T	0.102815	0.64595	D	0.374629	0.91237	D	0.0445792020432268	0.04526	T	0.952005	0.82846	D	0.846962	0.87112	0.82708853	0.89995	0.846962	0.87113	0.82708853	0.89996	-12.031	0.85002	D	.	.	0.906	0.85639	P	.;.;.;.;.	.;.;.;.;.	5.049075	0.84086	28.2	0.99911045710102608	0.98022	0.98421	0.82603	D	AEFBI	0.891571	0.82766	D	0.9166118552272	0.92548	11.48755	0.882915564737894	0.94784	13.040	0.999999987352972	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	8.527000	0.90409	11.883000	0.98886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.628	0.95679	724	0.55085	Resistance to inhibitors of cholinesterase protein 3, N-terminal;Resistance to inhibitors of cholinesterase protein 3, N-terminal;.;Resistance to inhibitors of cholinesterase protein 3, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.100000	0.000000	0.000000	0.003788	0.05	1203.43	34	chr11	8140017	.	G	A	1203.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.586;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.43;SOR=0.66	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,972	9	0	1	0
chr11	8434191	8434191	T	G	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001352396:exon12:c.A1076C:p.H359P,STK33:NM_001352397:exon12:c.A1076C:p.H359P,STK33:NM_001352398:exon13:c.A1076C:p.H359P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	63.46	2	chr11	8434191	.	T	G	63.46	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.834;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:7,0:7:21:.:.:0,21,153:.	7	0	1	2
chr11	8434206	8434206	T	C	exonic	STK33	.	nonsynonymous SNV	STK33:NM_001352396:exon12:c.A1061G:p.D354G,STK33:NM_001352397:exon12:c.A1061G:p.D354G,STK33:NM_001352398:exon13:c.A1061G:p.D354G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341672841	0.0002	5.725e-05	0.0001	0.0003	0.0002	9.393e-05	6.409e-05	7.674e-05	4.647e-05	0	0	0.0010	0	0	0	0.0002	0	0.0002	0	2.082e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	63.47	2	chr11	8434206	.	T	C	63.47	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=-1.834;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:18:.:.:0,18,148:.	7	0	1	2
chr11	8620481	8620481	G	A	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon16:c.C3109T:p.R1037W	.	431	1077	13	1	0	15	0.00691563	.	.	.	2816426	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0037	0.00379393	0.0046	0.0005	0.0026	0	0.0025	0.0047	0.0047	0.0063	0.0012354	191	154602	rs138444298	0.0047	0.0045	0.0047	0.0048	0.0068	0.0046	0.0046	0.0063	0.0062	0.0010	0.0036	0.0031	0	0.0024	0.0047	0.0050	0.0047	0.0068	0.0032	0.0032	0.0034	0.0030	0.0072	0.0030	0.0029	0.0054	0.0047	0.0009	0	0.0029	0.0043	0	0.0023	0.0068	0.0047	0.0047	0.0072	0.001	0.78490	D	0.018	0.59732	D	0.081	0.24602	B	0.027	0.21085	B	0.006642	0.31890	N	0.204155	1	0.08975	N	1.79	0.46772	L	-0.2	0.66474	T	-4.12	0.75058	D	0.217	0.24260	-0.8955	0.48437	T	0.130	0.43887	T	10	0.0055477023	0.00123	T	.	.	.	0.079	0.23065	.	.	0.732548156873	0.73016	0.49871414342802306	0.49792	.	.	0.425918519497	0.28650	T	0.16208	0.50659	T	-0.423098	0.01635	T	-0.375962	0.36194	T	0.0314704420708291	0.02221	T	0.742826	0.36203	T	0.14717536	0.33656	0.17139192	0.39317	0.14717536	0.33655	0.17139192	0.39317	-5.445	0.41350	T	.	.	0.131	0.28232	B	.;.;.	.;.;.	3.567947	0.50241	22.9	0.99702678716745119	0.80729	0.28097	0.23460	N	AEFDBI	0.346012	0.44097	N	-0.432309289709939	0.24343	1.313791	-0.359936476188308	0.26203	1.445801	0.00582570620209449	0.11053	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	4.68	3.76	0.42368	0.884000	0.27851	5.827000	0.50131	0.676000	0.76740	0.035000	0.20724	1.000000	0.68203	0.845000	0.39915	0.0875:0.1601:0.7524:0.0	8.067	0.29828	502	0.75873	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008353	0.015957	0.006944	0.008547	0.000000	0.000000	0.005882	0.000000	0.05	1287.43	96	chr11	8620481	.	G	A	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.32;DP=420;ExcessHet=0;FS=3.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=1.38;SOR=0.572	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr11	8621239	8621239	T	C	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon15:c.A2810G:p.Q937R	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0279840144915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.181	0.29346	T	0.761	0.43566	P	0.332	0.42135	B	0.000132	0.49741	D	0.000000	0.963017	0.26042	N	2.47	0.71715	M	0.99	0.41750	T	-1.5	0.36980	N	0.165	0.19728	-1.0052	0.28397	T	0.106	0.38685	T	10	0.13149083	0.25026	T	0.027984	0.50729	D	0.128	0.35103	0.078	0.00601	0.597678041844	0.59447	0.4648957740633748	0.46408	.	.	0.525457262993	0.42395	T	0.005709	0.05159	T	-0.225475	0.17253	T	-0.561656	0.16222	T	0.921543419361115	0.58124	D	0.616838	0.23625	T	0.22723497	0.45420	0.15218635	0.35816	0.22723497	0.45420	0.15218635	0.35815	-3.897	0.22258	T	.	.	0.084	0.26762	B	.;.;.	.;.;.	3.567113	0.50221	22.9	0.9779040921773261	0.35995	0.86879	0.46259	D	AEFDBI	0.142844	0.26539	N	0.135467023779215	0.48123	3.028765	0.179644416757533	0.48733	3.085274	0.0174139578012526	0.12948	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	5.15	3.97	0.45241	0.492000	0.22144	3.580000	0.39154	0.654000	0.53741	0.100000	0.22794	1.000000	0.68203	0.784000	0.37066	0.0:0.0:0.1563:0.8437	10.92	0.46369	503	0.75780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1737.43	36	chr11	8621239	.	T	C	1737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=450;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.183;SOR=0.835	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	9	0	1	0
chr11	8641006	8641006	A	T	exonic	TRIM66	.	nonsynonymous SNV	TRIM66:NM_014818:exon9:c.T934A:p.S312T	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00416792507923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1269347108	7.147e-07	6.841e-07	1.41e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.724e-05	0	6.576e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.106	0.32929	T	0.526	0.12421	T	0.003	0.11197	B	0.004	0.10090	B	0.376876	0.13446	N	0.652343	0.999998	0.08975	N	0.695	0.17993	N	2.24	0.17923	T	0.07	0.06138	N	0.119	0.17691	-0.9612	0.38955	T	0.031	0.13418	T	10	0.033076674	0.01474	T	0.004168	0.10026	T	0.068	0.19811	0.113	0.02240	0.112648838833	0.10856	0.24282499496737545	0.24196	.	.	0.343972206116	0.17031	T	0.00221	0.01614	T	-0.335849	0.05681	T	-0.709382	0.05327	T	0.0305676702409983	0.02077	T	0.517648	0.16760	T	0.05647931	0.11119	0.06795366	0.14126	0.05647931	0.11118	0.06795366	0.14125	-4.584	0.31970	T	.	.	0.069	0.07083	B	.;.;.	.;.;.	0.371406	0.07437	4.070	0.7363590055963638	0.10400	0.03378	0.08480	N	AEFDGBI	0.039410	0.05719	N	-0.973115045783596	0.09181	0.4334547	-1.02641068756921	0.09206	0.4567287	0.999970240193653	0.50053	0.566229	0.32551	0	0.615513	0.52658	0	0.769059	0.98459	0	0.528226	0.09195	0	.	.	4.58	-6.71	0.01597	-1.347000	0.02739	-0.144000	0.11487	0.691000	0.84096	0.008000	0.17931	0.006000	0.19429	0.955000	0.50612	0.269:0.3264:0.4045:0.0	8.585	0.32814	359	0.84979	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	40	chr11	8641006	.	A	T	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=474;ExcessHet=0;FS=0.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.762;SOR=0.532	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr11	8932248	8932248	G	T	exonic	C11orf16	.	nonsynonymous SNV	C11orf16:NM_020643:exon2:c.C61A:p.L21M	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0038	0.00339457	0.0065	0.0013	0.0030	0.0003	0.0155	0.0082	0.0069	0.0058	0.0045019	696	154602	rs147009902	0.0050	0.0050	0.0050	0.0051	0.0055	0.0049	0.0049	0.0054	0.0053	0.0010	0.0028	0.0012	0.0002	0.0080	0.0037	0.0055	0.0038	0.0044	0.0038	0.0038	0.0037	0.0039	0.0055	0.0035	0.0034	0.0051	0.0049	0.0010	0.0077	0.0028	0.0009	0	0.0076	0.0068	0.0055	0.0047	0.0023	0.033	0.45039	D	0.089	0.44302	T	0.996	0.77913	D	0.964	0.73562	D	0.078308	0.21051	N	0.347140	0.998944	0.21775	N	2.39	0.68882	M	1.32	0.35405	T	-0.84	0.23808	N	0.251	0.34981	-0.9698	0.37242	T	0.132	0.44347	T	10	0.0074902773	0.00170	T	.	.	.	0.106	0.30130	.	.	0.190952846119	0.18690	0.27289446184904287	0.27202	0.11670823845	0.13163	.	.	.	0.011669	0.10375	T	-0.456547	0.01032	T	-0.420613	0.31006	T	0.0143281226341598	0.00286	T	0.59564	0.22108	T	0.11766364	0.27736	0.09523284	0.22578	0.11766364	0.27736	0.09523284	0.22577	-5.729	0.43950	T	.	.	0.123	0.25689	B	.;.	.;.	2.465993	0.31778	18.84	0.99488971633795142	0.67347	0.51971	0.29021	D	AEFGBI	0.121485	0.23617	N	0.28911416094338	0.55596	3.723652	0.217155897170878	0.50797	3.268212	0.999957727734356	0.48110	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.19	4.26	0.49832	0.326000	0.19391	2.067000	0.30424	0.676000	0.76740	0.843000	0.30332	0.998000	0.33993	0.161000	0.20682	0.0:0.1744:0.8256:0.0	12.576	0.55717	434	0.80536	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004053	0.000000	0.005450	0.005848	0.050000	0.000000	0.006211	0.000000	0.05	1579.43	110	chr11	8932248	.	G	T	1579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.148;DP=485;ExcessHet=0;FS=1.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.57;SOR=0.854	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr11	10559867	10559867	G	A	exonic	LYVE1	.	nonsynonymous SNV	LYVE1:NM_006691:exon5:c.C731T:p.A244V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.0316624712336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1011426411	1.382e-05	1.372e-05	1.79e-05	9.716e-06	0.0009	9.03e-06	7.34e-06	0.0003	0.0002	3.015e-05	0	0	0	0	0.0009	1.184e-05	0	1.164e-05	1.322e-05	1.316e-05	1.291e-05	1.354e-05	1.473e-05	2.2e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.473e-05	0	0	0.116	0.91255	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	0.999982	0.54805	D	1.995	0.54099	M	2.74	0.57100	T	-1.72	0.74051	N	0.743	0.83371	-0.4509	0.70370	T	0.344	0.70940	T	10	0.7525157	0.75742	D	0.031662	0.53686	D	0.222	0.51872	0.383	0.40134	0.752590173691	0.75035	0.5316431793870309	0.53089	0.438298358417	0.43869	0.586091697216	0.50943	T	0.380784	0.74325	T	0.128026	0.67169	D	-0.0538753	0.66757	D	0.953589856624603	0.64061	D	0.849515	0.57326	T	0.22611228	0.45285	0.23588851	0.48845	0.22611228	0.45285	0.23588851	0.48844	-4.267	0.27712	T	.	.	0.576	0.75037	P	.;.	.;.	4.864352	0.79626	27.1	0.99869083234187406	0.94726	0.94107	0.60133	D	AEFI	0.863055	0.78149	D	0.767749876461228	0.84054	8.182144	0.746411232723111	0.85890	8.717017	0.934815928530212	0.27187	0.615465	0.37627	0	0.563428	0.19063	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.124000	0.71349	11.915000	0.99681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	18.043	0.89248	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	281.74	73	chr11	10559867	.	G	A	281.74	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.365;DP=886;ExcessHet=1.5895;FS=223.429;InbreedingCoeff=-0.333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.159;SOR=9.766	GT:AD:DP:GQ:PL	0/1:91,31:122:22:22,0,1567	4	0	4	2
chr11	10773236	10773236	C	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon20:c.C2618G:p.A873G,CTR9:NM_014633:exon21:c.C2690G:p.A897G	.	.	.	.	.	.	.	.	.	.	.	3050624	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.086	0.00240834594333	.	.	2.472e-05	0	8.652e-05	0	0	2.998e-05	0	0	1.94e-05	3	154602	rs763337986	2.259e-05	2.257e-05	2.179e-05	2.339e-05	6.977e-05	1.611e-05	1.417e-05	3.003e-05	2.043e-05	0	2.252e-05	0.0006	0	0	0	7.196e-06	3.313e-05	6.977e-05	3.285e-05	3.282e-05	2.571e-05	4.031e-05	.	1.261e-05	7.98e-06	.	.	0	0	0	0.0009	0	0	0	0	0.0009	0	0.389	0.10874	T	0.387	0.15650	T	0.0	0.02946	B	0.0	0.01387	B	0.002518	0.36425	N	0.309442	0.839081	0.28656	N	1.04	0.26193	L	0.81	0.48460	T	-1.6	0.38540	N	0.114	0.10198	-1.0540	0.13305	T	0.090	0.34491	T	10	0.03435436	0.01641	T	0.002408	0.04729	T	0.086	0.25016	0.119	0.02647	0.373580267183	0.36973	0.04003373297517994	0.03949	1.02953252697	0.75381	0.494958221912	0.38126	T	0.105661	0.41632	T	-0.396863	0.02428	T	-0.631996	0.10263	T	0.106911368668079	0.13100	T	0.760024	0.38453	T	0.1287514	0.30091	0.14093317	0.33577	0.1287514	0.30091	0.14093317	0.33576	-3.094	0.11227	T	.	.	0.084	0.09627	B	.	.	2.940658	0.39102	20.9	0.98910669769146797	0.48363	0.86701	0.46038	D	AEFBI	0.212009	0.33774	N	-0.0989562786846915	0.37437	2.178104	0.123992395968911	0.45779	2.835063	0.221493879505653	0.18360	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.01	0.66477	2.657000	0.46389	4.259000	0.42796	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.7756:0.2244:0.0	15.192	0.72739	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	126.43	35	chr11	10773236	.	C	G	126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.677;DP=342;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.72;ReadPosRankSum=-0.859;SOR=0.807	GT:AD:DP:GQ:PL	0/1:25,9:34:99:138,0,605	9	0	1	0
chr11	10779032	10779032	A	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.A3377G:p.E1126G,CTR9:NM_014633:exon25:c.A3449G:p.E1150G	.	430	1081	11	0	0	11	0.00506213	.	.	.	1156557	CTR9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00735543223924	0.0009	0.00159744	0.0013	0.0010	0.0022	0	0	0.0017	0.0022	0.0004	0.001313	203	154602	rs35023148	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0167	0.0156	0.0024	0.0029	0.0036	0	3.745e-05	0.0196	0.0009	0.0028	0.0004	0.0014	0.0014	0.0014	0.0014	0.0035	0.0013	0.0012	0.0027	0.0025	0.0009	0	0.0035	0.0026	0	0	0.0272	0.0014	0.0052	0.0004	0.191	0.21066	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.01387	B	0.000286	0.46274	D	0.251882	0.991945	0.41514	D	-0.46	0.02758	N	0.88	0.46028	T	0.1	0.05810	N	0.074	0.04790	-1.0621	0.11239	T	0.060	0.25018	T	10	0.007390231	0.00168	T	0.007355	0.19496	T	0.064	0.18567	.	.	0.279809986126	0.27602	0.12262613186542184	0.12188	0.284446444391	0.30868	0.429881513119	0.29193	T	0.038339	0.24803	T	-0.575505	0.00205	T	-0.6025	0.12602	T	0.0297061090305804	0.01944	T	0.814918	0.46941	T	0.06224066	0.12979	0.073870316	0.16098	0.06224066	0.12978	0.073870316	0.16098	-1.858	0.02688	T	.	.	0.060	0.00979	B	.	.	3.349515	0.46190	22.3	0.99559095297850686	0.71645	0.86493	0.45784	D	AEFBHCI	0.296098	0.40603	N	-0.339572229449747	0.27658	1.519175	-0.163911623868024	0.32876	1.874814	0.999999995954585	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.495000	0.60074	11.273000	0.91473	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.9279:0.0:0.0721:0.0	11.040	0.47042	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.050505	0.028533	0.046784	0.000000	0.034483	0.009146	0.003788	0.05	995.43	35	chr11	10779032	.	A	G	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.107;DP=368;ExcessHet=0;FS=5.332;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=-0.022;SOR=0.731	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	9	0	1	0
chr11	10779059	10779059	A	C	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.A3404C:p.E1135A,CTR9:NM_014633:exon25:c.A3476C:p.E1159A	.	.	.	.	.	.	.	.	.	.	.	3050854	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0148528791426	.	.	1.655e-05	0	0	0	0	3.012e-05	0	0	1.29e-05	2	154602	rs774578513	1.163e-05	1.163e-05	1.361e-05	9.625e-06	0.0002	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0.0002	1.349e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.393	0.15355	T	0.075	0.24198	B	0.018	0.18489	B	0.000005	0.62929	D	0.105892	0.998978	0.45795	D	0.345	0.11182	N	0.84	0.47477	T	-0.5	0.15782	N	0.384	0.42541	-1.0418	0.16770	T	0.099	0.36983	T	10	0.120449096	0.22815	T	0.014853	0.35231	T	0.137	0.36984	0.19	0.10039	0.465294880039	0.46155	0.2147700651752765	0.21393	0.221022129664	0.24653	0.523090183735	0.42061	T	0.045348	0.27096	T	-0.159364	0.26859	T	-0.359035	0.38163	T	0.218051465248334	0.21366	T	0.861914	0.55630	D	0.11490667	0.27122	0.13313723	0.31931	0.11490667	0.27121	0.13313723	0.31930	-5.88	0.45264	T	.	.	0.116	0.23325	B	.	.	3.971589	0.58326	24.0	0.99590441567830912	0.73572	0.97083	0.72590	D	AEFBHCI	0.857550	0.77493	D	0.0702311354467275	0.45077	2.770437	0.274792017092778	0.54072	3.57334	0.999999999875815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	6.690000	0.74396	11.273000	0.91473	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	1.0:0.0:0.0:0.0	15.932	0.79459	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	812.43	71	chr11	10779059	.	A	C	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.468;DP=382;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.621;SOR=0.458	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	9	0	1	0
chr11	12162246	12162246	G	A	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon1:c.G91A:p.A31T,MICAL2:NM_001282667:exon1:c.G91A:p.A31T,MICAL2:NM_001282664:exon2:c.G91A:p.A31T,MICAL2:NM_001282665:exon2:c.G91A:p.A31T,MICAL2:NM_001346292:exon2:c.G91A:p.A31T,MICAL2:NM_001346294:exon2:c.G91A:p.A31T,MICAL2:NM_001346298:exon2:c.G91A:p.A31T,MICAL2:NM_001282663:exon3:c.G91A:p.A31T,MICAL2:NM_001282668:exon3:c.G91A:p.A31T,MICAL2:NM_001346293:exon3:c.G91A:p.A31T,MICAL2:NM_001346295:exon3:c.G91A:p.A31T,MICAL2:NM_001346296:exon3:c.G91A:p.A31T,MICAL2:NM_001346297:exon3:c.G91A:p.A31T,MICAL2:NM_001346299:exon3:c.G91A:p.A31T,MICAL2:NM_014632:exon3:c.G91A:p.A31T	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.00808266473886	0.0004	.	0.0005	0	0.0005	0	0	0.0008	0.0011	0.0002	0.0004722	73	154602	rs200146203	0.0004	0.0004	0.0003	0.0004	0.0009	0.0003	0.0003	0.0006	0.0005	5.974e-05	0.0008	0.0088	0	0	0.0009	0.0002	0.0007	0.0003	0.0006	0.0006	0.0005	0.0007	0.0025	0.0005	0.0005	0.0019	0.0016	0	0	0.0025	0.0104	0	0	0	0.0002	0.0014	0.0002	0.277	0.44029	T	0.017	0.60337	D	0.946	0.53363	P	0.78	0.57283	P	0.000003	0.62929	D	0.059635	1	0.81001	D	2.52	0.73523	M	1.43	0.32958	T	-3.99	0.73893	D	0.713	0.71587	-0.9774	0.35593	T	0.183	0.53103	T	10	0.011146426	0.00245	T	0.008083	0.21418	T	0.334	0.65620	.	.	0.526232973257	0.52269	0.7189187545597616	0.71834	1.38635000545	0.84895	0.737376570702	0.72587	T	0.098828	0.40667	T	-0.133461	0.30936	T	-0.0475166	0.67192	D	0.116546905158825	0.14088	T	0.962304	0.85835	D	0.4384811	0.63304	0.42373607	0.66235	0.4384811	0.63305	0.42373607	0.66235	-9.996	0.73888	D	.	.	0.199	0.59177	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.670272	0.74633	26.2	0.99877991208321448	0.95491	0.99301	0.94181	D	AEFBI	0.914726	0.87849	D	0.72539311790473	0.81298	7.489242	0.761182380984499	0.86990	9.070072	1.0	0.98316	0.722319	0.85440	0	0.588066	0.40923	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.55	5.55	0.83298	10.003000	0.99689	11.815000	0.97057	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.291	0.94085	940	0.13648	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1409.43	36	chr11	12162246	.	G	A	1409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.103;DP=469;ExcessHet=0;FS=0.622;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=1.07;SOR=0.591	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1412	9	0	1	0
chr11	12209565	12209565	A	G	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon4:c.A658G:p.I220V,MICAL2:NM_001282667:exon4:c.A658G:p.I220V,MICAL2:NM_001282664:exon5:c.A658G:p.I220V,MICAL2:NM_001282665:exon5:c.A658G:p.I220V,MICAL2:NM_001346292:exon5:c.A658G:p.I220V,MICAL2:NM_001346294:exon5:c.A658G:p.I220V,MICAL2:NM_001346298:exon5:c.A658G:p.I220V,MICAL2:NM_001282663:exon6:c.A658G:p.I220V,MICAL2:NM_001346293:exon6:c.A658G:p.I220V,MICAL2:NM_001346295:exon6:c.A658G:p.I220V,MICAL2:NM_001346296:exon6:c.A658G:p.I220V,MICAL2:NM_001346297:exon6:c.A658G:p.I220V,MICAL2:NM_001346299:exon6:c.A658G:p.I220V,MICAL2:NM_014632:exon6:c.A658G:p.I220V	.	420	1073	26	3	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	.	0.0029	0.0127796	0.0095	0.0008	0.0021	0.0689	0.0094	0.0052	0.0110	0.0062	0.0088356	1366	154602	rs2306727	0.0063	0.0063	0.0062	0.0064	0.0900	0.0062	0.0062	0.0875	0.0865	0.0009	0.0019	0.0110	0.0900	0.0084	0.0161	0.0034	0.0063	0.0067	0.0055	0.0055	0.0050	0.0060	0.0687	0.0052	0.0051	0.0628	0.0605	0.0007	0	0.0012	0.0112	0.0687	0.0073	0.0034	0.0039	0.0090	0.0064	0.196	0.23095	T	0.414	0.18846	T	0.384	0.34453	B	0.275	0.40079	B	0.000009	0.62929	D	0.065055	8.13236e-05	0.53665	P	0.565	0.15224	N	-3.52	0.94729	D	-0.73	0.22078	N	0.182	0.19728	-0.1560	0.78769	T	0.169	0.50987	T	9	0.016178548	0.00340	T	.	.	.	0.392	0.70764	.	.	0.743643982366	0.74134	0.668593170123256	0.66797	0.417361578228	0.42357	0.365067064762	0.20121	T	0.029494	0.21121	T	-0.292411	0.09395	T	-0.105951	0.62932	T	0.0172870064269576	0.00469	T	0.926107	0.72788	D	0.06916211	0.15131	0.08680722	0.20137	0.06916211	0.15130	0.08680722	0.20136	-7.236	0.55739	T	.	.	0.091	0.24157	B	.;.;.	.;.;.	2.731477	0.35751	19.98	0.99595317556497898	0.73866	0.92954	0.56958	D	AEFGBI	0.590037	0.58668	D	0.0684662290078618	0.44996	2.763673	0.228118151901001	0.51414	3.324089	0.999999932732362	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	5.870000	0.69370	4.174000	0.42293	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.074	0.71728	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.005051	0.012228	0.035088	0.000000	0.017241	0.003049	0.018939	0.1	2877.12	100	chr11	12209565	.	A	G	2877.12	.	AC=2;AF=0.1;AN=20;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.77;SOR=0.909	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	9	1	0	0
chr11	13010508	13010508	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C932A:p.A311D	.	340	1165	16	1	0	18	0.0076661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00419329	0.0082	0	0.0112	0	0.0045	0.0146	0	0.0051	0.0018305	283	154602	rs200457508	0.0064	0.0062	0.0065	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0012	0.0030	0.0103	0	0.0024	0.0067	0.0073	0.0062	0.0017	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0036	0.0072	0	0.0017	0.0137	0.0067	0.0043	0.0017	.	.	.	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-1.5	0.00507	N	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.005890757	0.00132	T	.	.	.	.	.	.	.	0.17948927462	0.17512	0.19620850095321724	0.19537	.	.	0.728413641453	0.71275	T	0.011056	0.09913	T	-0.45404	0.01069	T	-0.419847	0.31093	T	.	.	.	0.305069	0.05837	T	0.19861113	0.41770	0.29247585	0.55275	0.19861113	0.41770	0.29247585	0.55274	-3.397	0.15016	T	.	.	0.057	0.00604	B	.	.	1.401140	0.18154	13.58	0.84258461742934376	0.15187	0.06341	0.12339	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.99999994688726	0.74766	0.095506	0.02484	0	0.085267	0.02369	0	0.183864	0.04481	0	0.109499	0.03221	0	0.127789	0.25488	5.06	2.67	0.30756	3.014000	0.49278	7.021000	0.57267	-0.062000	0.16622	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.6881:0.3119:0.0:0.0	10.507	0.44026	898	0.25240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007206	0.005556	0.006270	0.000000	0.000000	0.009434	0.019868	0.004065	0.1	2040.14	33	chr11	13010508	.	C	A	2040.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.678;DP=464;ExcessHet=0.2348;FS=7.592;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.784;SOR=0.83	GT:AD:DP:GQ:PL	0/1:34,38:72:99:933,0,930	8	0	2	0
chr11	14644529	14644529	T	C	exonic	PDE3B	.	nonsynonymous SNV	PDE3B:NM_000922:exon1:c.T454C:p.W152R,PDE3B:NM_001363569:exon1:c.T454C:p.W152R,PDE3B:NM_001363570:exon1:c.T454C:p.W152R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.520971120619	.	.	3.075e-05	0	0	0	0	5.61e-05	0	0	1.29e-05	2	154602	rs746311720	1.789e-05	1.779e-05	2.052e-05	1.523e-05	0.0003	1.245e-05	1.058e-05	6.109e-05	2.528e-05	3.013e-05	0	0	0	0	0.0003	1.715e-05	3.337e-05	2.352e-05	3.944e-05	3.94e-05	3.856e-05	4.036e-05	7.353e-05	1.716e-05	1.13e-05	2.847e-05	1.859e-05	2.413e-05	0	0	0	0	0	0	7.353e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	0.978	0.58756	D	0.758	0.56327	P	0.000000	0.00162	N	13.498800	0.987705	0.24489	N	1.845	0.48678	L	0.11	0.61677	T	-1.35	0.33598	N	0.728	0.72925	-0.9542	0.40238	T	0.215	0.57679	T	10	0.7093792	0.72945	D	0.520971	0.95445	D	0.340	0.66202	0.638	0.77470	0.615873902259	0.61277	0.5828843999050018	0.58217	0.773214967607	0.64879	0.757962822914	0.75626	T	0.396918	0.75542	T	-0.124288	0.32423	T	-0.232292	0.51549	T	0.358365088701248	0.27345	T	0.281272	0.04917	T	0.29245445	0.52220	0.25064304	0.50659	0.29245445	0.52220	0.25064304	0.50658	-2.58	0.06352	T	.	.	0.490	0.70682	A	.;.	.;.	3.340659	0.46033	22.2	0.965107362875949	0.30076	0.92586	0.56060	D	ALL	0.226308	0.35028	N	-0.311101845148786	0.28726	1.586814	-0.358184503775167	0.26257	1.449118	0.999999981613552	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.89	1.3	0.20778	2.271000	0.43023	4.614000	0.44048	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.173:0.1039:0.1779:0.5451	1.437	0.02204	354	0.85282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1346.43	33	chr11	14644529	.	T	C	1346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.198;DP=421;ExcessHet=0;FS=4.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-2.128;SOR=0.487	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1202	9	0	1	0
chr11	17014193	17014193	A	G	exonic	PLEKHA7	.	nonsynonymous SNV	PLEKHA7:NM_001329630:exon2:c.T95C:p.L32P,PLEKHA7:NM_001329631:exon2:c.T95C:p.L32P,PLEKHA7:NM_175058:exon2:c.T95C:p.L32P	.	415	1105	1	0	1	2	0.000452284	.	.	.	2376473	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.746501511139	.	.	0.0002	0	0.0001	0.0001	0	9.669e-05	0	0.0006	0.0001164	18	154602	rs200126779	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	9.717e-05	0.0006	0.0004	0.0002	2.323e-05	3.961e-05	0.0001	1.972e-05	0.0013	0.0001	0.0001	0.0003	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.753e-05	0.0002	0.0001	0.0003	0	6.554e-05	0	0	0	0	0.0001	0.0005	0	0.097	0.30943	T	0.061	0.45530	T	0.16	0.28337	B	0.062	0.26930	B	0.960443	0.07714	U	1.025670	0.996164	0.43052	D	0.695	0.17993	N	3.31	0.06291	T	0.07	0.06138	N	0.493	0.62526	-1.0372	0.18171	T	0.067	0.27468	T	10	0.23530874	0.40589	T	0.746502	0.97975	D	0.158	0.41098	.	.	0.402326594622	0.39847	0.5457155516264652	0.54497	0.390989153767	0.40301	0.902038574219	0.96663	D	0.003237	0.11321	T	-0.406071	0.02112	T	-0.504914	0.21839	T	0.030687314316656	0.02096	T	0.781022	0.41604	T	0.11614512	0.27398	0.08078436	0.18303	0.11614512	0.27398	0.08078436	0.18303	-7.298	0.56181	T	.	.	0.419	0.60608	A	.;.	.;.	3.818022	0.55117	23.6	0.96300482324337777	0.29344	0.12803	0.17489	N	AEFDBHCI	0.063436	0.12257	N	-0.356335686438623	0.27041	1.480453	-0.391643295804421	0.25245	1.387156	0.99999953221771	0.74766	0.789315	0.99827	0	0.706955	0.78570	0	0.768056	0.98339	0	0.604282	0.37693	0	.	.	3.15	0.199	0.14453	0.623000	0.24141	1.736000	0.28364	0.465000	0.21702	0.682000	0.28457	1.000000	0.68203	0.980000	0.58198	0.2253:0.3271:0.2636:0.184	0.735	0.00903	658	0.62094	WW domain|WW domain|WW domain;WW domain|WW domain|WW domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	768.43	76	chr11	17014193	.	A	G	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.68;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.744;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr11	17169343	17169343	A	C	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_002645:exon2:c.T399G:p.F133L,PIK3C2A:NM_001321378:exon3:c.T399G:p.F133L	.	433	1053	34	2	0	38	0.0177239	.	.	.	1165988	PIK3C2A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00620170565584	0.0024	0.00139776	0.0034	0.0002	0.0031	0	0.0002	0.0034	0.0022	0.0087	0.0030983	479	154602	rs61755370	0.0029	0.0029	0.0026	0.0031	0.0215	0.0028	0.0028	0.0184	0.0173	0.0005	0.0022	0.0062	2.519e-05	5.616e-05	0.0215	0.0026	0.0033	0.0085	0.0020	0.0020	0.0020	0.0019	0.0062	0.0018	0.0017	0.0045	0.0039	0.0005	0	0.0010	0.0052	0	0	0.0068	0.0030	0.0047	0.0062	1.0	0.00964	T	0.666	0.06386	T	0.0	0.02946	B	0.0	0.01387	B	0.071503	0.21468	N	0.484862	1	0.81001	D	-1.7	0.00354	N	0.18	0.60361	T	-0.81	0.22294	N	0.043	0.01577	-1.0351	0.18825	T	0.056	0.23413	T	10	0.005002916	0.00108	T	0.006202	0.16259	T	0.040	0.10527	0.206	0.12216	0.425028116352	0.42120	0.06770891272091872	0.06708	0.162565464349	0.18344	0.315131723881	0.12682	T	0.201752	0.55973	T	-0.562616	0.00245	T	-0.575245	0.14972	T	0.00101883968607446	0.00010	T	0.448855	0.12628	T	0.036350515	0.04456	0.0372242	0.03330	0.04768015	0.08187	0.034424357	0.02508	-2.401	0.05139	T	.	.	0.122	0.25495	B	.	.	1.767237	0.22475	15.64	0.50465812015812517	0.04389	0.95000	0.63075	D	AEFBI	0.221574	0.34618	N	-0.863211492479093	0.11727	0.5674938	-0.636104647056497	0.18567	0.9924833	0.988174571734358	0.31436	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	1.45	0.21708	1.968000	0.40124	3.318000	0.37521	-0.122000	0.13826	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.6581:0.0:0.2145:0.1274	5.542	0.16331	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016616	0.000000	0.014946	0.023392	0.000000	0.051724	0.021341	0.018939	0.05	1669.43	35	chr11	17169343	.	A	C	1669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=418;ExcessHet=0;FS=5.108;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=0.063;SOR=0.9	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	9	0	1	0
chr11	17498233	17498233	C	T	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon18:c.G1462A:p.G488S,USH1C:NM_005709:exon19:c.G1519A:p.G507S,USH1C:NM_153676:exon24:c.G2419A:p.G807S	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	YES	175815	Usher_syndrome_type_1C|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_18A|Usher_syndrome_type_1|not_specified	MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.109349090083	0.0002	.	0.0001	0	0.0003	0.0002	0	0.0001	0	0.0002	0.0001294	20	154602	rs142652588	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	5.974e-05	0.0004	0	0.0003	0	0.0003	0.0002	6.623e-05	0.0003	0.0001	0.0001	0.0002	0.0001	0.0008	9.144e-05	7.7e-05	0.0003	0.0002	2.407e-05	0	0	0	0.0002	0	0	0.0002	0.0005	0.0008	0.004	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.998734	0.45356	D	2.55	0.74443	M	0.81	0.48460	T	-2.69	0.57435	D	0.774	0.80375	-0.3729	0.72872	T	0.316	0.68549	T	10	0.74522996	0.75240	D	0.109349	0.78627	D	0.367	0.68670	.	.	0.719432377758	0.71696	0.7664917708567068	0.76598	0.388010301035	0.40068	0.701587080956	0.67373	T	0.174063	0.52316	T	-0.0498031	0.44478	T	0.0378563	0.72788	D	0.515302062034607	0.33192	D	0.986401	0.95374	D	0.50774044	0.67548	0.3162165	0.57604	0.50774044	0.67549	0.3162165	0.57603	-8.824	0.66557	D	.	.	0.198	0.53064	B	.;.;.;.	.;.;.;.	3.878648	0.56357	23.7	0.99845656082863699	0.92576	0.83908	0.42999	D	ALL	0.892883	0.83026	D	0.688400180627552	0.78871	6.959885	0.653207661435256	0.78851	6.959909	0.999999999999979	0.74766	0.696267	0.57585	0	0.59043	0.45803	0	0.691665	0.62940	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	4.783000	0.62096	3.276000	0.37195	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.549000	0.30150	0.0:1.0:0.0:0.0	17.687	0.88164	830	0.39242	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2370.43	217	chr11	17498233	.	C	T	2370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=837;ExcessHet=0;FS=0.499;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.79;SOR=0.683	GT:AD:DP:GQ:PL	0/0:186,0:186:99:0,120,1800	9	0	1	0
chr11	17501054	17501054	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon17:c.C1420T:p.H474Y,USH1C:NM_005709:exon18:c.C1477T:p.H493Y,USH1C:NM_153676:exon23:c.C2377T:p.H793Y	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	918345	not_specified|Usher_syndrome_type_1|Usher_syndrome_type_1C|Autosomal_recessive_nonsyndromic_hearing_loss_18A|not_provided|Retinal_dystrophy|Inborn_genetic_diseases	MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011192,MedGen:C1865870,OMIM:602092,Orphanet:90636|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0368156333547	7.7e-05	.	5.483e-05	0	0	0	0	9.962e-05	0	0	3.88e-05	6	154602	rs372227474	5.613e-05	5.746e-05	5.857e-05	5.366e-05	0.0042	4.613e-05	4.239e-05	0.0029	0.0024	0	0	0	0	0	0.0042	4.588e-05	8.284e-05	2.321e-05	5.251e-05	5.249e-05	6.422e-05	4.027e-05	0.0001	2.555e-05	1.828e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.003	0.91255	D	0.0	0.92824	D	0.991	0.64070	D	0.99	0.78936	D	0.001912	0.37691	N	0.230078	0.999886	0.50402	D	1.905	0.50856	L	1.56	0.29602	T	-2.87	0.62343	D	0.802	0.79792	-0.8962	0.48370	T	0.183	0.53057	T	10	0.75131774	0.75658	D	0.036816	0.57230	D	0.178	0.44724	.	.	0.697512050345	0.69490	0.7534891188033478	0.75295	0.412284758996	0.41973	0.696432709694	0.66629	T	0.217512	0.57998	T	-0.0460403	0.45046	T	-0.0885751	0.64270	T	0.416295014187817	0.29553	T	0.958704	0.85096	D	0.4117519	0.61538	0.3995185	0.64513	0.4117519	0.61538	0.3995185	0.64513	-8.618	0.65778	D	.	.	0.508	0.69115	A	.;.;.;.	.;.;.;.	4.564832	0.71961	25.8	0.99768482520986057	0.85666	0.97255	0.73611	D	AEFDBI	0.955033	0.97257	D	0.497460350861354	0.66941	5.015858	0.504125274649023	0.68267	5.196595	0.999999999729673	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	7.925000	0.86993	11.619000	0.93604	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.114000	0.18915	0.0:0.0:1.0:0.0	17.838	0.88618	835	0.38313	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.000000	0.000000	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	1203.43	34	chr11	17501054	.	G	A	1203.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.471;DP=441;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-1.317;SOR=0.703	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1046	9	0	1	0
chr11	17640948	17640948	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon50:c.G8083A:p.V2695M,OTOG:NM_001292063:exon51:c.G8047A:p.V2683M	Deafness, autosomal recessive 18B, Autosomal recessive	7	1513	1	1	0	3	0.000990426	.	.	.	3843895	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.187	0.11897358407	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989720036	3.94e-05	3.831e-05	3.252e-05	4.647e-05	0.0005	3.099e-05	2.781e-05	0.0001	7.636e-05	0	0	0	0	0	0.0005	4.542e-05	0	3.786e-05	2.627e-05	2.626e-05	3.853e-05	1.344e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.000171	0.48594	U	0.000000	0.999909	0.53665	D	2.83	0.82355	M	2.18	0.18875	T	-2.53	0.54864	D	0.69	0.69562	-1.0159	0.25045	T	0.110	0.39699	T	8	0.75772774	0.76109	D	0.118974	0.79916	D	0.187	0.46274	.	.	0.206339911435	0.20273	0.6255715220295376	0.62490	.	.	0.661301493645	0.61596	T	0.340961	0.70992	T	-0.164824	0.26019	T	-0.302077	0.44505	T	0.906364858150482	0.56036	D	0.89801	0.64352	D	0.27453652	0.50519	0.3152414	0.57511	0.27453652	0.50519	0.3152414	0.57511	-6.008	0.46347	T	.	.	0.360	0.57243	A	.;.	.;.	4.210524	0.63609	24.6	0.99813069434306834	0.89708	0.99253	0.93488	D	AEFDBI	0.755080	0.69476	D	0.2838531355805	0.55330	3.697088	0.263002238098182	0.53392	3.508451	0.996019052292943	0.34469	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	6.584000	0.73948	8.477000	0.77288	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.0:1.0:0.0	14.439	0.66879	677	0.60274	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2404.43	41	chr11	17640948	.	G	A	2404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.422;DP=524;ExcessHet=0;FS=0.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.77;SOR=0.771	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1399	9	0	1	0
chr11	17645856	17645856	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon55:c.G8690A:p.R2897H,OTOG:NM_001292063:exon56:c.G8654A:p.R2885H	Deafness, autosomal recessive 18B, Autosomal recessive	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.047195144698	.	.	0.0002	0	0	0	0	0.0002	0	0.0004	3.88e-05	6	154602	rs767373345	8.152e-05	7.798e-05	7.761e-05	8.554e-05	0.0004	6.899e-05	6.42e-05	0.0002	0.0001	9.494e-05	0	0	2.798e-05	0	0.0004	7.414e-05	0.0001	0.0003	3.942e-05	3.94e-05	3.854e-05	4.034e-05	0.0002	1.715e-05	1.129e-05	1.171e-05	6.25e-06	2.412e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.014	0.53172	D	0.0	0.92824	D	.	.	.	.	.	.	0.000026	0.55875	U	0.000000	1	0.81001	D	1.905	0.50856	L	2.14	0.19450	T	-2.41	0.52938	N	0.73	0.82358	-1.0766	0.08023	T	0.111	0.39888	T	8	0.6784022	0.71131	D	0.047195	0.62810	D	0.227	0.52620	0.656	0.79379	0.223847106136	0.22009	0.4447327900146119	0.44391	.	.	0.760700702667	0.76033	T	0.29957	0.67210	T	-0.12825	0.31778	T	-0.103926	0.63091	T	0.375277131795883	0.28001	T	0.952005	0.82399	D	0.17419085	0.38209	0.14289273	0.33979	0.17419085	0.38209	0.14289273	0.33978	-7.684	0.58896	D	.	.	0.242	0.47589	B	.;.	.;.	5.388667	0.90281	31	0.99939740096929097	0.99767	0.98528	0.83745	D	AEFBI	0.880594	0.80735	D	0.485651550680925	0.66251	4.926178	0.530382205215658	0.70045	5.447695	0.999999999819551	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	9.163000	0.93904	9.827000	0.81838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:0.0:1.0:0.0	18.949	0.92607	686	0.59327	Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4090.14	172	chr11	17645856	.	G	A	4090.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.994;DP=611;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.11;SOR=0.718	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	8	0	2	0
chr11	18266930	18266930	G	A	exonic	SAA1	.	nonsynonymous SNV	SAA1:NM_000331:exon2:c.G43A:p.G15S,SAA1:NM_199161:exon2:c.G43A:p.G15S,SAA1:NM_001178006:exon3:c.G43A:p.G15S	.	423	1096	1	2	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00108374847703	.	.	.	.	.	.	.	.	.	.	0.0001617	25	154602	rs1232745554	4.381e-05	0.0002	3.542e-05	5.229e-05	0.0002	3.511e-05	3.195e-05	9.769e-05	7.075e-05	0.0002	2.24e-05	0	0.0002	1.873e-05	0.0002	2.789e-05	4.973e-05	0.0002	0.0001	0.0004	0.0001	8.171e-05	0.0003	7.171e-05	5.913e-05	0.0002	0.0001	0.0003	0	6.668e-05	0	0.0002	0	0	4.43e-05	0	0	0.069	0.35537	T	0.26	0.23029	T	.	.	.	.	.	.	0.017200	0.27786	N	0.327305	1	0.08975	N	.	.	.	2.99	0.09262	T	-2.26	0.50502	N	0.184	0.19995	-1.0281	0.21070	T	0.037	0.15770	T	10	0.10991129	0.20522	T	0.001084	0.01263	T	0.074	0.21613	.	.	0.0482279557977	0.04254	0.42126354584362224	0.42042	1.66538413369	0.89783	0.390446513891	0.23733	T	0.043619	0.26560	T	-0.242678	0.15010	T	-0.586367	0.13982	T	0.0552461020632602	0.06398	T	0.753225	0.38453	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.37783	B	.;.;.;.	.;.;.;.	2.066305	0.26275	17.06	0.88893743474431153	0.18341	0.17872	0.20023	N	AEFDBCI	0.206642	0.33289	N	-0.755394242206855	0.14486	0.7220595	-0.844312832100636	0.13424	0.6963066	0.007063394970045	0.11376	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.67	1.72	0.23498	0.691000	0.25147	2.658000	0.33861	0.591000	0.32079	0.641000	0.28093	0.481000	0.25102	0.102000	0.18378	0.1163:0.0:0.6669:0.2169	4.527	0.11390	840	0.37365	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	270.43	35	chr11	18266930	.	G	A	270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.75;DP=358;ExcessHet=0;FS=19.283;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.8;MQRankSum=-4.113;QD=5.01;ReadPosRankSum=-4.197;SOR=2.968	GT:AD:DP:GQ:PL	0/1:40,14:54:99:282,0,858	9	0	1	0
chr11	18282062	18282062	T	C	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon21:c.A2875G:p.M959V,HPS5:NM_181508:exon21:c.A2875G:p.M959V,HPS5:NM_181507:exon22:c.A3217G:p.M1073V	Hermansky-Pudlak syndrome 5	0	1521	1	0	0	1	0.000328623	.	.	.	724347	not_provided|HPS5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.026	.	0.0049	0.00599042	0.0013	0.0145	0.0005	0	0	4.495e-05	0	6.056e-05	0.0013001	201	154602	rs116394570	0.0004	0.0004	0.0004	0.0003	0.0130	0.0003	0.0003	0.0120	0.0116	0.0130	0.0007	0	0	0	0.0003	1.888e-05	0.0009	2.319e-05	0.0035	0.0035	0.0036	0.0033	0.0124	0.0032	0.0031	0.0115	0.0111	0.0124	0	0.0008	0	0	0	0	1.47e-05	0.0024	0	0.694	0.11050	T	0.489	0.54159	T	0.001	0.07471	B	0.001	0.04355	B	0.000548	0.43413	D	0.268098	0.995906	0.23169	N	0.9	0.23182	L	0.75	0.51228	T	-0.41	0.20791	N	0.164	0.22098	-1.0929	0.05066	T	0.026	0.10998	T	10	0.005221337	0.00114	T	.	.	.	0.026	0.05648	.	.	0.235664433957	0.23186	0.22051585028164383	0.21966	0.0526180103936	0.05794	0.360048741102	0.19392	T	0.075449	0.35180	T	-0.558289	0.00260	T	-0.563044	0.16093	T	0.000913649005847682	0.00009	T	0.764923	0.40460	T	0.028037569	0.02083	0.03297346	0.02118	0.028037569	0.02083	0.03297346	0.02117	-3.183	0.12274	T	.	.	0.062	0.02228	B	.;.;.;.	.;.;.;.	0.049184	0.04632	1.293	0.67396568941237145	0.08342	0.22199	0.21665	N	AEFDBI	0.077982	0.15723	N	-0.907812354292291	0.10658	0.5103875	-0.754786924378015	0.15605	0.8215428	0.850874839964972	0.25042	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	4.82	2.41	0.28644	0.064000	0.14310	-0.265000	0.10395	-0.155000	0.11859	0.194000	0.24237	0.483000	0.25112	0.987000	0.62547	0.1363:0.0747:0.1425:0.6465	3.420	0.06963	673	0.60677	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1906.43	33	chr11	18282062	.	T	C	1906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.099;DP=476;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.134;SOR=0.77	GT:AD:DP:GQ:PL	0/1:70,83:153:99:1918,0,1569	9	0	1	0
chr11	18285431	18285431	A	G	exonic	HPS5	.	nonsynonymous SNV	HPS5:NM_007216:exon19:c.T2524C:p.Y842H,HPS5:NM_181508:exon19:c.T2524C:p.Y842H,HPS5:NM_181507:exon20:c.T2866C:p.Y956H	Hermansky-Pudlak syndrome 5	2	1506	12	2	0	16	0.00528402	.	.	.	429220	Hermansky-Pudlak_syndrome_5|not_provided|not_specified|HPS5-related_disorder	MONDO:MONDO:0013557,MedGen:C3888004,OMIM:614074,Orphanet:231512,Orphanet:79430|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.311	0.01686253308	0.0007	0.000199681	0.0007	0	0.0010	0	0	0.0011	0.0011	0.0002	0.0006598	102	154602	rs147430035	0.0006	0.0006	0.0006	0.0006	0.0128	0.0005	0.0005	0.0105	0.0096	0.0002	0.0010	0.0053	0	0	0.0128	0.0004	0.0010	0.0005	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0004	9.62e-05	0	0.0005	0.0063	0	0	0.0068	0.0006	0	0.0002	0.126	0.27194	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.475	0.71894	M	0.52	0.55266	T	-1.35	0.57110	N	0.676	0.72746	-0.4875	0.69097	T	0.327	0.69521	T	10	0.0141662955	0.00298	T	0.016863	0.38312	T	0.311	0.63269	.	.	0.730142393092	0.72774	0.6193711826176054	0.61870	0.383554653902	0.39680	0.665621221066	0.62213	T	0.16206	0.53277	T	-0.155824	0.27404	T	-0.0529544	0.66820	D	0.0630222901789299	0.07636	T	0.928607	0.73726	D	0.22538932	0.45200	0.18101472	0.40938	0.22538932	0.45200	0.18101472	0.40938	-1.714	0.02266	T	.	.	0.473	0.63343	A	.;.;.;.;.	.;.;.;.;.	4.624670	0.73463	26.0	0.99857798657823793	0.93639	0.97527	0.75331	D	AEFBI	0.818814	0.73998	D	0.743020005856918	0.82450	7.765409	0.74312866208741	0.85641	8.642096	0.998768645352015	0.37623	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.83	5.83	0.93059	7.128000	0.76828	11.089000	0.85893	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.200	0.81882	666	0.61362	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010081	0.005051	0.012228	0.017647	0.000000	0.008621	0.006098	0.007576	0.1	1882.12	34	chr11	18285431	.	A	G	1882.12	.	AC=2;AF=0.1;AN=20;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.52;SOR=0.754	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	1	0	0
chr11	18534389	18534389	T	C	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon9:c.A799G:p.M267V,UEVLD:NM_001261382:exon10:c.A1123G:p.M375V,UEVLD:NM_001040697:exon11:c.A1189G:p.M397V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0223908065123	0.0002	0.000798722	9.956e-05	0.0004	0.0003	0	0	6.007e-05	0	0	0.0001035	16	154602	rs139529878	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	9.575e-05	0.0004	0.0004	0.0006	0.0002	0	0	0	0.0002	0.0001	0.0002	0	0.0002	0.0002	0.0002	0.0001	0.0011	0.0001	0.0001	0.0007	0.0006	0.0001	0	0.0011	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.045	0.49390	D	0.0	0.02946	B	0.003	0.08700	B	0.001033	0.40562	U	0.091344	1	0.81001	D	0.55	0.14455	N	-0.16	0.65378	T	-0.22	0.10656	N	0.316	0.35620	-1.0867	0.06102	T	0.074	0.29865	T	10	0.04354304	0.03214	T	0.022391	0.45274	T	0.087	0.25287	.	.	0.5343833383	0.53088	0.6589506091658408	0.65832	0.0905393262645	0.10218	0.308122903109	0.11623	T	0.05587	0.30129	T	-0.356042	0.04359	T	-0.447485	0.27976	T	0.0363160574007667	0.03035	T	0.79742	0.44691	T	0.5055728	0.67421	0.20492408	0.44639	0.5055728	0.67422	0.20492408	0.44638	-4.072	0.24876	T	.	.	0.079	0.07083	B	.;.	.;.	2.189636	0.27918	17.62	0.92492020171265366	0.21926	0.64353	0.32379	D	AEFDBHCI	0.103655	0.20761	N	-0.679751859449806	0.16599	0.8471754	-0.460617060565072	0.23248	1.26684	0.00420302364338145	0.10457	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.82	1.78	0.23918	1.061000	0.30152	2.188000	0.31185	-0.307000	0.06116	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2013:0.1169:0.5538:0.1281	3.064	0.05834	569	0.70546	Lactate/malate dehydrogenase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	557.43	33	chr11	18534389	.	T	C	557.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=396;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-1.044;SOR=0.79	GT:AD:DP:GQ:PL	0/1:61,32:93:99:569,0,1345	9	0	1	0
chr11	18546990	18546990	G	A	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon6:c.C386T:p.S129F,UEVLD:NM_001261382:exon7:c.C710T:p.S237F,UEVLD:NM_001261383:exon7:c.C710T:p.S237F,UEVLD:NM_001040697:exon8:c.C776T:p.S259F,UEVLD:NM_001261385:exon8:c.C662T:p.S221F,UEVLD:NM_018314:exon8:c.C776T:p.S259F	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.129833311953	.	.	8.247e-06	0	8.651e-05	0	0	0	0	0	6.5e-06	1	154602	rs764487329	1.026e-05	1.026e-05	8.168e-06	1.238e-05	0.0005	6.16e-06	4.89e-06	0.0001	7.541e-05	0	0.0001	0	0	0	0.0005	3.597e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.51853	D	0.02	0.59159	D	0.006	0.62824	B	0.01	0.59825	B	0.000065	0.52346	D	0.170690	0.997467	0.81001	D	1.61	0.41143	L	-2.35	0.88066	D	-3.04	0.62863	D	0.35	0.40963	0.599	0.91887	D	0.746	0.91344	D	10	0.35441732	0.52226	T	0.129833	0.81193	D	0.421	0.73005	0.391	0.41443	0.951309280753	0.95079	0.39889422173728595	0.39804	0.110335592621	0.12451	0.459997653961	0.33310	T	0.566792	0.85590	D	-0.0846845	0.38949	T	-0.183573	0.56191	T	0.886320412158966	0.53672	D	0.859914	0.55431	D	0.29229647	0.52205	0.24680896	0.50198	0.29229647	0.52205	0.24680896	0.50197	-6.161	0.47607	T	.	.	0.177	0.38676	B	.;.;.;.;.	.;.;.;.;.	3.849819	0.55766	23.7	0.99539901572916589	0.70461	0.90491	0.51711	D	AEFBI	0.496881	0.53164	N	0.274540039364621	0.54862	3.650867	0.404235088002068	0.61827	4.388552	0.0244315943846399	0.13578	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	3.297000	0.51517	6.668000	0.56269	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1326:0.8673:0.0	16.222	0.82086	569	0.70546	Lactate/malate dehydrogenase, N-terminal;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1349.43	34	chr11	18546990	.	G	A	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.473;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.102;SOR=0.714	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1217	9	0	1	0
chr11	18601155	18601155	C	T	exonic	SPTY2D1OS	.	nonsynonymous SNV	SPTY2D1OS:NM_001355570:exon2:c.C133T:p.R45W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs541920702	2.435e-05	2.863e-05	2.468e-05	2.403e-05	0.0005	9.75e-06	6.75e-06	0.0002	0.0001	0	0.0005	0	0	0	0	0	6.108e-05	0.0003	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	7.327e-05	3.042e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	.	.	.	0.105	0.38596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.17278	.	.	.	.	.	.	.	0.051512033	0.05044	T	.	.	.	.	.	.	.	.	.	0.007080570163792409	0.00675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524848	0.18126	T	0.107139565	0.25334	0.06073082	0.11612	0.107139565	0.25334	0.06073082	0.11611	-5.54	0.42241	T	.	.	0.087	0.14385	B	.;.;.	.;.;.	1.017883	0.13970	10.54	0.59146269116416184	0.06156	0.01321	0.04565	N	AEFI	.	.	.	.	.	.	.	.	.	0.00196456062506968	0.09045	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.121008	0.24743	3.83	-1.4	0.08499	-0.181000	0.09734	-0.956000	0.06796	-0.941000	0.02090	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.3755:0.3277:0.2968	4.204	0.09937	569	0.70546	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1215.43	34	chr11	18601155	.	C	T	1215.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=418;ExcessHet=0;FS=2.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=0.455;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	9	0	1	0
chr11	18615304	18615304	C	T	exonic	SPTY2D1	.	nonsynonymous SNV	SPTY2D1:NM_194285:exon3:c.G970A:p.V324I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00288936478833	0.0002	0.000998403	4.95e-05	0.0006	0	0	0	0	0	0	7.12e-05	11	154602	rs185536314	2.052e-05	2.052e-05	1.77e-05	2.338e-05	0.0008	1.456e-05	1.264e-05	0.0006	0.0005	0.0008	0	0	0	0	0	8.993e-07	3.311e-05	0	8.537e-05	8.531e-05	0.0001	6.714e-05	0.0003	4.954e-05	3.96e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0	0.414	0.10020	T	0.446	0.13103	T	0.001	0.07471	B	0.001	0.04355	B	0.992533	0.07912	N	1.003580	0.999959	0.19072	N	1.885	0.50048	L	1.91	0.23283	T	-0.23	0.10656	N	0.068	0.04072	-0.9960	0.31028	T	0.035	0.15204	T	10	0.009514272	0.00214	T	0.002889	0.06104	T	0.039	0.10176	.	.	0.043077524339	0.03247	0.11487532545430024	0.11415	0.133349588617	0.15016	0.297838807106	0.10080	T	6.68E-4	0.00291	T	-0.580407	0.00192	T	-0.755335	0.03282	T	0.0141529225833276	0.00277	T	0.578742	0.20864	T	0.04266186	0.06510	0.029109443	0.01214	0.04266186	0.06510	0.029109443	0.01214	-4.03	0.24251	T	.	.	0.071	0.03698	B	.	.	1.383943	0.17959	13.47	0.69296319928440941	0.08927	0.20822	0.21181	N	AEFGBCI	0.059673	0.11287	N	-0.838170852646708	0.12343	0.6010541	-0.734393338360492	0.16107	0.850472	0.999915400899173	0.45857	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.63	-0.0855	0.13020	0.368000	0.20132	1.034000	0.23503	-0.193000	0.09282	0.811000	0.29866	1.000000	0.68203	0.997000	0.79791	0.1049:0.4392:0.1031:0.3528	3.427	0.06986	607	0.67291	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2031.43	103	chr11	18615304	.	C	T	2031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.791;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.04;SOR=0.758	GT:AD:DP:GQ:PL	0/1:48,82:130:99:2043,0,1058	9	0	1	0
chr11	18714050	18714050	C	T	exonic	IGSF22	.	nonsynonymous SNV	IGSF22:NM_173588:exon14:c.G1897A:p.G633R	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	.	0.0074	0.00599042	0.0020	0.0207	0.0012	0	0	0.0003	0.0011	0	0.0019017	294	154602	rs77549097	0.0008	0.0008	0.0009	0.0007	0.0250	0.0008	0.0007	0.0236	0.0230	0.0250	0.0019	0.0029	0	0	0.0012	4.676e-05	0.0018	3.478e-05	0.0067	0.0067	0.0072	0.0062	0.0230	0.0064	0.0063	0.0218	0.0213	0.0230	0	0.0022	0.0029	0	0	0	0.0002	0.0076	0	0.062	0.36912	T	0.011	0.64786	D	.	.	.	.	.	.	0.218297	0.16199	U	0.446120	0.994731	0.23454	N	.	.	.	-1.32	0.79761	T	-2.37	0.52289	N	0.489	0.52297	-0.2254	0.77008	T	0.433	0.77407	T	10	0.012319565	0.00265	T	.	.	.	0.417	0.72705	0.897	0.97640	0.846330802285	0.84485	0.8708352432610548	0.87049	0.741416554675	0.63284	0.356907844543	0.18935	T	.	.	.	-0.444006	0.01225	T	-0.392975	0.34203	T	0.0508700672048969	0.05652	T	0.745725	0.36599	T	.	.	.	.	.	.	.	.	-13.086	0.89714	D	.	.	0.986	0.92555	P	.	.	3.507558	0.49099	22.7	0.99828994030310092	0.91112	0.82091	0.41373	D	AEFBCI	0.356773	0.44803	N	0.322689540933083	0.57315	3.89835	0.166997762749993	0.48048	3.026229	0.00210419183247763	0.09158	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.01	3.07	0.34476	3.440000	0.52649	0.844000	0.22071	0.587000	0.30956	0.998000	0.41325	0.104000	0.22711	0.851000	0.40252	0.0:0.9059:0.0:0.0941	10.397	0.43393	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.010101	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2787.43	45	chr11	18714050	.	C	T	2787.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.021;DP=701;ExcessHet=0;FS=0.486;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=1.07;SOR=0.752	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	9	0	1	0
chr11	19170459	19170459	C	G	exonic	ZDHHC13	.	nonsynonymous SNV	ZDHHC13:NM_001001483:exon14:c.C1133G:p.T378S,ZDHHC13:NM_019028:exon15:c.C1523G:p.T508S	.	445	1073	4	0	0	4	0.00186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00526072026179	0.0002	0.000599042	0.0011	0	0.0024	0	0	0.0002	0.0047	0.0024	0.0002393	37	154602	rs374897174	0.0004	0.0004	0.0003	0.0005	0.0022	0.0004	0.0004	0.0020	0.0019	3.481e-05	0.0001	0	0	0.0001	0.0019	0.0003	0.0004	0.0022	0.0003	0.0004	0.0003	0.0004	0.0021	0.0003	0.0002	0.0011	0.0008	2.653e-05	0	0.0002	0	0	0.0004	0.0084	0.0004	0.0005	0.0021	0.182	0.21801	T	0.774	0.05221	T	0.752	0.43309	P	0.469	0.46748	P	0.004988	0.33199	N	0.355633	0.856329	0.35309	D	1.54	0.38927	L	1.84	0.24656	T	-0.54	0.16598	N	0.332	0.37301	-1.0884	0.05804	T	0.060	0.25090	T	10	0.018202066	0.00394	T	0.005261	0.13433	T	0.087	0.25287	0.401	0.43081	0.355034743287	0.35107	0.3101790005881058	0.30930	0.0475580062136	0.05194	0.450753211975	0.32046	T	0.038912	0.25009	T	-0.414485	0.01856	T	-0.375419	0.36257	T	0.0510317921113974	0.05680	T	0.831417	0.49863	T	0.092803374	0.21779	0.073436834	0.15957	0.092803374	0.21779	0.073436834	0.15956	-6.105	0.47150	T	.	.	0.117	0.23570	B	.;.	.;.	3.216922	0.43812	21.8	0.99266459155181164	0.57390	0.91821	0.54335	D	AEFBI	0.471057	0.51676	N	0.143777940463934	0.48517	3.063059	0.243365319945503	0.52272	3.403236	0.834039795189788	0.24744	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	3.523000	0.53243	6.019000	0.52765	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	15.649	0.76828	667	0.61242	Palmitoyltransferase, DHHC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003229	0.005051	0.006024	0.008929	0.000000	0.000000	0.000000	0.000000	0.05	578.43	43	chr11	19170459	.	C	G	578.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.048;DP=409;ExcessHet=0;FS=2.198;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-1.366;SOR=0.679	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr11	19225795	19225795	A	G	exonic	E2F8	.	nonsynonymous SNV	E2F8:NM_001256371:exon11:c.T1963C:p.S655P,E2F8:NM_001256372:exon11:c.T1963C:p.S655P,E2F8:NM_024680:exon11:c.T1963C:p.S655P	.	.	.	.	.	.	.	.	.	.	.	2389802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00579651125938	.	0.000199681	7.416e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs574624357	5.883e-05	5.883e-05	4.22e-05	7.563e-05	0.0009	4.876e-05	4.496e-05	0.0008	0.0007	0	0	0	0	0	0	8.993e-07	6.623e-05	0.0009	4.599e-05	4.594e-05	5.142e-05	4.03e-05	0.0015	2.109e-05	1.527e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.371	0.11514	T	0.301	0.20293	T	0.029	0.19866	B	0.023	0.19966	B	0.009907	0.30147	N	0.330567	0.983489	0.24880	N	2.005	0.54552	M	2.17	0.19020	T	1.2	0.01078	N	0.168	0.17828	-1.0055	0.28307	T	0.116	0.41097	T	10	0.016543329	0.00349	T	0.005797	0.15072	T	0.024	0.04979	0.137	0.04097	0.102598925029	0.09809	0.5345000906547198	0.53375	0.181457915209	0.20398	0.475517243147	0.35440	T	0.048119	0.27924	T	-0.467109	0.00886	T	-0.580786	0.14474	T	0.0416804697073515	0.03997	T	0.568943	0.20238	T	0.1270276	0.29737	0.11958049	0.28862	0.1270276	0.29737	0.11958049	0.28861	-3.29	0.13608	T	.	.	0.060	0.00934	B	.;.;.	.;.;.	2.004284	0.25467	16.77	0.94633790645234928	0.25224	0.36581	0.25566	N	AEFBI	0.264682	0.38197	N	-0.0502776540141988	0.39590	2.337118	-0.0341825983667116	0.38181	2.245921	0.934404855114889	0.27169	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	5.8	3.49	0.39065	1.259000	0.32559	2.748000	0.34514	0.691000	0.84096	0.485000	0.26840	0.954000	0.29108	0.993000	0.69303	0.6846:0.0:0.3154:0.0	7.480	0.26571	841	0.37094	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4912.12	33	chr11	19225795	.	A	G	4912.12	.	AC=2;AF=0.1;AN=20;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.09;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1119	9	1	0	0
chr11	19949059	19949059	G	A	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_145117:exon10:c.G2624A:p.R875Q,NAV2:NM_182964:exon10:c.G2624A:p.R875Q,NAV2:NM_001111018:exon11:c.G2432A:p.R811Q,NAV2:NM_001244963:exon11:c.G2693A:p.R898Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0414227394037	0.0002	0.000199681	0.0001	0.0002	0	0.0016	0	0	0	7.043e-05	0.0001164	18	154602	rs201014298	6.115e-05	6.294e-05	5.873e-05	6.361e-05	0.0011	5.05e-05	4.692e-05	0.0008	0.0007	0.0002	0	0	0.0011	0	0	2.618e-05	4.993e-05	9.362e-05	0.0001	0.0001	0.0001	0.0001	0.0019	7.088e-05	5.745e-05	0.0010	0.0008	9.628e-05	0	6.534e-05	0	0.0019	0	0	1.47e-05	0.0005	0	0.006	0.65419	D	0.078	0.43721	T	0.995	0.77913	D	0.49	0.68939	P	0.000012	0.62929	D	0.000000	1	0.81001	D	2.645	0.77386	M	1.51	0.30937	T	-1.57	0.37955	N	0.515	0.54584	-1.0213	0.23292	T	0.149	0.47522	T	9	0.023302704	0.00606	T	0.041423	0.59921	D	0.201	0.48592	.	.	0.243187853663	0.23924	0.3410119060783501	0.34014	0.709207124474	0.61595	0.491287857294	0.37617	T	0.033369	0.50150	T	-0.106948	0.35274	T	0.0489732	0.73517	D	0.14243882894516	0.16483	T	0.917308	0.70348	D	0.15426962	0.34926	0.17259745	0.39527	0.15426962	0.34926	0.17259745	0.39526	-8.002	0.62888	D	.	.	0.130	0.33179	B	.;.;.;.;.;.	.;.;.;.;.;.	4.739443	0.76411	26.5	0.99955456139595533	0.99975	0.99552	0.97362	D	AEFBI	0.910666	0.86887	D	0.557696588901359	0.70553	5.518298	0.574801499378679	0.73137	5.921779	0.999999999999962	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	7.920000	0.86928	9.997000	0.83020	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.488	0.95031	875	0.30485	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1536.43	39	chr11	19949059	.	G	A	1536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=429;ExcessHet=0;FS=6.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.22;ReadPosRankSum=0.523;SOR=0.132	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr11	20652332	20652332	A	G	exonic	SLC6A5	.	nonsynonymous SNV	SLC6A5:NM_001318369:exon14:c.A1412G:p.Y471C,SLC6A5:NM_004211:exon15:c.A2114G:p.Y705C	Hyperekplexia 3, Autosomal recessive, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	791122	Hyperekplexia_3|not_provided	MONDO:MONDO:0013827,MedGen:C3553288,OMIM:614618,Orphanet:3197|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.956	.	7.7e-05	0.00399361	0.0027	0.0002	0.0002	0	0	2.997e-05	0	0.0197	0.0023092	357	154602	rs143918578	0.0011	0.0011	0.0007	0.0016	0.0176	0.0011	0.0011	0.0169	0.0166	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	2.788e-05	0.0016	0.0176	0.0006	0.0006	0.0003	0.0010	0.0180	0.0005	0.0005	0.0150	0.0138	7.227e-05	0	0	0	0	0	0	2.94e-05	0.0009	0.0180	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.17	0.97676	H	-1.34	0.79944	T	-6.45	0.91395	D	0.988	0.99611	0.798	0.94382	D	0.774	0.92304	D	10	0.015710473	0.00330	T	.	.	.	0.956	0.99253	.	.	0.96163882489	0.96122	0.9066680533180302	0.90639	0.857043523771	0.68784	0.756824374199	0.75457	T	0.571165	0.85803	D	0.0893005	0.63110	D	0.370434	0.91090	D	0.234165540141927	0.22148	T	0.885311	0.61048	D	0.8782721	0.89525	0.8246852	0.89840	0.8782721	0.89526	0.8246852	0.89841	-13.035	0.89507	D	.	.	0.773	0.76059	P	.	.	5.210900	0.87434	29.2	0.99840792394545741	0.92143	0.98515	0.83602	D	AEFBI	0.937357	0.93503	D	1.0121997460657	0.96108	14.30987	0.9447557628021	0.97245	15.81222	0.999049120122901	0.38290	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.88	5.88	0.94564	8.880000	0.92035	11.286000	0.91899	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.349	0.83004	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.1	7256.12	40	chr11	20652332	.	A	G	7256.12	.	AC=2;AF=0.1;AN=20;DP=597;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.49;SOR=1.278	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1104	9	1	0	0
chr11	22218262	22218262	A	G	exonic	ANO5	.	nonsynonymous SNV	ANO5:NM_001142649:exon4:c.A152G:p.N51S,ANO5:NM_213599:exon4:c.A155G:p.N52S	Gnathodiaphyseal dysplasia, Autosomal dominant;Miyoshi muscular dystrophy 3, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2L, Autosomal recessive	2	1504	16	0	0	16	0.00529101	.	.	YES	194564	Gnathodiaphyseal_dysplasia|not_provided|not_specified|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2L|ANO5-Related_Muscle_Diseases	MONDO:MONDO:0008151,MedGen:C1833736,OMIM:166260,Orphanet:53697|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012652,MedGen:C1969785,OMIM:611307,Orphanet:206549|MedGen:CN180644	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0771798226101	0.0025	0.00119808	0.0019	0.0007	0.0023	0	0.0012	0.0024	0.0055	0.0016	0.0020181	312	154602	rs143777403	0.0028	0.0028	0.0027	0.0028	0.0045	0.0027	0.0027	0.0032	0.0030	0.0006	0.0021	3.83e-05	0	0.0013	0.0045	0.0031	0.0028	0.0023	0.0024	0.0024	0.0026	0.0022	0.0048	0.0022	0.0021	0.0039	0.0036	0.0008	0	0.0048	0.0003	0	0.0009	0	0.0034	0.0033	0.0021	0.155	0.24183	T	0.354	0.17268	T	0.982	0.60036	D	0.473	0.46845	P	0.000094	0.51296	D	0.136478	0.867587	0.35502	D	1.28	0.32218	L	-0.55	0.71068	T	-1.51	0.36787	N	0.828	0.82358	-0.5162	0.68058	T	0.288	0.65968	T	10	0.037495136	0.02108	T	0.07718	0.72709	D	0.167	0.42761	.	.	0.855486035999	0.85409	0.31611475711489445	0.31524	0.41921375861	0.42481	0.45931917429	0.33217	T	0.059543	0.31144	T	-0.472193	0.00824	T	-0.451569	0.27523	T	0.0119192627461977	0.00186	T	0.735226	0.35154	T	0.11971893	0.28185	0.14512795	0.34431	0.11971893	0.28184	0.14512795	0.34430	-3.364	0.14576	T	.	.	0.116	0.23360	B	.	.	3.078039	0.41394	21.3	0.99346575813317328	0.60412	0.97183	0.73178	D	AEFI	0.677588	0.64224	D	0.406070488179022	0.61755	4.381049	0.483276382154926	0.66882	5.010275	0.973475985227051	0.29459	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	5.87	0.94266	6.137000	0.71462	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.281	0.82514	795	0.45444	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	3586.43	39	chr11	22218262	.	A	G	3586.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=652;ExcessHet=0;FS=0.42;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.267;SOR=0.65	GT:AD:DP:GQ:PL	0/1:144,155:299:99:3598,0,3141	9	0	1	0
chr11	26561115	26561115	G	A	exonic	MUC15	.	nonsynonymous SNV	MUC15:NM_001135092:exon4:c.C886T:p.R296C,MUC15:NM_145650:exon4:c.C955T:p.R319C,MUC15:NM_001135091:exon5:c.C1036T:p.R346C	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0110477156131	.	0.000599042	0.0005	9.625e-05	8.685e-05	0.0056	0	6.007e-05	0	6.066e-05	0.0003881	60	154602	rs149979406	9.791e-05	9.919e-05	9.401e-05	0.0001	0.0016	8.451e-05	7.928e-05	0.0013	0.0012	8.996e-05	4.478e-05	0	0.0016	0	0.0003	5.31e-05	0.0001	4.645e-05	0.0001	0.0001	0.0001	0.0001	0.0027	9.156e-05	7.71e-05	0.0016	0.0013	0.0001	0	0	0	0.0027	0	0	2.944e-05	0	0	0.002	0.72154	D	0.006	0.70582	D	0.006	0.13644	B	0.007	0.12992	B	0.252976	0.15470	N	0.571784	1	0.08975	N	1.04	0.26193	L	1.74	0.26301	T	-2.39	0.61580	N	0.073	0.11626	-1.0221	0.23031	T	0.034	0.14552	T	10	0.004739642	0.00100	T	0.011048	0.28270	T	0.021	0.04004	.	.	0.0611884634855	0.05136	0.47804642342411097	0.47724	0.0471200179943	0.05133	0.193250656128	0.00288	T	0.087706	0.39773	T	-0.576859	0.00201	T	-0.597809	0.12995	T	0.0454294163509872	0.04681	T	0.873013	0.58094	D	0.12701312	0.29733	0.09772295	0.23272	0.12701312	0.29733	0.09772295	0.23272	-4.873	0.35430	T	.	.	0.111	0.49893	B	.;.;.;.;.	.;.;.;.;.	1.629266	0.20803	14.92	0.9880115934476752	0.46461	0.05860	0.11805	N	AEFHCI	0.109270	0.21709	N	-0.801423141109349	0.13274	0.6527454	-0.802133587227565	0.14445	0.754721	0.014187621504165	0.12564	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	2.16	0.26663	0.324000	0.19357	2.763000	0.34618	0.618000	0.50648	0.000000	0.06391	0.243000	0.23865	0.430000	0.27449	0.258:0.1363:0.4661:0.1397	1.825	0.02929	834	0.38640	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	791.43	102	chr11	26561115	.	G	A	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=407;ExcessHet=0;FS=1.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.76;ReadPosRankSum=1.3;SOR=0.615	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	9	0	1	0
chr11	26721693	26721693	C	T	exonic	SLC5A12	.	nonsynonymous SNV	SLC5A12:NM_178498:exon1:c.G22A:p.V8I	.	425	1060	36	1	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0025	0.0203674	0.0088	0.0031	0.0022	0.0611	0.0032	0.0044	0.0079	0.0092	0.0085769	1326	154602	rs113908376	0.0055	0.0055	0.0053	0.0057	0.0777	0.0054	0.0053	0.0754	0.0745	0.0045	0.0026	0.0129	0.0777	0.0034	0.0415	0.0023	0.0088	0.0097	0.0059	0.0059	0.0059	0.0059	0.0662	0.0056	0.0055	0.0604	0.0582	0.0035	0	0.0031	0.0130	0.0662	0.0024	0.0442	0.0031	0.0090	0.0112	0.27	0.17069	T	0.246	0.23984	T	0.027	0.19556	B	0.015	0.17295	B	0.750577	0.09703	N	0.877530	1	0.08975	N	0.885	0.21608	L	-1.95	0.85003	D	-0.65	0.18877	N	0.04	0.03613	-0.9578	0.39589	T	0.086	0.33522	T	10	0.0024740994	0.00037	T	.	.	.	0.132	0.35948	.	.	0.163833314356	0.15978	0.06215875893013715	0.06155	0.154448843171	0.17448	0.238343030214	0.02643	T	0.006942	0.06364	T	-0.539797	0.00336	T	-0.4725	0.25246	T	0.00137920736496509	0.00014	T	0.448855	0.12628	T	0.033720206	0.03648	0.04206866	0.04925	0.033720206	0.03647	0.04206866	0.04925	-4.289	0.28023	T	.	.	0.072	0.07083	B	.;.	.;.	0.922954	0.12977	9.485	0.84574392258224262	0.15372	0.14310	0.18335	N	AEFI	0.172967	0.30002	N	-1.43860197420556	0.02308	0.1017523	-1.35497813986167	0.03747	0.1754482	0.25811658146829	0.18758	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.59	2.53	0.29594	0.132000	0.15716	0.811000	0.21752	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.1026:0.6453:0.1004:0.1517	6.128	0.19406	759	0.50631	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.044814	0.020202	0.046196	0.114035	0.050000	0.051724	0.015244	0.026515	0.05	1602.43	35	chr11	26721693	.	C	T	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.051;DP=419;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=-0.708;SOR=0.542	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1125	9	0	1	0
chr11	30010855	30010855	C	G	exonic	KCNA4	.	nonsynonymous SNV	KCNA4:NM_002233:exon2:c.G1824C:p.K608N	.	237	1276	9	0	0	9	0.00351425	.	.	.	1017444	not_provided|Microcephaly,_cataracts,_impaired_intellectual_development,_and_dystonia_with_abnormal_striatum	MedGen:C3661900|MONDO:MONDO:0032656,MedGen:C4748984,OMIM:618284	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.293	0.0633115046288	0.0002	.	0.0004	0	0.0009	0	0	0.0005	0	0.0007	0.0004075	63	154602	rs200225575	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0064	0.0058	8.961e-05	0.0009	0.0002	0	0	0.0083	0.0003	0.0007	0.0007	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0001	4.826e-05	0	0.0003	0	0	9.42e-05	0.0032	0.0002	0.0005	0.0006	0.02	0.49613	D	0.091	0.40110	T	0.006	0.13644	B	0.017	0.18140	B	0.002610	0.36243	N	0.255014	0.999726	0.48557	D	2.19	0.61577	M	-4.25	0.97054	D	-1.72	0.40850	N	0.396	0.43706	0.606	0.91977	D	0.843	0.94746	D	10	0.06741822	0.09390	T	0.063312	0.68928	D	0.293	0.61272	0.183	0.09131	0.795632351168	0.79372	0.7613484547370747	0.76082	1.49335097258	0.86919	0.819486379623	0.84950	D	0.283499	0.65626	T	-0.183745	0.23179	T	-0.12707	0.61216	T	0.0640718430831821	0.07793	T	0.885811	0.61165	D	0.19404025	0.41138	0.14755045	0.34913	0.19404025	0.41138	0.14755045	0.34912	-4.413	0.29733	T	.	.	0.802	0.77376	P	.	.	2.851868	0.37657	20.5	0.99799766588867433	0.88461	0.98131	0.79864	D	AEFBI	0.599396	0.59243	D	-0.0327497831696494	0.40376	2.396729	0.111951538515765	0.45160	2.784062	1.22090592734743E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	4.79	0.60909	1.963000	0.40076	1.434000	0.26471	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8007:0.0:0.1993	9.610	0.38824	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.011696	0.000000	0.000000	0.003049	0.000000	0.05	2279.43	34	chr11	30010855	.	C	G	2279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.121;DP=511;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.101;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1193	9	0	1	0
chr11	31102205	31102205	T	C	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_001367979:exon15:c.A1955G:p.D652G	.	442	1075	4	1	0	6	0.00278293	.	.	.	3211206	DCDC1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0042	0.00279553	0.0074	0.0007	0.0051	0.0012	0.0091	0.0112	0.0099	0.0032	0.00315	487	154602	rs183555899	0.0043	0.0043	0.0042	0.0045	0.0054	0.0042	0.0041	0.0052	0.0051	0.0008	0.0024	0.0045	0.0002	0.0064	0.0015	0.0054	0.0041	0.0026	0.0035	0.0035	0.0034	0.0035	0.0055	0.0032	0.0031	0.0050	0.0048	0.0009	0	0.0025	0.0040	0.0004	0.0036	0	0.0055	0.0019	0.0050	.	.	.	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	0.45636	T	.	.	.	0.548	0.57433	.	.	.	.	.	.	.	0.009990722	0.00224	T	.	.	.	.	.	.	.	0.562131562789	0.55876	.	.	.	.	0.353466331959	0.18431	T	.	.	.	-0.436637	0.01353	T	-0.394707	0.34001	T	.	.	.	0.518948	0.16858	T	.	.	.	.	.	.	.	.	-3.798	0.20775	T	.	.	0.171	0.37577	B	.	.	3.046077	0.40854	21.2	0.88470436198428626	0.18002	0.71361	0.34980	D	AEFI	0.099478	0.20023	N	.	.	.	.	.	.	5.33723297510802E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.11	3.96	0.45097	2.161000	0.41985	2.191000	0.31208	0.665000	0.62972	0.950000	0.33075	0.056000	0.21938	0.899000	0.43558	0.0:0.0:0.1739:0.8261	10.246	0.42521	379	0.83778	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	680.43	36	chr11	31102205	.	T	C	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.647;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.319;SOR=0.646	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr11	31430384	31430384	C	T	exonic	DNAJC24	.	nonsynonymous SNV	DNAJC24:NM_181706:exon5:c.C433T:p.L145F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0243026690673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.012	0.63918	D	.	.	.	.	.	.	0.000578	0.43250	D	0.189991	0.745763	0.33872	D	.	.	.	1.45	0.32482	T	-2.07	0.47344	N	0.238	0.26837	-1.0248	0.22148	T	0.099	0.36856	T	10	0.25963157	0.43402	T	0.024303	0.47287	T	0.159	0.41286	.	.	0.483301346737	0.47961	0.628431862284808	0.62776	0.421294858915	0.42638	0.452863872051	0.32335	T	0.338285	0.70757	T	-0.181412	0.23525	T	-0.498362	0.22517	T	0.768617601559289	0.44356	D	0.743326	0.36245	T	0.093211345	0.21886	0.11312494	0.27300	0.093211345	0.21886	0.11312494	0.27300	-5.66	0.43335	T	.	.	0.223	0.45483	B	.	.	3.167548	0.42947	21.6	0.99807894123297425	0.89174	0.76642	0.37605	D	AEFBI	0.221904	0.34647	N	0.0532000653145887	0.44289	2.705728	-0.0315434559698925	0.38298	2.254394	3.01293924114846E-4	0.06454	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	2.23	0.27189	2.233000	0.42672	2.902000	0.35456	-0.273000	0.06669	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.3823:0.398:0.122:0.0978	2.713	0.04861	473	0.77910	Zinc finger, DPH-type|Zinc finger, DPH-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	73.14	72	chr11	31430384	.	C	T	73.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.951;DP=817;ExcessHet=0.2348;FS=248.454;InbreedingCoeff=-0.1107;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=2.32;SOR=9.541	GT:AD:DP:GQ:PL	0/0:73,18:91:53:0,53,1401	8	0	2	0
chr11	32602822	32602823	TG	-	exonic	CCDC73	.	frameshift deletion	CCDC73:NM_001008391:exon18:c.3228_3229del:p.N1076Kfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.784e-06	2.736e-06	4.151e-06	1.401e-06	0.0002	6.5e-07	4.4e-07	7.3e-07	2e-07	0	0	0	0	0	0.0002	2.731e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	273.39	28	chr11	32602821	.	CTG	C	273.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=188;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-1.605;SOR=1.356	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	9	0	1	0
chr11	32933425	32933425	G	A	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon4:c.G2167A:p.E723K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0102933122349	.	.	8.335e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs775321646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.573e-06	6.567e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.012	0.54683	D	0.884	0.03187	T	0.421	0.35387	B	0.118	0.32088	B	0.005160	0.33053	N	0.253174	0.989809	0.41026	D	2.075	0.57047	M	2.23	0.18083	T	-0.67	0.19297	N	0.218	0.24385	-1.0610	0.11508	T	0.084	0.32957	T	10	0.19439578	0.35249	T	0.010293	0.26654	T	0.106	0.30130	0.432	0.48171	0.110392049598	0.10638	0.23033583724708429	0.22948	0.222697933434	0.24806	0.388881891966	0.23513	T	0.004569	0.03978	T	-0.221804	0.17748	T	-0.374235	0.36395	T	0.683250069618225	0.39936	D	0.925008	0.72455	D	0.15620066	0.35262	0.13714938	0.32789	0.15620066	0.35261	0.13714938	0.32789	-3.988	0.23624	T	.	.	0.156	0.34558	B	.;.	.;.	3.435707	0.47770	22.5	0.99911743002081921	0.98095	0.91502	0.53665	D	AEFGBI	0.554460	0.56529	D	0.362545008952879	0.59407	4.119665	0.446562996022705	0.64496	4.706179	0.983559938970209	0.30578	0.706548	0.73137	0	0.615513	0.52658	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	6.921000	0.75625	11.902000	0.99384	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	18.665	0.91444	489	0.76795	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2461.43	192	chr11	32933425	.	G	A	2461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.19;DP=1025;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.995;SOR=0.784	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	9	0	1	0
chr11	32954076	32954076	T	C	exonic	QSER1	.	nonsynonymous SNV	QSER1:NM_001076786:exon5:c.T4397C:p.I1466T	.	423	1086	12	1	0	14	0.00640439	.	.	.	3308356	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.366	0.0379090316982	0.0014	0.000399361	0.0015	0.0008	0.0010	0	0	0.0017	0	0.0024	0.0015071	233	154602	rs201036288	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0028	0.0004	0.0011	0	2.519e-05	0.0001	0.0014	0.0029	0.0028	0.0024	0.0012	0.0012	0.0014	0.0010	0.0021	0.0011	0.0010	0.0018	0.0017	0.0006	0	0.0009	0.0003	0	0	0.0034	0.0021	0.0014	0.0010	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.946	0.68276	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.64	0.27822	T	-3.07	0.63207	D	0.759	0.75742	-0.2594	0.76104	T	0.405	0.75487	T	10	0.01822859	0.00395	T	0.037909	0.57903	D	0.366	0.68582	.	.	0.187035705434	0.18338	0.45836074342984634	0.45754	0.509821056662	0.49115	0.468420743942	0.34463	T	0.217508	0.57997	T	-0.0463307	0.45003	T	0.158567	0.80718	D	0.0213190037330168	0.00834	T	0.956004	0.83260	D	0.47408083	0.65540	0.49491948	0.70789	0.47408083	0.65541	0.49491948	0.70790	-3.436	0.15545	T	.	.	0.497	0.64426	A	.;.	.;.	4.407633	0.68162	25.2	0.99879176132692116	0.95572	0.98661	0.85270	D	AEFBI	0.888606	0.82190	D	0.531078852286149	0.68938	5.28653	0.598988692807381	0.74867	6.210746	0.999999980872158	0.74766	0.722319	0.85440	0	0.653731	0.59785	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.674000	0.83146	6.158000	0.54298	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.371	0.83195	369	0.84396	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	2306.43	40	chr11	32954076	.	T	C	2306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.434;DP=498;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=-1.265;SOR=0.712	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1262	9	0	1	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	92.09	70	chr11	33085948	.	G	A	92.09	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.007;DP=575;ExcessHet=0;FS=48.456;InbreedingCoeff=-0.0843;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=1.02;SOR=4.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:50:.:.:0,50,976:.	8	0	1	1
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	261.2	81	chr11	33085953	.	G	A	261.2	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.861;DP=523;ExcessHet=0.7463;FS=183.098;InbreedingCoeff=-0.4347;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.65;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:33,3:36:12:0|1:33085952_T_C:0,12,1043:33085952	1	0	3	6
chr11	33286959	33286959	A	G	exonic	HIPK3	.	nonsynonymous SNV	HIPK3:NM_001048200:exon2:c.A545G:p.Y182C,HIPK3:NM_001278162:exon2:c.A545G:p.Y182C,HIPK3:NM_001278163:exon2:c.A545G:p.Y182C,HIPK3:NM_005734:exon2:c.A545G:p.Y182C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.126702640046	.	.	2.472e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs752935813	3.42e-06	3.42e-06	2.723e-06	4.125e-06	2.519e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0	3.597e-06	0	0	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.98	0.85499	M	1.66	0.27486	T	-8.49	0.97281	D	0.971	0.98368	-0.7328	0.58822	T	0.197	0.55129	T	10	0.89059246	0.88399	D	0.126703	0.80840	D	0.658	0.87184	0.625	0.76028	0.7472889995	0.74501	0.7224977637905686	0.72193	0.816940707689	0.66982	0.837248325348	0.87673	D	0.300515	0.67300	T	0.241345	0.77789	D	0.172545	0.81559	D	0.996464848518372	0.89398	D	1.000	0.99817	D	0.84535694	0.86994	0.8403728	0.90863	0.84535694	0.86996	0.8403728	0.90863	-12.869	0.88816	D	.	.	0.977	0.90609	P	.;.;.;.	.;.;.;.	5.061859	0.84376	28.3	0.99791415193557076	0.87750	0.99600	0.97861	D	AEFDGBI	0.898195	0.84121	D	0.822999214786218	0.87522	9.247071	0.802877498482431	0.89994	10.20953	0.99999999994525	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	9.325000	0.96006	11.266000	0.91241	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	15.879	0.78971	380	0.83728	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2991.43	39	chr11	33286959	.	A	G	2991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.187;DP=591;ExcessHet=0;FS=6.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.14;SOR=0.875	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1481	9	0	1	0
chr11	34146171	34146171	-	A	exonic	NAT10	.	frameshift insertion	NAT10:NM_001144030:exon27:c.2842dupA:p.L949Tfs*16,NAT10:NM_024662:exon29:c.3058dupA:p.L1021Tfs*16	.	428	1084	10	0	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.000798722	0.0011	0	0.0014	0	0.0002	0.0015	0.0032	0.0014	0.0003458	9	26028	rs369711679	0.0006	0.0006	0.0006	0.0007	0.0247	0.0006	0.0006	0.0214	0.0201	0.0014	0.0011	0.0001	2.521e-05	0.0002	0.0247	0.0005	0.0012	0.0008	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0007	0.0005	0.0001	0	0.0010	0.0003	0	0	0.0340	0.0007	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015609	0.010101	0.009511	0.049708	0.050000	0.051724	0.000000	0.003788	0.05	595.39	33	chr11	34146171	.	G	GA	595.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.39;DP=360;ExcessHet=0;FS=5.479;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.948;SOR=0.747	GT:AD:DP:GQ:PL	0/1:32,23:55:99:607,0,937	9	0	1	0
chr11	34882782	34882782	C	T	exonic	APIP	.	nonsynonymous SNV	APIP:NM_015957:exon7:c.G664A:p.V222I	.	.	.	.	.	.	.	.	.	.	.	3463551	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0165648018443	7.7e-05	.	0.0001	0.0002	8.669e-05	0.0003	0	7.516e-05	0	0.0002	9.06e-05	14	154602	rs142291500	3.776e-05	4.036e-05	3.007e-05	4.554e-05	0.0002	2.971e-05	2.665e-05	8.234e-05	5.807e-05	0	4.509e-05	0	0.0002	0	0.0002	2.617e-05	8.309e-05	0.0001	5.26e-05	5.255e-05	5.141e-05	5.384e-05	0.0001	2.558e-05	1.831e-05	3.251e-05	1.916e-05	9.658e-05	0	0.0001	0	0	0	0	2.94e-05	0	0	0.405	0.10311	T	0.338	0.18125	T	0.582	0.38854	P	0.13	0.32896	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.065	0.27018	L	1.96	0.22270	T	-0.59	0.17624	N	0.097	0.07811	-1.1402	0.01350	T	0.039	0.16634	T	10	0.07320386	0.11029	T	0.016565	0.37889	T	0.128	0.35103	.	.	0.12205267543	0.11705	0.484224316049868	0.48342	0.272220388985	0.29735	0.30449539423	0.11074	T	0.015603	0.13056	T	-0.444884	0.01210	T	-0.544757	0.17831	T	0.0157879535108805	0.00368	T	0.768323	0.39714	T	0.12695049	0.29721	0.15072565	0.35536	0.12695049	0.29721	0.15072565	0.35535	-5.124	0.38159	T	.	.	0.108	0.20469	B	.	.	1.558299	0.19961	14.52	0.85209729036990889	0.15752	0.91873	0.54448	D	AEFBI	0.209519	0.33549	N	-0.581781245730189	0.19498	1.02095	-0.521286304526897	0.21575	1.167809	0.972214309710864	0.29352	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.36	4.45	0.53365	3.104000	0.49998	0.615000	0.20071	-0.172000	0.11096	0.991000	0.37257	0.093000	0.22564	0.093000	0.17941	0.0:0.9328:0.0:0.0672	17.180	0.86731	785	0.46916	Class II aldolase/adducin N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	321.43	35	chr11	34882782	.	C	T	321.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.18;DP=369;ExcessHet=0;FS=6.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-1.815;QD=6.7;ReadPosRankSum=0.096;SOR=0.188	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	9	0	1	0
chr11	34995020	34995020	A	G	exonic	PDHX	.	nonsynonymous SNV	PDHX:NM_001166158:exon6:c.A673G:p.T225A,PDHX:NM_001135024:exon11:c.A1309G:p.T437A,PDHX:NM_003477:exon11:c.A1354G:p.T452A	Lacticacidemia due to PDX1 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00542557553915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	1.361e-06	5.501e-06	8.964e-05	1e-06	7.3e-07	2.375e-05	1.258e-05	8.964e-05	0	0	0	0	0	8.994e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.03787	T	0.957	0.03039	T	0.0	0.02946	B	0.002	0.06944	B	0.759091	0.06529	N	1.097370	1	0.08975	N	-0.1	0.04694	N	1.0	0.41392	T	-0.41	0.14000	N	0.037	0.05670	-0.9869	0.33371	T	0.041	0.17530	T	10	0.025403231	0.00735	T	0.005426	0.13923	T	0.037	0.09474	0.401	0.43081	0.151104730317	0.14643	0.3027039040579741	0.30183	0.0422848965363	0.04555	0.273217439651	0.06565	T	0.197377	0.55404	T	-0.282314	0.10424	T	-0.643301	0.09430	T	0.0157330930233002	0.00364	T	0.481652	0.14579	T	0.04313195	0.06666	0.040521085	0.04399	0.04313195	0.06665	0.040521085	0.04399	-2.769	0.07901	T	0.10545918307054926	0.08363	0.069	0.04932	B	.;.;.	.;.;.	0.917089	0.12915	9.427	0.5534388936552217	0.05323	0.03929	0.09320	N	AEFDGBI	0.061649	0.11800	N	-1.2064844489601	0.04904	0.222356	-1.13960459518528	0.06956	0.3366227	0.988294172743724	0.31467	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	6.04	-3.15	0.04912	0.421000	0.20999	0.098000	0.14610	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.982000	0.59238	0.3988:0.0:0.485:0.1162	8.664	0.33272	732	0.54084	.;2-oxoacid dehydrogenase acyltransferase, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	874.43	33	chr11	34995020	.	A	G	874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.219;DP=424;ExcessHet=0;FS=2.57;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.331;SOR=0.713	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr11	35204536	35204536	C	T	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon9:c.C1049T:p.T350M,CD44:NM_000610:exon10:c.C1178T:p.T393M	.	422	1064	35	1	0	37	0.0170901	.	.	.	701741	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0072	0.00359425	0.0073	0.0013	0.0112	0	0.0083	0.0090	0.0132	0.0042	0.0075225	1163	154602	rs11607491	0.0080	0.0080	0.0081	0.0080	0.0106	0.0079	0.0078	0.0093	0.0090	0.0018	0.0101	0.0151	2.52e-05	0.0073	0.0106	0.0086	0.0080	0.0040	0.0067	0.0067	0.0067	0.0068	0.0106	0.0064	0.0063	0.0093	0.0088	0.0015	0.0143	0.0106	0.0121	0.0002	0.0060	0.0170	0.0094	0.0095	0.0035	0.142	0.31383	T	0.167	0.43913	T	0.003	0.23997	B	0.002	0.14300	B	0.989912	0.08037	N	0.994922	1	0.08975	N	1.04	0.26193	L	1.8	0.25344	T	-1.98	0.50666	N	0.093	0.07398	-0.9996	0.30030	T	0.021	0.08639	T	10	0.004863858	0.00104	T	.	.	.	0.062	0.17934	.	.	0.20549828249	0.20151	0.16050849875260592	0.15971	0.0537663119061	0.05938	0.231335908175	0.02068	T	0.293873	0.66656	T	-0.537071	0.00349	T	-0.534847	0.18805	T	0.00397361201338003	0.00042	T	0.70043	0.31009	T	0.013736582	0.00068	0.035582725	0.02838	0.013736582	0.00068	0.035582725	0.02838	-5.967	0.49369	T	.	.	0.090	0.15788	B	.;.;.;.	.;.;.;.	0.547991	0.09168	5.949	0.85254983741076129	0.15779	0.05659	0.11573	N	AEFGBCI	0.107172	0.21361	N	-1.29313677901067	0.03757	0.1684061	-1.2975289000714	0.04465	0.2106341	0.997660974927555	0.35879	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.05	-0.388	0.11838	0.122000	0.15515	-1.466000	0.05376	-1.681000	0.00785	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1598:0.4188:0.1554:0.266	1.034	0.01449	882	0.29131	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007553	0.000000	0.012228	0.000000	0.000000	0.008621	0.021341	0.003788	0.05	2086.43	33	chr11	35204536	.	C	T	2086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.808;DP=475;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=-0.315;SOR=0.771	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	9	0	1	0
chr11	35206198	35206198	A	G	exonic	CD44	.	nonsynonymous SNV	CD44:NM_001001389:exon10:c.A1240G:p.I414V,CD44:NM_000610:exon11:c.A1369G:p.I457V	.	428	1048	42	4	0	50	0.0232992	.	.	.	724415	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0012	0.00419329	0.0051	9.612e-05	0.0025	0	0	0.0019	0.0132	0.0271	0.0043984	680	154602	rs140510483	0.0027	0.0027	0.0018	0.0035	0.0261	0.0026	0.0026	0.0252	0.0248	0.0003	0.0015	0.0031	5.056e-05	3.745e-05	0.0172	0.0011	0.0036	0.0261	0.0018	0.0018	0.0013	0.0023	0.0207	0.0016	0.0015	0.0175	0.0162	0.0002	0	0.0014	0.0040	0	0	0.0306	0.0017	0.0014	0.0207	0.212	0.19854	T	1.0	0.12211	T	0.0	0.02946	B	0.001	0.06944	B	0.086558	0.20581	N	0.455727	0.950778	0.37710	D	0.255	0.09829	N	2.84	0.20387	T	-0.42	0.14193	N	0.113	0.10769	-1.0358	0.18606	T	0.094	0.35604	T	10	0.0032230914	0.00055	T	.	.	.	0.028	0.06331	.	.	0.146414634003	0.14194	0.10272548602318497	0.10202	0.0387608282298	0.04121	0.248365327716	0.03598	T	0.24548	0.61479	T	-0.628595	0.00098	T	-0.656113	0.08531	T	0.00108250113076798	0.00010	T	0.714029	0.32905	T	0.032998156	0.03432	0.046259083	0.06409	0.032998156	0.03432	0.046259083	0.06409	-3.36	0.14523	T	.	.	0.073	0.06433	B	.;.;.;.	.;.;.;.	-0.171630	0.03238	0.545	0.5231850831793089	0.04725	0.06643	0.12660	N	AEFGBHCI	0.089151	0.18071	N	-1.09676346202009	0.06702	0.3092912	-1.20747916356194	0.05789	0.2768153	0.999463579887593	0.39843	0.614807	0.35715	0	0.577304	0.33150	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	4.76	-3.36	0.04606	-0.931000	0.04076	0.078000	0.14353	-0.635000	0.04468	0.175000	0.24000	0.001000	0.17328	0.002000	0.04165	0.445:0.0:0.555:0.0	10.890	0.46198	883	0.28872	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.021652	0.020202	0.010870	0.020468	0.000000	0.017241	0.024390	0.053030	0.05	1128.43	35	chr11	35206198	.	A	G	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.376;SOR=0.675	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1083	9	0	1	0
chr11	36278529	36278529	T	C	exonic	COMMD9	.	nonsynonymous SNV	COMMD9:NM_001101653:exon2:c.A139G:p.N47D,COMMD9:NM_001307932:exon3:c.A265G:p.N89D,COMMD9:NM_014186:exon3:c.A265G:p.N89D,COMMD9:NM_001307937:exon4:c.A238G:p.N80D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00528987571877	.	.	8.237e-06	0	8.637e-05	0	0	0	0	0	6.5e-06	1	154602	rs746080058	3.421e-06	3.42e-06	2.723e-06	4.126e-06	8.961e-05	1e-06	7.3e-07	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.21304	T	0.597	0.17531	T	0.971	0.57185	D	0.652	0.52532	P	0.000004	0.62929	D	0.139496	0.915558	0.36529	D	1.895	0.50365	L	2.95	0.09635	T	-0.32	0.21860	N	0.182	0.30004	-1.0424	0.16592	T	0.036	0.15422	T	10	0.11282483	0.21175	T	0.00529	0.13525	T	0.125	0.34456	0.51	0.60693	0.176862962021	0.17281	0.13791543664934428	0.13715	0.328683231813	0.34977	0.589648008347	0.51445	T	0.003375	0.14442	T	-0.297573	0.08891	T	-0.568366	0.15599	T	0.347310073228393	0.26913	T	0.829317	0.50788	T	0.35619703	0.57546	0.274679	0.53398	0.35619703	0.57546	0.274679	0.53397	-5.006	0.36905	T	.	.	0.085	0.34183	B	.;.;.	.;.;.	3.080831	0.41449	21.4	0.99453265277523561	0.65376	0.73021	0.35725	D	AEDGBHCI	0.170877	0.29781	N	0.129932119125443	0.47862	3.006159	0.249084891685323	0.52597	3.433562	0.999962981509787	0.48965	0.712529	0.81865	0	0.724815	0.89359	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	1.302000	0.33063	5.040000	0.46903	0.665000	0.62972	0.993000	0.37899	1.000000	0.68203	0.982000	0.59238	0.0:0.0765:0.0:0.9235	10.275	0.42681	902	0.24074	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1252.43	35	chr11	36278529	.	T	C	1252.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.063;DP=408;ExcessHet=0;FS=0.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.482;SOR=0.722	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1036	9	0	1	0
chr11	36574312	36574312	C	G	exonic	RAG1	.	nonsynonymous SNV	RAG1:NM_000448:exon2:c.C1008G:p.F336L,RAG1:NM_001377280:exon2:c.C1008G:p.F336L,RAG1:NM_001377279:exon3:c.C1008G:p.F336L,RAG1:NM_001377278:exon4:c.C1008G:p.F336L,RAG1:NM_001377277:exon5:c.C1008G:p.F336L	Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity;Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.543	0.0476137490386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.933	0.52105	P	0.791	0.57754	P	0.016302	0.28011	N	0.397494	0.68205	0.33243	D	1.385	0.34509	L	-0.97	0.75670	T	-2.6	0.55983	D	0.417	0.45709	0.104	0.84246	D	0.459	0.78975	T	10	0.7527144	0.75755	D	0.047614	0.63002	D	0.543	0.80960	0.753	0.88319	0.926634430986	0.92589	0.44230512189114424	0.44147	0.556447059233	0.52301	0.566733241081	0.48216	T	0.772522	0.93923	D	0.107144	0.65055	D	-0.0838712	0.64619	T	0.956970572471619	0.64892	D	0.904909	0.66542	D	0.4130946	0.61629	0.42329732	0.66204	0.4130946	0.61630	0.42329732	0.66204	-9.817	0.72809	D	0.23360561247079525	0.31623	0.925	0.84574	P	.	.	3.219439	0.43859	21.8	0.99418598136518099	0.63645	0.89534	0.50060	D	AEFGBI	0.388905	0.46833	N	0.336882955936457	0.58051	3.97521	0.269605330664357	0.53771	3.544623	0.999923042337325	0.46280	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.39	1.42	0.21524	0.619000	0.24083	1.786000	0.28758	0.599000	0.40250	0.996000	0.39380	0.994000	0.32194	0.994000	0.71098	0.0:0.6218:0.0:0.3782	10.268	0.42648	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4738.12	33	chr11	36574312	.	C	G	4738.12	.	AC=2;AF=0.1;AN=20;DP=595;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.97;SOR=1.036	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	1	0	0
chr11	44073460	44073460	A	T	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon4:c.A362T:p.D121V,ACCS:NM_032592:exon4:c.A362T:p.D121V	.	413	1105	4	0	0	4	0.00180668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.685	0.071617655569	.	0.000399361	0.0004	0	0.0001	0.0002	0	0	0	0.0028	0.0002458	38	154602	rs572810826	0.0001	0.0001	6.144e-05	0.0002	0.0020	0.0001	0.0001	0.0018	0.0017	2.997e-05	0	0	0	0	0.0002	8.11e-06	0.0002	0.0020	7.221e-05	7.217e-05	6.423e-05	8.055e-05	0.0017	3.967e-05	3.124e-05	0.0008	0.0006	0	0	0	0	0	0	0	4.409e-05	0	0.0017	0.0	0.91255	D	0.078	0.45110	T	0.991	0.64070	D	0.955	0.69585	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	0.76	0.91533	T	-8.67	0.97580	D	0.821	0.81658	0.944	0.96309	D	0.882	0.96085	D	10	0.19298527	0.35049	T	0.071618	0.71318	D	0.685	0.88490	.	.	0.911976214087	0.91109	0.7333872230634642	0.73283	0.56141633147	0.52646	0.473071753979	0.35102	T	0.139755	0.76374	T	0.138606	0.68192	D	0.421395	0.92787	D	0.502840459346771	0.32733	D	0.867113	0.58193	D	0.5774353	0.71468	0.39952594	0.64513	0.5774353	0.71469	0.39952594	0.64513	-13.122	0.89858	D	.	.	0.742	0.74697	P	.;.	.;.	4.041250	0.59833	24.1	0.99295389710550586	0.58433	0.99112	0.91402	D	AEFDBHI	0.674866	0.64044	D	0.657333129922732	0.76844	6.562012	0.560812187560826	0.72152	5.765105	0.99998660801123	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.616094	0.41390	0	0.491896	0.07777	0	.	.	5.51	5.51	0.81769	5.377000	0.65937	7.797000	0.69042	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.123000	0.19290	1.0:0.0:0.0:0.0	13.857	0.63029	872	0.31118	.;Aminotransferase, class I/classII	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1546.43	33	chr11	44073460	.	A	T	1546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.796;DP=450;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.781;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1344	9	0	1	0
chr11	44077852	44077852	G	A	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon8:c.G662A:p.G221E,ACCS:NM_032592:exon8:c.G662A:p.G221E	.	413	1108	1	0	0	1	0.00045106	.	.	.	724431	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.065	.	0.0065	0.014377	0.0040	0.0211	0.0006	0.0060	0	0.0001	0.0124	0.0118	0.003758	581	154602	rs35514614	0.0016	0.0016	0.0013	0.0018	0.0206	0.0015	0.0015	0.0193	0.0188	0.0206	0.0009	0	0.0086	5.618e-05	0.0031	0.0001	0.0030	0.0108	0.0064	0.0064	0.0061	0.0067	0.0200	0.0061	0.0059	0.0189	0.0184	0.0200	0	0.0015	0	0.0079	0	0.0102	0.0001	0.0066	0.0106	0.922	0.02298	T	0.591	0.08189	T	0.005	0.12996	B	0.029	0.21540	B	0.000003	0.62929	D	0.104529	0.999998	0.58761	D	0.83	0.20963	L	-0.08	0.63911	T	-1.21	0.30762	N	0.278	0.31478	-1.0754	0.08266	T	0.032	0.13811	T	10	0.0034445226	0.00061	T	.	.	.	0.065	0.18881	.	.	0.754912982869	0.75269	0.3486820279985512	0.34782	0.145023439158	0.16386	0.404011964798	0.25627	T	0.177007	0.52715	T	-0.485133	0.00691	T	-0.452717	0.27396	T	0.0129094553236581	0.00222	T	0.369363	0.08678	T	0.11159454	0.26371	0.1511187	0.35610	0.11159454	0.26371	0.1511187	0.35609	-7.558	0.58017	D	.	.	0.116	0.23290	B	.	.	2.871493	0.37970	20.6	0.58776055068065769	0.06070	0.95275	0.64091	D	AEFBI	0.433619	0.49500	N	-0.375719025399819	0.26338	1.436605	-0.164753344807732	0.32843	1.872686	0.652726880811412	0.22182	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.59522	0.37078	0	.	.	5.23	4.32	0.50899	4.739000	0.61776	3.703000	0.39532	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0821:0.0:0.9179:0.0	11.872	0.51803	848	0.35897	Aminotransferase, class I/classII	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006546	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.011364	0.05	768.43	33	chr11	44077852	.	G	A	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.807;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.283;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1073	9	0	1	0
chr11	44938231	44938231	G	A	exonic	TP53I11	.	nonsynonymous SNV	TP53I11:NM_001318388:exon2:c.C5T:p.T2M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.000199681	0.0005	0	0	0.0039	0	9.912e-05	0	0.0012	0.0003816	59	154602	rs564424905	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0025	0.0024	5.979e-05	2.241e-05	0	0.0030	0	0.0005	5.397e-05	0.0002	0.0011	0.0002	0.0002	8.998e-05	0.0002	0.0029	0.0001	9.239e-05	0.0018	0.0015	0	0	0	0	0.0029	0	0	1.471e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1342.43	34	chr11	44938231	.	G	A	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.154;DP=413;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.054;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	9	0	1	0
chr11	45904486	45904486	G	T	exonic	MAPK8IP1	.	nonsynonymous SNV	MAPK8IP1:NM_005456:exon8:c.G1698T:p.Q566H	.	397	1122	3	0	0	3	0.00133511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0105769364546	.	.	8.265e-06	0	0	0	0	1.502e-05	0	0	3.84e-05	1	26028	rs777996728	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.65419	D	0.031	0.53788	D	0.835	0.46254	P	0.497	0.47562	P	0.000273	0.46590	D	0.191316	0.999981	0.54805	D	1.7	0.43825	L	2.56	0.13673	T	-1.73	0.41046	N	0.454	0.49146	-1.1607	0.00740	T	0.035	0.15291	T	10	0.31837767	0.49236	T	0.010577	0.27281	T	0.070	0.20419	0.431	0.48007	0.404519682234	0.40067	0.43859502618328094	0.43776	0.779000434201	0.65178	0.440195262432	0.30603	T	0.447502	0.78974	T	-0.100366	0.36364	T	-0.381945	0.35495	T	0.43737697980294	0.30332	T	0.872513	0.57956	D	0.1161094	0.27390	0.12844318	0.30901	0.1161094	0.27389	0.12844318	0.30900	-5.186	0.38799	T	.	.	0.165	0.36455	B	.;.	.;.	4.178535	0.62890	24.5	0.99745166800417462	0.83778	0.88057	0.47821	D	AEFDBCI	0.447129	0.50290	N	0.355130345676219	0.59010	4.077175	0.462325817201332	0.65513	4.833189	0.999996726976344	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.664235	0.64389	0	.	.	5.97	5.97	0.96935	1.872000	0.39185	6.611000	0.56088	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0694:0.0:0.9306:0.0	14.569	0.67792	460	0.78750	PTB/PI domain|PTB/PI domain;PTB/PI domain|PTB/PI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1573.43	38	chr11	45904486	.	G	T	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.521;DP=475;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=1.22;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	9	0	1	0
chr11	46386131	46386131	G	A	exonic	CHRM4	.	nonsynonymous SNV	CHRM4:NM_000741:exon2:c.C427T:p.R143W,CHRM4:NM_001366692:exon2:c.C427T:p.R143W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	0.0624349659305	.	.	8.538e-06	0	8.919e-05	0	0	0	0	0	1.29e-05	2	154602	rs200330011	2.396e-05	2.395e-05	2.179e-05	2.615e-05	8.12e-05	1.74e-05	1.54e-05	3.767e-05	2.663e-05	2.987e-05	2.241e-05	0	5.041e-05	0	0	1.979e-05	3.315e-05	8.12e-05	2.662e-05	2.64e-05	3.901e-05	1.364e-05	5.926e-05	8.22e-06	5.19e-06	1.983e-05	1.132e-05	0	0	0	0	0	0	0	5.926e-05	0	0	0.0	0.91255	D	0.079	0.42086	T	0.981	0.59675	D	0.531	0.48577	P	.	.	.	.	0.99961	0.47849	D	2.145	0.60081	M	-0.74	0.73205	T	-5.43	0.85323	D	0.83	0.82559	-0.4017	0.71973	T	0.312	0.68192	T	9	0.80858344	0.80168	D	0.062435	0.68651	D	0.531	0.80247	.	.	0.899079146089	0.89807	0.9527898917742664	0.95262	1.35464816004	0.84160	0.839369058609	0.87998	D	0.628821	0.88469	D	0.0997099	0.64261	D	0.00607993	0.70729	D	0.70458310842514	0.40938	D	0.949705	0.80662	D	0.3885258	0.59927	0.5615102	0.74628	0.3885258	0.59927	0.5615102	0.74628	-11.986	0.84783	D	.	.	0.383	0.58611	A	.	.	5.379523	0.90159	31	0.99894242585840731	0.96742	0.51497	0.28909	D	AEFGBI	0.704908	0.66047	D	0.212766632611332	0.51818	3.360139	0.213375098691071	0.50589	3.249347	0.999963164243992	0.48965	0.516011	0.20929	0	0.59043	0.45803	0	0.576033	0.28219	0	0.586402	0.36253	0	.	.	4.82	4.82	0.61641	0.518000	0.22554	5.869000	0.50514	0.662000	0.56354	0.667000	0.28322	1.000000	0.68203	0.745000	0.35611	0.0:0.0:0.6815:0.3185	11.044	0.47063	31	0.98186	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	7033.12	36	chr11	46386131	.	G	A	7033.12	.	AC=2;AF=0.1;AN=20;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.06;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,941	9	1	0	0
chr11	46435032	46435032	C	T	exonic	AMBRA1	.	nonsynonymous SNV	AMBRA1:NM_001300731:exon12:c.G2458A:p.V820M,AMBRA1:NM_001367469:exon12:c.G2101A:p.V701M,AMBRA1:NM_001267783:exon13:c.G2281A:p.V761M,AMBRA1:NM_001367468:exon13:c.G2638A:p.V880M,AMBRA1:NM_001367470:exon14:c.G1831A:p.V611M,AMBRA1:NM_001367471:exon14:c.G2368A:p.V790M,AMBRA1:NM_017749:exon14:c.G2368A:p.V790M,AMBRA1:NM_001267782:exon15:c.G2647A:p.V883M	.	.	.	.	.	.	.	.	.	.	.	2680672	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.046640939027	7.7e-05	.	7.519e-05	0	0.0004	0	0	7.809e-05	0	0	5.17e-05	8	154602	rs377069728	2.41e-05	2.463e-05	2.463e-05	2.356e-05	0.0002	1.75e-05	1.549e-05	7.528e-05	5.318e-05	0	0.0002	0	7.594e-05	0	0.0002	2.077e-05	0	1.179e-05	2.631e-05	2.628e-05	1.285e-05	4.04e-05	0.0002	8.15e-06	5.14e-06	.	.	2.416e-05	0	0	0	0.0002	9.439e-05	0	1.471e-05	0	0	0.011	0.57480	D	0.021	0.64786	D	0.392	0.34646	B	0.07	0.27859	B	0.000000	0.84330	D	0.000000	0.994933	0.42476	D	1.39	0.34934	L	-0.49	0.71662	T	-0.86	0.27052	N	0.309	0.34981	-0.8235	0.53714	T	0.178	0.52427	T	10	0.11616063	0.21905	T	0.046641	0.62555	D	0.070	0.20419	.	.	0.298199939746	0.29431	0.562858974719493	0.56212	1.19436433479	0.80347	0.754379749298	0.75093	T	0.026641	0.55616	T	-0.254526	0.13548	T	-0.313242	0.43309	T	0.130296129827606	0.15409	T	0.892211	0.69822	D	0.12275195	0.28838	0.14058124	0.33506	0.12275195	0.28838	0.14058124	0.33505	-11.522	0.82445	D	.	.	0.193	0.52736	B	.;.;.;.;.	.;.;.;.;.	4.108171	0.61310	24.3	0.99854189304134866	0.93279	0.93958	0.59687	D	AEFBI	0.194654	0.32173	N	-0.255073161527022	0.30902	1.727476	-0.0856737335707558	0.35981	2.088286	0.995429575743126	0.34119	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	4.1	0.47196	2.681000	0.46592	1.446000	0.26567	-0.193000	0.09282	0.986000	0.36153	0.815000	0.27074	0.996000	0.76049	0.0:0.7991:0.0:0.2009	10.311	0.42891	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	387.43	27	chr11	46435032	.	C	T	387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=289;ExcessHet=0;FS=3.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-2.25;SOR=0.214	GT:AD:DP:GQ:PL	0/0:25,0:25:60:0,60,900	9	0	1	0
chr11	46704760	46704760	C	T	exonic	ZNF408	.	nonsynonymous SNV	ZNF408:NM_001184751:exon5:c.C1036T:p.R346W,ZNF408:NM_024741:exon5:c.C1060T:p.R354W	Retinitis pigmentosa 72, Autosomal recessive	421	1100	1	0	0	1	0.000454339	.	.	.	1406746	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00952035016425	.	.	4.346e-05	0	0	0	0	3.105e-05	0	0.0002	3.23e-05	5	154602	rs749384154	2.153e-05	2.189e-05	2.482e-05	1.818e-05	0.0002	1.543e-05	1.344e-05	0.0001	0.0001	3.062e-05	4.831e-05	0	0	1.92e-05	0	4.539e-06	8.422e-05	0.0002	6.569e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.003	0.76473	D	0.997	0.70673	D	0.543	0.48966	P	0.198024	0.16673	N	0.443113	0.901264	0.27696	N	2.3	0.65703	M	1.58	0.29085	T	-3.23	0.65056	D	0.445	0.48319	-1.0741	0.08535	T	0.060	0.25018	T	10	0.21853623	0.38498	T	0.00952	0.24924	T	0.081	0.23632	0.373	0.38503	0.305410167561	0.30157	0.4868001191910575	0.48600	0.500536896077	0.48472	0.414473474026	0.27075	T	0.217426	0.57987	T	-0.313463	0.07446	T	-0.397901	0.33628	T	0.331259526049005	0.26275	T	0.338066	0.07246	T	0.20981498	0.43260	0.17487398	0.39914	0.20981498	0.43259	0.17487398	0.39913	-9.378	0.70097	D	.	.	0.210	0.43775	B	.	.	2.999716	0.40076	21.1	0.99901505994682571	0.97350	0.36839	0.25625	N	AEFBCI	0.419534	0.48672	N	-0.117301088964598	0.36639	2.120563	-0.133682887606351	0.34043	1.953834	0.864298692545189	0.25287	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.85	2.86	0.32427	0.060000	0.14220	0.540000	0.19325	0.549000	0.26987	0.004000	0.16614	0.037000	0.21475	0.982000	0.59238	0.3658:0.5653:0.0:0.069	9.169	0.36229	26	0.98304	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	2471.12	36	chr11	46704760	.	C	T	2471.12	.	AC=2;AF=0.1;AN=20;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.09;SOR=1.223	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1289	9	1	0	0
chr11	46770928	46770928	G	A	exonic	CKAP5	.	nonsynonymous SNV	CKAP5:NM_001008938:exon25:c.C3046T:p.L1016F,CKAP5:NM_014756:exon25:c.C3046T:p.L1016F	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	.	7.7e-05	0.00199681	0.0020	9.61e-05	0.0004	0	0	0	0	0.0141	0.0016365	253	154602	rs367607182	0.0008	0.0008	0.0004	0.0012	0.0130	0.0008	0.0008	0.0124	0.0122	2.987e-05	0	0	2.519e-05	0	0.0007	1.799e-06	0.0009	0.0130	0.0004	0.0004	0.0003	0.0005	0.0122	0.0003	0.0003	0.0097	0.0088	2.407e-05	0	0	0	0	0	0	0	0.0005	0.0122	0.015	0.53900	D	0.016	0.60972	D	0.999	0.77913	D	0.985	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.8	0.81625	M	-0.5	0.70480	T	-2.31	0.56630	N	0.699	0.74189	-0.1760	0.78281	T	0.473	0.79774	T	10	0.009250015	0.00209	T	.	.	.	0.442	0.74518	.	.	0.744910397829	0.74261	0.5246507163017348	0.52389	0.898816939212	0.70572	0.583297491074	0.50550	T	0.370974	0.73542	T	-0.106081	0.35417	T	0.0865219	0.76013	D	0.183004478428276	0.19423	T	0.906409	0.67274	D	0.46610928	0.65051	0.30747935	0.56769	0.46610928	0.65052	0.30747935	0.56768	-11.489	0.82272	D	.	.	0.308	0.53641	B	.;.;.	.;.;.	4.296548	0.65572	24.8	0.9990238775939142	0.97426	0.96108	0.67569	D	AEFBI	0.364864	0.45325	N	0.681318897279618	0.78408	6.865687	0.679347164839261	0.80814	7.383175	0.171206842059076	0.17738	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	4.218000	0.58351	5.831000	0.50164	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1474:0.0:0.8526:0.0	10.281	0.42721	13	0.98894	CLASP N-terminal domain|TOG domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002018	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1088.43	35	chr11	46770928	.	G	A	1088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.42;DP=401;ExcessHet=0;FS=5.624;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-1.958;SOR=1.306	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1114	9	0	1	0
chr11	46871604	46871604	C	T	exonic	LRP4	.	nonsynonymous SNV	LRP4:NM_002334:exon31:c.G4613A:p.R1538Q	Cenani-Lenz syndactyly syndrome, Autosomal recessive;Sclerosteosis 2, Autosomal recessive, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	314218	not_provided|Cenani-Lenz_syndactyly_syndrome|Sclerosteosis_2|Congenital_myasthenic_syndrome_17|Bone_Mineral_Density_Variation|LRP4-related_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0008931,MedGen:C1859309,OMIM:212780,Orphanet:3258|MONDO:MONDO:0013679,MedGen:C3280402,OMIM:614305,Orphanet:3152|MONDO:MONDO:0014578,MedGen:C4225377,OMIM:616304,Orphanet:590|MedGen:CN239274|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.797	.	0.0002	0.00219649	0.0023	0.0003	0.0004	0	0.0006	0.0002	0	0.0156	0.0017011	263	154602	rs140495790	0.0009	0.0009	0.0005	0.0012	0.0128	0.0008	0.0008	0.0122	0.0120	8.966e-05	0	0	2.522e-05	0.0006	0.0009	3.149e-05	0.0011	0.0128	0.0005	0.0005	0.0003	0.0007	0.0125	0.0004	0.0004	0.0099	0.0090	7.222e-05	0	6.539e-05	0	0	0.0006	0	8.819e-05	0.0005	0.0125	0.007	0.59928	D	0.02	0.58613	D	1.0	0.90584	D	0.992	0.80445	D	0.000006	0.62929	D	0.061561	1	0.81001	D	1.93	0.51437	L	-3.9	0.96015	D	-2.22	0.49846	N	0.727	0.72835	0.990	0.97019	D	0.916	0.97223	D	10	0.019691497	0.00443	T	.	.	.	0.797	0.93346	.	.	0.886708237902	0.88559	0.7586441953864115	0.75812	1.4798634796	0.86686	0.682887196541	0.64684	T	0.665081	0.89995	D	0.14101	0.68421	D	0.441451	0.93360	D	0.129605070929529	0.15345	T	0.984502	0.94671	D	0.40229258	0.60891	0.32973856	0.58850	0.40229258	0.60891	0.32973856	0.58849	-7.871	0.60187	D	.	.	0.448	0.62102	A	.	.	5.473290	0.91297	32	0.99951937154161119	0.99951	0.97788	0.77138	D	AEFBI	0.757551	0.69647	D	0.804207853945373	0.86369	8.863184	0.799868204473316	0.89783	10.11992	0.99999994946712	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.81	5.81	0.92413	5.931000	0.69831	7.608000	0.61804	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.078	0.97757	12	0.98946	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	758.43	35	chr11	46871604	.	C	T	758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.153;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.83;ReadPosRankSum=-0.082;SOR=0.593	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	9	0	1	0
chr11	47171799	47171799	A	G	exonic	ARFGAP2	.	nonsynonymous SNV	ARFGAP2:NM_001242832:exon8:c.T590C:p.L197P,ARFGAP2:NM_032389:exon9:c.T674C:p.L225P	.	418	1100	4	0	0	4	0.00181488	0.7976	0.468	.	3210663	ARFGAP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.456	.	.	0.00339457	0.0024	9.638e-05	0.0003	0	0	0	0	0.0171	0.0020246	313	154602	rs575856978	0.0010	0.0010	0.0005	0.0015	0.0161	0.0010	0.0009	0.0154	0.0151	2.987e-05	2.236e-05	0	2.519e-05	0	0.0007	3.597e-06	0.0011	0.0161	0.0006	0.0006	0.0003	0.0008	0.0168	0.0005	0.0004	0.0138	0.0127	2.405e-05	0	0	0	0	0	0	0	0.0009	0.0168	0.008	0.78490	D	0.032	0.79402	D	0.999	0.77913	D	0.953	0.69275	D	0.000747	0.42006	D	0.206931	1	0.81001	D	3.3	0.90472	M	0.64	0.52867	T	-5.38	0.88963	D	0.847	0.84298	-0.4176	0.71469	T	0.345	0.70996	T	10	0.008942157	0.00222	T	.	.	.	0.456	0.75483	0.219	0.14078	0.765807116871	0.76367	0.6872399632776086	0.68663	1.0665472346	0.76640	0.77514231205	0.78196	T	0.122899	0.48202	T	-6.63377e-05	0.51644	T	0.240754	0.85181	D	0.200435189453936	0.20440	T	0.889211	0.76057	D	0.725593	0.79474	0.8107354	0.88947	0.725593	0.79476	0.8107354	0.88947	-14.381	0.94229	D	.	.	0.416	0.72983	A	.;.;.;.;.;.	.;.;.;.;.;.	4.794111	0.77832	26.8	0.99599145725654026	0.74101	0.98642	0.85044	D	AEFDGBCI	0.964269	0.98636	D	0.875153070065866	0.90490	10.42777	0.852044394038771	0.93133	11.84639	0.999999999999789	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	8.947000	0.92735	9.380000	0.80508	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	16.424	0.83629	25	0.98345	.;Arf GTPase activating protein|Arf GTPase activating protein;.;Arf GTPase activating protein|Arf GTPase activating protein;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	259.44	31	chr11	47171799	.	A	G	259.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.661;DP=243;ExcessHet=0;FS=3.245;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.94;SOR=0.155	GT:AD:DP:GQ:PL	0/0:7,0:7:18:0,18,270	9	0	1	0
chr11	47332855	47332855	C	G	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon30:c.G3449C:p.R1150T	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1009714	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0870273947967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746613719	1.374e-06	1.368e-06	0	2.766e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.09629	T	0.744	0.05072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.3	0.00097	N	-2.07	0.85943	D	0.61	0.02480	N	0.13	0.13341	-0.8430	0.52446	T	0.126	0.43091	T	9	0.022209078	0.00549	T	0.087027	0.74855	D	0.188	0.46444	.	.	0.584054198399	0.58079	0.302320559771619	0.30145	0.32203709392	0.34400	0.229677855968	0.01944	T	0.10971	0.42382	T	-0.154228	0.27653	T	-0.459315	0.26674	T	0.322673857212067	0.25930	T	0.393561	0.09813	T	0.077448465	0.17579	0.07441083	0.16275	0.077448465	0.17578	0.07441083	0.16275	-3.973	0.23398	T	0.043743702771499186	0.00500	0.363	0.57424	A	.;.;.	.;.;.	-0.696154	0.01330	0.073	0.65839798686175	0.07887	0.02103	0.06232	N	AEFGBI	0.512505	0.54069	D	-2.10647995678706	0.00124	0.00530402	-2.10700138178717	0.00180	0.007923808	0.999655513863386	0.41424	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.17	-10.3	0.00281	-1.290000	0.02886	-3.793000	0.02533	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.836000	0.39433	0.0734:0.1896:0.4786:0.2583	5.986	0.18662	17	0.98681	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2086.43	40	chr11	47332855	.	C	G	2086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=507;ExcessHet=0;FS=6.442;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.039;SOR=0.554	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	9	0	1	0
chr11	47571617	47571617	T	G	exonic	PTPMT1	.	nonsynonymous SNV	PTPMT1:NM_175732:exon4:c.T594G:p.I198M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00396339789463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.33418	T	0.298	0.48336	T	0.09	0.25173	B	0.052	0.25551	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.76	0.25996	T	1.04	0.05604	N	0.15	0.15328	-0.9972	0.30701	T	0.023	0.09832	T	9	0.052417547	0.05273	T	0.003963	0.09368	T	0.021	0.04004	0.275	0.22687	0.16115917748	0.15686	0.1094848881212241	0.10877	0.50408299228	0.48702	0.263093531132	0.05264	T	0.07042	0.33956	T	-0.360021	0.04129	T	-0.754922	0.03297	T	0.0510310969506103	0.05680	T	.	.	.	0.03151714	0.03006	0.04854679	0.07233	0.03151714	0.03006	0.04854679	0.07232	-4.463	0.30401	T	.	.	0.088	0.11749	B	.;.	.;.	-0.689015	0.01346	0.075	0.43363845373337367	0.03260	0.01825	0.05669	N	AEFDBI	0.074064	0.14834	N	-1.59378949138686	0.01296	0.05642188	-1.64993457112733	0.01376	0.0621655	0.999999704946591	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.5	-6.44	0.01749	-1.307000	0.02841	-1.872000	0.04576	-0.787000	0.03278	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2858:0.1188:0.3478:0.2475	1.435	0.02200	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	708.43	33	chr11	47571617	.	T	G	708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.444;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.689;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	9	0	1	0
chr11	47578042	47578042	C	A	exonic	KBTBD4	.	nonsynonymous SNV	KBTBD4:NM_001318717:exon2:c.G75T:p.W25C,KBTBD4:NM_001318718:exon2:c.G33T:p.W11C,KBTBD4:NM_001318719:exon2:c.G33T:p.W11C	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	7.7e-05	0.00399361	0.0032	0.0001	0.0002	0	0	0	0.0012	0.0219	0.0023868	369	154602	rs368090346	0.0012	0.0012	0.0007	0.0017	0.0186	0.0011	0.0011	0.0179	0.0176	5.975e-05	0	0	2.519e-05	0	0.0017	6.296e-06	0.0014	0.0186	0.0006	0.0006	0.0004	0.0008	0.0193	0.0005	0.0005	0.0161	0.0149	4.812e-05	0	0	0	0	0	0	0	0.0005	0.0193	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.868331	0.35515	D	.	.	.	-0.74	0.77719	T	0.21	0.08033	N	0.302	0.34120	-0.9330	0.43695	T	0.216	0.57771	T	8	0.00425905	0.00085	T	.	.	.	0.202	0.48754	0.611	0.74418	0.618772897693	0.61568	0.2415374170160906	0.24067	.	.	.	.	.	0.010238	0.09261	T	-0.324153	0.06564	T	-0.222804	0.52465	T	0.0157068891105027	0.00362	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.50708	B	.;.	.;.	0.710300	0.10793	7.476	0.92944511064892832	0.22515	0.09998	0.15623	N	AEFDGBCIJ	0.117605	0.23031	N	-0.79906468382304	0.13334	0.6561559	-0.872669311401357	0.12743	0.657297	0.999995142062741	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.694767	0.63188	0	0.627883	0.49187	0	.	.	4.7	-2.72	0.05616	0.353000	0.19868	-0.192000	0.11028	0.524000	0.24156	0.037000	0.20830	0.002000	0.18203	0.988000	0.63387	0.119:0.301:0.3505:0.2295	2.271	0.03841	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	531.43	39	chr11	47578042	.	C	A	531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.628;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=1.78;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1228	9	0	1	0
chr11	47590168	47590168	C	T	exonic	C1QTNF4	.	nonsynonymous SNV	C1QTNF4:NM_031909:exon2:c.G643A:p.D215N	.	.	.	.	.	.	.	.	.	.	.	2398513	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.265	0.71343761658	0.0002	.	0.0002	0	0	0	0.0003	0.0003	0	8.531e-05	0.0001164	18	154602	rs200374127	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	4.663e-05	0.0004	2.541e-05	0.0001	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	9.793e-05	8.3e-05	0.0001	0.0001	2.422e-05	0	0.0002	0.0003	0	0.0002	0	0.0002	0	0	0.931	0.02245	T	1.0	0.01155	T	0.16	0.28337	B	0.048	0.24975	B	0.000004	0.62929	U	0.058649	0.969548	0.38735	D	-0.46	0.02758	N	-2.01	0.85468	D	0.9	0.01618	N	0.162	0.17002	-0.7392	0.58493	T	0.238	0.60559	T	10	0.15834075	0.29778	T	0.713438	0.97672	D	0.265	0.57870	.	.	0.390292564088	0.38643	0.39045763158092606	0.38960	.	.	0.880396127701	0.94013	D	0.083139	0.36987	T	-0.328222	0.06246	T	-0.434945	0.29375	T	0.0710578560829163	0.08799	T	.	.	.	0.08825126	0.20580	0.067840435	0.14089	0.08825126	0.20580	0.067840435	0.14088	-8.944	0.67336	D	.	.	0.142	0.31203	B	.	.	3.389823	0.46927	22.4	0.97912185458760159	0.36822	0.60273	0.31149	D	AEFDBCI	.	.	.	-0.29066110533768	0.29508	1.636986	-0.0765843804772436	0.36361	2.115071	0.999999998275027	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.618803	0.45993	0	.	.	4.32	4.32	0.50899	4.828000	0.62420	4.652000	0.44201	0.506000	0.23061	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.7415:0.0:0.2585	6.009	0.18790	10	0.99061	C1q domain|C1q domain|C1q domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1181.43	33	chr11	47590168	.	C	T	1181.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=397;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=1.23;SOR=0.837	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	9	0	1	0
chr11	47980978	47980980	GCT	-	exonic	PTPRJ	.	nonframeshift deletion	PTPRJ:NM_001098503:exon1:c.66_68del:p.L28del,PTPRJ:NM_002843:exon1:c.66_68del:p.L28del	Colon cancer, somatic	322	1192	8	0	0	8	0.00334448	.	.	.	3511870	PTPRJ-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	0	3.84e-05	1	26028	rs747484779	0.0005	0.0063	0.0004	0.0005	0.0020	0.0004	0.0004	0.0012	0.0010	0.0006	0.0020	0.0013	0.0013	0.0014	0.0011	0.0004	0.0007	0.0004	5.448e-05	0.0002	5.308e-05	5.596e-05	0.0004	2.639e-05	1.889e-05	7.424e-05	3.079e-05	4.938e-05	0	6.709e-05	0	0.0004	0.0001	0	3.015e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011416	0.000000	0.024390	0.014706	0.000000	0.000000	0.000000	0.017857	0.05	55.43	6	chr11	47980977	.	CGCT	C	55.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.619;DP=42;ExcessHet=0;FS=0;InbreedingCoeff=-0.0844;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.619;SOR=0.307	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,33	9	0	1	0
chr11	48127926	48127926	G	A	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon7:c.G1240A:p.V414I,PTPRJ:NM_002843:exon7:c.G1240A:p.V414I	Colon cancer, somatic	0	1499	22	1	0	24	0.00794176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0116705615504	0.0004	0.00119808	0.0015	9.614e-05	0.0012	0.0003	0	0.0018	0.0044	0.0024	0.0013713	212	154602	rs140746006	0.0013	0.0013	0.0012	0.0014	0.0049	0.0013	0.0013	0.0034	0.0030	0.0001	0.0005	0.0114	0.0004	5.616e-05	0.0049	0.0011	0.0015	0.0026	0.0011	0.0011	0.0012	0.0009	0.0029	0.0009	0.0009	0.0018	0.0014	0.0002	0.0230	0.0007	0.0101	0.0006	0	0.0068	0.0009	0.0019	0.0029	0.096	0.35918	T	0.594	0.40110	T	0.059	0.23051	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	1.25	0.31749	L	0.26	0.59314	T	-0.62	0.18248	N	0.043	0.01825	-1.0061	0.28126	T	0.118	0.41495	T	9	0.0033520758	0.00058	T	0.011671	0.29526	T	0.039	0.10176	.	.	0.328222422547	0.32431	0.2921843347707631	0.29131	0.208503196432	0.23322	0.294899940491	0.09643	T	0.06741	0.44670	T	-0.617045	0.00115	T	-0.664977	0.07935	T	0.000985619673784683	0.00009	T	0.349965	0.09588	T	0.02441966	0.01271	0.03101305	0.01631	0.025697712	0.01537	0.03845338	0.03716	-4.763	0.37950	T	.	.	0.094	0.16451	B	.;.;.;.	.;.;.;.	-0.151438	0.03348	0.591	0.90513917160501089	0.19770	0.04068	0.09521	N	AEFDGBI	0.041382	0.06283	N	-0.968431354754305	0.09283	0.4387319	-1.0398285619423	0.08919	0.4410208	0.997113070358759	0.35288	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	0.689	0.17197	-0.159000	0.10043	.	.	-0.722000	0.03793	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2492:0.0:0.3978:0.353	3.736	0.08038	137	0.94565	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.000000	0.000000	0.008621	0.009146	0.000000	0.05	2456.43	35	chr11	48127926	.	G	A	2456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=538;ExcessHet=0;FS=2.285;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=0.359;SOR=0.554	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1358	9	0	1	0
chr11	48264006	48264006	C	T	exonic	OR4X1	.	nonsynonymous SNV	OR4X1:NM_001004726:exon1:c.C146T:p.A49V	.	429	1064	28	1	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0024	0.00499201	0.0057	0.0004	0.0014	0	0	0.0023	0.0110	0.0307	0.004987	771	154602	rs140161944	0.0033	0.0033	0.0023	0.0043	0.0331	0.0032	0.0032	0.0321	0.0317	0.0003	0.0019	0.0004	7.562e-05	1.873e-05	0.0151	0.0014	0.0038	0.0331	0.0021	0.0021	0.0017	0.0026	0.0301	0.0019	0.0019	0.0261	0.0246	0.0002	0	0.0014	0	0	0	0.0136	0.0020	0.0047	0.0301	0.641	0.04987	T	0.749	0.04825	T	0.016	0.17332	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	-0.09	0.04745	N	4.05	0.03092	T	-0.01	0.07155	N	0.05	0.02179	-0.9392	0.42743	T	0.007	0.02399	T	9	0.0032618642	0.00056	T	.	.	.	0.058	0.16647	.	.	0.240491677333	0.23641	0.03274017999237801	0.03222	0.00236295596479	0.00204	0.209651574492	0.00796	T	0.004214	0.03621	T	-0.669274	0.00055	T	-0.709768	0.05307	T	0.00387996720140478	0.00041	T	0.265773	0.04346	T	0.08044628	0.18433	0.09165078	0.21558	0.08044628	0.18433	0.09165078	0.21558	-3.062	0.10865	T	.	.	0.094	0.14385	B	.	.	0.930220	0.13055	9.558	0.67536465930424483	0.08384	0.02843	0.07595	N	AEFBI	0.056275	0.10389	N	-0.76162368371316	0.14320	0.7123284	-0.647548850181261	0.18278	0.9757554	5.6347241608055E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	3.37	0.37692	-1.976000	0.01587	.	.	0.503000	0.22915	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.8957:0.0:0.1043	9.887	0.40439	120	0.95183	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015609	0.000000	0.013587	0.017544	0.000000	0.000000	0.009146	0.018939	0.05	2389.43	39	chr11	48264006	.	C	T	2389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.591;DP=514;ExcessHet=0;FS=2.461;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.64;SOR=0.517	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr11	48489213	48489213	G	T	exonic	OR4A47	.	nonsynonymous SNV	OR4A47:NM_001005512:exon1:c.G421T:p.V141L	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0006	0.00638978	0.0036	0.0065	0.0006	0	0	4.499e-05	0	0.022	0.0016521	43	26028	rs140225065	0.0016	0.0016	0.0009	0.0022	0.0230	0.0015	0.0015	0.0221	0.0218	0.0056	0.0004	0	5.04e-05	1.873e-05	0.0016	1.169e-05	0.0019	0.0230	0.0026	0.0026	0.0024	0.0029	0.0218	0.0024	0.0023	0.0184	0.0171	0.0065	0	0.0015	0	0	0	0	1.471e-05	0.0009	0.0218	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.006	0.12133	B	0.167642	0.17470	N	0.477728	1	0.08975	N	.	.	.	8.73	0.00091	T	1.9	0.00456	N	0.059	0.03069	-0.9317	0.43889	T	0.000	0.00039	T	9	0.004602611	0.00096	T	.	.	.	0.039	0.10176	0.4	0.42917	0.223146558224	0.21909	0.07902714692286372	0.07837	.	.	0.255084812641	0.04323	T	0.001964	0.01375	T	-0.689937	0.00042	T	-0.746238	0.03635	T	0.0103718480954056	0.00142	T	0.0131987	0.00071	T	0.06599199	0.14156	0.0350572	0.02687	0.06599199	0.14155	0.0350572	0.02686	-2.521	0.05926	T	.	.	0.092	0.13644	B	.	.	-1.360572	0.00389	0.007	0.44482903904664561	0.03423	0.03422	0.08551	N	AEFGI	0.086973	0.17634	N	-1.40330003124112	0.02610	0.1154821	-1.45367064581369	0.02737	0.1264358	1.00665622533671E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.84	-2.2	0.06601	-4.868000	0.00205	.	.	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1502:0.3733:0.2083:0.2682	1.622	0.02552	166	0.93555	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011158	0.005208	0.000000	0.047619	0.000000	0.000000	0.000000	0.011450	0.05	1555.43	33	chr11	48489213	.	G	T	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.96;DP=838;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.11;MQRankSum=-9.262;QD=15.1;ReadPosRankSum=-0.393;SOR=0.729	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	9	0	1	0
chr11	49981758	49981758	G	T	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.C744A:p.F248L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00149158585529	.	.	8.247e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs781968102	4.789e-06	4.788e-06	6.807e-06	2.75e-06	5.797e-05	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	0	3.312e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.021	0.58089	D	0.014	0.16867	B	0.084	0.29270	B	0.217972	0.16206	U	0.509754	1	0.08975	N	2.78	0.81115	M	8.3	0.00261	T	-5.07	0.82830	D	0.169	0.17966	-0.9760	0.35904	T	0.001	0.00287	T	10	0.083439976	0.13879	T	0.001492	0.02292	T	0.071	0.20720	0.361	0.36548	0.143124449307	0.13826	0.0742484740247856	0.07360	0.00354927273481	0.00305	0.315904021263	0.12800	T	0.018458	0.14879	T	-0.331576	0.05994	T	-0.617209	0.11405	T	0.482150673866272	0.31976	T	.	.	.	0.50090456	0.67147	0.4532994	0.68204	0.50090456	0.67148	0.4532994	0.68204	-6.514	0.50394	T	.	.	0.481	0.63712	A	.	.	0.402165	0.07734	4.414	0.9607195812040612	0.28626	0.02194	0.06410	N	AEFI	0.054397	0.09887	N	-0.890657052466009	0.11065	0.531946	-1.02298444565428	0.09280	0.4608336	4.99802564054448E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	-2.74	0.05582	-0.769000	0.04816	.	.	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.7123:0.0:0.2877:0.0	8.717	0.33575	224	0.91330	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	2302.12	34	chr11	49981758	.	G	T	2302.12	.	AC=2;AF=0.1;AN=20;DP=742;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.97;SOR=0.693	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	9	1	0	0
chr11	49981809	49981809	C	G	exonic	OR4C12	.	nonsynonymous SNV	OR4C12:NM_001005270:exon1:c.G693C:p.R231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00101041932848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	7.527e-06	1.367e-06	1.382e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.319	0.32965	B	0.513	0.47989	P	0.000281	0.46590	U	0.000000	0.999892	0.19781	N	3.385	0.91502	M	8.15	0.00286	T	-5.47	0.85617	D	0.443	0.48134	-1.0201	0.23682	T	0.001	0.00467	T	10	0.2346729	0.40512	T	0.00101	0.01096	T	0.082	0.23913	0.546	0.66015	0.208816687407	0.20498	0.25538346230412046	0.25452	0.0143582820659	0.01365	0.280902445316	0.07618	T	0.00991	0.08988	T	-0.164013	0.26145	T	-0.47337	0.25154	T	0.979287505149841	0.72753	D	.	.	.	0.73349935	0.79921	0.5844385	0.75904	0.73349935	0.79923	0.5844385	0.75904	-7.463	0.57350	T	.	.	0.227	0.45966	B	.	.	2.022533	0.25704	16.86	0.99082414752547343	0.52002	0.03228	0.08240	N	AEFI	0.047257	0.07937	N	-0.277187101321075	0.30032	1.670798	-0.409429265658249	0.24720	1.355288	1.23947310401179E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.98	1.05	0.19280	-1.007000	0.03777	.	.	0.260000	0.18395	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.574:0.0:0.426	4.568	0.11590	224	0.91330	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	44.18	60	chr11	49981809	.	C	G	44.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.545;DP=690;ExcessHet=0;FS=126.666;InbreedingCoeff=-0.2079;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.54;SOR=6.868	GT:AD:DP:GQ:PL	0/1:84,21:114:52:52,0,1843	5	0	1	4
chr11	54603676	54603676	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C323T:p.A108V	.	428	1078	15	1	0	17	0.00782329	.	.	.	2816628	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.00083339266817	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141105102	0.0073	0.0073	0.0075	0.0071	0.0108	0.0072	0.0072	0.0086	0.0081	0.0025	0.0031	0.0033	2.519e-05	0.0101	0.0108	0.0083	0.0055	0.0028	0.0058	0.0058	0.0061	0.0054	0.0079	0.0054	0.0053	0.0074	0.0072	0.0023	0.0440	0.0029	0.0014	0	0.0113	0.0170	0.0079	0.0043	0.0035	0.502	0.07695	T	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.94	0.00616	T	-1.59	0.38345	N	0.051	0.02272	.	.	.	.	.	.	.	0.0044759214	0.00092	T	.	.	.	.	.	.	.	.	.	0.839252078042215	0.83885	.	.	.	.	.	0.005303	0.04751	T	.	.	.	.	.	.	.	.	.	0.50065	0.15660	T	.	.	.	.	.	.	.	.	-5.348	0.40415	T	.	.	0.100	0.17189	B	.	.	0.743669	0.11133	7.775	.	.	.	.	.	.	0.027643	0.02294	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.014000	0.12594	.	.	-1.045000	0.01654	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1871.43	38	chr11	54603676	.	G	A	1871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.955;DP=898;ExcessHet=0;FS=4.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.62;MQRankSum=-0.086;QD=13.18;ReadPosRankSum=0.36;SOR=0.821	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr11	54603733	54603733	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C266T:p.A89V	.	.	.	.	.	.	.	.	.	.	.	2299009	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00105763354321	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs144006817	2.531e-05	2.531e-05	2.042e-05	3.026e-05	2.236e-05	1.868e-05	1.631e-05	1.32e-06	9.6e-07	0	2.236e-05	0.0010	0	0	0	4.497e-06	9.938e-05	0	3.286e-05	3.283e-05	5.139e-05	1.346e-05	2.413e-05	1.261e-05	7.98e-06	.	.	2.413e-05	0	0	0.0009	0	0	0	0	0.0005	0	0.048	0.40068	D	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.59	0.00519	T	-0.08	0.08187	N	0.04	0.01347	.	.	.	.	.	.	.	0.055717528	0.06134	T	.	.	.	.	.	.	.	.	.	0.6692323664589049	0.66861	.	.	.	.	.	0.001249	0.00734	T	.	.	.	.	.	.	.	.	.	0.116788	0.00897	T	.	.	.	.	.	.	.	.	-3.71	0.19466	T	.	.	0.078	0.06849	B	.	.	2.185092	0.27852	17.60	.	.	.	.	.	.	0.023735	0.01365	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.115000	0.10713	.	.	0.249000	0.18320	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1977.43	38	chr11	54603733	.	G	A	1977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.107;DP=798;ExcessHet=0;FS=6.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.27;MQRankSum=-2.244;QD=12.13;ReadPosRankSum=-0.076;SOR=1.15	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr11	55265071	55265071	A	G	exonic	TRIM48	.	nonsynonymous SNV	TRIM48:NM_024114:exon2:c.A216G:p.I72M	.	474	1046	0	2	0	4	0.0019084	.	.	.	3614366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00603839410093	.	.	8.461e-06	0	0	0	0	1.515e-05	0	0	3.84e-05	1	26028	rs200554737	6.967e-07	0.0002	1.384e-06	0	9.097e-07	0	0	.	.	0	0	0	0	0	0	9.097e-07	0	0	0	1.332e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.8	0.83893	D	1.51	0.00728	N	0.189	0.20660	-0.8977	0.48224	T	0.220	0.58358	T	9	0.044616252	0.03439	T	0.006038	0.15787	T	0.205	0.49236	.	.	0.209622950755	0.20551	0.043442793869675284	0.04289	0.0030321674903	0.00261	0.559126973152	0.47145	T	.	.	.	-0.114763	0.33982	T	-0.402626	0.33078	T	0.0155853908576045	0.00355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01622	B	.	.	0.234350	0.06155	2.600	0.34479908100757001	0.02111	0.00158	0.00946	N	AEFI	0.017976	0.00510	N	-1.44646405740079	0.02245	0.0989146	-1.52489806435378	0.02154	0.09863201	1.3411304174261E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.596	-1.19	0.09091	-0.106000	0.10860	-6.607000	0.01353	0.172000	0.17770	0.001000	0.13787	0.000000	0.08366	0.211000	0.22211	0.5674:0.0:0.4326:0.0	4.051	0.09277	160	0.93798	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	76.43	36	chr11	55265071	.	A	G	76.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.537;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.74;MQRankSum=-9.852;QD=0.65;ReadPosRankSum=-3.31;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1174:.	9	0	1	0
chr11	55555249	55555249	C	T	exonic	OR4C15	.	nonsynonymous SNV	OR4C15:NM_001001920:exon1:c.C781T:p.P261S	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00252046330855	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214003487	6.841e-06	6.84e-06	8.168e-06	5.501e-06	0.0003	3.46e-06	2.52e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	2.698e-06	6.623e-05	1.159e-05	6.576e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.547	0.06648	T	0.666	0.06386	T	0.08	0.24543	B	0.119	0.32162	B	.	.	.	.	0.979192	0.25198	N	-0.235	0.03917	N	8.77	0.00063	T	-1.36	0.33798	N	0.087	0.06454	-1.1176	0.02489	T	0.000	0.00075	T	9	0.043889076	0.03287	T	0.00252	0.05037	T	0.133	0.36157	0.245	0.17984	0.0551355673512	0.04727	0.03566131936480387	0.03513	.	.	0.239220887423	0.02721	T	.	.	.	-0.257634	0.13178	T	-0.592364	0.13461	T	0.149723064604183	0.17081	T	0.0916908	0.00679	T	0.040305063	0.05729	0.12787752	0.30775	0.040305063	0.05728	0.12787752	0.30774	-3.069	0.10943	T	.	.	0.121	0.25199	B	.;.	.;.	0.988495	0.13663	10.20	0.43222020485584789	0.03239	0.08827	0.14698	N	AEFI	0.059777	0.11316	N	-1.00706700830954	0.08456	0.3965698	-0.86799650559683	0.12856	0.6637153	6.67513770717117E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	4.09	0.47038	-0.935000	0.04059	-20.000000	0.00162	0.438000	0.21043	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0:0.8383:0.1617:0.0	13.170	0.59017	145	0.94217	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2198.43	34	chr11	55555249	.	C	T	2198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.431;DP=551;ExcessHet=0;FS=2.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.38;SOR=0.522	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	9	0	1	0
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.036757	0.015152	0.031250	0.052632	0.050000	0.077586	0.021341	0.037879	0.1	2826.14	36	chr11	55773543	.	G	A	2826.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.192;DP=519;ExcessHet=0.2348;FS=5.18;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.756;SOR=1.008	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	8	0	2	0
chr11	55994391	55994391	G	A	exonic	OR5F1	.	nonsynonymous SNV	OR5F1:NM_003697:exon1:c.C235T:p.P79S	.	430	1052	40	0	0	40	0.0186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	.	0.0025	0.00339457	0.0045	0.0010	0.0032	0	0.0006	0.0044	0.0088	0.0115	0.0041461	641	154602	rs144123172	0.0036	0.0036	0.0033	0.0039	0.0125	0.0035	0.0035	0.0114	0.0111	0.0006	0.0028	0.0146	0	0.0005	0.0125	0.0030	0.0044	0.0120	0.0031	0.0031	0.0032	0.0030	0.0098	0.0029	0.0028	0.0075	0.0067	0.0008	0	0.0046	0.0115	0.0002	0.0003	0	0.0040	0.0038	0.0098	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999765	0.48888	D	3.415	0.91848	M	4.6	0.01868	T	-7.33	0.94566	D	0.434	0.47301	-1.0590	0.12007	T	0.024	0.10013	T	9	0.008101344	0.00184	T	.	.	.	0.341	0.66297	.	.	0.553913597673	0.55050	0.32035287559718434	0.31948	0.0793572366355	0.08926	0.259348064661	0.04813	T	0.044532	0.26845	T	-0.320121	0.06888	T	-0.22222	0.52522	T	0.0579174086102847	0.06836	T	0.908909	0.67748	D	0.80138326	0.83994	0.58413935	0.75887	0.80138326	0.83995	0.58413935	0.75888	-8.388	0.63686	D	.	.	0.386	0.58785	A	.	.	3.739859	0.53550	23.4	0.99841104463419506	0.92143	0.99097	0.91181	D	AEFI	0.600502	0.59311	D	0.645069260386401	0.76049	6.415539	0.446268625743228	0.64478	4.703868	0.893234601683298	0.25901	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.03	3.03	0.34070	6.955000	0.75805	3.671000	0.39437	0.312000	0.19173	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	12.892	0.57469	161	0.93754	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.014946	0.002924	0.000000	0.008621	0.012270	0.034091	0.1	3974.14	70	chr11	55994391	.	G	A	3974.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=631;ExcessHet=0.2348;FS=3.366;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.01;MQRankSum=-0.456;QD=14.83;ReadPosRankSum=-0.727;SOR=0.778	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	8	0	2	0
chr11	56232152	56232152	C	T	exonic	OR5T2	.	nonsynonymous SNV	OR5T2:NM_001004746:exon2:c.G1034A:p.G345E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00545914372308	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.025e-07	5.473e-06	1.397e-06	0	2.746e-05	0	0	.	.	0	2.746e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.757	0.03512	T	0.656	0.06598	T	0.0	0.02946	B	0.001	0.04355	B	0.677840	0.10284	U	0.801799	1	0.08975	N	0.59	0.15444	N	1.13	0.38556	T	-0.27	0.11366	N	0.1	0.08227	-0.9699	0.37220	T	0.042	0.17910	T	10	0.05990079	0.07273	T	0.005459	0.14045	T	0.018	0.03083	0.357	0.35897	0.0297737177859	0.01360	0.06388371870701114	0.06327	0.00246300865135	0.00212	0.195761352777	0.00344	T	0.002916	0.02309	T	-0.387663	0.02785	T	-0.794628	0.02040	T	0.0230733904977091	0.01032	T	0.20398	0.02363	T	0.060854424	0.12535	0.046174176	0.06377	0.060854424	0.12534	0.046174176	0.06377	-5.452	0.41417	T	.	.	0.100	0.23219	B	.;.	.;.	-0.669596	0.01392	0.081	0.37697994307395438	0.02499	0.00213	0.01210	N	AEFI	0.019794	0.00720	N	-1.5905100328211	0.01312	0.05715967	-1.71707041097745	0.01064	0.04776219	0.0841018253829391	0.15946	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.76	-9.53	0.00484	-2.056000	0.01484	.	.	-0.436000	0.05186	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.0932:0.1821:0.1861:0.5387	3.874	0.08556	190	0.92594	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1466.43	37	chr11	56232152	.	C	T	1466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=428;ExcessHet=0;FS=4.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-0.403;SOR=1.17	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr11	56290288	56290288	A	C	exonic	OR8H1	.	nonsynonymous SNV	OR8H1:NM_001005199:exon1:c.T775G:p.L259V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00381174958625	.	.	5.781e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs765109539	2.259e-05	2.257e-05	9.537e-06	3.578e-05	0.0004	1.611e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0.0002	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.156	0.32891	T	0.267	0.31683	B	0.344	0.42549	B	0.000919	0.41128	D	0.000000	1	0.08975	N	1.28	0.32218	L	1.06	0.39781	T	-2.35	0.51968	N	0.04	0.01347	-1.0040	0.28755	T	0.087	0.33746	T	10	0.061759025	0.07791	T	0.003812	0.08899	T	0.056	0.15993	0.635	0.77142	0.251116650651	0.24721	0.04522739599680986	0.04466	0.0572116239721	0.06330	0.191624045372	0.00255	T	0.010139	0.09180	T	-0.502299	0.00555	T	-0.648776	0.09040	T	0.0939883940804619	0.11683	T	0.671533	0.28733	T	0.12239642	0.28762	0.10857522	0.26155	0.12239642	0.28762	0.10857522	0.26155	-5.277	0.39714	T	.	.	0.138	0.30157	B	.;.;.	.;.;.	2.182252	0.27816	17.59	0.92011275055576836	0.21348	0.01476	0.04917	N	AEI	0.035771	0.04658	N	-1.1527586603116	0.05735	0.262214	-1.25079469954746	0.05120	0.2431732	1.98023016112841E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.73	1.2	0.20181	-0.977000	0.03892	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.161000	0.20682	0.4807:0.2917:0.0863:0.1414	2.409	0.04150	187	0.92701	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2186.43	34	chr11	56290288	.	A	C	2186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.661;DP=704;ExcessHet=0;FS=1.379;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=-0.819;QD=15.73;ReadPosRankSum=-0.051;SOR=0.851	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	56319077	56319077	G	C	exonic	OR8K3	.	nonsynonymous SNV	OR8K3:NM_001005202:exon1:c.G771C:p.M257I	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00134783890589	0.0003	0.00119808	0.0008	9.614e-05	0.0002	0	0	0.0004	0.0055	0.0041	0.0007115	110	154602	rs150576458	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0004	0.0035	0.0034	0	6.71e-05	0	0	0	0.0026	0.0003	0.0007	0.0038	0.0003	0.0003	0.0002	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	7.218e-05	0	0	0	0	0	0	0.0003	0.0005	0.0037	.	.	.	.	.	.	0.039	0.21116	B	0.12	0.32230	B	0.000045	0.53742	N	0.078950	0.965178	0.25950	N	1.06	0.26948	L	.	.	.	.	.	.	.	.	-1.0079	0.27572	T	0.000	0.00152	T	10	0.004699081	0.00099	T	0.001348	0.01936	T	.	.	0.344	0.33788	.	.	0.14507739362681482	0.14430	.	.	0.246215850115	0.03379	T	0.024615	0.18566	T	-0.569801	0.00222	T	-0.5914	0.13545	T	0.0460714020757364	0.04797	T	0.673133	0.28166	T	0.27680796	0.50741	0.4421265	0.67473	0.27680796	0.50741	0.4421265	0.67473	-4.383	0.29326	T	.	.	0.283	0.54405	B	.;.;.	.;.;.	2.543475	0.32903	19.18	0.96979823865404358	0.31855	0.69946	0.34390	D	AEFBI	0.076460	0.15381	N	-0.189350025225239	0.33578	1.906511	-0.0801487917954386	0.36212	2.104506	1.50422464806738E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	-0.216000	0.09271	.	.	0.509000	0.23192	0.000000	0.06391	0.005000	0.19230	0.992000	0.67800	0.0:0.1891:0.642:0.1689	7.793	0.28293	189	0.92630	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1613.43	39	chr11	56319077	.	G	C	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.852;SOR=0.742	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr11	56376027	56376027	T	C	exonic	OR8U1;OR8U8	.	nonsynonymous SNV	OR8U1:NM_001005204:exon1:c.T404C:p.V135A	.	414	1089	19	0	0	19	0.00864816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00565811420952	.	.	0.0023	0.0002	0.0012	0	0.0038	0.0035	0.0022	0.0002	3.84e-05	1	26028	rs760935158	0.0009	0.0045	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0004	0.0005	0.0006	2.519e-05	0.0043	0.0009	0.0008	0.0011	4.646e-05	0.0073	0.0093	0.0075	0.0071	0.0113	0.0069	0.0068	0.0106	0.0104	0.0018	0.0011	0.0081	0.0046	0	0.0102	0	0.0113	0.0076	0.0012	0.185	0.21550	T	0.197	0.27855	T	0.001	0.07471	B	0.002	0.06944	B	0.166970	0.03081	N	1.797880	1	0.08975	N	.	.	.	7.58	0.00361	T	-2.8	0.59226	D	0.103	0.08646	-0.8323	0.53152	T	0.001	0.00348	T	10	0.009369731	0.00212	T	0.005658	0.14651	T	0.063	0.18251	.	.	0.0482279557977	0.04254	0.09713371616625528	0.09644	0.100390654718	0.11348	.	.	.	0.009199	0.08389	T	-0.283283	0.10323	T	-0.644693	0.09331	T	0.0326191138395496	0.02409	T	0.141486	0.01146	T	0.05956114	0.12120	0.06975197	0.14734	0.05956114	0.12120	0.06975197	0.14734	-4.328	0.28568	T	.	.	0.097	0.15654	B	.	.	-0.008985	0.04221	1.035	0.50760876740434258	0.04441	0.20731	0.21148	N	AEFGBI	0.076425	0.15374	N	-1.04148711544265	0.07756	0.3613392	-1.0447906327831	0.08815	0.4353224	1.24791852932102E-4	0.05386	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.78	2.3	0.27735	0.478000	0.21922	.	.	-1.905000	0.00520	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3116:0.0:0.6884	7.231	0.25219	190	0.92594	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	381.43	35	chr11	56376027	.	T	C	381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.04;DP=2516;ExcessHet=0;FS=2.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=-0.405;SOR=0.614	GT:AD:DP:GQ:PL	0/0:250,0:250:99:0,120,1800	9	0	1	0
chr11	56413489	56413489	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs751321890	0.0003	0.0001	0.0003	0.0004	0.0002	0.0003	0.0003	0.0001	0.0001	0	0	0.0050	0	0	0	0.0002	0.0006	0	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	8.879e-05	2.413e-05	0	0	0.0066	0	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1954.43	38	chr11	56413489	.	A	G	1954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=655;ExcessHet=0;FS=2.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.636;SOR=0.775	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr11	56490781	56490781	G	C	exonic	OR5M8	.	stopgain	OR5M8:NM_001005282:exon1:c.C590G:p.S197X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003636	0.34687	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.035	0.01004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47943	0.93678	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.496927	0.95306	34	0.99125362924307858	0.53116	0.30783	0.24171	N	AEFI	0.076550	0.15401	N	0.375538505529963	0.60099	4.195273	0.0977063366325691	0.44434	2.725191	4.23090794197E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.35	3.41	0.38145	1.202000	0.31878	.	.	0.613000	0.49114	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.786:0.0	6.190	0.19730	259	0.89842	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1451.43	33	chr11	56490781	.	G	C	1451.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.421;DP=434;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=1.61;SOR=0.794	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr11	56664208	56664208	A	G	exonic	OR5AR1	.	nonsynonymous SNV	OR5AR1:NM_001004730:exon1:c.A523G:p.N175D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00131596266405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.14184	B	0.019	0.18783	B	0.000076	0.52346	D	0.000000	0.986732	0.24587	N	0.1	0.08449	N	.	.	.	.	.	.	.	.	-0.9954	0.31191	T	0.000	0.00114	T	10	0.07655746	0.11974	T	0.001316	0.01834	T	.	.	0.566	0.68768	.	.	0.1756802264442806	0.17487	.	.	0.40213316679	0.25366	T	0.012636	0.11071	T	-0.299658	0.08692	T	-0.668215	0.07724	T	0.498746454715729	0.32584	T	0.30297	0.05734	T	0.33989102	0.56271	0.34797403	0.60444	0.33989102	0.56271	0.34797403	0.60443	-5.18	0.38738	T	.	.	0.097	0.15966	B	.	.	2.474635	0.31903	18.88	0.99082378479530342	0.52002	0.56834	0.30219	D	AEFI	0.115127	0.22649	N	-0.450742056537222	0.23714	1.275448	-0.310266629762479	0.27766	1.543063	1.81231068142571E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.8	3.65	0.40985	1.654000	0.36950	.	.	0.656000	0.54149	0.160000	0.23797	0.017000	0.20586	0.993000	0.69303	0.6407:0.0:0.1702:0.1891	2.931	0.05444	447	0.79583	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2444.43	34	chr11	56664208	.	A	G	2444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.02;DP=688;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-1.974;SOR=0.625	GT:AD:DP:GQ:PL	0/1:139,106:245:99:2456,0,3522	9	0	1	0
chr11	56701016	56701016	C	T	exonic	OR9G1;OR9G9	.	nonsynonymous SNV	OR9G9:NM_001013358:exon1:c.C629T:p.A210V,OR9G1:NM_001005213:exon2:c.C629T:p.A210V	.	400	1119	3	0	0	3	0.00133869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00348474336047	.	.	0.0014	0.0004	0.0016	0	0.0003	0.0021	0.0022	0.0002	0.0010867	168	154602	rs138263863	0.0010	0.0018	0.0010	0.0010	0.0019	0.0009	0.0009	0.0011	0.0010	0.0002	0.0011	0.0028	5.038e-05	0.0003	0.0019	0.0011	0.0011	0.0001	0.0012	0.0015	0.0013	0.0011	0.0025	0.0011	0.0010	0.0019	0.0016	0.0004	0	0.0025	0.0029	0	0.0003	0	0.0017	0.0005	0	0.476	0.08335	T	0.738	0.05018	T	0.032	0.20242	B	0.152	0.34249	B	0.669861	0.10351	N	0.837278	1	0.08975	N	0.11	0.08516	N	1.31	0.35405	T	1.82	0.00501	N	0.08	0.05542	-0.9396	0.42679	T	0.026	0.10998	T	10	0.005960077	0.00134	T	0.003485	0.07878	T	0.065	0.18881	.	.	0.1749357433	0.17121	0.055413513455526295	0.05482	0.0021997615759	0.00188	0.167352437973	0.00023	T	0.001596	0.01030	T	-0.377805	0.03216	T	-0.780467	0.02439	T	0.0234454499978936	0.01076	T	0.522448	0.17034	T	0.022995716	0.01004	0.036214836	0.03024	0.022995716	0.01004	0.036214836	0.03024	-2.978	0.09946	T	.	.	0.100	0.17016	B	.;.	.;.	-0.703329	0.01314	0.071	0.58917946813618272	0.06103	0.00161	0.00961	N	AEFBI	0.027132	0.02161	N	-1.32334929055803	0.03409	0.1522477	-1.27514634275585	0.04769	0.2257362	0.997535004055587	0.35727	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.52	0.014	0.13419	-3.398000	0.00538	.	.	-0.286000	0.06345	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3207:0.0:0.6793	9.272	0.36835	438	0.80235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003109	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	245.43	223	chr11	56701016	.	C	T	245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=2185;ExcessHet=0;FS=2.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.473;SOR=0.858	GT:AD:DP:GQ:PL	0/0:190,0:190:99:0,120,1800	9	0	1	0
chr11	57379730	57379730	C	T	exonic	PRG3	.	nonsynonymous SNV	PRG3:NM_006093:exon3:c.G139A:p.E47K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00376170926973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.444	0.13177	T	0.998	0.73220	D	0.896	0.63555	P	0.690142	0.10183	N	0.850395	1	0.08975	N	2.505	0.72935	M	3.57	0.04645	T	-2.14	0.48523	N	0.121	0.11197	-0.9986	0.30311	T	0.026	0.11176	T	10	0.110052705	0.20554	T	0.003762	0.08744	T	0.032	0.07718	0.274	0.22528	0.365892764245	0.36201	0.42860867135048925	0.42777	0.0486226977544	0.05311	0.269430577755	0.06067	T	0.093645	0.39254	T	-0.250683	0.14014	T	-0.597865	0.12992	T	0.20536593848873	0.20708	T	0.652235	0.26282	T	0.10989174	0.25978	0.07002446	0.14827	0.10989174	0.25978	0.07002446	0.14827	-5.365	0.40582	T	.	.	0.080	0.07554	B	.	.	1.475552	0.19003	14.04	0.99258573592212263	0.57121	0.73366	0.35888	D	AEFDGBHCI	0.057001	0.10582	N	-0.378796946062851	0.26227	1.429705	-0.619901213133764	0.18981	1.016457	0.016770249721053	0.12870	0.648878	0.45929	0	0.55458	0.17659	0	0.596394	0.31383	0	0.562822	0.20929	0	.	.	4.84	-0.51	0.11376	0.147000	0.16021	-0.543000	0.08571	0.549000	0.26987	0.095000	0.22689	0.000000	0.08366	0.016000	0.10718	0.0:0.41:0.3156:0.2744	4.412	0.10864	329	0.86514	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1834.43	103	chr11	57379730	.	C	T	1834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.753;DP=1131;ExcessHet=0;FS=2.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=-0.828;SOR=0.511	GT:AD:DP:GQ:PL	0/1:77,75:152:99:1846,0,1982	9	0	1	0
chr11	57494049	57494049	G	A	exonic	SLC43A1	.	nonsynonymous SNV	SLC43A1:NM_001198810:exon8:c.C815T:p.S272L,SLC43A1:NM_003627:exon8:c.C815T:p.S272L	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0126954476438	0.0012	0.000199681	0.0013	0.0002	0.0007	0	0	0.0019	0.0033	0.0013	0.0011772	182	154602	rs141990229	0.0012	0.0012	0.0011	0.0013	0.0050	0.0012	0.0012	0.0036	0.0031	0.0003	0.0005	7.685e-05	2.544e-05	7.494e-05	0.0050	0.0014	0.0009	0.0012	0.0007	0.0007	0.0007	0.0007	0.0012	0.0006	0.0005	0.0010	0.0009	0.0002	0	0.0005	0	0	0	0.0034	0.0012	0.0009	0.0006	0.31	0.14843	T	0.328	0.18675	T	0.371	0.34093	B	0.067	0.27542	B	0.161907	0.03045	N	1.609460	1	0.08975	N	-0.14	0.04484	N	1.9	0.30669	T	-1.53	0.37178	N	0.09	0.06854	-1.0628	0.11069	T	0.032	0.13548	T	10	0.006629914	0.00150	T	0.012695	0.31483	T	0.008	0.00669	.	.	0.139678290688	0.13603	0.25561401696310515	0.25475	0.233796027641	0.25916	0.287250071764	0.08523	T	0.410513	0.76523	T	-0.59587	0.00154	T	-0.635966	0.09967	T	0.000961220960894041	0.00009	T	0.760024	0.40643	T	0.040809218	0.05896	0.038986206	0.03888	0.040809218	0.05895	0.038986206	0.03888	-4.199	0.26737	T	.	.	0.070	0.03849	B	.;.;.	.;.;.	0.657047	0.10255	6.990	0.70767765664971805	0.09404	0.07936	0.13922	N	AEFDGBHCI	0.160504	0.28644	N	-1.19770406255005	0.05035	0.228595	-1.23845956227133	0.05304	0.2524006	0.999673704608104	0.41644	0.562547	0.31514	0	0.653731	0.59785	0	0.601644	0.32324	0	0.635551	0.53088	0	.	.	5.28	-2.25	0.06498	0.056000	0.14136	0.575000	0.19646	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.0817:0.3581:0.2288:0.3314	3.276	0.06494	71	0.96981	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	1306.43	34	chr11	57494049	.	G	A	1306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=436;ExcessHet=0;FS=3.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.5;SOR=1	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1237	9	0	1	0
chr11	57546586	57546586	T	C	exonic	SMTNL1	.	nonsynonymous SNV	SMTNL1:NM_001105565:exon7:c.T1274C:p.F425S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.950	0.654611149581	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1410688382	2.736e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	5.618e-05	0.0002	0	0	0	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.407e-05	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006300	0.32136	U	0.000000	0.999997	0.58761	D	3.235	0.89610	M	-3.54	0.94799	D	-8.0	0.96495	D	0.931	0.98167	1.042	0.97957	D	0.914	0.97167	D	10	0.97522545	0.97264	D	0.654611	0.97085	D	0.950	0.99058	.	.	0.704652368328	0.70208	0.773031221992298	0.77253	.	.	0.742881834507	0.73397	T	0.838524	0.98762	D	0.539013	0.95377	D	0.536479	0.95308	D	0.998911261558533	0.95567	D	0.970403	0.89535	D	0.848136	0.87198	0.8023758	0.88419	0.848136	0.87200	0.8023758	0.88420	.	.	.	.	.	0.998	0.97401	P	.;.	.;.	4.666541	0.74536	26.2	0.99887352159742837	0.96204	0.97760	0.76934	D	AEFDBI	0.917280	0.88467	D	0.819649663298548	0.87319	9.176865	0.739133014595694	0.85343	8.552227	0.999998211664295	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	7.961000	0.87447	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.809000	0.38129	0.0:0.0:0.0:1.0	13.342	0.59992	0	0.99858	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2673.14	124	chr11	57546586	.	T	C	2673.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.139;DP=542;ExcessHet=0.2348;FS=2.102;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.079;SOR=0.835	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1302	8	0	2	0
chr11	57741941	57741941	C	T	exonic	SELENOH	.	unknown	UNKNOWN	.	416	1049	52	5	0	62	0.0287037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0077	0.00419329	0.0103	0.0014	0.0036	0	0.0035	0.0144	0.0114	0.0102	0.007322	1132	154602	rs1127680	0.0066	0.0066	0.0064	0.0068	0.0306	0.0065	0.0064	0.0268	0.0254	0.0009	0.0041	0.0818	0	0.0036	0.0306	0.0050	0.0118	0.0082	0.0061	0.0061	0.0063	0.0060	0.0091	0.0058	0.0057	0.0070	0.0062	0.0008	0	0.0046	0.0841	0	0.0042	0.0204	0.0062	0.0085	0.0091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031282	0.030303	0.027174	0.026316	0.050000	0.034483	0.049383	0.030303	0.1	2232.12	37	chr11	57741941	.	C	T	2232.12	.	AC=2;AF=0.1;AN=20;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.96;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,105,1136:.	9	1	0	0
chr11	58031031	58031031	C	T	exonic	OR6Q1	.	nonsynonymous SNV	OR6Q1:NM_001005186:exon1:c.C79T:p.L27F	.	434	1083	3	2	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00363523503977	0.0016	0.000998403	0.0011	0.0002	0.0003	0	0	0.0017	0.0011	0.0010	0.0010284	159	154602	rs75126969	0.0011	0.0011	0.0010	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0003	0.0005	0.0023	2.519e-05	1.872e-05	0.0043	0.0011	0.0009	0.0014	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0002	0.0017	0.0002	0	0.0136	0.0015	0.0019	0.0008	0.601	0.05618	T	.	.	.	0.027	0.19556	B	0.024	0.20255	B	0.694460	0.06165	N	1.246920	1	0.08975	N	1.435	0.35949	L	7.31	0.00421	T	-0.81	0.22294	N	0.042	0.01498	-0.9746	0.36213	T	0.001	0.00255	T	10	0.009417981	0.00213	T	0.003635	0.08340	T	0.014	0.01968	.	.	0.0551355673512	0.04727	0.07002682569971383	0.06939	0.0351969744891	0.03713	0.197341561317	0.00384	T	0.011654	0.10368	T	-0.668838	0.00056	T	-0.763595	0.02985	T	0.00109979949434447	0.00011	T	0.170983	0.01619	T	0.05155552	0.09486	0.052616816	0.08704	0.05155552	0.09486	0.052616816	0.08703	-4.71	0.33525	T	.	.	0.085	0.09965	B	.	.	-0.444490	0.02052	0.187	0.32540684684743304	0.01891	0.05065	0.10857	N	AEFBI	0.060685	0.11551	N	-1.35541503854306	0.03070	0.1365301	-1.39477615941573	0.03307	0.1540123	0.00286400637471297	0.09760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.32	-1.88	0.07294	-1.792000	0.01853	-4.040000	0.02377	-1.122000	0.01471	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.123:0.3624:0.1205:0.3941	2.089	0.03431	421	0.81399	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	2219.43	34	chr11	58031031	.	C	T	2219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.175;DP=553;ExcessHet=0;FS=2.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.13;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	9	0	1	0
chr11	58191155	58191155	T	G	exonic	OR9Q2	.	nonsynonymous SNV	OR9Q2:NM_001005283:exon1:c.T665G:p.I222S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0102389242837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.034	0.52727	D	0.993	0.65571	D	0.936	0.67150	D	0.152163	0.17931	N	0.463064	1	0.08975	N	2.59	0.75718	M	8.56	0.00185	T	-4.32	0.76655	D	0.408	0.44857	-0.9036	0.47606	T	0.002	0.00646	T	10	0.37605628	0.53840	T	0.010239	0.26544	T	0.144	0.38394	0.552	0.66856	0.433269665224	0.42948	0.41074728160468243	0.40990	0.726015332404	0.62491	0.312070131302	0.12220	T	0.077652	0.35704	T	-0.155771	0.27412	T	-0.46153	0.26431	T	0.929652810096741	0.59385	D	0.761424	0.38629	T	0.48890394	0.66437	0.42564547	0.66367	0.48890394	0.66438	0.42564547	0.66367	-6.351	0.49125	T	.	.	0.207	0.43380	B	.;.	.;.	3.441457	0.47879	22.5	0.98544507221884159	0.42757	0.33250	0.24783	N	AEFBI	0.194653	0.32173	N	0.204356690405035	0.51409	3.322455	0.00741311531832586	0.40058	2.384693	4.55941433130536E-4	0.07036	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	1.174000	0.31541	1.115000	0.24192	0.665000	0.62972	0.002000	0.15269	0.002000	0.18203	0.103000	0.18424	0.0:0.0:0.0:1.0	14.255	0.65591	360	0.84920	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2480.43	159	chr11	58191155	.	T	G	2480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.496;DP=895;ExcessHet=0;FS=1.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.064;SOR=0.835	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr11	58203261	58203261	A	C	exonic	OR1S2	.	nonsynonymous SNV	OR1S2:NM_001004459:exon1:c.T921G:p.N307K	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.005240273836	.	.	2.475e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs763409636	2.736e-05	2.736e-05	2.042e-05	3.438e-05	0.0010	2.063e-05	1.816e-05	0.0005	0.0003	0	0	0	0	0	0.0010	8.993e-06	9.937e-05	0.0002	1.971e-05	1.97e-05	0	4.036e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000066	0.52346	D	0.000000	0.951368	0.26474	N	3.44	0.92123	M	0.76	0.49919	T	-4.61	0.79060	D	0.771	0.76853	-0.5780	0.65696	T	0.366	0.72643	T	10	0.68556035	0.71540	D	0.00524	0.13371	T	0.245	0.55201	0.82	0.93328	0.641312022691	0.63835	0.177284372935808	0.17647	0.0212160073365	0.02100	.	.	.	0.014395	0.12263	T	-0.270097	0.11747	T	-0.333603	0.41067	T	0.833222495323376	0.48783	D	0.911709	0.68653	D	0.909728	0.92269	0.8415103	0.90938	0.909728	0.92270	0.8415103	0.90938	-8.3	0.63095	D	.	.	0.303	0.53229	B	.;.	.;.	3.107711	0.41911	21.4	0.99545867742817873	0.70836	0.71601	0.35084	D	AEGI	0.271092	0.38702	N	0.261263322994279	0.54198	3.586061	0.0760662620227048	0.43348	2.638426	7.07650634000911E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.75	-0.32	0.12090	0.345000	0.19720	-0.040000	0.12681	-0.137000	0.12594	0.639000	0.28076	0.006000	0.19429	0.995000	0.73285	0.4334:0.0:0.5666:0.0	9.252	0.36720	360	0.84920	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2603.43	35	chr11	58203261	.	A	C	2603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.582;DP=538;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.54;MQRankSum=-1.934;QD=11.83;ReadPosRankSum=0.721;SOR=0.607	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr11	58403321	58403321	G	A	exonic	OR5B3	.	nonsynonymous SNV	OR5B3:NM_001005469:exon1:c.C89T:p.P30L	.	441	1063	17	1	0	19	0.00885781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0080	0.00738818	0.0053	0.0167	0.0037	0	0.0065	0.0054	0.0073	0.0016	0.0047412	733	154602	rs17152661	0.0031	0.0031	0.0031	0.0031	0.0151	0.0031	0.0030	0.0137	0.0132	0.0147	0.0036	0.0152	7.557e-05	0.0052	0.0151	0.0025	0.0040	0.0020	0.0076	0.0076	0.0076	0.0076	0.0151	0.0072	0.0071	0.0141	0.0137	0.0151	0	0.0060	0.0183	0.0002	0.0046	0.0250	0.0038	0.0106	0.0021	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.941653	0.08349	N	0.966290	1	0.08975	N	-3.825	0.00001	N	8.39	0.00243	T	2.85	0.00163	N	0.062	0.03392	-0.9030	0.47673	T	0.000	0.00011	T	10	0.0030655265	0.00051	T	.	.	.	0.133	0.36157	.	.	0.518367700685	0.51479	0.07737123511278876	0.07673	0.0302674356844	0.03124	0.186848372221	0.00174	T	0.002289	0.01691	T	-0.773891	0.00012	T	-0.871444	0.00729	T	0.00989484897915771	0.00131	T	0.49875	0.15541	T	0.018179145	0.00339	0.032835964	0.02081	0.018179145	0.00339	0.032835964	0.02081	3.373	0.00015	T	.	.	0.058	0.00681	B	.;.	.;.	-1.019660	0.00744	0.023	0.10720797962567311	0.00142	0.00179	0.01050	N	AEFI	0.027754	0.02325	N	-1.93573085958009	0.00290	0.01242622	-1.73193631102863	0.01003	0.04495927	2.71263241862682E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.19	2.12	0.26372	0.570000	0.23357	-4.298000	0.02231	-0.647000	0.04405	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.449:0.0:0.551:0.0	8.016	0.29539	254	0.90023	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010070	0.025253	0.009511	0.005848	0.000000	0.000000	0.012195	0.000000	0.05	673.43	42	chr11	58403321	.	G	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.192;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=0.223;SOR=0.687	GT:AD:DP:GQ:PL	0/1:37,32:69:99:685,0,842	9	0	1	0
chr11	58579366	58579366	C	T	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C85T:p.P29S,ZFP91:NM_053023:exon1:c.C85T:p.P29S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0801902562118	.	.	0.0009	0	0	0	.	0	0	0.0012	3.23e-05	5	154602	rs779382392	3.73e-05	4.925e-05	1.177e-05	6.354e-05	0.0007	2.869e-05	2.59e-05	0.0005	0.0005	0	0	0	0	0	0	0	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.476	0.12037	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.00162	N	5.825700	0.999883	0.19853	N	0	0.06538	N	3.09	0.08371	T	-0.05	0.07736	N	0.217	0.24260	-0.9809	0.34794	T	0.015	0.05994	T	10	0.019084483	0.00422	T	0.08019	0.73405	D	0.065	0.18881	0.076	0.00544	0.043077524339	0.03247	0.18738349876981972	0.18656	0.217568787916	0.24277	0.836905419827	0.87621	D	0.044888	0.26955	T	-0.58295	0.00185	T	-0.693176	0.06207	T	0.139485094801999	0.16230	T	0.541246	0.18358	T	0.11964217	0.28167	0.15044881	0.35482	0.11964217	0.28167	0.15044881	0.35481	-5.231	0.39255	T	.	.	0.090	0.12418	B	.	.	1.624182	0.20745	14.89	0.98970857419782854	0.49520	0.36992	0.25660	N	AEFDGBHCI	0.059117	0.11140	N	-0.675706012313155	0.16715	0.8540628	-0.559142945571454	0.20563	1.108455	0.999999752783007	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	2.64	1.7	0.23359	0.863000	0.27567	-0.091000	0.12058	-0.480000	0.05071	0.189000	0.24175	0.003000	0.18671	0.243000	0.23080	0.0:0.8255:0.0:0.1745	5.169	0.14429	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	166.43	29	chr11	58579366	.	C	T	166.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.334;DP=199;ExcessHet=0;FS=6.455;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.49;ReadPosRankSum=0.732;SOR=2.245	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,246	9	0	1	0
chr11	58579556	58579556	C	G	exonic	ZFP91	.	nonsynonymous SNV	ZFP91:NM_001197051:exon1:c.C275G:p.P92R,ZFP91:NM_053023:exon1:c.C275G:p.P92R	.	414	1091	17	0	0	17	0.00773079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0048	0.00399361	0.0148	0.0012	0.0014	0	0.0847	0.0146	0.0310	0.0162	0.0091913	1421	154602	rs200108858	0.0100	0.0100	0.0099	0.0102	0.0140	0.0099	0.0098	0.0133	0.0131	0.0008	0.0017	0.0002	8.498e-05	0.0475	0.0049	0.0092	0.0086	0.0140	0.0091	0.0091	0.0072	0.0110	0.0141	0.0087	0.0085	0.0114	0.0104	0.0013	0.0022	0.0037	0	0.0002	0.0543	0	0.0091	0.0033	0.0141	0.003	0.68238	D	0.007	0.69154	D	0.013	0.16609	B	0.001	0.04355	B	0.000000	0.00162	N	15.234600	0.999218	0.21497	N	0	0.06538	N	3.0	0.09167	T	-0.75	0.21003	N	0.047	0.01911	-0.9860	0.33590	T	0.011	0.04134	T	10	0.0023399293	0.00034	T	.	.	.	0.069	0.20116	.	.	.	.	0.058964305836718	0.05837	0.298534013486	0.32233	0.710501134396	0.68666	T	0.068161	0.33387	T	-0.606313	0.00133	T	-0.632026	0.10262	T	0.0536316216313738	0.06127	T	0.70113	0.31087	T	0.300261	0.52928	0.34986305	0.60604	0.300261	0.52928	0.34986305	0.60604	-4.406	0.29638	T	.	.	0.141	0.31074	B	.	.	1.707634	0.21744	15.33	0.98572303355656599	0.43128	0.36916	0.25643	N	AEFGBHCIJ	0.045923	0.07565	N	-0.727865100058319	0.15241	0.7663986	-0.645672969450533	0.18326	0.9784742	0.99999999999951	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	3.76	1.73	0.23565	0.576000	0.23446	2.204000	0.31312	0.465000	0.21702	0.000000	0.06391	0.010000	0.20010	0.754000	0.35928	0.4005:0.5995:0.0:0.0	8.740	0.33713	622	0.65860	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004663	0.000000	0.000000	0.000000	0.100000	0.000000	0.009146	0.018939	0.05	950.43	36	chr11	58579556	.	C	G	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.29;DP=379;ExcessHet=0;FS=5.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.4;ReadPosRankSum=0.579;SOR=0.438	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1024	9	0	1	0
chr11	58624310	58624310	G	A	exonic	CNTF	.	nonsynonymous SNV	CNTF:NM_000614:exon2:c.G391A:p.E131K	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0156769220911	.	0.000399361	0.0003	0	8.658e-05	0	0	0.0001	0	0.0019	0.0002846	44	154602	rs202082223	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	2.987e-05	0.0001	3.826e-05	0	5.616e-05	0.0040	9.982e-05	0.0003	0.0017	0.0001	0.0001	0.0001	0.0001	0.0019	7.591e-05	6.293e-05	0.0010	0.0007	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0019	0.072	0.34982	T	0.225	0.25514	T	0.872	0.47902	P	0.556	0.49411	P	.	.	.	.	0.915232	0.27418	N	2.4	0.69460	M	1.25	0.36512	T	-1.6	0.38540	N	0.17	0.18103	-0.9621	0.38781	T	0.125	0.43049	T	9	0.019503176	0.00436	T	0.015677	0.36546	T	0.102	0.29158	.	.	0.696112660581	0.69349	0.27168748576247176	0.27081	0.168020938621	0.18945	0.434865087271	0.29874	T	0.251565	0.62184	T	-0.422948	0.01638	T	-0.387575	0.34836	T	0.0783024345760878	0.09768	T	0.835616	0.50622	T	0.38231814	0.59484	0.3192124	0.57884	0.38231814	0.59484	0.3192124	0.57883	-4.388	0.29394	T	.	.	0.144	0.31733	B	.	.	3.809875	0.54942	23.5	0.9987914352735181	0.95572	0.74187	0.36288	D	AEFBCI	0.102726	0.20599	N	0.397614660401001	0.61293	4.328381	0.418474032510477	0.62716	4.491794	0.999967803469381	0.48965	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.48	5.48	0.80675	2.142000	0.41802	8.694000	0.78086	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.918000	0.45347	0.0893:0.0:0.9107:0.0	10.380	0.43287	635	0.64580	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004663	0.000000	0.006793	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	2382.43	33	chr11	58624310	.	G	A	2382.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.08;DP=485;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-0.151;SOR=0.984	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1393	9	0	1	0
chr11	59212195	59212195	G	A	exonic	MPEG1	.	nonsynonymous SNV	MPEG1:NM_001039396:exon1:c.C671T:p.S224F	.	432	1067	23	0	0	23	0.010663	.	.	.	2816654	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.581	0.109063054341	0.0005	0.00159744	0.0014	0.0001	0.0007	0.0001	0	0.0006	0.0056	0.0068	0.0012031	186	154602	rs199564440	0.0008	0.0008	0.0005	0.0010	0.0118	0.0007	0.0007	0.0095	0.0087	0.0001	0.0004	0	0	0	0.0118	0.0003	0.0012	0.0074	0.0005	0.0005	0.0003	0.0006	0.0056	0.0004	0.0003	0.0040	0.0034	7.215e-05	0	0.0010	0	0.0004	0	0.0068	0.0003	0.0009	0.0056	0.002	0.72154	D	0.008	0.67890	D	0.997	0.70673	D	0.924	0.65913	D	0.000919	0.41128	D	0.209762	0.992239	0.41590	D	3.025	0.86340	M	-2.02	0.85542	D	-4.77	0.80425	D	0.307	0.34659	0.592	0.91798	D	0.722	0.90481	D	10	0.00936386	0.00211	T	0.109063	0.78587	D	0.581	0.83137	.	.	0.526842377483	0.52331	0.7044099644671507	0.70382	0.435791415156	0.43679	0.440109074116	0.30591	T	0.173415	0.52228	T	-0.215622	0.18594	T	-0.0780778	0.65045	T	0.110150559866975	0.13439	T	0.816918	0.47330	T	0.69930744	0.78018	0.5693405	0.75065	0.69930744	0.78020	0.5693405	0.75066	-7.736	0.59257	D	.	.	0.187	0.40295	B	.	.	4.098738	0.61106	24.3	0.99752504692820532	0.84382	0.89856	0.50597	D	AEFDGBCI	0.855345	0.77245	D	0.55146161098157	0.70172	5.462542	0.450143075056292	0.64725	4.734498	0.999999999403566	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	5.908000	0.69653	11.798000	0.96570	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.0:1.0:0.0	15.741	0.77655	559	0.71409	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009063	0.000000	0.006793	0.026316	0.000000	0.017241	0.006098	0.003788	0.1	3444.14	129	chr11	59212195	.	G	A	3444.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.419;DP=554;ExcessHet=0.2348;FS=2.193;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=0.306;SOR=0.851	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	8	0	2	0
chr11	59422188	59422188	C	A	exonic	OR5A2	.	stopgain	OR5A2:NM_001001954:exon1:c.G766T:p.G256X	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs559985281	0.0002	0.0002	0.0001	0.0002	0.0036	0.0002	0.0002	0.0024	0.0020	0	0	0	0	0	0.0036	9.622e-05	0.0003	0.0014	5.91e-05	5.906e-05	5.139e-05	6.715e-05	0.0006	3.075e-05	2.209e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	5.88e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	0.003128	0.35389	U	0.000000	0.999995	0.58761	D	.	.	.	.	.	.	.	.	.	0.011	0.00110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0676132	0.60556	T	0.288967	0.87607	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.485643	0.96565	36	0.99048693141238853	0.51207	0.06789	0.12812	N	AEFGI	0.055141	0.10087	N	0.398573761306081	0.61344	4.334304	0.106522215291718	0.44881	2.761	0.00106334014151025	0.08183	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.56	3.68	0.41359	-1.606000	0.02175	-3.494000	0.02744	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.0:0.7317:0.0:0.2683	7.429	0.26288	265	0.89590	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2449.43	39	chr11	59422188	.	C	A	2449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=559;ExcessHet=0;FS=0.522;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.312;SOR=0.663	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1070	9	0	1	0
chr11	59806355	59806355	G	A	exonic	MRPL16	.	nonsynonymous SNV	MRPL16:NM_017840:exon4:c.C748T:p.R250C	.	427	1087	8	0	0	8	0.00366636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.098361728498	0.0015	0.000199681	0.0014	0.0005	8.639e-05	0	0.0006	0.0021	0.0033	0.0012	0.0012613	195	154602	rs144762155	0.0011	0.0011	0.0011	0.0011	0.0013	0.0011	0.0011	0.0012	0.0012	0.0001	0.0002	0	0	0.0008	0.0002	0.0013	0.0008	0.0012	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0010	0.0009	0.0002	0	0.0004	0	0	0.0006	0	0.0012	0.0005	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.922	0.65739	D	0.000000	0.84330	D	0.050707	1	0.81001	D	2.95	0.84923	M	1.6	0.28604	T	-2.45	0.53577	N	0.857	0.85343	-0.7517	0.57846	T	0.179	0.52489	T	10	0.2001785	0.36055	T	0.098362	0.76928	D	0.297	0.61730	.	.	0.585564602418	0.58230	0.8236989340090101	0.82326	0.634110956647	0.57278	0.606295228004	0.53793	T	0.127587	0.45471	T	-0.138637	0.30107	T	0.00906656	0.70922	D	0.0721522569277987	0.08950	T	0.645335	0.25688	T	0.7853894	0.82987	0.30880463	0.56897	0.7853894	0.82988	0.30880463	0.56896	-6.351	0.49125	T	.	.	0.475	0.63419	A	.	.	4.790765	0.77749	26.8	0.99899529971495427	0.97199	0.95610	0.65411	D	AEFDBCI	0.480885	0.52241	N	0.459072963831854	0.64719	4.732942	0.374184910679275	0.59978	4.180508	0.999677849706317	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	5.15	0.70287	3.508000	0.53135	6.708000	0.56392	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.541000	0.29961	0.0:0.0:0.7256:0.2744	14.008	0.63994	799	0.44747	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1571.43	33	chr11	59806355	.	G	A	1571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.886;SOR=0.714	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1203	9	0	1	0
chr11	59854659	59854659	T	C	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon7:c.A1114G:p.I372V	.	431	1090	1	0	0	1	0.000458505	.	.	.	1156724	Transcobalamin_I_deficiency|TCN1-related_disorder	MONDO:MONDO:0008659,MedGen:C0342700,OMIM:193090,Orphanet:2967|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	.	7.7e-05	0.00259585	0.0018	9.61e-05	8.655e-05	0.0002	0	4.497e-05	0.0022	0.0124	0.0015459	239	154602	rs367928670	0.0007	0.0007	0.0005	0.0010	0.0107	0.0007	0.0007	0.0102	0.0099	2.988e-05	0	0	5.04e-05	0	0.0005	6.566e-05	0.0010	0.0107	0.0003	0.0003	0.0001	0.0005	0.0097	0.0003	0.0002	0.0075	0.0067	7.216e-05	0	0	0	0	0	0	0	0	0.0097	1.0	0.00964	T	0.927	0.02804	T	0.0	0.02946	B	0.0	0.01387	B	0.343241	0.04200	N	1.521430	1	0.08975	N	0.22	0.09567	N	1.58	0.29085	T	0.08	0.06026	N	0.133	0.12913	-1.0803	0.07291	T	0.050	0.21182	T	10	0.013712496	0.00290	T	.	.	.	0.028	0.06331	.	.	0.0762999501168	0.06990	0.14673444843275024	0.14595	0.0153553775049	0.01465	0.271165788174	0.06294	T	0.016089	0.13370	T	-0.739658	0.00021	T	-0.824856	0.01357	T	0.0163169809208122	0.00402	T	0.266673	0.04389	T	0.04317561	0.06682	0.031243457	0.01687	0.04317561	0.06682	0.031243457	0.01687	-3.313	0.13906	T	.	.	0.066	0.02091	B	.	.	-2.361916	0.00044	0.001	0.1792928880162373	0.00543	0.00286	0.01538	N	AEFBI	0.021688	0.00994	N	-1.7987968915227	0.00548	0.02359869	-1.97483081129346	0.00346	0.01527598	0.999999999672323	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.06	-10.1	0.00330	-5.958000	0.00107	-6.391000	0.01411	-0.728000	0.03745	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0751:0.4101:0.3297:0.1851	6.082	0.19168	783	0.47268	Domain of unknown function DUF4430	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	913.43	37	chr11	59854659	.	T	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.861;DP=412;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.604;SOR=0.545	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	9	0	1	0
chr11	59861593	59861593	C	T	exonic	TCN1	.	nonsynonymous SNV	TCN1:NM_001062:exon4:c.G490A:p.A164T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00200100236893	.	0.000399361	6.59e-05	9.61e-05	0	0.0001	0	7.493e-05	0	6.056e-05	7.12e-05	11	154602	rs77116206	3.147e-05	3.147e-05	2.45e-05	3.85e-05	0.0002	2.412e-05	2.158e-05	2.995e-05	2.038e-05	5.974e-05	4.472e-05	0	2.52e-05	3.744e-05	0.0002	2.698e-05	3.312e-05	6.956e-05	5.912e-05	5.906e-05	7.712e-05	4.03e-05	8.821e-05	3.076e-05	2.209e-05	3.762e-05	2.575e-05	2.408e-05	0	6.536e-05	0	0	9.429e-05	0	8.821e-05	0	0	0.809	0.03044	T	0.655	0.06621	T	0.001	0.07471	B	0.001	0.04355	B	0.336276	0.04160	N	1.470240	1	0.08975	N	-1.115	0.00953	N	1.32	0.35219	T	-0.2	0.10136	N	0.058	0.02964	-1.0399	0.17343	T	0.024	0.10058	T	10	0.027322263	0.00880	T	0.002001	0.03615	T	0.080	0.23350	.	.	0.128392430309	0.12331	0.06623236863472835	0.06562	0.015659296278	0.01497	0.322677075863	0.13826	T	0.010645	0.09594	T	-0.557212	0.00264	T	-0.856645	0.00880	T	0.0341730825603008	0.02667	T	0.347765	0.07665	T	0.05061911	0.09171	0.042971984	0.05241	0.05061911	0.09171	0.042971984	0.05241	-3.276	0.13429	T	.	.	0.065	0.02038	B	.	.	-1.119676	0.00617	0.016	0.23262274505006184	0.00975	0.00252	0.01388	N	AEFBI	0.018053	0.00518	N	-2.07153816109259	0.00148	0.006328727	-2.08421172795135	0.00202	0.008880346	0.999271559193719	0.38974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.633917	0.49826	0	.	.	5.12	-8.08	0.00965	-1.512000	0.02362	-3.215000	0.02964	-1.894000	0.00530	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2916:0.245:0.2362:0.2272	0.213	0.00147	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	976.43	45	chr11	59861593	.	C	T	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.073;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.514;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	9	0	1	0
chr11	60936008	60936008	G	A	exonic	TMEM132A	.	nonsynonymous SNV	TMEM132A:NM_017870:exon11:c.G2176A:p.G726R,TMEM132A:NM_178031:exon11:c.G2173A:p.G725R	.	296	1219	6	1	0	8	0.00327065	.	.	.	2732979	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.0111736579649	7.7e-05	.	8.772e-05	0	0	0	0	7.983e-05	0.0012	0.0003	6.47e-05	10	154602	rs376877652	6.458e-05	6.567e-05	5.332e-05	7.595e-05	0.0012	5.384e-05	4.997e-05	0.0005	0.0003	2.997e-05	4.489e-05	0	0	0	0.0012	4.23e-05	0.0001	0.0004	5.91e-05	5.906e-05	3.855e-05	8.058e-05	0.0006	3.076e-05	2.209e-05	0.0002	8.996e-05	0	0	0	0	0	0	0.0034	7.351e-05	0	0.0006	0.07	0.35537	T	0.265	0.22761	T	0.007	0.15093	B	0.005	0.12133	B	0.021086	0.26903	N	0.310848	0.99993	0.19486	N	1.265	0.31966	L	2.59	0.26737	T	-0.46	0.14978	N	0.272	0.31478	-1.0361	0.18513	T	0.032	0.13942	T	10	0.050164193	0.04709	T	0.011174	0.28518	T	0.090	0.26093	0.456	0.52102	0.239305524855	0.23518	0.6592900376232924	0.65866	0.321246349146	0.34324	0.574830472469	0.49358	T	0.045112	0.27022	T	-0.353819	0.04492	T	-0.416011	0.31534	T	0.020498825237155	0.00750	T	0.746025	0.37907	T	0.06755542	0.14640	0.07307485	0.15839	0.06755542	0.14640	0.07307485	0.15838	-0.537	0.00606	T	.	.	0.114	0.24733	B	.;.;.	.;.;.	1.471354	0.18953	14.01	0.97500048430935593	0.34288	0.18746	0.20385	N	AEFDGBHCI	0.116644	0.22885	N	-0.619530819490481	0.18358	0.9524622	-0.529630515973079	0.21350	1.154533	0.999910410262142	0.45857	0.706298	0.61202	0	0.694456	0.67091	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.82	2.94	0.33188	0.216000	0.17370	1.222000	0.24983	0.672000	0.70159	0.007000	0.17678	0.666000	0.26041	0.634000	0.32262	0.0892:0.1645:0.5763:0.17	3.784	0.08210	595	0.68488	Transmembrane protein family 132, middle domain;.;Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	777.43	34	chr11	60936008	.	G	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=367;ExcessHet=0;FS=1.004;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.609;SOR=0.846	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr11	61006595	61006595	C	G	exonic	CD6	.	nonsynonymous SNV	CD6:NM_001254750:exon2:c.C71G:p.P24R,CD6:NM_001254751:exon2:c.C71G:p.P24R,CD6:NM_006725:exon2:c.C71G:p.P24R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0145307976671	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1214557753	3.43e-06	3.42e-06	1.364e-06	5.522e-06	0.0005	1.01e-06	7.3e-07	0.0001	7.55e-05	0	0	0	0	0	0.0005	9.007e-07	0	1.179e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.63226	T	0.47	0.13365	T	0.808	0.47319	P	0.299	0.41603	B	0.358769	0.13702	N	0.547984	1	0.08975	N	-0.345	0.03330	N	4.91	0.01430	T	-1.38	0.34795	N	0.194	0.22870	-0.7852	0.56007	T	0.003	0.00897	T	10	0.06674245	0.09198	T	0.014531	0.34707	T	0.042	0.11227	0.222	0.14518	0.407082143382	0.40323	0.2734572702565238	0.27258	1.04221563475	0.75838	0.284462064505	0.08123	T	0.007536	0.16749	T	-0.158117	0.27050	T	-0.4649	0.26067	T	0.163642745018176	0.18137	T	0.667533	0.27667	T	0.05406819	0.10323	0.17061506	0.39184	0.05406819	0.10323	0.17061506	0.39183	-4.758	0.34098	T	.	.	0.084	0.13409	B	.;.;.;.;.	.;.;.;.;.	1.376338	0.17874	13.42	0.7234419688374194	0.09940	0.11741	0.16832	N	AEFDBI	0.061015	0.11636	N	-0.776418063862599	0.13925	0.6896988	-0.804744118477226	0.14382	0.7511065	0.999305684534294	0.39077	0.0	0.00013	3	0.0	0.00010	3	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.94	3.03	0.34070	1.063000	0.30177	3.887000	0.40272	0.599000	0.40250	0.001000	0.13787	0.176000	0.23382	0.012000	0.09680	0.0:0.8966:0.0:0.1034	9.480	0.38058	531	0.73574	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	691.43	34	chr11	61006595	.	C	G	691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.825;DP=384;ExcessHet=0;FS=2.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.75;SOR=0.39	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1156	9	0	1	0
chr11	61119455	61119455	G	A	exonic	CD5	.	nonsynonymous SNV	CD5:NM_001346456:exon5:c.G514A:p.E172K,CD5:NM_014207:exon5:c.G685A:p.E229K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00208720662326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.12032	T	0.906	0.02996	T	0.001	0.07471	B	0.001	0.04355	B	0.692391	0.10164	N	0.813776	1	0.08975	N	0	0.06538	N	4.77	0.01563	T	-0.09	0.08340	N	0.052	0.02366	-0.9366	0.43149	T	0.003	0.00864	T	10	0.080026805	0.12942	T	0.002087	0.03855	T	0.054	0.15330	0.449	0.50957	0.396494342077	0.39262	0.3447648434744287	0.34389	0.324318538032	0.34596	0.298914134502	0.10239	T	0.061545	0.31683	T	-0.372619	0.03463	T	-0.773018	0.02670	T	0.0428183637559414	0.04205	T	0.487551	0.14930	T	0.044888426	0.07252	0.0526178	0.08704	0.044888426	0.07252	0.0526178	0.08703	-4.088	0.25113	T	.	.	0.074	0.05274	B	.	.	0.209212	0.05930	2.370	0.14742925831892073	0.00336	0.02760	0.07451	N	AEFDBI	.	.	.	-1.0620198165826	0.07353	0.3413227	-0.984900777192506	0.10124	0.5079197	0.888662678100064	0.25794	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.28	3.35	0.37468	0.170000	0.16476	0.170000	0.15507	-0.127000	0.13314	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	0.1239:0.0:0.8761:0.0	7.095	0.24483	302	0.87871	SRCR domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2014.43	35	chr11	61119455	.	G	A	2014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.052;DP=473;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=1.17;SOR=0.626	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1225	9	0	1	0
chr11	61258794	61258794	C	T	exonic	VWCE	.	nonsynonymous SNV	VWCE:NM_152718:exon20:c.G2749A:p.G917R	.	413	1085	22	2	0	26	0.0118397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0213806881925	0.0023	0.000798722	0.0021	0.0007	0.0009	0	0.0014	0.0021	0.0051	0.0076	0.0018823	291	154602	rs142539738	0.0021	0.0020	0.0019	0.0022	0.0082	0.0020	0.0020	0.0077	0.0074	0.0003	0.0015	5.155e-05	2.637e-05	0.0010	0.0076	0.0019	0.0020	0.0082	0.0017	0.0017	0.0015	0.0020	0.0075	0.0015	0.0015	0.0056	0.0049	0.0005	0	0.0039	0	0	0.0010	0	0.0019	0.0024	0.0075	1.0	0.00964	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.244416	0.15642	N	0.529823	1	0.08975	N	-1.04	0.01097	N	0.11	0.61208	T	0.15	0.07736	N	0.062	0.06190	-0.9956	0.31136	T	0.043	0.18326	T	10	0.0057477653	0.00128	T	0.021381	0.44139	T	0.027	0.05988	0.185	0.09388	0.0138822411134	0.00435	0.10397906329037991	0.10327	0.242934635108	0.26798	0.276284873486	0.06980	T	0.007926	0.11716	T	-0.543212	0.00320	T	-0.548076	0.17511	T	0.000437647545597456	0.00003	T	0.528347	0.21082	T	0.03351433	0.03585	0.044080954	0.05631	0.028741755	0.02257	0.032279015	0.01938	-4.528	0.31253	T	.	.	0.087	0.11220	B	.;.;.	.;.;.	-0.737363	0.01236	0.063	0.27469530425493982	0.01365	0.00244	0.01352	N	AEFDBI	0.024243	0.01470	N	-1.87386442473662	0.00388	0.01669312	-1.82512283341602	0.00682	0.03034974	0.207515988317215	0.18199	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.81	-2.62	0.05793	-0.304000	0.08238	-0.777000	0.07471	-1.675000	0.00794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1691:0.2695:0.5614	5.514	0.16188	546	0.72524	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.004049	0.010101	0.000000	0.002941	0.000000	0.000000	0.003106	0.015267	0.05	762.43	42	chr11	61258794	.	C	T	762.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.196;DP=401;ExcessHet=0;FS=0.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.892;SOR=0.604	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1136	9	0	1	0
chr11	61429820	61429820	G	C	exonic	CPSF7	.	nonsynonymous SNV	CPSF7:NM_024811:exon1:c.C11G:p.P4R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.517106838397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.21	0.29968	B	0.068	0.27651	B	.	.	.	.	0.999998	0.58761	D	.	.	.	.	.	.	-0.02	0.07299	N	0.127	0.12055	-0.8941	0.48567	T	0.140	0.45847	T	7	0.14093202	0.26783	T	0.517107	0.95390	D	0.051	0.14325	0.22	0.14224	0.110392049598	0.10638	0.4174082070352745	0.41656	0.805347081922	0.66429	0.82470703125	0.85751	D	.	.	.	-0.0864779	0.38654	T	-0.361996	0.37820	T	0.496525049209595	0.32503	T	0.327667	0.06803	T	.	.	.	.	.	.	.	.	-2.145	0.03782	T	.	.	0.076	0.05845	B	.	.	1.235378	0.16305	12.45	0.98340308539117038	0.40438	0.00442	0.02154	N	ALL	0.048786	0.08360	N	-0.470683958180821	0.23045	1.234779	-0.479797326298758	0.22711	1.234909	0.999999998969833	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	3.44	2.49	0.29274	-0.323000	0.08039	0.024000	0.13633	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.952000	0.50033	0.0:0.2539:0.7461:0.0	8.495	0.32284	779	0.47767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	633.43	37	chr11	61429820	.	G	C	633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.047;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.513;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,956	9	0	1	0
chr11	61481918	61481918	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon2:c.G109A:p.G37S,PPP1R32:NM_145017:exon2:c.G109A:p.G37S	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	.	7.7e-05	.	6.934e-05	0.0001	9.161e-05	0	0	3.135e-05	0.0012	0.0002	5.82e-05	9	154602	rs137981780	3.438e-05	3.968e-05	3.213e-05	3.664e-05	0.0004	2.632e-05	2.371e-05	6.21e-05	3.556e-05	6.357e-05	2.86e-05	0	0	0	0.0004	3.192e-05	1.697e-05	9.871e-05	3.285e-05	3.283e-05	3.853e-05	2.69e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.079	0.33923	T	0.237	0.24621	T	0.99	0.73220	D	0.484	0.54900	P	0.000732	0.42129	D	0.103999	1	0.81001	D	1.445	0.36358	L	0.58	0.54149	T	-4.09	0.74821	D	0.483	0.51761	-0.9598	0.39218	T	0.152	0.48135	T	9	0.30479673	0.48002	T	0.014986	0.35458	T	0.212	0.50341	.	.	0.714579403	0.71207	0.4076322873801166	0.40679	0.485752848142	0.47451	0.436284214258	0.30069	T	0.031295	0.21975	T	-0.253082	0.13724	T	-0.385976	0.35022	T	0.83999091386795	0.49326	D	0.768523	0.39806	T	0.18369374	0.39649	0.25850424	0.51584	0.18369374	0.39649	0.25850424	0.51583	-5.07	0.40630	T	.	.	0.210	0.43775	B	.;.	.;.	5.501360	0.91587	32	0.99785354493867184	0.87131	0.81215	0.40666	D	AEFDBI	0.358678	0.44927	N	0.355664694352723	0.59040	4.080216	0.360894724504483	0.59165	4.092295	0.999837742457985	0.43792	0.549168	0.22868	0	0.588066	0.40923	0	0.467745	0.07146	0	0.616125	0.45549	0	.	.	4.89	3.85	0.43556	2.765000	0.47304	6.535000	0.55868	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.674000	0.33367	0.1585:0.0:0.8415:0.0	7.874	0.28747	722	0.55239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1554.43	36	chr11	61481918	.	G	A	1554.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.021;DP=503;ExcessHet=0;FS=3.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.346;SOR=0.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1043:.	9	0	1	0
chr11	61482774	61482774	G	A	exonic	PPP1R32	.	nonsynonymous SNV	PPP1R32:NM_001170753:exon4:c.G347A:p.R116Q,PPP1R32:NM_145017:exon4:c.G347A:p.R116Q	.	418	1053	47	4	0	55	0.0254512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0052	0.00319489	0.0082	0.0028	0.0042	0	0.0043	0.0102	0.0119	0.0114	0.0073673	1139	154602	rs140046775	0.0074	0.0074	0.0071	0.0078	0.0127	0.0073	0.0073	0.0119	0.0116	0.0033	0.0043	0.0025	0	0.0046	0.0127	0.0078	0.0071	0.0125	0.0063	0.0063	0.0064	0.0062	0.0114	0.0060	0.0058	0.0090	0.0081	0.0033	0.0164	0.0046	0.0035	0.0002	0.0048	0.0238	0.0087	0.0090	0.0114	0.041	0.42487	D	0.072	0.43344	T	0.454	0.36182	P	0.071	0.27960	B	0.018228	0.27531	N	0.249758	0.790906	0.34385	D	2.035	0.55589	M	0.8	0.48769	T	-2.27	0.50666	N	0.24	0.27077	-0.9881	0.33077	T	0.085	0.33185	T	10	0.0055578053	0.00123	T	.	.	.	0.098	0.28162	.	.	0.400756358115	0.39691	0.2824901324341105	0.28162	0.173007313036	0.19485	0.270249664783	0.06173	T	0.014843	0.12562	T	-0.447336	0.01171	T	-0.404956	0.32807	T	0.0144965262439168	0.00295	T	0.70443	0.31478	T	0.050360326	0.09085	0.0727772	0.15741	0.050360326	0.09084	0.0727772	0.15740	-3.792	0.20685	T	.	.	0.078	0.06756	B	.;.	.;.	1.455047	0.18768	13.91	0.9974269381755424	0.83629	0.19156	0.20550	N	AEFDGBHCI	0.132172	0.25138	N	-0.362726907490392	0.26808	1.465919	-0.395163743188018	0.25140	1.380801	0.99999999999439	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.298653	0.05632	1	0.691587	0.68394	0	.	.	5.06	4.15	0.47978	0.448000	0.21443	-0.747000	0.07594	0.586000	0.30580	0.103000	0.22855	0.000000	0.08366	0.141000	0.19983	0.0919:0.0:0.9081:0.0	10.523	0.44121	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008577	0.005051	0.010899	0.008824	0.000000	0.008621	0.012270	0.003788	0.1	1596.12	36	chr11	61482774	.	G	A	1596.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.3;SOR=1.201	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	9	1	0	0
chr11	61518675	61518675	A	C	exonic	SYT7	.	nonsynonymous SNV	SYT7:NM_004200:exon9:c.T1164G:p.I388M,SYT7:NM_001252065:exon10:c.T1389G:p.I463M,SYT7:NM_001300773:exon10:c.T1296G:p.I432M,SYT7:NM_001365809:exon13:c.T2013G:p.I671M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0330276916687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.12	0.35970	T	0.016	0.17332	B	0.016	0.17743	B	0.005877	0.32444	N	0.258372	0.999401	0.46935	D	0.32	0.10341	N	-0.66	0.72348	T	-1.11	0.29114	N	0.123	0.25253	-1.0471	0.15217	T	0.147	0.47165	T	10	0.1027568	0.18852	T	0.033028	0.54691	D	0.106	0.30130	0.604	0.73586	0.423782897388	0.41995	0.5382081207074136	0.53745	0.91076110568	0.71049	0.708953380585	0.68442	T	0.126289	0.45257	T	-0.147257	0.28742	T	-0.449301	0.27773	T	0.1329281533593	0.15651	T	0.912209	0.68770	D	0.15276909	0.34663	0.12166543	0.29353	0.15276909	0.34662	0.12166543	0.29353	-3.502	0.22273	T	.	.	0.127	0.35849	B	.;.;.;.;.;.	.;.;.;.;.;.	0.974684	0.13517	10.04	0.98964039431069628	0.49383	0.18818	0.20415	N	AEFDGBI	0.305989	0.41326	N	-1.10147112712627	0.06617	0.3051266	-1.05603602164149	0.08582	0.4226283	0.996159309052451	0.34559	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.82	-2.79	0.05494	-1.266000	0.02950	-1.973000	0.04409	-0.135000	0.12811	0.002000	0.15269	0.000000	0.08366	0.993000	0.69303	0.2563:0.0:0.7437:0.0	12.709	0.56447	728	0.54609	C2 domain|Synaptotagmin 7, C2B domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	628.43	33	chr11	61518675	.	A	C	628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.168;DP=392;ExcessHet=0;FS=2.062;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.359;SOR=1.068	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,103,1109	9	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	1996.68	82	chr11	61740527	.	G	C	1996.68	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.572;DP=871;ExcessHet=4.5998;FS=250.847;InbreedingCoeff=-0.5345;MLEAC=7;MLEAF=0.438;MQ=59.99;MQRankSum=0;QD=3.38;ReadPosRankSum=2.09;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:93:.:.:0,93,1411:.	2	0	6	2
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:70,43:113:99:.:.:412,0,1143:.	0	0	10	0
chr11	61898324	61898324	T	C	exonic	RAB3IL1	.	nonsynonymous SNV	RAB3IL1:NM_001271686:exon9:c.A1025G:p.K342R,RAB3IL1:NM_013401:exon10:c.A1103G:p.K368R	.	424	1078	20	0	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0039208026233	.	0.00139776	0.0013	0	0.0003	0	0	0.0004	0.0022	0.0075	0.0010737	166	154602	rs150700132	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0005	0.0064	0.0062	8.961e-05	0.0004	0.0020	0	0	0.0029	0.0001	0.0008	0.0069	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.405e-05	0	0.0007	0.0014	0.0004	0	0.0034	0.0001	0	0.0044	0.158	0.91255	T	0.392	0.92824	T	0.005	0.21116	B	0.003	0.24832	B	0.000043	0.53742	N	0.121890	0.947939	0.37589	D	0.525	0.13617	N	1.45	0.32482	T	-1.5	0.36586	N	0.073	0.06190	-1.0799	0.07368	T	0.045	0.19234	T	10	0.009456545	0.00213	T	0.003921	0.09242	T	0.041	0.10877	0.379	0.39482	0.462287137294	0.45856	0.4396331280742285	0.43880	0.0747485147847	0.08389	0.607589244843	0.53975	T	0.041027	0.25721	T	-0.512453	0.00486	T	-0.505294	0.21799	T	0.0271312275529768	0.01563	T	0.832417	0.51943	T	0.07920888	0.18082	0.09345982	0.22075	0.07920888	0.18081	0.09345982	0.22075	-5.542	0.45495	T	.	.	0.070	0.29311	B	.;.;.	.;.;.	2.405263	0.30907	18.58	0.99606939266614536	0.74575	0.58657	0.30701	D	AEFDGBCI	0.234360	0.35713	N	-0.330949200297805	0.27978	1.53943	-0.171939391558643	0.32573	1.854573	0.999999028030449	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.699908	0.69081	0	.	.	4.71	3.56	0.39892	3.352000	0.51954	4.250000	0.42753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.2622:0.0:0.7378	7.123	0.24630	711	0.56613	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.1	3402.12	41	chr11	61898324	.	T	C	3402.12	.	AC=2;AF=0.1;AN=20;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.84;SOR=0.728	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1315	9	1	0	0
chr11	61958159	61958159	C	T	exonic	BEST1	.	nonsynonymous SNV	BEST1:NM_001363591:exon5:c.C410T:p.A137V,BEST1:NM_001139443:exon6:c.C548T:p.A183V,BEST1:NM_001300786:exon6:c.C548T:p.A183V,BEST1:NM_001300787:exon6:c.C548T:p.A183V,BEST1:NM_001363592:exon7:c.C728T:p.A243V,BEST1:NM_004183:exon7:c.C728T:p.A243V	Bestrophinopathy, autosomal recessive;Macular dystrophy, vitelliform, 2, Autosomal dominant;Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Autosomal dominant;Retinitis pigmentosa, concentric;Retinitis pigmentosa-50;Vitreoretinochoroidopathy, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	17776	Retinal_dystrophy|Vitelliform_macular_dystrophy_2|not_provided|Vitelliform_macular_dystrophy_1|Autosomal_dominant_vitreoretinochoroidopathy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0007931,MedGen:C2745945,OMIM:153700,Orphanet:1243|MedGen:C3661900|MONDO:MONDO:0007933,MedGen:C4551953,OMIM:153840,Orphanet:99000|MONDO:MONDO:0008662,MedGen:C3888099,OMIM:193220,Orphanet:263347,Orphanet:3086	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.939	0.601338176067	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs28940570	6.18e-06	6.163e-06	4.101e-06	8.279e-06	0.0002	2.91e-06	2.11e-06	1.95e-06	1.28e-06	3e-05	0	0	0	0	0.0002	5.418e-06	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	A	2.98	0.85499	M	-5.2	0.98852	D	-3.92	0.73151	D	0.927	0.93135	1.080	0.98878	D	0.976	0.99251	D	9	0.9887816	0.99312	D	0.601338	0.96491	D	0.939	0.98672	0.963	0.99627	0.99396440531	0.99389	0.8087822321045613	0.80833	0.96835728464	0.73271	0.740800857544	0.73090	T	0.934516	0.98920	D	0.528246	0.95140	D	0.521012	0.95068	D	0.9835604429245	0.75184	D	0.988501	0.96026	D	0.68697536	0.77347	0.5292981	0.72803	0.6219698	0.73870	0.56277543	0.74699	-11.112	0.80269	D	0.38101511345385736	0.47545	0.801	0.77310	P	.;.;.	.;.;.	4.471988	0.69692	25.4	0.9987836238871135	0.95491	0.98492	0.83351	D	AEFDBI	0.948661	0.96052	D	0.754451501140545	0.83194	7.954005	0.675786760129567	0.80546	7.322536	0.999999999999997	0.74766	0.516011	0.20929	0	0.588066	0.40923	0	0.577349	0.28860	0	0.613276	0.41899	0	.	.	4.96	4.96	0.65153	7.707000	0.83595	3.745000	0.39664	0.544000	0.25403	1.000000	0.71638	0.999000	0.35428	0.960000	0.51673	0.0:1.0:0.0:0.0	17.821	0.88561	754	0.51307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1595.12	42	chr11	61958159	.	C	T	1595.12	.	AC=2;AF=0.1;AN=20;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.9;SOR=1.519	GT:AD:DP:GQ:PL	1/1:0,50:50:99:1618,150,0	9	1	0	0
chr11	62522304	62522304	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A12113G:p.K4038R,AHNAK:NM_001346446:exon5:c.A12113G:p.K4038R,AHNAK:NM_001620:exon5:c.A12113G:p.K4038R	.	428	1081	13	0	0	13	0.00597701	.	.	.	2816709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	0.0105667742358	0.0004	0.00139776	0.0017	0.0002	0.0017	0	0	0.0006	0.0022	0.0088	0.0015459	239	154602	rs141451542	0.0011	0.0011	0.0008	0.0013	0.0078	0.0010	0.0010	0.0073	0.0071	0.0002	0.0010	0	2.519e-05	1.872e-05	0.0052	0.0007	0.0012	0.0078	0.0005	0.0006	0.0005	0.0006	0.0073	0.0005	0.0004	0.0054	0.0048	9.689e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0073	0.056	0.38185	T	0.009	0.66756	D	0.033	0.20350	B	0.04	0.23831	B	0.000710	0.42254	D	0.155857	1	0.81001	D	2.255	0.64187	M	3.45	0.05311	T	-1.33	0.33197	N	0.204	0.22614	-1.0879	0.05890	T	0.025	0.10509	T	10	0.0066671073	0.00151	T	0.010567	0.27259	T	0.098	0.28162	.	.	0.0666544352282	0.05500	0.04017054820257291	0.03963	0.0251046110797	0.02556	0.26959425211	0.06088	T	0.232998	0.59969	T	-0.605529	0.00135	T	-0.637872	0.09824	T	0.0232876416859672	0.01057	T	0.729427	0.34485	T	0.047471814	0.08121	0.059443366	0.11157	0.047471814	0.08120	0.059443366	0.11156	-8.186	0.62330	D	.	.	0.119	0.24430	B	.	.	1.442932	0.18626	13.84	0.91174288749082821	0.20429	0.79151	0.39168	D	AEFBI	.	.	.	-1.04539440273977	0.07678	0.3575052	-1.1079812973771	0.07547	0.3675084	0.13573514906609	0.17178	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.39	0.513	0.16200	1.278000	0.32784	.	.	-0.353000	0.05553	0.007000	0.17678	0.000000	0.08366	0.006000	0.07323	0.0:0.2389:0.0:0.7611	8.597	0.32885	227	0.91186	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	2660.43	33	chr11	62522304	.	T	C	2660.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.107;DP=661;ExcessHet=0;FS=5.43;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0.81;QD=8.84;ReadPosRankSum=0.192;SOR=0.458	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1189	9	0	1	0
chr11	62523343	62523343	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T11074C:p.S3692P,AHNAK:NM_001346446:exon5:c.T11074C:p.S3692P,AHNAK:NM_001620:exon5:c.T11074C:p.S3692P	.	421	1100	1	0	0	1	0.000454339	.	.	.	3961296	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.0164100229253	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs757953310	8.898e-06	8.893e-06	4.086e-06	1.376e-05	0.0003	4.97e-06	3.83e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	7.196e-06	4.971e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.58089	D	0.979	0.59044	D	0.839	0.60107	P	0.906810	0.08581	N	0.940197	1	0.08975	N	2.83	0.82355	M	4.56	0.01933	T	-2.51	0.54546	D	0.374	0.41557	-1.0280	0.21103	T	0.030	0.12892	T	10	0.27191812	0.44732	T	0.01641	0.37653	T	0.185	0.45933	0.134	0.03833	0.373897652646	0.36997	0.013129249173180205	0.01270	0.211705828522	0.23670	0.348933517933	0.17766	T	0.276943	0.64954	T	-0.103618	0.35826	T	-0.386617	0.34949	T	0.461362903906816	0.31215	T	0.667533	0.27667	T	0.2771566	0.50774	0.29142228	0.55167	0.2771566	0.50774	0.29142228	0.55166	-10.788	0.78482	D	.	.	0.304	0.53293	B	.	.	1.742658	0.22170	15.51	0.94360529945793536	0.24717	0.76688	0.37632	D	AEFBI	.	.	.	-7.52462584216462e-05	0.41853	2.510837	-0.219452678172296	0.30838	1.739877	0.328903048248652	0.19464	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.32	2.89	0.32713	1.395000	0.34129	.	.	0.677000	0.82338	0.885000	0.31090	0.000000	0.08366	0.123000	0.19290	0.5825:0.2821:0.0:0.1354	7.366	0.25948	235	0.90838	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	6390.12	33	chr11	62523343	.	A	G	6390.12	.	AC=2;AF=0.1;AN=20;DP=618;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.77;SOR=1.325	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1189	9	1	0	0
chr11	62523450	62523450	C	T	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.G10967A:p.G3656D,AHNAK:NM_001346446:exon5:c.G10967A:p.G3656D,AHNAK:NM_001620:exon5:c.G10967A:p.G3656D	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	7.7e-05	0.00519169	0.0038	0	0.0005	0.0002	0	0.0003	0	0.0268	0.0033117	512	154602	rs200822616	0.0018	0.0018	0.0009	0.0026	0.0266	0.0017	0.0017	0.0257	0.0253	5.981e-05	0.0004	7.668e-05	7.558e-05	0	0.0035	0.0001	0.0014	0.0266	0.0010	0.0010	0.0006	0.0014	0.0246	0.0009	0.0008	0.0210	0.0196	9.682e-05	0	0.0004	0	0	0	0	0.0003	0	0.0246	0.118	0.28148	T	0.144	0.33109	T	0.208	0.29916	B	0.073	0.28123	B	0.017064	0.27816	N	0.170323	0.990324	0.81001	D	2.755	0.80505	M	2.22	0.18248	T	-3.76	0.71276	D	0.294	0.33250	-0.9613	0.38936	T	0.089	0.34408	T	10	0.005264133	0.00115	T	.	.	.	0.173	0.43840	.	.	0.208000267992	0.20380	0.04275312669271834	0.04220	0.187600955319	0.21079	0.482054769993	0.36340	T	0.606199	0.87451	D	-0.430941	0.01463	T	-0.371521	0.36710	T	0.0980801433571143	0.12145	T	0.972203	0.89922	D	0.21282545	0.43645	0.23096718	0.48215	0.21282545	0.43645	0.23096718	0.48214	-13.105	0.89790	D	.	.	0.625	0.69918	P	.	.	2.162231	0.27548	17.50	0.99527401020061412	0.69653	0.97387	0.74426	D	AEFGBI	.	.	.	0.294638915291946	0.55878	3.751787	0.329668423227677	0.57288	3.894213	0.96818528569145	0.29033	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.16	5.16	0.70563	1.719000	0.37633	.	.	0.539000	0.25131	0.004000	0.16614	0.693000	0.26187	0.779000	0.36868	0.0:0.9183:0.0:0.0817	11.748	0.51102	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.018939	0.05	4067.43	315	chr11	62523450	.	C	T	4067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=878;ExcessHet=0;FS=3.655;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.426;SOR=0.527	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1189	9	0	1	0
chr11	62528229	62528229	G	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C6188G:p.A2063G,AHNAK:NM_001346446:exon5:c.C6188G:p.A2063G,AHNAK:NM_001620:exon5:c.C6188G:p.A2063G	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0118448917026	.	0.000199681	0.0002	9.61e-05	8.637e-05	0	0.0005	0.0003	0	0	7.68e-05	2	26028	rs1298917	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	8.961e-05	2.236e-05	3.826e-05	0	0.0002	0	0.0002	0.0001	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.726e-05	0.0002	0.0001	9.663e-05	0	0.0001	0	0	0.0002	0	0.0003	0	0	0.118	0.28148	T	0.616	0.07543	T	0.0	0.02946	B	0.0	0.01387	B	0.226668	0.03491	N	1.973070	1	0.81001	D	-1.34	0.00672	N	3.44	0.05375	T	-0.03	0.07444	N	0.048	0.01999	-0.9495	0.41058	T	0.010	0.03811	T	10	0.010202795	0.00228	T	0.011845	0.29861	T	0.075	0.21907	.	.	0.246215685461	0.24236	0.0074707861963447105	0.00713	0.0258209435056	0.02637	0.209241390228	0.00779	T	0.043483	0.26515	T	-0.558365	0.00260	T	-0.733852	0.04155	T	0.0208310580289219	0.00783	T	0.50295	0.15803	T	0.016508656	0.00203	0.03706153	0.03281	0.016508656	0.00203	0.03706153	0.03281	-2.351	0.04841	T	.	.	0.059	0.00861	B	.	.	-1.516341	0.00285	0.005	0.91951758749090184	0.21279	0.05031	0.10815	N	AEFBI	.	.	.	-0.953677044679823	0.09610	0.455584	-0.837314421466742	0.13593	0.7059716	0.144770258174769	0.17338	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.05	2.12	0.26372	-2.569000	0.00990	.	.	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.598000	0.31338	0.1214:0.3167:0.5619:0.0	9.659	0.39109	259	0.89842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4638.43	149	chr11	62528229	.	G	C	4638.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.5;DP=1072;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.59;MQRankSum=-5.569;QD=11.4;ReadPosRankSum=0.045;SOR=0.771	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	9	0	1	0
chr11	62529646	62529646	G	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C4771T:p.P1591S,AHNAK:NM_001346446:exon5:c.C4771T:p.P1591S,AHNAK:NM_001620:exon5:c.C4771T:p.P1591S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.00356483628491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.118	0.36233	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999633	0.81001	D	1.915	0.51223	L	4.03	0.03149	T	-4.0	0.74051	D	0.158	0.16447	-1.1161	0.02594	T	0.049	0.21026	T	9	0.40800133	0.56027	T	0.003565	0.08123	T	0.178	0.44724	0.321	0.30064	0.407357902709	0.40350	0.1936090667168887	0.19278	0.0380171339302	0.04038	0.28936457634	0.08830	T	0.571311	0.85810	D	-0.153875	0.27706	T	-0.458807	0.26729	T	0.804212272167206	0.46642	D	0.846115	0.52582	T	0.20956984	0.43229	0.34362406	0.60071	0.20956984	0.43229	0.34362406	0.60071	-8.619	0.65215	D	.	.	0.158	0.34949	B	.	.	1.789795	0.22753	15.75	0.98480299009490935	0.41966	0.96498	0.69439	D	AEFBI	.	.	.	0.381065007952099	0.60397	4.22812	0.239901744481617	0.52075	3.385057	0.999999993440921	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.4	4.4	0.52402	2.361000	0.43814	.	.	0.503000	0.22915	0.996000	0.39380	0.021000	0.20819	0.034000	0.13613	0.0:0.0:1.0:0.0	14.761	0.69225	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2866.43	203	chr11	62529646	.	G	A	2866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.12;DP=756;ExcessHet=0;FS=4.858;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.12;ReadPosRankSum=0.272;SOR=0.654	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,108,1620	9	0	1	0
chr11	62627118	62627118	G	A	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon16:c.C1910T:p.A637V,GANAB:NM_001278192:exon17:c.C1976T:p.A659V,GANAB:NM_001278194:exon18:c.C1961T:p.A654V,GANAB:NM_001329222:exon19:c.C1961T:p.A654V,GANAB:NM_001329223:exon19:c.C1961T:p.A654V,GANAB:NM_001329224:exon19:c.C1529T:p.A510V,GANAB:NM_001329225:exon19:c.C1529T:p.A510V,GANAB:NM_198334:exon19:c.C2252T:p.A751V,GANAB:NM_198335:exon20:c.C2318T:p.A773V	Polycyctic kidney disease 3, Autosomal dominant	427	1094	1	0	0	1	0.00045683	.	.	.	1971661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.512	0.232496287012	7.7e-05	.	2.476e-05	9.675e-05	0	0	0	3.002e-05	0	0	1.94e-05	3	154602	rs140219733	2.26e-05	2.531e-05	2.18e-05	2.34e-05	0.0001	1.612e-05	1.418e-05	3.983e-05	2.374e-05	0.0001	0	0	0	1.873e-05	0	2.161e-05	3.314e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.49117	D	0.176	0.33219	T	0.584	0.53072	P	0.157	0.51788	B	0.000789	0.41772	N	0.235176	0.979622	0.39581	D	3.855	0.95805	H	-2.93	0.91800	D	-2.66	0.60665	D	0.241	0.31140	0.786	0.94240	D	0.812	0.93657	D	10	0.6512936	0.69618	D	0.232496	0.88324	D	0.512	0.79094	.	.	0.713009302571	0.71049	0.6707139369726743	0.67009	0.226289450502	0.25184	0.458882957697	0.33157	T	0.765976	0.93698	D	-0.0539855	0.43840	T	-0.133176	0.60704	T	0.929751217365265	0.59401	D	0.985501	0.95103	D	0.10939872	0.25863	0.14655776	0.34717	0.10939872	0.25862	0.14655776	0.34716	-8.979	0.68299	D	0.4632212839181675	0.54503	0.176	0.38498	B	.;.;.;.;.	.;.;.;.;.	3.674257	0.52266	23.2	0.99802363083835433	0.88728	0.96629	0.70104	D	AEFBI	0.758157	0.69689	D	0.48429039477098	0.66171	4.91594	0.475754473120397	0.66388	4.94545	0.998547985353306	0.37167	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	4.6	0.56512	4.708000	0.61548	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0833:0.0:0.9167:0.0	11.870	0.51795	244	0.90442	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1987.43	36	chr11	62627118	.	G	A	1987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.32;DP=492;ExcessHet=0;FS=7.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-1.299;SOR=0.324	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr11	62649014	62649014	A	C	exonic	INTS5	.	nonsynonymous SNV	INTS5:NM_030628:exon2:c.T1066G:p.S356A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00341116870705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.205	0.27145	T	0.043	0.21573	B	0.019	0.18783	B	0.000005	0.62929	D	0.064020	0.675929	0.33187	D	1.04	0.26193	L	.	.	.	-0.49	0.15578	N	0.169	0.17966	-0.8577	0.51427	T	0.113	0.40422	T	9	0.13921371	0.26471	T	0.003411	0.07664	T	0.059	0.16972	0.335	0.32329	0.337439445736	0.33357	0.2997178067159848	0.29884	0.400708583971	0.41073	0.762351930141	0.76279	T	0.038542	0.24878	T	-0.00399013	0.51102	T	-0.243508	0.50456	T	0.603894174098969	0.36555	D	0.626337	0.24237	T	0.17183024	0.37839	0.066152535	0.13510	0.17183024	0.37839	0.066152535	0.13510	-2.767	0.07883	T	.	.	0.109	0.20934	B	.	.	3.081535	0.41459	21.4	0.9873790678619685	0.45452	0.95352	0.64386	D	AEFBCI	0.585143	0.58368	D	-0.0409903838230542	0.40004	2.368541	0.130342418526993	0.46109	2.862301	0.999999995856246	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	5.561000	0.67042	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	12.223	0.53755	296	0.88164	Integrator complex subunit 5, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2651.12	34	chr11	62649014	.	A	C	2651.12	.	AC=2;AF=0.1;AN=20;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.13;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2674,264,0	9	1	0	0
chr11	62649164	62649164	C	T	exonic	INTS5	.	nonsynonymous SNV	INTS5:NM_030628:exon2:c.G916A:p.G306R	.	.	.	.	.	.	.	.	.	.	.	3968871	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0102790380542	.	.	6.651e-05	0	0	0.0001	0	4.549e-05	0	0.0002	5.17e-05	8	154602	rs781520641	4.037e-05	4.036e-05	3.268e-05	4.815e-05	0.0002	3.18e-05	2.911e-05	0.0001	0.0001	0	6.709e-05	0	0	0	0.0002	3.059e-05	3.313e-05	0.0002	7.885e-05	7.879e-05	6.423e-05	9.415e-05	0.0004	4.496e-05	3.512e-05	7.285e-05	3.053e-05	0.0001	0	0.0001	0	0	0	0	4.41e-05	0	0.0004	0.064	0.36509	T	0.095	0.39492	T	0.99	0.63424	D	0.492	0.47401	P	0.000278	0.46590	D	0.147744	0.95048	0.37697	D	0.55	0.14455	N	.	.	.	-0.71	0.20145	N	0.475	0.51048	-0.8036	0.54932	T	0.145	0.46859	T	9	0.19570446	0.35433	T	0.010279	0.26632	T	0.067	0.19503	0.223	0.14665	0.143184338766	0.13958	0.6849780846380448	0.68436	1.12451302267	0.78409	0.704368829727	0.67776	T	0.036464	0.24114	T	-0.202711	0.20413	T	-0.292288	0.45535	T	0.0509734377264977	0.05670	T	0.922308	0.71764	D	0.16921665	0.37425	0.09936293	0.23722	0.16921665	0.37425	0.09936293	0.23722	-9.798	0.72693	D	.	.	0.548	0.66717	A	.	.	4.490815	0.70148	25.5	0.99791379226756149	0.87750	0.89641	0.50236	D	AEFBI	0.350496	0.44392	N	0.197923587199538	0.51100	3.293924	0.181379648045835	0.48828	3.093524	0.999989089602491	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	4.45	0.53365	2.194000	0.42301	.	.	0.599000	0.40250	0.953000	0.33222	1.000000	0.68203	0.821000	0.38685	0.0:1.0:0.0:0.0	14.656	0.68436	298	0.88068	Integrator complex subunit 5, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1410.43	34	chr11	62649164	.	C	T	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=432;ExcessHet=0;FS=2.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.265;SOR=1.009	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,108,1620	9	0	1	0
chr11	62676912	62676912	C	G	exonic	UBXN1	.	nonsynonymous SNV	UBXN1:NM_001286078:exon6:c.G568C:p.E190Q,UBXN1:NM_001286077:exon8:c.G745C:p.E249Q,UBXN1:NM_015853:exon8:c.G745C:p.E249Q	.	.	.	.	.	.	.	.	.	.	.	2813276	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.038	.	0.0056	0.00379393	0.0061	0.0013	0.0022	0	0.0123	0.0090	0.0077	0.0008	0.0063583	983	154602	rs111325595	0.0089	0.0089	0.0093	0.0085	0.0103	0.0087	0.0087	0.0101	0.0100	0.0013	0.0027	0.0075	2.519e-05	0.0123	0.0010	0.0103	0.0075	0.0010	0.0066	0.0066	0.0062	0.0070	0.0094	0.0063	0.0061	0.0088	0.0085	0.0021	0.0208	0.0030	0.0089	0	0.0155	0	0.0094	0.0052	0.0023	0.081	0.33418	T	0.505	0.15355	T	0.414	0.43117	B	0.076	0.37471	B	0.001916	0.37691	N	0.279501	1	0.81001	D	1.44	0.36004	L	1.92	0.23486	T	-1.35	0.36189	N	0.208	0.29544	-1.0684	0.09768	T	0.034	0.14464	T	10	0.0033310056	0.00057	T	.	.	.	0.038	0.09825	.	.	0.193917141947	0.19028	0.3227674887799808	0.32189	0.944348631935	0.72353	0.534112989902	0.43614	T	0.033287	0.22852	T	-0.545482	0.00310	T	-0.545293	0.17779	T	0.0131880632387009	0.00234	T	0.880612	0.60417	D	0.10481951	0.24780	0.06813455	0.14190	0.10481951	0.24780	0.06813455	0.14189	-6.132	0.47371	T	.	.	0.086	0.11124	B	.;.;.;.;.	.;.;.;.;.	3.421405	0.47512	22.5	0.9844850319181454	0.41598	0.89654	0.50257	D	AEFDBHCI	0.531028	0.55148	D	0.0240261640565567	0.42950	2.597575	0.135651212518168	0.46385	2.885439	0.999999989620046	0.74766	0.712529	0.81865	0	0.696144	0.67643	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.35	4.42	0.52775	4.536000	0.60348	.	.	0.587000	0.30956	0.997000	0.40164	1.000000	0.68203	0.811000	0.38219	0.0:0.8331:0.1669:0.0	12.636	0.56045	404	0.82510	.;UBX domain|UBX domain|UBX domain;UBX domain|UBX domain|UBX domain;UBX domain|UBX domain|UBX domain;UBX domain|UBX domain|UBX domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	2427.12	34	chr11	62676912	.	C	G	2427.12	.	AC=2;AF=0.1;AN=20;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.33;SOR=2.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1307	9	1	0	0
chr11	62789988	62789988	G	A	exonic	TMEM179B	.	nonsynonymous SNV	TMEM179B:NM_001363601:exon4:c.G436A:p.D146N,TMEM179B:NM_001363600:exon5:c.G559A:p.D187N,TMEM179B:NM_199337:exon5:c.G601A:p.D201N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0079040878907	.	.	1.649e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs768116893	1.847e-05	1.847e-05	1.77e-05	1.925e-05	2.338e-05	1.265e-05	1.084e-05	1.627e-05	1.382e-05	0	0	0	0	1.872e-05	0	2.338e-05	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.047	0.40319	D	0.0	0.92824	D	0.999	0.77913	D	0.974	0.73157	D	0.000360	0.45440	D	0.224693	0.975816	0.81001	D	2.255	0.64187	M	.	.	.	-2.17	0.49018	N	0.095	0.07535	-0.4870	0.69115	T	0.309	0.67976	T	9	0.21178055	0.37617	T	0.007904	0.20955	T	0.092	0.26621	0.169	0.07419	0.269558022972	0.26553	0.3209501666749614	0.32008	0.0173837147037	0.01686	0.369395583868	0.20745	T	0.088559	0.38184	T	-0.205361	0.20036	T	-0.469118	0.25611	T	0.79795628786087	0.46215	D	0.714229	0.32652	T	0.11839952	0.27897	0.10298984	0.24700	0.11839952	0.27897	0.10298984	0.24699	-3.992	0.23683	T	.	.	0.145	0.32054	B	.	.	3.294952	0.45205	22.1	0.99912930384592635	0.98167	0.50935	0.28778	D	AEFDBHCI	0.355257	0.44705	N	0.359676879906344	0.59252	4.103152	0.303299799086285	0.55733	3.73617	0.999999974028561	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.38	4.45	0.53365	1.235000	0.32274	.	.	0.676000	0.76740	0.672000	0.28366	0.001000	0.17328	0.997000	0.79791	0.0:0.0:0.8168:0.1832	11.233	0.48153	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1630.43	35	chr11	62789988	.	G	A	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.64;DP=473;ExcessHet=0;FS=4.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.817;SOR=0.411	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr11	62981322	62981322	C	T	exonic	SLC22A6	.	nonsynonymous SNV	SLC22A6:NM_004790:exon5:c.G859A:p.A287T,SLC22A6:NM_153276:exon5:c.G859A:p.A287T,SLC22A6:NM_153277:exon5:c.G859A:p.A287T,SLC22A6:NM_153278:exon5:c.G859A:p.A287T	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00839810178884	7.7e-05	0.000399361	0.0008	0	0	0.0004	0	0.0001	0.0022	0.0038	0.0004075	63	154602	rs377725235	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0032	6e-05	0	0	2.54e-05	0	0.0017	7.676e-05	0.0002	0.0036	9.206e-05	9.188e-05	5.145e-05	0.0001	0.0017	5.532e-05	4.368e-05	0.0008	0.0006	4.822e-05	0	6.547e-05	0	0.0002	0	0	2.943e-05	0	0.0017	0.639	0.05584	T	0.546	0.10281	T	0.001	0.09854	B	0.003	0.13708	B	0.055779	0.22615	N	0.502163	1	0.08975	N	0.345	0.11182	N	-0.78	0.73631	T	0.27	0.04861	N	0.205	0.26475	-0.9949	0.31326	T	0.148	0.47451	T	10	0.009175301	0.00207	T	0.008398	0.22231	T	0.045	0.12272	.	.	0.187945064343	0.18414	0.06144112278218523	0.06084	0.178367345857	0.20065	0.346624046564	0.17424	T	0.171448	0.51958	T	-0.46976	0.00853	T	-0.449975	0.27699	T	0.0270712122040462	0.01555	T	0.129687	0.01018	T	0.047104087	0.07995	0.061183076	0.11772	0.047104087	0.07994	0.061183076	0.11772	-2.92	0.17438	T	.	.	0.074	0.14247	B	.;.;.;.	.;.;.;.	1.130628	0.15173	11.64	0.89162773506726101	0.18564	0.02691	0.07330	N	AEFDBI	0.029452	0.02782	N	-1.07863236777289	0.07038	0.3257708	-1.02210883127084	0.09299	0.4618861	0.0168524500815573	0.12882	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.9	-0.169	0.12685	0.282000	0.18587	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.0:0.5838:0.0:0.4162	8.626	0.33054	804	0.43891	.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.001362	0.000000	0.000000	0.000000	0.003067	0.003788	0.05	1674.43	33	chr11	62981322	.	C	T	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.242;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.229;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	9	0	1	0
chr11	63166073	63166073	C	T	exonic	SLC22A25	.	nonsynonymous SNV	SLC22A25:NM_199352:exon7:c.G1256A:p.C419Y	.	.	.	.	.	.	.	.	.	.	.	2317879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0058713840257	.	.	8.267e-06	0	0	0	0	1.502e-05	0	0	2.59e-05	4	154602	rs775776820	2.326e-05	2.326e-05	2.451e-05	2.2e-05	0.0002	1.674e-05	1.478e-05	1.998e-05	1.741e-05	0	2.237e-05	0	0	0	0.0002	2.788e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.016	0.51853	D	1.0	0.01155	T	0.457	0.36287	P	0.296	0.40883	B	0.312504	0.14409	N	0.699685	1	0.08975	N	2.345	0.67358	M	0.39	0.57419	T	-1.49	0.36385	N	0.347	0.38848	-0.9735	0.36453	T	0.115	0.40831	T	10	0.5826571	0.65936	D	0.005871	0.15281	T	0.109	0.30843	0.701	0.83777	0.212008924253	0.20833	0.4511411133600434	0.45032	0.0264939278089	0.02708	0.303060978651	0.10859	T	0.48053	0.80948	T	-0.21067	0.19284	T	-0.476744	0.24794	T	0.117138197552916	0.14147	T	0.492951	0.15215	T	0.2510762	0.48113	0.26417652	0.52233	0.2510762	0.48113	0.26417652	0.52233	-7.923	0.60544	D	.	.	0.292	0.52376	B	.	.	-0.593360	0.01591	0.107	0.5925223128354572	0.06181	0.00926	0.03595	N	AEFDBHCIJ	0.031184	0.03280	N	-1.1147449179985	0.06380	0.293532	-1.30436171817753	0.04373	0.2061423	0.999999944001335	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.648885	0.59868	0	.	.	4.66	-5.73	0.02204	-0.777000	0.04775	-12.628000	0.00511	-0.488000	0.05050	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3576:0.3493:0.2931:0.0	6.896	0.23439	819	0.41190	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1530.43	102	chr11	63166073	.	C	T	1530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=411;ExcessHet=0;FS=0.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15;ReadPosRankSum=0.05;SOR=0.867	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	9	0	1	0
chr11	63290238	63290238	C	T	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon1:c.C73T:p.L25F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00343814914755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.498	0.11263	T	0.009	0.15093	B	0.008	0.13708	B	0.670784	0.10343	N	0.836159	1	0.08975	N	0.585	0.15399	N	0.6	0.53731	T	-1.06	0.27669	N	0.111	0.09772	-1.0334	0.19363	T	0.070	0.28609	T	10	0.042034864	0.02914	T	0.003438	0.07755	T	0.027	0.05988	0.359	0.36222	0.0884992946249	0.08302	0.34639545789419457	0.34553	0.0155235919736	0.01479	0.325473725796	0.14249	T	0.004242	0.03650	T	-0.264077	0.12426	T	-0.617105	0.11413	T	0.986176431179047	0.76962	D	0.288571	0.05217	T	0.03839796	0.05108	0.03959984	0.04088	0.03839796	0.05108	0.03959984	0.04088	-4.392	0.29448	T	.	.	0.098	0.16363	B	.	.	-1.318392	0.00423	0.008	0.40667526190809317	0.02885	0.00529	0.02453	N	AEFBCI	0.062766	0.12086	N	-1.57802451807214	0.01378	0.06005529	-1.67294110990565	0.01262	0.05688687	0.996999245436295	0.35182	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-3.69	0.04162	-5.163000	0.00171	-20.000000	0.00162	-0.584000	0.04686	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1616:0.2773:0.0:0.561	4.736	0.12364	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	149.46	84	chr11	63290238	.	C	T	149.46	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.009;DP=904;ExcessHet=0.2348;FS=124.706;InbreedingCoeff=-0.1252;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-0.134;SOR=9.877	GT:AD:DP:GQ:PL	0/0:62,18:80:11:0,11,1233	8	0	2	0
chr11	63304197	63304197	C	A	exonic	SLC22A10	.	nonsynonymous SNV	SLC22A10:NM_001039752:exon8:c.C1375A:p.L459I	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00938774180779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	8.995e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.007	0.69154	D	0.997	0.70673	D	0.934	0.66904	D	0.000202	0.47681	U	0.086330	1	0.31007	N	3.06	0.86941	M	-0.87	0.74583	T	-1.67	0.39887	N	0.493	0.52651	-0.2649	0.75953	T	0.320	0.68882	T	10	0.8408878	0.83245	D	0.009388	0.24623	T	0.387	0.70358	0.745	0.87654	0.224531998449	0.22054	0.25533786640901246	0.25447	0.105735292603	0.11956	0.523734271526	0.42152	T	0.100075	0.40551	T	-0.0432903	0.45458	T	-0.29996	0.44728	T	0.886102676391602	0.53649	D	0.691131	0.30052	T	0.35061187	0.57115	0.2399684	0.49360	0.35061187	0.57115	0.2399684	0.49359	-5.794	0.44522	T	.	.	0.163	0.35910	B	.	.	2.330114	0.29851	18.25	0.79390030302325765	0.12720	0.53716	0.29439	D	AEFI	0.361238	0.45092	N	-0.168923267255855	0.34433	1.965275	-0.274315710401345	0.28948	1.617985	7.21841035634535E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.05	3.05	0.34272	2.027000	0.40699	1.551000	0.27293	-0.273000	0.06669	0.466000	0.26691	0.865000	0.27529	0.001000	0.02609	0.0:1.0:0.0:0.0	9.858	0.40267	794	0.45591	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1408.43	33	chr11	63304197	.	C	A	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=450;ExcessHet=0;FS=4.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.221;SOR=0.409	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr11	63382169	63382169	C	T	exonic	SLC22A9	.	nonsynonymous SNV	SLC22A9:NM_080866:exon6:c.C965T:p.S322F	.	445	1072	5	0	0	5	0.00232666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0255077627286	7.7e-05	0.000798722	0.0012	9.615e-05	0	0	0	0.0003	0	0.0080	0.001022	158	154602	rs373670819	0.0005	0.0005	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	6.145e-05	9.401e-05	0	0	0	0.0019	7.033e-05	0.0005	0.0078	0.0004	0.0004	0.0002	0.0005	0.0069	0.0003	0.0003	0.0050	0.0044	7.236e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0010	0.0069	0.001	0.78490	D	0.002	0.79402	D	0.985	0.61118	D	0.873	0.61978	P	.	.	.	.	1	0.08975	N	2.545	0.74286	M	-0.24	0.66834	T	-4.56	0.78636	D	0.437	0.47580	-0.6729	0.61697	T	0.393	0.74626	T	9	0.008384198	0.00190	T	0.025508	0.48476	D	0.137	0.36984	.	.	0.350746614512	0.34690	0.262985679253383	0.26211	0.0170241227096	0.01645	0.647627592087	0.59649	T	0.491424	0.81580	T	-0.462475	0.00949	T	-0.432103	0.29698	T	0.104687742948318	0.12865	T	0.461754	0.13398	T	0.30239958	0.53119	0.28834462	0.54850	0.30239958	0.53119	0.28834462	0.54849	-7.32	0.56337	T	.	.	0.209	0.43585	B	.	.	2.607653	0.33864	19.46	0.99615646610539899	0.75112	0.02336	0.06681	N	AEFBI	0.108352	0.21557	N	-0.118439739512846	0.36589	2.117042	-0.341595175962785	0.26770	1.480813	5.11956520037725E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.43	2.5	0.29355	1.084000	0.30439	-0.430000	0.09227	0.513000	0.23382	0.001000	0.13787	0.000000	0.08366	0.048000	0.15020	0.0:0.8671:0.0:0.1329	6.887	0.23389	666	0.61362	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	948.43	86	chr11	63382169	.	C	T	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=400;ExcessHet=0;FS=5.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.162;SOR=1.326	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	9	0	1	0
chr11	64226759	64226759	G	A	exonic	NUDT22	.	nonsynonymous SNV	NUDT22:NM_001128612:exon2:c.G107A:p.G36D,NUDT22:NM_001128613:exon2:c.G107A:p.G36D,NUDT22:NM_001271831:exon2:c.G107A:p.G36D,NUDT22:NM_032344:exon2:c.G107A:p.G36D	.	.	.	.	.	.	.	.	.	.	.	3355908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00503458831806	0.0003	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.0001682	26	154602	rs144318476	0.0001	0.0001	0.0001	0.0001	0.0007	9.559e-05	9.039e-05	0.0002	0.0001	0	0.0002	0.0012	0	0	0.0007	9.353e-05	0.0001	4.637e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.658e-05	7.251e-05	0.0001	0.0001	0	0	6.533e-05	0.0009	0	0	0	0.0002	0	0.0002	0.508	0.08839	T	0.521	0.13993	T	0.206	0.29860	B	0.076	0.28435	B	0.257892	0.15375	N	0.658399	0.999979	0.18612	N	1.16	0.29674	L	1.03	0.40469	T	0.51	0.02898	N	0.427	0.46649	-1.0606	0.11607	T	0.041	0.17615	T	10	0.03417149	0.01617	T	0.005035	0.12722	T	0.033	0.08068	.	.	0.388970301349	0.38507	0.5897340298208447	0.58903	0.67148558951	0.59462	0.469853371382	0.34659	T	0.002952	0.02350	T	-0.347818	0.04865	T	-0.457958	0.26823	T	0.0172389546113078	0.00466	T	0.810019	0.46084	T	0.09819067	0.23157	0.062286764	0.12163	0.09819067	0.23157	0.062286764	0.12162	-5.219	0.43889	T	.	.	0.105	0.28406	B	.;.;.;.	.;.;.;.	2.477694	0.31942	18.89	0.89252477306415356	0.18638	0.18932	0.20460	N	AEFDGBHCI	0.186629	0.31394	N	-0.632332407910015	0.17978	0.9297497	-0.530788226766067	0.21318	1.152728	0.999999999977756	0.74766	0.733237	0.96898	0	0.504199	0.08210	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.41	2.49	0.29274	1.666000	0.37076	3.951000	0.40674	0.618000	0.50648	0.825000	0.30060	1.000000	0.68203	0.303000	0.24570	0.2985:0.0:0.7015:0.0	6.715	0.22484	658	0.62094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1717.43	122	chr11	64226759	.	G	A	1717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.18;DP=440;ExcessHet=0;FS=2.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.082;SOR=0.608	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1340	9	0	1	0
chr11	64241812	64241812	C	A	exonic	LOC114841035	.	nonsynonymous SNV	LOC114841035:NM_001370414:exon1:c.C533A:p.P178H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	.	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	36.59	2	chr11	64241812	.	C	A	36.59	.	AC=2;AF=0.143;AN=14;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=18.3;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	6	1	0	3
chr11	64265057	64265057	C	A	exonic	PLCB3	.	nonsynonymous SNV	PLCB3:NM_001184883:exon21:c.C2558A:p.P853H,PLCB3:NM_000932:exon23:c.C2759A:p.P920H,PLCB3:NM_001316314:exon23:c.C2759A:p.P920H	.	.	.	.	.	.	.	.	.	.	.	784052	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	0.0116511235889	.	0.000199681	0.0028	0.0006	0	0	0	0	0.0054	0.0079	0.0006209	96	154602	rs538437430	0.0004	0.0004	0.0002	0.0006	0.0070	0.0004	0.0004	0.0066	0.0064	3.13e-05	0	0	2.747e-05	0	0	0	0.0003	0.0070	8.652e-05	0.0002	3.901e-05	0.0001	0.0028	5.019e-05	4.01e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0028	0.011	0.55530	D	0.045	0.53426	D	0.008	0.14655	B	0.007	0.12992	B	0.866311	0.07147	N	1.059890	0.934267	0.40790	D	2.365	0.68172	M	2.58	0.13434	T	-1.11	0.31375	N	0.361	0.40364	-1.1094	0.03122	T	0.038	0.16376	T	10	0.0042381287	0.00085	T	0.011651	0.29486	T	0.037	0.09474	0.198	0.11110	0.161926535498	0.15789	0.2539175356855013	0.25305	0.536939426381	0.51015	0.414970636368	0.27143	T	0.369244	0.73399	T	-0.201638	0.20570	T	-0.527416	0.19545	T	0.0396950062817707	0.03635	T	0.69773	0.30785	T	0.13982064	0.32284	0.118715405	0.28657	0.13982064	0.32283	0.118715405	0.28656	-5.472	0.41606	T	.	.	0.084	0.09578	B	.;.;.	.;.;.	2.508851	0.32397	19.03	0.98816424851867668	0.46704	0.53387	0.29359	D	AEFBI	0.156574	0.28195	N	-0.449683494786689	0.23750	1.277636	-0.397509466736969	0.25071	1.376585	0.996838598920008	0.35047	0.695654	0.57023	0	0.601575	0.49859	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.02	4.1	0.47196	2.387000	0.44043	1.641000	0.27792	0.594000	0.32500	0.143000	0.23551	0.041000	0.21590	0.459000	0.28096	0.0:0.8011:0.1989:0.0	11.305	0.48568	658	0.62094	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000524	0.000000	0.001401	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	507.43	35	chr11	64265057	.	C	A	507.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.406;DP=330;ExcessHet=0;FS=8.232;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.23;SOR=1.948	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr11	64300949	64300949	A	G	exonic	CATSPERZ	.	nonsynonymous SNV	CATSPERZ:NM_001039496:exon2:c.A314G:p.N105S	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0006	0.00379393	0.0105	0.0055	0.0010	0.0387	0	0.0002	0.0170	0.0256	0.0025291	391	154602	rs150476596	0.0018	0.0018	0.0014	0.0022	0.0264	0.0017	0.0017	0.0251	0.0245	0.0030	0.0006	0	0.0264	0	0.0019	5.022e-05	0.0020	0.0154	0.0021	0.0021	0.0018	0.0023	0.0149	0.0019	0.0018	0.0121	0.0111	0.0031	0	0.0026	0	0.0126	0	0	7.351e-05	0.0014	0.0149	0.735	0.03753	T	0.809	0.03956	T	0.278	0.32022	B	0.114	0.31755	B	.	.	.	.	1	0.08975	N	.	.	.	0.96	0.42888	T	-0.94	0.25118	N	0.028	0.00618	-1.0112	0.26541	T	0.025	0.10509	T	9	0.0033932328	0.00059	T	.	.	.	0.033	0.08068	.	.	0.0297737177859	0.01360	0.014453802351999043	0.01402	0.411176588507	0.41879	0.262377500534	0.05176	T	0.011796	0.10472	T	-0.728626	0.00024	T	-0.806423	0.01747	T	0.0145003614919008	0.00295	T	0.258474	0.04102	T	0.023633495	0.01120	0.031920515	0.01850	0.023633495	0.01120	0.031920515	0.01850	-2.037	0.03323	T	.	.	0.079	0.07130	B	.;.	.;.	-1.535117	0.00274	0.004	0.3447500820596659	0.02111	0.03617	0.08854	N	ALL	0.045794	0.07529	N	-1.69730261067443	0.00851	0.03682748	-1.82863139800257	0.00672	0.02988393	0.999999999999998	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.503968	0.08637	0	0.618803	0.45993	0	.	.	4.23	-8.46	0.00822	-2.069000	0.01469	-2.984000	0.03168	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3647:0.2068:0.2235:0.205	0.440	0.00452	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001013	0.000000	0.001366	0.002959	0.000000	0.000000	0.003086	0.000000	0.05	644.43	34	chr11	64300949	.	A	G	644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.645;DP=376;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.23;SOR=0.547	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1351	9	0	1	0
chr11	64320780	64320780	G	T	exonic	PRDX5	.	nonsynonymous SNV	PRDX5:NM_001358511:exon2:c.G291T:p.K97N,PRDX5:NM_001358516:exon3:c.G270T:p.K90N,PRDX5:NM_012094:exon3:c.G426T:p.K142N	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0021	0.00339457	0.0039	0.0010	0.0014	0	0.0073	0.0035	0.0022	0.0098	0.0036416	563	154602	rs142314160	0.0030	0.0030	0.0028	0.0033	0.0108	0.0030	0.0029	0.0090	0.0088	0.0006	0.0010	0.0129	0	0.0059	0.0108	0.0023	0.0038	0.0095	0.0024	0.0024	0.0023	0.0025	0.0081	0.0022	0.0021	0.0061	0.0054	0.0005	0	0.0012	0.0118	0	0.0062	0.0034	0.0025	0.0047	0.0081	0.999	0.01930	T	0.914	0.02926	T	0.0	0.02946	B	0.002	0.06944	B	0.931437	0.08418	N	0.970693	1	0.08975	N	0.135	0.08676	N	0.87	0.46412	T	1.04	0.01332	N	0.164	0.17278	-0.9995	0.30058	T	0.031	0.13286	T	10	0.0032073557	0.00054	T	.	.	.	0.042	0.11227	0.399	0.42753	0.162503812791	0.15892	0.7103360674987805	0.70975	0.135934299944	0.15331	0.306939780712	0.11444	T	0.10943	0.42330	T	-0.679651	0.00048	T	-0.741087	0.03845	T	0.00420612251847449	0.00045	T	0.867913	0.56927	D	0.19736712	0.41599	0.07585731	0.16741	0.19736712	0.41599	0.07585731	0.16741	-6.77	0.52336	T	.	.	0.130	0.27939	B	.	.	0.161592	0.05522	1.982	0.76430800272248767	0.11465	0.09661	0.15367	N	AEFGBCI	0.612336	0.60045	D	-1.39364366188361	0.02697	0.1194626	-1.4067633592384	0.03184	0.1480001	0.999999302266234	0.74766	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.66	-6.13	0.01937	-2.215000	0.01306	-3.144000	0.03024	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.235:0.1233:0.4619:0.1798	3.077	0.05874	641	0.64016	Redoxin|Thioredoxin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.000000	0.017663	0.005848	0.000000	0.017241	0.015244	0.022727	0.1	2943.12	33	chr11	64320780	.	G	T	2943.12	.	AC=2;AF=0.1;AN=20;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.43;SOR=0.909	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2966,300,0	9	1	0	0
chr11	64343799	64343799	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon13:c.C1340T:p.P447L	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.000798722	0.0043	0.0003	0	0	0	0	0.0036	0.0191	0.0012354	191	154602	rs555368347	0.0007	0.0007	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	3.047e-05	0	0	2.604e-05	0	0	9.118e-07	0.0006	0.0119	0.0003	0.0003	0.0002	0.0005	0.0100	0.0002	0.0002	0.0077	0.0069	0	0	0	0	0	0	0	0	0	0.0100	0.125	0.27310	T	0.084	0.41239	T	0.911	0.50336	P	0.602	0.50862	P	.	.	.	.	0.957541	0.38029	D	0.345	0.11182	N	2.08	0.20255	T	-2.46	0.53736	N	0.255	0.28849	-1.1114	0.02952	T	0.041	0.17785	T	9	0.0072626173	0.00165	T	.	.	.	0.044	0.11924	0.218	0.13932	0.158396225186	0.15383	0.3786413403755466	0.37779	0.389253285072	0.40171	0.744593024254	0.73649	T	0.018555	0.14935	T	-0.604983	0.00136	T	-0.631405	0.10309	T	0.0982954278092049	0.12168	T	0.728627	0.34357	T	0.042876672	0.06583	0.075484	0.16623	0.042876672	0.06583	0.075484	0.16623	-3.977	0.23458	T	.	.	0.12	0.24767	B	.	.	3.089314	0.41587	21.4	0.99658155285293848	0.77757	0.47036	0.27893	N	AEFGBCI	0.111854	0.22131	N	-0.307399401469398	0.28866	1.595823	-0.386381558142843	0.25403	1.39675	0.999996098820751	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.596874	0.31795	0	0.584449	0.35598	0	.	.	3.53	2.61	0.30255	0.227000	0.17575	3.220000	0.36848	0.598000	0.34611	0.000000	0.06391	0.920000	0.28304	0.141000	0.19983	0.0:0.8706:0.0:0.1294	6.997	0.23965	596	0.68392	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001012	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	436.43	34	chr11	64343799	.	C	T	436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.357;DP=379;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.899;SOR=0.777	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1177	9	0	1	0
chr11	64344322	64344322	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon14:c.G1781A:p.R594H	.	426	1012	80	4	0	88	0.0416667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0072	0.00798722	0.0107	0.0015	0.0025	0.0002	0.0059	0.0092	0.0213	0.0359	0.0101422	1568	154602	rs74511597	0.0100	0.0100	0.0089	0.0111	0.0371	0.0099	0.0098	0.0361	0.0356	0.0010	0.0030	0.0038	0.0002	0.0082	0.0172	0.0090	0.0095	0.0371	0.0072	0.0072	0.0067	0.0077	0.0329	0.0068	0.0067	0.0288	0.0272	0.0013	0.0252	0.0039	0.0040	0.0004	0.0056	0.0068	0.0104	0.0066	0.0329	0.698	0.04200	T	0.737	0.05036	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	2.59	0.00213	N	0.005	0.00034	-1.0565	0.12646	T	0.008	0.02884	T	9	0.0019658506	0.00027	T	.	.	.	0.007	0.00512	.	.	.	.	0.18676610198172622	0.18594	0.318130370587	0.34044	0.253022998571	0.04093	T	0.00132	0.00800	T	-0.713434	0.00030	T	-0.771813	0.02709	T	0.000664777419222277	0.00006	T	0.210879	0.02555	T	0.014778137	0.00107	0.023305833	0.00345	0.014778137	0.00107	0.023305833	0.00344	-3.914	0.22512	T	.	.	0.059	0.00820	B	.	.	-1.216232	0.00515	0.012	0.26890395915027226	0.01309	0.00549	0.02518	N	AEFDGBI	0.024649	0.01560	N	-2.41341640516398	0.00025	0.001092386	-2.46920267428745	0.00027	0.001200507	0.999999999998934	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.638833	0.57524	0	.	.	3.78	-7.57	0.01176	-1.719000	0.01973	-3.423000	0.02798	-1.923000	0.00505	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2231:0.3559:0.2338:0.1872	1.682	0.02662	596	0.68392	.	.	.	.	.	rs74511597	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.005051	0.010870	0.014620	0.100000	0.000000	0.030488	0.037879	0.05	748.43	34	chr11	64344322	.	G	A	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.779;DP=398;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.324;SOR=0.968	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1267	9	0	1	0
chr11	64349373	64349373	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon15:c.C2659T:p.R887W	.	426	1075	20	1	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.516876733271	.	0.00119808	0.0024	0.0008	0.0006	0	0.0079	0.0017	0.0024	0.0067	0.002044	316	154602	rs149017597	0.0021	0.0021	0.0020	0.0023	0.0058	0.0021	0.0020	0.0054	0.0052	0.0004	0.0004	0.0013	2.519e-05	0.0059	0.0055	0.0019	0.0021	0.0058	0.0016	0.0016	0.0014	0.0017	0.0035	0.0014	0.0013	0.0022	0.0018	0.0005	0	0.0007	0.0012	0	0.0062	0	0.0017	0.0028	0.0035	0.004	0.68238	D	0.005	0.76473	D	0.999	0.77913	D	0.857	0.61067	P	.	.	.	.	1	0.81001	D	1.545	0.39105	L	1.83	0.49068	T	-3.82	0.71997	D	0.752	0.75101	-0.6427	0.63030	T	0.231	0.59682	T	9	0.037271976	0.02071	T	0.516877	0.95387	D	0.160	0.41473	.	.	0.323615622048	0.31974	0.36906211240562814	0.36820	0.915477084203	0.71221	0.557792663574	0.46955	T	0.070985	0.34095	T	-0.40467	0.02157	T	-0.351445	0.39040	T	0.0280215886968209	0.01691	T	0.90391	0.66280	D	0.19918197	0.41847	0.1862546	0.41787	0.19918197	0.41847	0.1862546	0.41786	-8.788	0.66322	D	.	.	0.194	0.41511	B	.;.	.;.	4.666995	0.74550	26.2	0.99908491774259456	0.97875	0.44706	0.27377	N	AEFDGBI	0.288410	0.40031	N	0.309649060448982	0.56643	3.829295	0.208976877989693	0.50345	3.22753	0.999999733710105	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.68	3.68	0.41359	0.676000	0.24927	1.745000	0.28430	0.577000	0.29297	0.306000	0.25378	0.921000	0.28324	0.299000	0.24476	0.0:1.0:0.0:0.0	11.692	0.50783	534	0.73357	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009615	0.000000	0.009511	0.005952	0.000000	0.008621	0.009202	0.018939	0.1	2580.12	42	chr11	64349373	.	C	T	2580.12	.	AC=2;AF=0.1;AN=20;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.54;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,58:58:99:1|1:64349371_A_C:2603,175,0:64349371	9	1	0	0
chr11	64352209	64352209	C	T	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon19:c.C3179T:p.A1060V	.	417	1026	75	4	0	83	0.0388759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	.	0.0069	0.00798722	0.0113	0.0017	0.0027	0.0001	0.0031	0.0093	0.0241	0.0396	0.009366	1448	154602	rs148331635	0.0095	0.0095	0.0085	0.0106	0.0373	0.0094	0.0093	0.0362	0.0357	0.0011	0.0029	0.0024	7.638e-05	0.0028	0.0172	0.0087	0.0090	0.0373	0.0062	0.0062	0.0059	0.0065	0.0328	0.0059	0.0058	0.0286	0.0270	0.0013	0.0253	0.0039	0.0026	0.0002	0.0014	0.0068	0.0089	0.0066	0.0328	1.0	0.00964	T	0.235	0.44501	T	0.99	0.63424	D	0.824	0.59271	P	.	.	.	.	0.992665	0.41708	D	1.67	0.42885	L	1.79	0.48142	T	-1.27	0.31981	N	0.425	0.46462	-0.9354	0.43333	T	0.145	0.46805	T	9	0.0042512417	0.00085	T	.	.	.	0.138	0.37187	.	.	0.383921772103	0.37999	0.14051853398084002	0.13974	0.908464596018	0.70945	0.590660095215	0.51587	T	0.001801	0.01223	T	-0.45454	0.01062	T	-0.399232	0.33472	T	0.0128007701019311	0.00218	T	0.827517	0.49142	T	0.09841398	0.23212	0.08995448	0.21065	0.09841398	0.23211	0.08995448	0.21065	-5.196	0.38901	T	.	.	0.203	0.42806	B	.;.	.;.	3.373430	0.46632	22.3	0.93095668118017671	0.22722	0.36718	0.25598	N	AEFDGBCI	0.187824	0.31511	N	-0.0743069484477291	0.38522	2.257493	-0.193573536744565	0.31772	1.801206	0.999998714846914	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	0.279000	0.18532	5.827000	0.50131	0.519000	0.23678	0.002000	0.15269	1.000000	0.68203	0.001000	0.02609	0.0:1.0:0.0:0.0	13.511	0.60969	461	0.78683	.;.	.	.	.	.	rs148331635	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018274	0.005208	0.010870	0.008772	0.100000	0.000000	0.037037	0.038168	0.05	810.43	34	chr11	64352209	.	C	T	810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.845;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=-0.25;SOR=0.671	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1239	9	0	1	0
chr11	64642724	64642724	G	A	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138734:exon1:c.C80T:p.P27L	.	365	1155	2	0	0	2	0.000865052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	.	0.0018	0.00539137	0.0017	0.0109	0.0108	0	0	0.0009	0.0141	0	0.0008021	124	154602	rs4373928	0.0010	0.0010	0.0011	0.0010	0.0107	0.0010	0.0010	0.0096	0.0092	0.0107	0.0033	0.0023	0	0.0001	0.0039	0.0007	0.0025	4.442e-05	0.0035	0.0035	0.0039	0.0031	0.0093	0.0032	0.0031	0.0085	0.0082	0.0093	0	0.0041	0.0026	0	0	0.0137	0.0008	0.0081	0	1.0	0.00964	T	0.0	0.92824	D	0.428	0.35540	B	0.009	0.14300	B	.	.	.	.	0.988388	0.40754	D	0	0.06538	N	-2.28	0.87512	D	-0.76	0.21215	N	0.314	0.35408	-0.7794	0.56337	T	0.274	0.64566	T	9	0.004691571	0.00099	T	.	.	.	0.233	0.53499	.	.	0.102598925029	0.09809	.	.	.	.	.	.	.	0.059122	0.31030	T	-0.379788	0.03126	T	-0.308921	0.43776	T	0.00652812021629387	0.00073	T	0.411659	0.10685	T	.	.	.	.	.	.	.	.	-6.61	0.51130	T	.	.	0.097	0.15609	B	.	.	0.943078	0.13190	9.689	0.97012215002322533	0.31989	0.02987	0.07842	N	AEFDBI	0.064142	0.12438	N	-0.908558035888186	0.10641	0.5094678	-0.962682231317076	0.10631	0.5366021	0.998475068100888	0.37033	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	1.14	-0.0892	0.13005	0.232000	0.17670	0.710000	0.20927	0.220000	0.18069	0.049000	0.21372	0.304000	0.24236	0.095000	0.18041	0.0:0.0:0.596:0.404	4.087	0.09429	438	0.80235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016685	0.070588	0.021429	0.009554	0.000000	0.000000	0.009868	0.004000	0.05	84.43	15	chr11	64642724	.	G	A	84.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=147;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.44;ReadPosRankSum=-0.755;SOR=1.609	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,316	9	0	1	0
chr11	64895014	64895014	C	T	exonic	ATG2A	.	nonsynonymous SNV	ATG2A:NM_001367971:exon41:c.G5752A:p.D1918N,ATG2A:NM_001367972:exon41:c.G5758A:p.D1920N,ATG2A:NM_015104:exon41:c.G5776A:p.D1926N	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0305586077748	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467890229	4.792e-06	4.788e-06	2.724e-06	6.881e-06	1.16e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	1.16e-05	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.006	0.70582	D	0.99	0.63424	D	0.87	0.61806	P	0.000149	0.49130	D	0.133121	0.999147	0.46174	D	1.445	0.36358	L	3.06	0.08634	T	-2.68	0.57275	D	0.357	0.39861	-0.8791	0.49833	T	0.195	0.54942	T	10	0.22546789	0.39377	T	0.030559	0.52842	D	0.146	0.38789	0.513	0.61153	0.255117706274	0.25116	0.7666698578743864	0.76615	1.17859640205	0.79955	0.46674489975	0.34234	T	0.115551	0.43422	T	-0.280652	0.10599	T	-0.625427	0.10764	T	0.957094848155975	0.64922	D	0.943806	0.79443	D	0.32760635	0.55275	0.2609125	0.51862	0.32760635	0.55275	0.2609125	0.51861	-5.206	0.39003	T	.	.	0.231	0.54228	B	.;.	.;.	4.383477	0.67590	25.1	0.99891590758390425	0.96589	0.91884	0.54472	D	AEFGBCI	0.646505	0.62202	D	0.131850472001789	0.47952	3.013974	0.157738393009746	0.47553	2.98386	0.999999971340496	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.99	3.03	0.34070	5.786000	0.68654	5.852000	0.50347	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.8129:0.1871:0.0	11.273	0.48384	257	0.89904	Autophagy-related, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1005.12	35	chr11	64895014	.	C	T	1005.12	.	AC=2;AF=0.1;AN=20;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.72;SOR=0.869	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1028,104,0	9	1	0	0
chr11	64938557	64938557	G	A	exonic	MAJIN	.	stopgain	MAJIN:NM_001300803:exon9:c.C499T:p.R167X,MAJIN:NM_001318808:exon12:c.C415T:p.R139X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0.0052	0	0	0	0.0001	2.59e-05	4	154602	rs531700220	4.987e-05	4.72e-05	4.994e-05	4.98e-05	0.0016	4.008e-05	3.672e-05	0.0012	0.0011	3.166e-05	2.801e-05	0	0.0016	0	0	7.416e-06	3.456e-05	1.262e-05	9.196e-05	9.188e-05	7.712e-05	0.0001	0.0015	5.526e-05	4.364e-05	0.0008	0.0006	7.222e-05	0	0.0001	0	0.0015	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.986191	0.24640	N	.	.	.	.	.	.	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.60982	0.00127	T	-0.649022	0.09022	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808121	0.11788	8.362	0.98297873474622688	0.40011	0.03370	0.08468	N	AEFBI	0.063156	0.12184	N	-0.608062018916524	0.18700	0.9730276	-0.698236104823988	0.17004	0.9022244	0.121560169648986	0.16894	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.72	0.368	0.15378	0.070000	0.14440	1.683000	0.28024	0.676000	0.76740	0.005000	0.17040	0.660000	0.26011	0.452000	0.27939	0.0982:0.0:0.3825:0.5193	5.457	0.15890	386	0.83455	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	677.43	70	chr11	64938557	.	G	A	677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.776;DP=380;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=2.37;SOR=0.818	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,935	9	0	1	0
chr11	65021808	65021808	G	A	exonic	ARL2	.	nonsynonymous SNV	ARL2:NM_001199745:exon4:c.G427A:p.D143N,ARL2:NM_001667:exon5:c.G508A:p.D170N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.262	0.0779550836376	.	0.000199681	1.661e-05	9.722e-05	8.678e-05	0	0	0	0	0	3.84e-05	1	26028	rs200574613	3.217e-05	3.283e-05	3.541e-05	2.889e-05	5.974e-05	2.479e-05	2.221e-05	2.626e-05	2.305e-05	5.974e-05	4.473e-05	3.827e-05	0	0	0	3.507e-05	3.312e-05	1.159e-05	6.567e-05	6.562e-05	7.709e-05	5.372e-05	0.0002	3.514e-05	2.615e-05	6.269e-05	4.29e-05	0.0001	0	0.0002	0	0	0	0	1.47e-05	0	0	0.299	0.14546	T	0.217	0.26145	T	0.014	0.16867	B	0.022	0.19653	B	0.000259	0.46924	U	0.149281	1	0.81001	D	1.72	0.44442	L	-0.1	0.82347	T	-3.16	0.65512	D	0.639	0.69737	-0.2170	0.77231	T	0.473	0.79774	T	10	0.48319083	0.60553	T	0.077955	0.72891	D	0.262	0.57482	.	.	0.799559620043	0.79768	0.6369421274755466	0.63628	0.286882814568	0.31084	0.50641477108	0.39722	T	0.13651	0.46893	T	-0.114668	0.33998	T	-0.226642	0.52096	T	0.281321250294405	0.24227	T	0.982102	0.93912	D	0.3746632	0.58927	0.2454198	0.50030	0.3746632	0.58927	0.2454198	0.50029	-5.452	0.42250	T	.	.	0.155	0.38871	B	.;.;.	.;.;.	3.909159	0.56999	23.8	0.99704584085810866	0.80867	0.98449	0.82893	D	AEFDBI	0.907581	0.86178	D	0.138899073187791	0.48286	3.042871	0.265694956357251	0.53548	3.52311	0.999999999970995	0.74766	0.744818	0.98587	0	0.724815	0.89359	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	4.5	4.5	0.54382	9.486000	0.96912	11.547000	0.93161	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	14.747	0.69114	329	0.86514	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3423.12	36	chr11	65021808	.	G	A	3423.12	.	AC=2;AF=0.1;AN=20;DP=466;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.01;SOR=1.085	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1181	9	1	0	0
chr11	65172786	65172786	C	T	exonic	SPDYC	.	nonsynonymous SNV	SPDYC:NM_001008778:exon6:c.C619T:p.R207W	.	412	1086	23	1	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0007	0.00459265	0.0044	0.0002	0.0002	0	0	0.0009	0.0066	0.0279	0.0037968	587	154602	rs149911369	0.0022	0.0022	0.0014	0.0030	0.0267	0.0021	0.0021	0.0258	0.0255	8.961e-05	0.0002	0.0006	2.519e-05	0.0001	0.0111	0.0006	0.0021	0.0267	0.0015	0.0015	0.0012	0.0019	0.0262	0.0014	0.0013	0.0224	0.0210	0.0001	0.0253	0.0009	0.0003	0	9.409e-05	0.0034	0.0009	0.0014	0.0262	0.007	0.59928	D	0.099	0.38891	T	0.428	0.35540	B	0.054	0.25828	B	0.151483	0.17953	N	0.426269	1	0.08975	N	2.14	0.59869	M	.	.	.	-5.78	0.87988	D	0.425	0.46462	-1.0856	0.06298	T	0.048	0.20315	T	9	0.0054340363	0.00120	T	.	.	.	0.115	0.32236	.	.	0.0138822411134	0.00435	0.5131026573056315	0.51232	0.605002519522	0.55411	0.463276922703	0.33760	T	0.29755	0.67014	T	-0.391484	0.02631	T	-0.314167	0.43211	T	0.133441322623025	0.15696	T	0.842916	0.51943	T	0.11537144	0.27226	0.13916165	0.33212	0.11537144	0.27225	0.13916165	0.33211	-3.978	0.23473	T	.	.	0.159	0.35140	B	.	.	2.075615	0.26395	17.10	0.99795229772460403	0.88017	0.15507	0.18946	N	AEFDBHCI	0.133055	0.25258	N	-0.794925115796787	0.13441	0.6621973	-0.86613044335967	0.12900	0.6662648	0.529622566827932	0.21165	0.65861	0.49226	0	0.547309	0.14657	0	0.725225	0.93170	0	0.613276	0.41899	0	.	.	5.5	-1.57	0.08055	0.060000	0.14220	-1.064000	0.06442	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.374000	0.26200	0.4467:0.3164:0.2369:0.0	9.662	0.39125	411	0.82069	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1788.43	34	chr11	65172786	.	C	T	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=439;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.391;SOR=0.849	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1460	9	0	1	0
chr11	65357013	65357013	A	G	exonic	TIGD3	.	nonsynonymous SNV	TIGD3:NM_145719:exon2:c.A1205G:p.E402G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0118198401927	.	0.000199681	4.123e-05	0	0	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs563208960	3.078e-05	3.078e-05	1.634e-05	4.538e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0004	0	0	0	0	0	0	0	0	0.0005	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.036	0.43393	D	0.015	0.61642	D	0.455	0.36245	P	0.099	0.30579	B	.	.	.	.	0.987029	0.24559	N	1.935	0.51832	L	2.2	0.18570	T	-1.74	0.41239	N	0.108	0.09349	-1.0572	0.12465	T	0.034	0.14509	T	9	0.04383129	0.03274	T	0.01182	0.29821	T	0.054	0.15330	0.177	0.08379	0.379881503574	0.37595	0.27561634812381913	0.27474	0.451291634778	0.44877	0.377557873726	0.21909	T	0.012646	0.11078	T	-0.360443	0.04105	T	-0.45098	0.27589	T	0.109315540322051	0.13352	T	0.536546	0.18022	T	0.11068053	0.26160	0.15917616	0.37136	0.11068053	0.26160	0.15917616	0.37135	-3.93	0.22753	T	.	.	0.070	0.03407	B	.	.	1.857241	0.23593	16.08	0.96597423612718536	0.30394	0.43475	0.27106	N	AEFDBI	0.093167	0.18855	N	-0.369998237514702	0.26543	1.449467	-0.33897025269862	0.26852	1.48594	0.999986140623527	0.51787	0.625279	0.40028	0	0.588066	0.40923	0	0.687403	0.62504	0	0.63947	0.58350	0	.	.	3.83	3.83	0.43287	1.748000	0.37935	3.970000	0.40818	0.756000	0.94297	0.979000	0.35152	0.999000	0.35428	0.502000	0.29062	1.0:0.0:0.0:0.0	9.598	0.38752	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1173.43	36	chr11	65357013	.	A	G	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.932;DP=410;ExcessHet=0;FS=3.778;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.06;SOR=0.487	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr11	65379444	65379444	C	T	exonic	SLC25A45	.	nonsynonymous SNV	SLC25A45:NM_001278250:exon3:c.G199A:p.E67K,SLC25A45:NM_001077241:exon4:c.G145A:p.E49K,SLC25A45:NM_001352381:exon4:c.G271A:p.E91K,SLC25A45:NM_001352382:exon5:c.G145A:p.E49K,SLC25A45:NM_182556:exon5:c.G271A:p.E91K,SLC25A45:NM_001278251:exon8:c.G145A:p.E49K	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0644417284628	8.1e-05	0.000399361	0.0002	0	0	0.0002	0	0.0003	0	0	0.0001423	22	154602	rs368628188	4.379e-05	4.378e-05	4.085e-05	4.676e-05	0.0001	3.509e-05	3.193e-05	4.907e-05	3.371e-05	0	2.237e-05	0	0.0001	0	0	4.766e-05	8.279e-05	0	2.625e-05	2.624e-05	1.284e-05	4.027e-05	0.0004	8.14e-06	5.14e-06	6.82e-05	2.855e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0	0.107	0.39097	T	0.6	0.17425	T	0.129	0.27048	B	0.045	0.34106	B	0.128102	0.18743	N	0.542615	0.767131	0.81001	D	1.15	0.29295	L	-1.13	0.77719	T	-1.4	0.37178	N	0.317	0.36884	-0.7418	0.58360	T	0.242	0.61060	T	10	0.034680873	0.01686	T	0.064442	0.69278	D	0.135	0.36572	.	.	0.156986980423	0.15292	0.34782442305631417	0.34696	0.235738177171	0.26110	0.382041633129	0.22546	T	0.006294	0.05726	T	-0.230862	0.16535	T	-0.304966	0.44198	T	0.0363433120910918	0.03040	T	0.869013	0.57273	D	0.067124784	0.14508	0.07486147	0.16422	0.067124784	0.14508	0.07486147	0.16422	-8.195	0.62392	D	.	.	0.142	0.35788	B	.;.;.;.;.	.;.;.;.;.	1.876521	0.23837	16.17	0.99185348382693972	0.54819	0.84472	0.43554	D	AEFDBI	0.351423	0.44453	N	-0.493575738412436	0.22291	1.189214	-0.381730130697409	0.25542	1.405273	0.999776226083396	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.66	2.6	0.30173	0.357000	0.19935	1.336000	0.25703	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.214000	0.22296	0.0:0.5656:0.4344:0.0	10.431	0.43595	274	0.89249	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2197.43	36	chr11	65379444	.	C	T	2197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.825;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.157;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1261	9	0	1	0
chr11	65581613	65581613	G	A	exonic	EHBP1L1	.	nonsynonymous SNV	EHBP1L1:NM_001099409:exon9:c.G941A:p.R314Q	.	412	1108	2	0	0	2	0.000901713	.	.	.	2456328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0543514010661	.	0.000199681	5.887e-05	0.0005	0	0	0	0	0	0	1.29e-05	2	154602	rs558905922	4.338e-06	1.094e-05	2.85e-06	5.871e-06	0.0002	1.56e-06	1.03e-06	7.5e-07	2.1e-07	0	0	0	0	2.1e-05	0.0002	2.798e-06	0	1.301e-05	1.972e-05	1.969e-05	1.286e-05	2.688e-05	2.41e-05	5.24e-06	2.45e-06	.	.	2.41e-05	0	0	0	0	0.0002	0	0	0	0	0.393	0.10730	T	0.486	0.11691	T	0.029	0.19866	B	0.004	0.10090	B	0.280192	0.03828	N	1.571070	1	0.08975	N	-0.805	0.01590	N	-0.08	0.80899	T	-0.06	0.11913	N	0.046	0.01825	-0.9396	0.42679	T	0.244	0.61260	T	10	0.019987911	0.00453	T	0.054351	0.65824	D	0.055	0.15663	0.228	0.15406	0.629465430942	0.62643	0.20891649418216485	0.20807	0.0394025722871	0.04204	0.250023066998	0.03770	T	1.4E-4	0.03748	T	-0.201399	0.20602	T	-0.527072	0.19580	T	0.0200177097397474	0.00702	T	0.720728	0.33361	T	0.025077661	0.01405	0.02777728	0.00957	0.025077661	0.01404	0.02777728	0.00957	-3.448	0.15711	T	.	.	0.071	0.06159	B	.;.	.;.	1.396249	0.18099	13.55	0.97723921832346428	0.35573	0.01910	0.05847	N	AEFBI	0.063476	0.12268	N	-0.969110810937911	0.09268	0.4379587	-0.982936965964584	0.10168	0.5104321	0.99250150003097	0.32863	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.13	-1.77	0.07551	-0.022000	0.12424	0.369000	0.17657	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.697000	0.34049	0.2239:0.3214:0.2912:0.1634	1.075	0.01527	280	0.88949	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	973.43	42	chr11	65581613	.	G	A	973.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.48;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.107;SOR=0.784	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1221	9	0	1	0
chr11	65619571	65619571	C	A	exonic	PCNX3	.	nonsynonymous SNV	PCNX3:NM_032223:exon7:c.C1740A:p.S580R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0260204772191	.	.	1.972e-05	0	0	0	0	0	0.0014	6.844e-05	1.94e-05	3	154602	rs768130232	1.098e-05	1.231e-05	8.192e-06	1.38e-05	0.0002	6.5e-06	5.26e-06	0.0001	9.479e-05	0	0	0	0	0	0	0	0	0.0002	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.518	0.07307	T	0.296	0.20615	T	0.995	0.67487	D	0.979	0.74454	D	0.000254	0.46924	D	0.000000	0.993757	0.42042	D	0.57	0.15267	N	4.96	0.01366	T	-0.86	0.23372	N	0.536	0.56403	-0.6188	0.64038	T	0.008	0.02638	T	10	0.393659	0.55071	T	0.02602	0.48957	D	0.149	0.39377	0.223	0.14665	0.632427088915	0.62941	0.3898877724037999	0.38903	.	.	0.552342355251	0.46188	T	0.013292	0.11527	T	-0.262084	0.12658	T	-0.432095	0.29698	T	0.30573595214856	0.25239	T	0.767723	0.39623	T	0.07127647	0.15769	0.0631928	0.12483	0.07127647	0.15768	0.0631928	0.12482	-4.149	0.26009	T	.	.	0.667	0.71619	P	.	.	3.112126	0.41986	21.5	0.99593412049147301	0.73748	0.94678	0.61956	D	AEFGBCI	0.399486	0.47475	N	0.141396916745868	0.48405	3.053185	0.163912540170495	0.47884	3.012009	0.999999918100106	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.82	3.96	0.45097	2.738000	0.47075	1.763000	0.28569	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.8252:0.0:0.1748	8.585	0.32817	275	0.89190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	357.43	35	chr11	65619571	.	C	A	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.022;DP=371;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=-0.219;SOR=0.437	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr11	65636776	65636776	-	CCTCAG	exonic	PCNX3	.	nonframeshift insertion	PCNX3:NM_032223:exon35:c.5903_5904insCCTCAG:p.S1978_P1979insLS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	rs779924412	0.0003	0.0003	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0001	0	0.0004	6.205e-05	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	8.905e-05	0.0001	8.52e-05	9.954e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1047.39	34	chr11	65636776	.	A	ACCTCAG	1047.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.82;DP=396;ExcessHet=0;FS=3.524;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.333;SOR=0.883	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1071	9	0	1	0
chr11	65641112	65641112	C	T	exonic	SIPA1	.	nonsynonymous SNV	SIPA1:NM_006747:exon2:c.C191T:p.T64M,SIPA1:NM_153253:exon2:c.C191T:p.T64M	.	410	1106	6	0	0	6	0.00270514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.556506037117	0.0006	0.000798722	0.0009	0.0003	0.0005	0	0.0009	0.0011	0.0014	0.0014	0.0007633	118	154602	rs200828887	0.0007	0.0007	0.0007	0.0007	0.0050	0.0007	0.0007	0.0036	0.0031	0.0002	0.0004	0.0002	0	0.0004	0.0050	0.0007	0.0010	0.0008	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0007	0.0007	0.0004	0	0.0001	0	0	0.0002	0.0102	0.0009	0.0009	0.0010	0.005	0.63226	D	0.013	0.63109	D	0.798	0.47902	P	0.197	0.43183	B	0.253200	0.15466	U	0.428407	1	0.08975	N	1.79	0.46772	L	-1.61	0.82254	D	-1.47	0.79829	N	0.262	0.31702	-0.3300	0.74133	T	0.464	0.79290	T	10	0.051036388	0.04923	T	0.556506	0.95933	D	0.238	0.54217	.	.	0.845282700075	0.84380	0.3157718032726202	0.31490	0.902148392747	0.70677	0.816763341427	0.84532	D	0.125064	0.45051	T	-0.255413	0.13442	T	-0.200258	0.54622	T	0.0148980658144745	0.00317	T	0.677032	0.28590	T	0.05558332	0.10820	0.07435434	0.16256	0.05558332	0.10820	0.07435434	0.16256	-6.257	0.48381	T	.	.	0.102	0.21653	B	.;.;.;.	.;.;.;.	3.772668	0.54193	23.5	0.99471782627480054	0.66365	0.17463	0.19848	N	AEFDGBCI	0.301580	0.41006	N	0.11061042244404	0.46958	2.928272	0.105169481324792	0.44812	2.755814	0.99999999637473	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.38	5.38	0.77279	0.679000	0.24971	1.378000	0.26011	0.599000	0.40250	0.001000	0.13787	0.002000	0.18203	0.986000	0.61781	0.0:1.0:0.0:0.0	14.608	0.68093	274	0.89249	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006061	0.005155	0.005450	0.005882	0.000000	0.000000	0.015244	0.000000	0.05	1052.43	57	chr11	65641112	.	C	T	1052.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=379;ExcessHet=0;FS=2.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=0.394;SOR=0.404	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,941	9	0	1	0
chr11	65883578	65883578	A	G	exonic	CTSW	.	nonsynonymous SNV	CTSW:NM_001335:exon10:c.A1091G:p.Q364R	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0120264144154	.	.	8.241e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs766856912	8.209e-06	8.209e-06	5.445e-06	1.1e-05	0.0002	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	5.396e-06	0	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0.0005	0	0.409	0.10180	T	0.62	0.07444	T	0.0	0.02946	B	0.004	0.10090	B	0.861328	0.07118	N	1.069360	1	0.08975	N	-0.265	0.03777	N	-0.72	0.72994	T	-0.94	0.25118	N	0.194	0.21319	-1.0330	0.19490	T	0.132	0.44327	T	10	0.05109912	0.04941	T	0.012026	0.30231	T	0.053	0.14996	0.23	0.15705	0.341460817117	0.33762	0.3034060891052582	0.30253	0.0643675075442	0.07174	0.278282552958	0.07254	T	0.151552	0.49155	T	-0.388176	0.02764	T	-0.613836	0.11675	T	0.0286064324909539	0.01777	T	0.441056	0.12198	T	0.034077212	0.03755	0.04235452	0.05024	0.034077212	0.03755	0.04235452	0.05024	-2.741	0.07654	T	.	.	0.090	0.12465	B	.	.	-0.502138	0.01860	0.150	0.69230435824974423	0.08906	0.03709	0.08993	N	AEFGBI	0.069804	0.13833	N	-1.26829941091659	0.04063	0.1826888	-1.32275059346017	0.04137	0.1945214	0.999944604320553	0.47345	0.460665	0.09802	0	0.577304	0.33150	0	0.572659	0.19721	0	0.491896	0.07777	0	.	.	3.78	-2.67	0.05703	-0.271000	0.08603	-6.065000	0.01507	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3991:0.1812:0.4197:0.0	4.985	0.13531	239	0.90673	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	945.43	36	chr11	65883578	.	A	G	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=410;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=-0.838;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	9	0	1	0
chr11	65962042	65962042	C	G	exonic	SART1	.	nonsynonymous SNV	SART1:NM_005146:exon1:c.C262G:p.P88A	.	378	1101	40	3	0	46	0.0204626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0014	0.00319489	0.0170	0.0030	0.0357	0	.	0.0221	0	0.0162	0.0016235	251	154602	rs200247501	0.0061	0.0058	0.0058	0.0065	0.0165	0.0060	0.0060	0.0157	0.0154	0.0009	0.0022	0.0224	0	0.0009	0.0139	0.0056	0.0067	0.0165	0.0044	0.0044	0.0046	0.0041	0.0147	0.0041	0.0040	0.0120	0.0110	0.0011	0	0.0026	0.0286	0	0.0007	0.0068	0.0057	0.0067	0.0147	0.033	0.44358	D	0.708	0.05563	T	0.557	0.38282	P	0.31	0.41396	B	0.000043	0.53742	D	0.074589	0.78246	0.34284	D	0.345	0.11182	N	1.88	0.23884	T	-1.47	0.35991	N	0.147	0.14905	-0.9705	0.37094	T	0.059	0.24612	T	10	0.0041353405	0.00081	T	.	.	.	0.096	0.27654	.	.	0.394236971158	0.39037	0.16397195523323133	0.16317	1.36751619527	0.84468	0.82925593853	0.86448	D	0.018581	0.14954	T	-0.475857	0.00782	T	-0.443988	0.28361	T	0.0257445643164212	0.01371	T	0.693931	0.30359	T	0.1616277	0.36185	0.08255757	0.18852	0.1616277	0.36185	0.08255757	0.18852	-3.592	0.17742	T	.	.	0.051	0.00187	B	.	.	2.156030	0.27469	17.47	0.99168744947273746	0.54326	0.39653	0.26261	N	AEFDGBHCI	0.055179	0.10095	N	-0.101039697550983	0.37347	2.171556	-0.0787453825877827	0.36269	2.108645	0.999999999991621	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.12	3.19	0.35720	0.448000	0.21443	0.618000	0.20101	0.524000	0.24156	0.995000	0.38783	0.998000	0.33993	0.986000	0.61781	0.2209:0.7791:0.0:0.0	8.988	0.35169	229	0.91079	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015652	0.000000	0.003289	0.008000	0.000000	0.016667	0.024752	0.033333	0.1	828.12	16	chr11	65962042	.	C	G	828.12	.	AC=2;AF=0.1;AN=20;DP=189;ExcessHet=0;FS=0;InbreedingCoeff=0.9994;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.67;SOR=1.302	GT:AD:DP:GQ:PL	0/0:14,0:14:33:0,33,495	9	1	0	0
chr11	66057350	66057350	C	T	exonic	SF3B2	.	nonsynonymous SNV	SF3B2:NM_006842:exon7:c.C752T:p.P251L	.	429	1089	3	1	0	5	0.00229043	.	.	.	2343773	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0140342214616	0.0008	0.000599042	0.0006	0.0001	8.693e-05	0	0.0002	0.0010	0.0023	0.0004	0.0006209	96	154602	rs77713633	0.0010	0.0010	0.0009	0.0010	0.0012	0.0009	0.0009	0.0012	0.0011	3.135e-05	0.0001	0	0	0.0002	0.0007	0.0012	0.0005	0.0003	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0008	2.407e-05	0	0.0003	0	0	9.416e-05	0	0.0010	0.0005	0.0004	0.002	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.62929	N	0.100915	0.999999	0.58761	D	1.955	0.52871	M	.	.	.	-2.85	0.82063	D	0.372	0.42443	-0.9836	0.34164	T	0.112	0.40168	T	9	0.026429206	0.00809	T	0.014034	0.33868	T	0.122	0.33800	.	.	0.200294437569	0.19612	0.46770466573389025	0.46689	1.3404268339	0.83837	0.828810095787	0.86381	D	0.067276	0.70570	T	-0.345679	0.05005	T	-0.309854	0.43674	T	0.0796342304410416	0.09939	T	0.862114	0.58386	D	0.17338952	0.38084	0.19508399	0.43167	0.17338952	0.38083	0.19508399	0.43166	-4.634	0.32596	T	.	.	0.258	0.72128	B	.;.;.;.;.	.;.;.;.;.	3.534010	0.49602	22.8	0.96499044590636562	0.30037	0.95561	0.65212	D	AEFBI	0.253269	0.37280	N	-0.313809196513544	0.28622	1.580285	-0.188496459163862	0.31958	1.813531	0.999880827385902	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	3.228000	0.50971	3.965000	0.40779	0.599000	0.40250	0.981000	0.35396	0.999000	0.35428	0.972000	0.54974	0.1708:0.7406:0.0:0.0886	7.053	0.24260	199	0.92292	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	763.43	35	chr11	66057350	.	C	T	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=385;ExcessHet=0;FS=3.234;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.39;SOR=1.121	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	66294475	66294475	G	A	exonic	TMEM151A	.	nonsynonymous SNV	TMEM151A:NM_153266:exon2:c.G229A:p.A77T	.	422	1075	24	1	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0159965288774	0.0012	0.000399361	0.0017	0.0001	0.0022	0	0.0004	0.0025	0.0029	0.0006	0.001313	203	154602	rs202127682	0.0014	0.0014	0.0013	0.0015	0.0085	0.0013	0.0013	0.0066	0.0060	0.0002	0.0019	0.0069	0	7.755e-05	0.0085	0.0014	0.0020	0.0005	0.0012	0.0012	0.0014	0.0010	0.0015	0.0010	0.0010	0.0013	0.0012	0.0002	0	0.0014	0.0078	0	0.0002	0.0137	0.0015	0.0047	0.0006	0.599	0.05652	T	0.484	0.11760	T	0.201	0.29693	B	0.021	0.19346	B	0.001876	0.37789	N	0.164918	0.988732	0.40818	D	0.895	0.22405	L	.	.	.	0.7	0.02163	N	0.158	0.16447	-1.0893	0.05650	T	0.060	0.25200	T	9	0.006064296	0.00136	T	0.015997	0.37036	T	0.094	0.27141	.	.	0.043077524339	0.03247	0.5628537279553625	0.56212	.	.	0.697946429253	0.66848	T	0.002676	0.02065	T	-0.466581	0.00893	T	-0.449155	0.27790	T	0.00303895006801984	0.00032	T	0.533947	0.17813	T	0.02264007	0.00941	0.055863645	0.09879	0.02264007	0.00941	0.055863645	0.09878	-5.773	0.44338	T	.	.	0.083	0.09143	B	.	.	2.899794	0.38433	20.7	0.81313325403504977	0.13624	0.98346	0.81852	D	AEFDGBI	0.555136	0.56570	D	-0.594696526936147	0.19104	0.997296	-0.51024337533845	0.21875	1.185445	0.999983762213022	0.51787	0.700653	0.57754	0	0.59043	0.45803	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.69	2.83	0.32150	3.955000	0.56422	9.198000	0.79167	-0.137000	0.12594	1.000000	0.71638	1.000000	0.68203	0.141000	0.19983	0.1709:0.0:0.8291:0.0	9.795	0.39898	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005556	0.000000	0.004087	0.011696	0.000000	0.008772	0.012270	0.000000	0.05	1048.43	34	chr11	66294475	.	G	A	1048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.94;SOR=0.63	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1058	9	0	1	0
chr11	66347097	66347097	C	A	exonic	B4GAT1	.	nonsynonymous SNV	B4GAT1:NM_006876:exon1:c.G449T:p.R150L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0135425223125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.061	0.45530	T	0.842	0.46562	P	0.259	0.39405	B	0.000002	0.62929	D	0.059287	0.999977	0.53665	D	.	.	.	1.8	0.25344	T	-4.24	0.76015	D	0.745	0.74462	-1.0897	0.05582	T	0.064	0.26527	T	10	0.7658887	0.76700	D	0.013543	0.33021	T	0.128	0.35103	0.611	0.74418	0.146414634003	0.14194	0.9490011083754798	0.94883	1.75885429192	0.91093	0.652331769466	0.60317	T	0.746525	0.93020	D	-0.0462999	0.45006	T	-0.304283	0.44270	T	0.994312286376953	0.85531	D	0.826617	0.49005	T	0.5038839	0.67322	0.4324337	0.66829	0.5038839	0.67323	0.4324337	0.66829	-4.919	0.35948	T	0.3120649211330865	0.40996	0.218	0.44872	B	.	.	4.539764	0.71347	25.7	0.99544454764462187	0.70711	0.79558	0.39446	D	AEFDGBHCI	0.670733	0.63772	D	0.378334577271425	0.60250	4.211875	0.438888725742842	0.64006	4.646262	0.999999999873221	0.74766	0.766844	0.99359	0	0.587265	0.34161	0	0.851219	0.99655	0	0.627883	0.49187	0	.	.	5.48	5.48	0.80675	4.302000	0.58887	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9099:0.0:0.0901	10.320	0.42944	62	0.97349	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3973.12	33	chr11	66347097	.	C	A	3973.12	.	AC=2;AF=0.1;AN=20;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.52;SOR=0.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1530:.	9	1	0	0
chr11	66424862	66424862	G	A	exonic	NPAS4	.	nonsynonymous SNV	NPAS4:NM_001318804:exon6:c.G1342A:p.G448R,NPAS4:NM_178864:exon7:c.G1972A:p.G658R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0136440661788	0.0002	0.000399361	0.0004	9.829e-05	0	0	0	1.523e-05	0.0011	0.0030	0.0003493	54	154602	rs367622005	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0.0001	2.247e-05	0	2.519e-05	0	0.0002	4.499e-06	9.946e-05	0.0035	0.0002	0.0002	0.0001	0.0002	0.0037	0.0001	8.711e-05	0.0024	0.0020	7.216e-05	0	0	0	0	0	0	2.94e-05	0	0.0037	0.001	0.78490	D	0.209	0.26798	T	1.0	0.90584	D	0.927	0.66185	D	0.001225	0.39743	N	0.114773	0.999192	0.21520	N	1.1	0.28011	L	0.88	0.46028	T	-0.67	0.19297	N	0.557	0.58202	-1.0481	0.14932	T	0.114	0.40627	T	10	0.02031669	0.00466	T	0.013644	0.33196	T	0.177	0.44549	0.095	0.01241	0.639847762547	0.63687	0.5123340132460276	0.51155	0.393275633366	0.40503	0.577464282513	0.49729	T	0.131742	0.46141	T	-0.421641	0.01670	T	-0.382112	0.35475	T	0.0784853886198912	0.09792	T	0.816518	0.47234	T	0.15880162	0.35706	0.17035459	0.39137	0.15880162	0.35706	0.17035459	0.39137	-6.176	0.47728	T	.	.	0.114	0.22789	B	.	.	3.677850	0.52329	23.2	0.99855031823936624	0.93368	0.24297	0.22349	N	AEFDGBI	0.062333	0.11976	N	0.22006350679832	0.52172	3.393106	0.173108387041882	0.48379	3.054579	0.542160950502046	0.21262	0.554377	0.28877	0	0.588066	0.40923	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	3.83	3.83	0.43287	3.084000	0.49841	7.983000	0.76082	0.676000	0.76740	0.992000	0.37556	1.000000	0.68203	0.727000	0.35000	0.0:0.0:0.7802:0.2198	9.022	0.35366	55	0.97548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1698.43	34	chr11	66424862	.	G	A	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.538;DP=439;ExcessHet=0;FS=1.412;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.825;SOR=0.56	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1006	9	0	1	0
chr11	66605547	66605547	G	C	exonic	CCS	.	nonsynonymous SNV	CCS:NM_005125:exon7:c.G626C:p.R209P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0164286734213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.51248	T	0.075	0.66756	T	0.008	0.14655	B	0.016	0.17743	B	0.043371	0.23745	N	0.455201	0.966811	0.42266	D	1.93	0.51437	L	0.9	0.45248	T	-3.28	0.71762	D	0.799	0.79503	-1.0640	0.10784	T	0.100	0.37085	T	10	0.3346696	0.50637	T	0.016429	0.37682	T	0.285	0.60338	0.542	0.65446	0.389750110748	0.38591	0.7616382110732172	0.76111	0.870047324024	0.69367	0.303997933865	0.11000	T	0.911946	0.98349	D	0.0248069	0.55028	T	-0.202143	0.54443	T	0.830819964408875	0.48594	D	0.966303	0.87634	D	0.7744647	0.82316	0.6041323	0.76992	0.7744647	0.82318	0.6041323	0.76993	-13.765	0.92268	D	.	.	0.771	0.75975	P	.;.;.	.;.;.	1.991720	0.25307	16.71	0.98542189529667457	0.42732	0.62518	0.31805	D	AEFBI	0.754458	0.69432	D	-0.746428856755476	0.14730	0.7362663	-0.767347362463505	0.15297	0.8037877	0.999575331014336	0.40495	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.84	-1.8	0.07480	1.256000	0.32524	-1.056000	0.06467	-0.113000	0.14837	0.790000	0.29595	0.000000	0.08366	0.506000	0.29152	0.4952:0.0:0.3835:0.1213	6.321	0.20424	62	0.97349	Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain;Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain|Superoxide dismutase, copper/zinc binding domain;Superoxide dismutase, copper/zinc binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	969.43	33	chr11	66605547	.	G	C	969.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.533;DP=463;ExcessHet=0;FS=3.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.55;ReadPosRankSum=0.039;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	9	0	1	0
chr11	66644055	66644055	G	A	exonic	RBM14-RBM4;RBM4	.	nonsynonymous SNV	RBM14-RBM4:NM_001198845:exon2:c.G943A:p.A315T,RBM4:NM_002896:exon3:c.G1018A:p.A340T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00440103716185	.	.	5.815e-05	0	0	0.0003	0	4.514e-05	0	6.058e-05	4.53e-05	7	154602	rs760916903	1.231e-05	1.3e-05	1.225e-05	1.238e-05	0.0002	7.7e-06	6.35e-06	6.51e-05	4.449e-05	2.987e-05	2.236e-05	0	0.0002	0	0.0002	2.698e-06	1.656e-05	5.797e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.373	0.49613	T	1.0	0.14241	T	0.0	0.02946	B	0.0	0.01387	B	0.003866	0.34390	U	0.241690	0.910085	0.81001	D	0.145	0.08828	N	0.91	0.44856	T	-0.6	0.19297	N	0.391	0.43223	-1.0179	0.24398	T	0.045	0.19356	T	10	0.10428718	0.19217	T	0.004401	0.10749	T	0.163	0.42028	0.305	0.27485	0.507827162178	0.50422	0.5258048253870012	0.62953	0.4343084013	0.43717	.	.	.	0.068459	0.33461	T	-0.286655	0.09974	T	-0.329527	0.41522	T	0.0641913040658554	0.07811	T	0.19958	0.02245	T	0.12259344	0.28804	0.18827988	0.42109	0.12259344	0.28804	0.18827988	0.42108	-4.908	0.35825	T	.	.	0.072	0.10545	B	.;.;.;.;.	.;.;.;.;.	3.604513	0.50925	23.0	0.99762510762401113	0.85172	0.89584	0.50142	D	AEFDBHCI	0.544052	0.55913	D	-0.0508149130959662	0.39565	2.335315	0.176920931945126	0.48586	3.072477	0.999999999642398	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	6.17	6.17	0.99707	2.222000	0.42568	7.641000	0.63200	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8411:0.1589	13.211	0.59251	124	0.95048	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3986.12	39	chr11	66644055	.	G	A	3986.12	.	AC=2;AF=0.1;AN=20;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.87;SOR=0.765	GT:AD:DP:GQ:PL	1/1:0,143:143:99:4009,429,0	9	1	0	0
chr11	66850052	66850052	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon18:c.G2783A:p.R928Q,PC:NM_000920:exon19:c.G2783A:p.R928Q,PC:NM_001040716:exon20:c.G2783A:p.R928Q	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	868365	Pyruvate_carboxylase_deficiency|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0009949,MedGen:C0034341,OMIM:266150,Orphanet:3008|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.580	0.263062718131	.	.	9.946e-05	0	0	0.0001	0	0.0001	0	0.0001	7.76e-05	12	154602	rs755385132	7.733e-05	7.73e-05	7.626e-05	7.841e-05	5.486e-05	6.535e-05	6.138e-05	4.351e-05	3.944e-05	2.987e-05	4.472e-05	0.0014	2.519e-05	0	0	5.486e-05	0.0001	3.478e-05	0.0001	0.0001	7.707e-05	0.0002	0.0004	7.569e-05	6.275e-05	6.818e-05	2.854e-05	4.808e-05	0	6.534e-05	0.0020	0.0004	0	0	8.82e-05	0	0	0.472	0.23813	T	0.311	0.19660	T	0.844	0.46645	P	0.145	0.33871	B	0.000016	0.62929	D	0.112755	0.999999	0.81001	D	2.64	0.77224	M	-1.65	0.95663	D	-0.15	0.09297	N	0.459	0.57263	0.727	0.93511	D	0.798	0.93177	D	10	0.19054034	0.34701	T	0.263063	0.89585	D	0.580	0.83081	.	.	0.677097721695	0.67436	.	.	0.479610596857	0.46993	0.615346312523	0.55070	T	0.016811	0.63332	T	0.134557	0.67802	D	0.15816	0.80693	D	0.0778375294181796	0.09708	T	0.912209	0.68770	D	0.29591817	0.52537	0.19723655	0.43494	0.29591817	0.52536	0.19723655	0.43493	-5.618	0.42956	T	0.1537804285143798	0.18318	.	.	.	.;.;.;.	.;.;.;.	3.578176	0.50435	22.9	0.99860666548353283	0.93911	0.96481	0.69353	D	AEFDGBCI	0.809029	0.73264	D	0.450061728568953	0.64208	4.670066	0.488412338594218	0.67219	5.055021	0.99999999995137	0.74766	0.634777	0.41761	0	0.611049	0.52481	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	5.19	5.19	0.71428	4.563000	0.60539	7.620000	0.62269	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.398000	0.26737	0.0:1.0:0.0:0.0	16.258	0.82351	402	0.82617	Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved domain;Carboxylase, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2143.43	160	chr11	66850052	.	C	T	2143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=482;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.683;SOR=0.643	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1405	9	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	928.21	47	chr11	66863811	.	C	T	928.21	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.219;DP=1024;ExcessHet=4.5998;FS=159.643;InbreedingCoeff=-0.4326;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.45;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,58:145:99:.:.:378,0,1212:.	4	0	6	0
chr11	66976204	66976204	G	A	exonic	C11orf86	.	nonsynonymous SNV	C11orf86:NM_001136485:exon2:c.G301A:p.V101I,C11orf86:NM_001353554:exon2:c.G304A:p.V102I	.	420	1099	2	1	0	4	0.00181653	.	.	.	2400241	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	.	0.0009	0.000798722	0.0011	0.0005	0	0	0.0294	0.0022	0	0.0001	0.0002975	46	154602	rs200669310	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	9.494e-05	0.0003	0.0003	0	0.0006	0.0004	0.0011	0.0006	0.0002	0.0008	0.0008	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	9.621e-05	0	0.0008	0	0	0.0008	0	0.0013	0.0009	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.291	0.32334	B	0.072	0.28043	B	0.020364	0.27054	N	0.258879	0.999501	0.21084	N	1.1	0.28011	L	.	.	.	-0.78	0.21644	N	0.145	0.14622	-1.0266	0.21560	T	0.068	0.27947	T	9	0.003779322	0.00070	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.08614489887970707	0.08548	.	.	.	.	.	0.035741	0.23835	T	-0.526506	0.00403	T	-0.54808	0.17509	T	0.0604031363087865	0.07232	T	0.547445	0.18775	T	0.18834317	0.40329	0.24967097	0.50543	0.18834317	0.40329	0.24967097	0.50542	-4.382	0.29312	T	.	.	0.132	0.28406	B	.	.	2.281068	0.29170	18.04	0.99775144762219969	0.86260	0.44613	0.27357	N	ALL	0.052334	0.09330	N	-0.495919826530754	0.22214	1.184555	-0.500042575679862	0.22152	1.201853	0.999999999947902	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	4.36	2.46	0.29032	1.215000	0.32035	3.690000	0.39494	0.661000	0.55757	0.838000	0.30254	1.000000	0.68203	0.096000	0.18090	0.219:0.0:0.781:0.0	6.710	0.22458	169	0.93437	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002304	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	768.43	33	chr11	66976204	.	G	A	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.099;DP=386;ExcessHet=0;FS=1.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=1.23;SOR=0.908	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	9	0	1	0
chr11	67056928	67056928	A	G	exonic	RHOD	.	nonsynonymous SNV	RHOD:NM_001300886:exon1:c.A26G:p.E9G,RHOD:NM_014578:exon1:c.A26G:p.E9G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.557403484937	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs776366712	6.044e-06	1.231e-05	2.982e-06	9.192e-06	0.0002	2.6e-06	1.88e-06	2.05e-06	1.35e-06	0	0	0	0	0	0.0002	5.693e-06	1.822e-05	0	2.634e-05	2.628e-05	2.575e-05	2.696e-05	5.888e-05	8.16e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.888e-05	0	0	0.026	0.72154	D	0.216	0.32461	T	.	.	.	.	.	.	0.861320	0.07118	U	1.098100	1	0.08975	N	.	.	.	-0.56	0.71187	T	-0.56	0.43149	N	0.173	0.27197	-0.9348	0.43424	T	0.185	0.53376	T	10	0.16823927	0.31364	T	0.557403	0.95945	D	0.054	0.15330	0.193	0.10437	0.703422681242	0.70084	0.2512956546629976	0.25043	1.33905284546	0.83810	0.778655827045	0.78725	T	0.024169	0.18313	T	-0.08047	0.39638	T	-0.353366	0.38820	T	0.164248510827861	0.18180	T	0.475652	0.14239	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04723	B	.;.	.;.	2.938256	0.39058	20.9	0.99720536277670768	0.81984	0.09064	0.14894	N	AEFDGBHCI	0.047602	0.08034	N	-0.805421780096725	0.13172	0.6470152	-0.790309368431663	0.14733	0.7713298	0.999999999999783	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.64067	0.45733	0	0.56751	0.32155	0	.	.	3.05	3.05	0.34272	0.719000	0.25552	1.373000	0.25972	0.577000	0.29297	0.021000	0.19753	0.941000	0.28781	0.210000	0.22183	1.0:0.0:0.0:0.0	8.166	0.30388	161	0.93754	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	546.43	38	chr11	67056928	.	A	G	546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.034;DP=380;ExcessHet=0;FS=1.987;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-0.734;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,991	9	0	1	0
chr11	67300098	67300098	A	G	exonic	ANKRD13D	.	nonsynonymous SNV	ANKRD13D:NM_207354:exon10:c.A1048G:p.I350V,ANKRD13D:NM_001347901:exon11:c.A787G:p.I263V	.	.	.	.	.	.	.	.	.	.	.	4165505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00562911091774	.	.	8.262e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs777513068	3.968e-05	3.967e-05	4.492e-05	3.438e-05	4.856e-05	3.113e-05	2.847e-05	3.804e-05	3.407e-05	0	0	0	0	0	0	4.856e-05	6.624e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.873	0.03125	T	0.998	0.02320	T	0.026	0.19406	B	0.036	0.22909	B	0.018284	0.27517	N	0.280529	0.995612	0.42773	D	1.065	0.27018	L	1.02	0.40749	T	0.09	0.05917	N	0.207	0.22998	-1.0782	0.07701	T	0.062	0.25923	T	10	0.07840091	0.12491	T	0.005629	0.14560	T	0.061	0.17616	0.25	0.18757	0.336424232111	0.33258	0.26234675833842336	0.26147	0.341172896618	0.36052	0.391850829124	0.23930	T	0.023982	0.18205	T	-0.297927	0.08856	T	-0.558071	0.16558	T	0.0800522626668137	0.09994	T	0.828817	0.50550	T	0.04824047	0.08376	0.039672796	0.04115	0.04824047	0.08376	0.039672796	0.04114	-2.096	0.06161	T	.	.	0.058	0.01786	B	.;.;.;.	.;.;.;.	2.018716	0.25655	16.84	0.77689352990341098	0.11981	0.88390	0.48296	D	AEFBCI	0.463048	0.51213	N	-0.320850374952628	0.28358	1.56341	-0.120712649381439	0.34556	1.98907	0.999913800769759	0.45857	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.65	4.65	0.57626	3.461000	0.52800	4.698000	0.44396	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	1.0:0.0:0.0:0.0	13.910	0.63368	391	0.83213	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1385.43	35	chr11	67300098	.	A	G	1385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.546;DP=442;ExcessHet=0;FS=1.486;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-1.503;SOR=0.556	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	9	0	1	0
chr11	67409486	67409486	C	T	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.C770T:p.P257L,TBC1D10C:NM_001369496:exon9:c.C1073T:p.P358L,TBC1D10C:NM_001369498:exon9:c.C1097T:p.P366L,TBC1D10C:NM_001369494:exon10:c.C770T:p.P257L,TBC1D10C:NM_001369497:exon10:c.C1073T:p.P358L,TBC1D10C:NM_198517:exon10:c.C1073T:p.P358L	.	418	1095	9	0	0	9	0.00409277	.	.	.	3324638	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00811284154241	.	0.000199681	0.0005	0	0	0	.	0	0	0.0008	8.41e-05	13	154602	rs531173208	0.0002	0.0002	0.0002	0.0003	0.0024	0.0002	0.0002	0.0014	0.0011	0	0.0003	3.979e-05	0	2.115e-05	0.0024	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	2.405e-05	0	0.0007	0	0	0	0	0.0002	0.0005	0.0004	0.049	0.39820	D	0.115	0.36630	T	0.197	0.29559	B	0.087	0.29615	B	0.027502	0.25745	N	0.277119	1	0.81001	D	.	.	.	3.3	0.06368	T	-2.45	0.53577	N	0.148	0.15046	-1.0731	0.08745	T	0.018	0.07706	T	10	0.029675066	0.01094	T	0.008113	0.21495	T	0.074	0.21613	0.187	0.09646	0.47282010386	0.46910	0.4962139570370716	0.49542	.	.	0.399671107531	0.25023	T	0.075709	0.35243	T	-0.540267	0.00334	T	-0.677574	0.07132	T	0.0515075278836964	0.05762	T	0.810819	0.46223	T	0.07095753	0.15671	0.085965656	0.19886	0.07095753	0.15670	0.085965656	0.19885	-3.298	0.13712	T	.	.	0.080	0.07985	B	.	.	2.446813	0.31499	18.76	0.98084977694628972	0.38141	0.16784	0.19547	N	ALL	0.061850	0.11852	N	-0.555191265839513	0.20321	1.070385	-0.552803662091927	0.20732	1.118291	0.999999999999998	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.92	4.92	0.64147	2.148000	0.41859	7.262000	0.57963	0.599000	0.40250	0.019000	0.19563	0.939000	0.28734	0.001000	0.02609	0.0:1.0:0.0:0.0	15.143	0.72299	580	0.69689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	511.43	37	chr11	67409486	.	C	T	511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.415;DP=365;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.216;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:96:0,96,1440	9	0	1	0
chr11	67417423	67417423	C	T	exonic	CARNS1	.	nonsynonymous SNV	CARNS1:NM_001166222:exon3:c.C20T:p.S7L	.	.	.	.	.	.	.	.	.	.	.	4108674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.083	0.00316003266713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435407075	4.766e-05	5.472e-05	5.352e-05	4.148e-05	5.474e-05	3.753e-05	3.436e-05	4.305e-05	3.862e-05	3.931e-05	0	0	0	0	0	5.474e-05	5.871e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.19694	N	.	.	.	2.08	0.21291	T	0.89	0.01641	N	0.1	0.14054	-0.9595	0.39274	T	0.016	0.06473	T	9	0.029785872	0.01105	T	0.00316	0.06906	T	0.083	0.24192	.	.	0.0666544352282	0.05500	0.028154563226441002	0.02765	0.0836342917841	0.09429	0.315512150526	0.12742	T	.	.	.	-0.376649	0.03271	T	-0.778807	0.02490	T	0.0191677937603141	0.00623	T	0.677032	0.30359	T	.	.	.	.	.	.	.	.	-2.709	0.07404	T	.	.	0.059	0.01059	B	.;.	.;.	-0.014762	0.04181	1.012	0.59266855234488691	0.06184	0.00120	0.00751	N	AEFGBI	0.033088	0.03859	N	-1.31113393510021	0.03547	0.1586267	-1.18065481234255	0.06233	0.2993916	0.999999659003138	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.77	3.65	0.40985	0.090000	0.14865	0.031000	0.13732	-0.181000	0.10308	0.001000	0.13787	0.006000	0.19429	0.156000	0.20513	0.0:0.2158:0.0:0.7842	5.996	0.18722	658	0.62094	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	535.43	34	chr11	67417423	.	C	T	535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.975;DP=362;ExcessHet=0;FS=1.05;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=0.371;SOR=0.874	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,955	9	0	1	0
chr11	67435149	67435149	C	T	exonic	RPS6KB2	.	nonsynonymous SNV	RPS6KB2:NM_003952:exon15:c.C1429T:p.R477C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0437727559247	.	.	5.393e-05	0.0002	0	0.0003	0	3.443e-05	0	0	3.88e-05	6	154602	rs772711337	2.087e-05	2.326e-05	1.798e-05	2.38e-05	0.0005	1.481e-05	1.285e-05	0.0003	0.0002	0	0	0	0.0005	0	0.0002	2.716e-06	6.711e-05	4.706e-05	7.88e-05	7.874e-05	6.426e-05	9.4e-05	0.0017	4.494e-05	3.51e-05	0.0009	0.0007	2.407e-05	0	6.533e-05	0	0.0017	0	0	1.47e-05	0	0	0.065	0.36310	T	0.056	0.46632	T	0.072	0.23997	B	0.008	0.13708	B	0.000048	0.53742	D	0.000000	0.998799	0.45457	D	1.355	0.33814	L	-0.39	0.69158	T	-0.86	0.23372	N	0.29	0.32812	-0.9224	0.45224	T	0.138	0.45451	T	10	0.059195817	0.07079	T	0.043773	0.61156	D	0.223	0.52023	0.412	0.44887	0.862958874889	0.86162	0.43783171151401423	0.43700	0.143716410938	0.16225	0.516103982925	0.41078	T	0.218758	0.58157	T	-0.286258	0.10016	T	-0.266998	0.48122	T	0.0911244530045322	0.11350	T	0.768523	0.39806	T	0.067720644	0.14692	0.047443755	0.06833	0.067720644	0.14692	0.047443755	0.06833	-6.504	0.50317	T	.	.	0.285	0.51712	B	.	.	3.249615	0.44396	21.9	0.99465285686888028	0.66049	0.76121	0.37310	D	AEFDGBHCI	0.467900	0.51493	N	-0.314068758560329	0.28612	1.579663	-0.135272867787862	0.33979	1.949564	0.999999981832007	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.66	4.66	0.57857	1.058000	0.30114	1.774000	0.28659	-0.175000	0.10903	0.724000	0.28861	0.941000	0.28781	0.081000	0.17303	0.0:1.0:0.0:0.0	13.084	0.58543	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	406.43	26	chr11	67435149	.	C	T	406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=284;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.33;SOR=0.339	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	9	0	1	0
chr11	67438763	67438763	C	T	exonic	CORO1B	.	nonsynonymous SNV	CORO1B:NM_020441:exon10:c.G1252A:p.A418T,CORO1B:NM_001018070:exon11:c.G1252A:p.A418T	.	413	1084	22	3	0	28	0.0127505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0088	0.00439297	0.0149	0.0027	0.0156	0	0	0.0239	0.0089	0.0085	0.0013519	209	154602	rs11601245	0.0096	0.0095	0.0097	0.0095	0.0119	0.0094	0.0094	0.0107	0.0106	0.0017	0.0063	0.0094	2.66e-05	0.0019	0.0119	0.0109	0.0089	0.0061	0.0065	0.0065	0.0070	0.0061	0.0107	0.0062	0.0061	0.0100	0.0098	0.0021	0	0.0065	0.0063	0	0.0015	0.0137	0.0107	0.0080	0.0048	0.77	0.03382	T	0.444	0.13177	T	0.02	0.18235	B	0.006	0.12133	B	0.261711	0.15302	N	0.546626	1	0.08975	N	1.01	0.25309	L	0.05	0.61923	T	0.12	0.05604	N	0.062	0.03502	-1.0497	0.14481	T	0.055	0.23110	T	10	0.0027342439	0.00043	T	.	.	.	0.017	0.02790	.	.	0.391000631824	0.38715	0.31806998235902945	0.31719	0.286447106532	0.31039	0.366126835346	0.20275	T	0.077863	0.35757	T	-0.645113	0.00078	T	-0.690042	0.06386	T	0.000803848268730522	0.00007	T	0.386161	0.09499	T	0.024548657	0.01297	0.040052857	0.04240	0.024548657	0.01297	0.040052857	0.04239	-4.299	0.28163	T	.	.	0.070	0.03301	B	.;.	.;.	0.504439	0.08736	5.509	0.91855835879007552	0.21170	0.11437	0.16633	N	ALL	0.202325	0.32892	N	-1.40426417976963	0.02601	0.1150833	-1.38738850081405	0.03386	0.1578181	0.999999999992869	0.74766	0.67177	0.52595	0	0.52208	0.09955	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.58	-0.81	0.10313	-1.556000	0.02272	-4.936000	0.01919	-1.563000	0.00944	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3033:0.4363:0.0:0.2605	3.418	0.06957	662	0.61715	.;.	DOC2GP|DOC2GP|DOC2GP	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	RHOD|RHOD|RHOD|RHOD|RHOD|RHOD	Adipose_Visceral_Omentum|Esophagus_Mucosa|Heart_Left_Ventricle|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015832	0.005319	0.019231	0.014706	0.000000	0.043103	0.021875	0.007692	0.05	354.43	33	chr11	67438763	.	C	T	354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.517;DP=323;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=1.03;SOR=0.804	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1015	9	0	1	0
chr11	67495482	67495482	G	C	exonic	PITPNM1	.	nonsynonymous SNV	PITPNM1:NM_001130848:exon16:c.C2435G:p.P812R,PITPNM1:NM_004910:exon16:c.C2438G:p.P813R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00724735019992	7.7e-05	0.000998403	0.0018	0.0009	0	0	0	7.223e-05	0	0.0097	0.0004851	75	154602	rs151074608	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0003	0.0038	0.0037	0.0011	0.0002	0	7.858e-05	2.025e-05	0.0005	3.781e-05	0.0005	0.0042	0.0003	0.0003	0.0003	0.0003	0.0023	0.0002	0.0002	0.0013	0.0010	0.0008	0	6.535e-05	0	0	0	0	1.471e-05	0	0.0023	0.156	0.24090	T	0.45	0.12957	T	0.144	0.27697	B	0.26	0.39460	B	0.281594	0.14935	N	0.584031	1	0.08975	N	0.345	0.11182	N	1.0	0.41750	T	-0.75	0.21003	N	0.156	0.19055	-0.9711	0.36967	T	0.064	0.26527	T	10	0.00445953	0.00092	T	0.007247	0.19225	T	0.065	0.18881	.	.	0.161926535498	0.15789	0.2751787321906441	0.27430	0.587132898061	0.54305	0.41989004612	0.27821	T	0.23357	0.60040	T	-0.534776	0.00360	T	-0.540679	0.18229	T	0.00632747376402742	0.00070	T	0.686731	0.29555	T	0.06595001	0.14143	0.07139473	0.15284	0.06595001	0.14143	0.07139473	0.15284	-4.358	0.29106	T	.	.	0.102	0.19032	B	.;.;.	.;.;.	2.805785	0.36920	20.4	0.91703405983067587	0.20998	0.30876	0.24194	N	AEFDGBI	0.185170	0.31250	N	-0.715981501695404	0.15573	0.7859687	-0.665502899219975	0.17826	0.9495798	0.997318842025457	0.35488	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.97	3.02	0.33970	1.911000	0.39567	6.726000	0.56443	0.676000	0.76740	0.021000	0.19753	0.998000	0.33993	0.972000	0.54974	0.0:0.0:0.771:0.229	10.018	0.41199	759	0.50631	DDHD domain|DDHD domain|DDHD domain;.;DDHD domain|DDHD domain|DDHD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000509	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	687.43	72	chr11	67495482	.	G	C	687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.409;DP=393;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-0.922;SOR=0.84	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1212	9	0	1	0
chr11	67497540	67497540	G	A	exonic	PITPNM1	.	nonsynonymous SNV	PITPNM1:NM_001130848:exon13:c.C1922T:p.P641L,PITPNM1:NM_004910:exon13:c.C1922T:p.P641L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0109824924211	.	0.000199681	0.0004	0	0	0	0	0	0.0011	0.0028	0.000304	47	154602	rs547678982	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0002	0.0028	0.0027	0	0	0	0	0	0	0	0.0001	0.0031	0.0001	0.0001	3.854e-05	0.0002	0.0033	6.506e-05	5.319e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.796	0.03150	T	0.374	0.16280	T	0.0	0.02946	B	0.001	0.04355	B	0.021354	0.26851	N	0.259048	0.998083	0.44492	D	0.975	0.24501	L	0.97	0.42888	T	0.65	0.02332	N	0.224	0.25130	-1.0926	0.05112	T	0.058	0.24242	T	10	0.003138572	0.00052	T	0.010982	0.28125	T	0.022	0.04323	0.211	0.12923	0.143184338766	0.13958	0.3687538202570981	0.36789	0.451750774694	0.44918	0.455125331879	0.32645	T	0.046381	0.27407	T	-0.574681	0.00207	T	-0.603192	0.12545	T	0.0126445671694394	0.00212	T	0.723028	0.33655	T	0.02730373	0.01904	0.026212642	0.00698	0.02730373	0.01904	0.026212642	0.00698	-2.901	0.09978	T	.	.	0.068	0.03698	B	.;.;.	.;.;.	1.469114	0.18928	14.00	0.76300263350091491	0.11413	0.09142	0.14957	N	AEFDGBI	0.092949	0.18813	N	-0.73292821376328	0.15100	0.7581106	-0.688828952428065	0.17239	0.9157695	0.631676907626715	0.21974	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.48	1.56	0.22423	0.257000	0.18137	2.541000	0.33216	0.676000	0.76740	0.021000	0.19753	0.997000	0.33255	0.928000	0.46473	0.1073:0.0:0.6988:0.1939	5.661	0.16945	764	0.49969	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1273.43	37	chr11	67497540	.	G	A	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.326;DP=479;ExcessHet=0;FS=3.244;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=0.099;SOR=1.044	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1429	9	0	1	0
chr11	67628056	67628056	G	A	exonic	NUDT8	.	nonsynonymous SNV	NUDT8:NM_001243750:exon4:c.C601T:p.R201C	.	418	1099	4	1	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	0.0044	0.00259585	0.0043	0.0016	0.0017	0.0001	0.0005	0.0068	0.0036	0.0015	0.0042432	656	154602	rs150272748	0.0068	0.0067	0.0071	0.0064	0.0082	0.0066	0.0066	0.0081	0.0080	0.0010	0.0024	0.0004	0.0001	0.0011	0.0003	0.0082	0.0051	0.0014	0.0040	0.0040	0.0045	0.0035	0.0073	0.0037	0.0036	0.0068	0.0066	0.0012	0	0.0027	0	0.0006	0.0003	0	0.0073	0.0033	0.0023	0.192	0.20988	T	0.089	0.40426	T	0.007	0.14184	B	0.001	0.04355	B	0.000840	0.00697	N	4.337450	1	0.08975	N	1.67	0.42885	L	0.81	0.48460	T	-2.84	0.59873	D	0.08	0.05542	-1.0656	0.10409	T	0.063	0.26029	T	9	0.0054932237	0.00121	T	.	.	.	0.044	0.11924	.	.	0.0666544352282	0.05500	0.2363893085764653	0.23553	0.372883306506	0.38771	0.268606990576	0.05959	T	0.032663	0.22583	T	-0.635776	0.00088	T	-0.679485	0.07015	T	0.0120420132471583	0.00190	T	0.649435	0.26018	T	0.08079716	0.18531	0.05799015	0.10639	0.08079716	0.18531	0.05799015	0.10639	-6.162	0.47615	T	.	.	0.148	0.32661	B	.	.	1.324097	0.17287	13.07	0.79743595876658846	0.12881	0.03031	0.07915	N	AEFDBHCIJ	0.185312	0.31264	N	-1.10863855483338	0.06488	0.2988332	-1.16057432380628	0.06580	0.3171883	0.999986890519266	0.51787	0.730579	0.87903	0	0.709663	0.81188	0	0.749866	0.98131	0	0.655142	0.61905	0	.	.	4.28	0.107	0.13849	-0.236000	0.09019	0.644000	0.20348	-0.263000	0.06870	0.000000	0.06391	0.001000	0.17328	0.348000	0.25613	0.2943:0.164:0.5417:0.0	4.436	0.10975	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	900.43	35	chr11	67628056	.	G	A	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.74;DP=435;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-0.923;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	9	0	1	0
chr11	67664499	67664499	G	A	exonic	ALDH3B2	.	nonsynonymous SNV	ALDH3B2:NM_001031615:exon8:c.C770T:p.P257L,ALDH3B2:NM_001354345:exon9:c.C770T:p.P257L	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	.	0.0018	0.00279553	0.0026	0.0004	0.0010	0	0	0.0026	0.0022	0.0076	0.0023738	367	154602	rs150084712	0.0025	0.0025	0.0023	0.0027	0.0072	0.0024	0.0024	0.0068	0.0066	0.0004	0.0007	0.0085	2.519e-05	1.872e-05	0.0063	0.0023	0.0026	0.0072	0.0019	0.0019	0.0017	0.0021	0.0104	0.0017	0.0016	0.0081	0.0073	0.0004	0	0.0012	0.0098	0	0	0	0.0023	0.0014	0.0104	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	U	0.000000	1	0.81001	D	4.545	0.99110	H	-3.69	0.95317	D	-9.7	0.98602	D	0.989	0.99670	1.091	0.99295	D	0.957	0.98615	D	10	0.12536263	0.23821	T	.	.	.	0.928	0.98267	.	.	0.976308020779	0.97605	0.9449000254571344	0.94472	0.777711585674	0.65120	0.622250556946	0.56047	T	0.494025	0.81734	T	0.213359	0.75148	D	0.538826	0.95405	D	0.230741646468653	0.21987	T	0.992251	0.97542	D	0.9802403	0.99128	0.9513399	0.98480	0.9802403	0.99128	0.9513399	0.98480	-10.231	0.75283	D	.	.	0.466	0.62985	A	.;.	.;.	5.238448	0.87935	29.4	0.99897445217261727	0.96971	0.99222	0.93031	D	AEFDBI	0.873197	0.79542	D	0.986518143290859	0.95316	13.50433	0.839598244448149	0.92395	11.40123	0.9999999998381	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	9.833000	0.98330	11.147000	0.87239	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	16.108	0.81049	774	0.48577	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.004076	0.029240	0.000000	0.008621	0.012195	0.000000	0.05	2088.43	48	chr11	67664499	.	G	A	2088.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=520;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0.92;QD=10.99;ReadPosRankSum=-0.692;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1207	9	0	1	0
chr11	67993705	67993705	C	T	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon10:c.G1453A:p.V485M	.	85	1395	39	3	0	45	0.015873	.	.	.	461407	Herpes_simplex_encephalitis,_susceptibility_to,_1|not_provided	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.424	.	.	0.00279553	0.0061	0	0.0065	0	0	0.0080	0.0112	0.0068	0.0017673	46	26028	rs199824078	0.0028	0.0026	0.0025	0.0030	0.0287	0.0027	0.0026	0.0241	0.0225	0.0015	0.0058	0.0138	0	0	0.0287	0.0021	0.0047	0.0057	0.0026	0.0026	0.0024	0.0028	0.0059	0.0024	0.0023	0.0049	0.0045	0.0005	0	0.0059	0.0115	0	0	0.0374	0.0029	0.0066	0.0052	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.959	0.70163	D	0.000006	0.62929	D	0.062153	0.984594	0.40167	D	2.65	0.77586	M	.	.	.	.	.	.	0.514	0.54496	0.054	0.83321	D	0.532	0.82660	D	10	0.013433933	0.00285	T	.	.	.	0.424	0.73226	.	.	0.289831133145	0.28582	0.8691284061655346	0.86877	1.26570268792	0.82146	0.701173007488	0.67313	T	0.279494	0.65218	T	-0.252212	0.13828	T	-0.133142	0.60706	T	0.0252460135581653	0.01304	T	0.942906	0.78488	D	0.2581719	0.48865	0.27325338	0.53243	0.2581719	0.48865	0.27325338	0.53242	-10.539	0.77071	D	.	.	0.270	0.50389	B	.	.	5.055009	0.84220	28.3	0.99892743650132054	0.96666	0.93986	0.59770	D	AEFCI	0.462465	0.51179	N	0.520327881881713	0.68291	5.197265	0.531995076050658	0.70157	5.463727	0.999999913522198	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.02	5.02	0.66742	4.640000	0.61065	5.873000	0.50556	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.841	0.78620	721	0.55360	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.048531	0.067797	0.063953	0.100000	0.000000	0.039216	0.025210	0.004425	0.05	294.43	24	chr11	67993705	.	C	T	294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.057;DP=190;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=30.91;MQRankSum=-0.789;QD=16.36;ReadPosRankSum=0.797;SOR=0.76	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,795	9	0	1	0
chr11	67999234	67999234	G	A	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon5:c.C626T:p.P209L	.	0	1464	53	5	0	63	0.0210632	.	.	.	461586	Herpes_simplex_encephalitis,_susceptibility_to,_1|not_provided	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0020	0.00279553	0.0037	0.0008	0.0049	0	0	0.0042	0.0134	0.0056	0.0034605	535	154602	rs144399212	0.0030	0.0030	0.0027	0.0032	0.0373	0.0029	0.0029	0.0332	0.0316	0.0016	0.0060	0.0135	0	0	0.0373	0.0024	0.0047	0.0059	0.0029	0.0029	0.0027	0.0031	0.0069	0.0027	0.0026	0.0059	0.0055	0.0006	0	0.0069	0.0115	0	0	0.0374	0.0031	0.0085	0.0052	0.109	0.61437	T	0.009	0.66756	D	0.981	0.59675	D	0.397	0.44399	B	0.000000	0.84330	D	0.000000	0.999516	0.47363	D	.	.	.	3.25	0.06762	T	-1.88	0.43906	N	0.677	0.68429	-0.9382	0.42900	T	0.015	0.06042	T	9	0.0077898204	0.00177	T	.	.	.	0.194	0.47447	.	.	0.0675242888579	0.06100	0.816316117180817	0.81587	1.28113235318	0.82534	0.577768325806	0.49772	T	0.260664	0.63206	T	-0.43278	0.01427	T	-0.392377	0.34274	T	0.0258280298992373	0.01383	T	0.851815	0.53646	D	0.3333287	0.55742	0.20664336	0.44888	0.3333287	0.55742	0.20664336	0.44887	-8.679	0.65609	D	.	.	0.080	0.11701	B	.;.	.;.	4.482114	0.69940	25.4	0.99814277337980228	0.89797	0.93388	0.58083	D	AEFBCI	0.865290	0.78433	D	0.180300324549607	0.50254	3.217198	0.12862498443393	0.46019	2.854937	0.999999850047325	0.74766	0.706298	0.61202	0	0.696144	0.67643	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.18	4.18	0.48473	8.554000	0.90492	11.681000	0.94222	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0:0.0:1.0:0.0	15.595	0.76317	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.045821	0.070707	0.055707	0.078947	0.050000	0.043103	0.027439	0.003788	0.05	912.43	34	chr11	67999234	.	G	A	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.948;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,996	9	0	1	0
chr11	68003029	68003029	G	T	exonic	UNC93B1	.	nonsynonymous SNV	UNC93B1:NM_030930:exon3:c.C385A:p.L129I	.	0	1464	52	6	0	64	0.0213904	.	.	.	461921	Herpes_simplex_encephalitis,_susceptibility_to,_1|not_provided	MONDO:MONDO:0024563,MedGen:C2750180,OMIM:610551,Orphanet:1930|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.122	.	0.0021	0.00279553	0.0046	0.0010	0.0067	0	0	0.0051	0.0160	0.0064	0.0034152	528	154602	rs146593182	0.0029	0.0029	0.0027	0.0031	0.0374	0.0028	0.0028	0.0333	0.0317	0.0016	0.0061	0.0135	0	0	0.0374	0.0023	0.0046	0.0057	0.0028	0.0028	0.0026	0.0031	0.0069	0.0026	0.0025	0.0058	0.0054	0.0006	0	0.0069	0.0115	0	0	0.0374	0.0031	0.0085	0.0050	0.273	0.28520	T	0.156	0.92824	T	0.998	0.73220	D	0.949	0.68658	D	0.000066	0.52346	D	0.131051	1	0.81001	D	.	.	.	1.08	0.39401	T	-0.92	0.30964	N	0.602	0.62018	-0.9474	0.41414	T	0.134	0.44856	T	9	0.008801967	0.00199	T	.	.	.	0.122	0.33800	.	.	0.0675242888579	0.06100	0.39270690972395605	0.39185	1.04181182767	0.75820	0.695134460926	0.66443	T	0.129685	0.45812	T	-0.292307	0.09406	T	-0.191013	0.55495	T	0.0230835697670063	0.01033	T	0.869813	0.57430	D	0.2432664	0.47264	0.27638835	0.53583	0.2432664	0.47264	0.27638835	0.53582	-9.123	0.68485	D	.	.	0.215	0.46285	B	.;.	.;.	4.634940	0.73737	26.0	0.9833031606089162	0.40329	0.94966	0.62953	D	AEFDGBHCI	0.960848	0.98184	D	0.495847297113004	0.66848	5.00341	0.478530138974442	0.66570	4.969255	1.0	0.98316	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.23	4.23	0.49319	7.866000	0.85474	11.482000	0.92895	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:1.0:0.0	15.550	0.75883	779	0.47767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.045821	0.070707	0.055707	0.078947	0.050000	0.043103	0.027439	0.003788	0.05	807.43	33	chr11	68003029	.	G	T	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.202;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=-0.633;SOR=0.678	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	9	0	1	0
chr11	68021629	68021629	G	A	exonic	ALDH3B1	.	nonsynonymous SNV	ALDH3B1:NM_001030010:exon6:c.G596A:p.R199H,ALDH3B1:NM_001290059:exon6:c.G119A:p.R40H,ALDH3B1:NM_000694:exon7:c.G707A:p.R236H,ALDH3B1:NM_001161473:exon7:c.G707A:p.R236H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0876827660884	7.7e-05	.	1.649e-05	9.63e-05	0	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs372252810	3.42e-06	3.42e-06	5.445e-06	1.375e-06	2.987e-05	1e-06	7.3e-07	3e-07	1.1e-07	2.987e-05	0	0	2.519e-05	0	0	1.799e-06	0	1.159e-05	4.603e-05	4.597e-05	5.14e-05	4.039e-05	0.0002	2.111e-05	1.528e-05	7.897e-05	5.591e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.83351	D	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.58117	.	.	.	.	.	.	.	0.5116157	0.62130	D	0.087683	0.74984	D	.	.	.	.	0.722757827694	0.72031	0.653885058077823	0.65324	.	.	0.481784522533	0.36303	T	0.519	0.83165	D	0.031912	0.55977	T	-0.0104091	0.69657	D	.	.	.	0.836416	0.68393	T	0.7883416	0.83169	0.82510066	0.89867	0.7883416	0.83171	0.82510066	0.89867	-12.719	0.88172	D	.	.	0.370	0.64920	A	.;.;.	.;.;.	5.313158	0.89189	29.9	0.95303465454171232	0.26627	0.79664	0.39520	D	AEFGBHCI	0.601857	0.59394	D	.	.	.	.	.	.	0.999999999998777	0.74766	0.035006	0.00240	2	0.090787	0.02525	0	0.096126	0.03002	1	0.109439	0.03173	0	.	.	3.89	3.89	0.44098	3.423000	0.52517	8.058000	0.76386	0.567000	0.28720	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.694	0.68715	783	0.47268	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4686.43	33	chr11	68021629	.	G	A	4686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.662;DP=665;ExcessHet=0;FS=5.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0;QD=13.7;ReadPosRankSum=1.24;SOR=0.567	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1310	9	0	1	0
chr11	68348021	68348021	A	G	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon2:c.A266G:p.Q89R	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1493	26	3	0	32	0.010603	.	.	YES	192327	not_provided|not_specified|Osteogenesis_imperfecta	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.255	.	0.0046	0.0199681	0.0174	0.0030	0.0712	0.0956	0.0011	0.0048	0.0156	0.0053	0.0160412	2480	154602	rs41494349	0.0096	0.0096	0.0101	0.0090	0.0768	0.0094	0.0094	0.0746	0.0736	0.0026	0.0606	0.0002	0.0768	0.0014	0.0106	0.0061	0.0113	0.0056	0.0091	0.0091	0.0089	0.0094	0.0812	0.0087	0.0086	0.0748	0.0722	0.0024	0.0132	0.0284	0.0003	0.0812	0.0009	0.0102	0.0054	0.0104	0.0046	0.879	0.02550	T	0.401	0.14961	T	0.0	0.02946	B	0.001	0.04355	B	0.000266	0.46590	U	0.000000	0.997559	0.43985	D	-1.01	0.01154	N	-2.56	0.89627	D	0.36	0.03700	N	0.117	0.10626	-0.7890	0.55788	T	0.035	0.15291	T	10	0.0024719536	0.00037	T	.	.	.	0.255	0.56562	.	.	.	.	0.7059334402387919	0.70535	0.442339813184	0.44202	0.524348080158	0.42239	T	0.270593	0.64287	T	-0.469902	0.00851	T	-0.370281	0.36856	T	0.0210225047742076	0.00803	T	0.80142	0.44736	T	0.111641444	0.26380	0.10058037	0.24053	0.103894375	0.24557	0.123055644	0.29677	0.083	0.00321	T	0.04609604163479369	0.00618	0.176	0.38480	B	.	.	2.211867	0.28218	17.72	0.35867570491121881	0.02275	0.75230	0.36825	D	AEFDBI	0.330168	0.43029	N	-0.602503233227717	0.18869	0.9830987	-0.329694221574866	0.27145	1.504193	0.999816300052879	0.43459	0.706548	0.73137	0	0.653731	0.59785	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	1.985000	0.40289	4.593000	0.43966	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	14.097	0.64554	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.017623	0.020202	0.024457	0.020468	0.050000	0.025862	0.003049	0.007576	0.05	1907.43	33	chr11	68348021	.	A	G	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.258;DP=558;ExcessHet=0;FS=3.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=-2.052;SOR=0.938	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1436	9	0	1	0
chr11	68406610	68406610	G	A	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon9:c.G145A:p.G49S,LRP5:NM_002335:exon9:c.G1888A:p.G630S	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1507373	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.961	0.750079859005	.	.	8.257e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs777141177	1.231e-05	1.231e-05	1.634e-05	8.251e-06	1.079e-05	7.7e-06	6.35e-06	5.75e-06	4.55e-06	0	0	0	0	5.622e-05	0	1.079e-05	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.008	0.67890	D	1.0	0.90584	D	0.969	0.72001	D	0.000142	0.49130	U	0.000000	1	0.81001	D	3.88	0.95983	H	-4.81	0.98183	D	-4.16	0.75375	D	0.849	0.84505	1.074	0.98693	D	0.973	0.99162	D	10	0.9612856	0.95541	D	0.75008	0.98006	D	0.961	0.99405	.	.	0.906111802265	0.90518	0.8215659109389193	0.82113	1.229058174	0.81290	0.730978488922	0.71649	T	0.943588	0.99133	D	0.526198	0.95051	D	0.533556	0.95274	D	0.994352579116821	0.85594	D	0.967503	0.88224	D	0.6714193	0.76509	0.72425675	0.83714	0.6714193	0.76510	0.72425675	0.83715	-9.438	0.70473	D	0.6082698881644251	0.67568	0.243	0.47741	B	.	.	5.395809	0.90374	31	0.99879078431644108	0.95572	0.98917	0.88597	D	AEFGBI	0.942957	0.94818	D	0.94013147025483	0.93583	12.13589	0.825958837764666	0.91537	10.93733	0.999999999753656	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.11	4.11	0.47350	9.738000	0.98046	11.683000	0.94248	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	16.950	0.86112	658	0.62094	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2204.43	37	chr11	68406610	.	G	A	2204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.377;DP=448;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-0.306;SOR=0.612	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	9	0	1	0
chr11	68710994	68710994	T	C	exonic	TESMIN	.	nonsynonymous SNV	TESMIN:NM_004923:exon9:c.A1214G:p.E405G	.	430	1082	8	2	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0176554862813	0.0012	0.000599042	0.0009	0.0002	0.0011	0	0	0.0012	0.0044	0.0006	0.0008473	131	154602	rs142546011	0.0007	0.0007	0.0007	0.0007	0.0035	0.0007	0.0007	0.0023	0.0019	0.0001	0.0015	0.0007	0	9.36e-05	0.0035	0.0007	0.0009	0.0006	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	9.62e-05	0	0.0009	0	0	9.411e-05	0.0136	0.0011	0.0024	0.0004	0.069	0.35537	T	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	0.999329	0.46670	D	1.91	0.51138	L	1.34	0.34841	T	-6.15	0.90178	D	0.372	0.41360	-0.9811	0.34748	T	0.155	0.48653	T	10	0.061744153	0.07788	T	0.017655	0.39446	T	0.254	0.56428	.	.	0.648488047482	0.64556	0.4429605405053909	0.44213	0.701817640495	0.61187	0.457322955132	0.32943	T	0.169368	0.51672	T	-0.336714	0.05620	T	-0.286522	0.46132	T	0.0992458674830501	0.12274	T	0.975102	0.91204	D	0.50331503	0.67289	0.5226219	0.72420	0.50331503	0.67290	0.5226219	0.72420	-9.935	0.73522	D	.	.	0.213	0.44108	B	.	.	4.350618	0.66821	25.0	0.99871826067089153	0.94902	0.96849	0.71272	D	AEFBI	0.727118	0.67556	D	0.50917805574692	0.67631	5.10743	0.526738492434318	0.69796	5.411642	0.999999454663143	0.74766	0.643511	0.44296	0	0.59043	0.45803	0	0.688494	0.62686	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	5.875000	0.69407	4.015000	0.41197	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.311	0.65971	809	0.43032	CRC domain|Tesmin/TSO1-like CXC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.011364	0.05	1202.43	39	chr11	68710994	.	T	C	1202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.371;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.29;SOR=0.715	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1264	9	0	1	0
chr11	70485536	70485536	G	A	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_133266:exon10:c.C2993T:p.P998L,SHANK2:NM_001379226:exon15:c.C3620T:p.P1207L,SHANK2:NM_012309:exon25:c.C4757T:p.P1586L	.	0	1510	12	0	0	12	0.00395778	.	.	.	429300	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.243	0.00736897601375	0.0005	0.000798722	0.0009	0.0003	0.0020	0.0001	0.0002	0.0008	0.0034	0.0011	0.0007438	115	154602	rs141276059	0.0005	0.0005	0.0005	0.0006	0.0061	0.0005	0.0005	0.0045	0.0039	8.965e-05	0.0012	0.0002	7.558e-05	7.669e-05	0.0061	0.0005	0.0007	0.0010	0.0005	0.0005	0.0004	0.0006	0.0010	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0007	0	0.0002	9.413e-05	0.0034	0.0006	0.0014	0.0010	0.282	0.15406	T	0.213	0.32783	T	1.0	0.90584	D	0.965	0.71173	D	0.002364	0.36688	N	0.303615	1	0.81001	D	.	.	.	2.3	0.16953	T	-2.08	0.51968	N	0.706	0.70966	-0.6621	0.62183	T	0.267	0.63802	T	10	0.020084053	0.00457	T	0.007369	0.19550	T	0.243	0.54921	.	.	0.407756890619	0.40387	0.44224824751881076	0.44141	1.08839014556	0.77365	0.560610234737	0.47354	T	0.081632	0.44803	T	-0.368601	0.03665	T	-0.34278	0.40030	T	0.0466424202302685	0.04900	T	0.923008	0.73814	D	.	.	.	.	.	.	.	.	-5.112	0.38033	T	.	.	0.082	0.09336	B	.;.;.;.;.	.;.;.;.;.	4.606448	0.73013	25.9	0.99871771017845923	0.94902	0.99726	0.98997	D	AEFBI	0.936848	0.93377	D	0.721045257409842	0.81010	7.423541	0.668676826902273	0.80008	7.204466	0.999999995611223	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	9.075000	0.93411	9.784000	0.81612	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:1.0:0.0	19.230	0.93824	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.008772	0.000000	0.000000	0.006098	0.003788	0.05	5247.43	42	chr11	70485536	.	G	A	5247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.696;DP=655;ExcessHet=0;FS=4.351;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.588;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1247	9	0	1	0
chr11	70798550	70798550	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_001379226:exon4:c.G533A:p.S178N,SHANK2:NM_012309:exon14:c.G1670A:p.S557N	.	0	1508	14	0	0	14	0.00462046	.	.	.	2813475	not_provided|SHANK2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.145	0.0309722428644	0.0028	0.00339457	0.0039	0.0033	0.0073	0	0	0.0054	0.0052	0.0029	0.0009573	148	154602	rs141184740	0.0027	0.0024	0.0027	0.0027	0.0093	0.0026	0.0025	0.0075	0.0070	0.0087	0.0049	0.0123	0	4.082e-05	0.0093	0.0018	0.0060	0.0028	0.0037	0.0037	0.0037	0.0038	0.0069	0.0035	0.0034	0.0059	0.0055	0.0062	0	0.0069	0.0124	0	0	0.0068	0.0019	0.0114	0.0021	.	.	.	0.042	0.50226	D	0.997	0.70673	D	0.99	0.78936	D	0.000066	0.52346	U	0.073330	0.969965	0.38764	D	.	.	.	3.0	0.09167	T	.	.	.	0.686	0.69213	-1.1491	0.01052	T	0.054	0.22883	T	10	0.01044476	0.00232	T	0.030972	0.53161	D	.	.	.	.	0.353785824208	0.34994	.	.	.	.	0.851025700569	0.89770	D	.	.	.	-0.543089	0.00321	T	-0.549439	0.17381	T	0.0192810455869317	0.00634	T	0.90091	0.65583	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.889	0.82028	P	.	.	4.483212	0.69966	25.5	0.99492766276178901	0.67573	0.90012	0.50864	D	AEFDBI	0.721112	0.67146	D	0.603761567431857	0.73412	5.961941	0.554669799547695	0.71721	5.698465	0.523376809360585	0.21115	0.562547	0.31514	0	0.547309	0.14657	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	5.394000	0.66031	7.254000	0.57939	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.004	0.63967	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020227	0.062500	0.023256	0.003676	0.000000	0.017857	0.000000	0.000000	0.05	1395.43	35	chr11	70798550	.	C	T	1395.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=441;ExcessHet=0;FS=6.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.647;SOR=1.222	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1139	9	0	1	0
chr11	71464114	71464114	C	T	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon5:c.C379T:p.R127C	.	424	1096	2	0	0	2	0.000911577	.	.	YES	2334034	Inborn_genetic_diseases|Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_3	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030077,MedGen:C5394250,OMIM:618845	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.810	0.428217167014	0.0002	0.000399361	0.0002	0.0003	0	0	0	0.0002	0	0.0006	0.0001488	23	154602	rs201096943	9.936e-05	0.0001	7.496e-05	0.0001	0.0014	8.593e-05	8.061e-05	0.0007	0.0006	5.978e-05	2.248e-05	0	0	0	0.0014	5.85e-05	1.658e-05	0.0008	6.564e-05	6.561e-05	7.707e-05	5.369e-05	0.0002	3.513e-05	2.614e-05	4.726e-05	3.044e-05	0.0001	0	0	0	0	0	0	4.41e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.064437	1	0.81001	D	4.2	0.97819	H	-2.37	0.88220	D	-7.66	0.95511	D	0.984	0.99337	1.037	0.97843	D	0.887	0.96245	D	10	0.93220305	0.92556	D	0.428217	0.93930	D	0.810	0.93854	.	.	0.971196106428	0.97088	0.9500477620788291	0.94987	0.824320894434	0.67312	0.702453434467	0.67498	T	0.439921	0.78502	T	0.200691	0.73958	D	0.409084	0.92404	D	0.993123471736908	0.83805	D	0.998579	0.99241	D	0.9287986	0.94117	0.8242516	0.89812	0.9287986	0.94118	0.8242516	0.89812	-9.922	0.73443	D	0.9010487672091724	0.95249	0.242	0.47665	B	.	.	5.194379	0.87129	29.1	0.99928950537951367	0.99279	0.94326	0.60810	D	AEFDGBI	0.756877	0.69600	D	0.765233528529102	0.83892	8.138265	0.603363487408943	0.75183	6.265837	0.999999986815942	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	3.757000	0.54924	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:1.0:0.0:0.0	15.688	0.77182	636	0.64483	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1475.43	33	chr11	71464114	.	C	T	1475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.617;DP=400;ExcessHet=0;FS=0.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.12;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1310	9	0	1	0
chr11	71480845	71480845	G	A	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon11:c.G964A:p.E322K	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00487910327781	.	0.00119808	0.0003	9.634e-05	0.0003	0.0028	0	0	0	0.0007	0.0003428	53	154602	rs138969547	0.0002	0.0002	0.0001	0.0002	0.0023	0.0002	0.0002	0.0020	0.0018	8.961e-05	0.0001	0	0.0023	0	0.0002	5.396e-05	0.0004	0.0008	0.0003	0.0003	0.0003	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0.0001	0	0.0005	0	0.0035	0	0	2.94e-05	0.0005	0.0008	0.45	0.08996	T	0.511	0.10785	T	0.028	0.19712	B	0.016	0.17743	B	0.056501	0.22556	N	0.454317	0.99816	0.44581	D	1.3	0.32576	L	1.0	0.41392	T	-2.06	0.47175	N	0.391	0.43223	-1.0638	0.10831	T	0.071	0.29066	T	10	0.009809256	0.00220	T	0.004879	0.12255	T	0.021	0.04004	.	.	0.450248222533	0.44647	0.31706720317148024	0.31619	0.192125319387	0.21544	0.476927310228	0.35634	T	0.025349	0.18971	T	-0.510618	0.00498	T	-0.508034	0.21517	T	0.0302879415124817	0.02035	T	0.946705	0.79569	D	0.074165486	0.16626	0.04744188	0.06833	0.074165486	0.16626	0.04744188	0.06833	-7.892	0.60332	D	0.13708531167825502	0.15050	0.065	0.01960	B	.	.	2.500418	0.32279	18.99	0.97421627275056066	0.33880	0.66695	0.33168	D	AEFDBCI	0.189110	0.31638	N	-0.304198365470147	0.28989	1.603595	-0.258762481670348	0.29470	1.651354	0.381360808641091	0.19963	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.94	1.82	0.24209	2.563000	0.45585	.	.	0.676000	0.76740	1.000000	0.71638	0.002000	0.18203	0.810000	0.38174	0.1039:0.5112:0.3848:0.0	7.829	0.28492	628	0.65206	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1022.43	114	chr11	71480845	.	G	A	1022.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=445;ExcessHet=0;FS=3.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.316;SOR=0.435	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1366	9	0	1	0
chr11	71484352	71484352	G	A	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon15:c.G1360A:p.V454I	.	425	1081	16	0	0	16	0.00734619	.	.	.	3214684	NADSYN1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0002	0.00399361	0.0027	9.615e-05	0.0003	0.0001	0	1.5e-05	0.0077	0.0189	0.0022639	350	154602	rs148415329	0.0011	0.0011	0.0006	0.0016	0.0170	0.0011	0.0011	0.0163	0.0160	2.987e-05	0.0002	3.826e-05	2.519e-05	0	0.0016	5.756e-05	0.0013	0.0170	0.0005	0.0005	0.0003	0.0008	0.0151	0.0004	0.0004	0.0123	0.0113	7.213e-05	0	6.531e-05	0	0	0	0	2.939e-05	0.0005	0.0151	0.792	0.06735	T	0.836	0.07150	T	0.0	0.02946	B	0.004	0.10090	B	0.700319	0.10100	N	0.832386	0.999735	0.20745	N	-0.67	0.02046	N	0.98	0.42122	T	-0.02	0.08340	N	0.195	0.24634	-0.9915	0.32218	T	0.041	0.17530	T	10	0.0025158525	0.00038	T	.	.	.	0.062	0.17934	.	.	0.314716216878	0.31082	0.26289276608385903	0.26202	0.136715592269	0.15421	0.311885774136	0.12192	T	0.027959	0.20357	T	-0.622557	0.00106	T	-0.652756	0.08762	T	0.00427529198014189	0.00046	T	0.864413	0.56401	D	0.090329	0.21133	0.045137636	0.06006	0.090329	0.21133	0.045137636	0.06006	-5.864	0.45127	T	0.08658108714127821	0.04998	0.066	0.04477	B	.;.;.	.;.;.	-0.214152	0.03019	0.460	0.71500890905536363	0.09650	0.36589	0.25567	N	AEFGBCI	0.041965	0.06451	N	-1.12421428740996	0.06215	0.2854839	-1.09787123593027	0.07742	0.377797	0.037599251593802	0.14305	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-3.57	0.04316	0.189000	0.16845	.	.	-0.113000	0.14837	0.043000	0.21118	0.000000	0.08366	0.644000	0.32530	0.6271:0.1526:0.2204:0.0	6.357	0.20613	628	0.65206	NAD/GMP synthase;NAD/GMP synthase;NAD/GMP synthase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.018939	0.05	1885.43	34	chr11	71484352	.	G	A	1885.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.413;DP=490;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.658;SOR=0.87	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1298	9	0	1	0
chr11	71527509	71527509	G	C	exonic	KRTAP5-7	.	nonsynonymous SNV	KRTAP5-7:NM_001012503:exon1:c.G209C:p.C70S	.	425	1080	14	3	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160004821466	0.0009	0.000998403	0.0015	0.0003	0.0008	0	0	0.0018	0	0.0031	0.0013519	209	154602	rs199516478	0.0009	0.0009	0.0008	0.0010	0.0077	0.0008	0.0008	0.0058	0.0051	0.0002	0.0006	0.0091	0	0.0001	0.0077	0.0006	0.0014	0.0027	0.0010	0.0010	0.0011	0.0008	0.0021	0.0009	0.0008	0.0011	0.0009	9.695e-05	0	0.0013	0.0127	0	9.477e-05	0.0034	0.0009	0.0024	0.0021	0.0	0.91255	D	0.083	0.41405	T	0.871	0.47859	P	0.135	0.33210	B	.	.	.	.	0.991795	0.23982	N	2.875	0.83380	M	4.64	0.01799	T	-1.21	0.30762	N	0.214	0.23884	-0.9648	0.38250	T	0.006	0.01870	T	9	0.0050088167	0.00108	T	0.002	0.02574	T	0.069	0.20116	0.249	0.18602	0.043077524339	0.03247	0.024086599645979756	0.02359	0.0114129139534	0.01068	.	.	.	0.005037	0.04473	T	-0.479888	0.00740	T	-0.465153	0.26041	T	0.0765461762820738	0.09539	T	0.207979	0.02486	T	0.7362873	0.80080	0.5179825	0.72150	0.7362873	0.80082	0.5179825	0.72151	-11.531	0.82492	D	.	.	0.27	0.50417	B	.	.	1.657634	0.21145	15.07	0.75624857324298111	0.11147	0.37596	0.25797	N	AEFDBCI	0.146731	0.27024	N	-0.20482667406607	0.32935	1.862953	-0.256948208885445	0.29533	1.655342	0.639059402723984	0.22036	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.46	2.46	0.29032	2.662000	0.46431	.	.	0.327000	0.19478	0.324000	0.25538	0.749000	0.26537	0.025000	0.12405	0.1709:0.0:0.8291:0.0	5.810	0.17722	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005808	0.005051	0.008152	0.016000	0.050000	0.000000	0.000000	0.000000	0.05	1680.43	143	chr11	71527509	.	G	C	1680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.899;DP=896;ExcessHet=0;FS=7.453;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=0.98;QD=11.75;ReadPosRankSum=0.014;SOR=0.339	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	9	0	1	0
chr11	71549001	71549001	G	T	exonic	KRTAP5-9	.	nonsynonymous SNV	KRTAP5-9:NM_005553:exon1:c.G344T:p.C115F	.	407	1101	12	0	2	14	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0038	0.000399361	0.0035	0.0006	0.0016	0	0.0005	0.0055	0.0110	0.0013	0.0033893	524	154602	rs117137984	0.0039	0.0039	0.0038	0.0039	0.0150	0.0038	0.0038	0.0124	0.0115	0.0005	0.0022	0.0300	2.519e-05	0.0003	0.0150	0.0038	0.0055	0.0016	0.0029	0.0028	0.0030	0.0027	0.0037	0.0026	0.0025	0.0033	0.0032	0.0007	0	0.0022	0.0269	0	0.0002	0.0139	0.0037	0.0053	0.0008	0.0	0.91255	D	0.003	0.76473	D	0.523	0.37559	P	0.299	0.41006	B	.	.	.	.	0.999813	0.20249	N	3.77	0.95173	H	3.82	0.03728	T	-6.3	0.90771	D	0.204	0.22614	-1.0319	0.19841	T	0.015	0.06282	T	9	0.005451739	0.00120	T	.	.	.	0.052	0.14661	.	.	0.306695030598	0.30287	.	.	0.147936380739	0.16687	.	.	.	0.100477	0.40632	T	-0.472536	0.00820	T	-0.449208	0.27785	T	0.128075466859228	0.15202	T	0.308669	0.05963	T	0.41504446	0.61760	0.40688035	0.65049	0.41504446	0.61760	0.40688035	0.65049	-8.074	0.61574	D	.	.	0.107	0.20038	B	.	.	1.659236	0.21164	15.08	0.82675549680281257	0.14316	0.09305	0.15088	N	AEFDBCI	0.082756	0.16760	N	-0.302047688813159	0.29071	1.608899	-0.499828655849234	0.22159	1.202206	0.999798386518099	0.43153	0.559995	0.30671	0	0.624146	0.53433	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.21	1.21	0.20240	4.878000	0.62786	.	.	0.575000	0.29119	0.357000	0.25817	0.034000	0.21380	0.002000	0.04165	0.2633:0.0:0.7366:0.0	3.524	0.07311	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013742	0.005051	0.013587	0.008197	0.050000	0.017241	0.030488	0.007576	0.05	3896.43	34	chr11	71549001	.	G	T	3896.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=752;ExcessHet=0;FS=0.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.395;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1163	9	0	1	0
chr11	71549005	71549007	CTC	-	exonic	KRTAP5-9	.	nonframeshift deletion	KRTAP5-9:NM_005553:exon1:c.348_350del:p.S119del	.	408	1111	2	0	1	3	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	.	1.371e-06	1.37e-06	0	2.756e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5005.39	34	chr11	71549004	.	GCTC	G	5005.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=760;ExcessHet=0;FS=1.424;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=0.923;QD=17.44;ReadPosRankSum=0.957;SOR=0.809	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1163	9	0	1	0
chr11	72013358	72013358	C	T	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G4145A:p.R1382H,NUMA1:NM_001286561:exon16:c.G4145A:p.R1382H	Leukemia, acute promyelocytic, somatic	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.0145264443296	.	.	2.631e-05	0.0001	8.878e-05	0	0	1.608e-05	0	0	1.94e-05	3	154602	rs749712733	7.55e-06	8.893e-06	6.831e-06	8.275e-06	2.988e-05	4.05e-06	2.96e-06	2.62e-06	1.68e-06	2.988e-05	2.238e-05	0	2.52e-05	0	0	6.296e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.68238	D	0.07	0.56192	T	0.045	0.90584	B	0.019	0.72001	B	0.000076	0.52346	D	0.000000	1	0.81001	D	0.805	0.20218	L	2.44	0.15145	T	-1.37	0.33998	N	0.299	0.42149	-0.9454	0.41748	T	0.089	0.34298	T	10	0.07819775	0.12435	T	0.014526	0.34707	T	0.082	0.23913	0.102	0.01589	0.377493895363	0.37364	0.163406668039547	0.16260	0.387000595785	0.39991	0.453215956688	0.32383	T	0.094911	0.39514	T	-0.206314	0.19900	T	-0.534132	0.18876	T	0.201791420578957	0.20514	T	0.842116	0.51841	T	0.06531672	0.13945	0.07115553	0.15205	0.06531672	0.13945	0.07115553	0.15204	-6.277	0.48540	T	.	.	0.092	0.25495	B	.;.;.;.	.;.;.;.	4.464170	0.69511	25.4	0.99872679185709534	0.94989	0.33187	0.24767	N	ALL	0.076647	0.15424	N	-0.320282460025844	0.28378	1.564764	-0.282938244284944	0.28660	1.600	0.999999997599055	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	0.991000	0.29255	.	.	-0.176000	0.10722	0.155000	0.23727	0.980000	0.30356	0.879000	0.42020	0.0:0.762:0.0:0.238	8.345	0.31430	544	0.72685	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	566.43	34	chr11	72013358	.	C	T	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.58;DP=387;ExcessHet=0;FS=5.248;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=0.245;SOR=1.305	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1383	9	0	1	0
chr11	72014238	72014238	G	C	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.C3265G:p.Q1089E,NUMA1:NM_001286561:exon16:c.C3265G:p.Q1089E	Leukemia, acute promyelocytic, somatic	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00188114452155	0.0004	0.000798722	0.0009	9.688e-05	0.0003	0	0.0009	0.0006	0.0011	0.0030	0.0007438	115	154602	rs147873282	0.0007	0.0007	0.0006	0.0008	0.0025	0.0007	0.0007	0.0022	0.0021	5.974e-05	0.0003	0.0037	0	0.0007	0.0017	0.0006	0.0008	0.0025	0.0006	0.0006	0.0006	0.0006	0.0019	0.0005	0.0005	0.0010	0.0007	0.0002	0	0.0001	0.0023	0	0.0015	0	0.0007	0.0005	0.0019	0.272	0.15930	T	0.807	0.07999	T	0.0	0.02946	B	0.0	0.04355	B	0.894660	0.07317	N	1.054400	1	0.08975	N	1.525	0.38595	L	2.84	0.10674	T	0.5	0.04306	N	0.057	0.06990	-0.9568	0.39771	T	0.018	0.07423	T	9	0.0072698295	0.00165	T	0.001881	0.03299	T	0.038	0.09825	.	.	0.246926113748	0.24311	0.041346511919532654	0.04079	0.376394756243	0.39079	0.241194188595	0.02898	T	0.053795	0.29543	T	-0.684952	0.00045	T	-0.760654	0.03089	T	0.0102288284425673	0.00139	T	0.721228	0.33447	T	0.042275786	0.06381	0.041741006	0.04812	0.042275786	0.06381	0.041741006	0.04812	-2.89	0.09054	T	.	.	0.080	0.07985	B	.;.;.;.	.;.;.;.	1.193002	0.15842	12.14	0.67876808608349648	0.08487	0.24602	0.22444	N	AEFDGBCIJ	0.081487	0.16488	N	-0.782249958276092	0.13772	0.6809365	-0.766044960950279	0.15329	0.8056323	0.999990438604095	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.58	2.58	0.30011	0.441000	0.21325	.	.	0.676000	0.76740	0.000000	0.06391	0.996000	0.32793	0.686000	0.33718	0.0933:0.3932:0.3759:0.1376	4.014	0.09123	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2407.43	34	chr11	72014238	.	G	C	2407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.644;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.995;SOR=0.733	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1383	9	0	1	0
chr11	72136070	72136070	G	A	exonic	FOLR3	.	nonsynonymous SNV	FOLR3:NM_000804:exon2:c.G118A:p.A40T	.	245	1276	0	1	0	2	0.000783085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.021060005595	.	0.00179712	0.0002	0.0026	0	0	0	0	0	6.056e-05	0.0003458	9	26028	rs576868891	2.463e-05	8.209e-05	3.268e-05	1.651e-05	0.0002	1.803e-05	1.601e-05	7.857e-05	5.334e-05	0.0002	8.948e-05	0	0	0	0	2.069e-05	3.313e-05	1.159e-05	5.911e-05	9.844e-05	7.711e-05	4.029e-05	0.0002	3.076e-05	2.209e-05	7.879e-05	5.58e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.077	0.34095	T	0.133	0.37310	T	.	.	.	.	.	.	0.005443	0.32788	U	0.186618	0.542498	0.31596	N	.	.	.	0.33	0.58323	T	-3.4	0.67014	D	0.192	0.21188	-0.4954	0.68815	T	0.294	0.66536	T	9	0.013901025	0.00293	T	0.02106	0.43768	T	0.178	0.44724	.	.	0.696644649877	0.69402	0.5062872070973268	0.50550	.	.	0.353753149509	0.18473	T	0.241689	0.61027	T	-0.0781434	0.40017	T	-0.350024	0.39203	T	0.454821854829788	0.30974	T	0.768423	0.40135	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.49528	B	.;.;.;.	.;.;.;.	1.625092	0.20752	14.89	0.99717372481915412	0.81773	0.62165	0.31699	D	AEFDGBHCI	0.125624	0.24221	N	-0.359697741943541	0.26918	1.472826	-0.480492004015412	0.22692	1.233763	0.999996881911163	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	3.79	0.692	0.17213	2.049000	0.40912	0.028000	0.13690	0.347000	0.19874	0.963000	0.33788	0.000000	0.08366	0.054000	0.15518	0.2895:0.0:0.7105:0.0	8.069	0.29841	609	0.67094	Folate receptor-like;Folate receptor-like;Folate receptor-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2503.43	34	chr11	72136070	.	G	A	2503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.701;DP=560;ExcessHet=0;FS=2.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.172;SOR=0.621	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	9	0	1	0
chr11	72707261	72707261	G	C	exonic	ARAP1	.	nonsynonymous SNV	ARAP1:NM_001135190:exon10:c.C902G:p.P301R,ARAP1:NM_001369489:exon10:c.C902G:p.P301R,ARAP1:NM_015242:exon10:c.C902G:p.P301R,ARAP1:NM_001040118:exon12:c.C1637G:p.P546R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0111529429734	.	.	0.0003	0	0	0	0	0	0	0.0021	0.0001876	29	154602	rs200795098	0.0001	0.0001	5.994e-05	0.0002	0.0018	9.813e-05	9.229e-05	0.0015	0.0015	0	0	0	2.522e-05	0	0.0004	7.197e-06	1.657e-05	0.0018	4.594e-05	4.593e-05	1.284e-05	8.054e-05	0.0010	2.107e-05	1.525e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.94e-05	0	0.0010	0.013	0.57480	D	0.002	0.79402	D	0.631	0.40217	P	0.244	0.38795	B	0.005522	0.32720	N	0.290298	0.567788	0.31203	N	1.04	0.26193	L	1.04	0.40218	T	-2.07	0.47344	N	0.375	0.47301	-0.8143	0.54288	T	0.099	0.36882	T	10	0.068202615	0.09614	T	0.011153	0.28477	T	0.072	0.21020	0.571	0.69431	0.388812400583	0.38497	0.39529748918512464	0.39444	0.615807059448	0.56063	0.452424734831	0.32275	T	0.084865	0.37373	T	-0.393413	0.02556	T	-0.367966	0.37126	T	0.133744613962502	0.15723	T	0.957954	0.84201	D	0.15275438	0.34659	0.13087527	0.31437	0.15275438	0.34659	0.13087527	0.31436	-10.28	0.76271	D	.	.	0.129	0.38711	B	.;.;.;.;.;.	.;.;.;.;.;.	3.703448	0.52832	23.3	0.99676297989367746	0.78912	0.94373	0.60959	D	AEFGBI	0.346532	0.44132	N	0.0621063225565731	0.44702	2.739408	0.174236628021113	0.48438	3.059866	0.999815661526018	0.43459	0.706548	0.73137	0	0.702456	0.74545	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	3.518000	0.53208	8.594000	0.77699	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0:0.0:1.0:0.0	15.895	0.79110	449	0.79428	.;.;.;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;Arf GTPase activating protein|Arf GTPase activating protein|Arf GTPase activating protein;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	883.43	66	chr11	72707261	.	G	C	883.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.001;SOR=0.582	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	9	0	1	0
chr11	73310209	73310209	C	T	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C1571T:p.A524V	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0038	0.00219649	0.0029	0.0012	0.0035	0	0.0003	0.0040	0.0056	0.0019	0.0030465	471	154602	rs61758707	0.0035	0.0035	0.0034	0.0036	0.0055	0.0035	0.0034	0.0040	0.0037	0.0013	0.0033	0.0080	0	0.0004	0.0055	0.0039	0.0032	0.0023	0.0033	0.0033	0.0034	0.0032	0.0074	0.0031	0.0030	0.0063	0.0059	0.0011	0	0.0074	0.0066	0	0.0011	0.0068	0.0043	0.0052	0.0017	0.006	0.61437	D	0.063	0.45110	T	0.0	0.02946	B	0.001	0.04355	B	0.310160	0.04010	N	1.478380	1	0.08975	N	0.55	0.14455	N	0.38	0.57575	T	-0.42	0.14193	N	0.041	0.01421	-1.0115	0.26447	T	0.069	0.28379	T	10	0.0037102997	0.00068	T	.	.	.	0.080	0.23350	.	.	0.231005064126	0.22704	0.148855463160789	0.14807	0.379407620271	0.39337	0.335350215435	0.15740	T	0.014509	0.12336	T	-0.634755	0.00089	T	-0.682223	0.06848	T	0.000492125526900444	0.00004	T	0.606339	0.22814	T	0.051751472	0.09549	0.044074226	0.05627	0.051751472	0.09549	0.044074226	0.05627	-3.735	0.19835	T	.	.	0.070	0.03301	B	.	.	0.122064	0.05193	1.707	0.91598573106498904	0.20881	0.13038	0.17627	N	AEFDGBCI	.	.	.	-1.18622771037472	0.05208	0.2368573	-1.21942541963487	0.05598	0.2671778	0.999989269551639	0.51787	0.676563	0.55306	0	0.541556	0.11502	0	0.673471	0.61138	0	0.638787	0.57140	0	.	.	4.62	-1.47	0.08312	0.202000	0.17094	0.518000	0.19139	-0.182000	0.10109	0.000000	0.06391	0.002000	0.18203	0.039000	0.14166	0.0:0.3198:0.2952:0.385	4.817	0.12738	625	0.65529	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.010101	0.002717	0.005848	0.100000	0.000000	0.000000	0.000000	0.05	936.43	39	chr11	73310209	.	C	T	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.089;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.335;SOR=0.715	GT:AD:DP:GQ:PL	0/1:52,40:92:99:948,0,1419	9	0	1	0
chr11	73311051	73311051	C	G	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C2413G:p.Q805E	.	417	1084	20	1	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0002	0.00319489	0.0019	0	0.0002	0	0	0.0001	0.0022	0.0133	0.0016753	259	154602	rs146497753	0.0009	0.0009	0.0005	0.0013	0.0137	0.0009	0.0008	0.0131	0.0128	2.987e-05	0.0001	0	0	0	0.0031	5.576e-05	0.0008	0.0137	0.0004	0.0004	0.0002	0.0006	0.0106	0.0003	0.0003	0.0083	0.0074	2.406e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0106	0.007	0.59928	D	0.036	0.52060	D	0.081	0.24602	B	0.007	0.12992	B	0.053518	0.22802	N	0.370462	0.998278	0.22253	N	1.61	0.41143	L	0.49	0.55775	T	-0.38	0.13418	N	0.274	0.31027	-0.9934	0.31722	T	0.098	0.36600	T	10	0.0047130883	0.00099	T	.	.	.	0.060	0.17295	.	.	0.450326921165	0.44653	0.180490145819556	0.17968	0.448488106829	0.44675	0.330097079277	0.14949	T	0.010495	0.09475	T	-0.458662	0.01002	T	-0.419288	0.31157	T	0.0291780304111627	0.01865	T	0.772323	0.40326	T	0.18583928	0.39965	0.15137646	0.35662	0.18583928	0.39965	0.15137646	0.35661	-3.249	0.13088	T	.	.	0.070	0.03407	B	.	.	3.313446	0.45536	22.1	0.97018756912290371	0.32018	0.79887	0.39677	D	AEFDGBI	.	.	.	-0.192599689152137	0.33441	1.897307	-0.047469029488281	0.37599	2.203716	0.999998881283067	0.74766	0.722319	0.85440	0	0.586065	0.33999	0	0.673471	0.61138	0	0.735409	0.98432	0	.	.	4.41	4.41	0.52588	2.804000	0.47628	5.983000	0.52202	0.597000	0.34315	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.3162:0.6838:0.0:0.0	9.807	0.39967	631	0.64944	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.05	1428.43	39	chr11	73311051	.	C	G	1428.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=426;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.402;SOR=0.52	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1332	9	0	1	0
chr11	73409529	73409529	C	T	exonic	FAM168A	.	nonsynonymous SNV	FAM168A:NM_015159:exon6:c.G553A:p.A185T,FAM168A:NM_001286050:exon7:c.G580A:p.A194T	.	432	1086	4	0	0	4	0.00183824	.	.	.	2334335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00560266247626	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs749363209	9.646e-05	9.645e-05	8.713e-05	0.0001	0.0003	8.31e-05	7.85e-05	0.0003	0.0002	2.988e-05	0	0.0023	0	0	0.0003	2.968e-05	0.0002	0.0003	5.256e-05	5.253e-05	5.138e-05	5.379e-05	0.0002	2.557e-05	1.83e-05	.	.	0	0	0	0.0017	0	0	0	1.47e-05	0	0.0002	0.995	0.01946	T	0.47	0.12246	T	0.004	0.12183	B	0.005	0.11217	B	0.000005	0.62929	N	0.141280	1	0.81001	D	0.765	0.19305	N	.	.	.	-0.31	0.12099	N	0.27	0.42443	-1.0537	0.13386	T	0.089	0.34325	T	9	0.026479363	0.00813	T	0.005603	0.14469	T	0.198	0.48105	.	.	0.268702046668	0.26493	0.5218479527415555	0.52107	0.51941192357	0.49764	0.715816557407	0.69437	T	0.032444	0.22488	T	-0.208695	0.19564	T	-0.231575	0.51619	T	0.022542392393728	0.00970	T	0.771423	0.40183	T	0.052433547	0.09778	0.09502031	0.22517	0.052433547	0.09777	0.09502031	0.22516	-7.85	0.60043	D	.	.	0.095	0.14933	B	.;.	.;.	3.364205	0.46455	22.3	0.8461286267775262	0.15394	0.89595	0.50160	D	AEFDBI	0.213674	0.33923	N	-0.447722367528812	0.23817	1.281727	-0.226560136498318	0.30588	1.723555	0.999999044335715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	3.71	0.41733	1.626000	0.36650	4.877000	0.45627	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8472:0.0:0.1528	10.694	0.45083	389	0.83303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2356.43	38	chr11	73409529	.	C	T	2356.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.631;DP=536;ExcessHet=0;FS=3.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.096;SOR=0.895	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	9	0	1	0
chr11	73873324	73873324	C	T	exonic	COA4	.	nonsynonymous SNV	COA4:NM_016565:exon2:c.G55A:p.D19N	.	428	1075	18	1	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00690841429181	0.0028	0.00159744	0.0025	0.0006	0.0029	0	0.0014	0.0035	0.0011	0.0015	0.0026132	404	154602	rs35586999	0.0028	0.0028	0.0028	0.0028	0.0128	0.0027	0.0027	0.0105	0.0096	0.0007	0.0030	0.0098	0	0.0008	0.0128	0.0029	0.0031	0.0018	0.0024	0.0024	0.0024	0.0024	0.0042	0.0022	0.0021	0.0034	0.0031	0.0006	0	0.0042	0.0101	0.0002	0.0007	0.0068	0.0031	0.0052	0.0017	0.128	0.32769	T	0.117	0.39799	T	0.009	0.15093	B	0.002	0.06944	B	0.000881	0.41335	N	0.265322	0.864169	0.36476	D	.	.	.	.	.	.	-1.23	0.31170	N	0.047	0.06454	-0.8626	0.51075	T	0.109	0.39462	T	8	0.0034405887	0.00060	T	0.006908	0.18289	T	0.095	0.27398	.	.	0.126345400529	0.12197	0.20150996363262594	0.20067	0.147553722953	0.16648	0.292893588543	0.09346	T	0.095396	0.39612	T	-0.620685	0.00109	T	-0.665504	0.07899	T	0.00855524906830741	0.00104	T	0.724828	0.33863	T	0.032360557	0.03247	0.039785765	0.04151	0.032360557	0.03247	0.039785765	0.04150	-6.736	0.55875	T	.	.	0.074	0.08368	B	.;.;.;.	.;.;.;.	2.957050	0.39368	20.9	0.99162612910782988	0.54155	0.86920	0.46311	D	AEFBCI	0.520474	0.54532	D	-0.261633926331057	0.30642	1.710448	-0.17794341175471	0.32349	1.839553	0.9999999997971	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	4.44	0.53164	3.426000	0.52545	2.177000	0.31099	0.596000	0.33519	0.960000	0.33603	0.034000	0.21380	0.457000	0.28051	0.0:0.918:0.0:0.082	12.270	0.54017	226	0.91233	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.012228	0.011696	0.000000	0.008621	0.000000	0.000000	0.05	1363.43	36	chr11	73873324	.	C	T	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.937;DP=440;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.621;SOR=0.531	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr11	73968409	73968409	G	A	exonic	DNAJB13	.	nonsynonymous SNV	DNAJB13:NM_153614:exon6:c.G671A:p.R224H,DNAJB13:NM_001377263:exon7:c.G497A:p.R166H	Ciliary dyskinesia, primary, 34, Autosomal recessive	427	1092	3	0	0	3	0.00137174	.	.	.	713160	not_provided|Cough	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012735,MedGen:C0010200	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.204	0.0789219970916	0.0038	0.000599042	0.0032	0.0011	0.0026	0	0.0014	0.0050	0.0022	0.0004	0.0035122	543	154602	rs147921001	0.0049	0.0049	0.0050	0.0047	0.0059	0.0048	0.0047	0.0057	0.0057	0.0010	0.0028	0.0001	2.519e-05	0.0021	0.0021	0.0059	0.0047	0.0003	0.0035	0.0035	0.0038	0.0033	0.0060	0.0033	0.0032	0.0055	0.0053	0.0012	0.0022	0.0026	0	0	0.0027	0.0034	0.0060	0.0043	0.0002	0.034	0.44029	D	0.009	0.66756	D	0.563	0.38396	P	0.081	0.28987	B	0.004046	0.34172	N	0.325774	0.864898	0.29192	N	2.32	0.66415	M	0.83	0.47815	T	-2.71	0.57762	D	0.387	0.42834	-0.7892	0.55776	T	0.088	0.34133	T	10	0.026716858	0.00832	T	0.078922	0.73116	D	0.204	0.49076	.	.	0.588082203375	0.58483	0.3847448005600294	0.38389	0.310688442189	0.33380	0.465925395489	0.34122	T	0.073734	0.34768	T	-0.435007	0.01384	T	-0.393489	0.34142	T	0.025827139741923	0.01382	T	0.921208	0.72041	D	0.116691545	0.27520	0.08889295	0.20755	0.11710543	0.27613	0.08738388	0.20307	-7.448	0.57243	T	0.18673874751455136	0.24320	0.096	0.27553	B	.;.;.	.;.;.	4.113361	0.61430	24.3	0.99858134068463411	0.93639	0.54273	0.29575	D	AEFDBCI	0.245647	0.36654	N	0.2118729314998	0.51773	3.356081	0.294554538480526	0.55220	3.68534	0.99978028436012	0.43007	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	5.23	5.23	0.72570	1.918000	0.39636	9.811000	0.81748	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1695:0.0:0.8305:0.0	8.210	0.30638	262	0.89730	Chaperone DnaJ, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.020202	0.002717	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	3329.43	248	chr11	73968409	.	G	A	3329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.513;DP=576;ExcessHet=0;FS=4.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.003;SOR=0.478	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	9	0	1	0
chr11	74034038	74034038	G	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon31:c.C6122T:p.A2041V	.	428	1046	45	3	0	51	0.0237984	.	.	.	1636264	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	.	0.00419329	0.0103	0.0029	0.0105	0	0.0012	0.0118	0.0155	0.0121	0.0024903	385	154602	rs145765035	0.0102	0.0097	0.0100	0.0105	0.0207	0.0101	0.0100	0.0177	0.0165	0.0013	0.0088	0.0141	2.798e-05	0.0021	0.0207	0.0107	0.0105	0.0144	0.0072	0.0072	0.0069	0.0076	0.0149	0.0069	0.0067	0.0122	0.0111	0.0019	0	0.0105	0.0118	0.0006	0.0020	0.0170	0.0103	0.0104	0.0149	0.357	0.12032	T	1.0	0.01155	T	.	.	.	.	.	.	0.303068	0.14564	N	0.568389	1	0.08975	N	0.69	0.16971	N	2.89	0.10196	T	-0.68	0.19509	N	0.049	0.02088	-0.9562	0.39879	T	0.014	0.05513	T	7	0.0032682419	0.00056	T	.	.	.	0.022	0.04323	.	.	0.190952846119	0.18690	0.09636815681837105	0.09568	.	.	.	.	.	0.014624	0.12415	T	-0.686165	0.00044	T	-0.746728	0.03615	T	0.00242903817196853	0.00025	T	0.384762	0.09420	T	0.014301993	0.00088	0.027103482	0.00840	0.018582454	0.00379	0.027103482	0.00840	-3.909	0.22438	T	0.4769490741205062	0.55632	0.086	0.10449	B	.	.	0.334210	0.07081	3.651	0.96379676144853632	0.29614	0.16803	0.19556	N	AEFBI	0.042617	0.06635	N	-0.505629189530834	0.21898	1.165457	-0.619008337508464	0.19005	1.017794	0.725674567777487	0.22984	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.03	0.757	0.17574	0.457000	0.21588	-0.302000	0.10107	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.381000	0.26357	0.2722:0.1111:0.6167:0.0	7.148	0.24772	325	0.86759	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1	4629.14	37	chr11	74034038	.	G	A	4629.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.068;DP=689;ExcessHet=0.2348;FS=3.234;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.568;SOR=0.547	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2342,0,2707	8	0	2	0
chr11	74057414	74057414	C	A	exonic	C2CD3	.	nonsynonymous SNV	C2CD3:NM_001286577:exon25:c.G5082T:p.Q1694H,C2CD3:NM_015531:exon25:c.G5082T:p.Q1694H	.	433	1084	5	0	0	5	0.00230097	.	.	.	713165	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.00600807042247	0.0042	0.000798722	0.0032	0.0010	0.0027	0	0.0014	0.0049	0.0022	0.0003	0.0033829	523	154602	rs142214951	0.0051	0.0051	0.0052	0.0050	0.0061	0.0050	0.0050	0.0060	0.0060	0.0009	0.0034	0.0001	2.519e-05	0.0023	0.0023	0.0061	0.0049	0.0003	0.0037	0.0037	0.0039	0.0035	0.0064	0.0035	0.0034	0.0059	0.0057	0.0013	0.0022	0.0027	0	0	0.0028	0	0.0064	0.0057	0.0002	0.273	0.17881	T	0.443	0.26386	T	0.001	0.07471	B	0.004	0.10090	B	0.000013	0.62929	N	0.120255	0.603407	0.32558	D	0.92	0.23413	L	1.0	0.41392	T	-0.75	0.27463	N	0.292	0.33578	-1.0391	0.17587	T	0.047	0.19998	T	10	0.0043418407	0.00088	T	0.006008	0.15698	T	0.087	0.25287	0.345	0.33950	0.165133752707	0.16062	0.41408200645514487	0.41324	0.0931662067262	0.10528	0.495082676411	0.38143	T	0.107833	0.42037	T	-0.525843	0.00406	T	-0.523969	0.19894	T	0.00221659369988044	0.00023	T	0.732227	0.36599	T	0.06873279	0.14997	0.050011054	0.07760	0.09343637	0.21945	0.043951396	0.05585	-6.887	0.55237	T	0.39549794396042	0.48808	0.166	0.36653	B	.;.;.	.;.;.	1.588183	0.20318	14.69	0.91898239881090904	0.21218	0.45061	0.27455	N	AEFDGBHCI	0.210886	0.33673	N	-0.562385963830552	0.20096	1.056949	-0.4155327824535	0.24542	1.344445	0.999999999897464	0.74766	0.740787	0.97801	0	0.653731	0.59785	0	0.709663	0.75317	0	0.673998	0.66042	0	.	.	5.13	2.15	0.26590	-0.279000	0.08512	-0.442000	0.09154	-0.228000	0.07776	0.644000	0.28119	0.051000	0.21832	0.980000	0.58198	0.0:0.5956:0.2566:0.1478	7.471	0.26519	319	0.87030	C2 domain|C2 domain;.;C2 domain|C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.025253	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1720.43	166	chr11	74057414	.	C	A	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.312;DP=478;ExcessHet=0;FS=1.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.291;SOR=0.882	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	9	0	1	0
chr11	74492139	74492139	T	C	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A692G:p.N231S	.	.	.	.	.	.	.	.	.	.	.	1357491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.005	0.00418522540232	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs760634490	4.862e-05	4.652e-05	4.233e-05	5.508e-05	8.403e-05	3.896e-05	3.565e-05	4.13e-05	3.772e-05	3.165e-05	8.403e-05	0	0	0.0001	0	5.286e-05	1.725e-05	1.262e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0.0005	0.0002	0.48	0.08237	T	0.329	0.18617	T	0.0	0.02946	B	0.001	0.04355	B	0.396765	0.13180	N	0.726395	1	0.08975	N	-0.205	0.04094	N	.	.	.	-0.2	0.10136	N	0.067	0.03956	-1.0467	0.15332	T	0.030	0.12848	T	9	0.021445334	0.00513	T	0.004185	0.10058	T	0.005	0.00259	0.216	0.13643	0.0138822411134	0.00435	0.7206688602455656	0.72009	.	.	0.294632911682	0.09603	T	0.015667	0.13095	T	-0.5071	0.00521	T	-0.772542	0.02686	T	0.0165378304813464	0.00416	T	0.410359	0.10588	T	0.012899582	0.00044	0.013435964	0.00000	0.012899582	0.00044	0.013435964	0.00000	-2.417	0.05238	T	.	.	0.061	0.01075	B	.	.	-1.497805	0.00296	0.005	0.58210268950209887	0.05942	0.00462	0.02227	N	AEFDGBCI	0.024640	0.01558	N	-2.15559823522945	0.00096	0.004123002	-2.2418883323255	0.00090	0.003958387	0.999999999998832	0.74766	0.740787	0.97801	0	0.659912	0.62753	0	0.643519	0.47002	0	0.673998	0.66042	0	.	.	4.63	-9.25	0.00566	-0.449000	0.06885	-4.466000	0.02142	-1.974000	0.00467	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.089:0.345:0.0885:0.4775	4.988	0.13546	343	0.85802	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1788.43	34	chr11	74492139	.	T	C	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=435;ExcessHet=0;FS=1.56;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-0.09;SOR=0.512	GT:AD:DP:GQ:PL	0/1:61,65:126:99:1800,0,1663	9	0	1	0
chr11	74492211	74492211	T	A	exonic	LIPT2	.	nonsynonymous SNV	LIPT2:NM_001144869:exon2:c.A620T:p.E207V	.	423	1047	49	3	0	55	0.0255933	.	.	.	1604921	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.851	.	0.0018	0.00579073	0.0111	0	0.0049	0	0	0.0051	0.0041	0.0244	0.0021733	336	154602	rs141813641	0.0033	0.0032	0.0027	0.0040	0.0253	0.0032	0.0032	0.0244	0.0240	0.0004	0.0041	0.0149	5.596e-05	0.0003	0.0179	0.0016	0.0052	0.0253	0.0032	0.0032	0.0025	0.0040	0.0247	0.0030	0.0029	0.0211	0.0197	0.0004	0	0.0095	0.0104	0	0.0004	0.0170	0.0022	0.0057	0.0247	0.033	0.44358	D	0.034	0.52727	D	0.949	0.53761	P	0.514	0.48013	P	0.000027	0.55875	D	0.117372	1	0.81001	D	3.005	0.85968	M	-3.96	0.96208	D	-5.5	0.85844	D	0.354	0.39558	0.723	0.93464	D	0.825	0.94111	D	10	0.008795619	0.00199	T	.	.	.	0.851	0.95396	.	.	0.475741759771	0.47203	0.9365910790192148	0.93639	.	.	0.341749250889	0.16700	T	0.148517	0.48710	T	0.00168011	0.51886	T	0.248561	0.85553	D	0.0968409808715536	0.12005	T	0.839416	0.51368	T	0.42203003	0.62227	0.37563127	0.62703	0.42203003	0.62227	0.37563127	0.62703	-11.143	0.80436	D	0.2682583130442304	0.36129	0.451	0.62236	A	.	.	4.814382	0.78358	26.9	0.99324259331765385	0.59507	0.96832	0.71180	D	AEFDGBCIJ	0.885805	0.81665	D	0.584661802933608	0.72217	5.771062	0.592416165450865	0.74393	6.129732	0.999999999999988	0.74766	0.660085	0.49399	0	0.627608	0.54475	0	0.662677	0.59975	0	0.563494	0.21769	0	.	.	5.25	5.25	0.73169	7.602000	0.82038	7.790000	0.68871	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.505000	0.29129	0.0:0.0:0.0:1.0	13.126	0.58773	343	0.85802	Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL), catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014706	0.005319	0.024194	0.013274	0.000000	0.000000	0.011765	0.037500	0.05	2170.43	169	chr11	74492211	.	T	A	2170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.58;DP=496;ExcessHet=0;FS=2.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.62;SOR=0.488	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,99,1485	9	0	1	0
chr11	74497429	74497429	G	A	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.G524A:p.C175Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	56.44	36	chr11	74497429	.	G	A	56.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.942;DP=288;ExcessHet=0;FS=69.772;InbreedingCoeff=-0.0533;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=1.17;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:38:.:.:0,38,535:.	9	0	1	0
chr11	75439957	75439957	G	A	exonic	GDPD5	.	nonsynonymous SNV	GDPD5:NM_001351167:exon11:c.C1064T:p.P355L,GDPD5:NM_030792:exon15:c.C1478T:p.P493L,GDPD5:NM_001351168:exon16:c.C743T:p.P248L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.532	0.182495860997	7.7e-05	0.000399361	0.0004	0	0.0003	0.0026	0	0.0002	0	0.0010	0.000401	62	154602	rs376725732	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0011	0.0010	0.0002	0.0002	0	0.0014	5.626e-05	0	8.824e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0019	9.735e-05	8.25e-05	0.0010	0.0008	9.618e-05	0	6.534e-05	0	0.0019	9.413e-05	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.965	0.71173	D	0.000001	0.62929	D	0.056966	1	0.81001	D	2.915	0.84231	M	-0.08	0.63911	T	-8.81	0.97888	D	0.831	0.82761	-0.0500	0.81206	T	0.437	0.77689	T	10	0.12466192	0.23680	T	0.182496	0.85624	D	0.532	0.80307	.	.	0.877585680233	0.87639	0.9208311078194055	0.92059	0.932353545446	0.71882	0.633972883224	0.57708	T	0.514642	0.82909	D	-0.111595	0.34506	T	0.0654515	0.74605	D	0.316032948432716	0.25660	T	0.969003	0.88824	D	0.6292867	0.74260	0.6404869	0.78997	0.6292867	0.74261	0.6404869	0.78998	-9.57	0.71294	D	.	.	0.216	0.47687	B	.;.;.;.;.;.	.;.;.;.;.;.	5.601477	0.92460	32	0.99915917804623922	0.98379	0.98650	0.85139	D	AEFBI	0.897965	0.84073	D	0.81002566922412	0.86730	8.979855	0.764453821342444	0.87232	9.151972	0.999999998421842	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.688494	0.62686	0	0.714379	0.83352	0	.	.	4.77	4.77	0.60425	6.708000	0.74483	11.712000	0.94670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	15.341	0.74008	711	0.56613	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1724.43	35	chr11	75439957	.	G	A	1724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.352;DP=427;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.989;SOR=0.5	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1266	9	0	1	0
chr11	75983505	75983505	A	C	exonic	UVRAG	.	nonsynonymous SNV	UVRAG:NM_003369:exon8:c.A818C:p.Q273P	.	433	1074	14	1	0	16	0.00739372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00527099311521	0.0030	0.00219649	0.0024	0.0008	0.0013	0	0.0002	0.0035	0.0033	0.0021	0.0025032	387	154602	rs61749241	0.0037	0.0037	0.0038	0.0037	0.0087	0.0036	0.0036	0.0068	0.0061	0.0010	0.0024	0.0058	7.613e-05	0.0003	0.0087	0.0042	0.0043	0.0020	0.0025	0.0025	0.0027	0.0022	0.0041	0.0023	0.0022	0.0032	0.0031	0.0007	0	0.0041	0.0043	0	0.0002	0.0204	0.0036	0.0043	0.0017	0.049	0.39820	D	0.262	0.26226	T	0.45	0.36066	B	0.152	0.34249	B	0.015458	0.28243	N	0.429335	0.936665	0.81001	D	2.66	0.77858	M	1.47	0.31987	T	-2.93	0.63901	D	0.414	0.45426	-1.0991	0.04202	T	0.055	0.23338	T	10	0.0083040595	0.00188	T	0.005271	0.13464	T	0.069	0.20116	.	.	0.187035705434	0.18338	0.6951477732526464	0.69455	0.710065838509	0.61666	0.401450872421	0.25271	T	0.291091	0.66385	T	-0.296669	0.08977	T	-0.198791	0.54761	T	0.0304529181259057	0.02060	T	0.775622	0.40735	T	0.8479153	0.87182	0.8458338	0.91225	0.8479153	0.87184	0.8458338	0.91226	-7.097	0.54739	T	.	.	0.559	0.67191	A	.;.	.;.	3.806245	0.54877	23.5	0.99170220053341651	0.54355	0.96249	0.68223	D	AEFDGBI	0.500394	0.53367	D	0.173187702427738	0.49914	3.18672	0.292028943857175	0.55074	3.670746	0.999994278177294	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	2.550000	0.45472	8.026000	0.76252	0.726000	0.85437	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	13.692	0.62033	782	0.47442	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.006793	0.014620	0.000000	0.017241	0.012195	0.007576	0.05	1277.43	33	chr11	75983505	.	A	C	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.2;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-1.052;SOR=0.654	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	76351476	76351476	T	A	exonic	THAP12	.	nonsynonymous SNV	THAP12:NM_004705:exon5:c.A1674T:p.R558S	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0020797152855	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1157005460	4.711e-05	0.0002	3.887e-05	5.556e-05	0.0006	3.763e-05	3.44e-05	0.0004	0.0004	0.0002	0.0006	0	0.0001	0	0	7.331e-06	6.843e-05	0.0003	1.317e-05	0.0001	2.574e-05	0	4.853e-05	2.19e-06	8.2e-07	8.04e-06	3.01e-06	4.853e-05	0	0	0	0	0	0	0	0	0	0.017	0.51248	D	0.025	0.56192	D	0.594	0.39171	P	0.295	0.40843	B	0.000000	0.84330	D	0.044915	0.996463	0.43220	D	2.515	0.73286	M	.	.	.	-1.46	0.35792	N	0.504	0.53620	-0.9883	0.33027	T	0.146	0.47021	T	9	0.34897023	0.51800	T	0.00208	0.03828	T	0.170	0.43303	0.478	0.55663	0.322284741503	0.31843	0.4873270953668649	0.48652	1.60633318965	0.88804	0.476609885693	0.35591	T	0.165633	0.51156	T	0.159633	0.70166	D	-0.00847424	0.69783	D	0.614909768104553	0.36998	D	0.710429	0.32156	T	0.33767474	0.56093	0.19393219	0.42989	0.33767474	0.56093	0.19393219	0.42988	-5.566	0.42481	T	.	.	0.356	0.56952	A	.	.	2.527946	0.32681	19.11	0.97410423660631529	0.33820	0.18562	0.20311	N	AEFI	0.177388	0.30462	N	-0.383128005019837	0.26069	1.419998	-0.418795209424784	0.24446	1.338668	6.54037488188343E-5	0.04366	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.98	-0.74	0.10555	0.067000	0.14378	0.589000	0.19801	0.641000	0.52212	0.945000	0.32849	0.996000	0.32793	0.997000	0.79791	0.0:0.5882:0.0:0.4118	9.968	0.40907	829	0.39537	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	30.43	34	chr11	76351476	.	T	A	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=386;ExcessHet=0;FS=3.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.58;MQRankSum=-5.41;QD=0.43;ReadPosRankSum=-3.139;SOR=1.321	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1081	9	0	1	0
chr11	77015059	77015059	A	G	exonic	ACER3	.	nonsynonymous SNV	ACER3:NM_001300953:exon7:c.A430G:p.I144V,ACER3:NM_001300955:exon7:c.A256G:p.I86V,ACER3:NM_001300954:exon8:c.A256G:p.I86V,ACER3:NM_018367:exon8:c.A541G:p.I181V	.	0	225	1	0	0	1	0.00221729	.	.	.	1556822	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.00287054429649	0.0003	0.000798722	0.0007	9.766e-05	0.0003	0	0	0.0005	0	0.0026	0.0006145	95	154602	rs141925215	0.0005	0.0005	0.0003	0.0006	0.0029	0.0004	0.0004	0.0026	0.0025	9.033e-05	0.0002	0	0	0.0005	0.0010	0.0003	0.0003	0.0029	0.0004	0.0004	0.0004	0.0005	0.0031	0.0003	0.0003	0.0019	0.0015	7.218e-05	0	0.0001	0.0003	0	0.0003	0	0.0006	0.0005	0.0031	1.0	0.00964	T	1.0	0.02987	T	0.0	0.02946	B	0.001	0.04355	B	0.103812	0.19730	N	0.523481	0.999944	0.19238	N	0.205	0.09354	N	0.99	0.41750	T	0.02	0.06739	N	0.093	0.07398	-1.0396	0.17434	T	0.019	0.07893	T	10	0.008849442	0.00200	T	0.002871	0.06044	T	0.088	0.25558	.	.	0.577092586857	0.57378	0.4559827887407912	0.45516	0.553159282221	0.52090	0.343378573656	0.16943	T	0.219065	0.58845	T	-0.591315	0.00165	T	-0.627707	0.10589	T	0.00807206548415246	0.00096	T	0.80002	0.45710	T	0.050021112	0.08971	0.028096966	0.01015	0.04652187	0.07800	0.034221567	0.02450	-4.321	0.28470	T	0.13749409051251554	0.15132	0.065	0.02609	B	.;.;.;.	.;.;.;.	-1.009969	0.00757	0.024	0.43875939260457186	0.03334	0.01709	0.05426	N	AEFDBI	0.036760	0.04951	N	-1.52330645330793	0.01697	0.07428023	-1.55369602434238	0.01951	0.08904334	0.999999905443819	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.47	-10.9	0.00151	-0.223000	0.09182	-0.573000	0.08416	0.691000	0.84096	0.081000	0.22364	0.000000	0.08366	0.998000	0.85391	0.1683:0.1976:0.4398:0.1943	3.718	0.07973	562	0.71143	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	678.43	35	chr11	77015059	.	A	G	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.436;DP=369;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.2;SOR=0.897	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,933	9	0	1	0
chr11	77039901	77039901	T	C	exonic	B3GNT6	.	nonsynonymous SNV	B3GNT6:NM_138706:exon2:c.T350C:p.V117A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00250823260792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.66	0.32783	T	0.018	0.17786	B	0.025	0.20508	B	0.001881	0.37740	N	0.217695	1	0.23414	N	1.5	0.37844	L	.	.	.	-2.8	0.59226	D	0.122	0.11340	-1.0266	0.21560	T	0.053	0.22539	T	10	0.14013514	0.26640	T	0.002508	0.05009	T	0.087	0.25287	0.546	0.66015	0.119812018005	0.11559	0.6974399206259607	0.69684	.	.	0.838371694088	0.87847	D	0.020232	0.15966	T	-0.110054	0.34758	T	-0.395862	0.33865	T	0.0947027206420898	0.11764	T	0.439856	0.13375	T	0.030608065	0.02753	0.055353947	0.09694	0.030608065	0.02752	0.055353947	0.09693	-5.988	0.46179	T	0.357746286592246	0.45446	0.102	0.23535	B	.;.	.;.	1.353785	0.17619	13.27	0.43103275175697275	0.03222	0.34061	0.24978	N	ALL	.	.	.	-0.987972636753363	0.08860	0.4170544	-1.0802269551822	0.08090	0.3962696	0.99999847562509	0.74766	0.623204	0.39778	0	0.606814	0.50340	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.28	-0.526	0.11318	2.311000	0.43377	0.543000	0.19351	0.559000	0.28343	0.268000	0.25027	0.996000	0.32793	0.027000	0.12703	0.0:0.3226:0.0:0.6774	7.096	0.24490	502	0.75873	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	737.43	43	chr11	77039901	.	T	C	737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.22;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.398;SOR=0.673	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1315	9	0	1	0
chr11	77217316	77217316	T	G	splicing	GDPD4	NM_182833:exon17:c.1526-2A>C	.	.	.	435	1083	4	0	0	4	0.00184332	1.0000	0.894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	3.295e-05	9.615e-05	0	0	0	1.499e-05	0.0011	6.06e-05	2.59e-05	4	154602	rs373234595	3.379e-05	3.421e-05	2.061e-05	4.707e-05	0.0010	2.586e-05	2.33e-05	0.0005	0.0003	6.017e-05	0	0	0	0	0.0010	3.087e-05	4.999e-05	4.651e-05	3.942e-05	3.94e-05	3.853e-05	4.035e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0632271	0.42401	T	-0.124998	0.61389	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.002742	0.58988	24.0	0.96219784557827459	0.29082	0.90110	0.51034	D	AEFBI	.	.	.	0.789595872003928	0.85449	8.579724	0.55173682820494	0.71516	5.667069	0.317898422545907	0.19354	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.938516	0.59947	4.22	4.22	0.49153	2.794000	0.47545	4.040000	0.41416	0.665000	0.62972	0.997000	0.40164	0.996000	0.32793	0.263000	0.23594	0.0:0.0:0.0:1.0	9.996	0.41072	689	0.59000	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	995.43	34	chr11	77217316	.	T	G	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.188;DP=423;ExcessHet=0;FS=0.997;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=-1.472;SOR=0.955	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr11	77269045	77269045	G	C	exonic	GDPD4	.	nonsynonymous SNV	GDPD4:NM_182833:exon9:c.C503G:p.P168R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.00303605557132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	0	4.126e-06	2.988e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	2.988e-05	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.58626	D	0.13	0.34716	T	0.999	0.77913	D	0.94	0.67560	D	0.001848	0.37840	N	0.297318	0.999956	0.19072	N	2.8	0.81625	M	2.43	0.15261	T	-4.3	0.76496	D	0.621	0.68429	-1.0661	0.10293	T	0.101	0.37316	T	10	0.86326265	0.85556	D	0.003036	0.06517	T	0.241	0.54641	0.705	0.84145	0.494299846589	0.49065	0.46834795206677476	0.46753	0.338127854564	0.35788	0.290455698967	0.08988	T	0.100051	0.40547	T	-0.124813	0.32338	T	-0.417061	0.31413	T	0.993709087371826	0.84614	D	0.721228	0.33447	T	0.19939154	0.41877	0.20281099	0.44328	0.19939154	0.41877	0.20281099	0.44327	-12.541	0.88129	D	.	.	0.406	0.60783	A	.;.	.;.	4.190581	0.63158	24.5	0.99785749950914637	0.87219	0.92830	0.56650	D	AEFBI	0.432247	0.49420	N	0.638824741340151	0.75647	6.343136	0.600149917452876	0.74950	6.225293	0.998455440995949	0.36996	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	4.476000	0.59950	6.974000	0.57101	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	15.499	0.75417	425	0.81160	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	711.43	34	chr11	77269045	.	G	C	711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.448;DP=338;ExcessHet=0;FS=2.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=1.02;SOR=0.405	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,991	9	0	1	0
chr11	77590426	77590426	A	C	exonic	AQP11	.	nonsynonymous SNV	AQP11:NM_001363477:exon1:c.A434C:p.Q145P,AQP11:NM_173039:exon1:c.A434C:p.Q145P	.	430	1070	22	0	0	22	0.0101758	.	.	.	2813577	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.261	0.083264955827	0.0042	0.00239617	0.0037	0.0012	0.0048	0	0.0003	0.0053	0.0044	0.0012	0.0036545	565	154602	rs145893530	0.0059	0.0059	0.0060	0.0058	0.0078	0.0058	0.0058	0.0068	0.0068	0.0012	0.0053	0.0025	5.038e-05	0.0003	0.0078	0.0070	0.0062	0.0014	0.0043	0.0043	0.0045	0.0041	0.0089	0.0040	0.0039	0.0077	0.0072	0.0017	0	0.0089	0.0012	0	9.427e-05	0.0170	0.0062	0.0066	0.0006	0.202	0.20230	T	0.152	0.32249	T	0.11	0.26188	B	0.072	0.28043	B	0.122917	0.18937	N	0.580480	1	0.08975	N	1.245	0.31408	L	-1.95	0.85003	D	-1.12	0.28906	N	0.214	0.23884	-0.8907	0.48873	T	0.133	0.44642	T	10	0.006157875	0.00139	T	0.083265	0.74077	D	0.261	0.57352	.	.	0.77023634194	0.76813	0.6218066726886482	0.62113	0.724929908737	0.62421	0.25926721096	0.04804	T	0.290695	0.66346	T	-0.30452	0.08240	T	-0.200804	0.54570	T	0.00296987028726989	0.00031	T	0.60234	0.22547	T	0.27303013	0.50372	0.26322335	0.52126	0.27303013	0.50371	0.26322335	0.52125	-4.334	0.28651	T	.	.	0.063	0.01534	B	.	.	1.644318	0.20984	15.00	0.86587087383490335	0.16636	0.43664	0.27148	N	ALL	0.468235	0.51512	N	-0.944095465145088	0.09826	0.4667635	-0.818460089257118	0.14048	0.7320476	0.999999073711257	0.74766	0.685219	0.55550	0	0.516746	0.08562	0	0.674405	0.61402	0	0.618803	0.45993	0	.	.	5.54	1.79	0.23992	1.704000	0.37476	2.655000	0.33841	0.691000	0.84096	0.021000	0.19753	0.999000	0.35428	0.191000	0.21631	0.7482:0.0:0.2518:0.0	8.037	0.29657	371	0.84287	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.020202	0.012228	0.000000	0.000000	0.008621	0.012195	0.003788	0.1	8088.14	42	chr11	77590426	.	A	C	8088.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.539;DP=765;ExcessHet=0.2348;FS=10.49;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.03;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1049:.	8	0	2	0
chr11	77590427	77590427	G	T	exonic	AQP11	.	nonsynonymous SNV	AQP11:NM_001363477:exon1:c.G435T:p.Q145H,AQP11:NM_173039:exon1:c.G435T:p.Q145H	.	432	1068	22	0	0	22	0.0101946	.	.	.	2813578	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	0.0857217094285	0.0042	0.00239617	0.0037	0.0012	0.0048	0	0.0003	0.0053	0.0044	0.0011	0.0036481	564	154602	rs117458417	0.0059	0.0059	0.0060	0.0058	0.0078	0.0058	0.0058	0.0068	0.0068	0.0012	0.0053	0.0025	5.038e-05	0.0003	0.0078	0.0070	0.0062	0.0013	0.0043	0.0043	0.0045	0.0041	0.0089	0.0040	0.0039	0.0077	0.0072	0.0017	0	0.0089	0.0012	0	9.427e-05	0.0170	0.0062	0.0066	0.0006	0.067	0.35918	T	0.042	0.50226	D	0.0	0.02946	B	0.002	0.06944	B	0.122917	0.18937	N	0.580480	1	0.08975	N	1.245	0.31408	L	-1.98	0.85247	D	-1.42	0.34992	N	0.021	0.00339	-0.8529	0.51767	T	0.185	0.53361	T	10	0.0056094825	0.00124	T	0.085722	0.74590	D	0.093	0.26882	0.379	0.39482	0.786729234469	0.78475	0.23597778875359826	0.23512	0.82945304597	0.67562	0.260296195745	0.04926	T	0.375488	0.73908	T	-0.479925	0.00740	T	-0.45276	0.27391	T	0.00589196671451376	0.00065	T	0.448855	0.12628	T	0.06446556	0.13681	0.06976676	0.14741	0.06446556	0.13680	0.06976676	0.14740	-3.127	0.11609	T	.	.	0.102	0.18037	B	.	.	2.034810	0.25866	16.91	0.94974682886674278	0.25906	0.30284	0.24043	N	ALL	0.199495	0.32629	N	-0.915129244643713	0.10488	0.5014076	-0.811395508365201	0.14219	0.7418653	0.999999237364034	0.74766	0.685219	0.55550	0	0.516746	0.08562	0	0.674405	0.61402	0	0.618803	0.45993	0	.	.	5.54	2.52	0.29514	0.305000	0.19006	0.775000	0.21430	-0.182000	0.10109	0.002000	0.15269	0.998000	0.33993	0.204000	0.22012	0.0698:0.1263:0.5426:0.2612	5.224	0.14706	371	0.84287	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.020202	0.012228	0.000000	0.000000	0.008621	0.012195	0.003788	0.1	8088.14	42	chr11	77590427	.	G	T	8088.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.78;DP=766;ExcessHet=0.2348;FS=10.49;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=0.152;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1049:.	8	0	2	0
chr11	77667305	77667305	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon16:c.A3938G:p.N1313S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.022915856132	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239899669	1.163e-05	1.163e-05	8.167e-06	1.513e-05	0.0002	7.08e-06	5.79e-06	8.1e-06	6.42e-06	0	0	0	0	0	0.0002	1.349e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.24372	T	0.757	0.04686	T	0.006	0.13644	B	0.005	0.11217	B	0.051053	0.23016	N	0.371680	0.867713	0.30104	N	0.69	0.16971	N	-1.94	0.85003	D	-0.94	0.27259	N	0.086	0.13626	-0.7199	0.59468	T	0.347	0.71155	T	10	0.07324448	0.11041	T	0.022916	0.45849	T	0.174	0.44019	0.103	0.01643	0.621967643588	0.61889	0.01751648041663879	0.01706	0.137814645192	0.15535	0.404495358467	0.25694	T	0.005707	0.05159	T	-0.170662	0.25134	T	-0.48292	0.24136	T	0.031799617127788	0.02274	T	0.775622	0.40735	T	0.03273859	0.03357	0.0408296	0.04502	0.03273859	0.03356	0.0408296	0.04502	-1.837	0.02622	T	.	.	0.064	0.01692	B	.;.	.;.	1.429434	0.18473	13.76	0.96527004801271332	0.30136	0.91991	0.54704	D	AEFGBI	0.157147	0.28261	N	-0.492204164982822	0.22336	1.191928	-0.349280134213057	0.26532	1.466064	0.0202823502471931	0.13243	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	1.49	0.21966	0.873000	0.27702	1.210000	0.24900	0.665000	0.62972	0.723000	0.28851	1.000000	0.68203	0.780000	0.36908	0.0:0.3035:0.0:0.6965	8.816	0.34157	440	0.80101	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1956.43	155	chr11	77667305	.	T	C	1956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.472;DP=473;ExcessHet=0;FS=2.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.791;SOR=0.853	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,992	9	0	1	0
chr11	78101029	78101029	C	T	exonic	ALG8	.	nonsynonymous SNV	ALG8:NM_024079:exon13:c.G1516A:p.A506T	Congenital disorder of glycosylation, type Ih	0	1508	14	0	0	14	0.00462046	.	.	.	868843	ALG8_congenital_disorder_of_glycosylation|ALG8-related_disorder	MONDO:MONDO:0011969,MedGen:C2931002,OMIM:608104,Orphanet:79325|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.102	0.0348861890714	0.0003	0.000998403	0.0005	9.625e-05	0.0006	0.0001	0	0.0002	0.0022	0.0019	0.0004398	68	154602	rs149692072	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0017	0.0015	0	0.0005	3.826e-05	2.519e-05	0	0.0028	8.004e-05	0.0003	0.0018	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.406e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0027	0.671	0.32929	T	0.293	0.20811	T	0.007	0.14184	B	0.033	0.22329	B	0.002315	0.36806	N	0.300661	0.999298	0.81001	D	1.725	0.44537	L	-1.74	0.83413	D	-0.73	0.29323	N	0.215	0.24010	-0.6916	0.60833	T	0.250	0.61912	T	10	0.02481255	0.00696	T	0.034886	0.55978	D	0.482	0.77206	.	.	0.888515215165	0.88741	0.3929556972325702	0.39210	0.161159105999	0.18189	0.417583346367	0.27505	T	0.156684	0.49896	T	-0.227984	0.16915	T	-0.11349	0.62332	T	0.0133918986548091	0.00242	T	0.842016	0.51794	T	0.068263814	0.14856	0.08404729	0.19305	0.087290436	0.20320	0.08441477	0.19418	-7.074	0.54573	T	0.1575883449238142	0.19039	0.106	0.27910	B	.;.	.;.	2.614910	0.33970	19.49	0.93343155844953485	0.23075	0.87664	0.47279	D	AEFDBCI	0.333900	0.43284	N	0.156583891975323	0.49124	3.116352	0.195561650432476	0.49602	3.161542	0.999998618531933	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.95	4.01	0.45821	1.304000	0.33087	3.303000	0.37399	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.3254:0.6746:0.0:0.0	12.583	0.55752	617	0.66297	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1346.43	36	chr11	78101029	.	C	T	1346.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.085;DP=469;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.625;SOR=0.562	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr11	78658438	78658438	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon34:c.G7930A:p.G2644R	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.822	0.0828746798906	.	.	2.488e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs776302209	2.463e-05	2.463e-05	2.042e-05	2.888e-05	0.0003	1.803e-05	1.6e-05	9.791e-05	7.838e-05	0	0	0	0	0	0.0003	1.799e-05	0	0.0002	1.315e-05	1.314e-05	0	2.693e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.013	0.53900	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.66	0.77858	M	-2.59	0.89822	D	-6.28	0.90688	D	0.916	0.91852	0.639	0.92407	D	0.814	0.93737	D	9	0.8130322	0.80568	D	0.082875	0.73994	D	0.822	0.94315	0.553	0.66995	0.641073573716	0.63811	0.8905565076083726	0.89025	1.05119572782	0.76154	0.749347925186	0.74349	T	0.678997	0.90553	D	0.276184	0.80986	D	0.395611	0.91968	D	0.895301103591919	0.54683	D	0.993776	0.97952	D	0.6687224	0.76364	0.57466304	0.75361	0.6687224	0.76365	0.57466304	0.75362	-4.102	0.25320	T	0.5734944572656684	0.64056	0.530	0.65911	A	.	.	4.810657	0.78262	26.9	0.99925701758606589	0.99042	0.98591	0.84452	D	AEFDBI	0.937011	0.93417	D	0.836948911477763	0.88354	9.546489	0.828851680932868	0.91722	11.03359	0.999999999996473	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	7.905000	0.86479	7.677000	0.65097	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.914	0.97044	880	0.29376	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3032.43	33	chr11	78658438	.	C	T	3032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.268;DP=528;ExcessHet=0;FS=7.422;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=0.539;SOR=0.904	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	9	0	1	0
chr11	78669655	78669655	G	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.C6690G:p.N2230K	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.201149143985	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242527390	3.421e-06	3.42e-06	2.723e-06	4.126e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.023	0.58089	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999762	0.48888	D	2.595	0.75868	M	-2.66	0.90272	D	-5.03	0.85397	D	0.801	0.79696	0.523	0.90870	D	0.798	0.93153	D	9	0.5495869	0.64179	D	0.201149	0.86749	D	0.475	0.76751	0.363	0.36874	0.559495123731	0.55609	0.6291437972244921	0.62847	0.692844510377	0.60684	0.831832945347	0.86843	D	0.644697	0.89145	D	0.0832233	0.62416	D	-0.118232	0.61948	T	0.971876263618469	0.69482	D	0.748825	0.36981	T	0.53796893	0.69282	0.45124692	0.68071	0.53796893	0.69283	0.45124692	0.68071	-12.332	0.86430	D	0.5357378148109877	0.60603	0.681	0.72165	P	.;.	.;.	3.944600	0.57739	23.9	0.99654214863699053	0.77505	0.93114	0.57363	D	AEFGBI	0.621402	0.60611	D	0.261784701508451	0.54225	3.588559	0.189846513177274	0.49288	3.133947	7.83114471591667E-4	0.07810	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.14	2.3	0.27735	2.524000	0.45250	3.554000	0.39061	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.4049:0.0:0.5951:0.0	8.178	0.30457	868	0.31772	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2909.43	34	chr11	78669655	.	G	C	2909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.031;DP=533;ExcessHet=0;FS=3.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.581;SOR=0.922	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	9	0	1	0
chr11	78670175	78670175	T	C	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon32:c.A6170G:p.Y2057C	Tremor, hereditary essential, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.127327623041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.585	0.75554	M	-3.09	0.92613	D	-8.4	0.97138	D	0.946	0.95374	0.839	0.94891	D	0.852	0.95070	D	9	0.9491217	0.94244	D	0.127328	0.80911	D	0.872	0.96170	0.853	0.95376	0.735306291586	0.73294	0.793135059448041	0.79266	1.06936415736	0.76758	0.878462195396	0.93753	D	0.796258	0.94757	D	0.453792	0.92648	D	0.414065	0.92557	D	0.998407900333405	0.94057	D	0.994989	0.98304	D	0.88146806	0.89788	0.7919557	0.87767	0.88146806	0.89789	0.7919557	0.87767	-10.06	0.74270	D	0.5919626899584196	0.65877	0.573	0.67777	P	.;.	.;.	5.639025	0.92730	33	0.99787626615586533	0.87396	0.96125	0.67647	D	AEFBI	0.860166	0.77798	D	0.676228951260152	0.78074	6.799048	0.633167150646773	0.77361	6.664816	0.562558750243507	0.21426	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.78	4.78	0.60666	6.118000	0.71287	6.077000	0.53311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.774	0.69335	871	0.31377	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2132.43	34	chr11	78670175	.	T	C	2132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.68;DP=441;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.79;ReadPosRankSum=-1.915;SOR=0.624	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1293	9	0	1	0
chr11	82732913	82732913	C	T	exonic	FAM181B	.	nonsynonymous SNV	FAM181B:NM_175885:exon1:c.G817A:p.G273S	.	408	1086	27	1	0	29	0.0131758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0031	0.00399361	0.0157	0.0041	0.0227	0	0.0078	0.0246	0.0143	0.0102	0.0034734	537	154602	rs142346160	0.0052	0.0052	0.0051	0.0054	0.0095	0.0051	0.0051	0.0075	0.0068	0.0006	0.0029	0.0144	2.773e-05	0.0071	0.0095	0.0052	0.0050	0.0075	0.0041	0.0041	0.0042	0.0041	0.0075	0.0038	0.0037	0.0055	0.0049	0.0007	0.0022	0.0027	0.0158	0	0.0074	0.0136	0.0055	0.0047	0.0075	0.151	0.24564	T	0.328	0.18675	T	0.093	0.25333	B	0.017	0.18140	B	0.045942	0.23486	N	0.414096	0.995739	0.23214	N	0.2	0.09183	N	1.63	0.28002	T	-0.21	0.10308	N	0.072	0.04547	-1.0179	0.24398	T	0.022	0.09284	T	9	0.003020376	0.00049	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.09454608370646181	0.09386	0.798905593079	0.66152	0.801437079906	0.82182	T	0.001729	0.01158	T	-0.617847	0.00113	T	-0.656405	0.08510	T	0.00480462648573201	0.00052	T	0.549145	0.18877	T	0.045748696	0.07541	0.074790746	0.16396	0.045748696	0.07541	0.074790746	0.16396	-4.421	0.29840	T	.	.	0.089	0.11989	B	.	.	1.381611	0.17928	13.45	0.96065594642874486	0.28605	0.61719	0.31567	D	AEFDBCI	0.085348	0.17302	N	-0.88983826427581	0.11083	0.5329738	-0.809113044060558	0.14275	0.7450502	0.79638522059897	0.24107	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.59	1.11	0.19640	0.312000	0.19147	0.461000	0.18618	-0.369000	0.05453	0.998000	0.41325	0.803000	0.26967	0.639000	0.32395	0.1388:0.6167:0.0:0.2445	6.319	0.20413	588	0.69043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005664	0.010870	0.006793	0.000000	0.000000	0.017857	0.006329	0.003846	0.05	1248.43	48	chr11	82732913	.	C	T	1248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=442;ExcessHet=0;FS=7.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-0.115;SOR=0.41	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,967	9	0	1	0
chr11	82931910	82931910	G	A	exonic	DDIAS	.	nonsynonymous SNV	DDIAS:NM_001363481:exon5:c.G572A:p.R191K,DDIAS:NM_145018:exon6:c.G572A:p.R191K	.	434	1066	18	4	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	0.0019	0.00439297	0.0031	0.0002	0.0010	0	0.0002	0.0020	0.0022	0.0139	0.0028654	443	154602	rs143776868	0.0023	0.0023	0.0019	0.0027	0.0143	0.0022	0.0022	0.0136	0.0133	0.0002	0.0014	0.0010	5.038e-05	0.0010	0.0029	0.0016	0.0024	0.0143	0.0017	0.0017	0.0014	0.0020	0.0139	0.0015	0.0014	0.0112	0.0103	0.0002	0	0.0017	0.0014	0.0002	0.0008	0.0136	0.0019	0.0014	0.0139	0.291	0.14945	T	0.296	0.20615	T	0.051	0.22415	B	0.01	0.14941	B	0.081662	0.20852	N	0.521773	1	0.19072	N	.	.	.	2.49	0.14531	T	-0.91	0.24460	N	0.075	0.04913	-1.0082	0.27479	T	0.024	0.10148	T	9	0.0038969219	0.00074	T	.	.	.	0.021	0.04004	.	.	0.0762999501168	0.06990	0.09629855801019349	0.09561	0.0389555431681	0.04147	.	.	.	0.063198	0.32114	T	-0.630402	0.00095	T	-0.684781	0.06696	T	0.00185487795829065	0.00019	T	0.341266	0.07400	T	0.03574267	0.04264	0.045065105	0.05982	0.03574267	0.04264	0.045065105	0.05981	-2.621	0.06664	T	.	.	0.098	0.18580	B	.;.	.;.	0.781434	0.11518	8.115	0.79226924549518085	0.12647	0.08489	0.14411	N	AEFBI	0.077336	0.15579	N	-0.857207152831639	0.11873	0.5754471	-0.903660520719352	0.12007	0.6151954	0.128260463694081	0.17036	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.15	-1.55	0.08105	0.132000	0.15716	0.646000	0.20366	0.676000	0.76740	0.029000	0.20367	0.839000	0.27283	0.989000	0.64315	0.3495:0.0:0.5265:0.124	5.350	0.15334	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.015152	0.05	1681.43	35	chr11	82931910	.	G	A	1681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=456;ExcessHet=0;FS=5.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.56;SOR=0.788	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr11	86559793	86559793	G	C	exonic	ME3	.	nonsynonymous SNV	ME3:NM_001014811:exon2:c.C214G:p.Q72E,ME3:NM_001161586:exon3:c.C214G:p.Q72E,ME3:NM_001351934:exon3:c.C214G:p.Q72E,ME3:NM_006680:exon3:c.C214G:p.Q72E	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0064101620372	.	.	8.24e-05	0	0	0	0	0	0	0.0006	6.47e-05	10	154602	rs746132526	2.805e-05	2.805e-05	1.089e-05	4.538e-05	0.0004	2.087e-05	1.878e-05	0.0003	0.0003	0	0	0	0	0	0.0002	0	3.312e-05	0.0004	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.325	0.16412	T	1.0	0.02742	T	0.609	0.39586	P	0.325	0.41883	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.86	0.21358	L	0.42	0.56937	T	-0.86	0.33998	N	0.621	0.63713	-0.9982	0.30423	T	0.129	0.43706	T	9	0.24570104	0.41823	T	0.00641	0.16870	T	0.201	0.48592	0.329	0.31357	0.841177199884	0.83966	0.5732259609448505	0.57251	0.808738844197	0.66634	0.632923007011	0.57560	T	0.092663	0.39051	T	-0.197482	0.21168	T	-0.205289	0.54144	T	0.260725905450905	0.23346	T	0.963304	0.87589	D	0.34151047	0.56400	0.24894981	0.50456	0.34151047	0.56400	0.24894981	0.50455	-10.626	0.77568	D	.	.	0.178	0.38782	B	.;.;.;.;.	.;.;.;.;.	3.867160	0.56123	23.7	0.98468658759565908	0.41826	0.77403	0.38053	D	ALL	0.942204	0.94649	D	0.344597127463434	0.58455	4.01784	0.47233710561335	0.66163	4.916495	1.0	0.98316	0.730579	0.87903	0	0.59043	0.45803	0	0.550215	0.18615	0	0.648885	0.59868	0	.	.	5.1	5.1	0.68917	9.743000	0.98064	11.465000	0.92840	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.518	0.90892	829	0.39537	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1162.43	42	chr11	86559793	.	G	C	1162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=413;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=0.31;SOR=0.494	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1219	9	0	1	0
chr11	86954968	86954968	C	G	exonic	FZD4	.	nonsynonymous SNV	FZD4:NM_012193:exon1:c.G118C:p.E40Q	Exudative vitreoretinopathy 1, Autosomal dominant;Retinopathy of prematurity, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	YES	270114	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.404	0.106969376902	0.0005	0.000399361	0.0003	0.0001	0.0002	0	0	0.0003	0.0012	0.0007	0.0002717	42	154602	rs139401671	0.0003	0.0003	0.0002	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	2.988e-05	0.0001	0	0	0	0.0009	0.0003	0.0004	0.0013	0.0003	0.0003	0.0003	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0.0002	0	0.0005	0	0	0	0	0.0003	0.0005	0.0019	0.136	0.26085	T	0.602	0.07894	T	0.389	0.34565	B	0.071	0.27960	B	0.004448	0.33730	N	0.319834	0.999413	0.46970	D	0.55	0.14455	N	-1.42	0.80645	T	-0.08	0.08187	N	0.739	0.73916	-0.5586	0.66457	T	0.307	0.67804	T	9	0.22068352	0.38771	T	0.106969	0.78282	D	0.404	0.71714	.	.	0.846473803454	0.84500	0.6531943856153503	0.65255	0.334379605044	0.35456	0.680506110191	0.64340	T	0.245522	0.61483	T	-0.143629	0.29313	T	-0.0479113	0.67165	D	0.0503176523388155	0.05555	T	0.781422	0.41649	T	0.2837642	0.51407	0.21293753	0.45784	0.2837642	0.51407	0.21293753	0.45783	-4.874	0.35442	T	0.24953795744807936	0.33781	0.263	0.49731	B	.	.	3.746337	0.53679	23.4	0.97296996623158227	0.33261	0.95335	0.64320	D	AEFDBHCIJ	0.766287	0.70251	D	-0.0279956169459167	0.40591	2.413133	0.100427949237667	0.44571	2.736283	0.999999998447107	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.56214	0.19341	0	.	.	4.26	4.26	0.49832	3.577000	0.53631	4.701000	0.44410	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.818	0.85602	839	0.37672	Frizzled domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.05	1353.43	35	chr11	86954968	.	C	G	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=475;ExcessHet=0;FS=1.311;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.406;SOR=0.838	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	9	0	1	0
chr11	89804231	89804231	A	G	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon3:c.T239C:p.V80A	.	439	1064	19	0	0	19	0.00884956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	8e-05	0.00279553	0.0012	0.0003	0.0003	0.0001	0	0.0001	0.0040	0.0069	0.0006531	17	26028	rs201177336	0.0006	0.0006	0.0005	0.0008	0.0064	0.0006	0.0006	0.0060	0.0058	0.0004	0.0003	7.659e-05	0.0002	7.497e-05	0.0022	0.0002	0.0008	0.0064	0.0004	0.0004	0.0003	0.0005	0.0061	0.0003	0.0003	0.0044	0.0038	0.0003	0	6.569e-05	0	0.0002	0	0	0.0003	0	0.0061	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.135	0.00144	N	-1.86	0.84341	D	2.94	0.00188	N	0.04	0.03069	-0.9003	0.47962	T	0.255	0.62552	T	8	0.0045464933	0.00094	T	.	.	.	0.109	0.30843	.	.	0.043077524339	0.03247	0.02358505857082607	0.02310	2.12423409236	0.95047	0.358738064766	0.19201	T	0.001576	0.01012	T	-0.564362	0.00239	T	-0.581247	0.14434	T	0.00566728115634366	0.00062	T	0.0446955	0.00315	T	0.017421331	0.00271	0.03335311	0.02216	0.017421331	0.00271	0.03335311	0.02216	-3.469	0.16000	T	.	.	0.092	0.13737	B	.;.	.;.	-0.468543	0.01970	0.171	0.2073117112903767	0.00758	0.00025	0.00253	N	AEFI	0.011753	0.00111	N	-1.55267592002058	0.01519	0.06633291	-1.62180192485294	0.01528	0.06921236	1.21524163031965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.821	-0.802	0.10340	0.624000	0.24156	-4.916000	0.01928	-0.466000	0.05104	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.3336:0.0:0.6664:0.0	3.248	0.06402	829	0.39537	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002457	0.000000	0.000000	0.000000	0.000000	0.000000	0.007874	0.012931	0.05	3441.43	33	chr11	89804231	.	A	G	3441.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=613;ExcessHet=0;FS=1.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.7;MQRankSum=-3.126;QD=11.91;ReadPosRankSum=-0.189;SOR=0.792	GT:AD:DP:GQ:PL	0/1:149,140:289:99:3453,0,3345	9	0	1	0
chr11	89968575	89968575	T	-	exonic	TRIM64	.	frameshift deletion	TRIM64:NM_001136486:exon2:c.72delT:p.P25Rfs*52	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357211780	0.0031	0.0045	0.0029	0.0033	0.0129	0.0030	0.0029	0.0115	0.0109	0.0044	0.0108	0.0020	0.0129	0.0048	0.0031	0.0019	0.0039	0.0059	0.0003	0.0022	0.0003	0.0002	0.0011	0.0001	7.043e-05	3.325e-05	1.366e-05	0	0	0.0006	0	0.0011	0.0008	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	59.51	.	chr11	89968574	.	AT	A	59.51	.	AC=2;AF=0.333;AN=6;DP=37;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=41.53;QD=29.75;SOR=2.303	GT:AD:DP:GQ:PL	./.:.:.:.:.	2	1	0	7
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	167.97	59	chr11	90086558	.	G	C	167.97	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.036;DP=306;ExcessHet=0.8432;FS=77.195;InbreedingCoeff=-0.3037;MLEAC=3;MLEAF=0.214;MQ=35.27;MQRankSum=-1.185;QD=1.53;ReadPosRankSum=0.814;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:82:0|1:90086558_G_C:82,0,165:90086558	4	0	3	3
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	101.28	59	chr11	90086559	.	T	C	101.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.17;DP=296;ExcessHet=0.8432;FS=51.788;InbreedingCoeff=-0.3196;MLEAC=4;MLEAF=0.286;MQ=35.44;MQRankSum=-1.083;QD=0.93;ReadPosRankSum=1.39;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,3:8:82:0|1:90086558_G_C:82,0,165:90086558	4	0	3	3
chr11	90086869	90086869	G	A	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G920A:p.G307D	.	566	937	16	3	0	22	0.0116034	.	.	.	2813651	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0260	0.0208	0.25	0	.	0.0326	0	0	0.0015368	40	26028	rs199875717	0.0084	0.0083	0.0084	0.0083	0.0302	0.0082	0.0081	0.0253	0.0234	0.0013	0.0084	0.0069	0	0.0015	0.0302	0.0099	0.0076	0.0044	0.0060	0.0062	0.0067	0.0052	0.0093	0.0056	0.0055	0.0086	0.0084	0.0014	0.0423	0.0065	0.0075	0	0.0008	0.0305	0.0093	0.0059	0.0031	.	.	.	0.692	0.05882	T	0.974	0.57829	D	0.497	0.47562	P	.	.	.	.	.	.	.	1.385	0.34509	L	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0019410849	0.00027	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.1124879100645688	0.11177	.	.	0.672924399376	0.63254	T	0.023023	0.17644	T	-0.438589	0.01318	T	-0.407082	0.32562	T	.	.	.	0.425557	0.11413	T	0.106925346	0.25282	0.20098138	0.44057	0.106925346	0.25282	0.20098138	0.44056	-7.118	0.54890	T	.	.	0.375	0.58108	A	.	.	2.076388	0.26409	17.11	0.79514727965751031	0.12776	0.00824	0.03324	N	AEFI	.	.	.	.	.	.	.	.	.	1.97945905968477E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0431032	0.02392	0.999	0.999	0.18981	1.269000	0.32677	-2.534000	0.03638	0.311000	0.19140	0.007000	0.17678	0.000000	0.08366	0.463000	0.28185	0.0:0.0:1.0:0.0	5.393	0.15554	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011957	0.000000	0.011696	0.000000	0.000000	0.051724	0.020548	0.009259	0.05	375.43	35	chr11	90086869	.	G	A	375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=265;ExcessHet=0;FS=11.146;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.82;MQRankSum=1.75;QD=13.41;ReadPosRankSum=0.184;SOR=3.422	GT:AD:DP:GQ:PL	0/0:22,0:22:60:0,60,763	9	0	1	0
chr11	90152360	90152360	C	A	exonic	NAALAD2	.	stopgain	NAALAD2:NM_001300930:exon6:c.C672A:p.Y224X,NAALAD2:NM_005467:exon6:c.C672A:p.Y224X	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.525	0.55453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607496	0.97860	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.	High;.;.;.	6.844711	0.95813	35	0.99647319710165794	0.77068	0.95655	0.65597	D	AEFI	0.183521	0.31084	N	0.674096401201829	0.77935	6.771578	0.490492017713402	0.67359	5.073378	0.0102916550855062	0.12000	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.22	3.3	0.36912	2.320000	0.43456	0.766000	0.21355	-0.198000	0.09030	1.000000	0.71638	0.992000	0.31684	0.992000	0.67800	0.0:0.8421:0.0:0.1579	10.973	0.46662	915	0.20917	PA domain;PA domain;PA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1347.43	35	chr11	90152360	.	C	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.587;DP=425;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=2.16;SOR=0.531	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	92801016	92801016	A	T	exonic	FAT3	.	nonsynonymous SNV	FAT3:NM_001008781:exon10:c.A8003T:p.Q2668L,FAT3:NM_001367949:exon10:c.A8003T:p.Q2668L	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.011580631658	.	.	1.707e-05	0	0	0	0	3.069e-05	0	0	1.29e-05	2	154602	rs750299128	6.843e-06	6.84e-06	1.089e-05	2.751e-06	6.296e-06	3.46e-06	2.52e-06	2.62e-06	1.68e-06	0	0	0	0	3.747e-05	0	6.296e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.980812	0.39707	D	0.145	0.08828	N	0.69	0.51714	T	-2.52	0.54702	D	0.206	0.27077	-1.1064	0.03398	T	0.082	0.32353	T	9	0.24858463	0.42157	T	0.011581	0.29347	T	0.121	0.33580	0.712	0.84781	0.246926113748	0.24311	0.4554946193401014	0.45467	.	.	0.391885042191	0.23935	T	0.25472	0.62541	T	-0.166534	0.25761	T	-0.369334	0.36967	T	0.302102989357937	0.25090	T	.	.	.	0.18137057	0.39304	0.18828915	0.42111	0.18137057	0.39304	0.18828915	0.42110	-4.811	0.34720	T	.	.	0.118	0.24088	B	.;.	.;.	3.184845	0.43250	21.7	0.99443600682347733	0.64921	0.89475	0.49963	D	AEFBI	0.289724	0.40129	N	0.0621582035694334	0.44704	2.739607	0.158712916769826	0.47605	2.988281	0.0383676919818538	0.14344	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.17	3.75	0.42236	3.385000	0.52224	5.280000	0.48177	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7517:0.1272:0.0:0.1211	9.415	0.37677	900	0.24599	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2607.43	129	chr11	92801016	.	A	T	2607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=1367;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.491;SOR=0.682	GT:AD:DP:GQ:PL	0/0:121,0:121:99:0,120,1800	9	0	1	0
chr11	93706835	93706835	C	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon18:c.C5687T:p.P1896L	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	0.0007	0.00638978	0.0043	0.0023	0	0.0225	0	0.0007	0.0083	0.0083	0.0009702	150	154602	rs149280308	0.0010	0.0009	0.0008	0.0011	0.0151	0.0009	0.0009	0.0140	0.0136	0.0006	0.0001	0.0011	0.0151	2.032e-05	0.0004	9.277e-05	0.0014	0.0075	0.0013	0.0013	0.0010	0.0015	0.0174	0.0011	0.0011	0.0145	0.0134	0.0008	0	0.0002	0.0009	0.0174	0	0	0.0002	0	0.0091	0.003	0.68238	D	0.014	0.63109	D	0.628	0.40146	P	0.063	0.27082	B	0.644340	0.05886	N	1.252410	1	0.08975	N	.	.	.	1.57	0.29342	T	-2.71	0.90371	D	0.098	0.07949	-1.0193	0.23943	T	0.028	0.11926	T	10	0.0043031275	0.00087	T	.	.	.	0.046	0.12618	.	.	0.126345400529	0.12197	0.052836663715717595	0.05225	0.119112823779	0.13412	0.236834675074	0.02512	T	0.061598	0.44768	T	-0.526236	0.00404	T	-0.516354	0.20664	T	0.0169105972932362	0.00443	T	0.692831	0.30243	T	0.049719047	0.08872	0.08288143	0.18950	0.049719047	0.08871	0.08288143	0.18949	-3.983	0.23548	T	.	.	0.108	0.31906	B	.;.;.	.;.;.	1.394752	0.18080	13.54	0.98494912389534894	0.42144	0.02845	0.07598	N	AEFBI	0.030862	0.03186	N	-0.495069816671846	0.22241	1.186232	-0.573735770833667	0.20179	1.086008	2.68716967240464E-4	0.06244	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.14	2.96	0.33383	0.617000	0.24053	1.472000	0.26760	0.599000	0.40250	0.001000	0.13787	0.004000	0.18990	0.003000	0.05239	0.2604:0.6333:0.0:0.1063	4.998	0.13594	833	0.38804	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001250	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.05	770.43	33	chr11	93706835	.	C	T	770.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.369;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=1.18;SOR=0.708	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	9	0	1	0
chr11	93723151	93723151	C	T	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon21:c.C6058T:p.R2020W	.	.	.	.	.	.	.	.	.	.	.	2435127	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.0724419803599	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1043092895	2.929e-05	2.805e-05	3.524e-05	2.318e-05	9.495e-05	2.179e-05	1.961e-05	2.515e-05	1.918e-05	9.495e-05	0	3.971e-05	0	2.022e-05	0	3.058e-05	5.161e-05	0	5.915e-05	5.911e-05	5.138e-05	6.729e-05	0.0002	3.078e-05	2.21e-05	7.893e-05	5.589e-05	0.0002	0	0	0	0	0	0	2.939e-05	0	0	0.134	0.26300	T	0.042	0.50226	D	0.027	0.19556	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.55	0.13795	T	-0.72	0.37178	N	0.155	0.16028	-0.9728	0.36605	T	0.017	0.06807	T	9	0.036069185	0.01887	T	0.072442	0.71533	D	0.021	0.04004	0.224	0.14813	0.0138822411134	0.00435	0.06279667455958098	0.06218	0.0888589692762	0.10049	0.183066338301	0.00125	T	0.009432	0.08796	T	-0.406538	0.02097	T	-0.585072	0.14096	T	0.00891035589524258	0.00111	T	0.707329	0.31793	T	0.02327846	0.01054	0.0276104	0.00927	0.02327846	0.01053	0.0276104	0.00927	-5.11	0.38012	T	.	.	0.072	0.04080	B	.;.;.	.;.;.	0.656221	0.10244	6.983	0.57911475269565693	0.05874	0.01576	0.05139	N	AEFBI	0.052415	0.09352	N	-1.58158823117253	0.01359	0.05922199	-1.59618812886592	0.01678	0.07623238	0.761283006919283	0.23514	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.14	-1.51	0.08207	-0.093000	0.11077	0.616000	0.20081	-1.799000	0.00627	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1872:0.6055:0.0:0.2072	6.807	0.22966	831	0.39019	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	947.43	35	chr11	93723151	.	C	T	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.041;DP=436;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=-1.156;SOR=0.589	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1119	9	0	1	0
chr11	93727476	93727476	A	G	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon24:c.A7000G:p.I2334V	.	.	.	.	.	.	.	.	.	.	.	4120093	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.007	0.021622327775	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183327243	6.43e-06	6.156e-06	2.819e-06	1.014e-05	0.0004	3.03e-06	2.19e-06	6.157e-05	2.545e-05	0	0	0	0	0	0.0004	2.78e-06	3.44e-05	2.524e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.911	0.02361	T	0.939	0.04168	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	3.01	0.09075	T	-0.03	0.07444	N	0.045	0.01740	-0.9883	0.33027	T	0.009	0.03011	T	9	0.0210253	0.00495	T	0.021622	0.44413	T	0.007	0.00512	0.256	0.19689	0.0138822411134	0.00435	0.020892862646352702	0.02042	0.0686214114366	0.07686	0.263979494572	0.05374	T	0.004567	0.03978	T	-0.443651	0.01231	T	-0.875051	0.00696	T	0.032034800917156	0.02311	T	0.491551	0.15120	T	0.020357877	0.00591	0.020144293	0.00121	0.020357877	0.00591	0.020144293	0.00121	-3.05	0.11434	T	.	.	0.077	0.06433	B	.;.;.	.;.;.	-0.403152	0.02202	0.219	0.5977702187924806	0.06304	0.00949	0.03655	N	AEFDBCI	0.027740	0.02320	N	-2.05311664678048	0.00162	0.006945934	-2.15170903806897	0.00144	0.006313331	0.999999999997751	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.93	-9.86	0.00393	-0.919000	0.04125	-2.033000	0.04315	-1.127000	0.01463	0.000000	0.06391	0.000000	0.08366	0.038000	0.14061	0.4428:0.2452:0.1472:0.1647	1.989	0.03234	836	0.38045	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1350.43	34	chr11	93727476	.	A	G	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.058;DP=412;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.08;ReadPosRankSum=-0.976;SOR=0.487	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr11	94110942	94110942	C	T	exonic	HEPHL1	.	nonsynonymous SNV	HEPHL1:NM_001098672:exon18:c.C3085T:p.P1029S	.	428	1088	6	0	0	6	0.00274977	.	.	.	2840002	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.882	0.138820305924	.	.	0.0006	0	0.0001	0	0.0003	0.0008	0	0.0009	0.0004851	75	154602	rs201995404	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0004	0.0008	0.0006	5.977e-05	0.0001	0.0002	0	0.0002	0.0016	0.0005	0.0006	0.0006	0.0004	0.0004	0.0004	0.0005	0.0008	0.0004	0.0003	0.0006	0.0006	7.25e-05	0	0.0001	0	0	0.0004	0	0.0008	0	0.0008	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999984	0.54805	D	2.72	0.79541	M	-8.65	0.99946	D	-7.19	0.94196	D	0.784	0.78072	0.915	0.95894	D	0.998	0.99947	D	10	0.7619735	0.76415	D	0.13882	0.82131	D	0.882	0.96539	.	.	0.84021819409	0.83868	0.8615189594231787	0.86115	0.284960885881	0.30907	0.650515675545	0.60059	T	0.764882	0.93660	D	0.248508	0.78461	D	0.503661	0.94716	D	0.506450653076172	0.32866	D	1.000	0.99895	D	0.7246431	0.79421	0.82221925	0.89681	0.7246431	0.79423	0.82221925	0.89681	-8.78	0.66270	D	.	.	0.831	0.78781	P	.	.	4.916401	0.80938	27.4	0.99911103323694272	0.98022	0.99185	0.92484	D	AEFDGBI	0.860757	0.77868	D	0.950015314780965	0.93986	12.419	0.910972367952244	0.96034	14.22896	0.999999999998802	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.97	5.97	0.96935	7.251000	0.77723	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:1.0:0.0:0.0	20.436	0.99091	712	0.56465	Multicopper oxidase, type 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1340.43	35	chr11	94110942	.	C	T	1340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.647;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.44;SOR=0.674	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	9	0	1	0
chr11	94447222	94447222	T	C	exonic	MRE11	.	nonsynonymous SNV	MRE11:NM_001330347:exon15:c.A1780G:p.R594G,MRE11:NM_005590:exon15:c.A1780G:p.R594G,MRE11:NM_005591:exon15:c.A1780G:p.R594G	Ataxia-telangiectasia-like disorder, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	151258	Ataxia-telangiectasia-like_disorder_1|Ataxia-telangiectasia-like_disorder|not_specified|Hereditary_breast_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.292	.	.	0.00299521	0.0013	9.614e-05	8.637e-05	0	0	1.498e-05	0	0.0095	0.001216	188	154602	rs576878377	0.0005	0.0005	0.0003	0.0007	0.0084	0.0005	0.0005	0.0079	0.0077	2.988e-05	0	0	0	0	0.0016	1.799e-06	0.0008	0.0084	0.0004	0.0004	0.0002	0.0006	0.0112	0.0003	0.0003	0.0088	0.0080	0	0	0	0	0	0	0	0	0	0.0112	0.162	0.63226	T	0.05	0.48080	T	0.963	0.55692	D	0.491	0.47360	P	0.000067	0.52346	D	0.167211	0.999904	0.50806	D	2.47	0.71715	M	-0.92	0.75215	T	-1.94	0.45042	N	0.422	0.46742	-0.5593	0.66430	T	0.356	0.71850	T	10	0.004068464	0.00154	T	.	.	.	0.292	0.61157	0.368	0.37687	0.758571294925	0.75638	0.6455945510550499	0.64494	0.108866262484	0.12275	0.444576978683	0.31202	T	0.253451	0.62397	T	-0.283173	0.10335	T	-0.173279	0.57142	T	0.0699206025124716	0.08640	T	0.781822	0.41691	T	0.09194721	0.21558	0.0976069	0.23239	0.10864615	0.25689	0.09614296	0.22832	-4.36	0.29285	T	.	.	0.151	0.39647	B	.;.;.;.	.;.;.;.	2.503021	0.32310	19.00	0.99694068704243044	0.80112	0.73739	0.36068	D	AEFBI	0.181009	0.30832	N	-0.0629755864879579	0.39025	2.29482	-0.0492299148539413	0.37524	2.198205	0.0968549478886286	0.16264	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	0.737	0.17463	1.079000	0.30378	1.191000	0.24766	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.064:0.4298:0.5061	9.489	0.38113	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	460.43	33	chr11	94447222	.	T	C	460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.76;DP=341;ExcessHet=0;FS=8.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.79;SOR=0.091	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1056	9	0	1	0
chr11	94528131	94528131	G	A	exonic	C11orf97	.	nonsynonymous SNV	C11orf97:NM_001190462:exon3:c.G298A:p.G100S	.	438	944	131	9	0	149	0.0731468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107827	0.0327	0.0054	0.0106	0	0	0.0239	0.0379	0.0402	0.0043337	670	154602	rs12802057	0.0088	0.0084	0.0077	0.0099	0.0687	0.0087	0.0086	0.0631	0.0608	0.0066	0.0086	0.0279	0.0002	0.0008	0.0687	0.0062	0.0150	0.0377	0.0082	0.0082	0.0075	0.0090	0.0321	0.0079	0.0077	0.0280	0.0264	0.0056	0.0011	0.0098	0.0268	0.0002	0.0002	0.0442	0.0083	0.0194	0.0321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0038235784	0.00072	T	.	.	.	.	.	.	.	.	.	0.09051444811491477	0.08984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.520648	0.16939	T	0.046739276	0.07874	0.13153316	0.31583	0.046739276	0.07874	0.13153316	0.31582	-3.12	0.11527	T	.	.	0.066	0.02228	B	.	.	1.111347	0.14965	11.48	0.78473321330434909	0.12316	0.48366	0.28191	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929341479701201	0.26965	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.340229	0.35942	5.56	0.771	0.17648	0.488000	0.22080	0.510000	0.19072	0.654000	0.53741	0.995000	0.38783	0.969000	0.29651	0.948000	0.49324	0.3869:0.0:0.6131:0.0	9.309	0.37057	859	0.33891	.	.	.	.	.	rs12802057	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.060317	0.046667	0.130952	0.086420	0.000000	0.000000	0.047945	0.121622	0.1	2877.12	36	chr11	94528131	.	G	A	2877.12	.	AC=2;AF=0.1;AN=20;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.77;SOR=1.167	GT:AD:DP:GQ:PL	1/1:0,100:100:99:2900,300,0	9	1	0	0
chr11	94589192	94589192	G	A	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon8:c.G986A:p.R329Q	.	434	1047	38	3	0	44	0.02058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00244002209194	0.0021	0.00279553	0.0031	0.0009	0.0018	0.0003	0.0003	0.0033	0.0022	0.0072	0.0028266	437	154602	rs149372122	0.0023	0.0023	0.0021	0.0025	0.0302	0.0023	0.0022	0.0265	0.0251	0.0015	0.0021	0.0179	0.0003	0.0001	0.0302	0.0016	0.0049	0.0065	0.0022	0.0022	0.0021	0.0023	0.0075	0.0020	0.0019	0.0056	0.0049	0.0006	0	0.0031	0.0193	0.0004	0.0002	0.0170	0.0020	0.0066	0.0075	0.291	0.14945	T	0.539	0.09795	T	0.104	0.25941	B	0.041	0.23986	B	0.008016	0.31069	N	0.221517	0.971075	0.25672	N	2.335	0.66956	M	2.53	0.14038	T	-0.9	0.24244	N	0.103	0.08646	-1.0311	0.20099	T	0.017	0.06855	T	10	0.005399823	0.00119	T	0.00244	0.04813	T	0.013	0.01715	.	.	0.39694197178	0.39312	0.18378899712524147	0.18297	0.376133211831	0.39054	0.261308073997	0.05048	T	0.019712	0.15652	T	-0.605849	0.00134	T	-0.639869	0.09678	T	0.0138040315181403	0.00261	T	0.838616	0.51177	T	0.15862426	0.35676	0.17096731	0.39245	0.15862426	0.35676	0.17096731	0.39245	-6.037	0.46588	T	.	.	0.089	0.12084	B	.	.	2.953575	0.39306	20.9	0.9918277867257318	0.54730	0.71900	0.35215	D	AEFBI	0.103335	0.20706	N	-0.26063306178762	0.30680	1.713019	-0.121544618188335	0.34523	1.986769	0.00824028543392635	0.11637	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.96	2.99	0.33673	1.442000	0.34656	2.413000	0.32651	0.676000	0.76740	0.998000	0.41325	0.939000	0.28734	0.997000	0.79791	0.2858:0.0:0.7142:0.0	7.358	0.25902	793	0.45818	PAZ domain|PAZ domain|PAZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.023162	0.005051	0.021739	0.032164	0.000000	0.051724	0.024390	0.022727	0.1	3411.12	33	chr11	94589192	.	G	A	3411.12	.	AC=2;AF=0.1;AN=20;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.19;SOR=0.743	GT:AD:DP:GQ:PL	1/1:0,121:121:99:3434,363,0	9	1	0	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	162.04	43	chr11	94618061	.	G	C	162.04	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.092;DP=573;ExcessHet=0.7463;FS=267.11;InbreedingCoeff=-0.2199;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.845;SOR=9.364	GT:AD:DP:GQ:PL	0/0:44,10:54:5:0,5,742	6	0	3	1
chr11	94821561	94821561	A	G	exonic	AMOTL1	.	nonsynonymous SNV	AMOTL1:NM_001301007:exon3:c.A1003G:p.M335V,AMOTL1:NM_130847:exon4:c.A1153G:p.M385V	.	420	1088	14	0	0	14	0.00639269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0002	0.0071885	0.0055	0.0013	0.0003	0.0001	0	7.692e-05	0.0023	0.0389	0.0046442	718	154602	rs201040287	0.0022	0.0022	0.0012	0.0033	0.0357	0.0022	0.0022	0.0346	0.0342	0.0009	0.0001	0	2.519e-05	0	0.0023	1.799e-05	0.0023	0.0357	0.0014	0.0014	0.0008	0.0021	0.0344	0.0013	0.0012	0.0302	0.0285	0.0011	0	0.0001	0	0	0	0	2.941e-05	0.0009	0.0344	0.328	0.13219	T	0.505	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.397289	0.13173	N	0.723004	1	0.08975	N	-1.04	0.01097	N	2.68	0.12371	T	-0.35	0.12847	N	0.066	0.03841	-0.9661	0.37994	T	0.016	0.06329	T	10	0.0018446147	0.00025	T	.	.	.	0.109	0.30843	.	.	0.130388298395	0.12655	0.1954970617707738	0.19466	0.2003201085	0.22433	0.314447939396	0.12580	T	0.004737	0.04154	T	-0.71865	0.00028	T	-0.778607	0.02496	T	0.00236667993841907	0.00024	T	0.413759	0.10783	T	0.029494366	0.02453	0.043070298	0.05276	0.029494366	0.02453	0.043070298	0.05276	-3.133	0.11808	T	.	.	0.047	0.00075	B	.;.	.;.	1.006529	0.13851	10.41	0.31437279080009906	0.01772	0.03884	0.09254	N	AEFDBI	0.017526	0.00465	N	-0.897342234471071	0.10904	0.5234908	-0.761000554194568	0.15453	0.8127573	0.968955337649672	0.29091	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.96	1.78	0.23918	1.364000	0.33775	4.354000	0.43097	-0.137000	0.12594	0.669000	0.28339	1.000000	0.68203	0.890000	0.42831	0.0804:0.4407:0.4789:0.0	10.326	0.42976	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.022727	0.05	1280.43	38	chr11	94821561	.	A	G	1280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.103;DP=417;ExcessHet=0;FS=1.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=1.15;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1081	9	0	1	0
chr11	94853952	94853952	A	C	exonic	AMOTL1	.	nonsynonymous SNV	AMOTL1:NM_001301007:exon7:c.A1664C:p.Y555S,AMOTL1:NM_130847:exon8:c.A1814C:p.Y605S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.0213497206976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.99	0.64070	D	0.972	0.74104	D	0.000010	0.62929	D	0.000000	1	0.81001	D	2.61	0.76335	M	1.82	0.25018	T	-8.07	0.96635	D	0.844	0.84817	-0.8020	0.55026	T	0.169	0.50890	T	10	0.77672243	0.77520	D	0.02135	0.44105	T	0.481	0.77142	0.198	0.11110	0.453867917445	0.45007	0.7960469722273764	0.79557	0.932263926279	0.71875	0.734765827656	0.72203	T	0.466575	0.80126	T	0.245038	0.78135	D	0.114204	0.77850	D	0.997479498386383	0.91644	D	0.973903	0.90628	D	0.8209568	0.85284	0.82217276	0.89679	0.8209568	0.85286	0.82217276	0.89679	-8.398	0.63752	D	.	.	0.343	0.65047	A	.;.	.;.	4.874062	0.79872	27.2	0.98055753209393859	0.37905	0.99804	0.99578	D	AEFBI	0.889353	0.82334	D	0.609686964119477	0.73786	6.023462	0.505217986306405	0.68340	5.206691	0.999999998100186	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	8.987000	0.93058	11.159000	0.87591	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	1.0:0.0:0.0:0.0	14.842	0.69865	889	0.27310	.;Angiomotin, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	34	chr11	94853952	.	A	C	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=413;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.533;SOR=1.135	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	9	0	1	0
chr11	94998442	94998442	A	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.A1070G:p.E357G	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0037	0.00998403	0.0072	0.0097	0.0024	0.0002	0	0.0020	0.0188	0.0355	0.0063906	988	154602	rs76057256	0.0039	0.0039	0.0028	0.0050	0.0361	0.0038	0.0038	0.0351	0.0347	0.0100	0.0025	3.826e-05	0.0002	0.0001	0.0142	0.0016	0.0054	0.0361	0.0058	0.0058	0.0059	0.0056	0.0304	0.0054	0.0053	0.0264	0.0249	0.0111	0	0.0089	0.0003	0	9.411e-05	0.0102	0.0017	0.0066	0.0304	0.005	0.63226	D	0.075	0.42794	T	0.986	0.61523	D	0.717	0.54739	P	0.000006	0.62929	U	0.000000	1	0.08975	N	1.935	0.51832	L	1.46	0.32238	T	-5.57	0.86372	D	0.042	0.02559	-1.0566	0.12621	T	0.055	0.23224	T	10	0.004995674	0.00107	T	.	.	.	0.082	0.23913	.	.	0.372268306217	0.36840	0.7254151298995516	0.72485	0.691323969143	0.60588	0.365792542696	0.20226	T	0.341384	0.71029	T	-0.607426	0.00131	T	-0.618842	0.11275	T	0.0720550780844124	0.08936	T	0.242976	0.03512	T	0.41269726	0.61602	0.2966068	0.55694	0.41269726	0.61603	0.2966068	0.55693	-5.24	0.39346	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	1.733267	0.22059	15.46	0.99500475937407351	0.67973	0.47774	0.28058	N	AEFDGBI	0.074009	0.14822	N	-0.296844974326509	0.29270	1.621704	-0.500331210384512	0.22145	1.201373	0.0135475313907863	0.12479	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.56	-1.5	0.08233	0.980000	0.29111	-1.299000	0.05779	0.658000	0.54486	0.756000	0.29198	0.000000	0.08366	0.140000	0.19946	0.5476:0.182:0.2704:0.0	4.004	0.09081	944	0.12746	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017623	0.000000	0.013587	0.020468	0.050000	0.008621	0.009146	0.034091	0.05	2214.43	43	chr11	94998442	.	A	G	2214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.336;DP=507;ExcessHet=0;FS=3.384;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.423;SOR=0.972	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1067	9	0	1	0
chr11	95027059	95027059	T	A	exonic	KDM4E	.	nonsynonymous SNV	KDM4E:NM_001161630:exon1:c.T1502A:p.M501K	.	430	1053	36	3	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0053	0.00878594	0.0220	0.0012	0.0184	0	0	0.0142	0.0181	0.0344	0.0037322	577	154602	rs138237692	0.0069	0.0065	0.0062	0.0076	0.0326	0.0068	0.0067	0.0316	0.0312	0.0013	0.0024	0.0315	0.0001	0.0008	0.0233	0.0049	0.0093	0.0326	0.0046	0.0046	0.0043	0.0048	0.0292	0.0043	0.0042	0.0253	0.0238	0.0009	0	0.0026	0.0305	0.0002	0.0004	0.0102	0.0051	0.0061	0.0292	0.001	0.78490	D	0.002	0.79402	D	0.813	0.45457	P	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.66	0.27486	T	-0.76	0.21215	N	0.097	0.07811	-1.0483	0.14875	T	0.024	0.10103	T	9	0.003069669	0.00051	T	.	.	.	0.166	0.42578	.	.	.	.	0.6004198705781656	0.59972	0.56785414273	0.53028	0.431474715471	0.29409	T	0.004693	0.04103	T	-0.503249	0.00548	T	-0.470592	0.25453	T	0.0105413857863969	0.00146	T	0.271273	0.04576	T	0.4697091	0.65272	0.35971227	0.61425	0.4697091	0.65273	0.35971227	0.61425	-2.291	0.04506	T	.	.	0.087	0.10979	B	.	.	0.395647	0.07671	4.341	0.81177585983080713	0.13557	0.02618	0.07200	N	AEFGBI	0.034436	0.04266	N	-0.712274400931302	0.15677	0.7921231	-0.856568180653819	0.13130	0.6794357	0.621212821137092	0.21887	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.82	1.82	0.24209	-0.467000	0.06741	-3.521000	0.02724	-0.371000	0.05444	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.0:1.0	5.691	0.17102	944	0.12746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019360	0.017045	0.024691	0.030769	0.000000	0.017857	0.022321	0.020548	0.05	1340.43	43	chr11	95027059	.	T	A	1340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=438;ExcessHet=0;FS=0.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=-0.654;SOR=0.893	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1241	9	0	1	0
chr11	95786216	95786216	C	T	exonic	FAM76B	.	nonsynonymous SNV	FAM76B:NM_001330357:exon4:c.G266A:p.R89H,FAM76B:NM_144664:exon4:c.G266A:p.R89H	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0184063697764	0.0017	0.000399361	0.0012	0.0004	0.0014	0	0.0014	0.0018	0.0011	0	0.0012031	186	154602	rs200608990	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0005	0.0010	0.0012	0.0002	0.0016	0	0.0021	0.0014	2.319e-05	0.0015	0.0015	0.0014	0.0016	0.0020	0.0013	0.0013	0.0017	0.0016	0.0005	0.0230	0.0012	0.0012	0	0.0025	0	0.0020	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	.	.	.	-4.71	0.79915	D	0.928	0.93252	0.113	0.84404	D	0.549	0.83451	D	9	0.058609843	0.06918	T	0.018406	0.40464	T	0.557	0.81774	.	.	0.760279501416	0.75809	0.6703553667773188	0.66973	1.04418234195	0.75899	0.896573245525	0.96050	D	0.345062	0.71349	T	0.151959	0.69451	D	0.439644	0.93311	D	0.0635901489118956	0.07721	T	0.969703	0.89491	D	0.7999959	0.83905	0.7218437	0.83574	0.7999959	0.83907	0.7218437	0.83575	-12.893	0.88917	D	.	.	0.970	0.89434	P	.;.	.;.	5.984437	0.94261	34	0.9994265991635074	0.99824	0.98688	0.85598	D	AEFDBI	0.918308	0.88719	D	0.947119074555468	0.93869	12.33482	0.926661326983008	0.96633	14.941	1.0	0.98316	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.96	5.96	0.96695	7.842000	0.85116	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.401	0.98992	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2111.43	42	chr11	95786216	.	C	T	2111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=530;ExcessHet=0;FS=2.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.105;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1272	9	0	1	0
chr11	96092091	96092093	TGT	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1938_1940del:p.Q665del	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0	0	0.0023	3.84e-05	1	26028	rs781413748	0.0001	0.0001	6.944e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	2.803e-05	0	2.803e-05	0	0	1.861e-06	3.469e-05	0.0024	8.632e-05	9.236e-05	6.494e-05	0.0001	0.0027	5.007e-05	4.001e-05	0.0016	0.0013	0	0	0	0	0	0	0	0	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2931.39	36	chr11	96092090	.	CTGT	C	2931.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.119;DP=524;ExcessHet=0;FS=8.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.55;ReadPosRankSum=0.223;SOR=0.271	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1233	9	0	1	0
chr11	96383374	96383374	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon5:c.G886A:p.D296N,CCDC82:NM_024725:exon5:c.G886A:p.D296N,CCDC82:NM_001318736:exon6:c.G886A:p.D296N,CCDC82:NM_001363594:exon6:c.G817A:p.D273N	.	.	.	.	.	.	.	.	.	.	.	3644742	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.143	0.0496602170952	7.7e-05	.	5.169e-05	0	0	0	0	9.989e-05	0	0	3.23e-05	5	154602	rs146108139	4.966e-05	4.994e-05	4.117e-05	5.825e-05	0.0002	4.026e-05	3.7e-05	4.006e-05	3.6e-05	3.01e-05	2.277e-05	0	2.538e-05	0	0.0002	5.073e-05	8.358e-05	8.185e-05	4.61e-05	4.598e-05	6.437e-05	2.697e-05	8.843e-05	2.114e-05	1.53e-05	3.77e-05	2.58e-05	2.416e-05	0	0	0	0	0	0	8.843e-05	0	0	0.025	0.47320	D	0.017	0.60337	D	1.0	0.90584	D	0.996	0.84481	D	0.001154	0.40056	N	0.176139	0.603132	0.30924	N	2.045	0.56016	M	0.89	0.45636	T	-1.95	0.45222	N	0.445	0.48596	-0.6035	0.64672	T	0.212	0.57321	T	10	0.1899361	0.34615	T	0.04966	0.63910	D	0.143	0.38195	.	.	0.664167852428	0.66135	0.09939613187616325	0.09870	0.296829550699	0.32070	0.544128894806	0.45029	T	0.020996	0.16432	T	-0.307206	0.07996	T	-0.473551	0.25135	T	0.243418633937836	0.22576	T	0.859314	0.55818	D	0.08441424	0.19538	0.093031496	0.21955	0.08441424	0.19538	0.093031496	0.21954	-8.022	0.61220	D	.	.	0.186	0.51059	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.915585	0.80911	27.4	0.99920578593157916	0.98721	0.58777	0.30734	D	AEFDBI	0.137471	0.25846	N	0.65952935304868	0.76986	6.588725	0.654492049678916	0.78945	6.979649	0.999581169592789	0.40607	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	3.066000	0.49695	7.629000	0.62648	0.539000	0.25131	0.998000	0.41325	1.000000	0.68203	0.986000	0.61781	0.0:0.9147:0.0:0.0853	10.947	0.46520	.	.	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2078.43	33	chr11	96383374	.	C	T	2078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.082;DP=474;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-2.608;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	9	0	1	0
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.05	2649.43	33	chr11	96384356	.	C	T	2649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=803;ExcessHet=0;FS=7.289;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.902;SOR=0.715	GT:AD:DP:GQ:PL	0/0:146,0:146:99:0,120,1800	9	0	1	0
chr11	99845260	99845260	C	T	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon3:c.C353T:p.A118V,CNTN5:NM_001243270:exon5:c.C575T:p.A192V,CNTN5:NM_001243271:exon6:c.C575T:p.A192V,CNTN5:NM_014361:exon6:c.C575T:p.A192V	.	432	1088	1	1	0	3	0.00137678	0.9997	0.822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0955801995685	.	.	0.0001	0.0001	8.679e-05	0	0	0	0	0.0007	7.76e-05	12	154602	rs201449127	5.857e-05	6.157e-05	2.469e-05	9.279e-05	0.0009	4.845e-05	4.464e-05	0.0007	0.0007	0	0	0	0	0	0	7.234e-06	5.009e-05	0.0009	1.984e-05	1.975e-05	0	4.068e-05	0.0004	5.27e-06	2.46e-06	7.35e-05	3.051e-05	0	0	0	0	0	0	0	1.473e-05	0	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.95	0.53885	P	0.147	0.37837	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	1.11	0.38883	T	-2.99	0.62151	D	0.878	0.88577	-0.4209	0.71363	T	0.188	0.53871	T	10	0.4104154	0.56185	T	0.09558	0.76453	D	0.414	0.72479	0.556	0.67409	0.631027719221	0.62800	0.5996038817020767	0.59891	0.0567399249057	0.06275	0.647275149822	0.59599	T	0.615514	0.87875	D	-0.0213148	0.48666	T	0.0980487	0.76779	D	0.326015305008018	0.26064	T	0.986201	0.95317	D	0.6373848	0.74691	0.5720943	0.75218	0.6373848	0.74693	0.5720943	0.75219	-10.546	0.77111	D	.	.	0.553	0.67923	A	.;.;.;.;.;.	.;.;.;.;.;.	4.774215	0.77316	26.7	0.99824228292793638	0.90677	0.98735	0.86182	D	AEFI	0.946582	0.95619	D	0.748562222664447	0.82811	7.85587	0.763226955883042	0.87144	9.121162	0.999992115374766	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	7.507000	0.80548	7.541000	0.60087	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.031	0.92935	925	0.17918	.;Immunoglobulin subtype;Immunoglobulin subtype;.;Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	521.43	33	chr11	99845260	.	C	T	521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.031;DP=350;ExcessHet=0;FS=8.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=-0.48;SOR=0.051	GT:AD:DP:GQ:PL	0/1:13,19:32:99:533,0,417	9	0	1	0
chr11	100297678	100297678	T	A	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon16:c.T2146A:p.L716I,CNTN5:NM_001243270:exon18:c.T2368A:p.L790I,CNTN5:NM_001243271:exon19:c.T2368A:p.L790I,CNTN5:NM_014361:exon19:c.T2368A:p.L790I	.	431	1080	11	0	0	11	0.00506679	.	.	.	3213472	CNTN5-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.330	.	0.0062	0.00159744	0.0097	0.0018	0.0018	0	0.0130	0.0134	0.0066	0.0088	0.0067205	1039	154602	rs141228828	0.0093	0.0093	0.0094	0.0091	0.0107	0.0092	0.0091	0.0106	0.0105	0.0011	0.0015	0.0001	7.618e-05	0.0090	0.0084	0.0107	0.0072	0.0065	0.0062	0.0062	0.0065	0.0059	0.0098	0.0059	0.0057	0.0092	0.0089	0.0015	0	0.0037	0	0	0.0110	0.0102	0.0098	0.0033	0.0066	0.02	0.91255	D	0.0	0.92824	D	0.235	0.30743	B	0.072	0.28043	B	0.000000	0.84330	D	0.000000	0.998974	0.45795	D	1.755	0.45626	L	0.21	0.59983	T	-1.76	0.42575	N	0.731	0.79792	-0.8277	0.53448	T	0.142	0.46257	T	10	0.0114889145	0.00251	T	.	.	.	0.330	0.65226	.	.	0.362160248664	0.35833	0.4548320535589682	0.45401	0.271544627046	0.29673	0.735427737236	0.72301	T	0.317153	0.68863	T	-0.276512	0.11040	T	-0.157643	0.58563	T	0.025685362899914	0.01363	T	0.993026	0.97738	D	0.65898806	0.75845	0.4084915	0.65165	0.65898806	0.75846	0.4084915	0.65165	-8.591	0.72163	D	.	.	0.168	0.42906	B	.;.;.;.;.;.	.;.;.;.;.;.	1.847466	0.23471	16.03	0.97289887814310527	0.33228	0.85885	0.45071	D	AEFDGIJ	0.302764	0.41092	N	-0.740074647032995	0.14904	0.7464821	-0.762959083136581	0.15405	0.8099994	0.186479893265856	0.17943	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	-3.19	0.04853	0.408000	0.20787	-1.509000	0.05279	-0.703000	0.04025	0.991000	0.37257	0.000000	0.08366	0.751000	0.35822	0.0:0.5481:0.0:0.4519	13.656	0.61814	917	0.20147	.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011089	0.005051	0.010870	0.023392	0.000000	0.017241	0.003067	0.011364	0.05	800.43	89	chr11	100297678	.	T	A	800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.18;DP=459;ExcessHet=0;FS=7.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.99;ReadPosRankSum=1.1;SOR=1.559	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1228	9	0	1	0
chr11	100299191	100299191	A	C	exonic	CNTN5	.	nonsynonymous SNV	CNTN5:NM_175566:exon17:c.A2193C:p.E731D,CNTN5:NM_001243270:exon19:c.A2415C:p.E805D,CNTN5:NM_001243271:exon20:c.A2415C:p.E805D,CNTN5:NM_014361:exon20:c.A2415C:p.E805D	.	433	1075	14	0	0	14	0.0064695	.	.	.	701514	CNTN5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.255	.	8.5e-05	0.00239617	0.0025	0	0.0002	0	0	0.0004	0.0040	0.0156	0.001727	267	154602	rs200512456	0.0009	0.0009	0.0005	0.0012	0.0120	0.0008	0.0008	0.0114	0.0111	0	0.0002	0.0019	0	1.881e-05	0.0026	0.0001	0.0012	0.0120	0.0004	0.0004	0.0002	0.0006	0.0089	0.0003	0.0003	0.0068	0.0061	0	0	0.0003	0.0009	0	0	0	5.919e-05	0.0019	0.0089	0.471	0.91255	T	0.158	0.31629	T	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	0.67	0.16346	N	0.35	0.58029	T	-0.12	0.57762	N	0.563	0.58883	-0.8493	0.52017	T	0.218	0.58007	T	10	0.012979388	0.00277	T	.	.	.	0.255	0.56562	0.429	0.47680	0.703283205912	0.70070	0.483144350214152	0.48234	0.196112893007	0.21964	0.648430585861	0.59763	T	0.103307	0.41184	T	-0.273096	0.11414	T	-0.153383	0.58942	T	0.127006016940576	0.15102	T	0.864214	0.56597	D	0.2177727	0.44269	0.11767534	0.28406	0.2177727	0.44269	0.11767534	0.28405	-4.128	0.33872	T	.	.	0.163	0.46296	B	.;.;.;.;.;.	.;.;.;.;.;.	3.600165	0.50844	23.0	0.99700616506739681	0.80591	0.95189	0.63766	D	AEFI	0.836621	0.75436	D	0.415686442030167	0.62284	4.441803	0.428819024332631	0.63367	4.569113	6.96455612121206E-4	0.07645	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	4.49	0.54177	4.802000	0.62233	6.936000	0.56975	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9262:0.0:0.0738:0.0	10.873	0.46104	919	0.19497	.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.007576	0.05	409.43	34	chr11	100299191	.	A	C	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.492;DP=357;ExcessHet=0;FS=1.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=0.652;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	9	0	1	0
chr11	101127464	101127464	T	G	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.A1607C:p.Q536P,PGR:NM_001202474:exon1:c.A1115C:p.Q372P,PGR:NM_001271161:exon1:c.A1115C:p.Q372P	.	0	1519	3	0	0	3	0.000986518	.	.	.	724155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0031	0.00858626	0.0036	0.0567	0.0048	0	0	0.0001	0	0.0001	0.0010931	169	154602	rs11571152	0.0005	0.0005	0.0006	0.0005	0.0175	0.0005	0.0005	0.0163	0.0158	0.0175	0.0013	0	0	0	0.0012	4.411e-05	0.0019	9.991e-05	0.0047	0.0047	0.0048	0.0045	0.0159	0.0044	0.0043	0.0149	0.0145	0.0159	0	0.0028	0	0	0	0	7.358e-05	0.0019	0	0.092	0.38863	T	0.253	0.27679	T	0.055	0.22733	B	0.026	0.20792	B	0.716625	0.09970	N	0.773349	0.967196	0.81001	D	1.5	0.37844	L	2.95	0.09635	T	-1.61	0.40660	N	0.246	0.36148	-1.0455	0.15680	T	0.017	0.06950	T	10	0.0048434734	0.00103	T	.	.	.	0.043	0.11576	.	.	0.399796912067	0.39594	0.5782030882205793	0.57749	.	.	0.718276500702	0.69795	T	0.110623	0.42546	T	-0.532922	0.00369	T	-0.524002	0.19890	T	0.020587926921167	0.00759	T	0.70223	0.32446	T	0.35324353	0.57318	0.37499183	0.62653	0.35324353	0.57318	0.37499183	0.62652	-3.504	0.24460	T	.	.	0.064	0.08224	B	.;.;.;.	.;.;.;.	2.191271	0.27940	17.63	0.9358195746043747	0.23430	0.76269	0.37393	D	AEFDBHCIJ	0.182000	0.30932	N	-0.655192677972204	0.17309	0.8895835	-0.544082436977531	0.20963	1.131827	0.999996945565946	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.03	2.87	0.32523	0.863000	0.27567	1.855000	0.29283	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:0.0:0.3506:0.6493	9.327	0.37159	893	0.26510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002709	0.011494	0.001374	0.000000	0.000000	0.018182	0.000000	0.000000	0.05	386.43	33	chr11	101127464	.	T	G	386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.637;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.048;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	9	0	1	0
chr11	101127728	101127728	A	G	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.T1343C:p.V448A,PGR:NM_001202474:exon1:c.T851C:p.V284A,PGR:NM_001271161:exon1:c.T851C:p.V284A	.	0	1516	6	0	0	6	0.00197498	.	.	.	2338921	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.0409945393989	0.0004	.	0.0005	0	0	0	0	0.0005	0	0.0009	0.0001682	26	154602	rs372127017	0.0002	0.0002	0.0002	0.0003	0.0007	0.0002	0.0002	0.0006	0.0005	0	6.998e-05	0	0	0	0.0005	0.0002	0.0003	0.0007	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.72e-05	0.0002	0.0002	2.41e-05	0	0.0001	0	0	0	0.0034	0.0003	0	0.0004	0.447	0.16144	T	0.543	0.13912	T	0.004	0.12183	B	0.004	0.10090	B	0.000604	0.00648	N	756.024000	1	0.08975	N	1.455	0.36767	L	3.16	0.07711	T	-0.5	0.24026	N	0.09	0.07673	-1.0093	0.27136	T	0.016	0.06521	T	10	0.03369063	0.01552	T	0.040995	0.59686	D	0.109	0.30843	.	.	0.339440827056	0.33553	0.1645580229179208	0.16375	.	.	0.847831130028	0.89286	D	0.075366	0.35161	T	-0.613495	0.00121	T	-0.743175	0.03758	T	0.0130986220235572	0.00230	T	0.563744	0.21138	T	0.017688388	0.00294	0.025443757	0.00590	0.017688388	0.00293	0.025443757	0.00590	-0.544	0.00627	T	.	.	0.102	0.25817	B	.;.;.;.	.;.;.;.	0.299618	0.06756	3.268	0.54952061656926587	0.05242	0.02156	0.06336	N	AEFDBCI	0.015800	0.00319	N	-1.20008862031781	0.05000	0.2269099	-1.25479129873196	0.05060	0.240232	0.999990747974145	0.74766	0.623204	0.39778	0	0.563428	0.19063	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.77	-0.419	0.11725	-0.105000	0.10876	-0.642000	0.08072	0.624000	0.51786	0.001000	0.13787	0.000000	0.08366	0.015000	0.10482	0.2101:0.3588:0.2757:0.1553	1.369	0.02075	893	0.26510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001534	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1104.43	111	chr11	101127728	.	A	G	1104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.623;DP=449;ExcessHet=0;FS=5.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.027;SOR=1.225	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	9	0	1	0
chr11	101472268	101472268	C	T	exonic	TRPC6	.	nonsynonymous SNV	TRPC6:NM_004621:exon8:c.G2074A:p.V692I	Glomerulosclerosis, focal segmental, 2	34	1486	2	0	0	2	0.000672495	.	.	.	1294846	Focal_segmental_glomerulosclerosis_2|not_provided	MONDO:MONDO:0011390,MedGen:C1858915,OMIM:603965,Orphanet:656|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.630	0.133474019966	.	.	8.369e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs202219188	1.643e-05	1.642e-05	1.771e-05	1.514e-05	0.0003	1.111e-05	9.34e-06	6.103e-05	2.525e-05	0	2.237e-05	0	0	0	0.0003	1.08e-05	0.0001	1.16e-05	6.57e-06	6.563e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.06	0.48642	T	0.174	0.55759	T	0.998	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.165	0.60562	M	-4.95	0.98428	D	-0.85	0.23156	N	0.206	0.28616	1.080	0.98884	D	0.954	0.98497	D	10	0.3876319	0.54658	T	0.133474	0.81585	D	0.630	0.85769	.	.	0.977492206272	0.97724	0.40804741521401305	0.40720	1.73859626385	0.90843	0.616119027138	0.55180	T	0.719069	0.92046	D	0.255086	0.79075	D	0.192283	0.82699	D	0.436576891285069	0.30303	T	0.948005	0.79945	D	0.24799956	0.47782	0.21639661	0.46266	0.24799956	0.47782	0.21639661	0.46265	-6.552	0.52500	T	0.3716528052755218	0.46709	0.096	0.31253	B	.;.;.;.	.;.;.;.	4.626963	0.73532	26.0	0.99383260284892916	0.61979	0.98700	0.85746	D	AEFI	0.745408	0.68809	D	0.773085310559179	0.84399	8.276599	0.786976267870766	0.88871	9.748783	0.999999999968219	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	6.167000	0.71757	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.299	0.98594	817	0.41665	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	657.43	34	chr11	101472268	.	C	T	657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.822;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.349;SOR=0.804	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	9	0	1	0
chr11	101948072	101948072	C	G	exonic	CEP126	.	nonsynonymous SNV	CEP126:NM_020802:exon4:c.C436G:p.Q146E	.	430	1069	23	0	0	23	0.0106432	.	.	.	701522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.195	.	0.0008	0.00419329	0.0030	0.0005	0.0017	0.0003	0.0002	0.0019	0.0055	0.0122	0.002749	425	154602	rs142141239	0.0021	0.0021	0.0018	0.0024	0.0116	0.0020	0.0020	0.0110	0.0107	0.0002	0.0013	0.0012	7.585e-05	0.0005	0.0096	0.0015	0.0025	0.0116	0.0014	0.0014	0.0015	0.0013	0.0120	0.0013	0.0012	0.0095	0.0086	0.0004	0	0.0014	0.0020	0	0.0002	0.0034	0.0015	0.0019	0.0120	0.008	0.58626	D	0.0	0.92824	D	.	.	.	.	.	.	0.000007	0.62929	D	0.066085	0.929249	0.27100	N	.	.	.	2.68	0.12371	T	-2.31	0.51319	N	0.44	0.47857	-1.1075	0.03293	T	0.091	0.34710	T	10	0.007989496	0.00181	T	.	.	.	0.195	0.47612	.	.	0.508637063495	0.50502	0.19715428182912278	0.19632	0.55903840178	0.52464	0.398614287376	0.24875	T	.	.	.	-0.370491	0.03569	T	-0.294573	0.45296	T	0.0340959912636383	0.02653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14933	B	.	.	3.740163	0.53550	23.4	0.99368339192578992	0.61326	0.86869	0.46246	D	AEFI	0.167823	0.29453	N	0.675443646849055	0.78024	6.788801	0.646616358878334	0.78357	6.860392	0.0347394805635801	0.14168	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.4	5.4	0.77957	1.303000	0.33075	4.829000	0.45183	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1716:0.8284:0.0:0.0	12.085	0.52989	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.008152	0.011696	0.000000	0.017241	0.003049	0.000000	0.05	689.43	37	chr11	101948072	.	C	G	689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.19;ReadPosRankSum=-2.336;SOR=0.585	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1039	9	0	1	0
chr11	101962536	101962538	AAA	-	exonic	CEP126	.	nonframeshift deletion	CEP126:NM_020802:exon6:c.1501_1503del:p.K501del,CEP126:NM_001363543:exon7:c.904_906del:p.K302del	.	421	1085	16	0	0	16	0.0073193	.	.	.	2809793	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0050	0.00379393	0.0044	0.0019	0.0033	0	0.0008	0.0067	0.0011	0.0014	0.0011526	30	26028	rs529950842	0.0060	0.0060	0.0061	0.0059	0.0127	0.0059	0.0058	0.0103	0.0095	0.0011	0.0049	0.0005	0	0.0008	0.0127	0.0070	0.0067	0.0018	0.0054	0.0054	0.0056	0.0052	0.0084	0.0051	0.0050	0.0076	0.0073	0.0012	0.0537	0.0084	0.0006	0	0.0007	0.0272	0.0081	0.0100	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012085	0.020202	0.013587	0.000000	0.050000	0.008621	0.015244	0.003788	0.1	4401.1	33	chr11	101962535	.	TAAA	T	4401.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.85;DP=590;ExcessHet=0.2348;FS=1.516;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=0.594;SOR=0.787	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1045	8	0	2	0
chr11	102611773	102611773	T	G	exonic	MMP20	.	nonsynonymous SNV	MMP20:NM_004771:exon3:c.A505C:p.I169L	Amelogenesis imperfecta, type IIA2, Autosomal recessive	0	1484	35	3	0	41	0.0136258	.	.	.	324470	Amelogenesis_imperfecta_hypomaturation_type_2A2|not_provided	MONDO:MONDO:0012926,MedGen:C2675858,OMIM:612529,Orphanet:88661|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0066	0.0273562	0.0132	0.0103	0.0032	0.0905	0	0.0028	0.0121	0.0291	0.0124966	1932	154602	rs17099008	0.0075	0.0075	0.0069	0.0081	0.0832	0.0073	0.0073	0.0808	0.0798	0.0120	0.0028	0.0002	0.0832	0.0001	0.0078	0.0036	0.0082	0.0288	0.0095	0.0095	0.0089	0.0100	0.0821	0.0091	0.0089	0.0756	0.0731	0.0124	0.0373	0.0046	0.0003	0.0821	0.0003	0.0068	0.0035	0.0080	0.0284	0.003	0.68238	D	0.051	0.47828	T	0.003	0.11197	B	0.424	0.45210	B	0.000848	0.41440	D	0.267929	0.998964	0.45775	D	1.965	0.53209	M	1.51	0.30937	T	-1.85	0.43334	N	0.145	0.14622	-1.0405	0.17162	T	0.010	0.03673	T	10	0.0022335649	0.00032	T	.	.	.	0.101	0.28911	0.739	0.87147	.	.	0.7443420672079913	0.74380	0.0959658060652	0.10830	0.469243943691	0.34576	T	0.09987	0.40511	T	-0.570989	0.00218	T	-0.521782	0.20114	T	0.0378741418454267	0.03310	T	0.882612	0.60317	D	0.6179698	0.73655	0.4395777	0.67305	0.74831414	0.80771	0.4293998	0.66623	-6.117	0.47248	T	0.2241891874147531	0.30273	0.317	0.54265	B	.	.	3.215316	0.43783	21.8	0.99052178842528649	0.51275	0.70799	0.34741	D	AEFGBCI	0.293574	0.40416	N	-0.228406973005845	0.31971	1.798246	-0.173602641907642	0.32511	1.850358	0.996210304616188	0.34598	0.559995	0.30671	0	0.624146	0.53433	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.35	1.82	0.24209	1.731000	0.37758	3.423000	0.38265	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.2124:0.0:0.7876	9.067	0.35630	809	0.43032	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.005051	0.005435	0.000000	0.000000	0.000000	0.015244	0.022727	0.05	857.43	34	chr11	102611773	.	T	G	857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=374;ExcessHet=0;FS=3.367;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.245;SOR=0.356	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1064	9	0	1	0
chr11	102695089	102695089	C	A	exonic	MMP27	.	nonsynonymous SNV	MMP27:NM_022122:exon7:c.G911T:p.W304L	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	.	0.0061	0.00559105	0.0058	0.0019	0.0062	0	0.0036	0.0087	0.0022	0.0001	0.0060219	931	154602	rs35616217	0.0080	0.0081	0.0084	0.0077	0.0094	0.0079	0.0079	0.0092	0.0092	0.0019	0.0092	0.0091	2.521e-05	0.0035	0.0019	0.0094	0.0070	8.12e-05	0.0061	0.0062	0.0061	0.0062	0.0160	0.0058	0.0057	0.0144	0.0137	0.0015	0.0044	0.0160	0.0098	0	0.0041	0	0.0077	0.0109	0.0002	0.105	0.29823	T	0.063	0.45110	T	0.993	0.65571	D	0.894	0.63417	P	0.000018	0.62929	D	0.000000	0.999998	0.58761	D	2.335	0.66956	M	3.04	0.08810	T	-10.03	0.98848	D	0.853	0.84922	-1.1394	0.01380	T	0.043	0.18285	T	10	0.016364515	0.00345	T	.	.	.	0.309	0.63055	.	.	0.612470515539	0.60935	0.9075955049470651	0.90732	0.306118392961	0.32916	0.690705060959	0.65808	T	0.116956	0.43669	T	-0.181771	0.23472	T	-0.0228461	0.68841	D	0.0464622263873038	0.04868	T	0.768923	0.39853	T	0.618784	0.73698	0.57377476	0.75312	0.618784	0.73699	0.57377476	0.75312	-10.837	0.78756	D	.	.	0.467	0.63042	A	.	.	3.637883	0.51562	23.1	0.98572537323366582	0.43128	0.88897	0.49051	D	AEFBI	0.294917	0.40516	N	0.724478560553151	0.81237	7.475328	0.673077348772383	0.80341	7.277121	0.0046333904501672	0.10650	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.8	5.8	0.92081	4.264000	0.58657	5.956000	0.51737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.815000	0.38403	0.1444:0.8556:0.0:0.0	14.692	0.68702	712	0.56465	Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.020202	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	771.43	34	chr11	102695089	.	C	A	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.319;DP=386;ExcessHet=0;FS=3.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.851;SOR=1.214	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1036	9	0	1	0
chr11	102795503	102795503	C	T	exonic	MMP1	.	nonsynonymous SNV	MMP1:NM_001145938:exon5:c.G532A:p.G178S,MMP1:NM_002421:exon5:c.G730A:p.G244S	COPD, rate of decline of lung function in	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00617780001164	.	.	4.127e-05	0	0	0.0006	0	0	0	0	3.23e-05	5	154602	rs777202958	1.095e-05	1.094e-05	1.225e-05	9.626e-06	0.0002	6.48e-06	5.24e-06	9.929e-05	7.225e-05	0	0	0	0.0002	0	0	5.396e-06	1.656e-05	1.159e-05	2.627e-05	2.625e-05	3.854e-05	1.343e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.014	0.16862	B	0.011405	0.29543	N	0.288499	1	0.08975	N	-0.9	0.01342	N	2.01	0.21291	T	0.37	0.03639	N	0.088	0.06587	-1.0013	0.29545	T	0.023	0.09787	T	10	0.030106634	0.01137	T	0.006178	0.16200	T	0.100	0.28662	0.347	0.34274	0.370789594751	0.36692	0.45473484382669177	0.45391	0.0100870195922	0.00923	0.324572503567	0.14113	T	0.051984	0.29033	T	-0.425523	0.01578	T	-0.548687	0.17451	T	0.0559524454871642	0.06516	T	0.636336	0.25008	T	0.26766774	0.49839	0.2089193	0.45214	0.26766774	0.49839	0.2089193	0.45214	-2.802	0.08202	T	.	.	0.111	0.21466	B	.	.	1.412496	0.18282	13.65	0.74774682133338832	0.10822	0.08458	0.14384	N	AEFBCI	0.121146	0.23566	N	-0.632778677611511	0.17965	0.9289655	-0.445517605270007	0.23677	1.292415	0.990384175554114	0.32135	0.660085	0.49399	0	0.573888	0.26702	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.65	5.65	0.86881	2.224000	0.42587	1.799000	0.28866	0.599000	0.40250	0.011000	0.18532	0.061000	0.22037	0.838000	0.39538	0.0:0.8607:0.0:0.1393	11.428	0.49266	771	0.49057	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	885.43	47	chr11	102795503	.	C	T	885.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.276;DP=417;ExcessHet=0;FS=4.389;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.671;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1140	9	0	1	0
chr11	102796706	102796706	C	T	exonic	MMP1	.	nonsynonymous SNV	MMP1:NM_001145938:exon4:c.G385A:p.A129T,MMP1:NM_002421:exon4:c.G583A:p.A195T	COPD, rate of decline of lung function in	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00679801664548	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772239921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.302	0.20228	T	0.237	0.30795	B	0.214	0.37471	B	0.983282	0.07854	N	1.008340	0.981083	0.25065	N	1.605	0.40863	L	1.96	0.22270	T	-1.95	0.45222	N	0.202	0.22357	-0.9675	0.37713	T	0.051	0.21611	T	10	0.38903934	0.54755	T	0.006798	0.17982	T	0.050	0.13987	0.79	0.91217	0.185906805712	0.18197	0.657469892456208	0.65683	0.0116979458509	0.01102	0.244462221861	0.03207	T	0.150152	0.48950	T	-0.221621	0.17774	T	-0.556119	0.16743	T	0.376644313335419	0.28053	T	0.893211	0.63049	D	0.27871144	0.50924	0.1806183	0.40872	0.27871144	0.50924	0.1806183	0.40871	-3.667	0.18832	T	.	.	0.142	0.31304	B	.	.	1.521590	0.19533	14.31	0.9867584981578843	0.44539	0.36504	0.25548	N	AEFBCI	0.119568	0.23331	N	-0.519741797903656	0.21442	1.137964	-0.517068143197429	0.21689	1.174523	0.987149162872413	0.31193	0.660085	0.49399	0	0.573888	0.26702	0	0.573888	0.23631	0	0.651492	0.60203	0	.	.	5.87	1.93	0.24985	1.255000	0.32512	-1.885000	0.04553	0.599000	0.40250	0.189000	0.24175	0.000000	0.08366	0.815000	0.38403	0.0:0.6651:0.0:0.3349	9.217	0.36517	771	0.49057	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1025.43	35	chr11	102796706	.	C	T	1025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.909;DP=424;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.341;SOR=0.598	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr11	102866318	102866318	-	A	exonic	MMP12	.	stopgain	MMP12:NM_002426:exon7:c.1041dupT:p.K348*	.	438	1083	0	1	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0	0	0.0013	9.06e-05	14	154602	rs781869098	7.172e-05	7.319e-05	3.481e-05	0.0001	0.0012	6.009e-05	5.609e-05	0.0010	0.0009	0	0	0	0	0	0	9.156e-07	0.0001	0.0012	2.626e-05	2.624e-05	2.569e-05	2.685e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	2.405e-05	0	0	0	0	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	368.39	31	chr11	102866318	.	T	TA	368.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.316;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,887	9	0	1	0
chr11	102871809	102871809	C	T	exonic	MMP12	.	nonsynonymous SNV	MMP12:NM_002426:exon3:c.G494A:p.R165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00119808	0.0004	0.0040	0.0002	0	0	0	0	0.0001	0.0003105	48	154602	rs61730845	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0031	0.0039	0.0004	0	0	0	0	1.71e-05	0.0003	0.0002	0.0011	0.0011	0.0012	0.0010	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0004	0	0	0	0	2.94e-05	0.0005	0	.	.	.	0.518	0.10536	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	.	.	.	.	.	.	0.55	0.54728	T	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.0066146255	0.00150	T	.	.	.	.	.	.	.	0.500994481783	0.49735	0.5039522868909695	0.50317	.	.	0.201184004545	0.00492	T	0.100561	0.40647	T	-0.488127	0.00666	T	-0.474457	0.25037	T	.	.	.	0.744226	0.36418	T	0.10593887	0.25049	0.11957267	0.28860	0.10593887	0.25049	0.11957267	0.28859	-6.126	0.47322	T	.	.	0.089	0.12037	B	.	.	-0.775123	0.01156	0.055	0.36164242022524651	0.02311	0.04719	0.10413	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.896948939006969	0.25990	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0554835	0.12919	5.31	-10.6	0.00212	-0.989000	0.03846	-3.145000	0.03023	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1483:0.3609:0.2987:0.192	2.873	0.05276	732	0.54084	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1751.43	33	chr11	102871809	.	C	T	1751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=479;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.671;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	9	0	1	0
chr11	103156671	103156671	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon26:c.A4028G:p.N1343S,DYNC2H1:NM_001377:exon26:c.A4028G:p.N1343S	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	0.0345652728021	.	.	.	.	.	.	.	.	.	.	.	.	.	rs974086834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.041	0.50514	D	0.938	0.61118	P	0.852	0.63213	P	0.109041	0.19502	N	0.401019	1	0.81001	D	1.585	0.39878	L	0.16	0.60610	T	-3.4	0.67014	D	0.817	0.81261	-0.6811	0.61321	T	0.287	0.65851	T	10	0.61851215	0.67843	D	0.034565	0.55763	D	0.266	0.57999	0.434	0.48500	0.751660190969	0.74941	0.5270089370984039	0.52624	0.25954781884	0.28511	0.730854272842	0.71631	T	0.571176	0.85803	D	-0.0700114	0.41325	T	-0.338343	0.40531	T	0.952138721942902	0.63721	D	0.944206	0.78893	D	0.3602871	0.57858	0.5019631	0.71209	0.3602871	0.57858	0.5019631	0.71210	-10.283	0.75589	D	0.5285119171156634	0.59972	0.083	0.10691	B	.;.;.;.	.;.;.;.	4.108833	0.61322	24.3	0.99890615051367615	0.96513	0.98952	0.89087	D	AEBI	0.900850	0.84686	D	0.60675142977447	0.73599	5.992854	0.629098958789322	0.77061	6.607719	0.999999232499678	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.27	5.27	0.73797	9.062000	0.93350	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.191	0.72727	512	0.75040	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	37.05	34	chr11	103156671	.	A	G	37.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.381;DP=423;ExcessHet=0;FS=42.466;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=2.46;SOR=5.419	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,959	8	0	1	1
chr11	103211829	103211829	A	T	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon54:c.A8580T:p.E2860D,DYNC2H1:NM_001377:exon54:c.A8580T:p.E2860D	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	61	1238	176	46	1	269	0.0976676	.	.	.	2027200	Jeune_thoracic_dystrophy	MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.224	0.0553149258153	.	0.000798722	0.0008	0	0	0	0	0	0	0.0023	0.0001617	25	154602	rs17394217	8.159e-05	0.0001	5.229e-05	0.0001	0.0013	6.858e-05	6.408e-05	0.0011	0.0010	0	0	0	0.0002	0	0.0002	1.965e-05	0.0001	0.0013	7.888e-05	7.875e-05	3.858e-05	0.0001	0.0023	4.498e-05	3.514e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.472e-05	0	0.0023	0.197	0.20683	T	0.313	0.19539	T	0.157	0.32870	B	0.166	0.35067	B	0.000003	0.62929	U	0.000000	6.55333e-05	0.81001	P	1.885	0.50048	L	1.38	0.34050	T	-1.77	0.41809	N	0.196	0.21580	-0.8964	0.48351	T	0.098	0.36780	T	9	0.056473076	0.06337	T	0.055315	0.66188	D	0.224	0.52174	0.493	0.58048	0.347879110917	0.34393	0.23982227598678896	0.23896	0.0595718282096	0.06622	0.632051825523	0.57436	T	0.140866	0.47562	T	-0.436232	0.01361	T	-0.406178	0.32667	T	0.0722843784085533	0.08968	T	0.756924	0.38041	T	0.17550918	0.38413	0.20267281	0.44308	0.17550918	0.38413	0.20267281	0.44307	-4.918	0.36786	T	0.36991791551332026	0.46554	0.126	0.26607	B	.;.;.;.	.;.;.;.	0.944595	0.13202	9.705	0.92453356631501604	0.21878	0.82333	0.41576	D	AEFI	0.261244	0.37924	N	-0.518340010339209	0.21487	1.140672	-0.518418958130467	0.21654	1.17238	2.95063232548294E-5	0.03498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.76	-3.22	0.04808	-0.242000	0.08945	.	.	-0.137000	0.12594	0.491000	0.26886	0.389000	0.24654	0.996000	0.76049	0.592:0.0:0.408:0.0	13.554	0.61213	591	0.68823	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	265.43	36	chr11	103211829	.	A	T	265.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.365;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=2.16;SOR=0.838	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,871	9	0	1	0
chr11	103358271	103358271	G	A	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001377:exon83:c.G12068A:p.R4023K,DYNC2H1:NM_001080463:exon84:c.G12089A:p.R4030K	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	799634	not_specified|Inborn_genetic_diseases|Jeune_thoracic_dystrophy	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0272656831164	.	.	0.0002	0.0011	0.0011	0	0	5.258e-05	0	0	8.41e-05	13	154602	rs771264933	4.807e-05	5.678e-05	4.835e-05	4.778e-05	0.0004	3.863e-05	3.54e-05	0.0002	0.0002	0.0004	0.0004	0.0009	0	0	0.0003	1.002e-05	8.416e-05	0	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0003	0.0006	0	0	0	0	0	0	0.395	0.29029	T	0.606	0.92824	T	0.0	0.02946	B	0.005	0.11217	B	0.000002	0.62929	D	0.000000	1	0.81001	D	2.135	0.59519	M	3.16	0.48769	T	-1.38	0.50666	N	0.25	0.28264	-0.8870	0.49189	T	0.139	0.45678	T	10	0.09110901	0.15931	T	0.027266	0.50098	D	0.178	0.44724	.	.	0.639407458861	0.63643	0.4883942403694956	0.48759	0.0628276050667	0.06995	0.564874649048	0.47954	T	0.048919	0.28156	T	-0.235924	0.15873	T	-0.194697	0.55149	T	0.0810355440661545	0.10119	T	0.713829	0.32570	T	0.3473256	0.56858	0.32049865	0.58004	0.3473256	0.56859	0.32049865	0.58003	-2.876	0.08906	T	0.6347491924356496	0.70461	0.119	0.25527	B	.;.;.;.;.	.;.;.;.;.	3.574991	0.50375	22.9	0.94119386401252869	0.24296	0.97503	0.75172	D	AEFI	0.856308	0.77353	D	0.00157685030086278	0.41927	2.516725	0.182073601179569	0.48866	3.096823	0.999999927590384	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.44	5.44	0.79348	7.695000	0.83490	.	.	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.448000	0.27851	0.0:0.0:1.0:0.0	18.029	0.89202	698	0.58074	Dynein heavy chain domain;Dynein heavy chain domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	587.43	35	chr11	103358271	.	G	A	587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.56;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-1.015;SOR=0.688	GT:AD:DP:GQ:PL	0/1:30,25:55:99:599,0,768	9	0	1	0
chr11	104995788	104995788	G	A	exonic	CASP5	.	stopgain	CASP5:NM_001136110:exon7:c.C835T:p.R279X,CASP5:NM_001136109:exon8:c.C1087T:p.R363X,CASP5:NM_001136112:exon9:c.C1300T:p.R434X,CASP5:NM_004347:exon9:c.C1261T:p.R421X	.	426	1084	12	0	0	12	0.00550459	.	.	.	3189216	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0012	0.000798722	0.0011	0.0002	0.0021	0.0001	0.0003	0.0015	0.0011	0.0004	0.0010737	166	154602	rs141361242	0.0013	0.0014	0.0014	0.0013	0.0108	0.0013	0.0013	0.0086	0.0078	0.0004	0.0020	0.0010	0	0.0002	0.0108	0.0014	0.0017	0.0006	0.0010	0.0010	0.0011	0.0010	0.0018	0.0009	0.0009	0.0013	0.0012	0.0004	0	0.0018	0.0009	0	0	0.0034	0.0015	0.0024	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.831	0.82660	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048138	0.58103	T	0.277356	0.86981	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.;Tolerant;.	.;High;.;.;High;.	5.801280	0.93615	33	0.87430948088497806	0.17222	0.03704	0.08984	N	AEFBCI	0.092583	0.18742	N	-0.214538626783681	0.32537	1.835995	-0.612800542296203	0.19165	1.027015	0.927746609017521	0.26900	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.85	-0.229	0.12449	-0.115000	0.10713	-13.536000	0.00453	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.035000	0.13729	0.0:0.1804:0.3196:0.5001	5.002	0.13615	894	0.26265	.;.;Peptidase C14, caspase non-catalytic subunit p10|Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.010101	0.002717	0.023392	0.000000	0.000000	0.006135	0.003788	0.05	702.43	39	chr11	104995788	.	G	A	702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=457;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.5;ReadPosRankSum=0.758;SOR=0.908	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1443	9	0	1	0
chr11	105029196	105029196	C	A	exonic	CASP1	.	stopgain	CASP1:NM_001223:exon6:c.G871T:p.E291X,CASP1:NM_001257119:exon6:c.G871T:p.E291X,CASP1:NM_033293:exon6:c.G655T:p.E219X,CASP1:NM_001257118:exon7:c.G934T:p.E312X,CASP1:NM_033292:exon7:c.G934T:p.E312X	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.978781	0.07826	N	1.010960	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.677	0.69300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.363346	0.87509	D	0.284145	0.87348	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;Recessive;.;.	.;.;.;High;High;.;.	6.701214	0.95613	35	0.98009149533539897	0.37544	0.11042	0.16368	N	AEFBI	0.091804	0.18592	N	0.044073012605337	0.43871	2.671612	-0.331695705589458	0.27082	1.500259	0.999909120437346	0.45458	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.12	2.2	0.26966	0.475000	0.21874	2.023000	0.30218	0.599000	0.40250	0.000000	0.06391	0.007000	0.19602	0.025000	0.12405	0.0:0.8808:0.0:0.1192	8.661	0.33255	886	0.28090	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2234.43	37	chr11	105029196	.	C	A	2234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=411;ExcessHet=0;FS=1.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=-0.219;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1140:.	9	0	1	0
chr11	105029198	105029198	T	C	exonic	CASP1	.	nonsynonymous SNV	CASP1:NM_001223:exon6:c.A869G:p.E290G,CASP1:NM_001257119:exon6:c.A869G:p.E290G,CASP1:NM_033293:exon6:c.A653G:p.E218G,CASP1:NM_001257118:exon7:c.A932G:p.E311G,CASP1:NM_033292:exon7:c.A932G:p.E311G	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00456950151365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232312628	3.422e-06	3.42e-06	4.086e-06	2.752e-06	0.0001	1e-06	7.3e-07	4.366e-05	2.772e-05	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.33091	T	0.203	0.27325	T	0.005	0.23521	B	0.013	0.32738	B	0.018033	0.01478	N	2.317120	1	0.08975	N	2.225	0.63025	M	1.98	0.21865	T	-2.86	0.68880	D	0.198	0.26233	-1.0080	0.27541	T	0.072	0.29259	T	10	0.13227686	0.25177	T	0.00457	0.11283	T	0.061	0.17616	0.448	0.50793	0.605179040742	0.60201	0.3803722905524121	0.37952	0.204107414628	0.22826	0.266118407249	0.05641	T	0.026401	0.54333	T	-0.40889	0.02022	T	-0.627475	0.10607	T	0.459214091300964	0.31136	T	0.441056	0.13490	T	0.36800274	0.58436	0.2445813	0.49928	0.36800274	0.58437	0.2445813	0.49927	-3.909	0.22438	T	.	.	0.085	0.10062	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.303070	0.17054	12.93	0.96153668457250629	0.28875	0.08574	0.14484	N	AEFBI	0.164404	0.29079	N	-0.789841912801837	0.13574	0.6696877	-0.872060898355572	0.12758	0.6581223	0.999874607266967	0.44625	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	3.69	2.45	0.28953	0.488000	0.22080	0.691000	0.20763	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2597:0.0:0.0:0.7403	7.310	0.25643	886	0.28090	Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain;.;Peptidase C14A, caspase catalytic domain|Peptidase C14A, caspase catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2234.43	37	chr11	105029198	.	T	C	2234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.389;DP=414;ExcessHet=0;FS=1.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.08;ReadPosRankSum=-0.292;SOR=0.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1140:.	9	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4213.63	178	chr11	106010659	.	C	G	4213.63	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:95,0:95:0:.:.:0,0,1037:.	6	0	2	2
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	4213.63	178	chr11	106010659	.	C	T	4213.63	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:95,0:95:0:.:.:0,0,1037:.	3	0	5	2
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:95,0:95:0:.:.:0,0,1037:.	0	0	7	3
chr11	106010663	106010663	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255A:p.M85I,MSANTD4:NM_001318748:exon2:c.G255A:p.M85I,MSANTD4:NM_001318749:exon2:c.G255A:p.M85I,MSANTD4:NM_001318750:exon2:c.G255A:p.M85I,MSANTD4:NM_032424:exon2:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00279040284091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.902327	0.36202	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9843	0.33998	T	0.104	0.38218	T	9	0.1143381	0.21509	T	0.00279	0.05810	T	0.047	0.12962	0.294	0.25720	0.256793551483	0.25290	0.12417175146048018	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923724	0.37684	T	-0.370463	0.36834	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.089872	0.41597	21.4	0.98105666193469465	0.38310	0.97626	0.75993	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	3027.84	181	chr11	106010663	.	C	T	3027.84	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.348;DP=1258;ExcessHet=0.7463;FS=299.408;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=4.3;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:95,0:95:0:.:.:0,0,965:.	4	0	2	4
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	3027.84	181	chr11	106010663	.	C	G	3027.84	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.348;DP=1258;ExcessHet=0.7463;FS=299.408;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=5.94;ReadPosRankSum=4.3;SOR=9.869	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:95,0:95:0:.:.:0,0,965:.	5	0	1	4
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3320.06	203	chr11	106010664	.	A	G	3320.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.661;DP=1255;ExcessHet=0.7463;FS=319.866;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=4.37;SOR=10.163	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:95,0:95:0:.:.:0,0,965:.	3	0	3	4
chr11	106010666	106010666	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G252C:p.R84S,MSANTD4:NM_001318748:exon2:c.G252C:p.R84S,MSANTD4:NM_001318749:exon2:c.G252C:p.R84S,MSANTD4:NM_001318750:exon2:c.G252C:p.R84S,MSANTD4:NM_032424:exon2:c.G252C:p.R84S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00263902560473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.940449	0.37297	D	0	0.06538	N	.	.	.	-0.92	0.30346	N	0.251	0.28381	-1.0080	0.27541	T	0.094	0.35738	T	9	0.1405603	0.26716	T	0.002639	0.05377	T	0.091	0.26358	0.372	0.38340	0.242244723065	0.23846	0.4756825840453807	0.47487	0.36371238007	0.37996	0.486390650272	0.36939	T	0.038357	0.24810	T	-0.044157	0.45330	T	-0.301205	0.44598	T	0.151699825485391	0.17238	T	0.768023	0.39669	T	0.17611994	0.38507	0.08817525	0.20542	0.17611994	0.38507	0.08817525	0.20542	-1.715	0.02269	T	.	.	0.270	0.51532	B	.;.;.	.;.;.	2.446286	0.31491	18.76	0.97835174456350893	0.36285	0.94199	0.60414	D	AEFGBI	0.377723	0.46139	N	-0.305756252056347	0.28928	1.599811	-0.153352819634721	0.33280	1.902022	0.954896934348277	0.28157	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	2.85	0.32333	0.527000	0.22695	0.199000	0.15831	0.599000	0.40250	0.998000	0.41325	0.973000	0.29867	0.998000	0.85391	0.1462:0.4856:0.1263:0.2419	1.994	0.03243	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1353.64	125	chr11	106010666	.	C	G	1353.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.306;DP=1067;ExcessHet=0;FS=282.975;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=4.84;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:92,0:92:0:.:.:0,0,969:.	3	0	1	6
chr11	106010667	106010667	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251C:p.R84T,MSANTD4:NM_001318748:exon2:c.G251C:p.R84T,MSANTD4:NM_001318749:exon2:c.G251C:p.R84T,MSANTD4:NM_001318750:exon2:c.G251C:p.R84T,MSANTD4:NM_032424:exon2:c.G251C:p.R84T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0045302189412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.142	0.33330	T	0.006	0.13644	B	0.028	0.21332	B	0.002354	0.36727	N	0.299972	0.972449	0.38947	D	0.69	0.16971	N	.	.	.	-0.93	0.25118	N	0.472	0.50778	-0.8196	0.53959	T	0.172	0.51421	T	9	0.21586516	0.38151	T	0.00453	0.11157	T	0.261	0.57352	0.4	0.42917	0.368183359018	0.36430	0.4395240752523136	0.43869	0.554340016678	0.52180	0.520652651787	0.41718	T	0.041089	0.25741	T	0.0192097	0.54274	T	-0.210183	0.53679	T	0.5633824467659	0.34983	D	0.816918	0.47330	T	0.12641793	0.29610	0.08971571	0.20995	0.12641793	0.29609	0.08971571	0.20995	-2.359	0.04888	T	.	.	0.161	0.35643	B	.;.;.	.;.;.	3.378534	0.46720	22.3	0.92203589481258563	0.21574	0.98334	0.81734	D	AEFGBI	0.506459	0.53717	D	-0.108043926882725	0.37041	2.14946	0.0663629535781314	0.42871	2.600689	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	1353.64	125	chr11	106010667	.	C	G	1353.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.027;DP=1067;ExcessHet=0;FS=282.975;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=8.2;ReadPosRankSum=4.95;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:92,0:92:0:.:.:0,0,969:.	3	0	1	6
chr11	108161220	108161220	G	A	exonic	NPAT	.	nonsynonymous SNV	NPAT:NM_001321307:exon17:c.C3887T:p.A1296V,NPAT:NM_002519:exon17:c.C3866T:p.A1289V	.	420	1098	4	0	0	4	0.00181818	.	.	.	1914734	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.097	0.00475113723496	.	.	4.971e-05	0	0	0	0	5.996e-05	0.0011	6.056e-05	3.88e-05	6	154602	rs754396326	2.941e-05	2.941e-05	2.178e-05	3.713e-05	0.0010	2.216e-05	1.97e-05	0.0005	0.0003	0	2.236e-05	0	0	0	0.0010	1.889e-05	8.279e-05	0.0001	2.629e-05	2.627e-05	1.285e-05	4.036e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.643	0.04957	T	0.301	0.20293	T	0.001	0.07471	B	0.006	0.12133	B	0.158592	0.17735	N	0.540404	0.971539	0.25648	N	0.93	0.23535	L	3.69	0.04114	T	-0.46	0.14978	N	0.047	0.01911	-0.9937	0.31643	T	0.034	0.14813	T	10	0.02733314	0.00881	T	0.004751	0.11847	T	0.114	0.32008	0.062	0.00241	0.287603790349	0.28378	0.08407830727986733	0.08341	0.0492381322711	0.05384	0.230336621404	0.01993	T	0.02811	0.20438	T	-0.384306	0.02926	T	-0.553137	0.17025	T	0.0914121344685555	0.11385	T	0.69743	0.30707	T	0.0146883475	0.00103	0.03132783	0.01706	0.0146883475	0.00103	0.03132783	0.01705	-2.922	0.09365	T	.	.	0.078	0.06803	B	.	.	2.141301	0.27267	17.40	0.74239615587302288	0.10622	0.91944	0.54602	D	AEFDGBHCI	0.160144	0.28603	N	-0.435830788347625	0.24223	1.306434	-0.366788569630323	0.25995	1.433024	0.999970994909255	0.50053	0.730579	0.87903	0	0.749866	0.99406	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	-1.35	0.08638	4.646000	0.61108	3.188000	0.36689	-0.135000	0.12811	1.000000	0.71638	0.805000	0.26985	0.858000	0.40661	0.259:0.0:0.741:0.0	10.859	0.46022	115	0.95340	Protein NPAT, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	680.43	34	chr11	108161220	.	G	A	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.523;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.682;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	9	0	1	0
chr11	108251973	108251973	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon11:c.T1744C:p.F582L,ATM:NM_001351834:exon12:c.T1744C:p.F582L	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1484	37	0	0	37	0.0123128	.	.	YES	132799	Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia_syndrome|not_specified|Malignant_tumor_of_breast|Breast_and/or_ovarian_cancer	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN221562	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.272	0.00632949868566	0.0006	0.00259585	0.0010	0.0003	0.0014	0	0	0.0010	0.0033	0.0018	0.0010673	165	154602	rs2235006	0.0008	0.0008	0.0007	0.0009	0.0229	0.0008	0.0008	0.0197	0.0185	0.0008	0.0016	0.0007	0	0	0.0229	0.0006	0.0017	0.0019	0.0008	0.0008	0.0007	0.0009	0.0018	0.0007	0.0006	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0	0.0102	0.0010	0.0038	0.0014	1.0	0.00964	T	0.221	0.25827	T	0.0	0.02946	B	0.001	0.04355	B	0.013257	0.28902	N	0.409630	0.999837	0.20152	N	0.69	0.16971	N	0.55	0.54728	T	-0.37	0.16393	N	0.079	0.21580	-1.0270	0.21429	T	0.068	0.27777	T	10	0.0050537884	0.00109	T	0.006329	0.16639	T	0.272	0.58758	0.737	0.86978	0.819883778855	0.81818	0.15030838992287476	0.14952	0.144979564381	0.16386	0.368464320898	0.20611	T	0.073865	0.34800	T	-0.352246	0.04587	T	-0.291983	0.45566	T	0.000667495086760846	0.00006	T	0.610839	0.23175	T	0.08629755	0.20053	0.10082258	0.24117	0.07361293	0.16461	0.0899903	0.21076	-2.303	0.04571	T	0.21292882189483592	0.28582	0.451	0.62236	A	.;.;.	.;.;.	0.752413	0.11221	7.853	0.55554340149940129	0.05366	0.26494	0.23009	N	AEFBI	0.038653	0.05500	N	-0.730072476973633	0.15181	0.7627831	-0.627980968104417	0.18775	1.004481	0.717382268493451	0.22891	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.03	1.13	0.19758	0.131000	0.15696	-0.914000	0.06944	-0.123000	0.13640	0.351000	0.25767	0.000000	0.08366	0.858000	0.40661	0.0:0.2561:0.0:0.7439	9.764	0.39715	126	0.94940	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.016616	0.000000	0.014946	0.052632	0.000000	0.017241	0.000000	0.011364	0.1	2068.14	111	chr11	108251973	.	T	C	2068.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.756;DP=479;ExcessHet=0.2348;FS=1.759;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.309;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1236	8	0	2	0
chr11	108304736	108304736	A	T	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon37:c.A5558T:p.D1853V,ATM:NM_001351834:exon38:c.A5558T:p.D1853V	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	1	1498	21	2	0	25	0.00827541	.	.	YES	137362	Hereditary_breast_ovarian_cancer_syndrome|not_specified|Familial_cancer_of_breast|Ataxia-telangiectasia_syndrome|Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.421415473121	0.0048	0.00179712	0.0052	0.0012	0.0024	0	0.0026	0.0069	0.0055	0.0064	0.004987	771	154602	rs1801673	0.0049	0.0049	0.0048	0.0049	0.0058	0.0048	0.0048	0.0054	0.0052	0.0005	0.0032	0.0071	5.041e-05	0.0036	0.0038	0.0052	0.0050	0.0058	0.0044	0.0044	0.0046	0.0042	0.0073	0.0041	0.0040	0.0068	0.0066	0.0008	0.0077	0.0029	0.0072	0.0002	0.0029	0	0.0073	0.0024	0.0050	0.006	0.61437	D	0.007	0.69154	D	0.881	0.48446	P	0.423	0.45170	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.51	0.73131	M	-0.75	0.73311	T	-4.52	0.78302	D	0.666	0.78832	-0.1943	0.77818	T	0.330	0.69800	T	10	0.016077608	0.00338	T	0.421415	0.93800	D	0.589	0.83582	.	.	0.862668985381	0.86133	0.5754807337306314	0.57477	0.230346816679	0.25583	0.484472572803	0.36672	T	0.26251	0.63409	T	0.0244139	0.54975	T	0.267279	0.86437	D	0.032220271790473	0.02342	T	0.90061	0.65471	D	0.6116418	0.73316	0.329566	0.58835	0.6022599	0.72813	0.26657072	0.52504	-7.74	0.59285	D	0.4752428700619266	0.55493	0.417	0.60512	A	.;.	.;.	4.271423	0.64994	24.8	0.99282703511633685	0.57973	0.97398	0.74496	D	AEFGBI	0.662245	0.63218	D	0.535458318470551	0.69203	5.323629	0.570547549243884	0.72837	5.873341	0.999923395911117	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.52	5.52	0.82153	5.468000	0.66473	7.973000	0.76046	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	15.936	0.79492	145	0.94217	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1249.43	40	chr11	108304736	.	A	T	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.331;DP=417;ExcessHet=0;FS=4.096;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.548;SOR=0.461	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1025	9	0	1	0
chr11	108512523	108512523	G	A	exonic	EXPH5	.	nonsynonymous SNV	EXPH5:NM_001144765:exon3:c.C2420T:p.P807L,EXPH5:NM_001144764:exon4:c.C2516T:p.P839L,EXPH5:NM_001144763:exon6:c.C2756T:p.P919L,EXPH5:NM_015065:exon6:c.C2984T:p.P995L,EXPH5:NM_001308019:exon7:c.C2963T:p.P988L	Epidermolysis bullosa, nonspecific, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1459966	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0161908338979	.	.	.	.	.	.	.	.	.	.	.	.	.	rs900955478	6.844e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.573e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.68238	D	0.029	0.58613	D	.	.	.	.	.	.	0.197782	0.16679	N	0.584255	0.999999	0.08975	N	.	.	.	4.28	0.04151	T	-4.62	0.90023	D	0.083	0.05929	-1.0248	0.22148	T	0.017	0.06855	T	10	0.15851843	0.29807	T	0.016191	0.37323	T	0.059	0.16972	0.318	0.29581	0.293147016451	0.28931	0.1413023537204226	0.14053	0.201659407777	0.22570	0.248876973987	0.03650	T	0.132741	0.46300	T	-0.239122	0.15461	T	-0.581258	0.14432	T	0.720004200935364	0.41699	D	0.816718	0.47282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.30971	B	.;.;.;.	.;.;.;.	1.436046	0.18546	13.80	0.99464872857475095	0.65996	0.09954	0.15590	N	AEFBI	0.091130	0.18461	N	-0.513019140841017	0.21659	1.151038	-0.534903245862264	0.21208	1.146182	0.996500484506433	0.34791	0.554377	0.28877	0	0.588066	0.40923	0	0.54472	0.12158	0	0.542086	0.14980	0	.	.	6.02	4.01	0.45821	1.165000	0.31432	1.669000	0.27944	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.017000	0.10941	0.092:0.0:0.6567:0.2513	6.433	0.21011	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2142.43	35	chr11	108512523	.	G	A	2142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=620;ExcessHet=0;FS=5.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.811;SOR=0.942	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1124	9	0	1	0
chr11	108665284	108665284	C	G	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon1:c.C131G:p.P44R	.	.	.	.	.	.	.	.	.	.	.	701552	DDX10-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.112	0.152899151302	0.0014	0.000599042	0.0020	0.0006	0.0011	0	0.0017	0.0032	0.0011	6.193e-05	0.0019922	308	154602	rs149622934	0.0025	0.0025	0.0026	0.0025	0.0027	0.0025	0.0024	0.0026	0.0026	0.0005	0.0010	0.0147	0	0.0016	0.0003	0.0027	0.0028	0.0001	0.0020	0.0020	0.0022	0.0019	0.0029	0.0019	0.0018	0.0025	0.0024	0.0006	0	0.0010	0.0182	0.0002	0.0009	0	0.0029	0.0009	0	0.076	0.37326	T	0.235	0.26306	T	0.998	0.73220	D	0.902	0.64047	P	0.000059	0.53742	D	0.202806	0.999817	0.49394	D	2.17	0.60663	M	1.14	0.38556	T	-2.11	0.48020	N	0.551	0.61764	-0.9770	0.35683	T	0.155	0.48550	T	10	0.007487476	0.00170	T	0.152899	0.83425	D	0.112	0.31546	.	.	0.633018970913	0.63001	0.5282833499407419	0.52752	0.394364968837	0.40593	0.645140051842	0.59295	T	0.011103	0.09952	T	-0.321875	0.06746	T	-0.235409	0.51246	T	0.0461818260257115	0.04817	T	0.849215	0.53152	T	0.2877102	0.51779	0.32508358	0.58426	0.2877102	0.51779	0.32508358	0.58426	-11.773	0.83727	D	.	.	0.194	0.46049	B	.;.	.;.	4.617019	0.73272	26.0	0.99672887424008916	0.78717	0.72724	0.35587	D	ALL	0.432954	0.49462	N	0.352017927762803	0.58845	4.059452	0.356677706135384	0.58911	4.06476	0.999999999999752	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.34	4.43	0.52967	4.387000	0.59391	7.357000	0.58325	0.462000	0.21616	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9188:0.0:0.0812	12.079	0.52956	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	688.43	41	chr11	108665284	.	C	G	688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.795;DP=402;ExcessHet=0;FS=1.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-0.582;SOR=0.994	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1170	9	0	1	0
chr11	108715890	108715890	A	G	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon11:c.A1334G:p.E445G	.	534	986	2	0	0	2	0.00101317	.	.	.	215421	not_specified|not_provided|DDX10-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.222	0.0136446042008	0.0043	0.00199681	0.0060	0.0014	0.0013	0.0003	0.0079	0.0097	0.0028	0.0026	0.0048576	751	154602	rs116953461	0.0063	0.0067	0.0065	0.0060	0.0073	0.0061	0.0061	0.0071	0.0071	0.0007	0.0009	0.0022	2.557e-05	0.0071	0.0006	0.0073	0.0067	0.0022	0.0046	0.0046	0.0047	0.0045	0.0077	0.0043	0.0042	0.0071	0.0069	0.0015	0	0.0016	0.0012	0	0.0070	0	0.0077	0.0033	0.0021	0.09	0.33254	T	0.135	0.34124	T	0.893	0.49136	P	0.519	0.48163	P	0.000000	0.84330	D	0.046608	1	0.81001	D	1.075	0.27130	L	0.84	0.47815	T	-2.94	0.61435	D	0.58	0.60156	-0.9914	0.32244	T	0.085	0.33128	T	10	0.009814739	0.00220	T	0.013645	0.33196	T	0.222	0.51872	.	.	0.697842544054	0.69523	0.5360272708346319	0.53527	0.396460530171	0.40758	0.546004831791	0.45294	T	0.17071	0.51855	T	-0.254464	0.13557	T	-0.130334	0.60943	T	0.0195243030619192	0.00656	T	0.860314	0.56163	D	0.24206862	0.47130	0.31917617	0.57880	0.24206862	0.47130	0.31917617	0.57880	-9.565	0.71263	D	.	.	0.116	0.23675	B	.;.	.;.	4.675633	0.74771	26.2	0.9984509261642095	0.92489	0.98927	0.88737	D	AEFGBI	0.644628	0.62082	D	0.422597093967227	0.62666	4.486403	0.539148629236526	0.70646	5.53586	0.999995621760092	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	6.424000	0.73282	11.021000	0.84957	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	16.245	0.82265	697	0.58201	Helicase, C-terminal;Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	189.43	33	chr11	108715890	.	A	G	189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.692;DP=348;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=1.96;SOR=0.293	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,930	9	0	1	0
chr11	110579560	110579560	A	G	exonic	ARHGAP20	.	nonsynonymous SNV	ARHGAP20:NM_001258415:exon15:c.T3317C:p.V1106A,ARHGAP20:NM_001258417:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001258418:exon15:c.T3278C:p.V1093A,ARHGAP20:NM_001384657:exon15:c.T3386C:p.V1129A,ARHGAP20:NM_001258416:exon16:c.T3308C:p.V1103A,ARHGAP20:NM_020809:exon16:c.T3386C:p.V1129A	.	.	.	.	.	.	.	.	.	.	.	4042600	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.0039910432544	.	.	4.944e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs775605659	2.668e-05	2.668e-05	1.634e-05	3.714e-05	0.0005	1.998e-05	1.754e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.459	0.10311	T	0.322	0.20037	T	0.001	0.09854	B	0.002	0.10090	B	0.714168	0.06275	N	1.156790	1	0.08975	N	1.845	0.48678	L	2.7	0.12268	T	-0.49	0.15578	N	0.039	0.02759	-0.9464	0.41582	T	0.016	0.06521	T	10	0.02541697	0.00737	T	0.003991	0.09462	T	0.036	0.09122	0.103	0.01643	0.117506650769	0.11410	0.1868770552063971	0.18605	0.129938835031	0.14657	0.283747285604	0.08021	T	0.02956	0.21156	T	-0.646469	0.00076	T	-0.816953	0.01515	T	0.0249811481058522	0.01270	T	0.505449	0.15971	T	0.03233241	0.03238	0.035887375	0.02927	0.03233241	0.03238	0.035887375	0.02927	-2.719	0.07464	T	.	.	0.075	0.26200	B	.;.;.;.;.;.	.;.;.;.;.;.	0.751715	0.11215	7.847	0.9522706550420581	0.26453	0.03520	0.08703	N	AEFBI	0.091896	0.18609	N	-1.18909962203163	0.05164	0.2347706	-1.21597358187187	0.05653	0.2699297	0.017080988799986	0.12909	0.553676	0.25195	0	0.563428	0.19063	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.91	-6.42	0.01760	-0.609000	0.05731	0.118000	0.14877	-0.057000	0.16691	0.000000	0.06391	0.000000	0.08366	0.824000	0.38829	0.2731:0.3156:0.3005:0.1107	2.306	0.03918	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	36	chr11	110579560	.	A	G	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.849;DP=405;ExcessHet=0;FS=1.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-0.008;SOR=0.532	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	9	0	1	0
chr11	111495236	111495236	G	C	exonic	BTG4	.	nonsynonymous SNV	BTG4:NM_001367974:exon5:c.C589G:p.L197V,BTG4:NM_001367975:exon5:c.C589G:p.L197V,BTG4:NM_017589:exon5:c.C589G:p.L197V	.	.	.	.	.	.	.	.	.	.	.	2363305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.00218107779796	.	0.000199681	0.0002	0	8.651e-05	0	0	0	0	0.0011	0.0001294	20	154602	rs533540949	7.874e-05	8.003e-05	5.722e-05	0.0001	0.0013	6.673e-05	6.207e-05	0.0011	0.0010	0	0	0	0	0	0	8.997e-07	6.627e-05	0.0013	5.255e-05	5.906e-05	1.285e-05	9.407e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.343	0.12592	T	0.11	0.37310	T	0.003	0.11197	B	0.005	0.11217	B	0.039138	0.24205	N	0.381467	0.996996	0.22829	N	1.795	0.47270	L	.	.	.	-0.13	0.08971	N	0.112	0.09914	-0.8032	0.54956	T	0.209	0.56812	T	9	0.013045937	0.00278	T	0.002181	0.04098	T	0.074	0.21613	0.312	0.28612	0.230578612272	0.22657	0.47760584671852635	0.47680	0.175110475986	0.19712	0.262312561274	0.05169	T	0.071342	0.34184	T	-0.487133	0.00674	T	-0.513043	0.21001	T	0.04257882489028	0.04161	T	0.616038	0.23564	T	0.08815869	0.20557	0.075014435	0.16470	0.08815869	0.20556	0.075014435	0.16470	-3.587	0.17669	T	.	.	0.073	0.04806	B	.	.	0.594163	0.09625	6.399	0.95818524909112812	0.27904	0.39239	0.26168	N	AEFBI	0.065448	0.12765	N	-0.457264818534474	0.23495	1.262088	-0.407844878559921	0.24766	1.358102	0.00243467355576743	0.09427	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	3.86	0.43689	0.152000	0.16120	1.188000	0.24745	0.672000	0.70159	0.020000	0.19661	0.717000	0.26328	0.054000	0.15518	0.0:0.284:0.7159:0.0	14.215	0.65329	165	0.93588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	758.43	33	chr11	111495236	.	G	C	758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.796;DP=386;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.716;SOR=0.914	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,954	9	0	1	0
chr11	111836229	111836229	G	A	exonic	ALG9	.	nonsynonymous SNV	ALG9:NM_001352409:exon12:c.C1004T:p.P335L,ALG9:NM_001352418:exon12:c.C1394T:p.P465L,ALG9:NM_001352423:exon12:c.C881T:p.P294L,ALG9:NM_001077690:exon13:c.C1517T:p.P506L,ALG9:NM_001077691:exon13:c.C1025T:p.P342L,ALG9:NM_001077692:exon13:c.C1004T:p.P335L,ALG9:NM_001352410:exon13:c.C1004T:p.P335L,ALG9:NM_001352411:exon13:c.C1004T:p.P335L,ALG9:NM_001352412:exon13:c.C1004T:p.P335L,ALG9:NM_001352413:exon13:c.C1025T:p.P342L,ALG9:NM_001352414:exon13:c.C1025T:p.P342L,ALG9:NM_001352415:exon13:c.C1004T:p.P335L,ALG9:NM_001352416:exon13:c.C1004T:p.P335L,ALG9:NM_001352417:exon13:c.C1517T:p.P506L,ALG9:NM_001352419:exon13:c.C1025T:p.P342L,ALG9:NM_001352420:exon13:c.C1004T:p.P335L,ALG9:NM_001352421:exon13:c.C1004T:p.P335L,ALG9:NM_024740:exon13:c.C1538T:p.P513L,ALG9:NM_001352422:exon14:c.C929T:p.P310L	Congenital disorder of glycosylation, type Il;Gillessen-Kaesbach-Nishimura syndrome, Autosomal recessive	0	1485	37	0	0	37	0.0123046	.	.	.	177264	not_specified|ALG9-related_disorder|ALG9_congenital_disorder_of_glycosylation|not_provided|Gillessen-Kaesbach-Nishimura_syndrome	MedGen:CN169374|.|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MedGen:C3661900|MONDO:MONDO:0009890,MedGen:C1849762,OMIM:263210	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0336632568633	0.0015	0.00239617	0.0027	0.0007	0.0009	0.0001	0.0002	0.0027	0.0022	0.0074	0.0026649	412	154602	rs185149177	0.0035	0.0035	0.0034	0.0036	0.0068	0.0034	0.0034	0.0063	0.0061	0.0003	0.0008	0.0030	0	0.0005	0.0054	0.0037	0.0033	0.0068	0.0020	0.0020	0.0021	0.0019	0.0058	0.0018	0.0018	0.0041	0.0036	0.0006	0.0044	0.0014	0.0020	0	0.0007	0.0034	0.0031	0.0024	0.0058	0.104	0.29959	T	0.138	0.34716	T	0.047	0.27304	B	0.025	0.28987	B	0.000007	0.62929	N	0.147742	1	0.81001	D	2.015	0.55033	M	-0.07	0.63738	T	-5.0	0.82341	D	0.607	0.72925	-0.8880	0.49105	T	0.179	0.52551	T	10	0.008098453	0.00184	T	0.033663	0.55143	D	0.169	0.43123	.	.	0.788021503808	0.78605	0.5538995121555957	0.55315	0.425138627803	0.42928	0.614278435707	0.54920	T	0.431527	0.77962	T	-0.298674	0.08785	T	-0.198215	0.54816	T	0.0385160776820125	0.03423	T	0.941106	0.78262	D	0.29010123	0.52002	0.22707318	0.47706	0.29010123	0.52002	0.22707318	0.47705	-8.14	0.69506	D	0.2835001838480206	0.37917	0.085	0.10400	B	.;.;.;.;.	.;.;.;.;.	4.022110	0.59410	24.1	0.99620067464578854	0.75353	0.97965	0.78484	D	AEFDBIJ	0.904817	0.85558	D	0.121574638116134	0.47471	2.97232	0.292554044619244	0.55102	3.673803	0.999996788867736	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.920000	0.86928	9.952000	0.82735	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.093	0.93221	81	0.96616	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004044	0.000000	0.005435	0.005917	0.000000	0.000000	0.003067	0.003788	0.05	769.43	33	chr11	111836229	.	G	A	769.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.913;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.955;SOR=0.627	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1015	9	0	1	0
chr11	111926149	111926149	T	C	exonic	C11orf52	.	nonsynonymous SNV	C11orf52:NM_080659:exon4:c.T322C:p.F108L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0377522800692	.	0.00199681	0.0010	0	8.642e-05	0.0001	0	1.5e-05	0	0.0073	0.0008991	139	154602	rs587635751	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	8.961e-05	2.236e-05	0	0	0	0.0005	1.799e-06	0.0006	0.0066	0.0002	0.0002	8.991e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.404e-05	0	0	0	0.0002	0	0	0	0	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000020	0.62929	D	0.000000	0.965765	0.38488	D	1.625	0.41611	L	0.38	0.57575	T	-6.0	0.89534	D	0.823	0.81857	-0.5944	0.65044	T	0.234	0.60002	T	10	0.011179507	0.00245	T	0.037752	0.57812	D	0.295	0.61502	0.318	0.29581	0.430579932962	0.42676	0.7528489722663209	0.75231	1.5983681062	0.88651	.	.	.	0.184312	0.53693	T	-0.0614917	0.42673	T	0.142481	0.79707	D	0.116232526030901	0.14057	T	0.709529	0.32034	T	0.88043845	0.89703	0.79103416	0.87710	0.88043845	0.89704	0.79103416	0.87711	-3.919	0.22587	T	.	.	0.975	0.90290	P	.	.	4.055927	0.60153	24.2	0.99755014917074081	0.84615	0.78230	0.38565	D	AEFBCI	0.598824	0.59207	D	0.516494247378367	0.68063	5.166126	0.516446391015151	0.69096	5.311839	0.999999140363464	0.74766	0.538715	0.22204	0	0.475579	0.06741	0	0.78367	0.99111	0	0.656636	0.63459	0	.	.	5.07	5.07	0.68106	4.426000	0.59629	7.627000	0.62562	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:0.0:1.0	12.316	0.54280	90	0.96275	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1736.43	35	chr11	111926149	.	T	C	1736.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.57;DP=452;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.721;SOR=0.691	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr11	112214814	112214814	G	A	exonic	BCO2	.	nonsynonymous SNV	BCO2:NM_001256398:exon8:c.G1166A:p.G389D,BCO2:NM_001256400:exon9:c.G1070A:p.G357D,BCO2:NM_001037290:exon10:c.G1283A:p.G428D,BCO2:NM_001256397:exon10:c.G1283A:p.G428D,BCO2:NM_031938:exon10:c.G1385A:p.G462D	.	430	1068	23	1	0	25	0.0115687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.759	0.293365816146	0.0021	0.000599042	0.0026	0.0002	0.0008	0	0	0.0028	0.0022	0.0074	0.0024062	372	154602	rs139612323	0.0024	0.0024	0.0021	0.0026	0.0095	0.0023	0.0023	0.0075	0.0068	0.0002	0.0013	0.0076	0	0.0002	0.0095	0.0021	0.0028	0.0072	0.0015	0.0015	0.0014	0.0015	0.0052	0.0013	0.0013	0.0036	0.0031	0.0002	0	0.0009	0.0063	0	0	0	0.0022	0.0038	0.0052	0.002	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.973	0.72923	D	0.000000	0.84330	D	0.045838	1	0.81001	D	2.58	0.75369	M	-3.54	0.94799	D	-4.47	0.77881	D	0.95	0.95841	1.035	0.97804	D	0.913	0.97123	D	10	0.0858323	0.14530	T	0.293366	0.90639	D	0.910	0.97587	.	.	0.938140714169	0.93749	0.919297372627089	0.91905	0.423288817443	0.42795	0.51526337862	0.40960	T	0.650942	0.89407	D	0.156289	0.69857	D	0.455168	0.93712	D	0.051481616603211	0.05758	T	0.962304	0.90829	D	0.80129206	0.83988	0.8391546	0.90783	0.80129206	0.83989	0.8391546	0.90783	-9.861	0.76242	D	.	.	0.685	0.76179	P	.;.;.;.;.;.	.;.;.;.;.;.	4.897691	0.80468	27.3	0.99820268161618808	0.90326	0.98760	0.86500	D	AEFBI	0.941797	0.94555	D	0.854464077099419	0.89360	9.940139	0.798718644719191	0.89703	10.08612	0.999996331904234	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.81	4.9	0.63643	9.450000	0.96770	11.728000	0.94942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0716:0.0:0.9284:0.0	14.293	0.65845	746	0.52331	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.006793	0.000000	0.000000	0.008621	0.018293	0.022727	0.05	1179.43	34	chr11	112214814	.	G	A	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.114;SOR=0.652	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	9	0	1	0
chr11	113700128	113700128	T	C	exonic	TMPRSS5	.	nonsynonymous SNV	TMPRSS5:NM_001288752:exon2:c.A44G:p.Y15C,TMPRSS5:NM_030770:exon2:c.A44G:p.Y15C	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.032180533826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164762152	4.186e-06	6.156e-06	4.144e-06	4.228e-06	0.0002	1.51e-06	9.9e-07	1.34e-06	9.7e-07	0	0	0	0	0	0.0002	4.559e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.91255	T	0.187	0.30534	T	0.001	0.09854	B	0.001	0.06944	B	0.337008	0.14023	N	0.610009	1	0.08975	N	1.04	0.26193	L	-2.35	0.88066	D	-1.48	0.36189	N	0.172	0.23125	-0.6795	0.61396	T	0.402	0.75281	T	10	0.043830454	0.03274	T	0.032181	0.54073	D	0.105	0.29889	0.213	0.13210	0.588891999268	0.58564	0.3862944826102544	0.38544	0.0877038788788	0.09897	0.410441339016	0.26517	T	0.017697	0.14531	T	-0.0467524	0.44938	T	-0.304933	0.44201	T	0.0487487908392749	0.05279	T	0.692831	0.30243	T	0.06630304	0.14253	0.06981155	0.14754	0.06630304	0.14253	0.06981155	0.14754	-2.647	0.06869	T	.	.	0.092	0.23535	B	.;.;.	.;.;.	0.708136	0.10771	7.456	0.98091933177987001	0.38197	0.01693	0.05392	N	AEFDBI	0.046838	0.07822	N	-1.02331946746848	0.08121	0.3797025	-1.03088599582003	0.09110	0.4514232	0.725489818353318	0.22982	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.85	0.174	0.14325	0.109000	0.15252	-0.551000	0.08528	0.607000	0.46521	0.023000	0.19925	0.000000	0.08366	0.205000	0.22041	0.0:0.2478:0.0:0.7522	6.337	0.20505	542	0.72843	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001010	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	362.43	30	chr11	113700128	.	T	C	362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.11;ReadPosRankSum=1.6;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:81:.:.:0,81,1215:.	9	0	1	0
chr11	113739299	113739299	C	T	exonic	ZW10	.	nonsynonymous SNV	ZW10:NM_004724:exon12:c.G1667A:p.G556E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.0580666640547	.	.	8.239e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs773919044	8.895e-06	8.893e-06	6.808e-06	1.1e-05	2.237e-05	4.96e-06	3.82e-06	5.31e-06	3.88e-06	0	2.237e-05	0	0	0	0	9.894e-06	1.656e-05	0	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	0.992	0.64738	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	0.77	0.49642	T	-6.01	0.89648	D	0.963	0.97317	-0.5783	0.65684	T	0.318	0.68709	T	10	0.9644962	0.95907	D	0.058067	0.67187	D	0.642	0.86384	0.889	0.97273	0.597317120074	0.59411	0.8338130151864489	0.83340	0.67672764986	0.59792	0.852499604225	0.89990	D	0.290818	0.66359	T	0.25108	0.78701	D	0.186529	0.82371	D	0.943235754966736	0.61820	D	0.947205	0.79675	D	0.93473005	0.94712	0.91661686	0.96159	0.93473005	0.94713	0.91661686	0.96159	-15.479	0.96874	D	.	.	0.954	0.87371	P	.	.	4.640523	0.73874	26.1	0.99785118829781849	0.87131	0.98796	0.86965	D	AEFDBI	0.904939	0.85584	D	0.771735502524725	0.84311	8.252533	0.741833091269514	0.85548	8.612834	0.999999999998476	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.568000	0.81546	7.613000	0.61989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	19.813	0.96550	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	837.43	33	chr11	113739299	.	C	T	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=416;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-0.432;SOR=0.913	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	9	0	1	0
chr11	113743922	113743922	T	G	exonic	ZW10	.	nonsynonymous SNV	ZW10:NM_004724:exon10:c.A1391C:p.E464A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0182620538494	.	0.000399361	0.0002	0	0	0	0	0	0	0.0012	0.0001423	22	154602	rs551055591	7.114e-05	7.114e-05	4.084e-05	0.0001	0.0011	5.98e-05	5.588e-05	0.0010	0.0009	0	0	0	0	0	0.0002	1.799e-06	4.967e-05	0.0011	5.907e-05	5.905e-05	1.284e-05	0.0001	0.0019	3.074e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.094	0.31383	T	0.201	0.27503	T	0.005	0.12996	B	0.053	0.25678	B	0.025604	0.26059	N	0.436358	0.931452	0.36990	D	1.04	0.26193	L	0.88	0.46028	T	-2.48	0.54059	N	0.193	0.21188	-1.0657	0.10386	T	0.078	0.30982	T	10	0.009890348	0.00222	T	0.018262	0.40264	T	0.021	0.04004	0.333	0.32005	0.231231049324	0.22751	0.4138489454678878	0.41300	0.142835112035	0.16118	0.411956906319	0.26727	T	0.213903	0.57535	T	-0.519707	0.00442	T	-0.564851	0.15924	T	0.0476439480658318	0.05080	T	0.649435	0.26018	T	0.06930211	0.15172	0.05546051	0.09732	0.06930211	0.15172	0.05546051	0.09732	-4.71	0.33525	T	.	.	0.087	0.11414	B	.	.	1.806187	0.22954	15.83	0.96337372048733694	0.29469	0.75748	0.37104	D	AEFBI	0.080652	0.16311	N	-0.548063049172689	0.20544	1.083808	-0.475110114030566	0.22842	1.242682	0.0703056059856569	0.15522	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	1.96	0.25203	1.405000	0.34243	1.194000	0.24787	0.595000	0.32841	0.893000	0.31264	0.988000	0.31051	0.789000	0.37270	0.0:0.151:0.1424:0.7067	5.784	0.17585	538	0.73119	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2783.43	34	chr11	113743922	.	T	G	2783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=531;ExcessHet=0;FS=6.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.838;SOR=1.104	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	113932386	113932386	A	C	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon4:c.A433C:p.S145R,HTR3B:NM_006028:exon5:c.A466C:p.S156R	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0250066252546	0.0055	0.00179712	0.0041	0.0005	0.0034	0.0001	0.0018	0.0058	0.0033	0.0032	0.0040814	631	154602	rs72466469	0.0049	0.0049	0.0048	0.0050	0.0068	0.0048	0.0048	0.0052	0.0052	0.0007	0.0038	0.0143	0.0001	0.0013	0.0068	0.0053	0.0055	0.0031	0.0040	0.0040	0.0044	0.0036	0.0063	0.0038	0.0037	0.0058	0.0056	0.0009	0	0.0041	0.0121	0	0.0013	0	0.0063	0.0061	0.0035	0.004	0.65419	D	0.084	0.41742	T	0.934	0.58077	P	0.643	0.61279	P	0.012047	0.29308	N	0.421195	0.527966	0.31951	D	1.595	0.40691	L	-1.28	0.79376	T	-2.34	0.51811	N	0.387	0.42834	-0.2710	0.75785	T	0.383	0.73943	T	10	0.01663372	0.00351	T	0.025007	0.47992	D	0.264	0.57741	0.21	0.12781	0.757769487402	0.75556	0.42280760931178624	0.42197	0.25041078572	0.27610	0.319523781538	0.13349	T	0.152105	0.49235	T	-0.315207	0.07298	T	-0.223215	0.52425	T	0.0488645287089559	0.05299	T	0.809719	0.47040	T	0.3483172	0.56935	0.29076025	0.55100	0.3483172	0.56936	0.29076025	0.55099	-3.717	0.19569	T	.	.	0.150	0.33086	B	.;.	.;.	1.647686	0.21022	15.02	0.99737840350303608	0.83264	0.36996	0.25661	N	AEFBI	0.232044	0.35518	N	-0.317441561955011	0.28486	1.57156	-0.43329920996704	0.24026	1.313442	7.90171590104167E-4	0.07810	0.446893	0.09132	0	0.563428	0.19063	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.82	0.729	0.17416	1.081000	0.30402	1.366000	0.25918	-0.208000	0.08445	0.291000	0.25242	0.078000	0.22336	0.445000	0.27784	0.6577:0.0:0.2158:0.1265	4.941	0.13316	864	0.32732	Neurotransmitter-gated ion-channel ligand-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.013587	0.002924	0.000000	0.008621	0.015244	0.003788	0.05	1754.43	33	chr11	113932386	.	A	C	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.693;DP=509;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.529;SOR=0.696	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	9	0	1	0
chr11	113943190	113943190	T	C	exonic	HTR3B	.	nonsynonymous SNV	HTR3B:NM_001363563:exon6:c.T872C:p.I291T,HTR3B:NM_006028:exon7:c.T905C:p.I302T	.	.	.	.	.	.	.	.	0.0208	0.228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.907	0.215640755174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	9.002e-07	0	0	.	.	0	0	0	0	0	0	9.002e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.11	0.87757	M	-2.56	0.89627	D	-4.6	0.78976	D	0.977	0.98750	0.712	0.93330	D	0.808	0.93508	D	10	0.95776165	0.95152	D	0.215641	0.87518	D	0.907	0.97474	0.811	0.92719	0.939525973753	0.93889	0.830359886981671	0.82994	0.565421546696	0.52879	0.60984402895	0.54293	T	0.530489	0.83744	D	0.459327	0.92894	D	0.422015	0.92806	D	0.99723744392395	0.91078	D	0.823618	0.50455	T	0.62902796	0.74247	0.68786395	0.81640	0.62902796	0.74248	0.68786395	0.81641	-9.473	0.71362	D	.	.	0.137	0.32445	B	.;.	.;.	4.215219	0.63719	24.6	0.99785259811201055	0.87131	0.97882	0.77839	D	AEFBI	0.732812	0.67945	D	0.623597150701331	0.74669	6.172222	0.539534663008072	0.70672	5.539829	0.99998627827559	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.41	4.28	0.50183	5.957000	0.70042	6.158000	0.54298	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0:0.0721:0.0:0.9279	11.165	0.47763	900	0.24599	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	998.43	34	chr11	113943190	.	T	C	998.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.207;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=1.35;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	9	0	1	0
chr11	113989620	113989620	C	T	exonic	HTR3A	.	nonsynonymous SNV	HTR3A:NM_213621:exon8:c.C1390T:p.R464W,HTR3A:NM_000869:exon9:c.C1294T:p.R432W,HTR3A:NM_001161772:exon9:c.C1249T:p.R417W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0419494719016	7.7e-05	.	1.651e-05	0	0	0	0	1.503e-05	0	6.056e-05	1.29e-05	2	154602	rs150192822	1.915e-05	1.984e-05	2.314e-05	1.513e-05	0.0002	1.328e-05	1.144e-05	7.712e-05	5.305e-05	0.0002	0	0	2.519e-05	0	0	1.619e-05	3.311e-05	1.159e-05	1.971e-05	1.97e-05	3.854e-05	0	4.824e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0	0	0.081	0.35918	T	0.093	0.42261	T	.	.	.	.	.	.	0.000002	0.62929	D	0.056069	0.999831	0.49637	D	2.205	0.62170	M	2.01	0.21291	T	-3.11	0.63782	D	0.282	0.33469	-1.1086	0.03192	T	0.080	0.31556	T	10	0.2235665	0.39139	T	0.041949	0.60201	D	0.134	0.36365	.	.	0.493295820912	0.48965	0.4859210865191956	0.48512	0.452195566295	0.44952	0.422808945179	0.28223	T	0.716387	0.91949	D	-0.282673	0.10387	T	-0.407148	0.32554	T	0.924217581748962	0.58527	D	0.960654	0.85269	D	0.5104881	0.67708	0.4671894	0.69088	0.5104881	0.67709	0.4671894	0.69088	-8.812	0.67252	D	.	.	0.234	0.52194	B	.;.;.;.;.	.;.;.;.;.	3.862913	0.56034	23.7	0.9990000520358564	0.97199	0.84287	0.43369	D	AEFDBI	0.653417	0.62646	D	0.240776795514531	0.53184	3.48852	0.248784463986829	0.52582	3.431962	3.7911465782476E-4	0.06745	0.626454	0.40138	0	0.59043	0.45803	0	0.80507	0.99327	0	0.613276	0.41899	0	.	.	5.71	2.78	0.31702	2.620000	0.46075	0.661000	0.20504	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.998000	0.85391	0.2832:0.5805:0.0:0.1363	6.148	0.19511	934	0.15400	Neurotransmitter-gated ion-channel transmembrane domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	899.43	34	chr11	113989620	.	C	T	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=418;ExcessHet=0;FS=2.682;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=1.58;SOR=0.844	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1154	9	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.05	1137.43	35	chr11	114530269	.	G	C	1137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.961;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-0.616;SOR=0.699	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1077	9	0	1	0
chr11	117171692	117171692	C	T	exonic	PAFAH1B2	.	nonsynonymous SNV	PAFAH1B2:NM_001184746:exon6:c.C482T:p.S161L	.	438	1071	12	1	0	14	0.00649351	.	.	.	2840004	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.164	.	.	0.00259585	0.0042	0.0036	0.0106	0	0	0.0086	0.0076	0.0021	0.0017335	268	154602	rs186808413	0.0095	0.0091	0.0097	0.0094	0.0111	0.0094	0.0094	0.0109	0.0108	0.0018	0.0043	0.0043	2.799e-05	0.0091	0.0079	0.0111	0.0078	0.0018	0.0069	0.0069	0.0075	0.0063	0.0107	0.0066	0.0064	0.0101	0.0098	0.0023	0	0.0059	0.0049	0	0.0096	0.0034	0.0107	0.0057	0.0012	1.0	0.00964	T	0.952	0.02603	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.85	0.00483	N	0.107	0.09207	-0.9803	0.34932	T	0.012	0.04605	T	8	0.0031649172	0.00053	T	.	.	.	0.164	0.42212	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.621625	0.00107	T	-0.652072	0.08810	T	0.00409733260622465	0.00043	T	0.380262	0.09172	T	.	.	.	.	.	.	.	.	-3.234	0.12901	T	.	.	0.125	0.26388	B	.	.	0.986111	0.13641	10.17	0.82531075288562827	0.14241	0.03324	0.08395	N	ALL	0.021441	0.00956	N	-1.38582539939657	0.02770	0.1227948	-1.34268760873737	0.03893	0.182518	0.999999560853181	0.74766	0.660377	0.49826	0	0.379588	0.06130	0	0.696353	0.63694	0	0.322989	0.05693	1	.	.	3.14	-0.0254	0.13261	0.120000	0.15476	-0.815000	0.07319	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.517000	0.29406	0.0:0.4755:0.2284:0.2961	3.104	0.05953	552	0.72024	.	.	.	APOC3	Liver	rs186808413	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009464	0.000000	0.027778	0.019231	0.000000	0.000000	0.000000	0.000000	0.05	1197.43	39	chr11	117171692	.	C	T	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=454;ExcessHet=0;FS=0.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.904;SOR=0.589	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr11	117179321	117179321	C	A	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon1:c.C58A:p.L20M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0104154787978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.104e-06	4.104e-06	5.445e-06	2.75e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.35726	T	0.114	0.36765	T	0.94	0.56013	P	0.462	0.52893	P	0.451120	0.12506	N	0.682813	0.937179	0.26898	N	1.245	0.31408	L	2.19	0.46777	T	-0.49	0.21644	N	0.147	0.30687	-1.0379	0.17954	T	0.105	0.38538	T	10	0.09195241	0.16152	T	0.010415	0.26915	T	0.020	0.03691	0.166	0.07071	0.254761474806	0.25079	0.2538915359724346	0.25303	0.910931701571	0.71058	0.497206509113	0.38438	T	0.006174	0.16281	T	-0.186236	0.22811	T	-0.505291	0.21799	T	0.207010790705681	0.20796	T	0.653735	0.26383	T	0.13749091	0.31832	0.06870511	0.14384	0.13749091	0.31832	0.06870511	0.14384	-5.001	0.36851	T	.	.	0.088	0.11654	B	.;.;.;.;.;.	.;.;.;.;.;.	2.550478	0.33007	19.21	0.99178314772415266	0.54614	0.33540	0.24853	N	AEFDGBHCI	0.162030	0.28815	N	-0.321766678600299	0.28323	1.561249	-0.290649118661874	0.28405	1.583595	0.999999812753925	0.74766	0.65757	0.49021	0	0.52208	0.09955	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	4.19	2.22	0.27116	0.268000	0.18336	0.806000	0.21705	0.599000	0.40250	0.013000	0.18845	0.988000	0.31051	0.994000	0.71098	0.205:0.6847:0.0:0.1103	5.025	0.13721	583	0.69484	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1383.43	117	chr11	117179321	.	C	A	1383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=2.75;SOR=0.745	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	117192344	117192344	A	G	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon20:c.A1963G:p.M655V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0110440648505	.	.	1.653e-05	0	0	0	0	1.506e-05	0	6.058e-05	1.29e-05	2	154602	rs746860374	2.781e-06	6.169e-06	2.771e-06	2.791e-06	2.331e-05	6.5e-07	4.4e-07	3.87e-06	1.45e-06	0	0	0	0	0	0	0	3.355e-05	2.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.049	0.48336	D	0.846	0.46778	P	0.842	0.60272	P	0.000000	0.84330	D	0.000000	0.999765	0.50061	D	2.43	0.70455	M	1.94	0.22678	T	-3.6	0.69357	D	0.614	0.63713	-1.0002	0.29860	T	0.119	0.41669	T	10	0.38507733	0.54480	T	0.011044	0.28250	T	0.171	0.43483	0.317	0.29419	0.30921473904	0.30521	0.7227928219749795	0.72223	0.788838983676	0.65662	0.600922644138	0.53034	T	0.085836	0.37590	T	-0.108501	0.35018	T	-0.296776	0.45064	T	0.960612714290619	0.65854	D	0.941306	0.78096	D	0.7889888	0.83210	0.7386845	0.84554	0.7889888	0.83211	0.7386845	0.84555	-7.302	0.56210	T	.	.	0.138	0.31956	B	.;.;.;.;.	.;.;.;.;.	4.609913	0.73095	25.9	0.99274474480000841	0.57661	0.85818	0.44994	D	AEFBCI	0.612591	0.60060	D	0.523746534626729	0.68498	5.225425	0.536948616031488	0.70497	5.513602	0.999967451564987	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	4.31	0.50718	6.306000	0.72778	11.244000	0.90520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9225:0.0:0.0775:0.0	10.442	0.43655	616	0.66398	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1105.43	34	chr11	117192344	.	A	G	1105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.568;DP=451;ExcessHet=0;FS=1.407;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.375;SOR=0.872	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	9	0	1	0
chr11	117219154	117219154	C	T	exonic	PCSK7	.	nonsynonymous SNV	PCSK7:NM_004716:exon11:c.G1334A:p.R445H	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	7.7e-05	0.00678914	0.0040	0	0	0.0001	0	1.792e-05	0.0041	0.0288	0.0030207	467	154602	rs139555790	0.0017	0.0017	0.0008	0.0025	0.0266	0.0016	0.0016	0.0257	0.0253	2.991e-05	2.243e-05	0	0.0001	0	0.0014	9.908e-06	0.0016	0.0266	0.0010	0.0010	0.0006	0.0014	0.0290	0.0008	0.0008	0.0251	0.0236	9.62e-05	0	0	0	0	0	0	2.94e-05	0	0.0290	0.262	0.16466	T	0.141	0.34837	T	0.003	0.11197	B	0.004	0.10090	B	0.000505	0.43753	N	0.233534	0.999971	0.19599	N	-0.03	0.05048	N	-1.44	0.80815	T	-0.32	0.12283	N	0.172	0.19995	-0.8579	0.51413	T	0.244	0.61237	T	10	0.00224936	0.00033	T	.	.	.	0.108	0.30607	.	.	0.481393932785	0.47771	0.5249313837551314	0.52417	0.648183044756	0.58173	0.221892893314	0.01422	T	0.019134	0.15298	T	-0.409593	0.02000	T	-0.341531	0.40171	T	0.0340348025916292	0.02643	T	0.812719	0.46458	T	0.060162373	0.12311	0.0399855	0.04217	0.060162373	0.12311	0.0399855	0.04217	-3.23	0.12851	T	.	.	0.066	0.02065	B	.;.	.;.	2.139018	0.27237	17.39	0.9862796910792786	0.43866	0.13493	0.17887	N	AEFBI	0.067795	0.13343	N	-0.916955437733202	0.10445	0.499179	-0.837406223478595	0.13590	0.7058474	0.999583278636023	0.40607	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.2	0.028	0.13474	0.181000	0.16691	-0.353000	0.09730	-0.266000	0.06809	0.680000	0.28438	0.095000	0.22593	0.965000	0.52897	0.0:0.611:0.0:0.389	9.467	0.37982	610	0.67008	Peptidase S8/S53 domain;Peptidase S8/S53 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.011364	0.05	791.43	33	chr11	117219154	.	C	T	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.115;DP=382;ExcessHet=0;FS=0.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.8;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1058	9	0	1	0
chr11	117289664	117289664	T	G	exonic	BACE1	.	nonsynonymous SNV	BACE1:NM_001207048:exon8:c.A1108C:p.M370L,BACE1:NM_001207049:exon8:c.A1033C:p.M345L,BACE1:NM_012104:exon9:c.A1408C:p.M470L,BACE1:NM_138971:exon9:c.A1276C:p.M426L,BACE1:NM_138972:exon9:c.A1333C:p.M445L,BACE1:NM_138973:exon9:c.A1201C:p.M401L	.	422	1095	5	0	0	5	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0168633849603	0.0009	0.000399361	0.0008	9.61e-05	0.0010	0	0.0009	0.0012	0	0.0002	0.0008344	129	154602	rs143544031	0.0011	0.0011	0.0012	0.0011	0.0068	0.0011	0.0011	0.0051	0.0045	0.0005	0.0009	3.826e-05	0	0.0009	0.0068	0.0013	0.0012	0.0002	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0014	0.0003	0	0.0015	0	0.0012	0.0019	0	0.528	0.09319	T	1.0	0.01155	T	0.053	0.22573	B	0.014	0.19346	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	0.975	0.24501	L	0.92	0.50721	T	0.24	0.04861	N	0.62	0.70615	-1.0497	0.14481	T	0.079	0.31405	T	10	0.04303229	0.03111	T	0.016863	0.38312	T	0.183	0.45592	0.315	0.29096	0.770086399773	0.76797	0.6699049850951962	0.66928	0.665311434226	0.59132	0.752660155296	0.74839	T	0.25145	0.62170	T	-0.251465	0.13919	T	-0.147218	0.59490	T	0.0223976558958757	0.00953	T	0.905509	0.82627	D	0.46385038	0.64910	0.47531548	0.69595	0.46385038	0.64911	0.47531548	0.69596	1.62	0.00167	T	.	.	0.166	0.37633	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.150855	0.42657	21.6	0.95301928218251697	0.26623	0.98665	0.85319	D	AEFDBI	0.940149	0.94172	D	-0.134864233134642	0.35880	2.066669	0.108947530788301	0.45004	2.771495	0.999999910508254	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	7.629000	0.82391	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.072	0.71714	692	0.58729	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1260.43	113	chr11	117289664	.	T	G	1260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.867;DP=425;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.338;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	9	0	1	0
chr11	117995616	117995616	T	C	exonic	IL10RA	.	nonsynonymous SNV	IL10RA:NM_001558:exon6:c.T716C:p.F239S	Inflammatory bowel disease 28, early onset, autosomal recessive, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	724210	Inflammatory_bowel_disease_28	MONDO:MONDO:0013153,MedGen:C2751053,OMIM:613148,Orphanet:238569	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.166	.	.	0.00199681	0.0014	0	8.637e-05	0	0	2.997e-05	0.0022	0.0099	0.0011837	183	154602	rs541386535	0.0006	0.0006	0.0003	0.0008	0.0088	0.0005	0.0005	0.0083	0.0081	0	0	0	0	0	0.0003	5.396e-06	0.0006	0.0088	0.0003	0.0003	0.0001	0.0004	0.0083	0.0002	0.0002	0.0062	0.0055	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0083	0.56	0.06381	T	0.441	0.13290	T	0.017	0.17573	B	0.015	0.17295	B	0.680880	0.06091	N	1.145840	1	0.08975	N	1.83	0.48079	L	0.47	0.56114	T	-2.04	0.46842	N	0.286	0.32370	-0.9746	0.36213	T	0.150	0.47822	T	10	0.005114436	0.00111	T	.	.	.	0.166	0.42578	0.443	0.49975	0.74969540389	0.74743	0.7755332123887642	0.77503	0.382479432178	0.39578	0.391262114048	0.23848	T	0.188824	0.54286	T	-0.405911	0.02116	T	-0.348306	0.39398	T	0.017416136980953	0.00479	T	0.49745	0.15470	T	0.12422909	0.29153	0.0814436	0.18509	0.12422909	0.29153	0.0814436	0.18509	-2.371	0.04958	T	0.3741934076273508	0.46939	0.134	0.29116	B	.	.	0.961051	0.13376	9.881	0.72932637537241263	0.10147	0.05512	0.11401	N	AEFBCI	0.120758	0.23509	N	-0.865551726478361	0.11669	0.5644062	-0.935730084382771	0.11255	0.5722659	0.999585007768319	0.40607	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.16	-0.332	0.12046	0.219000	0.17426	1.861000	0.29322	0.665000	0.62972	0.000000	0.06391	0.055000	0.21918	0.080000	0.17246	0.0:0.0916:0.5385:0.3698	7.282	0.25492	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2386.43	34	chr11	117995616	.	T	C	2386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.128;DP=510;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.255;SOR=0.853	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1433	9	0	1	0
chr11	118117386	118117386	G	T	exonic	TMPRSS4	.	nonsynonymous SNV	TMPRSS4:NM_001173552:exon11:c.G1114T:p.G372C,TMPRSS4:NM_001083947:exon12:c.G1219T:p.G407C,TMPRSS4:NM_001173551:exon12:c.G1228T:p.G410C,TMPRSS4:NM_001290094:exon12:c.G1159T:p.G387C,TMPRSS4:NM_001290096:exon12:c.G793T:p.G265C,TMPRSS4:NM_019894:exon12:c.G1234T:p.G412C	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.083272478285	.	0.000199681	0.0001	0	8.637e-05	0	0	0.0002	0	0.0002	6.5e-06	1	154602	rs190228222	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	2.987e-05	4.472e-05	3.826e-05	0	0	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	9.406e-05	0.0008	8.167e-05	6.723e-05	0.0003	0.0002	0	0	6.536e-05	0	0	0	0	0.0002	0	0.0008	0.04	0.44694	D	0.052	0.49390	T	0.985	0.73220	D	0.866	0.64423	P	0.534183	0.05275	N	1.278110	1	0.08975	N	1.24	0.30952	L	-2.46	0.88924	D	-3.36	0.69236	D	0.361	0.45992	-0.3330	0.74046	T	0.645	0.87622	D	10	0.19043824	0.34687	T	0.083272	0.74079	D	0.302	0.62290	.	.	0.693329335937	0.69069	0.7699028836353372	0.76939	0.543461005332	0.51422	0.269273340702	0.06046	T	0.32161	0.69269	T	-0.206842	0.19826	T	-0.228914	0.51878	T	0.110080569982529	0.13432	T	0.744825	0.36507	T	0.22098392	0.44666	0.16762085	0.38661	0.22098392	0.44666	0.16762085	0.38660	-4.198	0.28610	T	.	.	0.218	0.47654	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.832958	0.37356	20.5	0.98737567352764966	0.45452	0.05651	0.11564	N	AEFBI	0.152411	0.27709	N	-0.494196940401602	0.22269	1.187974	-0.672898364916662	0.17640	0.9388595	5.73794794813383E-4	0.07363	0.554377	0.28877	0	0.573078	0.20572	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.06	0.436	0.15762	0.211000	0.17268	0.445000	0.18464	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3181:0.1375:0.4202:0.1243	1.993	0.03240	378	0.83833	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	2359.43	101	chr11	118117386	.	G	T	2359.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.043;DP=1003;ExcessHet=0;FS=1.308;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.211;SOR=0.553	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	9	0	1	0
chr11	118313835	118313835	C	G	exonic	CD3E	.	nonsynonymous SNV	CD3E:NM_000733:exon7:c.C481G:p.P161A	Immunodeficiency 18, Autosomal recessive;Immunodeficiency 18, SCID variant, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	1926342	Immunodeficiency_18|Inborn_genetic_diseases	MONDO:MONDO:0014278,MedGen:C3810127,OMIM:615615|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.049698941004	.	0.000199681	8.255e-05	0	0	0	0	0	0	0.0006	7.12e-05	11	154602	rs530715111	6.363e-05	6.362e-05	3.267e-05	9.489e-05	0.0009	5.295e-05	4.911e-05	0.0007	0.0007	0	8.944e-05	0	0	0	0	8.093e-06	8.283e-05	0.0009	5.253e-05	5.249e-05	6.424e-05	4.029e-05	0.0006	2.556e-05	1.829e-05	0.0002	8.989e-05	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0006	0.046	0.40573	D	0.088	0.42794	T	0.836	0.46303	P	0.155	0.34417	B	0.000679	0.42516	D	0.107097	0.68252	0.33248	D	2.3	0.65703	M	0.62	0.53302	T	-4.39	0.77225	D	0.229	0.40864	-0.5848	0.65427	T	0.141	0.46110	T	10	0.056858897	0.06439	T	0.049699	0.63923	D	0.153	0.40148	.	.	0.541105671861	0.53764	0.31358858478191076	0.31271	0.274579088507	0.29952	0.380304068327	0.22299	T	0.553019	0.84899	D	-0.335577	0.05700	T	-0.340314	0.40308	T	0.159535557031631	0.17837	T	0.69953	0.30934	T	0.12003496	0.28254	0.15667439	0.36671	0.12003496	0.28254	0.15667439	0.36670	-3.459	0.15863	T	.	.	0.102	0.23605	B	.;.	.;.	2.248474	0.28719	17.89	0.97325287443444353	0.33399	0.15739	0.19058	N	AEFBI	0.169099	0.29590	N	-0.00427771481680406	0.41662	2.495951	-0.0574017589920204	0.37172	2.172869	0.999673123323755	0.41644	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.97	4.05	0.46415	0.753000	0.26042	0.604000	0.19959	0.549000	0.26987	0.619000	0.27905	0.523000	0.25320	0.905000	0.44082	0.1911:0.8089:0.0:0.0	10.637	0.44765	315	0.87208	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	615.43	33	chr11	118313835	.	C	G	615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.255;DP=384;ExcessHet=0;FS=1.025;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.443;SOR=0.963	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1098	9	0	1	0
chr11	118344448	118344448	G	A	exonic	CD3G	.	nonsynonymous SNV	CD3G:NM_000073:exon1:c.G25A:p.V9I	Immunodeficiency 17, CD3 gamma deficient, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00852769420214	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372130474	9.155e-06	1.368e-05	6.964e-06	1.139e-05	0.0001	5.11e-06	3.94e-06	3.556e-05	2.154e-05	0	0.0001	0	0	0	0	4.586e-06	6.798e-05	0	6.569e-06	6.566e-06	1.284e-05	0	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.006	0.61437	D	0.225	0.25514	T	0.054	0.22658	B	0.031	0.21939	B	0.867848	0.08847	N	0.948110	1	0.22728	N	0.345	0.11182	N	0.53	0.55090	T	-0.42	0.14193	N	0.131	0.12627	-1.0223	0.22965	T	0.065	0.26913	T	10	0.06521785	0.08765	T	0.008528	0.22557	T	0.084	0.24469	.	.	0.213573922156	0.20996	0.3782461667705875	0.37739	0.299493112566	0.32315	0.229720383883	0.01947	T	0.136706	0.46923	T	-0.159954	0.26767	T	-0.467539	0.25781	T	0.0704200818661098	0.08710	T	0.669433	0.27806	T	0.06291232	0.13190	0.07001964	0.14827	0.06291232	0.13189	0.07001964	0.14827	-4.038	0.24370	T	.	.	0.094	0.14614	B	.	.	1.153162	0.15417	11.83	0.58811510507123377	0.06078	0.08026	0.14004	N	AEFBHI	0.076154	0.15314	N	-0.940312949442268	0.09912	0.4712431	-0.939039571184503	0.11178	0.5678976	0.999674759964101	0.41644	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.49	-1.33	0.08693	0.126000	0.15597	0.009000	0.13411	0.676000	0.76740	0.484000	0.26832	0.000000	0.08366	0.158000	0.20581	0.342:0.1335:0.3881:0.1364	1.580	0.02474	142	0.94345	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1452.43	37	chr11	118344448	.	G	A	1452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.647;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.497;SOR=0.682	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	9	0	1	0
chr11	118365139	118365139	G	C	exonic	UBE4A	.	nonsynonymous SNV	UBE4A:NM_001204077:exon2:c.G59C:p.G20A,UBE4A:NM_004788:exon2:c.G59C:p.G20A	.	436	1085	1	0	0	1	0.000460617	.	.	.	3491083	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0045660092906	0.0002	.	8.359e-05	0	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs35367525	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	2.988e-05	0	0	0	0	0	0.0004	0.0005	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	0.0001	0.0003	0.0002	2.415e-05	0	6.546e-05	0	0	0	0	0.0004	0	0	1.0	0.00964	T	1.0	0.01155	T	0.02	0.20350	B	0.005	0.19048	B	0.000000	0.84330	D	0.084804	0.999963	0.52935	D	0.695	0.17993	N	0.99	0.42122	T	0.31	0.04022	N	0.136	0.13341	-1.0063	0.28065	T	0.087	0.33662	T	10	0.06657538	0.09150	T	0.004566	0.11252	T	0.174	0.44019	.	.	0.0675242888579	0.06100	0.1487408330699164	0.14796	0.363724479938	0.37996	0.669441580772	0.62759	T	0.037783	0.24604	T	-0.34079	0.05333	T	-0.428361	0.30121	T	0.131012619176992	0.15476	T	0.951205	0.81406	D	0.20682307	0.42869	0.29715952	0.55749	0.20682307	0.42869	0.29715952	0.55748	-4.711	0.33537	T	.	.	0.163	0.36053	B	.;.	.;.	3.252135	0.44444	21.9	0.98524064293359814	0.42508	0.98912	0.88526	D	AEFBHI	0.822302	0.74266	D	-0.0103094152928785	0.41388	2.474681	0.239821940005929	0.52072	3.384647	0.999999999990929	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.416000	0.79356	11.760000	0.95608	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	123	0.95099	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	947.43	75	chr11	118365139	.	G	C	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.201;DP=386;ExcessHet=0;FS=0.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.748;SOR=0.843	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1081	9	0	1	0
chr11	118581318	118581318	C	G	exonic	ARCN1	.	nonsynonymous SNV	ARCN1:NM_001655:exon2:c.C76G:p.R26G	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0748069254124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.026e-05	9.528e-06	1.1e-05	1.349e-05	6.16e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.15	0.88382	M	1.17	0.37910	T	-5.73	0.90060	D	0.894	0.93723	-0.2848	0.75410	T	0.316	0.68593	T	10	0.9059999	0.89964	D	0.074807	0.72134	D	0.526	0.79947	0.741	0.87317	0.707600317614	0.70505	0.7663305946693483	0.76582	1.70680105471	0.90386	0.885740578175	0.94719	D	0.354624	0.93808	T	0.253045	0.78885	D	0.125705	0.78612	D	0.996590852737427	0.89672	D	0.989923	0.97754	D	0.833231	0.86128	0.8024194	0.88421	0.833231	0.86130	0.8024194	0.88422	-15.92	0.97639	D	.	.	0.875	0.92479	P	.;.;.;.	.;.;.;.	5.044284	0.83977	28.2	0.99887152377858368	0.96204	0.99520	0.97008	D	AEFDGBHIJ	0.959769	0.98026	D	0.936004392847711	0.93408	12.02017	0.885547209986188	0.94910	13.14699	1.0	0.98316	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.616919	0.45865	0	.	.	5.55	5.55	0.83298	7.506000	0.80535	2.576000	0.33390	0.589000	0.31548	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	19.514	0.95147	343	0.85802	AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;.;AP complex, mu/sigma subunit	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1583.43	34	chr11	118581318	.	C	G	1583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.262;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.396;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	9	0	1	0
chr11	118647951	118647951	C	T	exonic	PHLDB1	.	nonsynonymous SNV	PHLDB1:NM_001144759:exon17:c.C3388T:p.R1130W,PHLDB1:NM_001144758:exon18:c.C3529T:p.R1177W,PHLDB1:NM_015157:exon19:c.C3529T:p.R1177W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0398644724163	0.0007	0.000199681	0.0009	0	0.0028	0	0	0.0014	0	0.0004	0.0003493	54	154602	rs148770039	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0005	0.0005	0	0.0002	0.0010	2.658e-05	0.0002	0.0005	0.0006	0.0005	0.0004	0.0003	0.0003	0.0004	0.0003	0.0006	0.0003	0.0002	0.0004	0.0004	0.0001	0	0.0001	0.0009	0	0	0	0.0006	0	0.0004	0.0	0.91255	D	0.002	0.79402	D	0.995	0.90584	D	0.884	0.74104	P	0.000065	0.52346	D	0.119151	0.887907	0.38146	D	2.395	0.69210	M	0.85	0.47130	T	-5.46	0.87063	D	0.479	0.52119	-0.6653	0.62041	T	0.219	0.58137	T	10	0.026146144	0.00788	T	0.039864	0.59054	D	0.206	0.49396	.	.	0.196089822672	0.19227	0.4010178116487693	0.40016	0.519949084408	0.49808	0.738123238087	0.72697	T	0.257883	0.62898	T	-0.302797	0.08398	T	-0.329992	0.41470	T	0.214027166366577	0.21161	T	0.988539	0.96067	D	0.6914993	0.77592	0.56058764	0.74577	0.6914993	0.77594	0.56058764	0.74577	-11.504	0.83647	D	.	.	0.245	0.54997	B	.;.;.;.	.;.;.;.	3.601221	0.50864	23.0	0.99896932309951414	0.96971	0.53405	0.29364	D	AEFBI	0.572152	0.57585	D	-0.0503114853990451	0.39587	2.337005	-0.188797638231183	0.31946	1.812792	0.00512461451207038	0.10836	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.05	-1.07	0.09459	-0.790000	0.04709	0.305000	0.17021	0.599000	0.40250	0.000000	0.06391	0.948000	0.28948	0.997000	0.79791	0.7823:0.2177:0.0:0.0	16.995	0.86239	315	0.87208	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002053	0.000000	0.001366	0.005882	0.000000	0.008772	0.000000	0.000000	0.05	689.43	36	chr11	118647951	.	C	T	689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.534;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.742;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1257	9	0	1	0
chr11	118660658	118660658	A	G	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.T890C:p.I297T,TREH:NM_007180:exon10:c.T983C:p.I328T	Trehalase deficiency	9	1502	11	0	0	11	0.00364842	.	.	.	3409315	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00350055060882	0.0041	0.000998403	0.0037	0.0029	0.0029	0	0	0.0055	0.0018	0.0014	0.0024256	375	154602	rs200440695	0.0044	0.0044	0.0046	0.0042	0.0056	0.0043	0.0043	0.0051	0.0051	0.0008	0.0016	0.0016	2.536e-05	9.451e-05	0.0056	0.0053	0.0043	0.0016	0.0028	0.0028	0.0030	0.0025	0.0046	0.0026	0.0025	0.0041	0.0040	0.0013	0	0.0029	0.0006	0	0	0.0034	0.0046	0.0014	0.0019	0.039	0.42487	D	0.002	0.79402	D	0.155	0.28155	B	0.1	0.30674	B	0.927565	0.07515	N	1.032410	1	0.08975	N	.	.	.	1.99	0.21666	T	-2.22	0.50337	N	0.124	0.17966	-0.9561	0.39898	T	0.023	0.09832	T	9	0.004912615	0.00105	T	0.003501	0.07939	T	0.040	0.10527	.	.	0.0762999501168	0.06990	0.39121967931502216	0.39036	0.056584794161	0.06250	0.380212664604	0.22287	T	0.15081	0.49046	T	-0.606908	0.00132	T	-0.643742	0.09399	T	0.00433510021244433	0.00046	T	0.724828	0.33863	T	0.047562618	0.08151	0.07519413	0.16528	0.047562618	0.08151	0.07519413	0.16528	-4.986	0.37897	T	.	.	0.061	0.01075	B	.;.	.;.	1.519233	0.19508	14.30	0.87251620157261844	0.17095	0.07549	0.13562	N	AEFDBCI	0.060226	0.11432	N	-0.94904367902249	0.09713	0.4609674	-0.972955120076944	0.10395	0.523282	0.999955890966683	0.48110	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.664235	0.64389	0	.	.	5.24	1.64	0.22949	1.665000	0.37066	1.752000	0.28483	-0.065000	0.16512	0.022000	0.19841	0.002000	0.18203	0.368000	0.26066	0.567:0.0:0.433:0.0	6.804	0.22951	316	0.87161	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006042	0.015152	0.002717	0.008772	0.000000	0.034483	0.000000	0.000000	0.05	2231.43	35	chr11	118660658	.	A	G	2231.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.637;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.354;SOR=0.719	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1337	9	0	1	0
chr11	118663125	118663125	C	T	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon3:c.G262A:p.A88T,TREH:NM_007180:exon3:c.G262A:p.A88T	Trehalase deficiency	10	1506	6	0	0	6	0.00198807	.	.	.	3886922	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00470387288337	0.0002	.	0.0004	0	0.0002	0	0	0.0003	0.0011	0.0017	0.0003687	57	154602	rs201126233	0.0003	0.0003	0.0002	0.0004	0.0021	0.0003	0.0003	0.0018	0.0018	0	0.0002	3.826e-05	0	1.873e-05	0.0021	0.0002	0.0002	0.0021	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0003	0	0	0	0	0.0002	0.0005	0.0019	0.529	0.07048	T	0.506	0.10967	T	0.003	0.11197	B	0.009	0.14300	B	0.000130	0.00470	N	4.102920	1	0.08975	N	.	.	.	1.92	0.23082	T	-0.41	0.15178	N	0.091	0.13911	-1.0356	0.18668	T	0.030	0.12760	T	9	0.0411126	0.02737	T	0.004704	0.11691	T	0.045	0.12272	.	.	0.287603790349	0.28378	0.09214168863123712	0.09147	0.0307393300803	0.03175	0.222759485245	0.01475	T	0.04366	0.26572	T	-0.674153	0.00052	T	-0.747627	0.03579	T	0.00675170057709269	0.00076	T	0.330167	0.06908	T	0.042742785	0.06537	0.08603793	0.19907	0.034341305	0.03834	0.08900118	0.20786	-5.066	0.37548	T	.	.	0.074	0.05145	B	.;.	.;.	-0.087354	0.03718	0.762	0.45684919509040672	0.03604	0.02378	0.06759	N	AEFDBI	0.039536	0.05757	N	-1.25027402494192	0.04296	0.1936174	-1.37202892191595	0.03553	0.1659638	0.995556160638755	0.34191	0.666168	0.50170	0	0.563428	0.19063	0	0.005938	0.00136	3	0.645665	0.59343	0	.	.	5.02	-6.51	0.01709	-0.426000	0.07076	-0.555000	0.08507	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.2936:0.3152:0.3911	6.611	0.21946	318	0.87072	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1555.43	34	chr11	118663125	.	C	T	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.064;DP=423;ExcessHet=0;FS=3.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-1.406;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1108	9	0	1	0
chr11	119073289	119073289	G	A	exonic	VPS11	.	nonsynonymous SNV	VPS11:NM_001290185:exon6:c.G946A:p.V316I,VPS11:NM_001378218:exon6:c.G988A:p.V330I,VPS11:NM_001378219:exon6:c.G976A:p.V326I,VPS11:NM_001378220:exon6:c.G976A:p.V326I,VPS11:NM_001378221:exon6:c.G958A:p.V320I,VPS11:NM_021729:exon6:c.G976A:p.V326I	Leukodystrophy, hypomyelinating, 12, Autosomal recessive	426	1093	3	0	0	3	0.00137049	.	.	.	2415612	Hypomyelinating_leukodystrophy_12	MONDO:MONDO:0014732,MedGen:C4225247,OMIM:616683,Orphanet:466934	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0178796306299	7.9e-05	.	4.238e-05	0	8.943e-05	0	0	6.123e-05	0	0	3.88e-05	6	154602	rs376381484	3.216e-05	3.215e-05	3.131e-05	3.301e-05	0.0005	2.478e-05	2.221e-05	0.0001	7.546e-05	0.0001	4.473e-05	0	0	0	0.0005	1.979e-05	0.0002	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.177	0.29740	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.063369185	0.08245	T	0.01788	0.39748	T	.	.	.	.	0.30921473904	0.30521	0.11080353352625819	0.11009	.	.	0.343970894814	0.17030	T	0.018137	0.14677	T	-0.349728	0.04744	T	-0.564289	0.15976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.04159	B	.;.	.;.	1.557905	0.19961	14.52	0.8597581680686267	0.16232	0.21319	0.21359	N	AEFDBI	0.078903	0.15928	N	.	.	.	.	.	.	0.532391348529885	0.21186	0.359288	0.05646	0	0.340432	0.05866	0	0.343423	0.05949	0	0.322829	0.05601	0	.	.	5.64	4.73	0.59485	0.644000	0.24455	1.105000	0.24105	-0.113000	0.14837	0.033000	0.20612	0.552000	0.25473	0.819000	0.38590	0.1463:0.0:0.8537:0.0	11.741	0.51059	231	0.90996	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1621.43	39	chr11	119073289	.	G	A	1621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=493;ExcessHet=0;FS=1.248;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.108;SOR=0.571	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1350	9	0	1	0
chr11	119182266	119182266	G	T	exonic	NLRX1	.	nonsynonymous SNV	NLRX1:NM_001282143:exon9:c.G2527T:p.A843S,NLRX1:NM_001282144:exon9:c.G2527T:p.A843S,NLRX1:NM_001282358:exon9:c.G2527T:p.A843S,NLRX1:NM_024618:exon9:c.G2527T:p.A843S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0098	0.00678914	0.0025	0.0277	0.0009	0	0.0003	0.0001	0	0.0001	0.0023738	367	154602	rs35500631	0.0009	0.0009	0.0011	0.0008	0.0301	0.0009	0.0009	0.0286	0.0279	0.0301	0.0012	0	0	0.0006	0.0012	0.0001	0.0018	6.957e-05	0.0086	0.0086	0.0089	0.0084	0.0303	0.0082	0.0081	0.0289	0.0284	0.0303	0	0.0018	0	0	0.0004	0.0034	0.0002	0.0038	0.0002	0.427	0.16793	T	0.065	0.46632	T	0.982	0.67487	D	0.612	0.63417	P	0.016834	0.27876	N	0.317611	0.999414	0.46970	D	1.79	0.46772	L	0.91	0.44856	T	0.19	0.06739	N	0.426	0.46835	-1.0572	0.12465	T	0.039	0.16978	T	10	0.011113942	0.00244	T	.	.	.	0.193	0.47281	.	.	0.663037096684	0.66020	0.4263396455440389	0.42550	0.517907946749	0.49658	0.574944376945	0.49375	T	0.072854	0.34555	T	-0.455941	0.01041	T	-0.404707	0.32837	T	0.0399175144686754	0.03674	T	0.882712	0.68253	D	0.24176867	0.47096	0.10004112	0.23906	0.24176867	0.47096	0.10004112	0.23905	-5.498	0.41849	T	.	.	0.395	0.59268	A	.;.;.;.;.	.;.;.;.;.	4.492239	0.70188	25.5	0.99678290252259971	0.79043	0.99173	0.92306	D	AEFDBI	0.914385	0.87767	D	0.298411110064751	0.56070	3.771092	0.379074603803132	0.60277	4.21344	0.999999999782423	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	4.52	4.52	0.54797	9.208000	0.94199	11.700000	0.94485	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	17.418	0.87399	277	0.89083	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	655.43	44	chr11	119182266	.	G	T	655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.477;SOR=0.765	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr11	119187454	119187454	C	A	exonic	PDZD3	.	nonsynonymous SNV	PDZD3:NM_001168468:exon5:c.C515A:p.T172N,PDZD3:NM_024791:exon5:c.C515A:p.T172N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	0.0110	0.00778754	0.0027	0.0291	0.0009	0	0.0003	0.0002	0	0.0001	0.0025679	397	154602	rs35242532	0.0010	0.0010	0.0011	0.0009	0.0321	0.0010	0.0009	0.0305	0.0299	0.0321	0.0012	0	0	0.0006	0.0019	0.0002	0.0020	6.958e-05	0.0093	0.0093	0.0094	0.0091	0.0325	0.0089	0.0087	0.0310	0.0304	0.0325	0	0.0018	0	0	0.0004	0.0034	0.0002	0.0052	0.0002	0.084	0.33585	T	0.014	0.63918	D	0.993	0.68779	D	0.904	0.70309	P	0.000812	0.41658	D	0.202828	0.878746	0.35707	D	0.77	0.19370	N	1.69	0.52187	T	-1.48	0.41618	N	0.38	0.56576	-0.8999	0.48003	T	0.054	0.22846	T	10	0.006141156	0.00138	T	.	.	.	0.083	0.24192	.	.	0.784388662207	0.78239	0.3888417659390704	0.38799	0.430905266619	0.43317	0.606872737408	0.53875	T	0.032145	0.22356	T	-0.520547	0.00437	T	-0.496131	0.22748	T	0.012155391151676	0.00194	T	0.715328	0.33695	T	0.13457203	0.31261	0.14084624	0.33561	0.13457203	0.31261	0.14084624	0.33560	-5.309	0.42499	T	.	.	0.173	0.39356	B	.;.;.;.	.;.;.;.	4.187241	0.63085	24.5	0.98979685390478178	0.49700	0.94430	0.61140	D	AEFDBI	0.614535	0.60182	D	0.356730001602604	0.59095	4.086313	0.36106927302626	0.59178	4.09345	0.357511182185412	0.19745	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	2.759000	0.47253	5.918000	0.51122	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.980000	0.58198	0.0:0.908:0.0:0.092	10.182	0.42151	312	0.87382	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1326.43	35	chr11	119187454	.	C	A	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.214;DP=432;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.492;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,949	9	0	1	0
chr11	119190421	119190421	C	T	exonic	CCDC153	.	nonsynonymous SNV	CCDC153:NM_001145018:exon7:c.G512A:p.R171K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00638779461552	.	.	8.242e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs777815339	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.797e-05	1.48e-06	9.7e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-07	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617	0.05357	T	0.415	0.14326	T	0.557	0.38282	P	0.215	0.37512	B	0.017998	0.27589	N	0.297762	1	0.08975	N	2.77	0.80896	M	1.72	0.26588	T	-0.72	0.20358	N	0.16	0.33796	-1.0559	0.12803	T	0.041	0.17615	T	10	0.1136159	0.21351	T	0.006388	0.16812	T	0.040	0.10527	0.202	0.11659	0.345632371893	0.34166	0.3217599585855418	0.32088	0.477844528706	0.46885	0.424387067556	0.28440	T	0.006599	0.06028	T	-0.278623	0.10813	T	-0.541145	0.18183	T	0.6346555352211	0.37812	D	0.534647	0.17878	T	0.052617397	0.09841	0.053464614	0.09011	0.052617397	0.09840	0.053464614	0.09010	-4.208	0.26867	T	.	.	0.130	0.28807	B	.;.	.;.	2.011801	0.25564	16.81	0.93680511851906367	0.23581	0.04307	0.09857	N	AEFDBI	0.143974	0.26682	N	-0.57369647748909	0.19747	1.035898	-0.62031000302723	0.18972	1.015856	0.00521236854290627	0.10865	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.68	2.68	0.30839	1.047000	0.29976	1.031000	0.23480	-0.176000	0.10722	0.172000	0.23960	0.317000	0.24303	0.068000	0.16518	0.0:0.4715:0.4294:0.0991	7.295	0.25561	324	0.86790	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	764.43	35	chr11	119190421	.	C	T	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.3;DP=380;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.075;SOR=0.536	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1356	9	0	1	0
chr11	119638802	119638802	C	T	exonic	NECTIN1	.	nonsynonymous SNV	NECTIN1:NM_203285:exon7:c.G1156A:p.D386N	Cleft lip/palate-ectodermal dysplasia syndrome, Autosomal recessive;Orofacial cleft 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	4021125	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.085	0.0352586530892	0.0010	0.00199681	0.0005	0.0043	0.0007	0	0.0005	9.219e-05	0	0	0.0004786	74	154602	rs143612966	0.0002	0.0002	0.0002	0.0002	0.0049	0.0002	0.0002	0.0043	0.0041	0.0049	0.0005	0	0	0.0007	0.0009	7.286e-05	0.0004	2.321e-05	0.0014	0.0014	0.0016	0.0012	0.0046	0.0013	0.0012	0.0040	0.0038	0.0046	0	0.0007	0	0.0002	0.0005	0.0034	0.0001	0.0009	0	0.177	0.22224	T	0.169	0.30534	T	0.487	0.36886	P	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	-1.16	0.78082	T	-0.26	0.11185	N	0.215	0.24010	-0.9259	0.44730	T	0.160	0.49497	T	9	0.0060114264	0.00135	T	0.035259	0.56225	D	0.085	0.24743	.	.	0.226560886239	0.22246	.	.	.	.	.	.	.	.	.	.	-0.542093	0.00326	T	-0.550777	0.17252	T	0.025888073429963	0.01391	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	-4.127	0.25687	T	.	.	0.091	0.13032	B	.	.	0.650395	0.10190	6.929	0.99223037172049855	0.55963	0.03825	0.09167	N	AEFDBI	0.028573	0.02542	N	-0.782071899232948	0.13776	0.6811973	-0.888033627704042	0.12377	0.6363074	0.107587679486631	0.16560	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.39	0.192	0.14415	0.499000	0.22254	-0.381000	0.09541	0.594000	0.32500	0.018000	0.19461	0.000000	0.08366	0.019000	0.11356	0.2001:0.4883:0.1949:0.1168	2.102	0.03458	860	0.33753	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	636.43	34	chr11	119638802	.	C	T	636.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.282;DP=378;ExcessHet=0;FS=0.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.681;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	120451539	120451539	C	T	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon21:c.C1814T:p.A605V,ARHGEF12:NM_001301084:exon22:c.C1562T:p.A521V,ARHGEF12:NM_015313:exon22:c.C1871T:p.A624V	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0138054211661	0.0002	0.00139776	0.0014	0.0002	0.0004	0	0	0.0002	0.0011	0.0086	0.0011902	184	154602	rs201274468	0.0007	0.0007	0.0004	0.0010	0.0086	0.0007	0.0006	0.0081	0.0079	8.961e-05	6.709e-05	0	0	1.872e-05	0.0005	0.0002	0.0009	0.0086	0.0004	0.0004	0.0003	0.0005	0.0085	0.0003	0.0003	0.0064	0.0057	0.0001	0	0	0	0	0	0	0.0002	0	0.0085	0.272	0.15930	T	0.651	0.15456	T	0.001	0.07471	B	0.001	0.04355	B	0.409676	0.04583	N	1.540210	0.999422	0.21681	N	0	0.06538	N	-0.2	0.66113	T	0.17	0.05125	N	0.073	0.07673	-1.0316	0.19937	T	0.111	0.39888	T	10	0.0042149425	0.00084	T	0.013805	0.33474	T	0.048	0.13305	.	.	0.318725805183	0.31479	0.16656245206819317	0.16576	0.533151611291	0.50754	0.346510648727	0.17407	T	0.024795	0.18667	T	-0.590381	0.00167	T	-0.61442	0.11628	T	0.0219358343950319	0.00901	T	0.79652	0.44234	T	0.016213274	0.00183	0.029784847	0.01355	0.016213274	0.00183	0.029784847	0.01355	-4.909	0.35836	T	.	.	0.081	0.08754	B	.;.;.	.;.;.	1.965970	0.24975	16.59	0.98595527475020373	0.43427	0.75589	0.37017	D	AEFBI	0.137643	0.25869	N	-0.636765583194839	0.17847	0.9218916	-0.48913636416502	0.22452	1.219547	0.80262754398883	0.24213	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	1.2	0.20181	0.962000	0.28877	1.803000	0.28899	0.549000	0.26987	0.961000	0.33663	0.877000	0.27660	0.989000	0.64315	0.3639:0.3732:0.0:0.2629	5.408	0.15630	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	4178.43	35	chr11	120451539	.	C	T	4178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.958;DP=618;ExcessHet=0;FS=0.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.17;QD=14.82;ReadPosRankSum=-0.433;SOR=0.76	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr11	120986219	120986219	C	A	exonic	GRIK4	.	nonsynonymous SNV	GRIK4:NM_001282470:exon20:c.C2830A:p.L944M,GRIK4:NM_014619:exon21:c.C2830A:p.L944M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0514768212205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.047e-07	2.736e-06	0	1.417e-06	1.192e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.192e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.039	0.51112	D	0.649	0.40609	P	0.421	0.45113	B	0.280227	0.14959	U	0.509177	0.832741	0.28738	N	1.39	0.34934	L	2.48	0.14657	T	-0.24	0.10833	N	0.273	0.30914	-1.0933	0.05005	T	0.028	0.12014	T	10	0.15741175	0.29625	T	0.051477	0.64676	D	0.072	0.21020	0.105	0.01753	0.20808081866	0.20439	0.1800520341291403	0.17924	0.498469256429	0.48318	0.771950542927	0.77718	T	0.053341	0.29417	T	-0.210716	0.19279	T	-0.540455	0.18250	T	0.906924486160278	0.56107	D	0.768523	0.39806	T	0.26345515	0.49410	0.2339239	0.48595	0.26345515	0.49410	0.2339239	0.48594	-5.882	0.45281	T	.	.	0.078	0.07937	B	.;.;.	.;.;.	4.013083	0.59222	24.1	0.99254430282163919	0.56989	0.55891	0.29978	D	ALL	0.291524	0.40263	N	0.0899535297210357	0.45994	2.846882	0.161744062743756	0.47768	3.00207	0.999997896971898	0.74766	0.443343	0.08805	1	0.606814	0.50340	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.49	3.56	0.39892	1.558000	0.35917	2.490000	0.32980	0.517000	0.23534	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.6872:0.0:0.3128	6.772	0.22783	715	0.56137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	525.43	34	chr11	120986219	.	C	A	525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.394;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.399;SOR=0.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,976:.	9	0	1	0
chr11	120986228	120986228	G	T	exonic	GRIK4	.	stopgain	GRIK4:NM_001282470:exon20:c.G2839T:p.E947X,GRIK4:NM_014619:exon21:c.G2839T:p.E947X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056247	0.22575	N	0.415989	0.999986	0.54805	D	.	.	.	.	.	.	.	.	.	0.456	0.51405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539151	0.95413	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive	High;.;High	10.449476	0.99748	47	0.99627768604403555	0.75837	0.97106	0.72724	D	ALL	0.260994	0.37904	N	0.976456809549024	0.94974	13.19874	0.784202489935734	0.88672	9.671595	0.99999999615992	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.56751	0.32155	0	.	.	4.49	3.57	0.40014	8.831000	0.91684	9.790000	0.81641	0.582000	0.30178	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0879:0.0:0.9121:0.0	11.705	0.50858	715	0.56137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	525.43	34	chr11	120986228	.	G	T	525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.214;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.235;SOR=0.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,976:.	9	0	1	0
chr11	121152938	121152938	G	A	exonic	TBCEL-TECTA;TECTA	.	nonsynonymous SNV	TECTA:NM_005422:exon13:c.G4163A:p.R1388H,TBCEL-TECTA:NM_001378761:exon19:c.G5120A:p.R1707H	.	0	1512	10	0	0	10	0.00329598	.	.	YES	859843	Autosomal_recessive_nonsyndromic_hearing_loss_21|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.483	0.071028903809	0.0002	.	0.0004	0	0.0003	0	0	0.0003	0	0.0014	0.0002911	45	154602	rs150016625	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0002	0.0036	0.0031	2.989e-05	0.0003	7.655e-05	0	0	0.0050	0.0001	0.0003	0.0015	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0001	0	0	0	0	0.0002	0.0009	0.0019	0.03	0.45393	D	0.018	0.59732	D	0.998	0.73220	D	0.862	0.61339	P	0.000070	0.52346	D	0.137802	0.994366	0.42255	D	0.895	0.22405	L	-2.72	0.90622	D	-0.85	0.23156	N	0.573	0.59563	0.542	0.91124	D	0.738	0.91055	D	10	0.19787249	0.35734	T	0.071029	0.71161	D	0.483	0.77271	.	.	0.921470471804	0.92067	0.5787082235357279	0.57799	1.09109443425	0.77432	0.469296038151	0.34583	T	0.243802	0.61280	T	-0.223945	0.17457	T	-0.113472	0.62334	T	0.118888445198536	0.14322	T	0.956904	0.83579	D	0.11278217	0.26641	0.096249856	0.22863	0.12854354	0.30048	0.081098385	0.18402	-5.141	0.38336	T	0.4168107422910662	0.50620	0.174	0.43032	B	.;.;.	.;.;.	5.315137	0.89222	29.9	0.99950758448353183	0.99944	0.95063	0.63303	D	AEFDBI	0.692793	0.65233	D	0.562118947448964	0.70825	5.558469	0.59295679253822	0.74433	6.136345	0.994822726774851	0.33818	0.487112	0.14033	0	0.563428	0.19063	0	8.03E-4	0.00125	3	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	4.568000	0.60573	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.025	0.92908	764	0.49969	Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain;Trypsin Inhibitor-like, cysteine rich domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	3696.12	38	chr11	121152938	.	G	A	3696.12	.	AC=2;AF=0.1;AN=20;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.32;SOR=0.727	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1200	9	1	0	0
chr11	123805623	123805623	T	A	exonic	OR6M1	.	nonsynonymous SNV	OR6M1:NM_001005325:exon1:c.A727T:p.T243S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0151239336505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.999	0.77913	D	0.99	0.78936	D	0.004159	0.34057	U	0.000000	0.999789	0.20372	N	2	0.54354	M	1.15	0.38236	T	-2.36	0.52128	N	0.227	0.25499	-0.9941	0.31538	T	0.156	0.48807	T	10	0.23585615	0.40655	T	0.015124	0.35666	T	0.075	0.21907	0.524	0.62818	0.527809512145	0.52428	0.07136914351299034	0.07073	0.174577858739	0.19662	0.211207464337	0.00863	T	0.009479	0.08629	T	-0.187791	0.22584	T	-0.507525	0.21570	T	0.596850633621216	0.36276	D	0.623938	0.24053	T	0.33876294	0.56181	0.33182788	0.59038	0.33876294	0.56181	0.33182788	0.59037	-6.422	0.49681	T	.	.	0.214	0.44280	B	.	.	2.863411	0.37839	20.6	0.98522210707192792	0.42483	0.13334	0.17797	N	AEFBI	0.065622	0.12810	N	-0.194168741112412	0.33377	1.892876	-0.442131711860865	0.23773	1.298197	4.92793737510966E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	2.34	0.28071	0.062000	0.14264	-0.042000	0.12656	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.881000	0.42162	0.0:0.1223:0.0:0.8777	6.566	0.21709	718	0.55760	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1543.43	100	chr11	123805623	.	T	A	1543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=514;ExcessHet=0;FS=0.683;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.83;SOR=0.622	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,119,1346	9	0	1	0
chr11	124023058	124023058	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C46T:p.P16S	.	424	1074	23	1	0	25	0.0115048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0016	0.00359425	0.0035	0	0.0012	0	0	0.0031	0.0055	0.0121	0.0030207	467	154602	rs141446565	0.0024	0.0024	0.0021	0.0028	0.0106	0.0024	0.0024	0.0101	0.0098	0.0003	0.0013	0.0277	0	0	0.0066	0.0014	0.0037	0.0106	0.0017	0.0017	0.0014	0.0020	0.0108	0.0015	0.0014	0.0084	0.0076	0.0003	0	0.0010	0.0230	0	0	0.0034	0.0013	0.0019	0.0108	0.37	0.11550	T	0.715	0.05434	T	0.078	0.24389	B	0.164	0.34953	B	0.004593	0.33588	N	0.136740	0.746328	0.29683	N	-0.165	0.04321	N	7.46	0.00389	T	-1.2	0.30555	N	0.076	0.05037	-1.0218	0.23129	T	0.000	0.00152	T	10	0.0073650777	0.00167	T	.	.	.	0.062	0.17934	.	.	0.143124449307	0.13826	0.16278654458662975	0.16198	0.425027138028	0.42916	0.216108947992	0.01097	T	0.003	0.02708	T	-0.59376	0.00159	T	-0.616277	0.11480	T	0.0144571563771254	0.00292	T	0.227177	0.03016	T	0.04062003	0.05833	0.050784115	0.08042	0.04062003	0.05833	0.050784115	0.08042	-2.928	0.09426	T	.	.	0.144	0.31733	B	.	.	1.536149	0.19703	14.40	0.50710633347697687	0.04432	0.16363	0.19354	N	AEFI	0.081623	0.16518	N	-1.16447645677521	0.05545	0.2530935	-1.11774098304783	0.07361	0.3577643	1.20610408998942E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.33	2.41	0.28644	-0.247000	0.08884	-5.208000	0.01806	0.596000	0.33519	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.5946:0.2816:0.1238	5.317	0.15167	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004343	0.005435	0.002717	0.000000	0.000000	0.000000	0.006369	0.019685	0.05	3012.43	54	chr11	124023058	.	C	T	3012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.325;DP=701;ExcessHet=0;FS=1.973;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.88;MQRankSum=1.33;QD=10.5;ReadPosRankSum=0.986;SOR=0.583	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr11	124023688	124023688	C	T	exonic	OR10G9	.	nonsynonymous SNV	OR10G9:NM_001001953:exon1:c.C676T:p.R226W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00181638638885	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs770016884	1.026e-05	1.026e-05	8.168e-06	1.238e-05	5.797e-05	6.16e-06	4.89e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	8.993e-06	0	5.797e-05	6.577e-06	6.565e-06	1.287e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.832	0.59730	P	0.627629	0.10718	N	0.805161	1	0.08975	N	3.655	0.94224	H	8.37	0.00247	T	-5.79	0.88065	D	0.266	0.30118	-0.9544	0.40203	T	0.002	0.00585	T	10	0.28207338	0.45786	T	0.001816	0.03115	T	0.070	0.20419	0.432	0.48171	0.652918622136	0.65003	0.3873138145812285	0.38646	0.909016350626	0.70977	0.186228781939	0.00165	T	0.009129	0.08331	T	-0.28781	0.09858	T	-0.448541	0.27859	T	0.699711727448611	0.40705	D	0.367163	0.08573	T	0.23927706	0.46816	0.2424058	0.49661	0.23927706	0.46816	0.2424058	0.49660	-7.049	0.54390	T	.	.	0.178	0.38889	B	.	.	2.986991	0.39860	21.1	0.99727385111650657	0.82477	0.07250	0.13273	N	AEFDI	0.097194	0.19607	N	-0.084404063653568	0.38076	2.224597	-0.312471543910937	0.27695	1.538649	2.99771349585806E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.44	2.3	0.27735	-0.031000	0.12237	-2.091000	0.04227	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.8014:0.1986:0.0:0.0	9.014	0.35321	810	0.42761	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4091.43	48	chr11	124023688	.	C	T	4091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=1588;ExcessHet=0;FS=1.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=-1.055;QD=12.18;ReadPosRankSum=-0.469;SOR=0.793	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,102,1530	9	0	1	0
chr11	124225357	124225357	C	T	exonic	OR8G2P	.	nonsynonymous SNV	OR8G2P:NM_001291438:exon1:c.C665T:p.T222M	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0003	0.0003	0.0002	0.0017	0	0.0001	0	0.0005	0.0005763	15	26028	rs186627433	0.0001	0.0001	8.328e-05	0.0001	0.0005	8.738e-05	8.224e-05	0.0004	0.0004	3e-05	4.483e-05	0	0.0005	0	0.0002	5.409e-05	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0001	0.0016	0.0013	0.0001	0	6.535e-05	0	0.0027	0	0.0034	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.05	614.43	220	chr11	124225357	.	C	T	614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.89;DP=1562;ExcessHet=0;FS=11.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.23;MQRankSum=-5.753;QD=3.79;ReadPosRankSum=-1.092;SOR=1.708	GT:AD:DP:GQ:PL	0/0:196,0:196:99:0,120,1800	9	0	1	0
chr11	124250540	124250540	-	GCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	exonic	OR8G1	.	stopgain	OR8G1:NM_001002905:exon1:c.865_866insGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC:p.I289Sfs*6	.	812	661	1	2	46	51	0.0037679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0012	0.0013	0.0014	0.0268	0.0013	0.0013	0.0228	0.0213	0.0010	0.0002	0.0004	0.0009	0.0180	0.0268	0.0004	0.0007	0.0024	0.0042	0.0044	0.0039	0.0046	0.0058	0.0039	0.0038	0.0039	0.0038	0.0046	0.0049	0.0034	0.0030	0.0033	0.0029	0.0212	0.0044	0.0045	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	2253.74	.	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	2253.74	.	AC=2;AF=0.2;AN=10;DP=470;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.3;MQ=60;QD=31.08;SOR=2.97	GT:AD:DP:GQ:PL	0/0:151,0:151:99:0,120,1800	4	1	0	5
chr11	124319731	124319731	G	A	exonic	OR8D2	.	nonsynonymous SNV	OR8D2:NM_001002918:exon1:c.C467T:p.A156V	.	426	1088	8	0	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	.	0.0071885	0.0037	0	0.0002	0	0	0	0	0.0273	0.0032665	505	154602	rs201214294	0.0016	0.0016	0.0009	0.0024	0.0257	0.0016	0.0015	0.0248	0.0244	2.988e-05	2.239e-05	0	2.524e-05	0	0.0016	1.349e-05	0.0018	0.0257	0.0009	0.0009	0.0005	0.0012	0.0266	0.0007	0.0007	0.0229	0.0214	4.816e-05	0	6.553e-05	0	0	0	0	1.471e-05	0	0.0266	.	.	.	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000292	0.46274	D	0.000000	0.927639	0.27140	N	2.42	0.70002	M	.	.	.	.	.	.	.	.	-0.7265	0.59140	T	0.253	0.62269	T	10	0.0046641827	0.00098	T	.	.	.	.	.	.	.	.	.	0.1851852009963729	0.18436	.	.	0.260416209698	0.04940	T	0.011045	0.09905	T	-0.49627	0.00600	T	-0.465362	0.26018	T	0.121152991702756	0.14542	T	0.210579	0.02543	T	0.30802992	0.53615	0.3781054	0.62895	0.30802992	0.53615	0.3781054	0.62895	-8.036	0.61316	D	.	.	0.167	0.36791	B	.	.	2.357606	0.30237	18.37	0.99866306287457152	0.94457	0.15121	0.18754	N	AEFBI	0.059870	0.11339	N	0.110428578715842	0.46948	2.927542	-0.101194201712346	0.35343	2.043584	0.00777910455358787	0.11541	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.73	3.73	0.41982	1.421000	0.34423	.	.	0.630000	0.51874	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	16.553	0.84325	842	0.36989	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	1900.43	94	chr11	124319731	.	G	A	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.096;DP=731;ExcessHet=0;FS=4.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.064;SOR=0.735	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr11	124440622	124440622	C	T	exonic	OR8B8	.	nonsynonymous SNV	OR8B8:NM_012378:exon1:c.G464A:p.G155E	.	424	1062	34	2	0	38	0.0175763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00438921995786	0.0021	0.000998403	0.0028	0.0002	0.0010	0	0.0002	0.0026	0.0077	0.0085	0.0024644	381	154602	rs140865479	0.0024	0.0024	0.0022	0.0026	0.0094	0.0023	0.0023	0.0078	0.0076	0.0004	0.0015	0.0113	0	1.872e-05	0.0094	0.0020	0.0029	0.0083	0.0020	0.0020	0.0020	0.0021	0.0064	0.0018	0.0018	0.0047	0.0041	0.0004	0	0.0030	0.0127	0	9.425e-05	0	0.0024	0.0028	0.0064	0.065	0.36310	T	0.106	0.37872	T	0.848	0.46844	P	0.651	0.52497	P	0.031170	0.25205	N	0.280453	1	0.08975	N	1.46	0.36832	L	1.21	0.37230	T	-5.93	0.89029	D	0.161	0.16864	-0.9993	0.30115	T	0.113	0.40354	T	10	0.008491397	0.00192	T	0.004389	0.10718	T	0.135	0.36572	.	.	0.667980572847	0.66518	0.6225345544862408	0.62186	0.0525529913828	0.05790	0.266837418079	0.05732	T	0.019694	0.15640	T	-0.446841	0.01179	T	-0.408376	0.32412	T	0.0992580273878766	0.12276	T	0.412859	0.10744	T	0.35347536	0.57336	0.3822487	0.63215	0.35347536	0.57337	0.3822487	0.63215	-7.199	0.55474	T	.	.	0.447	0.62038	A	.;.	.;.	4.085704	0.60807	24.3	0.99434978174576394	0.64472	0.08460	0.14386	N	AEFBCI	0.068063	0.13408	N	0.101083701202438	0.46514	2.890536	0.0160951037361045	0.40462	2.415092	0.999707412909964	0.41986	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.52	3.52	0.39415	0.418000	0.20950	.	.	0.599000	0.40250	0.001000	0.13787	0.206000	0.23607	0.974000	0.55675	0.0:0.7221:0.0:0.2779	4.610	0.11784	769	0.49307	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.008152	0.005848	0.000000	0.017241	0.012195	0.007576	0.05	2327.43	33	chr11	124440622	.	C	T	2327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.134;DP=490;ExcessHet=0;FS=1.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=1.04;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	9	0	1	0
chr11	124543040	124543040	G	C	exonic	OR8B12	.	nonsynonymous SNV	OR8B12:NM_001005195:exon1:c.C615G:p.D205E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00184584322732	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776638132	5.473e-06	5.472e-06	5.445e-06	5.501e-06	0.0002	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	4.497e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.033	0.53072	D	0.062	0.23277	B	0.101	0.30765	B	0.024590	0.26236	N	0.323408	1	0.08975	N	0.205	0.09354	N	8.76	0.00070	T	-1.62	0.38924	N	0.171	0.18239	-0.9891	0.32828	T	0.000	0.00114	T	10	0.08544126	0.14424	T	0.001846	0.03193	T	0.013	0.01715	0.466	0.53729	0.128392430309	0.12331	0.6580323841298963	0.65740	0.0639304449626	0.07121	0.218791753054	0.01241	T	0.005764	0.05208	T	-0.417482	0.01775	T	-0.736831	0.04025	T	0.0855723118178133	0.10684	T	0.744825	0.36507	T	0.17976373	0.39063	0.112834685	0.27227	0.17976373	0.39063	0.112834685	0.27226	-6.502	0.50302	T	.	.	0.206	0.43172	B	.	.	0.857622	0.12299	8.840	0.8807296924377207	0.17696	0.07108	0.13134	N	AEFDBI	0.119957	0.23390	N	-1.23619717166151	0.04485	0.2025127	-1.30939914705825	0.04307	0.2029078	6.04525235837834E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	-1.24	0.08948	-0.834000	0.04498	.	.	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.547:0.0:0.453:0.0	9.055	0.35562	627	0.65350	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2095.43	33	chr11	124543040	.	G	C	2095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=495;ExcessHet=0;FS=1.183;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.952;SOR=0.83	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	9	0	1	0
chr11	124638727	124638727	G	C	exonic	SIAE	.	nonsynonymous SNV	SIAE:NM_170601:exon9:c.C1135G:p.R379G,SIAE:NM_001199922:exon11:c.C1030G:p.R344G	.	.	.	.	.	.	.	.	.	.	.	752506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.698	0.192676062524	.	0.00159744	0.0007	0	0	0	0	4.517e-05	0.0022	0.0046	0.0005757	89	154602	rs200445560	0.0003	0.0003	0.0001	0.0005	0.0043	0.0003	0.0003	0.0040	0.0038	0	0	3.826e-05	0	0	0	5.216e-05	0.0002	0.0043	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	9.696e-05	0.0031	0.0026	0	0	6.538e-05	0	0	0	0	1.47e-05	0.0005	0.0046	0.002	0.72154	D	0.016	0.65728	D	0.951	0.53992	P	0.708	0.54437	P	0.000076	0.52346	D	0.121669	0.972911	0.38983	D	2.655	0.77738	M	-3.48	0.94584	D	-5.93	0.89029	D	0.711	0.71410	0.705	0.93234	D	0.833	0.94415	D	10	0.016949564	0.00359	T	0.192676	0.86258	D	0.698	0.89099	0.464	0.53404	0.769499545295	0.76738	0.8620605466665517	0.86170	0.689936938036	0.60511	0.614953637123	0.55016	T	0.869589	0.97172	D	0.00347425	0.52133	T	0.232755	0.84805	D	0.196828889016041	0.20239	T	0.89491	0.63503	D	0.8056902	0.84272	0.7819869	0.87151	0.7909152	0.83332	0.76750654	0.86270	-13.421	0.91023	D	.	.	0.664	0.71501	P	.;.;.	.;.;.	4.019156	0.59351	24.1	0.99798977857573223	0.88372	0.68706	0.33904	D	AEFDBHCI	0.257039	0.37585	N	0.323485759339052	0.57354	3.902602	0.288715131746288	0.54880	3.651797	0.999867387770669	0.44398	0.732398	0.92422	0	0.708844	0.79440	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.44	3.32	0.37134	0.995000	0.29307	.	.	0.676000	0.76740	0.966000	0.33990	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.5737:0.4263	12.558	0.55615	623	0.65786	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001009	0.000000	0.000000	0.002941	0.000000	0.000000	0.003067	0.000000	0.05	983.43	34	chr11	124638727	.	G	C	983.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.621;DP=376;ExcessHet=0;FS=3.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=-0.901;SOR=0.322	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	9	0	1	0
chr11	124992653	124992653	C	G	exonic	CCDC15	.	nonsynonymous SNV	CCDC15:NM_025004:exon10:c.C2105G:p.P702R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00793098233453	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245621565	6.928e-07	1.368e-06	1.375e-06	0	9.075e-07	0	0	.	.	0	0	0	0	0	0	9.075e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.278	0.21812	T	0.186	0.29254	B	0.085	0.29395	B	0.624679	0.05777	N	1.260260	1	0.08975	N	2.065	0.56745	M	1.16	0.38073	T	-3.34	0.66325	D	0.196	0.35727	-1.0012	0.29574	T	0.086	0.33438	T	10	0.119220555	0.22557	T	0.007931	0.21033	T	0.041	0.10877	0.348	0.34436	0.132336055621	0.12781	0.07785713229279213	0.07721	0.0189563370722	0.01848	0.305955171585	0.11296	T	0.252756	0.62319	T	-0.20405	0.20222	T	-0.53088	0.19199	T	0.232007473707199	0.22047	T	0.482252	0.14601	T	0.26764494	0.49837	0.22405389	0.47305	0.26764494	0.49837	0.22405389	0.47304	-6.49	0.50209	T	.	.	0.161	0.39356	B	.;.	.;.	2.313833	0.29619	18.18	0.98457539918603998	0.41699	0.13511	0.17898	N	AEFBI	0.045554	0.07462	N	-0.774328018900953	0.13982	0.692845	-0.846938886432282	0.13361	0.6927078	5.13494702453651E-4	0.07201	0.638212	0.43195	0	0.588066	0.40923	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	4.69	1.7	0.23359	0.227000	0.17575	.	.	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.088000	0.17685	0.3432:0.4908:0.1659:0.0	7.439	0.26342	898	0.25240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	795.43	44	chr11	124992653	.	C	G	795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.028;DP=429;ExcessHet=0;FS=1.894;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.589;SOR=0.766	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr11	125038597	125038597	T	C	exonic	CCDC15	.	nonsynonymous SNV	CCDC15:NM_025004:exon14:c.T2578C:p.Y860H	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00509735738192	.	0.000199681	0.0002	0	0	0	0	0	0	0.0011	5.82e-05	9	154602	rs577531347	3.983e-05	4.036e-05	2.112e-05	5.895e-05	0.0004	3.146e-05	2.827e-05	0.0003	0.0003	0	9.235e-05	0	0	0	0.0004	1.103e-05	8.595e-05	0.0004	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.023	0.48186	D	0.032	0.53426	D	0.009	0.15093	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	1.41	0.34253	T	-2.05	0.54382	N	0.101	0.09349	-1.0058	0.28216	T	0.066	0.27225	T	9	0.009868711	0.00221	T	0.005097	0.12939	T	0.017	0.02790	0.226	0.15109	0.0482279557977	0.04254	0.13945202244579466	0.13868	0.0189071063277	0.01841	0.296992242336	0.09954	T	0.037496	0.24497	T	-0.459417	0.00991	T	-0.559305	0.16442	T	0.019249812088643	0.00631	T	0.352865	0.20563	T	0.4605496	0.64705	0.28634945	0.54643	0.4605496	0.64706	0.28634945	0.54642	-3.663	0.18773	T	.	.	0.375	0.59319	A	.;.	.;.	1.664173	0.21222	15.10	0.9818263857019579	0.38958	0.02750	0.07434	N	AEFBI	0.049368	0.08522	N	-0.870495372090006	0.11549	0.5579341	-0.905028316472498	0.11975	0.6133392	0.0219314727171202	0.13390	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	-1.64	0.07874	-0.267000	0.08648	.	.	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.1294:0.2722:0.0:0.5983	4.881	0.13037	857	0.34089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1165.43	40	chr11	125038597	.	T	C	1165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.751;DP=418;ExcessHet=0;FS=1.663;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.2;SOR=0.502	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	9	0	1	0
chr11	125367939	125367939	A	C	exonic	PKNOX2	.	nonsynonymous SNV	PKNOX2:NM_001382329:exon3:c.A94C:p.I32L,PKNOX2:NM_001382330:exon3:c.A94C:p.I32L,PKNOX2:NM_001382337:exon3:c.A94C:p.I32L,PKNOX2:NM_001382338:exon3:c.A94C:p.I32L,PKNOX2:NM_001382325:exon4:c.A181C:p.I61L,PKNOX2:NM_001382327:exon4:c.A181C:p.I61L,PKNOX2:NM_001382332:exon4:c.A94C:p.I32L,PKNOX2:NM_001382335:exon4:c.A181C:p.I61L,PKNOX2:NM_001382336:exon4:c.A94C:p.I32L,PKNOX2:NM_001382323:exon5:c.A181C:p.I61L,PKNOX2:NM_001382326:exon5:c.A181C:p.I61L,PKNOX2:NM_001382331:exon5:c.A94C:p.I32L,PKNOX2:NM_001382333:exon5:c.A94C:p.I32L,PKNOX2:NM_001382334:exon5:c.A181C:p.I61L,PKNOX2:NM_001382339:exon5:c.A181C:p.I61L,PKNOX2:NM_001382341:exon5:c.A181C:p.I61L,PKNOX2:NM_001382324:exon6:c.A181C:p.I61L,PKNOX2:NM_001382328:exon6:c.A181C:p.I61L	.	411	1109	2	0	0	2	0.000900901	.	.	.	2284655	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00593658084169	0.0002	0.000599042	0.0003	0	0.0002	0.0009	0	0.0001	0.0022	0.0012	0.0002717	42	154602	rs201213983	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0011	0.0008	0.0002	0	0	0.0004	0	0.0019	5.847e-05	0.0002	0.0009	0.0001	0.0001	9.001e-05	0.0002	0.0012	9.746e-05	8.26e-05	0.0005	0.0004	9.629e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0012	0.904	0.16903	T	0.785	0.18286	T	0.0	0.02946	B	0.0	0.01387	B	0.000427	0.44522	D	0.193513	0.993964	0.81001	D	-1.735	0.00332	N	0.75	0.50192	T	0.12	0.12099	N	0.197	0.21710	-1.0300	0.20454	T	0.046	0.19599	T	10	0.009838104	0.00221	T	0.005937	0.15490	T	0.082	0.23913	.	.	0.357212565759	0.35331	0.125135820270153	0.12439	0.300224283399	0.32383	0.471903681755	0.34942	T	0.008627	0.07910	T	-0.483177	0.00709	T	-0.517268	0.20572	T	0.0265109460307045	0.01476	T	0.724128	0.33779	T	0.06952641	0.15238	0.08300574	0.18989	0.06952641	0.15238	0.08300574	0.18989	-2.626	0.06703	T	.	.	0.058	0.00658	B	.;.	.;.	1.381102	0.17928	13.45	0.91099125109790624	0.20352	0.70997	0.34825	D	AEFBI	0.357145	0.44828	N	-0.46722235497948	0.23160	1.241773	-0.172991726160788	0.32534	1.851885	0.999993482060888	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	2.618000	0.46058	3.516000	0.38871	0.756000	0.94297	0.999000	0.42656	0.997000	0.33255	0.996000	0.76049	1.0:0.0:0.0:0.0	14.576	0.67840	548	0.72362	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	779.43	35	chr11	125367939	.	A	C	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.683;DP=381;ExcessHet=0;FS=0.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.288;SOR=0.501	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1103	9	0	1	0
chr11	125789425	125789425	C	A	exonic	PATE3	.	nonsynonymous SNV	PATE3:NM_001129883:exon2:c.C89A:p.T30K	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0018	.	0.0016	0.0005	0	0	0	0.0030	0.0105	0.0005	0.0004786	74	154602	rs1025165	0.0020	0.0019	0.0020	0.0020	0.0022	0.0019	0.0019	0.0021	0.0021	0.0003	0.0013	0.0066	2.798e-05	0.0003	0.0014	0.0022	0.0025	0.0004	0.0014	0.0014	0.0013	0.0014	0.0020	0.0012	0.0011	0.0016	0.0015	0.0005	0	0.0020	0.0063	0	0.0002	0	0.0018	0.0019	0.0002	0.143	0.25355	T	0.017	0.60337	D	0.815	0.45525	P	0.413	0.44885	B	.	.	.	.	1	0.08975	N	.	.	.	2.0	0.21473	T	-1.76	0.41618	N	0.386	0.42737	-1.0332	0.19427	T	0.039	0.16978	T	8	0.005534947	0.00122	T	.	.	.	0.063	0.18251	.	.	0.0138822411134	0.00435	0.5782459023667258	0.57753	.	.	0.32882463932	0.14757	T	0.027932	0.20347	T	-0.600508	0.00145	T	-0.639043	0.09738	T	0.0422714662416675	0.04105	T	0.392661	0.09777	T	0.065341525	0.13955	0.09317297	0.21994	0.065341525	0.13954	0.09317297	0.21993	-4.715	0.33585	T	.	.	0.36	0.57211	A	.	.	0.388653	0.07604	4.263	0.82566643154995101	0.14259	0.02329	0.06667	N	AEFI	0.029359	0.02755	N	-0.773703332468578	0.13998	0.6937829	-0.958579960447684	0.10725	0.5419908	1.79852864752148E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	-0.804	0.10333	-0.409000	0.07223	-0.184000	0.11104	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.4835:0.0:0.5165	7.049	0.24242	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1429.43	64	chr11	125789425	.	C	A	1429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=479;ExcessHet=0;FS=4.073;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.122;SOR=0.567	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	9	0	1	0
chr11	125918640	125918640	G	A	exonic	DDX25	.	nonsynonymous SNV	DDX25:NM_001330438:exon10:c.G709A:p.A237T,DDX25:NM_013264:exon10:c.G1051A:p.A351T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.00476149871992	.	.	8.31e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs746630800	6.159e-06	6.84e-06	2.723e-06	9.631e-06	2.988e-05	2.9e-06	2.1e-06	3.1e-06	2.24e-06	2.988e-05	0	0	0	0	0	7.197e-06	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.987	0.77487	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.475	0.37068	L	3.29	0.06445	T	-3.75	0.71157	D	0.895	0.89465	-1.2107	0.00086	T	0.056	0.23753	T	10	0.87938786	0.87243	D	0.004761	0.11879	T	0.441	0.74447	0.755	0.88484	0.524428966543	0.52088	0.6282017345278916	0.62753	0.667035260848	0.59225	0.613000810146	0.54740	T	0.737249	0.92693	D	-0.00428222	0.51063	T	-0.0182258	0.69146	D	0.95899224281311	0.65417	D	0.836716	0.52437	T	0.7629268	0.81626	0.67757016	0.81063	0.7629268	0.81628	0.67757016	0.81063	-7.952	0.61912	D	.	.	0.356	0.61847	A	.;.;.	.;.;.	4.526032	0.71002	25.6	0.95517154907396951	0.27129	0.98530	0.83766	D	AEFDGBHCI	0.893232	0.83097	D	0.754598259381209	0.83204	7.956499	0.715818517764369	0.83578	8.059104	0.99999999999989	0.74766	0.631981	0.41245	0	0.563428	0.19063	0	0.779548	0.98927	0	0.542086	0.14980	0	.	.	5.5	5.5	0.81386	9.457000	0.96793	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.449000	0.27873	0.0:0.0:1.0:0.0	18.166	0.89659	816	0.41767	.;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	713.43	34	chr11	125918640	.	G	A	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=389;ExcessHet=0;FS=2.106;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.119;SOR=1.05	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1201	9	0	1	0
chr11	125951954	125951954	G	A	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon6:c.G1376A:p.S459N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08784044	0.15067	T	.	.	.	.	.	.	.	.	.	0.08319747060249075	0.08253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375962	0.08979	T	0.025755102	0.01550	0.06863302	0.14357	0.025755102	0.01550	0.06863302	0.14357	-4.718	0.33622	T	.	.	0.111	0.21691	B	.;.	.;.	-0.077322	0.03778	0.793	0.82676063120352972	0.14316	0.07089	0.13115	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999884037004788	0.44867	0.053691	0.00478	0	0.063388	0.01293	0	0.044551	0.00207	1	0.062806	0.01542	0	0.212334	0.31030	4.64	-4.61	0.03139	-0.348000	0.07789	0.865000	0.22263	0.676000	0.76740	0.000000	0.06391	0.002000	0.18203	0.189000	0.21571	0.2528:0.2397:0.2504:0.2571	0.211	0.00145	852	0.35056	Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	35.6	2	chr11	125951954	.	G	A	35.6	.	AC=2;AF=0.143;AN=14;DP=20;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=17.8;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,70	6	1	0	3
chr11	126017171	126017171	G	A	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon6:c.C845T:p.P282L,CDON:NM_001378964:exon6:c.C845T:p.P282L,CDON:NM_016952:exon6:c.C845T:p.P282L	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1521	1	0	0	1	0.000328623	.	.	.	3293103	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0208361796608	.	.	2.472e-05	0	8.654e-05	0	0	1.499e-05	0	6.058e-05	1.94e-05	3	154602	rs201323548	2.052e-05	2.052e-05	2.314e-05	1.788e-05	8.944e-05	1.456e-05	1.264e-05	2.985e-05	1.804e-05	2.987e-05	8.944e-05	0	2.519e-05	0	0	1.529e-05	3.312e-05	5.797e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	2.407e-05	8.14e-06	5.14e-06	.	.	2.407e-05	0	0	0	0	9.43e-05	0	0	0.0009	0	0.126	0.27194	T	0.203	0.27503	T	0.122	0.26746	B	0.027	0.21085	B	0.001893	0.37740	N	0.120313	0.999988	0.18198	N	0.69	0.16971	N	-0.58	0.71425	T	-3.64	0.69835	D	0.18	0.19459	-0.9918	0.32141	T	0.173	0.51627	T	10	0.113428384	0.21309	T	0.020836	0.43511	T	0.099	0.28413	0.496	0.58520	0.650830185303	0.64793	0.6521839635036739	0.65154	0.103124469384	0.11663	0.337266504765	0.16029	T	0.416323	0.76931	T	-0.219942	0.18002	T	-0.356737	0.38430	T	0.0845714285969734	0.10561	T	0.714229	0.32652	T	0.061089486	0.12611	0.05664962	0.10158	0.061089486	0.12611	0.05664962	0.10158	-3.619	0.18132	T	0.12481030839808226	0.12307	0.237	0.47061	B	.;.	.;.	2.652077	0.34532	19.65	0.69643055777268725	0.09038	0.20715	0.21142	N	AEFBI	0.159244	0.28501	N	-0.924441699255041	0.10273	0.4900926	-0.90441079435426	0.11990	0.6141796	6.060656882533E-4	0.07437	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.06	3.17	0.35510	1.724000	0.37685	6.718000	0.56421	-0.106000	0.15538	0.019000	0.19563	1.000000	0.68203	0.052000	0.15357	0.1476:0.1356:0.7168:0.0	7.527	0.26832	859	0.33891	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1444.43	36	chr11	126017171	.	G	A	1444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.802;DP=432;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.63;SOR=0.824	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	9	0	1	0
chr11	126267701	126267701	C	G	exonic	SRPRA	.	nonsynonymous SNV	SRPRA:NM_001177842:exon2:c.G129C:p.Q43H,SRPRA:NM_003139:exon3:c.G213C:p.Q71H	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0554000598591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000009	0.62929	D	0.113557	1	0.81001	D	.	.	.	.	.	.	-4.83	0.80943	D	0.895	0.89465	-0.5566	0.66534	T	0.341	0.70688	T	9	0.88804483	0.88138	D	0.055	0.66222	D	0.359	0.67962	0.826	0.93721	0.248133497653	0.24425	0.9319651819774726	0.93175	1.17131033113	0.79773	0.878252387047	0.93724	D	0.529664	0.83701	D	0.207965	0.74639	D	0.0609504	0.74308	D	0.986816585063934	0.77442	D	0.959404	0.84692	D	0.81731313	0.85039	0.49502134	0.70795	0.81731313	0.85041	0.49502134	0.70795	-9.462	0.70622	D	.	.	0.963	0.92555	P	.;.	.;.	3.617126	0.51171	23.1	0.97650591795001196	0.35137	0.88304	0.48171	D	AEFDGBHCI	0.515932	0.54268	D	-0.208986728233915	0.32765	1.851475	-0.382737499028826	0.25512	1.403422	0.999999746284059	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	4.24	0.115	0.13949	0.903000	0.28101	2.653000	0.33829	-0.266000	0.06809	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1437:0.5409:0.0:0.3154	4.479	0.11169	804	0.43891	Signal recognition particle receptor, alpha subunit, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	509.43	36	chr11	126267701	.	C	G	509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.886;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.793;SOR=0.641	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	9	0	1	0
chr11	126445065	126445065	C	T	exonic	KIRREL3	.	nonsynonymous SNV	KIRREL3:NM_001161707:exon10:c.G1166A:p.R389H,KIRREL3:NM_001301097:exon10:c.G1166A:p.R389H,KIRREL3:NM_032531:exon10:c.G1166A:p.R389H	Mental retardation, autosomal dominant 4	0	1515	7	0	0	7	0.00230491	.	.	.	373950	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.0128178865906	.	0.000399361	0.0008	0	0.0003	0	0.0002	0.0002	0	0.0048	0.0006662	103	154602	rs562824080	0.0004	0.0004	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	8.961e-05	0.0002	0	0	0	0.0009	0.0002	0.0005	0.0047	0.0002	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0029	0.0024	0.0001	0	6.532e-05	0	0	0	0	0.0001	0.0005	0.0043	0.133	0.28646	T	0.074	0.46182	T	1.0	0.90584	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	0.999354	0.46766	D	1.665	0.42610	L	1.55	0.29866	T	-1.78	0.42001	N	0.664	0.70527	-0.9420	0.42298	T	0.149	0.47628	T	10	0.0127593875	0.00273	T	0.012818	0.31723	T	0.162	0.41843	.	.	0.228066490088	0.22430	0.4689616031334942	0.46815	1.40417438636	0.85273	0.684793114662	0.64957	T	0.062236	0.31865	T	-0.414815	0.01847	T	-0.367538	0.37177	T	0.0481697862251268	0.05175	T	0.916908	0.70254	D	0.2983009	0.52752	0.2475887	0.50292	0.35695	0.57603	0.24496984	0.49974	-9.24	0.69229	D	.	.	0.099	0.18164	B	.;.;.	.;.;.	5.304687	0.89052	29.8	0.99950550725095433	0.99944	0.93341	0.57958	D	AEFBI	0.619801	0.60510	D	0.590058241183142	0.72555	5.823991	0.603661948312344	0.75206	6.269616	0.999867103023605	0.44398	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	4.045000	0.57081	5.939000	0.51448	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.820	0.92059	963	0.08280	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	2625.14	33	chr11	126445065	.	C	T	2625.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.996;DP=567;ExcessHet=0.2348;FS=0.439;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.16;SOR=0.683	GT:AD:DP:GQ:PL	0/1:61,55:116:99:1217,0,1438	8	0	2	0
chr11	128810767	128810767	A	C	exonic	FLI1	.	nonsynonymous SNV	FLI1:NM_001271012:exon7:c.A559C:p.K187Q,FLI1:NM_002017:exon9:c.A1138C:p.K380Q,FLI1:NM_001167681:exon10:c.A1039C:p.K347Q,FLI1:NM_001271010:exon10:c.A940C:p.K314Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.0679733187552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50132	D	0.052	0.48080	T	0.992	0.70673	D	0.889	0.75168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.62	0.76659	M	0.59	0.53943	T	-2.89	0.60665	D	0.663	0.69213	-0.2775	0.75609	T	0.357	0.71990	T	10	0.64651424	0.69357	D	0.067973	0.70319	D	0.272	0.58758	0.392	0.41606	0.797265968075	0.79538	0.8308058206196618	0.83039	2.09786414958	0.94786	0.757673621178	0.75583	T	0.617372	0.87958	D	0.0387728	0.56886	T	-0.182082	0.56331	T	0.947067439556122	0.62602	D	0.962904	0.87805	D	0.454512	0.64327	0.3208318	0.58036	0.454512	0.64328	0.3208318	0.58035	-7.957	0.77590	D	0.4547754449873175	0.53796	0.600	0.68863	P	.;.;.;.	.;.;.;.	4.311984	0.65921	24.9	0.99442868459519351	0.64870	0.98836	0.87495	D	AEFBI	0.900988	0.84716	D	0.832166240684762	0.88069	9.442578	0.795347256025094	0.89466	9.987292	0.999999989838226	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	9.268000	0.94851	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	15.483	0.75275	724	0.55085	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3867.43	34	chr11	128810767	.	A	C	3867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.389;DP=616;ExcessHet=0;FS=3.117;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.04;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	9	0	1	0
chr11	128839449	128839449	C	A	exonic	KCNJ1	.	nonsynonymous SNV	KCNJ1:NM_000220:exon2:c.G852T:p.E284D,KCNJ1:NM_153764:exon2:c.G795T:p.E265D,KCNJ1:NM_153765:exon3:c.G846T:p.E282D,KCNJ1:NM_153766:exon3:c.G795T:p.E265D,KCNJ1:NM_153767:exon4:c.G795T:p.E265D	Bartter syndrome, type 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.051931748374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.04629	T	0.783	0.04288	T	0.003	0.11197	B	0.01	0.14941	B	0.000000	0.84330	D	0.046212	0.967414	0.38592	D	-0.33	0.03531	N	-2.91	0.91696	D	-0.04	0.07882	N	0.108	0.14763	-0.7558	0.57630	T	0.396	0.74887	T	10	0.07097423	0.10398	T	0.051932	0.64866	D	0.306	0.62729	0.274	0.22528	0.589546583947	0.58630	0.23928539843720242	0.23842	0.0355094227063	0.03747	0.590335845947	0.51541	T	0.566787	0.85590	D	-0.0608039	0.42782	T	-0.325117	0.42012	T	0.246117502450943	0.22698	T	0.848715	0.53056	T	0.1442338	0.33115	0.12212511	0.29462	0.1442338	0.33115	0.12212511	0.29461	-3.319	0.14061	T	0.07031506879511587	0.02707	0.067	0.12844	B	.;.;.;.;.	.;.;.;.;.	0.607548	0.09760	6.527	0.7046728249007812	0.09305	0.73511	0.35958	D	AEFBI	0.133936	0.25376	N	-0.999802896591094	0.08608	0.4042519	-0.831004805789844	0.13745	0.7146976	0.991427533064911	0.32484	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.63	-1.88	0.07294	0.408000	0.20787	-0.438000	0.09178	-0.780000	0.03343	0.998000	0.41325	0.156000	0.23222	0.973000	0.55318	0.0:0.5037:0.1275:0.3688	9.187	0.36337	417	0.81662	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1266.43	39	chr11	128839449	.	C	A	1266.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.689;DP=434;ExcessHet=0;FS=3.433;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.635;SOR=0.57	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	9	0	1	0
chr11	130188656	130188656	C	T	exonic	ST14	.	nonsynonymous SNV	ST14:NM_021978:exon3:c.C368T:p.A123V	Ichthyosis, congenital, autosomal recessive 11, Autosomal recessive	.	.	.	.	.	.	.	0.0136	0.164	.	3475059	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.00775508372525	.	.	4.124e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs776989571	1.915e-05	1.915e-05	1.225e-05	2.613e-05	0.0002	1.328e-05	1.144e-05	0.0001	0.0001	0	0	0	0	0	0	8.093e-06	0	0.0002	1.971e-05	1.97e-05	1.285e-05	2.689e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.1	0.25713	B	0.067	0.27542	B	0.067817	0.21715	N	0.234967	0.941304	0.81001	D	1.74	0.45129	L	1.17	0.37910	T	0.73	0.02068	N	0.307	0.34659	-1.1034	0.03704	T	0.053	0.22346	T	10	0.06505656	0.08720	T	0.007755	0.20563	T	0.085	0.24743	.	.	0.377493895363	0.37364	0.33160912637301	0.33073	0.435905703178	0.43696	0.349786221981	0.17890	T	0.097345	0.40007	T	-0.411526	0.01942	T	-0.524357	0.19854	T	0.185696497559547	0.19587	T	0.728627	0.34357	T	0.09703544	0.22865	0.08590457	0.19865	0.09703544	0.22865	0.08590457	0.19865	-3.718	0.19584	T	0.22198290532755727	0.29945	0.139	0.30344	B	.	.	3.914019	0.57101	23.8	0.54915530247236333	0.05234	0.65227	0.32667	D	AEFDBCI	0.451819	0.50564	N	-0.237833825618283	0.31591	1.772991	-0.0210485894655903	0.38766	2.288657	0.999896330291601	0.45129	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.586402	0.36253	0	.	.	5.54	4.62	0.56946	3.427000	0.52552	4.678000	0.44308	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.9212:0.0:0.0788	12.645	0.56089	707	0.57054	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	949.43	37	chr11	130188656	.	C	T	949.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.842;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-0.839;SOR=0.747	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1410	9	0	1	0
chr11	130469325	130469325	G	A	exonic	ADAMTS15	.	nonsynonymous SNV	ADAMTS15:NM_139055:exon5:c.G1606A:p.V536M	.	418	1100	4	0	0	4	0.00181488	.	.	.	2810026	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.457	0.0599579386347	0.0023	0.000798722	0.0027	0.0002	0.0002	0	0.0030	0.0039	0.0052	0.0018	0.0023868	369	154602	rs149341964	0.0030	0.0029	0.0031	0.0029	0.0032	0.0029	0.0028	0.0031	0.0031	0.0004	0.0004	0.0032	0	0.0043	0.0013	0.0032	0.0025	0.0014	0.0019	0.0019	0.0019	0.0018	0.0028	0.0017	0.0016	0.0024	0.0023	0.0005	0.0175	0.0003	0.0017	0	0.0034	0	0.0028	0.0014	0.0017	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.935	0.84639	M	0.6	0.53731	T	-2.77	0.58733	D	0.74	0.74007	-0.1180	0.79681	T	0.386	0.74114	T	9	0.054370284	0.05778	T	0.059958	0.67839	D	0.457	0.75551	.	.	0.824257999884	0.82259	0.728705181514215	0.72814	0.83910681549	0.67956	0.530759692192	0.43141	T	0.270316	0.64257	T	-0.217749	0.18301	T	-0.0804303	0.64873	T	0.0433583792024969	0.04304	T	0.963704	0.86510	D	0.35261357	0.57269	0.45353207	0.68219	0.35261357	0.57270	0.45353207	0.68219	-10.569	0.77243	D	.	.	0.618	0.69608	P	.	.	5.096180	0.85121	28.5	0.99914435243871114	0.98309	0.99241	0.93311	D	AEFDBI	0.883815	0.81302	D	0.817643418883172	0.87196	9.135318	0.747743063105443	0.85987	8.747738	0.999999963452274	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.49	4.58	0.56077	8.152000	0.89578	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0713:0.0:0.9287:0.0	14.346	0.66222	942	0.12992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000506	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	870.43	40	chr11	130469325	.	G	A	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.02;DP=432;ExcessHet=0;FS=1.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.172;SOR=0.96	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	9	0	1	0
chr11	133909085	133909085	T	C	exonic	IGSF9B	.	nonsynonymous SNV	IGSF9B:NM_001277285:exon20:c.A4298G:p.H1433R	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00798722	0.0256	0	0.0053	0	0	0.0050	0.0522	0.0381	0.0027231	421	154602	rs138072592	0.0045	0.0042	0.0035	0.0055	0.0357	0.0044	0.0043	0.0346	0.0342	0.0003	0.0012	0.0053	8.396e-05	0.0005	0.0058	0.0027	0.0041	0.0357	0.0031	0.0031	0.0027	0.0035	0.0372	0.0029	0.0028	0.0327	0.0310	0.0005	0.0033	0.0018	0.0055	0.0006	0.0003	0.0102	0.0031	0.0019	0.0372	.	.	.	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	0.980173	0.25131	N	.	.	.	.	.	.	.	.	.	0.222	0.24883	.	.	.	.	.	.	.	0.004899472	0.00105	T	.	.	.	.	.	.	.	.	.	0.6130628645244464	0.61238	0.144869896826	0.16365	0.65162050724	0.60215	T	.	.	.	-0.325306	0.06472	T	-0.213596	0.53351	T	.	.	.	0.751425	0.37327	T	.	.	.	.	.	.	.	.	-2.078	0.03490	T	.	.	0.088	0.11797	B	.	.	3.581161	0.50486	22.9	0.99044524387127286	0.51095	0.98680	0.85501	D	AEFBI	0.821007	0.74166	D	.	.	.	.	.	.	0.907019004734857	0.26247	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.07	4.93	0.64394	6.974000	0.75906	7.865000	0.71651	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1341:0.0:0.0:0.8659	11.466	0.49483	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1157.43	80	chr11	133909085	.	T	C	1157.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.459;DP=400;ExcessHet=0;FS=5.896;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=2.89;SOR=0.302	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,935	9	0	1	0
chr11	133920070	133920070	C	T	exonic	IGSF9B	.	nonsynonymous SNV	IGSF9B:NM_001277285:exon18:c.G3655A:p.A1219T	.	402	1117	3	0	0	3	0.00134108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0247089295072	0.0013	.	0.0011	0.0002	0.0010	0	0	0.0017	0	0.0004	0.0010155	157	154602	rs201329176	0.0017	0.0017	0.0017	0.0018	0.0067	0.0017	0.0017	0.0050	0.0044	0.0005	0.0010	0.0034	0	0.0001	0.0067	0.0020	0.0014	0.0003	0.0013	0.0013	0.0015	0.0011	0.0021	0.0011	0.0011	0.0018	0.0017	0.0004	0	0.0012	0.0049	0	0	0	0.0021	0.0014	0	0.487	0.08067	T	0.746	0.04877	T	0.002	0.09854	B	0.001	0.04355	B	0.012083	0.29294	N	0.159398	1	0.08975	N	-0.205	0.04094	N	0.19	0.60236	T	-0.2	0.10136	N	0.136	0.22870	-1.0051	0.28427	T	0.077	0.30737	T	10	0.0041303933	0.00081	T	0.024709	0.47696	T	0.030	0.07022	.	.	0.0675242888579	0.06100	0.1307254831588098	0.12997	0.0987769954681	0.11157	0.61501789093	0.55024	T	0.001593	0.01030	T	-0.517114	0.00457	T	-0.528805	0.19406	T	0.00768898730280037	0.00090	T	0.789321	0.42944	T	0.04447727	0.07116	0.054332856	0.09326	0.04447727	0.07116	0.054332856	0.09326	-4.211	0.29037	T	.	.	0.071	0.03887	B	.;.	.;.	2.201831	0.28079	17.68	0.92839785112096418	0.22374	0.14975	0.18681	N	AEFDBI	0.091055	0.18447	N	-1.24880345925987	0.04315	0.1945291	-1.1638522992481	0.06523	0.3142353	0.750232362811389	0.23348	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	5.11	3.19	0.35720	0.437000	0.21261	3.966000	0.40787	0.599000	0.40250	0.025000	0.20085	0.999000	0.35428	0.360000	0.25886	0.0:0.535:0.1722:0.2927	4.223	0.10021	911	0.21964	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.008152	0.017647	0.000000	0.008621	0.003049	0.003788	0.05	1208.43	37	chr11	133920070	.	C	T	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.017;DP=402;ExcessHet=0;FS=3.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.252;SOR=0.384	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	9	0	1	0
chr11	134210310	134210310	T	C	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon3:c.A113G:p.H38R,NCAPD3:NM_001372065:exon4:c.A527G:p.H176R,NCAPD3:NM_001372068:exon4:c.A527G:p.H176R,NCAPD3:NM_015261:exon4:c.A527G:p.H176R,NCAPD3:NM_001372070:exon6:c.A113G:p.H38R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00277786763977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.498	0.07797	T	0.088	0.40586	T	0.012	0.16265	B	0.002	0.06944	B	0.816857	0.09209	N	0.935437	1	0.08975	N	1.1	0.28011	L	2.0	0.21473	T	-0.38	0.13418	N	0.05	0.02179	-0.9963	0.30946	T	0.022	0.09559	T	10	0.032693356	0.01426	T	0.002778	0.05781	T	0.004	0.00165	0.202	0.11659	0.152612264143	0.14878	0.049591120084439576	0.04902	0.0893604641147	0.10097	0.276299923658	0.06981	T	0.004925	0.04343	T	-0.340603	0.05346	T	-0.727029	0.04463	T	0.015706284517003	0.00362	T	0.532847	0.17735	T	0.021788996	0.00800	0.026194246	0.00697	0.021788996	0.00800	0.026194246	0.00697	-0.325	0.00487	T	.	.	0.078	0.06803	B	.	.	-0.265170	0.02775	0.375	0.45997870322991552	0.03651	0.05247	0.11081	N	AEFBI	0.033958	0.04125	N	-1.21660076933853	0.04758	0.2154623	-1.25785521434011	0.05016	0.2380066	0.998508841062514	0.37090	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.44	-4.15	0.03617	-0.355000	0.07721	-0.688000	0.07853	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.0:0.4165:0.2451:0.3384	7.200	0.25051	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1137.43	35	chr11	134210310	.	T	C	1137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.304;DP=435;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.897;SOR=0.599	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1142	9	0	1	0
chr11	134342853	134342853	G	A	exonic	GLB1L2	.	stopgain	GLB1L2:NM_001370460:exon2:c.G186A:p.W62X,GLB1L2:NM_001370461:exon2:c.G186A:p.W62X,GLB1L2:NM_001370462:exon2:c.G186A:p.W62X,GLB1L2:NM_001370463:exon2:c.G186A:p.W62X,GLB1L2:NM_138342:exon2:c.G186A:p.W62X	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	.	.	0.000599042	0.0004	0	0	0	0	0	0.0011	0.0031	0.0003558	55	154602	rs544621781	0.0001	0.0001	6.943e-05	0.0002	0.0024	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0	8.993e-07	6.624e-05	0.0024	9.191e-05	9.185e-05	7.709e-05	0.0001	0.0029	5.523e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.269099	0.15163	N	0.662593	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239217	0.77587	D	0.566539	0.96104	D	0.237713391762961	0.22313	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	8.536474	0.97688	38	0.98845281799278706	0.47203	0.78542	0.38765	D	AEFDBI	0.241574	0.36317	N	0.731058291936168	0.81668	7.576577	0.508839132496045	0.68584	5.240195	0.854843046727537	0.25113	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.72	4.72	0.59248	0.619000	0.24083	1.554000	0.27312	0.676000	0.76740	0.999000	0.42656	0.921000	0.28324	0.794000	0.37478	0.0831:0.2353:0.6815:0.0	8.662	0.33261	964	0.07719	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1575.43	36	chr11	134342853	.	G	A	1575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.156;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.281;SOR=0.722	GT:AD:DP:GQ:PL	0/1:58,69:127:99:1587,0,1218	9	0	1	0
chr12	67168	67168	G	C	exonic	IQSEC3	.	nonsynonymous SNV	IQSEC3:NM_001170738:exon1:c.G286C:p.D96H	.	427	1089	6	0	0	6	0.00274725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	.	.	0.0026	0.0111	0.0606	0	.	0.0032	0.0122	0.0012	0.0009221	24	26028	rs782295926	0.0039	0.0039	0.0039	0.0038	0.0061	0.0038	0.0037	0.0043	0.0042	0.0008	0.0033	0.0024	0	0.0041	0.0061	0.0044	0.0035	0.0008	0.0033	0.0034	0.0032	0.0035	0.0062	0.0031	0.0030	0.0052	0.0048	0.0007	0.0176	0.0062	0.0035	0	0.0030	0.0136	0.0045	0.0052	0.0012	0.148	0.24857	T	0.109	0.37449	T	.	.	.	.	.	.	0.980809	0.08095	U	0.985349	0.955065	0.26347	N	0.695	0.17993	N	1.12	0.38718	T	-0.6	0.17834	N	0.05	0.02179	-0.9599	0.39199	T	0.086	0.33354	T	8	0.0042662323	0.00085	T	.	.	.	0.072	0.21020	.	.	0.522070630433	0.51852	0.28569742013164945	0.28482	3.21115196292	0.99499	0.784718155861	0.79642	T	0.010654	0.09602	T	-0.547702	0.00301	T	-0.559657	0.16408	T	0.00620031556581083	0.00069	T	0.542746	0.18485	T	0.03209524	0.03170	0.054420795	0.09358	0.03209524	0.03170	0.054420795	0.09357	-2.586	0.06397	T	.	.	0.133	0.28664	B	.	.	2.388771	0.30670	18.51	0.98377637462506395	0.40822	0.00939	0.03629	N	AEFDGBHCI	0.083566	0.16931	N	-0.21371504949177	0.32571	1.838261	-0.261146272928498	0.29390	1.646179	0.0107335853423343	0.12073	0.615755	0.39536	0	0.573888	0.26702	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	3.92	0.307	0.15057	-0.009000	0.12703	0.903000	0.22566	0.575000	0.29119	0.933000	0.32380	0.997000	0.33255	0.062000	0.16114	0.4107:0.0:0.37:0.2193	2.539	0.04434	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	468.43	33	chr12	67168	.	G	C	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.57;DP=443;ExcessHet=0;FS=9.081;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.01;MQRankSum=1.06;QD=5.93;ReadPosRankSum=0.91;SOR=0.706	GT:AD:DP:GQ:PL	0/0:34,0:34:96:0,96,1440	9	0	1	0
chr12	67330	67335	GACAAG	-	exonic	IQSEC3	.	nonframeshift deletion	IQSEC3:NM_001170738:exon1:c.448_453del:p.D150_K151del	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319497418	5.325e-05	5.678e-05	4.268e-05	6.392e-05	0.0013	4.324e-05	3.996e-05	0.0006	0.0004	0	2.239e-05	7.657e-05	0	2.561e-05	0.0013	3.059e-05	3.324e-05	0.0003	4.593e-05	4.592e-05	3.852e-05	5.368e-05	0.0002	2.107e-05	1.525e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1521.39	33	chr12	67329	.	TGACAAG	T	1521.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.036;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.96;MQRankSum=-3.328;QD=10.08;ReadPosRankSum=-0.723;SOR=0.668	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr12	309870	309870	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon22:c.A3311G:p.D1104G	.	5	1503	14	0	0	14	0.00463576	.	.	.	753324	KDM5A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.334	.	0.0002	0.00259585	0.0017	0	0.0011	0	0	0.0003	0.0011	0.0107	0.0014489	224	154602	rs201344078	0.0009	0.0009	0.0006	0.0012	0.0112	0.0009	0.0008	0.0106	0.0103	2.99e-05	0.0008	3.827e-05	0	0	0.0012	0.0002	0.0010	0.0112	0.0006	0.0006	0.0004	0.0007	0.0118	0.0005	0.0004	0.0094	0.0085	7.215e-05	0	0.0010	0	0	0	0	0.0002	0	0.0118	0.192	0.20988	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047953	0.999981	0.54805	D	0.255	0.09829	N	-1.92	0.84773	D	0.02	0.06739	N	0.339	0.38027	-0.3782	0.72708	T	0.444	0.78124	T	10	0.007944077	0.00180	T	.	.	.	0.334	0.65620	.	.	0.206203607746	0.20212	0.5532631801951152	0.55252	0.239666914259	0.26511	0.492004603148	0.37716	T	0.140279	0.47474	T	-0.351601	0.04627	T	-0.268432	0.47978	T	0.0242367315862672	0.01174	T	0.840516	0.51562	T	0.20029108	0.41999	0.18359748	0.41359	0.20029108	0.41999	0.18359748	0.41358	-4.002	0.23834	T	.	.	0.096	0.15475	B	.	.	3.159092	0.42797	21.6	0.98882147109117824	0.47841	0.91016	0.52696	D	AEFBI	0.349626	0.44335	N	-0.028904609364582	0.40549	2.410021	0.182922526094968	0.48911	3.100887	0.839289507017523	0.24836	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.970000	0.56530	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	16.353	0.83053	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.011364	0.05	534.43	34	chr12	309870	.	T	C	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.706;DP=312;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=1.84;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,900:.	9	0	1	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D	.	427	1038	55	2	0	59	0.0276347	.	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020141	0.010101	0.019022	0.035088	0.050000	0.034483	0.018293	0.015152	0.05	779.43	34	chr12	553246	.	G	C	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.596;DP=383;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.054;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1030	9	0	1	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y	.	410	1055	55	2	0	59	0.0272015	.	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.019022	0.035088	0.050000	0.034483	0.015244	0.015152	0.05	1066.43	35	chr12	553529	.	C	T	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=486;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.66;ReadPosRankSum=-1.803;SOR=0.573	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr12	558560	558560	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon18:c.G2660C:p.G887A	.	414	1085	23	0	0	23	0.0104879	.	.	.	3185142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.116	0.00940082659047	0.0048	0.00319489	0.0041	0.0008	0.0033	0	0.0005	0.0054	0.0022	0.0052	0.0010737	166	154602	rs61730392	0.0049	0.0049	0.0048	0.0051	0.0180	0.0048	0.0048	0.0152	0.0142	0.0006	0.0026	0.0090	0	0.0005	0.0180	0.0053	0.0051	0.0060	0.0039	0.0039	0.0040	0.0038	0.0064	0.0036	0.0035	0.0056	0.0055	0.0009	0	0.0039	0.0078	0.0004	0.0003	0.0340	0.0061	0.0038	0.0064	0.173	0.22573	T	0.051	0.47828	T	0.091	0.25247	B	0.119	0.32162	B	0.047531	0.23336	N	0.450561	0.997748	0.22526	N	2.085	0.57729	M	1.21	0.37230	T	-3.07	0.63207	D	0.339	0.38027	-1.0250	0.22083	T	0.054	0.22959	T	10	0.007891625	0.00179	T	0.009401	0.24646	T	0.116	0.32463	.	.	0.382592752248	0.37866	0.5573434413093522	0.55661	0.285283984109	0.30940	0.503007769585	0.39247	T	0.025108	0.18839	T	-0.405663	0.02124	T	-0.345095	0.39767	T	0.0327530080428687	0.02430	T	0.80202	0.44827	T	0.14915045	0.34016	0.19425906	0.43039	0.14915045	0.34016	0.19425906	0.43038	-7.163	0.55215	T	.	.	0.107	0.20235	B	.	.	3.297854	0.45254	22.1	0.91282640441553953	0.20542	0.74996	0.36702	D	AEFGBI	0.154587	0.27964	N	-0.184703900682098	0.33770	1.919788	-0.127708451940447	0.34277	1.969932	0.999954154224236	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	2.341000	0.43640	4.424000	0.43326	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.433000	0.27516	0.0:0.1514:0.8486:0.0	14.012	0.64021	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.020202	0.016304	0.017544	0.000000	0.008621	0.009146	0.007576	0.05	514.43	37	chr12	558560	.	G	C	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=395;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=-0.111;SOR=0.945	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	9	0	1	0
chr12	566073	566073	C	T	exonic	NINJ2	.	nonsynonymous SNV	NINJ2:NM_001294345:exon2:c.G118A:p.A40T,NINJ2:NM_001294346:exon2:c.G31A:p.A11T,NINJ2:NM_016533:exon2:c.G139A:p.A47T,NINJ2:NM_001367996:exon3:c.G31A:p.A11T	.	415	1101	4	2	0	8	0.00361991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0322200083881	.	0.00159744	0.0007	0	0	0	0	7.509e-05	0	0.0047	0.0005951	92	154602	rs536237414	0.0003	0.0003	0.0002	0.0005	0.0045	0.0003	0.0003	0.0042	0.0040	0	0	0	7.557e-05	1.872e-05	0.0007	3.597e-05	0.0003	0.0045	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0	0	0	5.881e-05	0	0.0077	0.035	0.63226	D	0.012	0.64786	D	.	.	.	.	.	.	0.008142	0.30992	N	0.317552	0.997166	0.43677	D	.	.	.	0.7	0.51474	T	-3.3	0.67824	D	0.23	0.25867	-0.8550	0.51620	T	0.135	0.45010	T	10	0.00632143	0.00143	T	0.03222	0.54103	D	0.218	0.51265	.	.	0.67247961064	0.66970	0.6568067482916274	0.65616	0.24590413445	0.27115	0.396976739168	0.24648	T	0.219495	0.58251	T	-0.394666	0.02509	T	-0.339008	0.40457	T	0.107985896915773	0.13213	T	0.887511	0.61998	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.38569	B	.;.;.;.	.;.;.;.	3.911351	0.57044	23.8	0.99834712861672226	0.91628	0.78749	0.38900	D	AEFBI	0.271195	0.38710	N	-0.0374657803670209	0.40165	2.380609	-0.0331010458790965	0.38229	2.249395	0.999908251943474	0.45458	0.706298	0.61202	0	0.709663	0.81188	0	0.602189	0.34648	0	0.59522	0.37078	0	.	.	4.83	3.0	0.33773	2.613000	0.46015	0.331000	0.17284	0.549000	0.26987	0.987000	0.36337	0.020000	0.20764	0.994000	0.71098	0.0:0.8448:0.0:0.1552	10.743	0.45361	867	0.32089	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1645.43	35	chr12	566073	.	C	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=447;ExcessHet=0;FS=1.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.71;SOR=0.895	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	9	0	1	0
chr12	865116	865116	C	T	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_213655:exon9:c.C2146T:p.R716C	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	641404	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C|Inborn_genetic_diseases	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	.	.	0.000399361	0.0002	0	0	0	0	0	0.0147	0	3.23e-05	5	154602	rs140331977	8.574e-05	8.415e-05	9.08e-05	8.05e-05	9.372e-05	7.285e-05	6.807e-05	7.826e-05	7.295e-05	6.404e-05	8.711e-05	0	0	9.035e-05	0	9.372e-05	3.501e-05	9.16e-05	8.676e-05	8.547e-05	9.131e-05	8.199e-05	0.0002	5.032e-05	4.02e-05	4.821e-05	3.375e-05	4.9e-05	0	6.663e-05	0	0.0002	0.0002	0	0.0001	0	0	.	.	.	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	0.994898	0.81001	D	.	.	.	.	.	.	.	.	.	0.688	0.69387	-1.1343	0.01587	T	0.073	0.29547	T	6	0.3604396	0.52688	T	.	.	.	.	.	.	.	0.280695755116	0.27685	0.025479195506081798	0.02498	.	.	.	.	.	.	.	.	-0.0105516	0.50189	T	0.00211279	0.70472	D	0.956602275371552	0.64799	D	0.725127	0.33902	T	.	.	.	.	.	.	.	.	-5.112	0.38033	T	.	.	0.441	0.61760	A	.	.	3.349895	0.46200	22.3	0.99937431621795614	0.99661	0.98602	0.84577	D	AEFGBI	0.795945	0.72322	D	0.321460762157473	0.57250	3.891796	0.3951037945558	0.61261	4.323917	0.999936252982687	0.46732	0.160855	0.03482	2	0.546412	0.12157	0	0.408882	0.06424	0	0.491896	0.07777	0	.	.	5.67	4.76	0.60189	5.800000	0.68767	2.723000	0.34327	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8712:0.1288:0.0	16.842	0.85837	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1030.43	36	chr12	865116	.	C	T	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.192;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.18;SOR=0.676	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1351	9	0	1	0
chr12	884939	884939	A	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.A3394G:p.T1132A,WNK1:NM_001184985:exon19:c.A4915G:p.T1639A,WNK1:NM_018979:exon19:c.A4135G:p.T1379A,WNK1:NM_213655:exon19:c.A4891G:p.T1631A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	641463	Pseudohypoaldosteronism_type_2C|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Inborn_genetic_diseases	MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0132395561349	.	.	4.119e-05	0	0	0.0001	0	4.496e-05	0	6.056e-05	3.88e-05	6	154602	rs758763241	3.489e-05	3.489e-05	3.403e-05	3.575e-05	0.0016	2.697e-05	2.438e-05	0.0008	0.0006	0	0	0	0.0003	0	0.0016	2.338e-05	3.312e-05	4.637e-05	3.942e-05	3.94e-05	2.569e-05	5.38e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.359e-05	0	0	0	0	0.0006	0	0.0032	2.94e-05	0	0	0.105	0.30515	T	0.506	0.10967	T	0.0	0.02946	B	0.004	0.10090	B	0.005617	0.32654	N	0.267324	0.991689	0.24154	N	2.045	0.56016	M	1.61	0.28391	T	-2.88	0.60507	D	0.024	0.01274	-1.0358	0.18606	T	0.049	0.21026	T	10	0.042243242	0.02955	T	0.01324	0.32488	T	0.052	0.14661	0.123	0.02942	0.134007934775	0.12933	0.22148611605682514	0.22063	0.189087657881	0.21227	0.277636945248	0.07165	T	0.096827	0.61236	T	-0.542755	0.00323	T	-0.647493	0.09131	T	0.0272863283087741	0.01584	T	0.744226	0.37241	T	0.04422415	0.07030	0.061712407	0.11961	0.04422415	0.07030	0.061712407	0.11961	-3.342	0.14470	T	.	.	0.078	0.06896	B	.;.;.;.;.	.;.;.;.;.	2.005874	0.25488	16.78	0.71614006345006187	0.09689	0.75193	0.36805	D	AEFBI	0.206961	0.33318	N	-0.511465234733624	0.21708	1.154069	-0.43687414021391	0.23924	1.307241	0.0546864707832399	0.14985	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	1.93	0.24985	0.703000	0.25321	0.347000	0.17439	0.756000	0.94297	0.808000	0.29825	0.000000	0.08366	0.143000	0.20056	0.4052:0.3306:0.1387:0.1255	2.076	0.03405	552	0.72024	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.012195	0.000000	0.1	5714.12	191	chr12	884939	.	A	G	5714.12	.	AC=2;AF=0.1;AN=20;DP=1591;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.07;SOR=0.95	GT:AD:DP:GQ:PL	0/0:195,0:195:99:0,120,1800	9	1	0	0
chr12	885416	885416	A	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.A3871G:p.T1291A,WNK1:NM_001184985:exon19:c.A5392G:p.T1798A,WNK1:NM_018979:exon19:c.A4612G:p.T1538A,WNK1:NM_213655:exon19:c.A5368G:p.T1790A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3089351	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00634492441673	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs749867274	3.421e-06	3.42e-06	0	6.877e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	3.478e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.51	0.10378	T	0.965	0.02516	T	0.001	0.07471	B	0.001	0.04355	B	0.646397	0.10553	N	0.842906	1	0.08975	N	0.11	0.08516	N	0.83	0.47815	T	-1.2	0.30555	N	0.026	0.01274	-0.9281	0.44415	T	0.041	0.17700	T	10	0.027050853	0.00859	T	0.006345	0.16668	T	0.053	0.14996	0.102	0.01589	0.134007934775	0.12933	0.08593966915310039	0.08527	0.118273141635	0.13311	0.306251883507	0.11341	T	0.062113	0.54895	T	-0.439028	0.01310	T	-0.771555	0.02717	T	0.0181286127302096	0.00535	T	0.759724	0.38410	T	0.023683682	0.01129	0.038742676	0.03811	0.023683682	0.01129	0.038742676	0.03811	-3.368	0.15780	T	.	.	0.061	0.05145	B	.;.;.;.;.	.;.;.;.;.	-0.777876	0.01151	0.054	0.41070531021125889	0.02939	0.02213	0.06447	N	AEFDBI	0.051758	0.09174	N	-1.64111317108341	0.01073	0.04656796	-1.64227724709195	0.01416	0.06402976	0.969632054723363	0.29144	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	-7.3	0.01298	-0.732000	0.05008	-1.338000	0.05679	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.879000	0.42020	0.2494:0.1046:0.646:0.0	13.601	0.61485	552	0.72024	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3786.43	38	chr12	885416	.	A	G	3786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.17;DP=810;ExcessHet=0;FS=0.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.074;SOR=0.659	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr12	885872	885872	C	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.C4327G:p.P1443A,WNK1:NM_001184985:exon19:c.C5848G:p.P1950A,WNK1:NM_018979:exon19:c.C5068G:p.P1690A,WNK1:NM_213655:exon19:c.C5824G:p.P1942A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	578505	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.452	0.124524089538	.	.	5.789e-05	0	8.637e-05	0	0	0	0	0.0004	4.53e-05	7	154602	rs771546256	4.449e-05	4.446e-05	2.451e-05	6.468e-05	0.0006	3.577e-05	3.259e-05	0.0005	0.0005	0	0	0	0	0	0	6.299e-06	3.313e-05	0.0006	3.285e-05	3.94e-05	2.569e-05	4.035e-05	0.0004	1.261e-05	7.98e-06	7.287e-05	3.028e-05	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0004	0.074	0.35537	T	1.0	0.28669	T	0.046	0.21875	B	0.027	0.21085	B	0.000115	0.50451	N	0.087473	0.997926	0.44325	D	1.79	0.46772	L	-2.8	0.91076	D	-4.57	0.80256	D	0.239	0.26957	0.003	0.82311	D	0.608	0.86111	D	10	0.122582406	0.23257	T	0.124524	0.80589	D	0.452	0.75211	0.311	0.28451	0.40642006208	0.40259	0.3803628023096669	0.37951	0.448429279266	0.44671	0.400211215019	0.25098	T	0.25618	0.87278	T	-0.134034	0.30846	T	-0.066144	0.65900	T	0.131805352417146	0.15548	T	0.878412	0.59357	D	0.19272722	0.40953	0.21013972	0.45388	0.19272722	0.40953	0.21013972	0.45387	-3.593	0.18263	T	.	.	0.067	0.07412	B	.;.;.;.;.	.;.;.;.;.	2.605014	0.33824	19.45	0.98038702051356297	0.37774	0.97730	0.76719	D	AEFDBI	0.356941	0.44814	N	-0.0776401916282595	0.38374	2.246598	0.0976206796174211	0.44429	2.724841	0.989302221242801	0.31782	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.98	0.65679	3.056000	0.49616	4.239000	0.42696	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.8752:0.1248:0.0	17.388	0.87313	551	0.72115	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1922.43	38	chr12	885872	.	C	G	1922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=552;ExcessHet=0;FS=1.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.889;SOR=0.824	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr12	1913093	1913093	C	T	exonic	CACNA2D4	.	nonsynonymous SNV	CACNA2D4:NM_172364:exon3:c.G356A:p.G119D	Retinal cone dystrophy 4, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1503850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0455138715127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.149	0.92824	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.052840	1	0.81001	D	2.74	0.80084	M	2.61	0.37746	T	-5.02	0.82511	D	0.96	0.98466	-1.0011	0.29602	T	0.116	0.41053	T	10	0.8019103	0.79581	D	0.045514	0.62018	D	0.420	0.72930	0.634	0.77032	0.416202232284	0.41236	0.9083707315611426	0.90810	0.70152782101	0.61159	0.660309553146	0.61453	T	0.493249	0.81688	T	0.119856	0.66357	D	-0.0656118	0.65938	T	0.994776844978333	0.86277	D	.	.	.	0.75276524	0.81029	0.78302103	0.87214	0.75276524	0.81030	0.78302103	0.87215	-14.478	0.94526	D	.	.	0.895	0.89495	P	.;.;.;.;.;.	.;.;.;.;.;.	4.904747	0.80643	27.4	0.99869343095652163	0.94726	0.97498	0.75138	D	AEFDGBI	0.905178	0.85637	D	0.825908713927554	0.87697	9.308622	0.786574677437935	0.88844	9.737531	0.999999999999989	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.32	5.32	0.75377	7.707000	0.83595	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.663	0.91438	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	7492.12	33	chr12	1913093	.	C	T	7492.12	.	AC=2;AF=0.1;AN=20;DP=571;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.38;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1347	9	1	0	0
chr12	2688580	2688580	G	A	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129838:exon45:c.G5942A:p.R1981Q,CACNA1C:NM_001129839:exon45:c.G5936A:p.R1979Q,CACNA1C:NM_001129846:exon45:c.G5885A:p.R1962Q,CACNA1C:NM_000719:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129829:exon46:c.G6041A:p.R2014Q,CACNA1C:NM_001129833:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129834:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129835:exon46:c.G5975A:p.R1992Q,CACNA1C:NM_001129836:exon46:c.G5969A:p.R1990Q,CACNA1C:NM_001129840:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129841:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129842:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129843:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001129844:exon46:c.G5909A:p.R1970Q,CACNA1C:NM_001167623:exon46:c.G5918A:p.R1973Q,CACNA1C:NM_001167625:exon46:c.G6098A:p.R2033Q,CACNA1C:NM_001129830:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129831:exon47:c.G6002A:p.R2001Q,CACNA1C:NM_001129832:exon47:c.G5978A:p.R1993Q,CACNA1C:NM_001167624:exon47:c.G6023A:p.R2008Q,CACNA1C:NM_001129827:exon48:c.G6062A:p.R2021Q,CACNA1C:NM_199460:exon49:c.G6167A:p.R2056Q	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	0	1472	48	2	0	52	0.0173565	.	.	.	99326	Long_QT_syndrome|not_provided|Short_QT_syndrome|CACNA1C-related_disorder|Cardiovascular_phenotype|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:C3661900|MONDO:MONDO:0000453,MedGen:C2348199,OMIM:PS609620,Orphanet:51083|.|MedGen:CN230736|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	.	0.0017	0.00319489	0.0036	0.0002	0.0013	0.0001	0.0003	0.0021	0.0045	0.0162	0.0030918	478	154602	rs112414325	0.0023	0.0023	0.0019	0.0028	0.0156	0.0023	0.0022	0.0149	0.0146	0.0002	0.0014	0.0127	0	5.623e-05	0.0080	0.0013	0.0036	0.0156	0.0020	0.0020	0.0016	0.0023	0.0180	0.0018	0.0017	0.0150	0.0138	0.0004	0	0.0018	0.0135	0.0002	0	0.0102	0.0016	0.0043	0.0180	0.484	0.09776	T	0.586	0.11551	T	0.032	0.58535	B	0.005	0.52168	B	0.433660	0.12716	N	0.733016	0.999909	0.52935	D	.	.	.	0.53	0.55090	T	-0.51	0.18459	N	0.317	0.36674	-0.9378	0.42963	T	0.158	0.49060	T	10	0.006121576	0.00138	T	.	.	.	0.183	0.45592	.	.	0.774745351775	0.77267	0.42943405207208213	0.42860	0.220456262239	0.24588	0.339064538479	0.16298	T	0.005257	0.06762	T	-0.393694	0.02546	T	-0.325967	0.41916	T	0.0125000085483832	0.00207	T	.	.	.	.	.	.	.	.	.	.	.	-4.262	0.27641	T	.	.	0.1	0.20469	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.453092	0.48089	22.6	0.82543286476877942	0.14247	0.95520	0.65048	D	AEFDBI	0.740151	0.68449	D	-0.310102523607895	0.28764	1.589257	-0.162370008803943	0.32934	1.878767	0.999316768921301	0.39113	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	2.576000	0.45698	1.641000	0.27792	0.586000	0.30580	1.000000	0.71638	0.947000	0.28924	0.652000	0.32748	0.0797:0.0:0.9203:0.0	12.655	0.56145	861	0.33516	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.000000	0.000000	0.025862	0.018293	0.007576	0.05	2641.43	33	chr12	2688580	.	G	A	2641.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.651;DP=540;ExcessHet=0;FS=2.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-2.098;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	9	0	1	0
chr12	2868597	2868597	G	T	exonic	FOXM1	.	nonsynonymous SNV	FOXM1:NM_001243088:exon4:c.C809A:p.P270H,FOXM1:NM_001243089:exon4:c.C809A:p.P270H,FOXM1:NM_021953:exon4:c.C812A:p.P271H,FOXM1:NM_202002:exon4:c.C812A:p.P271H,FOXM1:NM_202003:exon4:c.C812A:p.P271H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.420038591669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.475	0.92503	M	-4.2	0.96934	D	-8.23	0.96869	D	0.949	0.95725	1.097	0.99525	D	0.959	0.98687	D	10	0.9567469	0.95043	D	0.420039	0.93774	D	0.963	0.99463	0.806	0.92372	0.970282096251	0.96996	0.799632894517484	0.79917	0.854002154576	0.68679	0.820790827274	0.85149	D	0.39252	0.94278	T	0.585229	0.97323	D	0.602864	0.97280	D	0.999580919742584	0.98022	D	0.911709	0.71997	D	0.9675377	0.98027	0.9459848	0.98152	0.9675377	0.98027	0.9459848	0.98152	-11.957	0.84871	D	.	.	0.872	0.83519	P	.;.;.;.	.;.;.;.	5.681345	0.92999	33	0.99730219253057817	0.82690	0.99299	0.94153	D	AEFGBI	0.937343	0.93498	D	1.07099722339456	0.97559	16.33952	0.997293849673773	0.98574	18.67595	0.999999999963996	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	9.602000	0.97623	9.818000	0.81786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.740	0.91733	912	0.21483	Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain;Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain;Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain;Fork head domain|Fork head domain|Fork head domain|Fork head domain|Fork head domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	832.43	33	chr12	2868597	.	G	T	832.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=400;ExcessHet=0;FS=4.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-0.399;SOR=1.209	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	9	0	1	0
chr12	3021922	3021922	C	T	exonic	TEAD4	.	nonsynonymous SNV	TEAD4:NM_201443:exon8:c.C415T:p.R139C,TEAD4:NM_201441:exon9:c.C673T:p.R225C,TEAD4:NM_003213:exon10:c.C802T:p.R268C	.	433	1076	13	0	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0416035567419	0.0005	0.00139776	0.0015	0	0.0003	0.0002	0	0.0007	0.0022	0.0079	0.001313	203	154602	rs141718322	0.0009	0.0009	0.0006	0.0011	0.0076	0.0008	0.0008	0.0071	0.0069	0.0002	0.0006	0.0034	0.0001	3.744e-05	0.0042	0.0003	0.0013	0.0076	0.0007	0.0007	0.0004	0.0011	0.0068	0.0006	0.0006	0.0050	0.0044	9.621e-05	0	0.0020	0.0035	0.0002	0.0003	0.0034	0.0003	0.0028	0.0068	0.001	0.91255	D	0.005	0.83351	D	.	.	.	.	.	.	0.033385	0.24904	N	0.423325	1	0.81001	D	.	.	.	1.29	0.35775	T	-6.9	0.94326	D	0.738	0.73826	-0.3725	0.72885	T	0.220	0.58279	T	10	0.011027575	0.00243	T	0.041604	0.60019	D	0.287	0.60574	.	.	0.447609009685	0.44385	0.5495088106114524	0.54876	.	.	0.401044994593	0.25214	T	0.486169	0.81636	T	-0.235564	0.15919	T	-0.106021	0.62927	T	0.107860407961492	0.13200	T	0.949205	0.80472	D	.	.	.	.	.	.	.	.	-8.694	0.65707	D	.	.	0.124	0.39477	B	.;.;.	.;.;.	4.627905	0.73545	26.0	0.99924010815693953	0.98980	0.87121	0.46566	D	AEFDBI	0.612795	0.60073	D	0.493373092608545	0.66700	4.984362	0.377567847169519	0.60184	4.203278	0.999999967032275	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.19	4.19	0.48645	1.634000	0.36736	3.911000	0.40409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.672	0.77045	753	0.51500	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2555.43	35	chr12	3021922	.	C	T	2555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.471;DP=531;ExcessHet=0;FS=0.566;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=2.23;SOR=0.77	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1312	9	0	1	0
chr12	3656379	3656379	G	C	exonic	CRACR2A	.	nonsynonymous SNV	CRACR2A:NM_001144958:exon9:c.C790G:p.Q264E,CRACR2A:NM_032680:exon9:c.C790G:p.Q264E	.	.	.	.	.	.	.	.	.	.	.	3661110	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.00626058673992	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs759114289	2.052e-05	2.052e-05	1.906e-05	2.2e-05	0.0002	1.456e-05	1.264e-05	1.663e-05	1.425e-05	0	0	0	0	0	0.0002	2.428e-05	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.471	0.15930	T	0.014	0.62352	D	0.287	0.32229	B	0.085	0.29395	B	0.216346	0.16243	N	0.650048	0.978108	0.25270	N	2.17	0.60663	M	2.03	0.20959	T	-0.75	0.25332	N	0.271	0.30687	-1.0554	0.12934	T	0.035	0.15117	T	10	0.1076518	0.20006	T	0.006261	0.16435	T	0.036	0.09122	0.186	0.09517	0.48512917806	0.48145	0.0645073950868199	0.06389	0.109411626033	0.12343	0.264480859041	0.05436	T	0.012387	0.10895	T	-0.260365	0.12858	T	-0.514918	0.20812	T	0.310646742582321	0.25441	T	0.724428	0.34443	T	0.10032192	0.23686	0.11004221	0.26529	0.10032192	0.23685	0.11004221	0.26529	-10.168	0.74911	D	.	.	0.083	0.09045	B	.;.	.;.	2.860251	0.37787	20.6	0.64193899844450319	0.07427	0.97301	0.73892	D	AEFDBI	0.613127	0.60094	D	-0.00993565646099931	0.41403	2.475977	0.143907255306722	0.46820	2.921823	0.999895055294405	0.45129	0.706298	0.61202	0	0.653731	0.59785	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.87	4.87	0.62877	4.292000	0.58826	5.007000	0.46640	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.8142:0.1858	11.036	0.47018	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	599.43	36	chr12	3656379	.	G	C	599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.934;DP=377;ExcessHet=0;FS=5.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.95;ReadPosRankSum=0.656;SOR=0.565	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1107	9	0	1	0
chr12	3673464	3673464	A	T	exonic	CRACR2A	.	nonsynonymous SNV	CRACR2A:NM_001144958:exon7:c.T653A:p.L218Q,CRACR2A:NM_032680:exon7:c.T653A:p.L218Q	.	428	1082	10	2	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.031340989727	0.0019	0.000599042	0.0018	9.61e-05	0.0020	0	0	0.0027	0.0022	0.0004	0.0016817	260	154602	rs144274217	0.0013	0.0013	0.0013	0.0013	0.0130	0.0013	0.0013	0.0106	0.0098	0.0004	0.0021	0.0310	0	1.872e-05	0.0130	0.0006	0.0032	0.0006	0.0016	0.0016	0.0015	0.0017	0.0029	0.0014	0.0014	0.0022	0.0020	0.0003	0	0.0029	0.0285	0	0	0.0340	0.0010	0.0028	0.0008	0.002	0.78490	D	0.0	0.92824	D	0.999	0.90584	D	0.987	0.77487	D	0.000001	0.62929	D	0.052067	0.779664	0.34251	D	3.07	0.87108	M	1.97	0.26588	T	-3.72	0.76980	D	0.84	0.83576	-0.6812	0.61316	T	0.151	0.47979	T	10	0.010391712	0.00231	T	0.031341	0.53444	D	0.324	0.64624	.	.	0.842805522677	0.84130	0.5434982360544246	0.54275	0.467350245832	0.46119	0.532252430916	0.43352	T	0.330346	0.70054	T	-0.227509	0.16981	T	-0.105125	0.62997	T	0.100992852795639	0.12466	T	0.928457	0.74652	D	0.7320854	0.79841	0.6412755	0.79040	0.7320854	0.79843	0.6412755	0.79041	-11.59	0.82796	D	.	.	0.372	0.57927	A	.;.	.;.	5.055976	0.84244	28.3	0.99109044399682489	0.52674	0.98326	0.81656	D	AEFDGBI	0.897588	0.83993	D	0.568687741954592	0.71225	5.618916	0.501084574439941	0.68063	5.168736	0.999652754657121	0.41424	0.732398	0.92422	0	0.724815	0.89359	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	4.55	4.55	0.55429	8.632000	0.90760	10.961000	0.84462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	1.0:0.0:0.0:0.0	11.865	0.51768	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.025253	0.017663	0.023392	0.000000	0.017241	0.000000	0.003788	0.05	946.43	35	chr12	3673464	.	A	T	946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.65;SOR=0.793	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	9	0	1	0
chr12	4548716	4548716	G	A	exonic	RAD51AP1	.	nonsynonymous SNV	RAD51AP1:NM_006479:exon6:c.G436A:p.V146I,RAD51AP1:NM_001130862:exon7:c.G487A:p.V163I	.	424	1059	38	1	0	40	0.0185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0035	0.00359425	0.0054	0.0011	0.0024	0	0.0014	0.0053	0.0066	0.0154	0.0051228	792	154602	rs114193736	0.0063	0.0063	0.0060	0.0065	0.0151	0.0062	0.0061	0.0144	0.0141	0.0010	0.0024	0.0006	2.519e-05	0.0010	0.0057	0.0066	0.0055	0.0151	0.0034	0.0034	0.0036	0.0032	0.0118	0.0032	0.0031	0.0093	0.0085	0.0010	0.0011	0.0033	0.0003	0	0.0007	0.0136	0.0052	0.0028	0.0118	0.623	0.08458	T	0.297	0.21745	T	0.002	0.09854	B	0.002	0.06944	B	0.309231	0.04004	N	1.490830	1	0.08975	N	1.32	0.33002	L	1.49	0.31470	T	-0.24	0.11366	N	0.074	0.06587	-1.0533	0.13493	T	0.034	0.14639	T	10	0.0030179322	0.00049	T	.	.	.	0.011	0.01250	.	.	0.171388866994	0.16791	0.012136688093202803	0.01172	0.0797471840611	0.08979	0.218657553196	0.01233	T	0.001945	0.01356	T	-0.654249	0.00068	T	-0.699586	0.05848	T	0.000695740826581034	0.00006	T	0.529047	0.17505	T	0.017670278	0.00293	0.016657619	0.00019	0.017670278	0.00293	0.016657619	0.00019	-3.565	0.17742	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	-1.394296	0.00364	0.007	0.63327562369559387	0.07195	0.01624	0.05244	N	AEFBI	0.054611	0.09945	N	-1.41984862399728	0.02464	0.1088679	-1.52658162101311	0.02141	0.09803702	0.90136843482508	0.26099	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	4.97	-5.89	0.02093	-1.175000	0.03211	-1.842000	0.04627	-0.678000	0.04252	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.265:0.1713:0.4169:0.1468	1.902	0.03072	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.003788	0.05	223.43	33	chr12	4548716	.	G	A	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=354;ExcessHet=0;FS=2.969;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.75;ReadPosRankSum=-0.684;SOR=1.363	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1070	9	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	1238.83	54	chr12	4591261	.	G	C	1238.83	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.278;DP=748;ExcessHet=4.5998;FS=280.048;InbreedingCoeff=-0.4825;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.78;ReadPosRankSum=1.18;SOR=10.841	GT:AD:DP:GQ:PL	./.:20,0:20:0:0,0,258	5	0	4	1
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	177.49	40	chr12	4591262	.	T	C	177.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.537;DP=578;ExcessHet=0.7463;FS=186.015;InbreedingCoeff=-0.1777;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=0.63;SOR=8.155	GT:AD:DP:GQ:PL	0/0:37,0:37:77:0,77,901	7	0	3	0
chr12	4628490	4628490	T	C	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.A412G:p.M138V,AKAP3:NM_006422:exon5:c.A412G:p.M138V	.	.	.	.	.	.	.	.	.	.	.	2326652	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.308	0.0164490450025	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750998559	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.979	0.59044	D	0.982	0.75477	D	0.000001	0.84330	D	0.000000	0.592748	0.32470	D	1.83	0.48079	L	2.46	0.48460	T	-2.61	0.70191	D	0.718	0.72031	-0.2407	0.76608	T	0.280	0.65189	T	10	0.5801972	0.65806	D	0.016449	0.37712	T	0.308	0.62947	0.434	0.48500	0.689273411809	0.68660	0.47796679930284414	0.47716	0.57297603563	0.53367	0.506057024002	0.39671	T	0.246239	0.65573	T	0.0840509	0.62510	D	0.0520851	0.73722	D	0.960550129413605	0.65835	D	0.881012	0.60027	D	0.7642068	0.81702	0.7888801	0.87576	0.7642068	0.81704	0.7888801	0.87577	-3.379	0.14775	T	.	.	0.239	0.59347	B	.;.;.	.;.;.	3.987191	0.58662	24.0	0.99475829838298802	0.66579	0.88945	0.49125	D	AEFBI	0.646400	0.62195	D	0.657119127048591	0.76830	6.559435	0.610402455980223	0.75695	6.356123	0.973345022412714	0.29447	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.76	4.76	0.60189	4.572000	0.60600	7.868000	0.71808	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	12.171	0.53463	680	0.59965	RII binding domain;RII binding domain;RII binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2682.43	35	chr12	4628490	.	T	C	2682.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=1292;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.75;SOR=0.766	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	9	0	1	0
chr12	5044781	5044781	C	A	exonic	KCNA5	.	nonsynonymous SNV	KCNA5:NM_002234:exon1:c.C634A:p.R212S	Atrial fibrillation, familial, 7, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.0569473840702	.	.	8.247e-06	0	8.639e-05	0	0	0	0	0	6.5e-06	1	154602	rs77281462	2.736e-06	2.736e-06	1.361e-06	4.125e-06	2.236e-05	6.4e-07	4.3e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.15	0.32461	T	0.066	0.23586	B	0.038	0.23361	B	0.000005	0.62929	U	0.000000	0.997653	0.44071	D	1.12	0.28775	L	-0.9	0.74896	T	-1.44	0.35399	N	0.205	0.22742	-0.7409	0.58407	T	0.232	0.59855	T	10	0.22267649	0.39025	T	0.056947	0.66788	D	0.268	0.58254	0.443	0.49975	0.902261172282	0.90128	0.848956071584371	0.84857	0.803977751471	0.66377	0.391646742821	0.23901	T	0.492535	0.81645	T	-0.0874159	0.38501	T	-0.280478	0.46755	T	0.231914162635803	0.22042	T	0.819218	0.47714	T	0.1577596	0.35529	0.1628638	0.37809	0.1577596	0.35529	0.1628638	0.37808	-5.112	0.38033	T	.	.	0.360	0.57192	A	.	.	1.569288	0.20094	14.59	0.98572370152057842	0.43128	0.38002	0.25889	N	AEFDBI	0.575463	0.57784	D	-0.434470297960076	0.24269	1.30925	-0.343580411233754	0.26707	1.477002	0.98521278942507	0.30848	0.549168	0.22868	0	0.627178	0.54094	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	4.77	2.8	0.31881	0.610000	0.23950	1.394000	0.26140	-1.053000	0.01634	0.075000	0.22209	1.000000	0.68203	0.006000	0.07323	0.2949:0.5605:0.1446:0.0	8.774	0.33906	675	0.60470	Potassium channel tetramerisation-type BTB domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1900.43	116	chr12	5044781	.	C	A	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.984;SOR=0.701	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	9	0	1	0
chr12	5045880	5045880	G	A	exonic	KCNA5	.	nonsynonymous SNV	KCNA5:NM_002234:exon1:c.G1733A:p.R578K	Atrial fibrillation, familial, 7, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	189357	not_provided|not_specified|Atrial_fibrillation,_familial,_7|Brugada_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012828,MedGen:C2677106,OMIM:612240|MONDO:MONDO:0011001,MedGen:C4551804,OMIM:601144,Orphanet:130	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.232	.	0.0073	0.00319489	0.0054	0.0032	0.0044	0	0.0012	0.0083	0.0022	0.0006	0.0059184	915	154602	rs12720445	0.0091	0.0091	0.0094	0.0088	0.0112	0.0090	0.0089	0.0110	0.0110	0.0016	0.0046	0.0007	0	0.0008	0.0014	0.0112	0.0072	0.0005	0.0059	0.0059	0.0065	0.0053	0.0097	0.0056	0.0055	0.0091	0.0088	0.0022	0.0537	0.0047	0	0	0.0010	0	0.0097	0.0076	0.0002	0.034	0.44029	D	0.467	0.12351	T	0.001	0.07471	B	0.002	0.06944	B	0.028022	0.25665	U	0.285392	0.998303	0.22236	N	2.14	0.59869	M	-4.37	0.97343	D	0.16	0.05217	N	0.188	0.20528	-0.1728	0.78360	T	0.720	0.90382	D	10	0.007783413	0.00177	T	.	.	.	0.232	0.53354	.	.	0.999741823116	0.99973	0.16057698210699195	0.15978	0.642789163195	0.57839	0.417012035847	0.27426	T	0.206817	0.56627	T	-0.260844	0.12801	T	-0.136429	0.60426	T	0.00380054392776235	0.00040	T	0.558744	0.19484	T	0.20395814	0.42489	0.15977775	0.37247	0.20395814	0.42489	0.15977775	0.37246	-4.196	0.26694	T	.	.	0.088	0.11461	B	.	.	2.438513	0.31384	18.72	0.96580960013629913	0.30333	0.60035	0.31081	D	AEFDGBI	0.228213	0.35192	N	-0.348400938143617	0.27330	1.498663	-0.223004349494425	0.30714	1.731695	0.199068840110619	0.18099	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	4.76	4.76	0.60189	1.772000	0.38182	7.265000	0.57972	0.590000	0.31872	0.908000	0.31627	1.000000	0.68203	0.344000	0.25523	0.1699:0.0:0.8301:0.0	8.84	0.34294	683	0.59664	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2557.43	36	chr12	5045880	.	G	A	2557.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.018;DP=557;ExcessHet=0;FS=1.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.032;SOR=0.839	GT:AD:DP:GQ:PL	0/1:100,101:201:99:2569,0,2460	9	0	1	0
chr12	5952518	5952518	C	G	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon49:c.G7988C:p.R2663P	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	1	1513	7	1	0	9	0.0029654	0.0003	0.01	YES	360133	not_specified|von_Willebrand_disease_type_2|von_Willebrand_disease_type_1|von_Willebrand_disease_type_3|not_provided|Thrombocytopenia|Abnormal_bleeding|Abnormality_of_coagulation	MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0236938711446	0.0013	0.000998403	0.0016	0.0002	0.0008	0	0.0015	0.0024	0.0011	0.0006	0.0014877	230	154602	rs149834874	0.0014	0.0014	0.0013	0.0014	0.0017	0.0013	0.0013	0.0015	0.0015	0.0004	0.0014	0	0	0.0014	0.0017	0.0015	0.0013	0.0004	0.0012	0.0012	0.0012	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0	0	0.0008	0	0.0019	0.0014	0.0006	0.313	0.13879	T	0.325	0.18846	T	0.0	0.02946	B	0.001	0.04355	B	0.065177	0.21900	N	0.250565	0.970395	0.25706	N	1.16	0.29674	L	1.41	0.33412	T	0.55	0.02721	N	0.111	0.09772	-1.0814	0.07079	T	0.038	0.16290	T	10	0.0086913705	0.00197	T	0.023694	0.46671	T	0.258	0.56959	.	.	0.543910352347	0.54045	0.867760735877811	0.86741	0.398802310197	0.40933	0.28270149231	0.07872	T	0.276731	0.64933	T	-0.331171	0.06023	T	-0.254029	0.49419	T	0.0169920961985357	0.00448	T	0.705929	0.31637	T	0.12809867	0.29959	0.109375544	0.26359	0.12809867	0.29958	0.109375544	0.26358	-1.665	0.02139	T	0.047821547986899686	0.00713	0.124	0.26200	B	.	.	1.787980	0.22733	15.74	0.96392434450052522	0.29658	0.37929	0.25873	N	AEFBCI	0.296467	0.40630	N	-0.540539442627174	0.20781	1.098077	-0.410511227274071	0.24689	1.353379	0.00578721701590042	0.11042	0.631515	0.41029	0	0.563428	0.19063	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.36	2.2	0.26966	1.665000	0.37066	-1.185000	0.06085	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.227000	0.22653	0.0:0.4275:0.4791:0.0934	8.229	0.30750	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	780.43	33	chr12	5952518	.	C	G	780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.157;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1251	9	0	1	0
chr12	6016542	6016542	T	C	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon30:c.A5285G:p.Q1762R	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	3393373	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.378	0.135245213885	.	.	0.0001	0	0	0	0	1.511e-05	0	0.0009	0.0001035	16	154602	rs199729586	8.004e-05	8.003e-05	5.309e-05	0.0001	0.0011	6.801e-05	6.355e-05	0.0009	0.0009	0	0	0	0	0	0	1.619e-05	4.968e-05	0.0011	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.303	0.14352	T	0.369	0.16522	T	0.611	0.39680	P	0.346	0.42645	B	0.000748	0.42006	D	0.000000	0.988173	0.40716	D	1.63	0.41750	L	-1.07	0.76948	T	-0.77	0.21429	N	0.386	0.42737	-0.3946	0.72197	T	0.366	0.72613	T	10	0.08679381	0.14790	T	0.135245	0.81770	D	0.378	0.69612	.	.	0.580379909603	0.57708	0.6347798822703247	0.63411	0.757803639477	0.64090	0.472585439682	0.35035	T	0.339001	0.70820	T	-0.2244	0.17396	T	-0.151459	0.59114	T	0.112820915937742	0.13714	T	0.615438	0.23533	T	0.4852627	0.66218	0.25480202	0.51151	0.4852627	0.66219	0.25480202	0.51150	-2.951	0.09663	T	0.2081873532365837	0.27843	0.089	0.12181	B	.	.	2.401060	0.30846	18.56	0.99040350644087538	0.51006	0.87449	0.46992	D	AEFDGBI	0.436555	0.49672	N	0.0936789595619178	0.46167	2.86139	0.137657294746969	0.46491	2.894288	0.995202756572164	0.34004	0.67177	0.52595	0	0.59043	0.45803	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	4.34	4.34	0.51267	2.324000	0.43491	2.285000	0.31922	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:0.0:1.0	12.817	0.57055	952	0.10565	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2168.43	34	chr12	6016542	.	T	C	2168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=515;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.68;MQRankSum=-0.637;QD=11.53;ReadPosRankSum=1.26;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	9	0	1	0
chr12	6492958	6492958	T	C	exonic	MRPL51	.	nonsynonymous SNV	MRPL51:NM_016497:exon2:c.A94G:p.I32V	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00619917486402	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340265704	7.525e-06	7.525e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	6.296e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.09022	T	0.532	0.10034	T	0.0	0.02946	B	0.0	0.01387	B	0.774717	0.09519	N	0.908121	1	0.08975	N	-0.345	0.03330	N	1.01	0.41058	T	0.09	0.05917	N	0.125	0.11769	-1.0217	0.23162	T	0.038	0.16203	T	10	0.04325351	0.03155	T	0.006199	0.16259	T	0.019	0.03383	0.254	0.19378	0.0762999501168	0.06990	0.31090213137880857	0.31003	0.325946002528	0.34745	0.337213128805	0.16021	T	0.012602	0.11050	T	-0.345329	0.05027	T	-0.733817	0.04157	T	0.0399609506130219	0.03683	T	0.494051	0.15283	T	0.11791804	0.27790	0.11224551	0.27083	0.11791804	0.27790	0.11224551	0.27082	-2.456	0.05487	T	.	.	0.072	0.04396	B	.	.	-0.224456	0.02968	0.441	0.42955560844786317	0.03201	0.03803	0.09135	N	AEFDGBHCI	0.170322	0.29722	N	-1.70709090647437	0.00817	0.03531872	-1.7940471919734	0.00778	0.03471953	0.999999999994056	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.96	-9.6	0.00464	-0.005000	0.12791	0.325000	0.17225	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.31:0.3104:0.0:0.3796	5.990	0.18684	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1432.43	40	chr12	6492958	.	T	C	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=466;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.27;SOR=1.038	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1424	9	0	1	0
chr12	6521963	6521963	C	T	exonic	NCAPD2	.	nonsynonymous SNV	NCAPD2:NM_014865:exon15:c.C1880T:p.A627V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0313972179158	.	.	2.471e-05	0	0	0	0	4.496e-05	0	0	1.94e-05	3	154602	rs759517573	3.147e-05	3.147e-05	3.131e-05	3.163e-05	4.047e-05	2.412e-05	2.157e-05	3.085e-05	2.753e-05	0	0	0	0	0	0	4.047e-05	1.656e-05	0	2.627e-05	2.625e-05	1.285e-05	4.031e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0	4.411e-05	0	0	0.017	0.51248	D	0.021	0.59732	D	0.985	0.61118	D	0.834	0.59825	P	0.000000	0.84330	D	0.049795	0.999921	0.51968	D	1.495	0.37439	L	2.12	0.39586	T	-2.13	0.48354	N	0.608	0.62526	-0.8435	0.52413	T	0.172	0.51373	T	10	0.36485195	0.53019	T	0.031397	0.53490	D	0.199	0.48268	0.487	0.57098	0.676786465919	0.67404	0.44084035203941996	0.44001	0.619825417113	0.56322	0.494486957788	0.38061	T	0.050196	0.28526	T	-0.0567938	0.43408	T	-0.162991	0.58081	T	0.480961829423904	0.31932	T	0.89681	0.63970	D	0.22252454	0.44853	0.23695776	0.48981	0.22252454	0.44853	0.23695776	0.48980	-9.497	0.70840	D	.	.	0.411	0.61765	A	.;.	.;.	4.538330	0.71308	25.7	0.99914957691676953	0.98309	0.98522	0.83679	D	AEFBI	0.605520	0.59620	D	0.522188758138162	0.68402	5.212508	0.567011983073682	0.72588	5.833714	0.999999996926438	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	5.200000	0.64994	7.588000	0.61163	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:1.0:0.0:0.0	20.242	0.98383	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	694.43	33	chr12	6521963	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=1.82;SOR=0.756	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1079	9	0	1	0
chr12	6557110	6557110	A	T	exonic	NOP2	.	nonsynonymous SNV	NOP2:NM_001033714:exon16:c.T2310A:p.N770K,NOP2:NM_001258308:exon16:c.T2322A:p.N774K,NOP2:NM_006170:exon16:c.T2310A:p.N770K,NOP2:NM_001258309:exon17:c.T2421A:p.N807K	.	.	.	.	.	.	.	.	.	.	.	4000686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.00523207139575	8.3e-05	.	9.127e-05	0.0002	0.0004	0	0	6.006e-05	0	0	7.12e-05	11	154602	rs372507324	0.0001	0.0001	0.0001	0.0001	0.0006	9.671e-05	9.15e-05	0.0004	0.0004	0.0004	0.0006	0	0	0	0.0002	9.713e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0020	0.0002	0.0002	0.0015	0.0013	0.0003	0	0.0020	0	0	0	0	4.41e-05	0.0005	0	0.004	0.72154	D	0.194	0.28482	T	0.005	0.15093	B	0.002	0.11217	B	0.012962	0.28994	N	0.247186	0.999999	0.58761	D	2.255	0.64187	M	2.51	0.14284	T	-0.24	0.10833	N	0.129	0.25006	-1.0749	0.08369	T	0.031	0.13374	T	10	0.025722384	0.00757	T	0.005232	0.13341	T	0.039	0.10176	0.173	0.07894	0.206339911435	0.20273	0.03307327377397651	0.03255	0.104967734131	0.11866	0.398771762848	0.24898	T	0.004784	0.04195	T	-0.550784	0.00289	T	-0.670359	0.07585	T	0.0491795451837496	0.05356	T	0.723528	0.33695	T	0.059573367	0.12123	0.055600833	0.09783	0.059573367	0.12123	0.055600833	0.09782	-4.673	0.34404	T	.	.	0.083	0.22500	B	.;.;.;.;.;.	.;.;.;.;.;.	2.170547	0.27657	17.54	0.96564318006690419	0.30272	0.59602	0.30961	D	AEFDBCI	0.148974	0.27297	N	-0.348364988093005	0.27332	1.498746	-0.277036323454217	0.28857	1.612179	0.999753466358445	0.42595	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	2.58	0.30011	0.663000	0.24735	1.210000	0.24900	0.756000	0.94297	0.859000	0.30595	0.930000	0.28522	0.018000	0.11154	0.698:0.2022:0.0998:0.0	4.926	0.13244	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1732.43	119	chr12	6557110	.	A	T	1732.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.56;DP=440;ExcessHet=0;FS=2.37;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=1.59;SOR=0.977	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1031	9	0	1	0
chr12	6826801	6826801	A	G	exonic	GPR162	.	nonsynonymous SNV	GPR162:NM_014449:exon5:c.A512G:p.Y171C,GPR162:NM_019858:exon5:c.A1364G:p.Y455C	.	417	1088	16	1	0	18	0.00820419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	.	.	0.0153754	0.0087	0.0003	0.0003	0	0	0.0002	0.0058	0.0702	0.0076648	1185	154602	rs200776021	0.0039	0.0040	0.0022	0.0056	0.0609	0.0038	0.0038	0.0595	0.0590	0.0002	0.0002	0.0005	0.0001	1.882e-05	0.0017	0.0002	0.0045	0.0609	0.0023	0.0023	0.0012	0.0035	0.0699	0.0021	0.0021	0.0638	0.0614	0.0002	0	0.0001	0.0006	0.0002	0	0	7.352e-05	0.0009	0.0699	0.011	0.55530	D	0.121	0.46182	T	0.964	0.55854	D	0.431	0.45421	B	.	.	.	.	0.924275	0.28162	N	0.975	0.24501	L	3.07	0.44856	T	-0.93	0.45769	N	0.222	0.34659	-1.0747	0.08410	T	0.073	0.29643	T	9	0.0024323761	0.00036	T	.	.	.	0.131	0.35738	.	.	0.705647642926	0.70308	0.36747106216787534	0.36661	0.0129100740628	0.01244	0.549777626991	0.45826	T	0.017868	0.14505	T	-0.388125	0.02765	T	-0.283955	0.46397	T	0.0392571802638366	0.03555	T	0.814119	0.47860	T	0.092583135	0.21723	0.097328715	0.23163	0.092583135	0.21723	0.097328715	0.23162	-3.257	0.13189	T	.	.	0.143	0.42706	B	.;.;.	.;.;.	3.280760	0.44954	22.0	0.97989335285926371	0.37386	0.90365	0.51483	D	AEFDBI	0.486598	0.52570	N	0.05883314964417	0.44549	2.726987	0.111857592802175	0.45154	2.783664	0.999996469712339	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.24	4.24	0.49486	1.749000	0.37946	9.283000	0.79730	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.776000	0.36750	0.7533:0.0:0.0:0.2467	7.494	0.26650	549	0.72275	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	502.43	41	chr12	6826801	.	A	G	502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.1;DP=432;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.471;SOR=0.655	GT:AD:DP:GQ:PL	0/1:22,19:41:99:514,0,532	9	0	1	0
chr12	6849373	6849373	G	A	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon5:c.C526T:p.L176F,CDCA3:NM_031299:exon5:c.C601T:p.L201F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0074109188078	7.7e-05	.	2.584e-05	0	0	0	0.0002	3.062e-05	0	0	1.94e-05	3	154602	rs142590132	5.642e-05	5.815e-05	7.113e-05	4.153e-05	0.0002	4.636e-05	4.261e-05	5.818e-05	5.385e-05	0	0	0	0	1.882e-05	0.0002	7.131e-05	1.666e-05	0	3.944e-05	4.597e-05	5.141e-05	2.691e-05	7.351e-05	1.716e-05	1.13e-05	2.847e-05	1.858e-05	2.415e-05	0	0	0	0	0	0	7.351e-05	0	0	0.127	0.27080	T	0.161	0.31326	T	0.987	0.61912	D	0.871	0.61869	P	0.003366	0.35041	N	0.244844	0.967443	0.81001	D	2.455	0.71248	M	.	.	.	-1.88	0.43906	N	0.396	0.48872	-0.6504	0.62697	T	0.261	0.63242	T	9	0.270786	0.44612	T	0.007411	0.19657	T	0.109	0.30843	.	.	0.357630699053	0.35373	0.3162373606347213	0.31536	0.746265164616	0.63538	0.460998803377	0.33447	T	0.058302	0.30805	T	-0.00233416	0.51332	T	-0.171291	0.57324	T	0.82810652256012	0.48384	D	0.713829	0.33984	T	0.10994616	0.25992	0.11020066	0.26570	0.10994616	0.25992	0.11020066	0.26569	-4.879	0.35498	T	.	.	0.453	0.62917	A	.;.;.	.;.;.	4.631608	0.73641	26.0	0.99855734775487026	0.93458	0.78649	0.38835	D	AEFDBCI	0.448986	0.50399	N	0.478464808803987	0.65833	4.872613	0.456200439219941	0.65115	4.783263	0.999973521840527	0.50053	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.08	4.19	0.48645	3.858000	0.55690	8.624000	0.77824	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.1682:0.0:0.8318:0.0	9.427	0.37751	560	0.71333	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2548.43	42	chr12	6849373	.	G	A	2548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=532;ExcessHet=0;FS=1.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.677;SOR=0.559	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1145	9	0	1	0
chr12	6855791	6855791	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C148A:p.P50T,USP5:NM_001382589:exon2:c.C148A:p.P50T,USP5:NM_001098536:exon3:c.C274A:p.P92T,USP5:NM_001382590:exon3:c.C136A:p.P46T,USP5:NM_001382591:exon3:c.C274A:p.P92T,USP5:NM_003481:exon3:c.C274A:p.P92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0190983388437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.598	0.44910	P	0.408	0.51231	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.105	0.58435	M	1.8	0.25344	T	-5.61	0.87911	D	0.683	0.73195	-0.9441	0.41960	T	0.133	0.44484	T	10	0.6691886	0.70609	D	0.019098	0.41369	T	0.293	0.61272	0.342	0.33464	0.475375588166	0.47167	0.7578345136441068	0.75731	0.918765570636	0.71367	0.66427052021	0.62020	T	0.700227	0.91362	D	0.0845996	0.62575	D	-0.116255	0.62108	T	0.993655204772949	0.84541	D	0.945605	0.79272	D	0.7458478	0.80628	0.58224964	0.75783	0.7458478	0.80629	0.58224964	0.75783	-6.68	0.52863	T	.	.	0.354	0.82272	A	.;.;.	.;.;.	3.973346	0.58361	24.0	0.99809938144482013	0.89353	0.99725	0.98989	D	AEFBI	0.875273	0.79859	D	0.530194145179642	0.68885	5.279055	0.530638039307535	0.70064	5.45025	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	111.43	63	chr12	6855791	.	C	A	111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.758;DP=451;ExcessHet=0;FS=36.128;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.056;SOR=3.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1128:.	9	0	1	0
chr12	6935550	6935550	G	C	exonic	ATN1	.	nonsynonymous SNV	ATN1:NM_001007026:exon5:c.G283C:p.E95Q,ATN1:NM_001940:exon5:c.G283C:p.E95Q	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0114058659689	.	.	0.0003	9.623e-05	8.663e-05	0	0	9.026e-05	0.0011	0.0014	0.000207	32	154602	rs782695665	0.0001	0.0001	5.46e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	0	0	0	0	0.0005	1.355e-05	0.0001	0.0018	7.884e-05	7.874e-05	2.571e-05	0.0001	0.0023	4.496e-05	3.512e-05	0.0013	0.0010	0	0	0	0	0	0	0	1.47e-05	0	0.0023	0.002	0.72154	D	0.034	0.52727	D	0.958	0.54977	D	0.66	0.52803	P	0.006546	0.31955	U	0.000000	0.999914	0.51042	D	1.525	0.38595	L	0.96	0.42888	T	-1.57	0.37955	N	0.319	0.35938	-1.0205	0.23551	T	0.134	0.44720	T	10	0.04941684	0.04528	T	0.011406	0.29007	T	0.116	0.32463	0.314	0.28935	0.414205011594	0.41037	0.13961209695039614	0.13884	0.419750306863	0.42519	0.742917180061	0.73402	T	0.406644	0.76249	T	-0.43951	0.01302	T	-0.42873	0.30079	T	0.186328278953814	0.19626	T	0.767423	0.39577	T	0.3278539	0.55295	0.20029895	0.43953	0.29329574	0.52298	0.2567121	0.51375	-4.018	0.24072	T	.	.	0.500	0.65542	A	.;.	.;.	4.548344	0.71561	25.7	0.99747845460557016	0.84002	0.97739	0.76783	D	AEFDBCIJ	0.807797	0.73175	D	0.292508160531482	0.55769	3.740948	0.272904537313441	0.53962	3.562882	0.999999999997571	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.95	3.95	0.44952	7.337000	0.78502	11.735000	0.95074	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.739000	0.35404	0.0:0.0:1.0:0.0	14.730	0.68987	764	0.49969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1962.43	38	chr12	6935550	.	G	C	1962.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.37;DP=567;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-3.155;SOR=0.711	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,115,1391	9	0	1	0
chr12	6936728	6936728	-	CAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1461_1462insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.Q502_H503insQQQQQQQQQQ,ATN1:NM_001940:exon5:c.1461_1462insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG:p.Q502_H503insQQQQQQQQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352372	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	3.103e-05	0	0.0004	0.0012	0.0002	0	0.0001	0.0003	0.0003	0.0004	0.0004	0.0005	0.0004	0.0006	0.0004	0.0003	0.0005	0.0004	0.0002	0	0.0001	0.0009	0.0006	0.0003	0	0.0006	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	9342.27	64	chr12	6936728	.	A	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	9342.27	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.394;DP=728;ExcessHet=0.0125;FS=0;InbreedingCoeff=0.5286;MLEAC=1;MLEAF=0.056;MQ=59.97;MQRankSum=0;QD=31.56;ReadPosRankSum=-0.501;SOR=0.667	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	8	0	1	1
chr12	7091773	7091773	C	T	exonic	C1R	.	stopgain	C1R:NM_001354346:exon1:c.G44A:p.W15X	Ehlers-Danlos syndrome, periodontal type, 1, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	.	3203274	C1R-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0120	0	0	0.0026	0	0	0.0055	0.0269	0.0017529	271	154602	rs367785162	0.0032	0.0029	0.0015	0.0046	0.0277	0.0030	0.0030	0.0266	0.0261	0.0003	8.641e-05	0	3.115e-05	0	0.0005	9.464e-06	0.0016	0.0277	0.0011	0.0011	0.0005	0.0016	0.0335	0.0009	0.0009	0.0293	0.0277	0	0	6.538e-05	0	0	0	0	0	0.0005	0.0335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.687	0.69300	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.788799	0.00009	T	-0.884882	0.00615	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.729985	0.01253	0.065	0.61694685726672127	0.06773	0.00797	0.03252	N	AEFDBCIJ	0.174399	0.30153	N	-1.63503674367357	0.01099	0.04773559	-1.8518245417621	0.00607	0.02697177	0.999999990106296	0.74766	0.403107	0.06075	0	0.541556	0.11502	0	0.467745	0.07146	0	0.562822	0.20929	0	.	.	3.92	-7.56	0.01180	-1.186000	0.03179	-6.457000	0.01393	-2.934000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1236:0.1908:0.0:0.6857	8.454	0.32052	624	0.65661	.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	748.43	40	chr12	7091773	.	C	T	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.61;DP=384;ExcessHet=0;FS=2.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-0.078;SOR=0.446	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1215	9	0	1	0
chr12	7097014	7097014	-	A	exonic	C1RL	.	frameshift insertion	C1RL:NM_001297640:exon5:c.714dupT:p.A239Cfs*30,C1RL:NM_001297642:exon6:c.887dupT:p.L297Afs*208,C1RL:NM_016546:exon6:c.840dupT:p.A281Cfs*30	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.257e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs748303307	6.841e-06	6.84e-06	1.089e-05	2.75e-06	0.0002	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.093e-06	0	0	6.571e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2354.39	39	chr12	7097014	.	C	CA	2354.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.559;DP=507;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=0.858;SOR=0.647	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr12	7136265	7136265	A	G	exonic	CLSTN3	.	nonsynonymous SNV	CLSTN3:NM_014718:exon6:c.A802G:p.I268V	.	428	1089	4	1	0	6	0.00274725	.	.	.	3429338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.00515001641632	.	0.000199681	0.0002	0	0	0	0	2.999e-05	0.0011	0.0010	0.0001294	20	154602	rs751947010	9.03e-05	9.029e-05	5.581e-05	0.0001	0.0013	7.756e-05	7.299e-05	0.0011	0.0011	0	0	0	0	1.872e-05	0	8.094e-06	0.0001	0.0013	3.939e-05	3.937e-05	1.285e-05	6.711e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.203	0.20154	T	0.218	0.26066	T	0.046	0.21875	B	0.041	0.23986	B	0.000002	0.62929	D	0.059241	0.969257	0.38715	D	0.95	0.23787	L	2.05	0.20664	T	-0.01	0.07155	N	0.412	0.45237	-1.0732	0.08724	T	0.036	0.15422	T	10	0.04072392	0.02665	T	0.00515	0.13094	T	0.080	0.23350	.	.	0.326275561783	0.32232	0.23090873982282684	0.23005	0.216791673698	0.24200	0.6253516078	0.56486	T	0.01929	0.15396	T	-0.421164	0.01681	T	-0.42819	0.30141	T	0.0788285926661931	0.09837	T	0.889911	0.62289	D	0.06817968	0.14832	0.059710868	0.11252	0.06817968	0.14832	0.059710868	0.11251	-4.036	0.24341	T	.	.	0.120	0.24633	B	.	.	2.833467	0.37365	20.5	0.98677865255441255	0.44568	0.90368	0.51488	D	AEFGBI	0.198447	0.32531	N	-0.238043491055891	0.31582	1.772418	-0.0447828483355448	0.37718	2.212173	0.999874981006185	0.44625	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.82	4.64	0.57399	3.938000	0.56295	11.163000	0.87713	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.8576:0.1424:0.0:0.0	12.228	0.53782	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1561.43	35	chr12	7136265	.	A	G	1561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=499;ExcessHet=0;FS=1.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.407;SOR=0.862	GT:AD:DP:GQ:PL	0/1:97,66:163:99:1573,0,2284	9	0	1	0
chr12	7306539	7306539	G	A	exonic	ACSM4	.	nonsynonymous SNV	ACSM4:NM_001080454:exon2:c.G208A:p.E70K	.	425	1091	5	1	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00553647566486	.	0.000399361	0.0013	0	0	0	0	0	0.0027	0.0062	0.000401	62	154602	rs374650478	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0043	0	0	0	0	0	0.0002	9.078e-07	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	2.407e-05	0	0	0	0	0	0	0	0	0.0058	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.151484	0.17953	U	0.395490	0.619892	0.32696	D	-0.185	0.04235	N	1.12	0.38718	T	1.92	0.00446	N	0.235	0.26475	-0.9945	0.31432	T	0.029	0.12278	T	10	0.0059690475	0.00134	T	0.005536	0.14258	T	0.071	0.20720	.	.	0.151104730317	0.14643	0.601269460778345	0.60057	0.0829935287975	0.09363	0.458443790674	0.33097	T	0.005254	0.04698	T	-0.555805	0.00269	T	-0.569785	0.15470	T	0.0120176397091891	0.00189	T	0.525248	0.17252	T	0.06909028	0.15106	0.074232124	0.16217	0.06909028	0.15106	0.074232124	0.16217	-6.978	0.53873	T	.	.	0.078	0.06663	B	.	.	1.137665	0.15248	11.70	0.099796595188311771	0.00115	0.67371	0.33409	D	AEFGBI	0.187795	0.31509	N	-0.993388137029605	0.08745	0.4111764	-0.765210569381469	0.15349	0.8068178	3.13548131591045E-4	0.06498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.13	3.31	0.37025	1.896000	0.39421	2.949000	0.35703	-0.134000	0.12905	0.997000	0.40164	1.000000	0.68203	0.035000	0.13729	0.1694:0.0:0.8306:0.0	9.959	0.40853	670	0.60992	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	769.43	33	chr12	7306539	.	G	A	769.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=361;ExcessHet=0;FS=6.157;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.365;SOR=1.681	GT:AD:DP:GQ:PL	0/1:32,27:59:99:781,0,849	9	0	1	0
chr12	7814398	7814398	T	C	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon10:c.A1154G:p.H385R,SLC2A14:NM_001286237:exon10:c.A1526G:p.H509R,SLC2A14:NM_001286234:exon11:c.A1412G:p.H471R,SLC2A14:NM_153449:exon12:c.A1481G:p.H494R,SLC2A14:NM_001286235:exon13:c.A1412G:p.H471R,SLC2A14:NM_001286233:exon16:c.A1481G:p.H494R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0100856411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.06164	T	0.553	0.09760	T	0.0	0.02946	B	0.0	0.01387	B	0.026169	0.01644	N	2.494860	1	0.08975	N	0	0.06538	N	-1.55	0.83578	D	-0.48	0.15986	N	0.042	0.02179	-0.8595	0.51298	T	0.268	0.63971	T	10	0.06708786	0.09297	T	0.010086	0.26213	T	0.077	0.22490	0.319	0.29741	0.202312658747	0.19855	0.07857841776487683	0.07792	1.16999158292	0.79730	0.388437628746	0.23449	T	0.005013	0.04439	T	-0.208721	0.19558	T	-0.53759	0.18533	T	0.0435560609636722	0.04339	T	0.0860914	0.00768	T	0.04276032	0.06543	0.033469383	0.02247	0.04276032	0.06543	0.033469383	0.02247	-1.329	0.01530	T	.	.	0.055	0.00405	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.461996	0.01991	0.175	0.63114570802014691	0.07138	0.03655	0.08911	N	AEFDBI	0.091977	0.18625	N	-1.27061638253395	0.04034	0.1813253	-1.30483756309973	0.04367	0.2058388	1.3302885362267E-5	0.02871	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	2.92	0.253	0.14809	-0.404000	0.07267	-0.323000	0.09949	0.341000	0.19778	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.228:0.0:0.2349:0.5371	3.388	0.06854	923	0.18507	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	661.43	77	chr12	7814398	.	T	C	661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.193;DP=560;ExcessHet=0;FS=3.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.63;MQRankSum=1.07;QD=9.59;ReadPosRankSum=-2.261;SOR=0.323	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr12	7829905	7829905	C	T	exonic	SLC2A14	.	nonsynonymous SNV	SLC2A14:NM_001286236:exon4:c.G116A:p.R39H,SLC2A14:NM_001286237:exon4:c.G488A:p.R163H,SLC2A14:NM_001286234:exon5:c.G374A:p.R125H,SLC2A14:NM_153449:exon6:c.G443A:p.R148H,SLC2A14:NM_001286235:exon7:c.G374A:p.R125H,SLC2A14:NM_001286233:exon10:c.G443A:p.R148H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.250104568511	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs770629394	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0005	1.237e-05	1.051e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	7.194e-06	9.934e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.991	0.68779	D	0.908	0.70672	P	0.000000	0.84330	D	0.000000	1	0.81001	D	4.19	0.97772	H	-2.63	0.90083	D	-4.35	0.79482	D	0.956	0.97750	1.016	0.97462	D	0.911	0.97046	D	10	0.90871376	0.90236	D	0.250105	0.89078	D	0.794	0.93227	0.701	0.83777	0.692426550812	0.68978	0.8320408758455037	0.83163	0.884575161911	0.69923	0.666960537434	0.62404	T	0.778155	0.94119	D	0.183383	0.72354	D	0.122495	0.78399	D	0.998473465442657	0.94253	D	0.90141	0.65732	D	0.6279099	0.74187	0.51814383	0.72160	0.6279099	0.74188	0.51814383	0.72161	-11.803	0.84152	D	.	.	0.885	0.83497	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.563426	0.71934	25.7	0.99915286177496332	0.98379	0.92717	0.56374	D	AEFDBHCI	0.814618	0.73680	D	0.729619493222715	0.81575	7.554283	0.509598528790888	0.68635	5.247278	0.824163118982355	0.24576	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.664235	0.64389	0	.	.	3.41	3.41	0.38145	6.824000	0.75078	2.678000	0.33996	0.304000	0.19002	1.000000	0.71638	0.993000	0.31925	0.498000	0.28972	0.0:1.0:0.0:0.0	12.309	0.54242	929	0.16858	.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain;.;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	2038.43	33	chr12	7829905	.	C	T	2038.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=482;ExcessHet=0;FS=6.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.341;SOR=0.677	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	9	0	1	0
chr12	7921495	7921495	T	C	exonic	SLC2A3	.	nonsynonymous SNV	SLC2A3:NM_006931:exon10:c.A1409G:p.H470R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0102898342588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.06204	T	0.555	0.09267	T	0.0	0.02946	B	0.0	0.01387	B	0.026169	0.01644	N	2.494860	1	0.08975	N	0	0.06538	N	-1.63	0.82440	D	-0.38	0.13418	N	0.032	0.00825	-0.8139	0.54312	T	0.252	0.62189	T	10	0.056134492	0.06246	T	0.01029	0.26654	T	0.105	0.29889	0.319	0.29741	0.364535869594	0.36064	0.19283129246143552	0.19201	0.956021407312	0.72823	0.304946601391	0.11144	T	0.069218	0.33653	T	-0.202211	0.20486	T	-0.528239	0.19463	T	0.0452185911149184	0.04643	T	0.0912909	0.00675	T	0.13377987	0.31105	0.09623372	0.22857	0.13377987	0.31105	0.09623372	0.22857	-1.285	0.01377	T	.	.	0.051	0.00191	B	.	.	-0.600511	0.01570	0.104	0.73098621743762038	0.10206	0.11740	0.16831	N	AEFDGBHCI	0.055956	0.10305	N	-1.33322431735497	0.03302	0.1472643	-1.35651975377665	0.03729	0.1745705	0.949699655601946	0.27859	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.3	-3.4	0.04549	-0.539000	0.06202	-0.143000	0.11497	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.1136:0.5364:0.3501	5.915	0.18289	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	87.43	40	chr12	7921495	.	T	C	87.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.872;DP=546;ExcessHet=0;FS=11.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.57;MQRankSum=-8.924;QD=0.55;ReadPosRankSum=-2.36;SOR=1.554	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	9	0	1	0
chr12	7921631	7921631	G	A	exonic	SLC2A3	.	nonsynonymous SNV	SLC2A3:NM_006931:exon10:c.C1273T:p.H425Y	.	434	1077	11	0	0	11	0.00508083	0	0.036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	.	.	.	0.0024	0.0001	0.0004	0.0156	0.0002	0.0003	0.0012	0.0079	3.84e-05	1	26028	rs770553171	0.0002	0.0022	0.0001	0.0002	0.0012	0.0001	0.0001	0.0009	0.0008	3.037e-05	0.0001	0.0002	0.0012	5.627e-05	0.0005	7.071e-05	0.0002	0.0008	9.222e-05	0.0002	6.434e-05	0.0001	0.0002	5.541e-05	4.375e-05	0.0001	8.464e-05	0.0002	0	0.0002	0	0	0	0	1.473e-05	0.0005	0	0.163	0.23450	T	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.004983	0.01056	N	4.198110	0.855	0.28442	N	0.205	0.09354	N	-0.81	0.73949	T	-0.73	0.20576	N	0.123	0.11483	-0.9373	0.43041	T	0.190	0.54183	T	10	0.0065737963	0.00149	T	0.007059	0.18704	T	0.135	0.36572	.	.	0.110392049598	0.10638	0.31962776177751884	0.31875	0.910420114805	0.71036	0.33634775877	0.15890	T	0.233425	0.60022	T	-0.249009	0.14221	T	-0.595461	0.13196	T	0.0172055329646885	0.00463	T	0.010099	0.00053	T	0.09039283	0.21151	0.0590024	0.10998	0.09039283	0.21151	0.0590024	0.10998	-5.003	0.36872	T	.	.	0.093	0.14247	B	.	.	-0.979497	0.00800	0.026	0.62166729519619346	0.06893	0.10348	0.15879	N	AEFDGBHCI	0.044552	0.07182	N	-2.06471239057613	0.00153	0.006548655	-2.18572965001649	0.00120	0.005293652	0.999915294599531	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.0	-8.01	0.00991	-0.829000	0.04522	-2.321000	0.03903	-2.173000	0.00365	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3037:0.2313:0.0846:0.3804	1.304	0.01959	946	0.12043	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004237	0.008929	0.001366	0.013043	0.000000	0.000000	0.000000	0.008264	0.05	37.43	40	chr12	7921631	.	G	A	37.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.858;DP=369;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-5.808;QD=0.94;ReadPosRankSum=-1.005;SOR=0.269	GT:AD:DP:GQ:PL	0/0:27,0:27:60:0,60,900	9	0	1	0
chr12	8059258	8059258	-	CTCAGA	exonic	C3AR1	.	nonframeshift insertion	C3AR1:NM_001326475:exon2:c.927_928insTCTGAG:p.E309_L310insSE,C3AR1:NM_001326477:exon2:c.927_928insTCTGAG:p.E309_L310insSE,C3AR1:NM_004054:exon2:c.927_928insTCTGAG:p.E309_L310insSE	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.058e-05	3.84e-05	1	26028	rs761377451	1.642e-05	1.642e-05	6.806e-06	2.613e-05	0.0002	1.111e-05	9.33e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.169e-05	8.279e-05	5.797e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1780.39	33	chr12	8059258	.	G	GCTCAGA	1780.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.67;DP=465;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.134;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	9	0	1	0
chr12	8456134	8456134	A	C	exonic	CLEC6A	.	nonsynonymous SNV	CLEC6A:NM_001007033:exon1:c.A23C:p.Q8P,CLEC6A:NM_001317999:exon1:c.A23C:p.Q8P	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0058	0.0119808	0.0089	0.0019	0.0117	0	0.0015	0.0097	0.0089	0.0159	0.0092819	1435	154602	rs118084065	0.0099	0.0099	0.0098	0.0101	0.0159	0.0098	0.0097	0.0152	0.0149	0.0018	0.0108	0.0315	5.041e-05	0.0009	0.0103	0.0098	0.0123	0.0159	0.0080	0.0080	0.0082	0.0077	0.0159	0.0076	0.0075	0.0131	0.0120	0.0022	0.1031	0.0108	0.0337	0	0.0009	0.0204	0.0093	0.0109	0.0159	0.007	0.59928	D	0.008	0.67890	D	0.94	0.52768	P	0.272	0.39956	B	0.319473	0.14295	N	0.520295	1	0.08975	N	2.07	0.56829	M	3.29	0.06445	T	-1.55	0.37566	N	0.306	0.34552	-0.9950	0.31299	T	0.005	0.01506	T	10	0.0031131506	0.00052	T	.	.	.	0.040	0.10527	.	.	0.453588565359	0.44983	0.2530612940756762	0.25220	0.225619827505	0.25111	0.264399886131	0.05426	T	0.10257	0.41042	T	-0.550518	0.00290	T	-0.549931	0.17333	T	0.00599623502293781	0.00066	T	0.39826	0.10085	T	0.1970939	0.41561	0.17639962	0.40171	0.1970939	0.41561	0.17639962	0.40170	-3.316	0.13945	T	.	.	0.061	0.01126	B	.	.	1.401166	0.18154	13.58	0.92700504507297832	0.22191	0.09450	0.15203	N	AEFDGBCI	0.063924	0.12382	N	-0.441514636209237	0.24028	1.29459	-0.667939832498965	0.17764	0.9460425	0.999422505522612	0.39630	0.497415	0.19182	0	0.475579	0.06741	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.1	0.64	0.16924	1.315000	0.33214	1.090000	0.23972	0.567000	0.28720	0.010000	0.18352	0.000000	0.08366	0.021000	0.11733	0.6021:0.2567:0.1412:0.0	3.054	0.05807	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.006793	0.002924	0.000000	0.008621	0.012195	0.011364	0.05	414.43	34	chr12	8456134	.	A	C	414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.976;DP=368;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=2.37;SOR=0.693	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1202	9	0	1	0
chr12	8847610	8847610	A	G	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon4:c.A272G:p.Q91R,A2ML1:NM_144670:exon15:c.A1745G:p.Q582R	.	.	.	.	.	.	.	.	.	.	.	399243	not_specified|A2ML1-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.071	0.0115633643904	0.0017	0.00139776	0.0006	0.0063	0.0003	0	0	3.003e-05	0	6.112e-05	0.0004851	75	154602	rs200271507	0.0002	0.0002	0.0003	0.0002	0.0079	0.0002	0.0002	0.0071	0.0068	0.0079	0.0003	0	0	0	0.0005	5.397e-06	0.0004	4.642e-05	0.0021	0.0021	0.0020	0.0021	0.0073	0.0019	0.0018	0.0066	0.0064	0.0073	0	0.0005	0	0	0	0	1.47e-05	0.0009	0	0.332	0.13262	T	0.408	0.14633	T	0.009	0.15093	B	0.02	0.19048	B	0.101554	0.19834	N	0.420447	0.995612	0.23246	N	0.785	0.19527	N	-0.0	0.62608	T	-1.9	0.44284	N	0.115	0.10340	-1.0389	0.17648	T	0.073	0.29451	T	10	0.011335194	0.00248	T	0.011563	0.29307	T	0.071	0.20720	.	.	0.110078149338	0.10416	0.25499050583571	0.25413	0.146275737254	0.16512	0.629050374031	0.57010	T	0.006429	0.20628	T	-0.480925	0.00730	T	-0.459307	0.26674	T	0.00648546147249904	0.00072	T	0.512349	0.21111	T	0.06351436	0.13382	0.06979071	0.14747	0.06620643	0.14223	0.06510862	0.13146	-4.032	0.25290	T	.	.	0.077	0.06387	B	.;.;.;.	.;.;.;.	1.240744	0.16364	12.49	0.98684772027764067	0.44667	0.21599	0.21458	N	AEFDBI	0.156285	0.28161	N	-0.865515027119635	0.11671	0.5644574	-0.778158462427507	0.15030	0.7884601	0.00606397462261267	0.11119	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	3.63	1.25	0.20475	0.297000	0.18856	0.956000	0.22957	0.743000	0.86499	0.020000	0.19661	0.046000	0.21717	0.709000	0.34421	0.8104:0.0:0.1896:0.0	7.620	0.27349	730	0.54327	Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2;Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2;.;Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	530.43	34	chr12	8847610	.	A	G	530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.407;DP=388;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.739;SOR=0.858	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1062	9	0	1	0
chr12	8851792	8851792	G	A	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon8:c.G770A:p.G257E,A2ML1:NM_144670:exon19:c.G2243A:p.G748E	.	.	.	.	.	.	.	.	.	.	.	241592	not_provided|A2ML1-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.259	.	8e-05	0.0061901	0.0016	0.0001	0	0.0205	0	0	0.0023	0.0007	0.0015782	244	154602	rs74582459	0.0007	0.0007	0.0007	0.0007	0.0231	0.0007	0.0007	0.0219	0.0214	0	0	0	0.0231	0	0	8.993e-06	0.0013	0.0008	0.0010	0.0010	0.0008	0.0012	0.0262	0.0009	0.0008	0.0226	0.0213	0	0	6.542e-05	0	0.0262	0	0	0	0.0009	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000297	0.46274	D	0.000000	0.980072	0.39628	D	2.655	0.77738	M	1.6	0.28604	T	-7.61	0.95366	D	0.582	0.60664	-0.7737	0.56653	T	0.078	0.31042	T	10	0.005795121	0.00129	T	.	.	.	0.259	0.57090	.	.	0.235038932564	0.23097	0.8917392604453227	0.89143	0.601202011732	0.55167	0.507749915123	0.39907	T	0.091947	0.43709	T	-0.352594	0.04565	T	-0.262333	0.48590	T	0.106481521449583	0.13056	T	0.788221	0.42759	T	0.75093985	0.80923	0.83583015	0.90565	0.81488824	0.84879	0.82743156	0.90018	-9.823	0.72845	D	.	.	0.356	0.57548	A	.;.;.	.;.;.	3.566028	0.50200	22.9	0.99696557709229416	0.80316	0.98089	0.79505	D	AEFBI	0.753284	0.69352	D	0.467141043831537	0.65182	4.79049	0.299784091797509	0.55526	3.715657	0.753321664306849	0.23395	0.744818	0.98587	0	0.563428	0.19063	0	0.732433	0.93434	0	0.564101	0.26826	0	.	.	2.75	2.75	0.31439	4.887000	0.62848	4.413000	0.43288	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	13.179	0.59063	724	0.55085	Alpha-2-macroglobulin|Alpha-2-macroglobulin;Alpha-2-macroglobulin|Alpha-2-macroglobulin;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2793.43	33	chr12	8851792	.	G	A	2793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=532;ExcessHet=0;FS=1.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.113;SOR=0.799	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1212	9	0	1	0
chr12	8933192	8933192	C	G	exonic	PHC1	.	nonsynonymous SNV	PHC1:NM_004426:exon8:c.C1735G:p.P579A	.	449	1051	22	0	0	22	0.0103578	.	.	.	2810169	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	.	.	0.00359425	0.0134	0	0.0046	0	0	0.0178	0	0.0299	0.0025226	390	154602	rs201210657	0.0077	0.0073	0.0078	0.0075	0.0084	0.0075	0.0075	0.0082	0.0082	0.0013	0.0034	0.0011	0	0.0108	0.0030	0.0084	0.0066	0.0056	0.0063	0.0065	0.0061	0.0066	0.0096	0.0060	0.0059	0.0090	0.0087	0.0011	0.0079	0.0070	0.0009	0	0.0114	0.0034	0.0096	0.0031	0.0030	0.018	0.50676	D	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.028378	0.25612	N	0.372588	0.96657	0.81001	D	0.805	0.20218	L	1.56	0.29602	T	-0.92	0.25332	N	0.194	0.21710	-1.1035	0.03693	T	0.031	0.13242	T	10	0.0052458644	0.00114	T	.	.	.	0.058	0.16647	.	.	0.21174354426	0.20776	0.28156049121059595	0.28069	0.727970359096	0.62593	0.437310278416	0.30210	T	0.156719	0.49901	T	-0.508406	0.00512	T	-0.495675	0.22798	T	0.00270492312657262	0.00028	T	0.712729	0.33234	T	0.06320114	0.13281	0.04482734	0.05896	0.06268708	0.13120	0.04482734	0.05896	-3.655	0.18656	T	.	.	0.051	0.00259	B	.;.;.	.;.;.	2.134720	0.27180	17.37	0.70983424013796725	0.09476	0.82891	0.42059	D	AEFDGBI	0.160804	0.28679	N	-0.226141754932948	0.32064	1.80436	-0.0334254884364705	0.38214	2.248346	0.00473759868014255	0.10692	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.27	4.32	0.50899	0.712000	0.25450	1.535000	0.27187	0.599000	0.40250	0.968000	0.34134	0.999000	0.35428	0.997000	0.79791	0.1454:0.7763:0.0:0.0783	10.488	0.43919	601	0.67921	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002665	0.005208	0.001453	0.006135	0.000000	0.000000	0.000000	0.004098	0.05	904.43	33	chr12	8933192	.	C	G	904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=344;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.78;MQRankSum=1.16;QD=20.1;ReadPosRankSum=0.491;SOR=0.929	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1364	9	0	1	0
chr12	9106267	9106267	T	C	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon9:c.A623G:p.H208R,A2M:NM_000014:exon10:c.A1073G:p.H358R,A2M:NM_001347424:exon10:c.A773G:p.H258R,A2M:NM_001347423:exon11:c.A1073G:p.H358R	Alpha-2-macroglobulin deficiency, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00467845077539	0.0004	0.000399361	0.0003	0.0002	0.0003	0	0	0.0003	0.0011	0.0006	0.0002652	41	154602	rs112506934	0.0002	0.0002	0.0002	0.0003	0.0083	0.0002	0.0002	0.0065	0.0058	0.0004	0.0002	7.655e-05	0	0	0.0083	0.0002	0.0005	0.0006	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	4.812e-05	0	0.0001	0.0003	0	0	0.0034	0.0004	0.0005	0.0010	0.037	0.43085	D	0.075	0.42794	T	0.015	0.17086	B	0.013	0.16460	B	0.717714	0.09961	N	0.863885	1	0.08975	N	2.125	0.59049	M	1.63	0.28002	T	-4.94	0.81835	D	0.129	0.12341	-1.0039	0.28785	T	0.110	0.39675	T	10	0.04482618	0.03484	T	0.004678	0.11628	T	0.200	0.48430	.	.	0.706465547616	0.70391	0.5305596468533889	0.52979	0.256975690804	0.28266	0.248988330364	0.03662	T	0.422647	0.77365	T	-0.537972	0.00345	T	-0.661105	0.08192	T	0.0339619744806277	0.02631	T	0.248675	0.03700	T	0.34815186	0.56923	0.33046913	0.58915	0.34815186	0.56923	0.33046913	0.58915	-9.806	0.72742	D	.	.	0.186	0.40164	B	.	.	1.779695	0.22627	15.70	0.91793725365755152	0.21099	0.37475	0.25770	N	AEFBCI	0.609124	0.59844	D	-0.349027474921849	0.27307	1.497209	-0.339786292163562	0.26826	1.484358	0.999599657450578	0.40745	0.516011	0.20929	0	0.624306	0.53593	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	6.06	6.06	0.98340	1.818000	0.38650	3.523000	0.38910	0.665000	0.62972	0.009000	0.18154	0.831000	0.27213	0.351000	0.25682	0.0:0.0:0.0:1.0	13.001	0.58080	543	0.72751	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.010870	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	956.43	39	chr12	9106267	.	T	C	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.827;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.418;SOR=0.669	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1195	9	0	1	0
chr12	9109966	9109966	A	G	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon5:c.T124C:p.F42L,A2M:NM_000014:exon6:c.T574C:p.F192L,A2M:NM_001347424:exon6:c.T274C:p.F92L,A2M:NM_001347423:exon7:c.T574C:p.F192L	Alpha-2-macroglobulin deficiency, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	0.0265216694037	.	.	1.656e-05	0	8.637e-05	0	0	0	0	6.059e-05	1.29e-05	2	154602	rs772773413	1.232e-05	1.231e-05	9.53e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	8.001e-05	6.239e-05	0	2.237e-05	0	0	0	0.0002	2.698e-06	1.656e-05	0.0001	6.57e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.029	0.45756	D	0.185	0.28958	T	0.983	0.60381	D	0.869	0.61749	P	0.000692	0.42383	N	0.209202	1	0.08975	N	2.25	0.63811	M	-0.98	0.75789	T	-5.28	0.84246	D	0.524	0.55366	-0.6600	0.62276	T	0.373	0.73175	T	10	0.88072133	0.87382	D	0.026522	0.49420	D	0.320	0.64215	0.865	0.96050	0.859673266445	0.85831	0.4899431374707562	0.48914	0.392344087065	0.40412	0.547096848488	0.45448	T	0.425505	0.77560	T	-0.202318	0.20470	T	-0.291724	0.45593	T	0.938398003578186	0.60898	D	0.810819	0.46223	T	0.5950592	0.72424	0.43381357	0.66922	0.5950592	0.72425	0.43381357	0.66922	-6.521	0.50449	T	.	.	0.534	0.66081	A	.	.	3.024479	0.40491	21.2	0.99655164546504127	0.77568	0.60603	0.31242	D	AEFBCI	0.607364	0.59735	D	0.0361261795571216	0.43506	2.642118	-0.0770043880374042	0.36342	2.113812	0.930359317198855	0.27005	0.549168	0.22868	0	0.573888	0.26702	0	0.573888	0.23631	0	0.616125	0.45549	0	.	.	5.41	3.01	0.33872	3.136000	0.50249	6.109000	0.53642	0.751000	0.87719	0.988000	0.36536	1.000000	0.68203	0.848000	0.40082	0.7377:0.1731:0.0892:0.0	5.577	0.16511	552	0.72024	Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1160.43	35	chr12	9109966	.	A	G	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.58;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.566;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1076	9	0	1	0
chr12	9181030	9181030	G	A	exonic	PZP	.	stopgain	PZP:NM_002864:exon15:c.C1792T:p.Q598X	.	2	1517	3	0	0	3	0.000987817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151757	0.0063	0.0002	8.685e-05	0.0830	0	0.0002	0.0055	0.0013	0.0058214	900	154602	rs117889746	0.0026	0.0026	0.0026	0.0026	0.0817	0.0025	0.0025	0.0793	0.0784	8.962e-05	0.0001	0.0010	0.0817	0	0.0003	0.0001	0.0041	0.0017	0.0031	0.0031	0.0025	0.0037	0.0795	0.0028	0.0028	0.0732	0.0707	0.0002	0	0.0005	0.0006	0.0795	0	0	0.0002	0.0038	0.0041	.	.	.	.	.	.	.	.	.	.	.	.	0.632433	0.10675	U	0.783752	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.832	0.82761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165975	0.70753	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.919197	0.95912	35	0.99679128048901045	0.79108	0.65210	0.32661	D	AEFDI	0.095816	0.19352	N	0.513546032845782	0.67891	5.142496	0.253595282214149	0.52853	3.457545	0.00208639768189635	0.09143	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.03	2.08	0.26079	-0.384000	0.07447	2.196000	0.31247	0.509000	0.23192	0.944000	0.32806	1.000000	0.68203	0.602000	0.31438	0.0:0.0:0.772:0.228	8.746	0.33747	680	0.59965	Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	1536.43	34	chr12	9181030	.	G	A	1536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=473;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.249;SOR=0.897	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	9	0	1	0
chr12	9971688	9971688	G	A	splicing	CLEC12A	NM_001207010:exon2:c.121+1G>A;NM_001300730:exon1:c.91+1G>A;NM_138337:exon1:c.91+1G>A;NM_201623:exon1:c.91+1G>A	.	.	.	458	1061	2	1	0	4	0.00188147	0.9999	0.908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.000399361	0.0012	0.0002	0.0011	0	0	0.0019	0.0011	6.106e-05	0.0011837	183	154602	rs148336258	0.0017	0.0017	0.0017	0.0017	0.0020	0.0016	0.0016	0.0019	0.0019	0.0002	0.0014	0.0023	2.539e-05	0.0002	0.0011	0.0020	0.0015	0.0003	0.0012	0.0012	0.0012	0.0013	0.0025	0.0011	0.0010	0.0019	0.0016	0.0003	0	0.0025	0.0014	0	9.425e-05	0	0.0018	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0426784	0.45550	T	0.159443	0.80772	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.016181	0.83334	28.0	0.98973970437491421	0.49600	0.88378	0.48278	D	AEFBI	.	.	.	0.934288793669637	0.93335	11.972	0.724760349881292	0.84260	8.242396	0.999999292611802	0.74766	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.960006	0.65302	4.12	4.12	0.47504	3.125000	0.50162	10.218000	0.83247	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.0:1.0:0.0	12.154	0.53371	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	982.43	35	chr12	9971688	.	G	A	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.657;DP=366;ExcessHet=0;FS=2.391;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.37;ReadPosRankSum=-0.76;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,952	9	0	1	0
chr12	10172034	10172034	G	A	exonic	OLR1	.	nonsynonymous SNV	OLR1:NM_001172632:exon1:c.C44T:p.P15L,OLR1:NM_001172633:exon1:c.C44T:p.P15L,OLR1:NM_002543:exon1:c.C44T:p.P15L	.	.	.	.	.	.	.	.	.	.	.	2258939	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00500827571714	.	.	5.778e-05	9.632e-05	0	0	0	9.008e-05	0	0	5.17e-05	8	154602	rs751951658	6.158e-05	6.156e-05	5.446e-05	6.877e-05	0.0005	5.096e-05	4.716e-05	0.0001	7.546e-05	2.988e-05	2.236e-05	0	0	0	0.0005	6.746e-05	0.0002	0	7.231e-05	7.225e-05	6.426e-05	8.075e-05	0.0001	3.973e-05	3.129e-05	5.842e-05	4.239e-05	2.414e-05	0	0.0001	0	0	0	0	0.0001	0	0	0.165	0.28646	T	0.262	0.29056	T	0.009	0.15093	B	0.005	0.11217	B	0.229712	0.15948	N	0.570173	0.85765	0.35331	D	1.79	0.46772	L	5.04	0.04746	T	-3.43	0.95366	D	0.06	0.15749	-0.9691	0.37386	T	0.011	0.04369	T	10	0.05858639	0.06910	T	0.005008	0.12660	T	0.035	0.08770	.	.	0.32580497728	0.32196	0.06424406536581252	0.06363	0.124429324764	0.14008	0.295825242996	0.09780	T	0.393024	0.75254	T	-0.47868	0.00753	T	-0.688698	0.06464	T	0.0592162497341633	0.07044	T	0.760924	0.38541	T	0.066117555	0.14195	0.101224735	0.24226	0.066117555	0.14195	0.101224735	0.24225	-3.801	0.21839	T	.	.	0.080	0.22208	B	.;.;.;.	.;.;.;.	1.871150	0.23769	16.14	0.99348493637508273	0.60493	0.19994	0.20874	N	AEFDGBHCI	0.081923	0.16582	N	-0.687722583500404	0.16371	0.8334583	-0.667632381305258	0.17772	0.946489	0.999899835283221	0.45129	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.09	1.06	0.19341	1.009000	0.29487	4.429000	0.43344	0.618000	0.50648	0.164000	0.23853	1.000000	0.68203	0.940000	0.48062	0.3363:0.0:0.6637:0.0	6.225	0.19913	878	0.29785	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1155.43	34	chr12	10172034	.	G	A	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.375;DP=413;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.972;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	9	0	1	0
chr12	10179599	10179599	G	T	exonic	TMEM52B	.	nonsynonymous SNV	TMEM52B:NM_001384896:exon1:c.G25T:p.A9S,TMEM52B:NM_001384897:exon1:c.G25T:p.A9S,TMEM52B:NM_153022:exon1:c.G9T:p.W3C,TMEM52B:NM_001079815:exon2:c.G25T:p.A9S,TMEM52B:NM_001384895:exon2:c.G25T:p.A9S,TMEM52B:NM_001384898:exon2:c.G9T:p.W3C,TMEM52B:NM_001384894:exon4:c.G25T:p.A9S	.	434	1083	5	0	0	5	0.00230309	.	.	.	3610573	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0020361715937	0.0002	0.000199681	0.0004	9.61e-05	8.637e-05	0	0.0008	0.0004	0.0011	0.0007	0.0003363	52	154602	rs140071448	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0006	0.0004	2.987e-05	8.944e-05	0	0	0.0009	0.0012	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	7.217e-05	0	0.0001	0	0	0.0009	0	0.0003	0	0.0002	0.127	0.27080	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.379462	0.04411	N	1.353820	1	0.08975	N	.	.	.	.	.	.	0.4	0.03463	N	0.071	0.04426	-1.0014	0.29516	T	0.063	0.26065	T	8	0.015441507	0.00324	T	0.002036	0.03695	T	0.056	0.15993	.	.	0.0401082797425	0.02173	0.2923392038243375	0.29146	.	.	.	.	.	0.001076	0.00595	T	-0.58351	0.00183	T	-0.711786	0.05204	T	0.0269930492029912	0.01543	T	0.238576	0.03390	T	0.04448323	0.07120	0.0794368	0.17883	0.04448323	0.07119	0.0794368	0.17883	-3.33	0.14126	T	.	.	0.077	0.06205	B	.;.	.;.	-1.388582	0.00368	0.007	0.57950219426494087	0.05883	0.02482	0.06953	N	AEFDGBCI	0.064454	0.12515	N	-1.43044973298783	0.02375	0.1047974	-1.531558342514	0.02105	0.0963412	0.99999954439006	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.3	-5.3	0.02527	-0.495000	0.06524	-0.569000	0.08436	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3682:0.0:0.3801:0.2518	4.774	0.12540	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	2234.12	34	chr12	10179599	.	G	T	2234.12	.	AC=2;AF=0.1;AN=20;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.58;SOR=0.718	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2257,243,0	9	1	0	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F,KLRC1:NM_007328:exon3:c.C211T:p.L71F,KLRC1:NM_001304448:exon4:c.C211T:p.L71F,KLRC1:NM_213657:exon4:c.C211T:p.L71F,KLRC1:NM_213658:exon4:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	157.47	44	chr12	10450556	.	G	A	157.47	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.73;DP=425;ExcessHet=0;FS=52.039;InbreedingCoeff=-0.2158;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.71;ReadPosRankSum=0.914;SOR=5.782	GT:AD:DP:GQ:PL	./.:27,0:27:0:0,0,348	4	0	1	5
chr12	10631294	10631294	G	A	exonic	STYK1	.	nonsynonymous SNV	STYK1:NM_018423:exon5:c.C202T:p.P68S	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0134565714201	0.0003	0.000798722	0.0008	0	0.0002	0	0	0.0005	0	0.0036	0.0006598	102	154602	rs140174760	0.0004	0.0004	0.0003	0.0004	0.0029	0.0004	0.0003	0.0026	0.0025	5.974e-05	0.0001	0.0038	0	0	0.0029	0.0001	0.0008	0.0029	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	0	0	6.533e-05	0.0046	0	0	0	0.0002	0.0005	0.0029	0.149	0.51853	T	0.302	0.92824	T	0.144	0.27697	B	0.014	0.16862	B	0.009183	0.30475	N	0.326057	1	0.08975	N	2.19	0.61577	M	-1.14	0.77843	T	-1.48	0.78302	N	0.168	0.17828	-0.6785	0.61442	T	0.322	0.69099	T	10	0.005180508	0.00113	T	0.013457	0.32880	T	0.069	0.20116	.	.	0.50970329007	0.50609	0.5637568186244317	0.56302	0.183786363742	0.20674	0.283225119114	0.07946	T	0.028895	0.20826	T	-0.412965	0.01900	T	-0.37121	0.36748	T	0.0203411637573905	0.00734	T	0.627137	0.24302	T	0.02052102	0.00614	0.03000872	0.01405	0.02052102	0.00614	0.03000872	0.01405	-3.392	0.14949	T	.	.	0.071	0.05060	B	.;.;.	.;.;.	1.020940	0.14004	10.57	0.68626865613198018	0.08716	0.01913	0.05852	N	AEFBI	0.039501	0.05745	N	-0.960258096141173	0.09464	0.4480145	-1.01897663576184	0.09368	0.4656734	0.991047916226018	0.32354	0.706548	0.73137	0	0.59043	0.45803	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.43	1.44	0.21647	0.247000	0.17953	1.318000	0.25583	-0.641000	0.04447	0.114000	0.23067	0.769000	0.26685	0.004000	0.06068	0.3702:0.0:0.6298:0.0	7.526	0.26822	906	0.23090	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1175.43	37	chr12	10631294	.	G	A	1175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.859;DP=419;ExcessHet=0;FS=3.189;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=1.66;SOR=0.39	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1620	9	0	1	0
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.1	833.14	91	chr12	10930916	.	C	T	833.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.99;DP=637;ExcessHet=0.2348;FS=15.315;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=40.12;MQRankSum=2.34;QD=4.68;ReadPosRankSum=0.44;SOR=1.999	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	8	0	2	0
chr12	11267818	11267818	G	T	exonic	PRB3	.	nonsynonymous SNV	PRB3:NM_006249:exon3:c.C431A:p.P144Q	.	723	790	7	0	2	9	0.00441084	.	.	.	2334745	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00114189385537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs11054208	0.0080	0.0073	0.0083	0.0077	0.0095	0.0077	0.0076	0.0084	0.0082	0.0007	0.0033	0.0100	0.0043	0.0193	0.0095	0.0087	0.0076	0.0009	0.0049	0.0018	0.0049	0.0049	0.0075	0.0036	0.0031	0.0051	0.0044	0.0006	0	0.0015	0.0098	0.0058	0.0084	0	0.0075	0	0	.	.	.	0.006	0.76473	D	.	.	.	.	.	.	0.185600	0.16985	U	0.256476	0.999919	0.19599	N	.	.	.	3.03	0.09356	T	-1.08	0.28084	N	0.217	0.24260	-1.0624	0.11166	T	0.042	0.17910	T	9	0.0096514225	0.00217	T	0.001142	0.01410	T	0.061	0.17616	.	.	0.0482279557977	0.04254	0.2715663832854014	0.27069	0.308967699888	0.33215	0.349918544292	0.17909	T	0.078379	0.35877	T	-0.451337	0.01109	T	-0.426949	0.30281	T	0.515472710132599	0.33199	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.03964	B	.;.	.;.	-0.501618	0.01862	0.151	0.15388392824923505	0.00375	0.01705	0.05419	N	AEFBI	0.045288	0.07390	N	-0.835986777763414	0.12398	0.6040622	-1.1021909902097	0.07658	0.3733841	1.25647785645013E-5	0.02871	0.074636	0.01641	0	0.063388	0.01293	0	0.078618	0.02440	0	0.058706	0.01089	0	.	.	1.08	0.143	0.14116	0.003000	0.12984	-3.644000	0.02635	-4.013000	0.00047	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7069:0.2931	6.372	0.20691	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000600	0.000000	0.001441	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	115.45	35	chr12	11267818	.	G	T	115.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=373;ExcessHet=0;FS=23.69;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.05;MQ=33.3;MQRankSum=-0.512;QD=3.72;ReadPosRankSum=-1.064;SOR=3.235	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	9	0	1	0
chr12	11267945	11268007	GTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG	-	exonic	PRB3	.	nonframeshift deletion	PRB3:NM_006249:exon3:c.242_304del:p.P81_G101del	.	439	1076	4	0	3	7	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0007	0.0007	0	0.0032	0.0027	0.0045	0.0004	0.0006147	16	26028	.	0.0014	0.0014	0.0013	0.0015	0.0021	0.0013	0.0013	0.0014	0.0013	0.0002	0.0016	0.0038	9.472e-05	0.0049	0.0021	0.0012	0.0023	0.0016	0.0010	0.0009	0.0012	0.0009	0.0011	0.0008	0.0007	0.0008	0.0007	0.0004	0.0028	0.0011	0.0006	0	0.0037	0.0116	0.0011	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1477.01	59	chr12	11267944	.	TGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG	T	1477.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.24;DP=744;ExcessHet=0;FS=4.611;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.95;MQRankSum=0.557;QD=6.97;ReadPosRankSum=-0.67;SOR=1.056	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	8	0	1	1
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPHKETSPE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.87e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1688.69	48	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	1688.69	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.074;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=55.01;MQRankSum=-3.06;QD=25.59;ReadPosRankSum=-7.039;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:93:.:.:0,93,1440:.	7	0	1	2
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21125.9	234	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	21125.9	.	AC=8;AF=0.667;AN=12;BaseQRankSum=2.63;DP=2008;ExcessHet=0;FS=3.474;InbreedingCoeff=0.598;MLEAC=10;MLEAF=0.833;MQ=47.36;MQRankSum=-1.624;QD=24.8;ReadPosRankSum=-1.592;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:201,0:201:0:.:.:0,0,1659:.	2	4	0	4
chr12	11393697	11393816	GTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	-	exonic	PRB1;PRB2	.	nonframeshift deletion	PRB1:NM_001367912:exon3:c.262_381del:p.88_127del,PRB2:NM_006248:exon3:c.262_381del:p.K88_N127del	.	430	1075	15	0	2	17	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	.	.	.	.	0.0002	0.0003	0.0002	0.0003	0.0013	0.0002	0.0002	0.0011	0.0010	0	0.0001	0.0004	5.436e-05	0.0003	0.0002	0.0001	0.0003	0.0013	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0.0016	0.0003	0	0	0	0.0072	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	618.39	343	chr12	11393696	.	GGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTT	G	618.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.91;DP=3144;ExcessHet=0;FS=9.004;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.65;MQRankSum=-2.82;QD=2.05;ReadPosRankSum=-6.4;SOR=0.547	GT:AD:DP:GQ:PL	0/0:361,0:361:99:0,120,1800	9	0	1	0
chr12	11393752	11393752	C	T	exonic	PRB1;PRB2	.	nonsynonymous SNV	PRB1:NM_001367912:exon3:c.G326A:p.R109Q,PRB2:NM_006248:exon3:c.G326A:p.R109Q	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	.	0.4222	0.2431	0.4094	0.3162	0.4681	0.4602	0.4311	0.4099	0.001191	31	26028	rs76832300	0.0113	0.0066	0.0104	0.0122	0.0191	0.0110	0.0109	0.0142	0.0125	0.0010	0.0068	0.0437	0.0017	0.0087	0.0191	0.0124	0.0117	0.0094	0.0087	0.0079	0.0086	0.0089	0.0136	0.0081	0.0079	0.0125	0.0120	0.0022	0.0107	0.0066	0.0235	0.0024	0.0078	0.0116	0.0136	0.0022	0.0117	.	.	.	0.637	0.07037	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	3.71	0.04046	T	-0.04	0.07590	N	0.039	0.01274	-0.9762	0.35860	T	0.003	0.00994	T	8	0.0032245219	0.00055	T	.	.	.	0.019	0.03383	.	.	.	.	0.039606789593714	0.03906	0.075177927071	0.08431	.	.	.	.	.	.	-0.741699	0.00020	T	-0.813109	0.01597	T	0.00107057250001736	0.00010	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05274	B	.	.	-0.084743	0.03731	0.770	0.4266095456056942	0.03160	0.00029	0.00276	N	AEFBI	0.015596	0.00305	N	-2.03367369516568	0.00179	0.00766595	-2.0562362833855	0.00232	0.01022055	5.2484378870243E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.23	-2.46	0.06089	-2.259000	0.01260	-0.374000	0.09587	-0.815000	0.03024	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2053:0.2954:0.0:0.4994	2.776	0.05019	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.437632	0.414141	0.463315	0.422131	0.400000	0.422414	0.426829	0.435606	0.125	713.41	400	chr12	11393752	.	C	T	713.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.698;DP=3680;ExcessHet=0.2348;FS=0.569;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=55.98;MQRankSum=-13.38;QD=1.14;ReadPosRankSum=3.01;SOR=0.625	GT:AD:DP:GQ:PL	./.:456,0:456:0:0,0,7139	3	0	1	6
chr12	11393752	11393752	C	0	exonic	PRB1;PRB2	.	.	.	.	453	1033	18	0	18	36	0.00863724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	713.41	400	chr12	11393752	.	C	*	713.41	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.698;DP=3680;ExcessHet=0.2348;FS=0.569;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=55.98;MQRankSum=-13.38;QD=1.14;ReadPosRankSum=3.01;SOR=0.625	GT:AD:DP:GQ:PL	./.:456,0:456:0:0,0,7139	3	0	1	6
chr12	12330907	12330907	T	C	exonic	MANSC1	.	nonsynonymous SNV	MANSC1:NM_018050:exon4:c.A416G:p.D139G,MANSC1:NM_001363613:exon5:c.A314G:p.D105G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0146792314068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0039	0.0004	0.0003	0.0004	0.0003	0.0003	0.0004	0.0004	0.0003	0	3.975e-05	5.116e-05	0	0.0002	0.0004	0.0003	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.15251	T	0.123	0.41573	T	0.002	0.09854	B	0.001	0.04355	B	0.663613	0.10405	N	0.800555	1	0.08975	N	1.245	0.31408	L	2.25	0.22881	T	-0.47	0.15178	N	0.031	0.01911	-0.9937	0.31643	T	0.030	0.12935	T	10	0.035876542	0.01857	T	0.014679	0.34954	T	0.016	0.02506	0.15	0.05339	0.0138822411134	0.00435	0.33148484278697865	0.33061	0.118754727936	0.13371	0.244366616011	0.03197	T	0.004238	0.10910	T	-0.346822	0.04929	T	-0.735962	0.04062	T	0.0301569309085608	0.02013	T	.	.	.	0.04236311	0.06411	0.026856218	0.00800	0.04236311	0.06410	0.026856218	0.00800	-3.929	0.22738	T	.	.	0.073	0.10545	B	.;.;.	.;.;.	0.071517	0.04796	1.408	0.89113004901921966	0.18522	0.01952	0.05932	N	AEFBI	0.048170	0.08193	N	-1.08359303296155	0.06945	0.3211853	-1.10572455078057	0.07590	0.3697953	0.779261376700607	0.23811	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.3	0.267	0.14876	-0.186000	0.09666	-1.883000	0.04557	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.220000	0.22462	0.0:0.2766:0.2406:0.4828	2.929	0.05440	612	0.66786	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	66.76	51	chr12	12330907	.	T	C	66.76	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.655;DP=835;ExcessHet=0.7463;FS=103.856;InbreedingCoeff=-0.1671;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.22;ReadPosRankSum=0.767;SOR=9.744	GT:AD:DP:GQ:PL	0/0:94,25:119:62:0,62,2089	7	0	3	0
chr12	13090602	13090602	C	T	exonic	GSG1	.	nonsynonymous SNV	GSG1:NM_001080554:exon2:c.G265A:p.V89M,GSG1:NM_001080555:exon2:c.G265A:p.V89M,GSG1:NM_001206842:exon2:c.G265A:p.V89M,GSG1:NM_001206843:exon2:c.G226A:p.V76M,GSG1:NM_001206845:exon2:c.G226A:p.V76M,GSG1:NM_001367358:exon2:c.G265A:p.V89M,GSG1:NM_001367359:exon2:c.G265A:p.V89M,GSG1:NM_001367360:exon2:c.G265A:p.V89M,GSG1:NM_001367361:exon2:c.G265A:p.V89M,GSG1:NM_001367362:exon2:c.G265A:p.V89M,GSG1:NM_001367363:exon2:c.G265A:p.V89M,GSG1:NM_001367364:exon2:c.G265A:p.V89M,GSG1:NM_001368007:exon2:c.G226A:p.V76M,GSG1:NM_031289:exon2:c.G226A:p.V76M,GSG1:NM_153823:exon2:c.G226A:p.V76M	.	436	1071	13	2	0	17	0.00787402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0206664809255	0.0012	0.00119808	0.0018	9.614e-05	0.0004	0	0	0.0022	0.0022	0.0040	0.0016494	255	154602	rs144983335	0.0013	0.0013	0.0011	0.0014	0.0066	0.0012	0.0012	0.0049	0.0044	0.0001	0.0008	0.0099	2.519e-05	9.36e-05	0.0066	0.0010	0.0016	0.0040	0.0011	0.0011	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0109	0.0002	0.0002	0.0068	0.0010	0.0033	0.0048	0.032	0.50132	D	0.006	0.72224	D	0.82	0.64070	P	0.446	0.57829	B	0.000569	0.43250	D	0.101500	0.966761	0.25879	N	2.31	0.66127	M	1.49	0.31470	T	-1.6	0.43334	N	0.233	0.45709	-0.8987	0.48125	T	0.153	0.48343	T	10	0.009343088	0.00211	T	0.020666	0.43310	T	0.102	0.29158	.	.	0.211220785272	0.20719	0.1817743636384318	0.18096	0.229546519496	0.25508	0.377721041441	0.21933	T	.	.	.	-0.403335	0.02201	T	-0.353612	0.38790	T	0.0944165238397986	0.11731	T	0.834417	0.50622	T	.	.	.	.	.	.	.	.	-5.467	0.47010	T	.	.	0.097	0.47116	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.849589	0.37622	20.5	0.99754537399279275	0.84537	0.88277	0.48132	D	AEFBI	0.523014	0.54679	D	0.301132813179315	0.56206	3.785084	0.312670558490132	0.56283	3.791481	0.999910397921076	0.45857	0.428477	0.06694	0	0.491513	0.07743	0	0.468601	0.07175	0	0.613276	0.41899	0	.	.	5.55	4.64	0.57399	1.164000	0.31420	3.312000	0.37472	0.599000	0.40250	0.935000	0.32453	1.000000	0.68203	0.997000	0.79791	0.1317:0.7987:0.0:0.0695	10.748	0.45391	878	0.29785	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.005435	0.002924	0.050000	0.000000	0.009146	0.003788	0.05	1725.43	33	chr12	13090602	.	C	T	1725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=473;ExcessHet=0;FS=0.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-2.018;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,975	9	0	1	0
chr12	15484161	15484161	A	G	exonic	PTPRO	.	nonsynonymous SNV	PTPRO:NM_002848:exon2:c.A263G:p.Y88C,PTPRO:NM_030667:exon2:c.A263G:p.Y88C	Nephrotic syndrome, type 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3713860	Nephrotic_syndrome,_type_6	MONDO:MONDO:0013619,MedGen:C3280100,OMIM:614196,Orphanet:656	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.441	0.0306437612143	7.7e-05	.	1.655e-05	0	0	0	0	1.503e-05	0.0011	0	1.29e-05	2	154602	rs375282118	3.764e-05	3.762e-05	5.04e-05	2.476e-05	4.859e-05	2.961e-05	2.657e-05	3.806e-05	3.409e-05	0	0	0	0	0	0	4.859e-05	1.657e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.862	0.67021	P	0.000261	0.46924	D	0.000000	0.999978	0.53665	D	1.04	0.26193	L	3.34	0.06368	T	-3.22	0.69477	D	0.872	0.91621	-1.1186	0.02421	T	0.037	0.15986	T	10	0.7371185	0.74698	D	0.030644	0.52913	D	0.441	0.74447	.	.	0.561981951463	0.55859	0.5896400975947704	0.58894	1.03121736478	0.75431	0.75323164463	0.74923	T	0.59477	0.86926	D	0.114035	0.65769	D	-0.0584867	0.66439	T	0.974495887756348	0.70532	D	0.958404	0.84340	D	0.25197357	0.48210	0.34109172	0.59853	0.25197357	0.48210	0.34109172	0.59853	-5.49	0.48333	T	.	.	0.450	0.72111	A	.;.;.	.;.;.	4.657820	0.74315	26.1	0.99849306072360267	0.92838	0.96626	0.70088	D	AEFI	0.779950	0.71199	D	0.596585886251822	0.72961	5.888879	0.631328262553741	0.77225	6.638895	0.988775233332959	0.31623	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	6.780000	0.74837	10.915000	0.84205	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.582	0.76195	817	0.41665	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	74.43	33	chr12	15484161	.	A	G	74.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.142;DP=507;ExcessHet=0;FS=121.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=2.1;SOR=7.327	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	9	0	1	0
chr12	18346677	18346677	C	T	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_001288772:exon11:c.C1466T:p.S489F,PIK3C2G:NM_001288774:exon11:c.C800T:p.S267F,PIK3C2G:NM_004570:exon11:c.C1466T:p.S489F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.269	0.0477704245826	.	0.000798722	0.0006	0	8.687e-05	0	0	4.513e-05	0.0011	0.0041	0.0004916	76	154602	rs573282420	0.0004	0.0004	0.0003	0.0005	0.0050	0.0004	0.0004	0.0046	0.0045	8.972e-05	2.238e-05	0	2.52e-05	0	0.0007	9.449e-05	0.0005	0.0050	0.0002	0.0002	0.0002	0.0003	0.0044	0.0002	0.0001	0.0029	0.0024	2.406e-05	0	0.0002	0	0	0	0	8.823e-05	0.0005	0.0044	0.001	0.78490	D	0.003	0.79402	D	0.984	0.60733	D	0.794	0.57880	P	0.839060	0.09048	N	0.914393	0.995026	0.23389	N	2.635	0.77114	M	1.37	0.61798	T	-3.33	0.66206	D	0.74	0.74007	-0.6540	0.62539	T	0.357	0.71975	T	10	0.0188331	0.00414	T	0.04777	0.63070	D	0.269	0.58381	0.529	0.63560	0.763199611837	0.76104	0.6579579241465532	0.65732	0.0719583658917	0.08067	0.423232913017	0.28281	T	0.149752	0.68802	T	-0.312144	0.07561	T	-0.22102	0.52639	T	0.122827725374073	0.14704	T	0.853715	0.59112	D	0.2671747	0.49789	0.32160664	0.58107	0.2671747	0.49788	0.32160664	0.58106	-5.805	0.44618	T	.	.	0.445	0.61978	A	.;.;.;.	.;.;.;.	3.248018	0.44367	21.9	0.99807912996199022	0.89174	0.81738	0.41082	D	AEFI	0.526914	0.54907	D	0.286629229915266	0.55468	3.711056	0.177200091899726	0.48600	3.073796	0.0537141419193694	0.14948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.98	3.98	0.45383	4.462000	0.59857	4.209000	0.42519	0.599000	0.40250	0.770000	0.29357	0.984000	0.30665	0.551000	0.30197	0.0:1.0:0.0:0.0	14.417	0.66727	932	0.16191	.;.;Phosphatidylinositol 3-kinase, C2 domain;Phosphatidylinositol 3-kinase, C2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.015152	0.05	1378.43	35	chr12	18346677	.	C	T	1378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.069;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=0.616;SOR=0.653	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr12	21860987	21860987	G	A	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_001377274:exon19:c.C1541T:p.T514I,ABCC9:NM_005691:exon21:c.C2408T:p.T803I,ABCC9:NM_020297:exon21:c.C2408T:p.T803I,ABCC9:NM_001377273:exon22:c.C2408T:p.T803I	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	399054	ABCC9-related_disorder|Dilated_cardiomyopathy_1O	.|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.981	0.439880251865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997660720	2.738e-06	2.736e-06	1.362e-06	4.128e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.74150	D	1.0	0.90584	D	0.996	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.565	0.93411	H	-3.43	0.94388	D	-5.46	0.86758	D	0.937	0.94314	1.091	0.99263	D	0.940	0.98043	D	10	0.9861443	0.98908	D	0.43988	0.94144	D	0.981	0.99874	0.937	0.99103	0.981910236375	0.98171	0.7582614432545384	0.75774	1.7646026135	0.91173	0.905787944794	0.97057	D	0.959739	0.99474	D	0.524533	0.95024	D	0.515679	0.94951	D	0.999407052993774	0.97270	D	0.982302	0.94028	D	0.83976614	0.86591	0.821498	0.89635	0.83976614	0.86593	0.821498	0.89635	-12.191	0.85769	D	0.6138863943820472	0.68169	0.993	0.94612	P	.;.;.	.;.;.	5.278795	0.88632	29.7	0.99887838914114013	0.96281	0.99749	0.99180	D	AEFI	0.955089	0.97268	D	1.02622121208823	0.96495	14.76519	0.940254926262382	0.97100	15.58977	0.999998985250296	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	9.883000	0.98528	11.754000	0.95474	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.555	0.91032	697	0.58201	.;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2430.12	34	chr12	21860987	.	G	A	2430.12	.	AC=2;AF=0.1;AN=20;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.26;SOR=0.74	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,994	9	1	0	0
chr12	21875696	21875696	C	T	exonic	ABCC9	.	nonsynonymous SNV	ABCC9:NM_001377274:exon15:c.G1186A:p.G396S,ABCC9:NM_005691:exon17:c.G2050A:p.G684S,ABCC9:NM_020297:exon17:c.G2050A:p.G684S,ABCC9:NM_001377273:exon18:c.G2050A:p.G684S	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	1	1510	11	0	0	11	0.00362917	.	.	.	54564	not_specified|Cardiovascular_phenotype|Cardiomyopathy|ABCC9-related_disorder|Arrhythmogenic_right_ventricular_cardiomyopathy|Dilated_cardiomyopathy_1O|Hypertrichotic_osteochondrodysplasia_Cantu_type|not_provided	MedGen:CN169374|MedGen:CN230736|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.233	0.12609051908	0.0008	0.000599042	0.0010	0.0003	8.717e-05	0	0	0.0008	0.0011	0.0035	0.0009508	147	154602	rs148174226	0.0008	0.0008	0.0007	0.0009	0.0035	0.0007	0.0007	0.0031	0.0030	5.979e-05	0.0002	0	2.522e-05	1.874e-05	0.0016	0.0007	0.0006	0.0035	0.0005	0.0005	0.0005	0.0004	0.0023	0.0004	0.0003	0.0013	0.0010	0.0002	0	0.0003	0	0	0	0	0.0007	0.0005	0.0023	0.238	0.17940	T	0.342	0.21745	T	0.007	0.19556	B	0.005	0.17743	B	0.000001	0.84330	D	0.097178	0.970613	0.38811	D	-0.2	0.04182	N	-2.65	0.90210	D	-1.46	0.35792	N	0.362	0.41162	-0.2607	0.76069	T	0.498	0.80985	T	10	0.011582732	0.00253	T	0.126091	0.80770	D	0.233	0.53499	.	.	0.770959730969	0.76886	0.4759855468035735	0.47517	0.678672366904	0.59898	0.631337404251	0.57335	T	0.29648	0.66910	T	-0.275262	0.11176	T	-0.170277	0.57417	T	0.0227941112266128	0.00999	T	0.884312	0.63771	D	0.24881262	0.47871	0.24836697	0.50386	0.24481207	0.47433	0.22542757	0.47486	-5.141	0.38377	T	0.4949840100153108	0.57118	0.094	0.14477	B	.;.;.	.;.;.	3.984620	0.58603	24.0	0.99399302547461599	0.62702	0.79662	0.39518	D	AEFBI	0.514915	0.54209	D	-0.249145023032462	0.31138	1.742994	-0.0368784568834149	0.38063	2.23727	0.00159494098697134	0.08681	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	4.66	0.57857	5.464000	0.66451	5.796000	0.49904	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.9256:0.0:0.0744	13.915	0.63400	675	0.60470	.;ABC transporter-like;ABC transporter-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.1	2508.12	34	chr12	21875696	.	C	T	2508.12	.	AC=2;AF=0.1;AN=20;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.83;SOR=0.917	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1260	9	1	0	0
chr12	27475714	27475715	AG	-	exonic	SMCO2	.	frameshift deletion	SMCO2:NM_001145010:exon5:c.495_496del:p.E166Kfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.434e-06	1.368e-06	0	2.908e-06	3.2e-05	2.4e-07	9e-08	.	.	3.2e-05	0	0	0	0	0	0	1.73e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	857.39	34	chr12	27475713	.	CAG	C	857.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.957;DP=394;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.86;SOR=0.925	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	9	0	1	0
chr12	27502087	27502087	T	G	exonic	SMCO2	.	nonsynonymous SNV	SMCO2:NM_001145010:exon9:c.T998G:p.L333W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0132616580708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.436e-06	1.369e-06	0	2.911e-06	1.858e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.858e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.002959	0.35672	N	0.000000	0.734214	0.33752	D	1.625	0.41611	L	.	.	.	-4.22	0.75854	D	0.746	0.77601	-0.4903	0.68998	T	0.219	0.58137	T	9	0.7023571	0.72523	D	0.013262	0.32524	T	0.278	0.59497	0.345	0.33950	0.31411915649	0.31020	0.5723125833130371	0.57159	.	.	0.570101737976	0.48691	T	0.119059	0.44032	T	0.293614	0.82450	D	0.18398	0.82225	D	0.995461404323578	0.87473	D	0.69643	0.30590	T	0.4654437	0.65010	0.598	0.76648	0.4654437	0.65011	0.598	0.76649	-8.814	0.66492	D	.	.	0.318	0.54375	B	.;.;.	.;.;.	3.751646	0.53775	23.4	0.96475596017760357	0.29953	0.79183	0.39189	D	AEFGBIJ	0.287296	0.39948	N	0.424335374776354	0.62764	4.497752	0.39492808322368	0.61251	4.322679	0.941196856585795	0.27465	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.28	4.28	0.50183	3.012000	0.49262	3.577000	0.39144	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.0:0.0:0.0:1.0	10.000	0.41096	803	0.44167	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	657.43	35	chr12	27502087	.	T	G	657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.069;DP=394;ExcessHet=0;FS=4.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.65;ReadPosRankSum=0.992;SOR=1.519	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I,FAR2:NM_001271783:exon7:c.C839T:p.T280I,FAR2:NM_018099:exon7:c.C839T:p.T280I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	607.22	33	chr12	29311098	.	C	T	607.22	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.337;DP=703;ExcessHet=0.2348;FS=112.827;InbreedingCoeff=-0.1149;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=1.09;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1133:.	8	0	2	0
chr12	29495332	29495332	A	G	exonic	OVCH1	.	nonsynonymous SNV	OVCH1:NM_001353179:exon4:c.T407C:p.M136T	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0133570225336	0.0011	0.000599042	0.0007	0	0.0007	0	0	0.0012	0	0.0002	0.0006727	104	154602	rs145585474	0.0006	0.0006	0.0006	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0005	0.0008	0.0081	0	3.749e-05	0.0099	0.0004	0.0014	0.0002	0.0008	0.0008	0.0007	0.0010	0.0016	0.0007	0.0007	0.0011	0.0010	9.618e-05	0.0230	0.0016	0.0089	0	0	0.0068	0.0006	0.0009	0	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	-2.3	0.87671	D	-4.1	0.74900	D	0.387	0.42834	-0.6214	0.63931	T	0.354	0.71728	T	9	0.007379234	0.00168	T	0.013357	0.32703	T	0.337	0.65913	.	.	0.771612649732	0.76951	0.19048937656957088	0.18966	0.198141154326	0.22192	0.420207709074	0.27865	T	.	.	.	-0.259407	0.12969	T	-0.201745	0.54480	T	0.0664368857320869	0.08141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42749	B	.	.	1.185806	0.15766	12.09	0.97573721156912263	0.34692	0.19815	0.20806	N	AEFI	0.033367	0.03942	N	-0.482265707306602	0.22662	1.211648	-0.585589920534754	0.19869	1.06795	0.00284753427874371	0.09746	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-1.27	0.08863	0.205000	0.17154	0.347000	0.17439	0.731000	0.85647	0.846000	0.30379	0.025000	0.21018	0.747000	0.35681	0.4511:0.3697:0.0:0.1792	4.884	0.13051	752	0.51611	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.005051	0.013587	0.035088	0.000000	0.008621	0.003049	0.000000	0.05	1424.43	66	chr12	29495332	.	A	G	1424.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-1.445;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1076:.	9	0	1	0
chr12	30726042	30726042	G	C	exonic	CAPRIN2	.	nonsynonymous SNV	CAPRIN2:NM_001385538:exon7:c.C761G:p.P254R,CAPRIN2:NM_001385543:exon7:c.C761G:p.P254R,CAPRIN2:NM_001319842:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385528:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385531:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385537:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385541:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385544:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385546:exon8:c.C761G:p.P254R,CAPRIN2:NM_001385547:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385548:exon8:c.C830G:p.P277R,CAPRIN2:NM_001385550:exon8:c.C830G:p.P277R,CAPRIN2:NM_001002259:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001206856:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319843:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385498:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385499:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385500:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385516:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385518:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001385529:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385532:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385533:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385534:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385539:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385540:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385542:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385545:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385549:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385551:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385552:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385553:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385554:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385557:exon9:c.C830G:p.P277R,CAPRIN2:NM_001385559:exon9:c.C830G:p.P277R,CAPRIN2:NM_023925:exon9:c.C1829G:p.P610R,CAPRIN2:NM_032156:exon9:c.C1829G:p.P610R,CAPRIN2:NM_001319844:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319845:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001319846:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385501:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385502:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385503:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385504:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385505:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385506:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385507:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385508:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385509:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385510:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385511:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385512:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385513:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385514:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385515:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385519:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385520:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385521:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385522:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385523:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385524:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385525:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385526:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385527:exon10:c.C1586G:p.P529R,CAPRIN2:NM_001385535:exon10:c.C1586G:p.P529R	.	436	1007	74	5	0	84	0.0400381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	0.0062	0.0111821	0.0092	0.0008	0.0064	0	0.0041	0.0086	0.0188	0.0251	0.0086092	1331	154602	rs73079976	0.0075	0.0076	0.0068	0.0082	0.0250	0.0074	0.0073	0.0228	0.0225	0.0009	0.0059	0.0069	2.561e-05	0.0043	0.0250	0.0068	0.0083	0.0237	0.0062	0.0062	0.0061	0.0064	0.0255	0.0059	0.0058	0.0218	0.0204	0.0012	0	0.0109	0.0101	0.0002	0.0027	0.0340	0.0075	0.0142	0.0255	0.007	0.72154	D	0.012	0.69154	D	1.0	0.90584	D	1.0	0.97372	D	0.000820	0.41658	D	0.244148	0.870816	0.39633	D	2.175	0.60977	M	1.72	0.80301	T	-4.19	0.76822	D	0.718	0.76481	0.305	0.87642	D	0.569	0.84399	D	10	0.0067775548	0.00154	T	.	.	.	0.205	0.49236	.	.	0.648614416266	0.64569	0.5195242696993202	0.51875	0.359186557532	0.37614	0.546116471291	0.45309	T	0.181502	0.53319	T	-0.0767919	0.40235	T	0.135171	0.79231	D	0.0256440277215045	0.01358	T	0.950705	0.86917	D	.	.	.	.	.	.	.	.	-13.034	0.89503	D	.	.	0.856	0.83681	P	.;.;.;.;.	.;.;.;.;.	4.065732	0.60367	24.2	0.99821863177600145	0.90502	0.62678	0.31854	D	ALL	0.618364	0.60420	D	0.593248100385037	0.72752	5.855505	0.574672674676995	0.73129	5.920273	1.0	0.98316	0.730579	0.87903	0	0.633656	0.55848	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.62	4.72	0.59248	3.892000	0.55947	7.436000	0.58833	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.864:0.136	15.950	0.79616	917	0.20147	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	466.43	36	chr12	30726042	.	G	C	466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.038;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=1.27;SOR=0.598	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1002	9	0	1	0
chr12	31087937	31087937	G	C	splicing	DDX11	NM_152438:exon6:c.639-1G>C;NM_030653:exon6:c.639-1G>C;NM_001257144:exon6:c.639-1G>C;NM_001257145:exon6:c.561-1G>C;NM_004399:exon6:c.639-1G>C	.	.	Warsaw breakage syndrome, Autosomal recessive	2	1519	1	0	0	1	0.000329056	0.9998	0.788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.774e-05	0.0001	0	0	0	1.635e-05	0	7.121e-05	3.84e-05	1	26028	rs757533407	3.638e-05	3.694e-05	3.412e-05	3.865e-05	0.0001	2.837e-05	2.573e-05	3.36e-05	2.391e-05	2.995e-05	0	0	0.0001	0	0	3.603e-05	3.318e-05	7.049e-05	5.259e-05	5.253e-05	3.855e-05	6.729e-05	0.0002	2.558e-05	1.831e-05	3.251e-05	1.916e-05	9.657e-05	0	0	0	0.0002	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.825704	0.28825	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461053	0.92972	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	6.256819	0.94891	34	0.94510436291454913	0.24992	0.89439	0.49904	D	AEFBI	.	.	.	0.528312152357673	0.68770	5.263276	0.187832813805461	0.49178	3.124295	3.55579399123242E-4	0.06668	0.256867	0.04430	0	0.271743	0.05004	0	0.17184	0.04098	0	0.117559	0.03655	0	0.093092	0.20959	2.79	1.89	0.24700	4.013000	0.56850	9.021000	0.78571	0.558000	0.28311	0.980000	0.35271	1.000000	0.68203	0.161000	0.20682	0.1558:0.0:0.8442:0.0	5.591	0.16581	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1026.43	68	chr12	31087937	.	G	C	1026.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=656;ExcessHet=0;FS=5.612;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.32;MQRankSum=-1.035;QD=12.37;ReadPosRankSum=1.35;SOR=0.754	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	9	0	1	0
chr12	31091731	31091731	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon10:c.C1102T:p.P368S,DDX11:NM_001257145:exon10:c.C1024T:p.P342S,DDX11:NM_004399:exon10:c.C1102T:p.P368S,DDX11:NM_030653:exon10:c.C1102T:p.P368S,DDX11:NM_152438:exon10:c.C1102T:p.P368S	Warsaw breakage syndrome, Autosomal recessive	1	1276	245	0	0	245	0.0875939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	.	.	0.0223642	0.0002	0.0003	0.0002	0.0005	0.0003	0.0002	0	0	0.0008409	130	154602	rs201612562	0.0006	0.0035	0.0005	0.0007	0.0033	0.0005	0.0005	0.0028	0.0027	0.0002	0.0033	0.0005	0.0016	0.0013	0.0006	0.0004	0.0005	0.0007	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.013	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.86255	D	0.000009	0.62929	D	0.114571	1	0.81001	D	.	.	.	1.14	0.38397	T	-7.74	0.95765	D	0.935	0.94668	-0.3380	0.73902	T	0.280	0.65170	T	10	0.0195221	0.00437	T	.	.	.	0.437	0.74164	.	.	0.584736501517	0.58146	0.856246594939591	0.85587	.	.	0.844346821308	0.88757	D	0.56607	0.85555	D	0.117933	0.66163	D	-0.0683742	0.65742	T	0.971576750278473	0.69369	D	0.946205	0.79675	D	0.8229996	0.85423	0.65729964	0.79931	0.8229996	0.85424	0.65729964	0.79931	-11.524	0.82967	D	.	.	0.597	0.70296	P	.;.;.;.	.;.;.;.	5.562741	0.92150	32	0.99906950704780995	0.97726	0.96748	0.70729	D	AEFBI	0.667814	0.63581	D	0.720063401293283	0.80945	7.408779	0.572471631206645	0.72975	5.895083	0.92097638106142	0.26654	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.05	3.05	0.34272	7.167000	0.77125	3.884000	0.40256	0.497000	0.22564	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	11.616	0.50348	976	0.04745	.;.;DEAD2|Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase-like, DEXD box c2 type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	220.13	131	chr12	31091731	.	C	T	220.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.891;DP=893;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1096;MLEAC=2;MLEAF=0.1;MQ=47.69;MQRankSum=-6.345;QD=0.69;ReadPosRankSum=-2.244;SOR=0.647	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	8	0	2	0
chr12	31103648	31103648	G	C	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_004399:exon25:c.G2458C:p.V820L,DDX11:NM_001257144:exon26:c.G2603C:p.C868S,DDX11:NM_001257145:exon26:c.G2530C:p.V844L,DDX11:NM_030653:exon26:c.G2608C:p.V870L,DDX11:NM_152438:exon26:c.G2603C:p.C868S	Warsaw breakage syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.02636387208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.098	0.39040	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	0.999996	0.28777	N	.	.	.	-0.73	0.73100	T	1.38	0.00857	N	0.138	0.13626	-0.4093	0.71733	T	0.586	0.85131	D	9	0.100384384	0.18277	T	0.026364	0.49282	D	0.132	0.35948	0.465	0.53566	0.753307581479	0.75107	0.31133377068302653	0.31046	.	.	0.537653803825	0.44114	T	0.058439	0.30843	T	-0.088462	0.38329	T	-0.364846	0.37489	T	0.0656475663705456	0.08027	T	0.263874	0.04274	T	0.6402606	0.74844	0.35115352	0.60714	0.6402606	0.74846	0.35115352	0.60713	-2.805	0.08230	T	.	.	0.088	0.11606	B	.	.	0.748213	0.11177	7.816	0.93238544008024293	0.22923	0.19150	0.20547	N	AEFDBHCI	0.362619	0.45181	N	-1.06452926507695	0.07306	0.3389654	-1.14122500139138	0.06927	0.3350968	0.992377425300562	0.32817	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.563494	0.21769	0	.	.	3.14	-1.26	0.08892	0.379000	0.20315	-3.820000	0.02515	0.467000	0.21759	0.013000	0.18845	0.000000	0.08366	0.253000	0.23340	0.7447:0.0:0.2553:0.0	7.277	0.25466	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1514.43	79	chr12	31103648	.	G	C	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.345;DP=722;ExcessHet=0;FS=1.515;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.33;MQRankSum=-0.683;QD=13.28;ReadPosRankSum=-0.516;SOR=0.9	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	9	0	1	0
chr12	31500446	31500446	G	A	exonic	DENND5B	.	nonsynonymous SNV	DENND5B:NM_001308339:exon2:c.C113T:p.S38L	.	567	922	33	0	0	33	0.0175812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	.	0.00419329	0.0194	0	0.0341	0	.	0.0167	0.0405	0.0215	0.0026778	414	154602	rs141702066	0.0106	0.0052	0.0096	0.0115	0.0190	0.0103	0.0102	0.0147	0.0144	0.0020	0.0038	0.0089	0.0001	0.0015	0.0190	0.0118	0.0106	0.0156	0.0080	0.0080	0.0086	0.0074	0.0131	0.0076	0.0075	0.0124	0.0121	0.0021	0.0186	0.0065	0.0095	0.0002	0.0008	0.0136	0.0131	0.0052	0.0131	0.126	0.27194	T	0.123	0.35582	T	0.893	0.49136	P	0.519	0.48163	P	0.142966	0.18226	U	0.309743	1	0.08975	N	.	.	.	4.55	0.01948	T	-1.17	0.29933	N	0.03	0.00717	-0.8889	0.49029	T	0.006	0.01870	T	8	0.0034925938	0.00062	T	.	.	.	0.053	0.14996	.	.	.	.	0.06382100541606522	0.06321	.	.	.	.	.	0.021384	0.16659	T	-0.76798	0.00013	T	-0.863603	0.00805	T	0.00830917297184111	0.00100	T	0.705629	0.31596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18206	B	.	.	0.007160	0.04332	1.101	0.90153726147446234	0.19431	0.00230	0.01288	N	AEFBI	0.034594	0.04311	N	-0.671784551672223	0.16829	0.8608266	-0.928904405062539	0.11413	0.5813171	0.999657046820802	0.41424	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.613276	0.41899	0	.	.	0.539	0.539	0.16348	-1.590000	0.02205	-0.492000	0.08854	-1.495000	0.01039	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	.	.	.	958	0.09170	.	ETFBKMT	Thyroid	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1216.12	34	chr12	31500446	.	G	A	1216.12	.	AC=2;AF=0.1;AN=20;DP=324;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.64;SOR=1.23	GT:AD:DP:GQ:PL	0/0:31,0:31:81:0,81,1215	9	1	0	0
chr12	31985805	31985805	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A4850G:p.H1617R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00376534877652	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372164733	1.413e-06	1.368e-06	0	2.845e-06	1.823e-06	2.4e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.823e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.02613	T	0.777	0.04372	T	0.0	0.02946	B	0.0	0.01387	B	0.002840	0.00920	N	2.919290	1	0.08975	N	-0.69	0.01958	N	2.93	0.09822	T	0.02	0.06739	N	0.054	0.02559	-0.9738	0.36387	T	0.012	0.04463	T	9	0.021632612	0.00522	T	0.003765	0.08744	T	0.027	0.05988	0.111	0.02112	0.0401082797425	0.02173	0.022416696464890074	0.02193	0.00861022644597	0.00783	0.26117643714	0.05032	T	0.003152	0.02556	T	-0.412527	0.01913	T	-0.830343	0.01256	T	0.0274385702889383	0.01608	T	0.369163	0.08660	T	0.03800989	0.04983	0.04055452	0.04409	0.03800989	0.04983	0.04055452	0.04409	-2.846	0.08615	T	.	.	0.074	0.05103	B	.	.	-0.246211	0.02863	0.405	0.15617991001939027	0.00389	0.02982	0.07833	N	AEFDBCI	0.021723	0.01000	N	-1.52728829899333	0.01672	0.07315853	-1.44311625370033	0.02833	0.1310537	0.938297803784132	0.27336	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	5.44	0.293	0.14992	-0.105000	0.10876	-2.567000	0.03600	-0.815000	0.03024	0.000000	0.06391	0.000000	0.08366	0.561000	0.30436	0.1136:0.3019:0.5145:0.0701	7.868	0.28712	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1034.43	48	chr12	31985805	.	A	G	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.247;DP=523;ExcessHet=0;FS=3.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.447;SOR=1.105	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,117,1755	9	0	1	0
chr12	32755622	32755622	C	G	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G253C:p.D85H	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.120665591044	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1167016632	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.973	0.72923	D	0.000003	0.62929	D	0.101229	1	0.81001	D	3.69	0.94526	H	0.74	0.50459	T	-4.99	0.82221	D	0.801	0.79696	-0.4221	0.71323	T	0.301	0.67186	T	10	0.8488797	0.84060	D	0.120666	0.80126	D	0.313	0.63482	0.632	0.76810	0.531727546574	0.52820	0.6799314687224141	0.67932	1.36873852786	0.84485	0.753081560135	0.74901	T	0.523042	0.83356	D	0.0370084	0.56652	T	-0.0877624	0.64330	T	0.984026432037354	0.75478	D	0.968203	0.88468	D	0.8620016	0.88238	0.79993373	0.88266	0.8620016	0.88240	0.79993373	0.88266	-9.623	0.71622	D	0.6614480898340025	0.73500	0.436	0.61500	A	.	.	5.070472	0.84568	28.3	0.99331596388332644	0.59816	0.48630	0.28250	N	ALL	0.677355	0.64208	D	0.627615201166171	0.74926	6.216742	0.507018567338595	0.68460	5.223258	0.999999999999996	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.64	2.72	0.31179	5.354000	0.65806	4.621000	0.44076	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.145:0.7772:0.0:0.0778	9.128	0.35989	764	0.49969	Aminoacyl-tRNA synthetase, class I, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2710.43	37	chr12	32755622	.	C	G	2710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.437;DP=535;ExcessHet=0;FS=4.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=1.76;SOR=0.896	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr12	32850772	32850772	T	C	exonic	PKP2	.	nonsynonymous SNV	PKP2:NM_001005242:exon5:c.A1372G:p.I458V,PKP2:NM_004572:exon5:c.A1372G:p.I458V	Arrhythmogenic right ventricular dysplasia 9, Autosomal dominant	2	1502	18	0	0	18	0.00595632	.	.	YES	54188	Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_dysplasia_9|Cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided|PKP2-related_disorder	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0012180,MedGen:C1836906,OMIM:609040|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.238	0.131746136054	.	0.00159744	0.0013	0	8.654e-05	0	0	6.005e-05	0.0022	0.0091	0.0010737	166	154602	rs199571473	0.0006	0.0006	0.0003	0.0009	0.0095	0.0006	0.0006	0.0089	0.0087	8.977e-05	2.236e-05	0	2.519e-05	0	0.0031	2.609e-05	0.0006	0.0095	0.0004	0.0004	0.0003	0.0005	0.0095	0.0003	0.0003	0.0073	0.0066	2.407e-05	0	0	0	0	0	0.0034	0.0001	0	0.0095	0.329	0.13175	T	0.105	0.39190	T	0.783	0.54666	P	0.588	0.54017	P	0.004144	0.34057	N	0.315671	0.95626	0.37965	D	0.73	0.18813	N	-0.36	0.68754	T	-0.57	0.19297	N	0.359	0.40063	-0.8034	0.54944	T	0.193	0.54667	T	10	0.009797215	0.00220	T	0.131746	0.81402	D	0.238	0.54217	.	.	0.561255953167	0.55787	0.12082017086383469	0.12009	0.528918376042	0.50453	0.590106010437	0.51509	T	0.141046	0.47591	T	-0.366006	0.03801	T	-0.292545	0.45508	T	0.0578029969033374	0.06818	T	0.766723	0.39447	T	0.10640072	0.25160	0.06553663	0.13298	0.10064365	0.23766	0.092574775	0.21824	-3.903	0.22348	T	0.2217153081542665	0.29907	0.138	0.58617	B	.;.	.;.	3.147412	0.42591	21.6	0.99848325046109443	0.92750	0.86419	0.45695	D	AEFDBI	0.532488	0.55233	D	0.054228577332818	0.44337	2.709635	0.133071421694827	0.46251	2.87414	0.0284775564298479	0.13834	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	4.7	4.7	0.58776	3.398000	0.52325	4.908000	0.45924	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1612:0.8388	10.608	0.44594	666	0.61362	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005482	0.000000	0.000000	0.020548	0.000000	0.008621	0.000000	0.011811	0.05	1556.43	44	chr12	32850772	.	T	C	1556.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.026;DP=453;ExcessHet=0;FS=6.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.253;SOR=1.27	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1127	9	0	1	0
chr12	38320549	38320549	T	G	exonic	ALG10B	.	nonsynonymous SNV	ALG10B:NM_001013620:exon3:c.T758G:p.L253W	.	0	1474	48	0	0	48	0.0160214	.	.	.	2806854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.185	0.00770233636556	0.0040	0.00179712	0.0042	0.0007	0.0064	0	0.0017	0.0052	0.0077	0.0042	0.003868	598	154602	rs140475027	0.0040	0.0040	0.0038	0.0041	0.0362	0.0039	0.0038	0.0322	0.0307	0.0008	0.0059	0.0070	2.52e-05	0.0013	0.0362	0.0039	0.0051	0.0041	0.0035	0.0035	0.0034	0.0036	0.0068	0.0032	0.0031	0.0057	0.0053	0.0007	0	0.0068	0.0058	0	0.0014	0.0340	0.0048	0.0062	0.0031	0.003	0.68238	D	0.026	0.55759	D	0.71	0.42074	P	0.225	0.38015	B	0.064624	0.21939	N	0.451949	0.999998	0.08975	N	2.575	0.75298	M	1.42	0.33189	T	-2.09	0.47683	N	0.552	0.57775	-1.0403	0.17223	T	0.055	0.23110	T	10	0.011118591	0.00244	T	0.007702	0.20431	T	0.185	0.45933	.	.	0.39724302092	0.39341	0.6957569625041998	0.69516	0.346047988278	0.36510	0.411681234837	0.26689	T	0.010982	0.09859	T	-0.398708	0.02361	T	-0.341488	0.40176	T	0.0361847429335446	0.03013	T	0.777622	0.41060	T	0.48294085	0.66078	0.5278043	0.72718	0.48294085	0.66079	0.5278043	0.72719	-6.486	0.50178	T	.	.	0.171	0.37577	B	.	.	2.245438	0.28674	17.88	0.74873181228380092	0.10859	0.92126	0.55002	D	AEFGI	0.296366	0.40623	N	-0.170831569317233	0.34354	1.959765	-0.300225260857327	0.28091	1.563584	8.2712102038478E-5	0.04703	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	3.23	2.07	0.26004	3.378000	0.52164	4.034000	0.41364	0.552000	0.28158	0.974000	0.34632	1.000000	0.68203	0.735000	0.35267	0.0:0.1196:0.0:0.8803	6.788	0.22866	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023666	0.025253	0.023098	0.064327	0.050000	0.008621	0.012195	0.003788	0.05	1984.43	34	chr12	38320549	.	T	G	1984.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=526;ExcessHet=0;FS=3.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.55;MQRankSum=-2.878;QD=9.1;ReadPosRankSum=-0.438;SOR=0.655	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	9	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1393.03	83	chr12	39764776	.	G	C	1393.03	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:25:10:.:.:0,52,304:.	3	0	7	0
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1393.03	83	chr12	39764776	.	G	A	1393.03	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,6:25:10:.:.:0,10,247:.	9	0	1	0
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	897.15	66	chr12	39764778	.	G	A	897.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.361;DP=458;ExcessHet=2.8389;FS=279.776;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=0.768;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:71:.:.:0,71,552:.	5	0	5	0
chr12	40308618	40308618	A	G	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon29:c.A4111G:p.I1371V	.	0	1517	4	1	0	6	0.00197368	.	.	.	47782	Autosomal_dominant_Parkinson_disease_8|not_provided	MONDO:MONDO:0011764,MedGen:C1846862,OMIM:607060,Orphanet:411602|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	0.0335221870814	0.0006	0.00119808	0.0010	0.0007	0.0003	0.0005	0.0002	0.0005	0.0022	0.0044	0.0009314	144	154602	rs17466213	0.0008	0.0008	0.0008	0.0009	0.0041	0.0008	0.0008	0.0038	0.0036	0.0002	0.0005	0.0002	0.0001	3.745e-05	0.0016	0.0007	0.0009	0.0041	0.0007	0.0007	0.0007	0.0006	0.0044	0.0006	0.0005	0.0029	0.0025	0.0005	0	0.0002	0	0.0002	0	0.0102	0.0007	0.0009	0.0044	0.438	0.09319	T	0.155	0.31936	T	0.293	0.32367	B	0.155	0.34417	B	0.000000	0.84330	D	0.050107	0.999984	0.54805	D	0.425	0.12573	N	-1.34	0.79944	T	-0.31	0.12099	N	0.76	0.75834	-0.6205	0.63968	T	0.304	0.67529	T	10	0.017168522	0.00365	T	0.033522	0.55037	D	0.453	0.75279	.	.	.	.	0.5195773157240728	0.51880	0.432461727185	0.43422	0.54245108366	0.44791	T	0.135389	0.46717	T	-0.120951	0.32968	T	0.0526471	0.73759	D	0.0174098161126799	0.00479	T	0.841716	0.51747	T	0.3371646	0.56053	0.32380006	0.58309	0.29727426	0.52658	0.31154397	0.57160	-6.042	0.46629	T	0.2257884130344001	0.30509	0.139	0.30423	B	.	.	2.571027	0.33319	19.30	0.99016912086365916	0.50484	0.92902	0.56828	D	AEFI	0.716227	0.66813	D	-0.113500431814409	0.36805	2.132383	0.0773266853195519	0.43410	2.643377	0.648756897176261	0.22138	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	5.254000	0.65274	11.007000	0.84821	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	1.0:0.0:0.0:0.0	15.410	0.74631	788	0.46569	Roc domain|Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2217.43	34	chr12	40308618	.	A	G	2217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.502;DP=526;ExcessHet=0;FS=3.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.957;SOR=0.687	GT:AD:DP:GQ:PL	0/1:94,103:197:99:2229,0,2113	9	0	1	0
chr12	40436636	40436636	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806	0.0341914588969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1224.43	34	chr12	40436636	.	G	T	1224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.824;DP=440;ExcessHet=0;FS=3.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-0.418;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	9	0	1	0
chr12	40479239	40479239	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	556	964	2	0	0	2	0.00103627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0274807835507	.	0.000599042	0	0	.	.	.	0	.	.	0.0001537	4	26028	rs549466441	0.0001	8.278e-05	0.0001	0.0001	0.0025	0.0001	0.0001	0.0019	0.0017	0.0009	0	0	0	0	0	6.827e-05	0.0004	0.0025	0.0005	0.0005	0.0004	0.0006	0.0015	0.0004	0.0004	0.0009	0.0008	0.0011	0	0.0005	0	0	9.432e-05	0	0.0002	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5194.43	35	chr12	40479239	.	C	T	5194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.936;DP=3390;ExcessHet=0;FS=2.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.208;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:439,0:439:99:.:.:0,120,1800:.	9	0	1	0
chr12	40479577	40479577	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	564	949	9	0	0	9	0.00471945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0157545287314	.	.	0	0	.	.	.	.	.	.	0.000461	12	26028	rs566225503	0.0011	0.0006	0.0010	0.0011	0.0022	0.0010	0.0010	0.0016	0.0014	6.334e-05	0	0	0.0003	0.0036	0.0006	0.0011	0.0014	0.0022	0.0007	0.0007	0.0006	0.0008	0.0025	0.0006	0.0006	0.0014	0.0011	0.0003	0	0.0009	0	0.0002	0.0007	0	0.0009	0.0009	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	7444.43	394	chr12	40479577	.	G	A	7444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.21;DP=4178;ExcessHet=0;FS=3.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=-1.001;SOR=0.853	GT:AD:DP:GQ:PL	0/0:439,0:439:99:0,120,1800	9	0	1	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7725.97	1277	chr12	40482890	.	T	*	7725.97	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.523;DP=11121;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=58.41;MQRankSum=-21.94;QD=1.15;ReadPosRankSum=2.7;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:960,0:1117:99:.:.:1987,4890,42289:.	3	0	3	4
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	681.39	755	chr12	40483175	.	GAAC	G	681.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=9.07;DP=7184;ExcessHet=0;FS=2.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.69;MQRankSum=-14.1;QD=0.78;ReadPosRankSum=-9.02;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:747,0:747:99:.:.:0,120,1800:.	9	0	1	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	80.39	658	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	80.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.61;DP=7183;ExcessHet=0;FS=2.175;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=-14.29;QD=0.1;ReadPosRankSum=-8.989;SOR=1.076	GT:AD:DP:GQ:PL	0/0:747,0:747:99:0,120,1800	9	0	1	0
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	17494.1	658	chr12	40483220	.	T	A	17494.1	.	AC=2;AF=0.1;AN=20;DP=6949;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.95;QD=31.87;SOR=0.922	GT:AD:DP:GQ:PL	0/0:747,0:747:99:0,120,1800	9	1	0	0
chr12	40483517	40483517	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0316737595694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.905e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	2.626e-05	0.0003	1.695e-05	3.619e-05	0.0003	6.98e-06	2.94e-06	.	.	0	0	0.0001	0	0	0.0001	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	340.43	726	chr12	40483517	.	G	A	340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=7726;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.82;MQRankSum=-30.06;QD=0.31;ReadPosRankSum=-3.712;SOR=1.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1013,81:1094:99:1|0:40483491_G_A:352,0,42281:40483491	9	0	1	0
chr12	40483522	40483522	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172100976637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191481396	1.206e-06	3.566e-05	0	2.611e-06	.	0	0	.	.	0	0	0	0	0	0	0	3.679e-05	0	3.585e-05	0.0004	2.804e-05	4.401e-05	0.0002	1.348e-05	8.61e-06	.	.	0	0	7.239e-05	0	0.0002	0.0001	0	1.573e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	385.43	726	chr12	40483522	.	G	A	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=7726;ExcessHet=0;FS=3.847;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.8;MQRankSum=-30.09;QD=0.35;ReadPosRankSum=8.92;SOR=1.464	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1012,82:1094:99:1|0:40483491_G_A:397,0,42236:40483491	9	0	1	0
chr12	40483902	40483902	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	547	967	8	0	0	8	0.00411946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs796546299	0.0001	0.0001	0.0001	0.0001	0.0019	9.984e-05	9.226e-05	0.0009	0.0007	0.0003	0	0	0	0	0.0019	8.137e-05	0.0003	0.0013	0.0003	0.0008	0.0003	0.0003	0.0019	0.0002	0.0002	0.0009	0.0006	0.0002	0	0.0004	0	0.0002	0	0	0.0003	0.0006	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	19023.1	651	chr12	40483902	.	C	T	19023.1	.	AC=2;AF=0.1;AN=20;DP=6501;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.91;QD=31.71;SOR=0.762	GT:AD:DP:GQ:PL	0/0:691,0:691:99:0,120,1800	9	1	0	0
chr12	40484430	40484430	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs950167408	2.879e-05	1.779e-05	1.784e-05	4.155e-05	6.073e-05	1.947e-05	1.636e-05	2.009e-05	1.678e-05	0	0	0	0	0	0	3.017e-05	0	6.073e-05	2.628e-05	2.627e-05	2.569e-05	2.69e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	8539.43	953	chr12	40484430	.	T	C	8539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.991;DP=7468;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.59;MQRankSum=0.325;QD=12.23;ReadPosRankSum=1.51;SOR=0.728	GT:AD:DP:GQ:PL	0/0:691,0:691:99:0,120,1800	9	0	1	0
chr12	40485171	40485194	AACAACTGGACCATCAGCTGGGGT	-	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1283170866	2.413e-06	0.0008	2.242e-06	2.613e-06	0.0011	4e-07	1.5e-07	.	.	0	0.0011	0	0	0	0	1.319e-06	0	0	6.681e-06	0.0018	0	1.369e-05	6.837e-05	0	0	.	.	0	0	6.837e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	477.39	804	chr12	40485170	.	GAACAACTGGACCATCAGCTGGGGT	G	477.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=7.79;DP=8085;ExcessHet=0;FS=31.927;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.31;MQRankSum=-28.34;QD=0.57;ReadPosRankSum=-5.353;SOR=4.373	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:854,0:854:99:.:.:0,120,1800:.	9	0	1	0
chr12	40485199	40485204	AGGACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	546	975	1	0	0	1	0.000512558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs1268064007	8.458e-06	0.0018	1.123e-05	5.232e-06	0.0011	3.52e-06	2.26e-06	1.24e-06	8.3e-07	6.361e-05	0.0011	0	0	0	0	5.284e-06	3.692e-05	0	4.116e-05	0.0031	2.672e-05	5.642e-05	0.0002	1.778e-05	1.17e-05	5.866e-05	3.095e-05	2.49e-05	0	0.0002	0	0	9.992e-05	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	934.39	804	chr12	40485198	.	AAGGACT	A	934.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.73;DP=7741;ExcessHet=0;FS=31.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.99;MQRankSum=-26.86;QD=1.21;ReadPosRankSum=-5.203;SOR=3.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:854,0:854:99:.:.:0,120,1800:.	9	0	1	0
chr12	40485210	40485210	-	GTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2763.23	804	chr12	40485210	.	A	AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	2763.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=11.81;DP=7711;ExcessHet=0.2348;FS=33.106;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-26.03;QD=1.81;ReadPosRankSum=-5.344;SOR=3.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:854,0:854:99:.:.:0,120,1800:.	6	0	1	3
chr12	40485210	40485210	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237855094	3.377e-05	0.0021	3.268e-05	3.503e-05	0.0124	2.317e-05	1.958e-05	0.0065	0.0048	6.784e-05	0.0124	0	0.0003	0	0	1.181e-05	0.0002	0	0.0003	0.0043	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0.0001	0	5.051e-05	0.0006	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2763.23	804	chr12	40485210	.	A	G	2763.23	.	AC=1;AF=0.071;AN=14;BaseQRankSum=11.81;DP=7711;ExcessHet=0.2348;FS=33.106;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.071;MQ=57.45;MQRankSum=-26.03;QD=1.81;ReadPosRankSum=-5.344;SOR=3.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:854,0:854:99:.:.:0,120,1800:.	6	0	1	3
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4122.1	682	chr12	40486404	.	T	TATCA	4122.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7.21;DP=8566;ExcessHet=0.2348;FS=50.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.99;MQRankSum=-30.06;QD=1.65;ReadPosRankSum=-7.859;SOR=5.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1060,0:1060:99:.:.:0,120,1800:.	8	0	2	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4242.97	682	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	4242.97	.	AC=1;AF=0.125;AN=8;BaseQRankSum=7.71;DP=9215;ExcessHet=0.2348;FS=53.265;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=57.96;MQRankSum=-29.97;QD=1.69;ReadPosRankSum=-12.08;SOR=5.869	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1090,0:1090:0:.:.:0,0,24881:.	3	0	1	6
chr12	40486405	40486405	-	CTGGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4242.97	682	chr12	40486405	.	G	GCTGGGGTGACAGAGAGTACTGGACTA	4242.97	.	AC=1;AF=0.125;AN=8;BaseQRankSum=7.71;DP=9215;ExcessHet=0.2348;FS=53.265;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=57.96;MQRankSum=-29.97;QD=1.69;ReadPosRankSum=-12.08;SOR=5.869	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:1090,0:1090:0:.:.:0,0,24881:.	3	0	1	6
chr12	40486500	40486500	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1720.25	923	chr12	40486500	.	C	A	1720.25	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:628,0:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,21098,47468:40486484	9	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1720.25	923	chr12	40486500	.	C	*	1720.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	5	0	5	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1680.87	923	chr12	40486506	.	A	*	1680.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.05;DP=10709;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.69;MQRankSum=4.55;QD=0.3;ReadPosRankSum=-7.683;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	1	0	5	4
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1677.87	923	chr12	40486507	.	G	*	1677.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.013;DP=10710;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.7;MQRankSum=4.54;QD=0.3;ReadPosRankSum=-8.034;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	1	0	5	4
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1626.87	923	chr12	40486514	.	G	*	1626.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.88;DP=10703;ExcessHet=4.5998;FS=15.453;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=57.06;MQRankSum=4.22;QD=0.29;ReadPosRankSum=-9.992;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:628,501:1129:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:19208,0,24753:40486484	1	0	5	4
chr12	40487346	40487346	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	540	947	31	0	4	35	0.0161039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326292392	0	1.325e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0031	0.0003	0.0003	0.0007	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0004	0	0.0005	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	979.43	901	chr12	40487346	.	A	T	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=9009;ExcessHet=0;FS=26.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.13;MQRankSum=-21.93;QD=1.11;ReadPosRankSum=7.14;SOR=3.463	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487347	40487347	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	538	950	30	0	4	34	0.015544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206361857	0	1.395e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0025	0.0002	0.0002	0.0005	0.0001	0.0001	0.0001	8.09e-05	0.0001	0	0.0002	0.0003	0	0.0003	0	0.0002	0.0011	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	986.43	901	chr12	40487347	.	G	C	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=9011;ExcessHet=0;FS=26.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.1;MQRankSum=-21.75;QD=1.12;ReadPosRankSum=7.21;SOR=3.32	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487354	40487354	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	544	938	36	0	4	40	0.0188285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265246174	0	6.857e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0041	0.0004	0.0004	0.0009	0.0003	0.0003	0.0002	0.0002	0.0003	0	0.0005	0.0005	0	0.0007	0	0.0004	0.0027	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	924.82	901	chr12	40487354	.	G	A	924.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.49;DP=9035;ExcessHet=0;FS=29.505;InbreedingCoeff=-0.0745;MLEAC=1;MLEAF=0.05;MQ=56;MQRankSum=-22.33;QD=1.03;ReadPosRankSum=8.81;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487370	40487370	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	530	937	55	0	0	55	0.0285122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434790702	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0028	0.0002	0.0002	0.0003	0.0001	0.0001	9.092e-05	6.022e-05	0.0001	0	0.0003	0.0003	0	0.0002	0	0.0001	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1008.43	901	chr12	40487370	.	C	G	1008.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.292;DP=9003;ExcessHet=0;FS=29.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-23.5;QD=1.15;ReadPosRankSum=8.75;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487373	40487373	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	536	929	57	0	0	57	0.029765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1199349600	0	5.474e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.547e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	994.43	901	chr12	40487373	.	A	G	994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.836;DP=9011;ExcessHet=0;FS=29.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-23.8;QD=1.13;ReadPosRankSum=8.45;SOR=3.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487375	40487375	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	533	933	56	0	0	56	0.0291363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362941780	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0029	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	7.934e-05	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0002	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1015.43	901	chr12	40487375	.	G	C	1015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.643;DP=9006;ExcessHet=0;FS=29.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-24.22;QD=1.16;ReadPosRankSum=8.25;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487377	40487377	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	537	927	58	0	0	58	0.0303347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1471742152	0	3.832e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0031	0.0002	0.0002	0.0005	0.0002	0.0001	0.0002	0.0001	0.0001	0	0.0004	0.0003	0.0002	0.0002	0	0.0002	0.0020	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1019.43	901	chr12	40487377	.	C	G	1019.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=9009;ExcessHet=0;FS=30.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.47;MQRankSum=-23.99;QD=1.17;ReadPosRankSum=7.86;SOR=3.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487388	40487388	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	532	936	54	0	0	54	0.0280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs552463164	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0030	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0001	0	0.0003	0.0003	0.0002	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1047.43	901	chr12	40487388	.	C	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=9005;ExcessHet=0;FS=30.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.38;MQRankSum=-24.35;QD=1.22;ReadPosRankSum=5.54;SOR=3.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487403	40487403	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	531	933	58	0	0	58	0.0301455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1387815853	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0030	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0001	0	0.0005	0.0003	0	0.0002	0	0.0003	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1043.43	901	chr12	40487403	.	G	T	1043.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.848;DP=9038;ExcessHet=0;FS=29.934;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.99;MQRankSum=-25.15;QD=1.2;ReadPosRankSum=0.569;SOR=3.48	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1000,0:1000:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487418	40487418	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	527	933	62	0	0	62	0.0321577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796103026	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0031	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0002	0	0.0009	0.0003	0	0.0004	0	0.0006	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	925.73	901	chr12	40487418	.	G	C	925.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.77;DP=9765;ExcessHet=0;FS=30.619;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=54.48;MQRankSum=-26.48;QD=1.1;ReadPosRankSum=-4.091;SOR=3.423	GT:AD:DP:GQ:PL	./.:1093,0:1093:0:0,0,26198	7	0	1	2
chr12	40487421	40487421	-	CCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	exonic	MUC19	.	unknown	UNKNOWN	.	528	938	56	0	0	56	0.0289855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0030	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0007	0.0006	0	0.0003	0	0.0005	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	766.39	901	chr12	40487421	.	G	GCCCATCAGCTGAAGTGACAGGGCTACCTGGAGTGTCAGCTGGGGTGACAGGGAC	766.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.938;DP=9799;ExcessHet=0;FS=27.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.07;MQRankSum=-25.42;QD=0.91;ReadPosRankSum=-8.458;SOR=3.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1106,0:1106:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487422	40487422	-	CC	exonic	MUC19	.	unknown	UNKNOWN	.	529	936	57	0	0	57	0.029549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289899653	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0042	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	0.0001	0.0001	0	0.0003	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	729.39	901	chr12	40487422	.	A	ACC	729.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.477;DP=9735;ExcessHet=0;FS=9.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.85;MQRankSum=-27.61;QD=0.78;ReadPosRankSum=1.55;SOR=1.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1106,0:1106:99:.:.:0,120,1800:.	9	0	1	0
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:936,48:984:99:.:.:6181,0,38619:.	2	0	8	0
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	31329.3	901	chr12	40487424	.	T	TTGG	31329.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=1;MLEAF=0.05;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:936,0:984:99:.:.:6181,1945,40727:.	9	0	1	0
chr12	40487442	40487442	-	GCT	exonic	MUC19	.	unknown	UNKNOWN	.	529	895	98	0	0	98	0.0519068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210301375	1.2e-06	8.209e-06	2.23e-06	0	0.0009	0	0	.	.	0	0.0009	0	0	0	0	0	0	0	0.0006	0.0058	0.0005	0.0008	0.0009	0.0005	0.0005	0.0005	0.0005	0.0004	0	0.0009	0	0.0006	0.0011	0	0.0007	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1779.1	901	chr12	40487442	.	G	GGCT	1779.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.419;DP=9879;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.6;MQRankSum=-26.6;QD=0.96;ReadPosRankSum=1.37;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1130,0:1130:99:.:.:0,120,1800:.	8	0	2	0
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	30359.1	877	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	30359.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.166;DP=10267;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=6;MLEAF=0.3;MQ=56.51;MQRankSum=-21.55;QD=5.08;ReadPosRankSum=-1.513;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:950,33:983:99:.:.:5526,0,38576:.	4	0	6	0
chr12	40487563	40487563	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	538	977	7	0	0	7	0.00356961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs948397939	0.0001	9.51e-05	0.0001	0.0002	0.0055	0.0001	0.0001	0.0029	0.0022	0.0001	0	0	0	0	0.0055	0.0001	0.0003	0.0012	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	2.406e-05	0	0.0007	0	0	0	0	0.0003	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	7867.43	792	chr12	40487563	.	G	A	7867.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.99;DP=8003;ExcessHet=0;FS=1.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=4.22;QD=11.3;ReadPosRankSum=-1.506;SOR=0.613	GT:AD:DP:GQ:PL	0/0:926,0:926:99:0,120,1800	9	0	1	0
chr12	40488195	40488195	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	565	955	2	0	0	2	0.00104603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1322582666	6.813e-05	0.0011	7.455e-05	6.067e-05	0.0001	5.265e-05	4.759e-05	4.87e-05	4.337e-05	0.0001	0	0.0002	0	0	0	6.427e-05	0.0001	7.368e-05	6.982e-06	0.0005	0	1.433e-05	1.568e-05	0	0	.	.	0	0	0	0	0	0	0	1.568e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	98.43	840	chr12	40488195	.	C	T	98.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.674;DP=5226;ExcessHet=0;FS=6.021;InbreedingCoeff=-0.0516;MLEAC=1;MLEAF=0.05;MQ=34.09;MQRankSum=1.15;QD=24.61;ReadPosRankSum=-0.674;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:40488195_C_T:110,0,33:40488195	9	0	1	0
chr12	40488197	40488197	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.883e-05	0.0012	8.201e-05	7.513e-05	0.0001	6.206e-05	5.682e-05	5.617e-05	5.068e-05	0.0001	0	0.0007	0	0	0	7.304e-05	0.0001	7.377e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	98.43	840	chr12	40488197	.	A	G	98.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.967;DP=5226;ExcessHet=0;FS=6.021;InbreedingCoeff=-0.0516;MLEAC=1;MLEAF=0.05;MQ=34.97;MQRankSum=1.15;QD=24.61;ReadPosRankSum=-0.431;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:0|1:40488195_C_T:110,0,33:40488195	9	0	1	0
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	846.01	840	chr12	40488211	.	TGGGGTG	T	846.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.288;DP=5445;ExcessHet=0;FS=7.858;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.29;MQRankSum=-21.09;QD=1.49;ReadPosRankSum=-2.266;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:295,0:295:99:.:.:0,120,1800:.	8	0	1	1
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	679.01	840	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	679.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.683;DP=5359;ExcessHet=0;FS=8.395;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.33;MQRankSum=-21.4;QD=1.09;ReadPosRankSum=-2.61;SOR=1.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:235,0:235:99:.:.:0,120,1800:.	8	0	1	1
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	69569.5	840	chr12	40488224	.	A	*	69569.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.81;DP=5500;ExcessHet=0.0237;FS=0;InbreedingCoeff=0.3651;MLEAC=1;MLEAF=0.071;MQ=59.88;MQRankSum=-0.034;QD=24.35;ReadPosRankSum=0.835;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:175,0:175:0:.:.:0,0,0:.	6	0	1	3
chr12	40488858	40488858	C	A	exonic	MUC19	.	unknown	UNKNOWN	.	573	912	7	23	7	60	0.0282365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374519651	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0009	0.0096	0.0010	0.0008	0.0014	0.0008	0.0007	0.0009	0.0007	0.0005	0	0.0014	0.0007	0.0008	0.0028	0	0.0009	0.0006	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1121.53	957	chr12	40488858	.	C	A	1121.53	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.551;DP=5821;ExcessHet=0;FS=2.886;InbreedingCoeff=0.092;MLEAC=2;MLEAF=0.2;MQ=59.19;MQRankSum=-11.65;QD=1.16;ReadPosRankSum=-6.697;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:3,0:3:0:.:.:0,0,0:.	4	0	1	5
chr12	40488861	40488861	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	581	906	7	23	5	58	0.0284182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs1475609431	0	5.431e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0063	0.0006	0.0005	0.0008	0.0004	0.0004	0.0004	0.0003	0.0003	0	0.0008	0.0003	0.0005	0.0019	0	0.0005	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	698.53	957	chr12	40488861	.	G	C	698.53	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.047;DP=5812;ExcessHet=0;FS=2.058;InbreedingCoeff=0.092;MLEAC=2;MLEAF=0.2;MQ=59.14;MQRankSum=-11.59;QD=0.73;ReadPosRankSum=-8.008;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:3,0:3:0:.:.:0,0,0:.	4	0	1	5
chr12	40488992	40488993	AG	-	exonic	MUC19	.	unknown	UNKNOWN	.	566	952	1	3	0	7	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343256137	0.0002	0.0008	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0	0	0.0002	0	0.0042	0.0007	0.0002	0.0002	0.0003	7.465e-06	0.0006	1.451e-05	0	7.2e-05	0	0	.	.	0	0	7.2e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	144.39	768	chr12	40488991	.	TAG	T	144.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.366;DP=4627;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.17;MQRankSum=-1.465;QD=18.05;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,4:8:99:0|1:40488954_T_C:156,0,156:40488954	9	0	1	0
chr12	40488994	40488994	-	AA	exonic	MUC19	.	unknown	UNKNOWN	.	571	947	1	3	0	7	0.00368227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283506347	0.0002	0.0008	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	6.558e-05	0	0.0002	0	0	0.0007	0.0002	0.0002	0.0003	7.746e-06	0.0007	1.501e-05	0	7.523e-05	0	0	.	.	0	0	7.523e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	103.01	768	chr12	40488994	.	G	GAA	103.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.19;DP=4628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.47;MQRankSum=-1.465;QD=14.72;ReadPosRankSum=0.697;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,3:7:99:0|1:40488954_T_C:114,0,159:40488954	8	0	1	1
chr12	40489002	40489002	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	564	954	2	2	0	6	0.0031348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1236214112	8.775e-05	0.0002	8.782e-05	8.767e-05	9.298e-05	7.052e-05	6.424e-05	7.424e-05	6.746e-05	0	0	0	0	0	0	9.298e-05	4.134e-05	7.532e-05	5.173e-05	0.0011	6.699e-05	3.554e-05	0.0003	2.156e-05	1.519e-05	6.34e-06	2.37e-06	3.03e-05	0	8.193e-05	0	0.0003	0	0	3.823e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	61.05	768	chr12	40489002	.	A	G	61.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.83;DP=4627;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.86;MQRankSum=-1.282;QD=10.18;ReadPosRankSum=1.83;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:40488954_T_C:72,0,162:40488954	8	0	1	1
chr12	40489005	40489005	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	570	948	2	2	0	6	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262472034	8.093e-05	0.0002	8.022e-05	8.176e-05	8.554e-05	6.395e-05	5.862e-05	6.708e-05	6.133e-05	0	0	0	0	0	0	8.554e-05	4.128e-05	7.514e-05	8.49e-06	0.0005	1.65e-05	0	8.201e-05	0	0	.	.	0	0	8.201e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	61.05	768	chr12	40489005	.	G	T	61.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.967;DP=4627;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.86;MQRankSum=-1.282;QD=10.18;ReadPosRankSum=1.83;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,2:6:72:0|1:40488954_T_C:72,0,162:40488954	8	0	1	1
chr12	40489087	40489087	C	G	exonic	MUC19	.	unknown	UNKNOWN	.	611	871	12	28	0	68	0.0375691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1197637289	0	1.536e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0074	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0	0.0004	0.0004	0	0.0004	0	0.0003	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	275.37	768	chr12	40489087	.	C	G	275.37	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.282;DP=4284;ExcessHet=0;FS=7.782;InbreedingCoeff=0.5024;MLEAC=2;MLEAF=0.1;MQ=34.4;MQRankSum=-1.383;QD=34.42;ReadPosRankSum=-0.842;SOR=4.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,5:6:27:1|0:40489023_G_T:207,0,27:40489023	8	1	1	0
chr12	40489098	40489098	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	624	863	11	24	0	59	0.0330532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs186762951	0	9.509e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0021	0.0002	0.0002	0.0005	0.0001	0.0001	0.0002	0.0002	0.0002	0	0.0005	0	0	0.0003	0	7.71e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	187.15	768	chr12	40489098	.	T	C	187.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.15;DP=4283;ExcessHet=0.2348;FS=13.222;InbreedingCoeff=-0.0943;MLEAC=2;MLEAF=0.1;MQ=36;MQRankSum=0.967;QD=26.74;ReadPosRankSum=0.967;SOR=3.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,3:4:33:1|0:40489023_G_T:123,0,33:40489023	8	0	2	0
chr12	40489579	40489788	TGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	-	exonic	MUC19	.	unknown	UNKNOWN	.	559	962	1	0	0	1	0.000519481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.948e-06	4.802e-06	4.602e-06	5.349e-06	5.409e-06	1.16e-06	7.8e-07	1.27e-06	8.5e-07	0	0	0	0	0	0	5.409e-06	0	0	0	3.352e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1431.01	732	chr12	40489578	.	CTGGACTATCAACTGGGGTGACAGGGATAGCTGGACACTCAGCTGCGGTGACAGGGATAACTAGACCATCAGCTGGAGTGACAGGGACAACCACAGTATCAGCTGGAGTAACAGGGACAATTGGACTATCAGCTGAAGCAACAGGGATAACTCTACCATCAGCTGGGGTGACAGAGACAACTGGACTATCTGCTGGAGTGACAGAAACAAT	C	1431.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.627;DP=4888;ExcessHet=0;FS=3.655;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=44.8;MQRankSum=-6.986;QD=11.45;ReadPosRankSum=-8.731;SOR=1.021	GT:AD:DP:GQ:PL	0/1:37,88:125:99:1442,0,1105	8	0	1	1
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	46355.3	751	chr12	40489602	.	G	*	46355.3	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.7;DP=4754;ExcessHet=0.2065;FS=0.539;InbreedingCoeff=0.1223;MLEAC=1;MLEAF=0.056;MQ=59.88;MQRankSum=1.06;QD=22.18;ReadPosRankSum=1.63;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,88:125:99:.:.:1442,0,1105:.	8	0	1	1
chr12	40489723	40489723	G	0	exonic	MUC19	.	.	.	.	636	835	24	18	9	69	0.0346821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	17688.4	733	chr12	40489723	.	G	*	17688.4	.	AC=1;AF=0.056;AN=18;DP=4276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=25.78;SOR=0.666	GT:AD:DP:GQ:PL	0/1:37,88:125:99:1442,0,1105	8	0	1	1
chr12	40489783	40489783	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	98602.4	798	chr12	40489783	.	A	*	98602.4	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.183;DP=4862;ExcessHet=0.7957;FS=0;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.056;MQ=59.88;MQRankSum=-1.988;QD=23.61;ReadPosRankSum=1.2;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,88:125:99:.:.:1442,0,1105:.	8	0	1	1
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	327.05	748	chr12	40490286	.	C	T	327.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.097;DP=7602;ExcessHet=0;FS=9.626;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.13;MQRankSum=-10.53;QD=0.46;ReadPosRankSum=-1.339;SOR=1.997	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	8	0	1	1
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	324.05	748	chr12	40490287	.	A	G	324.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.744;DP=7603;ExcessHet=0;FS=9.626;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=52.11;MQRankSum=-10.52;QD=0.46;ReadPosRankSum=-1.353;SOR=2.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:860,0:860:99:.:.:0,120,1800:.	8	0	1	1
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	14745.1	612	chr12	40490978	.	G	A	14745.1	.	AC=2;AF=0.1;AN=20;DP=6005;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=58.92;QD=30.09;SOR=0.792	GT:AD:DP:GQ:PL	0/0:508,0:508:99:0,120,1800	9	1	0	0
chr12	40493981	40493998	AGCTGAAGGTGAAAGCAT	-	exonic	MUC19	.	unknown	UNKNOWN	.	571	947	4	0	0	4	0.00210748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs753539367	0.0013	0.0008	0.0013	0.0012	0.0041	0.0012	0.0012	0.0016	0.0012	0.0002	0.0041	0.0008	0	0	0.0037	0.0013	0.0010	0.0010	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0007	0.0011	0.0010	0.0004	0	0.0014	0.0009	0	9.416e-05	0	0.0013	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	939.39	35	chr12	40493980	.	GAGCTGAAGGTGAAAGCAT	G	939.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.872;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.85;ReadPosRankSum=1.99;SOR=0.892	GT:AD:DP:GQ:PL	0/1:19,24:43:99:951,0,725	9	0	1	0
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	649.82	33	chr12	40509053	.	T	A	649.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.69;DP=1506;ExcessHet=0.2348;FS=1.31;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.26;MQRankSum=-12.3;QD=1.71;ReadPosRankSum=3.27;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,20:196:99:0|1:40509053_T_A:310,0,7310:40509053	3	0	2	5
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	640.82	33	chr12	40509056	.	G	A	640.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.08;DP=1499;ExcessHet=0.2348;FS=1.3;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.25;MQRankSum=-12.3;QD=1.68;ReadPosRankSum=3.28;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,20:199:99:0|1:40509053_T_A:301,0,7436:40509053	3	0	2	5
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	528.9	33	chr12	40509061	.	G	C	528.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.35;DP=1520;ExcessHet=0.2348;FS=0.624;InbreedingCoeff=-0.2766;MLEAC=3;MLEAF=0.25;MQ=59.35;MQRankSum=-12.38;QD=1.36;ReadPosRankSum=3.41;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,19:202:99:0|1:40509053_T_A:247,0,7627:40509053	4	0	2	4
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	492.9	33	chr12	40509062	.	A	C	492.9	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.04;DP=1521;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.2766;MLEAC=3;MLEAF=0.25;MQ=59.4;MQRankSum=-12.25;QD=1.28;ReadPosRankSum=3.33;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,19:201:99:0|1:40509053_T_A:250,0,7585:40509053	4	0	2	4
chr12	40509076	40509076	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	553	907	60	2	0	64	0.0340788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796925819	3.366e-05	0.0002	6.615e-05	0	5.131e-05	0	0	.	.	0	0	0	0	0	0	5.131e-05	0	0	6.575e-06	0.0004	0	1.345e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	283.98	33	chr12	40509076	.	G	A	283.98	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.44;DP=1516;ExcessHet=0.2348;FS=0.667;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=59.5;MQRankSum=-12.22;QD=0.74;ReadPosRankSum=2.14;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,16:196:90:0|1:40509076_G_A:90,0,7484:40509076	4	0	2	4
chr12	40509081	40509081	T	C	exonic	MUC19	.	unknown	UNKNOWN	.	552	908	60	2	0	64	0.0340426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796068417	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	9.204e-05	0.0005	0.0001	8.068e-05	0.0003	5.531e-05	4.367e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	288.82	33	chr12	40509081	.	T	C	288.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.44;DP=1504;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=59.49;MQRankSum=-12.12;QD=0.76;ReadPosRankSum=1.76;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,16:198:84:0|1:40509076_G_A:84,0,7533:40509076	3	0	2	5
chr12	40549636	40549636	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1048307839	2.827e-05	1.749e-05	2.889e-05	2.779e-05	4.403e-05	1.429e-05	1.062e-05	2.028e-05	1.375e-05	0	0	0	0	0	0	4.403e-05	6.984e-05	1.674e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2279.12	35	chr12	40549636	.	G	A	2279.12	.	AC=2;AF=0.1;AN=20;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.39;SOR=0.892	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1315	9	1	0	0
chr12	40561027	40561027	G	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210033681	8.769e-05	6.977e-05	9.029e-05	8.499e-05	0.0001	7.335e-05	6.842e-05	9.174e-05	8.557e-05	0	0	0	0	0	0	0.0001	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	703.43	38	chr12	40561027	.	G	T	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.065;DP=349;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.828;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	9	0	1	0
chr12	40570509	40570509	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs986819918	3.656e-06	7.952e-06	0	6.767e-06	3.236e-05	6.1e-07	2.3e-07	.	.	0	3.236e-05	0	0	0	0	0	3.331e-05	0	2.631e-05	2.628e-05	2.571e-05	2.693e-05	4.83e-05	8.15e-06	5.14e-06	8.01e-06	2.99e-06	4.83e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1773.43	35	chr12	40570509	.	C	T	1773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.865;SOR=0.745	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	9	0	1	0
chr12	40944070	40944070	C	T	exonic	CNTN1	.	nonsynonymous SNV	CNTN1:NM_175038:exon12:c.C1550T:p.A517V,CNTN1:NM_001256063:exon14:c.C1583T:p.A528V,CNTN1:NM_001256064:exon14:c.C1583T:p.A528V,CNTN1:NM_001843:exon14:c.C1583T:p.A528V	.	.	.	.	.	.	.	.	.	.	.	1010426	Compton-North_congenital_myopathy|Inborn_genetic_diseases	MONDO:MONDO:0012929,MedGen:C2675527,OMIM:612540,Orphanet:210163|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.208	0.0259973946858	.	.	8.268e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs779551448	8.212e-06	8.209e-06	9.532e-06	6.878e-06	0.0002	4.38e-06	3.46e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	6.297e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.11550	T	0.478	0.25061	T	0.949	0.90584	P	0.821	0.86255	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.325	0.33218	L	2.53	0.14038	T	-0.89	0.24026	N	0.811	0.83066	-1.1097	0.03096	T	0.072	0.29291	T	10	0.7857443	0.78231	D	0.025997	0.48938	D	0.208	0.49714	0.569	0.69167	0.454055122543	0.45028	0.8454460965493286	0.84505	0.955170405442	0.72777	0.584843277931	0.50768	T	0.261581	0.63307	T	-0.0535707	0.43903	T	-0.217873	0.52942	T	0.940226197242737	0.61237	D	0.931907	0.86510	D	0.16107453	0.36092	0.16980386	0.39042	0.16107453	0.36091	0.16980386	0.39042	-4.496	0.50271	T	.	.	0.51	0.67450	A	.;.;.;.;.	.;.;.;.;.	4.250720	0.64526	24.7	0.99609206912088266	0.74694	0.98786	0.86836	D	AEFI	0.852039	0.76894	D	0.324070130722143	0.57386	3.905766	0.275154152814646	0.54091	3.575339	0.999990946839377	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.72	4.72	0.59248	7.182000	0.77229	7.653000	0.63809	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.829000	0.39076	0.0:1.0:0.0:0.0	18.248	0.89933	736	0.53558	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1067.43	33	chr12	40944070	.	C	T	1067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=449;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.178;SOR=0.803	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1104	9	0	1	0
chr12	42317414	42317414	T	C	exonic	ZCRB1	.	nonsynonymous SNV	ZCRB1:NM_033114:exon5:c.A259G:p.I87V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0134792026825	.	.	1.657e-05	0	0	0	0	3.015e-05	0	0	1.29e-05	2	154602	rs750402117	7.535e-06	7.525e-06	5.452e-06	9.638e-06	2.33e-05	4.04e-06	2.96e-06	3.87e-06	2.76e-06	0	0	0	0	0	0	8.098e-06	0	2.33e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.431	0.20615	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.042041	1	0.81001	D	-0.1	0.04694	N	-0.8	0.73845	T	0.39	0.03639	N	0.331	0.38746	-0.7912	0.55659	T	0.239	0.60714	T	10	0.16375917	0.30655	T	0.013479	0.32916	T	0.179	0.44899	.	.	0.377976839388	0.37411	0.10513332385702548	0.10443	0.250597250229	0.27630	0.641970515251	0.58845	T	0.00506	0.04495	T	-0.0618927	0.42612	T	-0.226051	0.52153	T	0.541683077812195	0.34166	D	0.79772	0.46991	T	0.1275286	0.29840	0.112725854	0.27200	0.1275286	0.29839	0.112725854	0.27199	-4.291	0.28051	T	.	.	0.057	0.00647	B	.;.;.	.;.;.	2.609977	0.33897	19.47	0.99403825614917296	0.62934	0.97102	0.72701	D	AEFBI	0.635514	0.61500	D	-0.116333544647286	0.36682	2.123561	0.106892156559484	0.44900	2.762931	0.999920444177322	0.46280	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.62	5.62	0.85714	4.626000	0.60968	6.141000	0.54053	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.823	0.78449	756	0.51065	RNA recognition motif domain;RNA recognition motif domain;RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	871.43	34	chr12	42317414	.	T	C	871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.621;DP=368;ExcessHet=0;FS=5.343;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=0.581;SOR=0.887	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1022	9	0	1	0
chr12	42393679	42393679	C	G	exonic	PPHLN1	.	nonsynonymous SNV	PPHLN1:NM_001364826:exon5:c.C398G:p.S133C,PPHLN1:NM_001143789:exon6:c.C536G:p.S179C,PPHLN1:NM_001364825:exon6:c.C536G:p.S179C,PPHLN1:NM_001364829:exon6:c.C536G:p.S179C,PPHLN1:NM_001364830:exon6:c.C536G:p.S179C,PPHLN1:NM_001143787:exon7:c.C593G:p.S198C,PPHLN1:NM_001143788:exon7:c.C701G:p.S234C,PPHLN1:NM_001364824:exon7:c.C593G:p.S198C,PPHLN1:NM_001364827:exon7:c.C701G:p.S234C,PPHLN1:NM_001364828:exon7:c.C701G:p.S234C,PPHLN1:NM_001364831:exon7:c.C557G:p.S186C,PPHLN1:NM_001364832:exon7:c.C557G:p.S186C,PPHLN1:NM_001364822:exon8:c.C722G:p.S241C,PPHLN1:NM_001364823:exon8:c.C614G:p.S205C,PPHLN1:NM_001364833:exon8:c.C758G:p.S253C,PPHLN1:NM_001364834:exon8:c.C722G:p.S241C,PPHLN1:NM_016488:exon8:c.C758G:p.S253C,PPHLN1:NM_201438:exon8:c.C614G:p.S205C,PPHLN1:NM_201439:exon8:c.C758G:p.S253C,PPHLN1:NM_201440:exon8:c.C614G:p.S205C,PPHLN1:NM_201515:exon9:c.C779G:p.S260C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.00385000562614	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1283118335	2.749e-06	3.42e-06	2.736e-06	2.763e-06	3.604e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.604e-06	0	0	6.575e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.034	0.78490	D	0.012	0.72224	D	0.992	0.90584	D	0.849	0.71741	P	0.046487	0.23434	N	0.393555	0.997349	0.25674	N	2.36	0.67893	M	.	.	.	-2.39	0.57920	N	0.275	0.37093	-0.7483	0.58024	T	0.253	0.62281	T	9	0.18307292	0.33618	T	0.00385	0.09024	T	0.129	0.35316	0.176	0.08257	0.785105186859	0.78311	0.15146685065503165	0.15068	0.772966515379	0.64872	0.454114794731	0.32507	T	0.085883	0.74842	T	0.0433968	0.57489	T	-0.17544	0.56944	T	0.962021470069885	0.66248	D	0.962204	0.85735	D	0.15832826	0.35627	0.1458287	0.34571	0.15832826	0.35626	0.1458287	0.34570	-5.826	0.45952	T	.	.	0.122	0.39237	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	5.889420	0.93958	33	0.99127158070364407	0.53142	0.84508	0.43590	D	AEFGBI	0.539939	0.55671	D	0.54333500513242	0.69678	5.391107	0.547463863519493	0.71221	5.621823	0.188643121208731	0.17971	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.06	5.17	0.70848	2.876000	0.48197	5.487000	0.48737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1489:0.8511:0.0:0.0	14.242	0.65513	578	0.69858	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1017.43	76	chr12	42393679	.	C	G	1017.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.699;DP=394;ExcessHet=0;FS=1.931;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-1.476;SOR=1.051	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	9	0	1	0
chr12	42460069	42460069	G	A	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon8:c.C2236T:p.P746S,PRICKLE1:NM_001144882:exon8:c.C2236T:p.P746S,PRICKLE1:NM_001144883:exon8:c.C2236T:p.P746S,PRICKLE1:NM_153026:exon8:c.C2236T:p.P746S	Epilepsy, progressive myoclonic 1B, Autosomal recessive	0	1501	21	0	0	21	0.00694674	.	.	.	135472	not_specified|not_provided|Epilepsy,_progressive_myoclonic,_1B	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.304	.	0.0016	0.0201677	0.0101	0.0004	0.0194	0.0864	0.0002	0.0021	0.0011	0.0070	0.0095018	1469	154602	rs3827522	0.0054	0.0054	0.0053	0.0055	0.0795	0.0053	0.0052	0.0772	0.0762	0.0004	0.0158	0.0021	0.0795	0.0003	0.0040	0.0025	0.0076	0.0071	0.0060	0.0060	0.0055	0.0065	0.0847	0.0057	0.0055	0.0781	0.0755	0.0007	0	0.0121	0.0017	0.0847	0.0007	0.0034	0.0027	0.0062	0.0108	0.018	0.50676	D	0.16	0.31427	T	0.037	0.20876	B	0.009	0.14300	B	0.000406	0.44736	D	0.225035	0.999826	0.20203	N	1.665	0.42610	L	-1.99	0.85320	D	-1.49	0.36385	N	0.104	0.14622	-0.8854	0.49324	T	0.026	0.11220	T	10	0.0017695427	0.00023	T	.	.	.	0.304	0.62510	.	.	.	.	0.3551184717963568	0.35425	0.394066426659	0.40570	0.341263651848	0.16627	T	0.145985	0.48338	T	-0.432641	0.01429	T	-0.31767	0.42829	T	0.0609070858450115	0.07310	T	0.746025	0.36642	T	0.08557991	0.19857	0.14977208	0.35349	0.07266875	0.16183	0.1339355	0.32104	-3.176	0.12190	T	0.19171987352439407	0.25166	0.077	0.06479	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.424381	0.47561	22.5	0.98131507539475249	0.38522	0.89993	0.50831	D	AEFBI	0.521986	0.54619	D	-0.177623512281458	0.34068	1.940114	-0.0573963437080761	0.37172	2.172883	0.999457632561927	0.39788	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	7.547000	0.81094	5.769000	0.49731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:0.0:1.0:0.0	19.946	0.97182	503	0.75780	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.010101	0.005435	0.000000	0.000000	0.000000	0.036585	0.007576	0.05	517.43	34	chr12	42460069	.	G	A	517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.986;SOR=0.54	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1292	9	0	1	0
chr12	42469464	42469464	C	T	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144882:exon4:c.G370A:p.A124T,PRICKLE1:NM_001144883:exon4:c.G370A:p.A124T,PRICKLE1:NM_153026:exon4:c.G370A:p.A124T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	1	1491	29	1	0	31	0.0102887	.	.	.	135473	not_specified|Self-limited_epilepsy_with_centrotemporal_spikes|not_provided|Epilepsy,_progressive_myoclonic,_1B	MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|MedGen:C3661900|MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0017	0.0273562	0.0135	0.0006	0.0195	0.0924	0.0002	0.0021	0.0044	0.0281	0.0125548	1941	154602	rs79087668	0.0067	0.0067	0.0061	0.0073	0.0834	0.0066	0.0066	0.0811	0.0801	0.0005	0.0158	0.0021	0.0834	0.0003	0.0045	0.0025	0.0097	0.0265	0.0071	0.0071	0.0060	0.0082	0.0910	0.0067	0.0066	0.0843	0.0816	0.0007	0	0.0122	0.0017	0.0910	0.0007	0.0034	0.0027	0.0062	0.0373	0.184	0.21634	T	0.256	0.23298	T	0.002	0.09854	B	0.006	0.12133	B	0.000124	0.49741	D	0.207611	0.999915	0.51042	D	0.845	0.21182	L	0.05	0.76561	T	-1.21	0.33197	N	0.078	0.15046	-0.8924	0.48722	T	0.019	0.08033	T	10	0.001621902	0.00019	T	.	.	.	0.099	0.28413	.	.	.	.	0.3095601302993247	0.30869	0.339430259153	0.35891	0.450280964375	0.31982	T	0.118743	0.43978	T	-0.468024	0.00875	T	-0.358207	0.38261	T	0.00760317014155403	0.00088	T	0.819018	0.50309	T	0.08712119	0.20275	0.12031081	0.29035	0.08903565	0.20790	0.12031081	0.29034	-5.203	0.38972	T	0.06110281018219036	0.01722	0.073	0.04723	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.598206	0.33719	19.42	0.99004866399912961	0.50231	0.81330	0.40756	D	AEFDGBHCI	0.186650	0.31395	N	-0.107796757099699	0.37053	2.150237	0.00894855236807661	0.40128	2.390033	0.999999983472388	0.74766	0.706548	0.73137	0	0.218748	0.04544	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.41	3.55	0.39770	1.948000	0.39929	2.647000	0.33790	0.599000	0.40250	0.952000	0.33172	0.992000	0.31684	0.984000	0.60418	0.0:0.8578:0.0:0.1422	12.584	0.55761	502	0.75873	Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;.	.	.	.	.	rs79087668	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012601	0.010101	0.005435	0.000000	0.000000	0.000000	0.036585	0.015152	0.05	679.43	33	chr12	42469464	.	C	T	679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.756;DP=389;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-1.473;SOR=0.811	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	9	0	1	0
chr12	43799462	43799462	G	A	exonic	TWF1	.	nonsynonymous SNV	TWF1:NM_001242397:exon5:c.C419T:p.S140L,TWF1:NM_002822:exon5:c.C419T:p.S140L	.	.	.	.	.	.	.	.	.	.	.	2686030	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.0654333102545	.	.	7.122e-05	0.0001	0	0	0	1.939e-05	0	0.0004	4.53e-05	7	154602	rs751907907	2.127e-05	2.121e-05	1.092e-05	3.172e-05	0.0006	1.524e-05	1.328e-05	0.0002	8.407e-05	0	0	0	0	0	0.0006	1.081e-05	3.326e-05	0.0002	3.287e-05	3.281e-05	1.286e-05	5.379e-05	0.0006	1.261e-05	7.98e-06	0.0002	9e-05	0	0	0	0	0	0	0	2.944e-05	0	0.0006	0.026	0.52492	D	0.094	0.39645	T	0.031	0.25085	B	0.053	0.31755	B	0.000001	0.84330	D	0.057363	0.999999	0.58761	D	2.545	0.74286	M	-1.74	0.83413	D	-4.11	0.74980	D	0.53	0.58202	-0.1387	0.79197	T	0.525	0.82297	D	10	0.30674157	0.48182	T	0.065433	0.69577	D	0.158	0.41098	0.43	0.47843	0.952252590806	0.95175	0.3961909125880007	0.39534	0.367955838784	0.38357	0.612158894539	0.54622	T	0.318399	0.68978	T	-0.0820839	0.39377	T	-0.0762492	0.65177	T	0.433174647102598	0.30178	T	0.873613	0.58827	D	0.363702	0.58116	0.3370962	0.59504	0.363702	0.58116	0.3370962	0.59503	-7.786	0.66224	D	.	.	0.086	0.30291	B	.;.;.;.	.;.;.;.	4.677297	0.74812	26.2	0.99777226173188882	0.86433	0.99414	0.95724	D	AEFBI	0.802599	0.72797	D	0.305134675440952	0.56411	3.805848	0.465341044755817	0.65707	4.858049	0.999999994653249	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.94	5.94	0.96165	7.562000	0.81274	9.958000	0.82775	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1351:0.8648:0.0	15.814	0.78361	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	335.43	33	chr12	43799462	.	G	A	335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.281;DP=335;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=0.357;SOR=0.755	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,848	9	0	1	0
chr12	45036049	45036049	G	A	exonic	DBX2	.	nonsynonymous SNV	DBX2:NM_001004329:exon2:c.C469T:p.R157W	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.22128554262	0.0010	0.000399361	0.0006	0.0006	9.259e-05	0	0	0.0008	0.0013	0.0006	0.0005692	88	154602	rs138216785	0.0009	0.0009	0.0009	0.0009	0.0026	0.0009	0.0008	0.0016	0.0013	0.0006	0.0001	0.0031	0	0	0.0026	0.0010	0.0007	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0004	0.0004	0.0006	0.0275	0.0005	0.0023	0.0002	0	0	0.0006	0	0.0006	0.005	0.63226	D	0.006	0.70582	D	0.999	0.77913	D	0.642	0.52168	P	0.001176	0.39978	N	0.112670	0.995255	0.42610	D	1.845	0.48678	L	-2.88	0.91533	D	-1.57	0.37955	N	0.539	0.56662	0.346	0.88272	D	0.683	0.89040	D	10	0.015768528	0.00331	T	0.221286	0.87799	D	0.423	0.73152	.	.	0.697080698451	0.69446	0.43743327417388733	0.43660	0.477986179833	0.46890	0.363723635674	0.19926	T	0.029684	0.21214	T	-0.205146	0.20067	T	-0.107987	0.62772	T	0.0408485498677449	0.03845	T	0.927207	0.73169	D	0.08991861	0.21024	0.10049926	0.24032	0.08991861	0.21024	0.10049926	0.24031	-3.663	0.18773	T	.	.	0.103	0.18456	B	.	.	3.825740	0.55270	23.6	0.99631457067569218	0.76081	0.96606	0.69985	D	AEFBI	0.834644	0.75267	D	0.300347462334199	0.56167	3.781053	0.326933964097619	0.57127	3.877539	0.995361218478635	0.34087	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.95	5.04	0.67293	5.148000	0.64701	8.214000	0.76818	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:0.8613:0.1387	16.106	0.81034	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001045	0.005102	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1237.43	33	chr12	45036049	.	G	A	1237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.208;DP=393;ExcessHet=0;FS=2.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=2.19;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	9	0	1	0
chr12	45852519	45852519	A	G	exonic	ARID2	.	nonsynonymous SNV	ARID2:NM_001347839:exon15:c.A4396G:p.S1466G,ARID2:NM_152641:exon15:c.A4396G:p.S1466G	.	429	1092	1	0	0	1	0.000457666	.	.	.	2774809	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	0.0125058065254	7.7e-05	.	7.415e-05	9.612e-05	0.0004	0	0	2.997e-05	0	6.056e-05	6.47e-05	10	154602	rs141396339	1.915e-05	1.915e-05	2.45e-05	1.375e-05	0.0002	1.328e-05	1.144e-05	4.358e-05	2.767e-05	0	0.0001	0	0	0	0.0002	1.529e-05	1.656e-05	4.637e-05	2.626e-05	3.281e-05	1.285e-05	4.028e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.075	0.45530	T	0.982	0.63424	D	0.952	0.74454	D	0.000039	0.55875	D	0.225384	0.927833	0.42492	D	1.04	0.26193	L	1.31	0.35405	T	-0.51	0.22944	N	0.658	0.77601	-0.8768	0.50013	T	0.137	0.45280	T	10	0.41568485	0.56525	T	0.012506	0.31146	T	0.209	0.49871	.	.	0.36413608308	0.36018	0.1961289181450538	0.19529	0.529290241434	0.50498	0.581927061081	0.50357	T	0.037084	0.24346	T	-0.130468	0.31422	T	-0.155885	0.58719	T	0.249917635582466	0.22869	T	0.861714	0.55578	D	0.36514628	0.58224	0.2569578	0.51404	0.36514628	0.58225	0.2569578	0.51403	-4.48	0.30626	T	.	.	0.134	0.37895	B	.;.;.;.	.;.;.;.	4.334617	0.66445	25.0	0.99673890086532613	0.78782	0.96957	0.71871	D	AEFBI	0.551342	0.56345	D	0.595090745516831	0.72868	5.87386	0.649612381939147	0.78580	6.905287	0.799516032727889	0.24161	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	4.584000	0.60682	11.207000	0.89260	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8695:0.0:0.0:0.1305	11.844	0.51647	834	0.38640	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2576.43	37	chr12	45852519	.	A	G	2576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.753;DP=548;ExcessHet=0;FS=5.308;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.336;SOR=0.603	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1353	9	0	1	0
chr12	45923022	45923022	T	C	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon13:c.A4039G:p.K1347E	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0140460157348	0.0005	0.000399361	0.0006	0.0007	0.0002	0	0.0002	0.0008	0	0.0003	0.0005886	91	154602	rs146172345	0.0011	0.0011	0.0011	0.0011	0.0013	0.0010	0.0010	0.0013	0.0012	8.961e-05	0.0003	3.826e-05	2.519e-05	1.872e-05	0.0003	0.0013	0.0012	0.0003	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0010	0.0009	0.0003	0	0.0002	0	0	0	0	0.0012	0.0005	0.0002	0.085	0.34982	T	0.183	0.29153	T	0.717	0.42239	P	0.18	0.35854	B	0.002173	0.37095	N	0.236663	0.732442	0.33733	D	1.845	0.48678	L	0.66	0.52416	T	-0.02	0.08653	N	0.202	0.27673	-0.9022	0.47760	T	0.096	0.36238	T	10	0.019759417	0.00446	T	0.014046	0.33902	T	0.078	0.22779	.	.	0.102598925029	0.09809	0.28772282256740944	0.28685	0.0884800177472	0.10002	0.354233920574	0.18543	T	0.086423	0.37720	T	-0.411205	0.01951	T	-0.419792	0.31100	T	0.0170265194643678	0.00451	T	0.871813	0.57812	D	0.07265105	0.16177	0.09037593	0.21189	0.07265105	0.16177	0.09037593	0.21189	-5.414	0.41054	T	.	.	0.142	0.31228	B	.;.;.	.;.;.	3.804134	0.54833	23.5	0.9958651360441354	0.73336	0.92382	0.55582	D	AEFGBI	0.451551	0.50548	N	0.123390694922054	0.47556	2.979629	0.235867578019921	0.51848	3.364023	0.680072360629302	0.22469	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.02	0.66742	3.674000	0.54333	6.696000	0.56356	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1475:0.8525	12.191	0.53582	849	0.35778	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1253.43	35	chr12	45923022	.	T	C	1253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.822;SOR=0.653	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1084	9	0	1	0
chr12	45927363	45927363	T	G	exonic	SCAF11	.	nonsynonymous SNV	SCAF11:NM_004719:exon11:c.A2338C:p.T780P	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00268613874495	.	0.000599042	0.0004	9.623e-05	0.0003	0.0002	0	0.0005	0	0.0006	0.0003946	61	154602	rs137901313	0.0004	0.0004	0.0003	0.0004	0.0019	0.0004	0.0003	0.0011	0.0008	2.987e-05	0.0002	7.652e-05	7.557e-05	1.872e-05	0.0019	0.0004	0.0006	0.0006	0.0004	0.0004	0.0005	0.0002	0.0006	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0004	0.0003	0.0002	0	0.0034	0.0006	0	0.0006	0.29	0.14996	T	0.372	0.16376	T	0.475	0.36638	P	0.047	0.24832	B	0.022414	0.01572	N	2.117220	1	0.08975	N	1.39	0.34934	L	2.18	0.32722	T	-0.28	0.13035	N	0.063	0.08786	-1.0424	0.16592	T	0.056	0.23450	T	10	0.009508461	0.00214	T	0.002686	0.05492	T	0.036	0.09122	.	.	0.165150595986	0.16160	0.09782510472252012	0.09713	0.0601548666932	0.06689	0.299746394157	0.10363	T	0.011838	0.40268	T	-0.538987	0.00340	T	-0.632499	0.10226	T	0.00895828562709368	0.00112	T	0.314968	0.19272	T	0.054871935	0.10589	0.03679271	0.03197	0.054871935	0.10588	0.03679271	0.03196	-4.387	0.29571	T	.	.	0.101	0.22573	B	.;.;.	.;.;.	0.260980	0.06395	2.861	0.57891889694222987	0.05869	0.06290	0.12284	N	AEFGBI	0.079472	0.16051	N	-1.08163389495195	0.06982	0.322989	-1.2017298169754	0.05883	0.2815593	0.988280516447406	0.31463	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.57	-6.47	0.01731	-0.003000	0.12836	-0.151000	0.11419	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2066:0.3385:0.304:0.1509	2.159	0.03587	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.008621	0.012195	0.000000	0.05	2629.43	35	chr12	45927363	.	T	G	2629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3;DP=541;ExcessHet=0;FS=5.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.19;ReadPosRankSum=2.02;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1142:.	9	0	1	0
chr12	47748856	47748856	C	T	exonic	RAPGEF3	.	nonsynonymous SNV	RAPGEF3:NM_001098532:exon10:c.G991A:p.A331T,RAPGEF3:NM_001098531:exon11:c.G1117A:p.A373T,RAPGEF3:NM_006105:exon11:c.G991A:p.A331T	.	419	1101	2	0	0	2	0.000907441	.	.	.	2431449	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0177914816699	0.0002	.	8.239e-05	0	0	0.0001	0	0.0001	0	0	7.12e-05	11	154602	rs370751497	9.646e-05	9.782e-05	9.938e-05	9.351e-05	0.0003	8.31e-05	7.85e-05	0.0001	9.595e-05	0	4.473e-05	0	2.519e-05	0	0.0003	0.0001	6.624e-05	0	4.601e-05	4.597e-05	5.139e-05	4.037e-05	0.0003	2.11e-05	1.527e-05	8.876e-05	5.385e-05	0	0	0.0003	0	0	0	0	4.412e-05	0	0	0.42	0.16466	T	0.506	0.21545	T	0.001	0.07471	B	0.001	0.04355	B	0.501814	0.05096	N	1.296300	1	0.08975	N	-0.345	0.03330	N	-0.36	0.71068	T	-0.47	0.21429	N	0.016	0.01498	-1.0162	0.24948	T	0.158	0.49094	T	10	0.044751108	0.03467	T	0.017791	0.39625	T	0.042	0.11227	.	.	0.427368086475	0.42351	0.2808053565358004	0.27993	0.189808599766	0.21301	0.340394675732	0.16498	T	0.09119	0.38743	T	-0.466555	0.00894	T	-0.659641	0.08291	T	0.0138330443888889	0.00262	T	0.634936	0.24909	T	0.028518353	0.02202	0.038909484	0.03866	0.028518353	0.02201	0.038909484	0.03865	-4.164	0.27441	T	.	.	0.061	0.01215	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.615661	0.01529	0.098	0.71422524652225305	0.09624	0.01534	0.05046	N	AEFDGBI	0.052234	0.09304	N	-1.15533347066281	0.05693	0.260179	-1.17012306972094	0.06413	0.3086689	0.997626386858719	0.35831	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.19	0.075	0.13708	-1.977000	0.01585	-6.561000	0.01365	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.182000	0.21359	0.0:0.4622:0.1579:0.38	4.558	0.11544	894	0.26265	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1295.43	33	chr12	47748856	.	C	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.503;DP=470;ExcessHet=0;FS=2.199;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.386;SOR=0.908	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1269	9	0	1	0
chr12	47795970	47795970	G	A	exonic	HDAC7	.	nonsynonymous SNV	HDAC7:NM_001308090:exon8:c.C791T:p.P264L,HDAC7:NM_001368046:exon9:c.C884T:p.P295L,HDAC7:NM_015401:exon9:c.C842T:p.P281L	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	0.00339457	0.0059	0	0	0	0	0	0	0.0112	0.0008085	125	154602	rs566486430	0.0006	0.0006	0.0003	0.0009	0.0100	0.0006	0.0006	0.0095	0.0092	3.161e-05	2.797e-05	0	0.0002	0	0.0002	1.112e-05	0.0008	0.0100	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	2.407e-05	0	0	0	0	0	0	1.471e-05	0.0009	0.0114	0.164	0.24564	T	0.437	0.13872	T	0.048	0.33710	B	0.009	0.23121	B	0.688423	0.06131	N	1.147010	0.670117	0.81001	D	0.47	0.13106	N	0.61	0.53731	T	-0.99	0.29933	N	0.444	0.51315	-0.9950	0.31299	T	0.063	0.26101	T	10	0.007281482	0.00166	T	.	.	.	0.075	0.21907	.	.	0.378526890672	0.37469	0.2780134307797438	0.27714	0.946704540343	0.72437	0.611856937408	0.54579	T	0.151197	0.49102	T	-0.450608	0.01120	T	-0.410648	0.32150	T	0.0517027588641298	0.05796	T	0.833717	0.51273	T	0.03181217	0.03091	0.030325234	0.01475	0.03181217	0.03090	0.030325234	0.01475	-3.284	0.18364	T	.	.	0.110	0.30791	B	.;.;.;.	.;.;.;.	3.404764	0.47205	22.4	0.97072488000075352	0.32243	0.80662	0.40242	D	AEFGBI	0.248457	0.36886	N	-0.56610178279728	0.19982	1.050008	-0.407223476273194	0.24785	1.359189	0.998468056854402	0.37014	0.732398	0.92422	0	0.643519	0.57511	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	3.97	2.07	0.26004	2.994000	0.49121	8.486000	0.77314	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1038:0.1809:0.5293:0.186	2.804	0.05090	888	0.27761	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001615	0.000000	0.001453	0.000000	0.000000	0.000000	0.000000	0.008065	0.05	1247.43	33	chr12	47795970	.	G	A	1247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.79;ReadPosRankSum=0.729;SOR=0.75	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1214	9	0	1	0
chr12	47984115	47984115	G	A	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon28:c.C1706T:p.T569I,COL2A1:NM_001844:exon29:c.C1913T:p.T638I	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	3	1518	1	0	0	1	0.000329272	.	.	.	254545	Type_II_Collagenopathies|Stickler_syndrome_type_1|not_specified|Multiple_epiphyseal_dysplasia,_Beighton_type|Spondyloepimetaphyseal_dysplasia,_Strudwick_type|Spondyloepiphyseal_dysplasia,_Stanescu_type|Avascular_necrosis_of_femoral_head,_primary,_1|Achondrogenesis_type_II|Spondyloperipheral_dysplasia|Platyspondylic_dysplasia,_Torrance_type|Spondylometaphyseal_dysplasia_-_Sutcliffe_type|Stickler_syndrome,_type_I,_nonsyndromic_ocular|Legg-Calve-Perthes_disease|Kniest_dysplasia|Spondyloepiphyseal_dysplasia_congenita|Namaqualand_hip_dysplasia|Spondyloepiphyseal_dysplasia_with_metatarsal_shortening|Vitreoretinopathy_with_phalangeal_epiphyseal_dysplasia|Connective_tissue_disorder|not_provided	MedGen:CN043672|MONDO:MONDO:0007160,MedGen:C2020284,OMIM:108300,Orphanet:828,Orphanet:90653|MedGen:CN169374|MONDO:MONDO:0007562,MedGen:C1851536,OMIM:132450,Orphanet:166011|MONDO:MONDO:0008476,MedGen:C0700635,OMIM:184250,Orphanet:93346|MONDO:MONDO:0014701,MedGen:C4225273,OMIM:616583,Orphanet:459051|MONDO:MONDO:0054550,MedGen:C4551562,OMIM:608805,Orphanet:86820|MONDO:MONDO:0008702,MedGen:C0220685,OMIM:200610,Orphanet:932,Orphanet:93296|MONDO:MONDO:0010078,MedGen:C0796173,OMIM:271700,Orphanet:1856|MONDO:MONDO:0007895,MedGen:C1835437,OMIM:151210,Orphanet:85166|MONDO:MONDO:0008479,MedGen:C0432221,OMIM:184255,Orphanet:93315|MONDO:MONDO:0012287,MedGen:C1836080,OMIM:609508|Human_Phenotype_Ontology:HP:0003280,Human_Phenotype_Ontology:HP:0005743,Human_Phenotype_Ontology:HP:0006448,Human_Phenotype_Ontology:HP:0010887,MONDO:MONDO:0007885,MedGen:C1442965,OMIM:150600,Orphanet:2380|MONDO:MONDO:0007987,MedGen:C0265279,OMIM:156550,Orphanet:485|MONDO:MONDO:0008471,MedGen:C2745959,OMIM:183900,Orphanet:94068|MONDO:MONDO:0011496,MedGen:C0432214,OMIM:604864,Orphanet:93279|MONDO:MONDO:0012206,MedGen:C1836683,OMIM:609162,Orphanet:137678|MONDO:MONDO:0031001,MedGen:C1852989,OMIM:619248|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.408	.	7.7e-05	0.00539137	0.0026	0.0004	9.544e-05	0.0307	0	3.316e-05	0.0013	0.0012	0.0021863	338	154602	rs41263847	0.0007	0.0007	0.0007	0.0007	0.0195	0.0006	0.0006	0.0184	0.0180	0.0004	6.716e-05	0	0.0195	0	0.0005	1.529e-05	0.0013	0.0011	0.0010	0.0011	0.0009	0.0012	0.0242	0.0009	0.0009	0.0208	0.0195	0.0004	0	0.0002	0	0.0242	0	0	2.941e-05	0.0014	0.0023	0.24	0.23631	T	0.218	0.26714	T	0.243	0.33761	B	0.033	0.28123	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.295	0.32453	L	-3.09	0.92613	D	-0.82	0.28290	N	0.491	0.52475	-0.2449	0.76496	T	0.349	0.71313	T	10	0.018857718	0.00414	T	.	.	.	0.408	0.72022	.	.	0.882536754685	0.88138	0.40028117147325804	0.39943	1.35263835485	0.84112	0.753973186016	0.75033	T	0.315063	0.68670	T	-0.134467	0.30774	T	0.0570689	0.74050	D	0.0121855560590081	0.00195	T	0.835416	0.50550	T	0.1975994	0.41630	0.14694612	0.34794	0.18995573	0.40559	0.1451533	0.34436	-7.727	0.59195	D	0.0810402751614333	0.04148	0.201	0.42535	B	.;.	.;.	3.945714	0.57774	23.9	0.99523705076551194	0.69407	0.93155	0.57469	D	AEFDBI	0.640751	0.61833	D	-0.0991542594636143	0.37428	2.177479	0.103145118365827	0.44709	2.74744	0.999993785552668	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.18	5.18	0.71140	1.997000	0.40406	11.852000	0.98107	0.676000	0.76740	0.932000	0.32345	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.622	0.87987	620	0.66037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1520.43	34	chr12	47984115	.	G	A	1520.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.077;DP=445;ExcessHet=0;FS=1.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.005;SOR=0.535	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1143	9	0	1	0
chr12	48074492	48074492	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon8:c.A772G:p.I258V,SENP1:NM_001267595:exon8:c.A772G:p.I258V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00152037478945	.	.	1.657e-05	0	0	0.0001	0	0	0.0011	0	1.29e-05	2	154602	rs745761476	1.026e-05	1.026e-05	6.807e-06	1.375e-05	0.0003	6.16e-06	4.89e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	5.396e-06	3.313e-05	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07497	T	0.51	0.10821	T	0.001	0.09854	B	0.001	0.08700	B	0.070086	0.21562	N	0.440276	1	0.81001	D	1.935	0.51832	L	2.54	0.13916	T	0.09	0.06138	N	0.063	0.03502	-0.9755	0.36015	T	0.017	0.06902	T	10	0.035245	0.01764	T	0.00152	0.02369	T	0.035	0.08770	0.23	0.15705	0.21174354426	0.20776	0.1468507035056895	0.14607	.	.	0.370079100132	0.20844	T	0.054174	0.29650	T	-0.526233	0.00404	T	-0.757005	0.03221	T	0.026105194603126	0.01420	T	0.60094	0.22456	T	0.013277736	0.00054	0.023983514	0.00413	0.013277736	0.00054	0.023983514	0.00413	-2.554	0.06161	T	.	.	0.060	0.02670	B	.;.;.	.;.;.	0.881135	0.12544	9.072	0.58173577567797863	0.05933	0.56985	0.30258	D	AEDGBIJ	0.085622	0.17358	N	-0.731727795187249	0.15133	0.7600618	-0.572143019622009	0.20220	1.088429	0.00311413983052615	0.09935	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.84	1.01	0.19044	-0.073000	0.11428	0.466000	0.18665	-0.119000	0.14319	0.989000	0.36753	0.999000	0.35428	0.997000	0.79791	0.0:0.2479:0.1518:0.6004	4.834	0.12818	496	0.76301	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1448.43	34	chr12	48074492	.	T	C	1448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.427;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=1.61;SOR=0.773	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr12	48088943	48088943	T	C	exonic	SENP1	.	nonsynonymous SNV	SENP1:NM_001267594:exon5:c.A238G:p.S80G,SENP1:NM_001267595:exon5:c.A238G:p.S80G	.	429	1056	37	0	0	37	0.0172173	.	.	.	702319	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.048	.	0.0039	0.00299521	0.0092	0.0005	0.0027	0.0003	0.0343	0.0101	0.0171	0.0060	0.0054527	843	154602	rs112688170	0.0050	0.0050	0.0049	0.0051	0.0210	0.0049	0.0049	0.0179	0.0168	0.0007	0.0018	0.0345	2.572e-05	0.0284	0.0210	0.0035	0.0067	0.0045	0.0053	0.0053	0.0045	0.0062	0.0043	0.0050	0.0049	0.0039	0.0038	0.0005	0.0077	0.0024	0.0326	0.0002	0.0300	0.0170	0.0043	0.0028	0.0021	0.004	0.65419	D	0.202	0.27414	T	0.018	0.20002	B	0.025	0.25995	B	0.000851	0.41440	D	0.194749	1	0.81001	D	0.805	0.20218	L	2.38	0.15843	T	-0.97	0.56144	N	0.256	0.29313	-1.0899	0.05549	T	0.024	0.10419	T	10	0.0037702918	0.00070	T	.	.	.	0.048	0.13305	.	.	0.338449385132	0.33456	0.28745014231400146	0.28658	.	.	0.442630141973	0.30936	T	0.10795	0.42057	T	-0.554129	0.00275	T	-0.566132	0.15806	T	0.019706397154617	0.00672	T	0.780822	0.41560	T	0.121635914	0.28599	0.12576467	0.30298	0.121635914	0.28599	0.12576467	0.30297	-4.725	0.33705	T	.	.	0.085	0.17488	B	.;.;.;.	.;.;.;.	3.339620	0.46013	22.2	0.99198206286095336	0.55201	0.98662	0.85282	D	AEFBI	0.565628	0.57194	D	-0.0592072060781748	0.39192	2.307282	0.143442539337478	0.46794	2.919761	0.984952414377167	0.30802	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.666000	0.61248	5.086000	0.47311	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.545	0.67616	497	0.76227	.;.;.;.	.	.	.	.	rs112688170	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.005051	0.019022	0.017544	0.000000	0.017241	0.015244	0.007576	0.05	398.43	34	chr12	48088943	.	T	C	398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.112;DP=338;ExcessHet=0;FS=1.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=-0.191;SOR=0.929	GT:AD:DP:GQ:PL	0/0:41,0:41:95:0,95,1223	9	0	1	0
chr12	48203268	48203268	T	G	exonic	OR10AD1	.	nonsynonymous SNV	OR10AD1:NM_001004134:exon1:c.A25C:p.T9P	.	431	1057	34	0	0	34	0.0158287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0038	0.00299521	0.0065	0.0004	0.0020	0.0001	0.0260	0.0072	0.0178	0.0054	0.0058408	903	154602	rs112948514	0.0073	0.0073	0.0073	0.0073	0.0154	0.0071	0.0071	0.0124	0.0113	0.0006	0.0018	0.0340	2.773e-05	0.0274	0.0154	0.0047	0.0082	0.0049	0.0052	0.0052	0.0044	0.0061	0.0043	0.0049	0.0048	0.0039	0.0037	0.0005	0.0077	0.0018	0.0323	0.0002	0.0292	0.0170	0.0043	0.0028	0.0031	0.004	0.65419	D	0.029	0.54541	D	0.534	0.37787	P	0.143	0.33763	B	0.041180	0.23978	N	0.207594	1	0.08975	N	1.685	0.43254	L	4.4	0.02215	T	-3.22	0.64939	D	0.395	0.43610	-0.9549	0.40114	T	0.006	0.01944	T	10	0.004396379	0.00089	T	.	.	.	0.090	0.26093	.	.	0.29132392195	0.28731	0.3578521323055992	0.35699	0.0986389603971	0.11146	0.284889936447	0.08183	T	0.018115	0.14658	T	-0.471763	0.00829	T	-0.447819	0.27938	T	0.0196901589367616	0.00671	T	0.506749	0.16047	T	0.28944045	0.51940	0.40771738	0.65109	0.28944045	0.51940	0.40771738	0.65109	-8.131	0.61959	D	.	.	0.137	0.29914	B	.	.	1.241742	0.16376	12.50	0.95192574500094318	0.26377	0.39853	0.26306	N	AEFBCI	0.339312	0.43650	N	-0.503047978824176	0.21981	1.170499	-0.618759201248743	0.19011	1.018176	0.0338251342059499	0.14124	0.497415	0.19182	0	0.514364	0.08380	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.36	1.73	0.23565	0.839000	0.27239	-0.234000	0.10651	0.645000	0.52629	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1739:0.1855:0.0:0.6406	3.208	0.06275	736	0.53558	.	.	.	.	.	rs112948514	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.005051	0.017663	0.017544	0.000000	0.025862	0.015244	0.007576	0.05	954.43	63	chr12	48203268	.	T	G	954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.895;DP=565;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.462;SOR=1.14	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:63,0:63:99:.:.:0,120,1800:.	9	0	1	0
chr12	49033018	49033018	G	C	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon40:c.C11687G:p.S3896C	Kabuki syndrome 1, Autosomal dominant	33	1486	1	2	0	5	0.00167954	.	.	.	3045043	Kabuki_syndrome	MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.347	0.324754731464	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204083573	4.288e-06	4.104e-06	4.231e-06	4.347e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	2.801e-05	0	0	0	0.0002	2.78e-06	0	1.262e-05	6.585e-06	6.572e-06	0	1.348e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.004	0.65419	D	.	.	.	0.698	0.41805	P	0.159	0.34693	B	0.248048	0.03628	N	1.732920	0.995513	0.23271	N	0	0.06538	N	-2.84	0.91305	D	-1.09	0.28290	N	0.258	0.29197	-0.2824	0.75475	T	0.541	0.83065	D	10	0.19795388	0.35747	T	0.324755	0.91579	D	0.347	0.66863	.	.	0.265735104816	0.26182	0.5319623093396836	0.53121	0.561950777347	0.52692	0.403527736664	0.25560	T	0.054626	0.29777	T	-0.0289231	0.47574	T	-0.156778	0.58640	T	0.207693964242935	0.20832	T	0.421758	0.11220	T	0.105398566	0.24921	0.0894729	0.20926	0.105398566	0.24920	0.0894729	0.20925	-8.792	0.66348	D	.	.	0.116	0.23325	B	.	.	3.333815	0.45906	22.2	0.8065163240212736	0.13304	0.95545	0.65148	D	AEFDBCI	0.408641	0.48024	N	-0.0112850472618738	0.41345	2.471307	0.0851921491076589	0.43803	2.674564	0.999999994477489	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	3.435000	0.52611	0.000000	0.13247	0.672000	0.70159	0.953000	0.33222	0.988000	0.31051	0.875000	0.41745	0.0:0.0:1.0:0.0	17.378	0.87288	400	0.82730	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2458.43	44	chr12	49033018	.	G	C	2458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.168;DP=743;ExcessHet=0;FS=1.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-1.894;SOR=0.855	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	9	0	1	0
chr12	49033739	49033739	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon40:c.C10966T:p.R3656C	Kabuki syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	138449	Kabuki_syndrome_1|not_provided|Kabuki_syndrome|not_specified	MONDO:MONDO:0007843,MedGen:CN030661,OMIM:147920,Orphanet:2322|MedGen:C3661900|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.815	0.713018745315	0.0002	.	7.69e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs201283589	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	9.772e-05	0.0001	0.0001	2.988e-05	8.951e-05	0.0006	0	0	0.0005	0.0001	9.94e-05	1.159e-05	7.889e-05	7.881e-05	6.425e-05	9.422e-05	0.0001	4.499e-05	3.514e-05	3.763e-05	2.575e-05	2.415e-05	0	0.0001	0.0006	0	0	0	8.822e-05	0.0005	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.971	0.72444	D	0.002144	0.37138	N	0.000000	0.99996	0.52935	D	1.445	0.36358	L	-1.35	0.80035	T	-1.87	0.43717	N	0.684	0.69037	0.106	0.84285	D	0.466	0.79400	T	10	0.6697521	0.70641	D	0.713019	0.97668	D	0.815	0.94046	.	.	0.375384844437	0.37152	0.5967219760068369	0.59603	0.749429864137	0.63691	0.6520216465	0.60273	T	0.065728	0.32763	T	0.0445508	0.57639	T	0.0238607	0.71880	D	0.171034593646659	0.18650	T	0.882712	0.60367	D	0.14247678	0.32786	0.14196461	0.33790	0.14247678	0.32785	0.14196461	0.33789	-6.229	0.48157	T	.	.	0.197	0.41932	B	.	.	4.130697	0.61814	24.4	0.97304973334982425	0.33299	0.94663	0.61905	D	AEFDBCI	0.725090	0.67419	D	0.525894939136781	0.68625	5.243142	0.586108093449022	0.73942	6.053842	0.99999999991969	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	4.728000	0.61694	11.757000	0.95541	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.199	0.89765	397	0.82902	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1980.43	44	chr12	49033739	.	G	A	1980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=732;ExcessHet=0;FS=4.263;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.485;SOR=1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	9	0	1	0
chr12	49040626	49040626	G	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon32:c.C7144T:p.P2382S	Kabuki syndrome 1, Autosomal dominant	1	1515	5	1	0	7	0.00230491	.	.	.	100147	not_specified|Kabuki_syndrome|not_provided	MedGen:CN169374|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.451	.	0.0037	0.0259585	0.0121	0.0016	0.0006	0.0812	0.0132	0.0052	0.0080	0.0175	0.0117463	1816	154602	rs3741626	0.0095	0.0095	0.0094	0.0095	0.0791	0.0093	0.0093	0.0768	0.0758	0.0011	0.0009	0.0030	0.0791	0.0122	0.0007	0.0069	0.0136	0.0163	0.0080	0.0080	0.0070	0.0090	0.0847	0.0076	0.0075	0.0782	0.0756	0.0011	0	0.0013	0.0035	0.0847	0.0121	0	0.0064	0.0085	0.0247	0.003	0.68238	D	.	.	.	0.835	0.46254	P	0.291	0.40706	B	0.002281	0.36846	N	0.000000	0.99726	0.43752	D	0.55	0.14455	N	-2.21	0.86963	D	-3.85	0.72353	D	0.537	0.56489	-0.4536	0.70281	T	0.080	0.31765	T	10	0.0025892258	0.00039	T	.	.	.	0.451	0.75143	.	.	.	.	0.15121423479883672	0.15043	0.647694144754	0.58144	0.640919685364	0.58695	T	0.235589	0.60288	T	-0.352605	0.04565	T	-0.209851	0.53710	T	0.050093358919277	0.05516	T	0.847115	0.52772	T	0.27476606	0.50542	0.35242093	0.60820	0.27476606	0.50542	0.35242093	0.60819	-6.892	0.53240	T	.	.	0.184	0.39865	B	.	.	3.398589	0.47086	22.4	0.9076651582377856	0.20016	0.97777	0.77057	D	AEFDBCI	0.855480	0.77260	D	0.48273183170353	0.66082	4.904329	0.528124942371798	0.69889	5.425394	0.999951441315682	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	6.613000	0.74063	8.606000	0.77748	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.912	0.88853	383	0.83590	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002018	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015267	0.05	3678.43	33	chr12	49040626	.	G	A	3678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.52;DP=636;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=1.19;SOR=0.68	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	9	0	1	0
chr12	49043419	49043419	C	A	exonic	KMT2D	.	nonsynonymous SNV	KMT2D:NM_003482:exon25:c.G5477T:p.G1826V	Kabuki syndrome 1, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	138418	not_specified|not_provided|Kabuki_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0016512,MedGen:C0796004,OMIM:PS147920,Orphanet:2322	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.379	.	.	0.00319489	0.0011	0	0	0	0	0	0.0011	0.0079	0.0009832	152	154602	rs574989512	0.0004	0.0004	0.0003	0.0006	0.0072	0.0004	0.0004	0.0068	0.0066	2.987e-05	0	0	0	0	0.0002	1.799e-06	0.0003	0.0072	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	7.221e-05	0	0	0	0	0	0	0	0	0.0114	0.018	0.50676	D	.	.	.	0.878	0.48285	P	0.276	0.40142	B	0.001985	0.37503	N	0.000000	0.999573	0.47641	D	1.1	0.28011	L	-1.25	0.79072	T	-0.81	0.22294	N	0.508	0.53972	-0.4525	0.70318	T	0.284	0.65547	T	10	0.0063448846	0.00143	T	.	.	.	0.379	0.69696	.	.	0.408804729114	0.40494	0.11605427748573852	0.11533	0.808941171003	0.66648	0.388146966696	0.23409	T	0.040638	0.25592	T	-0.290712	0.09565	T	-0.185518	0.56010	T	0.0393218724258198	0.03568	T	0.783822	0.42110	T	0.21467668	0.43880	0.16593054	0.38361	0.21467668	0.43880	0.16593054	0.38360	-4.183	0.26505	T	.	.	0.076	0.05935	B	.	.	4.193853	0.63231	24.6	0.94033623616603645	0.24149	0.41429	0.26655	N	AEFGBCI	0.162398	0.28856	N	-0.033678975006049	0.40334	2.393556	-0.00347880036737395	0.39559	2.347311	0.99187671659277	0.32639	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	4.65	0.57626	0.715000	0.25493	4.914000	0.45980	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.998000	0.85391	0.0:0.8458:0.1542:0.0	13.746	0.62356	377	0.83897	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1291.43	33	chr12	49043419	.	C	A	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.183;DP=471;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-1.794;SOR=0.594	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1343	9	0	1	0
chr12	49104501	49104501	T	G	exonic	LMBR1L	.	startloss	LMBR1L:NM_001352162:exon3:c.A208C:p.M70L,LMBR1L:NM_001352163:exon4:c.A1C:p.M1?,LMBR1L:NM_001352164:exon4:c.A1C:p.M1?,LMBR1L:NM_001352166:exon4:c.A1C:p.M1?,LMBR1L:NM_001300751:exon5:c.A382C:p.M128L,LMBR1L:NM_001352161:exon5:c.A382C:p.M128L,LMBR1L:NM_001352165:exon5:c.A1C:p.M1?,LMBR1L:NM_018113:exon5:c.A382C:p.M128L,LMBR1L:NM_001300750:exon6:c.A367C:p.M123L	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0178155512385	0.0037	0.00159744	0.0044	0.0010	0.0030	0.0018	0.0071	0.0063	0.0022	0.0003	0.0043596	674	154602	rs35343771	0.0052	0.0052	0.0053	0.0051	0.0061	0.0051	0.0050	0.0059	0.0059	0.0009	0.0036	0.0008	0.0006	0.0070	0.0017	0.0061	0.0034	0.0003	0.0039	0.0039	0.0040	0.0038	0.0066	0.0037	0.0036	0.0056	0.0052	0.0012	0.0033	0.0066	0.0006	0.0010	0.0044	0	0.0056	0.0024	0.0004	0.965	0.14064	T	1.0	0.01155	T	0.856	0.47190	P	0.881	0.62579	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.97	0.24054	L	2.07	0.20387	T	-0.27	0.21429	N	0.797	0.79310	-1.1181	0.02455	T	0.068	0.28047	T	10	0.011871874	0.00258	T	0.017816	0.39666	T	0.210	0.50028	0.559	0.67821	0.337868961071	0.33390	0.7318827650904166	0.73133	0.94361214933	0.72314	0.834320783615	0.87225	D	0.055669	0.30073	T	-0.256554	0.13307	T	-0.138686	0.60232	T	0.0616232943441148	0.07422	T	0.997528	0.98988	D	0.25232276	0.48247	0.1336047	0.32034	0.25232276	0.48247	0.1336047	0.32033	-5.631	0.43075	T	.	.	0.273	0.50654	B	.;.;.;.	.;.;.;.	3.579759	0.50455	22.9	0.9440691715089421	0.24801	0.98907	0.88457	D	AEFBI	0.916408	0.88257	D	0.353743138427909	0.58937	4.069241	0.473597896326854	0.66245	4.927139	0.99999999999569	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.07	6.07	0.98675	7.979000	0.87701	6.156000	0.54269	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.611	0.76469	363	0.84772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	328.43	37	chr12	49104501	.	T	G	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.545;DP=348;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.314;SOR=0.815	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1216	9	0	1	0
chr12	49272736	49272736	A	T	exonic	TUBA1C	.	nonsynonymous SNV	TUBA1C:NM_001303114:exon4:c.A1069T:p.T357S,TUBA1C:NM_032704:exon4:c.A859T:p.T287S,TUBA1C:NM_001303116:exon5:c.A754T:p.T252S,TUBA1C:NM_001303117:exon5:c.A754T:p.T252S,TUBA1C:NM_001303115:exon6:c.A754T:p.T252S	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0425553497617	0.0002	0.00119808	0.0004	0.0002	0.0004	0.0006	0.0002	0.0005	0	0.0002	0.0005763	15	26028	rs201310100	0.0009	0.0012	0.0010	0.0009	0.0010	0.0009	0.0009	0.0010	0.0010	0.0001	0.0007	0.0010	0.0005	0.0007	0.0002	0.0010	0.0008	0.0003	0.0009	0.0010	0.0009	0.0009	0.0014	0.0008	0.0008	0.0012	0.0011	0.0004	0	0.0009	0.0009	0.0014	0.0005	0	0.0014	0	0.0006	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.009	0.14300	B	0.006003	0.32339	N	0.275088	0.525882	0.31531	N	-1.15	0.00907	N	-1.8	0.83893	D	1.47	0.00765	N	0.02	0.00308	-0.8923	0.48731	T	0.151	0.47839	T	10	0.0078501105	0.00178	T	0.042555	0.60525	D	0.251	0.56024	0.38	0.39645	0.383609287871	0.37977	0.7743463970966473	0.77384	1.32921934275	0.83617	0.559234142303	0.47160	T	0.168054	0.52448	T	-0.219985	0.17994	T	-0.55377	0.16966	T	0.00135273094685827	0.00013	T	0.275172	0.19140	T	0.04480207	0.07226	0.048713833	0.07293	0.04480207	0.07226	0.048713833	0.07293	2.565	0.00031	T	.	.	0.061	0.05845	B	.;.;.	.;.;.	-0.173181	0.03229	0.542	0.64022020398734036	0.07380	0.06276	0.12269	N	AEFBHCI	0.129128	0.24717	N	-1.54642320906798	0.01555	0.06795273	-1.42411652042099	0.03012	0.1397143	0.999748646449728	0.42466	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.12	-5.47	0.02396	-1.601000	0.02184	-20.000000	0.00162	-2.158000	0.00371	0.000000	0.06391	0.000000	0.08366	0.735000	0.35267	0.3161:0.0:0.0:0.6839	13.825	0.62836	335	0.86220	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain;Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	175.43	53	chr12	49272736	.	A	T	175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.63;DP=650;ExcessHet=0;FS=32.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.35;MQRankSum=-6.556;QD=1.51;ReadPosRankSum=0.268;SOR=5.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,12:116:99:0|1:49272726_C_T:187,0,4151:49272726	9	0	1	0
chr12	49330881	49330881	C	T	exonic	TROAP	.	nonsynonymous SNV	TROAP:NM_005480:exon13:c.C2036T:p.P679L	.	414	1068	39	1	0	41	0.0188333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	.	0.0012	0.00279553	0.0033	9.705e-05	0.0003	0	0	0.0016	0.0077	0.0171	0.0029042	449	154602	rs151202383	0.0023	0.0023	0.0018	0.0027	0.0164	0.0022	0.0022	0.0157	0.0154	0.0002	0.0005	7.66e-05	0	7.651e-05	0.0132	0.0015	0.0024	0.0164	0.0012	0.0012	0.0011	0.0013	0.0112	0.0011	0.0010	0.0088	0.0080	0.0003	0	0.0003	0	0.0002	0	0.0204	0.0015	0.0024	0.0112	0.002	0.72154	D	0.002	0.92824	D	0.993	0.65571	D	0.608	0.51027	P	0.002031	0.37411	N	0.119814	0.792242	0.34401	D	2.255	0.64187	M	.	.	.	-5.07	0.82830	D	0.491	0.57518	-0.6156	0.64172	T	0.171	0.51293	T	9	0.0036646128	0.00067	T	.	.	.	0.171	0.43483	.	.	0.358540694251	0.35469	0.5002058081100541	0.49941	0.724235548467	0.62377	0.354177832603	0.18535	T	0.13271	0.46296	T	-0.302781	0.08399	T	-0.194727	0.55145	T	0.0593209418376601	0.07061	T	0.845915	0.52533	T	0.16959953	0.37486	0.17775902	0.40399	0.16959953	0.37486	0.17775902	0.40398	-4.074	0.24905	T	.	.	0.287	0.51951	B	.;.;.	.;.;.	3.944180	0.57739	23.9	0.99772410723977034	0.86003	0.22307	0.21702	N	AEFDGBCI	0.122227	0.23727	N	0.0927473183184727	0.46124	2.857777	0.0424489785806869	0.41708	2.510312	0.999999947508023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.67	4.78	0.60666	2.432000	0.44442	3.939000	0.40590	0.599000	0.40250	0.027000	0.20232	0.992000	0.31684	0.990000	0.65344	0.0:0.91:0.0:0.09	10.245	0.42516	201	0.92177	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.008621	0.015244	0.007576	0.05	2194.43	36	chr12	49330881	.	C	T	2194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=647;ExcessHet=0;FS=0.523;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.199;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	9	0	1	0
chr12	49490690	49490690	A	G	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon5:c.A223G:p.S75G,SPATS2:NM_023071:exon6:c.A223G:p.S75G,SPATS2:NM_001293285:exon7:c.A223G:p.S75G	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00210480452853	0.0027	0.00179712	0.0036	0.0006	0.0010	0	0.0080	0.0055	0.0044	0	0.0037128	574	154602	rs142230440	0.0039	0.0039	0.0040	0.0038	0.0044	0.0038	0.0038	0.0043	0.0043	0.0007	0.0010	0.0015	2.52e-05	0.0082	0.0033	0.0044	0.0034	0.0001	0.0031	0.0031	0.0030	0.0032	0.0047	0.0029	0.0028	0.0043	0.0041	0.0008	0	0.0007	0.0012	0	0.0083	0.0102	0.0047	0.0043	0.0002	0.081	0.61437	T	0.008	0.69154	D	0.104	0.25941	B	0.039	0.23607	B	0.010698	0.29823	N	0.364000	0.993484	0.23703	N	2.075	0.57047	M	.	.	.	-2.39	0.52612	N	0.297	0.33578	-0.9468	0.41515	T	0.101	0.37417	T	9	0.008061707	0.00183	T	0.002105	0.03882	T	0.034	0.08419	.	.	0.0934897674506	0.08844	0.13054203920872406	0.12979	0.312050624539	0.33506	0.51364928484	0.40733	T	0.080878	0.36467	T	-0.412415	0.01916	T	-0.355787	0.38541	T	0.0228098507062631	0.01002	T	0.568443	0.20183	T	0.14220098	0.32735	0.12549326	0.30237	0.14220098	0.32735	0.12549326	0.30236	-7.307	0.56246	T	.	.	0.069	0.06069	B	.;.;.;.	.;.;.;.	2.906392	0.38538	20.8	0.99462541440358387	0.65892	0.81429	0.40834	D	AEFBI	0.170981	0.29792	N	-0.0108968494486665	0.41361	2.472638	0.167421080392501	0.48072	3.028208	0.999983341207761	0.51787	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.24	5.24	0.72863	4.785000	0.62110	5.375000	0.48439	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	11.547	0.49955	173	0.93306	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	353.43	33	chr12	49490690	.	A	G	353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.816;DP=343;ExcessHet=0;FS=4.575;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.84;ReadPosRankSum=-0.097;SOR=1.164	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1055	9	0	1	0
chr12	49838825	49838825	C	T	exonic	BCDIN3D	.	nonsynonymous SNV	BCDIN3D:NM_181708:exon2:c.G425A:p.R142Q	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00813271893478	0.0032	0.00299521	0.0042	0.0011	0.0010	0	0.0024	0.0052	0.0033	0.0071	0.0041267	638	154602	rs145982210	0.0048	0.0048	0.0049	0.0047	0.0061	0.0047	0.0047	0.0057	0.0055	0.0006	0.0019	0.0021	2.519e-05	0.0022	0.0019	0.0054	0.0041	0.0061	0.0032	0.0032	0.0037	0.0028	0.0054	0.0030	0.0029	0.0049	0.0047	0.0010	0	0.0022	0.0023	0	0.0013	0.0034	0.0054	0.0014	0.0050	0.542	0.06757	T	0.572	0.08746	T	0.149	0.27956	B	0.008	0.13708	B	0.000593	0.43095	N	0.241574	1	0.08975	N	1.805	0.47535	L	0.89	0.45636	T	-0.79	0.21860	N	0.08	0.05542	-1.0480	0.14960	T	0.044	0.19070	T	10	0.004988134	0.00107	T	0.008133	0.21547	T	0.029	0.06676	.	.	0.33340067248	0.32956	0.6479157828531507	0.64726	0.150802290062	0.17009	0.33979767561	0.16408	T	0.006067	0.05507	T	-0.524699	0.00413	T	-0.523441	0.19946	T	0.00949717499429595	0.00122	T	0.780122	0.41468	T	0.15161437	0.34457	0.085644804	0.19788	0.15161437	0.34456	0.085644804	0.19788	-5.284	0.39784	T	.	.	0.101	0.17488	B	.	.	3.328324	0.45808	22.2	0.99807371135069456	0.89174	0.46601	0.27796	N	AEFDGBCI	0.056253	0.10384	N	-0.478164655997806	0.22798	1.219837	-0.393901366503099	0.25177	1.383074	0.999486479690278	0.39952	0.712529	0.81865	0	0.69481	0.67340	0	0.635938	0.45252	0	0.683535	0.66460	0	.	.	5.42	3.58	0.40133	2.039000	0.40815	4.844000	0.45312	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.803000	0.37862	0.1535:0.5965:0.1654:0.0847	4.435	0.10970	292	0.88363	Bin3-type S-adenosyl-L-methionine binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001036	0.000000	0.000000	0.003497	0.000000	0.000000	0.003049	0.000000	0.05	1620.43	34	chr12	49838825	.	C	T	1620.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=449;ExcessHet=0;FS=4.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.296;SOR=0.965	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1066	9	0	1	0
chr12	49965013	49965013	G	A	exonic	AQP5	.	nonsynonymous SNV	AQP5:NM_001651:exon4:c.G634A:p.V212M	Palmoplantar keratoderma, Bothnian type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2098506	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.362	0.135548439933	0.0002	0.000798722	0.0006	0.0002	0	0.0072	0.0002	0.0001	0	0	0.0005498	85	154602	rs75180659	0.0004	0.0004	0.0004	0.0004	0.0091	0.0004	0.0004	0.0083	0.0080	5.974e-05	4.474e-05	0	0.0091	0.0002	0	0.0001	0.0009	2.32e-05	0.0003	0.0003	0.0003	0.0003	0.0064	0.0002	0.0002	0.0047	0.0041	9.628e-05	0	6.533e-05	0	0.0064	0	0	0.0002	0	0	0.125	0.27310	T	0.084	0.41239	T	0.537	0.37852	P	0.109	0.31370	B	0.806705	0.09282	N	0.898910	0.99566	0.23235	N	1.685	0.43254	L	-2.49	0.89145	D	-1.19	0.30346	N	0.079	0.05414	-0.4325	0.70984	T	0.462	0.79162	T	10	0.015497923	0.00325	T	0.135548	0.81801	D	0.362	0.68230	.	.	0.786577214588	0.78460	0.3483922992044776	0.34753	0.379232026127	0.39320	0.429508984089	0.29140	T	0.575112	0.85995	D	-0.416431	0.01803	T	-0.365824	0.37376	T	0.0125065169004493	0.00207	T	0.882912	0.60466	D	0.18304525	0.39553	0.075474985	0.16620	0.1250962	0.29333	0.08839492	0.20609	-3.344	0.14311	T	0.2169034207409562	0.29184	0.170	0.37388	B	.	.	2.233441	0.28512	17.82	0.98056358108237052	0.37913	0.37535	0.25784	N	AEFDGBI	0.218943	0.34389	N	-0.424901376724311	0.24600	1.329377	-0.451105479170905	0.23517	1.282907	0.999893232497823	0.45129	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.2	-0.154	0.12744	0.015000	0.13250	0.207000	0.15917	-0.148000	0.12190	0.007000	0.17678	0.000000	0.08366	0.945000	0.48827	0.1453:0.2339:0.5011:0.1197	3.927	0.08767	227	0.91186	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1182.43	34	chr12	49965013	.	G	A	1182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.99;SOR=0.691	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	9	0	1	0
chr12	50120175	50120175	G	C	exonic	COX14	.	nonsynonymous SNV	COX14:NM_001257134:exon2:c.G132C:p.Q44H,COX14:NM_032901:exon2:c.G132C:p.Q44H,COX14:NM_001257133:exon3:c.G132C:p.Q44H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.10842539135	.	.	8.254e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs759102642	6.841e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.083	0.41405	T	0.415	0.35204	B	0.179	0.35808	B	0.119624	0.19067	N	0.431743	0.99959	0.20930	N	.	.	.	-1.25	0.79072	T	-1.37	0.33998	N	0.166	0.17553	-0.5823	0.65526	T	0.339	0.70494	T	9	0.19956031	0.35970	T	0.108425	0.78495	D	0.200	0.48430	0.181	0.08877	0.725690322096	0.72326	0.18386736808237217	0.18305	0.167350641781	0.18878	0.261188387871	0.05033	T	0.151186	0.49101	T	-0.13475	0.30729	T	-0.334482	0.40968	T	0.849902629852295	0.50158	D	0.39886	0.10126	T	0.09806414	0.23124	0.10560721	0.25391	0.09806414	0.23124	0.10560721	0.25390	-6.007	0.46339	T	0.2998005799108918	0.39709	0.184	0.39832	B	.;.;.;.	.;.;.;.	1.849431	0.23498	16.04	0.98873690256164648	0.47684	0.87132	0.46580	D	AEFGBI	0.617089	0.60340	D	-0.0891119967077419	0.37870	2.209503	-0.0462487485182839	0.37654	2.207536	0.999898449853081	0.45129	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	3.27	0.36580	2.269000	0.43005	1.891000	0.29518	0.676000	0.76740	0.993000	0.37899	0.977000	0.30130	0.539000	0.29915	0.0:0.3351:0.6649:0.0	14.917	0.70449	229	0.91079	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	59.52	35	chr12	50120175	.	G	C	59.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.115;DP=477;ExcessHet=0;FS=34.299;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=2.06;SOR=5.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,14:66:69:0|1:50120175_G_C:69,0,1491:50120175	6	0	1	3
chr12	50120177	50120177	G	C	exonic	COX14	.	nonsynonymous SNV	COX14:NM_001257134:exon2:c.G134C:p.R45P,COX14:NM_032901:exon2:c.G134C:p.R45P,COX14:NM_001257133:exon3:c.G134C:p.R45P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.266213280776	.	.	.	.	.	.	.	.	.	.	4.53e-05	7	154602	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.03	0.54159	D	0.997	0.70673	D	0.899	0.63802	P	0.003263	0.35183	N	0.136568	0.647093	0.32929	D	.	.	.	-1.37	0.80214	T	-4.77	0.80425	D	0.622	0.63883	0.395	0.89024	D	0.581	0.84924	D	9	0.76948106	0.76967	D	0.266213	0.89702	D	0.469	0.76355	0.416	0.45544	0.593315388404	0.59009	0.44223213540848866	0.44140	0.450404353452	0.44807	0.451355814934	0.32129	T	0.348356	0.71635	T	0.234568	0.77150	D	0.0991638	0.76852	D	0.990794003009796	0.81026	D	0.50065	0.15660	T	0.7545374	0.81133	0.5787692	0.75588	0.7545374	0.81134	0.5787692	0.75589	-7.862	0.60126	D	0.35586706419216857	0.45272	0.427	0.61035	A	.;.;.;.	.;.;.;.	3.453900	0.48109	22.6	0.99168230901121091	0.54298	0.93845	0.59357	D	AEFGBI	0.891099	0.82674	D	0.552577505294519	0.70238	5.472468	0.529954453449668	0.70015	5.443438	0.999995770045	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.410000	0.59530	8.584000	0.77658	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.723000	0.34869	0.1318:0.0:0.8682:0.0	8.938	0.34874	229	0.91079	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	60.47	35	chr12	50120177	.	G	C	60.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.601;DP=548;ExcessHet=0;FS=34.299;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.93;SOR=5.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,14:66:69:0|1:50120175_G_C:69,0,1491:50120175	5	0	1	4
chr12	50134563	50134563	C	A	exonic	CERS5	.	nonsynonymous SNV	CERS5:NM_001331070:exon9:c.G1012T:p.A338S,CERS5:NM_001331071:exon9:c.G1012T:p.A338S,CERS5:NM_147190:exon9:c.G1012T:p.A338S,CERS5:NM_001281731:exon10:c.G838T:p.A280S,CERS5:NM_001331069:exon10:c.G838T:p.A280S,CERS5:NM_001331072:exon10:c.G580T:p.A194S,CERS5:NM_001331073:exon10:c.G580T:p.A194S	.	426	1093	3	0	0	3	0.00137049	.	.	.	2396078	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.176	0.0119834152789	.	.	4.942e-05	0	0	0	0	4.495e-05	0	0.0002	3.88e-05	6	154602	rs776527448	4.994e-05	4.994e-05	3.539e-05	6.463e-05	0.0009	4.059e-05	3.734e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	3.957e-05	9.934e-05	0.0002	3.283e-05	3.281e-05	2.569e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0.0034	0	0.0005	0.0002	0.296	0.14694	T	0.568	0.10750	T	0.125	0.26866	B	0.074	0.28220	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.29	0.65257	M	2.63	0.12884	T	-1.73	0.41046	N	0.638	0.65074	-0.7019	0.60347	T	0.240	0.60750	T	10	0.39509186	0.55169	T	0.011983	0.30135	T	0.176	0.44373	0.452	0.51448	0.443285836454	0.43952	0.6155400670588785	0.61486	0.365336773763	0.38131	0.571252584457	0.48855	T	0.118161	0.43877	T	-0.188081	0.22540	T	-0.21175	0.53528	T	0.256752192974091	0.23172	T	0.906409	0.67021	D	0.28846425	0.51849	0.25472623	0.51143	0.28846425	0.51849	0.25472623	0.51142	-6.197	0.48936	T	.	.	0.201	0.42549	B	.;.	.;.	4.192946	0.63207	24.6	0.99353555017754025	0.60697	0.99078	0.90902	D	AEFDGBI	0.923791	0.90081	D	0.511213802635742	0.67751	5.123727	0.569980475936847	0.72799	5.866948	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.794000	0.84430	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	18.905	0.92430	229	0.91079	.;TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1155.43	33	chr12	50134563	.	C	A	1155.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.293;SOR=0.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	9	0	1	0
chr12	50351730	50351730	G	A	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.C5102T:p.S1701L	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00219649	0.0046	0	0	0	0	0.0002	0	0.0113	0.0007438	115	154602	rs201296648	0.0009	0.0009	0.0006	0.0012	0.0115	0.0009	0.0008	0.0109	0.0107	6.33e-05	5.605e-05	0	0	0	0.0042	0.0002	0.0008	0.0115	0.0005	0.0005	0.0002	0.0007	0.0110	0.0004	0.0003	0.0086	0.0078	2.407e-05	0	0	0	0	0	0	0.0002	0.0005	0.0110	0.098	0.30800	T	0.701	0.05707	T	0.806	0.45231	P	0.065	0.27321	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.7	0.04079	T	-1.41	0.34795	N	0.151	0.15469	-0.8956	0.48427	T	0.004	0.01435	T	9	0.0037343204	0.00069	T	.	.	.	0.026	0.05648	.	.	0.0551355673512	0.04727	0.09717193078689096	0.09648	.	.	0.248028412461	0.03563	T	0.00587	0.05316	T	-0.662967	0.00060	T	-0.714695	0.05056	T	0.0144191248480722	0.00291	T	0.346065	0.07604	T	0.03469306	0.03943	0.037097722	0.03290	0.03469306	0.03943	0.037097722	0.03290	-3.165	0.12058	T	.	.	0.107	0.24767	B	.;.	.;.	-0.748583	0.01213	0.060	0.93613420226562016	0.23478	0.01135	0.04122	N	AEFDBI	.	.	.	-1.53392419158946	0.01631	0.07130739	-1.65432445960199	0.01353	0.06111909	0.999999326465097	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.52	-5.66	0.02255	-2.637000	0.00940	-1.152000	0.06178	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4304:0.0:0.1825:0.3871	4.354	0.10605	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004348	0.000000	0.000000	0.009259	0.000000	0.000000	0.014085	0.000000	0.05	2137.43	87	chr12	50351730	.	G	A	2137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.93;SOR=0.743	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr12	50887425	50887425	C	A	exonic	TMPRSS12	.	nonsynonymous SNV	TMPRSS12:NM_182559:exon5:c.C959A:p.A320E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0248991672728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	0.125	0.35330	T	0.085	0.24868	B	0.015	0.17295	B	0.205766	0.03351	N	1.651230	1	0.18198	N	0.205	0.09354	N	-2.43	0.88689	D	-0.57	0.17210	N	0.059	0.03069	-0.6573	0.62395	T	0.412	0.75999	T	10	0.0957768	0.17131	T	0.024899	0.47884	T	0.168	0.42943	0.456	0.52102	0.469660041277	0.46594	0.4040471224969045	0.40320	0.176051985177	0.19819	0.268145501614	0.05900	T	7.51E-4	0.00354	T	-0.104056	0.35752	T	-0.387246	0.34873	T	0.128197342157364	0.15214	T	0.355964	0.08087	T	0.05873783	0.11853	0.08161378	0.18561	0.05873783	0.11853	0.08161378	0.18560	-3.375	0.14722	T	.	.	0.108	0.20508	B	.	.	0.318650	0.06933	3.477	0.50673489125479965	0.04426	0.02282	0.06579	N	AEFDI	0.045648	0.07490	N	-1.13930988621883	0.05957	0.2730109	-1.14753315561576	0.06813	0.3291874	6.69229723166238E-4	0.07575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.26	-0.383	0.11856	-0.011000	0.12659	0.050000	0.13987	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3059:0.2972:0.3969:0.0	8.347	0.31443	266	0.89551	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1797.43	39	chr12	50887425	.	C	A	1797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.733;DP=501;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=0.791;SOR=0.743	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1118	9	0	1	0
chr12	51291923	51291923	T	C	exonic	BIN2	.	nonsynonymous SNV	BIN2:NM_001364781:exon8:c.A1021G:p.S341G,BIN2:NM_001290008:exon9:c.A1087G:p.S363G,BIN2:NM_001290009:exon9:c.A811G:p.S271G,BIN2:NM_001290007:exon10:c.A1105G:p.S369G,BIN2:NM_001364779:exon10:c.A1180G:p.S394G,BIN2:NM_001364780:exon10:c.A1183G:p.S395G,BIN2:NM_016293:exon10:c.A1183G:p.S395G	.	413	1054	54	1	0	56	0.025878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0069	0.0061901	0.0069	0.0019	0.0043	0	0.0011	0.0101	0.0210	0.0041	0.0072444	1120	154602	rs117691477	0.0082	0.0082	0.0081	0.0083	0.0598	0.0080	0.0080	0.0546	0.0526	0.0025	0.0054	0.0226	7.557e-05	0.0007	0.0598	0.0087	0.0096	0.0048	0.0063	0.0063	0.0066	0.0060	0.0092	0.0060	0.0058	0.0086	0.0083	0.0019	0.0077	0.0066	0.0239	0	0.0011	0.0578	0.0092	0.0118	0.0023	0.005	0.63226	D	0.25	0.23707	T	.	.	.	.	.	.	0.134044	0.18530	N	0.552381	1	0.08975	N	.	.	.	-0.22	0.66474	T	-1.3	0.32590	N	0.101	0.08366	-0.0381	0.81459	T	0.627	0.86887	D	10	0.005218178	0.00114	T	.	.	.	0.151	0.39764	.	.	0.729024482968	0.72661	.	.	.	.	0.440217971802	0.30607	T	0.027653	0.20205	T	-0.472698	0.00818	T	-0.440743	0.28726	T	0.0274481654808206	0.01609	T	0.626337	0.24237	T	.	.	.	.	.	.	.	.	-6.919	0.53440	T	.	.	0.095	0.14933	B	.;.	.;.	3.583961	0.50537	23.0	0.97677817348493945	0.35294	0.60666	0.31261	D	AEFDGBHCI	0.132742	0.25216	N	-0.428853180268346	0.24463	1.321021	-0.363398670306346	0.26097	1.439343	0.999999999865107	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	1.347000	0.33580	2.133000	0.30793	0.665000	0.62972	0.626000	0.27965	1.000000	0.68203	0.449000	0.27873	0.0:0.0:0.0:1.0	10.367	0.43215	369	0.84396	.;.	.	.	.	.	rs117691477	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.048338	0.025253	0.052989	0.076023	0.050000	0.137931	0.033537	0.011364	0.05	1113.43	35	chr12	51291923	.	T	C	1113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.856;DP=434;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.418;SOR=0.672	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,952	9	0	1	0
chr12	51341283	51341283	T	G	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon5:c.A424C:p.N142H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.0710694041013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.026	0.55759	D	0.998	0.73220	D	0.97	0.72226	D	0.000110	0.50451	D	0.201649	0.999806	0.49283	D	1.195	0.30194	L	-2.43	0.88689	D	-3.62	0.69593	D	0.258	0.29197	0.271	0.87085	D	0.717	0.90290	D	10	0.36830625	0.53276	T	0.071069	0.71172	D	0.512	0.79094	0.617	0.75116	0.783247047901	0.78124	0.4468493704695534	0.44602	0.180464951162	0.20297	0.31728720665	0.13009	T	0.519467	0.83168	D	-0.0233687	0.48372	T	-0.271344	0.47683	T	0.960074663162231	0.65706	D	0.525947	0.17303	T	0.35840684	0.57714	0.31719327	0.57696	0.35840684	0.57714	0.31719327	0.57695	-9.62	0.71603	D	.	.	0.149	0.32945	B	.	.	2.338110	0.29957	18.29	0.99532510571281729	0.69963	0.69764	0.34318	D	ALL	0.384408	0.46554	N	0.104765132330059	0.46685	2.905107	0.0329442109269923	0.41254	2.475473	0.99999991918703	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	5.2	1.49	0.21966	1.099000	0.30625	-0.894000	0.07016	-1.448000	0.01097	1.000000	0.71638	0.012000	0.20211	0.966000	0.53164	0.0:0.148:0.1363:0.7156	6.130	0.19418	305	0.87738	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1483.43	38	chr12	51341283	.	T	G	1483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.543;DP=455;ExcessHet=0;FS=0.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.104;SOR=0.79	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr12	51342684	51342684	C	T	exonic	CELA1	.	nonsynonymous SNV	CELA1:NM_001971:exon4:c.G217A:p.V73M	.	428	1093	1	0	0	1	0.000457247	.	.	.	3303790	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.893	0.325534727345	0.0002	.	7.421e-05	9.625e-05	8.651e-05	0	0	0.0001	0	0	5.82e-05	9	154602	rs145791288	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	2.236e-05	0	0	0	0.0003	0.0003	4.967e-05	1.159e-05	2.629e-05	2.627e-05	3.855e-05	1.346e-05	4.41e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.41e-05	0	0	0.041	0.41915	D	0.016	0.60972	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.06	0.86941	M	-4.05	0.96496	D	-2.94	0.61435	D	0.846	0.84194	1.067	0.98520	D	0.929	0.97655	D	10	0.9299174	0.92333	D	0.325535	0.91601	D	0.893	0.96947	.	.	0.916288729468	0.91545	0.7135993069093439	0.71302	0.591077175418	0.54556	0.565438807011	0.48034	T	0.762551	0.93579	D	0.331359	0.85255	D	0.474866	0.94099	D	0.913032472133636	0.56916	D	0.918808	0.70803	D	0.7423358	0.80426	0.6428985	0.79130	0.7423358	0.80427	0.6428985	0.79131	-9.547	0.71151	D	.	.	0.656	0.71160	P	.	.	4.819463	0.78483	26.9	0.99771218298202502	0.85918	0.98640	0.85021	D	AEFDGBI	0.807879	0.73180	D	0.664872476260137	0.77336	6.654911	0.589770642658605	0.74202	6.097613	0.99999999999871	0.74766	0.428477	0.06694	0	0.491513	0.07743	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	7.349000	0.78620	7.363000	0.58355	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.373000	0.26178	0.0:1.0:0.0:0.0	17.770	0.88399	303	0.87825	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1986.43	35	chr12	51342684	.	C	T	1986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=472;ExcessHet=0;FS=0.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.204;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	9	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	285.81	41	chr12	51706661	.	G	C	285.81	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.243;DP=517;ExcessHet=1.5895;FS=243.364;InbreedingCoeff=-0.4255;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.824;SOR=9.15	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:34:86:.:.:0,86,576:.	2	0	4	4
chr12	52288139	52288139	T	C	exonic	KRT81	.	nonsynonymous SNV	KRT81:NM_002281:exon5:c.A745G:p.I249V	Monilethrix, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0229422292783	.	0.000599042	0.0012	0.0003	8.637e-05	0.0006	0.0027	0.0018	0	6.056e-05	0.0001035	16	154602	rs201895192	0.0013	0.0014	0.0013	0.0013	0.0035	0.0012	0.0012	0.0030	0.0028	0.0002	0.0004	3.826e-05	0.0035	0.0034	0.0012	0.0013	0.0010	0.0002	0.0012	0.0012	0.0011	0.0013	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0.0022	0.0004	0	0.0008	0.0021	0.0034	0.0020	0	0	0.667	0.04602	T	0.16	0.31427	T	0.0	0.02946	B	0.004	0.10090	B	0.204200	0.16524	N	0.427421	0.971842	0.25632	N	-1.2	0.00838	N	-2.37	0.88220	D	-0.02	0.07299	N	0.035	0.01911	-0.7309	0.58918	T	0.409	0.75810	T	9	0.036604404	0.01967	T	0.022942	0.45870	T	0.089	0.25827	.	.	0.450152462452	0.44640	0.01329685643363313	0.01287	0.309907384905	0.33296	0.328389286995	0.14690	T	0.181838	0.53365	T	-0.510022	0.00502	T	-0.535467	0.18744	T	0.00190337006743257	0.00019	T	0.122288	0.00950	T	0.025754977	0.01550	0.025031991	0.00535	0.025754977	0.01550	0.025031991	0.00535	-0.82	0.00821	T	0.07529034591452598	0.03338	0.068	0.03128	B	.;.	.;.	-0.906556	0.00914	0.034	0.66253889898564511	0.08005	0.01976	0.05979	N	AEFGBHCIJ	0.052172	0.09287	N	-1.05321906949635	0.07524	0.3498312	-1.08565133696048	0.07982	0.390514	0.999999949613699	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.59	1.13	0.19758	-0.125000	0.10555	.	.	-1.366000	0.01176	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4914:0.228:0.2805	6.531	0.21526	748	0.52143	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2220.43	259	chr12	52288139	.	T	C	2220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.892;DP=2099;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.87;MQRankSum=-2.357;QD=10.68;ReadPosRankSum=-1.308;SOR=0.72	GT:AD:DP:GQ:PL	0/0:213,0:213:99:0,120,1800	9	0	1	0
chr12	52305303	52305303	C	T	exonic	KRT86	.	nonsynonymous SNV	KRT86:NM_001320198:exon7:c.C799T:p.R267W	Monilethrix, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.0400846732099	.	0.00179712	0.0010	0.0002	8.637e-05	0.0001	0	0	0	0.0074	0.0008991	139	154602	rs527924718	0.0005	0.0005	0.0003	0.0008	0.0083	0.0005	0.0005	0.0078	0.0076	0.0001	2.236e-05	0	0	0	0.0005	3.147e-05	0.0006	0.0083	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	7.217e-05	0	6.536e-05	0	0	0	0	0	0	0.0077	0.026	0.46910	D	0.017	0.60337	D	0.752	0.43309	P	0.458	0.46341	P	0.002121	0.37183	U	0.000000	0.950099	0.37680	D	3.155	0.88459	M	-1.03	0.76430	T	-6.67	0.92346	D	0.855	0.85132	0.392	0.88976	D	0.580	0.84894	D	10	0.031207532	0.01253	T	0.040085	0.59179	D	0.640	0.86283	.	.	0.787429220385	0.78545	0.06255905535991658	0.06195	0.726824204541	0.62532	0.530881166458	0.43159	T	0.702289	0.91438	D	-0.0834117	0.39159	T	0.112395	0.77732	D	0.209865479603385	0.20946	T	0.918008	0.70480	D	0.43475062	0.63063	0.35416064	0.60965	0.41289797	0.61616	0.36675254	0.61998	-8.106	0.61791	D	0.5622268601804593	0.62991	0.346	0.56285	A	.;.	.;.	4.399689	0.67970	25.2	0.99891060901089068	0.96513	0.84878	0.43971	D	AEFDGBHCI	0.760494	0.69850	D	0.206191914521629	0.51499	3.330622	0.0844439248188568	0.43765	2.671622	0.999997778796696	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.600433	0.31921	0	0.63947	0.58350	0	.	.	4.51	-0.555	0.11216	0.261000	0.18211	.	.	0.501000	0.22741	0.983000	0.35670	0.000000	0.08366	0.997000	0.79791	0.5339:0.4661:0.0:0.0	14.233	0.65448	706	0.57215	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	4313.43	339	chr12	52305303	.	C	T	4313.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.96;DP=1255;ExcessHet=0;FS=10.043;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.41;MQRankSum=2.12;QD=12.72;ReadPosRankSum=0.12;SOR=1.134	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1280	9	0	1	0
chr12	52308255	52308255	G	A	exonic	KRT86	.	nonsynonymous SNV	KRT86:NM_001320198:exon10:c.G1270A:p.V424M	Monilethrix, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.047503892211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.208	0.26883	T	0.999	0.77913	D	0.942	0.67772	D	0.002256	0.36929	U	0.000000	0.582744	0.32389	D	2.91	0.84121	M	-1.77	0.83660	D	-2.65	0.56787	D	0.485	0.51940	0.373	0.88693	D	0.619	0.86568	D	10	0.49767128	0.61363	T	0.047504	0.62952	D	0.443	0.74588	0.397	0.42426	0.807455762245	0.80565	0.09040970562678684	0.08973	0.454143178451	0.45108	0.766031861305	0.76829	T	0.199022	0.55618	T	0.141343	0.68452	D	-0.0347466	0.68054	D	0.977590560913086	0.71919	D	0.920308	0.71149	D	0.10411263	0.24610	0.14443675	0.34291	0.10411263	0.24610	0.14443675	0.34290	-9.496	0.70834	D	0.3890419314986852	0.48247	0.316	0.54243	B	.;.	.;.	5.274889	0.88570	29.6	0.99825845723172157	0.90852	0.80253	0.39940	D	AEFDBCI	0.402490	0.47655	N	0.53481080168944	0.69163	5.318156	0.515985629414312	0.69063	5.307442	0.999999615682036	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	5.12	5.12	0.69459	4.445000	0.59749	.	.	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	15.733	0.77584	704	0.57414	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	444.43	40	chr12	52308255	.	G	A	444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.37;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.26;SOR=0.884	GT:AD:DP:GQ:PL	0/1:21,21:42:99:456,0,442	9	0	1	0
chr12	52319252	52319252	G	C	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon2:c.C497G:p.T166S	.	0	1513	9	0	0	9	0.0029654	.	.	.	333422	Monilethrix	Human_Phenotype_Ontology:HP:0032470,MONDO:MONDO:0008009,MedGen:C0546966,OMIM:PS158000,Orphanet:573	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.206	.	.	0.00379393	0.0016	0	0	0.0001	0	5.993e-05	0.0011	0.0117	0.0014489	224	154602	rs200690744	0.0008	0.0008	0.0004	0.0012	0.0128	0.0008	0.0008	0.0122	0.0120	2.988e-05	0	3.826e-05	0	0	0.0007	7.195e-06	0.0009	0.0128	0.0005	0.0005	0.0002	0.0008	0.0151	0.0004	0.0004	0.0123	0.0113	0	0	0	0	0	0	0	0	0	0.0151	0.113	0.28772	T	0.225	0.25514	T	0.29	0.32311	B	0.262	0.39564	B	0.000501	0.43931	U	0.000000	0.97728	0.25322	N	0.87	0.21467	L	-0.89	0.74793	T	-1.33	0.33197	N	0.193	0.21188	-0.6388	0.63197	T	0.312	0.68264	T	10	0.008940846	0.00202	T	.	.	.	0.206	0.49396	0.353	0.35246	0.691086290029	0.68843	0.05887976545614775	0.05828	0.102892121615	0.11642	0.61100268364	0.54457	T	0.124945	0.45031	T	-0.42697	0.01546	T	-0.375701	0.36225	T	0.0296262172753036	0.01932	T	0.113489	0.00864	T	0.18491252	0.39829	0.23303807	0.48481	0.18491252	0.39829	0.23303807	0.48480	-5.548	0.42315	T	0.12895795728825618	0.13416	0.140	0.30660	B	.	.	2.917450	0.38715	20.8	0.99160167864225657	0.54071	0.73602	0.36002	D	AEFDGBHCI	0.360399	0.45038	N	0.138738076057933	0.48278	3.042211	0.252689036212891	0.52803	3.452651	0.999999438815842	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.81	4.81	0.61401	2.275000	0.43058	.	.	0.676000	0.76740	0.994000	0.38300	0.000000	0.08366	0.835000	0.39381	0.0:0.0:0.6971:0.3029	11.671	0.50661	724	0.55085	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001068	0.000000	0.000000	0.000000	0.000000	0.000000	0.003165	0.003817	0.05	1599.43	144	chr12	52319252	.	G	C	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.033;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.833;SOR=0.654	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	36.13	68	chr12	52385056	.	G	C	36.13	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.028;DP=778;ExcessHet=0;FS=546.894;InbreedingCoeff=-0.0866;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=0.933;SOR=8.813	GT:AD:DP:GQ:PL	0/0:53,17:70:10:0,10,1276	8	0	1	1
chr12	52395156	52395156	C	T	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon9:c.G1361A:p.C454Y	.	.	.	.	.	.	.	.	.	.	.	3695738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.403	0.0806134270306	7.7e-05	.	8.338e-05	0	0	0	0	3.035e-05	0	0.0005	6.47e-05	10	154602	rs375426458	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0002	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0	1.799e-06	3.312e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0.0002	0.005	0.63226	D	0.231	0.25061	T	0.996	0.68779	D	0.804	0.58350	P	0.000666	0.42516	D	0.000000	0.999999	0.08975	N	1.85	0.49092	L	-1.63	0.82440	D	-1.59	0.38345	N	0.466	0.50237	-0.6001	0.64813	T	0.391	0.74503	T	10	0.36352515	0.52920	T	0.080613	0.73498	D	0.403	0.71636	.	.	0.689862804968	0.68720	0.14839489091316363	0.14761	0.384708731815	0.39768	0.513746500015	0.40747	T	0.069801	0.33801	T	-0.0613377	0.42697	T	-0.0213362	0.68942	D	0.819169223308563	0.47710	D	0.682432	0.29103	T	0.41981655	0.62079	0.28863057	0.54880	0.41981655	0.62080	0.28863057	0.54879	-4.53	0.31279	T	.	.	0.110	0.21049	B	.	.	3.811768	0.54986	23.6	0.97844798204635786	0.36352	0.10121	0.15714	N	AEFBI	0.181728	0.30905	N	-0.237568197178092	0.31602	1.773697	-0.302750156030375	0.28010	1.558411	0.980720760958245	0.30169	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.73	4.73	0.59485	2.794000	0.47545	.	.	0.599000	0.40250	0.017000	0.19353	1.000000	0.68203	0.273000	0.23843	0.0:1.0:0.0:0.0	13.561	0.61250	768	0.49510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1376.43	41	chr12	52395156	.	C	T	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.177;DP=487;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.372;SOR=0.704	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr12	52396963	52396963	G	A	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon6:c.C988T:p.R330C	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.141688595386	0.0011	0.000599042	0.0010	0.0017	0.0002	0	0.0002	0.0011	0.0022	0.0012	0.000925	143	154602	rs139209735	0.0006	0.0006	0.0006	0.0007	0.0042	0.0006	0.0006	0.0029	0.0024	0.0011	0.0004	0.0008	0	0.0001	0.0042	0.0006	0.0008	0.0012	0.0008	0.0008	0.0007	0.0009	0.0012	0.0007	0.0006	0.0007	0.0006	0.0009	0.0022	0.0003	0.0003	0	0.0006	0.0068	0.0008	0.0033	0.0012	0.017	0.51248	D	0.022	0.57587	D	0.127	0.26966	B	0.063	0.27082	B	0.000076	0.52346	D	0.000000	0.983455	0.40016	D	2.705	0.79137	M	-2.63	0.90083	D	-7.02	0.93786	D	0.297	0.33578	0.394	0.89000	D	0.722	0.90459	D	10	0.031328857	0.01267	T	0.141689	0.82410	D	0.460	0.75755	.	.	0.767735741357	0.76561	0.41788241260701847	0.41704	0.0826830038412	0.09327	0.361032187939	0.19536	T	0.555079	0.85004	D	-0.22638	0.17130	T	-0.138489	0.60249	T	0.0746199953984784	0.09285	T	0.913709	0.69301	D	0.3118815	0.53948	0.3581836	0.61299	0.3118815	0.53948	0.3581836	0.61299	-6.398	0.49494	T	.	.	0.123	0.25850	B	.	.	3.993923	0.58801	24.0	0.99823176131405977	0.90590	0.38310	0.25959	N	AEFBI	0.217225	0.34238	N	-0.0392781722324125	0.40083	2.374399	-0.0199253544056693	0.38817	2.292352	0.275181053958315	0.18933	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	4.25	0.49658	1.335000	0.33444	.	.	0.676000	0.76740	0.012000	0.18695	1.000000	0.68203	0.993000	0.69303	0.0836:0.0:0.7549:0.1616	7.722	0.27901	778	0.48011	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.002924	0.000000	0.025862	0.009146	0.000000	0.05	750.43	33	chr12	52396963	.	G	A	750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.922;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.676;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1152	9	0	1	0
chr12	52428646	52428646	C	G	exonic	KRT75	.	nonsynonymous SNV	KRT75:NM_004693:exon6:c.G1133C:p.R378T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.105601683641	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1222475285	2.736e-06	2.736e-06	1.361e-06	4.125e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.265	0.22694	T	0.999	0.77913	D	0.992	0.80445	D	0.001697	0.38271	N	0.114429	0.85787	0.35335	D	1.705	0.44259	L	-2.35	0.88066	D	-5.02	0.82511	D	0.541	0.56833	0.307	0.87672	D	0.681	0.88966	D	10	0.6862474	0.71580	D	0.105602	0.78080	D	0.556	0.81717	0.569	0.69167	0.729413103106	0.72701	0.6508277644876584	0.65018	0.555580429319	0.52254	0.276075541973	0.06951	T	0.462614	0.79890	T	0.0952893	0.63780	D	-0.1009	0.63329	T	0.990935504436493	0.81175	D	0.773423	0.40508	T	0.5046038	0.67364	0.47060174	0.69302	0.5046038	0.67365	0.47060174	0.69303	-10.756	0.78303	D	.	.	0.289	0.52119	B	.	.	3.972825	0.58349	24.0	0.98652130673973359	0.44206	0.94583	0.61639	D	AEFGBI	0.515640	0.54251	D	0.283679583113255	0.55321	3.696211	0.254390191951415	0.52900	3.46179	0.998944230225933	0.38034	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.88	3.99	0.45527	0.736000	0.25798	.	.	0.599000	0.40250	0.066000	0.21956	1.000000	0.68203	0.975000	0.56047	0.0:0.7661:0.0:0.2339	9.040	0.35474	768	0.49510	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5111.12	37	chr12	52428646	.	C	G	5111.12	.	AC=2;AF=0.1;AN=20;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.61;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	1	0	0
chr12	52493083	52493083	C	T	exonic	KRT6A	.	nonsynonymous SNV	KRT6A:NM_005554:exon1:c.G106A:p.V36I	Pachyonychia congenita 3	2	1516	4	0	0	4	0.00131752	.	.	.	738718	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00233574219705	.	.	0.0002	0.0012	8.654e-05	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs755172711	0.0002	0.0004	0.0002	0.0002	0.0022	0.0002	0.0002	0.0018	0.0016	0.0022	0.0004	0	0.0002	3.745e-05	0.0007	0.0001	0.0005	0.0004	0.0013	0.0013	0.0012	0.0013	0.0039	0.0011	0.0011	0.0035	0.0033	0.0039	0	0.0005	0	0	0	0.0068	0.0003	0.0005	0.0004	0.098	0.30800	T	0.243	0.24193	T	0.002	0.09854	B	0.001	0.04355	B	0.055911	0.22603	N	0.369472	1	0.08975	N	1.79	0.46772	L	1.61	0.28391	T	-0.25	0.11008	N	0.089	0.06720	-1.0536	0.13413	T	0.047	0.20077	T	10	0.011922091	0.00259	T	0.002336	0.04507	T	0.011	0.01250	.	.	0.198222871337	0.19423	0.05692208896787832	0.05633	1.38622255292	0.84890	0.471773892641	0.34924	T	0.124991	0.45040	T	-0.31987	0.06908	T	-0.697248	0.05978	T	0.00629619767349653	0.00070	T	0.313969	0.06176	T	0.07826603	0.17812	0.08931973	0.20880	0.07826603	0.17811	0.08931973	0.20879	-5.827	0.44809	T	.	.	0.116	0.23325	B	.	.	1.248130	0.16447	12.54	0.96437932161838147	0.29817	0.05376	0.11239	N	AEFBHCI	0.081371	0.16465	N	-1.00131367309578	0.08577	0.4026576	-1.0193531498141	0.09360	0.4652128	0.999992957680926	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.24	-1.38	0.08554	-0.274000	0.08569	.	.	-0.846000	0.02755	0.000000	0.06391	0.000000	0.08366	0.529000	0.29684	0.2356:0.3727:0.115:0.2767	0.904	0.01201	769	0.49307	Keratin type II head	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000514	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	575.43	36	chr12	52493083	.	C	T	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.84;DP=395;ExcessHet=0;FS=19.67;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.46;MQRankSum=-4.091;QD=7.67;ReadPosRankSum=0.053;SOR=2.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1108	9	0	1	0
chr12	52645089	52645157	CCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTT	-	exonic	KRT2	.	nonframeshift deletion	KRT2:NM_000423:exon9:c.1782_1850del:p.K595_G617del	Ichthyosis bullosa of Siemens, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0013	.	.	.	.	5.199e-05	5.267e-05	2.178e-05	8.25e-05	0.0008	4.258e-05	3.888e-05	0.0007	0.0006	0	2.237e-05	0	0	0	0	1.799e-06	4.967e-05	0.0008	1.315e-05	1.313e-05	0	2.693e-05	0.0004	2.19e-06	8.2e-07	7.324e-05	3.041e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1967.39	36	chr12	52645088	.	CCCACCTCCAGAGCCATATCCTCCTCCAGAGCTGGAGCCTCCTCTAGAGCCACCTCCAGAGCTGTGTTTT	C	1967.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.3;DP=584;ExcessHet=0;FS=5.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=-2.427;QD=8.44;ReadPosRankSum=-1.189;SOR=1.109	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1261	9	0	1	0
chr12	52678548	52678548	C	T	exonic	KRT1	.	nonsynonymous SNV	KRT1:NM_006121:exon2:c.G800A:p.R267Q	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis histrix, Curth-Macklin type, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant;Keratosis palmoplantaris striata III;Palmoplantar keratoderma, epidermolytic, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	77562	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.484	0.101284792308	.	.	3.295e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs60359468	5.746e-05	5.746e-05	4.9e-05	6.601e-05	0.0003	4.743e-05	4.366e-05	0.0002	0.0002	0	0	0	0	0	0	4.676e-05	8.279e-05	0.0003	3.942e-05	3.94e-05	5.138e-05	2.689e-05	0.0004	1.715e-05	1.129e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.011	0.64786	D	0.853	0.47048	P	0.676	0.53321	P	.	.	.	.	0.84725	0.28547	N	1.485	0.37223	L	-2.72	0.90622	D	-1.37	0.33998	N	0.316	0.35620	0.071	0.83644	D	0.679	0.88911	D	9	0.3519959	0.52037	T	0.101285	0.77408	D	0.484	0.77335	.	.	0.781901537916	0.77989	0.49656838215105376	0.49577	1.01211776729	0.74815	0.366228044033	0.20289	T	0.551187	0.84806	D	-0.136411	0.30462	T	-0.133397	0.60686	T	0.303215966516054	0.25136	T	0.820318	0.47908	T	0.38948074	0.59995	0.24495788	0.49973	0.38948074	0.59995	0.24495788	0.49972	-6.236	0.48213	T	0.30282468183683203	0.40029	0.597	0.68756	P	.	.	4.561161	0.71881	25.7	0.99920161856036571	0.98721	0.39010	0.26117	N	AEFBI	0.084117	0.17046	N	0.320297966270701	0.57190	3.885578	0.31228292057101	0.56261	3.789163	0.0124456700680525	0.12328	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.98	3.12	0.34986	3.449000	0.52713	.	.	0.599000	0.40250	0.987000	0.36337	0.000000	0.08366	0.989000	0.64315	0.0:0.6163:0.0:0.3837	6.312	0.20376	710	0.56735	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	977.43	36	chr12	52678548	.	C	T	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-1.254;SOR=0.727	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	9	0	1	0
chr12	52811817	52811817	C	T	exonic	KRT4	.	nonsynonymous SNV	KRT4:NM_002272:exon2:c.G623A:p.R208H	White sponge nevus 1, Autosomal dominant	0	1495	26	1	0	28	0.00927767	.	.	.	332069	White_sponge_nevus_1|KRT4-related_disorder	MONDO:MONDO:0008676,MedGen:C4011926,OMIM:193900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.368	0.0645811225036	0.0028	0.00159744	0.0042	0.0003	0.0003	0	0.0053	0.0056	0.0033	0.0053	0.0038421	594	154602	rs201795280	0.0032	0.0032	0.0031	0.0033	0.0066	0.0031	0.0031	0.0061	0.0059	0.0003	0.0003	0.0079	7.557e-05	0.0073	0.0030	0.0030	0.0025	0.0066	0.0023	0.0023	0.0024	0.0023	0.0062	0.0021	0.0020	0.0045	0.0039	0.0006	0	0.0003	0.0072	0	0.0040	0.0034	0.0033	0.0014	0.0062	0.028	0.46129	D	0.059	0.45961	T	.	.	.	.	.	.	0.000179	0.48594	D	0.000000	0.93052	0.36960	D	.	.	.	-2.69	0.90451	D	-3.9	0.72932	D	0.36	0.40164	0.549	0.91226	D	0.726	0.90622	D	10	0.011785328	0.00256	T	0.064581	0.69321	D	0.368	0.68757	.	.	0.862895951424	0.86156	0.2984767610901514	0.29760	0.493726229399	0.47964	0.311705082655	0.12165	T	.	.	.	-0.302529	0.08424	T	-0.204726	0.54198	T	0.0476230486575688	0.05076	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07130	B	.	.	4.071109	0.60485	24.2	0.99773593835873065	0.86088	0.15545	0.18964	N	AEFBI	0.187824	0.31511	N	0.0122974394415933	0.42413	2.555072	0.0205304543473444	0.40669	2.430855	0.996659378728061	0.34900	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.54	4.54	0.55220	1.165000	0.31432	.	.	0.599000	0.40250	0.004000	0.16614	1.000000	0.68203	0.977000	0.56843	0.0:0.9099:0.0:0.0901	12.385	0.54657	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.002717	0.002941	0.000000	0.000000	0.000000	0.003788	0.05	2081.43	38	chr12	52811817	.	C	T	2081.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.097;DP=480;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.724;SOR=0.882	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr12	52833950	52833950	G	A	exonic	KRT79	.	nonsynonymous SNV	KRT79:NM_175834:exon1:c.C311T:p.T104M	.	.	.	.	.	.	.	.	.	.	.	3269484	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0290554264228	0.0003	0.000199681	7.462e-05	0.0005	0	0	0	0	0.0034	6.113e-05	6.47e-05	10	154602	rs143471796	2.532e-05	2.531e-05	2.043e-05	3.027e-05	0.0002	1.868e-05	1.631e-05	9.751e-05	6.951e-05	0.0002	6.714e-05	0	2.52e-05	0	0	9.896e-06	0.0002	3.479e-05	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	9.711e-05	0.0003	0.0002	0.0004	0	0.0005	0	0	0	0	0	0.0005	0	0.159	0.23813	T	0.086	0.40909	T	0.004	0.12183	B	0.002	0.06944	B	0.031068	0.01730	N	2.368080	1	0.08975	N	0.28	0.10031	N	-0.97	0.75670	T	-1.17	0.29933	N	0.08	0.05542	-0.9945	0.31432	T	0.148	0.47469	T	10	0.013486743	0.00286	T	0.029055	0.51634	D	0.107	0.30369	.	.	0.139678290688	0.13603	0.7298150304947164	0.72926	0.111390099725	0.12571	0.289260238409	0.08814	T	0.004359	0.03768	T	-0.445715	0.01197	T	-0.548014	0.17515	T	0.0202784519642591	0.00728	T	0.122588	0.00952	T	0.02527455	0.01447	0.034065593	0.02407	0.02527455	0.01446	0.034065593	0.02407	-3.394	0.14976	T	.	.	0.086	0.10642	B	.	.	0.339762	0.07133	3.713	0.57337110938509928	0.05747	0.04224	0.09741	N	AEFDBI	0.087967	0.17834	N	-1.45080203735939	0.02210	0.09734253	-1.48082993525811	0.02501	0.1151624	0.0121781413924201	0.12289	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.28	-3.25	0.04765	-0.649000	0.05483	.	.	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.5168:0.1737:0.2076:0.1018	3.466	0.07118	569	0.70546	Keratin type II head	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1193.43	33	chr12	52833950	.	G	A	1193.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.386;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr12	53061154	53061154	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.G3278A:p.G1093E,TNS2:NM_170754:exon20:c.G3248A:p.G1083E,TNS2:NM_198316:exon20:c.G2876A:p.G959E	.	416	1100	6	0	0	6	0.00271985	.	.	.	796799	TNS2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.470	0.0795756466526	0.0005	0.000399361	0.0007	0.0001	8.673e-05	0	0	0.0011	0.0012	0.0006	0.0006533	101	154602	rs139881378	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	8.987e-05	0.0003	0.0085	0	1.893e-05	0.0014	0.0003	0.0013	0.0005	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	2.405e-05	0	0.0005	0.0092	0	0	0	0.0004	0.0005	0.0014	0.023	0.50132	D	0.076	0.49120	T	0.188	0.73220	B	0.135	0.63802	B	0.046646	0.23419	N	0.442226	0.790419	0.29232	N	.	.	.	-3.44	0.94469	D	-2.67	0.58407	D	0.663	0.67218	0.272	0.87102	D	0.833	0.94419	D	10	0.009141624	0.00207	T	0.079576	0.73267	D	0.470	0.76421	.	.	0.403609169532	0.39974	0.3024018777301248	0.30153	0.924845224075	0.71602	0.609047055244	0.54180	T	0.63581	0.88770	D	-0.0701058	0.41310	T	0.0279639	0.72146	D	0.0306202726066503	0.02086	T	0.910909	0.70392	D	0.2625106	0.49313	0.28004578	0.53977	0.2625106	0.49313	0.28004578	0.53976	-3.955	0.23248	T	.	.	0.131	0.41557	B	.;.;.;.;.;.	.;.;.;.;.;.	3.834872	0.55457	23.6	0.99597041628842786	0.73983	0.55988	0.30003	D	AEFDGBCI	0.428039	0.49173	N	0.0848129862562433	0.45754	2.826759	0.098532864531189	0.44475	2.728573	0.999999979874007	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	4.46	0.53567	3.850000	0.55627	11.442000	0.92771	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	12.816	0.57045	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	1335.43	36	chr12	53061154	.	G	A	1335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.406;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	9	0	1	0
chr12	53118915	53118915	G	A	exonic	SOAT2	.	nonsynonymous SNV	SOAT2:NM_003578:exon9:c.G889A:p.V297M	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.45778586049	.	.	0.0003	9.61e-05	8.637e-05	0	0	7.492e-05	0.0011	0.0019	0.0002523	39	154602	rs775199271	0.0002	0.0002	0.0001	0.0002	0.0029	0.0002	0.0002	0.0019	0.0018	2.987e-05	2.236e-05	0	0	0	0.0029	3.597e-05	0.0002	0.0022	7.883e-05	7.875e-05	7.712e-05	8.061e-05	0.0008	4.496e-05	3.511e-05	0.0003	0.0002	2.408e-05	0	0	0	0	0	0	0.0001	0	0.0008	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000023	0.55875	D	0.068206	1	0.81001	D	3.55	0.93268	H	-0.68	0.72568	T	-2.81	0.59389	D	0.813	0.80866	0.342	0.88213	D	0.598	0.85661	D	10	0.5856057	0.66093	D	0.457786	0.94458	D	0.690	0.88726	.	.	0.716011749808	0.71351	0.6813090266128822	0.68069	0.586344282559	0.54236	0.635893702507	0.57981	T	0.792009	0.94606	D	-0.078842	0.39902	T	0.0949581	0.76574	D	0.433242976665497	0.30180	T	0.971703	0.89738	D	0.894658	0.90911	0.82116365	0.89613	0.894658	0.90912	0.82116365	0.89614	-10.365	0.76068	D	.	.	0.684	0.72307	P	.	.	5.115967	0.85548	28.6	0.99892731384314359	0.96666	0.99262	0.93620	D	AEFDGBI	0.910411	0.86830	D	0.917976451252181	0.92612	11.52453	0.852807249859208	0.93178	11.87454	0.999999928839243	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.633917	0.49826	0	.	.	4.87	4.87	0.62877	8.848000	0.91806	11.684000	0.94262	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	17.308	0.87089	784	0.47045	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1330.43	36	chr12	53118915	.	G	A	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.283;DP=428;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.847;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	9	0	1	0
chr12	53185420	53185420	C	T	exonic	ZNF740	.	nonsynonymous SNV	ZNF740:NM_001004304:exon4:c.C193T:p.R65C	.	430	1057	34	1	0	36	0.0167442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0244779474361	0.0054	0.00159744	0.0052	0.0004	0.0034	0	0.0047	0.0070	0.0045	0.0050	0.0052134	806	154602	rs187594342	0.0068	0.0068	0.0068	0.0068	0.0092	0.0067	0.0067	0.0073	0.0073	0.0012	0.0027	0.0179	2.519e-05	0.0042	0.0092	0.0074	0.0073	0.0040	0.0044	0.0044	0.0044	0.0044	0.0065	0.0041	0.0040	0.0060	0.0058	0.0008	0.0011	0.0020	0.0225	0	0.0047	0.0034	0.0065	0.0071	0.0042	0.0	0.91255	D	0.002	0.79402	D	0.931	0.51899	P	0.061	0.26820	B	0.002536	0.36389	N	0.194783	0.999999	0.58761	D	1.87	0.49600	L	3.07	0.08547	T	-1.24	0.31375	N	0.584	0.60495	-0.8420	0.52513	T	0.008	0.02679	T	10	0.0073727965	0.00168	T	0.024478	0.47468	T	0.087	0.25287	.	.	0.171220215726	0.16700	0.3601703895602559	0.35931	1.08449223616	0.77234	0.688966810703	0.65558	T	0.046019	0.27299	T	-0.332407	0.05931	T	-0.243717	0.50435	T	0.0609010521928479	0.07310	T	0.838916	0.51225	T	0.23191017	0.45970	0.1342924	0.32183	0.23191017	0.45970	0.1342924	0.32182	-4.923	0.35993	T	.	.	0.218	0.44847	B	.	.	5.114336	0.85514	28.6	0.99923972068901667	0.98917	0.91169	0.52995	D	AEFBI	0.534972	0.55379	D	0.0597712260261759	0.44592	2.73052	0.157251626061201	0.47527	2.981637	0.999994350597713	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	3.96	0.45097	4.313000	0.58952	5.944000	0.51530	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9094:0.0:0.0906	10.685	0.45033	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009073	0.005051	0.004076	0.000000	0.050000	0.008621	0.018293	0.026515	0.05	694.43	33	chr12	53185420	.	C	T	694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.42;DP=360;ExcessHet=0;FS=4.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=1.43;SOR=1.386	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,929	9	0	1	0
chr12	53253853	53253853	C	T	exonic	MFSD5	.	nonsynonymous SNV	MFSD5:NM_001170790:exon2:c.C1339T:p.P447S,MFSD5:NM_032889:exon2:c.C1018T:p.P340S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.537	0.100853124585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.91255	T	0.023	0.57104	D	0.996	0.68779	D	0.934	0.66904	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.725	0.79712	M	-1.49	0.81235	T	-2.47	0.53898	N	0.786	0.79118	0.012	0.82506	D	0.547	0.83379	D	9	0.7330787	0.74432	D	0.100853	0.77340	D	0.537	0.80605	0.316	0.29258	0.876070740105	0.87485	0.7110397811308901	0.71045	0.865682130374	0.69194	0.652387201786	0.60324	T	0.06749	0.33214	T	0.267449	0.80211	D	0.146395	0.79957	D	0.984932482242584	0.76082	D	0.883312	0.60567	D	0.42637163	0.62513	0.46505147	0.68954	0.42637163	0.62514	0.46505147	0.68954	-2.977	0.09935	T	.	.	0.367	0.57652	A	.;.	.;.	3.781426	0.54376	23.5	0.99830034959998637	0.91198	0.98185	0.80341	D	AEFBI	0.902442	0.85034	D	0.599469188320634	0.73143	5.917989	0.616116337095668	0.76111	6.431006	0.999999999999987	0.74766	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	7.476000	0.80054	7.609000	0.61840	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.987	0.86215	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2137.43	38	chr12	53253853	.	C	T	2137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.358;DP=478;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=0.615;SOR=0.798	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1173	9	0	1	0
chr12	53286190	53286190	G	A	exonic	ESPL1	.	nonsynonymous SNV	ESPL1:NM_012291:exon18:c.G3454A:p.A1152T	.	425	1096	1	0	0	1	0.000455996	.	.	.	3442207	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.00368686540011	0.0004	.	0.0001	0.0012	8.639e-05	0	0	1.499e-05	0	6.056e-05	0.0001035	16	154602	rs143545932	2.599e-05	2.599e-05	2.995e-05	2.2e-05	0.0005	1.932e-05	1.692e-05	0.0003	0.0003	0.0005	4.472e-05	0	0	0	0	1.079e-05	1.656e-05	6.956e-05	0.0003	0.0003	0.0004	0.0002	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	0	0	0	0	0	0	0.0010	0	0.394	0.10694	T	0.233	0.24913	T	0.106	0.26037	B	0.011	0.15521	B	0.000019	0.62929	D	0.156649	0.528864	0.31507	N	1.9	0.50570	L	2.85	0.10578	T	-0.53	0.16393	N	0.204	0.22614	-1.0923	0.05159	T	0.024	0.10194	T	10	0.026243567	0.00796	T	0.003687	0.08527	T	0.104	0.29647	.	.	0.347532887357	0.34364	0.3043697034707937	0.30349	0.2339395931	0.25932	0.347312778234	0.17526	T	0.041248	0.25794	T	-0.538132	0.00344	T	-0.581144	0.14443	T	0.0116866935263651	0.00179	T	0.675332	0.28377	T	0.0419479	0.06271	0.06509614	0.13143	0.0419479	0.06271	0.06509614	0.13143	-2.945	0.09600	T	.	.	0.077	0.06433	B	.;.	.;.	2.538451	0.32831	19.16	0.9915677097106762	0.53987	0.73989	0.36190	D	AEFDGBI	0.108228	0.21537	N	-0.033331045331321	0.40349	2.394741	0.133579794036682	0.46276	2.876351	0.999983237896695	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.65	4.69	0.58546	1.370000	0.33843	5.011000	0.46670	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.1027:0.0:0.8973:0.0	8.617	0.33002	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3334.43	219	chr12	53286190	.	G	A	3334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.062;DP=538;ExcessHet=0;FS=1.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.56;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1086	9	0	1	0
chr12	53299799	53299799	C	T	exonic	MYG1	.	nonsynonymous SNV	MYG1:NM_021640:exon1:c.C62T:p.T21I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00763810955466	0.0004	0.00199681	0.0014	0.0004	0.0002	0	0	0.0003	0	0.0085	0.001216	188	154602	rs138986768	0.0006	0.0006	0.0004	0.0009	0.0072	0.0006	0.0006	0.0068	0.0066	0.0007	0.0004	0	0	1.873e-05	0.0035	0.0002	0.0010	0.0072	0.0005	0.0005	0.0003	0.0006	0.0070	0.0004	0.0003	0.0052	0.0045	0.0005	0	0	0	0	0	0	0.0002	0.0005	0.0070	0.021	0.49117	D	0.022	0.57587	D	0.0	0.02946	B	0.0	0.01387	B	0.060189	0.02130	N	1.921390	1	0.19599	N	0.345	0.11182	N	1.0	0.41392	T	-0.42	0.14193	N	0.13	0.12484	-1.0250	0.22083	T	0.058	0.24317	T	10	0.003104955	0.00052	T	0.007638	0.20272	T	0.012	0.01476	.	.	0.0551355673512	0.04727	0.3777003793617032	0.37685	0.161219827377	0.18198	.	.	.	0.074533	0.34960	T	-0.635653	0.00088	T	-0.680439	0.06957	T	0.002566478180763	0.00027	T	0.458254	0.13193	T	0.050026316	0.08975	0.06833154	0.14257	0.050026316	0.08974	0.06833154	0.14257	-4.501	0.30902	T	.	.	0.115	0.22861	B	.	.	0.440373	0.08107	4.834	0.92249702680281398	0.21629	0.02084	0.06195	N	ALL	0.141607	0.26383	N	-1.32281383607669	0.03415	0.1525198	-1.34068077621244	0.03916	0.1836955	0.999999999999691	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.51	-1.21	0.09033	-0.091000	0.11111	-0.278000	0.10292	-0.256000	0.07045	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4484:0.2802:0.2714	5.448	0.15843	703	0.57489	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1869.43	40	chr12	53299799	.	C	T	1869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.355;DP=526;ExcessHet=0;FS=2.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.302;SOR=0.96	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr12	53482893	53482893	C	T	exonic	MAP3K12	.	nonsynonymous SNV	MAP3K12:NM_001193511:exon11:c.G1910A:p.R637H,MAP3K12:NM_006301:exon12:c.G1811A:p.R604H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.0755278311656	.	.	1.707e-05	0	8.715e-05	0	0	1.557e-05	0	0	1.29e-05	2	154602	rs754240127	3.426e-06	6.156e-06	1.364e-06	5.509e-06	2.24e-05	1e-06	7.3e-07	7.2e-07	2e-07	0	2.24e-05	0	0	0	0	2.698e-06	1.657e-05	0	1.314e-05	1.313e-05	2.568e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.045	0.51421	D	0.968	0.56581	D	0.375	0.43710	B	0.082143	0.20825	N	0.352402	0.791023	0.29225	N	0.55	0.14455	N	-1.31	0.79761	T	-0.94	0.25118	N	0.193	0.33030	-0.2973	0.75060	T	0.401	0.75195	T	10	0.22718132	0.39592	T	0.075528	0.72311	D	0.335	0.65718	0.389	0.41115	0.647400199072	0.64447	0.24915830748808537	0.24829	0.197406258411	0.22118	0.798055708408	0.81666	T	0.143659	0.47989	T	0.0350782	0.56398	T	-0.187389	0.55835	T	0.489424108578844	0.32243	T	0.931207	0.74412	D	0.17482552	0.38308	0.11204455	0.27031	0.17482552	0.38307	0.11204455	0.27030	-5.032	0.37186	T	.	.	0.257	0.49216	B	.;.;.	.;.;.	4.545639	0.71494	25.7	0.99869000462700153	0.94726	0.81610	0.40979	D	AEFDBHCI	0.238646	0.36074	N	0.210241116059741	0.51696	3.348751	0.230387112179851	0.51543	3.335797	0.999996282963429	0.74766	0.645754	0.44609	0	0.577304	0.33150	0	0.696144	0.63334	0	0.636168	0.56350	0	.	.	3.99	3.99	0.45527	2.220000	0.42549	5.927000	0.51257	0.549000	0.26987	0.876000	0.30908	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	14.021	0.64071	591	0.68823	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	947.43	39	chr12	53482893	.	C	T	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.213;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.553;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1220	9	0	1	0
chr12	53973795	53973795	C	A	exonic	HOXC11	.	nonsynonymous SNV	HOXC11:NM_014212:exon1:c.C554A:p.P185Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.20393996204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.943e-07	6.841e-07	1.379e-06	0	3.081e-05	0	0	.	.	3.081e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.29688	T	0.115	0.36630	T	0.001	0.07471	B	0.001	0.04355	B	0.000511	0.43753	D	0.197709	0.891747	0.35968	D	0	0.06538	N	-2.95	0.91903	D	-1.67	0.42001	N	0.114	0.35194	-0.1376	0.79224	T	0.491	0.80673	T	10	0.17142197	0.31859	T	0.20394	0.86903	D	0.074	0.21613	0.325	0.30711	0.912192421923	0.91131	0.46548259915495976	0.46467	.	.	0.780344367027	0.78979	T	0.036082	0.30084	T	-0.00928102	0.50366	T	-0.251108	0.49707	T	0.402309520924846	0.29029	T	0.556144	0.20452	T	0.10628061	0.25129	0.20598917	0.44792	0.10628061	0.25129	0.20598917	0.44791	-5.209	0.39033	T	.	.	0.072	0.10159	B	.;.	.;.	2.905113	0.38521	20.8	0.92200239905065018	0.21570	0.70686	0.34694	D	ALL	0.174200	0.30132	N	-0.263367602100421	0.30573	1.706008	-0.0766032370036616	0.36361	2.115014	0.9999999999998	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.21	3.24	0.36257	4.049000	0.57110	2.596000	0.33495	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.2366:0.7634:0.0:0.0	11.385	0.49019	211	0.91797	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2491.14	38	chr12	53973795	.	C	A	2491.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=531;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.545;SOR=0.678	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1133	8	0	2	0
chr12	54362728	54362728	C	T	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.G1124A:p.R375H	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.00698882	0.0032	9.656e-05	0	0	0	4.51e-05	0.0022	0.0232	0.0027813	430	154602	rs546291952	0.0013	0.0013	0.0008	0.0018	0.0207	0.0013	0.0012	0.0199	0.0195	0.0002	0.0001	0	7.557e-05	0	0.0002	1.709e-05	0.0014	0.0207	0.0007	0.0007	0.0004	0.0010	0.0206	0.0006	0.0005	0.0173	0.0161	7.225e-05	0	6.535e-05	0	0	0	0	1.47e-05	0.0005	0.0206	0.011	0.55530	D	0.0	0.92824	D	0.994	0.66517	D	0.549	0.49194	P	0.000001	0.84330	D	0.000000	0.999971	0.53665	D	2.525	0.73725	M	1.07	0.39586	T	-2.63	0.56466	D	0.586	0.60664	-0.8252	0.53607	T	0.158	0.49060	T	10	0.007068306	0.00161	T	.	.	.	0.165	0.42395	.	.	0.727144606814	0.72472	0.23873231238005257	0.23787	0.547746689658	0.51749	0.483340024948	0.36517	T	0.071059	0.34115	T	-0.370671	0.03560	T	-0.2883	0.45949	T	0.127543403285741	0.15153	T	0.905809	0.66782	D	0.27857906	0.50911	0.20067123	0.44010	0.27857906	0.50911	0.20067123	0.44009	-6.123	0.47297	T	.	.	0.113	0.22391	B	.;.	.;.	4.498825	0.70345	25.5	0.9993782169429859	0.99698	0.94710	0.62064	D	AEFBI	0.765776	0.70215	D	0.524791671061753	0.68560	5.234054	0.517783104531319	0.69186	5.324767	0.999999999297729	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.43	4.54	0.55220	5.374000	0.65920	1.766000	0.28593	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9163:0.0:0.0837	12.151	0.53356	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	504.43	33	chr12	54362728	.	C	T	504.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.551;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.672;SOR=0.674	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1149	9	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	678.61	78	chr12	54363394	.	G	A	678.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.666;DP=970;ExcessHet=2.8389;FS=217.393;InbreedingCoeff=-0.4287;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.14;SOR=9.401	GT:AD:DP:GQ:PL	0/0:84,0:84:28:0,28,1820	3	0	5	2
chr12	54962733	54962733	G	A	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.C538T:p.P180S,TESPA1:NM_001351148:exon7:c.C751T:p.P251S,TESPA1:NM_001351151:exon7:c.C406T:p.P136S,TESPA1:NM_001351152:exon7:c.C406T:p.P136S,TESPA1:NM_001351153:exon7:c.C406T:p.P136S,TESPA1:NM_001351154:exon7:c.C406T:p.P136S,TESPA1:NM_001351155:exon7:c.C406T:p.P136S,TESPA1:NM_014796:exon7:c.C751T:p.P251S,TESPA1:NM_001261844:exon8:c.C751T:p.P251S,TESPA1:NM_001098815:exon9:c.C1165T:p.P389S,TESPA1:NM_001136030:exon9:c.C1165T:p.P389S,TESPA1:NM_001351149:exon10:c.C1165T:p.P389S	.	435	1023	60	4	0	68	0.0321665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.00479233	0.0060	0.0008	0.0034	0.0001	0.0006	0.0064	0.0056	0.0143	0.0054204	838	154602	rs79969168	0.0050	0.0050	0.0047	0.0054	0.0206	0.0049	0.0049	0.0176	0.0165	0.0005	0.0056	0.0219	5.038e-05	0.0005	0.0206	0.0043	0.0062	0.0139	0.0041	0.0041	0.0040	0.0042	0.0130	0.0038	0.0037	0.0105	0.0095	0.0008	0	0.0088	0.0205	0.0002	0.0002	0.0514	0.0042	0.0076	0.0130	0.108	0.29420	T	0.115	0.39040	T	0.009	0.15093	B	0.007	0.12992	B	0.884550	0.08731	N	0.941133	1	0.08975	N	1.3	0.32576	L	1.01	0.41058	T	-0.43	0.14390	N	0.089	0.08786	-1.0110	0.26604	T	0.047	0.20195	T	10	0.005149156	0.00112	T	.	.	.	0.057	0.16321	.	.	0.134241683229	0.13084	0.11741497963002354	0.11669	0.156741707563	0.17697	0.22092320025	0.01364	T	0.00258	0.01974	T	-0.646041	0.00077	T	-0.689738	0.06404	T	0.00151438580155197	0.00015	T	0.512349	0.16405	T	0.017450266	0.00273	0.025835352	0.00643	0.017450266	0.00273	0.025835352	0.00643	-3.329	0.14113	T	.	.	0.081	0.11893	B	.;.;.;.;.	.;.;.;.;.	-0.185425	0.03167	0.516	0.71880267870492953	0.09780	0.02568	0.07109	N	AEFBI	0.073802	0.14774	N	-0.917725297604605	0.10427	0.498243	-0.956001895449828	0.10783	0.5453844	0.126746297919489	0.17006	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.37	1.32	0.20897	-0.500000	0.06487	0.844000	0.22071	0.676000	0.76740	0.000000	0.06391	0.031000	0.21272	0.012000	0.09680	0.2879:0.0:0.4565:0.2556	2.444	0.04227	783	0.47268	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.005051	0.016304	0.011696	0.000000	0.017241	0.027439	0.026515	0.15	5184.45	33	chr12	54962733	.	G	A	5184.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.22;DP=678;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.515;SOR=0.658	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,104,1163	7	0	3	0
chr12	55321260	55321260	A	G	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A661G:p.R221G	.	427	1092	3	0	0	3	0.00137174	.	.	.	3459393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00421011793466	0.0002	.	4.124e-05	0	8.669e-05	0	0	6.002e-05	0	0	3.23e-05	5	154602	rs374079293	3.695e-05	3.694e-05	4.357e-05	3.026e-05	0.0012	2.894e-05	2.593e-05	0.0006	0.0004	0	0.0001	0	0	0	0.0012	3.418e-05	3.312e-05	2.319e-05	2.627e-05	2.626e-05	1.284e-05	4.034e-05	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.034	0.44029	D	0.259	0.23097	T	0.003	0.11197	B	0.022	0.19653	B	0.185457	0.16989	N	0.564641	1	0.08975	N	1.29	0.32370	L	1.05	0.39990	T	-4.78	0.80510	D	0.31	0.34981	-0.9890	0.32853	T	0.097	0.36419	T	10	0.14028755	0.26667	T	0.00421	0.10153	T	0.094	0.27141	.	.	0.461495907335	0.45776	0.21798955400934994	0.21714	0.0149649370489	0.01426	0.173017024994	0.00045	T	0.014584	0.12389	T	-0.311695	0.07600	T	-0.459803	0.26620	T	0.0623342916369438	0.07531	T	0.543646	0.18539	T	0.25584608	0.48620	0.28520092	0.54521	0.25584608	0.48620	0.28520092	0.54520	-7.456	0.57300	T	.	.	0.110	0.21049	B	.;.	.;.	2.126375	0.27065	17.34	0.94044948794763372	0.24169	0.17840	0.20010	N	AEFBI	0.124689	0.24085	N	-0.755359723132479	0.14488	0.7221132	-0.812954567657659	0.14182	0.7396973	3.04060220443067E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.62	2.1	0.26226	0.125000	0.15577	.	.	0.728000	0.85494	0.000000	0.06391	0.000000	0.08366	0.240000	0.23001	0.442:0.1436:0.0:0.4144	5.746	0.17388	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	2472.43	161	chr12	55321260	.	A	G	2472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.965;DP=1541;ExcessHet=0;FS=2.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-1.013;SOR=0.923	GT:AD:DP:GQ:PL	0/0:135,0:135:99:0,120,1800	9	0	1	0
chr12	55321270	55321270	T	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.T671C:p.L224S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0011256731824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.411	0.35101	B	0.483	0.47159	P	0.006444	0.32025	N	0.141490	1	0.08975	N	3.08	0.87267	M	8.15	0.00286	T	-5.55	0.86222	D	0.576	0.59816	-1.1202	0.02319	T	0.002	0.00615	T	10	0.25606167	0.43006	T	0.001126	0.01360	T	0.104	0.29647	0.615	0.74884	0.364141725642	0.36032	0.0926368537174343	0.09195	0.0274412082615	0.02802	0.192546278238	0.00273	T	0.009952	0.09021	T	-0.100664	0.36314	T	-0.382374	0.35444	T	0.948995292186737	0.63016	D	0.740526	0.35940	T	0.5920324	0.72261	0.5857374	0.75976	0.5920324	0.72262	0.5857374	0.75977	-11.515	0.82409	D	.	.	0.242	0.47611	B	.;.	.;.	3.225384	0.43964	21.8	0.99164172853796217	0.54184	0.26845	0.23110	N	AEFBI	0.107231	0.21371	N	-0.0630198612127827	0.39022	2.294674	-0.178827732516569	0.32317	1.837351	0.0100258226496653	0.11953	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	2.122000	0.41610	.	.	0.641000	0.52212	0.018000	0.19461	0.913000	0.28170	0.930000	0.46718	0.0:0.0:0.0:1.0	13.843	0.62947	862	0.33134	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2583.43	161	chr12	55321270	.	T	C	2583.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.691;DP=1549;ExcessHet=0;FS=1.777;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.577;SOR=0.79	GT:AD:DP:GQ:PL	0/0:144,0:144:99:0,120,1800	9	0	1	0
chr12	55426420	55426420	C	G	exonic	OR6C76	.	nonsynonymous SNV	OR6C76:NM_001005183:exon1:c.C167G:p.P56R	.	434	1082	6	0	0	6	0.00276498	.	.	.	2735439	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0132700389094	.	.	0.0001	9.615e-05	0	0	0	0.0002	0	0.0001	0.00011	17	154602	rs778131455	7.526e-05	7.524e-05	5.582e-05	9.49e-05	0.0035	6.383e-05	5.939e-05	0.0023	0.0019	0.0001	0	0	0	1.873e-05	0.0035	5.576e-05	0.0002	0.0001	1.314e-05	1.312e-05	2.571e-05	0	1.471e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.968	0.71741	D	0.000692	0.42383	U	0.000000	0.952997	0.37810	D	3.965	0.96539	H	4.49	0.02049	T	-8.03	0.96581	D	0.728	0.72925	-0.7422	0.58339	T	0.064	0.26349	T	10	0.80940235	0.80241	D	0.01327	0.32542	T	0.196	0.47777	.	.	0.204665344411	0.20097	0.40013164558105546	0.39928	0.265818566732	0.29134	0.222269922495	0.01445	T	0.013642	0.11764	T	-0.246786	0.14496	T	-0.300119	0.44712	T	0.967052042484283	0.67783	D	0.850515	0.53399	D	0.8880923	0.90344	0.8630441	0.92388	0.8880923	0.90346	0.8630441	0.92388	-10.876	0.78973	D	.	.	0.191	0.40952	B	.	.	2.739929	0.35886	20.1	0.99795603440528824	0.88106	0.97970	0.78525	D	AEFI	0.510336	0.53943	D	0.855644782669748	0.89428	9.967367	0.68748287372722	0.81429	7.524262	0.341869315816874	0.19592	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.35	4.35	0.51454	5.481000	0.66549	.	.	0.520000	0.23804	0.984000	0.35821	0.138000	0.23065	0.855000	0.40485	0.0:1.0:0.0:0.0	17.015	0.86290	707	0.57054	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.1	3553.14	42	chr12	55426420	.	C	G	3553.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.92;DP=685;ExcessHet=0.2348;FS=4.751;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.971;SOR=0.737	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	8	0	2	0
chr12	55452382	55452382	A	G	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.A169G:p.M57V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.00465465340174	.	.	4.953e-05	0	0	0	0	9.005e-05	0	0	3.88e-05	6	154602	rs748497507	5.064e-05	5.062e-05	4.221e-05	5.915e-05	0.0003	4.126e-05	3.779e-05	6.096e-05	4.424e-05	0	0	0	0	0	0.0003	6.026e-05	4.968e-05	2.319e-05	6.574e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.003	0.68238	D	0.009	0.66756	D	0.977	0.58535	D	0.788	0.57636	P	0.000001	0.84330	D	0.000000	0.99437	0.42258	D	3.005	0.85968	M	2.99	0.09262	T	-3.56	0.68880	D	0.233	0.26233	-0.8847	0.49382	T	0.097	0.36341	T	10	0.4704162	0.59827	T	0.004655	0.11534	T	0.246	0.55340	0.358	0.36060	0.471127988307	0.46741	0.16065532552205372	0.15986	0.00556021742616	0.00487	0.203853800893	0.00577	T	0.044627	0.26872	T	-0.13893	0.30062	T	-0.222005	0.52543	T	0.655296385288239	0.38690	D	0.866813	0.56740	D	0.86881244	0.88768	0.8244896	0.89827	0.86881244	0.88769	0.8244896	0.89828	-12.115	0.85407	D	.	.	0.184	0.40952	B	.;.;.	.;.;.	2.585742	0.33535	19.37	0.98253280843908375	0.39594	0.98957	0.89158	D	AEFI	0.673474	0.63952	D	0.640453636572033	0.75753	6.361868	0.540489226416183	0.70739	5.549548	0.996813644828781	0.35031	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.941000	0.69909	.	.	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.010000	0.09038	1.0:0.0:0.0:0.0	14.421	0.66755	783	0.47268	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1387.43	33	chr12	55452382	.	A	G	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.752;SOR=0.71	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1399,0,1492	9	0	1	0
chr12	55492412	55492412	T	C	exonic	OR6C68	.	nonsynonymous SNV	OR6C68:NM_001005519:exon1:c.T35C:p.L12P	.	429	1063	28	2	0	32	0.0148285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	.	0.0022	0.00339457	0.0025	0.0002	0.0024	0	0.0032	0.0031	0.0033	0.0027	0.0024515	379	154602	rs117985155	0.0026	0.0026	0.0026	0.0027	0.0136	0.0025	0.0025	0.0111	0.0103	0.0004	0.0023	3.836e-05	0	0.0024	0.0136	0.0028	0.0030	0.0021	0.0024	0.0024	0.0023	0.0024	0.0039	0.0022	0.0021	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0046	0.0068	0.0032	0.0052	0.0014	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.071944	0.21440	N	0.188860	0.991601	0.24010	N	3.865	0.95877	H	6.57	0.00522	T	-6.21	0.90411	D	0.789	0.78546	-1.0266	0.21560	T	0.010	0.03673	T	10	0.025379002	0.00734	T	.	.	.	0.203	0.48915	.	.	0.177238962908	0.17366	0.38092511495990716	0.38007	0.0215845920009	0.02143	0.269143164158	0.06029	T	0.051137	0.28794	T	-0.20296	0.20379	T	-0.0648343	0.65993	T	0.118353866398319	0.14268	T	0.852615	0.53799	D	0.8558097	0.87768	0.7081278	0.82788	0.8558097	0.87769	0.7081278	0.82789	-12.4	0.86745	D	.	.	0.215	0.44371	B	.	.	3.080598	0.41440	21.4	0.99791937209125881	0.87750	0.80020	0.39772	D	AEFI	0.543391	0.55874	D	0.576986557413594	0.71740	5.697058	0.34508044901819	0.58213	3.990421	0.900635547758469	0.26081	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	6.322000	0.72847	.	.	0.650000	0.52971	0.772000	0.29380	0.366000	0.24545	0.004000	0.06068	0.0:0.0:0.0:1.0	14.430	0.66817	747	0.52260	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.020380	0.008772	0.000000	0.017241	0.006098	0.000000	0.05	1099.43	33	chr12	55492412	.	T	C	1099.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.471;DP=410;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.686;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	9	0	1	0
chr12	55574598	55574598	C	T	exonic	OR2AP1	.	nonsynonymous SNV	OR2AP1:NM_001258285:exon1:c.C184T:p.R62W	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00187121934396	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs779875070	2.881e-05	2.805e-05	2.845e-05	2.918e-05	0.0002	2.171e-05	1.912e-05	2.512e-05	1.71e-05	9.483e-05	0	0	5.583e-05	0	0.0002	2.777e-05	5.155e-05	1.26e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.037	0.43085	D	0.076	0.42614	T	.	.	.	.	.	.	0.042817	0.23804	N	0.299392	1	0.08975	N	1.965	0.53209	M	6.59	0.00519	T	-5.77	0.87911	D	0.105	0.08925	-0.8988	0.48115	T	0.002	0.00615	T	7	0.15620545	0.29424	T	0.001871	0.03272	T	0.052	0.14661	.	.	0.292787519742	0.28880	0.3527231793749124	0.35186	0.00101187139481	0.00087	0.153360813856	0.00006	T	0.022013	0.17042	T	-0.218546	0.18190	T	-0.551702	0.17163	T	0.509299459563394	0.32971	D	0.529047	0.17505	T	0.19136247	0.40760	0.23078425	0.48191	0.19136247	0.40760	0.23078425	0.48190	-10.002	0.73925	D	.	.	0.151	0.35435	B	.;.	.;.	1.438638	0.18577	13.81	0.98292035149785728	0.39954	0.01530	0.05038	N	AEFGI	0.124944	0.24123	N	-0.481833591890558	0.22676	1.212503	-0.552300869917418	0.20745	1.11908	7.79066715737094E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.86	-0.792	0.10374	-2.392000	0.01134	.	.	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.3196:0.4492:0.0:0.2312	4.845	0.12869	685	0.59416	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2116.43	34	chr12	55574598	.	C	T	2116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=478;ExcessHet=0;FS=1.252;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.157;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	9	0	1	0
chr12	55681815	55681815	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C61T:p.L21F	.	431	1064	25	2	0	29	0.0134446	.	.	.	702406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0042	0.000998403	0.0073	0.0010	0.0042	0	0.0012	0.0136	0.0150	0.0034	0.0027037	418	154602	rs199581976	0.0036	0.0036	0.0035	0.0037	0.0193	0.0035	0.0035	0.0164	0.0153	0.0011	0.0027	0.0266	0	0.0007	0.0193	0.0033	0.0054	0.0027	0.0034	0.0034	0.0036	0.0032	0.0041	0.0032	0.0031	0.0037	0.0036	0.0008	0.0088	0.0031	0.0282	0	0.0006	0.0204	0.0041	0.0109	0.0029	0.005	0.63226	D	0.025	0.60337	D	0.008	0.14655	B	0.012	0.16012	B	0.033067	0.24945	U	0.331836	0.99201	0.41532	D	2.94	0.84723	M	1.8	0.25344	T	-2.9	0.60827	D	0.4	0.44090	-1.0594	0.11905	T	0.046	0.19680	T	10	0.0033551455	0.00058	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.8861837634931694	0.88587	0.0410168488921	0.04401	0.481642216444	0.36283	T	0.035111	0.24699	T	-0.575825	0.00204	T	-0.598818	0.12910	T	0.0420220997220355	0.04059	T	0.50025	0.15636	T	0.24753305	0.47732	0.29166937	0.55192	0.24753305	0.47732	0.29166937	0.55191	-5.103	0.37939	T	.	.	0.104	0.24733	B	.;.	.;.	2.197060	0.28021	17.66	0.99204784752352737	0.55381	0.48273	0.28170	N	ALL	0.875120	0.79836	D	-0.54545360957274	0.20627	1.08873	-0.562489992760993	0.20475	1.103277	0.999999999986705	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	4.75	2.93	0.33092	-0.894000	0.04230	.	.	0.549000	0.26987	0.000000	0.06391	0.759000	0.26609	0.674000	0.33367	0.1728:0.5688:0.1673:0.0911	3.582	0.07507	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019467	0.025253	0.017956	0.017857	0.000000	0.054545	0.015528	0.007692	0.05	1453.43	101	chr12	55681815	.	C	T	1453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=411;ExcessHet=0;FS=1.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=-2.308;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1090	9	0	1	0
chr12	55683907	55683907	T	C	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon2:c.T593C:p.I198T	.	428	1090	4	0	0	4	0.0018315	.	.	.	3343630	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.00815921010394	7.7e-05	.	0.0003	0	0.0006	0	0	0.0002	0.0011	0.0013	0.0002781	43	154602	rs369422527	0.0002	0.0002	0.0002	0.0003	0.0051	0.0002	0.0002	0.0036	0.0031	8.961e-05	0.0006	0	0	0	0.0051	9.263e-05	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	9.629e-05	0	0.0003	0	0	0	0	0.0002	0.0009	0.0015	0.018	0.50676	D	0.024	0.64786	D	0.565	0.38434	P	0.201	0.36881	B	0.080654	0.20912	N	0.499382	0.903816	0.36236	D	1.77	0.45869	L	2.03	0.20959	T	-2.32	0.51478	N	0.374	0.41557	-1.0680	0.09858	T	0.046	0.19879	T	10	0.024705857	0.00689	T	0.008159	0.21623	T	0.188	0.46444	.	.	0.043077524339	0.03247	0.15234584201379014	0.15156	0.0495549813721	0.05433	0.492167234421	0.37740	T	0.087619	0.37982	T	-0.418799	0.01741	T	-0.393367	0.34157	T	0.084445006545753	0.10545	T	0.833317	0.50212	T	0.0833133	0.19234	0.08952104	0.20937	0.0833133	0.19234	0.08952104	0.20937	-6.948	0.53654	T	.	.	0.211	0.51532	B	.;.	.;.	3.150840	0.42657	21.6	0.93795338957903918	0.23762	0.97111	0.72754	D	AEFBI	0.939063	0.93915	D	-0.26560889023581	0.30485	1.700275	-0.279017255950245	0.28790	1.607979	0.996201076390436	0.34592	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.542086	0.14980	0	.	.	4.01	2.84	0.32241	6.774000	0.74807	.	.	-0.147000	0.12262	0.889000	0.31176	0.764000	0.26647	0.618000	0.31844	0.0:0.0:0.1914:0.8086	8.765	0.33859	742	0.52873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.004076	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	1001.43	34	chr12	55683907	.	T	C	1001.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.167;DP=415;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.687;SOR=0.913	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	9	0	1	0
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.05	1031.43	87	chr12	55693209	.	C	T	1031.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=409;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.123;SOR=0.954	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr12	56165330	56165330	G	C	exonic	SMARCC2	.	nonsynonymous SNV	SMARCC2:NM_003075:exon26:c.C3127G:p.P1043A,SMARCC2:NM_001130420:exon27:c.C3220G:p.P1074A,SMARCC2:NM_001330288:exon27:c.C3220G:p.P1074A,SMARCC2:NM_139067:exon27:c.C3220G:p.P1074A	.	425	1086	11	0	0	11	0.00503894	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	.	0.00319489	0.0018	0.0002	0.0003	0	0	0.0002	0	0.0186	0.0014748	228	154602	rs144685761	0.0010	0.0010	0.0007	0.0014	0.0161	0.0010	0.0009	0.0153	0.0150	0.0003	0.0002	0	0.0005	2.072e-05	0.0003	0.0002	0.0009	0.0161	0.0005	0.0005	0.0003	0.0008	0.0131	0.0004	0.0004	0.0105	0.0095	0.0002	0	0	0	0.0004	9.416e-05	0	7.35e-05	0	0.0131	0.203	0.53172	T	0.206	0.27056	T	0.007	0.14184	B	0.005	0.11217	B	0.000021	0.55875	D	0.000000	0.749633	0.33914	D	0.55	0.14455	N	0.44	0.56609	T	-0.47	0.20791	N	0.364	0.40565	-1.0001	0.29888	T	0.074	0.29865	T	10	0.0052150786	0.00113	T	.	.	.	0.079	0.23065	0.309	0.28128	0.265735104816	0.26182	0.11932536638594597	0.11859	0.145909194508	0.16476	0.583046913147	0.50515	T	0.013	0.29183	T	-0.436521	0.01356	T	-0.384872	0.35151	T	0.0143713824052965	0.00288	T	0.786321	0.46599	T	0.079103865	0.18053	0.091889955	0.21627	0.0779598	0.17726	0.08553201	0.19755	-4.005	0.27470	T	.	.	0.046	0.00066	B	.;.;.;.	.;.;.;.	2.276269	0.29103	18.01	0.96232696952722963	0.29122	0.58369	0.30623	D	AEFDBHCI	0.189661	0.31691	N	-0.32598418277954	0.28165	1.551212	-0.120667572749718	0.34558	1.989196	0.999989625878895	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.49	3.53	0.39533	0.701000	0.25293	7.151000	0.57677	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7741:0.2259	11.932	0.52137	250	0.90192	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001532	0.000000	0.000000	0.005952	0.000000	0.000000	0.000000	0.003817	0.05	637.43	35	chr12	56165330	.	G	C	637.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.934;DP=391;ExcessHet=0;FS=1.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-2.26;SOR=0.459	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	9	0	1	0
chr12	56433425	56433425	C	A	exonic	TIMELESS	.	nonsynonymous SNV	TIMELESS:NM_001330295:exon5:c.G385T:p.A129S,TIMELESS:NM_003920:exon5:c.G385T:p.A129S	.	430	1051	41	0	0	41	0.0191321	.	.	.	738762	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0046	0.00638978	0.0079	0.0009	0.0024	0	0.0086	0.0065	0.0066	0.0255	0.0075937	1174	154602	rs72478986	0.0069	0.0069	0.0061	0.0076	0.0258	0.0068	0.0067	0.0249	0.0245	0.0005	0.0034	0.0054	2.519e-05	0.0086	0.0154	0.0059	0.0065	0.0258	0.0057	0.0057	0.0054	0.0059	0.0241	0.0053	0.0052	0.0205	0.0192	0.0011	0.0187	0.0051	0.0058	0.0004	0.0085	0.0102	0.0070	0.0076	0.0241	0.072	0.35165	T	0.04	0.50809	D	0.229	0.30546	B	0.174	0.35540	B	0.012069	0.29301	N	0.349556	0.854854	0.28443	N	1.15	0.29295	L	0.91	0.44856	T	-1.17	0.29933	N	0.395	0.43610	-1.0154	0.25207	T	0.101	0.37518	T	10	0.005491823	0.00121	T	.	.	.	0.032	0.07718	.	.	0.323342291347	0.31936	0.1607800497811879	0.15999	0.171209344156	0.19289	0.346322804689	0.17378	T	0.102101	0.40949	T	-0.544533	0.00315	T	-0.535363	0.18754	T	0.0170223713933494	0.00451	T	0.873013	0.58094	D	0.0435973	0.06821	0.05841588	0.10790	0.0435973	0.06821	0.05841588	0.10790	-3.821	0.21119	T	.	.	0.111	0.21466	B	.;.	.;.	2.246897	0.28697	17.88	0.98645243699174356	0.44110	0.97081	0.72578	D	AEFBI	0.257301	0.37605	N	-0.411462268572135	0.25066	1.358009	-0.299378036005498	0.28119	1.56532	0.0742263954363048	0.15659	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.42	0.088	0.13762	0.926000	0.28405	0.126000	0.14982	0.599000	0.40250	0.562000	0.27441	0.685000	0.26142	0.998000	0.85391	0.0:0.3314:0.3729:0.2956	5.881	0.18101	147	0.94143	Timeless protein;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010070	0.000000	0.005435	0.002924	0.000000	0.000000	0.018293	0.034091	0.1	1799.14	34	chr12	56433425	.	C	A	1799.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.566;DP=426;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.791;SOR=0.713	GT:AD:DP:GQ:PL	0/1:30,38:68:99:888,0,678	8	0	2	0
chr12	56569953	56569953	C	T	exonic	RBMS2	.	nonsynonymous SNV	RBMS2:NM_002898:exon4:c.C347T:p.A116V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0175527924345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.008	0.67890	D	0.363	0.33965	B	0.275	0.40079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.645	0.42016	L	2.19	0.18724	T	-3.36	0.67477	D	0.734	0.74098	-1.0940	0.04899	T	0.067	0.27572	T	10	0.6144192	0.67625	D	0.017553	0.39293	T	0.236	0.53931	0.478	0.55663	0.351180957027	0.34734	0.4453915825323021	0.44457	1.01104211477	0.74777	0.76329600811	0.76421	T	0.177548	0.52788	T	0.0698262	0.60828	D	-0.137476	0.60337	T	0.979389607906342	0.72804	D	0.953905	0.82456	D	0.59481806	0.72410	0.4171486	0.65777	0.59481806	0.72412	0.4171486	0.65777	-8.359	0.63491	D	.	.	0.339	0.55842	B	.;.	.;.	4.598546	0.72809	25.9	0.99893158360783374	0.96666	0.97927	0.78187	D	AEFBI	0.840672	0.75794	D	0.335852515311519	0.57997	3.969569	0.454248449485759	0.64989	4.767464	0.999999999999996	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.566861	0.19136	0	0.735409	0.98432	0	.	.	5.13	5.13	0.69729	7.749000	0.83987	7.432000	0.58801	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.748	0.88334	62	0.97349	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1162.43	33	chr12	56569953	.	C	T	1162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.704;DP=414;ExcessHet=0;FS=1.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.077;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1133	9	0	1	0
chr12	56601026	56601026	C	T	exonic	BAZ2A	.	nonsynonymous SNV	BAZ2A:NM_001300905:exon22:c.G4367A:p.R1456Q,BAZ2A:NM_013449:exon22:c.G4373A:p.R1458Q,BAZ2A:NM_001351156:exon24:c.G4277A:p.R1426Q	.	.	.	.	.	.	.	.	.	.	.	3301539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.307	0.128559277079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1006050937	2.743e-06	2.736e-06	4.092e-06	1.379e-06	2.993e-05	6.4e-07	4.3e-07	.	.	2.993e-05	0	0	0	1.879e-05	0	9.007e-07	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.74	0.50459	T	-3.2	0.68764	D	0.455	0.49237	-0.5719	0.65939	T	0.299	0.67017	T	10	0.6545311	0.69796	D	0.128559	0.81052	D	0.307	0.62838	0.561	0.68093	0.718068304799	0.71558	0.7681319148323212	0.76762	1.24671669399	0.81698	0.61271572113	0.54700	T	0.330762	0.70091	T	0.151049	0.69366	D	-0.020805	0.68975	D	0.98032134771347	0.73299	D	0.990301	0.96997	D	0.6114768	0.73307	0.57325166	0.75283	0.6114768	0.73308	0.57325166	0.75283	-8.278	0.62949	D	.	.	0.433	0.63613	A	.;.;.;.	.;.;.;.	5.058912	0.84304	28.3	0.99955735913469335	0.99975	0.96558	0.69741	D	AEFDGBCI	0.890788	0.82615	D	0.795238705746555	0.85806	8.687659	0.780211606539736	0.88385	9.562401	0.999999999999184	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	7.581000	0.81826	6.014000	0.52691	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:1.0:0.0:0.0	18.560	0.91050	73	0.96914	WHIM2 domain;WHIM2 domain;WHIM2 domain;WHIM2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2535.43	39	chr12	56601026	.	C	T	2535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=579;ExcessHet=0;FS=8.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.1;SOR=1.191	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	254.49	72	chr12	56716773	.	G	C	254.49	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.619;DP=670;ExcessHet=0.7463;FS=223.803;InbreedingCoeff=-0.1778;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.538;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:75:.:.:0,75,1295:.	7	0	3	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	124.42	79	chr12	56716774	.	T	C	124.42	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.33;DP=666;ExcessHet=0.2348;FS=149.279;InbreedingCoeff=-0.1227;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.683;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,117,1511:.	8	0	2	0
chr12	56717544	56717544	G	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C3986A:p.P1329H	.	426	1094	1	0	1	2	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.236503085061	.	.	0.0001	0	0	0	0	0.0002	0	0.0003	0.00011	17	154602	rs767630213	0.0001	0.0002	9.075e-05	0.0001	0.0003	8.71e-05	8.143e-05	0.0001	0.0001	0.0001	0	0.0017	4.377e-05	0	0.0003	6.722e-05	0.0003	0.0002	8.631e-05	0.0003	0.0001	6.799e-05	4.883e-05	5.007e-05	4.001e-05	1.181e-05	6.27e-06	4.883e-05	0	0	0.0023	0	0	0	4.448e-05	0	0	0.0	0.91255	D	0.035	0.52389	D	0.997	0.70673	D	0.712	0.54560	P	.	.	.	.	1	0.81001	D	.	.	.	0.94	0.43672	T	-0.68	0.19509	N	0.229	0.25745	-1.0103	0.26823	T	0.141	0.46016	T	7	0.043607265	0.03229	T	0.236503	0.88503	D	0.091	0.26358	0.303	0.27164	0.327419511103	0.32360	.	.	.	.	.	.	.	0.090812	0.38663	T	-0.460796	0.00972	T	-0.604843	0.12408	T	0.0761419028771863	0.09487	T	0.265573	0.04334	T	0.104010515	0.24586	0.14393446	0.34189	0.104010515	0.24586	0.14393446	0.34188	-5.982	0.46129	T	.	.	0.203	0.42735	B	.	.	1.780691	0.22640	15.70	0.50182050468065631	0.04339	0.36188	0.25476	N	AEFDBCI	0.190083	0.31732	N	-0.259459540554795	0.30726	1.716066	-0.440671993732231	0.23814	1.300675	0.999999838325268	0.74766	0.475973	0.10046	0	0.289287	0.05216	2	0.536957	0.11973	0	0.528226	0.09195	0	.	.	3.69	3.69	0.41483	0.540000	0.22900	0.137000	0.15122	0.604000	0.46097	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1098:0.0:0.8902:0.0	9.481	0.38067	45	0.97767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1237.43	47	chr12	56717544	.	G	T	1237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.589;DP=543;ExcessHet=0;FS=5.533;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.68;MQRankSum=1.56;QD=14.56;ReadPosRankSum=2.04;SOR=0.818	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,117,1511	9	0	1	0
chr12	56720329	56720329	C	T	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G1201A:p.V401I,NACA:NM_001365896:exon3:c.G1201A:p.V401I	.	431	1042	47	2	0	51	0.0238876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0080	0.0071885	0.0085	0.0021	0.0026	0	0.0023	0.0087	0.0078	0.0227	0.0086157	1332	154602	rs149200196	0.0099	0.0100	0.0096	0.0103	0.0222	0.0098	0.0097	0.0214	0.0210	0.0022	0.0035	0.0047	7.557e-05	0.0022	0.0125	0.0105	0.0072	0.0222	0.0064	0.0064	0.0068	0.0061	0.0224	0.0061	0.0060	0.0190	0.0177	0.0019	0	0.0054	0.0037	0	0.0036	0.0170	0.0095	0.0047	0.0224	0.0	0.91255	D	0.284	0.25514	T	0.027	0.19556	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.69	0.51714	T	-0.28	0.14588	N	0.067	0.04913	-1.0433	0.16324	T	0.043	0.18659	T	9	0.0027790666	0.00044	T	.	.	.	0.017	0.02790	.	.	0.0846915920261	0.08053	0.026496213943266036	0.02599	0.0300485160316	0.03099	0.2774695158	0.07142	T	0.086986	0.37845	T	-0.631707	0.00093	T	-0.662594	0.08092	T	0.00737030575753901	0.00085	T	0.471053	0.13966	T	0.08163117	0.18766	0.08464307	0.19487	0.08163117	0.18765	0.08464307	0.19486	-4.015	0.24027	T	.	.	0.107	0.20078	B	.;.	.;.	-0.056359	0.03909	0.861	0.97167113773209157	0.32660	0.07237	0.13261	N	AEFBCI	0.030556	0.03100	N	-1.15211174013493	0.05746	0.2627286	-1.18914133857327	0.06090	0.2921035	0.999421206361269	0.39630	0.729952	0.87565	0	0.587265	0.34161	0	0.759307	0.98198	0	0.692231	0.68500	0	.	.	3.49	-0.785	0.10397	-0.252000	0.08825	-2.655000	0.03502	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.0:0.5255:0.0:0.4745	6.608	0.21930	45	0.97767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.008152	0.008772	0.050000	0.017241	0.012195	0.026515	0.05	964.43	74	chr12	56720329	.	C	T	964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.056;DP=621;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.118;SOR=0.656	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr12	56720806	56720806	C	A	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001113203:exon3:c.G724T:p.A242S,NACA:NM_001365896:exon3:c.G724T:p.A242S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00984222075992	.	.	8.314e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs547750565	2.737e-06	2.736e-06	0	5.501e-06	0.0002	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.68238	D	0.924	0.18505	T	0.025	0.19245	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.37	0.34253	T	0.11	0.06026	N	0.079	0.05414	-1.0100	0.26917	T	0.038	0.16376	T	9	0.04027897	0.02584	T	0.009842	0.25653	T	0.028	0.06331	0.224	0.14813	0.0401082797425	0.02173	0.029372101696445472	0.02886	0.0199914739455	0.01959	0.260316967964	0.04928	T	0.05447	0.29735	T	-0.456064	0.01039	T	-0.711353	0.05226	T	0.0832268381520231	0.10394	T	0.432057	0.11757	T	0.04889258	0.08596	0.058267217	0.10737	0.04889258	0.08596	0.058267217	0.10737	-3.066	0.13570	T	.	.	0.086	0.10594	B	.;.	.;.	0.637960	0.10061	6.813	0.21926692250541083	0.00858	0.07521	0.13536	N	AEFDBCIJ	0.035926	0.04705	N	-1.46877402316892	0.02074	0.09118415	-1.53537263910468	0.02078	0.09504711	0.999980995899251	0.51787	0.489673	0.17934	0	0.516746	0.08562	0	0.633826	0.45126	0	0.662433	0.64102	0	.	.	2.99	-3.69	0.04162	-0.052000	0.11821	0.581000	0.19707	-0.210000	0.08370	0.009000	0.18154	0.990000	0.31317	0.003000	0.05239	0.0:0.1485:0.5399:0.3116	5.017	0.13685	45	0.97767	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1214.43	34	chr12	56720806	.	C	A	1214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=527;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-1.593;SOR=0.741	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	9	0	1	0
chr12	56957407	56957407	C	T	exonic	RDH16	.	nonsynonymous SNV	RDH16:NM_003708:exon1:c.G56A:p.R19Q	.	435	1085	2	0	0	2	0.00092081	.	.	.	3582973	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.295	0.061256019854	.	0.000199681	6.607e-05	0	8.637e-05	0	0	3.002e-05	0	0.0003	6.47e-05	10	154602	rs199814447	8.14e-05	8.14e-05	6.262e-05	0.0001	0.0010	6.935e-05	6.486e-05	0.0005	0.0003	0	0	0	5.038e-05	1.872e-05	0.0010	6.835e-05	0.0001	0.0003	5.254e-05	5.249e-05	8.997e-05	1.343e-05	0.0002	2.556e-05	1.829e-05	3.763e-05	2.576e-05	0	0	6.533e-05	0	0	0	0	8.823e-05	0	0.0002	0.013	0.53900	D	0.014	0.62352	D	0.858	0.47274	P	0.325	0.41883	B	0.001437	0.39044	N	0.102179	0.839538	0.28650	N	1.28	0.32218	L	-2.42	0.88611	D	-3.51	0.68298	D	0.159	0.16586	-0.0429	0.81357	T	0.532	0.82631	D	10	0.10614887	0.19656	T	0.061256	0.68271	D	0.295	0.61502	.	.	0.644380479949	0.64144	0.30372319471584475	0.30285	0.24915423998	0.27484	0.270541667938	0.06212	T	0.352323	0.71977	T	-0.246477	0.14533	T	-0.295632	0.45184	T	0.132938620130196	0.15652	T	0.829517	0.49484	T	0.15709345	0.35416	0.17655629	0.40198	0.15709345	0.35415	0.17655629	0.40197	-7.492	0.57554	T	.	.	0.136	0.29724	B	.	.	2.581853	0.33479	19.35	0.99915301843870608	0.98379	0.58135	0.30561	D	AEFDGBHCI	0.222406	0.34690	N	0.185767730521295	0.50516	3.240829	0.184574933692803	0.49000	3.108776	0.999992119558525	0.74766	0.580535	0.33130	0	0.563428	0.19063	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.72	3.8	0.42887	0.131000	0.15696	-2.777000	0.03372	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.620000	0.31896	0.1627:0.7489:0.0:0.0884	7.583	0.27144	476	0.77720	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2556.43	33	chr12	56957407	.	C	T	2556.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.007;DP=548;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.468;SOR=0.659	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr12	57002801	57002801	G	A	exonic	ZBTB39	.	nonsynonymous SNV	ZBTB39:NM_014830:exon2:c.C2117T:p.A706V	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.00933289930028	0.0008	0.000998403	0.0007	0.0015	0.0006	0.0001	0	0.0008	0.0011	0.0004	0.0006662	103	154602	rs116414697	0.0004	0.0004	0.0004	0.0004	0.0104	0.0004	0.0004	0.0083	0.0075	0.0019	0.0004	0.0001	2.519e-05	0	0.0104	0.0003	0.0010	0.0003	0.0008	0.0008	0.0009	0.0007	0.0018	0.0007	0.0006	0.0015	0.0013	0.0018	0	0.0006	0	0	0	0.0068	0.0005	0.0005	0.0002	0.17	0.22833	T	0.178	0.29639	T	0.991	0.64070	D	0.403	0.44588	B	0.006645	0.31890	N	0.260319	0.984849	0.40201	D	0.345	0.11182	N	3.08	0.08460	T	-0.11	0.08653	N	0.071	0.04426	-0.8950	0.48483	T	0.016	0.06377	T	10	0.008271784	0.00188	T	0.009333	0.24483	T	0.156	0.40720	.	.	0.514811571519	0.51123	0.1858548726312891	0.18503	0.171660082868	0.19330	0.543152630329	0.44891	T	0.013812	0.11878	T	-0.460822	0.00972	T	-0.441979	0.28586	T	0.0425485443005567	0.04156	T	0.647535	0.25853	T	0.032245614	0.03213	0.053874213	0.09157	0.032245614	0.03212	0.053874213	0.09157	-4.067	0.24802	T	.	.	0.121	0.25166	B	.	.	3.486579	0.48718	22.7	0.99710074616565936	0.81283	0.99293	0.94067	D	AEFDBI	0.803577	0.72868	D	0.375915727508221	0.60120	4.197504	0.494142150245018	0.67602	5.105908	0.99999999999537	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	6.749000	0.74678	7.623000	0.62394	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	16.761	0.85372	152	0.94023	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012097	0.000000	0.021739	0.002924	0.000000	0.051724	0.000000	0.003788	0.15	3496.45	37	chr12	57002801	.	G	A	3496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.36;DP=576;ExcessHet=0.7463;FS=1.936;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.357;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1311	7	0	3	0
chr12	57044140	57044140	C	A	exonic	MYO1A	.	nonsynonymous SNV	MYO1A:NM_005379:exon9:c.G710T:p.G237V,MYO1A:NM_001256041:exon10:c.G710T:p.G237V	.	0	1518	4	0	0	4	0.00131579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.1354818905	.	0.000399361	0.0005	0	0	0	0	1.498e-05	0.0011	0.0036	0.0004075	63	154602	rs560195758	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	6.708e-05	0	2.519e-05	0	0	4.496e-06	0.0002	0.0035	9.192e-05	9.186e-05	1.285e-05	0.0002	0.0029	5.524e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.005	0.63226	D	0.031	0.53788	D	1.0	0.90584	D	1.0	0.97372	D	0.000184	0.48115	D	0.174340	1	0.81001	D	2.865	0.83145	M	-2.46	0.88924	D	-3.65	0.69950	D	0.658	0.66787	0.831	0.94797	D	0.834	0.94429	D	10	0.108454645	0.20189	T	0.135482	0.81794	D	0.641	0.86333	0.715	0.85051	0.918274983411	0.91745	0.6861370824405457	0.68553	0.386541254398	0.39939	0.437900453806	0.30291	T	0.736438	0.92664	D	-0.148664	0.28520	T	0.0112561	0.71063	D	0.20370182979876	0.20618	T	0.758124	0.38180	T	0.5532322	0.70136	0.47304904	0.69454	0.5532322	0.70137	0.47304904	0.69455	-10.299	0.75682	D	.	.	0.152	0.33573	B	.;.	.;.	3.302575	0.45341	22.1	0.99762685991083577	0.85172	0.94239	0.60538	D	AEFGBI	0.628709	0.61069	D	0.647120448111958	0.76184	6.439575	0.534174003780549	0.70306	5.485601	0.999802481960567	0.43304	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.81	4.81	0.61401	2.999000	0.49161	1.439000	0.26511	0.599000	0.40250	0.974000	0.34632	0.277000	0.24084	0.034000	0.13613	0.0:1.0:0.0:0.0	13.578	0.61350	180	0.92993	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1373.43	33	chr12	57044140	.	C	A	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.605;DP=400;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.35;ReadPosRankSum=0.898;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1160	9	0	1	0
chr12	57272472	57272472	G	A	exonic	R3HDM2	.	nonsynonymous SNV	R3HDM2:NM_001351213:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351214:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351215:exon13:c.C1331T:p.P444L,R3HDM2:NM_001330122:exon14:c.C1385T:p.P462L,R3HDM2:NM_001351208:exon14:c.C1427T:p.P476L,R3HDM2:NM_001351212:exon14:c.C1331T:p.P444L,R3HDM2:NM_001330121:exon15:c.C1385T:p.P462L,R3HDM2:NM_001351205:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351206:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351204:exon16:c.C1481T:p.P494L,R3HDM2:NM_001351207:exon17:c.C1451T:p.P484L	.	418	1079	24	1	0	26	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0298082584246	.	0.000798722	0.0015	0	0	0	0	0.0010	0	0.0026	0.0002393	37	154602	rs143617893	0.0008	0.0008	0.0007	0.0009	0.0084	0.0008	0.0008	0.0065	0.0059	0.0003	0.0006	0.0002	0	4.133e-05	0.0084	0.0008	0.0014	0.0023	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0011	0.0014	0.0019	0.0	0.91255	D	0.12	0.52060	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.999999	0.81001	D	.	.	.	0.72	0.50976	T	-4.23	0.75935	D	0.684	0.70088	-0.7567	0.57583	T	0.259	0.62977	T	8	0.027980268	0.00936	T	0.029808	0.52246	D	0.327	0.64926	.	.	0.547863905467	0.54442	0.4124449609622846	0.41160	.	.	.	.	.	0.09289	0.39097	T	-0.141926	0.29583	T	0.0168812	0.71428	D	0.155121161964957	0.17504	T	0.959004	0.84537	D	.	.	.	.	.	.	.	.	-3.159	0.11986	T	.	.	0.249	0.48386	B	.;.	.;.	3.214957	0.43783	21.8	0.99782575883711377	0.86955	0.98272	0.81139	D	AEFDBI	0.919835	0.89094	D	0.698962197968543	0.79563	7.104418	0.68479593830285	0.81224	7.477021	0.999999999999919	0.74766	0.428477	0.06694	0	0.00446	0.00028	3	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	9.048000	0.93289	9.646000	0.81159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.904	0.85989	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1878.43	33	chr12	57272472	.	G	A	1878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.819;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.239;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1325	9	0	1	0
chr12	57280421	57280421	-	TGC	exonic	R3HDM2	.	nonframeshift insertion	R3HDM2:NM_001351213:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351214:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351215:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351217:exon12:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001330122:exon13:c.1238_1239insGCA:p.Q413_L414insQ,R3HDM2:NM_001351208:exon13:c.1280_1281insGCA:p.Q427_L428insQ,R3HDM2:NM_001351212:exon13:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001351216:exon13:c.1274_1275insGCA:p.Q425_L426insQ,R3HDM2:NM_001351218:exon13:c.1184_1185insGCA:p.Q395_L396insQ,R3HDM2:NM_001330121:exon14:c.1238_1239insGCA:p.Q413_L414insQ,R3HDM2:NM_001330123:exon14:c.1208_1209insGCA:p.Q403_L404insQ,R3HDM2:NM_001351205:exon14:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_001351206:exon14:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_001351209:exon14:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_014925:exon14:c.1238_1239insGCA:p.Q413_L414insQ,R3HDM2:NM_001351204:exon15:c.1334_1335insGCA:p.Q445_L446insQ,R3HDM2:NM_001351211:exon15:c.1304_1305insGCA:p.Q435_L436insQ,R3HDM2:NM_001351207:exon16:c.1304_1305insGCA:p.Q435_L436insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.313e-05	0.0002	0	0.0001	0	9.043e-05	0	6.257e-05	3.84e-05	1	26028	rs773892495	5.272e-05	5.541e-05	4.223e-05	6.331e-05	0.0002	4.281e-05	3.956e-05	8.011e-05	6.246e-05	8.968e-05	8.955e-05	0	0	0	0.0002	5.04e-05	1.657e-05	0.0001	8.551e-05	9.191e-05	5.148e-05	0.0001	0.0002	4.962e-05	3.966e-05	0.0001	9.925e-05	0.0002	0	0	0	0	0	0	4.417e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1152.39	60	chr12	57280421	.	T	TTGC	1152.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=0.799;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1125	9	0	1	0
chr12	57455589	57455589	G	A	exonic	INHBE	.	nonsynonymous SNV	INHBE:NM_031479:exon1:c.G53A:p.R18Q	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.0303304231464	0.0020	0.000399361	0.0015	0.0002	0.0022	0.0002	0	0.0020	0.0011	0.0007	0.0014553	225	154602	rs147161070	0.0017	0.0017	0.0016	0.0017	0.0049	0.0016	0.0016	0.0035	0.0030	0.0004	0.0025	0.0045	5.038e-05	5.634e-05	0.0049	0.0017	0.0022	0.0013	0.0015	0.0015	0.0015	0.0015	0.0044	0.0013	0.0012	0.0035	0.0032	0.0003	0	0.0044	0.0061	0.0004	0	0.0136	0.0015	0.0043	0.0017	0.358	0.11994	T	0.678	0.06147	T	0.001	0.07471	B	0.001	0.04355	B	0.002931	0.35704	N	0.292317	1	0.08975	N	0	0.06538	N	-1.26	0.79176	T	-0.05	0.07736	N	0.119	0.10911	-0.9783	0.35390	T	0.188	0.53886	T	10	0.006094575	0.00137	T	0.03033	0.52661	D	0.195	0.47612	.	.	0.910326776307	0.90943	0.20174336889574454	0.20091	0.285324388294	0.30943	0.320555984974	0.13505	T	0.337684	0.70704	T	-0.46638	0.00896	T	-0.447315	0.27992	T	0.00731476303273553	0.00084	T	0.537046	0.18049	T	0.029543165	0.02466	0.058391027	0.10783	0.029543165	0.02466	0.058391027	0.10783	-3.735	0.19835	T	.	.	0.073	0.04477	B	.	.	1.827354	0.23222	15.93	0.80157496373283865	0.13071	0.31456	0.24342	N	AEFBHCI	0.374710	0.45951	N	-0.973940288681426	0.09163	0.4325344	-0.893354785708029	0.12251	0.6290712	0.99999993705105	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.52208	0.10781	0	0.530356	0.10902	0	.	.	4.95	4.07	0.46726	1.551000	0.35841	4.249000	0.42748	-0.737000	0.03687	0.179000	0.24051	1.000000	0.68203	0.004000	0.06068	0.0952:0.0:0.9048:0.0	9.615	0.38850	268	0.89479	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002026	0.000000	0.004087	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1201.43	33	chr12	57455589	.	G	A	1201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.844;DP=417;ExcessHet=0;FS=0.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.296;SOR=0.8	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1068	9	0	1	0
chr12	57477460	57477460	G	A	exonic	ARHGAP9	.	nonsynonymous SNV	ARHGAP9:NM_001080156:exon2:c.C203T:p.T68M,ARHGAP9:NM_001319852:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367422:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367423:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367424:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367425:exon2:c.C203T:p.T68M,ARHGAP9:NM_001367426:exon2:c.C203T:p.T68M,ARHGAP9:NM_001080157:exon3:c.C755T:p.T252M,ARHGAP9:NM_032496:exon4:c.C755T:p.T252M,ARHGAP9:NM_001319850:exon7:c.C755T:p.T252M	.	406	1114	2	0	0	2	0.000896861	0.0030	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00493737967595	0.0002	0.000199681	0.0002	0	0	0.0002	0.0002	0.0002	0	0.0006	0.0001682	26	154602	rs147287939	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0005	0.0004	0	4.475e-05	0	0.0001	1.872e-05	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	8.993e-05	0.0001	0.0008	6.507e-05	5.319e-05	0.0003	0.0002	2.406e-05	0	0	0	0.0006	0	0	0.0001	0	0.0008	0.36	0.30800	T	0.16	0.33554	T	0.005	0.12996	B	0.006	0.12133	B	0.984731	0.07863	N	1.008660	1	0.08975	N	0.55	0.14455	N	3.05	0.48460	T	-1.74	0.46842	N	0.122	0.13055	-1.0587	0.12083	T	0.070	0.28412	T	10	0.015371174	0.00323	T	0.004937	0.12442	T	0.026	0.05648	.	.	0.158396225186	0.15383	0.23349251639297058	0.23264	0.0489390980061	0.05346	0.27607306838	0.06951	T	0.027078	0.30045	T	-0.548276	0.00299	T	-0.667853	0.07746	T	0.0247795224876703	0.01244	T	0.615039	0.24876	T	.	.	.	.	.	.	.	.	-5.458	0.41521	T	.	.	0.069	0.07507	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-0.012617	0.04196	1.020	0.85849102307018188	0.16151	0.04096	0.09561	N	AEFDGBCI	0.179389	0.30668	N	-1.46824141481479	0.02077	0.09136241	-1.55097695603573	0.01969	0.0899311	0.999996862658159	0.74766	0.582742	0.33608	0	0.52208	0.09955	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	3.29	-2.65	0.05739	-0.857000	0.04394	-1.984000	0.04391	-1.534000	0.00989	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.4042:0.0:0.4589:0.1369	5.147	0.14318	325	0.86759	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	852.43	40	chr12	57477460	.	G	A	852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=399;ExcessHet=0;FS=4.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.54;SOR=1.051	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1215	9	0	1	0
chr12	57516883	57516883	C	T	exonic	DDIT3	.	nonsynonymous SNV	DDIT3:NM_001195056:exon3:c.G505A:p.E169K,DDIT3:NM_001195053:exon4:c.G505A:p.E169K,DDIT3:NM_001195054:exon4:c.G505A:p.E169K,DDIT3:NM_001195055:exon4:c.G505A:p.E169K,DDIT3:NM_001195057:exon4:c.G436A:p.E146K,DDIT3:NM_004083:exon4:c.G436A:p.E146K	Myxoid liposarcoma	10	1511	1	0	0	1	0.000330797	.	.	.	693258	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.278	0.0252380426159	0.0017	0.000998403	0.0015	0.0007	0.0015	0	0.0023	0.0021	0.0011	6.056e-05	0.0016106	249	154602	rs112917609	0.0025	0.0025	0.0027	0.0023	0.0030	0.0024	0.0024	0.0029	0.0028	0.0005	0.0023	7.652e-05	2.519e-05	0.0022	0.0009	0.0030	0.0018	3.478e-05	0.0020	0.0020	0.0022	0.0017	0.0043	0.0018	0.0017	0.0035	0.0032	0.0008	0	0.0043	0	0	0.0006	0	0.0029	0.0019	0	0.0	0.91255	D	0.021	0.59159	D	0.966	0.56202	D	0.567	0.49782	P	0.000095	0.51296	D	0.166578	1	0.81001	D	1.555	0.39373	L	0.92	0.44461	T	-2.89	0.60665	D	0.472	0.56576	-0.8604	0.51234	T	0.166	0.50421	T	10	0.010696679	0.00237	T	0.025238	0.48216	D	0.278	0.59497	.	.	0.644425458896	0.64147	0.19965314620076577	0.19882	0.215396362697	0.24069	0.669970273972	0.62834	T	0.67017	0.90201	D	-0.161526	0.26526	T	-0.00878859	0.69762	D	0.0393735827210285	0.03577	T	0.928507	0.73679	D	0.7284713	0.79637	0.6815772	0.81287	0.7284713	0.79639	0.6815772	0.81288	-5.343	0.40366	T	.	.	0.142	0.41249	B	.;.;.;.;.	.;.;.;.;.	5.041667	0.83916	28.2	0.99931315727587522	0.99387	0.97059	0.72451	D	AEFDGBHCI	0.589170	0.58615	D	0.53473082416987	0.69157	5.317479	0.598777981231101	0.74851	6.20809	1.0	0.98316	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.75	5.75	0.90390	3.464000	0.52821	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.102	0.93259	406	0.82375	Basic-leucine zipper domain|Basic-leucine zipper domain|Basic-leucine zipper domain;Basic-leucine zipper domain|Basic-leucine zipper domain|Basic-leucine zipper domain;.;Basic-leucine zipper domain|Basic-leucine zipper domain|Basic-leucine zipper domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1823.43	131	chr12	57516883	.	C	T	1823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=446;ExcessHet=0;FS=9.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-2.423;SOR=0.265	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr12	57525356	57525356	G	A	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon6:c.G388A:p.A130T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00134042138882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	0.45756	T	1.0	0.27679	T	0.879	0.48338	P	0.173	0.35463	B	0.029619	0.25429	N	0.277119	0.758215	0.29567	N	-1.04	0.01097	N	.	.	.	-0.25	0.68178	N	0.159	0.16586	-1.0853	0.06353	T	0.028	0.12058	T	9	0.084450185	0.14157	T	0.00134	0.01910	T	0.088	0.25558	0.177	0.08379	0.043077524339	0.03247	0.10204779964621111	0.10134	0.0451574241845	0.04887	0.558722376823	0.47088	T	0.011419	0.17455	T	-0.0232448	0.48391	T	-0.271166	0.47701	T	0.558904945850372	0.34814	D	0.724428	0.41876	T	0.07836063	0.17840	0.09579907	0.22736	0.07836063	0.17840	0.09579907	0.22735	-4.071	0.24861	T	.	.	0.069	0.08705	B	.;.;.	.;.;.	2.357035	0.30230	18.37	0.96886043339125905	0.31477	0.73813	0.36104	D	AEFDBCI	0.109978	0.21825	N	-0.131429511745762	0.36028	2.077097	-0.0372600179518153	0.38047	2.236059	0.999997291781035	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	3.73	3.73	0.41982	2.457000	0.44662	3.343000	0.37723	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:1.0:0.0	11.406	0.49139	414	0.81871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	53.41	39	chr12	57525356	.	G	A	53.41	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-2.291;DP=313;ExcessHet=0;FS=73.426;InbreedingCoeff=-0.2125;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=1.43;SOR=5.278	GT:AD:DP:GQ:PL	./.:23,0:23:0:0,0,382	4	0	1	5
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.15	1496.45	37	chr12	57526581	.	C	G	1496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.718;DP=386;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.201;SOR=0.741	GT:AD:DP:GQ:PL	0/1:14,19:33:99:502,0,349	7	0	3	0
chr12	57533300	57533300	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001261412:exon8:c.G679A:p.A227T,DCTN2:NM_001261413:exon8:c.G673A:p.A225T,DCTN2:NM_001348065:exon8:c.G808A:p.A270T,DCTN2:NM_001348068:exon9:c.G412A:p.A138T,DCTN2:NM_001348066:exon10:c.G604A:p.A202T,DCTN2:NM_001348067:exon10:c.G412A:p.A138T	.	430	1089	3	0	0	3	0.00137552	.	.	.	1693597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.567	0.00551967512263	0.0002	.	0.0003	0	0	0.0001	0	0.0004	0	0.0010	0.0003169	49	154602	rs200168725	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0008	2.987e-05	6.708e-05	0	0.0003	3.746e-05	0.0007	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.715e-05	0.0002	0.0002	2.408e-05	0	0	0	0	0	0	0.0003	0	0.0004	0.002	0.72154	D	0.008	0.67890	D	1.0	0.90584	D	0.99	0.78936	D	0.000004	0.62929	D	0.103032	1	0.81001	D	1.62	0.41497	L	.	.	.	-3.25	0.65512	D	0.574	0.64733	-0.3807	0.72629	T	0.422	0.76677	T	9	0.20442232	0.36632	T	0.00552	0.14227	T	0.567	0.82346	.	.	0.493892876729	0.49021	0.4182581277402809	0.41741	0.322224007838	0.34417	0.618051528931	0.55453	T	0.468503	0.80241	T	-0.224342	0.17404	T	-0.16385	0.58004	T	0.147591843545172	0.16910	T	0.940606	0.77799	D	0.5252551	0.68560	0.56992096	0.75098	0.5252551	0.68562	0.56992096	0.75098	-5.786	0.46472	T	.	.	0.106	0.28027	B	.;.;.;.;.;.	.;.;.;.;.;.	4.817670	0.78441	26.9	0.99932927586883569	0.99488	0.97489	0.75080	D	AEFDBI	0.600411	0.59305	D	0.644463995398655	0.76010	6.40842	0.619133790384352	0.76329	6.471172	0.999999999749099	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	4.608000	0.60847	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	17.710	0.88224	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.000000	0.05	1160.43	35	chr12	57533300	.	C	T	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.74;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.952;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr12	57546597	57546597	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001348065:exon1:c.G64A:p.G22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954982075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.582e-06	6.569e-06	0	1.348e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	687.43	35	chr12	57546597	.	C	T	687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.851;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=-0.647;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	9	0	1	0
chr12	57614041	57614041	A	C	exonic	ARHGEF25	.	nonsynonymous SNV	ARHGEF25:NM_001347933:exon6:c.A578C:p.Q193P,ARHGEF25:NM_182947:exon6:c.A578C:p.Q193P,ARHGEF25:NM_001111270:exon7:c.A695C:p.Q232P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00771489263232	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429355540	4.104e-06	4.104e-06	1.361e-06	6.875e-06	5.396e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.345	0.12511	T	0.379	0.18125	T	0.002	0.09854	B	0.015	0.17295	B	0.050877	0.23032	N	0.222920	0.998557	0.45078	D	0.81	0.20779	L	1.03	0.40469	T	-2.93	0.61284	D	0.401	0.46928	-1.0982	0.04315	T	0.049	0.20711	T	10	0.116456896	0.21969	T	0.007715	0.20457	T	0.149	0.39377	0.466	0.53729	0.148003135375	0.14442	0.625672890614222	0.62500	0.646346701716	0.58049	0.384624928236	0.22910	T	0.083014	0.36958	T	-0.118445	0.33378	T	-0.407915	0.32465	T	0.579513370990753	0.35600	D	0.928707	0.73770	D	0.5900053	0.72151	0.36502552	0.61859	0.5900053	0.72152	0.36502552	0.61859	-6.189	0.48722	T	.	.	0.327	0.58948	B	.;.;.	.;.;.	2.771114	0.36375	20.2	0.98803814790319466	0.46493	0.32185	0.24523	N	AEFDBCI	0.424953	0.48992	N	-0.656878994377736	0.17260	0.8866516	-0.498998294073779	0.22182	1.203538	0.999996588905946	0.74766	0.608966	0.35542	0	0.681609	0.65952	0	0.493711	0.08198	1	0.59522	0.37078	0	.	.	4.83	3.69	0.41483	1.270000	0.32689	4.080000	0.41731	0.756000	0.94297	0.001000	0.13787	1.000000	0.68203	0.908000	0.44358	0.8254:0.0:0.1746:0.0	7.800	0.28332	296	0.88164	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2283.43	50	chr12	57614041	.	A	C	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.223;DP=538;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.954;SOR=0.69	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1348	9	0	1	0
chr12	57614054	57614054	G	T	exonic	ARHGEF25	.	nonsynonymous SNV	ARHGEF25:NM_001347933:exon6:c.G591T:p.E197D,ARHGEF25:NM_182947:exon6:c.G591T:p.E197D,ARHGEF25:NM_001111270:exon7:c.G708T:p.E236D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00722623158909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1463355923	4.788e-06	4.788e-06	1.361e-06	8.25e-06	6.295e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.295e-06	0	0	1.314e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.329	0.13175	T	0.518	0.10536	T	0.001	0.07471	B	0.007	0.12992	B	0.001676	0.38326	N	0.000000	0.999977	0.53665	D	0.845	0.21182	L	-0.27	0.67367	T	-0.71	0.20145	N	0.177	0.19055	-0.9764	0.35816	T	0.174	0.51801	T	10	0.080456376	0.13061	T	0.007226	0.19171	T	0.046	0.12618	0.388	0.40951	0.361758802978	0.35793	0.3434673228362613	0.34259	0.20594620734	0.23017	0.610625863075	0.54405	T	0.009674	0.08796	T	-0.108954	0.34940	T	-0.394281	0.34051	T	0.157190337777138	0.17662	T	0.89951	0.64815	D	0.21414806	0.43813	0.14715762	0.34835	0.21414806	0.43813	0.14715762	0.34834	-3.371	0.18524	T	.	.	0.077	0.06387	B	.;.;.	.;.;.	1.963213	0.24940	16.58	0.9569255716008831	0.27572	0.70684	0.34693	D	AEFDBCI	0.274513	0.38968	N	-0.741731246311062	0.14860	0.7438098	-0.568780161555673	0.20309	1.093621	0.999981071735642	0.51787	0.609539	0.35627	0	0.378119	0.05977	1	0.493711	0.08198	1	0.59522	0.37078	0	.	.	4.83	2.94	0.33188	0.534000	0.22807	4.400000	0.43244	-0.104000	0.15758	0.999000	0.42656	1.000000	0.68203	0.721000	0.34804	0.2319:0.0:0.7681:0.0	11.473	0.49527	296	0.88164	.;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2455.43	50	chr12	57614054	.	G	T	2455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.689;DP=551;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=1.34;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1348	9	0	1	0
chr12	57616379	57616379	C	T	exonic	ARHGEF25	.	stopgain	ARHGEF25:NM_001347933:exon13:c.C1426T:p.Q476X,ARHGEF25:NM_182947:exon14:c.C1516T:p.Q506X,ARHGEF25:NM_001111270:exon15:c.C1633T:p.Q545X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.774e-05	9.634e-05	0	0	0	1.5e-05	0	0.0003	4.53e-05	7	154602	rs773245828	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	6.246e-05	4.757e-05	2.987e-05	0	0	2.519e-05	0	0.0002	3.597e-06	6.623e-05	0.0001	6.573e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.081419	0.20867	N	0.252152	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.154	0.17278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161681	0.70356	D	0.294791	0.87953	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.451107	0.96530	36	0.95124674450130686	0.26227	0.30384	0.24068	N	AEFDBI	0.142532	0.26499	N	-0.0125216582496064	0.41288	2.467004	-0.341773788268864	0.26764	1.480469	0.97441390350047	0.29540	0.609539	0.35627	0	0.693144	0.66847	0	0.493711	0.08198	1	0.579976	0.35079	0	.	.	4.79	1.7	0.23359	1.800000	0.38469	0.076000	0.14327	-0.224000	0.07868	0.735000	0.28974	0.002000	0.18203	0.243000	0.23080	0.5616:0.4384:0.0:0.0	10.762	0.45467	286	0.88678	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	854.43	34	chr12	57616379	.	C	T	854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=377;ExcessHet=0;FS=9.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.75;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,994:.	9	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L	Vitamin D-dependent rickets, type I, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	870243	Vitamin_D-dependent_rickets,_type_1A|not_provided|Vitamin_D-dependent_rickets,_type_1	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008577	0.005102	0.000000	0.005882	0.000000	0.000000	0.006135	0.034091	0.05	1500.43	35	chr12	57765390	.	C	G	1500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.824;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.82;SOR=0.725	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr12	57810378	57810378	C	A	exonic	AVIL	.	nonsynonymous SNV	AVIL:NM_006576:exon6:c.G732T:p.Q244H	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	0.00219649	0.0019	9.612e-05	8.642e-05	0	0	4.496e-05	0.0022	0.0138	0.0016559	256	154602	rs553704153	0.0009	0.0009	0.0005	0.0013	0.0149	0.0009	0.0009	0.0142	0.0139	0	0	0	0	0	0	7.194e-06	0.0008	0.0149	0.0005	0.0005	0.0002	0.0009	0.0170	0.0004	0.0004	0.0140	0.0129	0	0	0	0	0	0	0	0	0	0.0170	0.059	0.37536	T	0.182	0.29249	T	0.99	0.63424	D	0.894	0.63417	P	0.000002	0.62929	D	0.062217	0.992705	0.41719	D	2.455	0.71248	M	1.6	0.28604	T	-2.77	0.58733	D	0.236	0.26596	-0.9864	0.33494	T	0.134	0.44700	T	10	0.0045081675	0.00093	T	.	.	.	0.119	0.33137	0.313	0.28774	0.392239652056	0.38839	0.4858277189055344	0.48502	0.114269200615	0.12884	0.371850579977	0.21098	T	0.47864	0.80838	T	-0.47916	0.00748	T	-0.450026	0.27695	T	0.14904947594138	0.17027	T	0.693931	0.30359	T	0.22551382	0.45214	0.20115821	0.44081	0.22551382	0.45214	0.20115821	0.44080	-6.569	0.50816	T	0.33912104432035944	0.43694	0.152	0.33710	B	.	.	3.053401	0.40982	21.3	0.99599399067747163	0.74101	0.37034	0.25669	N	AEFGBCI	0.269338	0.38563	N	-0.0145458003384868	0.41197	2.459923	-0.119999220196825	0.34584	1.991036	0.956089929611213	0.28227	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.19	2.33	0.27981	0.404000	0.20722	0.486000	0.18854	-0.202000	0.08738	0.036000	0.20778	0.997000	0.33255	0.927000	0.46353	0.0:0.6769:0.0:0.3231	8.284	0.31075	197	0.92378	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1257.43	36	chr12	57810378	.	C	A	1257.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.032;DP=459;ExcessHet=0;FS=5.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.612;SOR=1.163	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1245	9	0	1	0
chr12	59775230	59775230	G	A	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.G935A:p.R312Q,SLC16A7:NM_001270622:exon5:c.G935A:p.R312Q,SLC16A7:NM_001270623:exon5:c.G935A:p.R312Q	.	430	1090	2	0	0	2	0.00091659	.	.	.	3477229	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.614	0.082681343544	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs752116486	5.473e-06	5.472e-06	4.084e-06	6.876e-06	3.478e-05	2.35e-06	1.7e-06	9.24e-06	4.56e-06	2.987e-05	0	0	0	1.872e-05	0	8.993e-07	3.312e-05	3.478e-05	1.315e-05	1.313e-05	1.285e-05	1.345e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.107	0.37730	T	0.998	0.73220	D	0.938	0.67350	D	0.005972	0.32369	N	0.261657	0.965753	0.38487	D	3.145	0.88303	M	-1.77	0.83660	D	-2.38	0.52938	N	0.516	0.54671	0.344	0.88241	D	0.661	0.88212	D	9	0.6193577	0.67888	D	0.082681	0.73953	D	0.614	0.84932	0.688	0.82558	0.958256472873	0.95780	0.4520497812980704	0.45122	0.335772900916	0.35578	0.342075407505	0.16748	T	0.496586	0.81882	T	-0.028833	0.47585	T	-0.0976651	0.63578	T	0.953375160694122	0.64011	D	0.937306	0.77406	D	0.2262507	0.45302	0.09709591	0.23096	0.2262507	0.45302	0.09709591	0.23096	-8.805	0.66433	D	.	.	0.138	0.34689	B	.;.;.;.;.	.;.;.;.;.	5.033443	0.83731	28.1	0.99959891180869842	0.99994	0.87859	0.47545	D	AEFI	0.166305	0.29288	N	0.689857511386648	0.78968	6.979559	0.678646072335746	0.80760	7.371204	0.011897459155237	0.12251	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.76	5.76	0.90726	3.745000	0.54838	7.692000	0.65839	0.674000	0.70861	0.998000	0.41325	1.000000	0.68203	0.958000	0.51230	0.1093:0.0:0.8907:0.0	11.356	0.48857	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3226.43	34	chr12	59775230	.	G	A	3226.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=514;ExcessHet=0;FS=1.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.89;ReadPosRankSum=-0.597;SOR=0.617	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1086	9	0	1	0
chr12	59775376	59775376	A	G	exonic	SLC16A7	.	nonsynonymous SNV	SLC16A7:NM_004731:exon4:c.A1081G:p.T361A,SLC16A7:NM_001270622:exon5:c.A1081G:p.T361A,SLC16A7:NM_001270623:exon5:c.A1081G:p.T361A	.	429	1081	10	2	0	14	0.00643382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0169708297731	0.0002	0.00179712	0.0015	9.61e-05	0.0005	0	0	0.0001	0.0022	0.0098	0.0012872	199	154602	rs143304922	0.0007	0.0007	0.0004	0.0010	0.0096	0.0007	0.0007	0.0091	0.0089	0	8.946e-05	3.826e-05	0	1.872e-05	0.0043	0.0001	0.0010	0.0096	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0065	0.0058	7.288e-05	0	0.0002	0	0	0	0.0034	0.0004	0.0005	0.0086	0.02	0.52492	D	0.088	0.41913	T	0.868	0.47740	P	0.644	0.52249	P	0.000069	0.52346	D	0.198001	0.998489	0.46174	D	1.995	0.54099	M	1.01	0.41058	T	-1.99	0.48850	N	0.632	0.66615	-0.9891	0.32828	T	0.145	0.46823	T	9	0.010718942	0.00237	T	0.016971	0.38471	T	0.189	0.46613	.	.	0.577534042849	0.57422	0.45691763541533287	0.45609	0.200536113412	0.22454	0.504253149033	0.39420	T	0.183169	0.54321	T	-0.403557	0.02194	T	-0.344925	0.39786	T	0.0933221570739685	0.11607	T	0.90391	0.70896	D	0.54180837	0.69497	0.17784451	0.40414	0.54180837	0.69498	0.17784451	0.40413	-3.492	0.16320	T	.	.	0.214	0.50472	B	.;.;.;.;.	.;.;.;.;.	3.607230	0.50976	23.0	0.99684936706490079	0.79507	0.95673	0.65672	D	AEFI	0.543630	0.55888	D	0.213590797103061	0.51858	3.363847	0.184636665345029	0.49006	3.109056	0.00357927579864097	0.10184	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.77	3.33	0.37245	4.425000	0.59623	6.107000	0.53619	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.7452:0.0:0.0:0.2548	11.077	0.47257	892	0.26670	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.000000	0.002717	0.008876	0.000000	0.000000	0.006098	0.007576	0.05	1983.43	34	chr12	59775376	.	A	G	1983.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=454;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.8;ReadPosRankSum=-0.308;SOR=0.601	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1086	9	0	1	0
chr12	62349258	62349258	A	G	exonic	USP15	.	nonsynonymous SNV	USP15:NM_001252078:exon7:c.A721G:p.I241V,USP15:NM_001351159:exon8:c.A358G:p.I120V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0173543624238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	0.07497	T	0.563	0.09022	T	0.281	0.32101	B	0.054	0.25828	B	0.000046	0.53742	D	0.122576	0.99157	0.81001	D	1.39	0.34934	L	2.23	0.18083	T	-0.15	0.09297	N	0.384	0.42541	-1.0551	0.13013	T	0.028	0.12190	T	8	0.18719232	0.34219	T	0.017354	0.39013	T	0.096	0.27654	0.135	0.03920	0.413450081142	0.40960	0.24231640312257655	0.24145	0.893334339126	0.70316	0.789092421532	0.80305	T	0.053841	0.29557	T	-0.108832	0.34962	T	-0.394106	0.34072	T	0.971616208553314	0.69384	D	0.817118	0.47377	T	0.041896038	0.06254	0.040611	0.04429	0.041896038	0.06254	0.040611	0.04429	-3.139	0.11750	T	.	.	0.086	0.10642	B	.	.	3.403709	0.47185	22.4	0.92967287166431267	0.22545	0.97917	0.78108	D	AEFGBI	0.898431	0.84172	D	0.0828906445442274	0.45665	2.819298	0.213602569760006	0.50601	3.250485	0.934184209829921	0.27160	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.41	4.25	0.49658	8.718000	0.91150	11.182000	0.88348	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8678:0.0:0.0:0.1322	11.736	0.51034	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.45	36	chr12	62349258	.	A	G	52.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.236;DP=258;ExcessHet=0;FS=15.413;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=-0.06;SOR=4.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,134:.	9	0	1	0
chr12	62349260	62349260	C	G	exonic	USP15	.	nonsynonymous SNV	USP15:NM_001252078:exon7:c.C723G:p.I241M,USP15:NM_001351159:exon8:c.C360G:p.I120M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.032360609056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.351e-05	0.0002	7.041e-05	3.616e-05	0.0001	4.338e-05	3.986e-05	4.489e-05	4.039e-05	0.0001	0	8.184e-05	2.923e-05	0	0	5.68e-05	7.136e-05	1.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.097	0.39190	T	0.979	0.59044	D	0.659	0.52771	P	0.000046	0.53742	D	0.122576	0.991075	0.81001	D	1.39	0.34934	L	2.16	0.19166	T	-0.44	0.14588	N	0.605	0.62273	-1.1313	0.01721	T	0.063	0.26136	T	8	0.42980826	0.57416	T	0.032361	0.54205	D	0.166	0.42578	0.163	0.06730	0.473932634616	0.47021	0.3441554614283928	0.34329	1.46540379897	0.86441	0.817077875137	0.84579	D	0.051755	0.28969	T	-0.0179581	0.49145	T	-0.263572	0.48467	T	0.795558631420135	0.46055	D	0.657934	0.26722	T	0.06891861	0.15055	0.059590667	0.11210	0.06891861	0.15055	0.059590667	0.11209	-3.923	0.22647	T	.	.	0.109	0.20896	B	.	.	3.902481	0.56852	23.8	0.99292794450640687	0.58326	0.94663	0.61905	D	AEFGBI	0.528732	0.55014	D	0.308795654696017	0.56598	3.824832	0.30948990946223	0.56098	3.772625	0.266488731153909	0.18846	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.41	3.54	0.39650	2.881000	0.48236	3.965000	0.40779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1446:0.7089:0.0:0.1465	6.673	0.22269	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	52.7	36	chr12	62349260	.	C	G	52.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.923;DP=213;ExcessHet=0;FS=15.413;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=-0.04;SOR=4.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:5,0:5:15:.:.:0,15,113:.	9	0	1	0
chr12	62349262	62349262	C	G	exonic	USP15	.	nonsynonymous SNV	USP15:NM_001252078:exon7:c.C725G:p.S242C,USP15:NM_001351159:exon8:c.C362G:p.S121C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0778893444758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	0.011	0.15914	B	0.007	0.12992	B	0.009529	0.30318	N	0.318787	0.999981	0.81001	D	2.015	0.55033	M	1.93	0.22881	T	-1.55	0.37566	N	0.645	0.65673	-1.0911	0.05351	T	0.051	0.21611	T	8	0.4293452	0.57387	T	0.077889	0.72877	D	0.201	0.48592	0.224	0.14813	0.607365866859	0.60421	0.5894015419647625	0.58870	2.15529414545	0.95345	0.824171900749	0.85668	D	0.103148	0.41153	T	0.129019	0.67266	D	-0.0524501	0.66855	D	0.864173650741577	0.51436	D	0.815918	0.47089	T	0.15247115	0.34610	0.105967395	0.25483	0.15247115	0.34610	0.105967395	0.25483	-6.099	0.47100	T	.	.	0.126	0.26700	B	.	.	3.660991	0.52006	23.2	0.99267260621117914	0.57423	0.98499	0.83426	D	AEFGBI	0.792799	0.72099	D	0.131490864898105	0.47937	3.012489	0.312350973903366	0.56264	3.78957	0.999999978749106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.633000	0.67500	5.958000	0.51771	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.208	0.93730	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	53.9	36	chr12	62349262	.	C	G	53.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0;DP=222;ExcessHet=0;FS=15.413;InbreedingCoeff=-0.1217;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=0.08;SOR=4.047	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:3,0:3:0:.:.:0,0,27:.	7	0	1	2
chr12	64830440	64830440	C	T	exonic	TBC1D30	.	nonsynonymous SNV	TBC1D30:NM_001330186:exon4:c.C346T:p.R116C,TBC1D30:NM_001364838:exon4:c.C4T:p.R2C,TBC1D30:NM_015279:exon4:c.C346T:p.R116C,TBC1D30:NM_001330187:exon6:c.C4T:p.R2C,TBC1D30:NM_001330188:exon6:c.C4T:p.R2C	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	.	0.00359425	0.0094	0	0.0106	0	0.0258	0.0065	0.0272	0.0079	0.0017335	268	154602	rs150781447	0.0064	0.0061	0.0064	0.0065	0.0066	0.0063	0.0063	0.0065	0.0064	0.0010	0.0024	0.0004	0.0002	0.0235	0.0011	0.0066	0.0060	0.0065	0.0053	0.0053	0.0047	0.0059	0.0062	0.0050	0.0049	0.0057	0.0056	0.0011	0.0164	0.0035	0.0012	0.0006	0.0213	0	0.0062	0.0038	0.0048	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.6	0.52187	T	-4.09	0.90215	D	0.764	0.76203	-0.5688	0.66063	T	0.227	0.59246	T	9	0.009200603	0.00208	T	.	.	.	0.249	0.55752	.	.	0.713283039119	0.71077	0.8827341055890763	0.88241	.	.	0.88533437252	0.94666	D	0.096004	0.39736	T	-0.213355	0.18908	T	-0.0752411	0.65249	T	0.0197525379161602	0.00677	T	0.982152	0.96102	D	.	.	.	.	.	.	.	.	-11.345	0.81516	D	.	.	0.638	0.80145	P	.;.;.;.	.;.;.;.	5.592259	0.92390	32	0.99912410541778518	0.98167	0.95516	0.65032	D	AEFBI	0.793286	0.72133	D	0.673652848070092	0.77906	6.765853	0.650746418531569	0.78664	6.922308	0.999999819888137	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.667671	0.60360	0	0.655142	0.61905	0	.	.	5.91	5.02	0.66742	5.889000	0.69508	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9315:0.0:0.0685	14.834	0.69800	438	0.80235	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1738.43	35	chr12	64830440	.	C	T	1738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.863;DP=479;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=0.86;SOR=0.638	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr12	66331562	66331562	A	G	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon12:c.A3079G:p.T1027A,HELB:NM_033647:exon12:c.A3079G:p.T1027A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00266241839731	7.7e-05	.	4.126e-05	0	8.648e-05	0.0002	0	1.503e-05	0	6.058e-05	3.88e-05	6	154602	rs368164516	3.695e-05	3.694e-05	3.676e-05	3.713e-05	0.0006	2.894e-05	2.593e-05	0.0004	0.0003	0.0002	2.236e-05	0	0.0006	0	0	1.259e-05	0.0001	4.637e-05	1.97e-05	1.97e-05	2.569e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0	0	0.142	0.25457	T	0.278	0.21812	T	0.001	0.07471	B	0.001	0.04355	B	0.501677	0.11942	N	0.761152	1	0.08975	N	0.975	0.24501	L	2.72	0.11947	T	-0.69	0.19720	N	0.062	0.03392	-0.9717	0.36841	T	0.019	0.07939	T	9	0.03390646	0.01580	T	0.002662	0.05434	T	0.011	0.01250	.	.	0.0401082797425	0.02173	0.19860051586845942	0.19777	0.157388292501	0.17771	0.23448613286	0.02316	T	0.002329	0.01729	T	-0.608329	0.00130	T	-0.791589	0.02121	T	0.0231343791970195	0.01039	T	.	.	.	0.029038047	0.02334	0.029832449	0.01366	0.029038047	0.02334	0.029832449	0.01366	-3.59	0.17713	T	.	.	0.067	0.02609	B	.	.	-1.693068	0.00198	0.003	0.29877239688059032	0.01606	0.01337	0.04602	N	AEFBI	0.028941	0.02643	N	-1.74002815453562	0.00709	0.03061599	-1.79656023137305	0.00770	0.03434735	0.765501359773788	0.23580	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.97	-4.93	0.02839	-1.452000	0.02492	-0.717000	0.07722	-2.317000	0.00317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3758:0.1359:0.4883:0.0	8.089	0.29948	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2130.43	44	chr12	66331562	.	A	G	2130.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=542;ExcessHet=0;FS=5.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.292;SOR=0.786	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr12	66432560	66432560	T	G	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon13:c.A1600C:p.I534L,GRIP1:NM_001366723:exon13:c.A1675C:p.I559L,GRIP1:NM_001366724:exon13:c.A1678C:p.I560L,GRIP1:NM_001379347:exon13:c.A1678C:p.I560L,GRIP1:NM_001379348:exon13:c.A1675C:p.I559L,GRIP1:NM_001379349:exon13:c.A1603C:p.I535L,GRIP1:NM_001379351:exon13:c.A1600C:p.I534L,GRIP1:NM_021150:exon13:c.A1600C:p.I534L,GRIP1:NM_001366722:exon14:c.A1756C:p.I586L,GRIP1:NM_001379345:exon14:c.A1834C:p.I612L,GRIP1:NM_001379346:exon14:c.A1756C:p.I586L	Fraser syndrome, Autosomal recessive	46	1475	1	0	0	1	0.000338868	.	.	.	260034	GRIP1-related_disorder|Fraser_syndrome_3|not_specified|not_provided	.|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	0.011833627667	0.0011	0.00159744	0.0012	0.0003	0.0015	0	0	0.0018	0	0.0006	0.0013842	214	154602	rs189438534	0.0023	0.0023	0.0024	0.0022	0.0028	0.0022	0.0022	0.0027	0.0027	0.0005	0.0011	7.707e-05	0	3.822e-05	0.0004	0.0028	0.0017	0.0005	0.0015	0.0015	0.0016	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0013	0	0	0	0	0.0024	0.0033	0.0010	0.084	0.34982	T	0.145	0.36233	T	0.032	0.23728	B	0.472	0.58097	P	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	1.47	0.36993	L	1.58	0.29085	T	-1.55	0.37566	N	0.618	0.70175	-0.8926	0.48705	T	0.121	0.42230	T	9	0.013707876	0.00290	T	0.011834	0.29841	T	0.177	0.44549	0.471	0.54537	0.582802052142	0.57952	0.6204692298215717	0.61979	0.796113115441	0.66047	0.796547651291	0.81437	T	0.18903	0.54312	T	-0.178476	0.23964	T	-0.0343822	0.68078	D	0.0231282603619291	0.01039	T	0.946205	0.82322	D	0.3468109	0.56817	0.27634597	0.53579	0.34760067	0.56880	0.26122522	0.51896	-9.54	0.71107	D	0.2590036289553488	0.34990	0.331	0.56416	B	.;.;.;.;.	.;.;.;.;.	4.243530	0.64354	24.7	0.98981706264036484	0.49740	0.92075	0.54889	D	AEFBI	0.642672	0.61957	D	0.0991218406937485	0.46421	2.882742	0.268389928392598	0.53702	3.537949	0.998754134447093	0.37602	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.84	5.84	0.93373	6.302000	0.72759	7.730000	0.67710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:0.0:1.0	15.876	0.78948	915	0.20917	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	500.43	35	chr12	66432560	.	T	G	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.859;DP=373;ExcessHet=0;FS=4.062;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.927;SOR=1.414	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1008	9	0	1	0
chr12	66456330	66456330	C	T	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001366722:exon10:c.G1055A:p.R352K,GRIP1:NM_001379345:exon10:c.G1133A:p.R378K,GRIP1:NM_001379346:exon10:c.G1055A:p.R352K	Fraser syndrome, Autosomal recessive	8	1513	1	0	0	1	0.00033036	.	.	.	3190090	GRIP1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0326676850449	.	.	0.0004	0.0036	0	0	0	0.0010	0	0	5.82e-05	9	154602	rs760742394	7.213e-05	5.746e-05	5.354e-05	9.143e-05	0.0011	5.927e-05	5.447e-05	0.0006	0.0005	0.0009	0.0004	6.277e-05	0	0	0.0011	3.913e-05	0.0002	1.313e-05	0.0004	0.0004	0.0002	0.0005	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	0.0008	0	0	0	0.0034	5.882e-05	0	0	0.758	0.03502	T	0.624	0.07342	T	.	.	.	.	.	.	0.000000	0.84330	D	0.048135	0.992612	0.81001	D	0.73	0.18813	N	2.26	0.17596	T	0.1	0.05810	N	0.193	0.21188	-1.0596	0.11855	T	0.036	0.15726	T	8	0.015716791	0.00330	T	0.032668	0.54431	D	0.151	0.39764	0.464	0.53404	0.591650888875	0.58842	.	.	.	.	.	.	.	0.190169	0.54462	T	-0.449238	0.01141	T	-0.448155	0.27902	T	0.0119732031854035	0.00188	T	0.839116	0.51273	T	0.2823339	0.51271	0.24372092	0.49822	0.2823339	0.51271	0.24372092	0.49821	-3.665	0.18803	T	0.07123860655258589	0.02819	0.102	0.17869	B	.	.	4.389001	0.67717	25.1	0.89728049701911639	0.19048	0.95280	0.64110	D	AEFBI	0.430575	0.49323	N	0.0624591842248355	0.44717	2.740744	0.251537370516267	0.52736	3.446546	0.991999269332924	0.32682	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.71	5.71	0.89031	3.892000	0.55947	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.247	0.98400	892	0.26670	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	804.43	34	chr12	66456330	.	C	T	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.013;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.369;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	9	0	1	0
chr12	66541927	66541927	C	T	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon3:c.G160A:p.V54I,GRIP1:NM_001366722:exon3:c.G160A:p.V54I,GRIP1:NM_001366723:exon3:c.G238A:p.V80I,GRIP1:NM_001366724:exon3:c.G238A:p.V80I,GRIP1:NM_001379345:exon3:c.G238A:p.V80I,GRIP1:NM_001379346:exon3:c.G160A:p.V54I,GRIP1:NM_001379347:exon3:c.G238A:p.V80I,GRIP1:NM_001379348:exon3:c.G238A:p.V80I,GRIP1:NM_001379349:exon3:c.G163A:p.V55I,GRIP1:NM_001379351:exon3:c.G163A:p.V55I,GRIP1:NM_021150:exon3:c.G160A:p.V54I	Fraser syndrome, Autosomal recessive	2	1495	25	0	0	25	0.00829187	.	.	.	389156	not_specified|not_provided|Fraser_syndrome_3|Abnormal_brain_morphology	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.236	0.0182897217256	0.0007	0.000399361	0.0012	0.0003	0.0014	0	0.0002	0.0016	0.0011	0.0013	0.001119	173	154602	rs199768740	0.0010	0.0010	0.0009	0.0010	0.0168	0.0009	0.0009	0.0141	0.0131	0.0003	0.0017	0.0063	0	3.744e-05	0.0168	0.0007	0.0020	0.0014	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0016	0.0072	0	0	0.0136	0.0009	0.0033	0.0008	0.006	0.61437	D	0.015	0.61642	D	1.0	0.90584	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.76	0.45711	L	0.82	0.48142	T	-0.69	0.24460	N	0.618	0.65930	-0.7051	0.60193	T	0.268	0.63950	T	9	0.010997534	0.00242	T	0.01829	0.40304	T	0.236	0.53931	.	.	0.431952752558	0.42816	0.3142456696913275	0.31337	0.415408216201	0.42198	0.571003317833	0.48820	T	0.28128	0.65400	T	-0.340646	0.05343	T	-0.29217	0.45547	T	0.827088177204132	0.48305	D	0.911709	0.69569	D	0.23895912	0.46780	0.115309395	0.27836	0.183039	0.39552	0.12022018	0.29014	-9.13	0.68530	D	0.370159556025135	0.46576	0.335	0.55590	B	.;.;.;.;.	.;.;.;.;.	3.536596	0.49643	22.8	0.997322703419811	0.82833	0.98409	0.82480	D	AEFI	0.912047	0.87216	D	0.434122937676274	0.63307	4.562121	0.345096248019264	0.58213	3.990521	0.999999982334639	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.905000	0.86479	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:1.0:0.0:0.0	19.465	0.94927	721	0.55360	.;PDZ domain;PDZ domain;PDZ domain;PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.025253	0.013587	0.011696	0.000000	0.008621	0.000000	0.003788	0.05	1170.43	33	chr12	66541927	.	C	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-1.736;SOR=0.751	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1137	9	0	1	0
chr12	68302665	68302665	G	A	exonic	MDM1	.	stopgain	MDM1:NM_001354974:exon11:c.C1087T:p.R363X,MDM1:NM_001205028:exon12:c.C1822T:p.R608X,MDM1:NM_001354970:exon12:c.C1807T:p.R603X,MDM1:NM_001368282:exon12:c.C1117T:p.R373X,MDM1:NM_017440:exon12:c.C1927T:p.R643X,MDM1:NM_001354969:exon13:c.C1957T:p.R653X,MDM1:NM_001354972:exon13:c.C1117T:p.R373X,MDM1:NM_001354973:exon13:c.C1117T:p.R373X,MDM1:NM_001354971:exon14:c.C1117T:p.R373X	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	9.078e-05	0.0005	8.702e-05	0	0	1.501e-05	0	0.0002	7.12e-05	11	154602	rs147627177	3.216e-05	3.215e-05	2.587e-05	3.851e-05	0.0008	2.478e-05	2.221e-05	0.0006	0.0005	0.0008	2.236e-05	0	0	0	0.0002	3.598e-06	8.281e-05	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.55e-05	0	0	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.047063	0.23379	N	0.472153	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.242	0.27316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210491	0.74876	D	0.428742	0.93010	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.435770	0.96514	36	0.9959924320476925	0.74101	0.07053	0.13079	N	AEFBI	0.072795	0.14540	N	0.414936253841947	0.62242	4.437068	0.107702361427582	0.44940	2.766306	0.00833582406647327	0.11656	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	2.88	0.32617	0.829000	0.27102	3.538000	0.38989	0.676000	0.76740	0.005000	0.17040	1.000000	0.68203	0.766000	0.36367	0.1636:0.0:0.676:0.1603	5.899	0.18198	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	322.43	34	chr12	68302665	.	G	A	322.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=342;ExcessHet=0;FS=3.089;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.361;SOR=1.383	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,880	9	0	1	0
chr12	69610255	69610255	A	G	exonic	LRRC10	.	nonsynonymous SNV	LRRC10:NM_201550:exon1:c.T584C:p.I195T	.	429	1081	12	0	0	12	0.00551978	.	.	.	462464	not_provided|Dilated_Cardiomyopathy,_Dominant	MedGen:C3661900|MedGen:CN239310	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.540	.	0.0044	0.00199681	0.0056	0.0008	0.0027	0.0001	0.0103	0.0074	0.0044	0.0043	0.0053557	828	154602	rs151080979	0.0057	0.0057	0.0057	0.0057	0.0061	0.0056	0.0055	0.0060	0.0060	0.0010	0.0022	0.0005	0.0006	0.0101	0.0050	0.0061	0.0057	0.0046	0.0039	0.0039	0.0034	0.0044	0.0055	0.0036	0.0035	0.0051	0.0049	0.0009	0	0.0014	0.0006	0.0004	0.0121	0.0102	0.0055	0.0028	0.0039	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.796	0.58006	P	0.000000	0.84330	D	0.043669	0.999993	0.58761	D	2.6	0.76081	M	1.67	0.27331	T	-3.6	0.69357	D	0.779	0.77601	-0.9014	0.47846	T	0.115	0.40717	T	10	0.012428105	0.00267	T	.	.	.	0.540	0.80782	.	.	0.408579541211	0.40476	0.6275222854585064	0.62685	0.75651630784	0.64033	0.563143730164	0.47711	T	0.594039	0.86892	D	-0.151175	0.28128	T	0.0166099	0.71410	D	0.018153014950306	0.00537	T	0.862314	0.55722	D	0.52290046	0.68426	0.53892016	0.73353	0.52290046	0.68427	0.53892016	0.73354	-10.074	0.74354	D	.	.	0.783	0.76501	P	.	.	4.598860	0.72823	25.9	0.99804682851977811	0.88906	0.98988	0.89600	D	AEFBI	0.944990	0.95274	D	0.730834733281675	0.81654	7.573107	0.72869220511283	0.84556	8.325322	0.999999997496016	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.63	5.63	0.86108	9.246000	0.94587	11.100000	0.86102	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.861000	0.40843	1.0:0.0:0.0:0.0	16.137	0.81305	804	0.43891	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.005435	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	1078.43	35	chr12	69610255	.	A	G	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.553;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-0.062;SOR=0.74	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1090,0,1483	9	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	279.11	50	chr12	70329450	.	T	C	279.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.318;DP=612;ExcessHet=0.2348;FS=251.157;InbreedingCoeff=-0.3356;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=-0.042;SOR=6.931	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:41,0:41:0:.:.:0,0,851:.	2	0	2	6
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	283.04	50	chr12	70329451	.	G	A	283.04	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.818;DP=605;ExcessHet=0.2348;FS=258.281;InbreedingCoeff=-0.3333;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.45;ReadPosRankSum=0.036;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:41,0:41:0:.:.:0,0,851:.	2	0	2	6
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	339.01	50	chr12	70635944	.	G	A	339.01	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.055;DP=680;ExcessHet=1.5895;FS=383.437;InbreedingCoeff=-0.3405;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.752;SOR=9.735	GT:AD:DP:GQ:PL	0/0:58,0:58:67:0,67,1171	4	0	4	2
chr12	71577986	71577986	C	G	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon13:c.C1198G:p.L400V,LGR5:NM_001277227:exon13:c.C1054G:p.L352V,LGR5:NM_003667:exon14:c.C1270G:p.L424V	.	433	1058	26	5	0	36	0.0167286	.	.	.	725271	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.331	.	0.0052	0.0071885	0.0074	0.0011	0.0016	0.0005	0.0065	0.0071	0.0143	0.0202	0.0069533	1075	154602	rs138215571	0.0065	0.0066	0.0059	0.0071	0.0216	0.0064	0.0063	0.0207	0.0204	0.0007	0.0022	0.0010	0.0003	0.0055	0.0132	0.0060	0.0072	0.0216	0.0049	0.0049	0.0046	0.0052	0.0228	0.0046	0.0045	0.0193	0.0180	0.0011	0	0.0039	0.0006	0.0004	0.0051	0.0136	0.0065	0.0118	0.0228	0.003	0.68238	D	0.005	0.72224	D	0.998	0.73220	D	0.98	0.74843	D	0.000287	0.46274	D	0.000000	0.96767	0.38609	D	3.065	0.87014	M	3.5	0.66113	T	-2.43	0.55339	N	0.764	0.81162	-0.0696	0.80789	T	0.386	0.74136	T	10	0.007958859	0.00181	T	.	.	.	0.331	0.65325	.	.	0.935978234382	0.93531	0.7107525724361232	0.71017	0.344829867764	0.36407	0.516217410564	0.41094	T	0.456447	0.79521	T	-0.0760579	0.40353	T	0.134228	0.79166	D	0.0618834212141487	0.07462	T	0.835216	0.84482	T	0.6065306	0.73042	0.33984563	0.59744	0.6065306	0.73043	0.33984563	0.59743	-8.579	0.64950	D	.	.	0.152	0.39999	B	.;.;.	.;.;.	3.077795	0.41394	21.3	0.99826733912632593	0.90939	0.91336	0.53328	D	AEFBCI	0.519773	0.54491	D	0.602347789383223	0.73322	5.94738	0.507271652457146	0.68478	5.225638	0.195574354562646	0.18054	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.39	0.52211	0.971000	0.28993	3.258000	0.37072	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.952000	0.50033	0.0:0.8349:0.0:0.1651	9.556	0.38506	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.010101	0.006793	0.005848	0.000000	0.025862	0.015244	0.015152	0.15	4632.45	36	chr12	71577986	.	C	G	4632.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.166;DP=652;ExcessHet=0.7463;FS=1.104;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.084;SOR=0.81	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1067	7	0	3	0
chr12	71584429	71584429	G	C	exonic	LGR5	.	nonsynonymous SNV	LGR5:NM_001277226:exon17:c.G2347C:p.V783L,LGR5:NM_001277227:exon17:c.G2203C:p.V735L,LGR5:NM_003667:exon18:c.G2419C:p.V807L	.	419	1102	0	1	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00691056198974	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1197841979	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	1.973e-05	1.971e-05	1.286e-05	2.694e-05	4.411e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.229	0.18956	T	0.406	0.14961	T	0.018	0.17786	B	0.028	0.21332	B	0.004786	0.33389	N	0.207336	0.939625	0.37267	D	0.955	0.23872	L	-0.56	0.71187	T	-0.88	0.25118	N	0.223	0.30347	-0.8205	0.53902	T	0.204	0.56155	T	10	0.22058952	0.38760	T	0.006911	0.18289	T	0.045	0.12272	0.456	0.52102	0.874189278319	0.87295	0.5358408385700676	0.53509	0.0571578602382	0.06324	0.463468670845	0.33785	T	0.093357	0.39194	T	-0.109036	0.34928	T	-0.394399	0.34036	T	0.569681823253632	0.35222	D	0.889511	0.72788	D	0.12282577	0.28855	0.1372447	0.32810	0.12282577	0.28855	0.1372447	0.32809	-6.622	0.52959	T	.	.	0.180	0.42022	B	.;.;.	.;.;.	2.577022	0.33407	19.33	0.98549142193313599	0.42820	0.81674	0.41031	D	AEFBHCI	.	.	.	-0.170340255596332	0.34374	1.961174	0.0389806947868419	0.41542	2.497545	0.929367184938469	0.26965	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	6.06	5.16	0.70563	3.572000	0.53593	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7289:0.2711	14.247	0.65540	880	0.29376	GPCR, rhodopsin-like, 7TM;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3065.43	34	chr12	71584429	.	G	C	3065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=542;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.67;ReadPosRankSum=-0.692;SOR=0.577	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	9	0	1	0
chr12	72272710	72272710	A	C	exonic	TRHDE	.	nonsynonymous SNV	TRHDE:NM_013381:exon1:c.A67C:p.K23Q	.	326	1195	1	0	0	1	0.000418235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484330967	3.188e-06	4.125e-06	3.102e-06	3.279e-06	2.992e-06	7.5e-07	5e-07	8e-07	2.2e-07	0	0	0	0	0	0	2.992e-06	1.908e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	81.46	13	chr12	72272710	.	A	C	81.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=113;ExcessHet=0;FS=3.222;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.43;ReadPosRankSum=0;SOR=0.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:21:.:.:0,21,315:.	9	0	1	0
chr12	75321474	75321475	TA	-	exonic	CAPS2	.	stopgain	CAPS2:NM_001355026:exon2:c.135_136del:p.Y45*,CAPS2:NM_001286547:exon5:c.300_301del:p.Y100*,CAPS2:NM_001355024:exon5:c.300_301del:p.Y100*,CAPS2:NM_001355027:exon5:c.192_193del:p.Y64*,CAPS2:NM_001355025:exon6:c.192_193del:p.Y64*,CAPS2:NM_032606:exon6:c.450_451del:p.Y150*,CAPS2:NM_001355023:exon7:c.414_415del:p.Y138*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0006	0	0	0.0016	0	0.0013	0	0.0001	0.0001035	16	154602	rs562235427	0.0004	0.0004	0.0004	0.0004	0.0072	0.0003	0.0003	0.0065	0.0062	0	0	0.0078	0.0072	0	0	3.07e-05	0.0004	0.0001	0.0003	0.0003	0.0004	0.0002	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0	0.0063	0.0041	0	0	2.943e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1550.39	35	chr12	75321473	.	CTA	C	1550.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=413;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-0.534;SOR=0.643	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1218	9	0	1	0
chr12	75391267	75391267	G	A	exonic	GLIPR1L2	.	nonsynonymous SNV	GLIPR1L2:NM_001270396:exon1:c.G151A:p.V51I,GLIPR1L2:NM_152436:exon1:c.G151A:p.V51I	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00400623964211	0.0021	0.000399361	0.0026	0.0006	0.0015	0	0.0017	0.0040	0.0033	0.0007	0.0024321	376	154602	rs146467128	0.0030	0.0030	0.0031	0.0030	0.0047	0.0030	0.0029	0.0033	0.0033	0.0006	0.0018	0.0076	2.519e-05	0.0013	0.0047	0.0034	0.0030	0.0006	0.0021	0.0021	0.0022	0.0020	0.0036	0.0019	0.0019	0.0032	0.0031	0.0005	0	0.0009	0.0075	0	0.0007	0.0034	0.0036	0.0038	0.0002	0.175	0.22400	T	0.176	0.29843	T	0.086	0.24919	B	0.008	0.13708	B	0.105615	0.19650	N	0.513006	1	0.81001	D	0.695	0.17993	N	2.99	0.09262	T	-0.78	0.23590	N	0.195	0.22098	-0.9926	0.31933	T	0.016	0.06473	T	10	0.003818214	0.00072	T	0.004006	0.09493	T	0.014	0.01968	.	.	0.270001397563	0.26616	0.22744089038220763	0.22659	0.0379314049417	0.04027	0.466479957104	0.34198	T	0.01303	0.11342	T	-0.51654	0.00461	T	-0.516223	0.20678	T	0.0304025773741608	0.02052	T	0.611839	0.25562	T	0.055617258	0.10834	0.09886479	0.23584	0.055617258	0.10833	0.09886479	0.23584	-3.799	0.21373	T	.	.	0.115	0.23535	B	.;.;.	.;.;.	1.938200	0.24616	16.46	0.98798855272062636	0.46413	0.36009	0.25434	N	ALL	0.083016	0.16816	N	-0.605943996161877	0.18765	0.9768618	-0.483843414062275	0.22598	1.228215	0.999999999999999	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.77	2.88	0.32617	0.956000	0.28799	3.523000	0.38910	-0.119000	0.14319	0.681000	0.28448	0.996000	0.32793	0.940000	0.48062	0.1167:0.0:0.8833:0.0	7.532	0.26858	894	0.26265	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.007576	0.05	1730.43	41	chr12	75391267	.	G	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=478;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.907;SOR=0.622	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	9	0	1	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T,NAP1L1:NM_001307924:exon6:c.T425C:p.I142T,NAP1L1:NM_001330231:exon6:c.T425C:p.I142T,NAP1L1:NM_004537:exon6:c.T425C:p.I142T,NAP1L1:NM_139207:exon6:c.T425C:p.I142T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	934	0.15400	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	107.05	33	chr12	76059802	.	A	G	107.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.031;DP=518;ExcessHet=0;FS=115.683;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-0.066;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:87:.:.:0,87,1031:.	8	0	1	1
chr12	79621147	79621147	T	C	exonic	PAWR	.	nonsynonymous SNV	PAWR:NM_001354732:exon3:c.A577G:p.I193V,PAWR:NM_001354733:exon3:c.A577G:p.I193V,PAWR:NM_002583:exon3:c.A577G:p.I193V	.	424	1041	52	5	0	62	0.0289179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	0.0013	0.00858626	0.0061	0.0002	0.0026	0	0.0005	0.0020	0.0088	0.0347	0.0053945	834	154602	rs114414439	0.0030	0.0030	0.0020	0.0041	0.0330	0.0030	0.0029	0.0320	0.0316	0.0004	0.0019	0.0059	0.0002	0.0004	0.0116	0.0009	0.0035	0.0330	0.0022	0.0022	0.0017	0.0027	0.0313	0.0020	0.0019	0.0272	0.0257	0.0002	0	0.0022	0.0069	0.0002	0.0007	0.0136	0.0014	0.0028	0.0313	0.408	0.10212	T	0.889	0.03143	T	0.001	0.07471	B	0.003	0.08700	B	0.004962	0.33218	N	0.295460	0.843411	0.28599	N	0.955	0.23872	L	2.33	0.16492	T	-0.4	0.13805	N	0.084	0.06059	-1.0162	0.24948	T	0.053	0.22384	T	9	0.0024989247	0.00038	T	.	.	.	0.009	0.00846	.	.	0.152612264143	0.14878	0.04010957006196938	0.03956	0.357847506727	0.37495	0.317540466785	0.13048	T	0.253372	0.62388	T	-0.60912	0.00128	T	-0.622668	0.10977	T	0.00117452984299329	0.00011	T	0.583942	0.21221	T	0.012372446	0.00032	0.021040784	0.00170	0.012372446	0.00032	0.021040784	0.00170	-2.672	0.07071	T	.	.	0.073	0.04764	B	.	.	0.441101	0.08112	4.841	0.60576393731601175	0.06497	0.19118	0.20535	N	AEFBI	0.053732	0.09706	N	-0.324694081356762	0.28212	1.554285	-0.319452404254109	0.27471	1.524549	0.0945339958991377	0.16207	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	1.55	0.22356	0.298000	0.18874	-0.056000	0.12484	-0.112000	0.15009	0.469000	0.26714	0.003000	0.18671	0.936000	0.47498	0.0:0.3588:0.0:0.6412	8.495	0.32282	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.000000	0.006793	0.008772	0.000000	0.008621	0.006098	0.026515	0.05	921.43	40	chr12	79621147	.	T	C	921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.532;DP=441;ExcessHet=0;FS=1.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.372;SOR=0.955	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr12	79796908	79796908	T	C	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon16:c.A2167G:p.T723A,PPP1R12A:NM_001143886:exon17:c.A2074G:p.T692A,PPP1R12A:NM_002480:exon17:c.A2335G:p.T779A,PPP1R12A:NM_001143885:exon18:c.A2335G:p.T779A,PPP1R12A:NM_001244990:exon18:c.A2335G:p.T779A	.	432	1078	11	1	0	13	0.00599355	.	.	.	1617562	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00487012770318	.	0.00159744	0.0015	0	0.0003	0	0	0.0003	0.0022	0.0094	0.0012419	192	154602	rs201175104	0.0006	0.0006	0.0004	0.0008	0.0083	0.0006	0.0006	0.0078	0.0076	0	0.0004	3.831e-05	2.525e-05	0	0.0033	0.0001	0.0008	0.0083	0.0003	0.0003	0.0002	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	0	0	0.0001	0	0	0	0.0034	0.0001	0	0.0060	0.117	0.31682	T	0.304	0.23570	T	0.0	0.16609	B	0.0	0.16012	B	0.012556	0.29135	N	0.403521	0.880034	0.44417	D	1.18	0.29980	L	1.21	0.37746	T	-1.66	0.42575	N	0.106	0.13198	-1.0695	0.09523	T	0.049	0.21026	T	10	0.0052392483	0.00114	T	0.00487	0.12224	T	0.018	0.03083	.	.	0.334371577756	0.33041	0.14743659216693095	0.14665	0.128782013625	0.14521	0.346563100815	0.17415	T	0.236569	0.60407	T	-0.518218	0.00451	T	-0.512174	0.21092	T	0.0133029066152891	0.00238	T	0.734227	0.35417	T	0.04064586	0.05840	0.04548814	0.06130	0.04064586	0.05840	0.04548814	0.06129	-4.452	0.31227	T	.	.	0.064	0.02639	B	.;.;.;.;.	.;.;.;.;.	2.155080	0.27454	17.47	0.98668010789882676	0.44428	0.72737	0.35593	D	AEFBI	0.097586	0.19680	N	-0.361977633314355	0.26835	1.467603	-0.184481747318355	0.32106	1.823349	0.0292048284316731	0.13874	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	3.34	0.37357	0.543000	0.22945	1.497000	0.26929	0.665000	0.62972	0.888000	0.31154	1.000000	0.68203	0.998000	0.85391	0.122:0.1361:0.0:0.7419	6.524	0.21486	796	0.45353	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.007576	0.1	1698.14	35	chr12	79796908	.	T	C	1698.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.27;DP=446;ExcessHet=0.2348;FS=0.62;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.53;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1082	8	0	2	0
chr12	79797277	79797277	T	G	exonic	PPP1R12A	.	nonsynonymous SNV	PPP1R12A:NM_001244992:exon15:c.A2042C:p.K681T,PPP1R12A:NM_001143886:exon16:c.A1949C:p.K650T,PPP1R12A:NM_002480:exon16:c.A2210C:p.K737T,PPP1R12A:NM_001143885:exon17:c.A2210C:p.K737T,PPP1R12A:NM_001244990:exon17:c.A2210C:p.K737T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0163193990294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.966e-07	6.842e-07	1.382e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.11370	T	0.565	0.13252	T	0.319	0.36006	B	0.127	0.38982	B	0.000015	0.62929	D	0.063945	0.999906	0.58761	D	2.34	0.67151	M	1.19	0.38236	T	-1.3	0.35399	N	0.462	0.55626	-1.0780	0.07741	T	0.098	0.36677	T	10	0.19913542	0.35911	T	0.016319	0.37519	T	0.099	0.28413	0.22	0.14224	0.479049276626	0.47532	0.18928329560023988	0.18846	0.626975998192	0.56810	0.765670061111	0.76775	T	0.221108	0.58459	T	-0.0475216	0.44823	T	-0.306038	0.44083	T	0.954628169536591	0.64310	D	0.854814	0.54791	D	0.10496419	0.24816	0.07307507	0.15839	0.10496419	0.24816	0.07307507	0.15838	-6.661	0.51516	T	.	.	0.593	0.68570	P	.;.;.;.;.;.	.;.;.;.;.;.	4.456324	0.69317	25.4	0.99658804222450847	0.77820	0.97976	0.78572	D	AEGBI	0.648061	0.62301	D	0.0140011898036551	0.42493	2.56123	0.123401415165804	0.45748	2.832544	0.981930317335731	0.30329	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.6	4.45	0.53365	4.662000	0.61220	6.195000	0.54818	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0726:0.0:0.9274	11.219	0.48069	795	0.45444	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	580.43	38	chr12	79797277	.	T	G	580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=387;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=1.38;SOR=1.058	GT:AD:DP:GQ:PL	0/1:24,24:48:99:592,0,533	9	0	1	0
chr12	80310704	80310704	A	G	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon30:c.A3400G:p.I1134V,OTOGL:NM_173591:exon30:c.A3400G:p.I1134V,OTOGL:NM_001378610:exon33:c.A3400G:p.I1134V,OTOGL:NM_001368062:exon34:c.A3265G:p.I1089V	Deafness, autosomal recessive 84B, Autosomal recessive	12	1503	6	1	0	8	0.00265428	.	.	.	230386	not_provided|not_specified|Inborn_genetic_diseases|OTOGL-related_disorder	MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0232263080475	0.0030	0.00219649	0.0025	0.0002	0.0024	0	0.0003	0.0039	0.0034	0.0003	0.0026132	404	154602	rs117462138	0.0037	0.0037	0.0038	0.0036	0.0043	0.0036	0.0036	0.0042	0.0042	0.0007	0.0020	0.0074	0	0.0006	0.0024	0.0043	0.0029	0.0003	0.0024	0.0024	0.0026	0.0021	0.0039	0.0022	0.0021	0.0035	0.0034	0.0007	0	0.0023	0.0040	0	0.0007	0.0034	0.0039	0.0038	0.0008	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999437	0.21199	N	.	.	.	-0.92	0.75108	T	0.41	0.03407	N	0.137	0.13484	-0.9837	0.34140	T	0.066	0.27121	T	7	0.015127599	0.00318	T	0.023226	0.46179	T	0.099	0.28413	.	.	0.112648838833	0.10856	0.18592276383119322	0.18510	0.0211005451595	0.02089	0.312833666801	0.12336	T	.	.	.	-0.560979	0.00250	T	-0.574439	0.15044	T	0.00659066536948768	0.00074	T	0.464953	0.14626	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.02960	B	.;.;.	.;.;.	0.454422	0.08244	4.985	0.43489571834481894	0.03278	0.22786	0.21862	N	AEFBI	0.097106	0.19593	N	-0.657167132112421	0.17252	0.8861476	-0.491519744108896	0.22386	1.215648	1.76905571507329E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.06	0.396	0.15532	1.010000	0.29500	1.237000	0.25081	-0.156000	0.11795	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.3345:0.1006:0.5649:0.0	8.403	0.31758	575	0.70088	Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich;.;Uncharacterised domain, cysteine-rich|von Willebrand factor, type D domain|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001554	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2553.43	37	chr12	80310704	.	A	G	2553.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.836;DP=513;ExcessHet=0;FS=0.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.025;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr12	80333059	80333059	C	T	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon38:c.C4376T:p.T1459I,OTOGL:NM_173591:exon38:c.C4376T:p.T1459I,OTOGL:NM_001378610:exon41:c.C4376T:p.T1459I,OTOGL:NM_001368062:exon42:c.C4241T:p.T1414I	Deafness, autosomal recessive 84B, Autosomal recessive	9	1512	1	0	0	1	0.000330579	.	.	.	3374410	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.164	0.00507259238064	.	0.000399361	0.0002	0	0.0006	0	0	3.301e-05	0	0.0006	8.41e-05	13	154602	rs557387942	8.422e-05	8.824e-05	6.445e-05	0.0001	0.0005	7.201e-05	6.745e-05	0.0004	0.0003	0	6.921e-05	0	0	0	0.0003	6.519e-05	8.345e-05	0.0005	7.223e-05	7.217e-05	7.709e-05	6.715e-05	0.0006	3.968e-05	3.125e-05	0.0002	8.996e-05	7.217e-05	0	6.543e-05	0	0	0	0	5.88e-05	0	0.0006	0.085	0.32769	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999997	0.18878	N	.	.	.	2.34	0.16351	T	-1.97	0.45587	N	0.664	0.67304	-1.0479	0.14988	T	0.041	0.17530	T	7	0.06475231	0.08635	T	0.005073	0.12846	T	0.164	0.42212	0.561	0.68093	0.136095386433	0.13204	0.5322375372344672	0.53148	0.0268335966883	0.02741	0.582905709743	0.50495	T	.	.	.	-0.246867	0.14485	T	-0.2327	0.51509	T	0.113664755059182	0.13799	T	0.542746	0.18617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.39748	B	.;.;.	.;.;.	2.980520	0.39752	21.0	0.99336022618205855	0.59973	0.49735	0.28501	N	AEFDI	0.167274	0.29393	N	-0.00943482081096755	0.41428	2.477762	0.0102987327194928	0.40192	2.39477	0.007067633516807	0.11376	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	3.030000	0.49407	6.888000	0.56832	0.599000	0.40250	0.694000	0.28569	1.000000	0.68203	0.727000	0.35000	0.0:1.0:0.0:0.0	13.629	0.61654	588	0.69043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1447.43	137	chr12	80333059	.	C	T	1447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=484;ExcessHet=0;FS=3.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.845;SOR=0.52	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	9	0	1	0
chr12	80355790	80355790	G	A	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon47:c.G5621A:p.G1874D,OTOGL:NM_173591:exon47:c.G5621A:p.G1874D,OTOGL:NM_001378610:exon50:c.G5621A:p.G1874D,OTOGL:NM_001368062:exon51:c.G5486A:p.G1829D	Deafness, autosomal recessive 84B, Autosomal recessive	8	1490	23	1	0	25	0.00831947	.	.	.	491714	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0118214722881	0.0003	0.000199681	0.0003	0	8.732e-05	0	0	0.0003	0.0011	0.0012	0.0002587	40	154602	rs377364362	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0	6.712e-05	0	2.52e-05	3.745e-05	0.0028	0.0001	0.0004	0.0012	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.701e-05	0.0002	0.0001	2.407e-05	0	0.0001	0	0	0	0.0034	0.0003	0	0.0006	0.053	0.38863	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	0.999564	0.20970	N	.	.	.	2.5	0.14408	T	-2.25	0.50337	N	0.533	0.56145	-1.0140	0.25656	T	0.021	0.08639	T	7	0.033018142	0.01467	T	0.011821	0.29821	T	0.120	0.33359	.	.	0.154104182512	0.14974	0.48682869408756885	0.48602	0.122508711524	0.13806	0.471455991268	0.34881	T	.	.	.	-0.447438	0.01169	T	-0.456023	0.27033	T	0.0750707633783485	0.09345	T	0.775922	0.40781	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.41813	B	.;.;.	.;.;.	3.771530	0.54171	23.5	0.99743260327228012	0.83703	0.76583	0.37571	D	AEFBCI	0.494054	0.53001	N	0.0124108583596346	0.42420	2.555472	0.123666918447924	0.45762	2.833674	0.990502649650902	0.32175	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.447301	0.06993	0	.	.	5.03	4.08	0.46880	4.133000	0.57743	8.102000	0.76560	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0:0.2193:0.661:0.1196	9.908	0.40555	651	0.62880	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002596	0.000000	0.004076	0.003521	0.000000	0.000000	0.003067	0.003788	0.05	1171.43	34	chr12	80355790	.	G	A	1171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.835;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.818;SOR=0.677	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr12	80542259	80542259	T	G	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon22:c.T3616G:p.L1206V	Deafness, autosomal recessive 84A, Autosomal recessive	5	1516	1	0	0	1	0.000329707	.	.	.	1287522	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.269	0.00630051043232	.	.	0.0002	0	0	0	0	0.0002	0.0053	0	2.59e-05	4	154602	rs755745017	6.864e-05	6.567e-05	6.49e-05	7.249e-05	0.0007	5.744e-05	5.338e-05	0.0004	0.0003	0	0.0006	0.0005	0	0	0.0007	4.451e-05	0.0002	2.53e-05	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	0.0001	0.0010	0.0008	0	0	0.0014	0.0003	0	0	0	0.0001	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.975087	0.39159	D	.	.	.	.	.	.	.	.	.	0.522	0.58798	-0.7826	0.56155	T	0.208	0.56785	T	8	0.07531297	0.11623	T	0.006301	0.16551	T	.	.	0.53	0.63707	0.0611884634855	0.05136	0.25949205043624846	0.25863	.	.	0.47497355938	0.35366	T	0.025674	0.19153	T	-0.337664	0.05552	T	-0.346962	0.39552	T	0.115116841838056	0.13945	T	0.836316	0.50742	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.36053	B	.;.;.	.;.;.	1.979033	0.25141	16.65	0.98756559071947414	0.45739	0.73280	0.35847	D	AEFI	0.143002	0.26560	N	-0.350986577399369	0.27235	1.492677	-0.361184189774662	0.26165	1.443453	0.292823379824279	0.19106	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	-2.08	0.06852	0.368000	0.20132	-0.136000	0.11567	-0.203000	0.08628	0.291000	0.25242	0.015000	0.20450	0.993000	0.69303	0.0:0.4405:0.0:0.5595	11.865	0.51766	902	0.24074	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001534	0.000000	0.000000	0.004808	0.000000	0.000000	0.000000	0.000000	0.05	837.43	65	chr12	80542259	.	T	G	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.814;DP=550;ExcessHet=0;FS=0.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.206;SOR=0.587	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	9	0	1	0
chr12	82399261	82399261	A	G	exonic	METTL25	.	nonsynonymous SNV	METTL25:NM_001319675:exon4:c.A737G:p.N246S,METTL25:NM_032230:exon4:c.A998G:p.N333S,METTL25:NM_001347934:exon5:c.A842G:p.N281S	.	444	1076	2	0	0	2	0.000928505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00659430235805	.	.	5.791e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs756275185	6.569e-05	6.567e-05	6.808e-05	6.327e-05	0.0050	5.496e-05	5.108e-05	0.0036	0.0031	0	6.712e-05	0.0008	2.526e-05	0	0.0050	2.249e-05	0.0003	1.16e-05	2.626e-05	2.625e-05	2.57e-05	2.686e-05	2.405e-05	8.14e-06	5.14e-06	.	.	2.405e-05	0	0	0.0003	0	0	0.0068	0	0	0	0.845	0.02774	T	0.606	0.07791	T	0.002	0.09854	B	0.007	0.12992	B	0.334711	0.14057	N	0.745147	1	0.08975	N	0.49	0.13296	N	1.61	0.28391	T	-0.2	0.10136	N	0.032	0.00825	-0.9842	0.34022	T	0.036	0.15378	T	10	0.03261143	0.01416	T	0.006594	0.17386	T	0.004	0.00165	0.192	0.10304	0.0401082797425	0.02173	0.19233553522075644	0.19151	0.016213409697	0.01556	0.210784077644	0.00845	T	0.001403	0.00865	T	-0.497732	0.00589	T	-0.755763	0.03267	T	0.014251233297508	0.00282	T	0.555444	0.19245	T	0.019747352	0.00512	0.018491797	0.00057	0.019747352	0.00512	0.018491797	0.00057	-2.663	0.06998	T	.	.	0.062	0.01271	B	.	.	-0.409761	0.02176	0.214	0.36018325929729655	0.02293	0.10490	0.15983	N	AEFBCI	0.052655	0.09418	N	-1.29823263890111	0.03697	0.1656253	-1.28812215849452	0.04591	0.2168773	6.21131982046215E-5	0.04366	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	0.119	0.13989	0.008000	0.13095	0.218000	0.16040	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.5687:0.0:0.3112:0.1202	5.737	0.17339	920	0.19381	Methyltransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	715.43	40	chr12	82399261	.	A	G	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.364;SOR=0.646	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr12	82896304	82896304	G	A	exonic	TMTC2	.	nonsynonymous SNV	TMTC2:NM_001320321:exon2:c.G406A:p.V136I,TMTC2:NM_001320322:exon3:c.G1141A:p.V381I,TMTC2:NM_152588:exon3:c.G1141A:p.V381I	.	429	1014	75	4	0	83	0.0393179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0055	0.0115815	0.0112	0.0010	0.0031	0	0.0056	0.0089	0.0132	0.0408	0.0102715	1588	154602	rs35725509	0.0081	0.0081	0.0070	0.0093	0.0393	0.0080	0.0080	0.0382	0.0378	0.0012	0.0033	0.0130	7.557e-05	0.0046	0.0355	0.0063	0.0085	0.0393	0.0066	0.0066	0.0061	0.0071	0.0455	0.0062	0.0061	0.0405	0.0386	0.0013	0	0.0056	0.0130	0	0.0050	0.0272	0.0076	0.0071	0.0455	0.445	0.09600	T	0.397	0.15157	T	0.0	0.02946	B	0.0	0.04355	B	0.893502	0.07310	N	1.043000	1	0.08975	N	-0.14	0.04484	N	0.77	0.61089	T	-0.11	0.09135	N	0.031	0.03392	-1.0100	0.26917	T	0.067	0.27674	T	10	0.0032096207	0.00054	T	.	.	.	0.089	0.25827	.	.	.	.	0.4571219011695271	0.45630	0.120313219127	0.13549	0.259975850582	0.04888	T	0.001475	0.07715	T	-0.57472	0.00207	T	-0.569046	0.15538	T	0.00167859473731369	0.00017	T	0.385361	0.09439	T	0.029437745	0.02440	0.030641649	0.01546	0.029437745	0.02440	0.030641649	0.01546	-3.77	0.20357	T	.	.	0.063	0.01470	B	.;.;.	.;.;.	0.634495	0.10029	6.781	0.79113060385662604	0.12596	0.32747	0.24661	N	AEFBCI	0.178763	0.30603	N	-0.971895891915682	0.09207	0.434826	-0.862844228796074	0.12979	0.6707715	0.0213079614217698	0.13337	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.86	4.98	0.65679	1.657000	0.36981	2.077000	0.30474	-0.667000	0.04321	0.023000	0.19925	0.033000	0.21346	0.102000	0.18378	0.1418:0.0:0.7159:0.1423	6.911	0.23515	793	0.45818	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028701	0.005051	0.024457	0.043860	0.000000	0.068966	0.024390	0.018939	0.1	4198.14	34	chr12	82896304	.	G	A	4198.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.248;DP=673;ExcessHet=0.2348;FS=0.364;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.461;SOR=0.727	GT:AD:DP:GQ:PL	0/1:111,86:197:99:1931,0,2658	8	0	2	0
chr12	85027922	85027922	C	T	exonic	TSPAN19	.	nonsynonymous SNV	TSPAN19:NM_001100917:exon4:c.G241A:p.E81K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0649512470713	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191865318	8.391e-06	1.094e-05	9.705e-06	7.054e-06	0.0001	4.48e-06	3.53e-06	3.501e-05	2.117e-05	3.068e-05	0.0001	3.928e-05	2.578e-05	0	0	2.735e-06	1.688e-05	1.237e-05	2.63e-05	2.627e-05	5.141e-05	0	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.03	0.45393	D	0.193	0.28669	T	0.008	0.14655	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	2.265	0.64440	M	-1.46	0.80983	T	-3.68	0.70314	D	0.327	0.36779	-0.8159	0.54189	T	0.289	0.66104	T	9	0.3865534	0.54583	T	0.064951	0.69433	D	0.208	0.49714	0.772	0.89846	0.0666544352282	0.05500	0.3709435937602121	0.37008	0.0138822183601	0.01324	0.30561208725	0.11244	T	0.332344	0.70232	T	-0.0986282	0.36653	T	-0.379449	0.35787	T	0.0739902442990522	0.09201	T	0.578142	0.20837	T	0.14972763	0.34121	0.14735267	0.34874	0.14972763	0.34121	0.14735267	0.34873	-4.801	0.34603	T	.	.	0.174	0.38099	B	.;.	.;.	1.340411	0.17468	13.18	0.82526502845506489	0.14238	0.01874	0.05772	N	AEFBI	0.041113	0.06207	N	-1.35854494510219	0.03037	0.1350582	-1.41155050362419	0.03136	0.1456902	0.0269019477866073	0.13741	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.99	-1.66	0.07824	0.262000	0.18229	1.248000	0.25151	-0.991000	0.01849	0.166000	0.23880	0.820000	0.27118	0.024000	0.12247	0.0:0.7083:0.1457:0.146	6.565	0.21705	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	541.43	34	chr12	85027922	.	C	T	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.453;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=-0.249;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,990	9	0	1	0
chr12	85137906	85137906	T	G	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon19:c.T4266G:p.I1422M	.	438	1043	38	2	1	43	0.0197368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0074	0.0115815	0.0086	0.0092	0.0039	0.0015	0.0023	0.0077	0.0079	0.0218	0.0081823	1265	154602	rs61740224	0.0081	0.0082	0.0079	0.0084	0.0205	0.0080	0.0080	0.0197	0.0194	0.0120	0.0033	0.0097	0.0009	0.0034	0.0191	0.0075	0.0102	0.0205	0.0078	0.0078	0.0079	0.0078	0.0222	0.0075	0.0073	0.0188	0.0175	0.0106	0	0.0040	0.0049	0.0025	0.0020	0.0034	0.0075	0.0090	0.0222	0.066	0.36113	T	0.004	0.74150	D	0.993	0.65571	D	0.879	0.62418	P	.	.	.	.	0.893066	0.27846	N	0.49	0.13296	N	0.56	0.54540	T	-1.4	0.34596	N	0.201	0.22228	-0.9269	0.44588	T	0.129	0.43807	T	9	0.0058375597	0.00130	T	.	.	.	0.079	0.23065	.	.	0.574056412462	0.57073	0.24462733418689878	0.24376	0.0133742715398	0.01285	0.398845642805	0.24907	T	0.002421	0.01816	T	-0.551364	0.00286	T	-0.548516	0.17468	T	0.0402086683331908	0.03729	T	0.59804	0.22252	T	0.09143171	0.21423	0.15386857	0.36138	0.09143171	0.21423	0.15386857	0.36137	-5.201	0.38952	T	.	.	0.117	0.23814	B	.	.	2.304364	0.29492	18.14	0.93498086442423889	0.23303	0.83457	0.42573	D	AEI	0.204127	0.33059	N	0.21632193234321	0.51991	3.376164	0.224350590449569	0.51203	3.304788	9.71287062153123E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	3.24	0.36257	1.550000	0.35830	0.857000	0.22192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1238:0.0:0.8762	9.607	0.38806	880	0.29376	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	742.43	58	chr12	85137906	.	T	G	742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.237;DP=360;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-0.303;SOR=0.374	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	9	0	1	0
chr12	85280452	85280452	G	T	exonic	ALX1	.	nonsynonymous SNV	ALX1:NM_006982:exon1:c.G191T:p.R64L	.	6	1494	22	0	0	22	0.00730897	.	.	.	271706	ALX1-related_disorder|not_specified|Frontonasal_dysplasia_-_severe_microphthalmia_-_severe_facial_clefting_syndrome|not_provided	.|MedGen:CN169374|MONDO:MONDO:0013271,MedGen:C3150706,OMIM:613456,Orphanet:306542|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.509	0.0592499689239	0.0054	0.00159744	0.0044	0.0010	0.0017	0	0.0021	0.0067	0.0057	0.0021	0.0043531	673	154602	rs115596276	0.0064	0.0064	0.0066	0.0062	0.0076	0.0063	0.0062	0.0074	0.0074	0.0011	0.0031	0.0018	0	0.0023	0.0071	0.0076	0.0051	0.0027	0.0041	0.0041	0.0042	0.0040	0.0067	0.0038	0.0037	0.0062	0.0060	0.0012	0	0.0044	0.0014	0	0.0017	0.0068	0.0067	0.0047	0.0033	0.02	0.49613	D	0.649	0.06762	T	0.962	0.55554	D	0.931	0.66596	D	0.000540	0.43581	D	0.188276	0.999866	0.50061	D	1.245	0.31408	L	-2.99	0.92108	D	-0.68	0.19509	N	0.625	0.63968	0.146	0.84994	D	0.643	0.87544	D	10	0.01105988	0.00243	T	0.05925	0.67601	D	0.509	0.78910	.	.	0.967460082661	0.96711	0.44468052893882365	0.44386	0.448061787425	0.44649	0.61287778616	0.54722	T	0.079756	0.36204	T	0.0674731	0.60540	T	0.32773	0.89416	D	0.0354192323646426	0.02880	T	0.868713	0.57175	D	0.28739017	0.51750	0.3639303	0.61770	0.28739017	0.51749	0.3639303	0.61770	-2.971	0.09872	T	.	.	0.188	0.40586	B	.	.	3.782305	0.54387	23.5	0.98294295884140181	0.39983	0.88877	0.49021	D	AEFDGBHCI	0.564656	0.57136	D	0.345098627229354	0.58481	4.020615	0.42490286711759	0.63120	4.539627	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.179345	0.04352	3	0.273489	0.05413	2	.	.	5.48	5.48	0.80675	3.818000	0.55378	11.785000	0.96215	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.352	0.94383	700	0.57880	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005544	0.005102	0.009511	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1374.43	40	chr12	85280452	.	G	T	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.29;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr12	88060951	88060951	A	G	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon47:c.T6401C:p.I2134T	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	386	1115	18	3	0	24	0.0106477	.	.	.	177274	Intellectual_disability|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Senior-Loken_syndrome_6|not_specified|Leber_congenital_amaurosis|not_provided|Joubert_syndrome_5|Meckel_syndrome,_type_4|Meckel-Gruber_syndrome|Nephronophthisis|Joubert_syndrome	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MedGen:CN169374|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.406	.	0.0055	0.00579073	0.0147	0.0019	0.0014	0	0.0011	0.0191	0.0069	0.0195	0.0053816	832	154602	rs117852025	0.0075	0.0075	0.0072	0.0078	0.0163	0.0074	0.0074	0.0155	0.0152	0.0012	0.0024	0.0363	5.289e-05	0.0011	0.0163	0.0070	0.0100	0.0163	0.0053	0.0053	0.0054	0.0051	0.0137	0.0050	0.0049	0.0110	0.0101	0.0015	0	0.0018	0.0478	0.0008	0.0009	0.0102	0.0066	0.0062	0.0137	0.003	0.68238	D	0.019	0.59159	D	0.999	0.77913	D	0.964	0.71005	D	0.000003	0.62929	D	0.101317	0.99994	0.51968	D	1.975	0.53506	M	-0.9	0.74896	T	-1.88	0.43906	N	0.834	0.95021	-0.0647	0.80894	T	0.483	0.80270	T	10	0.009030223	0.00204	T	.	.	.	0.406	0.71869	.	.	0.875205848546	0.87398	0.34686869949352617	0.34600	0.378355118775	0.39249	0.710693120956	0.68693	T	0.476381	0.80704	T	-0.0341945	0.46804	T	0.189782	0.82556	D	0.0166690938146821	0.00426	T	0.847515	0.52873	T	0.16860478	0.37327	0.25384763	0.51040	0.19353971	0.41067	0.26356167	0.52163	-8.001	0.61077	D	0.7348488337888284	0.81667	0.347	0.56403	A	.;.;.	.;.;.	4.609159	0.73081	25.9	0.99875343345217849	0.95244	0.98733	0.86156	D	AEFBI	0.884967	0.81510	D	0.806607080363494	0.86520	8.911169	0.806839436661137	0.90263	10.32915	0.999996654593781	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	8.349000	0.89970	11.229000	0.90032	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	16.558	0.84362	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.015152	0.000000	0.009511	0.005882	0.050000	0.000000	0.036810	0.022727	0.05	707.43	87	chr12	88060951	.	A	G	707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.62;DP=457;ExcessHet=0;FS=7.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.13;ReadPosRankSum=1.19;SOR=0.259	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr12	88079219	88079219	C	T	exonic	CEP290	.	nonsynonymous SNV	CEP290:NM_025114:exon39:c.G5237A:p.R1746Q	Joubert syndrome 5, Autosomal recessive;Leber congenital amaurosis 10;Meckel syndrome 4, Autosomal recessive;Senior-Loken syndrome 6, Autosomal recessive	5	1461	53	3	0	59	0.019792	.	.	YES	131794	Meckel_syndrome,_type_4|Joubert_syndrome|Nephronophthisis|Meckel-Gruber_syndrome|not_specified|not_provided|Retinal_dystrophy|Kidney_disorder|Senior-Loken_syndrome_6|Leber_congenital_amaurosis_10|Bardet-Biedl_syndrome_14|Joubert_syndrome_5|Leber_congenital_amaurosis	MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0012433,MedGen:C1857779,OMIM:610189,Orphanet:3156|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755,Orphanet:65|MONDO:MONDO:0014442,MedGen:C2673874,OMIM:615991,Orphanet:110|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orphanet:2318|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.372	.	0.0073	0.0113818	0.0119	0.0024	0.0052	0.0070	0.0017	0.0082	0.0058	0.0441	0.0107696	1665	154602	rs61941020	0.0099	0.0100	0.0089	0.0109	0.0403	0.0098	0.0097	0.0392	0.0387	0.0018	0.0052	0.0065	0.0060	0.0029	0.0211	0.0085	0.0121	0.0403	0.0071	0.0071	0.0068	0.0074	0.0430	0.0068	0.0066	0.0381	0.0363	0.0017	0	0.0098	0.0055	0.0084	0.0025	0.0137	0.0080	0.0091	0.0430	0.221	0.18889	T	0.275	0.22016	T	0.466	0.36465	P	0.048	0.24975	B	0.000002	0.62929	D	0.056184	0.732881	0.33738	D	1.61	0.41143	L	0.0	0.91478	T	0.11	0.05917	N	0.078	0.28028	-0.4601	0.70064	T	0.241	0.60929	T	10	0.0040839016	0.00080	T	.	.	.	0.372	0.69102	.	.	.	.	0.13677737081922756	0.13601	0.0587496926462	0.06521	0.46582710743	0.34108	T	0.113382	0.43038	T	-0.258765	0.13044	T	-0.112339	0.62424	T	0.0160605788174674	0.00385	T	0.891311	0.62583	D	0.053998865	0.10300	0.056384906	0.10063	0.05842994	0.11753	0.064280845	0.12861	-3.233	0.12888	T	0.2024184062002529	0.26922	0.114	0.27252	B	.;.;.	.;.;.	3.444251	0.47929	22.5	0.99851851418650239	0.93102	0.66180	0.32989	D	AEFBI	0.129836	0.24816	N	-0.208458088981086	0.32787	1.852941	-0.00546298069500753	0.39467	2.340608	0.952729764345514	0.28032	0.732398	0.92422	0	0.653731	0.59785	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.19	4.28	0.50183	2.760000	0.47262	1.427000	0.26414	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.7111:0.0:0.2889	5.178	0.14473	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.017137	0.010204	0.013587	0.005848	0.000000	0.025862	0.012195	0.049242	0.05	514.43	28	chr12	88079219	.	C	T	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=311;ExcessHet=0;FS=4.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=2.26;SOR=0.202	GT:AD:DP:GQ:PL	0/0:32,0:32:84:0,84,1260	9	0	1	0
chr12	89523808	89523808	C	G	exonic	GALNT4;POC1B-GALNT4	.	nonsynonymous SNV	GALNT4:NM_003774:exon1:c.G742C:p.E248Q,POC1B-GALNT4:NM_001199781:exon3:c.G733C:p.E245Q	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0271437575307	.	0.000199681	0.0002	0	0	0	0	0	0	0.0026	0.0002458	38	154602	rs574777128	0.0001	0.0001	8.263e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	3.274e-05	0	0	0	0	0.0009	2.782e-05	0.0002	0.0019	7.878e-05	7.874e-05	6.423e-05	9.4e-05	0.0012	4.493e-05	3.509e-05	0.0005	0.0004	0	0	0	0	0	0	0.0034	7.348e-05	0	0.0012	0.141	0.25560	T	0.321	0.19073	T	0.961	0.55431	D	0.864	0.61462	P	.	.	.	.	1	0.81001	D	1.425	0.35738	L	0.24	0.59583	T	-0.6	0.18670	N	0.075	0.04913	-0.5747	0.65827	T	0.294	0.66555	T	9	0.020221353	0.00462	T	0.027144	0.49992	D	0.208	0.49714	.	.	0.818837503132	0.81712	0.37310838660680967	0.39182	0.548523735457	0.57051	0.456362783909	0.32813	T	0.054906	0.29856	T	-0.42278	0.01642	T	-0.384686	0.35173	T	0.181565202619574	0.19334	T	0.863714	0.56064	D	0.37732998	0.59122	0.31609908	0.57593	0.37732998	0.59123	0.31609908	0.57592	-4.535	0.31344	T	.	.	0.114	0.22644	B	.;.	.;.	3.712447	0.53010	23.3	0.99617160359294687	0.75172	0.96416	0.69031	D	AEFBCI	.	.	.	0.458763866468327	0.64700	4.730747	0.446830741138831	0.64513	4.708261	0.999999999995847	0.74766	0.542737	0.22433	0	0.627608	0.54475	0	0.658983	0.55881	0	0.638787	0.57140	0	.	.	5.45	5.45	0.79688	4.847000	0.62565	7.736000	0.67890	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.0:1.0:0.0:0.0	18.261	0.89973	859	0.33891	Glycosyltransferase 2-like;Glycosyltransferase 2-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2039.43	167	chr12	89523808	.	C	G	2039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=541;ExcessHet=0;FS=5.719;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.254;SOR=0.385	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr12	94149654	94149654	G	A	exonic	PLXNC1	.	nonsynonymous SNV	PLXNC1:NM_005761:exon1:c.G683A:p.G228D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.0905338337062	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362967623	2.065e-06	2.052e-06	1.369e-06	2.77e-06	0.0003	5.5e-07	1.5e-07	6.105e-05	2.526e-05	0	0	0	0	0	0.0003	9.024e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	0.19854	T	0.422	0.14034	T	0.007	0.14184	B	0.003	0.08700	B	0.566135	0.05452	N	1.235190	1	0.08975	N	0.695	0.17993	N	3.69	0.04114	T	-1.05	0.27463	N	0.209	0.23253	-0.9230	0.45141	T	0.015	0.06234	T	10	0.08215159	0.13527	T	0.090534	0.75537	D	0.093	0.26882	0.475	0.55182	0.401208672323	0.39738	0.7065292715869159	0.70594	1.70097506575	0.90296	0.45965591073	0.33263	T	0.029	0.20880	T	-0.215509	0.18610	T	-0.54734	0.17582	T	0.0394030399620533	0.03583	T	0.708229	0.31875	T	0.16172756	0.36202	0.15889303	0.37083	0.16172756	0.36201	0.15889303	0.37082	-3.705	0.19392	T	.	.	0.083	0.09191	B	.	.	2.114119	0.26909	17.28	0.94018786527330744	0.24124	0.02526	0.07033	N	AEFDGBCIJ	0.078782	0.15902	N	-0.653890755460574	0.17348	0.8918606	-0.669889955841798	0.17715	0.9431993	0.999999999457342	0.74766	0.59774	0.34471	0	0.52208	0.09955	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.04	0.868	0.18228	0.513000	0.22476	2.102000	0.30609	0.575000	0.29119	0.000000	0.06391	0.067000	0.22148	0.997000	0.79791	0.1303:0.3201:0.2247:0.325	1.379	0.02092	941	0.13089	Sema domain|Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1936.43	33	chr12	94149654	.	G	A	1936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.952;DP=464;ExcessHet=0;FS=1.331;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.708;SOR=0.708	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1221	9	0	1	0
chr12	96247220	96247220	C	T	exonic	ELK3	.	nonsynonymous SNV	ELK3:NM_005230:exon3:c.C488T:p.T163M	.	425	1095	2	0	0	2	0.000912409	.	.	.	3670923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0294066094612	.	.	1.66e-05	9.707e-05	0	0	0	1.51e-05	0	0	1.94e-05	3	154602	rs1064000	9.577e-06	9.577e-06	9.529e-06	9.626e-06	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	7.557e-05	0	0.0003	3.597e-06	0	5.797e-05	1.971e-05	1.97e-05	1.285e-05	2.689e-05	4.825e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	1.47e-05	0	0	0.035	0.43708	D	0.097	0.39190	T	1.0	0.90584	D	0.985	0.76457	D	0.026436	0.25921	N	0.478445	0.997744	0.81001	D	1.71	0.44315	L	1.47	0.31987	T	-1.68	0.40082	N	0.442	0.48042	-0.8418	0.52527	T	0.172	0.51357	T	10	0.38160634	0.54236	T	0.029407	0.51922	D	0.062	0.17934	.	.	0.590403266352	0.58716	0.4460959709451003	0.44527	0.789580293224	0.65707	0.642176806927	0.58873	T	0.164014	0.50930	T	-0.224665	0.17361	T	-0.378964	0.35845	T	0.567186236381531	0.35127	D	0.813119	0.46553	T	0.14245677	0.32782	0.11565876	0.27920	0.14245677	0.32782	0.11565876	0.27919	-4.155	0.26097	T	.	.	0.075	0.05535	B	.	.	4.033411	0.59656	24.1	0.99867745463923507	0.94547	0.90109	0.51032	D	AEFDBCI	0.395266	0.47219	N	0.617342196880353	0.74271	6.104416	0.586525092644827	0.73973	6.058756	0.999999998859637	0.74766	0.722319	0.85440	0	0.577304	0.33150	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.28	4.38	0.52019	3.889000	0.55925	3.875000	0.40208	0.524000	0.24156	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.9266:0.0:0.0734	14.277	0.65738	754	0.51307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1527.43	33	chr12	96247220	.	C	T	1527.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.617;DP=577;ExcessHet=0;FS=1.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=0.995;SOR=0.8	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1317	9	0	1	0
chr12	96564728	96564728	A	G	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon19:c.A2582G:p.K861R,CFAP54:NM_001367885:exon19:c.A2582G:p.K861R	.	611	909	2	0	0	2	0.0010989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00946945816732	.	0.000798722	0.0029	0	0	0	0	0	0	0.0051	0.0002393	37	154602	rs373034331	0.0004	0.0004	0.0001	0.0006	0.0038	0.0003	0.0003	0.0034	0.0032	0	0	0	0	0	0	3.439e-06	0.0001	0.0038	9.19e-05	9.186e-05	8.993e-05	9.396e-05	0.0027	5.523e-05	4.361e-05	0.0016	0.0013	0	0	0	0	0	0	0	1.47e-05	0	0.0027	0.294	0.14793	T	0.077	0.42436	T	.	.	.	.	.	.	.	.	.	.	0.76988	0.29449	N	.	.	.	.	.	.	-1.1	0.28497	N	0.186	0.20262	-1.0252	0.22017	T	0.094	0.35524	T	6	0.004891604	0.00104	T	0.009469	0.24809	T	0.070	0.20419	0.195	0.10705	0.0884992946249	0.08302	0.057231000812959246	0.05664	0.185412501707	0.20846	.	.	.	0.019944	0.15791	T	-0.54203	0.00326	T	-0.551646	0.17167	T	0.0634636687696368	0.07702	T	0.482752	0.14626	T	0.097677	0.23027	0.08753647	0.20354	0.097677	0.23027	0.08753647	0.20354	-4.263	0.27655	T	.	.	0.085	0.10014	B	.	.	2.596809	0.33695	19.42	0.85935747190208978	0.16206	0.92912	0.56853	D	AEFBI	0.418886	0.48634	N	-0.0770545463065308	0.38400	2.248498	0.0181562030240589	0.40559	2.422431	0.998504432344673	0.37090	0.615465	0.37627	0	0.588066	0.40923	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.25	5.25	0.73169	3.232000	0.51003	7.933000	0.75122	0.691000	0.84096	0.993000	0.37899	1.000000	0.68203	0.201000	0.21925	1.0:0.0:0.0:0.0	12.683	0.56300	858	0.34001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	210.43	41	chr12	96564728	.	A	G	210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.066;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.79;SOR=0.74	GT:AD:DP:GQ:PL	0/0:12,0:12:33:0,33,495	9	0	1	0
chr12	98677505	98677505	A	C	exonic	APAF1	.	nonsynonymous SNV	APAF1:NM_001160:exon13:c.A1841C:p.E614A,APAF1:NM_013229:exon13:c.A1841C:p.E614A,APAF1:NM_181861:exon13:c.A1874C:p.E625A,APAF1:NM_181868:exon13:c.A1874C:p.E625A	.	427	1087	8	0	0	8	0.00366636	.	.	.	725323	APAF1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.075	.	0.0055	0.00299521	0.0064	0.0012	0.0048	0	0.0106	0.0089	0.0066	0.0022	0.0060737	939	154602	rs73142307	0.0069	0.0069	0.0069	0.0069	0.0073	0.0068	0.0067	0.0072	0.0071	0.0007	0.0048	0.0172	0	0.0116	0.0029	0.0073	0.0062	0.0024	0.0055	0.0055	0.0058	0.0051	0.0080	0.0052	0.0050	0.0074	0.0072	0.0011	0	0.0037	0.0182	0	0.0097	0.0034	0.0080	0.0024	0.0033	0.543	0.06735	T	0.276	0.22359	T	0.0	0.02946	B	0.002	0.11217	B	0.685744	0.10219	N	0.885835	0.999943	0.25721	N	-0.135	0.04517	N	0.24	0.59583	T	-0.99	0.26200	N	0.227	0.32481	-1.0325	0.19650	T	0.059	0.24871	T	10	0.006967008	0.00158	T	.	.	.	0.075	0.21907	.	.	0.604084794658	0.60091	0.2513566190325667	0.25049	0.265586840013	0.29113	0.334757745266	0.15652	T	0.170391	0.51812	T	-0.483046	0.00710	T	-0.457244	0.26900	T	0.00643129605102613	0.00072	T	0.829317	0.49671	T	0.09285556	0.21795	0.033448547	0.02242	0.09285556	0.21795	0.033448547	0.02242	-2.579	0.07438	T	.	.	0.080	0.09191	B	.;.;.;.;.;.	.;.;.;.;.;.	2.349174	0.30116	18.34	0.94615443580715064	0.25188	0.65840	0.32873	D	AEFBI	0.132489	0.25180	N	-0.524928794605111	0.21276	1.127939	-0.317902952322808	0.27520	1.527668	0.00772103089955726	0.11528	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.87	3.49	0.39065	1.479000	0.35061	3.164000	0.36582	0.756000	0.94297	0.670000	0.28348	1.000000	0.68203	0.998000	0.85391	0.6207:0.2476:0.1316:0.0	6.319	0.20415	851	0.35303	WD40-repeat-containing domain;.;.;.;.;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	1720.43	33	chr12	98677505	.	A	C	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.027;DP=472;ExcessHet=0;FS=1.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.144;SOR=0.797	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1135	9	0	1	0
chr12	100083041	100083041	C	A	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_001006947:exon11:c.G1382T:p.R461I,UHRF1BP1L:NM_015054:exon11:c.G1382T:p.R461I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.0347516326005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.56	0.74772	M	1.76	0.52187	T	-7.51	0.95665	D	0.947	0.96187	-0.3511	0.73521	T	0.354	0.71728	T	10	0.8895881	0.88297	D	0.034752	0.55884	D	0.530	0.80188	0.781	0.90541	0.52029155784	0.51673	0.6947603114269868	0.69417	0.752499304445	0.63842	0.639207243919	0.58451	T	0.366428	0.79749	T	0.310413	0.83777	D	0.208111	0.83566	D	0.99787974357605	0.92644	D	0.990001	0.96904	D	0.8590774	0.88015	0.87103266	0.92937	0.8590774	0.88017	0.87103266	0.92937	-13.334	0.90692	D	.	.	0.95	0.87996	P	.;.;.;.;.;.	.;.;.;.;.;.	4.847646	0.79201	27.1	0.98691458861582226	0.44766	0.98971	0.89357	D	AEFBI	0.729551	0.67722	D	0.886477090721221	0.91082	10.70654	0.868941898638003	0.94072	12.48445	0.999998505759844	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	6.556000	0.73830	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.349	0.98808	817	0.41665	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	185.43	41	chr12	100083041	.	C	A	185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.513;DP=544;ExcessHet=0;FS=175.793;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0.541;SOR=7.978	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1336	9	0	1	0
chr12	100210141	100210141	A	T	exonic	ACTR6	.	nonsynonymous SNV	ACTR6:NM_022496:exon5:c.A448T:p.S150C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.00710328169028	.	.	8.248e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs749837018	2.743e-06	2.736e-06	4.094e-06	1.378e-06	3.604e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.604e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.13	0.34716	T	0.02	0.27095	B	0.055	0.25995	B	0.000002	0.62929	D	0.160399	0.999986	0.54805	D	1.495	0.37439	L	2.98	0.09356	T	-2.52	0.54702	D	0.735	0.73555	-1.1078	0.03265	T	0.031	0.13242	T	10	0.45677432	0.59037	T	0.007103	0.18814	T	0.297	0.61730	.	.	0.436348499334	0.43257	0.7921880391790337	0.79170	1.2750721008	0.82383	0.81901037693	0.84877	D	0.63356	0.95192	D	0.0592159	0.59514	T	-0.137231	0.60358	T	0.710338294506073	0.41217	D	0.937806	0.78488	D	0.41442668	0.61719	0.15598713	0.36540	0.41442668	0.61719	0.15598713	0.36539	-8.283	0.62982	D	.	.	0.114	0.36033	B	.;.;.;.;.	.;.;.;.;.	3.911914	0.57055	23.8	0.9066434649657672	0.19915	0.91595	0.53857	D	AEFBI	0.422440	0.48844	N	0.088749671828512	0.45937	2.842122	0.253654921505295	0.52856	3.457857	0.0526205722252348	0.14912	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.2	5.2	0.71720	5.457000	0.66411	10.874000	0.84024	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.517	0.75568	776	0.48302	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	685.43	36	chr12	100210141	.	A	T	685.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=409;ExcessHet=0;FS=0.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.06;ReadPosRankSum=-1.938;SOR=0.811	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1061	9	0	1	0
chr12	101293173	101293173	T	A	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon11:c.T1179A:p.F393L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.0181986788865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.012	0.63918	D	0.153	0.28093	B	0.027	0.21085	B	0.000000	0.84330	N	0.051808	0.999613	0.47849	D	1.875	0.49914	L	0.08	0.61559	T	-2.02	0.46503	N	0.406	0.44666	-0.9712	0.36946	T	0.158	0.49111	T	10	0.17921174	0.33044	T	0.018199	0.40183	T	0.147	0.38986	0.393	0.41770	0.495839474393	0.49220	0.4923068804522452	0.49151	0.142435112065	0.16065	0.570388734341	0.48732	T	0.010414	0.09410	T	-0.0688808	0.41507	T	-0.336719	0.40717	T	0.657499253749847	0.38786	D	0.672833	0.28129	T	0.20820872	0.43050	0.16133386	0.37531	0.20820872	0.43049	0.16133386	0.37530	-2.255	0.04316	T	.	.	0.663	0.71456	P	.	.	2.907187	0.38547	20.8	0.98608382245154846	0.43598	0.92724	0.56391	D	AEFBI	0.300930	0.40959	N	-0.244555999960019	0.31322	1.755076	-0.13034727589911	0.34173	1.96279	0.0010712339865487	0.08194	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.21	4.02	0.45968	1.484000	0.35116	2.835000	0.35045	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.1486:0.0:0.8514	9.268	0.36810	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	901.43	33	chr12	101293173	.	T	A	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.824;DP=398;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.98;SOR=0.679	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	9	0	1	0
chr12	101764576	101764576	C	T	exonic	GNPTAB	.	nonsynonymous SNV	GNPTAB:NM_024312:exon13:c.G2341A:p.V781M	Mucolipidosis II alpha/beta, Autosomal recessive;Mucolipidosis III alpha/beta, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	372495	not_provided|Pseudo-Hurler_polydystrophy|Mucolipidosis_type_II	MedGen:C3661900|MONDO:MONDO:0018931,MedGen:C0033788,OMIM:252600,Orphanet:423461,Orphanet:577|MONDO:MONDO:0009650,MedGen:C2673377,OMIM:252500,Orphanet:576	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.0153639746854	.	0.000199681	0.0003	0	0	0	0.0003	0.0005	0	0	0.0002652	41	154602	rs183435240	0.0002	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	2.988e-05	0	3.828e-05	0	3.744e-05	0.0002	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	4.808e-05	0	0	0	0	0.0003	0	0.0005	0.0005	0	0.11	0.29158	T	0.127	0.35082	T	0.304	0.32663	B	0.196	0.36635	B	0.172077	0.03118	N	1.580690	1	0.08975	N	0.69	0.16971	N	0.82	0.48142	T	-0.22	0.10480	N	0.136	0.13341	-1.0083	0.27448	T	0.072	0.29323	T	10	0.032052487	0.01349	T	0.015364	0.36047	T	0.053	0.14996	.	.	0.256793551483	0.25290	0.32021866309530495	0.31934	0.364354138027	0.38050	0.210732296109	0.00843	T	0.103957	0.41309	T	-0.560401	0.00252	T	-0.669303	0.07653	T	0.034735118767084	0.02762	T	0.786621	0.42528	T	0.018444806	0.00367	0.026076049	0.00679	0.018444806	0.00366	0.026076049	0.00679	-4.813	0.34743	T	0.1760203493410097	0.22438	0.078	0.06849	B	.	.	0.820916	0.11921	8.484	0.92777650731239847	0.22292	0.01530	0.05038	N	AEFDGBI	0.035242	0.04501	N	-0.833531185660661	0.12460	0.6074449	-0.859260051055588	0.13066	0.6757229	0.999983120859023	0.51787	0.732398	0.92422	0	0.723133	0.82719	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	4.96	1.41	0.21461	-0.171000	0.09872	-0.575000	0.08406	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.208000	0.22126	0.1404:0.3776:0.1385:0.3434	1.534	0.02387	470	0.78111	DMAP1-binding domain|DMAP1-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1593.43	35	chr12	101764576	.	C	T	1593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.046;DP=505;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.034;SOR=0.703	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr12	102077365	102077365	C	T	exonic	NUP37	.	nonsynonymous SNV	NUP37:NM_024057:exon7:c.G679A:p.V227I	.	.	.	.	.	.	.	.	.	.	.	3190698	NUP37-related_disorder|Microcephaly_24,_primary,_autosomal_recessive	.|MONDO:MONDO:0032583,MedGen:C4748555,OMIM:618179	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.255	0.0129285335532	.	0.00179712	0.0012	0	0	0	0	0.0001	0	0.0083	0.0010543	163	154602	rs555014325	0.0006	0.0006	0.0004	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	2.987e-05	4.472e-05	0	2.52e-05	1.873e-05	0.0005	7.554e-05	0.0007	0.0080	0.0003	0.0003	0.0002	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	0	0	0	0	0	9.436e-05	0	0.0001	0.0005	0.0066	0.308	0.14111	T	0.499	0.11227	T	0.783	0.44368	P	0.084	0.29270	B	0.000000	0.84330	D	0.051291	1	0.81001	D	1.995	0.54099	M	1.59	0.28836	T	-0.12	0.08809	N	0.511	0.54234	-1.0532	0.13520	T	0.078	0.31012	T	10	0.009912968	0.00222	T	0.012929	0.31926	T	0.255	0.56562	.	.	0.445910236696	0.44209	0.2671102968696263	0.26624	0.214958024292	0.24028	0.389136523008	0.23548	T	0.03887	0.24991	T	-0.416991	0.01788	T	-0.366628	0.37283	T	0.0720759083709548	0.08939	T	0.917608	0.70392	D	0.09921293	0.23412	0.11758331	0.28385	0.07152784	0.15842	0.15168387	0.35720	-4.561	0.31677	T	.	.	0.133	0.28807	B	.;.	.;.	3.693003	0.52633	23.3	0.99669754253659149	0.78523	0.98506	0.83503	D	AEFBI	0.818149	0.73947	D	0.50797254385428	0.67560	5.097976	0.622981289008239	0.76612	6.523299	0.999999997099647	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	7.358000	0.78724	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.879	0.99870	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	783.43	34	chr12	102077365	.	C	T	783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.169;DP=372;ExcessHet=0;FS=3.468;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.179;SOR=0.37	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1098	9	0	1	0
chr12	103705720	103705720	C	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon37:c.C3989A:p.T1330N	.	7	1487	28	0	0	28	0.00932712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0509953503137	0.0002	0.000599042	0.0008	0	0	0	0	0.0004	0.0011	0.0044	0.0006856	106	154602	rs201821239	0.0004	0.0004	0.0003	0.0006	0.0064	0.0004	0.0004	0.0048	0.0042	2.987e-05	0.0005	0.0016	0	0	0.0064	9.353e-05	0.0007	0.0045	0.0005	0.0005	0.0002	0.0007	0.0052	0.0004	0.0003	0.0036	0.0031	2.406e-05	0	0.0012	0.0006	0	0	0.0068	0.0003	0.0005	0.0052	0.027	0.46513	D	0.003	0.76473	D	1.0	0.90584	D	0.997	0.86255	D	0.000010	0.62929	D	0.110237	0.882891	0.35788	D	1.765	0.45800	L	-2.06	0.85875	D	-2.27	0.50666	N	0.357	0.39861	0.503	0.90587	D	0.708	0.89977	D	10	0.01371336	0.00290	T	0.050995	0.64476	D	0.361	0.68141	.	.	0.803979797774	0.80215	0.6817167318592029	0.68110	0.187205896589	0.21033	0.544834434986	0.45129	T	0.187926	0.54168	T	-0.294554	0.09182	T	-0.196027	0.55023	T	0.104326851224289	0.12825	T	0.727127	0.34152	T	0.3371174	0.56049	0.44186336	0.67456	0.3371174	0.56049	0.44186336	0.67457	-6.762	0.52276	T	.	.	0.142	0.31253	B	.	.	1.806640	0.22960	15.83	0.9898654450147979	0.49841	0.83466	0.42581	D	AEFBI	0.451692	0.50556	N	0.263445257592735	0.54307	3.596602	0.172457429291924	0.48344	3.051557	0.860710096106632	0.25219	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	4.85	0.62375	1.246000	0.32405	1.404000	0.26222	0.599000	0.40250	0.748000	0.29111	0.779000	0.26763	0.251000	0.23288	0.0:0.8702:0.1297:0.0	16.695	0.85192	869	0.31655	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	682.43	38	chr12	103705720	.	C	A	682.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.75;DP=393;ExcessHet=0;FS=1.959;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.797;SOR=0.972	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,973	9	0	1	0
chr12	103956630	103956630	C	T	splicing	C12orf73	NM_001135570:exon2:c.108+1G>A	.	.	.	423	1098	1	0	0	1	0.000455166	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0802530744224	0.0026	0.00219649	0.0020	0	0.0074	0	0.0082	0.0030	0.0042	0	0.0009573	148	154602	rs116995648	0.0041	0.0039	0.0043	0.0038	0.0048	0.0040	0.0040	0.0047	0.0047	0.0004	0.0021	0	0	0.0046	0.0011	0.0048	0.0033	0.0001	0.0026	0.0026	0.0025	0.0027	0.0039	0.0024	0.0023	0.0035	0.0033	0.0008	0	0.0024	0	0	0.0058	0	0.0039	0.0019	0	0.062	0.36912	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.31	0.04022	N	0.459	0.49602	-0.4619	0.70004	T	0.223	0.58703	T	5	0.007425219	0.00169	T	0.080253	0.73418	D	0.098	0.28162	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.010864	0.09766	T	0.122434	0.66615	D	0.405704	0.92296	D	0.0575271689408536	0.06773	T	0.391261	0.09725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.66760	A	.	.	5.479153	0.91359	32	0.99545712609875381	0.70773	0.97571	0.75624	D	AEFDGBHCI	0.790794	0.71958	D	1.06875601101388	0.97511	16.25434	0.900817201670537	0.95608	13.78688	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	5.06	5.06	0.67838	6.066000	0.70822	7.398000	0.58557	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.420	0.90531	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1245.43	34	chr12	103956630	.	C	T	1245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=408;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.24;SOR=0.599	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1233	9	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1489.23	152	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	1489.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.85;DP=1300;ExcessHet=2.8389;FS=10.899;InbreedingCoeff=-0.3342;MLEAC=2;MLEAF=0.1;MQ=58.64;MQRankSum=-8.603;QD=2.17;ReadPosRankSum=-4.004;SOR=2.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:465,0,3834:103984920	8	0	2	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCTGTTAA:p.E331Gfs*8	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1489.23	152	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCTGTTAA	1489.23	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.85;DP=1300;ExcessHet=2.8389;FS=10.899;InbreedingCoeff=-0.3342;MLEAC=1;MLEAF=0.05;MQ=58.64;MQRankSum=-8.603;QD=2.17;ReadPosRankSum=-4.004;SOR=2.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:93,0:111:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:465,748,4637:103984920	9	0	1	0
chr12	103984922	103984922	-	TAAGG	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGG;NM_003211:exon8:c.964+2->TAAGG	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.148e-05	0.0003	1.26e-05	1.034e-05	4.798e-05	5.4e-06	3.91e-06	4.77e-06	3.07e-06	0	0	8.22e-05	4.798e-05	0	0	1.147e-05	0	0	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1258.66	152	chr12	103984922	.	T	TTAAGG	1258.66	.	AC=1;AF=0.063;AN=16;BaseQRankSum=4.89;DP=1210;ExcessHet=1.5895;FS=9.823;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.063;MQ=58.27;MQRankSum=-9.799;QD=2.32;ReadPosRankSum=-3.841;SOR=1.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:93,0:111:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:466,748,4636:103984920	7	0	1	2
chr12	103984922	103984922	-	TAAGGAAGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGAAGA;NM_003211:exon8:c.964+2->TAAGGAAGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.815e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1258.66	152	chr12	103984922	.	T	TTAAGGAAGA	1258.66	.	AC=1;AF=0.063;AN=16;BaseQRankSum=4.89;DP=1210;ExcessHet=1.5895;FS=9.823;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.063;MQ=58.27;MQRankSum=-9.799;QD=2.32;ReadPosRankSum=-3.841;SOR=1.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,18:111:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:466,0,3833:103984920	7	0	1	2
chr12	103985730	103985730	-	GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	splicing	TDG	NM_001363612:exon8:c.661+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA;NM_003211:exon9:c.1090+2->GGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	.	.	.	0	196	14	0	16	30	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0004	0.0002	0	0.0002	0.0011	0.0004	3.84e-05	1	26028	rs749286024	7.58e-05	8.345e-05	8.224e-05	6.928e-05	0.0007	6.429e-05	5.982e-05	0.0005	0.0004	6.026e-05	0.0007	7.714e-05	0.0003	5.659e-05	0	3.166e-05	8.344e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2318.2	100	chr12	103985730	.	T	TGGAGTTAAGAGGAGAATCAGCTTTCAGTGGCATTCCTA	2318.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.83;DP=881;ExcessHet=2.8389;FS=11.598;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=56.62;MQRankSum=-8.876;QD=4.93;ReadPosRankSum=-4.107;SOR=1.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:82,0:82:99:.:.:0,120,1800:.	9	0	1	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.000000	0.008152	0.005848	0.000000	0.008621	0.018293	0.041667	0.1	4678.12	154	chr12	104067989	.	C	T	4678.12	.	AC=2;AF=0.1;AN=20;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.38;SOR=0.801	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	9	1	0	0
chr12	105126095	105126095	G	A	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon11:c.G878A:p.R293Q,WASHC4:NM_015275:exon11:c.G878A:p.R293Q	.	439	1078	5	0	0	5	0.00231374	.	.	.	226930	not_provided|WASHC4-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.0195611185927	0.0014	0.00119808	0.0018	0.0001	0.0030	0	0	0.0026	0.0023	0.0002	0.0017658	273	154602	rs35267264	0.0017	0.0017	0.0017	0.0018	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0024	0	0	0.0001	0.0038	0.0021	0.0014	0.0003	0.0014	0.0015	0.0016	0.0013	0.0026	0.0013	0.0012	0.0023	0.0022	0.0003	0	0.0017	0	0	0	0	0.0026	0.0009	0	0.066	0.36113	T	0.062	0.45318	T	0.993	0.65571	D	0.77	0.56828	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.36	0.34452	T	-1.6	0.38540	N	0.865	0.86191	-0.8796	0.49793	T	0.189	0.54049	T	10	0.055656135	0.06118	T	0.019561	0.41954	T	0.246	0.55340	.	.	0.649541849935	0.64662	0.6092801954649615	0.60860	0.721910596354	0.62253	0.572447240353	0.49024	T	0.030568	0.30764	T	-0.136116	0.30510	T	0.0286514	0.72191	D	0.0493454970419407	0.05384	T	0.963804	0.86607	D	0.25921568	0.48974	0.26098907	0.51871	0.24895392	0.47886	0.2349598	0.48726	-3.378	0.14762	T	0.2869922312430179	0.38310	0.212	0.47382	B	.;.	.;.	4.705053	0.75534	26.3	0.9995048659989606	0.99938	0.99260	0.93590	D	AEFGBI	0.860511	0.77838	D	0.72227418753605	0.81093	7.442052	0.733636679200362	0.84931	8.431703	0.999999999999306	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	8.146000	0.89551	11.836000	0.97677	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.518	0.95164	851	0.35303	WASH complex subunit 7, N-terminal;WASH complex subunit 7, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.000000	0.004076	0.000000	0.000000	0.000000	0.006135	0.003788	0.05	887.43	34	chr12	105126095	.	G	A	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.96;DP=392;ExcessHet=0;FS=4.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.61;SOR=1.248	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1096	9	0	1	0
chr12	106321520	106321520	G	A	exonic	TCP11L2	.	nonsynonymous SNV	TCP11L2:NM_001286262:exon5:c.G449A:p.R150Q,TCP11L2:NM_152772:exon5:c.G449A:p.R150Q	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0266167698494	0.0021	0.000399361	0.0014	0.0009	0.0008	0.0002	0.0002	0.0022	0.0023	0.0002	0.0015718	243	154602	rs138066544	0.0025	0.0025	0.0026	0.0024	0.0030	0.0024	0.0024	0.0029	0.0029	0.0005	0.0013	0.0011	2.519e-05	9.36e-05	0.0024	0.0030	0.0028	0.0003	0.0017	0.0017	0.0020	0.0015	0.0028	0.0015	0.0015	0.0025	0.0023	0.0006	0	0.0020	0.0009	0	0.0002	0.0068	0.0028	0.0038	0.0004	0.064	0.68238	T	0.055	0.60972	T	0.996	0.68779	D	0.954	0.69447	D	0.000019	0.62929	D	0.113050	1	0.81001	D	2.725	0.79712	M	2.55	0.13795	T	-3.3	0.67129	D	0.433	0.48689	-1.0902	0.05499	T	0.112	0.40052	T	10	0.022249341	0.00551	T	0.026617	0.49512	D	0.271	0.58633	.	.	0.472982741448	0.46926	0.599964848057429	0.59927	0.13347774739	0.15028	0.351426035166	0.18132	T	0.100132	0.40562	T	-0.396211	0.02451	T	-0.34205	0.40113	T	0.0246036288702697	0.01221	T	0.937406	0.82717	D	0.5663731	0.70860	0.41167554	0.65392	0.5663731	0.70862	0.41167554	0.65392	-8.716	0.65850	D	.	.	0.201	0.42462	B	.;.;.;.	.;.;.;.	5.138356	0.86020	28.8	0.99960205834434734	0.99994	0.98773	0.86667	D	AEFBI	0.798578	0.72508	D	0.772792629799758	0.84378	8.271391	0.800262199471699	0.89812	10.13136	0.999999471590173	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.98	5.98	0.97147	7.714000	0.83668	9.822000	0.81809	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:1.0:0.0	20.437	0.99095	937	0.14592	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.008621	0.009146	0.003788	0.05	716.43	33	chr12	106321520	.	G	A	716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.974;DP=372;ExcessHet=0;FS=2.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=1.01;SOR=1.219	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	9	0	1	0
chr12	107319758	107319758	G	A	exonic	BTBD11	.	nonsynonymous SNV	BTBD11:NM_001018072:exon1:c.G818A:p.G273D,BTBD11:NM_001347943:exon1:c.G818A:p.G273D	.	421	1096	5	0	0	5	0.00227583	.	.	.	3301751	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.151	0.190181863539	.	.	0.0008	0	0	0	.	0	0	0.0011	7.12e-05	11	154602	rs776099215	0.0002	0.0002	0.0001	0.0002	0.0048	0.0002	0.0002	0.0032	0.0027	7.04e-05	2.949e-05	0	0	0	0.0048	0.0001	0.0003	0.0012	8.575e-05	8.534e-05	5.161e-05	0.0001	0.0006	4.975e-05	3.977e-05	0.0002	9.018e-05	0	0	0	0	0	0	0.0034	0.0001	0	0.0006	0.029	0.48186	D	0.097	0.41239	T	0.001	0.14655	B	0.001	0.12992	B	0.003899	0.34365	N	0.132994	0.951023	0.26485	N	1.355	0.33814	L	1.21	0.37230	T	0.01	0.11547	N	0.162	0.25745	-1.0790	0.07543	T	0.040	0.17063	T	10	0.025513679	0.00743	T	0.190182	0.86108	D	0.151	0.39764	.	.	0.517039506269	0.51347	0.12226249392938374	0.12153	1.35654827565	0.84194	0.8530382514	0.90072	D	0.004837	0.04259	T	-0.386863	0.02818	T	-0.369012	0.37005	T	0.037854607996409	0.03306	T	0.666933	0.27600	T	0.097774565	0.23052	0.19849801	0.43685	0.097774565	0.23052	0.19849801	0.43684	-9.448	0.71076	D	.	.	0.205	0.43088	B	.;.;.	.;.;.	3.079282	0.41422	21.4	0.98876594198085155	0.47736	0.27414	0.23270	N	AEFDBCI	0.042264	0.06534	N	-0.453056400895256	0.23637	1.270687	-0.307882737989966	0.27844	1.547918	0.999999977844396	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.41	3.44	0.38486	0.714000	0.25478	8.002000	0.76154	0.575000	0.29119	0.264000	0.24988	1.000000	0.68203	0.630000	0.32157	0.1058:0.1995:0.6948:0.0	5.726	0.17280	454	0.79125	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006631	0.000000	0.005556	0.014706	0.000000	0.011364	0.000000	0.010204	0.05	461.43	43	chr12	107319758	.	G	A	461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=236;ExcessHet=0;FS=1.194;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.45;SOR=0.475	GT:AD:DP:GQ:PL	0/0:19,0:19:48:0,48,720	9	0	1	0
chr12	108195972	108195972	G	A	exonic	WSCD2	.	nonsynonymous SNV	WSCD2:NM_014653:exon2:c.G140A:p.G47E,WSCD2:NM_001304447:exon3:c.G140A:p.G47E	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0074533342012	.	.	4.989e-05	0	0	0	0	1.506e-05	0	0.0003	3.88e-05	6	154602	rs753595241	2.736e-05	2.736e-05	1.497e-05	3.988e-05	0.0004	2.062e-05	1.816e-05	0.0003	0.0002	0	0	0	0	0	0.0002	4.496e-06	1.656e-05	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02000	T	1.0	0.02348	T	0.0	0.02946	B	0.0	0.01387	B	0.117106	0.19166	N	0.557262	1	0.08975	N	-0.205	0.04094	N	1.55	0.29866	T	-0.44	0.14588	N	0.054	0.11054	-0.9909	0.32373	T	0.028	0.12147	T	10	0.031251162	0.01258	T	0.007453	0.19765	T	0.091	0.26358	0.297	0.26202	0.0401082797425	0.02173	0.3442808329261468	0.34342	0.486009333891	0.47472	0.398763477802	0.24896	T	0.006501	0.05931	T	-0.534877	0.00359	T	-0.705767	0.05516	T	0.0200351499881445	0.00704	T	0.350365	0.07800	T	0.033230446	0.03500	0.04860362	0.07254	0.033230446	0.03499	0.04860362	0.07254	-4.031	0.24326	T	.	.	0.062	0.01309	B	.;.;.	.;.;.	1.213944	0.16070	12.30	0.38322929750288709	0.02578	0.35640	0.25349	N	AEFDBI	0.114123	0.22491	N	-1.18532919072679	0.05221	0.2375213	-1.08155819237223	0.08063	0.3948533	0.0954067517313544	0.16226	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.74	0.626	0.16843	3.426000	0.52545	4.650000	0.44192	-0.102000	0.15922	0.997000	0.40164	1.000000	0.68203	0.076000	0.17014	0.5068:0.171:0.3222:0.0	4.362	0.10643	889	0.27310	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2165.43	36	chr12	108195972	.	G	A	2165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=488;ExcessHet=0;FS=6.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.56;SOR=0.366	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1198	9	0	1	0
chr12	108561118	108561118	C	G	exonic	SART3	.	nonsynonymous SNV	SART3:NM_014706:exon1:c.G37C:p.E13Q	.	1	1517	3	1	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0293326976736	0.0006	0.00199681	0.0016	9.656e-05	8.66e-05	0	0	0.0010	0	0.0077	0.0014036	217	154602	rs139501952	0.0008	0.0008	0.0006	0.0010	0.0074	0.0008	0.0008	0.0069	0.0067	0	6.708e-05	0.0114	0	0	0.0019	0.0001	0.0015	0.0074	0.0006	0.0006	0.0005	0.0007	0.0064	0.0005	0.0005	0.0047	0.0040	2.406e-05	0	0	0.0132	0.0002	0	0	0.0002	0.0005	0.0064	0.0	0.91255	D	0.0	0.92824	D	0.875	0.77913	P	0.392	0.74104	B	0.000702	0.42254	D	0.154477	0.979535	0.25175	N	1.1	0.28011	L	2.39	0.58897	T	-0.22	0.62343	N	0.312	0.35194	-0.8442	0.52365	T	0.239	0.60714	T	10	0.0058586	0.00131	T	0.029333	0.51865	D	0.106	0.30130	.	.	0.615219230651	0.61211	0.2091203743473941	0.20828	0.216239903924	0.24148	0.452970683575	0.32349	T	0.029523	0.21136	T	-0.337831	0.05540	T	-0.253201	0.49500	T	0.155508700188148	0.17534	T	0.847215	0.53896	T	0.31908056	0.54562	0.34553924	0.60235	0.31908056	0.54562	0.34553924	0.60235	-6.467	0.50031	T	.	.	0.098	0.40295	B	.;.;.;.	.;.;.;.	3.887534	0.56547	23.7	0.98163932253587216	0.38797	0.36407	0.25526	N	ALL	0.145837	0.26914	N	0.224454698721521	0.52386	3.413135	0.21666321584717	0.50770	3.265739	0.999999999999951	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.99	4.03	0.46115	1.012000	0.29527	4.071000	0.41665	0.599000	0.40250	0.726000	0.28882	0.999000	0.35428	0.044000	0.14658	0.0:0.8088:0.1912:0.0	10.808	0.45734	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.007576	0.05	842.43	39	chr12	108561118	.	C	G	842.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.277;DP=420;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-1.431;SOR=0.519	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	9	0	1	0
chr12	108788442	108788442	G	C	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_018984:exon15:c.C2696G:p.P899R	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00729197730204	0.0002	0.00119808	0.0013	0.0001	0.0005	0	0	0.0010	0.0013	0.0066	0.001119	173	154602	rs146273433	0.0007	0.0008	0.0005	0.0009	0.0054	0.0007	0.0007	0.0050	0.0048	3.121e-05	0.0013	0.0081	0	1.957e-05	0.0036	0.0002	0.0014	0.0054	0.0009	0.0009	0.0008	0.0011	0.0050	0.0008	0.0008	0.0034	0.0029	7.218e-05	0	0.0031	0.0098	0	0	0.0102	0.0004	0.0019	0.0050	0.042	0.41637	D	0.431	0.13673	T	0.201	0.29693	B	0.063	0.27082	B	0.526348	0.11686	N	0.802027	1	0.08975	N	1.61	0.41143	L	2.79	0.11189	T	-1.02	0.26843	N	0.124	0.11626	-1.0071	0.27819	T	0.027	0.11707	T	10	0.0038118064	0.00072	T	0.007292	0.19334	T	0.031	0.07369	.	.	0.19168177325	0.18762	0.31280380106991573	0.31193	0.281092337101	0.30582	0.333899259567	0.15521	T	0.044405	0.26805	T	-0.561553	0.00248	T	-0.577766	0.14745	T	0.0115682726316698	0.00175	T	0.744526	0.36463	T	0.035950575	0.04328	0.042760726	0.05165	0.035950575	0.04328	0.042760726	0.05165	-3.494	0.16348	T	.	.	0.089	0.12276	B	.	.	2.181558	0.27809	17.59	0.94268694792386953	0.24555	0.37481	0.25772	N	AEFDBCI	0.157702	0.28325	N	-0.780241233445969	0.13826	0.6839557	-0.871908698914118	0.12761	0.6583303	0.995597463849118	0.34213	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.25	1.0	0.18999	1.379000	0.33946	2.357000	0.32349	0.676000	0.76740	0.002000	0.15269	0.043000	0.21642	0.636000	0.32315	0.1389:0.2472:0.6139:0.0	7.893	0.28851	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.001359	0.000000	0.000000	0.000000	0.018293	0.007576	0.05	1490.43	129	chr12	108788442	.	G	C	1490.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.217;DP=558;ExcessHet=0;FS=5.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.136;SOR=1.108	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1092	9	0	1	0
chr12	108887506	108887506	C	T	exonic	DAO	.	nonsynonymous SNV	DAO:NM_001917:exon3:c.C251T:p.A84V	.	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.500	0.139380528404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.72154	T	0.012	0.66756	D	1.0	0.90584	D	0.959	0.70163	D	0.000000	0.84330	D	0.049901	0.644584	0.81001	D	2.895	0.83812	M	1.17	0.80125	T	-2.76	0.67477	D	0.234	0.26354	0.425	0.89475	D	0.683	0.89040	D	10	0.7672936	0.76804	D	0.139381	0.82186	D	0.500	0.78350	0.631	0.76699	0.941913673381	0.94130	0.879160260496193	0.87883	0.296383753577	0.32023	0.41980278492	0.27809	T	0.078023	0.88857	T	0.112105	0.65570	D	-0.0767455	0.65141	T	0.973303735256195	0.70042	D	0.865313	0.56401	D	0.8648069	0.88455	0.70415854	0.82562	0.8648069	0.88456	0.70415854	0.82563	-8.324	0.63257	D	.	.	0.235	0.47665	B	.;.;.	.;.;.	4.521644	0.70897	25.6	0.99883026826557142	0.95892	0.96767	0.70829	D	AEFDBI	0.842534	0.75964	D	0.59920202224022	0.73126	5.915265	0.508282067301402	0.68548	5.235059	0.999999995011097	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.52	5.52	0.82153	5.981000	0.70207	5.860000	0.50423	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.466000	0.28252	0.0:1.0:0.0:0.0	18.024	0.89186	799	0.44747	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1944.43	35	chr12	108887506	.	C	T	1944.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.003;DP=498;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.368;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	9	0	1	0
chr12	109439701	109439701	C	T	exonic	MYO1H	.	nonsynonymous SNV	MYO1H:NM_001101421:exon23:c.C2317T:p.R773W	.	426	1091	5	0	0	5	0.00228624	.	.	.	724876	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.689	.	0.0003	0.0153754	0.0072	0.0003	0.0006	0.0626	0	0.0002	0.0047	0.0183	0.0063712	985	154602	rs74528155	0.0029	0.0029	0.0026	0.0031	0.0546	0.0028	0.0028	0.0527	0.0519	0.0002	0.0003	3.827e-05	0.0546	3.746e-05	0.0010	9.265e-05	0.0084	0.0159	0.0028	0.0028	0.0025	0.0031	0.0529	0.0026	0.0025	0.0478	0.0458	0.0002	0	0.0019	0	0.0529	0	0	8.82e-05	0.0099	0.0186	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.577	0.60410	0.221	0.86271	D	0.525	0.82297	D	9	0.006072074	0.00136	T	.	.	.	0.689	0.88679	.	.	0.911773092726	0.91089	0.6795882394594506	0.67897	0.429199578259	0.43218	0.46223205328	0.33616	T	.	.	.	-0.00618123	0.50799	T	0.264681	0.86313	D	0.085568498417647	0.10684	T	0.89721	0.64041	D	.	.	.	.	.	.	.	.	-9.032	0.67903	D	.	.	0.193	0.41357	B	.;.	.;.	4.710942	0.75686	26.4	0.99927969351599377	0.99222	0.76919	0.37765	D	AEFBI	0.576271	0.57833	D	0.539496970276355	0.69442	5.357864	0.477379514286417	0.66495	4.95938	0.998807468228945	0.37711	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.48	0.38946	2.316000	0.43421	0.477000	0.18769	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.996000	0.76049	0.3299:0.585:0.0:0.0851	6.338	0.20513	787	0.46738	.;.	.	.	.	.	rs74528155	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1964.43	35	chr12	109439701	.	C	T	1964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.648;DP=445;ExcessHet=0;FS=2.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.559;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr12	109800711	109800711	C	T	exonic	TRPV4	.	nonsynonymous SNV	TRPV4:NM_147204:exon4:c.G760A:p.V254M,TRPV4:NM_001177431:exon5:c.G658A:p.V220M,TRPV4:NM_021625:exon5:c.G760A:p.V254M	Brachyolmia type 3, Autosomal dominant;Digital arthropathy-brachydactyly, familial, Autosomal dominant;Hereditary motor and sensory neuropathy, type IIc, Autosomal dominant;Metatropic dysplasia, Autosomal dominant;Parastremmatic dwarfism, Autosomal dominant;SED, Maroteaux type, Autosomal dominant;Scapuloperoneal spinal muscular atrophy, Autosomal dominant;Spinal muscular atrophy, distal, congenital nonprogressive, Autosomal dominant;Spondylometaphyseal dysplasia, Kozlowski type, Autosomal dominant	0	1509	12	1	0	14	0.00461741	.	.	.	315989	Charcot-Marie-Tooth_disease_axonal_type_2C|Scapuloperoneal_spinal_muscular_atrophy|Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_8|Inborn_genetic_diseases|TRPV4-related_disorder|Brachyrachia_(short_spine_dysplasia)|Metatropic_dysplasia|Spondylometaphyseal_dysplasia,_Kozlowski_type|not_provided|Charcot-Marie-Tooth_disease|not_specified	MONDO:MONDO:0011633,MedGen:C1853710,OMIM:606071,Orphanet:99937|MONDO:MONDO:0008408,MedGen:C0751335,OMIM:181405,Orphanet:431255|MONDO:MONDO:0010839,MedGen:C1838492,OMIM:600175,Orphanet:1216|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0007232,MedGen:C0432227,OMIM:113500,Orphanet:93304|MONDO:MONDO:0007986,MedGen:C0265281,OMIM:156530,Orphanet:2635|MONDO:MONDO:0008477,MedGen:C0265280,OMIM:184252,Orphanet:93314|MedGen:C3661900|MONDO:MONDO:0015626,MedGen:C0007959,OMIM:PS118220,Orphanet:166|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.710	0.142466146923	0.0002	.	0.0005	9.773e-05	0.0003	0	0	0.0002	0	0.0025	0.0003752	58	154602	rs143548402	0.0002	0.0002	0.0001	0.0003	0.0023	0.0002	0.0002	0.0021	0.0020	2.987e-05	0	0	2.519e-05	1.874e-05	0.0005	8.903e-05	0.0002	0.0023	0.0001	0.0001	3.854e-05	0.0002	0.0014	8.163e-05	6.72e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0001	0.0009	0.0014	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.933	0.92359	D	0.000001	0.62929	D	0.057044	0.999106	0.81001	D	2.465	0.71551	M	-0.69	0.72678	T	-2.5	0.54382	D	0.77	0.83473	0.089	0.83978	D	0.522	0.82148	D	10	0.3054291	0.48060	T	0.142466	0.82484	D	0.710	0.89650	.	.	0.838566508326	0.83702	0.8923196957769167	0.89201	1.19608821648	0.80400	0.806610047817	0.82972	D	0.545452	0.84512	D	-0.150593	0.28218	T	0.00412262	0.70602	D	0.162303904316865	0.18040	T	0.960304	0.85063	D	0.6894926	0.77484	0.6638032	0.80292	0.81405336	0.84823	0.6571573	0.79924	-12.472	0.87870	D	0.7530580368768998	0.83512	0.943	0.90519	P	.;.;.;.	.;.;.;.	4.717481	0.75853	26.4	0.99869224030827952	0.94726	0.97656	0.76199	D	AEFDBI	0.862202	0.78044	D	0.448275972145442	0.64105	4.657754	0.354340023546599	0.58769	4.049636	0.783781668867023	0.23892	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.92	4.03	0.46115	7.562000	0.81274	4.748000	0.44643	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.061000	0.16044	0.0:0.9167:0.0:0.0833	12.266	0.53996	704	0.57414	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	2201.43	144	chr12	109800711	.	C	T	2201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.283;DP=502;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-1.306;SOR=0.64	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1475	9	0	1	0
chr12	109953174	109953174	T	C	exonic	GIT2	.	nonsynonymous SNV	GIT2:NM_001135214:exon13:c.A1160G:p.N387S,GIT2:NM_001330153:exon13:c.A1157G:p.N386S,GIT2:NM_001330154:exon13:c.A1160G:p.N387S,GIT2:NM_014776:exon13:c.A1160G:p.N387S,GIT2:NM_057169:exon13:c.A1160G:p.N387S,GIT2:NM_057170:exon13:c.A1160G:p.N387S,GIT2:NM_139201:exon13:c.A1160G:p.N387S,GIT2:NM_001135213:exon14:c.A1166G:p.N389S	.	427	1094	1	0	0	1	0.00045683	.	.	.	1277521	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.145	.	7.7e-05	0.0145767	0.0054	0	0.0003	0.0747	0	0	0	0.0001	0.0049676	768	154602	rs925368	0.0027	0.0027	0.0027	0.0027	0.0958	0.0026	0.0026	0.0933	0.0922	2.987e-05	0.0002	0	0.0958	1.872e-05	0.0002	1.709e-05	0.0019	0.0001	0.0028	0.0028	0.0023	0.0032	0.0800	0.0026	0.0025	0.0737	0.0712	0	0	6.531e-05	0	0.0800	9.423e-05	0	2.94e-05	0.0005	0.0004	0.088	0.34095	T	0.32	0.30045	T	0.01	0.26142	B	0.027	0.30579	B	0.000003	0.62929	D	0.132813	0.998504	0.81001	D	1.445	0.36358	L	-0.56	0.71543	T	-1.73	0.45222	N	0.534	0.56489	-0.9608	0.39031	T	0.026	0.11131	T	10	0.0020668805	0.00029	T	.	.	.	0.145	0.38592	.	.	0.63826945483	0.63529	0.12165101868610946	0.12092	0.517528454387	0.49617	0.506075561047	0.39674	T	0.117043	0.43683	T	-0.445609	0.01199	T	-0.353682	0.38782	T	0.0259033472016651	0.01393	T	0.953705	0.96662	D	0.12608741	0.29542	0.118274905	0.28551	0.12608741	0.29541	0.118274905	0.28550	-4.129	0.26068	T	.	.	0.076	0.10062	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.803283	0.54811	23.5	0.98305378696901513	0.40087	0.93651	0.58804	D	AEFBI	0.399284	0.47463	N	-0.181013414670229	0.33926	1.930378	-0.0513962169231911	0.37430	2.191448	0.999999006596762	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	2.246000	0.42794	5.072000	0.47187	0.609000	0.47794	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.282	0.65767	577	0.69927	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	468.43	34	chr12	109953174	.	T	C	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.577;DP=394;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.79;ReadPosRankSum=-0.126;SOR=0.824	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1142	9	0	1	0
chr12	110136788	110136788	G	T	exonic	IFT81	.	nonsynonymous SNV	IFT81:NM_001143779:exon8:c.G709T:p.V237L,IFT81:NM_001347946:exon8:c.G709T:p.V237L,IFT81:NM_014055:exon8:c.G709T:p.V237L,IFT81:NM_031473:exon8:c.G709T:p.V237L	.	.	.	.	.	.	.	.	.	.	.	994894	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.00582367240055	.	0.000199681	1.761e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs551236440	5.492e-06	6.157e-06	2.733e-06	8.278e-06	0.0002	2.36e-06	1.71e-06	1.588e-05	9.33e-06	0	0	0	0	0	0.0002	9.027e-07	3.321e-05	4.659e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.077	0.45756	T	0.004	0.74150	D	0.571	0.38591	P	0.21	0.37304	B	0.000000	0.84330	D	0.050539	0.687794	0.33296	D	0	0.06538	N	1.54	0.30133	T	-1.0	0.27876	N	0.348	0.39254	-1.0777	0.07801	T	0.047	0.20275	T	10	0.1306377	0.24861	T	0.005824	0.15131	T	0.111	0.31313	0.224	0.14813	0.33440975612	0.33058	0.16083344008180214	0.16004	0.173405272306	0.19527	0.478821784258	0.35895	T	0.02826	0.20514	T	-0.309671	0.07777	T	-0.478997	0.24554	T	0.544242918491364	0.34262	D	0.956971	0.83666	D	0.36732692	0.58386	0.27484205	0.53416	0.36732692	0.58387	0.27484205	0.53415	-3.897	0.23594	T	0.19150012398479524	0.25128	0.104	0.29088	B	.;.;.;.	.;.;.;.	3.918522	0.57191	23.8	0.99684722577076512	0.79507	0.98976	0.89428	D	AEFBI	0.863487	0.78204	D	0.19518748872392	0.50968	3.281921	0.378763765821399	0.60257	4.211328	0.999999990171766	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.27	5.27	0.73797	8.736000	0.91258	8.522000	0.77426	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.241	0.93871	737	0.53483	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	366.43	34	chr12	110136788	.	G	T	366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=326;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.466;SOR=1.061	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,896	9	0	1	0
chr12	110374256	110374256	T	G	exonic	ANAPC7	.	nonsynonymous SNV	ANAPC7:NM_001385211:exon10:c.A1361C:p.Q454P,ANAPC7:NM_001385212:exon10:c.A1025C:p.Q342P,ANAPC7:NM_001385208:exon11:c.A1628C:p.Q543P,ANAPC7:NM_001385209:exon11:c.A1385C:p.Q462P,ANAPC7:NM_001385210:exon11:c.A1385C:p.Q462P,ANAPC7:NM_016238:exon11:c.A1586C:p.Q529P	.	405	1116	1	0	0	1	0.000447828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0170890491575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.14017	T	0.312	0.19599	T	0.576	0.38723	P	0.188	0.36237	B	0.000255	0.46924	D	0.222920	0.999537	0.51308	D	0	0.06538	N	-0.26	0.67187	T	-0.67	0.19297	N	0.536	0.56403	-0.8581	0.51398	T	0.162	0.49731	T	10	0.39028788	0.54841	T	0.017089	0.38644	T	0.197	0.47942	0.421	0.46365	0.790933654087	0.78899	0.4491788786593667	0.44835	1.01471025542	0.74896	0.747034788132	0.74009	T	0.043048	0.26376	T	0.101795	0.64486	D	-0.091555	0.64046	T	0.588439881801605	0.35945	D	0.861914	0.55630	D	0.3478453	0.56899	0.28073892	0.54051	0.3478453	0.56899	0.28073892	0.54050	-3.914	0.22512	T	.	.	0.068	0.02733	B	.	.	3.513810	0.49220	22.7	0.979279164893466	0.36935	0.90255	0.51287	D	AEFDGBCI	0.688808	0.64969	D	0.0930758213383799	0.46139	2.859049	0.26744678653724	0.53649	3.532747	0.999999999422858	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	5.88	0.94564	4.117000	0.57623	7.855000	0.71153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.299	0.82622	223	0.91367	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	827.43	35	chr12	110374256	.	T	G	827.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.568;DP=395;ExcessHet=0;FS=1.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.559;SOR=0.886	GT:AD:DP:GQ:PL	0/1:55,38:93:99:839,0,1401	9	0	1	0
chr12	110487913	110487913	A	G	exonic	FAM216A	.	nonsynonymous SNV	FAM216A:NM_013300:exon6:c.A673G:p.R225G	.	442	1054	25	1	0	27	0.0126464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	.	0.0059	0.00379393	0.0058	0.0009	0.0016	0	0.0044	0.0088	0.0033	0.0038	0.0059572	921	154602	rs17188964	0.0079	0.0081	0.0079	0.0079	0.0139	0.0078	0.0077	0.0115	0.0106	0.0014	0.0022	0.0091	0	0.0051	0.0139	0.0090	0.0074	0.0041	0.0055	0.0055	0.0061	0.0049	0.0092	0.0052	0.0051	0.0086	0.0084	0.0012	0.0077	0.0042	0.0110	0	0.0028	0.0034	0.0092	0.0052	0.0035	0.004	0.65419	D	0.011	0.64786	D	0.965	0.56013	D	0.638	0.52030	P	0.055943	0.22600	N	0.323153	1	0.81001	D	1.04	0.26193	L	0.66	0.52416	T	-2.61	0.56144	D	0.236	0.26596	-1.0503	0.14313	T	0.057	0.23980	T	10	0.0070593655	0.00160	T	.	.	.	0.243	0.54921	.	.	0.402043589563	0.39814	0.21282060999458166	0.21198	0.177609951616	0.19982	0.311449468136	0.12126	T	0.111858	0.42768	T	-0.3221	0.06727	T	-0.228059	0.51959	T	0.0293136584605625	0.01885	T	0.762924	0.38892	T	0.15291925	0.34689	0.18153362	0.41023	0.15291925	0.34689	0.18153362	0.41022	-4.597	0.32134	T	.	.	0.204	0.42962	B	.	.	3.503975	0.49039	22.7	0.99829362642417319	0.91112	0.67799	0.33564	D	AEFBI	0.243090	0.36442	N	0.188194027518038	0.50632	3.251376	0.207468649649226	0.50260	3.220038	0.0107675638402065	0.12078	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.45	3.28	0.36691	0.794000	0.26619	5.137000	0.47688	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.7556:0.2444:0.0:0.0	7.402	0.26141	268	0.89479	.	GIT2|FAM109A	Spleen|Stomach	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009577	0.000000	0.008152	0.020468	0.000000	0.000000	0.012195	0.011364	0.05	690.43	35	chr12	110487913	.	A	G	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.233;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.88;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	9	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	296.11	94	chr12	110628923	.	G	A	296.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.906;DP=1262;ExcessHet=2.8389;FS=190.894;InbreedingCoeff=-0.329;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.048;SOR=10.732	GT:AD:DP:GQ:PL	0/1:111,41:152:16:16,0,1776	5	0	5	0
chr12	110898984	110898984	G	C	exonic	CCDC63	.	nonsynonymous SNV	CCDC63:NM_001286244:exon8:c.G964C:p.G322R,CCDC63:NM_001286243:exon9:c.G1081C:p.G361R,CCDC63:NM_152591:exon10:c.G1201C:p.G401R	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0042602852626	.	.	1.652e-05	0	0	0	0	3.002e-05	0	0	1.29e-05	2	154602	rs116589141	2.054e-06	2.052e-06	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.17881	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.828335	0.06926	N	1.081060	1	0.08975	N	-1.78	0.00307	N	2.03	0.20959	T	2.23	0.00314	N	0.146	0.15187	-0.8828	0.49537	T	0.011	0.04088	T	10	0.019711167	0.00444	T	0.00426	0.10310	T	0.033	0.08068	0.294	0.25720	0.0482279557977	0.04254	0.4559833808952731	0.45516	0.0583062659332	0.06459	0.265920877457	0.05616	T	0.005012	0.05598	T	-0.391959	0.02613	T	-0.785312	0.02297	T	0.0704515230100885	0.08714	T	0.219778	0.02813	T	0.0387586	0.05224	0.071664274	0.15372	0.0387586	0.05224	0.071664274	0.15371	-1.951	0.03640	T	.	.	0.059	0.02038	B	.;.;.	.;.;.	-0.377577	0.02298	0.242	0.38014214992291601	0.02539	0.01123	0.04093	N	AEFI	0.026759	0.02066	N	-2.07099423376929	0.00148	0.006345566	-2.0804468919051	0.00205	0.009050337	0.864385628402124	0.25288	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.49	-8.98	0.00647	0.046000	0.13919	0.458000	0.18589	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2777:0.5795:0.1429:0.0	9.437	0.37812	152	0.94023	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1478.14	35	chr12	110898984	.	G	C	1478.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.716;DP=407;ExcessHet=0.2348;FS=3.464;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.02;SOR=0.426	GT:AD:DP:GQ:PL	0/1:27,40:67:99:949,0,530	8	0	2	0
chr12	111418869	111418869	C	T	exonic	SH2B3	.	nonsynonymous SNV	SH2B3:NM_005475:exon2:c.C724T:p.P242S	Erythrocytosis, somatic;Myelofibrosis, somatic;Thrombocythemia, somatic	7	1511	4	0	0	4	0.00132188	.	.	.	3883049	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.230	.	.	0.0127796	0.0012	0	0	0	.	0	0	0.0015	0.0006792	105	154602	rs78894077	0.0010	0.0010	0.0010	0.0009	0.0400	0.0009	0.0009	0.0380	0.0373	0	0	0	0.0400	0	0.0006	1.459e-05	0.0010	0.0002	0.0019	0.0019	0.0017	0.0022	0.0553	0.0018	0.0017	0.0501	0.0480	0	0	0.0003	0	0.0553	0	0	4.41e-05	0.0005	0	0.006	0.61437	D	0.04	0.50809	D	0.987	0.61912	D	0.887	0.62952	P	0.005938	0.32398	N	0.295873	0.999999	0.58761	D	2.595	0.75868	M	1.51	0.30937	T	-5.92	0.88963	D	0.557	0.58202	-1.0377	0.18016	T	0.014	0.05561	T	10	0.0091224015	0.00206	T	.	.	.	0.230	0.53062	.	.	0.916629319031	0.91578	0.6939273566364391	0.69333	0.341851203448	0.36127	0.72982108593	0.71479	T	0.868779	0.97148	D	-0.408888	0.02022	T	-0.321386	0.42422	T	0.198888038828519	0.20355	T	0.785321	0.42297	T	0.46226907	0.64812	0.46003574	0.68636	0.42637244	0.62514	0.39333284	0.64055	-10.541	0.77082	D	0.7243626657582629	0.80568	0.806	0.77560	P	.	.	4.736912	0.76355	26.5	0.9986824941115876	0.94637	0.98109	0.79674	D	AEFDBCI	0.759223	0.69762	D	0.632464947141006	0.75239	6.270884	0.571107593678874	0.72876	5.879707	0.999999999928782	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.87	3.87	0.43823	6.878000	0.75368	7.309000	0.58118	0.519000	0.23678	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	16.219	0.82064	613	0.66686	Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	658.43	39	chr12	111418869	.	C	T	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.03;SOR=0.746	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1228	9	0	1	0
chr12	111448012	111448035	TCCCTTCCTCACTGGGATTCAGAG	-	exonic	SH2B3	.	nonframeshift deletion	SH2B3:NM_001291424:exon7:c.832_855del:p.D283_W290del,SH2B3:NM_005475:exon8:c.1438_1461del:p.D485_W492del	Erythrocytosis, somatic;Myelofibrosis, somatic;Thrombocythemia, somatic	2	1518	2	0	0	2	0.000658328	.	.	.	2416979	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0014	9.632e-05	0.0004	0	0.0014	0.0015	0.0011	0.0031	0.0001537	4	26028	rs537932422	0.0009	0.0009	0.0008	0.0010	0.0025	0.0008	0.0008	0.0022	0.0021	0.0001	0.0002	0	0.0001	0.0012	0.0002	0.0009	0.0006	0.0025	0.0005	0.0005	0.0005	0.0006	0.0023	0.0004	0.0004	0.0013	0.0010	9.63e-05	0	0.0002	0	0	0.0005	0	0.0009	0.0005	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1522.39	39	chr12	111448011	.	CTCCCTTCCTCACTGGGATTCAGAG	C	1522.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=528;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.942;SOR=0.836	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5962.79	39	chr12	111598993	.	C	*	5962.79	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.778;DP=328;ExcessHet=1.4371;FS=2.976;InbreedingCoeff=-0.0989;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.67;ReadPosRankSum=-0.77;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:24:72:1|1:111598949_GGCT_G:963,963,963:111598949	9	0	1	0
chr12	111712604	111712604	C	T	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_025247:exon6:c.C797T:p.P266L,ACAD10:NM_001136538:exon7:c.C890T:p.P297L	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0002	0.00399361	0.0019	0	0.0002	0.0003	0	0.0003	0.0022	0.0124	0.0016753	259	154602	rs145407775	0.0009	0.0009	0.0005	0.0012	0.0109	0.0008	0.0008	0.0104	0.0101	2.987e-05	0.0002	0.0003	0.0002	1.872e-05	0.0028	0.0002	0.0011	0.0109	0.0006	0.0006	0.0005	0.0007	0.0120	0.0005	0.0005	0.0095	0.0087	4.815e-05	0	0.0005	0	0.0004	0	0.0034	0.0003	0	0.0120	0.004	0.72154	D	0.009	0.76473	D	0.858	0.47274	P	0.196	0.36635	B	0.019385	0.27268	N	0.383881	0.999999	0.81001	D	2.76	0.80626	M	1.55	0.29866	T	-6.95	0.97995	D	0.475	0.53884	-0.8197	0.53952	T	0.161	0.49648	T	10	0.004577875	0.00095	T	.	.	.	0.210	0.50028	.	.	0.58324101046	0.57996	0.19678787591515753	0.19595	0.612876557158	0.55879	0.425860136747	0.28642	T	0.587476	0.86585	D	-0.377863	0.03214	T	-0.306156	0.44072	T	0.166104845988205	0.18311	T	0.920008	0.71084	D	0.14627272	0.33493	0.19618455	0.43335	0.14627272	0.33493	0.19618455	0.43334	-9.631	0.71672	D	.	.	0.238	0.54710	B	.;.;.;.	.;.;.;.	4.194203	0.63243	24.6	0.99823446212293299	0.90590	0.96422	0.69061	D	AEFDBI	0.391389	0.46985	N	0.21488412218087	0.51920	3.369699	0.161607456723476	0.47759	3.001454	0.976038998431543	0.29688	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.03	5.03	0.67015	5.284000	0.65431	7.539000	0.60051	0.581000	0.30040	0.998000	0.41325	1.000000	0.68203	0.688000	0.33778	0.0:1.0:0.0:0.0	17.918	0.88878	517	0.74620	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004036	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.015152	0.05	566.43	34	chr12	111712604	.	C	T	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.594;DP=369;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-2.154;SOR=1.125	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1218	9	0	1	0
chr12	111803962	111803962	G	A	exonic	ALDH2	.	nonsynonymous SNV	ALDH2:NM_001204889:exon11:c.G1369A:p.E457K,ALDH2:NM_000690:exon12:c.G1510A:p.E504K	Alcohol sensitivity, acute, Autosomal dominant	0	1519	2	1	0	4	0.00131492	.	.	.	33429	ethanol_response_-_Toxicity|Alcohol_dependence|ALDH2-related_disorder|Alcohol_sensitivity,_acute|AMED_syndrome,_digenic|Susceptibility_to_hangover|SUBLINGUAL_NITROGLYCERIN,_SUSCEPTIBILITY_TO_POOR_RESPONSE_TO|ESOPHAGEAL_CANCER,_ALCOHOL-RELATED,_SUSCEPTIBILITY_TO	.|Human_Phenotype_Ontology:HP:0030955,MONDO:MONDO:0007079,MedGen:C0001973,OMIM:103780|.|MONDO:MONDO:0012454,MedGen:C2674838,OMIM:610251|MONDO:MONDO:0030894,MedGen:C5436906,OMIM:619151,Orphanet:611216|MedGen:C2608086|MedGen:C2676227|MedGen:C3149226	reviewed_by_expert_panel	drug_response	.	.	.	.	.	.	.	.	0.603	.	.	0.0357428	0.0213	0.0001	0.0011	0.2660	0	6.2e-05	0.0045	0.0002	0.0148122	2290	154602	rs671	0.0070	0.0070	0.0070	0.0069	0.2461	0.0068	0.0068	0.2420	0.2403	0.0001	0.0003	0	0.2461	3.771e-05	0.0002	3.607e-05	0.0059	0.0002	0.0078	0.0080	0.0067	0.0090	0.2249	0.0075	0.0073	0.2141	0.2098	0.0002	0	0.0009	0	0.2249	9.436e-05	0	2.94e-05	0.0047	0.0008	0.001	0.78490	D	0.018	0.59732	D	0.964	0.55854	D	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1.51794e-07	0.58761	P	1.275	0.32135	L	-1.13	0.77719	T	-3.42	0.67589	D	0.48	0.51494	-1.1143	0.02725	T	0.001	0.00318	T	9	0.001886636	0.00026	T	.	.	.	0.603	0.84345	.	.	.	.	0.8914064971685514	0.89110	1.0029003514	0.74471	0.694746732712	0.66387	T	0.720783	0.92107	D	-0.10205	0.36085	T	0.224456	0.84397	D	0.101933660921122	0.12568	T	0.987751	0.95824	D	0.9531528	0.96586	0.9483129	0.98297	0.9531528	0.96587	0.9483129	0.98297	-11.753	0.85911	D	.	.	0.902	0.82877	P	.;.	.;.	5.371320	0.90048	31	0.99923974063030097	0.98917	0.99838	0.99773	D	AEFDBI	0.970794	0.99299	D	0.852133059192022	0.89230	9.886821	0.865479742025659	0.93886	12.351	0.999999999999567	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	9.784000	0.98199	9.925000	0.82535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	20.609	0.99471	331	0.86429	.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001011	0.000000	0.001359	0.000000	0.000000	0.000000	0.003086	0.000000	0.05	806.43	34	chr12	111803962	.	G	A	806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.005;DP=405;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-0.324;SOR=0.581	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	9	0	1	0
chr12	112043740	112043740	G	A	exonic	NAA25	.	nonsynonymous SNV	NAA25:NM_024953:exon18:c.C2135T:p.S712L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0384994936889	.	.	0.0001	0	0.0002	0	0	5.998e-05	0.0022	0.0006	0.0001164	18	154602	rs751642260	0.0001	0.0001	8.439e-05	0.0001	0.0016	0.0001	9.633e-05	0.0008	0.0006	0	0.0002	0	0	1.872e-05	0.0016	7.194e-05	0.0001	0.0008	9.198e-05	9.187e-05	0.0001	5.375e-05	0.0004	5.527e-05	4.364e-05	9.049e-05	7.013e-05	0	0	6.544e-05	0	0	0	0	0.0002	0	0.0004	0.009	0.57480	D	0.009	0.66756	D	0.992	0.64738	D	0.543	0.48966	P	0.000008	0.62929	D	0.065335	1	0.81001	D	2.175	0.60977	M	1.84	0.24656	T	-1.23	0.31170	N	0.49	0.52386	-1.1346	0.01574	T	0.067	0.27434	T	10	0.17185768	0.31927	T	0.038499	0.58257	D	0.140	0.37593	.	.	0.102598925029	0.09809	0.4762433543397611	0.47544	0.984425732197	0.73851	0.51689696312	0.41189	T	0.010988	0.09859	T	-0.267331	0.12056	T	-0.260985	0.48727	T	0.199279843438852	0.20376	T	0.955704	0.83186	D	0.104215756	0.24636	0.15762152	0.36848	0.104215756	0.24636	0.15762152	0.36847	-4.969	0.36501	T	.	.	0.099	0.16713	B	.	.	4.494942	0.70253	25.5	0.99890766374674844	0.96513	0.99656	0.98396	D	AEFBI	0.860245	0.77808	D	0.460588642701533	0.64807	4.743657	0.571146609334454	0.72880	5.880149	0.999999977127608	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.79	5.79	0.91751	9.460000	0.96806	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	20.047	0.97612	130	0.94779	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1267.43	33	chr12	112043740	.	G	A	1267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.598;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.979;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,996	9	0	1	0
chr12	112193519	112193519	C	A	exonic	HECTD4	.	nonsynonymous SNV	HECTD4:NM_001109662:exon57:c.G8935T:p.G2979C	.	422	1099	1	0	0	1	0.000454752	.	.	.	2382132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.437	0.00643437999803	.	.	0.0002	0	0.0008	0	0	9.825e-05	0	0.0005	0.0001229	19	154602	rs767409810	8.219e-05	8.482e-05	5.177e-05	0.0001	0.0007	7.01e-05	6.56e-05	0.0006	0.0005	0	0.0002	0	0	0	0.0003	3.69e-05	0.0001	0.0007	6.567e-05	6.562e-05	7.709e-05	5.373e-05	0.0015	3.515e-05	2.615e-05	0.0007	0.0005	0	0	6.543e-05	0	0	0	0	2.94e-05	0	0.0015	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.911	0.91621	-0.3892	0.72368	T	0.318	0.68744	T	9	0.50458217	0.61744	D	0.006434	0.16927	T	0.437	0.74164	.	.	0.082315109003	0.07666	0.7450850558303902	0.74454	1.01584935357	0.74947	0.775492191315	0.78249	T	0.02863	0.20698	T	0.179354	0.71983	D	0.364792	0.90880	D	0.388711333274841	0.28515	T	0.935306	0.75759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.871945	0.79818	27.2	0.99663094106454519	0.78074	0.98911	0.88512	D	AEFBI	0.884025	0.81339	D	0.659167126379517	0.76964	6.584259	0.694871766853234	0.81987	7.657315	0.999999999994748	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	5.38	0.77279	7.513000	0.80629	4.902000	0.45868	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.136	0.93414	107	0.95615	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	981.43	36	chr12	112193519	.	C	A	981.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.903;DP=411;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=2.39;SOR=0.546	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	9	0	1	0
chr12	112883321	112883321	G	A	exonic	RPH3A	.	nonsynonymous SNV	RPH3A:NM_001347955:exon15:c.G1154A:p.R385Q,RPH3A:NM_014954:exon15:c.G1343A:p.R448Q,RPH3A:NM_001143854:exon16:c.G1355A:p.R452Q,RPH3A:NM_001347952:exon16:c.G1355A:p.R452Q,RPH3A:NM_001347953:exon16:c.G1355A:p.R452Q,RPH3A:NM_001347954:exon16:c.G1355A:p.R452Q	.	.	.	.	.	.	.	.	.	.	.	4055367	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.515	0.0667382511855	.	.	1.671e-05	0	0	0	0	1.515e-05	0	6.203e-05	1.29e-05	2	154602	rs767497432	5.473e-06	5.472e-06	5.445e-06	5.5e-06	1.16e-05	2.35e-06	1.7e-06	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	6.623e-05	1.16e-05	3.287e-05	3.284e-05	2.57e-05	4.038e-05	0.0003	1.261e-05	7.98e-06	8.881e-05	5.389e-05	2.415e-05	0	0.0003	0	0	0	0	0	0	0	0.104	0.30656	T	0.194	0.28860	T	0.998	0.77913	D	0.857	0.61067	P	0.000038	0.55875	D	0.000000	0.999992	0.58761	D	1.585	0.39878	L	-0.43	0.69657	T	-2.43	0.53258	N	0.743	0.74735	-0.3464	0.73658	T	0.360	0.72163	T	10	0.79450893	0.78949	D	0.066738	0.69964	D	0.515	0.79279	0.708	0.84418	0.625953378006	0.62290	0.4616818211851556	0.46086	0.997764433061	0.74304	0.775253772736	0.78213	T	0.307355	0.67951	T	0.0288302	0.55567	T	-0.0957338	0.63726	T	0.983204662799835	0.74958	D	0.882812	0.60466	D	0.231122	0.45879	0.2083395	0.45131	0.231122	0.45879	0.2083395	0.45130	-10.764	0.78348	D	0.7023406470652278	0.78148	0.751	0.75080	P	.;.;.;.;.	.;.;.;.;.	6.170267	0.94717	34	0.99953925859113724	0.99963	0.96455	0.69224	D	AEFBI	0.866012	0.78530	D	0.631396340693566	0.75168	6.258806	0.660655364220383	0.79405	7.075825	0.999664358679724	0.41534	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	6.505000	0.73620	11.834000	0.97615	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	18.029	0.89200	88	0.96322	C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2028.43	35	chr12	112883321	.	G	A	2028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=525;ExcessHet=0;FS=1.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.587;SOR=0.69	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr12	113127832	113127832	G	A	exonic	RASAL1	.	nonsynonymous SNV	RASAL1:NM_001193521:exon4:c.C278T:p.A93V,RASAL1:NM_001301202:exon4:c.C278T:p.A93V,RASAL1:NM_001193520:exon5:c.C278T:p.A93V,RASAL1:NM_004658:exon5:c.C278T:p.A93V	.	404	1089	28	1	0	30	0.013587	.	.	.	713346	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	.	0.0075	0.00738818	0.0084	0.0022	0.0042	0	0.0055	0.0101	0.0122	0.0139	0.0079624	1231	154602	rs146551951	0.0096	0.0096	0.0095	0.0097	0.0123	0.0094	0.0094	0.0117	0.0114	0.0022	0.0056	0.0071	5.043e-05	0.0056	0.0047	0.0103	0.0094	0.0123	0.0071	0.0071	0.0073	0.0069	0.0131	0.0067	0.0066	0.0105	0.0099	0.0017	0	0.0074	0.0066	0.0002	0.0043	0.0068	0.0109	0.0095	0.0131	0.342	0.12632	T	0.434	0.13557	T	0.184	0.40782	B	0.014	0.31843	B	0.059176	0.22344	N	0.493986	0.999842	0.20103	N	1.345	0.33447	L	2.98	0.09356	T	-0.72	0.22294	N	0.193	0.25622	-0.9761	0.35882	T	0.008	0.02884	T	10	0.0050355196	0.00108	T	.	.	.	0.017	0.02790	.	.	0.411401001288	0.40751	0.352845300908533	0.35198	0.294821894989	0.31898	0.385520458221	0.23036	T	0.011193	0.10021	T	-0.582659	0.00186	T	-0.598695	0.12921	T	0.00202395652669937	0.00021	T	0.776522	0.40874	T	0.049587294	0.08829	0.03540467	0.02787	0.049587294	0.08828	0.03540467	0.02786	-3.7	0.21328	T	0.14540798866455798	0.16692	0.082	0.10256	B	.;.;.;.	.;.;.;.	2.447649	0.31515	18.76	0.35405338665834779	0.02220	0.17063	0.19672	N	AEFDBI	0.135380	0.25569	N	-0.845387034176186	0.12163	0.5912431	-0.834392559455634	0.13663	0.7100093	0.856361246458402	0.25141	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	5.04	1.92	0.24912	0.501000	0.22286	1.671000	0.27955	-0.166000	0.11466	0.000000	0.06391	0.817000	0.27092	0.025000	0.12405	0.0865:0.1557:0.437:0.3209	3.130	0.06034	688	0.59122	.;C2 domain|C2 domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.010101	0.005435	0.005848	0.000000	0.008621	0.000000	0.007576	0.05	1845.43	33	chr12	113127832	.	G	A	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.549;DP=435;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-1.071;SOR=0.76	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr12	113195640	113195640	C	T	exonic	IQCD	.	nonsynonymous SNV	IQCD:NM_138451:exon3:c.G979A:p.G327S,IQCD:NM_001330452:exon5:c.G1285A:p.G429S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0056607326779	0.0003	0.000399361	0.0002	9.612e-05	8.64e-05	0	0	0.0001	0.0011	0.0005	0.0001488	23	154602	rs117969623	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0012	0.0009	0	2.236e-05	0.0002	0	0	0.0021	0.0001	0.0003	0.0005	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.761e-05	0.0002	0.0001	4.848e-05	0	0.0004	0	0	0	0	0.0002	0	0.0002	0.0	0.91255	D	0.267	0.22561	T	0.484	0.36838	P	0.241	0.38645	B	.	.	.	.	0.996295	0.43123	D	.	.	.	0.6	0.53943	T	-2.84	0.59873	D	0.187	0.20395	-1.0972	0.04447	T	0.091	0.34928	T	8	0.040820062	0.02683	T	0.005661	0.14651	T	0.135	0.36572	.	.	0.466230903105	0.46247	0.085403301131789	0.08474	0.125274018252	0.14122	0.242220818996	0.02994	T	0.034993	0.23541	T	-0.385282	0.02885	T	-0.480689	0.24373	T	0.0669139801470958	0.08211	T	0.365963	0.08520	T	0.27255806	0.50325	0.323194	0.58253	0.27255806	0.50324	0.323194	0.58252	-5.037	0.37250	T	.	.	0.115	0.23077	B	.;.	.;.	1.586822	0.20298	14.68	0.78811098136745938	0.12463	0.16809	0.19559	N	AEFBCI	0.134702	0.25480	N	-0.420084536060426	0.24766	1.33957	-0.432113367254151	0.24061	1.315493	0.994976096584844	0.33890	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.03	2.09	0.26154	0.206000	0.17174	0.041000	0.13868	0.599000	0.40250	0.416000	0.26298	0.009000	0.19889	0.725000	0.34934	0.0:0.7942:0.0:0.2058	8.238	0.30796	734	0.53889	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2550.43	33	chr12	113195640	.	C	T	2550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.736;DP=533;ExcessHet=0;FS=1.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.682;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	9	0	1	0
chr12	113320378	113320378	G	A	exonic	SLC8B1	.	nonsynonymous SNV	SLC8B1:NM_001358345:exon7:c.C647T:p.T216I,SLC8B1:NM_024959:exon7:c.C647T:p.T216I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0321174087055	.	.	8.248e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs778437458	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.467	0.12351	T	0.01	0.15535	B	0.038	0.23361	B	0.000013	0.62929	N	0.065985	0.999998	0.81001	D	.	.	.	0.08	0.61559	T	-1.61	0.67359	N	0.286	0.32370	-0.9639	0.38428	T	0.151	0.47926	T	10	0.25349304	0.42717	T	0.032117	0.54029	D	0.125	0.34456	0.454	0.51775	0.664842147104	0.66202	0.5137012566316826	0.51292	0.201059955912	0.22505	0.455856740475	0.32744	T	0.17264	0.52121	T	-0.137677	0.30261	T	-0.266412	0.48183	T	0.309987246990204	0.25414	T	0.794021	0.43594	T	0.15868358	0.35686	0.16947533	0.38984	0.15868358	0.35686	0.16947533	0.38983	-9.091	0.68280	D	.	.	0.306	0.56357	B	.;.;.	.;.;.	2.854133	0.37691	20.6	0.98446388400926776	0.41575	0.96361	0.68762	D	AEFBI	0.615588	0.60247	D	-0.194453626945825	0.33364	1.892067	-0.0663699527351454	0.36790	2.145591	0.999988642996037	0.51787	0.706548	0.73137	0	0.708844	0.79440	0	0.67347	0.61138	0	0.714379	0.83352	0	.	.	4.47	3.55	0.39770	5.467000	0.66468	4.188000	0.42384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0901:0.0:0.9099:0.0	11.604	0.50277	828	0.39726	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1946.43	36	chr12	113320378	.	G	A	1946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.232;DP=487;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.063;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	9	0	1	0
chr12	113358755	113358755	A	G	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon1:c.A155G:p.D52G,PLBD2:NM_173542:exon1:c.A155G:p.D52G	.	438	1059	22	3	0	28	0.0130475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0021	0.00459265	0.0177	0	0	0	0	0.0264	0	0.0206	0.0018564	287	154602	rs200189038	0.0058	0.0055	0.0056	0.0061	0.0157	0.0057	0.0057	0.0149	0.0145	0.0004	0.0031	0.0129	0	0.0028	0.0105	0.0056	0.0058	0.0157	0.0045	0.0045	0.0043	0.0047	0.0162	0.0042	0.0041	0.0133	0.0122	0.0010	0	0.0039	0.0130	0.0004	0.0018	0.0137	0.0062	0.0047	0.0162	0.283	0.17069	T	0.496	0.12704	T	0.0	0.02946	B	0.001	0.04355	B	0.047936	0.01979	N	2.507700	1	0.08975	N	0.29	0.10111	N	2.23	0.18083	T	-0.01	0.07155	N	0.058	0.02964	-1.0125	0.26133	T	0.021	0.08686	T	10	0.0035566092	0.00064	T	.	.	.	0.052	0.14661	.	.	0.0920862733494	0.08535	0.33637053039387116	0.33550	0.470108560931	0.46299	0.632033109665	0.57433	T	0.004557	0.03968	T	-0.713791	0.00030	T	-0.792961	0.02084	T	0.00700592945269222	0.00080	T	0.272373	0.04609	T	0.11113813	0.26266	0.05130903	0.08232	0.11113813	0.26266	0.05130903	0.08232	-2.822	0.08388	T	.	.	0.059	0.00820	B	.;.	.;.	0.241555	0.06217	2.669	0.8070310520174433	0.13328	0.03588	0.08809	N	ALL	0.035199	0.04490	N	-1.25460861235835	0.04239	0.190929	-1.27970032880337	0.04705	0.2225803	0.999999999999881	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.28	-0.459	0.11571	-0.179000	0.09761	-0.178000	0.11160	-0.146000	0.12295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5822:0.0:0.4178:0.0	5.786	0.17597	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005624	0.012195	0.000000	0.003125	0.000000	0.030000	0.027778	0.000000	0.05	422.43	35	chr12	113358755	.	A	G	422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.667;DP=338;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=1.16;SOR=1.061	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,988:.	9	0	1	0
chr12	113436763	113436763	C	-	exonic	SDSL	.	frameshift deletion	SDSL:NM_001304993:exon7:c.684delC:p.L229Wfs*30,SDSL:NM_138432:exon8:c.684delC:p.L229Wfs*30	.	409	1092	19	2	0	23	0.0104214	.	.	.	713348	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0072	0.00199681	0.0053	0.0007	0.0043	0	0.0002	0.0081	0.0026	0.0017	0.0005763	15	26028	rs573188148	0.0050	0.0050	0.0050	0.0050	0.0153	0.0049	0.0049	0.0127	0.0118	0.0010	0.0064	0.0313	0.0001	0.0007	0.0153	0.0049	0.0064	0.0015	0.0044	0.0044	0.0043	0.0045	0.0062	0.0041	0.0040	0.0052	0.0050	0.0009	0	0.0062	0.0320	0.0002	0.0005	0.0102	0.0057	0.0123	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015625	0.005102	0.027174	0.020468	0.000000	0.017241	0.012195	0.000000	0.05	887.39	36	chr12	113436762	.	GC	G	887.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=387;ExcessHet=0;FS=2.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.563;SOR=0.817	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1096	9	0	1	0
chr12	113960083	113960083	G	T	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon3:c.C315A:p.D105E,RBM19:NM_001146699:exon3:c.C315A:p.D105E,RBM19:NM_016196:exon3:c.C315A:p.D105E	.	423	1098	1	0	0	1	0.000455166	.	.	.	3308895	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00137909186168	7.7e-05	.	8.237e-05	9.61e-05	0.0002	0	0	7.492e-05	0	0.0001	7.12e-05	11	154602	rs146764943	4.652e-05	4.652e-05	4.628e-05	4.675e-05	0.0005	3.727e-05	3.411e-05	0.0001	7.544e-05	0	0.0001	3.826e-05	0	0	0.0005	3.147e-05	0.0003	4.637e-05	8.54e-05	8.536e-05	0.0001	4.034e-05	0.0004	4.956e-05	3.962e-05	0.0002	0.0001	2.413e-05	0	0.0004	0	0	0	0	7.348e-05	0.0005	0	0.259	0.16628	T	0.424	0.13953	T	0.001	0.07471	B	0.001	0.04355	B	0.274521	0.15063	N	0.653494	1	0.08975	N	1.195	0.30194	L	3.52	0.04905	T	-0.2	0.10136	N	0.132	0.12913	-0.9247	0.44901	T	0.009	0.03315	T	10	0.04162994	0.02835	T	0.001379	0.02011	T	0.068	0.19811	0.218	0.13932	0.167679373172	0.16340	0.1420934170241329	0.14132	0.115394784814	0.13013	0.296946167946	0.09948	T	0.050726	0.28678	T	-0.569256	0.00224	T	-0.800428	0.01892	T	0.0203263518081323	0.00732	T	0.436756	0.11992	T	0.019116687	0.00437	0.034905422	0.02641	0.019116687	0.00437	0.034905422	0.02641	-3.354	0.14444	T	.	.	0.087	0.10979	B	.;.;.	.;.;.	0.865307	0.12376	8.916	0.94052934284312351	0.24183	0.27885	0.23401	N	AEFBCI	0.089428	0.18126	N	-1.07076595127551	0.07186	0.3330816	-1.05963301236464	0.08506	0.418624	0.00312457801702263	0.09942	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.86	0.889	0.18346	0.064000	0.14310	1.065000	0.23755	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.151000	0.20341	0.2856:0.2922:0.2727:0.1495	0.893	0.01179	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	742.43	37	chr12	113960083	.	G	T	742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.232;SOR=0.623	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1166	9	0	1	0
chr12	114394776	114394776	C	G	exonic	TBX5	.	nonsynonymous SNV	TBX5:NM_080717:exon5:c.G478C:p.A160P,TBX5:NM_000192:exon6:c.G628C:p.A210P,TBX5:NM_181486:exon6:c.G628C:p.A210P	Holt-Oram syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3525243	Cardiovascular_phenotype|not_provided|Aortic_valve_disease_2	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.553	0.0805632850795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489817375	6.84e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	3.286e-05	3.283e-05	6.423e-05	0	9.653e-05	1.261e-05	7.98e-06	3.25e-05	1.915e-05	9.653e-05	0	0	0	0	0	0	0	0.0005	0	0.03	0.46910	D	0.222	0.28764	T	0.991	0.64070	D	0.867	0.62825	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-2.35	0.88066	D	-0.95	0.26639	N	0.826	0.83781	0.371	0.88658	D	0.735	0.90944	D	10	0.7665634	0.76750	D	0.080563	0.73487	D	0.553	0.81544	0.434	0.48500	0.959890133301	0.95946	0.9323110139659497	0.93210	1.93690353185	0.93198	0.90032106638	0.96477	D	0.686669	0.90851	D	0.378262	0.88598	D	0.30557	0.88454	D	0.870420157909393	0.52033	D	0.933407	0.75038	D	0.90167314	0.91533	0.83167815	0.90294	0.90167314	0.91534	0.83167815	0.90295	-11.592	0.87813	D	0.22441384291702213	0.30306	0.988	0.94345	P	.;.;.;.	.;.;.;.	5.125932	0.85763	28.7	0.99736778234898493	0.83192	0.97406	0.74547	D	AEFBI	0.859820	0.77756	D	0.50236331732064	0.67228	5.053929	0.510916621769755	0.68723	5.259712	1.0	0.98316	0.446893	0.09132	0	0.563428	0.19063	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	5.75	5.75	0.90390	3.290000	0.51461	7.623000	0.62394	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.915000	0.45038	0.0:1.0:0.0:0.0	19.900	0.96980	946	0.12043	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	745.43	35	chr12	114394776	.	C	G	745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.358;DP=422;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.93;ReadPosRankSum=-0.05;SOR=0.648	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1192	9	0	1	0
chr12	115991196	115991196	G	A	exonic	MED13L	.	nonsynonymous SNV	MED13L:NM_015335:exon17:c.C3758T:p.T1253I	Mental retardation and distinctive facial features with or without cardiac defects, Autosomal dominant;Transposition of the great arteries, dextro-looped 1, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	684296	not_provided|MED13L-related_disorder|Transposition_of_the_great_arteries,_dextro-looped	MedGen:C3661900|.|MedGen:CN033072,OMIM:608808,Orphanet:860	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.146	0.00612592146233	0.0004	0.000798722	0.0010	0	0.0006	0	0.0003	0.0010	0	0.0025	0.0008926	138	154602	rs148416895	0.0007	0.0007	0.0006	0.0008	0.0027	0.0006	0.0006	0.0024	0.0023	8.961e-05	0.0005	0.0080	0	1.872e-05	0.0026	0.0004	0.0014	0.0027	0.0006	0.0006	0.0006	0.0005	0.0025	0.0005	0.0004	0.0014	0.0011	0	0	0.0006	0.0078	0	0	0	0.0005	0.0005	0.0025	0.106	0.29688	T	0.158	0.31629	T	0.037	0.20876	B	0.015	0.17295	B	0.007259	0.31508	N	0.394228	0.997324	0.43798	D	0.755	0.19153	N	-0.84	0.74265	T	-1.32	0.32991	N	0.393	0.43417	-0.6662	0.62000	T	0.311	0.68175	T	10	0.007294178	0.00166	T	0.006126	0.16023	T	0.146	0.38789	.	.	0.228066490088	0.22430	0.23372975000366997	0.23287	0.651573886625	0.58386	0.488649129868	0.37250	T	0.044292	0.26771	T	-0.352281	0.04585	T	-0.282795	0.46517	T	0.0331141835950786	0.02490	T	0.89601	0.63722	D	0.049798757	0.08899	0.076509774	0.16951	0.0480852	0.08323	0.07949073	0.17898	-3.917	0.22557	T	0.1592602246679176	0.19352	0.106	0.19679	B	.;.	.;.	2.873096	0.37996	20.6	0.99432254145064325	0.64325	0.99106	0.91314	D	AEFBI	0.673394	0.63947	D	0.0772604476774236	0.45404	2.79746	0.251104425330985	0.52711	3.444226	0.999999999999976	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.356000	0.65817	7.450000	0.58952	0.618000	0.50648	0.915000	0.31815	0.999000	0.35428	0.997000	0.79791	0.0:0.0:1.0:0.0	19.915	0.97058	968	0.07033	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	2476.43	34	chr12	115991196	.	G	A	2476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=548;ExcessHet=0;FS=9.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.355;SOR=1.03	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1218	9	0	1	0
chr12	116737810	116737810	G	A	exonic	SPRING1	.	nonsynonymous SNV	SPRING1:NM_001353623:exon1:c.C158T:p.P53L,SPRING1:NM_001353624:exon1:c.C91T:p.L31F,SPRING1:NM_001353625:exon1:c.C91T:p.L31F,SPRING1:NM_024738:exon1:c.C91T:p.L31F	.	341	1176	5	0	0	5	0.00212134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.119839453198	0.0002	0.000199681	0.0002	0.0001	9.171e-05	0.0015	0	0.0001	0.0012	0.0001	0.0001682	26	154602	rs199555935	0.0001	0.0001	9.933e-05	0.0001	0.0028	9.593e-05	9.068e-05	0.0017	0.0014	6.395e-05	2.292e-05	0	0.0019	1.885e-05	0.0028	5.261e-05	0.0002	7.008e-05	0.0001	0.0001	0.0001	0.0001	0.0014	8.662e-05	7.255e-05	0.0006	0.0005	9.625e-05	0	0	0	0.0014	0	0.0034	0.0001	0	0.0002	0.026	0.46910	D	0.18	0.29442	T	0.06	0.23119	B	0.029	0.21540	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.825	0.47900	L	0.77	0.49642	T	-1.69	0.40274	N	0.452	0.48963	-0.9095	0.46916	T	0.102	0.37718	T	10	0.043843806	0.03277	T	0.119839	0.80023	D	0.076	0.22200	.	.	0.734798047088	0.73243	0.649437564787553	0.64879	0.375535986837	0.39009	.	.	.	0.01396	0.11978	T	-0.360278	0.04114	T	-0.325669	0.41950	T	0.0238335153438272	0.01124	T	0.826217	0.48957	T	0.27804795	0.50860	0.20243077	0.44271	0.27804795	0.50860	0.20243077	0.44270	-4.39	0.29421	T	.	.	0.237	0.47083	B	.	.	4.412268	0.68264	25.2	0.99557936780448186	0.71583	0.98932	0.88807	D	ALL	0.643365	0.62000	D	0.341112496173373	0.58271	3.998497	0.416512855052622	0.62594	4.477378	0.999999999230258	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.75	4.75	0.59954	4.451000	0.59788	9.561000	0.80994	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.827:0.173	11.931	0.52133	648	0.63242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002191	0.005495	0.001359	0.009524	0.000000	0.000000	0.000000	0.000000	0.05	739.43	52	chr12	116737810	.	G	A	739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.237;DP=454;ExcessHet=0;FS=3.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.068;SOR=0.509	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1178	9	0	1	0
chr12	117024319	117024319	G	A	exonic	FBXW8	.	nonsynonymous SNV	FBXW8:NM_012174:exon9:c.G1342A:p.G448R,FBXW8:NM_153348:exon9:c.G1540A:p.G514R	.	429	1084	8	1	0	10	0.00459137	0	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00332819352193	0.0015	0.000399361	0.0013	0.0004	0.0009	0	0.0003	0.0017	0	0.0013	0.0013066	202	154602	rs142010584	0.0013	0.0013	0.0013	0.0013	0.0187	0.0013	0.0013	0.0159	0.0148	0.0005	0.0011	0.0013	0	0.0002	0.0187	0.0014	0.0013	0.0012	0.0012	0.0012	0.0013	0.0012	0.0022	0.0011	0.0010	0.0016	0.0015	0.0003	0.0022	0.0022	0.0006	0	0	0.0204	0.0019	0.0009	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.002	0.11197	B	0.0	0.01387	B	0.000000	0.84330	N	0.047074	0.836	0.29226	N	-1.845	0.00268	N	3.43	0.05440	T	1.53	0.00711	N	0.293	0.33140	-0.9674	0.37733	T	0.006	0.01907	T	10	0.011959314	0.00259	T	0.003328	0.07421	T	0.098	0.28162	0.473	0.54859	0.244539031024	0.24083	.	.	0.157109992613	0.17741	0.331533193588	0.15166	T	0.16524	0.51102	T	-0.587322	0.00174	T	-0.6229	0.10960	T	0.00225716817220285	0.00023	T	0.822818	0.48291	T	0.07987753	0.18273	0.097957656	0.23335	0.07987753	0.18273	0.097957656	0.23335	-0.805	0.00807	T	.	.	0.079	0.07460	B	.;.	.;.	1.015592	0.13947	10.51	0.18951988614882864	0.00618	0.32919	0.24702	N	AEFGBI	0.042743	0.06672	N	-0.941593257564887	0.09882	0.4697278	-0.723344858370676	0.16380	0.8662315	0.989217057410612	0.31756	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.48	3.15	0.35301	2.536000	0.45351	3.059000	0.36152	-0.116000	0.14526	1.000000	0.71638	0.977000	0.30130	0.391000	0.26581	0.5932:0.3263:0.0805:0.0	7.392	0.26086	959	0.08690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014099	0.010101	0.009511	0.029240	0.000000	0.017241	0.015244	0.003788	0.05	881.43	34	chr12	117024319	.	G	A	881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=386;ExcessHet=0;FS=0.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=0.321;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1088	9	0	1	0
chr12	117157954	117157954	A	C	exonic	FBXO21	.	nonsynonymous SNV	FBXO21:NM_015002:exon10:c.T1436G:p.V479G,FBXO21:NM_033624:exon10:c.T1457G:p.V486G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0109137514442	.	.	3.296e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs549960201	6.841e-06	6.84e-06	5.445e-06	8.25e-06	0.0003	3.46e-06	2.52e-06	6.096e-05	2.662e-05	0	0	0	0	0	0.0003	0	1.656e-05	8.116e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.05954	T	0.449	0.13713	T	0.005	0.26577	B	0.004	0.23121	B	0.000201	0.47681	D	0.141600	0.999983	0.54805	D	0.345	0.11182	N	0.86	0.46777	T	-1.12	0.50502	N	0.287	0.34552	-1.0519	0.13872	T	0.067	0.27708	T	10	0.07143137	0.10528	T	0.010914	0.27979	T	0.068	0.19811	0.317	0.29419	0.460303613973	0.45655	0.7751183186624536	0.77461	1.11315332147	0.78103	0.393591850996	0.24175	T	0.022299	0.35161	T	-0.285746	0.10067	T	-0.411562	0.32046	T	0.25584751367569	0.23133	T	0.626337	0.24523	T	0.08467941	0.19610	0.06663031	0.13674	0.08467941	0.19609	0.06663031	0.13673	-4.115	0.25511	T	.	.	0.071	0.12797	B	.;.;.;.	.;.;.;.	3.498950	0.48948	22.7	0.93173070731050622	0.22830	0.90465	0.51663	D	AEFDBI	0.255431	0.37455	N	-0.218024208979803	0.32394	1.826435	-0.0160886268482261	0.38988	2.30498	0.99951962141104	0.40117	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.639000	0.46236	11.193000	0.88739	0.756000	0.94297	0.966000	0.33990	1.000000	0.68203	0.988000	0.63387	0.7685:0.0:0.0794:0.1521	5.603	0.16646	933	0.16026	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	987.43	34	chr12	117157954	.	A	C	987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.703;DP=422;ExcessHet=0;FS=2.378;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-1.182;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	9	0	1	0
chr12	117539745	117539745	C	T	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon10:c.G1661A:p.R554Q	.	427	1065	29	1	0	31	0.0143452	.	.	.	718017	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.379	.	0.0091	0.00459265	0.0081	0.0010	0.0068	0.0001	0.0017	0.0105	0.0106	0.0099	0.0076196	1178	154602	rs56214831	0.0084	0.0084	0.0084	0.0084	0.0124	0.0083	0.0082	0.0100	0.0091	0.0012	0.0070	0.0277	7.683e-05	0.0020	0.0124	0.0087	0.0089	0.0092	0.0068	0.0068	0.0071	0.0066	0.0107	0.0065	0.0064	0.0093	0.0088	0.0014	0.0077	0.0107	0.0294	0.0002	0.0013	0.0170	0.0094	0.0057	0.0079	0.566	0.06543	T	0.442	0.13252	T	0.288	0.32258	B	0.02	0.19048	B	0.000024	0.55875	D	0.111526	0.999979	0.53665	D	0.94	0.23649	L	-1.15	0.77964	T	0.37	0.03639	N	0.522	0.56403	-0.5338	0.67397	T	0.246	0.61530	T	10	0.008792639	0.00199	T	.	.	.	0.379	0.69696	.	.	0.667463514677	0.66466	0.3097378868121771	0.30886	1.79226602558	0.91530	0.667781233788	0.62521	T	0.218811	0.58164	T	-0.311289	0.07636	T	-0.209533	0.53740	T	0.0413929799216951	0.03943	T	0.951405	0.81464	D	0.120452665	0.28344	0.1019575	0.24422	0.120452665	0.28344	0.1019575	0.24422	-2.924	0.09386	T	.	.	0.221	0.45124	B	.;.	.;.	3.739757	0.53540	23.4	0.99363970985552119	0.61155	0.99743	0.99133	D	AEFDBI	0.937285	0.93483	D	-0.0874001848480555	0.37944	2.214994	0.135401763960851	0.46374	2.884342	0.999999999610757	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	7.905000	0.86479	7.686000	0.65553	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.805	0.91998	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009356	0.000000	0.004076	0.008982	0.000000	0.008621	0.019231	0.015625	0.05	1744.43	36	chr12	117539745	.	C	T	1744.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.37;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.203;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1177	9	0	1	0
chr12	117761028	117761028	G	C	exonic	KSR2	.	nonsynonymous SNV	KSR2:NM_173598:exon4:c.C969G:p.D323E	.	433	1051	35	3	0	41	0.0191321	.	.	.	1590532	not_provided|KSR2-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.110	.	0.0025	0.0103834	0.0082	0.0002	0.0036	0.0001	0.0002	0.0037	0.0068	0.0414	0.0071927	1112	154602	rs141457085	0.0043	0.0043	0.0032	0.0056	0.0402	0.0043	0.0042	0.0391	0.0386	0.0004	0.0030	0.0071	0.0001	0.0002	0.0236	0.0019	0.0057	0.0402	0.0032	0.0032	0.0029	0.0035	0.0342	0.0030	0.0029	0.0299	0.0283	0.0005	0.0044	0.0041	0.0086	0.0004	0.0003	0.0340	0.0027	0.0057	0.0342	0.383	0.11085	T	0.519	0.10714	T	0.015	0.17086	B	0.01	0.14941	B	0.000015	0.62929	N	0.111914	0.881963	0.35769	D	0.815	0.20815	L	0.64	0.52867	T	-1.16	0.29727	N	0.212	0.23632	-1.1020	0.03857	T	0.065	0.26948	T	10	0.0028678179	0.00046	T	.	.	.	0.110	0.31079	0.289	0.24921	0.390598846067	0.38674	0.3763064201691893	0.37544	0.643779572933	0.57903	0.589513301849	0.51426	T	0.296005	0.66865	T	-0.589331	0.00169	T	-0.590034	0.13662	T	0.00410477713333887	0.00044	T	0.70223	0.31206	T	0.05982418	0.12203	0.0596812	0.11241	0.05982418	0.12202	0.0596812	0.11241	-3.052	0.10752	T	.	.	0.073	0.08705	B	.;.	.;.	-0.802662	0.01101	0.050	0.95443789358171249	0.26955	0.19524	0.20694	N	AEFDBI	0.369826	0.45641	N	-0.958532844071779	0.09502	0.450003	-0.952319441677368	0.10869	0.5502401	0.0015609673761638	0.08639	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.23	-2.89	0.05326	-2.914000	0.00763	-6.349000	0.01424	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.908000	0.44358	0.4978:0.2198:0.2823:0.0	6.890	0.23403	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.015641	0.000000	0.013587	0.008772	0.055556	0.025862	0.030675	0.022727	0.05	465.43	33	chr12	117761028	.	G	C	465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=370;ExcessHet=0;FS=1.29;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.69;SOR=0.412	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1034	9	0	1	0
chr12	118095560	118095560	A	G	exonic	VSIG10	.	nonsynonymous SNV	VSIG10:NM_019086:exon2:c.T334C:p.W112R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00167589656828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.08140	T	0.133	0.34359	T	0.007	0.14184	B	0.011	0.15521	B	0.539684	0.11549	N	0.742530	1	0.08975	N	2.585	0.75554	M	2.04	0.20808	T	-0.35	0.12847	N	0.249	0.28146	-0.9824	0.34445	T	0.028	0.11795	T	10	0.056750834	0.06409	T	0.001676	0.02753	T	0.073	0.21317	0.488	0.57257	0.0297737177859	0.01360	0.38784832351288734	0.38699	0.358169936136	0.37530	0.445121705532	0.31277	T	0.001103	0.06874	T	-0.149119	0.28450	T	-0.451975	0.27480	T	0.059229404019872	0.07047	T	0.433757	0.11839	T	0.077518985	0.17599	0.0528974	0.08804	0.077518985	0.17598	0.0528974	0.08803	-1.078	0.01089	T	.	.	0.220	0.45024	B	.;.	.;.	1.684661	0.21469	15.21	0.85287938938714747	0.15800	0.04089	0.09551	N	AEFDGBI	0.043484	0.06880	N	-0.713293566445435	0.15647	0.7904071	-0.644558574901326	0.18354	0.9801184	4.60472203157962E-4	0.07036	0.722319	0.85440	0	0.573888	0.26702	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.99	1.18	0.20058	0.728000	0.25682	0.460000	0.18609	0.756000	0.94297	0.279000	0.25131	0.000000	0.08366	0.998000	0.85391	0.4313:0.1749:0.0937:0.3	1.010	0.01402	968	0.07033	Immunoglobulin subtype;Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1170.43	33	chr12	118095560	.	A	G	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.905;DP=466;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=-1.171;SOR=0.8	GT:AD:DP:GQ:PL	0/1:81,58:139:99:1182,0,2079	9	0	1	0
chr12	119156703	119156720	AGCCGGAGCCGGAGCAGG	-	exonic	SRRM4	.	nonframeshift deletion	SRRM4:NM_194286:exon13:c.1741_1758del:p.R590_S595del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.592e-06	1.026e-05	2.827e-06	1.451e-05	0.0002	4.58e-06	3.62e-06	9.113e-05	6.506e-05	3.17e-05	0.0002	0	0	2.095e-05	0.0002	9.267e-07	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	887.1	33	chr12	119156702	.	CAGCCGGAGCCGGAGCAGG	C	887.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.05;DP=279;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=1.18;SOR=0.533	GT:AD:DP:GQ:PL	0/1:7,11:18:99:428,0,260	8	0	2	0
chr12	119156707	119156707	G	0	exonic	SRRM4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	298.74	34	chr12	119156707	.	G	*	298.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.835;DP=290;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.93;ReadPosRankSum=-1.07;SOR=0.61	GT:AD:DP:GQ:PL	0/1:7,11:18:99:428,0,260	8	0	2	0
chr12	119472023	119472023	G	T	exonic	CCDC60	.	nonsynonymous SNV	CCDC60:NM_178499:exon3:c.G200T:p.R67L	.	387	1130	4	0	1	5	0.00176678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.019408702323	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs144740799	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.008	0.67890	D	0.98	0.59353	D	0.83	0.59611	P	0.023712	0.26392	N	0.253027	0.993426	0.23714	N	2.14	0.59869	M	1.73	0.26445	T	-3.6	0.69357	D	0.6	0.61849	-1.0481	0.14932	T	0.096	0.36212	T	9	0.51543266	0.62338	D	0.019409	0.41765	T	0.187	0.46274	0.534	0.64293	0.112648838833	0.10856	0.28828721464385365	0.28741	0.395261828692	0.40672	0.297939181328	0.10094	T	0.048589	0.28061	T	-0.130194	0.31464	T	-0.424791	0.30527	T	0.753589034080505	0.43486	D	0.743326	0.36245	T	0.10240317	0.24197	0.14615414	0.34636	0.10240317	0.24197	0.14615414	0.34635	-3.989	0.23639	T	.	.	0.287	0.51951	B	.	.	2.639149	0.34336	19.60	0.99129303801406465	0.53222	0.38661	0.26038	N	AEFBI	0.091700	0.18571	N	-0.378587766371802	0.26233	1.430169	-0.514611729863784	0.21757	1.178451	2.09772574773633E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.22	2.0	0.25495	0.935000	0.28523	1.210000	0.24900	-0.700000	0.04059	0.475000	0.26761	0.596000	0.25695	0.139000	0.19909	0.399:0.0:0.601:0.0	5.457	0.15894	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1672.43	33	chr12	119472023	.	G	T	1672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=438;ExcessHet=0;FS=1.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.187;SOR=0.537	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	9	0	1	0
chr12	120687345	120687347	CTG	-	exonic	MLEC	.	nonframeshift deletion	MLEC:NM_001303628:exon1:c.49_51del:p.L22del,MLEC:NM_014730:exon1:c.49_51del:p.L22del	.	428	1084	2	1	7	11	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0269	.	0.0116	0.0198	0.0213	0.0156	0.0057	0.0118	0.03	0.0108	0.0001537	4	26028	rs772341467	0.0007	0.0049	0.0006	0.0009	0.0034	0.0007	0.0007	0.0030	0.0028	0.0003	0.0009	0.0010	0.0003	0.0014	0.0005	0.0006	0.0008	0.0034	0	3.288e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042203	0.056180	0.044776	0.021583	0.071429	0.015625	0.034483	0.023529	0.05	57.39	34	chr12	120687344	.	ACTG	A	57.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.598;DP=291;ExcessHet=0;FS=2.35;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.604;SOR=0.191	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,600	9	0	1	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.1	2457.14	34	chr12	120739317	.	A	G	2457.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.057;DP=537;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.386;SOR=0.691	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1387,0,1561	8	0	2	0
chr12	121038949	121038949	T	C	exonic	OASL	.	nonsynonymous SNV	OASL:NM_001261825:exon1:c.A23G:p.Y8C,OASL:NM_003733:exon1:c.A23G:p.Y8C,OASL:NM_198213:exon1:c.A23G:p.Y8C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0138925104751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.45039	D	0.097	0.60337	T	1.0	0.90584	D	0.99	0.78936	D	0.391117	0.13254	N	0.685486	0.999999	0.08975	N	2.545	0.74286	M	3.03	0.08898	T	-6.92	0.93786	D	0.435	0.50778	-1.0969	0.04487	T	0.061	0.25563	T	10	0.3246258	0.49784	T	0.013893	0.33629	T	0.116	0.32463	0.393	0.41770	0.471539375507	0.46780	0.41529224627688377	0.41445	0.506076824733	0.48830	0.413461863995	0.26936	T	0.291252	0.66401	T	-0.120227	0.33087	T	-0.410474	0.32170	T	0.914832711219788	0.57163	D	0.880812	0.59928	D	0.27048865	0.50121	0.22963075	0.48040	0.27048865	0.50120	0.22963075	0.48039	-6.327	0.49891	T	.	.	0.244	0.47816	B	.;.;.	.;.;.	2.543777	0.32911	19.18	0.98389235681295373	0.40936	0.45949	0.27652	N	AEFDGBHCI	0.147276	0.27091	N	-0.340081995042455	0.27637	1.517973	-0.58044034124063	0.20004	1.075784	0.999997660046784	0.74766	0.437478	0.07067	0	0.484254	0.07192	0	0.547309	0.15389	0	0.603991	0.37454	0	.	.	5.66	0.111	0.13925	0.244000	0.17899	0.526000	0.19207	-0.157000	0.11712	0.073000	0.22155	0.184000	0.23444	0.002000	0.04165	0.5861:0.0:0.0:0.4139	9.854	0.40246	662	0.61715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1269.43	36	chr12	121038949	.	T	C	1269.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.91;DP=406;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.4;SOR=0.49	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1221	9	0	1	0
chr12	121184747	121184747	G	A	exonic	P2RX7	.	nonsynonymous SNV	P2RX7:NM_002562:exon13:c.G1733A:p.R578Q	.	415	1089	17	1	0	19	0.00864816	.	.	.	437949	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.292	0.0248566436925	0.0025	0.00319489	0.0061	0.0005	0.0052	0	0	0.0070	0	0.0077	0.0025485	394	154602	rs28360460	0.0054	0.0053	0.0053	0.0055	0.0081	0.0053	0.0052	0.0075	0.0073	0.0010	0.0025	0.0053	0.0001	0.0013	0.0067	0.0058	0.0047	0.0081	0.0034	0.0034	0.0035	0.0032	0.0058	0.0031	0.0030	0.0048	0.0046	0.0010	0	0.0029	0.0046	0.0004	0.0009	0.0034	0.0052	0.0071	0.0058	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.932	0.66722	D	0.000568	0.43250	D	0.000000	0.996597	0.43297	D	2.78	0.81115	M	.	.	.	.	.	.	0.762	0.76019	-0.6451	0.62926	T	0.175	0.51927	T	10	0.010714412	0.00237	T	0.024857	0.47845	T	0.292	0.61157	.	.	0.828905317767	0.82728	0.8286462745371947	0.82822	.	.	0.455148756504	0.32647	T	0.267225	0.63924	T	0.0604773	0.59672	T	0.31824	0.89017	D	0.0185732544201584	0.00572	T	0.892511	0.62902	D	0.13353944	0.31056	0.19491485	0.43139	0.13353944	0.31056	0.19491485	0.43139	-5.238	0.39326	T	0.7238937996200687	0.80517	0.223	0.45409	B	.	.	5.066532	0.84472	28.3	0.99949572079195992	0.99938	0.94025	0.59887	D	AEFDGBHCI	0.792576	0.72083	D	0.811249774334158	0.86804	9.004653	0.750582436068223	0.86199	8.813995	0.999999999995612	0.74766	0.490419	0.18000	1	0.588066	0.40923	0	0.667716	0.60424	0	0.613276	0.41899	0	.	.	5.47	5.47	0.80345	7.119000	0.76770	8.479000	0.77294	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	16.045	0.80517	527	0.73864	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007209	0.005319	0.005510	0.008876	0.000000	0.008772	0.006329	0.019380	0.05	790.43	35	chr12	121184747	.	G	A	790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=394;ExcessHet=0;FS=3.731;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=-0.213;SOR=0.307	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,824	9	0	1	0
chr12	121779653	121779653	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon5:c.G481A:p.A161T	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0025	0.014377	0.0102	0.0012	0.0074	0.0233	0.0156	0.0046	0.0167	0.0305	0.0092431	1429	154602	rs34719836	0.0054	0.0054	0.0046	0.0062	0.0286	0.0053	0.0052	0.0276	0.0273	0.0014	0.0061	0.0345	0.0180	0.0144	0.0132	0.0018	0.0090	0.0286	0.0054	0.0054	0.0044	0.0065	0.0296	0.0051	0.0050	0.0257	0.0242	0.0011	0	0.0073	0.0265	0.0199	0.0151	0.0272	0.0021	0.0118	0.0296	0.267	0.16198	T	0.117	0.36365	T	0.041	0.21357	B	0.009	0.14300	B	0.000064	0.52346	D	0.130199	0.733097	0.81001	D	0.105	0.08473	N	-0.43	0.69657	T	-0.58	0.17417	N	0.031	0.14622	-0.9351	0.43379	T	0.065	0.27017	T	10	0.0039672554	0.00076	T	.	.	.	0.128	0.35103	.	.	.	.	0.5111428600780548	0.51036	0.251119777169	0.27690	0.389992594719	0.23669	T	0.117886	0.59509	T	-0.540859	0.00331	T	-0.52737	0.19550	T	0.0136014360657771	0.00252	T	0.60024	0.23960	T	0.03787948	0.04942	0.0666522	0.13684	0.03787948	0.04941	0.0666522	0.13683	-3.98	0.23503	T	.	.	0.166	0.36495	B	.;.;.	.;.;.	1.789484	0.22746	15.75	0.98776299459780836	0.46049	0.24544	0.22426	N	AEFDGBCI	0.057339	0.10672	N	-0.493553668647655	0.22291	1.189256	-0.335312879505817	0.26967	1.493189	0.99999977544347	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.02	4.07	0.46726	0.609000	0.23935	0.637000	0.20283	-0.171000	0.11205	0.221000	0.24547	0.146000	0.23136	0.892000	0.42986	0.0:0.7962:0.0:0.2038	8.108	0.30059	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026687	0.035354	0.042120	0.014620	0.000000	0.025862	0.015244	0.003788	0.05	671.43	33	chr12	121779653	.	C	T	671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.072;DP=374;ExcessHet=0;FS=3.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.48;SOR=0.346	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,959	9	0	1	0
chr12	121823507	121823507	G	A	exonic	SETD1B	.	nonsynonymous SNV	SETD1B:NM_001353345:exon12:c.G4928A:p.R1643H	.	.	.	.	.	.	.	.	.	.	.	2685690	Inborn_genetic_diseases|Intellectual_developmental_disorder_with_seizures_and_language_delay	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033559,MedGen:C5436574,OMIM:619000	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.568	0.063105743994	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376856381	1.144e-05	1.094e-05	7.056e-06	1.595e-05	1.483e-05	6.77e-06	5.48e-06	8.78e-06	7.1e-06	0	0	0	0	0	0	1.483e-05	0	0	4.601e-05	4.597e-05	2.569e-05	6.73e-05	0.0002	2.11e-05	1.527e-05	2.847e-05	1.858e-05	2.414e-05	0	0	0	0.0002	0	0	7.35e-05	0	0	0.001	0.78490	D	0.107	0.37730	T	.	.	.	.	.	.	0.001046	0.40475	N	0.241213	0.999697	0.48338	D	2.33	0.66821	M	-3.69	0.95317	D	-2.72	0.57920	D	0.218	0.26475	0.767	0.94008	D	0.858	0.95261	D	10	0.2843191	0.46014	T	0.063106	0.68863	D	0.568	0.82403	.	.	0.928248603526	0.92751	0.3982893428195196	0.39743	1.60401244606	0.88746	0.651816308498	0.60243	T	0.009476	0.19191	T	0.0163094	0.53883	T	-0.0290767	0.68430	D	0.424658715724945	0.29863	T	0.79912	0.46506	T	0.07487818	0.16833	0.06542833	0.13260	0.07487818	0.16832	0.06542833	0.13259	-6.097	0.47420	T	.	.	0.303	0.53214	B	.;.;.;.	.;.;.;.	4.114324	0.61441	24.3	0.98399066530355084	0.41042	0.93452	0.58255	D	AEFBCI	0.571751	0.57561	D	0.47580621708261	0.65682	4.853123	0.442579181663103	0.64242	4.67491	0.999934789558074	0.46732	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.86	4.86	0.62624	5.442000	0.66324	11.327000	0.92535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.713000	0.34548	0.0829:0.0:0.9171:0.0	11.487	0.49609	619	0.66147	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	511.43	33	chr12	121823507	.	G	A	511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.323;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=2.35;SOR=0.746	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1190	9	0	1	0
chr12	122186194	122186194	C	T	exonic	LRRC43	.	nonsynonymous SNV	LRRC43:NM_001098519:exon3:c.C416T:p.T139I	.	413	1097	12	0	0	12	0.00543971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0011	0.00159744	0.0027	0.0006	0.0109	0	0	0.0032	0.0102	0.0017	0.0011061	171	154602	rs182225221	0.0009	0.0009	0.0008	0.0010	0.0152	0.0009	0.0008	0.0126	0.0117	0.0010	0.0025	0.0016	0	0.0002	0.0152	0.0007	0.0022	0.0010	0.0013	0.0013	0.0012	0.0014	0.0039	0.0011	0.0011	0.0031	0.0028	0.0002	0	0.0039	0.0026	0	0.0002	0.0102	0.0014	0.0057	0.0010	0.028	0.46129	D	0.019	0.59159	D	0.911	0.50336	P	0.461	0.46460	P	.	.	.	.	1	0.22332	N	1.65	0.42232	L	1.85	0.24472	T	-3.81	0.71882	D	0.198	0.21839	-1.0177	0.24463	T	0.035	0.14987	T	9	0.0064255893	0.00146	T	.	.	.	0.070	0.20419	.	.	0.0716867268079	0.06686	0.3593035167118251	0.35844	0.563251462079	0.52768	0.332543611526	0.15319	T	0.057147	0.30484	T	-0.557639	0.00262	T	-0.580571	0.14493	T	0.0562179745177423	0.06560	T	0.673733	0.28234	T	0.110311665	0.26074	0.22233997	0.47075	0.110311665	0.26074	0.22233997	0.47074	-6.21	0.48004	T	.	.	0.224	0.45581	B	.	.	2.325030	0.29777	18.23	0.99728489606297277	0.82619	0.09046	0.14879	N	AEFDBI	0.070225	0.13932	N	-0.488181304004024	0.22467	1.199895	-0.567198074296388	0.20351	1.096048	0.180935279603134	0.17870	0.554377	0.28877	0	0.59043	0.45803	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	5.11	-1.91	0.07225	0.134000	0.15755	0.116000	0.14850	-0.273000	0.06669	0.021000	0.19753	0.384000	0.24630	0.807000	0.38039	0.1987:0.6328:0.1685:0.0	10.127	0.41828	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.005051	0.021739	0.026316	0.000000	0.008772	0.003049	0.003788	0.05	1034.43	87	chr12	122186194	.	C	T	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=405;ExcessHet=0;FS=0.853;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-2.219;SOR=0.566	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	9	0	1	0
chr12	122334026	122334026	C	A	splicing	CLIP1	NM_198240:exon12:c.2572+1G>T;NM_002956:exon13:c.2677+1G>T;NM_001247997:exon14:c.2710+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416256	0.90820	D	0.360147	0.90706	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.584461	0.92331	32	0.9949231704001853	0.67516	0.93315	0.57888	D	AEFDGBCIJ	.	.	.	1.07073905631347	0.97553	16.32986	0.914893759174251	0.96190	14.40326	0.999999999999993	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.117559	0.03655	0	0.984395	0.91592	5.56	5.56	0.83678	5.135000	0.64617	7.575000	0.60810	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.520	0.95173	653	0.62661	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	718.43	35	chr12	122334026	.	C	A	718.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.236;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=0.798;SOR=0.656	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1130	9	0	1	0
chr12	122579974	122579974	A	G	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon32:c.A2911G:p.K971E	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.0108903088507	0.0002	.	0.0002	0.0001	0.0011	0	0	0.0002	0	0.0001	0.0001682	26	154602	rs200477285	0.0002	0.0002	0.0002	0.0002	0.0104	0.0001	0.0001	0.0083	0.0076	6.023e-05	0.0004	0.0002	0	0	0.0104	0.0001	0.0004	3.494e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.692e-05	0.0001	9.897e-05	2.405e-05	0	0.0002	0	0	0	0.0170	0.0002	0.0009	0	0.234	0.18061	T	0.037	0.51737	D	0.297	0.32486	B	0.129	0.32841	B	0.000043	0.53742	D	0.160344	0.857962	0.81001	D	2.445	0.70938	M	2.11	0.19860	T	-1.83	0.42957	N	0.545	0.57177	-1.0994	0.04164	T	0.056	0.23565	T	10	0.12717187	0.24183	T	0.01089	0.27936	T	0.122	0.33800	.	.	0.454426139905	0.45068	0.5104320956763001	0.50965	0.0628820753359	0.07001	0.466210365295	0.34162	T	0.051128	0.28791	T	-0.281006	0.10561	T	-0.313462	0.43286	T	0.0685018938221835	0.08440	T	0.792121	0.43364	T	0.1981799	0.41711	0.22878513	0.47931	0.1981799	0.41711	0.22878513	0.47930	-3.143	0.11797	T	.	.	0.108	0.20313	B	.	.	3.505322	0.49059	22.7	0.9963915394630023	0.76571	0.98722	0.86019	D	AEFDBI	0.538939	0.55612	D	0.156499392512484	0.49119	3.115997	0.308690926340086	0.56050	3.767888	0.99979190067334	0.43153	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	6.784000	0.74858	6.893000	0.56847	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	14.563	0.67748	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.005435	0.014620	0.000000	0.008621	0.000000	0.000000	0.05	475.43	33	chr12	122579974	.	A	G	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.864;DP=341;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-1.072;SOR=0.839	GT:AD:DP:GQ:PL	0/0:32,0:32:93:0,93,919	9	0	1	0
chr12	122716083	122716083	G	A	exonic	HCAR3	.	stopgain	HCAR3:NM_006018:exon1:c.C655T:p.Q219X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	0	0	0	1.518e-05	0	6.083e-05	3.84e-05	1	26028	rs765355631	4.793e-06	4.788e-06	1.362e-06	8.259e-06	0.0005	1.99e-06	1.28e-06	0.0001	7.562e-05	0	0	0	0	0	0.0005	3.601e-06	0	0	1.98e-05	1.97e-05	1.29e-05	2.702e-05	0.0002	5.26e-06	2.46e-06	8.04e-06	3.01e-06	4.854e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999901	0.81001	N	.	.	.	.	.	.	.	.	.	0.839	0.83473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298245	0.82827	D	0.291262	0.87750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.826003	0.96899	36	0.98730254882326529	0.45348	0.17895	0.20033	N	AEFBI	0.249612	0.36981	N	0.210438103881618	0.51704	3.349634	-0.0522681345979552	0.37392	2.188735	0.00329375076874083	0.10040	0.446893	0.09132	0	0.541556	0.11502	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.41	2.5	0.29355	1.366000	0.33797	6.723000	0.56435	0.320000	0.19365	0.433000	0.26432	1.000000	0.68203	0.908000	0.44358	0.0:0.0:0.5831:0.4169	8.510	0.32372	465	0.78421	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3365.14	89	chr12	122716083	.	G	A	3365.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.51;DP=691;ExcessHet=0.2348;FS=20.757;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=49.35;MQRankSum=1.45;QD=17.08;ReadPosRankSum=-0.671;SOR=0.548	GT:AD:DP:GQ:PL	0/1:42,60:102:99:1732,0,1100	8	0	2	0
chr12	122867358	122867358	G	A	exonic	VPS37B	.	nonsynonymous SNV	VPS37B:NM_024667:exon4:c.C616T:p.R206C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.116897473357	.	.	9.859e-06	0	0	0	0	1.839e-05	0	0	6.5e-06	1	154602	rs765772811	1.061e-05	1.437e-05	1.408e-05	7.109e-06	1.289e-05	6.37e-06	5.05e-06	7.48e-06	5.85e-06	0	0	0	0	0	0	1.289e-05	0	1.167e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.051	0.47828	T	1.0	0.90584	D	0.877	0.62241	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	0.41	0.57100	T	-2.92	0.63782	D	0.45	0.48780	-0.5429	0.67054	T	0.289	0.66094	T	10	0.43380514	0.57662	T	0.116897	0.79652	D	0.309	0.63055	0.248	0.18447	0.20808081866	0.20439	0.48077648969335846	0.47997	1.06096761696	0.76471	0.773575484753	0.77959	T	0.122664	0.44650	T	0.131701	0.67526	D	-0.048597	0.67118	D	0.949714839458466	0.63174	D	0.921608	0.71541	D	0.20123264	0.42127	0.12567632	0.30277	0.20123264	0.42127	0.12567632	0.30277	-4.299	0.28163	T	.	.	0.332	0.55390	B	.;.	.;.	4.728777	0.76146	26.5	0.99785931874657285	0.87219	0.94455	0.61221	D	AEFDBHCI	0.725793	0.67466	D	0.277813454145007	0.55024	3.666997	0.207482130056614	0.50264	3.220111	0.999999340409688	0.74766	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.636168	0.56350	0	.	.	5.44	4.54	0.55220	2.917000	0.48518	9.501000	0.80908	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.414000	0.27095	0.0:0.0:0.7115:0.2885	13.289	0.59697	313	0.87327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	731.43	39	chr12	122867358	.	G	A	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=395;ExcessHet=0;FS=3.402;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.636;SOR=0.368	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	9	0	1	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.1	1152.14	37	chr12	123313662	.	T	C	1152.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.44;DP=393;ExcessHet=0.2348;FS=2.561;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.581;SOR=0.468	GT:AD:DP:GQ:PL	0/1:33,25:58:99:557,0,828	8	0	2	0
chr12	123345377	123345377	G	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon4:c.C431A:p.T144N,SBNO1:NM_018183:exon4:c.C428A:p.T143N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00339287899614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.585	0.08808	T	0.272	0.31812	B	0.118	0.32088	B	0.004903	0.33273	N	0.328826	0.647682	0.30561	N	1.39	0.34934	L	1.4	0.33630	T	-0.35	0.12847	N	0.518	0.54845	-1.0352	0.18794	T	0.059	0.24834	T	10	0.114836305	0.21617	T	0.003393	0.07603	T	0.025	0.05312	0.195	0.10705	0.0934897674506	0.08844	0.21345852562402548	0.21261	0.111518708374	0.12590	0.461476445198	0.33512	T	0.011702	0.10405	T	-0.156419	0.27311	T	-0.462461	0.26331	T	0.53838837146759	0.34044	D	0.915608	0.69895	D	0.11028021	0.26068	0.10097969	0.24159	0.11028021	0.26068	0.10097969	0.24159	-4.013	0.24370	T	.	.	0.083	0.16451	B	.;.;.	.;.;.	3.141597	0.42488	21.5	0.97165131835613439	0.32651	0.98200	0.80475	D	AEFGBI	0.285951	0.39845	N	-0.276288406955663	0.30066	1.673085	-0.129456538326334	0.34208	1.96519	0.996501975868754	0.34791	0.719381	0.83141	0	0.702456	0.74545	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.74	4.84	0.62125	4.479000	0.59970	7.301000	0.58090	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.1414:0.8586:0.0	15.052	0.71546	434	0.80536	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1277.43	36	chr12	123345377	.	G	T	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.295;DP=443;ExcessHet=0;FS=2.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=0.599;SOR=0.93	GT:AD:DP:GQ:PL	0/1:76,56:132:99:1289,0,1860	9	0	1	0
chr12	123744756	123744756	G	A	exonic	ATP6V0A2	.	nonsynonymous SNV	ATP6V0A2:NM_012463:exon12:c.G1486A:p.A496T	Cutis laxa, autosomal recessive, type IIA, Autosomal recessive;Wrinkly skin syndrome, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	177270	not_provided|not_specified|ALG9_congenital_disorder_of_glycosylation|Inborn_genetic_diseases|ATP6V0A2-related_disorder|Cutis_laxa_with_osteodystrophy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012117,MedGen:C2931006,OMIM:608776,Orphanet:79328|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0018163,MedGen:C0268355,OMIM:219200,Orphanet:357058	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.079	0.041143854896	.	0.00159744	0.0013	0	0.0003	0.0001	0	0.0008	0.0033	0.0062	0.0011966	185	154602	rs143142641	0.0008	0.0008	0.0006	0.0010	0.0066	0.0007	0.0007	0.0062	0.0060	8.961e-05	0.0006	0.0014	0	0	0.0017	0.0004	0.0007	0.0066	0.0005	0.0005	0.0003	0.0007	0.0062	0.0004	0.0004	0.0045	0.0039	2.407e-05	0	0.0004	0.0014	0.0004	0	0	0.0005	0.0005	0.0062	0.518	0.07307	T	0.572	0.08746	T	0.002	0.09854	B	0.001	0.04355	B	0.037805	0.01839	N	2.173870	1	0.08975	N	0	0.06538	N	-1.85	0.84267	D	-0.14	0.09135	N	0.069	0.04188	-0.8099	0.54556	T	0.283	0.65458	T	10	0.013159156	0.00280	T	0.041144	0.59768	D	0.079	0.23065	.	.	0.225902525712	0.22197	0.45341008408235595	0.45259	0.155586269279	0.17559	0.221252664924	0.01383	T	0.14563	0.48284	T	-0.557043	0.00264	T	-0.571011	0.15357	T	0.0050169609138208	0.00054	T	0.441356	0.12220	T	0.016524712	0.00203	0.033193264	0.02174	0.013304375	0.00055	0.031012543	0.01631	-3.695	0.19244	T	.	.	0.065	0.01909	B	.	.	-0.149271	0.03360	0.596	0.70530275826382138	0.09326	0.13779	0.18047	N	AEFDBCI	0.045268	0.07385	N	-1.54998895494316	0.01535	0.06702592	-1.58266884174898	0.01761	0.08012034	0.0318883539184954	0.14026	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	-4.18	0.03584	-0.148000	0.10203	-1.039000	0.06521	-2.148000	0.00374	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3262:0.1989:0.2726:0.2024	0.471	0.00496	345	0.85689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.000000	0.050000	0.000000	0.003049	0.022727	0.05	2689.43	42	chr12	123744756	.	G	A	2689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=520;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-1.217;SOR=0.677	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr12	123767674	123767674	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_001372106:exon2:c.G283A:p.V95M,DNAH10:NM_207437:exon2:c.G100A:p.V34M	.	426	1092	4	0	0	4	0.00182815	.	.	.	2283709	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.003	0.00338348418667	.	0.000199681	4.164e-05	0	0	0.0003	0	1.837e-05	0	7.769e-05	3.88e-05	6	154602	rs190206140	2.056e-05	2.189e-05	1.227e-05	2.894e-05	0.0002	1.458e-05	1.266e-05	8.21e-05	5.792e-05	0	0	0	0.0002	0	0.0002	1.17e-05	6.634e-05	5.848e-05	2.626e-05	3.281e-05	0	5.37e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.378e-05	2.405e-05	0	0	0	0.0006	0	0	0	0	0	.	.	.	.	.	.	0.007	0.14184	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.205	0.09354	N	.	.	.	.	.	.	.	.	-1.0115	0.26447	T	0.029	0.12629	T	9	0.027405828	0.00887	T	0.003383	0.07572	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.20868968524455417	0.20784	0.145038065069	0.16392	0.277152776718	0.07099	T	1.24E-4	0.00015	T	-0.650276	0.00072	T	-0.826915	0.01318	T	0.0191352496973482	0.00621	T	0.39556	0.10990	T	0.022208901	0.00869	0.036629736	0.03149	0.022208901	0.00869	0.036629736	0.03148	-4.342	0.28761	T	.	.	0.074	0.05274	B	.;.	.;.	-1.272380	0.00462	0.010	0.87783979040504012	0.17479	0.01524	0.05024	N	AEFDGBHCI	0.023656	0.01350	N	-1.4570851632058	0.02161	0.09514816	-1.54157732996486	0.02034	0.09299481	0.999822026258001	0.43622	0.495158	0.18159	0	0.616935	0.53198	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.57	-4.2	0.03562	-2.018000	0.01532	-9.264000	0.00844	-1.788000	0.00641	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6375:0.1579:0.2046:0.0	6.239	0.19991	332	0.86382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	802.43	71	chr12	123767674	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.14;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=-0.846;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1259	9	0	1	0
chr12	123841542	123841542	G	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon29:c.G5003A:p.S1668N,DNAH10:NM_001372106:exon30:c.G5357A:p.S1786N	.	.	.	.	.	.	.	.	.	.	.	2283062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00709474541311	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1471740977	3.422e-06	3.42e-06	1.362e-06	5.503e-06	0.0005	1e-06	7.3e-07	0.0001	7.555e-05	0	0	0	0	0	0.0005	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.27266	B	0.051	0.25434	B	0.886623	0.07269	U	1.068500	0.999691	0.48338	D	2.235	0.63160	M	.	.	.	.	.	.	.	.	-1.0796	0.07426	T	0.075	0.30210	T	10	0.22833478	0.39736	T	0.007095	0.18786	T	0.065	0.18881	0.401	0.43081	0.283761946502	0.27984	0.1572440061779064	0.15645	0.14722284871	0.16604	0.532261013985	0.43353	T	0.002151	0.01556	T	-0.246639	0.14515	T	-0.592056	0.13489	T	0.255440651503049	0.23115	T	0.79872	0.44372	T	0.17726563	0.38684	0.13918619	0.33218	0.17726563	0.38684	0.13918619	0.33218	-6.442	0.49836	T	.	.	0.107	0.20157	B	.;.	.;.	2.559156	0.33143	19.25	0.97895400447742897	0.36704	0.94937	0.62850	D	AEFDBI	0.623097	0.60717	D	-0.107741256699715	0.37056	2.150408	0.00999356994228071	0.40176	2.393689	0.123389120594213	0.16935	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.42	3.53	0.39533	3.850000	0.55627	3.453000	0.38460	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.275:0.725:0.0	15.697	0.77264	360	0.84920	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	510.43	37	chr12	123841542	.	G	A	510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.237;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.47;ReadPosRankSum=-1.143;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,18:31:99:522,0,384	9	0	1	0
chr12	123864689	123864689	G	C	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon39:c.G6649C:p.E2217Q,DNAH10:NM_001372106:exon40:c.G7003C:p.E2335Q	.	432	1062	28	0	0	28	0.0130112	.	.	.	713419	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.738	.	0.0015	0.00698882	0.0036	0.0003	0.0010	0	0.0009	0.0017	0.0034	0.0182	0.0033505	518	154602	rs200400425	0.0025	0.0025	0.0021	0.0030	0.0176	0.0025	0.0024	0.0168	0.0165	0.0001	0.0009	0.0004	2.519e-05	0.0011	0.0081	0.0017	0.0027	0.0176	0.0020	0.0020	0.0017	0.0023	0.0199	0.0018	0.0018	0.0167	0.0155	0.0003	0	0.0018	0.0006	0.0002	0.0008	0.0068	0.0022	0.0033	0.0199	.	.	.	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	1	0.81001	D	3.205	0.89189	M	.	.	.	.	.	.	.	.	1.018	0.97503	D	0.904	0.96832	D	10	0.013560176	0.00287	T	.	.	.	0.738	0.90895	.	.	0.708094432405	0.70554	0.6582395555723624	0.65760	0.634720271149	0.57315	0.806533932686	0.82961	D	0.189043	0.54314	T	-0.0359428	0.46550	T	0.18922	0.82525	D	0.063691609664845	0.07736	T	0.950005	0.80823	D	0.49002495	0.66504	0.3608338	0.61518	0.49002495	0.66505	0.3608338	0.61518	-12.565	0.87494	D	.	.	0.849	0.79706	P	.;.	.;.	4.943399	0.81600	27.6	0.99832676779395413	0.91456	0.99123	0.91564	D	AEFBI	0.939597	0.94040	D	0.950550326054816	0.94008	12.43397	0.87195579580291	0.94230	12.60199	0.999999979035594	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.46	5.46	0.80021	10.003000	0.99689	11.748000	0.95342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.0:1.0:0.0	19.315	0.94195	624	0.65661	ATPase, dynein-related, AAA domain|AAA+ ATPase domain;ATPase, dynein-related, AAA domain|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.000000	0.004076	0.005848	0.000000	0.025862	0.006098	0.007576	0.05	1374.43	130	chr12	123864689	.	G	C	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.869;DP=511;ExcessHet=0;FS=4.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.316;SOR=0.418	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1530	9	0	1	0
chr12	123881721	123881721	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon50:c.C8377T:p.R2793C,DNAH10:NM_001372106:exon51:c.C8731T:p.R2911C	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.120645806873	.	.	9.048e-05	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs759567865	2.434e-05	2.736e-05	1.695e-05	3.193e-05	0.0002	1.752e-05	1.546e-05	7.427e-05	5.018e-05	6.361e-05	0.0002	0	2.804e-05	6.089e-05	0	1.855e-05	0	2.539e-05	3.944e-05	3.941e-05	2.57e-05	5.384e-05	7.244e-05	1.716e-05	1.13e-05	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000010	0.62929	U	0.000000	1	0.81001	D	3.55	0.93268	H	.	.	.	.	.	.	.	.	-0.2511	0.76329	T	0.324	0.69255	T	10	0.7679258	0.76851	D	0.120646	0.80123	D	0.393	0.70844	0.55	0.66576	0.402614778071	0.39880	0.6213259258755341	0.62065	0.747903240983	0.63614	0.796496272087	0.81429	T	0.09325	0.39172	T	-0.0322712	0.47085	T	0.0120605	0.71116	D	0.989635169506073	0.79860	D	0.984901	0.94786	D	0.6522709	0.75485	0.4777092	0.69742	0.6522709	0.75487	0.4777092	0.69743	-9.496	0.70834	D	.	.	0.243	0.47697	B	.;.	.;.	3.736468	0.53476	23.4	0.99901502148813481	0.97350	0.88057	0.47821	D	AEFDBI	0.482848	0.52354	N	0.464161687702577	0.65011	4.769086	0.312596090831214	0.56280	3.791035	0.00282184697857844	0.09733	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	4.79	0.60909	2.474000	0.44812	2.657000	0.33854	0.599000	0.40250	0.979000	0.35152	0.992000	0.31684	0.247000	0.23184	0.4034:0.5966:0.0:0.0	13.460	0.60678	667	0.61242	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001193	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.009009	0.05	1435.43	40	chr12	123881721	.	C	T	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.683;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.8;SOR=0.722	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.05	849.43	35	chr12	123916480	.	C	A	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=420;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.01;ReadPosRankSum=-1.123;SOR=0.543	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr12	123933349	123933349	A	G	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon76:c.A12961G:p.S4321G,DNAH10:NM_001372106:exon77:c.A13315G:p.S4439G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00411626074775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.108642	0.19518	N	0.557794	1	0.08975	N	1.32	0.33002	L	.	.	.	.	.	.	.	.	-0.9664	0.37934	T	0.015	0.05801	T	10	0.11146429	0.20873	T	0.004116	0.09838	T	0.037	0.09474	0.358	0.36060	0.0401082797425	0.02173	0.2119901339902374	0.21115	0.132148160993	0.14894	0.334663689137	0.15637	T	0.00487	0.04291	T	-0.369421	0.03624	T	-0.768424	0.02820	T	0.266849130392075	0.23612	T	0.784022	0.42156	T	0.14749323	0.33716	0.11949873	0.28843	0.14749323	0.33716	0.11949873	0.28842	-4.82	0.34823	T	.	.	0.081	0.08224	B	.;.	.;.	0.481313	0.08509	5.269	0.59061093231786788	0.06136	0.07398	0.13417	N	AEFDBI	0.123140	0.23860	N	-0.949091606872654	0.09713	0.4609085	-0.941620939011787	0.11118	0.5644556	0.0236133115351312	0.13520	0.549168	0.22868	0	0.610034	0.51514	0	0.59043	0.30614	0	0.616125	0.45549	0	.	.	5.18	-1.26	0.08892	0.795000	0.26632	0.035000	0.13787	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.741000	0.35472	0.4906:0.0:0.5094:0.0	11.324	0.48675	754	0.51307	Dynein heavy chain domain;Dynein heavy chain domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1186.43	39	chr12	123933349	.	A	G	1186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.386;DP=419;ExcessHet=0;FS=8.679;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=-0.442;SOR=0.556	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1119:.	9	0	1	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.1	1674.14	33	chr12	124012566	.	A	G	1674.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.404;DP=577;ExcessHet=0.2348;FS=2.356;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.83;ReadPosRankSum=0.95;SOR=0.865	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	8	0	2	0
chr12	124356683	124356683	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon24:c.C3170T:p.P1057L,NCOR2:NM_001206654:exon24:c.C3170T:p.P1057L,NCOR2:NM_006312:exon25:c.C3200T:p.P1067L	.	.	.	.	.	.	.	.	.	.	.	2472301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.109909234296	.	.	1.117e-05	0	0	0	0	0	0.0017	0	6.5e-06	1	154602	rs775451734	6.815e-06	1.163e-05	5.946e-06	7.717e-06	4.673e-05	3.21e-06	2.32e-06	1.24e-05	6.44e-06	3.862e-05	0	0	0	0	0	4.77e-06	0	4.673e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0.0002	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000015	0.62929	D	0.069639	0.999965	0.58761	D	.	.	.	2.1	0.35405	T	-7.84	0.96426	D	0.683	0.76853	-0.6265	0.63718	T	0.225	0.58919	T	10	0.71883106	0.73525	D	0.109909	0.78707	D	0.277	0.59375	.	.	0.534595378337	0.53109	0.49651581811250733	0.49572	0.714005411616	0.61858	0.775994300842	0.78324	T	0.79836	0.94831	D	-0.086024	0.38730	T	-0.179816	0.56541	T	0.906051576137543	0.55997	D	0.936106	0.77585	D	0.703652	0.78257	0.6173686	0.77721	0.703652	0.78259	0.6173686	0.77722	-3.962	0.23233	T	.	.	0.129	0.38099	B	.;.;.;.;.;.	.;.;.;.;.;.	4.909844	0.80777	27.4	0.99816963620599186	0.90061	0.96925	0.71691	D	AEFBI	0.623205	0.60724	D	0.730023519555161	0.81600	7.560526	0.68676017721585	0.81371	7.51142	0.999997418797017	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	4.006000	0.56798	11.470000	0.92855	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	0.0:0.0:1.0:0.0	16.205	0.81939	489	0.76795	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1178.43	33	chr12	124356683	.	G	A	1178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=397;ExcessHet=0;FS=1.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.802;SOR=0.529	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	9	0	1	0
chr12	124385773	124385773	T	C	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon19:c.A1988G:p.E663G,NCOR2:NM_001206654:exon19:c.A1988G:p.E663G,NCOR2:NM_006312:exon19:c.A1991G:p.E664G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0179909851649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.37326	T	0.373	0.35455	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	U	0.000000	0.999746	0.48716	D	2.115	0.58683	M	1.53	0.30401	T	-4.22	0.82700	D	0.544	0.62611	-1.0777	0.07801	T	0.045	0.19316	T	10	0.19596839	0.35470	T	0.017991	0.39899	T	0.082	0.23913	0.354	0.35408	0.450326921165	0.44653	0.3953967645725706	0.39454	1.12430380814	0.78398	0.627811789513	0.56835	T	0.745444	0.92983	D	-0.145007	0.29095	T	-0.446069	0.28131	T	0.760746419429779	0.43894	D	0.647735	0.41282	T	0.29197964	0.52176	0.2603496	0.51797	0.29197964	0.52176	0.2603496	0.51796	-13.534	0.91443	D	.	.	0.180	0.46688	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.331398	0.45867	22.2	0.98202932681238364	0.39140	0.61979	0.31644	D	ALL	0.450764	0.50503	N	-0.392340846563718	0.25740	1.399615	-0.270981737637846	0.29059	1.625072	0.999995403686395	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.570548	0.19454	0	0.735409	0.98432	0	.	.	4.56	2.11	0.26299	4.202000	0.58243	2.130000	0.30774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.1657:0.161:0.6733	4.767	0.12509	493	0.76500	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1894.43	35	chr12	124385773	.	T	C	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.065;DP=456;ExcessHet=0;FS=6.47;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-1.972;SOR=1.252	GT:AD:DP:GQ:PL	0/1:60,78:138:99:1906,0,1395	9	0	1	0
chr12	124430757	124430757	G	A	exonic	NCOR2	.	nonsynonymous SNV	NCOR2:NM_001077261:exon11:c.C913T:p.L305F,NCOR2:NM_001206654:exon11:c.C913T:p.L305F,NCOR2:NM_006312:exon11:c.C913T:p.L305F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0244630492453	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.032	0.57587	D	0.998	0.73220	D	0.996	0.84481	D	0.002978	0.35639	N	0.187977	0.999996	0.81001	D	1.975	0.53506	M	0.62	0.53302	T	-3.42	0.72820	D	0.682	0.70263	-0.6498	0.62723	T	0.234	0.60026	T	10	0.60138535	0.66932	D	0.024463	0.47448	T	0.364	0.68407	0.364	0.37036	0.655744367491	0.65287	0.9560031147876591	0.95585	1.04679910713	0.75980	0.89358997345	0.95700	D	0.850955	0.96608	D	0.11494	0.65860	D	-0.0726728	0.65435	T	0.904618203639984	0.55813	D	0.991087	0.97264	D	0.2484968	0.47836	0.31409073	0.57402	0.2484968	0.47836	0.31409073	0.57401	-9.934	0.73516	D	.	.	0.988	0.92981	P	.;.;.;.;.;.	.;.;.;.;.;.	4.735021	0.76299	26.5	0.98097851791454838	0.38245	0.98799	0.87003	D	AEFBI	0.907928	0.86258	D	0.660444076156538	0.77046	6.599967	0.601750265313068	0.75068	6.245378	0.999999731709585	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.75	3.75	0.42236	8.178000	0.89637	8.176000	0.76768	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0952:0.0:0.9048:0.0	9.914	0.40594	474	0.77851	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	191.14	45	chr12	124430757	.	G	A	191.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.9;DP=766;ExcessHet=0.2348;FS=262.978;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.621;SOR=8.885	GT:AD:DP:GQ:PL	0/0:71,0:71:78:0,78,1276	8	0	2	0
chr12	125519578	125519578	A	G	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001366854:exon4:c.A1246G:p.I416V,TMEM132B:NM_052907:exon4:c.A1231G:p.I411V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00468595685306	8.2e-05	0.000998403	0.0009	0	8.639e-05	0	0	4.495e-05	0.0011	0.0065	0.0007697	119	154602	rs367761714	0.0004	0.0004	0.0002	0.0005	0.0059	0.0003	0.0003	0.0055	0.0053	2.987e-05	0	0	0	0	0	9.892e-06	0.0004	0.0059	0.0001	0.0001	5.143e-05	0.0002	0.0035	8.168e-05	6.724e-05	0.0022	0.0018	0	0	0	0	0	0	0	2.941e-05	0	0.0035	0.016	0.51853	D	0.111	0.37173	T	0.012	0.16265	B	0.018	0.18489	B	0.003176	0.35330	U	0.000000	0.994557	0.23493	N	1.965	0.53209	M	2.53	0.14038	T	-0.73	0.20576	N	0.332	0.37301	-1.1007	0.04008	T	0.036	0.15378	T	10	0.010567397	0.00235	T	0.004686	0.11628	T	0.056	0.15993	.	.	0.0954503805726	0.09146	0.4081641247310896	0.40732	0.22983979059	0.25536	0.613262414932	0.54777	T	0.029876	0.21306	T	-0.576153	0.00203	T	-0.597212	0.13047	T	0.054463989431312	0.06267	T	0.719828	0.33277	T	0.076252215	0.17234	0.08053638	0.18226	0.076252215	0.17234	0.08053638	0.18225	-5.458	0.41474	T	.	.	0.138	0.30238	B	.	.	2.376663	0.30503	18.46	0.99399752398532892	0.62748	0.88091	0.47869	D	AEFGBI	0.424861	0.48986	N	-0.145913976442696	0.35409	2.033448	-0.013239667867455	0.39115	2.314442	0.703824466382289	0.22734	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.12	3.95	0.44952	3.917000	0.56136	5.822000	0.50091	0.736000	0.85976	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.9263:0.0:0.0737:0.0	11.132	0.47572	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	458.43	38	chr12	125519578	.	A	G	458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=387;ExcessHet=0;FS=3.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.74;SOR=1.668	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr12	125654210	125654210	C	A	exonic	TMEM132B	.	nonsynonymous SNV	TMEM132B:NM_001286219:exon5:c.C1273A:p.L425M,TMEM132B:NM_001366854:exon9:c.C2752A:p.L918M,TMEM132B:NM_052907:exon9:c.C2737A:p.L913M	.	433	1032	57	0	0	57	0.0268741	.	.	.	3547032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.165	.	0.0062	0.0115815	0.0115	0.0015	0.0079	0.0001	0.0006	0.0072	0.0111	0.0476	0.0106079	1640	154602	rs61940807	0.0094	0.0094	0.0083	0.0105	0.0426	0.0092	0.0092	0.0414	0.0410	0.0016	0.0070	0.0057	7.557e-05	0.0007	0.0161	0.0079	0.0092	0.0426	0.0064	0.0064	0.0060	0.0068	0.0422	0.0060	0.0059	0.0375	0.0357	0.0014	0.0033	0.0081	0.0043	0.0002	9.413e-05	0.0068	0.0081	0.0071	0.0422	0.011	0.55530	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000254	0.46924	D	0.000000	0.999782	0.49076	D	2.995	0.85803	M	1.72	0.26588	T	-1.69	0.40274	N	0.133	0.18920	-1.0491	0.14649	T	0.084	0.32900	T	10	0.0061185956	0.00138	T	.	.	.	0.165	0.42395	.	.	.	.	0.7177398300703923	0.71716	0.578337520646	0.53735	0.835967540741	0.87479	D	0.233202	0.59995	T	-0.408305	0.02040	T	-0.326422	0.41865	T	0.0753760093020155	0.09385	T	0.772923	0.48860	T	0.15482831	0.35023	0.1645731	0.38116	0.15482831	0.35023	0.1645731	0.38115	-8.98	0.67568	D	.	.	0.158	0.35034	B	.;.	.;.	1.996945	0.25370	16.74	0.99494354494424719	0.67630	0.35415	0.25296	N	AEFI	0.202736	0.32930	N	-0.00257369934828527	0.41739	2.502031	-0.172327550528987	0.32559	1.853576	1.20154442700449E-4	0.05269	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.43	-0.724	0.10613	0.058000	0.14178	-0.197000	0.10982	0.599000	0.40250	0.049000	0.21372	0.000000	0.08366	0.975000	0.56047	0.0:0.1871:0.0:0.8129	10.385	0.43319	936	0.14734	Transmembrane protein TMEM132, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.000000	0.008152	0.011696	0.000000	0.000000	0.003049	0.041667	0.05	1928.43	36	chr12	125654210	.	C	A	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.949;DP=472;ExcessHet=0;FS=4.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.56;SOR=0.404	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1342	9	0	1	0
chr12	128705439	128705439	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon9:c.G2471A:p.R824H	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00738254727242	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs367776856	2.431e-05	2.394e-05	2.68e-05	2.174e-05	5.602e-05	1.75e-05	1.544e-05	1.714e-05	1.469e-05	0	5.602e-05	0	0	0	0	2.502e-05	1.724e-05	5.048e-05	3.944e-05	3.94e-05	5.14e-05	2.691e-05	7.242e-05	1.716e-05	1.13e-05	1.92e-05	1.032e-05	7.242e-05	0	6.546e-05	0	0	0	0	2.94e-05	0	0	0.03	0.45393	D	0.084	0.41239	T	1.0	0.90584	D	0.991	0.79672	D	0.000018	0.62929	D	0.000000	0.997443	0.43893	D	2.965	0.85198	M	2.55	0.13795	T	-2.34	0.51811	N	0.43	0.46928	-1.0501	0.14369	T	0.101	0.37543	T	10	0.3798304	0.54110	T	0.007383	0.19576	T	0.118	0.32913	.	.	0.226560886239	0.22246	0.3593221764635229	0.35846	0.248680489468	0.27433	0.365058600903	0.20120	T	0.012984	0.11314	T	-0.232125	0.16369	T	-0.377559	0.36008	T	0.699554860591888	0.40698	D	0.894311	0.63332	D	0.18035516	0.39153	0.13868202	0.33113	0.18035516	0.39153	0.13868202	0.33113	-4.225	0.27112	T	.	.	0.147	0.32469	B	.	.	4.748763	0.76661	26.6	0.9994895738873103	0.99931	0.82876	0.42046	D	AEFBI	0.396132	0.47272	N	0.551449365628274	0.70172	5.462434	0.48650533606385	0.67094	5.038376	0.0052915203296192	0.10891	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	5.540000	0.66915	7.419000	0.58701	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.477000	0.28498	0.0:0.0:1.0:0.0	17.825	0.88573	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2566.43	144	chr12	128705439	.	G	A	2566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.153;DP=1186;ExcessHet=0;FS=1.41;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.513;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	0	1	0
chr12	128957587	128957587	G	A	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366888:exon7:c.G415A:p.G139R,GLT1D1:NM_144669:exon7:c.G583A:p.G195R,GLT1D1:NM_001366887:exon10:c.G697A:p.G233R,GLT1D1:NM_001366886:exon11:c.G823A:p.G275R,GLT1D1:NM_001366889:exon12:c.G871A:p.G291R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.892	0.138111969379	7.7e-05	.	1.652e-05	0	0	0.0001	0	1.502e-05	0	0	1.29e-05	2	154602	rs375323637	3.421e-06	3.42e-06	4.085e-06	2.751e-06	6.708e-05	1e-06	7.3e-07	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0	8.994e-07	1.656e-05	0	3.943e-05	3.94e-05	3.855e-05	4.036e-05	4.827e-05	1.716e-05	1.13e-05	8e-06	2.99e-06	4.827e-05	0	0	0.0003	0	0	0	1.47e-05	0.0010	0	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	4.195	0.97796	H	-2.3	0.87671	D	-6.98	0.93810	D	0.992	0.99822	0.900	0.95668	D	0.846	0.94867	D	10	0.9653275	0.96004	D	0.138112	0.82061	D	0.892	0.96910	0.833	0.94168	0.930611013341	0.92990	0.7599147936522032	0.75939	0.714303681493	0.61876	0.763496160507	0.76451	T	0.717003	0.91972	D	0.469156	0.93303	D	0.436133	0.93218	D	0.99868780374527	0.94856	D	0.970603	0.90384	D	0.7434129	0.80488	0.767715	0.86281	0.7434129	0.80490	0.767715	0.86282	-15.488	0.96891	D	.	.	0.899	0.85945	P	.;.;.	.;.;.	5.147357	0.86196	28.8	0.99891580844154326	0.96589	0.97239	0.73514	D	AEFDBI	0.933398	0.92525	D	0.760026163155256	0.83556	8.048497	0.620637642995023	0.76441	6.491464	0.999999953256421	0.74766	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.6	5.6	0.84997	8.712000	0.91099	11.377000	0.92619	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.0:1.0:0.0	18.378	0.90386	994	0.00715	Glycosyl transferase, family 1;.;Glycosyl transferase, family 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1220.43	35	chr12	128957587	.	G	A	1220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.141;DP=384;ExcessHet=0;FS=0.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.731;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1144	9	0	1	0
chr12	129074525	129074525	C	T	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.G2650A:p.D884N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0141969403625	.	.	2.471e-05	0	0.0002	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs775031413	1.437e-05	1.436e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	0.0001	7.816e-05	0	0.0002	0	0	0	0.0002	9.892e-06	0	0	3.946e-05	3.941e-05	5.142e-05	2.694e-05	0.0003	1.717e-05	1.13e-05	8.885e-05	5.391e-05	0	0	0.0003	0	0	0	0	2.94e-05	0	0	0.083	0.33091	T	0.023	0.61642	D	0.983	0.90584	D	0.496	0.76113	P	0.000099	0.51296	D	0.079595	0.999867	0.50061	D	2.72	0.79541	M	2.86	0.10482	T	-3.57	0.68999	D	0.076	0.05670	-0.9483	0.41263	T	0.100	0.37060	T	9	0.27295476	0.44841	T	0.014197	0.34156	T	0.157	0.40909	0.282	0.23801	0.523631425315	0.52008	0.3111099362888599	0.31023	0.510007423697	0.49133	0.356622368097	0.18893	T	0.149904	0.48913	T	-0.499548	0.00575	T	-0.700297	0.05809	T	0.909156918525696	0.56397	D	0.867913	0.70849	D	0.18062474	0.39193	0.15671214	0.36678	0.18062474	0.39193	0.15671214	0.36677	-5.603	0.53536	T	.	.	0.090	0.12797	B	.;.	.;.	3.577900	0.50425	22.9	0.99769957730378089	0.85834	0.91467	0.53593	D	AEFDBI	0.594645	0.58950	D	0.275863475802203	0.54928	3.657392	0.138567382037443	0.46540	2.898291	0.682695549677204	0.22498	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	4.2	0.48814	3.489000	0.53000	2.165000	0.31010	0.599000	0.40250	0.990000	0.36992	0.874000	0.27626	0.439000	0.27649	0.0:1.0:0.0:0.0	16.884	0.85939	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3167.43	34	chr12	129074525	.	C	T	3167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=525;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.643;SOR=0.783	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1365	9	0	1	0
chr12	129074683	129074683	G	A	exonic	TMEM132D	.	nonsynonymous SNV	TMEM132D:NM_133448:exon9:c.C2492T:p.S831L	.	424	1039	58	1	0	60	0.0280636	.	.	.	702224	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0065	0.00239617	0.0077	0.0013	0.0063	0	0.0074	0.0104	0.0132	0.0056	0.0074967	1159	154602	rs140762080	0.0084	0.0084	0.0083	0.0084	0.0534	0.0082	0.0082	0.0485	0.0466	0.0024	0.0068	0.0300	2.519e-05	0.0068	0.0534	0.0083	0.0102	0.0062	0.0069	0.0070	0.0070	0.0069	0.0090	0.0066	0.0065	0.0084	0.0082	0.0020	0	0.0075	0.0251	0.0002	0.0082	0.0578	0.0090	0.0128	0.0062	0.636	0.05452	T	0.465	0.12421	T	0.0	0.02946	B	0.0	0.01387	B	0.086311	0.02407	N	1.932640	1	0.08975	N	-1.21	0.00826	N	2.93	0.09822	T	-0.43	0.17834	N	0.048	0.01999	-1.0013	0.29545	T	0.007	0.02360	T	9	0.005143881	0.00112	T	.	.	.	0.025	0.05312	.	.	0.043077524339	0.03247	0.15545238082319554	0.15466	0.210139789538	0.23496	0.204422041774	0.00596	T	0.004765	0.04174	T	-0.732468	0.00023	T	-0.817667	0.01500	T	0.000768673486481051	0.00007	T	0.107489	0.00805	T	0.028566381	0.02214	0.021326654	0.00188	0.028566381	0.02214	0.021326654	0.00188	-4.989	0.36720	T	.	.	0.054	0.00375	B	.;.	.;.	0.246131	0.06257	2.713	0.12776534085229038	0.00232	0.01860	0.05742	N	AEFBI	0.059169	0.11156	N	-1.48779133580879	0.01936	0.08496802	-1.48934994486925	0.02431	0.1117993	2.7351116049582E-5	0.03498	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.2	-2.15	0.06705	0.051000	0.14025	-0.599000	0.08280	-0.531000	0.04959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3823:0.2003:0.2121:0.2054	0.365	0.00345	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034240	0.020202	0.033967	0.046784	0.000000	0.034483	0.036585	0.018939	0.05	3644.43	34	chr12	129074683	.	G	A	3644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=717;ExcessHet=0;FS=1.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.415;SOR=0.628	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1365	9	0	1	0
chr12	130812996	130812996	T	C	exonic	STX2	.	nonsynonymous SNV	STX2:NM_001351049:exon4:c.A241G:p.I81V,STX2:NM_001351050:exon4:c.A241G:p.I81V,STX2:NM_001980:exon4:c.A241G:p.I81V,STX2:NM_194356:exon4:c.A241G:p.I81V	.	796	723	3	0	0	3	0.00207039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00293128081234	0.0005	0.000399361	0.0007	0	0.0012	0	0	0.0008	0.0044	0.0007	0.0006209	96	154602	rs145834567	0.0004	0.0005	0.0004	0.0005	0.0069	0.0004	0.0004	0.0051	0.0045	3.341e-05	0.0010	0.0017	0	0	0.0069	0.0004	0.0007	0.0007	0.0011	0.0011	0.0011	0.0012	0.0008	0.0010	0.0009	0.0006	0.0006	4.808e-05	0.1077	0.0005	0.0017	0	0	0	0.0008	0	0.0002	0.043	0.41364	D	0.065	0.44702	T	0.99	0.63424	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.999954	0.52396	D	2.58	0.75369	M	1.8	0.25344	T	-0.88	0.24460	N	0.368	0.40963	-0.8920	0.48758	T	0.156	0.48790	T	10	0.009507805	0.00214	T	0.002931	0.06221	T	0.131	0.35738	.	.	0.748185691702	0.74591	0.22864905077774259	0.22779	0.280242865958	0.30504	0.608721494675	0.54134	T	0.114741	0.43279	T	-0.366277	0.03787	T	-0.386854	0.34921	T	0.114977251285718	0.13932	T	0.975769	0.91515	D	0.34274346	0.56497	0.26938286	0.52818	0.34274346	0.56497	0.26938286	0.52817	-5.256	0.39506	T	.	.	0.195	0.41813	B	.;.	.;.	3.468696	0.48378	22.6	0.99886996944704631	0.96204	0.94159	0.60291	D	AEFBI	0.479302	0.52150	N	0.595593572336126	0.72899	5.878889	0.53157682863693	0.70127	5.459584	0.999999978865839	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	4.26	4.26	0.49832	4.896000	0.62911	5.976000	0.52084	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.655	0.56145	895	0.25842	.;Syntaxin, N-terminal domain|Syntaxin, N-terminal domain|Syntaxin, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006559	0.000000	0.002717	0.029240	0.000000	0.000000	0.003067	0.000000	0.05	374.44	32	chr12	130812996	.	T	C	374.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.469;DP=236;ExcessHet=0;FS=0;InbreedingCoeff=-0.0535;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=0.652;SOR=0.519	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,313	9	0	1	0
chr12	131136105	131136105	C	T	exonic	ADGRD1	.	nonsynonymous SNV	ADGRD1:NM_198827:exon22:c.C2336T:p.A779V,ADGRD1:NM_001330497:exon23:c.C2432T:p.A811V	.	408	1103	10	1	0	12	0.00541028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0316882876283	0.0043	0.00219649	0.0032	0.0010	0.0012	0	0.0036	0.0042	0.0011	0.0036	0.0033441	517	154602	rs61746588	0.0052	0.0052	0.0052	0.0052	0.0060	0.0051	0.0051	0.0058	0.0058	0.0010	0.0011	0.0036	2.519e-05	0.0034	0.0024	0.0060	0.0043	0.0038	0.0035	0.0035	0.0037	0.0032	0.0055	0.0032	0.0031	0.0051	0.0049	0.0014	0	0.0016	0.0029	0	0.0031	0.0034	0.0055	0.0033	0.0033	0.553	0.31682	T	0.053	0.48336	T	0.333	0.33288	B	0.348	0.42747	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.32	0.42888	T	-1.77	0.46842	N	0.236	0.35408	-1.0328	0.19554	T	0.099	0.36856	T	10	0.011330992	0.00248	T	0.031688	0.53708	D	0.192	0.47115	.	.	0.340273420219	0.33633	0.6195358704187521	0.61886	0.375101027453	0.38964	0.612511396408	0.54672	T	0.046247	0.27367	T	-0.397878	0.02391	T	-0.341966	0.40123	T	0.0339995679956849	0.02638	T	0.886711	0.61387	D	0.1617801	0.36210	0.09806599	0.23365	0.1617801	0.36210	0.09806599	0.23364	-10.951	0.81858	D	.	.	0.436	0.63504	A	.;.;.;.	.;.;.;.	3.641012	0.51624	23.1	0.99007448783626295	0.50293	.	.	.	.	0.561855	0.56968	D	-0.143630967992697	0.35506	2.040317	-0.194426386223552	0.31741	1.799154	0.230439066823754	0.18459	0.638212	0.43195	0	0.670034	0.63936	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	4.6	3.71	0.41733	5.117000	0.64504	7.379000	0.58442	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.056000	0.15673	0.0:0.902:0.0:0.098	10.360	0.43167	988	0.01987	GPCR, family 2-like;.;GPCR, family 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1085.43	55	chr12	131136105	.	C	T	1085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=550;ExcessHet=0;FS=3.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.73;SOR=1.068	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1097,0,1309	9	0	1	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.15	3563.45	36	chr12	131756617	.	A	G	3563.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.439;DP=524;ExcessHet=0.7463;FS=4.886;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.114;SOR=0.467	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1088,0,1319	7	0	3	0
chr12	131797354	131797354	G	A	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_004592:exon16:c.G2711A:p.R904H,SFSWAP:NM_001261411:exon17:c.G2867A:p.R956H	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	0.0004	0.00359425	0.0028	0.0002	0.0017	0.0005	0	0.0005	0.0013	0.0159	0.0021733	336	154602	rs2229809	0.0013	0.0013	0.0008	0.0017	0.0147	0.0012	0.0012	0.0140	0.0137	0.0002	0.0014	0.0009	5.061e-05	1.92e-05	0.0053	0.0003	0.0021	0.0147	0.0010	0.0010	0.0008	0.0012	0.0145	0.0008	0.0008	0.0118	0.0108	9.62e-05	0	0.0009	0.0026	0	0	0.0034	0.0007	0.0009	0.0145	0.001	0.91255	D	0.07	0.43721	T	0.999	0.77913	D	0.987	0.77487	D	0.000276	0.46590	D	0.176010	1	0.81001	D	2.125	0.59049	M	1.85	0.24472	T	-1.34	0.37375	N	0.489	0.52297	-0.9088	0.47001	T	0.155	0.48568	T	10	0.0063506067	0.00143	T	.	.	.	0.151	0.39764	.	.	0.174091166621	0.17034	0.43951067603578076	0.43868	0.547118669287	0.51680	0.697968900204	0.66850	T	0.07596	0.35303	T	-0.355286	0.04403	T	-0.270796	0.47740	T	0.0346239289348422	0.02744	T	0.892111	0.62800	D	0.17955427	0.39032	0.114189036	0.27561	0.17955427	0.39032	0.114189036	0.27561	-5.681	0.43524	T	.	.	0.093	0.25753	B	.;.	.;.	4.280980	0.65215	24.8	0.99876481571176401	0.95328	0.93280	0.57796	D	AEFDBHCI	0.657473	0.62909	D	0.756565380100216	0.83333	7.989863	0.748075774186384	0.86012	8.755491	0.999999999414607	0.74766	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	6.765000	0.74760	7.190000	0.57771	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.955	0.88984	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005181	0.000000	0.002717	0.013986	0.000000	0.000000	0.003049	0.018939	0.05	516.43	39	chr12	131797354	.	G	A	516.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.765;DP=338;ExcessHet=0;FS=1.331;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=0.243;SOR=0.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:84:.:.:0,84,1260:.	9	0	1	0
chr12	132020180	132020180	C	T	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon22:c.C4409T:p.P1470L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.0195596398276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs890935063	8.918e-06	8.893e-06	8.189e-06	9.655e-06	0.0003	4.98e-06	3.83e-06	6.099e-05	2.524e-05	0	0	0	2.54e-05	0	0.0003	8.106e-06	0	1.173e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.948	0.53620	P	0.325	0.41883	B	0.000066	0.52346	D	0.171847	0.999964	0.52935	D	.	.	.	-2.61	0.90017	D	-2.0	0.77965	N	0.318	0.41459	0.099	0.84160	D	0.596	0.85582	D	10	0.35261542	0.52086	T	0.01956	0.41954	T	0.412	0.72328	.	.	0.466077763902	0.46236	0.133692466304964	0.13293	0.457208605773	0.45367	0.528920769691	0.42882	T	.	.	.	-0.0842131	0.39028	T	-0.186285	0.55937	T	0.79863166809082	0.46261	D	0.893911	0.63238	D	.	.	.	.	.	.	.	.	-6.012	0.46381	T	.	.	0.125	0.26514	B	.;.	.;.	4.132289	0.61850	24.4	0.99067865736980576	0.51645	0.99715	0.98907	D	AEFDBI	0.656220	0.62828	D	0.360789830590521	0.59313	4.109515	0.445025634617636	0.64398	4.694081	0.999999950984105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	5.56	0.83678	5.007000	0.63738	7.589000	0.61191	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.503000	0.29084	0.0:1.0:0.0:0.0	19.516	0.95159	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2592.12	35	chr12	132020180	.	C	T	2592.12	.	AC=2;AF=0.1;AN=20;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.5;SOR=1.694	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	9	1	0	0
chr12	132062524	132062526	GCA	-	exonic	EP400	.	nonframeshift deletion	EP400:NM_015409:exon47:c.8157_8159del:p.Q2748del	.	350	929	220	16	7	259	0.119431	.	.	.	3198656	EP400-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0695	.	0.0079	0.0062	0.0086	0.0139	0.0069	0.0074	0.0037	0.0077	0.0045336	118	26028	rs751944198	8.771e-05	0.0006	9.222e-05	8.317e-05	0.0004	7.501e-05	6.991e-05	0.0002	0.0002	0.0004	6.891e-05	0	7.673e-05	0.0001	0	7.45e-05	5.091e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0	0.0002	0	0	0.0001	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	9177.6	34	chr12	132062523	.	GGCA	G	9177.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.945;DP=1190;ExcessHet=0.3701;FS=0.523;InbreedingCoeff=0.1996;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.753;SOR=0.758	GT:AD:DP:GQ:PL	0/0:88,0:130:99:873,1140,4178	8	0	2	0
chr12	132064762	132064762	A	C	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon48:c.A8429C:p.Q2810P	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.0340409655114	.	0.000798722	0.0003	0.0003	0.0003	0	0	0.0002	0	0.0005	0.0002587	40	154602	rs150439516	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0003	0.0065	0.0058	0.0010	0.0003	0	0	0	0.0083	0.0003	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	8.876e-05	0.0002	0	0.0003	0	0	9.414e-05	0	0.0002	0.0009	0.0004	0.083	0.33091	T	0.136	0.34009	T	0.984	0.60733	D	0.964	0.71005	D	0.009937	0.30138	N	0.320533	0.857456	0.35865	D	.	.	.	-3.12	0.92774	D	-1.54	0.37375	N	0.494	0.52740	0.470	0.90121	D	0.687	0.89198	D	10	0.15654469	0.29480	T	0.034041	0.55401	D	0.478	0.76946	.	.	0.865626787234	0.86432	0.5247952295373927	0.52403	0.788903395168	0.65670	0.435491979122	0.29960	T	.	.	.	0.0142557	0.53604	T	0.143495	0.79771	D	0.0464809906585061	0.04872	T	0.424058	0.11326	T	.	.	.	.	.	.	.	.	-4.878	0.35487	T	.	.	0.053	0.00291	B	.;.	.;.	1.605475	0.20521	14.79	0.97096431835748542	0.32349	0.92116	0.54980	D	AEFDGBHCI	0.379554	0.46253	N	0.066520036217017	0.44904	2.756234	0.000872176055159726	0.39757	2.362128	0.999999999891712	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	3.498000	0.53064	2.880000	0.35323	-0.111000	0.15049	1.000000	0.71638	0.961000	0.29326	0.031000	0.13245	1.0:0.0:0.0:0.0	14.316	0.66006	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.010870	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	336.43	35	chr12	132064762	.	A	C	336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.527;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-0.143;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	9	0	1	0
chr12	132139675	132139675	C	T	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon14:c.G1934A:p.R645Q	.	424	1097	1	0	0	1	0.000455581	.	.	.	2424938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.020095575888	0.0002	.	0.0002	0.0003	0.0002	0	0	0.0003	0.0011	0	0.0001876	29	154602	rs200730907	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0	2.519e-05	5.73e-05	0	0.0002	8.281e-05	0	0.0001	0.0001	0.0001	6.722e-05	0.0002	6.51e-05	5.322e-05	7.89e-05	5.586e-05	0.0002	0	0.0001	0	0	0	0	0.0001	0	0	0.368	0.11623	T	0.429	0.13752	T	0.051	0.22415	B	0.017	0.18140	B	0.007977	0.31093	N	0.320936	0.999993	0.08975	N	0.83	0.20963	L	4.53	0.01980	T	-0.33	0.12472	N	0.206	0.22870	-0.8984	0.48155	T	0.006	0.02131	T	10	0.04831344	0.04264	T	0.020096	0.42623	T	0.020	0.03691	.	.	0.144782658237	0.14088	0.494042030794622	0.49325	0.0456167028869	0.04953	0.200592756271	0.00474	T	0.006167	0.05608	T	-0.564474	0.00239	T	-0.751045	0.03445	T	0.0107012512162328	0.00151	T	0.70223	0.31206	T	0.029982297	0.02583	0.03260221	0.02021	0.029982297	0.02582	0.03260221	0.02021	-5.52	0.42054	T	.	.	0.070	0.03552	B	.	.	-0.061063	0.03878	0.845	0.76747152310328837	0.11593	0.11581	0.16728	N	AEFBCI	0.053596	0.09671	N	-0.989920079763169	0.08818	0.4149424	-1.03017069732989	0.09125	0.452273	0.00572121514008691	0.11025	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.59	1.2	0.20181	-0.225000	0.09156	-4.959000	0.01910	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.6013:0.0:0.3987	6.929	0.23611	912	0.21483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2639.14	35	chr12	132139675	.	C	T	2639.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.672;DP=484;ExcessHet=0.2348;FS=1.159;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.424;SOR=0.801	GT:AD:DP:GQ:PL	0/1:41,36:77:99:932,0,1096	8	0	2	0
chr12	132139769	132139769	C	T	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon14:c.G1840A:p.E614K	.	421	1082	19	0	0	19	0.00870362	0.9972	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	8.2e-05	0.00139776	0.0011	0	0.0003	0	0	0.0003	0.0045	0.0059	0.0009702	150	154602	rs61756267	0.0006	0.0006	0.0004	0.0008	0.0052	0.0006	0.0005	0.0048	0.0046	0.0001	0.0012	0.0021	0	0	0.0045	0.0002	0.0012	0.0052	0.0007	0.0007	0.0005	0.0009	0.0052	0.0006	0.0005	0.0036	0.0031	7.214e-05	0	0.0029	0.0037	0	0	0	0.0003	0.0005	0.0052	0.025	0.47320	D	0.18	0.29442	T	0.129	0.27048	B	0.046	0.24676	B	0.000001	0.62929	D	0.054980	1	0.81001	D	1.445	0.36358	L	3.57	0.04645	T	-1.73	0.41046	N	0.471	0.50688	-1.0126	0.26101	T	0.016	0.06569	T	10	0.0046678483	0.00098	T	0.032693	0.54453	D	0.134	0.36365	.	.	0.403752378121	0.39992	0.7178263397088908	0.71725	0.0552922057858	0.06117	0.499011039734	0.38689	T	0.008297	0.07627	T	-0.369205	0.03634	T	-0.301609	0.44555	T	0.0634454041719437	0.07699	T	0.915108	0.69728	D	0.26220235	0.49281	0.20861706	0.45170	0.26220235	0.49281	0.20861706	0.45169	-12.861	0.88782	D	.	.	0.325	0.54876	B	.	.	6.167891	0.94711	34	0.99256196848607692	0.57055	0.94742	0.62174	D	AEFBCI	0.626278	0.60916	D	-0.185047597707506	0.33756	1.918782	-0.100251716439137	0.35381	2.046259	0.999994146298054	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.59	4.59	0.56297	2.670000	0.46499	7.547000	0.60197	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.031000	0.13245	0.0:1.0:0.0:0.0	14.905	0.70355	912	0.21483	Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.005848	0.000000	0.008621	0.018293	0.000000	0.05	1922.43	35	chr12	132139769	.	C	T	1922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.242;DP=473;ExcessHet=0;FS=4.087;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-2.488;SOR=0.472	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1332	9	0	1	0
chr12	132148829	132148829	G	A	exonic	NOC4L	.	nonsynonymous SNV	NOC4L:NM_024078:exon9:c.G835A:p.A279T	.	.	.	.	.	.	.	.	.	.	.	3355406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.00616720140233	0.0007	0.000199681	0.0010	0.0004	0.0015	0.0001	0	0.0012	0.0032	0.0009	0.0007374	114	154602	rs140762828	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0007	0.0005	0.0003	0.0005	0.0003	2.523e-05	2.163e-05	0.0014	0.0001	0.0004	0.0001	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0008	0.0007	0.0003	0	0.0013	0	0.0002	0	0.0216	0.0003	0.0005	0.0002	0.207	0.19854	T	0.445	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	0.191651	0.16830	N	0.637248	1	0.08975	N	0.28	0.10031	N	1.56	0.29602	T	0.08	0.06026	N	0.338	0.37923	-1.0907	0.05416	T	0.024	0.10103	T	10	0.01662454	0.00351	T	0.006167	0.16170	T	0.238	0.54217	.	.	0.183819452728	0.17975	0.4869934369728534	0.48619	.	.	0.300271511078	0.10441	T	0.044051	0.26695	T	-0.353718	0.04498	T	-0.448308	0.27883	T	0.0184311456517339	0.00560	T	0.684232	0.29249	T	0.016634857	0.00211	0.03344463	0.02239	0.016634857	0.00211	0.03344463	0.02239	-4.634	0.32596	T	.	.	0.063	0.04640	B	.;.	.;.	0.424665	0.07954	4.662	0.90580583858532193	0.19835	0.03040	0.07930	N	AEFI	0.038140	0.05353	N	-1.63202479994846	0.01113	0.04832853	-1.73064430748426	0.01008	0.04519675	0.914462908177407	0.26454	0.732398	0.92422	0	0.643519	0.57511	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	5.35	-10.2	0.00305	0.252000	0.18046	-1.299000	0.05779	-1.832000	0.00589	0.053000	0.21524	0.000000	0.08366	0.001000	0.02609	0.3676:0.0619:0.3916:0.1789	3.972	0.08948	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011513	0.034091	0.015068	0.004000	0.000000	0.017241	0.000000	0.003937	0.1	1928.12	33	chr12	132148829	.	G	A	1928.12	.	AC=2;AF=0.1;AN=20;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.21;SOR=1.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1134	9	1	0	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10687.2	33	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	A	10687.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=576;ExcessHet=0.0059;FS=9.734;InbreedingCoeff=0.6;MLEAC=1;MLEAF=0.05;MQ=59.61;MQRankSum=-0.878;QD=30.28;ReadPosRankSum=-1.424;SOR=1.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,66:92:99:.:.:3278,1108,1080:.	9	0	1	0
chr12	132508201	132508201	C	T	exonic	FBRSL1	.	nonsynonymous SNV	FBRSL1:NM_001142641:exon2:c.C340T:p.R114C,FBRSL1:NM_001367871:exon2:c.C340T:p.R114C,FBRSL1:NM_001382739:exon2:c.C340T:p.R114C,FBRSL1:NM_001382740:exon2:c.C340T:p.R114C,FBRSL1:NM_001382741:exon2:c.C340T:p.R114C,FBRSL1:NM_001382742:exon2:c.C43T:p.R15C,FBRSL1:NM_001382743:exon2:c.C340T:p.R114C	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.100248050987	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs774632428	3.288e-05	3.147e-05	4.091e-05	2.464e-05	0.0001	2.521e-05	2.255e-05	7.727e-05	5.922e-05	0	0	0	2.798e-05	0	0	2.966e-05	3.449e-05	0.0001	3.285e-05	3.283e-05	5.138e-05	1.345e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	0.024	0.47745	D	0.02	0.58613	D	1.0	0.90584	D	0.933	0.66815	D	.	.	.	.	0.999919	0.19599	N	1.445	0.36358	L	1.41	0.33412	T	-2.36	0.52128	N	0.266	0.30118	-0.9563	0.39861	T	0.167	0.50648	T	9	0.21993741	0.38677	T	0.100248	0.77241	D	0.114	0.32008	0.354	0.35408	0.406806705197	0.40296	0.2070280584551769	0.20618	.	.	0.558578014374	0.47068	T	0.112825	0.42939	T	-0.328256	0.06243	T	-0.505693	0.21759	T	0.631990544911756	0.37701	D	0.884811	0.67067	D	0.18640661	0.40047	0.13836497	0.33045	0.18640661	0.40047	0.13836497	0.33044	-8.461	0.64171	D	.	.	0.195	0.65181	B	.;.;.	.;.;.	4.099554	0.61118	24.3	0.99905991592819909	0.97651	0.11798	0.16869	N	AEFDBIJ	0.179622	0.30691	N	0.0539061322667307	0.44322	2.70841	-0.10525020446456	0.35178	2.032128	0.999999804825177	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.19	4.19	0.48645	-0.130000	0.10477	5.767000	0.49719	0.589000	0.31548	0.000000	0.06391	1.000000	0.68203	0.202000	0.21954	0.0:1.0:0.0:0.0	14.425	0.66785	482	0.77288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	624.43	35	chr12	132508201	.	C	T	624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.074;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=-0.77;SOR=0.678	GT:AD:DP:GQ:PL	0/1:17,25:42:99:636,0,386	9	0	1	0
chr12	132665431	132665431	G	A	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon21:c.C2339T:p.S780L	FILS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	398714	not_provided|POLE-related_disorder|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.193	0.016639674134	.	.	8.279e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs778288256	3.153e-05	3.215e-05	3.819e-05	2.479e-05	0.0003	2.417e-05	2.162e-05	6.094e-05	2.522e-05	0	4.473e-05	0	0	0	0.0003	3.778e-05	0	0	1.973e-05	1.97e-05	3.856e-05	0	4.41e-05	5.24e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.009	0.57480	D	0.255	0.23365	T	0.675	0.48784	P	0.509	0.47904	P	0.000000	0.84330	D	0.055226	0.999934	0.19363	N	2.045	0.56016	M	2.24	0.17923	T	-3.25	0.65283	D	0.572	0.63204	-1.0907	0.05416	T	0.054	0.22883	T	10	0.5519331	0.64304	D	0.01664	0.37992	T	0.193	0.47281	0.47	0.54376	0.451599300725	0.44785	0.39469590154459505	0.39384	0.825720942332	0.67392	0.51474571228	0.40887	T	0.277823	0.65045	T	-0.254165	0.13593	T	-0.42702	0.30274	T	0.756516575813293	0.43652	D	0.908809	0.67676	D	0.2630334	0.49366	0.26682088	0.52532	0.2630334	0.49366	0.26682088	0.52531	-9.951	0.73618	D	0.3270863527388932	0.42521	0.070	0.03515	B	.;.	.;.	3.559497	0.50079	22.9	0.9934373827422005	0.60291	0.92746	0.56445	D	AEFDBI	0.496561	0.53145	N	0.0235795000812611	0.42927	2.595941	-0.0485529157066091	0.37552	2.200334	0.999995497966672	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	3.81	0.43020	6.640000	0.74174	4.675000	0.44295	0.605000	0.46263	1.000000	0.71638	0.989000	0.31174	0.018000	0.11154	0.0696:0.1412:0.7892:0.0	11.149	0.47674	900	0.24599	DNA-directed DNA polymerase, family B, multifunctional domain;DNA-directed DNA polymerase, family B, multifunctional domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2260.12	34	chr12	132665431	.	G	A	2260.12	.	AC=2;AF=0.1;AN=20;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.61;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1136	9	1	0	0
chr12	133010770	133010770	G	C	exonic	ZNF26	.	nonsynonymous SNV	ZNF26:NM_001256280:exon3:c.G795C:p.L265F,ZNF26:NM_019591:exon4:c.G891C:p.L297F,ZNF26:NM_001256279:exon5:c.G990C:p.L330F,ZNF26:NM_001330513:exon5:c.G831C:p.L277F,ZNF26:NM_001330514:exon5:c.G831C:p.L277F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00879506846839	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879239416	1.095e-05	1.095e-05	4.085e-06	1.788e-05	0.0003	6.48e-06	5.25e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0003	3.598e-06	0	0.0001	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.49613	D	0.087	0.40747	T	0.115	0.26429	B	0.017	0.18140	B	0.015111	0.28339	N	0.000000	0.99904	0.21681	N	0.68	0.16426	N	2.41	0.15492	T	-1.11	0.31375	N	0.161	0.16864	-1.0056	0.28277	T	0.016	0.06616	T	9	0.066979975	0.09266	T	0.008795	0.23196	T	0.055	0.15663	0.462	0.53079	0.0401082797425	0.02173	0.041853809287092	0.04130	.	.	0.628104627132	0.56875	T	0.068802	0.33550	T	-0.204871	0.20107	T	-0.53206	0.19081	T	0.0743839988331244	0.09253	T	0.218578	0.03512	T	0.08629617	0.20053	0.1160189	0.28009	0.08629617	0.20052	0.1160189	0.28008	-3.168	0.12094	T	.	.	0.421	0.60746	A	.;.	.;.	2.243318	0.28645	17.87	0.99875059868874982	0.95244	0.25329	0.22666	N	AEFDBHI	0.107615	0.21435	N	-0.638013589806084	0.17812	0.9196797	-0.537442359495725	0.21140	1.142198	0.0336086876767862	0.14114	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.13	2.27	0.27501	0.274000	0.18443	0.369000	0.17657	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2932:0.0:0.4889:0.2179	2.638	0.04663	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3048.14	35	chr12	133010770	.	G	C	3048.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.51;DP=557;ExcessHet=0.2348;FS=2.789;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-2.129;SOR=0.797	GT:AD:DP:GQ:PL	0/1:61,43:104:99:1237,0,1702	8	0	2	0
chr12	133057131	133057131	A	G	exonic	ZNF84	.	nonsynonymous SNV	ZNF84:NM_001127372:exon5:c.A416G:p.H139R,ZNF84:NM_001289971:exon5:c.A416G:p.H139R,ZNF84:NM_001289972:exon5:c.A416G:p.H139R,ZNF84:NM_003428:exon5:c.A416G:p.H139R	.	437	1040	43	2	0	47	0.0220969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00447556693994	.	.	.	.	.	.	.	.	.	.	0.0009444	146	154602	rs34737533	0.0090	0.0090	0.0083	0.0096	0.0264	0.0088	0.0088	0.0255	0.0251	0.0013	0.0020	0.0211	5.043e-05	0.0117	0.0153	0.0080	0.0088	0.0264	0.0062	0.0062	0.0059	0.0065	0.0253	0.0059	0.0057	0.0216	0.0203	0.0013	0	0.0018	0.0248	0	0.0106	0.0136	0.0077	0.0047	0.0253	0.114	0.28646	T	0.242	0.24264	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	3.28	0.06523	T	-1.93	0.48020	N	0.106	0.09914	-0.9089	0.46989	T	0.011	0.04181	T	9	0.00363034	0.00066	T	0.004476	0.10969	T	0.034	0.08419	0.324	0.30549	0.0884992946249	0.08302	0.024537132809481346	0.02404	.	.	0.391508877277	0.23882	T	0.023923	0.22444	T	-0.28398	0.10251	T	-0.645694	0.09259	T	0.0269218725694647	0.01533	T	0.00476952	0.20971	T	0.10477009	0.24768	0.11534372	0.27843	0.10477009	0.24768	0.11534372	0.27842	-5.897	0.45410	T	.	.	0.119	0.24498	B	.;.;.;.;.	.;.;.;.;.	1.430539	0.18485	13.76	0.81679202589218514	0.13806	0.05815	0.11754	N	AEFGBI	0.065066	0.12669	N	-0.815567604091794	0.12913	0.63255	-0.763042789295934	0.15402	0.8098858	0.00987751702512974	0.11927	0.562547	0.31514	0	0.614415	0.52539	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	2.4	1.25	0.20475	0.055000	0.14112	0.928000	0.22757	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.8275:0.0:0.1725:0.0	4.153	0.09711	884	0.28482	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1287.43	39	chr12	133057131	.	A	G	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.409;DP=501;ExcessHet=0;FS=2.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.494;SOR=0.962	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	9	0	1	0
chr13	19465563	19465563	A	G	exonic	TPTE2	.	nonsynonymous SNV	TPTE2:NM_130785:exon6:c.T283C:p.W95R,TPTE2:NM_001141968:exon7:c.T181C:p.W61R,TPTE2:NM_199254:exon9:c.T514C:p.W172R	.	698	816	7	1	0	9	0.00548446	0.0178	0.176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	.	.	0.000798722	0.0019	0.0001	0.0006	0.0001	0	0.0002	0.0026	0.0127	0.0013454	208	154602	rs201557972	0.0006	0.0006	0.0003	0.0008	0.0088	0.0005	0.0005	0.0083	0.0080	0	0.0003	0	0	0	0.0029	2.995e-05	0.0009	0.0088	0.0003	0.0003	0.0002	0.0004	0.0072	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0072	0.157	0.65419	T	0.112	0.51421	T	0.501	0.40197	P	0.495	0.47504	P	0.010647	0.29839	U	0.296702	1	0.08975	N	1.355	0.33814	L	-4.33	0.97292	D	-0.44	0.57599	N	0.276	0.37093	0.219	0.86234	D	0.785	0.92715	D	9	0.008460581	0.00192	T	.	.	.	0.376	0.69443	0.653	0.79068	0.608043754429	0.60489	0.5700239888666144	0.56930	0.973007424957	0.73449	0.362210005522	0.19707	T	0.320508	0.69169	T	-0.210949	0.19245	T	-0.0678284	0.65780	T	0.021053259569756	0.00806	T	0.261374	0.16548	T	0.14895096	0.33980	0.12575883	0.30295	0.14895096	0.33980	0.12575883	0.30295	-6.979	0.73719	T	.	.	0.325	0.67500	B	.;.;.;.;.	.;.;.;.;.	2.301024	0.29447	18.12	0.73640730079285144	0.10401	0.08052	0.14026	N	AEFI	0.045884	0.07554	N	-0.730678574100121	0.15164	0.7617831	-0.866957534573425	0.12881	0.6651423	1.36423116625974E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.79	-1.16	0.09181	0.212000	0.17289	0.190000	0.15733	0.542000	0.25261	0.683000	0.28466	0.000000	0.08366	0.026000	0.12556	0.3936:0.2522:0.3542:0.0	2.965	0.05545	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001225	0.000000	0.000000	0.000000	0.000000	0.000000	0.008264	0.004348	0.05	1435.43	113	chr13	19465563	.	A	G	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.165;DP=460;ExcessHet=0;FS=4.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=0;QD=12.7;ReadPosRankSum=-2.568;SOR=1.131	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr13	19705660	19705660	A	G	splicing	PSPC1	NM_001042414:exon9:c.1386+2T>C;NM_001354909:exon8:c.1386+2T>C	.	.	.	432	1076	14	0	0	14	0.00646353	1.0000	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0101	0.0004	0	0.0007	0.0004	0	0.0049	3.84e-05	1	26028	rs199978034	0.0005	0.0021	0.0004	0.0006	0.0072	0.0005	0.0005	0.0064	0.0061	0.0072	0.0003	0.0005	2.532e-05	5.703e-05	0.0009	0.0001	0.0007	0.0040	0.0004	0.0041	0.0003	0.0004	0.0031	0.0003	0.0003	0.0019	0.0015	0.0009	0	0.0002	0	0.0002	0	0	2.983e-05	0.0010	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280988	0.81399	D	0.165844	0.81160	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.050697	0.94439	34	0.99401453346165403	0.62841	0.99464	0.96353	D	AEFBI	.	.	.	1.09589224680318	0.98058	17.332	0.939478605788397	0.97075	15.55247	0.999877557762358	0.44625	0.322412	0.05557	0	0.31918	0.05746	0	0.083675	0.02720	0	0.117559	0.03655	0	0.962906	0.66854	5.08	5.08	0.68373	7.575000	0.81761	11.212000	0.89433	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.123	0.72137	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	98.45	82	chr13	19705660	.	A	G	98.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.41;DP=451;ExcessHet=0;FS=2.367;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.05;MQ=45.49;MQRankSum=-3.096;QD=1.59;ReadPosRankSum=-2.403;SOR=1.36	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	9	0	1	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S,PSPC1:NM_001042414:exon9:c.A1349G:p.N450S	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007380	0.017857	0.009642	0.013274	0.000000	0.000000	0.007874	0.000000	0.05	351.43	85	chr13	19705699	.	T	C	351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.458;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.15;MQRankSum=-5.356;QD=2.98;ReadPosRankSum=-2.862;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1048	9	0	1	0
chr13	19993526	19993526	G	C	exonic	ZMYM2	.	nonsynonymous SNV	ZMYM2:NM_001190965:exon3:c.G454C:p.D152H,ZMYM2:NM_001353157:exon3:c.G454C:p.D152H,ZMYM2:NM_001353159:exon3:c.G454C:p.D152H,ZMYM2:NM_001353163:exon3:c.G454C:p.D152H,ZMYM2:NM_001353164:exon3:c.G454C:p.D152H,ZMYM2:NM_001353165:exon3:c.G454C:p.D152H,ZMYM2:NM_197968:exon3:c.G454C:p.D152H,ZMYM2:NM_001190964:exon4:c.G454C:p.D152H,ZMYM2:NM_001353161:exon4:c.G520C:p.D174H,ZMYM2:NM_003453:exon4:c.G454C:p.D152H,ZMYM2:NM_001353162:exon5:c.G454C:p.D152H	.	.	.	.	.	.	.	.	.	.	.	725413	Neurodevelopmental-craniofacial_syndrome_with_variable_renal_and_cardiac_abnormalities|not_provided	MONDO:MONDO:0859190,MedGen:C5561984,OMIM:619522|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.098	0.00794021349125	0.0030	0.00159744	0.0034	0.0008	0.0015	0	0.0045	0.0053	0.0033	0.0001	0.0032729	506	154602	rs35516773	0.0037	0.0037	0.0037	0.0037	0.0042	0.0036	0.0036	0.0041	0.0041	0.0004	0.0021	0.0015	0	0.0063	0.0014	0.0042	0.0033	4.64e-05	0.0031	0.0031	0.0034	0.0029	0.0052	0.0029	0.0028	0.0047	0.0045	0.0006	0	0.0025	0.0014	0	0.0038	0.0034	0.0052	0.0066	0	0.006	0.61437	D	0.025	0.56192	D	0.731	0.42679	P	0.45	0.46092	P	0.002056	0.37364	N	0.231865	0.733961	0.33749	D	2.05	0.56469	M	1.4	0.33630	T	-2.06	0.47175	N	0.347	0.41360	-0.9577	0.39608	T	0.123	0.42526	T	10	0.006703675	0.00152	T	0.00794	0.21059	T	0.098	0.28162	.	.	0.31316556289	0.30919	0.3907668601597996	0.38991	.	.	0.591616928577	0.51722	T	0.360109	0.72731	T	-0.406934	0.02083	T	-0.352322	0.38938	T	0.0350671209595358	0.02819	T	0.953905	0.82456	D	0.12434709	0.29178	0.14997244	0.35388	0.12434709	0.29178	0.14997244	0.35387	-4.101	0.25305	T	.	.	0.174	0.51729	B	.;.;.;.	.;.;.;.	4.355564	0.66934	25.0	0.99369017556632866	0.61368	0.95549	0.65164	D	AEFGBI	0.508799	0.53853	D	0.551434083007148	0.70168	5.462291	0.586248499678422	0.73954	6.055483	0.999999402215224	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	4.093000	0.57440	9.934000	0.82603	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0753:0.0:0.9247:0.0	12.825	0.57097	862	0.33134	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	2509.43	33	chr13	19993526	.	G	C	2509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.586;DP=493;ExcessHet=0;FS=4.275;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=0.995;QD=13.86;ReadPosRankSum=-0.817;SOR=0.759	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1198	9	0	1	0
chr13	20489381	20489381	T	C	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon3:c.A265G:p.M89V,CRYL1:NM_015974:exon3:c.A265G:p.M89V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0115111274047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.642	0.04972	T	0.437	0.14241	T	0.0	0.02946	B	0.001	0.04355	B	0.339707	0.13982	N	0.753598	1	0.08975	N	-0.65	0.02095	N	-0.98	0.75789	T	-0.21	0.10308	N	0.07	0.05542	-0.9780	0.35458	T	0.096	0.36055	T	10	0.0695577	0.09996	T	0.011511	0.29207	T	0.213	0.50496	0.616	0.75000	0.132336055621	0.12781	0.4821733683451786	0.48137	0.193578547885	0.21691	0.246857315302	0.03444	T	0.140505	0.47507	T	-0.226595	0.17102	T	-0.563264	0.16071	T	0.0281886956001466	0.01716	T	0.711029	0.32905	T	0.112132	0.26494	0.07956691	0.17924	0.112132	0.26493	0.07956691	0.17923	-1.804	0.03512	T	.	.	0.058	0.01408	B	.;.;.;.	.;.;.;.	-0.803880	0.01099	0.049	0.59583110333686606	0.06259	0.00524	0.02436	N	ALL	0.136595	0.25731	N	-1.9107347795612	0.00326	0.0140185	-1.92532144487048	0.00436	0.01929046	0.999999999999733	0.74766	0.706298	0.61202	0	0.779548	0.99637	0	0.659943	0.59835	0	0.613276	0.41899	0	.	.	5.6	-11.2	0.00099	-0.506000	0.06441	-2.712000	0.03440	-1.675000	0.00794	0.472000	0.26737	0.000000	0.08366	0.551000	0.30197	0.0:0.4672:0.3086:0.2243	10.385	0.43317	862	0.33134	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1947.43	33	chr13	20489381	.	T	C	1947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=429;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=0.348;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1090:.	9	0	1	0
chr13	20512513	20512513	T	C	exonic	CRYL1	.	nonsynonymous SNV	CRYL1:NM_001363647:exon2:c.A79G:p.S27G,CRYL1:NM_015974:exon2:c.A79G:p.S27G	.	8	1511	3	0	0	3	0.000991736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0238275151096	0.0003	0.000199681	0.0002	0	0.0004	0	0	0.0002	0	0.0003	0.0001876	29	154602	rs201748334	0.0001	0.0001	9.121e-05	0.0001	0.0019	9.05e-05	8.532e-05	0.0011	0.0008	0	0.0001	0.0013	0	0	0.0019	4.676e-05	0.0002	0.0004	0.0001	0.0001	0.0001	0.0002	0.0008	8.657e-05	7.25e-05	0.0003	0.0002	0	0	0.0001	0.0014	0	0	0.0034	0.0001	0.0005	0.0008	0.244	0.17468	T	0.485	0.12421	T	0.207	0.29891	B	0.149	0.34106	B	0.000001	0.84330	N	0.126220	0.99937	0.50595	D	1.52	0.38360	L	-1.09	0.77206	T	-1.03	0.28084	N	0.186	0.20262	-0.8065	0.54760	T	0.282	0.65359	T	10	0.043402553	0.03186	T	0.023828	0.46806	T	0.166	0.42578	.	.	0.574533306093	0.57122	0.53266866701041	0.53191	0.231166425372	0.25661	0.490114033222	0.37455	T	0.253714	0.62428	T	-0.269384	0.11826	T	-0.328536	0.41631	T	0.0275458127256736	0.01622	T	0.777122	0.42203	T	0.20102571	0.42098	0.07880914	0.17684	0.20102571	0.42098	0.07880914	0.17684	-8.392	0.63712	D	.	.	0.076	0.13830	B	.;.;.;.	.;.;.;.	1.848353	0.23484	16.03	0.92254471279087458	0.21634	0.66991	0.33272	D	AEFBI	0.264074	0.38149	N	-0.237997059770668	0.31585	1.772544	-0.114564582281258	0.34802	2.006075	0.918479003275392	0.26573	0.706298	0.61202	0	0.709663	0.81188	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	5.65	3.24	0.36257	0.664000	0.24749	1.142000	0.24413	-0.674000	0.04282	1.000000	0.71638	1.000000	0.68203	0.273000	0.23843	0.1359:0.152:0.0:0.7121	4.998	0.13597	728	0.54609	3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding;3-hydroxyacyl-CoA dehydrogenase, NAD binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.005848	0.000000	0.000000	0.006135	0.000000	0.05	697.43	33	chr13	20512513	.	T	C	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.208;DP=391;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.413;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	9	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46,SKA3:NM_145061:exon9:c.1238_1239insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.*413delinsCATQ*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	413.39	34	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	413.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.61;DP=378;ExcessHet=0;FS=8.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.253;SOR=1.72	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,900	9	0	1	0
chr13	21155151	21155151	-	AG	splicing	SKA3	NM_145061:exon9:c.1239-1->CT;NM_001166017:exon8:c.1120-1->CT	.	.	.	433	984	41	0	64	105	0.0204082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.512e-05	9.235e-05	6.967e-05	0.0001	0.0003	7.234e-05	6.82e-05	7.158e-05	5.507e-05	0	0.0001	0.0002	0.0002	0.0008	0.0003	4.061e-05	9.975e-05	0.0001	0.0025	0.0033	0.0022	0.0028	0.0044	0.0023	0.0022	0.0029	0.0025	0.0006	0.0011	0.0030	0.0041	0.0043	0.0058	0.0034	0.0027	0.0043	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	805.39	34	chr13	21155151	.	C	CAG	805.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.41;DP=350;ExcessHet=0;FS=2.327;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-1.754;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:60:.:.:0,60,900:.	9	0	1	0
chr13	21155152	21155152	-	TTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTG	splicing	SKA3	NM_145061:exon9:c.1239-2->CACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAA;NM_001166017:exon8:c.1120-2->CACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAA	.	.	.	456	1062	4	0	0	4	0.0018797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0.0008	0	0.0003	0.0031	0.0002	.	.	.	.	6.038e-05	5.541e-05	5.047e-05	7.052e-05	0.0004	4.881e-05	4.481e-05	7.935e-05	5.86e-05	0	0	4.741e-05	4.049e-05	0.0012	0.0004	1.521e-05	8.352e-05	0.0002	0.0007	0.0013	0.0005	0.0009	0.0025	0.0006	0.0005	0.0012	0.0008	7.757e-05	0	0.0006	0.0008	0.0025	0.0029	0.0041	0.0007	0.0013	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	805.39	34	chr13	21155152	.	T	TTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTG	805.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.94;DP=350;ExcessHet=0;FS=2.327;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=-2.469;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:21,0:21:60:.:.:0,60,900:.	9	0	1	0
chr13	21155813	21155813	-	GG	splicing	SKA3	NM_145061:exon8:c.1120-2->CC	.	.	.	629	164	50	18	661	747	0.207729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0.0001	0.0001	0.0029	0.0001	9.502e-05	0.0017	0.0013	4.473e-05	3.209e-05	4.826e-05	2.856e-05	0.0011	0.0029	5.098e-05	6.97e-05	0.0002	0.0007	0.0008	0.0005	0.0010	0.0018	0.0006	0.0006	0.0009	0.0007	0.0003	0	0.0010	0.0012	0.0018	0.0021	0	0.0007	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	8245.41	74	chr13	21155813	.	T	TGG	8245.41	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.14;DP=603;ExcessHet=0.0405;FS=3.03;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.81;ReadPosRankSum=-0.437;SOR=0.526	GT:AD:DP:GQ:PL	0/0:1,0:20:99:544,516,512	9	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	splicing	SKA3	NM_145061:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	437	1077	1	0	7	8	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0005	0.0013	0.0016	0.0009	0.0009	0.0013	0.0012	0.0001	0.0004	0.0002	0.0016	0.0036	0.0011	0.0009	0.0009	0.0006	9.245e-05	0.0006	5.162e-05	0.0001	0.0004	5.554e-05	4.386e-05	6.934e-05	5.109e-05	2.419e-05	0	6.588e-05	0	0.0004	9.537e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1245.39	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	1245.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.56;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-3.061;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	9	0	1	0
chr13	23341643	23341643	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon8:c.C1792T:p.R598C,SACS:NM_014363:exon10:c.C2233T:p.R745C	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	588936	not_provided|Spastic_paraplegia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0605284500402	.	.	8.559e-06	0	0	0	0	1.568e-05	0	0	6.5e-06	1	154602	rs536614181	2.053e-05	2.052e-05	1.907e-05	2.201e-05	2.52e-05	1.457e-05	1.264e-05	1.627e-05	1.382e-05	0	0	0	2.52e-05	0	0	2.338e-05	3.312e-05	1.159e-05	2.628e-05	2.625e-05	0	5.374e-05	6.541e-05	8.14e-06	5.14e-06	7.98e-06	2.99e-06	4.816e-05	0	6.541e-05	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.0	0.92824	D	0.998	0.73220	D	0.916	0.65201	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.36	0.67893	M	2.16	0.19166	T	-2.71	0.57762	D	0.908	0.90932	-0.4324	0.70988	T	0.367	0.72712	T	10	0.62384486	0.68130	D	0.060528	0.68029	D	0.419	0.72855	.	.	0.585564602418	0.58230	0.6076659961182759	0.60698	.	.	0.742390453815	0.73325	T	0.547116	0.84598	D	0.236653	0.77347	D	0.102159	0.77053	D	0.90763384103775	0.56198	D	0.975102	0.91204	D	0.35253352	0.57263	0.2726602	0.53179	0.35253352	0.57263	0.2726602	0.53178	-3.953	0.23098	T	0.6627424212363653	0.73649	0.600	0.74570	P	.;.	.;.	5.469122	0.91250	32	0.99944440976944071	0.99868	0.98746	0.86321	D	AEFBI	0.907993	0.86272	D	0.583564634316321	0.72149	5.760493	0.669621475805427	0.80078	7.219858	0.999999999945875	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.05	6.05	0.98156	7.618000	0.82239	9.985000	0.82948	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8603:0.1397	15.333	0.73940	986	0.02773	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1326.43	78	chr13	23341643	.	G	A	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.372;DP=633;ExcessHet=0;FS=3.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=0.558;SOR=0.478	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1238	9	0	1	0
chr13	23891902	23891902	A	C	exonic	C1QTNF9B;PCOTH	.	nonsynonymous SNV	C1QTNF9B:NM_001007537:exon3:c.T389G:p.V130G,PCOTH:NM_001014442:exon4:c.A295C:p.T99P,PCOTH:NM_001135816:exon4:c.A322C:p.T108P,PCOTH:NM_001348112:exon4:c.A322C:p.T108P,PCOTH:NM_001348113:exon4:c.A295C:p.T99P,PCOTH:NM_001348114:exon4:c.A295C:p.T99P	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	.	0.0011	.	0.0053	0.0010	0.0023	0	0.0055	0.0081	0.0139	0.0008	5.82e-05	9	154602	rs140408648	0.0038	0.0072	0.0040	0.0037	0.0080	0.0038	0.0037	0.0062	0.0055	0.0008	0.0015	0.0010	0	0.0019	0.0080	0.0046	0.0027	0.0004	0.0020	0.0045	0.0022	0.0018	0.0030	0.0018	0.0018	0.0027	0.0025	0.0009	0	0.0030	0	0	0.0013	0	0.0030	0.0024	0	0.173	0.22573	T	0.374	0.16280	T	0.976	0.58310	D	0.559	0.49531	P	0.000215	0.47681	D	0.140344	0.999999	0.81001	D	.	.	.	-1.83	0.84122	D	-2.26	0.50502	N	0.292	0.33030	-0.4410	0.70697	T	0.377	0.73445	T	10	0.01510039	0.00317	T	.	.	.	0.441	0.74447	.	.	0.866495554984	0.86519	0.40713664030771324	0.40629	1.31428007276	0.83300	0.441312164068	0.30756	T	0.008088	0.07445	T	0.0907628	0.63276	D	-0.107402	0.62818	T	0.0726806938428825	0.09022	T	0.551745	0.19033	T	0.1286578	0.30073	0.11022895	0.26577	0.1286578	0.30073	0.11022895	0.26576	-5.986	0.46163	T	.	.	0.137	0.29833	B	.;.	.;.	3.064739	0.41174	21.3	0.99018279218994965	0.50527	0.96645	0.70187	D	AEFDI	0.725150	0.67423	D	0.00559510834449038	0.42109	2.531043	-0.025503857379337	0.38567	2.274031	0.95648498402232	0.28250	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.26	3.04	0.34171	6.703000	0.74456	7.907000	0.73837	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.022000	0.11911	0.75:0.0:0.0871:0.1629	4.953	0.13375	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010778	0.000000	0.015068	0.017442	0.000000	0.017241	0.000000	0.012195	0.05	402.43	90	chr13	23891902	.	A	C	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1;DP=803;ExcessHet=0;FS=3.217;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.52;MQRankSum=-8.213;QD=1.81;ReadPosRankSum=-0.381;SOR=0.573	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	9	0	1	0
chr13	23894139	23894139	C	A	exonic	C1QTNF9B	.	stopgain	C1QTNF9B:NM_001007537:exon2:c.G229T:p.G77X	.	413	1099	9	1	0	11	0.00497963	1.0000	0.966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0	0.0003	0	0	0.0004	0	0.0014	0.000401	62	154602	rs199574883	0.0003	0.0003	0.0002	0.0003	0.0054	0.0003	0.0003	0.0039	0.0034	6.296e-05	0.0003	0.0043	0	0	0.0054	0.0001	0.0007	0.0009	0.0003	0.0003	0.0003	0.0004	0.0009	0.0003	0.0002	0.0006	0.0004	0	0	0.0009	0.0040	0	0	0	0.0003	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.268	0.30347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289279	0.82096	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	10.528618	0.99777	48	0.98240014632665917	0.39476	0.93039	0.57172	D	AEFI	0.851228	0.76807	D	0.751205478583221	0.82983	7.89964	0.504302395158979	0.68278	5.198229	0.99735590279446	0.35530	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	4.929000	0.63156	7.471000	0.59152	0.426000	0.20854	1.000000	0.71638	1.000000	0.68203	0.015000	0.10482	0.0:1.0:0.0:0.0	14.356	0.66297	293	0.88320	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003052	0.000000	0.002717	0.006098	0.000000	0.008621	0.003067	0.000000	0.05	2005.43	35	chr13	23894139	.	C	A	2005.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.734;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.8;MQRankSum=-6.811;QD=12.94;ReadPosRankSum=0.444;SOR=0.732	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr13	24321155	24321155	T	G	exonic	C1QTNF9	.	nonsynonymous SNV	C1QTNF9:NM_001303138:exon4:c.T389G:p.V130G,C1QTNF9:NM_178540:exon4:c.T389G:p.V130G,C1QTNF9:NM_001303137:exon5:c.T389G:p.V130G	.	499	1017	4	2	0	8	0.00391773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.227364938353	0.0005	.	0.0014	0	0.0004	0	0	0.0028	0.0044	0.0002	0.0003105	48	154602	rs370479349	0.0056	0.0066	0.0058	0.0055	0.0066	0.0055	0.0055	0.0065	0.0064	0.0009	0.0025	0.0020	0	0.0044	0.0061	0.0066	0.0048	0.0007	0.0033	0.0050	0.0039	0.0026	0.0057	0.0030	0.0029	0.0052	0.0050	0.0008	0	0.0039	0.0008	0	0.0016	0	0.0057	0.0042	0	0.214	0.19361	T	0.371	0.16425	T	0.986	0.61523	D	0.855	0.60933	P	0.000215	0.47681	D	0.140344	1	0.81001	D	1.21	0.30464	L	-1.83	0.84122	D	-2.22	0.49846	N	0.179	0.19325	0.152	0.85092	D	0.614	0.86347	D	9	0.01645273	0.00347	T	0.227365	0.88088	D	0.490	0.77720	.	.	0.8504562734	0.84902	0.6417025812950298	0.64105	.	.	0.477800369263	0.35754	T	0.351578	0.71913	T	-0.304361	0.08253	T	-0.203431	0.54320	T	0.0386264717755585	0.03443	T	0.563744	0.19863	T	0.21722893	0.44201	0.22990812	0.48078	0.21722893	0.44201	0.22990812	0.48077	-5.908	0.45503	T	.	.	0.127	0.26886	B	.;.	.;.	3.030924	0.40599	21.2	0.99096206229383477	0.52346	0.95660	0.65617	D	AEFDI	0.735230	0.68110	D	0.277228000887835	0.54996	3.66409	0.182871719156668	0.48908	3.100639	0.97646288506238	0.29727	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	3.96	3.96	0.45097	4.594000	0.60750	4.946000	0.46247	0.485000	0.22221	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.1006:0.0:0.8994	7.404	0.26152	851	0.35303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003307	0.000000	0.004360	0.000000	0.000000	0.019231	0.000000	0.000000	0.05	98.42	11	chr13	24321155	.	T	G	98.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=174;ExcessHet=0;FS=0;InbreedingCoeff=-0.1142;MLEAC=1;MLEAF=0.05;MQ=27;MQRankSum=0;QD=16.4;ReadPosRankSum=-0.431;SOR=0.368	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,28	9	0	1	0
chr13	24456477	24456477	C	A	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon21:c.G2426T:p.R809L	.	432	1085	5	0	0	5	0.00229885	0.0017	0.006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00154128235456	0.0002	0.000199681	0.0003	0.0004	0.0003	0	0	0.0004	0	0.0004	0.0003428	53	154602	rs139822298	0.0008	0.0008	0.0007	0.0008	0.0046	0.0007	0.0007	0.0032	0.0027	0.0005	0.0002	0.0007	0	0	0.0046	0.0009	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0001	0.0009	0	0	0	0.0005	0.0009	0.0004	0.115	0.28520	T	0.046	0.49120	D	0.003	0.11197	B	0.003	0.08700	B	0.222463	0.16106	N	0.648951	0.994125	0.23582	N	1.49	0.37298	L	4.47	0.02084	T	-3.81	0.71882	D	0.127	0.12055	-0.9454	0.41748	T	0.007	0.02244	T	10	0.028463155	0.00978	T	0.001541	0.02420	T	0.026	0.05648	.	.	0.45783149361	0.45410	0.5423991284808045	0.54164	0.148599470871	0.16762	0.258025318384	0.04658	T	0.23233	0.59887	T	-0.58978	0.00168	T	-0.660488	0.08233	T	0.0310619543623309	0.02156	T	0.548145	0.18826	T	0.09118615	0.21358	0.11336637	0.27359	0.09118615	0.21358	0.11336637	0.27358	-6.523	0.50464	T	.	.	0.206	0.43227	B	.	.	1.764122	0.22436	15.62	0.98906901200258734	0.48290	0.44083	0.27240	N	AEFDBI	0.053251	0.09578	N	-0.470212845328771	0.23060	1.235734	-0.395247637910924	0.25138	1.380649	0.00407912434150938	0.10406	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	2.11	0.26299	0.513000	0.22476	-0.959000	0.06786	-0.210000	0.08370	0.892000	0.31242	0.000000	0.08366	0.504000	0.29107	0.4169:0.424:0.0:0.1592	3.475	0.07146	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	536.43	35	chr13	24456477	.	C	A	536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.236;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-1.012;SOR=0.843	GT:AD:DP:GQ:PL	0/0:41,0:41:90:0,90,1350	9	0	1	0
chr13	24710529	24710529	C	A	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon20:c.C2851A:p.Q951K,ATP12A:NM_001676:exon20:c.C2833A:p.Q945K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954	0.363974935726	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902548316	1.436e-05	1.436e-05	1.225e-05	1.65e-05	1.888e-05	9.23e-06	7.84e-06	1.213e-05	1.03e-05	0	0	0	0	0	0	1.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.55341	D	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	-4.3	0.97172	D	-3.02	0.62630	D	0.909	0.92200	1.101	0.99682	D	0.958	0.98646	D	10	0.96117103	0.95529	D	0.363975	0.92582	D	0.954	0.99189	0.797	0.91729	0.971552391733	0.97124	0.9174644892531261	0.91721	0.938946206287	0.72141	0.729568123817	0.71443	T	0.952256	0.99321	D	0.52113	0.94920	D	0.510791	0.94845	D	0.9893639087677	0.79605	D	0.989979	0.96879	D	0.9580638	0.97085	0.9139091	0.95966	0.9580638	0.97085	0.9139091	0.95967	-12.052	0.85103	D	.	.	0.835	0.78984	P	.;.	.;.	4.418953	0.68430	25.2	0.99658140869455347	0.77757	0.98906	0.88443	D	AEFBI	0.893916	0.83236	D	0.946095499185013	0.93829	12.30552	0.887158437164103	0.94988	13.21297	0.999999968519351	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.813000	0.84661	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	16.891	0.85954	975	0.05339	.;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001036	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	777.43	33	chr13	24710529	.	C	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.982;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.588;SOR=0.683	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1015	9	0	1	0
chr13	24764229	24764229	G	C	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon1:c.G26C:p.G9A,RNF17:NM_031277:exon1:c.G26C:p.G9A	.	407	1113	2	0	0	2	0.000897666	.	.	.	2759592	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0114801893307	7.7e-05	.	2.513e-05	0	0	0	0	4.572e-05	0	0	2.59e-05	4	154602	rs375993919	0.0001	0.0001	0.0001	0.0001	0.0003	9.33e-05	8.791e-05	0.0001	0.0001	2.998e-05	0	0	0	0	0.0003	0.0001	0.0002	1.168e-05	3.284e-05	3.283e-05	5.137e-05	1.344e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	2.411e-05	0	0	0	0	0	0	5.879e-05	0	0	0.183	0.26965	T	0.993	0.02610	T	0.034	0.20480	B	0.023	0.19966	B	0.013364	0.01362	N	3.053280	1	0.08975	N	0.345	0.11182	N	3.38	0.19311	T	-0.5	0.26200	N	0.122	0.15609	-1.0785	0.07641	T	0.030	0.12892	T	10	0.08125058	0.13280	T	0.01148	0.29147	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.17038840348899625	0.16958	0.236179968621	0.26158	0.252925485373	0.04082	T	0.023285	0.17802	T	-0.514468	0.00473	T	-0.785092	0.02303	T	0.0922842638426544	0.11485	T	0.40366	0.10339	T	0.035578765	0.04215	0.031106168	0.01655	0.035578765	0.04214	0.031106168	0.01654	-3.287	0.13570	T	.	.	0.080	0.13315	B	.;.	.;.	-1.190733	0.00540	0.013	0.38041213467852458	0.02542	0.01541	0.05062	N	AEFBI	0.027587	0.02282	N	-1.13464792246159	0.06037	0.2768158	-1.18144199431207	0.06219	0.2987076	3.64675424279313E-4	0.06707	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.55	0.404	0.15574	-0.529000	0.06273	-0.473000	0.08966	-1.042000	0.01662	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.226:0.1782:0.413:0.1828	0.910	0.01211	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	701.43	34	chr13	24764229	.	G	C	701.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=1.95;SOR=0.781	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1005	9	0	1	0
chr13	24842079	24842079	G	A	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon19:c.G2521A:p.D841N,RNF17:NM_031277:exon19:c.G2521A:p.D841N	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0110795595748	.	0.000798722	0.0005	0	0	0	0	1.501e-05	0	0.0033	0.0003881	60	154602	rs576855995	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0031	0.0030	0	0	0	0	0	0.0002	4.503e-06	0.0003	0.0034	9.196e-05	9.188e-05	1.285e-05	0.0002	0.0029	5.526e-05	4.364e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.102	0.31235	T	0.125	0.35330	T	0.238	0.30817	B	0.041	0.23986	B	0.000686	0.42383	D	0.160974	0.690654	0.33323	D	2.255	0.64187	M	1.55	0.29866	T	-2.26	0.62343	N	0.144	0.14480	-1.0882	0.05839	T	0.043	0.18576	T	10	0.008404076	0.00191	T	0.01108	0.28332	T	0.043	0.11576	0.466	0.53729	0.0934897674506	0.08844	0.2894132170477805	0.28854	0.249861181399	0.27563	0.466215312481	0.34162	T	0.368824	0.73364	T	-0.617194	0.00114	T	-0.661754	0.08148	T	0.092695738938564	0.11533	T	0.621038	0.23867	T	0.052309424	0.09738	0.067128144	0.13846	0.052309424	0.09738	0.067128144	0.13845	-3.982	0.23533	T	.	.	0.096	0.15564	B	.;.	.;.	2.448746	0.31530	18.77	0.99494005160949905	0.67630	0.69828	0.34343	D	AEFI	0.120871	0.23525	N	-0.24887484763706	0.31149	1.743697	-0.156140377428503	0.33174	1.894836	0.00540696336563385	0.10928	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.29	3.43	0.38372	2.235000	0.42690	5.350000	0.48370	-0.164000	0.11507	0.998000	0.41325	1.000000	0.68203	0.334000	0.25294	0.0869:0.1585:0.7545:0.0	8.169	0.30404	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	608.43	44	chr13	24842079	.	G	A	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.76;ReadPosRankSum=-0.131;SOR=0.73	GT:AD:DP:GQ:PL	0/1:58,32:90:99:620,0,1275	9	0	1	0
chr13	25169861	25169861	C	A	exonic	AMER2	.	nonsynonymous SNV	AMER2:NM_152704:exon1:c.G1759T:p.V587L,AMER2:NM_199138:exon3:c.G1402T:p.V468L	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00471475239024	.	0.000199681	0.0003	0	0	0	0	0	0	0.0024	0.0002717	42	154602	rs535170330	0.0001	0.0001	8.44e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	0	0	0	0	0	0	0	0.0001	0.0024	9.851e-05	9.843e-05	3.855e-05	0.0002	0.0031	6.003e-05	4.877e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.363	0.12754	T	0.358	0.17064	T	0.575	0.40170	P	0.188	0.40541	B	0.017590	0.27685	N	0.366686	0.70112	0.33422	D	1.535	0.38868	L	2.38	0.15843	T	-0.73	0.24898	N	0.136	0.23884	-1.0419	0.16741	T	0.043	0.18410	T	10	0.010994226	0.00242	T	0.004715	0.11722	T	0.043	0.11576	0.43	0.47843	0.0482279557977	0.04254	0.1284960215343725	0.12774	.	.	0.598546624184	0.52699	T	0.004669	0.04082	T	-0.549512	0.00294	T	-0.567661	0.15665	T	0.137325971830851	0.16042	T	0.779322	0.42574	T	0.16446249	0.36655	0.108271934	0.26077	0.16446249	0.36654	0.108271934	0.26077	-3.069	0.12863	T	.	.	0.252	0.48664	B	.;.	.;.	3.277140	0.44887	22.0	0.98342894563327343	0.40457	0.87637	0.47242	D	AEFDBI	0.206097	0.33239	N	0.0716830396064926	0.45146	2.77602	0.168977840630084	0.48157	3.035418	0.999994933177209	0.74766	0.582742	0.33608	0	0.59043	0.45803	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.84	5.84	0.93373	0.963000	0.28890	7.518000	0.59719	0.599000	0.40250	0.359000	0.25834	1.000000	0.68203	0.914000	0.44937	0.0:0.8554:0.1446:0.0	14.693	0.68710	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1894.43	36	chr13	25169861	.	C	A	1894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.273;DP=482;ExcessHet=0;FS=3.513;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=-0.669;SOR=0.65	GT:AD:DP:GQ:PL	0/1:90,82:172:99:1906,0,2168	9	0	1	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V	.	430	1077	14	1	0	16	0.00737327	.	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	402.43	34	chr13	28322931	.	T	C	402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.124;DP=288;ExcessHet=0;FS=1.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-1.645;SOR=1.112	GT:AD:DP:GQ:PL	0/0:24,0:24:54:0,54,810	9	0	1	0
chr13	29024705	29024705	G	A	exonic	MTUS2	.	nonsynonymous SNV	MTUS2:NM_001384606:exon2:c.G7A:p.V3I,MTUS2:NM_001033602:exon3:c.G7A:p.V3I,MTUS2:NM_001366650:exon3:c.G7A:p.V3I,MTUS2:NM_001366651:exon3:c.G7A:p.V3I,MTUS2:NM_001384605:exon3:c.G7A:p.V3I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	.	0.00798722	0.0028	0	8.649e-05	0.0357	0	7.571e-05	0.0034	0.0009	0.0025873	400	154602	rs117237504	0.0012	0.0012	0.0012	0.0012	0.0348	0.0011	0.0011	0.0333	0.0327	2.987e-05	8.945e-05	0	0.0348	0	0.0002	7.016e-05	0.0027	0.0012	0.0015	0.0015	0.0013	0.0018	0.0394	0.0013	0.0013	0.0350	0.0333	0	0	0.0005	0	0.0394	0	0	8.82e-05	0.0028	0.0010	.	.	.	0.101	0.38596	T	.	.	.	.	.	.	0.252069	0.15488	N	0.571572	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.029	0.00666	-1.0302	0.20390	T	0.007	0.02399	T	9	0.0034261048	0.00060	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	.	.	.	.	0.270558893681	0.06214	T	.	.	.	-0.716051	0.00029	T	-0.774174	0.02633	T	0.0123406700196948	0.00201	T	0.508249	0.16142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.282371	0.02696	0.351	0.90926310149992662	0.20175	0.10803	0.16203	N	AEFBI	0.040920	0.06153	N	-0.797943398593655	0.13363	0.6577885	-0.82392344567693	0.13916	0.7244619	4.64513304179687E-4	0.07066	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.84	1.84	0.24348	0.089000	0.14843	-2.038000	0.04307	-1.454000	0.01091	0.012000	0.18695	0.000000	0.08366	0.121000	0.19209	0.4127:0.0:0.5873:0.0	8.388	0.31673	844	0.36711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	601.43	34	chr13	29024705	.	G	A	601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.44;SOR=0.813	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	9	0	1	0
chr13	29024778	29024778	A	G	exonic	MTUS2	.	nonsynonymous SNV	MTUS2:NM_001384606:exon2:c.A80G:p.E27G,MTUS2:NM_001033602:exon3:c.A80G:p.E27G,MTUS2:NM_001366650:exon3:c.A80G:p.E27G,MTUS2:NM_001366651:exon3:c.A80G:p.E27G,MTUS2:NM_001384605:exon3:c.A80G:p.E27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0148036944229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	0.001028	0.40562	N	0.105878	0.824755	0.34829	D	.	.	.	.	.	.	.	.	.	0.198	0.21839	-0.9881	0.33077	T	0.139	0.45791	T	9	0.19592467	0.35464	T	0.014804	0.35150	T	.	.	.	.	0.192905019026	0.18896	.	.	.	.	0.366098850965	0.20271	T	.	.	.	-0.00414676	0.51081	T	-0.243733	0.50432	T	0.949207365512848	0.63062	D	0.692631	0.30204	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.054026	0.40991	21.3	0.99766286777257285	0.85500	0.96485	0.69373	D	AEFBI	0.475333	0.51921	N	0.332922874543639	0.57846	3.953624	0.276625233724147	0.54176	3.583555	0.983750713254557	0.30609	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	5.011000	0.63768	6.718000	0.56421	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	1.0:0.0:0.0:0.0	15.395	0.74501	844	0.36711	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1047.43	34	chr13	29024778	.	A	G	1047.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.344;DP=390;ExcessHet=0;FS=0.857;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.165;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1230	9	0	1	0
chr13	29517278	29517278	C	T	exonic	SLC7A1	.	nonsynonymous SNV	SLC7A1:NM_003045:exon11:c.G1543A:p.V515M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0646775800766	.	0.000599042	0.0001	0	0	0	0	1.623e-05	0	0.0008	0.0001035	16	154602	rs535160170	6.229e-05	6.293e-05	4.086e-05	8.395e-05	0.0007	5.165e-05	4.784e-05	0.0005	0.0005	0	2.244e-05	0	2.519e-05	0	0.0005	2.159e-05	9.94e-05	0.0007	8.534e-05	8.53e-05	8.991e-05	8.056e-05	0.0010	4.953e-05	3.959e-05	0.0004	0.0003	4.81e-05	0	6.533e-05	0	0.0002	0	0	5.88e-05	0	0.0010	0.141	0.25560	T	0.258	0.23164	T	0.963	0.55692	D	0.411	0.44827	B	0.002248	0.36929	N	0.256691	0.998367	0.44821	D	2.415	0.69758	M	-2.18	0.86722	D	-0.92	0.24676	N	0.315	0.35514	0.184	0.85647	D	0.576	0.84685	D	10	0.07090515	0.10381	T	0.064678	0.69351	D	0.407	0.71946	0.58	0.70604	0.58666542446	0.58340	0.5472391788794856	0.54649	1.05635220189	0.76320	0.353038221598	0.18369	T	0.390191	0.75043	T	-0.171301	0.25039	T	-0.126355	0.61278	T	0.144627996881417	0.16668	T	0.816518	0.47234	T	0.08056412	0.18467	0.073938034	0.16121	0.08056412	0.18467	0.073938034	0.16121	-5.8	0.44574	T	.	.	0.321	0.54594	B	.	.	3.645700	0.51717	23.1	0.99062977187826518	0.51528	0.90957	0.52583	D	AEFBCI	0.342850	0.43886	N	0.237725652127214	0.53034	3.474333	0.196665182317159	0.49664	3.166881	0.999999999093355	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	2.604000	0.45938	5.948000	0.51598	0.594000	0.32500	0.161000	0.23811	1.000000	0.68203	0.953000	0.50222	0.0:0.8528:0.1472:0.0	14.507	0.67344	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1120.43	35	chr13	29517278	.	C	T	1120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.08;DP=406;ExcessHet=0;FS=3.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.465;SOR=1.14	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	9	0	1	0
chr13	30461464	30461464	T	C	exonic	HMGB1	.	nonsynonymous SNV	HMGB1:NM_001313892:exon5:c.A541G:p.S181G,HMGB1:NM_001313893:exon5:c.A541G:p.S181G,HMGB1:NM_001370340:exon5:c.A541G:p.S181G,HMGB1:NM_001370341:exon5:c.A541G:p.S181G,HMGB1:NM_002128:exon5:c.A541G:p.S181G	.	501	1009	11	1	0	13	0.00640079	.	.	.	725447	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.122	0.0172178411702	0.0004	0.00199681	0.0028	0.0004	0.0095	0	0	0.0030	0.0041	0.0032	0.0010608	164	154602	rs201813276	0.0020	0.0019	0.0019	0.0020	0.0052	0.0019	0.0019	0.0035	0.0030	0.0003	0.0025	0	2.652e-05	0.0003	0.0052	0.0021	0.0018	0.0025	0.0021	0.0021	0.0021	0.0021	0.0064	0.0019	0.0018	0.0054	0.0050	0.0004	0.0022	0.0064	0	0	0	0	0.0026	0.0024	0.0025	0.008	0.58626	D	0.106	0.37872	T	0.015	0.17086	B	0.037	0.23121	B	0.000008	0.62929	D	0.000000	1	0.81001	D	2.415	0.69758	M	-0.27	0.67367	T	-1.93	0.44852	N	0.289	0.32701	-0.8050	0.54849	T	0.193	0.54637	T	10	0.0064373314	0.00146	T	0.017218	0.38829	T	0.122	0.33800	.	.	0.508253470527	0.50464	0.047477941075010466	0.04690	4.45352357014E-4	0.00045	0.697665333748	0.66807	T	0.186568	0.53990	T	-0.29875	0.08778	T	-0.205275	0.54146	T	0.022525696088737	0.00968	T	0.755524	0.37862	T	0.17734392	0.38695	0.16592257	0.38359	0.17734392	0.38694	0.16592257	0.38358	-3.14	0.11761	T	.	.	0.119	0.24464	B	.;.;.;.	.;.;.;.	3.962895	0.58130	23.9	0.98068776547292524	0.38007	0.82276	0.41528	D	AEBCI	0.301236	0.40981	N	-0.00672478273009303	0.41550	2.487318	0.179544986595508	0.48727	3.084801	0.999999599861377	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	2.873000	0.48173	5.044000	0.46937	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0757:0.0:0.9243	10.090	0.41614	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005118	0.005263	0.006831	0.000000	0.050000	0.008621	0.000000	0.003846	0.05	330.43	36	chr13	30461464	.	T	C	330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.563;DP=254;ExcessHet=0;FS=4.419;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=50.82;MQRankSum=-1.221;QD=15.73;ReadPosRankSum=-1.798;SOR=2.03	GT:AD:DP:GQ:PL	0/0:13,0:13:33:0,33,495	9	0	1	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	7534.18	33	chr13	30713841	.	G	GGT	7534.18	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.025;DP=519;ExcessHet=0.0135;FS=1.169;InbreedingCoeff=0.5238;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=30.14;ReadPosRankSum=0.709;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,2:64:99:.:.:994,851,2197:.	9	0	1	0
chr13	32339553	32339553	C	T	exonic	BRCA2	.	nonsynonymous SNV	BRCA2:NM_000059:exon11:c.C5198T:p.S1733F	Fanconi anemia, complementation group D1, Autosomal recessive;Wilms tumor, Autosomal dominant, Somatic mutation	4	1516	2	0	0	2	0.000659196	.	.	YES	46506	BRCA2-related_cancer_predisposition|Fanconi_anemia_complementation_group_D1|Breast-ovarian_cancer,_familial,_susceptibility_to,_2|Familial_cancer_of_breast|Malignant_tumor_of_breast|not_specified|Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_provided|BRCA2-related_disorder|Glioma_susceptibility_3|Medulloblastoma|Pancreatic_cancer,_susceptibility_to,_2|Prostate_cancer|Wilms_tumor_1|Hereditary_breast_ovarian_cancer_syndrome	MONDO:MONDO:0700269,MedGen:CN377758|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Orphanet:319462|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555,Orphanet:145|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0007254,MedGen:C0006142|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MedGen:C3661900|MedGen:CN239275|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029,Orphanet:182067,Orphanet:360|Human_Phenotype_Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255,Orphanet:616|MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347,Orphanet:1333|Human_Phenotype_Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,Orphanet:1331|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.159	0.0353782625712	0.0011	0.00179712	0.0005	0.0027	0	0	0	9.083e-05	0	0.0014	0.0004398	68	154602	rs55639415	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0034	0.0032	0.0039	9.109e-05	0.0016	0	0	0.0009	1.624e-05	0.0005	0.0013	0.0007	0.0007	0.0006	0.0008	0.0021	0.0006	0.0005	0.0018	0.0016	0.0021	0	6.543e-05	0.0026	0	0	0	1.471e-05	0.0005	0.0010	0.024	0.47745	D	0.022	0.57587	D	.	.	.	.	.	.	0.187354	0.16940	N	0.569164	1	0.08975	N	.	.	.	5.49	0.00930	T	-4.48	0.77965	D	0.509	0.54059	-0.9454	0.41748	T	0.003	0.00994	T	10	0.011440545	0.00250	T	0.035378	0.56304	D	0.159	0.41286	.	.	0.853585747351	0.85217	0.2286752432852918	0.22782	0.0291235366317	0.02998	0.301238834858	0.10586	T	.	.	.	-0.341536	0.05281	T	-0.268917	0.47930	T	0.00688320541989984	0.00078	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.32827	B	.;.	.;.	2.062811	0.26232	17.04	0.98291295127214995	0.39954	0.06867	0.12892	N	AEFBI	0.061044	0.11644	N	-0.550432485399389	0.20470	1.07932	-0.607327656014665	0.19304	1.035134	0.877128552663188	0.25539	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.62	2.52	0.29514	0.540000	0.22900	0.851000	0.22138	0.599000	0.40250	0.001000	0.13787	0.381000	0.24616	0.018000	0.11154	0.1181:0.4916:0.3007:0.0896	4.745	0.12408	748	0.52143	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002016	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2449.43	123	chr13	32339553	.	C	T	2449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.05;DP=908;ExcessHet=0;FS=7.074;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.16;SOR=0.676	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	9	0	1	0
chr13	33060769	33060769	G	A	exonic	KL	.	nonsynonymous SNV	KL:NM_004795:exon4:c.G1690A:p.V564M	Tumoral calcinosis, hyperphosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1362031	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00480746888493	.	.	3.295e-05	0	0	0	0	2.997e-05	0	0.0001	2.59e-05	4	154602	rs766985910	5.472e-06	5.472e-06	1.361e-06	9.625e-06	3.478e-05	2.35e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	3.597e-06	1.656e-05	3.478e-05	1.314e-05	1.313e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.221	0.18889	T	0.257	0.23231	T	0.01	0.15535	B	0.027	0.21085	B	0.698174	0.10116	N	0.877606	1	0.08975	N	3.04	0.86592	M	1.46	0.32238	T	-0.77	0.21429	N	0.109	0.09490	-0.9727	0.36627	T	0.074	0.29865	T	10	0.07883197	0.12610	T	0.004807	0.12035	T	0.049	0.13647	0.484	0.56621	0.509053020717	0.50544	0.5139850776519714	0.51320	0.126778985042	0.14284	0.36135071516	0.19583	T	0.086102	0.37650	T	-0.349239	0.04775	T	-0.557906	0.16575	T	0.0865864604426829	0.10807	T	0.725427	0.33942	T	0.09201672	0.21576	0.09818602	0.23400	0.09201672	0.21576	0.09818602	0.23399	-6.818	0.52693	T	0.142693373029224	0.16158	0.088	0.11510	B	.	.	1.080287	0.14631	11.19	0.98742245129115291	0.45527	0.11782	0.16858	N	AEFDBI	0.116423	0.22849	N	-0.630676829400182	0.18026	0.9326459	-0.637540469184433	0.18532	0.990383	0.999257434616117	0.38906	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.44	2.71	0.31092	0.189000	0.16845	2.331000	0.32195	0.672000	0.70159	0.000000	0.06391	0.995000	0.32472	0.876000	0.41813	0.1432:0.2431:0.4723:0.1413	3.054	0.05806	546	0.72524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2459.43	34	chr13	33060769	.	G	A	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.423;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.298;SOR=0.674	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1252	9	0	1	0
chr13	38856158	38856158	G	A	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon12:c.G6958A:p.V2320M	Fraser syndrome, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	1965760	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00859311159962	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1268483221	2.056e-05	2.394e-05	2.046e-05	2.066e-05	0.0002	1.459e-05	1.266e-05	1.546e-05	1.307e-05	0	0	3.834e-05	0	0	0.0002	2.253e-05	1.659e-05	2.32e-05	2.63e-05	3.284e-05	3.855e-05	1.347e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.413e-05	0	0	0	0	0	0	4.411e-05	0	0	0.367	0.11659	T	0.111	0.37173	T	.	.	.	.	.	.	0.542004	0.11526	N	0.812008	1	0.08975	N	.	.	.	1.56	0.29602	T	-0.45	0.14782	N	0.042	0.01498	-1.0455	0.15680	T	0.039	0.16806	T	10	0.04443863	0.03401	T	0.008593	0.22705	T	0.007	0.00512	0.37	0.38013	0.12205267543	0.11705	0.096399513463844	0.09571	0.273909488683	0.29889	0.190838068724	0.00240	T	.	.	.	-0.361805	0.04028	T	-0.757484	0.03203	T	0.0234837524857614	0.01081	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05231	B	.	.	-0.776651	0.01153	0.054	0.72955972458776031	0.10155	0.01782	0.05581	N	AEFI	0.048812	0.08368	N	-1.44660929531025	0.02243	0.09886103	-1.53700363083537	0.02067	0.09450312	0.993460604108353	0.33226	0.706298	0.61202	0	0.624306	0.53593	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.98	-7.13	0.01379	-0.853000	0.04412	-3.256000	0.02930	-0.774000	0.03397	0.000000	0.06391	0.000000	0.08366	0.546000	0.30079	0.2033:0.0954:0.4579:0.2434	4.513	0.11327	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	421.43	36	chr13	38856158	.	G	A	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=372;ExcessHet=0;FS=1.119;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-1.827;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,108,1058:.	9	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	829.52	139	chr13	38859428	.	G	C	829.52	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-3.772;DP=1447;ExcessHet=4.5998;FS=263.084;InbreedingCoeff=-0.5678;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=1.69;SOR=11.973	GT:AD:DP:GQ:PL	0/1:130,52:189:99:110,0,2274	2	0	6	2
chr13	38880701	38880701	-	G	exonic	FREM2	.	frameshift insertion	FREM2:NM_207361:exon24:c.9425dupG:p.K3144Efs*11	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.039e-05	2.3e-07	9e-08	8.35e-06	3.12e-06	0	0	0	5.039e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	896.39	36	chr13	38880701	.	A	AG	896.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.45;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.306;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1118	9	0	1	0
chr13	39013865	39013865	C	T	exonic	PROSER1	.	nonsynonymous SNV	PROSER1:NM_170719:exon10:c.G1321A:p.G441S,PROSER1:NM_025138:exon11:c.G1387A:p.G463S	.	427	1094	1	0	0	1	0.00045683	.	.	.	2756693	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00481053717881	.	.	4.943e-05	0	0	0	0.0002	5.994e-05	0	6.057e-05	4.53e-05	7	154602	rs201650265	4.036e-05	4.036e-05	4.492e-05	3.575e-05	0.0002	3.178e-05	2.91e-05	3.459e-05	3.121e-05	2.987e-05	0	0	0	7.488e-05	0.0002	4.496e-05	0	3.478e-05	3.944e-05	3.94e-05	7.711e-05	0	7.352e-05	1.716e-05	1.13e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.352e-05	0.0005	0	0.225	0.18626	T	0.557	0.09205	T	0.005	0.12996	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.45	0.32482	T	-1.02	0.26843	N	0.075	0.06190	-1.0009	0.29660	T	0.043	0.18368	T	8	0.049936205	0.04653	T	0.004811	0.12035	T	0.020	0.03691	0.179	0.08626	0.043077524339	0.03247	0.20378133051493505	0.20295	0.0686704794081	0.07693	0.37084659934	0.20954	T	0.008081	0.07436	T	-0.455795	0.01043	T	-0.710966	0.05245	T	0.0146571164142087	0.00303	T	0.751525	0.37371	T	0.045726195	0.07535	0.06488887	0.13071	0.045726195	0.07534	0.06488887	0.13070	-2.362	0.04976	T	.	.	0.069	0.05890	B	.;.	.;.	0.526638	0.08954	5.735	0.52349106474985685	0.04731	0.07557	0.13570	N	AEFDBCI	0.038018	0.05318	N	-0.952093723965607	0.09646	0.4574127	-0.960484065361367	0.10681	0.5394727	0.968282079099044	0.29041	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	1.91	0.24841	0.020000	0.13359	0.988000	0.23172	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.018000	0.11154	0.0:0.5281:0.0:0.4719	8.010	0.29508	872	0.31118	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1959.43	153	chr13	39013865	.	C	T	1959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=482;ExcessHet=0;FS=2.057;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=1.01;SOR=0.514	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr13	41615006	41615006	C	T	exonic	VWA8	.	nonsynonymous SNV	VWA8:NM_015058:exon38:c.G4690A:p.V1564M	.	437	1083	2	0	0	2	0.000922509	.	.	YES	2840065	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.155	0.00576357475987	0.0071	0.00219649	0.0045	0.0010	0.0029	0	0.0011	0.0069	0.0044	0.0022	0.0048318	747	154602	rs73464952	0.0068	0.0068	0.0070	0.0067	0.0082	0.0067	0.0067	0.0081	0.0080	0.0011	0.0031	0.0014	0	0.0020	0.0015	0.0082	0.0049	0.0027	0.0046	0.0046	0.0047	0.0044	0.0076	0.0043	0.0042	0.0071	0.0069	0.0015	0.0011	0.0042	0.0017	0	0.0016	0	0.0076	0.0043	0.0033	0.015	0.52492	D	0.023	0.57104	D	0.996	0.68779	D	0.781	0.57337	P	0.000068	0.52346	D	0.125624	0.999987	0.54805	D	2.34	0.67151	M	2.64	0.12780	T	-2.34	0.51811	N	0.691	0.69649	-1.1963	0.00179	T	0.061	0.25455	T	10	0.010855824	0.00240	T	0.005764	0.14952	T	0.155	0.40530	.	.	0.185906805712	0.18197	0.6572900152040483	0.65666	0.359713744873	0.37668	0.709657132626	0.68544	T	0.124133	0.44896	T	-0.345577	0.05011	T	-0.258143	0.49009	T	0.0233892836265901	0.01070	T	0.963204	0.86318	D	0.10726589	0.25365	0.13922314	0.33225	0.10726589	0.25364	0.13922314	0.33224	-9.516	0.70958	D	.	.	0.394	0.59251	A	.	.	3.597241	0.50793	23.0	0.99915515378118347	0.98379	0.87463	0.47011	D	AEFDBCIJ	0.483597	0.52397	N	0.685561093088054	0.78685	6.921935	0.690292568686323	0.81640	7.574524	0.999999999999719	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.654926	0.60358	0	.	.	6.08	6.08	0.98982	3.858000	0.55690	1.824000	0.29063	0.599000	0.40250	0.998000	0.41325	0.934000	0.28616	0.852000	0.40310	0.0:1.0:0.0:0.0	18.436	0.90595	674	0.60593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	1080.43	85	chr13	41615006	.	C	T	1080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=399;ExcessHet=0;FS=5.566;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.466;SOR=0.398	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1235	9	0	1	0
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	115.16	33	chr13	42303096	.	G	C	115.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.45;DP=837;ExcessHet=0.2348;FS=139.06;InbreedingCoeff=-0.1121;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.74;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:85,15:100:17:0|1:42303096_G_C:0,17,3217:42303096	8	0	2	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	1521.44	33	chr13	42303097	.	G	C	1521.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.533;DP=1112;ExcessHet=7.0302;FS=278.586;InbreedingCoeff=-0.5475;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.958;SOR=11.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:85,15:100:17:0|1:42303096_G_C:0,17,3217:42303096	3	0	7	0
chr13	44574591	44574591	A	T	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_001243799:exon1:c.T1484A:p.V495E,TSC22D1:NM_183422:exon1:c.T1484A:p.V495E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0110378029837	.	.	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs753469066	3.078e-05	3.078e-05	2.042e-05	4.125e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	0	0	0	0	0	0.0002	0	3.312e-05	0.0005	6.579e-06	6.568e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.78490	D	0.053	0.53788	T	0.622	0.39964	P	0.247	0.38902	B	0.011132	0.29649	N	0.233607	0.92907	0.36915	D	1.7	0.43825	L	1.42	0.33189	T	-1.41	0.48850	N	0.568	0.61256	-1.0742	0.08514	T	0.051	0.21572	T	10	0.1138401	0.21399	T	0.011038	0.28250	T	0.146	0.38789	0.273	0.22369	0.334885890373	0.33091	0.30169689716284465	0.30082	0.169148134631	0.19067	0.414012819529	0.27012	T	0.509508	0.82631	D	-0.264527	0.12374	T	-0.253589	0.49462	T	0.163362591042196	0.18117	T	0.615438	0.30359	T	0.5203244	0.68278	0.5431106	0.73592	0.5203244	0.68279	0.5431106	0.73592	-6.111	0.51810	T	.	.	0.265	0.49912	B	.;.	.;.	2.343803	0.30040	18.31	0.98085899632385964	0.38149	0.53919	0.29488	D	AEFDBCIJ	0.310572	0.41655	N	-0.344178553994518	0.27487	1.508428	-0.318649761666232	0.27497	1.526171	0.99999998844108	0.74766	0.722319	0.85440	0	0.0	0.00010	3	0.639134	0.45391	0	0.735409	0.98432	0	.	.	4.57	3.39	0.37919	0.437000	0.21261	1.152000	0.24488	0.691000	0.84096	0.017000	0.19353	0.019000	0.20708	0.856000	0.40543	0.9044:0.0:0.0956:0.0	7.978	0.29326	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	964.43	34	chr13	44574591	.	A	T	964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=521;ExcessHet=0;FS=1.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.704;SOR=0.78	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,110,1150	9	0	1	0
chr13	44575896	44575896	G	A	exonic	TSC22D1	.	nonsynonymous SNV	TSC22D1:NM_001243799:exon1:c.C179T:p.P60L,TSC22D1:NM_183422:exon1:c.C179T:p.P60L	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0415549715379	0.0002	.	0.0002	0.0002	0.0006	0	0	0.0002	0	0	0.0001746	27	154602	rs200325152	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0004	0.0004	0.0011	0	0	0.0026	0.0001	0.0004	1.159e-05	0.0002	0.0002	7.708e-05	0.0002	0.0002	0.0001	9.24e-05	7.907e-05	5.993e-05	9.653e-05	0	0	0.0017	0	0	0.0063	0.0001	0.0005	0.0002	0.005	0.72154	D	0.136	0.92824	T	0.999	0.77913	D	0.96	0.70309	D	0.000142	0.49130	D	0.000000	0.999994	0.58761	D	1.65	0.42232	L	1.13	0.38556	T	-2.12	0.85027	N	0.581	0.62611	-0.8066	0.54754	T	0.150	0.47699	T	10	0.07013464	0.10160	T	0.041555	0.59992	D	0.242	0.54781	.	.	0.263709349026	0.25991	0.4023990188633702	0.40155	0.427851054671	0.43120	0.58223938942	0.50400	T	0.22995	0.59589	T	-0.241358	0.15175	T	-0.262504	0.48573	T	0.268660604953766	0.23689	T	0.90211	0.65873	D	0.13754065	0.31842	0.18460234	0.41523	0.13754065	0.31842	0.18460234	0.41522	-4.629	0.32534	T	.	.	0.089	0.12037	B	.;.;.	.;.;.	4.879036	0.79994	27.2	0.9985494504719058	0.93368	0.86209	0.45446	D	ALL	0.771633	0.70620	D	0.458963673645425	0.64713	4.732169	0.431717019494809	0.63550	4.591152	0.999999999999817	0.74766	0.65757	0.49021	0	0.706955	0.78570	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.67	3.67	0.41236	6.839000	0.75157	9.577000	0.81021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	0.0:0.0:1.0:0.0	15.182	0.72653	919	0.19497	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005550	0.010204	0.008152	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	1414.43	34	chr13	44575896	.	G	A	1414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.363;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-0.789;SOR=0.656	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr13	45524994	45524994	A	G	exonic	COG3	.	nonsynonymous SNV	COG3:NM_031431:exon20:c.A2173G:p.M725V	.	.	.	.	.	.	.	.	.	.	.	3306897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0183612320803	.	0.000199681	5.032e-05	0	0	0.0006	0	1.523e-05	0	0	5.17e-05	8	154602	rs201742099	2.737e-06	2.736e-06	1.362e-06	4.126e-06	7.558e-05	6.4e-07	4.3e-07	2.004e-05	1.055e-05	0	0	0	7.558e-05	0	0	8.994e-07	0	0	3.283e-05	3.281e-05	3.855e-05	2.685e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0002	0	0	0	0	0.0010	0	0	0	0	0	0.327	0.13262	T	0.743	0.04930	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.295	0.32453	L	0.78	0.49358	T	-0.98	0.25986	N	0.277	0.31365	-0.9863	0.33518	T	0.131	0.44208	T	10	0.05516985	0.05988	T	0.018361	0.40397	T	0.238	0.54217	.	.	0.772111025371	0.77002	0.49753498483106784	0.49674	0.271133807911	0.29636	0.595387578011	0.52253	T	0.013298	0.11527	T	-0.0948844	0.37268	T	-0.0176939	0.69181	D	0.207165244060908	0.20804	T	0.863614	0.55989	D	0.22743708	0.45444	0.18118499	0.40966	0.22743708	0.45444	0.18118499	0.40965	-2.806	0.08239	T	.	.	0.091	0.13221	B	.	.	3.507826	0.49109	22.7	0.94824297475206298	0.25597	0.98565	0.84156	D	AEFBI	0.879682	0.80581	D	0.0691744864914683	0.45029	2.76641	0.229189617876962	0.51475	3.329571	0.99999999989434	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	7.352000	0.78655	11.085000	0.85821	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.249	0.65556	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	807.43	46	chr13	45524994	.	A	G	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.504;DP=402;ExcessHet=0;FS=1.884;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.005;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1111	9	0	1	0
chr13	45549921	45549921	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon13:c.A1618G:p.T540A	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0031	0.00159744	0.0054	0.0005	0	0	0	0.0120	0	0.0015	0.0014942	231	154602	rs138019495	0.0046	0.0044	0.0046	0.0045	0.0137	0.0045	0.0044	0.0112	0.0103	0.0007	0.0050	0.0338	0	0.0003	0.0137	0.0044	0.0060	0.0018	0.0032	0.0032	0.0035	0.0029	0.0041	0.0030	0.0029	0.0037	0.0036	0.0007	0	0.0036	0.0288	0	0	0.0102	0.0041	0.0071	0.0010	0.026	0.46910	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997368	0.22689	N	2.365	0.68172	M	2.83	0.10771	T	-2.79	0.59059	D	0.616	0.63204	-1.0875	0.05960	T	0.049	0.21026	T	9	0.008849382	0.00200	T	.	.	.	0.156	0.40720	.	.	0.238705975628	0.23479	0.44365976478026536	0.44283	.	.	0.385409414768	0.23020	T	0.021439	0.16695	T	-0.456514	0.01033	T	-0.427023	0.30274	T	0.030507663835992	0.02067	T	0.439356	0.12115	T	0.22631073	0.45309	0.246806	0.50198	0.22631073	0.45309	0.246806	0.50197	-7.945	0.60694	D	.	.	0.201	0.42506	B	.	.	3.981063	0.58523	24.0	0.99785391619804342	0.87131	0.95332	0.64308	D	AEFBI	0.475758	0.51946	N	0.642509673075055	0.75883	6.385696	0.643250272920954	0.78111	6.810606	0.981287287864448	0.30242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.69	5.69	0.88346	2.942000	0.48711	7.882000	0.72565	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	12.338	0.54406	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014963	0.026596	0.009091	0.030702	0.000000	0.045455	0.000000	0.000000	0.05	679.43	34	chr13	45549921	.	T	C	679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.299;DP=397;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.9;ReadPosRankSum=-2.138;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1377	9	0	1	0
chr13	45580632	45580632	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon6:c.A890G:p.Q297R	.	.	.	.	.	.	.	.	.	.	.	2207172	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.00401159484932	0.0009	0.000399361	0.0002	0.0023	0	0	0	0	0	0	6.47e-05	10	154602	rs368539765	8.146e-05	7.798e-05	8.46e-05	7.824e-05	0.0028	6.894e-05	6.416e-05	0.0023	0.0021	0.0028	8.402e-05	0	0	0	0	1.854e-06	0.0004	0	0.0005	0.0005	0.0004	0.0005	0.0016	0.0004	0.0003	0.0013	0.0011	0.0016	0	0.0003	0	0	0	0	0	0	0	0.302	0.14400	T	0.42	0.14116	T	0.784	0.44396	P	0.235	0.38432	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	3.14	0.07920	T	-0.2	0.10136	N	0.047	0.01911	-0.9738	0.36387	T	0.011	0.03903	T	9	0.0059637427	0.00134	T	0.004012	0.09525	T	0.155	0.40530	.	.	0.0138822411134	0.00435	0.020488889350371554	0.02001	.	.	0.271177917719	0.06295	T	0.007439	0.06846	T	-0.664734	0.00059	T	-0.732859	0.04199	T	0.0212071774772455	0.00822	T	0.317868	0.06361	T	0.073668785	0.16479	0.051992632	0.08479	0.073668785	0.16479	0.051992632	0.08479	-3.798	0.20775	T	.	.	0.086	0.10931	B	.	.	0.208764	0.05926	2.366	0.96551127621945398	0.30225	0.04996	0.10770	N	AEFBI	0.039830	0.05838	N	-0.780094967839551	0.13829	0.6841813	-0.915457684031054	0.11730	0.5993467	2.85296503719265E-4	0.06355	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.02	0.41	0.15605	0.004000	0.13007	-0.643000	0.08067	0.644000	0.52426	0.001000	0.13787	0.000000	0.08366	0.152000	0.20376	0.2232:0.0:0.2314:0.5454	3.669	0.07803	709	0.56835	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	821.43	34	chr13	45580632	.	T	C	821.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.362;DP=367;ExcessHet=0;FS=1.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=1.37;SOR=0.404	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	9	0	1	0
chr13	45587090	45587090	T	C	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon5:c.A829G:p.T277A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0140037690243	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374753426	6.431e-06	6.156e-06	2.82e-06	1.014e-05	0.0002	3.03e-06	2.19e-06	4.063e-05	2.853e-05	0	0	0	0	0	0.0002	9.268e-07	0	8.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.99917	0.21543	N	0.695	0.17993	N	3.14	0.07920	T	-1.01	0.26639	N	0.55	0.57604	-1.0708	0.09238	T	0.037	0.16160	T	9	0.39342648	0.55056	T	0.014004	0.33816	T	0.206	0.49396	0.189	0.09907	0.134241683229	0.13084	0.1526777514864248	0.15189	.	.	0.491676270962	0.37671	T	0.011886	0.10538	T	-0.263355	0.12511	T	-0.419765	0.31103	T	0.383479272877788	0.28316	T	0.308669	0.05963	T	0.20956896	0.43227	0.18664137	0.41849	0.20956896	0.43227	0.18664137	0.41848	-3.615	0.18074	T	.	.	0.264	0.49874	B	.	.	3.362496	0.46425	22.3	0.99411658162012773	0.63310	0.85307	0.44428	D	AEFBI	0.121773	0.23660	N	0.261871362759926	0.54228	3.588979	0.194211453879357	0.49530	3.155008	0.0354877326035048	0.14202	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.01	4.01	0.45821	2.949000	0.48766	6.957000	0.57044	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.0:1.0	9.630	0.38941	704	0.57414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	810.43	39	chr13	45587090	.	T	C	810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.099;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.704;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	9	0	1	0
chr13	45596521	45596521	G	A	exonic	ERICH6B	.	nonsynonymous SNV	ERICH6B:NM_182542:exon3:c.C485T:p.A162V	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00356623925023	0.0007	0.000199681	0.0014	0	0	0.0016	0	0.0008	0.0038	0.0029	0.0002781	43	154602	rs200132694	0.0007	0.0007	0.0007	0.0007	0.0022	0.0007	0.0007	0.0019	0.0018	6.33e-05	0.0001	0	0.0001	2.017e-05	0.0016	0.0007	0.0005	0.0022	0.0005	0.0005	0.0005	0.0005	0.0029	0.0004	0.0004	0.0017	0.0013	0.0003	0	6.735e-05	0	0	0.0001	0	0.0007	0.0005	0.0029	0.13	0.26740	T	0.266	0.22627	T	0.025	0.19245	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.28	0.06523	T	-0.18	0.09796	N	0.047	0.01911	-0.9464	0.41582	T	0.008	0.02842	T	9	0.00821209	0.00186	T	0.003566	0.08123	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.04838689820476113	0.04781	.	.	0.177696079016	0.00075	T	0.009579	0.08713	T	-0.743875	0.00019	T	-0.845916	0.01014	T	0.00723497013822091	0.00083	T	0.267173	0.04416	T	0.023806976	0.01152	0.0331624	0.02167	0.023806976	0.01152	0.0331624	0.02166	-3.194	0.12407	T	.	.	0.100	0.17275	B	.	.	-0.922616	0.00889	0.032	0.7549601281714029	0.11097	0.00874	0.03459	N	AEFBCI	0.027197	0.02181	N	-1.73960092830414	0.00711	0.03067388	-1.84502724505652	0.00626	0.02780385	0.0124730567162139	0.12332	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.34	-4.67	0.03080	-2.169000	0.01355	0.646000	0.20366	-1.312000	0.01234	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.1371:0.1174:0.4522:0.2934	2.624	0.04625	707	0.57054	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1967.43	183	chr13	45596521	.	G	A	1967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=1338;ExcessHet=0;FS=1.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.337;SOR=0.776	GT:AD:DP:GQ:PL	0/0:154,0:154:99:0,120,1800	9	0	1	0
chr13	45713547	45713547	-	CTGCGGGAGGAGAACAAGGCC	exonic	CBY2	.	nonframeshift insertion	CBY2:NM_001286341:exon2:c.441_442insCTGCGGGAGGAGAACAAGGCC:p.N159_R160insKALREEN,CBY2:NM_001286342:exon3:c.414_415insCTGCGGGAGGAGAACAAGGCC:p.N150_R151insKALREEN,CBY2:NM_152719:exon3:c.522_523insCTGCGGGAGGAGAACAAGGCC:p.N186_R187insKALREEN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1497.39	33	chr13	45713547	.	T	TCTGCGGGAGGAGAACAAGGCC	1497.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.144;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.28;ReadPosRankSum=-0.594;SOR=0.758	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	9	0	1	0
chr13	46343457	46343457	G	A	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon13:c.C1763T:p.P588L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0135408481119	0.0002	.	0.0001	9.962e-05	0.0003	0	0	0.0001	0	6.168e-05	0.0001035	16	154602	rs145783562	9.236e-05	9.235e-05	8.168e-05	0.0001	0.0007	7.959e-05	7.432e-05	0.0002	0.0001	0	0.0003	0.0002	0	1.873e-05	0.0007	9.084e-05	0.0002	3.478e-05	7.888e-05	7.88e-05	1.285e-05	0.0001	0.0001	4.498e-05	3.514e-05	6.805e-05	5.088e-05	7.244e-05	0	0	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.083	0.41405	T	0.054	0.22658	B	0.007	0.12992	B	0.656722	0.10463	N	0.845655	1	0.08975	N	.	.	.	-0.14	0.65006	T	1.81	0.00507	N	0.098	0.07949	-1.0287	0.20876	T	0.075	0.30148	T	9	0.021328986	0.00508	T	0.013541	0.33021	T	0.077	0.22490	.	.	0.134241683229	0.13084	.	.	.	.	.	.	.	.	.	.	-0.208754	0.19556	T	-0.227118	0.52051	T	0.0184138924285209	0.00558	T	0.547145	0.18749	T	.	.	.	.	.	.	.	.	-3.155	0.11939	T	.	.	0.083	0.09094	B	.	.	-0.083101	0.03741	0.775	0.90657843869056687	0.19909	0.07052	0.13078	N	AEFBCI	0.043787	0.06965	N	-1.24508912829608	0.04365	0.1968393	-1.31095523943321	0.04288	0.2019278	0.999862477172134	0.44398	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567339	0.31927	0	.	.	5.55	-3.13	0.04944	-0.885000	0.04269	-7.950000	0.01056	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.163000	0.20749	0.3291:0.1695:0.2831:0.2183	0.288	0.00236	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1673.43	108	chr13	46343457	.	G	A	1673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.26;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.49;ReadPosRankSum=-0.274;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	9	0	1	0
chr13	46343496	46343496	C	T	exonic	RUBCNL	.	nonsynonymous SNV	RUBCNL:NM_001286762:exon13:c.G1724A:p.R575H	.	.	.	.	.	.	.	.	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00786911919381	.	0.000399361	6.779e-05	0	0.0003	0	0	7.672e-05	0	0	6.47e-05	10	154602	rs190172666	2.601e-05	2.668e-05	2.996e-05	2.202e-05	8.953e-05	1.934e-05	1.693e-05	2.987e-05	1.805e-05	0	8.953e-05	0	0	0	0	2.16e-05	0.0002	0	6.567e-05	6.561e-05	2.57e-05	0.0001	0.0005	3.515e-05	2.615e-05	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0.0034	0	0	0	0.014	0.53172	D	0.097	0.39190	T	0.004	0.12183	B	0.001	0.04355	B	0.000162	0.00496	N	2.953950	1	0.81001	D	.	.	.	0.9	0.45248	T	-1.42	0.34992	N	0.055	0.02658	-0.9850	0.33832	T	0.071	0.28904	T	9	0.009932578	0.00223	T	0.007869	0.20877	T	0.087	0.25287	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.283402	0.10309	T	-0.447221	0.28004	T	0.303137212991714	0.25133	T	0.361564	0.08348	T	.	.	.	.	.	.	.	.	-4.256	0.27556	T	.	.	0.084	0.09481	B	.	.	0.004724	0.04313	1.091	0.96541398828304892	0.30190	0.05586	0.11488	N	AEFBCI	0.044672	0.07217	N	-0.722997557971074	0.15377	0.7743718	-0.949048077565302	0.10945	0.5545741	0.999926324292593	0.46280	0.67177	0.52595	0	0.702456	0.74545	0	0.67347	0.61138	0	0.567339	0.31927	0	.	.	5.55	-3.02	0.05116	-1.709000	0.01990	-7.293000	0.01188	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.309:0.2643:0.167:0.2597	0.285	0.00232	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	587.43	47	chr13	46343496	.	C	T	587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.983;DP=376;ExcessHet=0;FS=4.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.423;SOR=0.223	GT:AD:DP:GQ:PL	0/1:20,25:45:99:599,0,468	9	0	1	0
chr13	46553473	46553473	-	CCA	exonic	LRCH1	.	nonframeshift insertion	LRCH1:NM_001164211:exon1:c.77_78insCCA:p.H33_Q34insH,LRCH1:NM_001164213:exon1:c.77_78insCCA:p.H33_Q34insH,LRCH1:NM_015116:exon1:c.77_78insCCA:p.H33_Q34insH	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.00439297	0.0011	0.0065	0.0072	0.0062	0	0	0	0	0.0011526	30	26028	rs533543595	0.0005	0.0005	0.0005	0.0004	0.0115	0.0004	0.0004	0.0105	0.0102	0.0115	0.0008	0	0.0029	0	0.0005	7.703e-05	0.0012	5.055e-05	0.0032	0.0033	0.0032	0.0032	0.0104	0.0030	0.0029	0.0096	0.0093	0.0104	0	0.0017	0	0.0027	0	0	0.0001	0.0043	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1100.39	36	chr13	46553473	.	C	CCCA	1100.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.491;DP=370;ExcessHet=0;FS=2.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.46;ReadPosRankSum=1.93;SOR=0.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,906	9	0	1	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	65.5	124	chr13	48459808	.	T	C	65.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.846;DP=820;ExcessHet=0.7463;FS=98.847;InbreedingCoeff=-0.1558;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.782;SOR=9.616	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	7	0	3	0
chr13	48707088	48707088	C	T	exonic	CYSLTR2	.	nonsynonymous SNV	CYSLTR2:NM_001308471:exon2:c.C271T:p.L91F,CYSLTR2:NM_001308470:exon3:c.C271T:p.L91F,CYSLTR2:NM_001308468:exon4:c.C271T:p.L91F,CYSLTR2:NM_001308469:exon4:c.C271T:p.L91F,CYSLTR2:NM_001308476:exon5:c.C271T:p.L91F,CYSLTR2:NM_020377:exon5:c.C271T:p.L91F,CYSLTR2:NM_001308465:exon6:c.C271T:p.L91F,CYSLTR2:NM_001308467:exon6:c.C271T:p.L91F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.078996869705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000069	0.52346	D	0.000000	0.999935	0.51612	D	3.165	0.88605	M	-0.84	0.74265	T	-3.91	0.73042	D	0.793	0.78927	0.287	0.87356	D	0.608	0.86089	D	10	0.9020765	0.89570	D	0.078997	0.73134	D	0.689	0.88679	0.813	0.92857	0.820264731763	0.81857	0.10742602207171828	0.10671	0.59830580156	0.55004	0.573267996311	0.49139	T	0.305049	0.67732	T	0.334068	0.85440	D	0.242089	0.85249	D	0.995085775852203	0.86803	D	0.80472	0.45238	T	0.67176086	0.76527	0.63818467	0.78869	0.67176086	0.76528	0.63818467	0.78870	-6.257	0.48381	T	.	.	0.740	0.75127	P	.;.	.;.	3.575614	0.50385	22.9	0.99904801034533286	0.97576	0.90035	0.50903	D	AEFI	0.425476	0.49022	N	0.651786939871812	0.76486	6.49515	0.584780102916667	0.73849	6.038128	0.999999804912509	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.08	5.23	0.72570	2.120000	0.41591	1.033000	0.23495	0.599000	0.40250	0.950000	0.33075	0.487000	0.25133	0.918000	0.45347	0.0:0.8438:0.0:0.1562	11.142	0.47635	707	0.57054	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1599.43	33	chr13	48707088	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.779;DP=413;ExcessHet=0;FS=2.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.53;ReadPosRankSum=-0.134;SOR=0.985	GT:AD:DP:GQ:PL	0/1:43,60:103:99:1611,0,1050	9	0	1	0
chr13	49207195	49207195	C	T	exonic	FNDC3A	.	nonsynonymous SNV	FNDC3A:NM_014923:exon24:c.C3229T:p.L1077F,FNDC3A:NM_001079673:exon26:c.C3397T:p.L1133F,FNDC3A:NM_001278438:exon26:c.C3397T:p.L1133F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0419690295787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.006	0.70582	D	0.949	0.77913	P	0.54	0.82059	P	0.000054	0.53742	D	0.000000	1	0.81001	D	2.585	0.75554	M	0.71	0.51228	T	-3.62	0.69593	D	0.323	0.57348	-0.4604	0.70054	T	0.295	0.66678	T	10	0.22287786	0.39051	T	0.041969	0.60212	D	0.243	0.54921	0.369	0.37850	0.372491666437	0.36864	0.5664525812468311	0.56573	0.839902955918	0.67995	0.563994050026	0.47830	T	0.819175	0.95560	D	-0.0276599	0.47755	T	-0.277508	0.47059	T	0.961157739162445	0.66003	D	0.813919	0.46746	T	0.4863372	0.66284	0.43706197	0.67138	0.4863372	0.66284	0.43706197	0.67138	-7.389	0.56827	T	.	.	0.215	0.45049	B	.;.;.	.;.;.	3.489993	0.48778	22.7	0.99826956051019289	0.90939	0.98366	0.82047	D	AEFBI	0.545040	0.55972	D	0.337088245672336	0.58062	3.976339	0.241441188949294	0.52164	3.393098	0.999988974942276	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	4.53	0.55009	2.912000	0.48479	2.732000	0.34396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.9238:0.0:0.0762	13.447	0.60600	660	0.61921	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1853.43	35	chr13	49207195	.	C	T	1853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=505;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.3;SOR=0.763	GT:AD:DP:GQ:PL	0/1:97,81:178:99:1865,0,2227	9	0	1	0
chr13	51281140	51281140	T	G	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_001242312:exon4:c.T1525G:p.S509A,FAM124A:NM_145019:exon5:c.T1633G:p.S545A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0102852259078	0.0007	0.000399361	0.0002	0.0019	0.0002	0	0	1.502e-05	0	0	0.0001811	28	154602	rs142444243	4.378e-05	4.378e-05	4.9e-05	3.85e-05	0.0015	3.509e-05	3.193e-05	0.0011	0.0010	0.0015	0.0002	0	0	0	0.0002	3.597e-06	3.312e-05	1.159e-05	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.563e-05	0	0	0	0	0	0	0.0002	0.189	0.23997	T	0.124	0.35455	T	0.017	0.21998	B	0.013	0.16460	B	0.204315	0.16521	N	0.541154	1	0.08975	N	2.045	0.56016	M	0.86	0.47130	T	-0.66	0.19085	N	0.109	0.27197	-1.0007	0.29717	T	0.084	0.32957	T	10	0.005458355	0.00120	T	0.010285	0.26632	T	0.113	0.31778	.	.	0.584274139494	0.58100	0.18127264353983008	0.18046	0.370271297437	0.38553	0.291831940413	0.09189	T	0.005794	0.05238	T	-0.553801	0.00277	T	-0.574131	0.15072	T	0.0136709909040761	0.00255	T	0.268873	0.04498	T	0.037277296	0.04748	0.030146684	0.01435	0.037277296	0.04748	0.030146684	0.01435	-4.249	0.27455	T	.	.	0.069	0.03093	B	.;.	.;.	0.480776	0.08503	5.264	0.97769337971388259	0.35857	0.07759	0.13758	N	AEFDBI	0.077210	0.15552	N	-0.760757781598991	0.14342	0.7136739	-0.800206530501956	0.14490	0.7573773	0.954830637536814	0.28153	0.645754	0.44609	0	0.563428	0.19063	0	0.696144	0.63334	0	0.635551	0.53088	0	.	.	5.2	-0.614	0.11009	-0.383000	0.07456	-1.843000	0.04626	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.429000	0.27427	0.2992:0.0792:0.2092:0.4123	1.514	0.02350	893	0.26510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1438.43	34	chr13	51281140	.	T	G	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.415;DP=456;ExcessHet=0;FS=2.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.264;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr13	51739117	51739117	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon7:c.G667A:p.V223I	.	421	1087	14	0	0	14	0.00639854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	0.0052	0.00359425	0.0023	0.0150	0.0023	0	0	0.0009	0.0011	0.0017	0.0021539	333	154602	rs77486739	0.0012	0.0013	0.0012	0.0012	0.0143	0.0012	0.0012	0.0132	0.0128	0.0143	0.0024	0.0013	0	1.875e-05	0.0137	0.0007	0.0031	0.0016	0.0049	0.0049	0.0052	0.0047	0.0142	0.0046	0.0045	0.0133	0.0129	0.0142	0	0.0041	0.0012	0	0	0.0102	0.0010	0.0062	0.0015	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.049499	0.999829	0.49512	D	0.77	0.19370	N	0.42	0.56937	T	0.3	0.04091	N	0.099	0.08088	-1.0401	0.17283	T	0.062	0.25994	T	10	0.006444901	0.00146	T	.	.	.	0.111	0.31313	.	.	0.436780212511	0.43300	0.03989879060847398	0.03935	0.292032833551	0.31608	0.546645700932	0.45383	T	0.011824	0.10494	T	-0.547364	0.00303	T	-0.547351	0.17580	T	0.019515675990676	0.00655	T	0.818018	0.47523	T	0.0341658	0.03783	0.054201543	0.09276	0.0341658	0.03782	0.054201543	0.09275	-0.516	0.00593	T	.	.	0.059	0.00861	B	.	.	2.512268	0.32452	19.05	0.38941181998068136	0.02657	0.89001	0.49211	D	AEFBI	0.280583	0.39437	N	-0.0793378337852234	0.38299	2.241043	0.16210152155543	0.47785	3.003696	0.999999999245909	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	6.17	5.32	0.75377	5.889000	0.69508	8.565000	0.77582	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2059:0.0:0.7941:0.0	7.247	0.25302	906	0.23090	WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.035354	0.019022	0.005848	0.000000	0.008621	0.000000	0.000000	0.05	1725.43	33	chr13	51739117	.	G	A	1725.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=448;ExcessHet=0;FS=1.376;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.509;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1181	9	0	1	0
chr13	51751363	51751363	G	A	exonic	WDFY2	.	nonsynonymous SNV	WDFY2:NM_052950:exon8:c.G779A:p.C260Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622	0.200464271272	7.7e-05	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs373800955	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.3	0.20357	T	0.997	0.70673	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.74	0.94936	H	0.12	0.61089	T	-3.82	0.71997	D	0.902	0.90251	0.012	0.82500	D	0.481	0.80159	T	10	0.8903177	0.88372	D	0.200464	0.86710	D	0.622	0.85354	.	.	0.878855509881	0.87767	0.7883419958189487	0.78786	1.50980411817	0.87210	0.851484298706	0.89838	D	0.130939	0.46013	T	0.367309	0.87818	D	0.289837	0.87664	D	0.998342275619507	0.93889	D	0.948305	0.80045	D	0.5883091	0.72059	0.5585368	0.74461	0.5883091	0.72060	0.5585368	0.74461	-16.338	0.98224	D	.	.	0.945	0.86393	P	.	.	5.170906	0.86670	29.0	0.99799741227191752	0.88461	0.99226	0.93090	D	AEFDBI	0.917020	0.88403	D	1.01279026352488	0.96125	14.329	0.974045118244774	0.98059	17.33525	0.999999999998976	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.644132	0.48003	0	0.567892	0.33627	0	.	.	6.01	6.01	0.97420	9.533000	0.97129	11.802000	0.96681	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	19.509	0.95127	894	0.26265	WD40 repeat, conserved site|WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1742.43	34	chr13	51751363	.	G	A	1742.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=450;ExcessHet=0;FS=2.17;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.803;SOR=0.633	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1217	9	0	1	0
chr13	51769275	51769275	G	A	exonic	DHRS12	.	nonsynonymous SNV	DHRS12:NM_001377533:exon8:c.C578T:p.P193L,DHRS12:NM_024705:exon8:c.C578T:p.P193L,DHRS12:NM_001270424:exon9:c.C725T:p.P242L,DHRS12:NM_001377930:exon9:c.C650T:p.P217L,DHRS12:NM_001377931:exon9:c.C734T:p.P245L,DHRS12:NM_001377932:exon9:c.C341T:p.P114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.00883262206168	.	0.000399361	0.0002	0.0002	0	0	0	0.0003	0	0	7.12e-05	11	154602	rs574218664	3.574e-05	3.967e-05	3.466e-05	3.685e-05	0.0002	2.763e-05	2.498e-05	9.971e-05	7.093e-05	0.0002	4.788e-05	0	0	0	0	3.659e-05	3.401e-05	0	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.718e-05	0.0002	0.0002	0.0004	0	6.538e-05	0	0	0	0	8.821e-05	0	0	0.019	0.54683	D	0.004	0.79402	D	0.936	0.67487	P	0.42	0.58220	B	.	.	.	.	0.952045	0.26451	N	3.385	0.91502	M	1.99	0.21666	T	-8.58	0.98022	D	0.186	0.20262	-0.9782	0.35413	T	0.100	0.37265	T	9	0.10534829	0.19468	T	0.008833	0.23294	T	0.204	0.49076	.	.	0.227934060464	0.22382	0.13821831678133026	0.13745	0.167412235098	0.18886	0.343033909798	0.16892	T	0.071819	0.34303	T	-0.406968	0.02083	T	-0.46598	0.25950	T	0.803594410419464	0.46599	D	0.565643	0.19997	T	0.107840754	0.25500	0.112643376	0.27180	0.107840754	0.25500	0.112643376	0.27180	-11.479	0.82220	D	.	.	0.483	0.64907	A	.;.	.;.	1.674468	0.21346	15.16	0.85436376369978206	0.15891	0.16582	0.19455	N	AEFBHCI	0.058441	0.10966	N	-0.673931807781613	0.16767	0.8571383	-0.914526259184156	0.11751	0.600593	0.999842077906365	0.43971	0.660377	0.49826	0	0.694456	0.67091	0	0.489635	0.07774	0	0.567892	0.33627	0	.	.	2.74	-1.6	0.07977	2.802000	0.47612	-0.457000	0.09062	-0.550000	0.04901	0.993000	0.37899	0.000000	0.08366	0.007000	0.07825	0.178:0.0:0.6596:0.1624	6.279	0.20202	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000508	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	772.43	33	chr13	51769275	.	G	A	772.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.346;SOR=0.71	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr13	52455575	52455575	C	T	exonic	CKAP2	.	nonsynonymous SNV	CKAP2:NM_001098525:exon1:c.C19T:p.P7S,CKAP2:NM_001286687:exon1:c.C19T:p.P7S,CKAP2:NM_018204:exon1:c.C19T:p.P7S	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0113011621935	0.0002	.	7.707e-05	0.0001	0	0	0	9.456e-05	0	0.0001	7.12e-05	11	154602	rs146292755	6.78e-05	6.84e-05	6.678e-05	6.882e-05	0.0007	5.676e-05	5.266e-05	0.0002	0.0001	2.997e-05	0	0	0	0	0.0007	6.747e-05	0.0001	0.0001	6.571e-05	6.567e-05	7.71e-05	5.38e-05	9.65e-05	3.517e-05	2.616e-05	3.762e-05	2.575e-05	9.65e-05	0	0	0	0	0	0	8.821e-05	0	0	0.029	0.45756	D	0.048	0.48594	D	0.985	0.61118	D	0.833	0.59784	P	0.159350	0.17712	N	0.515189	1	0.08975	N	1.905	0.50856	L	1.45	0.32482	T	-2.25	0.50337	N	0.381	0.42247	-0.7867	0.55921	T	0.136	0.45203	T	10	0.12966838	0.24673	T	0.011301	0.28784	T	0.099	0.28413	.	.	0.382087116544	0.37822	0.1481453873107574	0.14736	0.208740247502	0.23342	0.448990106583	0.31805	T	0.250815	0.62096	T	-0.356116	0.04355	T	-0.489633	0.23429	T	0.42606595158577	0.29915	T	0.728227	0.34274	T	0.048116677	0.08333	0.085074045	0.19616	0.048116677	0.08333	0.085074045	0.19615	-2.776	0.08576	T	.	.	0.200	0.43935	B	.;.;.	.;.;.	2.327715	0.29814	18.24	0.99791885123388246	0.87750	0.71804	0.35172	D	AEFGBHCIJ	0.042212	0.06520	N	-0.0482736472876643	0.39678	2.343894	-0.234650458108159	0.30304	1.705081	0.999999999999743	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.08	4.23	0.49319	1.270000	0.32689	0.352000	0.17487	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	0.1848:0.8152:0.0:0.0	10.992	0.46771	612	0.66786	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001520	0.010204	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1384.43	33	chr13	52455575	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=-0.134;SOR=0.638	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	9	0	1	0
chr13	52642567	52642567	A	-	exonic	HNRNPA1L2	.	frameshift deletion	HNRNPA1L2:NM_001011725:exon6:c.75delA:p.T26Lfs*5,HNRNPA1L2:NM_001011724:exon7:c.75delA:p.T26Lfs*5	.	461	1031	25	5	0	35	0.0166905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0113	0.0101837	0.0059	0.0173	0.0032	0	0.0023	0.0030	0.0099	0.0173	0.0005763	15	26028	rs374312718	0.0037	0.0037	0.0032	0.0043	0.0189	0.0037	0.0036	0.0172	0.0168	0.0184	0.0036	0.0052	2.519e-05	0.0027	0.0189	0.0023	0.0051	0.0174	0.0074	0.0074	0.0073	0.0075	0.0171	0.0070	0.0069	0.0161	0.0157	0.0171	0	0.0052	0.0058	0	0.0018	0.0068	0.0031	0.0071	0.0143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018519	0.015625	0.030220	0.012931	0.000000	0.017544	0.011364	0.004098	0.05	517.39	35	chr13	52642566	.	CA	C	517.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.249;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.76;MQRankSum=2.08;QD=14.37;ReadPosRankSum=-1.047;SOR=0.724	GT:AD:DP:GQ:PL	0/0:27,0:27:78:0,78,1170	9	0	1	0
chr13	52643274	52643274	A	G	exonic	HNRNPA1L2	.	nonsynonymous SNV	HNRNPA1L2:NM_001011725:exon6:c.A782G:p.N261S,HNRNPA1L2:NM_001011724:exon7:c.A782G:p.N261S	.	433	1058	27	4	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	0.0077	.	0.0059	0.0162	0.0032	0	0.0023	0.0030	0.0107	0.0174	0.0013063	34	26028	rs342775	0.0037	0.0037	0.0032	0.0042	0.0179	0.0036	0.0036	0.0166	0.0163	0.0177	0.0036	0.0052	2.521e-05	0.0022	0.0179	0.0023	0.0051	0.0174	0.0073	0.0073	0.0072	0.0074	0.0167	0.0069	0.0068	0.0156	0.0152	0.0167	0	0.0052	0.0058	0	0.0018	0.0068	0.0032	0.0071	0.0145	0.034	0.44029	D	0.236	0.24694	T	0.707	0.42016	P	0.213	0.37437	B	.	.	.	.	0.993661	0.23670	N	1.635	0.41844	L	-2.2	0.86888	D	-2.85	0.60029	D	0.143	0.14338	-0.7107	0.59918	T	0.198	0.55286	T	9	0.006439775	0.00146	T	.	.	.	0.242	0.54781	.	.	0.515828161817	0.51224	0.8268350392294082	0.82641	.	.	0.648876965046	0.59827	T	0.02239	0.17269	T	-0.464508	0.00921	T	-0.426385	0.30345	T	0.0383935870855039	0.03402	T	0.779722	0.41422	T	0.047855284	0.08248	0.081999235	0.18680	0.047855284	0.08247	0.081999235	0.18679	-7.064	0.54500	T	.	.	0.064	0.01738	B	.	.	1.317504	0.17209	13.03	0.78058276187797782	0.12138	0.50040	0.28571	D	AEFBI	0.156216	0.28153	N	-0.436778897230713	0.24191	1.304441	-0.535110755619253	0.21202	1.145867	0.833319217850346	0.24732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	0.352	0.352	0.15287	2.062000	0.41039	0.322000	0.17195	0.198000	0.17903	1.000000	0.71638	0.116000	0.22850	0.676000	0.33425	0.9998:0.0:2.0E-4:0.0	5.098	0.14079	355	0.85216	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017354	0.021053	0.029973	0.012295	0.000000	0.008621	0.003226	0.003937	0.05	340.43	34	chr13	52643274	.	A	G	340.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.166;DP=293;ExcessHet=0;FS=5.322;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=47.04;MQRankSum=-1.066;QD=10.98;ReadPosRankSum=-0.1;SOR=0.468	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1200	9	0	1	0
chr13	52846666	52846666	T	C	exonic	PCDH8	.	nonsynonymous SNV	PCDH8:NM_002590:exon1:c.A1771G:p.S591G,PCDH8:NM_032949:exon1:c.A1771G:p.S591G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0328519598372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.895e-07	1.368e-06	0	1.387e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.398	0.17064	T	0.026	0.19406	B	0.131	0.32951	B	0.000095	0.51296	D	0.000000	0.997981	0.44386	D	1.68	0.43186	L	0.7	0.51474	T	-2.11	0.52938	N	0.298	0.33687	-1.0311	0.20099	T	0.086	0.33494	T	10	0.18963549	0.34572	T	0.032852	0.54562	D	0.094	0.27141	0.716	0.85141	0.410734915765	0.40690	0.6495755230108065	0.64893	.	.	0.624761164188	0.56402	T	0.356556	0.72338	T	-0.159574	0.26824	T	-0.466993	0.25839	T	0.705677807331085	0.40990	D	0.808919	0.45897	T	0.42938924	0.62712	0.30084917	0.56118	0.42938924	0.62712	0.30084917	0.56117	-7.709	0.59195	D	.	.	0.098	0.19518	B	.;.	.;.	2.589368	0.33590	19.38	0.94353304752519285	0.24705	0.97802	0.77240	D	AEFDBCI	0.464095	0.51274	N	-0.260166382534136	0.30700	1.714235	-0.0889178887674112	0.35846	2.078823	0.999999997048909	0.74766	0.59774	0.34471	0	0.615948	0.52940	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.9	3.9	0.44240	3.813000	0.55340	0.468000	0.18684	0.553000	0.28181	1.000000	0.71638	0.230000	0.23777	0.998000	0.85391	0.0:0.0:0.0:1.0	12.894	0.57478	372	0.84213	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	956.43	89	chr13	52846666	.	T	C	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.886;DP=478;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-1.358;SOR=0.646	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,118,1365	9	0	1	0
chr13	53041970	53041970	C	T	exonic	OLFM4	.	stopgain	OLFM4:NM_006418:exon3:c.C418T:p.R140X	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.125e-05	0	0.0002	0	0	4.501e-05	0	0	3.88e-05	6	154602	rs200157912	2.668e-05	2.668e-05	2.587e-05	2.751e-05	0.0005	1.998e-05	1.754e-05	0.0001	7.544e-05	0	4.474e-05	0	2.52e-05	0	0.0005	2.608e-05	4.968e-05	1.159e-05	1.973e-05	2.627e-05	1.285e-05	2.694e-05	4.41e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.478290	0.12196	N	0.743493	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.877	0.87481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205374	0.74394	D	0.282931	0.87280	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.274729	0.96343	36	0.99795843349267532	0.88106	0.11410	0.16615	N	AEFI	0.289153	0.40087	N	0.498533137079004	0.67005	5.024151	0.28808504739127	0.54842	3.648183	2.22307475107998E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	4.79	0.60909	1.329000	0.33375	2.259000	0.31747	0.599000	0.40250	0.001000	0.13787	0.999000	0.35428	0.347000	0.25591	0.2621:0.7379:0.0:0.0	13.319	0.59860	339	0.86048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1811.43	40	chr13	53041970	.	C	T	1811.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=462;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.12;SOR=0.836	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1171	9	0	1	0
chr13	59971024	59971024	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon10:c.C998T:p.P333L,DIAPH3:NM_030932:exon10:c.C998T:p.P333L,DIAPH3:NM_001258367:exon14:c.C1649T:p.P550L,DIAPH3:NM_001258368:exon14:c.C1577T:p.P526L,DIAPH3:NM_001258366:exon15:c.C1754T:p.P585L,DIAPH3:NM_001042517:exon16:c.C1787T:p.P596L,DIAPH3:NM_001258369:exon16:c.C1787T:p.P596L	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	0	1461	59	2	0	63	0.0211055	.	.	.	504315	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.304	.	0.0040	0.00778754	0.0085	0.0008	0.0062	0.0001	0.0014	0.0060	0.0089	0.0318	0.0076778	1187	154602	rs150023947	0.0063	0.0063	0.0055	0.0072	0.0319	0.0062	0.0062	0.0309	0.0305	0.0006	0.0044	0.0296	0.0001	0.0011	0.0119	0.0044	0.0086	0.0319	0.0047	0.0047	0.0042	0.0052	0.0251	0.0044	0.0043	0.0215	0.0201	0.0008	0.0461	0.0051	0.0300	0	0.0016	0.0034	0.0043	0.0085	0.0251	0.005	0.68238	D	0.001	0.83351	D	0.125	0.30817	B	0.028	0.30031	B	0.000959	0.40932	D	0.247452	1	0.81001	D	2.25	0.63811	M	-2.15	0.86481	D	-5.16	0.84246	D	0.291	0.33469	-0.2568	0.76174	T	0.415	0.76211	T	10	0.0070751607	0.00161	T	.	.	.	0.304	0.62510	.	.	0.931659697617	0.93095	0.43640497725947763	0.43557	0.595140059168	0.54798	0.630806744099	0.57260	T	0.154959	0.49648	T	-0.235202	0.15967	T	-0.0869431	0.64391	T	0.0280072759026319	0.01689	T	0.813719	0.56350	T	0.23259822	0.46050	0.23462705	0.48684	0.23259822	0.46050	0.23462705	0.48683	-8.137	0.63445	D	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.435212	0.47760	22.5	0.98970279956217821	0.49520	0.96298	0.68457	D	AEFDBI	0.657088	0.62884	D	-0.00404400910006807	0.41672	2.496801	0.127604620753477	0.45966	2.850574	0.999999997408739	0.74766	0.675385	0.55134	0	0.633656	0.55848	0	0.693117	0.63056	0	0.655142	0.61905	0	.	.	5.27	4.41	0.52588	5.930000	0.69823	6.163000	0.54371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.749000	0.35751	0.0765:0.0:0.9235:0.0	13.275	0.59617	908	0.22609	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.012601	0.000000	0.010870	0.011696	0.050000	0.000000	0.021472	0.018939	0.05	1042.43	33	chr13	59971024	.	G	A	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.324;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.46;SOR=0.664	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,950	9	0	1	0
chr13	60008567	60008567	G	A	exonic	DIAPH3	.	nonsynonymous SNV	DIAPH3:NM_001258370:exon3:c.C202T:p.R68W,DIAPH3:NM_030932:exon3:c.C202T:p.R68W,DIAPH3:NM_001258367:exon7:c.C853T:p.R285W,DIAPH3:NM_001258368:exon7:c.C781T:p.R261W,DIAPH3:NM_001258366:exon8:c.C958T:p.R320W,DIAPH3:NM_001042517:exon9:c.C991T:p.R331W,DIAPH3:NM_001258369:exon9:c.C991T:p.R331W	Auditory neuropathy, autosomal dominant, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434	0.22984629181	.	.	2.489e-05	0	0	0	0	1.502e-05	0	0.0001	2.59e-05	4	154602	rs751399426	6.845e-06	6.841e-06	5.449e-06	8.256e-06	0.0002	3.46e-06	2.52e-06	1.583e-05	9.3e-06	2.99e-05	0	0	0	0	0.0002	2.699e-06	1.658e-05	4.64e-05	1.316e-05	1.314e-05	0	2.695e-05	2.417e-05	2.19e-06	8.2e-07	.	.	2.417e-05	0	0	0	0	0	0	1.471e-05	0	0	0.013	0.58626	D	0.004	0.74150	D	0.995	0.73220	D	0.745	0.57495	P	0.019217	0.27308	N	0.407810	0.98136	0.25045	N	2.095	0.58118	M	-2.24	0.87194	D	-4.5	0.78135	D	0.436	0.48596	-0.0751	0.80662	T	0.665	0.88381	D	10	0.6597771	0.70085	D	0.229846	0.88203	D	0.434	0.73951	0.63	0.76588	0.958088355825	0.95763	0.4302385008212907	0.42940	0.53220533833	0.50693	0.251112222672	0.03886	T	0.643405	0.89092	D	-0.0902887	0.38027	T	-0.185942	0.55969	T	0.976059317588806	0.71208	D	0.963304	0.92911	D	0.24700128	0.47674	0.25952715	0.51703	0.24700128	0.47674	0.25952715	0.51702	-11.031	0.79828	D	.	.	0.115	0.25396	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.645271	0.73998	26.1	0.99877971989277192	0.95491	0.87858	0.47544	D	AEFI	0.549674	0.56246	D	0.309291820193332	0.56624	3.827443	0.27565909459495	0.54123	3.578	0.994827798798356	0.33818	0.706298	0.61202	0	0.708844	0.79440	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	2.95	0.33285	3.178000	0.50579	3.890000	0.40289	0.618000	0.50648	0.996000	0.39380	1.000000	0.68203	0.900000	0.43643	0.0:0.1275:0.6077:0.2647	10.8	0.45685	935	0.14827	Formin, FH3 domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, FH3 domain;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1912.43	33	chr13	60008567	.	G	A	1912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=0.453;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1009	9	0	1	0
chr13	61411453	61411453	T	A	exonic	PCDH20	.	nonsynonymous SNV	PCDH20:NM_022843:exon2:c.A2646T:p.E882D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00948526075562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.0	0.92824	D	.	.	.	.	.	.	0.000003	0.62929	D	0.000000	0.952219	0.37774	D	0.895	0.22405	L	0.51	0.55439	T	-0.54	0.16598	N	0.33	0.37093	-0.8731	0.50295	T	0.164	0.50045	T	10	0.23747957	0.40849	T	0.009485	0.24832	T	0.256	0.56694	0.489	0.57415	0.595437784881	0.59222	0.43121529406680764	0.43038	0.328025167496	0.34925	0.527984857559	0.42751	T	0.012762	0.11161	T	-0.0385584	0.46164	T	-0.293163	0.45443	T	0.603427112102509	0.36537	D	0.816918	0.47330	T	0.16690753	0.37054	0.20598748	0.44792	0.16690753	0.37054	0.20598748	0.44791	-3.569	0.17410	T	.	.	0.080	0.07745	B	.;.	.;.	1.788274	0.22733	15.74	0.98166857627438808	0.38822	0.62788	0.31888	D	AEFBCI	0.398950	0.47442	N	-0.202143833230663	0.33046	1.870462	-0.274459002700704	0.28943	1.617679	3.00464959009131E-4	0.06406	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.584449	0.35598	0	.	.	6.07	-0.602	0.11051	0.669000	0.24823	-0.312000	0.10031	0.665000	0.62972	0.951000	0.33123	0.025000	0.21018	0.999000	0.91618	0.0:0.4379:0.0:0.5621	11.689	0.50766	960	0.08626	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2198.43	36	chr13	61411453	.	T	A	2198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.338;DP=486;ExcessHet=0;FS=0.572;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.784;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	9	0	1	0
chr13	63832702	63832702	G	A	exonic	LOC647264	.	nonsynonymous SNV	LOC647264:NM_001370368:exon1:c.C292T:p.R98W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1412123296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	6.612e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11462158	0.21572	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465653	0.13651	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.48489	B	.	.	1.214897	0.16082	12.30	0.28792767126974156	0.01496	0.02469	0.06929	N	AEFI	.	.	.	.	.	.	.	.	.	8.09018747168187E-4	0.07842	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0841919	0.19216	1.2	-2.4	0.06204	-0.999000	0.03808	-1.520000	0.05255	-1.329000	0.01219	0.941000	0.32681	0.000000	0.08366	0.032000	0.13371	0.2173:0.0:0.5199:0.2628	2.638	0.04663	986	0.02773	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	423.43	34	chr13	63832702	.	G	A	423.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.603;DP=321;ExcessHet=0;FS=1.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37;MQRankSum=-1.035;QD=10.33;ReadPosRankSum=-0.078;SOR=0.466	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,413	9	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:70,57:134:99:309,0,697	0	0	10	0
chr13	75326228	75326228	G	C	exonic	TBC1D4	.	nonsynonymous SNV	TBC1D4:NM_001286658:exon10:c.C2002G:p.L668V,TBC1D4:NM_001286659:exon10:c.C2002G:p.L668V,TBC1D4:NM_014832:exon10:c.C2002G:p.L668V	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0289985838194	.	.	2.49e-05	0	0	0	0	1.5e-05	0	0.0001	1.94e-05	3	154602	rs759763499	1.573e-05	1.573e-05	1.089e-05	2.063e-05	0.0003	1.048e-05	8.75e-06	0.0001	9.45e-05	0	0	0	0	0	0.0003	0	8.279e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.40319	T	0.036	0.52060	D	0.729	0.90584	P	0.623	0.84481	P	0.007292	0.31484	N	0.147378	0.999994	0.58761	D	2.05	0.56469	M	0.65	0.52642	T	-1.2	0.30964	N	0.505	0.53708	-0.8962	0.48370	T	0.202	0.55947	T	10	0.16101041	0.30213	T	0.028999	0.51584	D	0.151	0.39764	0.246	0.18139	0.655285266991	0.65241	0.5710197310555528	0.57029	1.09284184008	0.77491	0.512019395828	0.40505	T	0.08623	0.37901	T	-0.33773	0.05547	T	-0.430753	0.29849	T	0.287652403116226	0.24491	T	0.918208	0.71813	D	0.088550374	0.20660	0.06473003	0.13016	0.088550374	0.20660	0.06473003	0.13015	-7.72	0.59147	D	.	.	0.070	0.11749	B	.;.;.;.;.	.;.;.;.;.	3.215418	0.43783	21.8	0.98683902803236379	0.44652	0.85521	0.44662	D	ALL	0.275743	0.39063	N	-0.200692022945938	0.33104	1.874508	-0.296338441914409	0.28219	1.571653	0.999999877907866	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.657601	0.63696	0	.	.	5.48	1.84	0.24348	3.364000	0.52052	4.571000	0.43881	-0.633000	0.04490	0.998000	0.41325	1.000000	0.68203	0.307000	0.24666	0.1855:0.1165:0.6981:0.0	7.865	0.28693	966	0.07191	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3213.14	35	chr13	75326228	.	G	C	3213.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.342;DP=524;ExcessHet=0.2348;FS=5.225;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=2.2;SOR=0.452	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1234	8	0	2	0
chr13	76992174	76992174	T	C	exonic	CLN5	.	nonsynonymous SNV	CLN5:NM_001366624:exon1:c.T76C:p.W26R,CLN5:NM_006493:exon1:c.T76C:p.W26R	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	202778	not_provided|Neuronal_ceroid_lipofuscinosis_5|CLN5-related_disorder|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731,Orphanet:168491,Orphanet:228360|.|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.251	0.00466099649959	0.0013	0.000599042	0.0018	0.0003	0.0005	0	0	0.0025	0	0.0022	0.0012742	197	154602	rs199727787	0.0012	0.0012	0.0011	0.0012	0.0164	0.0011	0.0011	0.0134	0.0123	0.0006	0.0003	0.0223	2.529e-05	0	0.0164	0.0005	0.0034	0.0023	0.0012	0.0012	0.0012	0.0013	0.0023	0.0011	0.0010	0.0013	0.0010	0.0003	0	0.0005	0.0242	0	0	0.0171	0.0009	0.0014	0.0023	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.074966	0.21251	N	0.503542	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-0.9557	0.39970	T	0.046	0.19760	T	10	0.004347682	0.00088	T	0.004661	0.11566	T	0.251	0.56024	0.614	0.74768	0.328752806141	0.32485	.	.	0.315112313597	0.33798	0.714274346828	0.69213	T	0.073766	0.46340	T	-0.333011	0.05887	T	-0.257291	0.49095	T	0.0035346265132851	0.00037	T	0.272073	0.04599	T	0.08435695	0.19522	0.08009138	0.18088	0.08435695	0.19522	0.08009138	0.18087	-2.851	0.08663	T	.	.	0.121	0.25166	B	.;.;.;.;.;.	.;.;.;.;.;.	0.902027	0.12763	9.278	0.40149424438879883	0.02815	0.06829	0.12853	N	AEFGBHCI	0.038351	0.05414	N	-1.32289881432295	0.03414	0.1524763	-1.40063660044462	0.03246	0.1510322	0.9999999999992	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	3.96	-1.88	0.07294	-0.016000	0.12550	0.602000	0.19937	-0.238000	0.07553	0.012000	0.18695	0.085000	0.22446	0.009000	0.08673	0.1477:0.3857:0.0:0.4666	4.782	0.12574	907	0.22727	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014374	0.005263	0.008174	0.043210	0.000000	0.025862	0.015723	0.007634	0.05	659.43	35	chr13	76992174	.	T	C	659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=436;ExcessHet=0;FS=3.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.163;SOR=1.086	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,938	9	0	1	0
chr13	77098932	77098932	G	A	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon56:c.C8222T:p.S2741L	.	.	.	.	.	.	.	.	.	.	.	3983165	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.00339245504207	.	.	1.651e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs775162412	5.475e-06	5.472e-06	5.447e-06	5.502e-06	1.159e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	3.83e-05	0	0	0	5.397e-06	0	1.159e-05	1.973e-05	1.97e-05	0	4.04e-05	0.0004	5.25e-06	2.46e-06	6.828e-05	2.857e-05	0	0	0	0	0.0004	0	0	1.471e-05	0	0	0.119	0.28026	T	0.335	0.18286	T	.	.	.	.	.	.	0.000566	0.43250	D	0.205916	0.991507	0.41404	D	.	.	.	1.64	0.27822	T	-1.35	0.33598	N	0.244	0.27554	-1.0537	0.13386	T	0.109	0.39344	T	10	0.11342132	0.21307	T	0.003392	0.07603	T	0.045	0.12272	0.209	0.12639	0.147330786459	0.14319	.	.	0.255605690432	0.28147	0.361216515303	0.19563	T	.	.	.	-0.187307	0.22655	T	-0.50683	0.21641	T	0.48947861790657	0.32245	T	0.938306	0.76795	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.308745	0.45458	22.1	0.85976589793747682	0.16233	0.97924	0.78163	D	AEFBI	0.672001	0.63855	D	0.0308284943218417	0.43262	2.622546	0.24408528737571	0.52312	3.407037	0.999999999541139	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	6.288000	0.72696	8.722000	0.78164	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.540	0.95264	908	0.22609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1566.43	39	chr13	77098932	.	G	A	1566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=419;ExcessHet=0;FS=3.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=1.32;SOR=0.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	9	0	1	0
chr13	77185330	77185330	T	C	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon32:c.A4492G:p.I1498V	.	.	.	.	.	.	.	.	.	.	.	3210785	MYCBP2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00379393	0.0014	0.0004	8.699e-05	0.0183	0	0	0.0011	0.0004	0.0013842	214	154602	rs76744435	0.0007	0.0007	0.0007	0.0007	0.0232	0.0007	0.0006	0.0220	0.0215	5.975e-05	2.236e-05	3.827e-05	0.0232	0	0	3.597e-06	0.0012	0.0002	0.0008	0.0008	0.0007	0.0010	0.0210	0.0007	0.0007	0.0178	0.0166	0.0001	0	0.0001	0	0.0210	0	0	2.94e-05	0.0009	0.0014	0.311	0.13971	T	0.626	0.07292	T	.	.	.	.	.	.	0.000234	0.47286	D	0.147601	0.849397	0.35196	D	.	.	.	1.47	0.31987	T	-0.36	0.13035	N	0.063	0.03502	-1.0652	0.10502	T	0.018	0.07329	T	10	0.0052241087	0.00114	T	.	.	.	0.054	0.15330	.	.	0.110392049598	0.10638	.	.	0.423955509883	0.42838	0.4918153584	0.37691	T	.	.	.	-0.530471	0.00382	T	-0.519166	0.20379	T	0.018535330674997	0.00569	T	0.910609	0.68297	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.090634	0.26594	17.17	0.95167370650197658	0.26320	0.89177	0.49486	D	AEFBI	0.227634	0.35142	N	-0.400019486620857	0.25469	1.382781	-0.156387174152619	0.33163	1.894193	0.999998452091283	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.65	4.44	0.53164	3.852000	0.55642	5.088000	0.47328	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1379:0.8621	12.690	0.56335	863	0.32847	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	826.43	35	chr13	77185330	.	T	C	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=361;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=1.12;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1005	9	0	1	0
chr13	77243862	77243862	C	T	exonic	MYCBP2	.	nonsynonymous SNV	MYCBP2:NM_015057:exon16:c.G2471A:p.R824K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00400880951867	.	.	8.317e-06	0	0	0	0	0	0	6.101e-05	3.84e-05	1	26028	rs760601740	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	0.05262	T	0.699	0.05747	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	.	.	.	1.68	0.27184	T	-0.67	0.19297	N	0.285	0.32259	-1.1419	0.01289	T	0.085	0.33128	T	10	0.25152257	0.42493	T	0.004009	0.09525	T	0.194	0.47447	0.491	0.57732	0.400080326499	0.39624	.	.	1.04435630329	0.75902	0.873933553696	0.93126	D	.	.	.	-0.194134	0.21653	T	-0.335108	0.40897	T	0.8101966381073	0.47061	D	0.779122	0.41282	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.994088	0.39986	21.1	0.95382130971154211	0.26809	0.96937	0.71758	D	AEFBI	0.760727	0.69866	D	0.375761463476672	0.60111	4.196589	0.463932536686375	0.65615	4.846386	0.999999999999943	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.57	5.57	0.84021	6.179000	0.71907	7.675000	0.64997	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.490000	0.28791	0.0:1.0:0.0:0.0	19.555	0.95331	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5403.12	33	chr13	77243862	.	C	T	5403.12	.	AC=2;AF=0.1;AN=20;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.53;SOR=0.947	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	1	0	0
chr13	78602247	78602247	-	CGC	exonic	POU4F1	.	nonframeshift insertion	POU4F1:NM_006237:exon2:c.427_428insGCG:p.G142_A143insG	.	502	1017	2	0	1	3	0.000982318	.	.	.	2735826	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1175117364	0.0020	0.0012	0.0020	0.0020	0.0022	0.0019	0.0019	0.0020	0.0020	0.0003	0.0019	0	0	0	0.0018	0.0021	0.0020	0.0022	0.0011	0.0011	0.0012	0.0010	0.0018	0.0009	0.0009	0.0016	0.0015	0.0003	0	0.0008	0	0.0002	0.0002	0	0.0018	0.0015	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	184.78	2	chr13	78602247	.	G	GCGC	184.78	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=72;ExcessHet=0;FS=0;InbreedingCoeff=-0.0789;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=30.8;ReadPosRankSum=-1.383;SOR=2.303	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,300	9	0	1	0
chr13	85794314	85794314	C	T	exonic	SLITRK6	.	nonsynonymous SNV	SLITRK6:NM_032229:exon2:c.G2195A:p.G732E	Deafness and myopia, Autosomal recessive	420	1096	6	0	0	6	0.00272975	.	.	.	504604	SLITRK6-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	0.00989627189309	0.0073	0.00199681	0.0048	0.0019	0.0018	0	0.0050	0.0073	0.0078	0.0008	0.0048188	745	154602	rs74591375	0.0071	0.0071	0.0074	0.0069	0.0085	0.0070	0.0070	0.0084	0.0083	0.0025	0.0026	0.0021	0	0.0045	0.0036	0.0085	0.0057	0.0010	0.0054	0.0054	0.0058	0.0050	0.0084	0.0051	0.0050	0.0078	0.0076	0.0032	0	0.0034	0.0014	0	0.0041	0.0171	0.0084	0.0066	0.0008	0.588	0.05844	T	1.0	0.01155	T	0.09	0.25173	B	0.038	0.23361	B	0.001593	0.38554	U	0.169822	0.998573	0.45107	D	1.735	0.44892	L	0.53	0.55090	T	-0.03	0.07444	N	0.342	0.38335	-1.0938	0.04929	T	0.063	0.26279	T	10	0.007871985	0.00179	T	0.009896	0.25788	T	0.061	0.17616	.	.	0.734331791237	0.73196	0.12945554590267244	0.12870	0.0591815698512	0.06573	0.599845409393	0.52882	T	0.077565	0.35685	T	-0.417704	0.01770	T	-0.359805	0.38076	T	0.0185077129968375	0.00566	T	0.861714	0.55578	D	0.07820364	0.17795	0.11474935	0.27700	0.09180066	0.21519	0.11538226	0.27852	-2.862	0.08769	T	.	.	0.127	0.26978	B	.;.;.	.;.;.	3.727571	0.53306	23.3	0.98396764371508483	0.41020	0.96848	0.71267	D	AEFBI	0.799694	0.72588	D	-0.261908228998192	0.30631	1.709741	-0.0815979451378133	0.36151	2.100223	0.995934296147342	0.34418	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.84	4.13	0.47661	5.627000	0.67460	4.925000	0.46078	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.8728:0.0:0.1272	11.720	0.50940	973	0.05605	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010070	0.020202	0.013587	0.014620	0.000000	0.000000	0.006098	0.000000	0.05	1708.43	35	chr13	85794314	.	C	T	1708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.182;SOR=0.689	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	9	0	1	0
chr13	91693274	91693274	C	A	exonic	GPC5	.	nonsynonymous SNV	GPC5:NM_004466:exon3:c.C413A:p.A138D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0258491574561	.	0.000199681	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs555388978	6.841e-06	6.84e-06	6.806e-06	6.876e-06	0.0002	3.46e-06	2.52e-06	5.395e-05	4.042e-05	0	0	0	0	0	0.0002	0	0	0.0001	6.569e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.567	0.06243	T	0.47	0.12246	T	0.888	0.48822	P	0.763	0.56556	P	0.011654	0.29451	N	0.378243	0.935872	0.37136	D	2.395	0.69210	M	0.68	0.51952	T	-2.92	0.61129	D	0.588	0.60833	-0.8132	0.54356	T	0.182	0.52965	T	10	0.3228818	0.49632	T	0.025849	0.48797	D	0.198	0.48105	0.565	0.68633	0.445811967706	0.44203	0.6879609044738317	0.68736	0.264006674649	0.28951	0.39762955904	0.24739	T	0.42947	0.77826	T	-0.180521	0.23658	T	-0.315554	0.43059	T	0.921611368656158	0.58135	D	0.79622	0.43953	T	0.25783396	0.48830	0.27059624	0.52952	0.25783396	0.48830	0.27059624	0.52951	-10.7	0.77987	D	.	.	0.208	0.43558	B	.;.	.;.	3.680824	0.52392	23.2	0.9908290354770094	0.52002	0.69151	0.34075	D	AEFBI	0.512801	0.54086	D	0.173353806693738	0.49922	3.187429	0.109257727088831	0.45020	2.772789	0.957429374784137	0.28303	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.07	3.32	0.37134	2.798000	0.47578	3.240000	0.36960	0.549000	0.26987	0.133000	0.23395	0.991000	0.31484	0.974000	0.55675	0.0:0.7424:0.0:0.2576	7.597	0.27224	935	0.14827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.000000	0.1	2977.12	36	chr13	91693274	.	C	A	2977.12	.	AC=2;AF=0.1;AN=20;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=34.62;SOR=1.721	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1154	9	1	0	0
chr13	95210694	95210694	G	C	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301830:exon4:c.C394G:p.Q132E,ABCC4:NM_001105515:exon5:c.C619G:p.Q207E,ABCC4:NM_001301829:exon5:c.C619G:p.Q207E,ABCC4:NM_005845:exon5:c.C619G:p.Q207E	.	.	.	.	.	.	.	.	0.3701	0.53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0271979909277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.08286	T	1.0	0.04477	T	0.004	0.12183	B	0.02	0.19048	B	0.000000	0.84330	D	0.054165	1	0.81001	D	0.27	0.09956	N	-2.41	0.88533	D	-0.88	0.27669	N	0.128	0.16308	-0.4029	0.71935	T	0.425	0.76856	T	10	0.24728465	0.42007	T	0.027198	0.50036	D	0.348	0.66956	0.556	0.67409	0.78952506352	0.78757	0.4265959933505734	0.42576	0.256247635266	0.28199	0.408372879028	0.26232	T	0.210039	0.57042	T	-0.0405815	0.45861	T	-0.296069	0.45139	T	0.619982063770294	0.37205	D	0.828817	0.58582	T	0.23851986	0.46731	0.22453485	0.47369	0.23851986	0.46731	0.22453485	0.47368	-2.864	0.15545	T	.	.	0.104	0.18950	B	.;.;.;.;.;.	.;.;.;.;.;.	3.278682	0.44915	22.0	0.98733016574946064	0.45378	0.94044	0.59944	D	AEFDBI	0.645472	0.62135	D	-0.317972519366309	0.28465	1.570285	-0.101634532737968	0.35326	2.042349	0.999999994584141	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	6.737000	0.74619	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.001	0.89120	818	0.41518	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1595.14	41	chr13	95210694	.	G	C	1595.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.849;DP=498;ExcessHet=0.2348;FS=3.412;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.253;SOR=0.467	GT:AD:DP:GQ:PL	0/1:46,34:80:99:701,0,1170	8	0	2	0
chr13	95633288	95633288	C	A	exonic	DZIP1	.	nonsynonymous SNV	DZIP1:NM_014934:exon6:c.G631T:p.A211S,DZIP1:NM_198968:exon6:c.G631T:p.A211S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00223617204554	.	.	0.0002	0	0.0011	0	0	9.043e-05	0.0011	0	0.0001294	20	154602	rs750389191	3.831e-05	3.831e-05	4.22e-05	3.438e-05	0.0014	3.025e-05	2.719e-05	0.0007	0.0005	0	0.0005	0	0	0	0.0014	1.529e-05	0.0001	0	1.97e-05	1.969e-05	2.57e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0.0002	0	0	0	0.0005	0	0.787	0.05668	T	0.844	0.03569	T	0.778	0.44187	P	0.28	0.40294	B	0.000032	0.55875	D	0.160014	0.942852	0.26738	N	0.755	0.19153	N	0.89	0.45636	T	0.21	0.05035	N	0.145	0.15187	-1.0576	0.12362	T	0.046	0.19800	T	10	0.089390576	0.15480	T	0.002236	0.04233	T	0.170	0.43303	0.487	0.57098	0.666050317778	0.66323	0.08021744628669977	0.07956	0.139580379967	0.15735	0.442376255989	0.30902	T	0.031526	0.22080	T	-0.451359	0.01109	T	-0.575604	0.14939	T	0.0614076852798462	0.07389	T	0.778122	0.41194	T	0.08482213	0.19650	0.07145539	0.15304	0.08482213	0.19650	0.07145539	0.15303	-2.027	0.03284	T	.	.	0.138	0.30476	B	.;.;.;.	.;.;.;.	2.753311	0.36096	20.2	0.99299474979176294	0.58577	0.76982	0.37802	D	AEFBI	0.171169	0.29812	N	-0.0982473225363523	0.37468	2.180326	0.0876847057015311	0.43928	2.684497	0.999169216325452	0.38622	0.732398	0.92422	0	0.659912	0.62753	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.496000	0.53050	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2894:0.7106:0.0:0.0	12.115	0.53162	858	0.34001	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.025862	0.000000	0.000000	0.05	1102.43	33	chr13	95633288	.	C	A	1102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.742;DP=394;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=0.067;SOR=0.99	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1301	9	0	1	0
chr13	95989982	95989982	C	T	exonic	UGGT2	.	nonsynonymous SNV	UGGT2:NM_020121:exon8:c.G922A:p.E308K	.	481	1038	3	0	0	3	0.001443	.	.	.	2341572	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.360	0.077761313079	0.0002	.	0.0002	0	0.0002	0	0	0.0003	0	0.0001	0.000207	32	154602	rs144698764	0.0005	0.0005	0.0005	0.0004	0.0017	0.0004	0.0004	0.0009	0.0007	3.016e-05	9.134e-05	7.746e-05	0	3.804e-05	0.0017	0.0005	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.551e-05	0.0003	0	0	0.0068	0.0004	0	0.0006	0.005	0.65419	D	0.009	0.66756	D	0.997	0.90584	D	0.926	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.2	0.89116	M	1.49	0.31470	T	-2.2	0.52451	N	0.637	0.72656	-0.3469	0.73643	T	0.282	0.65428	T	10	0.454093	0.58880	T	0.077761	0.72846	D	0.360	0.68052	.	.	0.407357902709	0.40350	0.7285501058951237	0.72799	0.375299811977	0.38983	0.619002223015	0.55588	T	0.014376	0.12250	T	-0.13135	0.31277	T	-0.0859029	0.64468	T	0.303142368793488	0.25133	T	0.855914	0.54393	D	0.54341054	0.69587	0.43556666	0.67038	0.54341054	0.69589	0.43556666	0.67038	-6.845	0.52893	T	.	.	0.466	0.65332	A	.;.	.;.	4.723857	0.76021	26.4	0.998889672635492	0.96359	0.94734	0.62146	D	AEFGI	0.620370	0.60546	D	0.839567151726641	0.88505	9.604193	0.772847654419577	0.87852	9.367107	0.99996777055068	0.48965	0.706298	0.61202	0	0.633656	0.55848	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	2.015000	0.40581	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.485	0.90774	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1577.43	123	chr13	95989982	.	C	T	1577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.425;DP=426;ExcessHet=0;FS=3.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.336;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	9	0	1	0
chr13	98244690	98244690	A	G	exonic	FARP1	.	nonsynonymous SNV	FARP1:NM_001001715:exon3:c.A371G:p.E124G	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0027194368953	0.0032	0.00179712	0.0031	0.0004	0.0030	0	0	0.0045	0.0066	0.0014	0.003053	472	154602	rs138672153	0.0028	0.0028	0.0027	0.0029	0.0057	0.0027	0.0027	0.0042	0.0037	0.0006	0.0030	0.0103	0	7.488e-05	0.0057	0.0030	0.0034	0.0014	0.0025	0.0025	0.0026	0.0025	0.0036	0.0023	0.0022	0.0033	0.0031	0.0008	0	0.0033	0.0089	0	0.0002	0.0034	0.0036	0.0043	0.0021	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.6	0.53731	T	-2.04	0.46842	N	0.223	0.25006	-1.0631	0.10997	T	0.059	0.24539	T	9	0.004568875	0.00095	T	0.002719	0.05608	T	0.063	0.18251	.	.	0.42748209135	0.42367	.	.	.	.	.	.	.	.	.	.	-0.586269	0.00177	T	-0.615432	0.11547	T	0.0317102496561322	0.02260	T	0.385761	0.09460	T	.	.	.	.	.	.	.	.	-3.563	0.17324	T	.	.	0.225	0.45702	B	.	.	0.957515	0.13337	9.842	0.67631131574267889	0.08412	0.07957	0.13941	N	AEFBI	0.029019	0.02662	N	-0.663294270191957	0.17074	0.8755032	-0.772392631747519	0.15173	0.7966702	0.994599896564934	0.33711	0.533608	0.22052	0	0.588015	0.36545	0	0.685742	0.62368	0	0.421255	0.06892	1	.	.	3.32	2.09	0.26154	1.199000	0.31842	2.939000	0.35656	0.691000	0.84096	0.004000	0.16614	0.057000	0.21958	0.010000	0.09038	0.7621:0.0:0.0:0.2379	5.762	0.17470	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	443.43	39	chr13	98244690	.	A	G	443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.6;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.539;SOR=0.813	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,111,1665	9	0	1	0
chr13	98435676	98435676	T	G	exonic	FARP1	.	nonsynonymous SNV	FARP1:NM_001286839:exon19:c.T2244G:p.I748M,FARP1:NM_005766:exon19:c.T2244G:p.I748M	.	.	.	.	.	.	.	.	.	.	.	3253071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0204019600925	0.0003	0.000199681	0.0003	0	8.651e-05	0	0.0002	0.0005	0	6.061e-05	0.0002975	46	154602	rs140045465	0.0003	0.0003	0.0004	0.0003	0.0016	0.0003	0.0003	0.0008	0.0006	5.974e-05	0.0002	0	0	0.0001	0.0016	0.0004	0.0003	3.478e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	4.811e-05	0	6.533e-05	0	0	0.0005	0	0.0004	0	0.0002	0.01	0.56456	D	0.021	0.70582	D	0.785	0.44430	P	0.739	0.55653	P	0.000011	0.62929	D	0.111912	0.955888	0.42605	D	1.355	0.33814	L	-0.02	0.68616	T	-1.87	0.43717	N	0.515	0.56403	-1.0185	0.24204	T	0.134	0.44856	T	10	0.11001411	0.20547	T	0.020402	0.42987	T	0.257	0.56827	.	.	0.649823028507	0.64691	0.23790702805570096	0.23704	0.525146935747	0.50192	0.503521382809	0.39318	T	0.016936	0.23116	T	-0.224625	0.17366	T	-0.211003	0.53600	T	0.0915726012379235	0.11403	T	0.848615	0.61998	T	0.24056716	0.46961	0.16245541	0.37736	0.24056716	0.46961	0.16245541	0.37735	-7.417	0.57024	T	.	.	0.132	0.28863	B	.;.;.;.	.;.;.;.	1.822511	0.23161	15.91	0.99422739888814304	0.63838	0.33704	0.24892	N	AEFDGBI	0.354687	0.44668	N	-0.37141731151452	0.26492	1.446275	-0.372766362807554	0.25812	1.421817	0.998438529241043	0.36959	0.719381	0.83141	0	0.588015	0.36545	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.8	-0.892	0.10035	-0.482000	0.06623	-0.910000	0.06958	0.665000	0.62972	0.230000	0.24643	0.010000	0.20010	0.996000	0.76049	0.1424:0.355:0.0:0.5027	6.055	0.19032	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1470.43	39	chr13	98435676	.	T	G	1470.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=417;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.346;SOR=1.086	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1109	9	0	1	0
chr13	98723926	98723926	G	T	exonic	SLC15A1	.	nonsynonymous SNV	SLC15A1:NM_005073:exon5:c.C351A:p.S117R	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0105229369843	0.0008	0.000998403	0.0003	0.0029	0.0002	0	0	0	0	0	0.0002652	41	154602	rs8187821	8.961e-05	8.961e-05	9.801e-05	8.113e-05	0.0029	7.689e-05	7.233e-05	0.0025	0.0023	0.0029	0.0001	0	0	0	0	1.349e-05	0.0002	1.159e-05	0.0007	0.0007	0.0008	0.0007	0.0025	0.0006	0.0006	0.0022	0.0020	0.0025	0	0.0004	0	0	0	0	0	0	0	0.003	0.68238	D	0.168	0.30631	T	0.464	0.36423	P	0.395	0.44317	B	0.036040	0.24572	N	0.486708	1	0.08975	N	1.5	0.37844	L	3.48	0.05130	T	-1.77	0.41809	N	0.208	0.23125	-1.0525	0.13709	T	0.026	0.11353	T	10	0.0066335797	0.00150	T	0.010523	0.27152	T	0.064	0.18567	0.202	0.11659	0.117506650769	0.11410	0.7219681298051098	0.72140	0.0557444719355	0.06166	0.292711108923	0.09318	T	0.076915	0.35532	T	-0.626257	0.00101	T	-0.675087	0.07287	T	0.0344211672033335	0.02709	T	0.80472	0.45238	T	0.19423258	0.41165	0.15163064	0.35709	0.19423258	0.41165	0.15163064	0.35708	-6.956	0.53712	T	.	.	0.224	0.45532	B	.	.	1.227510	0.16217	12.40	0.99143743061547684	0.53600	0.23274	0.22023	N	AEFDGBHCI	0.303389	0.41138	N	-0.41416828170258	0.24972	1.352229	-0.563377728569561	0.20450	1.101887	0.997467311216607	0.35646	0.533608	0.22052	0	0.59043	0.45803	0	0.685742	0.62368	0	0.584449	0.35598	0	.	.	5.65	1.9	0.24770	0.950000	0.28720	0.418000	0.18188	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.2174:0.0:0.5537:0.2289	4.928	0.13253	934	0.15400	Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1305.43	33	chr13	98723926	.	G	T	1305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.016;DP=424;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.105;SOR=0.846	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr13	99295296	99295296	G	A	exonic	GPR183	.	nonsynonymous SNV	GPR183:NM_004951:exon2:c.C850T:p.H284Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	.	0.0035	0.00399361	0.0011	0.0114	0.0007	0	0	2.998e-05	0	0	0.0010414	161	154602	rs62637588	0.0003	0.0003	0.0003	0.0002	0.0105	0.0003	0.0003	0.0096	0.0093	0.0105	0.0007	0	0	0	0.0005	6.295e-06	0.0005	1.159e-05	0.0029	0.0029	0.0032	0.0026	0.0102	0.0027	0.0026	0.0094	0.0091	0.0102	0	0.0005	0	0	0	0	1.47e-05	0.0019	0	0.074	0.34621	T	0.059	0.45961	T	0.156	0.28196	B	0.26	0.39460	B	0.099135	0.19948	N	0.555840	0.99996	0.19072	N	1.485	0.37223	L	1.24	0.36691	T	-1.13	0.29114	N	0.071	0.04426	-1.0072	0.27789	T	0.051	0.21572	T	9	0.004378438	0.00089	T	.	.	.	0.065	0.18881	.	.	0.0482279557977	0.04254	0.2914259225897653	0.29055	0.350567368242	0.36905	0.34860047698	0.17716	T	0.146236	0.48375	T	-0.657262	0.00065	T	-0.707493	0.05425	T	0.010124326655209	0.00136	T	0.542646	0.18460	T	0.054182816	0.10359	0.08088178	0.18334	0.054182816	0.10359	0.08088178	0.18334	-4.104	0.25349	T	.	.	0.138	0.30076	B	.	.	0.819203	0.11904	8.467	0.96164235378780283	0.28908	0.30001	0.23969	N	AEFDGBCI	0.103583	0.20749	N	-0.738133771750364	0.14957	0.7496279	-0.717674219132695	0.16521	0.874346	0.999999840580175	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.91	2.28	0.27583	0.454000	0.21539	2.592000	0.33474	-0.113000	0.14837	0.049000	0.21372	0.978000	0.30204	0.993000	0.69303	0.186:0.0:0.5853:0.2286	6.142	0.19480	912	0.21483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1628.43	33	chr13	99295296	.	G	A	1628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=490;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.2;SOR=0.827	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	9	0	1	0
chr13	99970463	99970463	C	T	exonic	ZIC5	.	nonsynonymous SNV	ZIC5:NM_033132:exon1:c.G1213A:p.E405K	.	58	1455	9	0	0	9	0.00308325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0011	0.000199681	0.0069	0.0010	0.0011	0.0012	0.0007	0.0098	0.0203	0.0075	0.0012548	194	154602	rs199880269	0.0026	0.0019	0.0027	0.0026	0.0046	0.0025	0.0025	0.0027	0.0026	0.0005	0.0001	0.0009	0.0001	0.0001	0.0046	0.0028	0.0019	0.0030	0.0014	0.0014	0.0016	0.0012	0.0050	0.0013	0.0012	0.0035	0.0030	0.0005	0	0.0003	0.0006	0.0002	0.0001	0	0.0023	0.0005	0.0050	0.059	0.37536	T	0.059	0.45961	T	0.065	0.23521	B	0.007	0.12992	B	.	.	.	.	0.997559	0.22611	N	0.345	0.11182	N	2.77	0.11407	T	-0.84	0.22944	N	0.166	0.17553	-1.0040	0.28755	T	0.023	0.09604	T	9	0.007351905	0.00167	T	.	.	.	0.014	0.01968	.	.	0.117506650769	0.11410	0.38630313081989737	0.38545	.	.	0.841198325157	0.88277	D	0.227547	0.59287	T	-0.652482	0.00070	T	-0.713073	0.05138	T	0.00480463601617185	0.00052	T	0.443356	0.12326	T	0.063514486	0.13382	0.11237098	0.27112	0.063514486	0.13381	0.11237098	0.27111	-10.096	0.74484	D	.	.	0.472	0.63281	A	.	.	1.558618	0.19968	14.52	0.9867283617893492	0.44498	0.41448	0.26659	N	ALL	0.073589	0.14723	N	-1.01974240837694	0.08195	0.3833698	-1.10038441961303	0.07693	0.3752261	0.999999999987698	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	3.33	0.202	0.14468	-0.365000	0.07626	0.021000	0.13590	-0.686000	0.04175	0.000000	0.06391	0.001000	0.17328	0.212000	0.22240	0.0:0.349:0.5367:0.1143	6.883	0.23365	575	0.70088	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002588	0.000000	0.002740	0.000000	0.000000	0.000000	0.000000	0.011538	0.05	150.43	23	chr13	99970463	.	C	T	150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.286;DP=292;ExcessHet=0;FS=5.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.03;ReadPosRankSum=1.74;SOR=1.492	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,866	9	0	1	0
chr13	99982726	99982726	T	C	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.T662C:p.M221T	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.0178519244245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.858e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.1	0.38742	T	0.978	0.58756	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999631	0.47961	D	2.645	0.77386	M	0.96	0.42888	T	-1.87	0.43717	N	0.763	0.76111	-0.7691	0.56907	T	0.203	0.55961	T	10	0.78815204	0.78426	D	0.017852	0.39707	T	0.259	0.57090	0.398	0.42590	0.811034351174	0.80926	0.467208398964936	0.46639	.	.	0.795973479748	0.81350	T	0.353995	0.72121	T	0.0407889	0.57148	T	-0.179186	0.56599	T	0.888951897621155	0.53961	D	0.928457	0.73631	D	0.40607628	0.61151	0.41964376	0.65952	0.40607628	0.61151	0.41964376	0.65952	-10.574	0.77271	D	.	.	0.781	0.76429	P	.	.	4.823570	0.78594	26.9	0.9367131463857612	0.23567	0.95548	0.65160	D	AEFDGBHCI	0.804071	0.72903	D	0.325505208218098	0.57460	3.913503	0.277729973607977	0.54242	3.589749	0.999999998195551	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.38	0.37806	6.224000	0.72210	7.804000	0.69231	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1454:0.0:0.0:0.8546	10.514	0.44066	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	82.43	41	chr13	99982726	.	T	C	82.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.803;DP=645;ExcessHet=0;FS=176.782;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=2.74;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,905:.	9	0	1	0
chr13	99982727	99982727	G	A	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.G663A:p.M221I	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0159184047108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.84e-07	0	1.386e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.076	0.42614	T	0.949	0.53761	P	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.645	0.77386	M	0.99	0.41750	T	-0.79	0.21860	N	0.618	0.63374	-0.7967	0.55338	T	0.210	0.57041	T	10	0.57804793	0.65692	D	0.015918	0.36914	T	0.249	0.55752	0.404	0.43573	0.83317459961	0.83158	0.3345802821426066	0.33371	.	.	0.727138459682	0.71088	T	0.196354	0.55270	T	-0.028008	0.47707	T	-0.278008	0.47008	T	0.948795557022095	0.62972	D	0.922708	0.71908	D	0.39119276	0.60117	0.36198837	0.61613	0.39119276	0.60117	0.36198837	0.61612	-6.914	0.53403	T	.	.	0.743	0.74756	P	.	.	5.261154	0.88341	29.6	0.98257091433298727	0.39630	0.96662	0.70275	D	AEFDGBHCI	0.905015	0.85602	D	0.382278794840422	0.60462	4.235318	0.351322377151365	0.58589	4.03016	0.999999999966364	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.73	0.41982	9.937000	0.98857	11.686000	0.94288	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8473:0.1527	14.014	0.64028	602	0.67834	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	394.15	41	chr13	99982727	.	G	A	394.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.838;DP=750;ExcessHet=0.2348;FS=203.067;InbreedingCoeff=-0.1113;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.35;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,905:.	8	0	2	0
chr13	100262815	100262815	G	A	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001127692:exon9:c.G725A:p.R242H,PCCA:NM_001352607:exon9:c.G725A:p.R242H,PCCA:NM_001352608:exon9:c.G725A:p.R242H,PCCA:NM_000282:exon10:c.G803A:p.R268H,PCCA:NM_001178004:exon10:c.G803A:p.R268H,PCCA:NM_001352605:exon10:c.G803A:p.R268H,PCCA:NM_001352606:exon10:c.G803A:p.R268H,PCCA:NM_001352609:exon10:c.G803A:p.R268H	Propionicacidemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	641514	Inborn_genetic_diseases|Propionic_acidemia	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.945	0.605175758285	0.0002	.	4.153e-05	0	0	0	0	6.022e-05	0	6.066e-05	3.23e-05	5	154602	rs368047060	3.201e-05	4.127e-05	3.153e-05	3.247e-05	0.0002	2.381e-05	2.143e-05	2.142e-05	1.852e-05	0	0	0.0002	0	0	0.0002	3.054e-05	3.682e-05	4.907e-05	1.979e-05	1.973e-05	2.576e-05	1.353e-05	4.415e-05	5.26e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.415e-05	0	0	0.037	0.49613	D	0.044	0.49942	D	0.999	0.77913	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.18	0.61292	M	-4.59	0.97830	D	-4.7	0.80943	D	0.972	0.98750	1.107	0.99842	D	0.954	0.98514	D	10	0.94774556	0.94103	D	0.605176	0.96536	D	0.945	0.98886	.	.	0.983277451877	0.98309	0.897013663042011	0.89672	0.682436861569	0.60108	0.826317310333	0.85998	D	0.982216	0.99865	D	0.329562	0.85135	D	0.417144	0.92653	D	0.923365950584412	0.58397	D	0.993301	0.97813	D	0.5524094	0.70089	0.4048188	0.64899	0.5524094	0.70090	0.4048188	0.64899	-9.731	0.72285	D	0.4061025079128973	0.49717	0.473	0.63333	A	.;.;.	.;.;.	5.972338	0.94225	34	0.99929739712135379	0.99279	0.99755	0.99226	D	AEFI	0.880094	0.80650	D	0.887034587530501	0.91110	10.720	0.852356810966729	0.93152	11.85771	0.999999560586849	0.74766	0.706298	0.61202	0	0.666794	0.63253	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.23	5.23	0.72570	9.234000	0.94451	11.813000	0.96995	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.785	0.91916	843	0.36859	.;.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold|Biotin carboxylation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	670.43	33	chr13	100262815	.	G	A	670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.753;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.22;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	9	0	1	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F,PCCA:NM_001352612:exon17:c.G562T:p.V188F,PCCA:NM_001127692:exon18:c.G1573T:p.V525F,PCCA:NM_001352606:exon18:c.G1507T:p.V503F,PCCA:NM_001352607:exon18:c.G1573T:p.V525F,PCCA:NM_001352610:exon18:c.G706T:p.V236F,PCCA:NM_001352611:exon18:c.G706T:p.V236F,PCCA:NM_000282:exon19:c.G1651T:p.V551F,PCCA:NM_001178004:exon19:c.G1651T:p.V551F,PCCA:NM_001352605:exon19:c.G1651T:p.V551F,PCCA:NM_001352609:exon19:c.G1651T:p.V551F	Propionicacidemia, Autosomal recessive	35	1422	60	5	0	70	0.024022	.	.	.	47470	Propionic_acidemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023162	0.015152	0.031250	0.035088	0.050000	0.008621	0.015244	0.007576	0.1	933.14	39	chr13	100368479	.	G	T	933.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.882;DP=382;ExcessHet=0.2348;FS=1.717;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.061;SOR=0.501	GT:AD:DP:GQ:PL	0/1:28,27:55:99:584,0,660	8	0	2	0
chr13	101598192	101598192	C	T	exonic	ITGBL1	.	nonsynonymous SNV	ITGBL1:NM_001271754:exon6:c.C485T:p.A162V,ITGBL1:NM_001271755:exon6:c.C761T:p.A254V,ITGBL1:NM_001271756:exon6:c.C629T:p.A210V,ITGBL1:NM_004791:exon7:c.C908T:p.A303V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.014174158725	0.0010	.	0.0018	0.0002	0.0005	0	0.0035	0.0028	0	6.062e-05	0.0016494	255	154602	rs150262172	0.0018	0.0018	0.0018	0.0019	0.0019	0.0018	0.0018	0.0018	0.0018	0.0001	0.0009	0.0096	0	0.0040	0	0.0019	0.0022	3.479e-05	0.0015	0.0015	0.0017	0.0014	0.0025	0.0014	0.0013	0.0019	0.0016	0.0002	0	0.0025	0.0084	0	0.0021	0	0.0020	0.0014	0	0.237	0.18562	T	0.258	0.23164	T	0.0	0.02946	B	0.005	0.11217	B	0.002957	0.35672	N	0.322570	0.999967	0.19486	N	1.1	0.28011	L	-3.82	0.95761	D	-1.91	0.53736	N	0.228	0.25622	-0.2010	0.77645	T	0.692	0.89382	D	10	0.00923425	0.00209	T	0.014174	0.34105	T	0.227	0.52620	.	.	0.300784259202	0.29686	0.14540770565945174	0.14463	0.199258263272	0.22323	0.263066351414	0.05260	T	0.033243	0.23326	T	-0.354397	0.04457	T	-0.286147	0.46172	T	0.00848285172660338	0.00103	T	0.781022	0.41604	T	0.056171395	0.11017	0.07214399	0.15532	0.056171395	0.11016	0.07214399	0.15531	-4.858	0.35259	T	.	.	0.071	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.926174	0.13010	9.517	0.93760878446078055	0.23707	0.07863	0.13854	N	AEFGBI	0.052939	0.09495	N	-0.984979533264179	0.08923	0.4203153	-0.955637542929792	0.10792	0.5458765	0.996270559784449	0.34636	0.693126	0.56070	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	-0.424	0.11707	0.756000	0.26084	-0.738000	0.07632	-0.773000	0.03420	0.202000	0.24332	0.000000	0.08366	0.890000	0.42831	0.2028:0.3682:0.0:0.429	5.151	0.14337	951	0.11083	EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;EGF-like domain, extracellular|EGF-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1090.43	89	chr13	101598192	.	C	T	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.166;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-1.081;SOR=0.644	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr13	102690880	102690880	C	G	exonic	METTL21C	.	nonsynonymous SNV	METTL21C:NM_001010977:exon2:c.G215C:p.R72P	.	430	1039	51	2	0	55	0.0257853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0071	0.00359425	0.0100	0.0012	0.0016	0.0001	0.0204	0.0113	0.0165	0.0170	0.0094501	1461	154602	rs149948690	0.0092	0.0092	0.0088	0.0096	0.0190	0.0091	0.0090	0.0182	0.0179	0.0014	0.0020	0.0036	2.519e-05	0.0190	0.0147	0.0090	0.0089	0.0190	0.0065	0.0065	0.0061	0.0070	0.0155	0.0062	0.0061	0.0127	0.0117	0.0018	0.0187	0.0021	0.0040	0	0.0158	0.0068	0.0089	0.0043	0.0155	0.197	0.20607	T	0.197	0.27855	T	0.431	0.35606	B	0.071	0.27960	B	0.025462	0.01631	N	1.963520	1	0.08975	N	1.04	0.26193	L	2.51	0.14284	T	-1.77	0.41809	N	0.291	0.32921	-1.0349	0.18888	T	0.013	0.04843	T	10	0.0050058663	0.00108	T	.	.	.	0.047	0.12962	.	.	.	.	0.7297983950850847	0.72924	0.113194095826	0.12776	0.194922536612	0.00325	T	0.021721	0.16866	T	-0.693516	0.00040	T	-0.754684	0.03307	T	0.00500844983931811	0.00054	T	0.493251	0.15238	T	0.81374246	0.84801	0.3472523	0.60382	0.81374246	0.84803	0.3472523	0.60381	-7.212	0.55568	T	.	.	0.344	0.56185	A	.	.	0.401928	0.07729	4.411	0.94050410969188059	0.24177	0.07920	0.13907	N	AEFBCI	0.143530	0.26625	N	-1.06908644187949	0.07219	0.3346629	-1.10916156895534	0.07524	0.3663372	0.999367551965747	0.39301	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	-4.69	0.03061	-1.033000	0.03682	-2.694000	0.03459	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.1814:0.4624:0.0807:0.2755	3.606	0.07586	942	0.12992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010574	0.010101	0.001359	0.011696	0.000000	0.000000	0.021341	0.022727	0.05	2260.43	233	chr13	102690880	.	C	G	2260.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.691;DP=548;ExcessHet=0;FS=7.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=-0.008;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	9	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	492.36	185	chr13	102737670	.	C	G	492.36	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.067;DP=1484;ExcessHet=0.7463;FS=269.879;InbreedingCoeff=-0.3415;MLEAC=4;MLEAF=0.333;MQ=59.99;MQRankSum=0;QD=1.03;ReadPosRankSum=1.97;SOR=10.375	GT:AD:DP:GQ:PL	./.:97,0:97:0:0,0,2255	3	0	3	4
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	184.94	208	chr13	102738219	.	C	G	184.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-4.991;DP=1624;ExcessHet=0.2348;FS=285.28;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.47;ReadPosRankSum=2.32;SOR=10.656	GT:AD:DP:GQ:PL	./.:103,0:103:0:0,0,2158	4	0	2	4
chr13	102740391	102740391	G	A	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C10306T:p.R3436W	.	424	1046	49	3	0	55	0.0256171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0157	0.0023	0	0	0	0.0072	0.0105	0.0306	0.0032794	507	154602	rs117074021	0.0094	0.0090	0.0087	0.0101	0.0299	0.0092	0.0092	0.0289	0.0285	0.0015	0.0038	0.0013	2.8e-05	0.0058	0.0208	0.0088	0.0099	0.0299	0.0060	0.0060	0.0063	0.0057	0.0237	0.0057	0.0055	0.0202	0.0188	0.0016	0	0.0042	0.0009	0.0004	0.0044	0.0238	0.0088	0.0043	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.0030212104	0.00049	T	.	.	.	.	.	.	.	.	.	0.0961978917482667	0.09551	.	.	0.254358440638	0.04241	T	.	.	.	-0.526409	0.00403	T	-0.507297	0.21594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27880	B	.	.	1.077765	0.14608	11.17	0.57589132933474618	0.05803	0.00835	0.03355	N	AEFBI	.	.	.	.	.	.	.	.	.	0.799362739752337	0.24158	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0503841	0.09711	3.58	1.15	0.19876	-0.032000	0.12217	-0.419000	0.09297	-0.785000	0.03297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.0:0.2288:0.5756	4.231	0.10056	951	0.11083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021021	0.006579	0.000000	0.024272	0.000000	0.071429	0.043478	0.031250	0.05	1555.43	122	chr13	102740391	.	G	A	1555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.82;DP=932;ExcessHet=0;FS=4.079;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.354;SOR=0.429	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	9	0	1	0
chr13	102742972	102742972	-	T	exonic	CCDC168	.	frameshift insertion	CCDC168:NM_001146197:exon4:c.7724dupA:p.N2575Kfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0	0	0	0	0	0.0001	0.0002689	7	26028	rs756634631	4.465e-05	4.583e-05	4.258e-05	4.677e-05	0.0004	3.554e-05	3.226e-05	6.22e-05	3.488e-05	3.26e-05	2.977e-05	0	2.807e-05	0	0.0004	4.932e-05	0	5.158e-05	3.956e-05	3.942e-05	2.579e-05	5.396e-05	0.0002	1.72e-05	1.133e-05	1.977e-05	1.128e-05	2.415e-05	0	0	0	0.0002	0	0	5.9e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1291.39	122	chr13	102742972	.	G	GT	1291.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.752;DP=1016;ExcessHet=0;FS=2.321;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=1.92;SOR=0.509	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	9	0	1	0
chr13	102743139	102743139	G	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C7558G:p.L2520V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1241466537	2.86e-06	2.736e-06	4.233e-06	1.45e-06	0.0001	6.7e-07	4.5e-07	3.809e-05	2.257e-05	0	0	0	0.0001	0	0	0	0	0	6.582e-06	6.569e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.053364754	0.05516	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.025784513111167806	0.02529	.	.	0.219660788774	0.01290	T	.	.	.	-0.38673	0.02823	T	-0.492963	0.23080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.19276	B	.	.	-0.387249	0.02261	0.233	0.50264816979790827	0.04354	0.00952	0.03663	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999151899302783	0.38592	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0534285	0.11854	3.52	-5.53	0.02351	-1.612000	0.02163	-2.368000	0.03842	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.3409:0.0:0.2274:0.4317	3.309	0.06598	943	0.12886	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2844.43	265	chr13	102743139	.	G	C	2844.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.347;DP=1147;ExcessHet=0;FS=4.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.817;SOR=0.499	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	9	0	1	0
chr13	102767470	102767470	T	C	exonic	TEX30	.	nonsynonymous SNV	TEX30:NM_001286776:exon4:c.A184G:p.M62V,TEX30:NM_138779:exon5:c.A307G:p.M103V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.0424668726681	7.7e-05	0.00119808	0.0002	9.909e-05	0.0003	0.0011	0	0.0001	0	0.0003	0.0002264	35	154602	rs200314758	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	8.962e-05	0.0004	0	0.0009	1.875e-05	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	0.0023	0.0002	0.0002	0.0013	0.0010	4.811e-05	0	0.0001	0	0.0023	0	0	0.0002	0	0.0012	0.0	0.91255	D	0.025	0.60972	D	0.998	0.73220	D	0.963	0.70837	D	0.000000	0.84330	D	0.000000	0.999978	0.81001	D	3.095	0.87515	M	1.88	0.23884	T	-3.36	0.66549	D	0.896	0.90590	-0.6750	0.61602	T	0.189	0.53960	T	10	0.08807486	0.15131	T	0.042467	0.60478	D	0.506	0.78724	.	.	0.441636318388	0.43783	0.5225612372426169	0.52179	0.702450646046	0.61212	0.566913366318	0.48242	T	0.199831	0.55722	T	-0.0452379	0.45167	T	0.137615	0.79391	D	0.289840734832763	0.24583	T	0.908809	0.68490	D	0.7294583	0.79693	0.78636575	0.87421	0.7294583	0.79694	0.78636575	0.87421	-10.578	0.77294	D	.	.	0.790	0.76814	P	.;.;.	.;.;.	4.541693	0.71388	25.7	0.99500399415124563	0.67973	0.98740	0.86245	D	AEFGBI	0.784222	0.71497	D	0.783548344995981	0.85067	8.466698	0.7351903281527	0.85045	8.465477	0.999999976908747	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696353	0.63694	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	6.163000	0.71702	5.063000	0.47105	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.521	0.75604	945	0.12563	Dienelactone hydrolase;Dienelactone hydrolase;Dienelactone hydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	611.43	32	chr13	102767470	.	T	C	611.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.081;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.12;SOR=0.6	GT:AD:DP:GQ:PL	0/0:31,0:31:51:0,51,765	9	0	1	0
chr13	107866338	107866338	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.258_259insCAG:p.Q86_R87insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	.	0.0091	0.0050	0.0086	0.0013	0.0041	0.0124	0.0060	0.0061	0.0029199	76	26028	rs775886294	0.0085	0.0085	0.0086	0.0085	0.0271	0.0084	0.0083	0.0236	0.0222	0.0040	0.0083	0.0179	0.0012	0.0040	0.0271	0.0090	0.0108	0.0051	0.0081	0.0080	0.0085	0.0076	0.0123	0.0077	0.0075	0.0109	0.0103	0.0038	0.0518	0.0123	0.0165	0.0022	0.0039	0.0139	0.0098	0.0110	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	904.39	35	chr13	107866338	.	T	TCTG	904.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.518;DP=395;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-0.084;SOR=0.914	GT:AD:DP:GQ:PL	0/1:29,25:56:99:916,0,1106	9	0	1	0
chr13	107866499	107866499	T	A	exonic	FAM155A	.	nonsynonymous SNV	FAM155A:NM_001080396:exon1:c.A98T:p.E33V	.	403	1116	3	0	0	3	0.00134228	.	.	.	3565109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.448	0.0247541079638	.	.	8.258e-05	0	0.0002	0	0	0.0001	0	0	6.47e-05	10	154602	rs755049158	6.499e-05	6.498e-05	5.99e-05	7.013e-05	0.0021	5.428e-05	5.042e-05	0.0012	0.0009	2.987e-05	0.0002	0	0	1.875e-05	0.0021	4.766e-05	0.0002	6.956e-05	7.901e-05	7.884e-05	6.436e-05	9.435e-05	0.0001	4.505e-05	3.519e-05	5.849e-05	4.244e-05	4.835e-05	0	0.0001	0	0	0	0	0.0001	0	0	0.0	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.999815	0.49394	D	0.975	0.24501	L	.	.	.	-3.51	0.68298	D	0.9	0.90025	-0.3937	0.72225	T	0.321	0.69004	T	9	0.67577934	0.70982	D	0.024754	0.47746	T	0.448	0.74935	0.314	0.28935	0.540005531159	0.53652	0.6209453495671061	0.62027	1.35953395001	0.84282	0.685852825642	0.65109	T	0.176757	0.52681	T	0.23216	0.76924	D	0.380419	0.91443	D	0.853822946548462	0.50499	D	0.919408	0.70943	D	0.70559084	0.78364	0.5778908	0.75540	0.70559084	0.78365	0.5778908	0.75541	-2.877	0.08915	T	.	.	0.958	0.87767	P	.	.	5.049429	0.84098	28.2	0.9918101550552425	0.54672	0.95628	0.65485	D	AEFDGBHCI	0.920941	0.89366	D	0.687886232896114	0.78839	6.953039	0.676842277480445	0.80624	7.340314	0.999999999999898	0.74766	0.685219	0.55550	0	0.563428	0.19063	0	0.674405	0.61402	0	0.372554	0.06265	0	.	.	5.13	5.13	0.69729	7.363000	0.78773	7.751000	0.68142	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.132	0.64793	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1443.43	35	chr13	107866499	.	T	A	1443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=453;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-1.75;SOR=0.624	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1455,0,1144	9	0	1	0
chr13	108820362	108820362	T	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon8:c.T893A:p.M298K,MYO16:NM_015011:exon8:c.T827A:p.M276K	.	431	1079	11	1	0	13	0.00598802	.	.	.	702573	not_provided|MYO16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.106	.	0.0010	0.0061901	0.0095	0.0015	0.0688	0	0	0.0020	0.0037	0.0084	0.0052069	805	154602	rs149704651	0.0025	0.0026	0.0025	0.0026	0.0391	0.0025	0.0024	0.0376	0.0369	0.0007	0.0391	0.0036	5.144e-05	1.888e-05	0.0042	0.0009	0.0031	0.0072	0.0048	0.0048	0.0042	0.0055	0.0374	0.0045	0.0044	0.0348	0.0338	0.0011	0	0.0374	0.0040	0.0002	0	0.0034	0.0009	0.0038	0.0062	0.692	0.04277	T	0.911	0.02952	T	0.007	0.14184	B	0.005	0.11217	B	0.205379	0.16496	U	0.486578	0.819851	0.28896	N	-1.585	0.00443	N	0.04	0.62051	T	0.22	0.15578	N	0.515	0.56489	-1.1138	0.02763	T	0.035	0.15160	T	9	0.0034356713	0.00060	T	.	.	.	0.106	0.30130	.	.	0.27715347029	0.27323	0.5134021084500362	0.51262	0.286963924779	0.31096	0.455572128296	0.32704	T	0.002097	0.04028	T	-0.451041	0.01114	T	-0.390678	0.34471	T	0.00666718737543767	0.00075	T	.	.	.	0.132447	0.30839	0.1200902	0.28984	0.15821064	0.35606	0.1200902	0.28983	-3.239	0.12963	T	.	.	0.112	0.21950	B	.;.;.;.	.;.;.;.	0.935500	0.13111	9.612	0.7729512424577818	0.11817	0.67240	0.33361	D	AEFGI	0.157255	0.28274	N	-0.698731353460946	0.16058	0.8147977	-0.492521327989118	0.22359	1.214038	0.118286412907885	0.16820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.185000	0.16767	0.417000	0.18177	0.665000	0.62972	0.795000	0.29657	0.846000	0.27345	0.978000	0.57271	0.0:0.1541:0.0:0.8459	7.787	0.28259	906	0.23090	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003024	0.000000	0.004076	0.000000	0.100000	0.000000	0.000000	0.003817	0.05	1373.43	44	chr13	108820362	.	T	A	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=508;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.86;SOR=0.764	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	9	0	1	0
chr13	109141245	109141245	C	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon32:c.C5033A:p.P1678H,MYO16:NM_015011:exon32:c.C4967A:p.P1656H	.	425	1093	4	0	0	4	0.00182648	.	.	.	3211092	MYO16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0004	0.0211661	0.0102	0.0020	0.0417	0.0654	0.0059	0.0004	0.0040	0.0023	0.0089585	1385	154602	rs116870463	0.0037	0.0038	0.0040	0.0035	0.0678	0.0036	0.0036	0.0657	0.0648	0.0011	0.0424	0.0001	0.0678	0.0055	0.0016	9.743e-05	0.0047	0.0024	0.0071	0.0072	0.0059	0.0084	0.0728	0.0068	0.0066	0.0667	0.0644	0.0017	0	0.0349	0	0.0728	0.0062	0	0.0002	0.0061	0.0023	0.001	0.78490	D	0.004	0.74150	D	0.8	0.44988	P	0.436	0.45556	B	0.386079	0.13321	U	0.608816	1	0.08975	N	1.59	0.40313	L	0.14	0.60854	T	-1.7	0.40468	N	0.098	0.12770	-1.1245	0.02065	T	0.018	0.07565	T	9	0.0019471645	0.00027	T	.	.	.	0.193	0.47281	.	.	.	.	0.04993532709084997	0.04936	1.30891436969	0.83166	0.395048320293	0.24378	T	0.007046	0.17018	T	-0.544484	0.00315	T	-0.49571	0.22793	T	0.0513821160435711	0.05741	T	.	.	.	0.13216352	0.30783	0.22196105	0.47024	0.14883794	0.33960	0.22196105	0.47023	-5.629	0.43057	T	0.18133802164678425	0.23377	0.121	0.30238	B	.;.;.	.;.;.	2.926884	0.38873	20.8	0.99179443557318525	0.54643	0.97463	0.74912	D	AEFDBI	0.523063	0.54682	D	-0.0200675543879008	0.40947	2.440652	-0.068258345123062	0.36710	2.139921	0.999999998571309	0.74766	0.59774	0.34471	0	0.657636	0.61667	0	0.578056	0.29568	0	0.63947	0.58350	0	.	.	4.93	4.07	0.46726	5.439000	0.66307	0.323000	0.17205	0.545000	0.25583	0.961000	0.33663	0.001000	0.17328	0.003000	0.05239	0.0:0.915:0.0:0.085	11.752	0.51119	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	880.43	67	chr13	109141245	.	C	A	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.187;DP=628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-1.632;SOR=0.598	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr13	110456941	110456941	-	GTG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.783_784insCAC:p.Q261_G262insH	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	9.39e-05	0.0001	0.0001	0.0002	0.0001	0.0001	9.816e-05	8.405e-05	0.0002	0.0001	0.0004	0.0001	0.0001	0	0.0001	0.0001	0.0001	0.0009	0.0012	0.0010	0.0008	0.0011	0.0007	0.0007	0.0009	0.0008	0.0008	0	0.0006	0.0012	0.0005	0.0006	0	0.0011	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1073.39	27	chr13	110456941	.	C	CGTG	1073.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.01;DP=492;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.06;MQRankSum=4.56;QD=12.93;ReadPosRankSum=2;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,108,1620:.	9	0	1	0
chr13	110456942	110456942	-	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAC:p.Q261delinsHGISPTDAWGPTQT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0002	0.0003	0.0003	0.0008	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0009	0.0002	0.0002	0	0.0002	0.0001	0.0003	0.0006	0.0008	0.0005	0.0007	0.0011	0.0004	0.0004	0.0005	0.0004	0.0009	0	0.0011	0.0008	0.0005	0.0003	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2340.05	20	chr13	110456942	.	C	CGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	2340.05	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.26;DP=475;ExcessHet=2.5225;FS=8.983;InbreedingCoeff=-0.3156;MLEAC=1;MLEAF=0.1;MQ=52.02;MQRankSum=4.13;QD=12.72;ReadPosRankSum=-2.814;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:42,0:42:0:.:.:0,0,0:.	4	0	1	5
chr13	110457135	110457135	-	C	exonic	COL4A2-AS2	.	frameshift insertion	COL4A2-AS2:NM_001267044:exon5:c.589dupG:p.D197Gfs*177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0001	0	0.0062	0	0	0	0	0	0.0003074	8	26028	rs540909253	0.0142	0.0066	0.0140	0.0145	0.0188	0.0139	0.0137	0.0182	0.0179	0.0041	0.0034	0.0075	0.0010	0.0079	0.0080	0.0188	0.0123	0.0180	0.0025	0.0031	0.0030	0.0020	0.0034	0.0021	0.0020	0.0028	0.0025	0.0014	0.0106	0.0020	0.0021	0.0011	0.0006	0	0.0034	0.0116	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	228.04	18	chr13	110457135	.	T	TC	228.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.805;DP=349;ExcessHet=0;FS=1.958;MLEAC=1;MLEAF=0.056;MQ=44.74;MQRankSum=-2.754;QD=12.67;ReadPosRankSum=2.86;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	8	0	1	1
chr13	110457177	110457177	C	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.548delG:p.G183Dfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	32.81	7	chr13	110457176	.	TC	T	32.81	.	AC=1;AF=0.056;AN=18;DP=330;ExcessHet=0;FS=0;InbreedingCoeff=-0.0815;MLEAC=1;MLEAF=0.056;MQ=44.05;QD=4.69;SOR=0.223	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,109,1249	8	0	1	1
chr13	110457193	110457193	C	G	exonic	COL4A2-AS2	.	nonsynonymous SNV	COL4A2-AS2:NM_001267044:exon5:c.G532C:p.G178R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs9588171	0.0001	0.0012	6.902e-05	0.0002	0.0003	8.574e-05	7.405e-05	0.0001	0.0001	0	5.633e-05	0	0	0	0	0.0001	8.924e-05	0.0003	7.003e-05	6.326e-05	0.0001	0	0.0002	1.857e-05	1.015e-05	1.751e-05	7.17e-06	0	0	0.0002	0	0	0	0	9.99e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	55.89	1	chr13	110457193	.	C	G	55.89	.	AC=1;AF=0.083;AN=12;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.1774;MLEAC=1;MLEAF=0.083;MQ=44.42;QD=32.71;SOR=0.223	GT:AD:DP:GQ:PL	./.:28,0:28:0:0,0,396	5	0	1	4
chr13	110457280	110457280	-	GTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGT	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.444_445insACAGGGCATGAGCCCCACGGACGCCTGGGGTCCCACGCAGAC:p.D148_A149insTGHEPHGRLGSHAD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1648.39	104	chr13	110457280	.	C	CGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGT	1648.39	.	AC=1;AF=0.05;AN=20;DP=848;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.36;QD=28.53;SOR=0.693	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	9	0	1	0
chr13	110457378	110457378	G	A	exonic	COL4A2	.	nonsynonymous SNV	COL4A2:NM_001846:exon21:c.G1375A:p.A459T	Porencephaly 2, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	327368	COL4A2-related_disorder|Inborn_genetic_diseases|not_provided|Porencephaly_2	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013773,MedGen:C3280970,OMIM:614483,Orphanet:2940,Orphanet:99810	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.228	0.124901959827	0.0026	0.000798722	0.0021	0.0009	0.0011	0	0.0011	0.0030	0.0036	0.0015	0.0019987	309	154602	rs202017641	0.0025	0.0025	0.0025	0.0025	0.0030	0.0024	0.0024	0.0029	0.0029	0.0004	0.0009	3.826e-05	0	0.0005	0.0024	0.0030	0.0020	0.0014	0.0018	0.0018	0.0019	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0009	0	0.0013	0	0	0.0005	0.0034	0.0030	0.0009	0.0021	0.596	0.05703	T	0.473	0.12142	T	0.02	0.18235	B	0.026	0.20792	B	0.553618	0.05384	N	1.332560	1	0.08975	N	0.145	0.08828	N	-2.73	0.90679	D	-0.2	0.10136	N	0.126	0.11912	-0.6493	0.62745	T	0.472	0.79700	T	10	0.03696385	0.02024	T	0.124902	0.80634	D	0.228	0.52768	.	.	0.473378105536	0.46967	0.19865148246700812	0.19782	0.823727238072	0.67295	0.340907931328	0.16574	T	0.294046	0.66674	T	-0.463607	0.00933	T	-0.442081	0.28576	T	0.00186051714047829	0.00019	T	0.79692	0.44048	T	0.024179742	0.01224	0.039879963	0.04183	0.024179742	0.01224	0.039879963	0.04183	-4.175	0.26388	T	0.08002028601118295	0.03997	0.073	0.04764	B	.	.	0.293702	0.06700	3.204	0.77741032790462505	0.12003	0.06253	0.12243	N	AEFDBI	0.089192	0.18079	N	-1.59384580610068	0.01295	0.05640923	-1.55214310564758	0.01961	0.08954632	0.998780717387356	0.37667	0.67177	0.52595	0	0.547309	0.14657	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.52	1.61	0.22752	0.412000	0.20852	0.458000	0.18589	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0876:0.3746:0.5378:0.0	9.687	0.39268	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.017241	0.003049	0.000000	0.05	2431.43	104	chr13	110457378	.	G	A	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=904;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.626;SOR=0.979	GT:AD:DP:GQ:PL	0/0:72,0:72:99:0,120,1800	9	0	1	0
chr13	110719251	110719251	G	C	exonic	ING1	.	nonsynonymous SNV	ING1:NM_001267728:exon2:c.G108C:p.E36D,ING1:NM_005537:exon2:c.G588C:p.E196D,ING1:NM_198217:exon2:c.G27C:p.E9D,ING1:NM_198219:exon2:c.G159C:p.E53D	Squamous cell carcinoma, head and neck, somatic	8	1509	4	1	0	6	0.00198413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00633789217804	0.0005	0.000599042	0.0009	0	0.0003	0	0	0.0010	0	0.0020	0.0007115	110	154602	rs138276642	0.0005	0.0005	0.0004	0.0005	0.0020	0.0005	0.0004	0.0017	0.0016	0	6.708e-05	0.0134	0	0	0.0012	9.083e-05	0.0013	0.0020	0.0005	0.0005	0.0005	0.0006	0.0021	0.0004	0.0004	0.0011	0.0009	0	0	0	0.0182	0	0	0	0.0001	0	0.0021	1.0	0.16738	T	0.895	0.15602	T	0.0	0.02946	B	0.002	0.06944	B	0.003665	0.34636	N	0.332010	1	0.81001	D	.	.	.	0.84	0.47477	T	0.04	0.10308	N	0.111	0.09772	-0.9697	0.37262	T	0.045	0.19275	T	10	0.003244102	0.00055	T	0.006338	0.16668	T	0.024	0.04979	0.338	0.32816	0.254244900254	0.25046	0.05736288601001435	0.05677	1.03796569451	0.75674	0.530464112759	0.43100	T	0.025902	0.19278	T	-0.645014	0.00078	T	-0.706558	0.05475	T	0.0160968410488355	0.00387	T	0.806819	0.45805	T	.	.	.	.	.	.	.	.	-3.995	0.23729	T	.	.	0.056	0.09288	B	.;.;.;.	.;.;.;.	-0.505994	0.01848	0.148	0.1955308789083853	0.00665	0.09699	0.15396	N	AEFDBCI	0.044636	0.07205	N	-1.41968783469531	0.02466	0.1089312	-1.4647385711663	0.02639	0.1217504	0.999999890866248	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	5.13	-6.52	0.01703	-1.070000	0.03551	-3.663000	0.02622	0.526000	0.24426	0.017000	0.19353	0.000000	0.08366	0.351000	0.25682	0.1068:0.6016:0.1721:0.1195	8.676	0.33343	982	0.03397	.;.;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding;Inhibitor of growth protein, N-terminal histone-binding|Inhibitor of growth protein, N-terminal histone-binding	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1227.43	41	chr13	110719251	.	G	C	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.371;DP=446;ExcessHet=0;FS=2.325;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=3.22;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr13	112068448	112068448	G	A	exonic	SOX1	.	nonsynonymous SNV	SOX1:NM_005986:exon1:c.G790A:p.G264S	.	413	1093	16	0	0	16	0.00726612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0010	0.00179712	0.0071	0	0.0109	0	.	0.0075	0	0.0076	0.0007115	110	154602	rs147042049	0.0025	0.0023	0.0023	0.0027	0.0079	0.0024	0.0024	0.0073	0.0071	0.0001	0.0029	0.0118	0	0.0004	0.0060	0.0021	0.0028	0.0079	0.0025	0.0025	0.0028	0.0022	0.0068	0.0023	0.0022	0.0049	0.0043	0.0006	0	0.0039	0.0136	0	0.0006	0.0070	0.0028	0.0040	0.0068	0.867	0.02625	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.10090	B	0.000326	0.45700	U	0.139620	0.807121	0.29045	N	-0.45	0.02807	N	-4.19	0.96908	D	1.32	0.00925	N	0.084	0.06059	-0.4489	0.70437	T	0.332	0.69935	T	10	0.007835627	0.00178	T	.	.	.	0.261	0.57352	.	.	0.528210255337	0.52467	0.6489449060296282	0.64830	.	.	0.885459065437	0.94683	D	0.094968	0.39524	T	-0.376152	0.03294	T	-0.308527	0.43817	T	0.0173541864254784	0.00474	T	0.819218	0.47714	T	0.07884808	0.17980	0.11499521	0.27759	0.07884808	0.17979	0.11499521	0.27758	-2.37	0.04952	T	.	.	0.087	0.11317	B	.	.	2.343329	0.30033	18.31	0.98033999826850471	0.37735	0.26088	0.22891	N	AEFDBCI	0.045882	0.07554	N	-0.790300316412739	0.13562	0.6690024	-0.645549209093007	0.18329	0.9786565	0.912394719801057	0.26394	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	2.44	1.56	0.22423	0.619000	0.24083	5.518000	0.48815	0.433000	0.20966	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.2475:0.0:0.7525:0.0	6.238	0.19983	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007812	0.000000	0.009434	0.010417	0.000000	0.000000	0.000000	0.015625	0.05	542.43	35	chr13	112068448	.	G	A	542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.271;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.08;SOR=0.793	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1060	9	0	1	0
chr13	112547518	112547547	CGCGCGTGGGAAAGACGTGCATGGGAAAGT	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1241_1270del:p.D414_R423del	.	440	1071	10	1	0	12	0.00557103	.	.	.	2814050	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	0.0063	0.0010	0.0011	0.0036	0.0018	0	0.0096	3.84e-05	1	26028	rs1464179058	0.0017	0.0016	0.0017	0.0017	0.0064	0.0016	0.0016	0.0058	0.0055	0.0022	0.0007	0.0001	9.457e-05	0.0026	0.0058	0.0015	0.0028	0.0064	0.0020	0.0020	0.0017	0.0024	0.0050	0.0018	0.0018	0.0034	0.0029	0.0024	0	0.0021	0	0.0008	0.0038	0.0034	0.0015	0.0033	0.0050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3714.01	204	chr13	112547517	.	ACGCGCGTGGGAAAGACGTGCATGGGAAAGT	A	3714.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.12;DP=1028;ExcessHet=0;FS=4.502;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=-0.297;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1225:.	8	0	1	1
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	12824.1	179	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	*	12824.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.227;DP=1296;ExcessHet=0.6204;FS=0.52;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.281;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1225:.	9	0	1	0
chr13	112547564	112547564	G	0	exonic	TUBGCP3	.	.	.	.	436	917	58	3	108	172	0.0337197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2756.74	201	chr13	112547564	.	G	*	2756.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.59;DP=1056;ExcessHet=0.7463;FS=0.533;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.468;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1225:.	8	0	2	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3640.74	36	chr13	112547565	.	C	*	3640.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.18;DP=908;ExcessHet=0.7463;FS=0.531;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=-0.243;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1225:.	8	0	2	0
chr13	112547598	112547598	G	A	exonic	TUBGCP3	.	nonsynonymous SNV	TUBGCP3:NM_001286279:exon10:c.C1190T:p.T397M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-05	0.0003	0	0	0	0.0001	0	0	8.41e-05	13	154602	rs770899850	7.125e-05	9.039e-05	7.757e-05	6.471e-05	0.0004	5.94e-05	5.513e-05	7.347e-05	6.258e-05	3.589e-05	3.781e-05	0	0	0	0.0004	8.214e-05	7.508e-05	1.503e-05	0.0001	0.0003	0.0002	0.0001	0.0003	9.908e-05	8.398e-05	0.0001	0.0001	0.0003	0	6.604e-05	0	0	0	0	0.0001	0	0.0002	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.069	0.04188	.	.	.	.	.	.	.	0.051564485	0.05056	T	.	.	.	.	.	.	.	0.189391138174	0.18552	.	.	.	.	.	.	.	0.011851	0.10509	T	-0.463508	0.00934	T	-0.903574	0.00478	T	.	.	.	0.350365	0.07800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.22753	B	.	.	0.295483	0.06715	3.223	0.88629861284652589	0.18128	0.00152	0.00917	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.790462036562553	0.24006	0.156188	0.03335	0	0.156173	0.03658	0	0.125526	0.03468	0	0.117559	0.03655	0	0.0483959	0.07925	1.44	1.44	0.21647	-0.047000	0.11917	1.017000	0.23376	0.000000	0.17513	0.388000	0.26071	0.361000	0.24521	0.097000	0.18139	0.7665:0.0:0.2335:0.0	3.406	0.06917	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1283.19	36	chr13	112547598	.	G	A	1283.19	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.04;DP=775;ExcessHet=0;FS=3.199;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=1.87;SOR=0.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1225:.	8	0	1	1
chr13	113403869	113403869	-	ACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCA	exonic	LOC101928841	.	nonframeshift insertion	LOC101928841:NM_001304433:exon2:c.4320_4321insTGGGAGCAGACCCACATAGAGGCTCAGGGTCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGT:p.G1440_R1441insWEQTHIEAQGQTQKGAQERAWEQG,LOC101928841:NM_001375393:exon2:c.4320_4321insTGGGAGCAGACCCACATAGAGGCTCAGGGTCAGACCCAGAAAGGGGCTCAGGAACGGGCTTGGGAACAGGGT:p.G1440_R1441insWEQTHIEAQGQTQKGAQERAWEQG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.883e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.167e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	869.56	210	chr13	113403869	.	G	GACCCTGTTCCCAAGCCCGTTCCTGAGCCCCTTTCTGGGTCTGACCCTGAGCCTCTATGTGGGTCTGCTCCCA	869.56	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.898;DP=1940;ExcessHet=0;FS=20.006;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.5;MQ=59.64;MQRankSum=-1.155;QD=4.41;ReadPosRankSum=-8.634;SOR=2.318	GT:AD:DP:GQ:PL	./.:161,0:161:0:0,0,2673	1	0	1	8
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3039.97	295	chr13	113404039	.	G	*	3039.97	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.336;DP=2185;ExcessHet=1.5895;FS=2.601;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.111;MQ=59.01;MQRankSum=-0.592;QD=4.68;ReadPosRankSum=0.702;SOR=0.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:215:99:.:.:1399,1817,5538:.	7	0	2	1
chr13	113405323	113405323	G	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.C2867T:p.A956V,LOC101928841:NM_001375393:exon2:c.C2867T:p.A956V	.	935	572	13	2	0	17	0.0146425	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	.	.	.	.	.	.	.	.	0.009144	238	26028	rs117605449	0.0115	0.0088	0.0114	0.0116	0.0159	0.0113	0.0112	0.0144	0.0139	0.0010	0.0077	0.0105	0.0001	0.0048	0.0082	0.0122	0.0105	0.0159	0.0074	0.0074	0.0075	0.0072	0.0178	0.0070	0.0069	0.0148	0.0137	0.0020	0	0.0061	0.0081	0	0.0057	0.0034	0.0110	0.0099	0.0178	.	.	.	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0036976635	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017884	0.14511	T	.	.	.	.	.	.	.	.	.	0.458954	0.13262	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31783	B	.	.	0.495224	0.08645	5.414	0.52185299493510062	0.04700	0.15857	0.19114	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999994668976826	0.74766	0.080785	0.02172	0	0.096583	0.02683	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0720215	0.16903	3.49	1.45	0.21708	-0.018000	0.12508	-1.256000	0.05892	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1035:0.1533:0.7432:0.0	8.835	0.34265	976	0.04745	.	ADPRHL1|ADPRHL1	Muscle_Skeletal|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	963.43	64	chr13	113405323	.	G	A	963.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.222;DP=586;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.534;SOR=0.74	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	9	0	1	0
chr13	113406766	113406766	T	A	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.A1424T:p.E475V,LOC101928841:NM_001375393:exon2:c.A1424T:p.E475V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07398	.	.	.	.	.	.	.	0.10832843	0.20162	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022783	0.17502	T	.	.	.	.	.	.	.	.	.	0.368163	0.08622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.42185	B	.	.	1.140841	0.15283	11.73	0.55507533220384642	0.05357	0.28062	0.23450	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999992368171359	0.74766	0.056701	0.00814	0	0.059962	0.00310	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0530651	0.11583	4.96	3.74	0.42108	0.073000	0.14504	0.316000	0.17134	0.607000	0.46521	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1542:0.0:0.1611:0.6847	6.585	0.21810	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3056.43	40	chr13	113406766	.	T	A	3056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=1079;ExcessHet=0;FS=0.498;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.22;ReadPosRankSum=-0.431;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr13	113534162	113534162	G	A	exonic	TMCO3	.	nonsynonymous SNV	TMCO3:NM_001349743:exon6:c.G964A:p.E322K,TMCO3:NM_001349746:exon7:c.G1156A:p.E386K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1518.43	36	chr13	113534162	.	G	A	1518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=0.756;SOR=0.669	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr13	113804975	113804975	C	T	exonic	TMEM255B	.	nonsynonymous SNV	TMEM255B:NM_182614:exon8:c.C760T:p.R254C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.009252888159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.475e-05	2.668e-05	2.6e-05	2.349e-05	0.0001	1.812e-05	1.608e-05	4.583e-05	3.276e-05	0.0001	0	0	5.04e-05	0	0	1.889e-05	1.658e-05	9.286e-05	1.315e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.121	0.27783	T	0.198	0.27767	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.708748	0.30034	N	-0.695	0.01866	N	0.95	0.43279	T	3.82	0.00065	N	0.361	0.40264	-1.0378	0.17985	T	0.045	0.19194	T	9	0.07451153	0.11398	T	0.009253	0.24296	T	0.062	0.17934	0.394	0.41935	0.0806252709748	0.07271	0.48033324140708794	0.47953	0.0920449276398	0.10393	0.318159252405	0.13142	T	0.002016	0.01422	T	-0.333281	0.05866	T	-0.534364	0.18852	T	0.0425461754202843	0.04154	T	0.584642	0.21276	T	0.05519707	0.10693	0.03538997	0.02781	0.05519707	0.10693	0.03538997	0.02780	-4.639	0.32658	T	.	.	0.072	0.04356	B	.	.	0.850429	0.12226	8.770	0.91890187304356841	0.21209	0.13564	0.17927	N	AEFDBCI	0.059508	0.11246	N	-0.999371713067721	0.08618	0.4047321	-0.918196971277305	0.11665	0.5956668	0.997025796198856	0.35208	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.711	0.71501	0	.	.	4.46	0.564	0.16487	2.300000	0.43280	0.334000	0.17313	-0.939000	0.02101	1.000000	0.71638	0.624000	0.25831	0.002000	0.04165	0.0:0.1756:0.1527:0.6717	5.128	0.14225	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2683.43	38	chr13	113804975	.	C	T	2683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.435;DP=743;ExcessHet=0;FS=3.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=0.074;SOR=1.012	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	9	0	1	0
chr13	114301834	114301834	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G508A:p.A170T,UPF3A:NM_001353646:exon7:c.G508A:p.A170T,UPF3A:NM_001353649:exon7:c.G496A:p.A166T,UPF3A:NM_001353647:exon8:c.G508A:p.A170T,UPF3A:NM_001353648:exon8:c.G508A:p.A170T,UPF3A:NM_080687:exon8:c.G1012A:p.A338T,UPF3A:NM_001353645:exon9:c.G508A:p.A170T,UPF3A:NM_001353650:exon9:c.G496A:p.A166T,UPF3A:NM_023011:exon9:c.G1111A:p.A371T	.	408	1113	1	0	0	1	0.000449035	.	.	.	3629168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0162049497918	7.7e-05	.	7.824e-05	0	0	0	0	9.46e-05	0	0.0002	6.47e-05	10	154602	rs145387476	3.969e-05	3.967e-05	2.859e-05	5.09e-05	0.0014	3.114e-05	2.847e-05	0.0007	0.0005	5.977e-05	4.477e-05	0	0	0	0.0014	1.079e-05	0.0001	0.0003	5.908e-05	5.905e-05	1.284e-05	0.0001	0.0006	3.075e-05	2.208e-05	0.0002	8.992e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0.0006	0.572	0.06145	T	0.631	0.07173	T	0.037	0.26188	B	0.017	0.22329	B	0.116578	0.19188	N	0.573733	0.91035	0.27520	N	1.01	0.25309	L	-1.41	0.80560	T	-0.39	0.14193	N	0.148	0.18376	-0.8508	0.51912	T	0.261	0.63186	T	9	0.06913984	0.09879	T	0.016205	0.37354	T	0.030	0.07022	.	.	0.899957250179	0.89896	0.03631307488388333	0.03578	0.170216262749	0.19188	0.308335125446	0.11655	T	8.91E-4	0.00456	T	-0.382272	0.03015	T	-0.494735	0.22895	T	0.0230541689734414	0.01030	T	0.735926	0.35246	T	0.015708147	0.00153	0.032290336	0.01943	0.015708147	0.00153	0.032290336	0.01942	-4.206	0.26838	T	.	.	0.075	0.08754	B	.;.	.;.	1.229277	0.16240	12.41	0.49136539935922896	0.04158	0.76863	0.37732	D	AEFBI	0.063821	0.12357	N	-0.551126186895524	0.20448	1.078027	-0.496866617391813	0.22240	1.20701	0.946660567765733	0.27717	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	3.34	0.37357	0.997000	0.29333	1.496000	0.26922	0.676000	0.76740	0.995000	0.38783	0.172000	0.23351	0.147000	0.20199	0.4058:0.0:0.5942:0.0	6.198	0.19773	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000530	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.000000	0.05	1122.43	33	chr13	114301834	.	G	A	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=415;ExcessHet=0;FS=3.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.73;MQRankSum=1.27;QD=11.45;ReadPosRankSum=-0.627;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1103	9	0	1	0
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N,UPF3A:NM_001353646:exon7:c.G599A:p.S200N,UPF3A:NM_001353649:exon7:c.G587A:p.S196N,UPF3A:NM_001353647:exon8:c.G599A:p.S200N,UPF3A:NM_001353648:exon8:c.G599A:p.S200N,UPF3A:NM_080687:exon8:c.G1103A:p.S368N,UPF3A:NM_001353645:exon9:c.G599A:p.S200N,UPF3A:NM_001353650:exon9:c.G587A:p.S196N,UPF3A:NM_023011:exon9:c.G1202A:p.S401N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.92	71	chr13	114301925	.	G	A	35.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.144;DP=468;ExcessHet=0;FS=62.808;InbreedingCoeff=-0.1627;MLEAC=1;MLEAF=0.071;MQ=52.58;MQRankSum=1.12;QD=0.6;ReadPosRankSum=-0.533;SOR=5.89	GT:AD:DP:GQ:PL	0/0:35,0:35:19:0,19,895	6	0	1	3
chr14	19414591	19414591	G	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon8:c.C1213T:p.P405S	.	470	1049	3	0	0	3	0.00142789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00136225375805	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146788089	0.0027	0.0054	0.0027	0.0027	0.0032	0.0027	0.0026	0.0031	0.0031	0.0005	0.0022	0.0001	0	0.0006	0.0018	0.0032	0.0027	0.0014	0.0039	0.0051	0.0042	0.0037	0.0057	0.0037	0.0036	0.0053	0.0051	0.0011	0.0681	0.0052	0.0009	0	0.0004	0	0.0057	0.0049	0.0018	0.011	0.55530	D	0.079	0.42086	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.71	0.26737	T	-1.73	0.41046	N	0.263	0.29774	-1.0239	0.22443	T	0.039	0.16849	T	8	0.0035389364	0.00063	T	0.001362	0.01961	T	.	.	0.236	0.16608	0.082315109003	0.07666	0.023966502454425245	0.02347	.	.	0.677637338638	0.63930	T	0.007793	0.07174	T	-0.235678	0.15904	T	-0.576311	0.14875	T	0.190607070922852	0.19880	T	0.736326	0.35288	T	0.051223096	0.09374	0.11778921	0.28435	0.051223096	0.09373	0.11778921	0.28434	-2.861	0.08759	T	.	.	0.099	0.16886	B	.	.	1.459785	0.18824	13.94	0.68941343562856472	0.08815	0.00628	0.02764	N	AEFI	0.023113	0.01244	N	-0.885206082346872	0.11194	0.5388793	-1.02695800044151	0.09195	0.4560843	1.96308778356445E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	0.251000	0.18025	-4.069000	0.02360	0.318000	0.19305	0.081000	0.22364	0.000000	0.08366	0.031000	0.13245	0.0:0.0:1.0:0.0	5.373	0.15451	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	2852.08	304	chr14	19414591	.	G	A	2852.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.25;DP=581;ExcessHet=0;FS=0.426;MLEAC=1;MLEAF=0.056;MQ=40.49;MQRankSum=-7.372;QD=9.38;ReadPosRankSum=0.58;SOR=0.658	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	8	0	1	1
chr14	19434255	19434255	G	A	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C35T:p.S12F	.	424	1028	70	0	0	70	0.0329257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00274045050288	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201677121	0.0004	0.0036	0.0004	0.0004	0.0031	0.0004	0.0004	0.0020	0.0016	0.0003	9.007e-05	0.0001	0.0019	0.0005	0.0031	0.0003	0.0004	0.0008	0.0003	0.0021	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0.0004	0	0.0002	0.0003	0.0014	0.0002	0	8.871e-05	0	0.0013	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.43672	T	-1.65	0.39503	N	0.242	0.27316	-1.0024	0.29226	T	0.134	0.44700	T	6	0.07944286	0.12781	T	0.00274	0.05665	T	.	.	0.283	0.23961	0.082315109003	0.07666	0.0034511176337462834	0.00322	.	.	0.526948750019	0.42605	T	0.00792	0.07293	T	-0.190138	0.22238	T	-0.510896	0.21224	T	0.271757781505585	0.23823	T	0.808619	0.45852	T	0.101636544	0.24010	0.2045223	0.44580	0.101636544	0.24009	0.2045223	0.44579	-5.745	0.44092	T	.	.	0.184	0.39848	B	.	.	2.220525	0.28336	17.76	0.99353790175040035	0.60697	0.00320	0.01682	N	AEFI	0.028633	0.02560	N	-0.599969604237224	0.18946	0.9877301	-0.893078979628855	0.12257	0.6294545	1.25036481235123E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.107000	0.10843	0.473000	0.18731	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1005.05	183	chr14	19434255	.	G	A	1005.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.128;DP=2516;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=35.37;MQRankSum=-0.8;QD=6.4;ReadPosRankSum=-0.082;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:252,0:252:0:.:.:0,0,5914:.	8	0	1	1
chr14	19713771	19713771	A	C	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T146G:p.I49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.177e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.78	0.95251	H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2413083	0.41306	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.23371425758989875	0.23286	.	.	0.290080726147	0.08934	T	0.159824	0.50342	T	0.0785471	0.61871	D	-0.124949	0.61394	T	.	.	.	0.233577	0.03193	T	0.043442357	0.06772	0.17287156	0.39573	0.043442357	0.06771	0.17287156	0.39572	-13.865	0.92611	D	.	.	0.270	0.50444	B	.;.	.;.	1.460536	0.18830	13.95	0.31370496694902894	0.01764	0.04424	0.10018	N	AEI	.	.	.	.	.	.	.	.	.	1.90918300334729E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0464806	0.05621	1.06	-1.12	0.09306	-0.720000	0.05072	-13.080000	0.00481	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6948:0.0:0.3052:0.0	6.787	0.22866	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	1028.6	.	chr14	19713771	.	A	C	1028.6	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.967;DP=278;ExcessHet=0;FS=5.119;MLEAC=1;MLEAF=0.056;MQ=30.45;MQRankSum=-0.967;QD=26.37;ReadPosRankSum=-0.967;SOR=1.739	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1343	8	0	1	1
chr14	19781253	19781253	G	A	exonic	OR4M1	.	nonsynonymous SNV	OR4M1:NM_001005500:exon1:c.G931A:p.E311K	.	424	1079	19	0	0	19	0.00872761	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00318015179772	0.0002	0.000399361	0.0005	0.0001	0.0004	0	0	0.0003	0	0.0025	0.000401	62	154602	rs2318549	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0023	0.0019	3.02e-05	0.0002	0.0002	0	0	0.0035	0.0002	0.0004	0.0023	0.0002	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.404e-05	0	0.0007	0.0003	0	0	0	0.0002	0.0009	0.0021	1.0	0.00964	T	0.951	0.02610	T	0.0	0.02946	B	0.0	0.01387	B	0.013227	0.28908	N	0.244803	0.999986	0.18198	N	-0.205	0.04094	N	9.91	0.00000	T	0.41	0.03407	N	0.149	0.15187	-1.1481	0.01083	T	0.000	0.00039	T	10	0.0059630275	0.00134	T	0.00318	0.06966	T	0.080	0.23350	.	.	0.33835085245	0.33439	0.1229335702098152	0.12219	0.00235242544378	0.00204	0.417993187904	0.27561	T	0.001081	0.00603	T	-0.654698	0.00068	T	-0.719372	0.04826	T	0.0086430702238138	0.00106	T	0.344066	0.07525	T	0.03778965	0.04913	0.051260136	0.08214	0.03778965	0.04913	0.051260136	0.08214	-1.404	0.01579	T	.	.	0.060	0.00919	B	.;.	.;.	0.744457	0.11139	7.782	0.55914138705577587	0.05442	0.00847	0.03386	N	AEFGI	0.026292	0.01947	N	-0.857016938671583	0.11878	0.5757078	-0.693444924623671	0.17123	0.9091206	4.45107030509885E-4	0.07004	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.07	2.88	0.32617	0.679000	0.24971	2.853000	0.35153	-0.067000	0.16409	0.001000	0.13787	0.999000	0.35428	0.266000	0.23669	0.7275:0.1747:0.0977:0.0	5.457	0.15894	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.05	3758.43	131	chr14	19781253	.	G	A	3758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.564;DP=1715;ExcessHet=0;FS=7.618;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.66;MQRankSum=-2.118;QD=14.13;ReadPosRankSum=1.33;SOR=0.381	GT:AD:DP:GQ:PL	0/0:213,0:213:99:0,120,1800	9	0	1	0
chr14	19868787	19868787	G	A	exonic	OR4K3	.	unknown	UNKNOWN	.	901	620	1	0	0	1	0.000805802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053703876	6.873e-05	4.93e-05	8.209e-05	5.577e-05	0.0010	4.282e-05	3.517e-05	0.0003	0.0001	0	0	0	0	0.0001	0	5.041e-05	0.0002	0.0010	5.251e-05	5.249e-05	3.854e-05	6.711e-05	0.0010	2.555e-05	1.828e-05	0.0004	0.0003	0	0	0	0	0	9.414e-05	0	1.47e-05	0.0005	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1540.43	89	chr14	19868787	.	G	A	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=1657;ExcessHet=0;FS=1.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.71;ReadPosRankSum=-0.59;SOR=0.59	GT:AD:DP:GQ:PL	0/1:245,82:327:99:1552,0,6537	9	0	1	0
chr14	19976201	19976201	G	C	exonic	OR4K15	.	nonsynonymous SNV	OR4K15:NM_001005486:exon1:c.G683C:p.G228A	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.00656402270066	.	0.00159744	0.0012	0	0.0003	0	0	1.499e-05	0	0.0087	0.001022	158	154602	rs200611567	0.0005	0.0005	0.0003	0.0007	0.0082	0.0005	0.0005	0.0077	0.0075	5.98e-05	0	0	2.519e-05	0	0.0002	1.799e-06	0.0008	0.0082	0.0003	0.0003	0.0002	0.0004	0.0093	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0093	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.984	0.76113	D	0.000084	0.51296	D	0.000000	0.909333	0.36369	D	1.72	0.44442	L	1.23	0.36872	T	-5.86	0.88561	D	0.113	0.10056	-0.6695	0.61851	T	0.180	0.52598	T	10	0.0044600368	0.00092	T	0.006564	0.17301	T	0.162	0.41843	0.514	0.61307	0.463873965229	0.46014	0.23375426244501468	0.23290	0.289363516436	0.31353	0.225940495729	0.01681	T	0.012299	0.10832	T	-0.458216	0.01008	T	-0.426126	0.30375	T	0.230825384567176	0.21991	T	0.889211	0.62120	D	0.8464186	0.87071	0.8434851	0.91069	0.8464186	0.87073	0.8434851	0.91070	-7.784	0.59588	D	.	.	0.16	0.35372	B	.;.	.;.	4.031696	0.59621	24.1	0.99751558660236972	0.84305	0.25544	0.22730	N	AEFI	0.136276	0.25689	N	0.181209281259909	0.50298	3.221085	0.0479623477479595	0.41972	2.530787	0.322973642700067	0.19403	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.08	4.08	0.46880	0.349000	0.19801	3.679000	0.39461	0.608000	0.46601	0.000000	0.06391	1.000000	0.68203	0.859000	0.40722	0.0:0.0:1.0:0.0	13.808	0.62739	988	0.01987	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001074	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2093.43	34	chr14	19976201	.	G	C	2093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.417;DP=1121;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.65;MQRankSum=0.306;QD=13.59;ReadPosRankSum=-0.414;SOR=0.649	GT:AD:DP:GQ:PL	0/0:149,0:149:99:0,120,1800	9	0	1	0
chr14	20060808	20060808	T	C	exonic	OR4L1	.	nonsynonymous SNV	OR4L1:NM_001004717:exon1:c.T764C:p.I255T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.00371577921331	.	.	8.299e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs760541211	4.109e-06	4.104e-06	1.363e-06	6.884e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.499e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.022	0.57587	D	0.825	0.45873	P	0.58	0.50189	P	0.000053	0.53742	D	0.000000	0.983656	0.24866	N	2.055	0.56616	M	1.02	0.40749	T	-4.61	0.79060	D	0.339	0.38027	-0.8747	0.50173	T	0.166	0.50421	T	10	0.22765094	0.39650	T	0.003716	0.08589	T	0.120	0.33359	0.43	0.47843	0.59966951432	0.59648	0.05115297572913014	0.05057	0.0165124899938	0.01591	0.412249177694	0.26769	T	0.017046	0.13973	T	-0.122124	0.32777	T	-0.413199	0.31857	T	0.860836923122406	0.51127	D	0.536146	0.17993	T	0.40331995	0.60962	0.42221037	0.66129	0.40331995	0.60962	0.42221037	0.66129	-6.218	0.48069	T	.	.	0.251	0.48561	B	.	.	3.699682	0.52758	23.3	0.99425659063515881	0.63984	0.16910	0.19604	N	AEI	0.055308	0.10129	N	0.138253175572168	0.48255	3.040225	0.0648770028408068	0.42796	2.594954	0.00120752694076626	0.08334	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.13	4.13	0.47661	0.303000	0.18965	4.581000	0.43919	0.642000	0.52262	0.000000	0.06391	0.864000	0.27519	0.990000	0.65344	0.0:0.0:0.0:1.0	11.420	0.49219	988	0.01987	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1650.43	101	chr14	20060808	.	T	C	1650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.711;DP=822;ExcessHet=0;FS=5.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.525;SOR=0.346	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	9	0	1	0
chr14	20243501	20243501	A	G	exonic	OR11H4	.	nonsynonymous SNV	OR11H4:NM_001004479:exon1:c.A710G:p.Q237R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00224637432916	.	.	8.257e-06	0	0	0	0	0	0	6.141e-05	6.5e-06	1	154602	rs751579658	6.842e-06	6.84e-06	6.808e-06	6.877e-06	0.0007	3.46e-06	2.52e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	9.938e-05	0	6.574e-06	6.568e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.260226	0.15329	N	0.579894	0.995841	0.23185	N	-0.67	0.02046	N	9.01	0.00020	T	0.69	0.02195	N	0.036	0.01068	-0.9655	0.38112	T	0.000	0.00039	T	10	0.0191935	0.00426	T	0.002246	0.04260	T	0.023	0.04649	0.42	0.46200	0.110078149338	0.10416	0.1062921839491818	0.10559	0.00403527943105	0.00354	0.187520682812	0.00184	T	1.1E-4	0.00013	T	-0.498781	0.00581	T	-0.853611	0.00915	T	0.0256916566653831	0.01365	T	0.172883	0.02681	T	0.058573473	0.11798	0.038940374	0.03875	0.058573473	0.11798	0.038940374	0.03875	-1.516	0.01797	T	.	.	0.050	0.00248	B	.;.;.	.;.;.	0.987458	0.13652	10.19	0.33963319966013078	0.02052	0.15541	0.18962	N	AEFBI	0.111550	0.22082	N	-1.3651380648975	0.02971	0.1320025	-1.18198516174762	0.06210	0.298227	0.00337850956424755	0.10082	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	-0.882	0.10066	-0.358000	0.07692	-2.056000	0.04279	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.5314:0.0:0.32:0.1486	4.173	0.09801	952	0.10565	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1167.43	34	chr14	20243501	.	A	G	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.313;DP=444;ExcessHet=0;FS=2.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.99;SOR=0.953	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1214	9	0	1	0
chr14	20378209	20378209	G	A	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon37:c.C5212T:p.R1738C,TEP1:NM_007110:exon39:c.C5536T:p.R1846C	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0195515814689	0.0002	0.000199681	0.0002	0	0	0.0001	0	4.505e-05	0	0.0013	0.0001746	27	154602	rs144424113	0.0001	0.0001	6.401e-05	0.0002	0.0014	0.0001	9.704e-05	0.0012	0.0011	0	0	0	2.519e-05	0	0.0007	3.147e-05	0.0002	0.0014	0.0001	0.0001	7.714e-05	0.0002	0.0021	8.17e-05	6.726e-05	0.0011	0.0009	2.409e-05	0	0	0	0.0004	0	0.0034	7.354e-05	0	0.0021	0.069	0.35537	T	0.102	0.38596	T	0.205	0.32740	B	0.031	0.27542	B	0.000134	0.49741	N	0.172925	0.971693	0.38890	D	2.12	0.58754	M	0.65	0.52642	T	-4.42	0.77470	D	0.445	0.48319	-1.0313	0.20034	T	0.099	0.36983	T	10	0.04007873	0.02548	T	0.019552	0.41941	T	0.073	0.21317	.	.	0.525459847594	0.52193	0.623025822369685	0.62235	0.157365721	0.17763	0.403162777424	0.25509	T	0.427328	0.77684	T	-0.407815	0.02055	T	-0.399107	0.33488	T	0.158327531292043	0.17747	T	0.827017	0.49049	T	0.16873485	0.37349	0.13292272	0.31886	0.16873485	0.37349	0.13292272	0.31885	-5.065	0.37537	T	.	.	0.088	0.12891	B	.;.	.;.	2.748393	0.36020	20.1	0.99920377701863716	0.98721	0.78344	0.38638	D	AEFDBI	0.135580	0.25596	N	-0.360607309492052	0.26885	1.470734	-0.27969087189879	0.28768	1.606555	0.880779479825871	0.25616	0.562547	0.31514	0	0.577304	0.33150	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.48	3.63	0.40741	0.933000	0.28497	1.784000	0.28742	0.676000	0.76740	0.967000	0.34061	0.964000	0.29435	0.666000	0.33137	0.1638:0.0:0.8362:0.0	9.937	0.40726	929	0.16858	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1524.43	51	chr14	20378209	.	G	A	1524.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=461;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.09;SOR=0.886	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	9	0	1	0
chr14	20429228	20429228	C	T	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001109997:exon4:c.G1223A:p.R408Q,KLHL33:NM_001365790:exon5:c.G2015A:p.R672Q	.	435	1083	4	0	0	4	0.00184332	.	.	.	2396735	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.747	0.119719075709	.	0.000399361	0.0003	0	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs78943907	0.0001	0.0001	9.588e-05	0.0001	0.0010	9.679e-05	9.12e-05	0.0008	0.0007	6.33e-05	0.0002	0	0.0005	0	0.0004	3.985e-05	0.0002	0.0010	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0.0002	0	0.0003	0	0.0006	0	0	4.41e-05	0	0.0012	0.0	0.91255	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.976406	0.39273	D	4.18	0.97724	H	-2.03	0.85613	D	-3.87	0.72594	D	0.82	0.81559	0.877	0.95372	D	0.823	0.94054	D	10	0.5580063	0.64628	D	0.119719	0.80008	D	0.747	0.91285	.	.	0.394685799254	0.39082	0.6855296696524381	0.68491	.	.	0.528979539871	0.42889	T	0.229506	0.84883	T	0.143917	0.68695	D	0.383509	0.91554	D	0.700403869152069	0.40738	D	0.864814	0.56255	D	0.77049243	0.82078	0.7313351	0.84124	0.77049243	0.82079	0.7313351	0.84125	-9.562	0.71244	D	.	.	0.410	0.60155	A	.;.	.;.	5.263220	0.88369	29.6	0.99957209629090416	0.99981	0.95811	0.66254	D	AEFDBCI	0.824894	0.74470	D	0.966111310685965	0.94603	12.88857	0.890830847145987	0.95160	13.36545	0.999999999998381	0.74766	0.559995	0.30671	0	0.491513	0.07743	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	5.44	5.44	0.79348	5.919000	0.69736	7.452000	0.58971	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.299	0.82630	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2486.43	82	chr14	20429228	.	C	T	2486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=1063;ExcessHet=0;FS=1.876;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=-0.324;SOR=0.624	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	9	0	1	0
chr14	20429556	20429556	T	C	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001109997:exon3:c.A995G:p.N332S,KLHL33:NM_001365790:exon4:c.A1787G:p.N596S	.	430	1089	3	0	0	3	0.00137552	.	.	.	2399010	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.00463190631276	.	0.000199681	0.0003	0	0	0	0	0	0	0.0009	5.17e-05	8	154602	rs565567891	8.714e-05	8.345e-05	5.356e-05	0.0001	0.0012	7.451e-05	6.979e-05	0.0010	0.0009	0.0001	2.8e-05	0	0	2.017e-05	0.0005	1.39e-05	0.0001	0.0012	7.228e-05	7.219e-05	3.856e-05	0.0001	0.0010	3.971e-05	3.127e-05	0.0004	0.0003	0.0001	0	0	0	0	0	0	0	0	0.0010	0.511	0.07473	T	0.788	0.04220	T	0.0	0.02946	B	0.003	0.08700	B	0.012285	0.29224	N	0.377447	0.999998	0.08975	N	-0.275	0.03743	N	-0.25	0.67011	T	0.34	0.03824	N	0.063	0.03502	-0.9857	0.33663	T	0.122	0.42357	T	10	0.013245553	0.00282	T	0.004632	0.11472	T	0.099	0.28413	0.29	0.25081	0.0611884634855	0.05136	0.4300276249705541	0.42919	.	.	0.353757679462	0.18473	T	0.00273	0.21238	T	-0.528711	0.00391	T	-0.599709	0.12835	T	0.0448037596092088	0.04566	T	0.693131	0.30283	T	0.07011081	0.15415	0.06786531	0.14095	0.07011081	0.15415	0.06786531	0.14095	-2.914	0.09284	T	.	.	0.067	0.04436	B	.;.;.	.;.;.	0.825580	0.11971	8.529	0.57850169091255788	0.05861	0.02321	0.06652	N	AEFBI	0.056378	0.10419	N	-0.728364715407435	0.15227	0.7655741	-0.642200111249892	0.18413	0.983561	0.999692239505212	0.41870	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.34	1.64	0.22949	1.058000	0.30114	0.595000	0.19862	0.665000	0.62972	0.449000	0.26558	0.450000	0.24948	0.983000	0.59808	0.0:0.2727:0.0:0.7273	7.395	0.26107	946	0.12043	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3339.43	82	chr14	20429556	.	T	C	3339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=1225;ExcessHet=0;FS=5.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.419;SOR=0.599	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	9	0	1	0
chr14	20435525	20435525	G	-	exonic	KLHL33	.	frameshift deletion	KLHL33:NM_001365790:exon2:c.287delC:p.P96Rfs*34	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	152.34	3	chr14	20435524	.	CG	C	152.34	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.703;DP=48;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=1.29;SOR=0.582	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,148	8	0	1	1
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1875	429.12	88	chr14	20747837	.	G	A	429.12	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-3.181;DP=752;ExcessHet=0.7463;FS=409.242;InbreedingCoeff=-0.2855;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=-0.009;SOR=9.108	GT:AD:DP:GQ:PL	0/0:66,0:66:52:0,52,1520	5	0	3	2
chr14	20990245	20990245	G	C	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon2:c.G91C:p.V31L,METTL17:NM_022734:exon2:c.G91C:p.V31L	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	7.7e-05	0.00219649	0.0015	9.694e-05	0	0	0	0	0.0022	0.0109	0.0012548	194	154602	rs199730461	0.0007	0.0007	0.0003	0.0010	0.0104	0.0006	0.0006	0.0098	0.0096	5.974e-05	2.236e-05	0	0	0	0.0005	6.295e-06	0.0007	0.0104	0.0003	0.0003	0.0002	0.0005	0.0106	0.0003	0.0002	0.0082	0.0074	4.808e-05	0	0	0	0	0	0	0	0	0.0106	0.026	0.50676	D	0.082	0.55341	T	0.278	0.40811	B	0.034	0.35748	B	0.016365	0.27995	N	0.321581	1	0.08975	N	2.215	0.62545	M	1.41	0.35219	T	-0.66	0.23808	N	0.454	0.49146	-1.0807	0.07214	T	0.067	0.27537	T	10	0.0057865977	0.00129	T	.	.	.	0.028	0.06331	0.262	0.20631	0.311079019809	0.30711	0.3227596530613712	0.32188	0.43564859741	0.43665	0.443575382233	0.31066	T	0.005344	0.19675	T	-0.466308	0.00897	T	-0.4332	0.29573	T	0.0650130690757471	0.07933	T	0.791921	0.45191	T	0.1735029	0.38102	0.20729282	0.44981	0.1735029	0.38102	0.20729282	0.44980	-3.866	0.22243	T	.	.	0.126	0.47305	B	.;.;.;.	.;.;.;.	3.028449	0.40554	21.2	0.99117435140971077	0.52906	0.03016	0.07890	N	ALL	0.091092	0.18453	N	-0.400716941973705	0.25444	1.381255	-0.401286500129438	0.24960	1.369811	0.999999999999132	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.07	3.26	0.36471	1.481000	0.35083	6.439000	0.55649	0.656000	0.54149	0.149000	0.23640	1.000000	0.68203	0.162000	0.20715	0.216:0.0:0.784:0.0	9.704	0.39373	923	0.18507	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1519.43	37	chr14	20990245	.	G	C	1519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=508;ExcessHet=0;FS=3.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.168;SOR=0.511	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr14	21001410	21001410	G	A	exonic	SLC39A2	.	nonsynonymous SNV	SLC39A2:NM_014579:exon4:c.G761A:p.R254Q	.	.	.	.	.	.	.	.	.	.	.	2378601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00398592869396	.	.	5.776e-05	0	0	0	0	6.004e-05	0	0.0002	5.17e-05	8	154602	rs772255805	2.463e-05	2.463e-05	1.225e-05	3.713e-05	0.0002	1.803e-05	1.6e-05	8.887e-05	7.054e-05	0	0	3.831e-05	0	3.744e-05	0	1.439e-05	6.624e-05	0.0002	5.255e-05	5.253e-05	8.991e-05	1.345e-05	0.0002	2.557e-05	1.83e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.57	0.06184	T	0.609	0.07716	T	0.002	0.09854	B	0.005	0.11217	B	0.977870	0.07821	N	1.011940	1	0.08975	N	-0.375	0.03072	N	0.87	0.46412	T	0.28	0.04233	N	0.049	0.02088	-0.9655	0.38112	T	0.048	0.20672	T	10	0.02816549	0.00951	T	0.003986	0.09431	T	0.052	0.14661	0.318	0.29581	0.190952846119	0.18690	0.1830012664118713	0.18219	0.0368355658946	0.03901	0.190783649683	0.00239	T	0.021427	0.16689	T	-0.483401	0.00707	T	-0.728548	0.04393	T	0.0148399674245441	0.00313	T	0.606739	0.22845	T	0.021924883	0.00823	0.037704322	0.03481	0.021924883	0.00822	0.037704322	0.03481	-3.986	0.23594	T	.	.	0.066	0.02173	B	.	.	0.090125	0.04941	1.512	0.49563768947656955	0.04232	0.05672	0.11589	N	AEFBI	0.075471	0.15156	N	-1.7933875575844	0.00561	0.02418378	-1.79027040732618	0.00791	0.03528697	0.97702236184063	0.29781	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.8	-4.81	0.02948	0.474000	0.21858	-0.094000	0.12022	-1.332000	0.01214	0.003000	0.16062	0.000000	0.08366	0.003000	0.05239	0.7952:0.0:0.2048:0.0	14.098	0.64561	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	3030.43	38	chr14	21001410	.	G	A	3030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=536;ExcessHet=0;FS=2.596;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=0.757;SOR=0.695	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr14	21030666	21030666	A	G	exonic	TPPP2	.	nonsynonymous SNV	TPPP2:NM_173846:exon2:c.A85G:p.N29D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0438537724956	.	.	1.676e-05	0	0	0	0	1.515e-05	0.0011	0	1.29e-05	2	154602	rs764259293	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	4.967e-05	0	1.313e-05	1.312e-05	1.285e-05	1.343e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.007	0.59928	D	0.035	0.56192	D	0.653	0.40782	P	0.73	0.55268	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.255	0.89877	M	0.9	0.45248	T	-3.71	0.78046	D	0.92	0.92667	-0.5806	0.65593	T	0.261	0.63197	T	10	0.6354138	0.68753	D	0.043854	0.61196	D	0.323	0.64522	0.641	0.77795	0.0482279557977	0.04254	0.7867771380887452	0.78629	0.383491331822	0.39670	0.715448617935	0.69383	T	0.138526	0.54803	T	-0.055586	0.43593	T	-0.253976	0.49423	T	0.93588262796402	0.60445	D	0.940706	0.90499	D	0.58786243	0.72035	0.6907724	0.81804	0.58786243	0.72036	0.6907724	0.81805	-9.759	0.72456	D	.	.	0.924	0.84533	P	.;.;.;.;.	.;.;.;.;.	3.850588	0.55778	23.7	0.99771297664001013	0.85918	0.97750	0.76862	D	AEFGBI	0.926631	0.90803	D	0.610100037089316	0.73814	6.027828	0.579239333303609	0.73453	5.972937	0.999999776660454	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.24	4.1	0.47196	9.325000	0.96006	7.925000	0.74723	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9137:0.0:0.0863:0.0	9.296	0.36978	952	0.10565	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1886.43	35	chr14	21030666	.	A	G	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.196;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.488;SOR=0.688	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1144	9	0	1	0
chr14	21080754	21080754	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon12:c.G326A:p.R109Q,ARHGEF40:NM_001278530:exon12:c.G326A:p.R109Q,ARHGEF40:NM_018071:exon12:c.G2468A:p.R823Q	.	396	1115	11	0	0	11	0.00490852	.	.	.	714051	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.022	.	0.0092	0.00878594	0.0039	0.0253	0.0038	0	0.0003	0.0020	0.0057	0.0010	0.0037322	577	154602	rs61734981	0.0023	0.0023	0.0023	0.0022	0.0265	0.0022	0.0022	0.0251	0.0245	0.0265	0.0055	0.0036	0	0.0003	0.0143	0.0015	0.0047	0.0005	0.0092	0.0092	0.0092	0.0091	0.0266	0.0088	0.0086	0.0253	0.0248	0.0266	0	0.0076	0.0029	0	0.0002	0.0204	0.0019	0.0123	0.0010	0.352	0.12226	T	0.139	0.33666	T	0.136	0.27347	B	0.016	0.17743	B	0.013347	0.28869	N	0.165528	0.962772	0.26052	N	0.49	0.13296	N	4.39	0.02234	T	0.7	0.02163	N	0.146	0.14763	-0.8980	0.48195	T	0.003	0.00961	T	10	0.00621292	0.00140	T	.	.	.	0.022	0.04323	.	.	0.330589388543	0.32661	0.0707227173842482	0.07009	0.274884690193	0.29973	0.308119356632	0.11623	T	0.006533	0.05961	T	-0.659213	0.00064	T	-0.699418	0.05858	T	0.00793107673425905	0.00093	T	0.835216	0.50504	T	0.026932659	0.01815	0.03388583	0.02359	0.026932659	0.01814	0.03388583	0.02358	-4.066	0.24787	T	.	.	0.069	0.03026	B	.	.	2.004535	0.25467	16.77	0.95875339350678024	0.28060	0.48092	0.28129	N	AEFBI	0.176021	0.30321	N	-0.332402382419963	0.27925	1.535997	-0.197143582234717	0.31641	1.792593	0.946490455403056	0.27709	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.528226	0.09195	0	.	.	5.14	3.33	0.37245	1.407000	0.34266	1.638000	0.27776	0.676000	0.76740	0.679000	0.28429	0.003000	0.18671	0.995000	0.73285	0.1799:0.0:0.8201:0.0	7.757	0.28095	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.025176	0.090909	0.032609	0.002924	0.000000	0.008621	0.015244	0.000000	0.05	1541.43	43	chr14	21080754	.	G	A	1541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=421;ExcessHet=0;FS=1.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.97;ReadPosRankSum=1.45;SOR=0.793	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1125	9	0	1	0
chr14	21634562	21634562	A	T	exonic	OR10G2	.	nonsynonymous SNV	OR10G2:NM_001005466:exon1:c.T281A:p.I94N	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00142462472076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1377282773	2.053e-06	1.71e-05	4.084e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.874e-05	0	1.799e-06	0	0	1.326e-05	0.0003	0	2.716e-05	2.444e-05	2.2e-06	8.3e-07	.	.	2.444e-05	0	0	0	0	0	0	1.477e-05	0	0	0.316	0.13744	T	0.489	0.11586	T	.	.	.	.	.	.	0.019774	0.27184	N	0.258283	1	0.08975	N	.	.	.	4.11	0.02916	T	2.35	0.00275	N	0.077	0.05162	-0.9096	0.46904	T	0.004	0.01400	T	10	0.06790173	0.09527	T	0.001425	0.02113	T	0.020	0.03691	0.327	0.31034	0.0482279557977	0.04254	0.0761118464690503	0.07547	0.0383258984852	0.04077	0.30839908123	0.11664	T	.	.	.	-0.421109	0.01683	T	-0.842671	0.01059	T	0.0992492242150564	0.12275	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07985	B	.	.	-0.326268	0.02504	0.295	0.44166110142026715	0.03376	0.01153	0.04166	N	AEFDGBI	0.021101	0.00903	N	-1.34215072895635	0.03207	0.1428647	-1.26687792120906	0.04886	0.2315522	5.54338654100446E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.79	1.97	0.25278	-1.657000	0.02081	-0.952000	0.06810	-1.724000	0.00724	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1815:0.7163:0.0:0.1021	6.352	0.20586	814	0.42100	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	122.43	109	chr14	21634562	.	A	T	122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.62;DP=1124;ExcessHet=0;FS=20.255;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.06;MQRankSum=-11.16;QD=0.86;ReadPosRankSum=-4.648;SOR=2.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:125,0:125:99:.:.:0,120,1800:.	9	0	1	0
chr14	21634566	21634566	A	C	exonic	OR10G2	.	nonsynonymous SNV	OR10G2:NM_001005466:exon1:c.T277G:p.S93A	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000996177165173	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308175467	2.052e-06	8.893e-06	4.084e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	1.873e-05	0	1.799e-06	0	0	1.319e-05	0.0002	0	2.702e-05	2.426e-05	2.19e-06	8.2e-07	.	.	2.426e-05	0	0	0	0	0	0	1.473e-05	0	0	0.571	0.06164	T	0.531	0.10069	T	.	.	.	.	.	.	0.076592	0.21154	N	0.336486	1	0.08975	N	.	.	.	4.09	0.02973	T	-0.77	0.21429	N	0.035	0.01004	-0.9300	0.44139	T	0.006	0.02168	T	10	0.07767296	0.12287	T	9.96E-4	0.01050	T	0.027	0.05988	0.277	0.23004	0.0297737177859	0.01360	0.03447163969751868	0.03395	0.025315500999	0.02582	0.283850848675	0.08035	T	.	.	.	-0.43006	0.01481	T	-0.855528	0.00893	T	0.0226296676241193	0.00980	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.05800	B	.	.	-0.284609	0.02687	0.348	0.35510395220934704	0.02232	0.00993	0.03770	N	AEFDGBI	0.019920	0.00737	N	-0.965350737098585	0.09351	0.4422129	-0.904549167901483	0.11986	0.6139934	0.00113623721164977	0.08261	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.79	2.9	0.32809	-0.141000	0.10308	-2.059000	0.04275	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2013:0.7986:0.0:0.0	10.301	0.42834	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	104.43	109	chr14	21634566	.	A	C	104.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.13;DP=1119;ExcessHet=0;FS=26.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.28;MQRankSum=-11.77;QD=0.75;ReadPosRankSum=-3.974;SOR=3.762	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:125,0:125:99:.:.:0,120,1800:.	9	0	1	0
chr14	22771544	22771544	G	A	exonic	OXA1L	.	nonsynonymous SNV	OXA1L:NM_005015:exon10:c.G1294A:p.D432N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0405367530524	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs754585288	2.873e-05	2.941e-05	1.77e-05	3.988e-05	0.0002	2.151e-05	1.908e-05	5.396e-05	4.042e-05	0	0	0	5.038e-05	0	0.0002	2.608e-05	1.656e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.9	0.55439	T	-1.94	0.45042	N	0.363	0.48963	-0.3065	0.74804	T	0.363	0.72407	T	10	0.27416986	0.44969	T	0.040537	0.59431	D	0.173	0.43840	.	.	0.876692708953	0.87548	0.5565430550153102	0.55581	0.390847452688	0.40287	0.505915522575	0.39652	T	0.061734	0.33738	T	-0.211588	0.19156	T	-0.316006	0.43012	T	0.814560651779175	0.47374	D	0.856214	0.54490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.35829	B	.;.;.;.;.	.;.;.;.;.	4.687949	0.75090	26.3	0.9991932320206045	0.98654	0.97428	0.74687	D	AEFDBCI	0.915248	0.87977	D	0.74849674942657	0.82808	7.85478	0.691629663270963	0.81744	7.598594	0.999999999972776	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.55	5.55	0.83298	5.573000	0.67117	11.768000	0.95790	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.391000	0.26581	0.0:0.0:1.0:0.0	18.275	0.90021	916	0.20744	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2161.43	36	chr14	22771544	.	G	A	2161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=513;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.48;SOR=0.824	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr14	22843722	22843722	G	C	exonic	MMP14	.	nonsynonymous SNV	MMP14:NM_004995:exon6:c.G863C:p.G288A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0103835465966	.	.	8.298e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs138573365	2.781e-06	3.42e-06	2.767e-06	2.794e-06	2.784e-05	6.5e-07	4.4e-07	3e-07	1.1e-07	0	2.784e-05	0	2.533e-05	0	0	1.809e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.04482	T	0.984	0.02399	T	0.0	0.02946	B	0.002	0.06944	B	0.998659	0.07950	N	1.000540	0.999705	0.20638	N	1.265	0.31966	L	2.39	0.15724	T	-1.14	0.29323	N	0.065	0.03726	-1.0227	0.22834	T	0.025	0.10733	T	10	0.060550302	0.07454	T	0.010384	0.26850	T	0.047	0.12962	0.3	0.26683	0.309943084671	0.30607	0.4800450136557709	0.47924	0.160415957291	0.18098	0.332194298506	0.15266	T	0.081672	0.36652	T	-0.466958	0.00888	T	-0.682827	0.06812	T	0.0255256298251593	0.01342	T	0.283372	0.04986	T	0.09791368	0.23087	0.087502144	0.20343	0.09791368	0.23087	0.087502144	0.20342	-4.614	0.32347	T	0.24136243730428225	0.32694	0.091	0.12938	B	.	.	2.195868	0.27999	17.65	0.66776723702762308	0.08158	0.29239	0.23769	N	AEFDBI	0.180036	0.30733	N	-0.689577511624021	0.16317	0.8302693	-0.53184907622157	0.21290	1.151031	0.999994427106138	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.8	3.84	0.43422	1.062000	0.30164	1.287000	0.25388	0.676000	0.76740	0.685000	0.28485	0.803000	0.26967	0.818000	0.38543	0.0:0.3131:0.6869:0.0	13.733	0.62284	791	0.46100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	913.43	43	chr14	22843722	.	G	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=2.16;SOR=0.739	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1286	9	0	1	0
chr14	22978943	22978943	A	G	exonic	AJUBA	.	nonsynonymous SNV	AJUBA:NM_001289097:exon2:c.T1100C:p.F367S	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0038	0	0	0	.	0.0004	0	0.0053	0.0002846	44	154602	rs566042229	0.0003	0.0002	0.0001	0.0004	0.0037	0.0003	0.0002	0.0033	0.0032	0	7.078e-05	0.0003	7.787e-05	0	0.0011	1.955e-05	0.0003	0.0037	0.0001	0.0001	0.0001	0.0001	0.0021	8.164e-05	6.721e-05	0.0011	0.0009	2.407e-05	0	6.535e-05	0	0	0	0	0.0001	0	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	996.43	37	chr14	22978943	.	A	G	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.258;DP=382;ExcessHet=0;FS=1.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.82;ReadPosRankSum=0.555;SOR=0.516	GT:AD:DP:GQ:PL	0/1:22,41:63:99:1008,0,482	9	0	1	0
chr14	23101429	23101429	G	T	exonic	LMLN2	.	nonsynonymous SNV	LMLN2:NM_001354640:exon13:c.C1612A:p.P538T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16066426	0.30157	T	.	.	.	.	.	.	.	.	.	0.13372577843733077	0.13296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384162	0.09403	T	0.12466957	0.29245	0.21152586	0.45585	0.12466957	0.29244	0.21152586	0.45584	-4.355	0.28941	T	.	.	0.075	0.05535	B	.;.	.;.	2.066697	0.26282	17.06	0.60911711600687635	0.06579	0.56326	0.30088	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999943124698134	0.47345	0.074388	0.01536	0	0.060609	0.00678	0	0.091713	0.02954	0	0.058706	0.01089	0	0.148253	0.27256	4.9	0.577	0.16569	0.976000	0.29059	3.043000	0.36089	0.676000	0.76740	0.868000	0.30757	0.940000	0.28757	0.366000	0.26021	0.2761:0.1608:0.5631:0.0	4.624	0.11853	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	35.35	.	chr14	23101429	.	G	T	35.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	0	1	6
chr14	23182829	23182829	G	A	exonic	SLC7A8	.	nonsynonymous SNV	SLC7A8:NM_012244:exon1:c.C86T:p.S29F	.	422	1048	49	3	0	55	0.0255695	.	.	.	702816	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.487	.	0.0028	0.0081869	0.0080	0.0003	0.0014	0	0.0006	0.0045	0.0067	0.0400	0.0070762	1094	154602	rs149980964	0.0047	0.0047	0.0036	0.0058	0.0380	0.0046	0.0046	0.0369	0.0365	0.0007	0.0019	0.0038	2.519e-05	0.0004	0.0196	0.0027	0.0050	0.0380	0.0032	0.0032	0.0028	0.0035	0.0345	0.0029	0.0028	0.0302	0.0286	0.0004	0	0.0016	0.0055	0	0.0002	0.0238	0.0035	0.0033	0.0345	0.017	0.57480	D	0.013	0.63109	D	0.832	0.46138	P	0.372	0.43610	B	0.341355	0.04190	N	1.418020	0.992952	0.41792	D	0.805	0.20218	L	-2.77	0.94729	D	-1.63	0.55181	N	0.273	0.30914	-0.1033	0.80023	T	0.687	0.89202	D	10	0.0052812696	0.00115	T	.	.	.	0.487	0.77528	.	.	0.909297500959	0.90839	0.3522502682804079	0.35139	0.297628983758	0.32147	0.453847408295	0.32470	T	0.361478	0.72755	T	-0.122026	0.32792	T	0.0805097	0.75612	D	0.0209146189981329	0.00792	T	0.665033	0.27384	T	0.2062962	0.42800	0.25939348	0.51687	0.16817287	0.37258	0.25939348	0.51686	-8.313	0.63183	D	.	.	0.099	0.35726	B	.;.;.;.	.;.;.;.	4.600120	0.72850	25.9	0.99476875340855098	0.66633	0.76768	0.37677	D	ALL	0.757503	0.69644	D	0.289633842244921	0.55621	3.726227	0.403552687569752	0.61787	4.383672	0.999999999999875	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.504199	0.09095	0	0.56751	0.32155	0	.	.	5.45	5.45	0.79688	5.488000	0.66589	11.809000	0.96880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.0:0.0:1.0:0.0	16.771	0.85399	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.008152	0.005848	0.000000	0.008621	0.003049	0.045455	0.05	2478.43	33	chr14	23182829	.	G	A	2478.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.452;DP=523;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.298;SOR=0.68	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1190	9	0	1	0
chr14	23285925	23285925	C	T	exonic	HOMEZ	.	nonsynonymous SNV	HOMEZ:NM_020834:exon1:c.G28A:p.G10R	.	421	1100	0	1	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	0.00339457	0.0008	0	0	0	0	0	0	0.0093	0.0001682	26	154602	rs574905765	0.0002	0.0002	0.0002	0.0002	0.0082	0.0001	0.0001	0.0071	0.0068	4.346e-05	0	0	0	0	0	4.351e-06	0.0005	0.0082	0.0003	0.0003	0.0003	0.0004	0.0101	0.0002	0.0002	0.0079	0.0071	0	0	0	0	0	0	0	0	0	0.0101	0.001	0.78490	D	0.014	0.62352	D	0.989	0.62824	D	0.78	0.57283	P	.	.	.	.	0.977914	0.25282	N	0.695	0.17993	N	1.87	0.24085	T	-0.13	0.08971	N	0.532	0.56058	-1.0397	0.17404	T	0.062	0.25672	T	9	0.005702764	0.00127	T	.	.	.	0.151	0.39764	0.14	0.04369	0.263612267334	0.25957	0.2025584626545933	0.20172	0.792395878922	0.65867	0.603882133961	0.53452	T	0.001262	0.00750	T	-0.0885595	0.38314	T	-0.364986	0.37474	T	0.231095100431045	0.22003	T	0.559344	0.19537	T	0.13755773	0.31846	0.36332995	0.61721	0.13755773	0.31846	0.36332995	0.61721	-4.129	0.25716	T	.	.	0.273	0.50727	B	.	.	4.340145	0.66570	25.0	0.99271057017739528	0.57559	0.93361	0.58011	D	ALL	0.479641	0.52170	N	0.170033649029313	0.49764	3.173159	0.241264890870763	0.52155	3.392173	0.999999998939216	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.44	4.55	0.55429	3.797000	0.55219	4.534000	0.43737	-0.224000	0.07868	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1591:0.8409:0.0:0.0	13.338	0.59966	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003922	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.008065	0.05	309.43	35	chr14	23285925	.	C	T	309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.762;DP=333;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.13;SOR=0.283	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,946	9	0	1	0
chr14	23308862	23308862	G	A	exonic	BCL2L2	.	nonsynonymous SNV	BCL2L2:NM_001199839:exon4:c.G479A:p.R160Q,BCL2L2:NM_004050:exon4:c.G479A:p.R160Q	.	.	.	.	.	.	.	.	.	.	.	4104580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0164691185205	.	.	1.822e-05	0	0	0.0001	0	0	0	0.0001	1.29e-05	2	154602	rs767993294	5.138e-06	8.893e-06	6.583e-06	3.571e-06	0.0002	1.85e-06	1.21e-06	1.176e-05	4.4e-06	0	0	0	0	0	0.0002	2.087e-06	2.143e-05	7.105e-05	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.063	0.36709	T	0.037	0.51737	D	0.947	0.53479	P	0.302	0.41118	B	0.108884	0.19508	N	0.451191	1	0.81001	D	1.01	0.25309	L	0.91	0.44856	T	-1.34	0.33401	N	0.301	0.34012	-1.0864	0.06155	T	0.062	0.25923	T	10	0.24105573	0.41276	T	0.016469	0.37742	T	0.156	0.40720	0.609	0.74182	0.542808479177	0.53935	0.3676738268793131	0.36681	0.78301716889	0.65381	.	.	.	0.061143	0.31575	T	-0.192807	0.21846	T	-0.289028	0.45873	T	0.503133535385132	0.32744	D	0.867613	0.56877	D	0.264064	0.49472	0.1682662	0.38773	0.264064	0.49472	0.1682662	0.38772	-4.433	0.30001	T	.	.	0.123	0.25785	B	.	.	4.708127	0.75603	26.4	0.99856397183915924	0.93548	0.89176	0.49484	D	AEFDBI	0.531010	0.55147	D	0.180101087217974	0.50244	3.216341	0.271643130234481	0.53890	3.555912	0.999999757456772	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.37	4.48	0.53973	5.658000	0.67673	9.858000	0.82036	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.086:0.0:0.914:0.0	11.709	0.50878	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1721.43	36	chr14	23308862	.	G	A	1721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=1.42;SOR=0.638	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr14	23375867	23375867	G	A	exonic	IL25	.	nonsynonymous SNV	IL25:NM_022789:exon2:c.G521A:p.R174H,IL25:NM_172314:exon3:c.G473A:p.R158H	.	425	1086	11	0	0	11	0.00503894	.	.	.	714071	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0241501088893	0.0064	0.00259585	0.0055	0.0021	0.0034	0	0.0008	0.0079	0.0056	0.0040	0.005705	882	154602	rs148309201	0.0079	0.0079	0.0079	0.0079	0.0142	0.0078	0.0077	0.0117	0.0108	0.0018	0.0053	0.0087	0	0.0011	0.0142	0.0092	0.0067	0.0037	0.0057	0.0057	0.0059	0.0054	0.0084	0.0054	0.0052	0.0079	0.0076	0.0022	0	0.0074	0.0112	0	0.0009	0.0102	0.0084	0.0071	0.0041	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.001206	0.39820	N	0.115089	0.833872	0.34960	D	1.895	0.50365	L	0.46	0.56281	T	-4.43	0.77554	D	0.463	0.49965	-0.5781	0.65692	T	0.170	0.51003	T	10	0.011588514	0.00253	T	0.02415	0.47134	T	0.190	0.46781	.	.	0.739739496051	0.73740	0.4604227492752098	0.45960	0.48238453677	0.47196	0.68981552124	0.65679	T	0.703597	0.91487	D	-0.271127	0.11632	T	-0.154412	0.58852	T	0.0287704795290709	0.01803	T	0.828317	0.49240	T	0.25198415	0.48211	0.1481424	0.35030	0.25198415	0.48211	0.1481424	0.35029	-7.247	0.55911	T	.	.	0.220	0.47687	B	.;.	.;.	5.078519	0.84746	28.4	0.99946896847765299	0.99913	0.88417	0.48335	D	AEFBI	0.346308	0.44117	N	0.483332927641002	0.66117	4.909	0.478738896455998	0.66585	4.971046	0.999992319827676	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.616487	0.41570	0	0.542086	0.14980	0	.	.	4.58	4.58	0.56077	2.638000	0.46228	5.662000	0.49222	0.662000	0.56354	0.978000	0.35038	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	12.739	0.56615	373	0.84140	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.010870	0.002924	0.000000	0.034483	0.006098	0.003788	0.05	905.43	33	chr14	23375867	.	G	A	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.463;DP=416;ExcessHet=0;FS=1.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=-0.072;SOR=0.463	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	9	0	1	0
chr14	23389488	23389488	C	G	exonic	MYH6	.	nonsynonymous SNV	MYH6:NM_002471:exon28:c.G3883C:p.E1295Q	Atrial septal defect 3;Cardiomyopathy, dilated, 1EE;Cardiomyopathy, hypertrophic, 14	0	1492	30	0	0	30	0.00995355	.	.	.	53659	Hypertrophic_cardiomyopathy_14|Cardiomyopathy|not_specified|Restrictive_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0013197,MedGen:C2750467,OMIM:613251|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196,Orphanet:217632|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN230736|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.768	.	0.0030	0.00419329	0.0032	0.0006	0.0020	0.0175	0.0002	0.0026	0.0011	0.0024	0.003247	502	154602	rs34935550	0.0031	0.0031	0.0032	0.0031	0.0125	0.0031	0.0030	0.0116	0.0112	0.0007	0.0025	0.0015	0.0125	0.0002	0.0028	0.0031	0.0036	0.0022	0.0027	0.0027	0.0028	0.0027	0.0166	0.0025	0.0024	0.0138	0.0127	0.0006	0	0.0031	0.0017	0.0166	0.0003	0.0102	0.0033	0.0033	0.0027	0.001	0.78490	D	0.031	0.53788	D	0.993	0.65571	D	0.952	0.69102	D	.	.	.	.	0.999999	0.58761	D	3.02	0.86243	M	-1.55	0.81727	D	-2.12	0.48184	N	0.422	0.49420	0.499	0.90527	D	0.623	0.86718	D	9	0.010231346	0.00228	T	.	.	.	0.768	0.92170	.	.	0.925674000131	0.92491	0.4420870300183488	0.44125	0.787938224428	0.65625	0.565877318382	0.48096	T	0.664995	0.89991	D	-0.234432	0.16067	T	-0.0965478	0.63665	T	0.0172787489390638	0.00469	T	0.955504	0.83071	D	0.2839171	0.51421	0.34163815	0.59901	0.28292412	0.51327	0.43828914	0.67220	-14.923	0.95669	D	0.5510836441010479	0.61968	0.363	0.57386	A	.;.	.;.	4.496248	0.70279	25.5	0.99857872241100321	0.93639	0.98380	0.82188	D	AEFBI	0.962112	0.98360	D	0.862928964111963	0.89831	10.136	0.775668712946799	0.88058	9.441128	0.999999999913264	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.63	4.63	0.57175	7.764000	0.84130	7.576000	0.60835	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:1.0:0.0:0.0	17.870	0.88723	368	0.84463	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	1774.43	42	chr14	23389488	.	C	G	1774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=483;ExcessHet=0;FS=6.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.097;SOR=0.365	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr14	23531576	23531576	C	T	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon4:c.G2705A:p.R902H	.	393	1114	15	0	0	15	0.00668747	.	.	.	3191719	ZFHX2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.0155751	0.0380	0.0162	0.0063	0.0051	0	0.0013	0.0156	0.0733	0.0036545	565	154602	rs148020870	0.0039	0.0038	0.0025	0.0055	0.0568	0.0038	0.0038	0.0554	0.0548	0.0099	0.0014	0	0.0039	0	0.0032	0.0002	0.0051	0.0568	0.0049	0.0049	0.0040	0.0058	0.0566	0.0046	0.0045	0.0511	0.0490	0.0101	0	0.0008	0	0.0023	0	0.0068	0.0002	0.0033	0.0566	0.027	0.46513	D	0.094	0.39645	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	2.34	0.67151	M	0.9	0.45248	T	-3.13	0.63901	D	0.18	0.19459	-0.8106	0.54514	T	0.161	0.49581	T	7	0.0037321448	0.00069	T	.	.	.	0.174	0.44019	.	.	.	.	0.271241138993447	0.27037	.	.	0.613954544067	0.54874	T	0.056259	0.30239	T	-0.522274	0.00427	T	-0.484257	0.23994	T	0.0399341496308989	0.03678	T	0.582242	0.21111	T	0.08627552	0.20047	0.11204465	0.27031	0.08627552	0.20047	0.11204465	0.27030	-4.944	0.36226	T	.	.	0.104	0.19032	B	.	.	4.085529	0.60807	24.3	0.9956597254583005	0.72075	0.82169	0.41438	D	AEFBI	0.319662	0.42300	N	-0.0173769985703705	0.41070	2.45002	0.0325634016637101	0.41236	2.474089	0.997430786393656	0.35614	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.26	4.37	0.51830	2.804000	0.47628	0.270000	0.16646	-0.171000	0.11205	0.982000	0.35529	0.010000	0.20010	0.970000	0.54328	0.0:0.9145:0.0:0.0855	11.371	0.48940	526	0.73951	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008565	0.000000	0.009091	0.000000	0.000000	0.000000	0.000000	0.028302	0.05	1615.43	33	chr14	23531576	.	C	T	1615.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=430;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-1.505;SOR=0.59	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	9	0	1	0
chr14	24048199	24048199	C	T	exonic	DHRS4	.	unknown	UNKNOWN	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.935e-07	6.84e-07	1.38e-06	0	2.588e-05	0	0	.	.	0	0	0	2.588e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1845.43	140	chr14	24048199	.	C	T	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.453;DP=458;ExcessHet=0;FS=2.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-2.45;SOR=0.889	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1361	9	0	1	0
chr14	24050918	24050918	C	A	exonic	DHRS4;DHRS4L1	.	nonsynonymous SNV	DHRS4L1:NM_001277864:exon5:c.C403A:p.L135I	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	0.0002	0.000199681	0.0003	0.0002	0.0015	0.0005	0	0.0002	0	0.0002	0.0003169	49	154602	rs2759413	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0005	0.0001	0.0008	0	0.0005	0	0.0009	0.0001	0.0003	0.0003	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.694e-05	0.0001	8.876e-05	0.0001	0	0.0003	0	0	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5487.14	224	chr14	24050918	.	C	A	5487.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.71;DP=1041;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.64;MQRankSum=-4.16;QD=11.75;ReadPosRankSum=-0.666;SOR=0.709	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	8	0	2	0
chr14	24050936	24050936	A	G	exonic	DHRS4;DHRS4L1	.	nonsynonymous SNV	DHRS4L1:NM_001277864:exon5:c.A421G:p.M141V	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0003	.	0.0002	0.0002	8.663e-05	0	0	0.0001	0	0.0009	0.0001746	27	154602	rs201276410	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0007	0.0006	0.0005	4.49e-05	0	2.526e-05	1.88e-05	0	0.0001	0.0002	0.0008	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4517.14	191	chr14	24050936	.	A	G	4517.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.08;DP=963;ExcessHet=0.2348;FS=0.39;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.05;MQRankSum=-4.803;QD=11.61;ReadPosRankSum=0.885;SOR=0.648	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	8	0	2	0
chr14	24141246	24141246	C	T	exonic	EMC9	.	nonsynonymous SNV	EMC9:NM_016049:exon2:c.G59A:p.R20Q	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0002	0.00579073	0.0032	0.0003	8.655e-05	0.0002	0	0	0.0022	0.0232	0.0028331	438	154602	rs150583293	0.0013	0.0013	0.0008	0.0018	0.0199	0.0012	0.0012	0.0191	0.0188	2.987e-05	8.944e-05	0	2.519e-05	0	0.0007	1.169e-05	0.0021	0.0199	0.0009	0.0010	0.0005	0.0015	0.0271	0.0008	0.0008	0.0233	0.0219	0.0001	0	0.0004	0	0.0002	0	0	1.47e-05	0	0.0271	0.109	0.29288	T	0.13	0.34716	T	0.529	0.37682	P	0.06	0.26717	B	0.000914	0.41128	D	0.216188	0.979536	0.81001	D	1.12	0.28775	L	0.87	0.46412	T	-1.68	0.40082	N	0.217	0.34981	-1.0315	0.19970	T	0.075	0.30179	T	10	0.0072508752	0.00165	T	.	.	.	0.079	0.23065	.	.	0.609044548629	0.60590	0.426052312909962	0.42522	0.824985354454	0.67349	0.668601870537	0.62638	T	0.054032	0.29610	T	-0.51395	0.00477	T	-0.49411	0.22961	T	0.0531274905308991	0.06040	T	.	.	.	0.40158123	0.60842	0.30719498	0.56741	0.40158123	0.60842	0.30719498	0.56740	-7.394	0.56862	T	.	.	0.144	0.31783	B	.;.	.;.	4.767813	0.77149	26.6	0.99889125635466325	0.96359	0.62928	0.31931	D	ALL	0.263379	0.38094	N	0.104468491624002	0.46670	2.903933	0.250130141003061	0.52656	3.439095	0.999999999999853	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	6.08	5.19	0.71428	2.092000	0.41326	7.658000	0.64072	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:0.9231:0.0:0.0769	13.100	0.58630	894	0.26265	MPN domain;MPN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1304.43	36	chr14	24141246	.	C	T	1304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.34;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=0.817;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1153	9	0	1	0
chr14	24143672	24143672	C	A	splicing	PSME2	NM_002818:exon10:c.553-1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.95	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43696	0.91876	D	0.389887	0.91775	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.133274	0.61874	24.4	0.99471592993268099	0.66365	0.98068	0.79327	D	AEFDBIJ	.	.	.	1.08724664359533	0.97891	16.97304	0.920777600714814	0.96416	14.67008	0.999999999967731	0.74766	0.163922	0.03765	0	0.177374	0.04040	0	0.231597	0.04857	0	0.117559	0.03655	0	0.985519	0.93241	4.84	4.84	0.62125	5.776000	0.68576	7.691000	0.65788	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:1.0:0.0:0.0	13.618	0.61590	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1948.43	34	chr14	24143672	.	C	A	1948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.833;DP=493;ExcessHet=0;FS=1.205;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=0.988;QD=11.6;ReadPosRankSum=-1.565;SOR=0.659	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	9	0	1	0
chr14	24149570	24149570	C	A	exonic	RNF31	.	nonsynonymous SNV	RNF31:NM_001310332:exon6:c.C343A:p.H115N,RNF31:NM_017999:exon6:c.C796A:p.H266N	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00655531646369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.621	0.06067	T	0.878	0.10281	T	0.0	0.02946	B	0.0	0.01387	B	0.414412	0.04610	N	1.309680	1	0.08975	N	0.92	0.23413	L	1.05	0.39990	T	0.55	0.05810	N	0.111	0.22998	-1.0252	0.22017	T	0.059	0.24686	T	10	0.06604561	0.09000	T	0.006555	0.17272	T	0.084	0.24469	0.347	0.34274	0.244449712813	0.24043	0.20266360450272064	0.20183	0.252073141098	0.27777	0.294397741556	0.09568	T	0.00753	0.34196	T	-0.289613	0.09675	T	-0.653785	0.08691	T	0.0179717298597097	0.00522	T	.	.	.	0.023374422	0.01072	0.029758358	0.01349	0.023374422	0.01072	0.029758358	0.01349	-4.624	0.32472	T	.	.	0.071	0.06990	B	.;.;.	.;.;.	0.323424	0.06979	3.530	0.71044425411811074	0.09496	0.02876	0.07652	N	AEFBI	0.055604	0.10210	N	-1.05838494714626	0.07424	0.3448295	-1.03619927359785	0.08996	0.4452201	0.999588634556469	0.40607	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	0.041	0.13529	0.015000	0.13250	0.549000	0.19403	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.235000	0.22869	0.6337:0.2868:0.0:0.0795	8.964	0.35026	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2137.14	98	chr14	24149570	.	C	A	2137.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.253;DP=483;ExcessHet=0.2348;FS=1.175;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.42;SOR=0.568	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1169	8	0	2	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	404.66	126	chr14	24300437	.	G	C	404.66	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.58;DP=1123;ExcessHet=2.8389;FS=300.645;InbreedingCoeff=-0.4294;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.59;SOR=10.2	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	3	0	5	2
chr14	24310669	24310669	C	T	exonic	LTB4R2	.	nonsynonymous SNV	LTB4R2:NM_001164692:exon2:c.C5T:p.S2L,LTB4R2:NM_019839:exon2:c.C5T:p.S2L	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0106179548891	.	0.000199681	0.0002	0	0	0	0	1.522e-05	0	0.0010	0.0001229	19	154602	rs575238153	5.541e-05	5.609e-05	2.995e-05	8.114e-05	0.0008	4.544e-05	4.156e-05	0.0007	0.0006	0	0	0	0	0	0	4.496e-06	6.623e-05	0.0008	3.282e-05	3.281e-05	2.569e-05	4.026e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.127	0.27080	T	0.35	0.19480	T	0.001	0.07471	B	0.0	0.01387	B	0.408713	0.04578	U	1.517720	0.999921	0.19486	N	0	0.06538	N	-1.16	0.78082	T	-2.0	0.46146	N	0.056	0.02759	-0.9299	0.44153	T	0.219	0.58150	T	10	0.013765156	0.00291	T	0.010618	0.27366	T	0.128	0.35103	0.334	0.32167	0.638171007754	0.63519	0.25704236242867395	0.25618	0.469351748334	0.46246	0.434974372387	0.29890	T	0.074827	0.35033	T	-0.381737	0.03038	T	-0.371556	0.36708	T	0.0321499514188364	0.02331	T	.	.	.	0.057551198	0.11466	0.040677525	0.04453	0.057551198	0.11466	0.040677525	0.04452	.	.	.	.	.	0.211	0.46619	B	.;.;.;.;.	.;.;.;.;.	1.923299	0.24430	16.39	0.95749691036000062	0.27721	0.01192	0.04260	N	ALL	0.053900	0.09753	N	-1.15837124410478	0.05643	0.2578083	-1.15712379803205	0.06640	0.3203383	0.999999982781329	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.723109	0.80598	0	0.372554	0.06265	0	.	.	4.23	-2.29	0.06419	-0.468000	0.06733	-0.055000	0.12496	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.985000	0.61073	0.1553:0.2955:0.0:0.5492	5.001	0.13610	856	0.34373	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2064.43	37	chr14	24310669	.	C	T	2064.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.515;DP=480;ExcessHet=0;FS=5.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=0.45;SOR=0.569	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	9	0	1	0
chr14	24332541	24332541	C	T	exonic	ADCY4	.	nonsynonymous SNV	ADCY4:NM_001198568:exon3:c.G500A:p.R167Q,ADCY4:NM_001198592:exon4:c.G500A:p.R167Q,ADCY4:NM_139247:exon4:c.G500A:p.R167Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.037277965866	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447016026	4.937e-06	8.209e-06	6.976e-06	2.852e-06	6.423e-06	2.05e-06	1.32e-06	2.67e-06	1.72e-06	0	0	0	0	0	0	6.423e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.639	0.05017	T	0.716	0.05416	T	0.0	0.02946	B	0.001	0.04355	B	0.467241	0.12321	N	0.646993	1	0.19072	N	0.065	0.08236	N	-0.96	0.75553	T	-0.3	0.23156	N	0.131	0.15046	-1.0020	0.29342	T	0.135	0.44875	T	10	0.048568368	0.04325	T	0.037278	0.57516	D	0.108	0.30607	0.414	0.45216	0.670132254285	0.66734	0.23812938894918	0.23726	0.37491474956	0.38949	0.31044319272	0.11973	T	0.202058	0.56012	T	-0.188666	0.22454	T	-0.508782	0.21441	T	0.125031247735023	0.14915	T	.	.	.	0.019070987	0.00433	0.020233147	0.00125	0.019070987	0.00432	0.020233147	0.00125	-4.376	0.29230	T	.	.	0.073	0.04640	B	.;.;.;.	.;.;.;.	1.860289	0.23633	16.09	0.97435813520352332	0.33951	0.08882	0.14743	N	ALL	0.058908	0.11086	N	-1.1553121147527	0.05693	0.2601975	-1.12852969905383	0.07159	0.3471963	0.999999998517661	0.74766	0.751926	0.98777	0	0.552344	0.17405	0	0.503968	0.08637	0	0.683672	0.66515	0	.	.	5.31	-1.73	0.07646	-0.028000	0.12299	-2.781000	0.03368	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1263:0.3725:0.0:0.5012	6.035	0.18930	856	0.34373	Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;Adenylate cyclase, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1335.43	87	chr14	24332541	.	C	T	1335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=498;ExcessHet=0;FS=0.819;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.154;SOR=0.885	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1259	9	0	1	0
chr14	24440849	24440849	C	T	exonic	SDR39U1	.	nonsynonymous SNV	SDR39U1:NM_001290292:exon4:c.G160A:p.V54I,SDR39U1:NM_001290293:exon4:c.G82A:p.V28I,SDR39U1:NM_001308075:exon4:c.G160A:p.V54I,SDR39U1:NM_020195:exon5:c.G406A:p.V136I	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.207122279023	0.0020	0.00159744	0.0022	0.0002	0.0020	0.0001	0.0006	0.0033	0.0011	0.0012	0.0021669	335	154602	rs145788637	0.0022	0.0022	0.0021	0.0023	0.0087	0.0021	0.0021	0.0068	0.0061	0.0005	0.0017	0.0012	2.519e-05	0.0006	0.0087	0.0024	0.0025	0.0013	0.0019	0.0019	0.0019	0.0018	0.0029	0.0017	0.0016	0.0025	0.0023	0.0006	0	0.0029	0.0006	0	0.0011	0.0034	0.0028	0.0024	0.0006	0.027	0.52492	D	0.026	0.56192	D	0.997	0.90584	D	0.805	0.66185	P	0.000002	0.62929	D	0.058506	1	0.81001	D	.	.	.	-3.18	0.93111	D	-0.44	0.14588	N	0.416	0.45615	0.737	0.93629	D	0.817	0.93826	D	10	0.009403825	0.00212	T	0.207122	0.87076	D	0.249	0.55752	.	.	0.410734915765	0.40690	0.5117001049876125	0.51092	0.296933290066	0.32082	0.500692129135	0.38925	T	0.044031	0.28183	T	-0.117435	0.33543	T	0.0561152	0.73987	D	0.0470243884598374	0.04969	T	0.916808	0.78426	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.40246	B	.;.;.;.	.;.;.;.	4.619124	0.73326	26.0	0.99872630228971726	0.94989	0.93568	0.58573	D	AEFDBHCI	0.645438	0.62133	D	0.669163444638782	0.77613	6.70868	0.678643797607919	0.80760	7.371155	1.0	0.98316	0.722319	0.85440	0	0.696144	0.67643	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.74	5.74	0.90070	5.642000	0.67561	2.199000	0.31271	0.599000	0.40250	1.000000	0.71638	0.976000	0.30059	0.990000	0.65344	0.0:1.0:0.0:0.0	17.412	0.87380	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.002717	0.000000	0.000000	0.008621	0.015244	0.003788	0.05	907.43	39	chr14	24440849	.	C	T	907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.78;SOR=0.62	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr14	24606737	24606737	C	T	exonic	GZMH	.	nonsynonymous SNV	GZMH:NM_001270781:exon4:c.G349A:p.G117R,GZMH:NM_001270780:exon5:c.G415A:p.G139R,GZMH:NM_033423:exon5:c.G607A:p.G203R	.	.	.	.	.	.	.	.	.	.	.	3975019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.890	0.549553678389	.	.	1.66e-05	0	8.663e-05	0	0	1.507e-05	0	0	1.29e-05	2	154602	rs764634951	2.122e-05	2.189e-05	2.179e-05	2.064e-05	6.96e-05	1.521e-05	1.325e-05	2.996e-05	2.039e-05	0	4.476e-05	0	0	0	0	2.069e-05	0	6.96e-05	1.971e-05	1.97e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.005	0.63226	D	0.007	0.69154	D	1.0	0.90584	D	0.979	0.74454	D	.	.	.	.	1	0.81001	D	3.915	0.96218	H	-7.35	0.99869	D	-7.83	0.96005	D	0.872	0.86941	0.922	0.95981	D	0.995	0.99891	D	9	0.9896029	0.99430	D	0.549554	0.95841	D	0.890	0.96836	0.943	0.99256	0.963663113909	0.96327	0.8861562489663117	0.88584	0.582923355691	0.54028	0.3908213377	0.23786	T	0.86765	0.97114	D	0.374541	0.88355	D	0.481753	0.94252	D	0.861749039826265	0.51210	D	0.952105	0.81652	D	0.8744763	0.89219	0.70642763	0.82692	0.8744763	0.89220	0.70642763	0.82693	-8.35	0.63431	D	.	.	0.781	0.76403	P	.;.;.	.;.;.	3.547767	0.49856	22.8	0.99898618594865962	0.97124	0.90382	0.51513	D	AEFBI	0.315757	0.42024	N	0.621379928297767	0.74530	6.148138	0.426087380243552	0.63196	4.548546	0.999916337980434	0.45857	0.487112	0.14033	0	0.491513	0.07743	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	3.081000	0.49818	1.369000	0.25941	0.599000	0.40250	0.771000	0.29368	0.001000	0.17328	0.044000	0.14658	0.0:1.0:0.0:0.0	13.495	0.60879	328	0.86572	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	630.43	34	chr14	24606737	.	C	T	630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=377;ExcessHet=0;FS=0.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=1.89;SOR=0.475	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	9	0	1	0
chr14	31388867	31388867	T	C	exonic	HEATR5A	.	nonsynonymous SNV	HEATR5A:NM_015473:exon7:c.A911G:p.D304G	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.0582623433711	0.0007	0.000798722	0.0007	0	0.0009	0	0.0005	0.0010	0	0.0005	0.0006468	100	154602	rs191067821	0.0005	0.0005	0.0005	0.0006	0.0125	0.0005	0.0005	0.0102	0.0093	0.0001	0.0009	0.0075	0	0.0001	0.0125	0.0003	0.0011	0.0006	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0004	0.0004	0.0003	7.221e-05	0	0.0007	0.0095	0	0	0.0034	0.0005	0.0019	0.0006	0.003	0.68238	D	0.009	0.66756	D	.	.	.	.	.	.	0.000037	0.55875	D	0.158036	0.999999	0.81001	D	.	.	.	3.18	0.07478	T	-4.13	0.75139	D	0.645	0.65673	-0.3083	0.74753	T	0.348	0.71241	T	10	0.010729134	0.00238	T	0.058262	0.67257	D	0.358	0.67872	.	.	0.146414634003	0.14194	0.5306783669414971	0.52991	.	.	0.668260812759	0.62590	T	0.21943	0.58244	T	-0.217696	0.18309	T	-0.144674	0.59711	T	0.092789273463035	0.11545	T	0.89781	0.64256	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55597	B	.	.	4.907205	0.80710	27.4	0.99799972095627087	0.88461	0.95259	0.64030	D	AEFDGBCIJ	0.900088	0.84522	D	0.699577363522754	0.79603	7.112982	0.714730928328987	0.83495	8.037151	0.999999999999977	0.74766	0.706548	0.73137	0	0.616935	0.53198	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.667000	0.82852	7.907000	0.73837	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.031	0.80381	452	0.79239	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	1872.43	104	chr14	31388867	.	T	C	1872.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.06;DP=928;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.016;SOR=0.772	GT:AD:DP:GQ:PL	0/1:77,83:160:99:1884,0,1717	9	0	1	0
chr14	35402838	35402838	G	A	exonic	NFKBIA	.	nonsynonymous SNV	NFKBIA:NM_020529:exon4:c.C569T:p.A190V	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1514483	Ectodermal_dysplasia_and_immunodeficiency_2	MONDO:MONDO:0012806,MedGen:C2677481,OMIM:612132,Orphanet:238468,Orphanet:98813	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.588	0.0568407870794	.	.	8.28e-06	9.768e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs762771956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.35165	T	0.108	0.39340	T	0.99	0.63424	D	0.611	0.51118	P	.	.	.	.	1	0.81001	D	3.13	0.88074	M	-0.48	0.86624	T	-2.73	0.58085	D	0.791	0.78737	0.410	0.89246	D	0.703	0.89771	D	9	0.8252135	0.81704	D	0.056841	0.66752	D	0.588	0.83526	0.761	0.88972	0.788136881447	0.78617	0.5042531426808894	0.50347	1.00777773327	0.74650	0.811534166336	0.83727	D	0.339903	0.70899	T	0.237	0.77396	D	0.102945	0.77102	D	0.952734164235456	0.63861	D	0.960104	0.84924	D	0.3966298	0.60498	0.38147318	0.63156	0.3966298	0.60499	0.38147318	0.63156	-11.849	0.84108	D	.	.	0.931	0.88388	P	.;.;.	.;.;.	4.965294	0.82135	27.7	0.99921648448150169	0.98787	0.95250	0.63996	D	AEFDBHCIJ	0.920131	0.89165	D	0.750973318430752	0.82969	7.895793	0.782016666846949	0.88515	9.611533	0.999999999999862	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.56214	0.19341	0	.	.	5.9	5.9	0.94952	7.730000	0.83827	11.914000	0.99653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.282	0.98522	496	0.76301	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1368.43	111	chr14	35402838	.	G	A	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.536;DP=657;ExcessHet=0;FS=3.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.768;SOR=0.427	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1002	9	0	1	0
chr14	35870416	35870416	G	A	exonic	BRMS1L	.	nonsynonymous SNV	BRMS1L:NM_032352:exon10:c.G911A:p.S304N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.00392158159419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.909e-07	6.16e-06	0	1.388e-06	3.036e-05	0	0	.	.	3.036e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.026	0.55759	D	0.421	0.35387	B	0.143	0.33763	B	0.000000	0.84330	D	0.111584	0.999995	0.58761	D	2.34	0.67151	M	.	.	.	-0.86	0.23372	N	0.351	0.39254	-0.6397	0.63158	T	0.253	0.62292	T	9	0.2619985	0.43664	T	0.003922	0.09242	T	0.206	0.49396	0.161	0.06507	0.43965937752	0.43585	0.547906895027508	0.54716	0.709260744387	0.61606	0.779643476009	0.78874	T	0.032588	0.22553	T	0.0293815	0.55641	T	-0.195572	0.55065	T	0.777600944042206	0.44900	D	0.785321	0.42297	T	0.2596511	0.49019	0.2739856	0.53323	0.2596511	0.49019	0.2739856	0.53322	-5.633	0.43093	T	.	.	0.317	0.54257	B	.	.	3.479125	0.48577	22.6	0.98770389585321949	0.45955	0.96420	0.69051	D	AEFGI	0.807404	0.73145	D	0.410616452888844	0.62004	4.409637	0.540354922838467	0.70728	5.548182	0.999998355966963	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	7.140000	0.76912	11.907000	0.99503	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.202	0.98265	732	0.54084	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	35.4	90	chr14	35870416	.	G	A	35.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.482;DP=915;ExcessHet=0;FS=286.556;InbreedingCoeff=-0.2127;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=1.23;SOR=8.468	GT:AD:DP:GQ:PL	./.:82,0:82:0:0,0,1545	4	0	1	5
chr14	37737735	37737735	G	T	splicing	TTC6	NM_001310135:exon11:c.2031+1G>T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.571e-07	2.737e-06	1.496e-06	0	1.425e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.425e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0762358	0.61597	D	-0.128269	0.61117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.678769	0.92986	33	0.97734275927851944	0.35640	0.90204	0.51197	D	AEFI	.	.	.	0.852358668422742	0.89243	9.892013	0.608181994401453	0.75533	6.327	0.0343265938859333	0.14149	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.936959	0.59767	3.95	3.95	0.44952	3.841000	0.55557	10.689000	0.83576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	11.814	0.51473	602	0.67834	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	145.43	45	chr14	37737735	.	G	T	145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.233;DP=420;ExcessHet=0;FS=1.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=-1.608;SOR=0.307	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr14	39247322	39247322	T	C	exonic	MIA2	.	nonsynonymous SNV	MIA2:NM_001329214:exon4:c.T748C:p.S250P,MIA2:NM_054024:exon4:c.T748C:p.S250P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0180242904035	0.0004	0.000199681	0.0003	9.654e-05	0.0002	0	0.0002	0.0004	0	0.0001	0.0003169	49	154602	rs150000006	0.0003	0.0003	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0	8.949e-05	0	0	0.0001	0	0.0003	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	9.626e-05	0	6.54e-05	0	0	9.42e-05	0	0.0004	0	0	0.005	0.68238	D	0.007	0.69154	D	0.963	0.55692	D	0.696	0.54017	P	0.062785	0.22072	N	0.234402	0.999961	0.18878	N	2.34	0.67151	M	2.98	0.52187	T	-1.38	0.58248	N	0.391	0.45331	-0.9320	0.43844	T	0.171	0.51197	T	9	0.07811263	0.12410	T	0.018024	0.39939	T	0.125	0.34456	.	.	0.667875860975	0.66507	0.07185426951506377	0.07122	0.159575760648	0.18006	0.290090382099	0.08935	T	0.170857	0.51876	T	-0.292187	0.09417	T	-0.325418	0.41978	T	0.103766178126393	0.12766	T	0.679332	0.28809	T	0.10668909	0.25228	0.21922196	0.46654	0.10668909	0.25228	0.21922196	0.46653	-4.394	0.31045	T	.	.	0.099	0.25331	B	.;.;.	.;.;.	2.360458	0.30275	18.39	0.99556822214461937	0.71521	0.68907	0.33981	D	AEFDGBIJ	0.558799	0.56787	D	-0.0490550108068739	0.39644	2.341261	-0.0958735666911628	0.35561	2.05879	0.999971675423615	0.50053	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	5.66	3.22	0.36041	1.985000	0.40289	0.887000	0.22442	-0.693000	0.04107	0.999000	0.42656	0.803000	0.26967	0.240000	0.23001	0.2668:0.0:0.2334:0.4999	5.826	0.17810	789	0.46346	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1239.43	42	chr14	39247322	.	T	C	1239.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.006;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.763;SOR=0.693	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr14	39401742	39401742	G	A	exonic	FBXO33	.	nonsynonymous SNV	FBXO33:NM_203301:exon3:c.C830T:p.A277V	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.245845068192	0.0003	.	0.0003	0.0002	0.0008	0	0	0.0003	0.0022	6.057e-05	0.0002717	42	154602	rs141687934	0.0002	0.0002	0.0002	0.0002	0.0045	0.0002	0.0002	0.0032	0.0027	0.0002	0.0008	0	5.038e-05	1.872e-05	0.0045	0.0002	0.0004	0.0004	0.0004	0.0004	0.0002	0.0005	0.0020	0.0003	0.0003	0.0014	0.0012	4.813e-05	0	0.0020	0	0	0	0.0068	0.0003	0	0.0002	0.011	0.55530	D	0.012	0.63918	D	0.787	0.44504	P	0.158	0.34617	B	0.000000	0.84330	D	0.049625	0.999984	0.81001	D	0.895	0.22405	L	5.49	0.00930	T	-0.9	0.24244	N	0.594	0.61341	-0.1690	0.78452	T	0.004	0.01159	T	9	0.16196457	0.30366	T	0.245845	0.88903	D	0.332	0.65424	.	.	0.123314135267	0.11883	0.6114688122011807	0.61078	0.707948958546	0.61520	0.546938180923	0.45425	T	0.06348	0.32186	T	-0.252461	0.13798	T	-0.229334	0.51836	T	0.034579134230063	0.02737	T	0.864413	0.56163	D	0.21543993	0.43977	0.2360266	0.48863	0.21543993	0.43977	0.2360266	0.48862	-6.516	0.50410	T	.	.	0.306	0.53448	B	.	.	3.962609	0.58130	23.9	0.99883531841964257	0.95892	0.96456	0.69229	D	AEFGBI	0.504859	0.53625	D	0.358613442614382	0.59196	4.097018	0.5037687476048	0.68245	5.193303	0.99992118080768	0.46280	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	6.03	6.03	0.97798	6.240000	0.72321	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	618	0.66225	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.025253	0.009511	0.002924	0.000000	0.000000	0.006098	0.003788	0.05	1271.43	36	chr14	39401742	.	G	A	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.826;DP=425;ExcessHet=0;FS=2.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.172;SOR=0.933	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1086	9	0	1	0
chr14	41886911	41886911	G	A	exonic	LRFN5	.	nonsynonymous SNV	LRFN5:NM_001346173:exon2:c.G286A:p.A96T,LRFN5:NM_001346175:exon2:c.G286A:p.A96T,LRFN5:NM_001330106:exon3:c.G286A:p.A96T,LRFN5:NM_152447:exon3:c.G286A:p.A96T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0463429250875	.	0.000199681	3.3e-05	0	0	0	0	5.998e-05	0	0	3.88e-05	6	154602	rs190113136	2.873e-05	2.873e-05	2.995e-05	2.75e-05	3.478e-05	2.151e-05	1.908e-05	2.201e-05	1.942e-05	0	0	0	0	0	0	3.058e-05	8.279e-05	3.478e-05	3.283e-05	3.937e-05	2.57e-05	4.029e-05	0.0002	1.26e-05	7.97e-06	1.171e-05	6.25e-06	2.407e-05	0	0	0	0	0	0	4.41e-05	0	0.0002	0.167	0.23095	T	0.329	0.18617	T	0.114	0.26387	B	0.041	0.23986	B	0.000029	0.55875	D	0.000000	0.99573	0.42830	D	0.745	0.18958	N	-2.87	0.91478	D	-1.77	0.44094	N	0.116	0.10911	-0.2484	0.76403	T	0.533	0.82704	D	10	0.14062768	0.26729	T	0.046343	0.62414	D	0.242	0.54781	.	.	0.675221151223	0.67246	0.44273030258019885	0.44190	0.448473399191	0.44675	0.78806078434	0.80147	T	0.45339	0.79335	T	-0.0764515	0.40289	T	-0.16169	0.58200	T	0.155839695069368	0.17559	T	0.916108	0.70062	D	0.27198014	0.50268	0.18952228	0.42304	0.27198014	0.50268	0.18952228	0.42303	-4.67	0.33039	T	.	.	0.104	0.23077	B	.;.;.	.;.;.	3.067864	0.41228	21.3	0.98371675876868403	0.40760	0.88422	0.48343	D	AEFI	0.264110	0.38152	N	-0.204656148453699	0.32942	1.863424	-0.0233301592671784	0.38663	2.281137	9.2565625324299E-4	0.08013	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.56	4.64	0.57399	3.670000	0.54305	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.6678:0.3322	11.265	0.48339	922	0.19044	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1654.43	34	chr14	41886911	.	G	A	1654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=423;ExcessHet=0;FS=1.515;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=0.32;SOR=0.865	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1023	9	0	1	0
chr14	44504934	44504934	A	G	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.T2054C:p.L685P	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0108	0.0255591	0.0061	0.0671	0.0032	0	0	0.0003	0.0011	0.0004	0.0056144	868	154602	rs8008803	0.0003	0.0003	0.0003	0.0002	0.0096	0.0003	0.0002	0.0087	0.0083	0.0096	0.0008	0	2.519e-05	0	0.0014	1.169e-05	0.0008	9.284e-05	0.0091	0.0092	0.0096	0.0085	0.0321	0.0087	0.0085	0.0306	0.0301	0.0321	0	0.0044	0	0	0	0.0035	0.0002	0.0077	0.0002	0.142	0.25457	T	0.283	0.21478	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	2.69	0.12268	T	1.12	0.01197	N	0.038	0.01203	-0.9414	0.42394	T	0.002	0.00556	T	9	0.0028251708	0.00045	T	.	.	.	0.019	0.03383	.	.	0.0401082797425	0.02173	0.02732859035036624	0.02682	0.0141039558421	0.01346	0.280728876591	0.07593	T	6.5E-4	0.00285	T	-0.781243	0.00011	T	-0.873348	0.00712	T	0.00985670617385135	0.00130	T	0.223178	0.02888	T	0.043087162	0.06653	0.092899606	0.21915	0.043087162	0.06652	0.092899606	0.21914	-1.485	0.01734	T	.	.	0.058	0.00636	B	.	.	-0.764750	0.01179	0.057	0.60604691924468235	0.06504	0.00061	0.00447	N	AEFI	0.025746	0.01815	N	-1.56568496102207	0.01445	0.06304069	-1.57578094942116	0.01804	0.08214708	9.30797760855103E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	-4.08	0.03696	-0.473000	0.06694	-20.000000	0.00162	-2.282000	0.00327	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7051:0.0:0.2949:0.0	12.498	0.55282	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016616	0.015152	0.032609	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	1461.43	81	chr14	44504934	.	A	G	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.171;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.33;MQRankSum=-1.45;QD=18.04;ReadPosRankSum=1.1;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800:.	9	0	1	0
chr14	44504938	44504938	A	G	exonic	FSCB	.	nonsynonymous SNV	FSCB:NM_032135:exon1:c.T2050C:p.S684P	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0108	0.0255591	0.0061	0.0672	0.0032	0.0001	0	0.0003	0.0011	0.0004	0.0056209	869	154602	rs8008805	0.0003	0.0003	0.0003	0.0002	0.0096	0.0002	0.0002	0.0087	0.0083	0.0096	0.0008	0	2.519e-05	0	0.0014	1.169e-05	0.0008	9.284e-05	0.0090	0.0093	0.0096	0.0084	0.0321	0.0086	0.0085	0.0306	0.0300	0.0321	0	0.0044	0	0	0	0.0035	0.0002	0.0072	0.0002	0.266	0.16251	T	0.209	0.26798	T	0.001	0.07471	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.475	0.13142	N	2.51	0.14284	T	-0.51	0.15986	N	0.022	0.00372	-0.9601	0.39162	T	0.002	0.00738	T	9	0.002448231	0.00037	T	.	.	.	0.026	0.05648	.	.	0.0138822411134	0.00435	0.030634685220179425	0.03012	0.0137362579172	0.01312	0.324154227972	0.14049	T	0.004258	0.03670	T	-0.793024	0.00009	T	-0.892976	0.00553	T	0.00113477713204514	0.00011	T	0.315368	0.06236	T	0.044857595	0.07242	0.050050046	0.07775	0.044857595	0.07242	0.050050046	0.07774	-1.787	0.02470	T	.	.	0.084	0.09530	B	.	.	-1.477364	0.00309	0.005	0.50773073315649619	0.04443	0.00498	0.02351	N	AEFI	0.034835	0.04386	N	-1.61020402892252	0.01214	0.05280329	-1.70666434052638	0.01108	0.04980591	2.60964402859101E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	-6.13	0.01937	-3.130000	0.00652	-20.000000	0.00162	-1.714000	0.00739	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.207:0.236:0.1039	2.312	0.03934	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016616	0.015152	0.031250	0.020468	0.000000	0.008621	0.000000	0.000000	0.05	1464.43	80	chr14	44504938	.	A	G	1464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=724;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.3;MQRankSum=-1.422;QD=18.31;ReadPosRankSum=-0.036;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:64,0:64:99:.:.:0,120,1800:.	9	0	1	0
chr14	45175794	45175794	G	T	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon13:c.G2962T:p.G988C,FANCM:NM_020937:exon14:c.G3040T:p.G1014C	.	0	1518	4	0	0	4	0.00131579	.	.	.	241837	FANCM-related_disorder|not_provided|Fanconi_anemia|not_specified	.|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0037	0.00499201	0.0014	0.0156	0.0006	0	0	0	0	6.061e-05	0.001313	203	154602	rs77532752	0.0004	0.0004	0.0005	0.0003	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0008	0	0	0	0.0005	2.698e-06	0.0009	4.638e-05	0.0037	0.0037	0.0038	0.0037	0.0129	0.0035	0.0034	0.0120	0.0117	0.0129	0	0.0012	0	0	0	0.0034	2.942e-05	0.0028	0.0002	0.061	0.37326	T	0.116	0.36901	T	0.001	0.07471	B	0.003	0.08700	B	0.026000	0.01641	N	1.940980	1	0.08975	N	0.55	0.14455	N	2.76	0.18875	T	-2.11	0.50175	N	0.136	0.28849	-1.0210	0.23389	T	0.014	0.05705	T	10	0.0043438375	0.00088	T	.	.	.	0.030	0.07022	.	.	0.397838977388	0.39401	0.41709074337779184	0.41625	0.0920060912428	0.10386	0.226987525821	0.01753	T	0.252386	0.62277	T	-0.654553	0.00068	T	-0.700672	0.05789	T	0.000781367293533466	0.00007	T	0.572443	0.21465	T	0.1622571	0.36289	0.076701425	0.17015	0.12618388	0.29562	0.11162583	0.26927	-4.481	0.31149	T	.	.	0.109	0.32756	B	.;.;.	.;.;.	0.113837	0.05128	1.654	0.56016743423962478	0.05463	0.02756	0.07444	N	AEFBI	0.048297	0.08225	N	-1.14097014127243	0.05930	0.271651	-1.1815223663894	0.06218	0.2986347	0.0384491583654429	0.14347	0.615465	0.37627	0	0.588066	0.40923	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	4.76	-0.457	0.11578	0.098000	0.15027	0.200000	0.15841	-0.202000	0.08738	0.000000	0.06391	0.002000	0.18203	0.007000	0.07825	0.4254:0.0:0.4293:0.1454	4.677	0.12101	820	0.40914	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2092.43	138	chr14	45175794	.	G	T	2092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=476;ExcessHet=0;FS=3.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.16;ReadPosRankSum=-0.177;SOR=0.486	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	9	0	1	0
chr14	45185264	45185264	A	C	exonic	FANCM	.	nonsynonymous SNV	FANCM:NM_001308133:exon17:c.A4485C:p.E1495D,FANCM:NM_020937:exon18:c.A4563C:p.E1521D	.	49	1471	2	0	0	2	0.000679348	.	.	.	241840	FANCM-related_disorder|Fanconi_anemia|not_provided|not_specified	.|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.255	.	0.0036	0.00439297	0.0014	0.0153	0.0005	0	0	0	0	6.678e-05	0.0012225	189	154602	rs113986680	0.0004	0.0004	0.0005	0.0003	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0007	0	0	0	0.0005	2.716e-06	0.0009	4.673e-05	0.0036	0.0036	0.0036	0.0035	0.0123	0.0033	0.0032	0.0115	0.0111	0.0123	0	0.0012	0	0	0	0.0034	2.94e-05	0.0028	0.0002	0.102	0.37118	T	0.29	0.27943	T	0.792	0.44688	P	0.138	0.33406	B	0.216383	0.16242	N	0.625780	0.980936	0.25076	N	2.205	0.62170	M	-1.23	0.78860	T	-1.4	0.34596	N	0.305	0.34444	-0.9452	0.41781	T	0.101	0.37443	T	10	0.007030189	0.00160	T	.	.	.	0.255	0.56562	0.153	0.05648	0.678621362334	0.67589	0.1002294309425725	0.09953	0.17011552983	0.19178	0.310345709324	0.11959	T	0.055681	0.30076	T	-0.472658	0.00818	T	-0.44004	0.28803	T	0.0265657143338258	0.01483	T	0.655934	0.26825	T	0.06486956	0.13805	0.060166523	0.11413	0.0624157	0.13032	0.06825543	0.14230	-2.159	0.03846	T	.	.	0.118	0.24088	B	.;.;.	.;.;.	1.203153	0.15953	12.22	0.99205258423628617	0.55412	0.73895	0.36144	D	ALL	0.151863	0.27643	N	-0.654461082751842	0.17330	0.8908613	-0.64812780459406	0.18263	0.9749047	0.999150595447767	0.38592	0.615465	0.37627	0	0.593476	0.48661	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.77	0.558	0.16454	0.087000	0.14801	0.750000	0.21229	-1.799000	0.00627	0.980000	0.35271	0.964000	0.29435	0.055000	0.15596	0.6063:0.0:0.2751:0.1186	5.418	0.15681	829	0.39537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1039.43	98	chr14	45185264	.	A	C	1039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.441;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=1.13;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1117	9	0	1	0
chr14	45242249	45242249	T	C	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon4:c.A928G:p.T310A	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0063	0.00658946	0.0019	0.0205	0.0010	0	0	7.494e-05	0.0011	0	0.0017982	278	154602	rs144583290	0.0006	0.0006	0.0007	0.0005	0.0202	0.0006	0.0006	0.0189	0.0184	0.0202	0.0011	0	0	0	0.0010	7.734e-05	0.0012	1.159e-05	0.0061	0.0061	0.0064	0.0057	0.0211	0.0057	0.0056	0.0200	0.0195	0.0211	0	0.0020	0	0	0	0	0.0001	0.0024	0	0.091	0.31834	T	0.562	0.92824	T	0.888	0.48822	P	0.453	0.46205	P	0.109768	0.19470	N	0.542996	0.99999	0.08975	N	2.19	0.61577	M	2.16	0.19166	T	-1.81	0.42575	N	0.126	0.11912	-1.0799	0.07368	T	0.007	0.02558	T	10	0.0039764047	0.00077	T	.	.	.	0.048	0.13305	.	.	0.262175524916	0.25828	0.20295870400023489	0.20212	0.0456225196555	0.04953	0.292002618313	0.09214	T	0.011446	0.28845	T	-0.544659	0.00314	T	-0.538221	0.18472	T	0.0126300657976355	0.00211	T	0.533947	0.17813	T	0.09391629	0.22068	0.06633201	0.13572	0.09391629	0.22068	0.06633201	0.13571	-3.596	0.17799	T	.	.	0.077	0.06525	B	.;.	.;.	1.198737	0.15906	12.19	0.907186494125649	0.19968	0.09305	0.15088	N	AEFDGBI	0.042229	0.06526	N	-0.258716688287355	0.30756	1.717981	-0.324056078924875	0.27323	1.515366	0.99999820536718	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.97	3.73	0.41982	1.267000	0.32653	0.210000	0.15951	0.609000	0.47794	0.725000	0.28872	0.940000	0.28757	0.123000	0.19290	0.0:0.0:0.2:0.8	8.319	0.31283	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1703.43	150	chr14	45242249	.	T	C	1703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.974;DP=483;ExcessHet=0;FS=4.862;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.137;SOR=0.671	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr14	45247208	45247208	C	T	exonic	MIS18BP1	.	nonsynonymous SNV	MIS18BP1:NM_018353:exon2:c.G79A:p.D27N	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0063	0.00658946	0.0019	0.0205	0.0010	0	0	7.517e-05	0.0011	0	0.0017982	278	154602	rs144234035	0.0006	0.0006	0.0007	0.0005	0.0201	0.0006	0.0006	0.0189	0.0183	0.0201	0.0011	0	0	0	0.0010	0.0001	0.0012	1.162e-05	0.0061	0.0061	0.0064	0.0057	0.0211	0.0057	0.0056	0.0200	0.0195	0.0211	0	0.0021	0	0	0	0	0.0001	0.0024	0	0.369	0.12345	T	0.493	0.11443	T	0.01	0.15535	B	0.015	0.17295	B	0.145095	0.18157	N	0.534705	0.999901	0.19694	N	1.405	0.35469	L	2.26	0.17596	T	-0.99	0.42384	N	0.196	0.21580	-0.9812	0.34724	T	0.004	0.01435	T	10	0.0041268766	0.00081	T	.	.	.	0.019	0.03383	.	.	0.17948927462	0.17512	0.16439171013470744	0.16359	0.178628005492	0.20102	0.326647877693	0.14427	T	0.002778	0.11300	T	-0.598568	0.00149	T	-0.615658	0.11530	T	0.00710083137990544	0.00081	T	0.80292	0.44963	T	0.032299723	0.03230	0.023119323	0.00327	0.032299723	0.03230	0.023119323	0.00327	-3.554	0.17196	T	.	.	0.120	0.29697	B	.;.;.	.;.;.	1.893972	0.24054	16.25	0.9186328817594942	0.21177	0.15082	0.18735	N	AEFDGBI	0.043570	0.06903	N	-0.521648884560184	0.21380	1.134264	-0.388241780408804	0.25345	1.393339	0.99999867064547	0.74766	0.736574	0.97449	0	0.685571	0.66316	0	0.732669	0.93749	0	0.631631	0.49550	0	.	.	5.49	2.21	0.27042	1.370000	0.33843	4.087000	0.41779	0.549000	0.26987	0.844000	0.30348	1.000000	0.68203	0.708000	0.34389	0.0:0.429:0.448:0.123	7.824	0.28465	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1522.43	111	chr14	45247208	.	C	T	1522.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.494;DP=423;ExcessHet=0;FS=3.486;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=0.555;SOR=0.555	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1192	9	0	1	0
chr14	49621785	49621785	C	A	exonic	MGAT2	.	nonsynonymous SNV	MGAT2:NM_002408:exon1:c.C517A:p.L173M	Congenital disorder of glycosylation, type IIa, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	3278737	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.478	0.0663222795624	0.0002	0.000399361	5.77e-05	0.0007	0	0	0	0	0	0	5.82e-05	9	154602	rs142040736	2.736e-05	2.736e-05	2.722e-05	2.75e-05	0.0008	2.062e-05	1.816e-05	0.0006	0.0005	0.0008	2.236e-05	0	0	0	0	3.597e-06	9.934e-05	2.319e-05	0.0001	0.0001	0.0001	0.0001	0.0005	9.74e-05	8.255e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0.0005	0	0.633	0.05106	T	0.652	0.06690	T	0.41	0.35064	B	0.531	0.48577	P	0.000001	0.84330	D	0.000000	0.999949	0.51968	D	1.295	0.32453	L	-2.45	0.88847	D	0.38	0.03579	N	0.539	0.56662	-0.0422	0.81371	T	0.628	0.86939	D	10	0.2184262	0.38483	T	0.066322	0.69841	D	0.478	0.76946	.	.	0.588005003133	0.58475	0.6360869875484785	0.63542	1.1347471356	0.78747	0.682546854019	0.64634	T	0.359326	0.72575	T	-0.153058	0.27834	T	-0.088884	0.64245	T	0.122608928852365	0.14683	T	0.860114	0.55285	D	0.45884305	0.64599	0.21117651	0.45535	0.45884305	0.64599	0.21117651	0.45534	-3.68	0.19023	T	0.19863536447865965	0.26309	0.133	0.28892	B	.	.	2.902470	0.38477	20.7	0.99188502206534312	0.54906	0.97723	0.76668	D	AEFDGBCI	0.777469	0.71027	D	0.254875650269251	0.53881	3.555169	0.398565636895066	0.61476	4.348244	0.999999999999998	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.657601	0.63696	0	.	.	6.0	6.0	0.97371	4.641000	0.61072	2.727000	0.34358	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9279:0.0:0.0721	13.392	0.60272	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4613.43	34	chr14	49621785	.	C	A	4613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.488;DP=717;ExcessHet=0;FS=0.362;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-1.419;SOR=0.714	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1171	9	0	1	0
chr14	49625711	49625711	T	C	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon2:c.A2201G:p.D734G,DNAAF2:NM_001378453:exon2:c.A134G:p.D45G,DNAAF2:NM_018139:exon3:c.A2345G:p.D782G	Ciliary dyskinesia, primary, 10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00579562690922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.378	0.18184	T	0.44	0.13752	T	0.002	0.12183	B	0.003	0.12133	B	0.059542	0.22315	N	0.380669	1	0.08975	N	0.835	0.21042	L	2.34	0.16351	T	-2.54	0.57599	D	0.061	0.03283	-0.9632	0.38567	T	0.018	0.07659	T	10	0.06331396	0.08228	T	0.005796	0.15042	T	0.054	0.15330	0.229	0.15556	0.119812018005	0.11559	0.18906962422950718	0.18824	0.676155866207	0.59746	0.273026973009	0.06539	T	0.004958	0.04384	T	-0.357288	0.04285	T	-0.750996	0.03447	T	0.0664932993708574	0.08150	T	0.611839	0.23352	T	0.09235148	0.21664	0.11165599	0.26935	0.09235148	0.21664	0.11165599	0.26934	-3.61	0.20089	T	0.2383105047827012	0.32275	0.072	0.15070	B	.;.	.;.	1.622847	0.20726	14.88	0.93561860293478327	0.23399	0.15875	0.19123	N	AEFBHI	0.069555	0.13772	N	-1.01244890766623	0.08345	0.3909459	-0.960241049946245	0.10686	0.5398023	0.999653145229444	0.41424	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.76	-2.27	0.06458	0.453000	0.21523	0.475000	0.18750	0.665000	0.62972	0.328000	0.25572	0.028000	0.21151	0.959000	0.51448	0.0:0.4201:0.0:0.5799	11.195	0.47932	826	0.39940	PIH1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1812.43	146	chr14	49625711	.	T	C	1812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.858;DP=453;ExcessHet=0;FS=2.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.57;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1090	9	0	1	0
chr14	49633744	49633744	C	T	exonic	DNAAF2	.	nonsynonymous SNV	DNAAF2:NM_001083908:exon1:c.G1406A:p.C469Y,DNAAF2:NM_018139:exon1:c.G1406A:p.C469Y	Ciliary dyskinesia, primary, 10	0	1439	78	5	0	88	0.0296696	.	.	.	222368	not_specified|Primary_ciliary_dyskinesia|not_provided|Primary_ciliary_dyskinesia_10	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MONDO:MONDO:0012918,MedGen:C2675867,OMIM:612518,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.050	.	0.0048	0.0071885	0.0090	0.0012	0.0022	0	0.0111	0.0074	0.0079	0.0313	0.007225	1117	154602	rs150737854	0.0063	0.0063	0.0056	0.0070	0.0260	0.0062	0.0061	0.0251	0.0247	0.0005	0.0021	0.0098	5.063e-05	0.0077	0.0122	0.0052	0.0065	0.0260	0.0049	0.0049	0.0046	0.0053	0.0296	0.0046	0.0045	0.0257	0.0242	0.0008	0	0.0017	0.0107	0	0.0108	0.0204	0.0056	0.0061	0.0296	0.668	0.06606	T	0.086	0.41405	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	2.35	0.16217	T	-1.81	0.43149	N	0.097	0.09490	-0.9595	0.39274	T	0.008	0.02926	T	9	0.0032324195	0.00055	T	.	.	.	0.050	0.13987	.	.	0.0920862733494	0.08535	0.35599943241304355	0.35513	0.864262301777	0.69126	0.400492340326	0.25137	T	0.002222	0.01623	T	-0.708825	0.00032	T	-0.771358	0.02724	T	0.00361660849296668	0.00038	T	0.40306	0.12390	T	0.052102983	0.09669	0.13561133	0.32465	0.06224304	0.12978	0.13561133	0.32464	-5.743	0.44688	T	.	.	0.085	0.17827	B	.;.	.;.	0.204867	0.05893	2.332	0.78549104697280792	0.12349	0.02355	0.06716	N	AEFDGBHCI	0.100536	0.20212	N	-1.6742740473712	0.00937	0.04058094	-1.6234713818447	0.01518	0.06877383	0.99999999999542	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.77	0.702	0.17269	0.309000	0.19094	-0.505000	0.08779	-1.252000	0.01301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2261:0.4659:0.1879:0.1201	1.895	0.03058	835	0.38313	PIH1 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012097	0.000000	0.012228	0.005848	0.000000	0.008621	0.021472	0.034091	0.05	1165.43	37	chr14	49633744	.	C	T	1165.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.162;DP=464;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.64;SOR=0.853	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1219	9	0	1	0
chr14	49828752	49828752	C	T	exonic	NEMF	.	nonsynonymous SNV	NEMF:NM_001301732:exon14:c.G1288A:p.V430I,NEMF:NM_004713:exon14:c.G1288A:p.V430I	.	.	.	.	.	.	.	.	.	.	.	4000462	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00652732137649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.024e-07	6.844e-07	1.401e-06	0	9.215e-07	0	0	.	.	0	0	0	0	0	0	9.215e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.07449	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.838975	0.09049	N	0.919952	1	0.08975	N	0.345	0.11182	N	0.92	0.44461	T	-0.15	0.09796	N	0.106	0.09066	-1.0277	0.21200	T	0.044	0.18906	T	10	0.049535275	0.04557	T	0.006527	0.17215	T	0.059	0.16972	0.216	0.13643	0.0675242888579	0.06100	0.09252634116586625	0.09184	0.170487582951	0.19220	0.283385008574	0.07968	T	0.028284	0.20524	T	-0.321334	0.06789	T	-0.69935	0.05861	T	0.0160732790827751	0.00386	T	0.638236	0.25169	T	0.0133085195	0.00055	0.020824725	0.00157	0.0133085195	0.00055	0.020824725	0.00157	-4.185	0.26534	T	.	.	0.064	0.01622	B	.;.	.;.	1.422496	0.18392	13.71	0.71592721133148873	0.09681	0.14086	0.18215	N	AEFGBI	0.071758	0.14298	N	-0.890736333141236	0.11062	0.5318469	-0.806133964913521	0.14347	0.7491669	0.00753574642332822	0.11489	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.63	1.04	0.19220	0.323000	0.19340	1.862000	0.29329	0.545000	0.25583	0.210000	0.24424	0.999000	0.35428	0.658000	0.32913	0.1445:0.3844:0.0:0.471	4.825	0.12775	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	819.43	34	chr14	49828752	.	C	T	819.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.622;DP=435;ExcessHet=0;FS=1.911;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.286;SOR=0.459	GT:AD:DP:GQ:PL	0/1:36,39:75:99:831,0,838	9	0	1	0
chr14	50112624	50112624	C	G	exonic	VCPKMT	.	nonsynonymous SNV	VCPKMT:NM_024558:exon5:c.G666C:p.K222N	.	480	1038	4	0	0	4	0.00192308	.	.	.	2197361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.0127493638357	0.0003	0.000599042	0.0008	0	0	0	0	0.0014	0	0.0005	0.0002975	46	154602	rs200646804	0.0003	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0022	0.0017	0.0003	0.0006	0.0006	0	2.011e-05	0.0035	0.0003	0.0007	0.0006	0.0004	0.0004	0.0004	0.0004	0.0012	0.0004	0.0003	0.0008	0.0006	9.628e-05	0	0.0012	0.0006	0	0	0.0034	0.0005	0.0014	0.0004	0.018	0.50676	D	0.016	0.60972	D	0.651	0.40707	P	0.198	0.36766	B	0.000320	0.45977	U	0.132703	0.687188	0.81001	D	1.845	0.48678	L	1.84	0.24656	T	-2.0	0.46146	N	0.477	0.51226	-1.0772	0.07901	T	0.035	0.14900	T	10	0.02866596	0.00997	T	0.012749	0.31594	T	0.067	0.19503	0.468	0.54052	0.374613414588	0.37068	0.5976796688275531	0.59698	0.00750058978399	0.00664	0.644303202629	0.59176	T	0.014893	0.12595	T	-0.454093	0.01068	T	-0.523607	0.19929	T	0.0451758876442909	0.04634	T	0.762724	0.38847	T	0.3785113	0.59209	0.17212425	0.39445	0.3785113	0.59209	0.17212425	0.39444	-3.769	0.20342	T	.	.	0.815	0.78008	P	.	.	3.395855	0.47037	22.4	0.99831859792787725	0.91370	0.97822	0.77388	D	AEFBI	0.339885	0.43688	N	-0.0890925969782925	0.37870	2.209558	0.0151718083373475	0.40419	2.411825	0.999940326343778	0.47345	0.489673	0.17934	0	0.71359	0.82159	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	5.21	3.37	0.37692	2.167000	0.42042	2.179000	0.31114	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.7833:0.0:0.2167	9.687	0.39270	450	0.79359	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006559	0.010101	0.006793	0.014706	0.000000	0.000000	0.003049	0.000000	0.05	1083.43	78	chr14	50112624	.	C	G	1083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.345;DP=391;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.19;SOR=0.856	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,979	9	0	1	0
chr14	50443957	50443957	C	G	exonic	MAP4K5	.	nonsynonymous SNV	MAP4K5:NM_006575:exon19:c.G1419C:p.K473N,MAP4K5:NM_198794:exon19:c.G1419C:p.K473N	.	431	1024	62	5	0	72	0.0339623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	.	0.0066	0.00539137	0.0140	0.0015	0.0161	0	0.0099	0.0169	0.0215	0.0192	0.0083958	1298	154602	rs35768475	0.0075	0.0075	0.0070	0.0080	0.0297	0.0074	0.0073	0.0261	0.0247	0.0011	0.0074	0.0311	5.063e-05	0.0052	0.0297	0.0068	0.0092	0.0142	0.0066	0.0067	0.0067	0.0066	0.0087	0.0063	0.0062	0.0081	0.0079	0.0013	0	0.0082	0.0276	0	0.0066	0.0272	0.0087	0.0147	0.0079	0.028	0.46129	D	0.174	0.30045	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999965	0.52935	D	.	.	.	-0.82	0.74053	T	-2.33	0.51646	N	0.299	0.33796	-0.2612	0.76055	T	0.422	0.76677	T	9	0.0042360723	0.00085	T	.	.	.	0.343	0.66488	0.419	0.46036	0.557661990297	0.55426	0.43804407463647294	0.43721	0.86124622319	0.68974	0.740895748138	0.73105	T	.	.	.	-0.425966	0.01569	T	-0.372971	0.36541	T	0.018003772233958	0.00525	T	0.891611	0.62654	D	0.33619976	0.55975	0.21171997	0.45611	0.33619976	0.55975	0.21171997	0.45610	-8.058	0.61465	D	.	.	0.605	0.69086	P	.	.	3.334347	0.45915	22.2	0.99806612893956281	0.89085	0.84800	0.43890	D	AEFBI	0.157098	0.28255	N	0.0455395370400721	0.43936	2.677043	0.0421915496554164	0.41695	2.509357	0.42880509924559	0.20353	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	2.67	0.30756	0.509000	0.22414	-0.199000	0.10963	0.599000	0.40250	1.000000	0.71638	0.245000	0.23879	1.000000	0.97212	0.0:0.6265:0.0:0.3735	8.648	0.33178	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024169	0.010101	0.023098	0.029240	0.000000	0.051724	0.033537	0.018939	0.05	678.43	33	chr14	50443957	.	C	G	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.453;DP=396;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.709;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1113	9	0	1	0
chr14	51249735	51249735	C	T	exonic	TMX1	.	nonsynonymous SNV	TMX1:NM_030755:exon7:c.C634T:p.R212C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00962607602489	8.5e-05	0.000399361	0.0006	0	0	0	0.0092	0.0001	0.0044	0.0002	0.0005239	81	154602	rs202022158	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0003	0.0005	0.0003	0.0002	0	0.0006	2.521e-05	0.0070	0.0010	5.668e-05	0.0004	0.0002	0.0007	0.0007	0.0004	0.0011	0.0002	0.0006	0.0006	0.0002	0.0001	2.407e-05	0	0	0.0009	0	0.0086	0	0.0002	0	0.0002	0.063	0.36709	T	0.036	0.52060	D	0.965	0.56013	D	0.517	0.48105	P	0.006703	0.31850	N	0.382752	0.999369	0.46798	D	1.905	0.50856	L	0.31	0.58613	T	-1.76	0.41618	N	0.343	0.38438	-0.7955	0.55409	T	0.228	0.59359	T	10	0.004696518	0.00099	T	0.009626	0.25176	T	0.128	0.35103	.	.	0.759747110694	0.75756	0.31696189607093933	0.31609	0.107717183507	0.12152	0.336024284363	0.15843	T	0.054572	0.29763	T	-0.311509	0.07616	T	-0.276585	0.47154	T	0.0543678445186032	0.06252	T	0.827517	0.49142	T	0.12921189	0.30187	0.06100533	0.11710	0.12921189	0.30186	0.06100533	0.11709	-6.848	0.52915	T	.	.	0.120	0.24800	B	.	.	3.987715	0.58662	24.0	0.99892130016739178	0.96589	0.78554	0.38773	D	AEFBI	0.174111	0.30123	N	0.452441450458636	0.64341	4.686467	0.497475505534637	0.67822	5.135798	0.999986808096646	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.63	4.7	0.58776	2.757000	0.47236	2.273000	0.31844	0.599000	0.40250	0.996000	0.39380	0.999000	0.35428	0.993000	0.69303	0.2562:0.7438:0.0:0.0	13.368	0.60142	567	0.70732	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.05	561.43	50	chr14	51249735	.	C	T	561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.66;DP=257;ExcessHet=0;FS=7.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=-1.941;SOR=1.88	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:57:.:.:0,57,547:.	9	0	1	0
chr14	52038828	52038828	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon9:c.G2176A:p.V726M	.	425	1095	2	0	0	2	0.000912409	.	.	.	2810421	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0042	0.000998403	0.0043	0.0009	0.0004	0	0.0133	0.0060	0.0077	0.0005	0.0042755	661	154602	rs35147930	0.0051	0.0051	0.0051	0.0051	0.0057	0.0050	0.0049	0.0056	0.0055	0.0006	0.0005	0.0020	0	0.0132	0.0009	0.0057	0.0038	0.0008	0.0042	0.0042	0.0040	0.0045	0.0065	0.0040	0.0039	0.0060	0.0058	0.0008	0.0022	0.0008	0.0032	0.0002	0.0128	0.0034	0.0065	0.0033	0.0004	0.117	0.28271	T	0.173	0.31326	T	1.0	0.90584	D	0.913	0.64886	D	0.000000	0.84330	D	0.050316	0.975929	0.39231	D	2.045	0.56016	M	1.58	0.29085	T	-1.94	0.45042	N	0.271	0.38848	-0.7799	0.56308	T	0.144	0.46750	T	10	0.007125318	0.00162	T	.	.	.	0.172	0.43662	.	.	0.618703310563	0.61561	0.3708556932472328	0.36999	0.451365656779	0.44884	0.610292315483	0.54357	T	0.208649	0.56864	T	-0.302387	0.08436	T	-0.196747	0.54955	T	0.0161752719416806	0.00392	T	0.907309	0.67223	D	0.10030298	0.23683	0.11063015	0.26677	0.10030298	0.23683	0.11063015	0.26676	-8.821	0.66538	D	.	.	0.321	0.54573	B	.;.	.;.	3.208029	0.43659	21.8	0.99815902589045236	0.89885	0.90301	0.51368	D	AEFBI	0.228973	0.35257	N	0.44057203458871	0.63670	4.605323	0.388323099863335	0.60845	4.276747	0.999969143106219	0.48965	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.29	0.74430	2.768000	0.47329	4.867000	0.45528	0.594000	0.32500	0.987000	0.36337	0.986000	0.30841	0.531000	0.29730	0.0:0.9331:0.0:0.0669	15.444	0.74935	899	0.25060	G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	740.43	43	chr14	52038828	.	C	T	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.923;DP=432;ExcessHet=0;FS=3.877;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=0.246;SOR=1.091	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1070	9	0	1	0
chr14	52042883	52042883	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon6:c.G1478A:p.R493K	.	424	1077	20	1	0	22	0.0101103	.	.	.	702896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0304468616573	0.0063	0.00259585	0.0055	0.0011	0.0013	0	0.0024	0.0086	0.0033	0.0030	0.0057761	893	154602	rs111989036	0.0076	0.0076	0.0077	0.0076	0.0088	0.0075	0.0074	0.0086	0.0086	0.0010	0.0017	0.0135	0	0.0031	0.0073	0.0088	0.0068	0.0032	0.0049	0.0049	0.0053	0.0045	0.0083	0.0046	0.0045	0.0078	0.0076	0.0012	0	0.0014	0.0130	0	0.0041	0.0034	0.0083	0.0038	0.0029	0.713	0.04008	T	0.41	0.14544	T	0.036	0.20732	B	0.028	0.21332	B	0.398379	0.13159	N	0.766255	1	0.08975	N	0.665	0.16292	N	-2.2	0.86888	D	-0.55	0.16799	N	0.156	0.16168	-0.7743	0.56620	T	0.294	0.66517	T	10	0.005351484	0.00117	T	0.030447	0.52756	D	0.109	0.30843	.	.	0.543561272632	0.54008	0.16438596761333624	0.16358	0.0968026728174	0.10928	0.219821214676	0.01300	T	0.067525	0.33224	T	-0.384962	0.02898	T	-0.319209	0.42661	T	0.000374597644603621	0.00003	T	0.364964	0.08484	T	0.08498389	0.19694	0.062388107	0.12198	0.08498389	0.19694	0.062388107	0.12198	-5.213	0.39074	T	.	.	0.093	0.14015	B	.	.	1.516089	0.19470	14.28	0.4565946494951153	0.03600	0.01789	0.05595	N	AEFDGBIJ	0.097982	0.19752	N	-0.876788700375661	0.11397	0.5497405	-0.858368721566801	0.13086	0.6769452	0.999961118433219	0.48965	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.77	1.77	0.23848	1.354000	0.33660	1.330000	0.25662	0.594000	0.32500	0.001000	0.13787	0.001000	0.17328	0.719000	0.34739	0.1283:0.6585:0.0:0.2132	6.318	0.20409	914	0.21048	EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004032	0.000000	0.002717	0.000000	0.000000	0.000000	0.006135	0.015152	0.05	585.43	36	chr14	52042883	.	C	T	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.34;DP=406;ExcessHet=0;FS=0.911;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=0.4;SOR=0.69	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr14	52432318	52432318	A	C	exonic	TXNDC16	.	nonsynonymous SNV	TXNDC16:NM_001160047:exon21:c.T2449G:p.S817A,TXNDC16:NM_020784:exon21:c.T2464G:p.S822A	.	601	908	9	4	0	17	0.00927441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0002	0.00399361	0.0025	9.694e-05	0.0002	0	0	0.0002	0	0.0188	0.0021216	328	154602	rs144886303	0.0012	0.0012	0.0007	0.0017	0.0162	0.0012	0.0011	0.0155	0.0152	0.0001	0.0002	0.0015	0	0	0.0019	0.0002	0.0012	0.0162	0.0007	0.0007	0.0004	0.0010	0.0176	0.0006	0.0005	0.0146	0.0135	2.405e-05	0	0	0.0017	0.0002	0	0.0034	0.0001	0.0005	0.0176	0.0	0.91255	D	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.009551	0.01245	N	2.963580	1	0.08975	N	1.1	0.28011	L	2.27	0.17431	T	0.43	0.03297	N	0.085	0.06190	-0.9910	0.32347	T	0.023	0.09604	T	10	0.0028789937	0.00046	T	.	.	.	0.054	0.15330	.	.	0.236890367714	0.23314	0.02832776152688603	0.02782	0.0191806811106	0.01871	0.323685586452	0.13979	T	6.69E-4	0.00291	T	-0.561185	0.00250	T	-0.565906	0.15826	T	0.0353943228985161	0.02875	T	0.112489	0.00851	T	0.1431432	0.32911	0.113746524	0.27454	0.1431432	0.32910	0.113746524	0.27454	-4.315	0.28387	T	.	.	0.072	0.04277	B	.	.	0.164659	0.05545	2.006	0.64902230717678866	0.07622	0.07353	0.13374	N	AEFI	0.049833	0.08648	N	-1.00522374241208	0.08495	0.3985125	-1.00942195171716	0.09577	0.4772778	0.101633738089486	0.16386	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.07	-0.147	0.12771	0.277000	0.18496	1.455000	0.26636	0.750000	0.87069	0.020000	0.19661	0.084000	0.22431	0.051000	0.15275	0.4118:0.3341:0.0928:0.1613	1.840	0.02957	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.018939	0.05	848.43	74	chr14	52432318	.	A	C	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=381;ExcessHet=0;FS=3.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.014;SOR=1.187	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr14	55044322	55044325	AGTT	-	exonic	SOCS4	.	frameshift deletion	SOCS4:NM_080867:exon2:c.1281_1284del:p.V428Efs*21,SOCS4:NM_199421:exon3:c.1281_1284del:p.V428Efs*21	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.116e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs749490375	4.859e-05	4.857e-05	1.771e-05	7.98e-05	0.0008	3.928e-05	3.606e-05	0.0006	0.0006	0	0	0	0	0	0.0004	8.996e-07	3.313e-05	0.0008	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	486.39	34	chr14	55044321	.	AAGTT	A	486.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.115;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=-1.009;SOR=0.481	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1025	9	0	1	0
chr14	55380613	55380613	G	A	exonic	ATG14	.	nonsynonymous SNV	ATG14:NM_014924:exon7:c.C955T:p.H319Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0162295172718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.04302	T	0.966	0.02509	T	0.84	0.46486	P	0.708	0.54437	P	0.000000	0.84330	D	0.048295	1	0.81001	D	1.505	0.38159	L	1.36	0.34452	T	-0.06	0.07882	N	0.57	0.59308	-1.1042	0.03620	T	0.090	0.34463	T	10	0.45267877	0.58797	T	0.01623	0.37384	T	0.193	0.47281	0.637	0.77361	0.292062946507	0.28806	0.6162994018991854	0.61561	0.443210753979	0.44258	0.643291115761	0.59033	T	0.011117	0.09959	T	-0.0371104	0.46376	T	-0.291083	0.45659	T	0.919443368911743	0.57816	D	0.938606	0.76932	D	0.16538963	0.36808	0.17175211	0.39381	0.16538963	0.36808	0.17175211	0.39380	-1.021	0.01023	T	.	.	0.1	0.17146	B	.	.	4.176281	0.62829	24.5	0.99299212364967704	0.58577	0.99636	0.98212	D	AEFDBI	0.860766	0.77869	D	0.340827389864358	0.58257	3.996926	0.435366078193277	0.63781	4.619044	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	9.667000	0.97886	11.776000	0.95984	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	19.109	0.93293	441	0.80015	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2035.43	34	chr14	55380613	.	G	A	2035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.985;DP=494;ExcessHet=0;FS=1.158;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.23;SOR=0.604	GT:AD:DP:GQ:PL	0/1:85,93:178:99:2047,0,1758	9	0	1	0
chr14	55436643	55436643	C	T	exonic	TBPL2	.	nonsynonymous SNV	TBPL2:NM_199047:exon2:c.G526A:p.D176N	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0168712132429	0.0003	0.00239617	0.0004	0.0025	0.0004	0.0001	0	0.0003	0	0	0.0004916	76	154602	rs147598963	0.0003	0.0003	0.0003	0.0003	0.0035	0.0003	0.0002	0.0023	0.0022	0.0028	0.0008	0	2.519e-05	5.616e-05	0.0035	0.0002	0.0009	3.478e-05	0.0009	0.0009	0.0009	0.0009	0.0020	0.0008	0.0007	0.0017	0.0015	0.0020	0	0.0014	0	0	0	0.0103	0.0003	0.0028	0.0002	0.689	0.04315	T	0.898	0.03065	T	0.0	0.02946	B	0.001	0.04355	B	0.054474	0.02061	N	1.920980	1	0.08975	N	0.145	0.08828	N	1.0	0.41392	T	0.36	0.03700	N	0.18	0.19459	-1.0516	0.13954	T	0.023	0.09878	T	10	0.0039066374	0.00074	T	0.016871	0.38326	T	0.007	0.00512	.	.	0.134241683229	0.13084	0.3273595641610811	0.32648	0.103303794064	0.11683	0.263094425201	0.05264	T	0.024465	0.18482	T	-0.728651	0.00024	T	-0.823737	0.01379	T	0.0040212613265003	0.00043	T	0.405859	0.10416	T	0.02536712	0.01468	0.03840833	0.03703	0.02536712	0.01468	0.03840833	0.03703	-3.379	0.14775	T	.	.	0.067	0.02578	B	.	.	0.435676	0.08059	4.783	0.4439951246608132	0.03411	0.06928	0.12953	N	AEFDGBI	0.173425	0.30050	N	-1.7080849070817	0.00813	0.03516949	-1.71494615349698	0.01073	0.0481672	0.999036012059273	0.38264	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.34	-4.41	0.03339	-2.049000	0.01493	-0.845000	0.07201	-0.254000	0.07082	0.000000	0.06391	0.000000	0.08366	0.081000	0.17303	0.2453:0.4235:0.1152:0.216	1.321	0.01989	414	0.81871	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.030303	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1576.43	34	chr14	55436643	.	C	T	1576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=433;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.3;SOR=0.833	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1051	9	0	1	0
chr14	58131719	58131719	G	C	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon4:c.C1624G:p.Q542E,ARMH4:NM_001320173:exon4:c.C1624G:p.Q542E	.	436	1073	13	0	0	13	0.00602131	.	.	.	2810441	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0062	0.00339457	0.0078	0.0021	0.0021	0	0.0417	0.0087	0.0187	0.0017	0.0077231	1194	154602	rs45570237	0.0084	0.0084	0.0086	0.0082	0.0212	0.0083	0.0082	0.0178	0.0166	0.0016	0.0025	0.0018	0	0.0406	0.0212	0.0083	0.0071	0.0019	0.0078	0.0078	0.0065	0.0092	0.0081	0.0075	0.0073	0.0075	0.0073	0.0016	0.0176	0.0049	0.0006	0	0.0435	0.0238	0.0081	0.0033	0.0012	0.352	0.12226	T	0.98	0.02423	T	0.015	0.17086	B	0.015	0.17295	B	0.575649	0.05505	N	1.303710	1	0.08975	N	.	.	.	2.28	0.17271	T	-0.33	0.12472	N	0.3	0.33904	-0.9805	0.34886	T	0.016	0.06521	T	10	0.0017748177	0.00023	T	.	.	.	0.032	0.07718	.	.	0.0297737177859	0.01360	0.09089282105782862	0.09022	0.0439273246265	0.04729	.	.	.	0.001223	0.00717	T	-0.653005	0.00069	T	-0.697147	0.05983	T	0.00238747770973534	0.00025	T	0.541546	0.18382	T	0.0404208	0.05764	0.054478306	0.09376	0.0404208	0.05764	0.054478306	0.09375	-2.099	0.03580	T	.	.	0.063	0.01512	B	.	.	0.310951	0.06862	3.392	0.87301622403300372	0.17130	0.13007	0.17609	N	ALL	0.118449	0.23162	N	-1.18373984612655	0.05245	0.2386762	-1.21246586129291	0.05709	0.2727758	0.999998542637973	0.74766	0.758104	0.99027	0	0.59043	0.45803	0	0.691618	0.62860	0	0.620846	0.47308	0	.	.	5.15	-2.36	0.06282	-0.396000	0.07338	-0.127000	0.11659	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.611000	0.31665	0.333:0.4132:0.2537:0.0	5.461	0.15913	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.018839	0.010417	0.019022	0.038462	0.055556	0.017241	0.009317	0.003817	0.05	1331.43	33	chr14	58131719	.	G	C	1331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.306;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=0.402;SOR=0.683	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr14	58133226	58133226	C	A	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon3:c.G1485T:p.E495D,ARMH4:NM_001320173:exon3:c.G1485T:p.E495D	.	426	1073	21	2	0	25	0.0115154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.010809206987	0.0002	0.000798722	0.0009	0	0.0011	0	0	0.0010	0.0033	0.0020	0.0008861	137	154602	rs147981947	0.0007	0.0007	0.0006	0.0008	0.0059	0.0007	0.0006	0.0043	0.0038	0.0001	0.0009	0.0009	0	3.744e-05	0.0059	0.0006	0.0007	0.0023	0.0006	0.0006	0.0006	0.0007	0.0027	0.0005	0.0005	0.0016	0.0013	7.225e-05	0.0011	0.0009	0.0009	0	0	0	0.0008	0.0038	0.0027	0.035	0.43708	D	0.101	0.38596	T	0.971	0.57185	D	0.721	0.54900	P	0.012483	0.29156	N	0.294052	0.847836	0.35172	D	.	.	.	1.86	0.24285	T	-2.46	0.53736	N	0.191	0.20925	-0.9336	0.43605	T	0.105	0.38390	T	10	0.009754986	0.00219	T	0.010809	0.27768	T	0.054	0.15330	0.155	0.05858	0.0551355673512	0.04727	0.044565284659814	0.04400	0.0780390423039	0.08785	.	.	.	0.038967	0.25026	T	-0.538043	0.00344	T	-0.552422	0.17093	T	0.0445649304134644	0.04522	T	0.454355	0.12956	T	0.117513396	0.27703	0.108159326	0.26050	0.117513396	0.27703	0.108159326	0.26049	-4.701	0.33416	T	.	.	0.121	0.25133	B	.	.	2.207759	0.28159	17.71	0.99629274163288084	0.75959	0.68157	0.33696	D	AEFGBI	0.202729	0.32929	N	0.163183261700615	0.49437	3.144204	0.0975631311440947	0.44426	2.724604	0.999977659090372	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.59	4.7	0.58776	1.982000	0.40260	0.212000	0.15973	0.599000	0.40250	0.718000	0.28801	0.000000	0.08366	0.017000	0.10941	0.0:0.9025:0.0:0.0975	9.598	0.38752	868	0.31772	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1608.43	39	chr14	58133226	.	C	A	1608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.316;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.53;SOR=0.735	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,108,1620	9	0	1	0
chr14	58138194	58138194	A	G	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon2:c.T1165C:p.S389P,ARMH4:NM_001320173:exon2:c.T1165C:p.S389P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.00991569293664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.003	0.76473	D	0.989	0.62824	D	0.885	0.62825	P	0.214351	0.16289	N	0.566984	1	0.08975	N	.	.	.	1.68	0.27184	T	-2.49	0.54217	N	0.17	0.18103	-1.0535	0.13440	T	0.102	0.37568	T	10	0.1590898	0.29900	T	0.009916	0.25833	T	0.182	0.45420	0.374	0.38667	0.0666544352282	0.05500	0.13696643335137432	0.13620	0.121842658127	0.13733	.	.	.	0.025561	0.19086	T	-0.0273703	0.47799	T	-0.277092	0.47102	T	0.522264003753662	0.33449	D	0.49655	0.15423	T	0.24250986	0.47179	0.2958181	0.55614	0.24250986	0.47179	0.2958181	0.55613	-4.12	0.25584	T	.	.	0.088	0.11749	B	.	.	1.334307	0.17401	13.14	0.99607788779664785	0.74634	0.04756	0.10462	N	AEFGBCI	0.103078	0.20660	N	-0.222407257448638	0.32215	1.814444	-0.420636230168889	0.24392	1.335448	0.999940150298763	0.47345	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.86	2.08	0.26079	0.156000	0.16200	1.252000	0.25176	0.751000	0.87719	0.001000	0.13787	0.087000	0.22477	0.167000	0.20881	0.4904:0.4346:0.075:0.0	7.430	0.26296	875	0.30485	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	180.06	124	chr14	58138194	.	A	G	180.06	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.802;DP=1225;ExcessHet=0;FS=108.369;InbreedingCoeff=-0.0821;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.534;SOR=9.75	GT:AD:DP:GQ:PL	0/0:137,25:162:19:0,19,2847	8	0	1	1
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:43,19:62:99:118,0,706	3	0	7	0
chr14	58474776	58474776	T	A	exonic	KIAA0586	.	nonsynonymous SNV	KIAA0586:NM_001244193:exon16:c.T2384A:p.L795Q,KIAA0586:NM_014749:exon18:c.T2576A:p.L859Q,KIAA0586:NM_001244191:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001329943:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001329944:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001329945:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001329946:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001329947:exon19:c.T2804A:p.L935Q,KIAA0586:NM_001364700:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001364701:exon19:c.T2549A:p.L850Q,KIAA0586:NM_001244190:exon20:c.T2759A:p.L920Q,KIAA0586:NM_001244192:exon20:c.T2672A:p.L891Q,KIAA0586:NM_001244189:exon21:c.T2963A:p.L988Q	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	437	1079	5	1	0	7	0.00323326	.	.	YES	464326	Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.267	0.0957546606602	.	0.000199681	0.0001	0	0.0003	0	0	3.038e-05	0	0.0006	0.00011	17	154602	rs537951340	5.921e-05	5.951e-05	4.521e-05	7.337e-05	0.0014	4.908e-05	4.525e-05	0.0007	0.0005	0	0.0002	0	0	0	0.0014	3.608e-06	0.0001	0.0007	3.282e-05	3.281e-05	2.569e-05	4.028e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	0	0	6.535e-05	0	0.0002	0	0	1.47e-05	0	0.0004	0.001	0.78490	D	0.006	0.76473	D	1.0	0.90584	D	0.958	0.70027	D	0.019676	0.27206	N	0.244133	0.764015	0.34072	D	2.615	0.76484	M	0.6	0.53731	T	-5.21	0.85765	D	0.776	0.77319	-0.0579	0.81038	T	0.345	0.71020	T	10	0.49389455	0.61153	T	0.095755	0.76484	D	0.267	0.58126	0.457	0.52265	0.786933238966	0.78496	0.504494989588134	0.50371	0.160885964806	0.18162	0.44115126133	0.30734	T	0.197964	0.87055	T	-0.0136099	0.49758	T	0.101255	0.76991	D	0.550540626049042	0.34497	D	0.886911	0.61435	D	0.7585486	0.81368	0.8165605	0.89319	0.7585486	0.81369	0.8165605	0.89320	-12.587	0.87813	D	0.7795839336280106	0.85964	0.206	0.50979	B	.;.;.;.;.;.	.;.;.;.;.;.	4.614646	0.73217	26.0	0.99565483593220494	0.72075	0.94497	0.61356	D	AEFBI	0.501436	0.53428	D	0.652569536981193	0.76536	6.504511	0.620418170669781	0.76425	6.48849	0.999988385061285	0.51787	0.706298	0.61202	0	0.708844	0.79440	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.256000	0.58601	7.799000	0.69096	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	15.006	0.71174	778	0.48011	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1374.43	83	chr14	58474776	.	T	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.42;DP=383;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.56;ReadPosRankSum=1.02;SOR=0.855	GT:AD:DP:GQ:PL	0/0:32,0:32:78:0,78,1170	9	0	1	0
chr14	58645664	58645664	G	C	exonic	DACT1	.	nonsynonymous SNV	DACT1:NM_001079520:exon4:c.G930C:p.Q310H,DACT1:NM_016651:exon4:c.G1041C:p.Q347H	.	8	1513	1	0	0	1	0.00033036	.	.	.	714172	Townes-Brocks_syndrome_2|not_provided	MONDO:MONDO:0054582,MedGen:C4479534,OMIM:617466|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.317	0.0267939509783	0.0028	0.00199681	0.0007	0.0075	0.0004	0	0	0	0	6.061e-05	0.000608	94	154602	rs139223977	0.0002	0.0002	0.0003	0.0002	0.0078	0.0002	0.0002	0.0070	0.0067	0.0078	0.0004	0	0	0	0.0003	3.597e-06	0.0004	3.478e-05	0.0020	0.0020	0.0020	0.0019	0.0069	0.0018	0.0017	0.0062	0.0059	0.0069	0	0.0005	0	0	0	0	1.471e-05	0.0033	0	0.027	0.46513	D	0.041	0.92824	D	0.395	0.34724	B	0.347	0.42698	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.14	0.59869	M	0.42	0.56937	T	-3.64	0.80767	D	0.538	0.65673	-0.7592	0.57449	T	0.163	0.49963	T	10	0.009681553	0.00218	T	0.026794	0.49675	D	0.317	0.63904	0.227	0.15257	0.616787221087	0.61368	0.631894175769573	0.63123	0.189800492644	0.21301	0.690798044205	0.65821	T	0.054739	0.53036	T	-0.0549057	0.43699	T	0.153905	0.80429	D	0.0648756911808992	0.07912	T	0.719828	0.33277	T	0.44347322	0.63625	0.37201685	0.62419	0.44347322	0.63626	0.37201685	0.62419	-2.906	0.09203	T	.	.	0.746	0.74879	P	.;.;.;.;.	.;.;.;.;.	3.332636	0.45886	22.2	0.99692636657555489	0.80044	0.98706	0.85820	D	AEFDGBI	0.834473	0.75252	D	0.35694248218423	0.59106	4.087478	0.466588767220589	0.65788	4.868404	0.999999999999999	0.74766	0.700653	0.57754	0	0.546412	0.12157	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.46	5.46	0.80021	6.167000	0.71757	7.546000	0.60178	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.292	0.94089	474	0.77851	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003525	0.005051	0.004076	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	1979.43	35	chr14	58645664	.	G	C	1979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=469;ExcessHet=0;FS=6.16;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=-0.689;SOR=1.052	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1219	9	0	1	0
chr14	59521609	59521609	G	C	exonic	CCDC175	.	stopgain	CCDC175:NM_001164399:exon17:c.C2063G:p.S688X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713156	0.06269	N	1.174230	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338445	0.85730	D	0.248377	0.85542	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	6.550978	0.95390	35	0.95735350039966061	0.27682	0.04672	0.10351	N	AEFBI	0.043714	0.06945	N	0.0116059101182662	0.42383	2.552587	-0.386857324372951	0.25388	1.395867	0.127470692962769	0.17020	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.46	-0.691	0.10737	-0.050000	0.11859	1.774000	0.28659	0.676000	0.76740	0.000000	0.06391	0.096000	0.22607	0.012000	0.09680	0.3783:0.0:0.4495:0.1722	3.570	0.07465	781	0.47532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	500.43	36	chr14	59521609	.	G	C	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.023;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.178;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1485:.	9	0	1	0
chr14	59540673	59540673	A	C	splicing	CCDC175	NM_001164399:exon11:c.1355+2T>G	.	.	.	.	.	.	.	.	.	.	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	6.5e-06	1	154602	rs776061115	1.339e-06	6.851e-06	2.704e-06	0	1.742e-06	0	0	.	.	0	0	0	0	0	0	1.742e-06	0	0	6.698e-05	0.0002	6.506e-05	6.901e-05	0.0002	1.109e-05	4.15e-06	2.983e-05	1.239e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305508	0.83401	D	0.201064	0.83185	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.251281	0.88165	29.5	0.99034892920652151	0.50895	0.88639	0.48662	D	AEFGBI	.	.	.	0.994981897801068	0.95588	13.76517	0.832108810297779	0.91929	11.14352	0.998822965898206	0.37755	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.058706	0.01089	0	0.956188	0.63694	5.05	5.05	0.67566	3.836000	0.55516	10.854000	0.83952	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	11.374	0.48956	777	0.48198	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	100.82	52	chr14	59540673	.	A	C	100.82	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.162;DP=306;ExcessHet=0;FS=1.352;InbreedingCoeff=-0.1993;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.29;ReadPosRankSum=1.68;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:49:.:.:0,49,598:.	5	0	1	4
chr14	59607342	59607342	C	T	exonic	RTN1	.	nonsynonymous SNV	RTN1:NM_001363702:exon2:c.G167A:p.R56H,RTN1:NM_206852:exon2:c.G212A:p.R71H,RTN1:NM_021136:exon4:c.G1916A:p.R639H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.0385668975748	.	.	1.665e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs749408245	6.157e-06	6.156e-06	8.167e-06	4.125e-06	0.0001	2.9e-06	2.1e-06	3.982e-05	2.373e-05	0.0001	0	0	2.519e-05	0	0	8.993e-07	3.311e-05	1.159e-05	3.945e-05	3.941e-05	1.285e-05	6.731e-05	0.0001	1.716e-05	1.13e-05	4.739e-05	3.054e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	0.81	0.48460	T	-4.87	0.81269	D	0.865	0.98368	0.037	0.82990	D	0.446	0.78221	T	10	0.8790791	0.87211	D	0.038567	0.58299	D	0.707	0.89514	0.763	0.89133	0.481781477641	0.47810	0.7742163847602792	0.77371	1.94283100261	0.93250	0.893649935722	0.95707	D	0.35488	0.72197	T	0.150727	0.69337	D	0.215401	0.83941	D	0.999335587024689	0.97004	D	0.997706	0.99060	D	0.7168484	0.78987	0.689439	0.81729	0.7168484	0.78988	0.689439	0.81730	-11.752	0.86726	D	.	.	0.748	0.85290	P	.;.;.;.	.;.;.;.	6.112583	0.94590	34	0.99961413814645728	0.99998	0.98576	0.84281	D	AEFGBI	0.958471	0.97828	D	1.04880302788611	0.97061	15.53185	0.994003373655171	0.98509	18.47959	0.99999999996805	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.99	5.99	0.97299	7.905000	0.86479	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.478	0.99191	703	0.57489	Reticulon|Reticulon;.;Reticulon|Reticulon;Reticulon|Reticulon	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	836.43	35	chr14	59607342	.	C	T	836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=391;ExcessHet=0;FS=7.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.742;SOR=1.117	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	9	0	1	0
chr14	60057944	60057944	G	A	exonic	LRRC9	.	nonsynonymous SNV	LRRC9:NM_001355272:exon31:c.G4198A:p.E1400K	.	436	1074	12	0	0	12	0.00555556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014377	0.0110	0	0	0.0455	0	0.0003	0.0227	0.0160	0.0017529	271	154602	rs77893491	0.0085	0.0074	0.0085	0.0085	0.0976	0.0083	0.0082	0.0948	0.0936	0.0008	0.0083	0.0004	0.0976	0.0037	0.0005	0.0004	0.0037	0.0129	0.0034	0.0034	0.0027	0.0041	0.0575	0.0031	0.0030	0.0521	0.0500	0.0006	0	0.0036	0	0.0575	0.0034	0	0.0005	0.0024	0.0129	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.997905	0.22451	N	.	.	.	2.45	0.15028	T	1.35	0.00889	N	0.14	0.13911	.	.	.	.	.	.	.	0.0020187497	0.00028	T	.	.	.	.	.	.	.	0.289098819767	0.28531	0.1826041786331218	0.18179	.	.	.	.	.	2.1E-4	0.00041	T	-0.633308	0.00091	T	-0.564348	0.15971	T	.	.	.	0.421058	0.11199	T	0.056483187	0.11119	0.12870216	0.30958	0.056483187	0.11118	0.12870216	0.30958	-3.305	0.13802	T	.	.	0.053	0.00949	B	.;.	.;.	1.793790	0.22800	15.77	0.55479994864291016	0.05351	0.01736	0.05483	N	AEFBI	0.035855	0.04683	N	.	.	.	.	.	.	0.696558387084972	0.22648	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.54	5.54	0.82907	2.351000	0.43727	8.050000	0.76353	-0.040000	0.17491	0.994000	0.38300	1.000000	0.68203	0.939000	0.47918	0.9133:0.0:0.0867:0.0	8.661	0.33255	558	0.71484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1857.43	33	chr14	60057944	.	G	A	1857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=499;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.424;SOR=0.695	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1354	9	0	1	0
chr14	60115188	60115188	A	G	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon3:c.A382G:p.I128V,PCNX4:NM_001330177:exon4:c.A1084G:p.I362V	.	435	1076	11	0	0	11	0.00508553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0013	0.014377	0.0085	0.0011	0.0100	0.0558	0.0062	0.0019	0.0122	0.0143	0.0076066	1176	154602	rs75475362	0.0051	0.0051	0.0049	0.0053	0.0901	0.0050	0.0050	0.0877	0.0866	0.0007	0.0093	0.0007	0.0901	0.0059	0.0009	0.0016	0.0042	0.0132	0.0041	0.0042	0.0035	0.0048	0.0558	0.0039	0.0037	0.0505	0.0485	0.0008	0	0.0040	0	0.0558	0.0049	0	0.0018	0.0028	0.0128	0.93	0.02274	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.04355	B	.	.	.	.	1	0.08975	N	-0.56	0.02328	N	2.06	0.20664	T	0.15	0.05604	N	0.014	0.00203	-0.9199	0.45567	T	0.001	0.00438	T	9	0.0015312731	0.00017	T	.	.	.	0.029	0.06676	.	.	0.0297737177859	0.01360	0.2653109046514781	0.26444	0.0120746900002	0.01145	0.283814579248	0.08030	T	0.002794	0.07514	T	-0.812043	0.00006	T	-0.821089	0.01430	T	0.000685660318959884	0.00006	T	0.574643	0.20620	T	0.01962794	0.00498	0.037314124	0.03358	0.01962794	0.00497	0.037314124	0.03358	-3.18	0.12238	T	.	.	0.068	0.04041	B	.;.;.	.;.;.	-1.180463	0.00551	0.013	0.66006540860983143	0.07934	0.04078	0.09534	N	AEDGBIJ	0.055351	0.10143	N	-1.32158699794247	0.03429	0.1531529	-1.26532783300188	0.04908	0.2326312	0.998885172680653	0.37891	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	5.4	-4.23	0.03530	-0.015000	0.12572	-1.110000	0.06300	-0.054000	0.16847	0.006000	0.17386	0.000000	0.08366	0.942000	0.48361	0.3808:0.0:0.5165:0.1028	9.060	0.35589	602	0.67834	.;.;.	.	.	.	.	rs75475362	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2095.43	127	chr14	60115188	.	A	G	2095.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.492;DP=1257;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.517;SOR=0.71	GT:AD:DP:GQ:PL	0/0:127,0:127:99:0,120,1800	9	0	1	0
chr14	60723844	60723844	-	GCC	exonic	SIX4	.	nonframeshift insertion	SIX4:NM_017420:exon1:c.230_231insGGC:p.A77_G78insA	.	398	1122	1	1	0	3	0.00133511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	.	0.0032	0.0482	0	0	0	0.0007	0	0	0.0003074	8	26028	rs774188500	0.0008	0.0008	0.0008	0.0007	0.0231	0.0007	0.0007	0.0217	0.0211	0.0231	0.0012	4.283e-05	5.49e-05	2.814e-05	0.0028	0.0002	0.0017	5.164e-05	0.0070	0.0070	0.0075	0.0065	0.0236	0.0066	0.0065	0.0224	0.0219	0.0236	0	0.0027	0	0	0	0.0103	0.0003	0.0066	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	284.39	34	chr14	60723844	.	G	GGCC	284.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=417;ExcessHet=0;FS=7.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-1.852;SOR=2.584	GT:AD:DP:GQ:PL	0/0:44,0:44:96:0,96,1252	9	0	1	0
chr14	61738101	61738101	G	T	exonic	HIF1A	.	nonsynonymous SNV	HIF1A:NM_001243084:exon10:c.G1336T:p.D446Y,HIF1A:NM_001530:exon10:c.G1264T:p.D422Y,HIF1A:NM_181054:exon10:c.G1264T:p.D422Y	.	453	1050	15	4	0	23	0.0108337	.	.	YES	714184	Enchondromatosis|not_provided	Human_Phenotype_Ontology:HP:0005701,MONDO:MONDO:0008145,MedGen:C0014084,OMIM:166000,Orphanet:296|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.120	.	0.0025	0.00339457	0.0042	0.0010	0.0052	0.0005	0.0003	0.0029	0.0059	0.0176	0.0038292	592	154602	rs149348765	0.0031	0.0031	0.0027	0.0035	0.0135	0.0030	0.0030	0.0128	0.0126	0.0005	0.0046	0.0046	0	0.0005	0.0098	0.0024	0.0039	0.0135	0.0026	0.0026	0.0026	0.0025	0.0119	0.0024	0.0023	0.0094	0.0085	0.0005	0.0011	0.0058	0.0038	0	0.0003	0.0210	0.0028	0.0038	0.0119	0.181	0.34982	T	0.274	0.44905	T	0.592	0.39119	P	0.285	0.40506	B	0.896885	0.07331	N	1.042340	0.999185	0.46274	D	1.67	0.42885	L	0.72	0.53516	T	-0.1	0.09135	N	0.421	0.46649	-1.0418	0.16770	T	0.088	0.33996	T	10	0.0072448254	0.00165	T	.	.	.	0.120	0.33359	.	.	0.689415230096	0.68675	0.36735301686045585	0.36649	0.206240801215	0.23047	0.452856063843	0.32334	T	0.306052	0.67827	T	-0.366052	0.03799	T	-0.287553	0.46027	T	0.0361810151235074	0.03013	T	0.938006	0.76748	D	0.104620844	0.24733	0.08811645	0.20524	0.104620844	0.24732	0.08811645	0.20524	-3.748	0.20029	T	.	.	0.098	0.16973	B	.;.;.;.;.	.;.;.;.;.	4.278755	0.65166	24.8	0.98733365136089013	0.45393	0.99019	0.90044	D	AEFDGBHIJ	0.787473	0.71724	D	0.295016695125541	0.55897	3.753701	0.42240438769022	0.62963	4.52103	0.999999694060353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.41	5.41	0.78313	5.380000	0.65953	9.810000	0.81742	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0749:0.0:0.9251:0.0	12.867	0.57332	679	0.60090	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.000000	0.008152	0.002924	0.000000	0.034483	0.024390	0.026515	0.05	910.43	41	chr14	61738101	.	G	T	910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.744;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.142;SOR=0.828	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1043	9	0	1	0
chr14	61782355	61782355	A	G	exonic	SNAPC1	.	nonsynonymous SNV	SNAPC1:NM_003082:exon8:c.A934G:p.R312G	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0074	0.00678914	0.0085	0.0049	0.0089	0.0001	0.0195	0.0099	0.0155	0.0042	0.0084604	1308	154602	rs35009885	0.0094	0.0094	0.0095	0.0093	0.0100	0.0092	0.0092	0.0098	0.0098	0.0039	0.0072	0.0084	2.521e-05	0.0177	0.0059	0.0100	0.0085	0.0051	0.0087	0.0087	0.0086	0.0087	0.0107	0.0083	0.0081	0.0101	0.0098	0.0037	0.0329	0.0090	0.0086	0.0002	0.0168	0.0306	0.0107	0.0099	0.0062	0.389	0.10874	T	0.238	0.24549	T	0.001	0.07471	B	0.002	0.06944	B	0.838642	0.09051	N	0.939170	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.19	0.09965	N	0.12	0.11054	-1.0203	0.23616	T	0.017	0.06759	T	9	0.0026750267	0.00041	T	.	.	.	0.045	0.12272	.	.	0.235038932564	0.23097	0.1920275184929156	0.19120	0.0539500850569	0.05963	0.19598403573	0.00349	T	0.017665	0.14371	T	-0.536353	0.00352	T	-0.532823	0.19006	T	5.5351836635964e-05	0.00000	T	0.346065	0.07604	T	0.034874145	0.03998	0.031332042	0.01708	0.034874145	0.03998	0.031332042	0.01708	-3.502	0.16459	T	.	.	0.065	0.02038	B	.	.	0.255270	0.06340	2.804	0.79297047313545299	0.12678	0.02827	0.07567	N	AEFGBI	0.036618	0.04908	N	-1.17294088328176	0.05412	0.24668	-1.17007560572926	0.06414	0.3087125	0.962935445345104	0.28657	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	6.17	-2.35	0.06302	0.175000	0.16577	0.322000	0.17195	-0.040000	0.17491	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3547:0.1274:0.2846:0.2333	0.776	0.00966	742	0.52873	.	.	.	.	.	rs35009885	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.014946	0.002924	0.050000	0.008621	0.000000	0.000000	0.05	1084.43	33	chr14	61782355	.	A	G	1084.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.352;DP=390;ExcessHet=0;FS=4.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=0.441;SOR=1.28	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1041	9	0	1	0
chr14	62950345	62950345	T	G	exonic	KCNH5	.	nonsynonymous SNV	KCNH5:NM_139318:exon7:c.A1157C:p.D386A,KCNH5:NM_172375:exon7:c.A1157C:p.D386A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.13075366048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.59928	D	0.121	0.35840	T	0.741	0.42992	P	0.309	0.41361	B	0.000001	0.84330	D	0.096300	1	0.81001	D	1.205	0.30389	L	-5.37	0.99036	D	-2.57	0.57275	D	0.706	0.70966	1.098	0.99565	D	0.928	0.97638	D	10	0.5492923	0.64163	D	0.130754	0.81294	D	0.748	0.91328	0.619	0.75347	0.827690693778	0.82605	0.9224044209647695	0.92217	1.63905519497	0.89343	0.760852694511	0.76055	T	0.763723	0.93620	D	0.335716	0.85547	D	0.244457	0.85358	D	0.980383813381195	0.73331	D	0.89721	0.64041	D	0.44954064	0.64011	0.39330503	0.64054	0.44954064	0.64012	0.39330503	0.64054	-11.778	0.84409	D	0.1774985195084793	0.22703	0.368	0.57701	A	.;.;.	.;.;.	4.434012	0.68789	25.3	0.99083724912128901	0.52027	0.98891	0.88239	D	AEFGI	0.936344	0.93253	D	0.216634950880202	0.52004	3.37757	0.36394720143319	0.59354	4.112337	0.999999977773112	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.75	5.75	0.90390	8.017000	0.88732	6.199000	0.54868	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	16.071	0.80735	901	0.24189	Ion transport domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1649.43	33	chr14	62950345	.	T	G	1649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.563;DP=479;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.742;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1087	9	0	1	0
chr14	63376108	63376108	A	C	exonic	PPP2R5E	.	nonsynonymous SNV	PPP2R5E:NM_001282180:exon14:c.T1290G:p.N430K	.	.	.	.	.	.	.	.	0.0003	0.106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1300821722	7.71e-06	7.534e-06	5.595e-06	9.836e-06	1.018e-05	4.14e-06	3.02e-06	5.46e-06	3.99e-06	0	0	0	0	0	0	1.018e-05	0	0	1.973e-05	1.971e-05	3.857e-05	0	4.412e-05	5.25e-06	2.46e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	4.17	0.00048	N	0.216	0.24135	-0.9357	0.43288	T	0.164	0.50061	T	6	0.13407686	0.25517	T	.	.	.	0.100	0.28662	0.396	0.42262	0.617410597213	0.61431	.	.	.	.	.	.	.	.	.	.	0.122412	0.66614	D	-0.0619407	0.66197	T	0.21165043965905	0.21039	T	0.555844	0.19272	T	.	.	.	.	.	.	.	.	0.902	0.00145	T	.	.	0.014	0.00000	B	.	.	1.370263	0.17801	13.38	0.85832167068922083	0.16140	0.90547	0.51813	D	AEFGBCI	0.181926	0.30924	N	0.446941669075982	0.64031	4.648598	0.4817881934047	0.66785	4.997345	0.999997999943316	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.86	5.86	0.93936	2.607000	0.45964	6.156000	0.54269	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.265	0.82400	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	33	chr14	63376108	.	A	C	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.576;DP=436;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.64;SOR=0.874	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1011	9	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	115.62	48	chr14	63599584	.	C	T	115.62	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.071;DP=618;ExcessHet=0;FS=8.833;InbreedingCoeff=-0.0661;MLEAC=1;MLEAF=0.05;MQ=58.72;MQRankSum=-9.342;QD=0.76;ReadPosRankSum=-1.12;SOR=1.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1088:.	9	0	1	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	147.14	48	chr14	63599585	.	T	G	147.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.991;DP=620;ExcessHet=0.2348;FS=10.436;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.72;MQRankSum=-8.906;QD=0.48;ReadPosRankSum=-1.034;SOR=1.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1088:.	8	0	2	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	91.43	51	chr14	63599753	.	G	A	91.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=558;ExcessHet=0;FS=3.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.9;MQRankSum=-9.12;QD=0.52;ReadPosRankSum=-2.194;SOR=1.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1088:.	9	0	1	0
chr14	63961523	63961523	A	C	splicing	SYNE2	NM_182914:exon9:c.788-2A>C;NM_015180:exon9:c.788-2A>C	.	.	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918895281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171835	0.71292	D	0.00905261	0.70921	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.056538	0.84256	28.3	0.99197596119253795	0.55171	0.96624	0.70078	D	AEFGBCI	.	.	.	1.0800374621182	0.97746	16.68608	0.909362497954891	0.95968	14.15842	0.999999997553838	0.74766	0.099367	0.02607	0	0.104858	0.03167	0	0.060301	0.00762	0	0.092715	0.02821	0	0.955725	0.63519	5.97	5.97	0.96935	8.664000	0.90884	11.123000	0.86598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	1.0:0.0:0.0:0.0	16.461	0.83887	713	0.56348	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	86.43	43	chr14	63961523	.	A	C	86.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.686;DP=586;ExcessHet=0;FS=94.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.754;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:74,0:74:99:.:.:0,120,1800:.	9	0	1	0
chr14	64017617	64017617	A	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon34:c.A4910G:p.Y1637C,SYNE2:NM_182914:exon34:c.A4910G:p.Y1637C	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	7	1495	19	1	0	21	0.00697443	.	.	.	270391	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.070	0.0279470138198	0.0003	0.000798722	0.0004	0.0001	8.639e-05	0	0	0.0007	0	0.0005	0.0003816	59	154602	rs143578863	0.0003	0.0003	0.0003	0.0004	0.0108	0.0003	0.0003	0.0086	0.0079	0.0002	0.0001	0.0005	0	0	0.0108	0.0002	0.0008	0.0008	0.0003	0.0003	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	4.811e-05	0	0.0008	0.0003	0	0	0.0102	0.0004	0.0014	0.0006	0.052	0.39097	T	0.003	0.76473	D	0.043	0.21573	B	0.035	0.22741	B	0.040195	0.24086	N	0.295883	1	0.81001	D	2.135	0.59519	M	1.35	0.59037	T	-4.23	0.78472	D	0.413	0.56489	-0.9620	0.38800	T	0.156	0.48738	T	10	0.02077666	0.00485	T	0.027947	0.50694	D	0.070	0.20419	.	.	0.433491693731	0.42969	0.2504348548407651	0.24957	0.0807992713291	0.09095	0.536102294922	0.43896	T	0.064025	0.69537	T	-0.28421	0.10226	T	-0.270179	0.47801	T	0.0706429236570103	0.08741	T	0.90371	0.66210	D	0.13872844	0.32073	0.16187179	0.37630	0.13872844	0.32073	0.16187179	0.37629	-5.54	0.42241	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	3.286480	0.45050	22.1	0.9937110309557009	0.61455	0.92023	0.54774	D	AEFGBI	0.547919	0.56142	D	-0.18535108413049	0.33745	1.917921	-0.082959710859299	0.36094	2.096212	0.0527645248028014	0.14917	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.91	2.52	0.29514	4.703000	0.61511	5.264000	0.48131	0.750000	0.87069	1.000000	0.71638	0.997000	0.33255	0.994000	0.71098	0.792:0.0:0.0737:0.1343	6.853	0.23210	688	0.59122	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.010870	0.014620	0.000000	0.017241	0.012195	0.000000	0.05	585.43	35	chr14	64017617	.	A	G	585.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.99;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1181	9	0	1	0
chr14	64021350	64021350	T	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon36:c.T5187A:p.H1729Q,SYNE2:NM_182914:exon36:c.T5187A:p.H1729Q	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	329714	not_provided|not_specified|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0095	0.00858626	0.0027	0.0304	0.0016	0	0	9.003e-05	0.0011	6.062e-05	0.0025744	398	154602	rs116597541	0.0008	0.0008	0.0009	0.0007	0.0277	0.0008	0.0008	0.0262	0.0256	0.0277	0.0015	0	0	0	0.0021	7.914e-05	0.0016	6.956e-05	0.0084	0.0084	0.0088	0.0079	0.0289	0.0080	0.0078	0.0275	0.0270	0.0289	0	0.0027	0	0	0	0.0238	0.0001	0.0062	0.0004	0.188	0.21304	T	0.466	0.12421	T	0.001	0.07471	B	0.001	0.04355	B	0.173541	0.03129	N	1.669250	1	0.08975	N	0.55	0.14455	N	0.84	0.55945	T	-3.06	0.64826	D	0.126	0.25989	-1.0572	0.12465	T	0.017	0.07092	T	10	0.0020218194	0.00028	T	.	.	.	0.035	0.08770	0.302	0.27003	0.152612264143	0.14878	0.07006278187069753	0.06943	0.0485055709482	0.05301	0.300116181374	0.10417	T	0.058514	0.59297	T	-0.65801	0.00065	T	-0.694965	0.06105	T	0.00391938009625215	0.00042	T	0.482752	0.14626	T	0.08923131	0.20843	0.15266049	0.35906	0.12264704	0.28817	0.13778064	0.32922	-1.935	0.02945	T	.	.	0.086	0.10545	B	.;.;.;.	.;.;.;.	-1.295252	0.00442	0.009	0.6646341437589095	0.08066	0.01701	0.05409	N	AEFDGBI	0.026842	0.02085	N	-1.62737622650779	0.01134	0.04925509	-1.6043881631377	0.01629	0.07391312	0.545681046523945	0.21291	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	-6.48	0.01726	-1.370000	0.02682	-5.172000	0.01820	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.874000	0.41677	0.4822:0.3305:0.0:0.1872	5.999	0.18738	690	0.58899	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.005051	0.010870	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1241.43	34	chr14	64021350	.	T	A	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=428;ExcessHet=0;FS=2.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.216;SOR=0.49	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr14	64137860	64137860	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon79:c.C14720T:p.A4907V,SYNE2:NM_182914:exon79:c.C14720T:p.A4907V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	693550	not_provided|SYNE2-related_disorder|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:C3661900|.|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.055	.	0.0002	0.00159744	0.0014	0.0005	0	0	0	2.999e-05	0.0011	0.0101	0.0012225	189	154602	rs144804554	0.0006	0.0006	0.0004	0.0009	0.0093	0.0006	0.0006	0.0088	0.0086	0.0006	0	0	2.519e-05	0	0	2.788e-05	0.0011	0.0093	0.0005	0.0005	0.0004	0.0006	0.0102	0.0004	0.0004	0.0079	0.0071	0.0006	0	6.539e-05	0	0	0	0	2.941e-05	0	0.0102	1.0	0.00964	T	0.048	0.49663	D	0.856	0.47190	P	0.127	0.32738	B	0.125788	0.18829	N	0.483471	0.999999	0.08975	N	0.895	0.22405	L	1.22	0.37052	T	-0.06	0.13035	N	0.094	0.30004	-1.0286	0.20908	T	0.036	0.15509	T	10	0.0034236908	0.00060	T	.	.	.	0.055	0.15663	.	.	0.137902524267	0.13322	0.05526171534263725	0.05467	0.0641671325935	0.07151	0.285294800997	0.08241	T	0.013144	0.25226	T	-0.58395	0.00182	T	-0.603618	0.12508	T	0.0104608866911503	0.00144	T	0.650635	0.27986	T	0.0282787	0.02142	0.029264903	0.01245	0.028304959	0.02146	0.028704945	0.01132	-3.109	0.11399	T	.	.	0.089	0.11989	B	.;.;.;.;.	.;.;.;.;.	2.327579	0.29814	18.24	0.96379556773942376	0.29614	0.06438	0.12444	N	AEFDGBHCI	0.057275	0.10656	N	-0.620216225792897	0.18337	0.9512335	-0.599182336211541	0.19513	1.047317	0.935394244120833	0.27211	0.743674	0.98306	0	0.635938	0.57008	0	0.630245	0.45026	0	0.572988	0.34948	1	.	.	5.87	1.94	0.25058	1.312000	0.33179	-0.205000	0.10907	0.599000	0.40250	0.056000	0.21631	0.000000	0.08366	0.991000	0.66497	0.1161:0.5334:0.2247:0.1258	4.580	0.11651	551	0.72115	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	1037.43	35	chr14	64137860	.	C	T	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.117;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.4;SOR=0.734	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,986	9	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,40:148:99:0|1:64158707_T_C:494,0,3029:64158707	0	0	8	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1706.15	87	chr14	64158708	.	G	A	1706.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.709;DP=980;ExcessHet=2.8389;FS=221.069;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.08;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,40:148:99:0|1:64158707_T_C:494,0,3029:64158707	5	0	5	0
chr14	64220540	64220540	A	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon4:c.A488T:p.Q163L,SYNE2:NM_182913:exon6:c.A866T:p.Q289L,SYNE2:NM_015180:exon110:c.A19895T:p.Q6632L,SYNE2:NM_182914:exon111:c.A19964T:p.Q6655L	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1510	12	0	0	12	0.00395778	.	.	.	265907	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|SYNE2-related_disorder|not_specified|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0522778576277	0.0020	0.00139776	0.0022	0.0006	0.0030	0	0.0005	0.0030	0.0022	0.0013	0.0022315	345	154602	rs149978500	0.0031	0.0031	0.0030	0.0031	0.0140	0.0030	0.0030	0.0116	0.0107	0.0005	0.0026	0.0056	0	0.0004	0.0140	0.0034	0.0035	0.0010	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0022	0.0061	0	0.0003	0.0102	0.0030	0.0014	0.0008	0.043	0.42199	D	0.043	0.50226	D	0.313	0.32852	B	0.216	0.40739	B	0.819387	0.09190	N	0.902853	0.999983	0.54805	D	2.5	0.72771	M	0.55	0.54728	T	-5.81	0.90023	D	0.378	0.47765	-0.8931	0.48659	T	0.176	0.51990	T	10	0.00549531	0.00121	T	0.052278	0.65005	D	0.075	0.21907	.	.	0.522717468363	0.51916	0.45877102385961166	0.45795	0.137024195531	0.15452	0.300396084785	0.10460	T	0.089375	0.64994	T	-0.422152	0.01658	T	-0.380325	0.35684	T	0.0586289400915562	0.06951	T	0.768523	0.40460	T	0.19553134	0.41346	0.23880059	0.49212	0.19553134	0.41345	0.23880059	0.49211	-6.461	0.50548	T	.	.	0.117	0.32054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.856687	0.12288	8.831	0.6130389617898947	0.06675	0.26272	0.22945	N	AEFDGBHCI	0.118171	0.23119	N	-0.571187478070026	0.19825	1.040569	-0.609017110530634	0.19261	1.032633	0.999996949742486	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	2.37	0.28337	0.720000	0.25566	1.050000	0.23629	0.756000	0.94297	0.059000	0.21734	0.019000	0.20708	0.023000	0.12082	0.6331:0.0:0.1289:0.2379	4.714	0.12267	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.008152	0.002924	0.000000	0.034483	0.000000	0.000000	0.05	1455.43	34	chr14	64220540	.	A	T	1455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.748;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-2.059;SOR=0.708	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	9	0	1	0
chr14	64220587	64220587	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon4:c.G535A:p.A179T,SYNE2:NM_182913:exon6:c.G913A:p.A305T,SYNE2:NM_015180:exon110:c.G19942A:p.A6648T,SYNE2:NM_182914:exon111:c.G20011A:p.A6671T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	191116	not_specified|not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.008	0.0225443978429	0.0041	0.00139776	0.0035	0.0004	0.0007	0	0.0068	0.0052	0.0033	0.0008	0.0033635	520	154602	rs34820571	0.0042	0.0042	0.0043	0.0042	0.0057	0.0042	0.0041	0.0045	0.0045	0.0010	0.0011	0.0081	2.519e-05	0.0079	0.0057	0.0047	0.0034	0.0009	0.0033	0.0033	0.0032	0.0033	0.0048	0.0030	0.0029	0.0044	0.0042	0.0009	0.0110	0.0014	0.0075	0	0.0062	0	0.0048	0.0024	0.0004	0.37	0.16358	T	0.448	0.19188	T	0.382	0.39680	B	0.079	0.34953	B	0.062490	0.22094	N	0.373876	0.999999	0.08975	N	2.535	0.73915	M	0.65	0.52642	T	-1.18	0.38540	N	0.164	0.19325	-1.0528	0.13628	T	0.071	0.28806	T	10	0.004609406	0.00096	T	0.022544	0.45449	T	0.008	0.00669	.	.	0.279370189704	0.27548	0.07834378687969099	0.07770	0.0497957064675	0.05466	0.272646069527	0.06488	T	0.033927	0.28460	T	-0.537098	0.00348	T	-0.541252	0.18174	T	0.00815764141995347	0.00097	T	0.579642	0.22516	T	0.051314246	0.09403	0.04531847	0.06070	0.04942148	0.08772	0.04327118	0.05345	-5.441	0.41999	T	.	.	0.081	0.08754	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.438972	0.08091	4.818	0.68426260629147562	0.08655	0.11708	0.16810	N	ALL	0.094411	0.19089	N	-0.81693554088599	0.12878	0.630608	-0.892363653910298	0.12274	0.6304249	0.99999994589961	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	6.17	0.56	0.16465	-0.217000	0.09258	0.021000	0.13590	-0.735000	0.03699	0.000000	0.06391	0.000000	0.08366	0.028000	0.12845	0.2561:0.0:0.5889:0.155	7.366	0.25948	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	rs34820571	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.010101	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	653.43	34	chr14	64220587	.	G	A	653.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.553;DP=395;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.07;ReadPosRankSum=-0.561;SOR=0.866	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1123	9	0	1	0
chr14	64221672	64221672	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_182910:exon5:c.C724T:p.R242W,SYNE2:NM_182913:exon7:c.C1102T:p.R368W,SYNE2:NM_015180:exon111:c.C20089T:p.R6697W,SYNE2:NM_182914:exon112:c.C20158T:p.R6720W	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	191117	not_specified|not_provided|Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.091	0.015996848739	0.0039	0.00119808	0.0034	0.0005	0.0006	0	0.0085	0.0048	0.0033	0.0010	0.0006015	93	154602	rs35700578	0.0042	0.0042	0.0042	0.0041	0.0045	0.0041	0.0040	0.0044	0.0044	0.0014	0.0009	0.0070	2.519e-05	0.0087	0.0040	0.0045	0.0035	0.0009	0.0031	0.0031	0.0030	0.0032	0.0045	0.0029	0.0028	0.0041	0.0039	0.0009	0.0110	0.0014	0.0063	0	0.0075	0	0.0045	0.0009	0.0004	0.001	0.78490	D	0.003	0.76473	D	0.899	0.52277	P	0.526	0.60522	P	0.018202	0.27535	N	0.255751	1	0.81001	D	0	0.06538	N	1.31	0.35405	T	-3.01	0.66436	D	0.339	0.41063	-0.9855	0.33711	T	0.066	0.27156	T	10	0.0045284927	0.00093	T	0.015997	0.37036	T	0.091	0.26358	.	.	0.42538462244	0.42159	0.09189272209917497	0.09122	0.204032014099	0.22819	0.220042616129	0.01312	T	0.07209	0.58432	T	-0.502254	0.00555	T	-0.491479	0.23236	T	0.036418434550219	0.03054	T	0.673733	0.38939	T	0.07776571	0.17670	0.096428074	0.22912	0.1014082	0.23954	0.10737343	0.25848	-7.874	0.60208	D	.	.	0.098	0.18164	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.933926	0.38987	20.9	0.74394793448331165	0.10679	0.85618	0.44770	D	AEFDGBIJ	0.609492	0.59867	D	-0.273074849157489	0.30192	1.681182	-0.26792372481127	0.29162	1.631611	0.999805911595196	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	5.18	0.71140	1.191000	0.31747	1.823000	0.29055	0.599000	0.40250	0.707000	0.28693	0.140000	0.23083	0.005000	0.06747	0.255:0.6219:0.123:0.0	11.257	0.48292	667	0.61242	.;.;.;.;.;.;.	.	.	.	.	rs35700578	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.010101	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	1032.43	39	chr14	64221672	.	C	T	1032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.8;DP=437;ExcessHet=0;FS=2.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-1.546;SOR=1.051	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr14	64468430	64468430	C	G	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.C36G:p.N12K	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0100165655719	0.0008	0.000599042	0.0010	0.0003	0.0003	0	0	0.0010	0.0023	0.0033	0.0009961	154	154602	rs61755983	0.0009	0.0009	0.0007	0.0010	0.0047	0.0008	0.0008	0.0041	0.0040	0.0003	0.0003	3.883e-05	0	0	0.0047	0.0007	0.0009	0.0045	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0002	0	0.0003	0	0	0	0.0034	0.0009	0.0005	0.0027	0.029	0.45756	D	0.148	0.32675	T	0.501	0.37169	P	0.086	0.29521	B	0.004005	0.34221	N	0.252498	1	0.81001	D	1.67	0.42885	L	1.8	0.25344	T	-3.32	0.66085	D	0.14	0.13911	-1.0433	0.16324	T	0.028	0.12058	T	10	0.008371741	0.00190	T	0.010017	0.26057	T	0.041	0.10877	0.253	0.19223	0.599568711273	0.59638	0.15461105324369417	0.15382	0.254738684408	0.28049	0.371361285448	0.21027	T	0.735101	0.92617	D	-0.579912	0.00193	T	-0.606936	0.12236	T	0.0462862226696592	0.04835	T	0.562644	0.19782	T	0.16680238	0.37038	0.22020969	0.46788	0.16680238	0.37038	0.22020969	0.46787	-3.12	0.11527	T	.	.	0.308	0.54235	B	.;.	.;.	2.003840	0.25460	16.77	0.98676538682533266	0.44554	0.84406	0.43488	D	AEFGBI	0.216599	0.34182	N	-0.250678006836125	0.31077	1.738987	-0.147237804714883	0.33514	1.917915	0.999966973416111	0.48965	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	2.43	0.28797	0.270000	0.18372	-0.154000	0.11389	-0.176000	0.10722	0.963000	0.33788	0.109000	0.22772	0.956000	0.50813	0.0:0.6514:0.1488:0.1998	5.809	0.17720	399	0.82780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.003049	0.022727	0.05	388.43	41	chr14	64468430	.	C	G	388.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.14;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=0.064;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	9	0	1	0
chr14	64487702	64487702	C	T	exonic	ZBTB25	.	nonsynonymous SNV	ZBTB25:NM_001354683:exon3:c.G529A:p.D177N,ZBTB25:NM_006977:exon3:c.G529A:p.D177N,ZBTB25:NM_001354682:exon4:c.G646A:p.D216N,ZBTB25:NM_001354684:exon4:c.G529A:p.D177N,ZBTB25:NM_001354687:exon4:c.G529A:p.D177N,ZBTB25:NM_001354685:exon5:c.G529A:p.D177N,ZBTB25:NM_001304507:exon6:c.G529A:p.D177N,ZBTB25:NM_001354686:exon6:c.G529A:p.D177N	.	0	225	1	0	0	1	0.00221729	.	.	.	3215153	ZBTB25-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.245	0.0286523896529	0.0039	0.00219649	0.0030	0.0013	0.0092	0	0.0023	0.0034	0.0045	0	0.0030659	474	154602	rs142592421	0.0036	0.0036	0.0037	0.0035	0.0082	0.0035	0.0035	0.0075	0.0073	0.0005	0.0082	0.0038	0	0.0014	0.0016	0.0040	0.0045	2.325e-05	0.0034	0.0034	0.0034	0.0034	0.0109	0.0032	0.0031	0.0096	0.0091	0.0007	0.0011	0.0109	0.0052	0	0.0031	0	0.0037	0.0099	0	0.256	0.16793	T	0.457	0.12704	T	0.998	0.73220	D	0.82	0.59072	P	0.000000	0.84330	D	0.091907	0.999997	0.81001	D	2.045	0.56016	M	1.97	0.22067	T	-0.55	0.16799	N	0.349	0.43514	-1.1614	0.00723	T	0.055	0.23186	T	10	0.0055839717	0.00123	T	0.028652	0.51291	D	0.245	0.55201	.	.	0.314417295294	0.31040	0.24073946819514866	0.23987	0.357954956601	0.37510	0.560948193073	0.47402	T	0.019095	0.15273	T	-0.567404	0.00229	T	-0.583247	0.14255	T	0.0235499330906452	0.01090	T	0.90061	0.65471	D	0.09053666	0.21188	0.13768555	0.32904	0.09053666	0.21188	0.13768555	0.32903	-3.254	0.13151	T	.	.	0.152	0.33573	B	.;.	.;.	4.542903	0.71428	25.7	0.99839554239717465	0.92057	0.98901	0.88375	D	AEFGBHI	.	.	.	0.49599608374579	0.66854	5.004568	0.573682180059034	0.73060	5.908913	0.999999999999911	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	6.04	6.04	0.98025	5.559000	0.67030	7.702000	0.66341	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.579	0.99382	371	0.84287	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1789.43	33	chr14	64487702	.	C	T	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.907;DP=427;ExcessHet=0;FS=0.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.29;ReadPosRankSum=-0.51;SOR=0.569	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1139	9	0	1	0
chr14	64738747	64738747	G	C	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1410C:p.K470N	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	0.0055	0.00519169	0.0177	0.0023	0.0648	0.0027	0.0589	0.0184	0.0041	0.0156	0.0066429	1027	154602	rs72724477	0.0080	0.0081	0.0078	0.0082	0.0159	0.0079	0.0078	0.0148	0.0144	0.0012	0.0159	0.0040	0.0008	0.0119	0.0023	0.0078	0.0070	0.0130	0.0064	0.0064	0.0061	0.0066	0.0124	0.0060	0.0059	0.0099	0.0090	0.0018	0.0055	0.0105	0.0049	0.0010	0.0102	0	0.0079	0.0038	0.0124	0.0	0.91255	D	0.426	0.92824	T	0.999	0.77913	D	0.929	0.71005	D	0.377271	0.13440	N	0.699647	0.996422	0.81001	D	2.665	0.77964	M	1.24	0.36691	T	-2.84	0.59873	D	0.39	0.56403	-0.9027	0.47705	T	0.109	0.39509	T	10	0.0069660246	0.00158	T	.	.	.	0.156	0.40720	0.247	0.18293	0.491729458163	0.48807	0.2769457900198724	0.27607	0.65192617917	0.58404	0.628261268139	0.56898	T	0.030109	0.21421	T	-0.450265	0.01125	T	-0.405925	0.32697	T	0.026208640920483	0.01435	T	0.749925	0.37732	T	0.12395166	0.29094	0.1000488	0.23908	0.12395166	0.29094	0.1000488	0.23908	-5.124	0.39576	T	.	.	0.282	0.64658	B	.;.;.;.	.;.;.;.	3.435602	0.47770	22.5	0.99826171060265678	0.90852	0.66194	0.32994	D	AEFDBCI	0.136211	0.25681	N	0.286979450758873	0.55488	3.712822	0.217238421954152	0.50803	3.268629	0.749180870419722	0.23332	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	0.882	0.18306	2.368000	0.43875	2.153000	0.30925	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.3466:0.0:0.4994:0.154	4.446	0.11019	404	0.82510	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005612	0.005319	0.000000	0.014793	0.000000	0.000000	0.006289	0.007634	0.05	1067.43	33	chr14	64738747	.	G	C	1067.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.449;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=1.66;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	9	0	1	0
chr14	64939832	64939832	A	C	exonic	GPX2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02760	T	1.0	0.02325	T	0.002	0.09854	B	0.004	0.10090	B	0.000003	0.62929	D	0.061993	1	0.81001	D	-2.225	0.00116	N	2.29	0.17113	T	-1.67	0.52128	N	0.076	0.05037	-0.9899	0.32626	T	0.011	0.04321	T	10	0.093410015	0.16528	T	.	.	.	0.108	0.30607	0.506	0.60078	0.177238962908	0.17366	.	.	0.266804787009	0.29218	0.575413405895	0.49440	T	0.03404	0.23161	T	-0.20295	0.20379	T	-0.5293	0.19356	T	0.721415519714355	0.41770	D	0.611839	0.36078	T	0.7121782	0.78727	0.5642758	0.74783	0.7121782	0.78728	0.5642758	0.74784	.	.	.	.	.	0.137	0.29914	B	.;.;.	.;.;.	2.941298	0.39111	20.9	0.77057690323910077	0.11719	0.88007	0.47751	D	AEFGBCI	0.715921	0.66792	D	-0.586439666718952	0.19355	1.01236	-0.270819686113624	0.29065	1.625419	0.999999873352268	0.74766	0.554377	0.28877	0	0.379588	0.06130	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.06	4.9	0.63643	4.154000	0.57902	6.988000	0.57150	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8612:0.1388:0.0:0.0	12.601	0.55849	233	0.90919	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1431.43	38	chr14	64939832	.	A	C	1431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.977;DP=419;ExcessHet=0;FS=2.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.65;SOR=1.082	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	9	0	1	0
chr14	65615996	65615996	T	G	exonic	FUT8	.	nonsynonymous SNV	FUT8:NM_178156:exon3:c.T222G:p.I74M,FUT8:NM_001371533:exon4:c.T222G:p.I74M,FUT8:NM_001371536:exon4:c.T222G:p.I74M,FUT8:NM_178155:exon4:c.T222G:p.I74M,FUT8:NM_001371534:exon5:c.T222G:p.I74M	.	422	1097	3	0	0	3	0.0013655	.	.	.	904593	not_provided|Congenital_disorder_of_glycosylation_with_defective_fucosylation_1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.046	0.00639101840458	.	0.000199681	8.584e-05	0	0	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs368415291	0.0001	0.0001	0.0001	0.0001	0.0047	0.0001	0.0001	0.0033	0.0028	5.984e-05	0.0002	3.831e-05	0	0	0.0047	0.0001	0.0003	8.125e-05	5.908e-05	5.905e-05	6.424e-05	5.369e-05	0.0004	3.074e-05	2.208e-05	7.296e-05	3.031e-05	0	0	6.532e-05	0	0	0	0	8.821e-05	0	0.0004	0.181	0.21884	T	0.142	0.33330	T	0.0	0.02946	B	0.001	0.04355	B	0.006625	0.31903	N	0.383826	0.977806	0.81001	D	0.41	0.12415	N	1.95	0.22474	T	-0.32	0.12283	N	0.299	0.33796	-1.0543	0.13225	T	0.025	0.10509	T	10	0.06055504	0.07457	T	0.006391	0.16812	T	0.046	0.12618	.	.	0.251679625132	0.24793	0.20247834277608576	0.20164	0.604138712811	0.55366	0.3335519135	0.15470	T	0.185927	0.53906	T	-0.423222	0.01632	T	-0.576406	0.14867	T	0.0113774184137583	0.00169	T	0.79652	0.44001	T	0.03290703	0.03406	0.04918513	0.07464	0.03290703	0.03406	0.04918513	0.07463	-4.585	0.31982	T	0.30532263324297004	0.40293	0.065	0.01986	B	.;.	.;.	2.110556	0.26858	17.26	0.87574848574903463	0.17326	0.86747	0.46094	D	AEFGBIJ	0.211899	0.33764	N	-0.353674268639164	0.27136	1.486	-0.132646955503829	0.34084	1.956603	0.0289599853303266	0.13860	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	6.03	3.54	0.39650	2.504000	0.45076	0.993000	0.23206	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0768:0.1388:0.7843	8.640	0.33134	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.011696	0.000000	0.017241	0.000000	0.000000	0.05	1514.43	36	chr14	65615996	.	T	G	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.493;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.44;SOR=0.638	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1008	9	0	1	0
chr14	65629568	65629568	C	A	exonic	FUT8	.	nonsynonymous SNV	FUT8:NM_004480:exon5:c.C70A:p.L24M,FUT8:NM_178156:exon5:c.C559A:p.L187M,FUT8:NM_001371533:exon6:c.C559A:p.L187M,FUT8:NM_178155:exon6:c.C559A:p.L187M,FUT8:NM_001371534:exon7:c.C559A:p.L187M,FUT8:NM_001371536:exon7:c.C661A:p.L221M	.	422	1098	2	0	0	2	0.000909918	.	.	.	1422139	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.353	0.0673136587644	7.7e-05	0.000199681	0.0001	0	0.0002	0	0	2.997e-05	0.0011	0.0005	9.06e-05	14	154602	rs376707676	6.979e-05	6.977e-05	3.268e-05	0.0001	0.0009	5.848e-05	5.458e-05	0.0007	0.0007	0	0.0002	0	0	0	0.0002	8.096e-06	8.28e-05	0.0009	7.884e-05	7.875e-05	6.428e-05	9.405e-05	0.0015	4.496e-05	3.512e-05	0.0007	0.0005	0	0	6.543e-05	0	0	0	0	5.882e-05	0	0.0015	0.004	0.65419	D	0.009	0.66756	D	0.997	0.70673	D	0.999	0.92359	D	0.000006	0.62929	D	0.064980	1	0.81001	D	3.205	0.89189	M	0.61	0.53516	T	-1.53	0.37178	N	0.85	0.84817	-0.4487	0.70443	T	0.299	0.66998	T	10	0.5177108	0.62462	D	0.067314	0.70130	D	0.353	0.67418	.	.	0.605234513481	0.60207	0.6323158723869083	0.63165	1.55586283606	0.87969	0.772872507572	0.77854	T	0.531018	0.83771	D	-0.188663	0.22454	T	-0.132933	0.60724	T	0.580810010433197	0.35649	D	0.950605	0.81072	D	0.54139656	0.69474	0.21180226	0.45624	0.54139656	0.69475	0.21180226	0.45623	-7.943	0.64211	D	0.7399675953781435	0.82200	0.345	0.65109	A	.;.;.;.	.;.;.;.	4.247693	0.64452	24.7	0.99687809161750485	0.79708	0.93247	0.57710	D	AEFGBI	0.597466	0.59124	D	0.656870605763829	0.76816	6.556403	0.583143817344377	0.73733	6.018827	0.100691467084531	0.16360	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.32	4.43	0.52967	2.939000	0.48687	4.054000	0.41532	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8228:0.0:0.1772	8.481	0.32203	778	0.48011	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	776.43	35	chr14	65629568	.	C	A	776.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.745;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.458;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1102	9	0	1	0
chr14	67582079	67582079	C	T	exonic	PLEKHH1	.	nonsynonymous SNV	PLEKHH1:NM_020715:exon24:c.C3295T:p.R1099C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0412310306063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756012004	3.429e-06	4.104e-06	2.728e-06	4.138e-06	1.169e-05	1.01e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.603e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	0.999	0.77913	D	0.872	0.61918	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	0.77	0.49642	T	-4.73	0.80085	D	0.723	0.72477	-0.6358	0.63324	T	0.238	0.60583	T	10	0.8013387	0.79531	D	0.041231	0.59811	D	0.290	0.60924	0.561	0.68093	0.554077600107	0.55066	0.6088620104614142	0.60818	0.852769158703	0.68625	0.598196148872	0.52649	T	0.144	0.48040	T	0.108852	0.65232	D	-0.0814181	0.64800	T	0.988797843456268	0.79084	D	0.938306	0.76795	D	0.47935352	0.65861	0.24269311	0.49696	0.47935352	0.65861	0.24269311	0.49695	-6.856	0.52974	T	.	.	0.105	0.19276	B	.	.	5.469102	0.91250	32	0.99934209626419512	0.99535	0.78988	0.39058	D	AEFGBI	0.100647	0.20233	N	0.542567832098223	0.69632	5.384437	0.511956970120717	0.68792	5.269414	0.876101619708026	0.25519	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	4.87	4.87	0.62877	1.155000	0.31311	4.061000	0.41587	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.930000	0.46718	0.0:0.9187:0.0:0.0813	11.638	0.50477	274	0.89249	FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1056.43	34	chr14	67582079	.	C	T	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.914;DP=390;ExcessHet=0;FS=11.091;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=-0.56;SOR=0.136	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr14	67783430	67783430	C	T	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon21:c.G3722A:p.R1241Q	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1455	64	3	0	70	0.0234899	.	.	.	272829	not_specified|Spastic_paraplegia|Hereditary_spastic_paraplegia_15|not_provided|Hereditary_spastic_paraplegia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:C3661900|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.111	0.00398806377251	0.0025	0.00139776	0.0028	0.0004	0.0018	0	0.0023	0.0040	0.0055	0.0021	0.0028266	437	154602	rs140756827	0.0033	0.0033	0.0032	0.0035	0.0258	0.0032	0.0032	0.0225	0.0212	0.0006	0.0031	0.0103	2.519e-05	0.0014	0.0258	0.0032	0.0050	0.0034	0.0026	0.0026	0.0027	0.0026	0.0044	0.0024	0.0023	0.0036	0.0033	0.0004	0	0.0044	0.0089	0	0.0011	0.0136	0.0035	0.0066	0.0033	0.126	0.28026	T	0.096	0.39799	T	0.992	0.64738	D	0.579	0.50152	P	0.888350	0.08705	N	0.940006	0.999901	0.19694	N	.	.	.	1.73	0.29085	T	-0.9	0.24244	N	0.054	0.02559	-1.0229	0.22769	T	0.053	0.22346	T	10	0.004694402	0.00099	T	0.003988	0.09462	T	0.111	0.31313	.	.	0.0401082797425	0.02173	0.10019050022814473	0.09950	0.189727535353	0.21295	0.199811726809	0.00451	T	0.011711	0.10405	T	-0.628677	0.00097	T	-0.674874	0.07299	T	0.0175978062271406	0.00492	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05668	B	.;.	.;.	0.215849	0.05988	2.429	0.98064975150461631	0.37975	0.03751	0.09056	N	AEFDGBI	0.085768	0.17389	N	-1.19752000019068	0.05038	0.2287309	-1.51220344515791	0.02250	0.1031851	0.999992551724546	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-10.9	0.00151	-0.433000	0.07017	-2.135000	0.04161	-0.852000	0.02700	0.010000	0.18352	0.000000	0.08366	0.017000	0.10941	0.3101:0.2991:0.0:0.3909	5.626	0.16761	183	0.92871	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.023690	0.005051	0.027174	0.035088	0.000000	0.025862	0.030675	0.007576	0.05	693.43	34	chr14	67783430	.	C	T	693.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=409;ExcessHet=0;FS=6.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.061;SOR=0.26	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1099	9	0	1	0
chr14	68611075	68611075	C	G	exonic	RAD51B	.	nonsynonymous SNV	RAD51B:NM_001321821:exon11:c.C1106G:p.P369R	.	440	1074	8	0	0	8	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00836541883783	.	.	0.0001	0	0	0	0	0.0005	0	0	4.53e-05	7	154602	rs575962752	0.0003	0.0003	0.0004	0.0003	0.0017	0.0003	0.0003	0.0008	0.0006	0	0.0001	0.0006	0	5.925e-05	0.0017	0.0005	0.0004	3.186e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0003	0	0	0	0	0.0005	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.028	0.19712	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	.	.	.	0.78	0.49358	T	-0.05	0.07736	N	0.098	0.07949	-1.0007	0.29717	T	0.083	0.32556	T	8	0.02929002	0.01056	T	0.008365	0.22130	T	0.005	0.00259	.	.	0.321393169273	0.31749	0.08591457832830823	0.08525	.	.	.	.	.	0.004643	0.04050	T	-0.51428	0.00475	T	-0.624785	0.10813	T	0.0189758429385147	0.00606	T	0.315368	0.06236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04932	B	.	.	0.923000	0.12977	9.486	0.95016532749588101	0.25995	0.02991	0.07848	N	AEFGBI	0.032532	0.03694	N	-0.919929528736979	0.10376	0.4955524	-1.04213230178231	0.08871	0.4383686	0.999902942070772	0.45458	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	2.29	0.399	0.15547	0.047000	0.13941	-0.039000	0.12693	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.6674:0.0:0.3326	4.552	0.11517	512	0.75040	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1281.43	41	chr14	68611075	.	C	G	1281.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.518;DP=511;ExcessHet=0;FS=3.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.181;SOR=0.458	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1085	9	0	1	0
chr14	69054144	69054144	C	T	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.G2539A:p.G847R,DCAF5:NM_001284207:exon9:c.G2296A:p.G766R,DCAF5:NM_003861:exon9:c.G2542A:p.G848R	.	.	.	.	.	.	.	.	.	.	.	2195961	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.277	0.0770020904721	.	.	2.472e-05	0	0	0	0	2.998e-05	0	6.056e-05	1.94e-05	3	154602	rs772864002	2.941e-05	2.941e-05	2.722e-05	3.163e-05	3.687e-05	2.216e-05	1.97e-05	2.743e-05	2.468e-05	0	0	0	0	0	0	3.687e-05	1.656e-05	1.159e-05	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.205	0.27145	T	0.998	0.73220	D	0.871	0.61869	P	0.000363	0.45194	D	0.097482	0.999823	0.49512	D	1.04	0.26193	L	-0.84	0.74265	T	-1.77	0.41809	N	0.64	0.83371	-0.0608	0.80976	T	0.448	0.78366	T	10	0.45510146	0.58940	T	0.077002	0.72666	D	0.277	0.59375	0.217	0.13788	0.45509904304	0.45135	0.18738953048291465	0.18656	0.878634295547	0.69672	0.649935722351	0.59977	T	0.047153	0.27638	T	0.0658027	0.60335	T	-0.0464013	0.67268	D	0.765022873878479	0.44144	D	0.873013	0.58094	D	0.3914975	0.60138	0.42509642	0.66329	0.3914975	0.60138	0.42509642	0.66329	-3.803	0.23938	T	.	.	0.137	0.57098	B	.;.;.;.	.;.;.;.	4.379325	0.67488	25.1	0.99875856960532605	0.95328	0.96710	0.70526	D	AEFGBI	0.681467	0.64481	D	0.475924646045749	0.65688	4.854004	0.4646799999077	0.65664	4.852574	0.999999999922022	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.09	5.09	0.68647	5.250000	0.65252	7.737000	0.67919	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	18.689	0.91535	876	0.30350	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2248.43	33	chr14	69054144	.	C	T	2248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=479;ExcessHet=0;FS=2.042;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=0.112;SOR=0.568	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1097	9	0	1	0
chr14	69054884	69054884	G	A	exonic	DCAF5	.	nonsynonymous SNV	DCAF5:NM_001284206:exon9:c.C1799T:p.A600V,DCAF5:NM_001284207:exon9:c.C1556T:p.A519V,DCAF5:NM_003861:exon9:c.C1802T:p.A601V	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0222368397432	0.0002	0.000399361	0.0009	0	8.637e-05	0.0002	0	0.0004	0.0011	0.0047	0.0007697	119	154602	rs138177045	0.0004	0.0004	0.0003	0.0006	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	2.236e-05	0	5.038e-05	0	0.0045	0.0001	0.0006	0.0045	0.0003	0.0003	0.0002	0.0003	0.0042	0.0002	0.0002	0.0028	0.0023	9.626e-05	0	0	0	0.0002	0	0.0068	0.0002	0.0005	0.0042	0.309	0.14111	T	0.296	0.20615	T	0.0	0.02946	B	0.0	0.01387	B	0.209469	0.16400	N	0.587434	1	0.08975	N	0.345	0.11182	N	-0.27	0.67367	T	-0.55	0.16799	N	0.018	0.00527	-0.9930	0.31827	T	0.143	0.46495	T	10	0.0044243336	0.00090	T	0.022237	0.45108	T	0.125	0.34456	.	.	0.102598925029	0.09809	0.08701831296950793	0.08634	0.207032986661	0.23145	0.256115347147	0.04440	T	0.024437	0.18465	T	-0.574157	0.00209	T	-0.596697	0.13091	T	0.0150448754977393	0.00324	T	0.587941	0.21519	T	0.01599687	0.00170	0.02888056	0.01166	0.01599687	0.00170	0.02888056	0.01166	-3.322	0.14022	T	.	.	0.064	0.03552	B	.;.;.;.	.;.;.;.	0.708183	0.10771	7.457	0.95040214092727904	0.26046	0.22655	0.21819	N	AEFDGBI	0.100752	0.20251	N	-0.895888754659229	0.10939	0.5253329	-0.900138240396138	0.12090	0.6199337	0.999982996662421	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.17	1.26	0.20534	1.862000	0.39088	3.501000	0.38778	-0.103000	0.15852	0.496000	0.26925	0.997000	0.33255	0.169000	0.20946	0.2784:0.1215:0.6001:0.0	6.388	0.20777	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.003788	0.05	2200.43	39	chr14	69054884	.	G	A	2200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.792;DP=531;ExcessHet=0;FS=3.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.062;SOR=0.885	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr14	69328510	69328510	T	C	exonic	GALNT16	.	nonsynonymous SNV	GALNT16:NM_001168368:exon6:c.T629C:p.L210P,GALNT16:NM_020692:exon6:c.T629C:p.L210P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.267366769986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.83170	D	0.000083	0.51296	D	0.079672	1	0.81001	D	4.205	0.97843	H	-0.44	0.69777	T	-6.47	0.91479	D	0.987	0.99548	0.680	0.92926	D	0.664	0.88347	D	10	0.9647329	0.95935	D	0.267367	0.89745	D	0.804	0.93621	0.816	0.93060	0.694656268378	0.69202	0.9751610198861174	0.97506	1.44904736646	0.86117	0.747335731983	0.74054	T	0.482356	0.81054	T	0.356632	0.86993	D	0.275	0.86824	D	0.997934460639954	0.92797	D	0.836316	0.51656	T	0.9594339	0.97223	0.93077844	0.97148	0.9594339	0.97224	0.93077844	0.97149	-16.307	0.98185	D	.	.	0.999	0.98268	P	.;.;.	.;.;.	5.099999	0.85214	28.5	0.99843109237915306	0.92316	0.96166	0.67836	D	AEFGBI	0.933087	0.92444	D	0.806427544532338	0.86506	8.907573	0.651882694859073	0.78750	6.939731	0.999999934014124	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	5.39	5.39	0.77615	5.918000	0.69728	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.0:0.0:0.0:1.0	15.07	0.71695	824	0.40336	Glycosyltransferase 2-like;Glycosyltransferase 2-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	903.43	35	chr14	69328510	.	T	C	903.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.023;DP=437;ExcessHet=0;FS=3.735;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.13;ReadPosRankSum=-1.859;SOR=0.664	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	9	0	1	0
chr14	69571717	69571717	C	T	exonic	CCDC177	.	nonsynonymous SNV	CCDC177:NM_001271507:exon2:c.G1906A:p.E636K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0805080955331	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs533041668	1.853e-05	1.642e-05	1.755e-05	1.962e-05	0.0008	1.21e-05	9.83e-06	0.0005	0.0004	0	0	0	0	0	0	1.087e-06	6.869e-05	0.0008	5.255e-05	5.25e-05	2.57e-05	8.061e-05	0.0015	2.556e-05	1.83e-05	0.0007	0.0005	2.406e-05	0	0	0	0	0	0	0	0	0.0015	.	.	.	0.109	0.37449	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.175	0.29870	L	1.48	0.31731	T	.	.	.	0.575	0.59732	.	.	.	.	.	.	.	0.10809696	0.20106	T	0.080508	0.73476	D	.	.	.	.	0.227260227426	0.22338	0.0959834354285696	0.09530	.	.	0.74029558897	0.73016	T	0.021988	0.17030	T	-0.0898745	0.38098	T	-0.366875	0.37253	T	.	.	.	0.80342	0.45053	T	0.20816322	0.43044	0.3950038	0.64180	0.20816322	0.43044	0.3950038	0.64180	-3.69	0.19171	T	.	.	0.296	0.52639	B	.	.	4.322321	0.66157	24.9	0.97554175575518964	0.34582	0.96334	0.68631	D	AEFDGBCI	0.815046	0.73712	D	.	.	.	.	.	.	0.999999999238684	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.6	3.69	0.41483	6.080000	0.70936	2.696000	0.34125	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.9203:0.0:0.0797	13.066	0.58445	408	0.82256	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1741.43	37	chr14	69571717	.	C	T	1741.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.223;DP=456;ExcessHet=0;FS=5.107;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.662;SOR=0.401	GT:AD:DP:GQ:PL	0/1:64,75:139:99:1753,0,1383	9	0	1	0
chr14	70168056	70168056	T	C	exonic	SLC8A3	.	nonsynonymous SNV	SLC8A3:NM_033262:exon2:c.A367G:p.T123A,SLC8A3:NM_058240:exon2:c.A367G:p.T123A,SLC8A3:NM_182932:exon2:c.A367G:p.T123A,SLC8A3:NM_183002:exon2:c.A367G:p.T123A	.	433	1082	7	0	0	7	0.00322432	.	.	.	3922076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.00713236161356	.	0.000199681	4.945e-05	0	0	0	0	4.497e-05	0	0.0002	4.53e-05	7	154602	rs531333275	2.531e-05	2.531e-05	1.906e-05	3.163e-05	0.0007	1.868e-05	1.631e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.259e-05	0.0001	0.0001	1.313e-05	1.312e-05	0	2.685e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	1.47e-05	0	0	0.088	0.32769	T	0.46	0.13557	T	0.332	0.34453	B	0.279	0.44513	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	1.3	0.36872	T	-1.29	0.32387	N	0.744	0.74553	-0.8709	0.50462	T	0.188	0.53886	T	10	0.364243	0.52974	T	0.007132	0.18896	T	0.216	0.50959	0.379	0.39482	0.490693190711	0.48701	0.8238486526956952	0.82341	0.166389379044	0.18776	0.70034635067	0.67193	T	0.242924	0.61176	T	-0.0663841	0.41903	T	-0.0964641	0.63670	T	0.273327678442001	0.23889	T	0.79822	0.44280	T	0.18192248	0.39385	0.21921542	0.46653	0.18192248	0.39385	0.21921542	0.46652	-8.244	0.62720	D	.	.	0.138	0.32493	B	.;.;.;.;.	.;.;.;.;.	4.504384	0.70476	25.5	0.99053506747412612	0.51321	0.97706	0.76549	D	AEFGBI	0.917962	0.88634	D	0.483745724333648	0.66142	4.91184	0.525875986342814	0.69737	5.403258	0.999986756192924	0.51787	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	8.011000	0.88184	7.950000	0.75812	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.798	0.69520	665	0.61472	.;Sodium/calcium exchanger membrane region;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1135.43	37	chr14	70168056	.	T	C	1135.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.272;DP=732;ExcessHet=0;FS=4.476;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.375;SOR=0.618	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr14	70761150	70761150	G	T	exonic	MAP3K9	.	nonsynonymous SNV	MAP3K9:NM_001284230:exon3:c.C853A:p.L285M,MAP3K9:NM_001284231:exon3:c.C64A:p.L22M,MAP3K9:NM_033141:exon3:c.C853A:p.L285M	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	.	.	0.00339457	0.0017	0	9.056e-05	0	0	0	0	0.0120	0.0013907	215	154602	rs557062833	0.0007	0.0007	0.0004	0.0010	0.0109	0.0007	0.0006	0.0103	0.0101	2.987e-05	2.236e-05	0	0	0	0.0007	5.396e-06	0.0009	0.0109	0.0004	0.0004	0.0003	0.0005	0.0115	0.0003	0.0003	0.0090	0.0082	0	0	0	0	0.0002	0	0	0	0	0.0115	0.132	0.63226	T	0.214	0.26549	T	0.95	0.53885	P	0.854	0.60866	P	0.000001	0.84330	D	0.000000	0.999629	0.81001	D	1.315	0.32790	L	-2.45	0.88847	D	-1.44	0.35399	N	0.464	0.55799	0.320	0.87879	D	0.691	0.89345	D	10	0.009439051	0.00213	T	.	.	.	0.462	0.75889	0.44	0.49484	0.717921191499	0.71544	0.5994536810291854	0.59876	0.967676190881	0.73244	0.591045260429	0.51641	T	0.043474	0.42156	T	-0.239436	0.15421	T	-0.107314	0.62825	T	0.0477872287361761	0.05105	T	0.761424	0.38629	T	0.5825429	0.71747	0.39504215	0.64182	0.5825429	0.71748	0.39504215	0.64182	-6.291	0.48650	T	.	.	0.161	0.45074	B	.;.;.;.;.	.;.;.;.;.	4.159624	0.62453	24.5	0.99621680046477301	0.75473	0.90553	0.51824	D	AEFGBI	0.287741	0.39981	N	0.365690256074011	0.59573	4.137806	0.407310559263604	0.62021	4.410657	0.995327852794331	0.34065	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.13	4.16	0.48138	2.560000	0.45559	3.436000	0.38348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0825:0.0:0.9175:0.0	14.214	0.65323	782	0.47442	Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1197.43	38	chr14	70761150	.	G	T	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.971;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.675;SOR=0.798	GT:AD:DP:GQ:PL	0/1:34,50:84:99:1209,0,779	9	0	1	0
chr14	70962264	70962264	G	A	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon3:c.G401A:p.R134Q,PCNX1:NM_014982:exon3:c.G401A:p.R134Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0427570453889	.	.	1.648e-05	9.612e-05	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs768926819	9.581e-06	9.577e-06	6.81e-06	1.238e-05	8.117e-05	5.56e-06	4.35e-06	3.766e-05	2.662e-05	2.989e-05	0	0	5.038e-05	0	0	2.699e-06	1.657e-05	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.338	0.21078	T	0.997	0.70673	D	0.968	0.71741	D	0.002736	0.36034	N	0.181371	0.999992	0.58761	D	2.31	0.66127	M	0.14	0.60854	T	-1.32	0.32991	N	0.691	0.75466	-0.5252	0.67722	T	0.339	0.70551	T	10	0.5095879	0.62018	D	0.042757	0.60630	D	0.204	0.49076	0.199	0.11247	0.397201501934	0.39331	0.5031758484258592	0.50239	0.559778919384	0.52519	0.637775301933	0.58248	T	0.030	0.21272	T	0.0199444	0.54375	T	-0.0275998	0.68528	D	0.726006090641022	0.42004	D	0.955704	0.84657	D	0.19222574	0.40883	0.13126524	0.31524	0.19222574	0.40883	0.13126524	0.31523	-3.815	0.21029	T	.	.	0.121	0.51703	B	.;.	.;.	5.377539	0.90137	31	0.99912463565030163	0.98167	0.97072	0.72527	D	AEFBI	0.850707	0.76754	D	0.722979460909113	0.81140	7.452754	0.72772032395482	0.84482	8.304613	0.999999919952011	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.653000	0.82698	11.692000	0.94371	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.288	0.94074	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	991.43	37	chr14	70962264	.	G	A	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.053;DP=429;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.868;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	9	0	1	0
chr14	70978397	70978397	G	A	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon6:c.G2060A:p.R687H,PCNX1:NM_014982:exon6:c.G2060A:p.R687H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0109355228331	7.7e-05	.	3.295e-05	0	0	0.0002	0	2.998e-05	0	0	2.59e-05	4	154602	rs144058686	8.209e-06	8.209e-06	6.806e-06	9.625e-06	8.961e-05	4.38e-06	3.46e-06	2.374e-05	1.258e-05	8.961e-05	0	0	7.557e-05	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03412	T	1.0	0.06386	T	0.038	0.21002	B	0.011	0.15521	B	0.005243	0.32962	N	0.360744	0.999979	0.58761	D	0.895	0.22405	L	5.62	0.00808	T	2.2	0.01387	N	0.097	0.16725	-0.4397	0.70740	T	0.002	0.00615	T	10	0.06983194	0.10075	T	0.010936	0.28041	T	0.155	0.40530	.	.	0.043077524339	0.03247	0.2589462354852953	0.25808	0.133933729564	0.15087	0.4812464118	0.36228	T	0.017891	0.14518	T	-0.396748	0.02432	T	-0.543249	0.17979	T	0.13301440237095	0.15658	T	0.927007	0.82069	D	0.04056355	0.05814	0.045513406	0.06140	0.04056355	0.05813	0.045513406	0.06140	-4.023	0.24147	T	.	.	0.089	0.13597	B	.;.	.;.	3.668784	0.52162	23.2	0.89444814098725922	0.18802	0.95856	0.66447	D	AEFGBI	0.617801	0.60385	D	-0.10009611534597	0.37387	2.174514	0.16141639929341	0.47750	3.000567	0.999999996918441	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	6.781000	0.74843	11.762000	0.95653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	20.207	0.98282	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1714.43	41	chr14	70978397	.	G	A	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.22;DP=478;ExcessHet=0;FS=3.826;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.14;ReadPosRankSum=-1.403;SOR=0.408	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1293	9	0	1	0
chr14	72671174	72671174	G	A	exonic	DPF3	.	nonsynonymous SNV	DPF3:NM_001280544:exon9:c.C1201T:p.R401W,DPF3:NM_012074:exon9:c.C1036T:p.R346W,DPF3:NM_001280543:exon10:c.C1066T:p.R356W	.	375	1146	1	0	0	1	0.00043611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0389887153411	0.0007	0.000199681	0.0015	0.0002	0.0005	0	0.0003	0.0022	0	0.0013	0.0013583	210	154602	rs202093453	0.0014	0.0014	0.0014	0.0014	0.0016	0.0013	0.0013	0.0016	0.0015	0.0001	0.0007	0.0002	5.038e-05	0.0002	0.0007	0.0016	0.0013	0.0011	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0.0009	0	0.0002	0	0.0013	0	0.0004	0.008	0.63226	D	0.009	0.66756	D	0.923	0.51194	P	0.237	0.38508	B	.	.	.	.	1	0.81001	D	.	.	.	-0.25	0.67367	T	0.25	0.04456	N	0.439	0.58798	-0.9468	0.41515	T	0.145	0.46932	T	9	0.019008636	0.00419	T	0.038989	0.58547	D	0.136	0.36778	.	.	0.110392049598	0.10638	0.18238322238515803	0.18157	0.406304590416	0.41509	0.584595441818	0.50732	T	0.008626	0.07910	T	-0.35941	0.04164	T	-0.296308	0.45112	T	0.0458012730303752	0.04748	T	0.872113	0.57861	D	.	.	.	.	.	.	.	.	-6.275	0.48524	T	.	.	0.140	0.30555	B	.;.;.;.	.;.;.;.	3.526902	0.49461	22.8	0.99885393253188948	0.96049	0.80533	0.40146	D	AEFDBI	0.695119	0.65389	D	0.136375810566896	0.48167	3.032505	0.242519510316064	0.52226	3.398774	0.999831403395873	0.43792	0.615465	0.37627	0	0.588066	0.40923	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.79	4.82	0.61641	1.771000	0.38172	6.948000	0.57014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.117:0.3984:0.4846	7.575	0.27098	914	0.21048	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	1691.43	41	chr14	72671174	.	G	A	1691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.121;DP=462;ExcessHet=0;FS=5.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.145;SOR=0.375	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr14	73106040	73106040	C	T	exonic	RBM25	.	nonsynonymous SNV	RBM25:NM_021239:exon11:c.C1336T:p.L446F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0464962692576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.269	0.22426	T	0.998	0.73220	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.16	0.60381	M	0.88	0.46028	T	-2.02	0.46503	N	0.518	0.55193	-0.7655	0.57104	T	0.223	0.58703	T	10	0.46214104	0.59349	T	0.046496	0.62485	D	0.108	0.30607	0.377	0.39156	0.663738440163	0.66091	0.09319656364216099	0.09251	1.14376744994	0.79013	0.855810880661	0.90488	D	0.159106	0.50241	T	-0.0553563	0.43631	T	-0.317292	0.42871	T	0.850748300552368	0.50230	D	0.950805	0.81197	D	0.168968	0.37385	0.21357627	0.45873	0.168968	0.37385	0.21357627	0.45872	-10.76	0.78325	D	.	.	0.931	0.85082	P	.;.	.;.	4.020895	0.59386	24.1	0.9961543665055973	0.75052	0.96661	0.70270	D	AEFDBI	0.524343	0.54757	D	0.689022882425607	0.78914	6.968313	0.697428597593658	0.82181	7.704495	0.999999911178444	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	2.246000	0.42794	5.913000	0.51050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9309:0.0:0.0691	15.277	0.73445	746	0.52331	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	377.43	41	chr14	73106040	.	C	T	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=357;ExcessHet=0;FS=5.071;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.23;SOR=2.133	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,962	9	0	1	0
chr14	73252735	73252735	C	T	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon10:c.C1054T:p.R352W,PAPLN:NM_173462:exon10:c.C973T:p.R325W,PAPLN:NM_001365906:exon11:c.C1054T:p.R352W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.0784621205462	.	.	8.317e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs200690849	1.506e-05	1.505e-05	1.634e-05	1.376e-05	8.961e-05	9.86e-06	8.42e-06	2.374e-05	1.258e-05	8.961e-05	0	0	0	3.786e-05	0	1.439e-05	1.656e-05	0	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.541e-05	0	0	0	0	1.47e-05	0	0.0002	0.035	0.48642	D	0.015	0.61642	D	1.0	0.90584	D	0.96	0.70309	D	.	.	.	.	0.557202	0.32182	D	1.23	0.30720	L	0.11	0.61208	T	-5.1	0.83695	D	0.324	0.48963	-0.3622	0.73198	T	0.303	0.67427	T	9	0.5998429	0.66850	D	0.078462	0.73010	D	0.214	0.50650	0.509	0.60540	0.547470054201	0.54402	0.39874819368783704	0.39789	0.702846743555	0.61233	0.225454837084	0.01649	T	0.046981	0.27587	T	-0.120126	0.33102	T	-0.346683	0.39584	T	0.945491135120392	0.62275	D	0.708829	0.32694	T	0.15251881	0.34619	0.12459558	0.30031	0.15251881	0.34619	0.12459558	0.30030	-11.008	0.79702	D	.	.	0.117	0.25914	B	.;.;.;.	.;.;.;.	4.155271	0.62356	24.4	0.99887168544720395	0.96204	0.80794	0.40342	D	AEFDGBCI	0.662919	0.63262	D	0.218223145097393	0.52082	3.384784	0.0542721608351279	0.42278	2.554477	0.903140086268103	0.26144	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.22	2.1	0.26226	4.688000	0.61403	2.783000	0.34747	0.599000	0.40250	1.000000	0.71638	0.034000	0.21380	0.006000	0.07323	0.5444:0.3405:0.1152:0.0	7.999	0.29445	757	0.50970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2306.43	36	chr14	73252735	.	C	T	2306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=616;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.004;SOR=0.685	GT:AD:DP:GQ:PL	0/1:110,99:209:99:2318,0,2371	9	0	1	0
chr14	73264230	73264230	G	A	exonic	PAPLN	.	nonsynonymous SNV	PAPLN:NM_001365907:exon20:c.G2833A:p.G945R,PAPLN:NM_173462:exon20:c.G2800A:p.G934R,PAPLN:NM_001365906:exon21:c.G2881A:p.G961R	.	.	.	.	.	.	.	.	.	.	.	2754340	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.328	0.0644642279156	0.0002	.	0.0002	0.0002	0	0.0001	0.0003	0.0003	0	0	0.0001811	28	154602	rs374197764	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	2.237e-05	0	0.0002	0.0002	0.0005	0.0002	0.0002	0	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0003	0.0002	0.0004	0	0	0	0.0008	0.0002	0	0.0003	0.0005	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.883118	0.35792	D	2.625	0.76847	M	1.26	0.36330	T	-5.27	0.84175	D	0.502	0.53445	-0.5957	0.64992	T	0.204	0.56155	T	9	0.50378674	0.61700	D	0.064464	0.69284	D	0.328	0.65026	0.812	0.92788	0.409665357357	0.40584	0.5635705378412466	0.56284	0.621969221357	0.56478	0.395083904266	0.24383	T	0.049736	0.28393	T	-0.115582	0.33847	T	-0.106243	0.62910	T	0.77330082654953	0.44638	D	0.833317	0.50212	T	0.3324012	0.55666	0.39735535	0.64353	0.3324012	0.55666	0.39735535	0.64353	-8.999	0.68210	D	.	.	0.217	0.51271	B	.;.;.;.	.;.;.;.	4.913374	0.80858	27.4	0.99862202903316233	0.94093	0.74855	0.36629	D	AEFDGBCI	0.346498	0.44129	N	0.519204389792956	0.68226	5.188094	0.405691302898321	0.61919	4.398952	0.999999967667024	0.74766	0.718356	0.82227	0	0.694456	0.67091	0	0.570548	0.19454	0	0.592323	0.36904	0	.	.	4.32	4.32	0.50899	3.065000	0.49687	9.864000	0.82078	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.059000	0.15899	0.1418:0.0:0.8582:0.0	8.682	0.33375	747	0.52260	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1167.43	65	chr14	73264230	.	G	A	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=0.326;SOR=0.693	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr14	73491343	73491343	C	T	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.C326T:p.S109L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0009	0.0179	0	0	0	0.0022	0	0	0.0020892	323	154602	rs562155926	0.0008	0.0008	0.0008	0.0008	0.0045	0.0007	0.0007	0.0039	0.0036	0.0045	0.0028	9.317e-05	0	5.218e-05	0.0039	0.0007	0.0014	6.091e-05	0.0016	0.0016	0.0015	0.0017	0.0035	0.0014	0.0013	0.0028	0.0026	0.0032	0	0.0035	0	0	9.504e-05	0.0034	0.0006	0.0043	0.0002	.	.	.	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	0.003747791	0.00070	T	.	.	.	.	.	.	.	0.389439708392	0.38560	0.15953893530018226	0.15874	.	.	.	.	.	0.013756	0.11837	T	-0.323534	0.06612	T	-0.240561	0.50743	T	.	.	.	0.672333	0.28093	T	0.13165571	0.30681	0.268791	0.52752	0.13165571	0.30681	0.268791	0.52751	-3.246	0.13051	T	.	.	0.136	0.29505	B	.	.	3.349192	0.46190	22.3	0.98162205726733787	0.38781	0.26621	0.23045	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999992704	0.74766	0.075627	0.01787	0	0.090139	0.02499	0	0.04985	0.00251	1	0.088244	0.02422	0	0.407902	0.37815	3.77	2.89	0.32713	1.885000	0.39312	2.122000	0.30726	0.466000	0.21733	0.565000	0.27465	0.152000	0.23188	0.737000	0.35335	0.0:0.8803:0.0:0.1197	7.205	0.25078	306	0.87689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010369	0.063218	0.008532	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	449.43	43	chr14	73491343	.	C	T	449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=355;ExcessHet=0;FS=8.051;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.366;SOR=2.252	GT:AD:DP:GQ:PL	0/0:21,0:21:48:0,48,720	9	0	1	0
chr14	73491399	73491399	C	A	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.C382A:p.P128T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324517781	1.674e-06	6.86e-06	1.625e-06	1.726e-06	4.268e-05	2.8e-07	1e-07	.	.	4.268e-05	0	0	0	0	0	0	2.032e-05	0	0	6.569e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.017	0.60337	D	0.028	0.19712	B	0.004	0.10090	B	.	.	.	.	0.996497	0.22997	N	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	0.043203384	0.03145	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.257737620645623	0.25687	.	.	.	.	.	0.015875	0.13230	T	-0.345696	0.05003	T	-0.734345	0.04133	T	.	.	.	0.514049	0.16524	T	0.03857285	0.05163	0.07046	0.14972	0.03857285	0.05163	0.07046	0.14972	-3.018	0.10376	T	.	.	0.073	0.04558	B	.	.	1.359083	0.17679	13.30	0.5716900702589145	0.05710	0.10906	0.16274	N	ALL	.	.	.	.	.	.	.	.	.	0.999999999117997	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.088244	0.02422	0	0.134423	0.26205	1.97	1.97	0.25278	0.807000	0.26800	0.447000	0.18483	0.401000	0.20554	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	7.479	0.26562	306	0.87689	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	468.43	35	chr14	73491399	.	C	A	468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.732;DP=329;ExcessHet=0;FS=10.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.5;SOR=1.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:15:45:.:.:0,45,449:.	9	0	1	0
chr14	73491733	73491733	A	G	exonic	RIOX1	.	nonsynonymous SNV	RIOX1:NM_024644:exon1:c.A716G:p.Q239R	.	428	1042	50	2	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00179712	0.0057	0.0010	0.0094	0	0	0.0111	0.0068	0.0026	0.0023868	369	154602	rs45506292	0.0045	0.0044	0.0043	0.0046	0.0374	0.0044	0.0043	0.0333	0.0317	0.0016	0.0028	0.0035	5.558e-05	0.0003	0.0374	0.0049	0.0054	0.0021	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0053	0.0052	0.0010	0.0011	0.0031	0.0026	0	0.0004	0.0476	0.0058	0.0095	0.0025	.	.	.	0.518	0.10536	T	0.004	0.12183	B	0.021	0.19346	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.057	0.02861	.	.	.	.	.	.	.	0.004604161	0.00096	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5207341239320942	0.51996	.	.	.	.	.	0.006441	0.05872	T	-0.446726	0.01180	T	-0.410463	0.32173	T	.	.	.	0.664234	0.27311	T	0.2471527	0.47690	0.4145235	0.65593	0.2471527	0.47690	0.4145235	0.65593	-3.701	0.19333	T	.	.	0.064	0.01622	B	.	.	1.958293	0.24878	16.56	0.87932557959955016	0.17590	0.83000	0.42157	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999995253	0.74766	0.075627	0.01787	0	0.149826	0.03527	2	0.012449	0.00143	3	0.143876	0.04018	0	0.817998	0.48765	5.09	3.91	0.44383	1.642000	0.36823	1.028000	0.23458	0.658000	0.54486	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.7077:0.1503:0.1419:0.0	5.832	0.17840	306	0.87689	JmjC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.031218	0.010753	0.037190	0.040936	0.100000	0.026316	0.024691	0.022901	0.05	1232.43	85	chr14	73491733	.	A	G	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.598;DP=790;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.335;SOR=0.534	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	9	0	1	0
chr14	73514100	73514100	C	T	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon5:c.G1345A:p.E449K,HEATR4:NM_001220484:exon6:c.G1345A:p.E449K	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00524578738904	0.0002	0.000399361	0.0002	9.61e-05	0.0002	0	0	0.0002	0.0022	0.0005	0.0001876	29	154602	rs138823359	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0001	0.0046	0.0041	0	0.0003	0.0008	0	0	0.0062	0.0001	0.0005	0.0004	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	9.62e-05	0	0.0007	0.0012	0	0	0	0.0002	0.0014	0.0008	0.132	0.26519	T	0.061	0.45530	T	0.11	0.26188	B	0.024	0.20255	B	0.071082	0.21496	N	0.439598	1	0.08975	N	1.975	0.53506	M	1.82	0.25018	T	-0.87	0.23590	N	0.177	0.19055	-1.0369	0.18264	T	0.040	0.17020	T	10	0.023305357	0.00606	T	0.005246	0.13371	T	0.067	0.19503	.	.	0.0401082797425	0.02173	0.4912028566193218	0.49041	0.133712803413	0.15057	0.351421028376	0.18131	T	0.010591	0.09546	T	-0.472828	0.00816	T	-0.57423	0.15064	T	0.0199229771252514	0.00693	T	0.715328	0.32778	T	0.09643127	0.22714	0.076081425	0.16814	0.09643127	0.22714	0.076081425	0.16814	-2.658	0.06957	T	.	.	0.111	0.23077	B	.;.	.;.	1.238026	0.16335	12.47	0.97639163413217311	0.35068	0.06721	0.12742	N	AEFGI	0.061298	0.11708	N	-0.737560374931955	0.14973	0.7505426	-0.730327389583934	0.16207	0.8562703	0.106292926749588	0.16525	0.614807	0.35715	0	0.573888	0.26702	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.78	3.96	0.45097	0.462000	0.21667	1.783000	0.28733	0.599000	0.40250	0.000000	0.06391	0.613000	0.25778	0.002000	0.04165	0.1519:0.6894:0.0:0.1587	5.983	0.18650	277	0.89083	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.014620	0.050000	0.000000	0.000000	0.000000	0.05	1580.43	33	chr14	73514100	.	C	T	1580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.235;DP=443;ExcessHet=0;FS=5.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=-0.563;SOR=0.683	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1335	9	0	1	0
chr14	73573564	73573564	A	G	exonic	ACOT2	.	nonsynonymous SNV	ACOT2:NM_001364177:exon2:c.A229G:p.M77V,ACOT2:NM_001364178:exon2:c.A820G:p.M274V,ACOT2:NM_006821:exon2:c.A820G:p.M274V	.	.	.	.	.	.	.	.	.	.	.	3295686	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.134	0.00889256972353	.	0.000199681	4.942e-05	0	0.0003	0	0	2.997e-05	0	6.058e-05	4.53e-05	7	154602	rs202093592	4.858e-05	5.131e-05	4.493e-05	5.226e-05	0.0006	3.927e-05	3.605e-05	0.0004	0.0003	0	0.0006	0	0.0002	0	0.0002	2.788e-05	3.312e-05	5.798e-05	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0015	0.0013	4.814e-05	0	0.0020	0	0	0	0	4.416e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001126	0.40136	N	0.244803	1	0.08975	N	-2.635	0.00039	N	1.23	0.36872	T	2.18	0.00332	N	0.122	0.11483	-0.9596	0.39255	T	0.013	0.04843	T	10	0.014870882	0.00312	T	0.008893	0.23439	T	0.134	0.36365	.	.	0.0954503805726	0.09146	0.38493260992804	0.38408	.	.	0.491653352976	0.37667	T	0.00771	0.07099	T	-0.623017	0.00105	T	-0.761612	0.03055	T	0.0233941314534448	0.01070	T	0.116288	0.00889	T	0.041737285	0.06202	0.045729097	0.06218	0.041737285	0.06201	0.045729097	0.06217	0.841	0.00154	T	.	.	0.046	0.00120	B	.;.;.	.;.;.	-0.524563	0.01789	0.138	0.61986389903431283	0.06847	0.00773	0.03184	N	AEFDGBI	0.165213	0.29169	N	-1.39940739809923	0.02644	0.1170587	-1.14413103114583	0.06874	0.3323781	0.828537770990055	0.24651	0.706298	0.61202	0	0.658105	0.61773	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.27	3.33	0.37245	0.115000	0.15373	-5.256000	0.01787	-1.400000	0.01141	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.0811:0.0:0.7699:0.149	8.739	0.33706	234	0.90879	BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase C-terminal;BAAT/Acyl-CoA thioester hydrolase C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	3332.43	33	chr14	73573564	.	A	G	3332.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.347;DP=510;ExcessHet=0;FS=2.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.59;MQRankSum=-9.564;QD=17.09;ReadPosRankSum=0.449;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1143:.	9	0	1	0
chr14	73612782	73612782	A	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001365788:exon1:c.A211G:p.S71G	.	460	214	444	380	24	1228	0.737745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0083756	218	26028	rs12587206	0.0091	0.0085	0.0090	0.0092	0.0153	0.0089	0.0089	0.0122	0.0115	0.0013	0.0140	0.0183	0	0.0010	0.0153	0.0098	0.0088	0.0035	0.0078	0.0078	0.0079	0.0076	0.0164	0.0074	0.0073	0.0148	0.0141	0.0019	0.0110	0.0164	0.0161	0.0002	0.0006	0.0103	0.0111	0.0100	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008038133	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924308	0.72323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.	.	4.117408	0.61514	24.3	0.709540416775163	0.09466	0.63410	0.32081	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999872	0.74766	0.166803	0.03914	0	0.160126	0.03863	0	0.064036	0.01829	0	0.054758	0.00131	0	0.314155	0.35256	3.55	3.55	0.39770	1.853000	0.38998	5.725000	0.49491	0.680000	0.82399	0.955000	0.33325	1.000000	0.68203	0.491000	0.28814	0.7994:0.0:0.2005:0.0	6.141	0.19474	269	0.89438	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2673.91	31	chr14	73612782	.	A	G	2673.91	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.254;DP=293;ExcessHet=2.8549;FS=1.115;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=1.08;SOR=0.793	GT:AD:DP:GQ:PL	0/0:10,0:20:99:257,287,570	9	0	1	0
chr14	73713405	73713405	T	C	exonic	PNMA1	.	nonsynonymous SNV	PNMA1:NM_006029:exon1:c.A235G:p.R79G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00665737938702	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs757929953	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0002	2.9e-06	2.1e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	4.496e-06	0	3.478e-05	6.57e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.025	0.47320	D	0.058	0.46182	T	0.73	0.42641	P	0.467	0.46683	P	0.016486	0.27965	N	0.161453	0.682202	0.33245	D	1.545	0.39105	L	2.71	0.12055	T	-3.53	0.68532	D	0.668	0.67650	-1.0378	0.17985	T	0.036	0.15640	T	10	0.6473247	0.69401	D	0.006657	0.17585	T	0.158	0.41098	0.404	0.43573	0.280987212366	0.27714	0.34368446450767876	0.34282	0.414455218523	0.42127	0.709614574909	0.68538	T	0.110506	0.42525	T	-0.0331171	0.46962	T	-0.103819	0.63100	T	0.67763489484787	0.39681	D	0.767423	0.39577	T	0.29310188	0.52279	0.22056599	0.46837	0.29310188	0.52279	0.22056599	0.46836	-5.511	0.41971	T	.	.	0.156	0.34536	B	.	.	3.020584	0.40428	21.2	0.99750575950391096	0.84228	0.25832	0.22816	N	AEFDGBHCI	0.237886	0.36010	N	-0.000893265236178553	0.41815	2.507927	-0.0192564522351309	0.38846	2.294538	0.999989491104894	0.51787	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.97	1.42	0.21524	0.534000	0.22807	0.922000	0.22712	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.4188:0.5812	7.949	0.29163	416	0.81733	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1438.43	33	chr14	73713405	.	T	C	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.155;DP=480;ExcessHet=0;FS=0.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=0.92;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	9	0	1	0
chr14	73922107	73922107	G	A	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon9:c.G952A:p.V318I,ZNF410:NM_001242928:exon10:c.G583A:p.V195I,ZNF410:NM_021188:exon10:c.G1171A:p.V391I,ZNF410:NM_001242924:exon11:c.G1222A:p.V408I	.	437	1073	12	0	0	12	0.0055607	.	.	.	2372504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00624117687877	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs372664039	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0	0.0001	0	0	0	0.0035	0.0001	0.0004	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0009	0.0008	0.118	0.91255	T	0.306	0.92824	T	0.643	0.40492	P	0.785	0.57495	P	0.001442	0.38980	N	0.000000	0.546559	0.81001	D	1.01	0.25309	L	3.02	0.09356	T	-0.4	0.25118	N	0.538	0.56576	-1.0215	0.23227	T	0.040	0.17063	T	10	0.03307873	0.01474	T	0.006241	0.16376	T	0.136	0.36778	.	.	0.15499578495	0.15088	0.142841941602386	0.14207	0.800589739096	0.66227	0.560118496418	0.47284	T	0.026612	0.19659	T	-0.407052	0.02080	T	-0.40303	0.33033	T	0.088879943355341	0.11084	T	0.89921	0.67274	D	0.055328384	0.10739	0.0646716	0.12995	0.055328384	0.10738	0.0646716	0.12995	-4.042	0.26185	T	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.136392	0.42404	21.5	0.952429301120164	0.26489	0.89806	0.50512	D	AEFBI	0.495532	0.53086	N	0.436454677190312	0.63439	4.577605	0.514922159546573	0.68994	5.297341	0.999996727823021	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.579000	0.60647	10.022000	0.83139	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.901	0.85982	359	0.84979	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	817.43	35	chr14	73922107	.	G	A	817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.436;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1202	9	0	1	0
chr14	74356998	74356998	G	A	exonic	VRTN	.	nonsynonymous SNV	VRTN:NM_018228:exon2:c.G215A:p.R72Q	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00777356287819	0.0015	0.00139776	0.0022	0.0004	0.0029	0	0.0015	0.0022	0.0022	0.0043	0.0021216	328	154602	rs45593432	0.0024	0.0024	0.0023	0.0024	0.0110	0.0023	0.0023	0.0088	0.0080	0.0004	0.0023	0.0017	0	0.0011	0.0110	0.0025	0.0022	0.0037	0.0020	0.0020	0.0018	0.0022	0.0037	0.0018	0.0018	0.0024	0.0023	0.0006	0	0.0031	0.0026	0	0.0010	0.0034	0.0027	0.0038	0.0037	0.139	0.25768	T	0.171	0.30339	T	0.033	0.20350	B	0.003	0.08700	B	0.222855	0.16098	N	0.565703	1	0.08975	N	0.345	0.11182	N	0.93	0.44065	T	-1.66	0.39692	N	0.081	0.05670	-1.0490	0.14677	T	0.042	0.17910	T	10	0.006282538	0.00142	T	0.007774	0.20616	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.4145049700076509	0.41366	0.508805914632	0.49028	0.281761646271	0.07739	T	0.030668	0.21687	T	-0.558419	0.00259	T	-0.57464	0.15027	T	0.00794116350985431	0.00094	T	0.778122	0.45098	T	0.07385919	0.16535	0.04743518	0.06833	0.07385919	0.16535	0.04743518	0.06833	-4.319	0.28442	T	.	.	0.068	0.02639	B	.;.	.;.	1.297111	0.16988	12.89	0.99395072349976021	0.62519	0.17632	0.19921	N	AEFDBCI	0.119875	0.23378	N	-0.649216657548677	0.17483	0.9000355	-0.551358041754906	0.20770	1.120566	0.974554831129864	0.29553	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.542086	0.14980	0	.	.	4.91	1.82	0.24209	0.452000	0.21508	0.449000	0.18503	0.676000	0.76740	0.115000	0.23085	0.005000	0.19230	0.511000	0.29267	0.2597:0.0:0.7403:0.0	9.583	0.38662	269	0.89438	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005040	0.000000	0.004076	0.005848	0.000000	0.000000	0.006098	0.007576	0.05	1119.43	37	chr14	74356998	.	G	A	1119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.99;DP=427;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.228;SOR=0.812	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1205	9	0	1	0
chr14	74486431	74486431	C	T	exonic	NPC2	.	nonsynonymous SNV	NPC2:NM_001363688:exon2:c.G88A:p.V30M,NPC2:NM_001375440:exon2:c.G88A:p.V30M,NPC2:NM_006432:exon2:c.G88A:p.V30M	Niemann-pick disease, type C2, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	181440	Brain_atrophy|Seizure|Global_developmental_delay|Microcephaly|not_specified|Niemann-Pick_disease,_type_C2|not_provided	Human_Phenotype_Ontology:HP:0012444,MedGen:C4551584|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:CN169374|MONDO:MONDO:0011873,MedGen:C1843366,OMIM:607625,Orphanet:646|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.490	0.107051375347	0.0019	0.000998403	0.0031	0.0004	0.0019	0	0	0.0040	0.0078	0.0042	0.0014101	218	154602	rs151220873	0.0014	0.0014	0.0012	0.0016	0.0124	0.0013	0.0013	0.0101	0.0092	0.0005	0.0010	0.0189	0	0	0.0124	0.0007	0.0029	0.0049	0.0013	0.0013	0.0013	0.0013	0.0050	0.0012	0.0011	0.0034	0.0029	0.0003	0	0.0009	0.0193	0.0002	0	0.0136	0.0012	0.0014	0.0050	0.111	0.32929	T	0.112	0.37589	T	0.921	0.51088	P	0.667	0.53020	P	0.001644	0.00810	N	3.062020	1	0.08975	N	1.32	0.33002	L	-0.92	0.75108	T	-0.34	0.15178	N	0.694	0.69913	-0.5348	0.67360	T	0.323	0.69186	T	10	0.0055167973	0.00122	T	0.107051	0.78294	D	0.490	0.77720	.	.	0.419957187557	0.41612	0.4148785368595371	0.41403	1.05498303167	0.76294	0.248564392328	0.03618	T	0.164713	0.70663	T	-0.280629	0.10601	T	-0.17534	0.56954	T	0.0604724534897135	0.07243	T	0.768523	0.39806	T	0.15376896	0.34838	0.120965846	0.29188	0.15767485	0.35515	0.072921336	0.15786	-5.909	0.45512	T	0.34427084161464777	0.44184	0.123	0.35705	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.142092	0.15295	11.74	0.98776408867178389	0.46049	0.02808	0.07534	N	AEFGBI	0.158835	0.28454	N	-0.980824699310848	0.09013	0.4248764	-1.20699484781859	0.05797	0.2772181	0.999999670044353	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.54	-7.82	0.01069	-1.967000	0.01598	-3.068000	0.03090	-0.912000	0.02253	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0857:0.1184:0.3405:0.4555	4.464	0.11100	368	0.84463	MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;.;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain;MD-2-related lipid-recognition domain|MD-2-related lipid-recognition domain|Npc2 like, ML domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009635	0.005208	0.008152	0.005848	0.000000	0.017241	0.015432	0.003788	0.05	1149.43	34	chr14	74486431	.	C	T	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.703;DP=389;ExcessHet=0;FS=4.491;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=2.62;SOR=1.255	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	9	0	1	0
chr14	74502767	74502767	C	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon34:c.G5056A:p.V1686I	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	872579	not_provided|Weill-Marchesani_syndrome|not_specified|Glaucoma_3,_primary_congenital,_D	MedGen:C3661900|MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MedGen:CN169374|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.162	0.0255913001877	0.0002	0.000199681	0.0002	9.619e-05	0	0	0	0.0003	0.0011	0.0001	0.0001552	24	154602	rs139734678	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0008	0.0006	5.974e-05	0.0001	0	0	1.872e-05	0.0016	0.0001	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	7.573e-05	6.279e-05	8.87e-05	5.281e-05	4.813e-05	0	0.0003	0	0	9.422e-05	0	0.0001	0.0009	0	0.592	0.06049	T	0.469	0.12281	T	0.002	0.09854	B	0.001	0.04355	B	0.519356	0.05193	N	1.408090	1	0.08975	N	-0.56	0.02328	N	-1.11	0.77593	T	-0.27	0.11366	N	0.034	0.00942	-0.9422	0.42266	T	0.201	0.55723	T	10	0.028542966	0.00985	T	0.025591	0.48551	D	0.162	0.41843	.	.	0.326881540566	0.32305	0.14446743319733152	0.14369	0.109344260133	0.12337	0.275766193867	0.06909	T	0.109626	0.42365	T	-0.485884	0.00685	T	-0.631168	0.10327	T	0.00912657298170966	0.00115	T	0.637636	0.25136	T	0.02465721	0.01319	0.026259093	0.00706	0.02465721	0.01319	0.026259093	0.00706	-4.227	0.27141	T	.	.	0.065	0.01934	B	.;.	.;.	-0.646778	0.01448	0.088	0.87912071696506044	0.17575	0.03163	0.08134	N	AEFGBCI	0.030078	0.02961	N	-1.30710650400805	0.03593	0.1607856	-1.28596354244688	0.04619	0.2183242	0.997223064420871	0.35393	0.67177	0.52595	0	0.59043	0.45803	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.9	-0.0163	0.13297	-0.570000	0.05986	-3.610000	0.02659	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0:0.3176:0.0:0.6824	9.286	0.36918	286	0.88678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1514.43	40	chr14	74502767	.	C	T	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.242;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1305	9	0	1	0
chr14	74508039	74508039	C	T	exonic	LTBP2	.	nonsynonymous SNV	LTBP2:NM_000428:exon25:c.G3709A:p.E1237K	Glaucoma 3, primary congenital, D;Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, Autosomal recessive;Weill-Marchesani syndrome 3, recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	872591	Weill-Marchesani_syndrome|Inborn_genetic_diseases|not_provided|Glaucoma_3,_primary_congenital,_D	MONDO:MONDO:0018096,MedGen:C0265313,OMIM:PS277600,Orphanet:3449|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0013122,MedGen:C2751316,OMIM:613086,Orphanet:98976	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.475	0.0744098239558	.	.	3.321e-05	9.728e-05	0	0	0	3.022e-05	0	6.085e-05	2.59e-05	4	154602	rs769155905	3.695e-05	3.762e-05	4.357e-05	3.026e-05	0.0002	2.894e-05	2.593e-05	2.828e-05	2.507e-05	0	0	0.0003	0	0	0.0002	3.777e-05	3.312e-05	2.319e-05	4.598e-05	4.596e-05	6.422e-05	2.689e-05	7.235e-05	2.109e-05	1.526e-05	1.972e-05	1.124e-05	7.235e-05	0	0	0	0	0	0	5.879e-05	0	0	0.046	0.40573	D	0.107	0.40426	T	0.989	0.62824	D	0.717	0.54739	P	0.015425	0.28249	N	0.164615	0.991679	0.41446	D	1.2	0.30300	L	-2.95	0.91903	D	-2.13	0.53258	N	0.442	0.48042	0.214	0.86147	D	0.687	0.89195	D	10	0.35173243	0.52017	T	0.07441	0.72034	D	0.475	0.76751	0.583	0.70990	0.822846821746	0.82117	0.4565086907759105	0.45568	0.457133581245	0.45357	0.500999808311	0.38968	T	0.456103	0.79500	T	-0.0637027	0.42327	T	-0.126627	0.61254	T	0.528910338878632	0.33694	D	0.929907	0.74113	D	0.18138279	0.39305	0.17138846	0.39317	0.18138279	0.39305	0.17138846	0.39317	-10.081	0.74395	D	.	.	0.085	0.10208	B	.;.	.;.	5.030268	0.83658	28.1	0.9991508308786764	0.98309	0.97123	0.72824	D	AEFDGBIJ	0.575440	0.57783	D	0.181302807755818	0.50301	3.22148	0.205805526192405	0.50170	3.211842	0.999999932479654	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.527494	0.11647	0	0.711	0.71501	0	.	.	5.41	4.52	0.54797	4.696000	0.61460	5.852000	0.50347	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.805000	0.37950	0.0:0.9289:0.0:0.0711	14.219	0.65353	259	0.89842	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	825.43	36	chr14	74508039	.	C	T	825.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.431;DP=401;ExcessHet=0;FS=0.822;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.803;SOR=0.584	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr14	74798881	74798881	A	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon5:c.A3584G:p.H1195R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0137560213627	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201214331	1.368e-05	1.368e-05	1.634e-05	1.1e-05	0.0002	8.94e-06	7.26e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.123	0.35582	T	.	.	.	.	.	.	0.000002	0.62929	D	0.000000	0.996016	0.81001	D	.	.	.	.	.	.	-2.26	0.50502	N	0.515	0.54584	-0.2427	0.76556	T	0.385	0.74039	T	9	0.31650186	0.49070	T	0.013756	0.33405	T	0.148	0.39182	0.169	0.07419	0.110392049598	0.10638	0.2864389490243952	0.28556	0.327290207429	0.34864	0.686651468277	0.65224	T	.	.	.	0.0352592	0.56420	T	-0.187129	0.55859	T	0.708846488908455	0.41144	D	0.719828	0.33277	T	0.45201182	0.64168	0.56266046	0.74692	0.45201182	0.64169	0.56266046	0.74693	-0.514	0.00592	T	.	.	0.194	0.41495	B	.	.	3.118582	0.42097	21.5	0.97870959443564765	0.36533	0.98907	0.88457	D	AEFBI	0.664038	0.63335	D	0.699300357671686	0.79585	7.109115	0.698403476592816	0.82256	7.72257	0.999999997779395	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	6.777000	0.74822	9.229000	0.79345	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	15.883	0.78998	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2601.43	195	chr14	74798881	.	A	G	2601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.405;DP=514;ExcessHet=0;FS=1.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=0.968;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,998	9	0	1	0
chr14	74809473	74809473	G	C	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.G4615C:p.V1539L	.	431	1049	41	1	0	43	0.0200841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0042	0.00219649	0.0062	0.0016	0.0046	0	0.0046	0.0079	0.0114	0.0065	0.0041655	644	154602	rs139645102	0.0054	0.0054	0.0055	0.0054	0.0247	0.0053	0.0053	0.0214	0.0202	0.0014	0.0039	0.0040	2.578e-05	0.0044	0.0247	0.0058	0.0056	0.0055	0.0039	0.0039	0.0041	0.0037	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0030	0.0066	0.0002	0.0034	0.0170	0.0059	0.0066	0.0056	0.369	0.11586	T	0.685	0.13634	T	.	.	.	.	.	.	0.428077	0.12784	N	0.712848	0.999986	0.21372	N	.	.	.	.	.	.	0.12	0.05917	N	0.202	0.22357	-0.9815	0.34655	T	0.018	0.07706	T	9	0.0050153434	0.00108	T	.	.	.	0.099	0.28413	0.246	0.18139	0.043077524339	0.03247	0.3544232962056145	0.35356	0.114460003441	0.12903	0.421121537685	0.27990	T	0.002439	0.01836	T	-0.629407	0.00096	T	-0.670337	0.07586	T	0.0014493992208708	0.00015	T	0.756024	0.37907	T	0.08233242	0.18962	0.07522694	0.16541	0.08233242	0.18961	0.07522694	0.16541	-2.789	0.08082	T	.	.	0.099	0.22282	B	.;.	.;.	1.066790	0.14488	11.06	0.90336484123853977	0.19601	0.67940	0.33616	D	AEFGBI	0.145081	0.26821	N	-0.930382740093858	0.10136	0.4829762	-0.779091164806651	0.15007	0.787145	0.418820137012474	0.20274	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.3	0.04692	-0.159000	0.10043	0.795000	0.21604	0.618000	0.50648	0.781000	0.29485	0.996000	0.32793	0.997000	0.79791	0.5994:0.2743:0.1263:0.0	6.547	0.21609	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.020202	0.017663	0.038012	0.000000	0.086207	0.009146	0.007576	0.05	1540.43	38	chr14	74809473	.	G	C	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.239;DP=454;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.25;SOR=0.762	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr14	74904932	74904932	G	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370257:exon8:c.C812A:p.T271N,RPS6KL1:NM_001370258:exon8:c.C722A:p.T241N,RPS6KL1:NM_001370252:exon11:c.C1607A:p.T536N,RPS6KL1:NM_001370255:exon11:c.C1012A:p.L338M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs189688925	0	6.521e-05	0	0	.	0	0	.	.	.	.	.	0	0	.	0	0	.	0.0013	0.0013	0.0013	0.0012	0.0056	0.0011	0.0011	0.0039	0.0034	0.0002	0.0022	0.0008	0.0084	0.0002	0	0	0.0015	0.0024	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	40.98	.	chr14	74904932	.	G	T	40.98	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=20.49;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	1	0	6
chr14	75004839	75004839	A	G	exonic	EIF2B2	.	nonsynonymous SNV	EIF2B2:NM_014239:exon4:c.A536G:p.K179R	Leukoencephalopathy with vanishing white matter, Autosomal recessive;Ovarioleukodystrophy, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.0374017999425	.	.	1.664e-05	0	0	0	0	0	0.0011	6.079e-05	1.29e-05	2	154602	rs757027574	1.437e-05	1.437e-05	1.225e-05	1.651e-05	0.0002	9.23e-06	7.84e-06	8.52e-06	6.89e-06	0	2.236e-05	0	0	0	0.0002	1.439e-05	1.656e-05	2.319e-05	6.597e-06	6.569e-06	1.289e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.255	0.16848	T	0.249	0.23776	T	0.002	0.09854	B	0.032	0.22131	B	0.001247	0.39669	N	0.327366	0.920044	0.36650	D	1.615	0.41426	L	-3.72	0.95422	D	-2.15	0.48687	N	0.08	0.05542	-0.6517	0.62640	T	0.611	0.86241	D	10	0.2274476	0.39625	T	0.037402	0.57597	D	0.228	0.52768	0.458	0.52427	0.891472136315	0.89040	0.6239664528787012	0.62329	0.373390277131	0.38803	0.344283461571	0.17077	T	0.562315	0.85369	D	-0.0471568	0.44877	T	-0.204884	0.54183	T	0.111468128859997	0.13575	T	0.740726	0.35986	T	0.14253852	0.32799	0.17232497	0.39479	0.14253852	0.32798	0.17232497	0.39478	-5.279	0.39734	T	0.2300625313767266	0.31125	0.083	0.09288	B	.	.	1.227394	0.16217	12.40	0.90822256308384464	0.20071	0.82814	0.41992	D	AEFBI	0.235228	0.35786	N	-1.17840075786356	0.05327	0.2425872	-1.19132156321098	0.06054	0.290261	0.999999991913733	0.74766	0.706298	0.61202	0	0.581341	0.33841	0	0.709663	0.75317	0	0.638787	0.57140	0	.	.	5.52	-8.17	0.00930	1.315000	0.33214	-0.498000	0.08819	-0.054000	0.16847	1.000000	0.71638	0.000000	0.08366	0.973000	0.55318	0.4397:0.0:0.4648:0.0954	10.083	0.41576	582	0.69555	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1172.43	39	chr14	75004839	.	A	G	1172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.959;DP=437;ExcessHet=0;FS=1.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.9;SOR=0.876	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1356	9	0	1	0
chr14	75017201	75017201	-	CTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	exonic	MLH3	.	stopgain	MLH3:NM_014381:exon12:c.4170_4171insTCATATTGCTAATTGAAGTTATTCTTTCTTCCCATAG:p.I1391Sfs*4,MLH3:NM_001040108:exon13:c.4242_4243insTCATATTGCTAATTGAAGTTATTCTTTCTTCCCATAG:p.I1415Sfs*4	Colorectal cancer, hereditary nonpolyposis, type 7;Colorectal cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	241876	Colorectal_cancer,_hereditary_nonpolyposis,_type_7|not_specified	MONDO:MONDO:0013725,MedGen:C1858380,OMIM:614385,Orphanet:144|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0016	0.0174	0.0007	0	0	1.499e-05	0	0	0.0002305	6	26028	rs56393982	0.0005	0.0005	0.0005	0.0004	0.0165	0.0004	0.0004	0.0154	0.0149	0.0165	0.0010	0	0	0	0.0005	7.196e-06	0.0012	4.638e-05	0.0056	0.0059	0.0060	0.0052	0.0198	0.0053	0.0052	0.0187	0.0182	0.0198	0	0.0016	0	0	0	0	4.41e-05	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	283.39	33	chr14	75017201	.	T	TCTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	283.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.109;DP=376;ExcessHet=0;FS=6.16;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=-1.933;SOR=2.636	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr14	75070632	75070632	A	T	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.A59T:p.N20I,ZC2HC1C:NM_001330191:exon2:c.A59T:p.N20I,ZC2HC1C:NM_024643:exon2:c.A59T:p.N20I	.	433	1071	18	0	0	18	0.00833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.046831026454	8.1e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs201007492	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.813e-05	0	0	0.0006	0	0	0	5.88e-05	0	0.0050	0.001	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.939	0.67449	D	0.006301	0.32122	N	0.141524	0.523725	0.31548	N	2.175	0.60977	M	0.58	0.54149	T	-7.55	0.95188	D	0.742	0.77789	-0.2784	0.75584	T	0.289	0.66055	T	10	0.006190151	0.00139	T	0.046831	0.62643	D	0.228	0.52768	.	.	0.487348339145	0.48367	0.22904105704477512	0.22819	0.588004060284	0.54360	0.515668153763	0.41017	T	0.006414	0.05843	T	-0.289295	0.09707	T	-0.188062	0.55772	T	0.216257175862433	0.21276	T	0.763424	0.38984	T	0.32686386	0.55213	0.34871656	0.60507	0.32686386	0.55213	0.34871656	0.60507	-3.538	0.16968	T	.	.	0.288	0.52010	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.203451	0.43573	21.8	0.98696521515898128	0.44838	0.86992	0.46402	D	ALL	0.392574	0.47057	N	0.411941661535108	0.62076	4.417961	0.322720731381291	0.56878	3.851863	0.99999999999863	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	3.031000	0.49417	5.045000	0.46946	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.179000	0.21265	1.0:0.0:0.0:0.0	10.559	0.44325	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	925.43	33	chr14	75070632	.	A	T	925.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.188;DP=405;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.038;SOR=0.603	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	9	0	1	0
chr14	75070643	75070643	G	C	exonic	ZC2HC1C	.	nonsynonymous SNV	ZC2HC1C:NM_001042430:exon2:c.G70C:p.A24P,ZC2HC1C:NM_001330191:exon2:c.G70C:p.A24P,ZC2HC1C:NM_024643:exon2:c.G70C:p.A24P	.	434	1070	18	0	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0148684438122	8.2e-05	0.00119808	0.0008	0	0	0	0	0.0002	0	0.0049	0.0006792	105	154602	rs202071124	0.0004	0.0004	0.0003	0.0006	0.0049	0.0004	0.0004	0.0045	0.0044	0	0	0.0006	0	0	0.0035	0.0001	0.0004	0.0049	0.0002	0.0002	8.994e-05	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	4.812e-05	0	0	0.0006	0	0	0	5.881e-05	0	0.0050	0.009	0.65419	D	0.04	0.57587	D	0.989	0.62824	D	0.893	0.63340	P	0.067454	0.21740	N	0.329934	0.999999	0.08975	N	2.045	0.56016	M	0.41	0.57100	T	-4.28	0.76334	D	0.477	0.57690	-0.9072	0.47191	T	0.207	0.56608	T	10	0.0027681887	0.00043	T	0.014868	0.35264	T	0.128	0.35103	.	.	0.40318662893	0.39936	0.33644218108618373	0.33557	0.559607918602	0.52497	0.327027440071	0.14486	T	0.003707	0.03111	T	-0.384259	0.02928	T	-0.324471	0.42083	T	0.127540001385723	0.15153	T	0.754325	0.37688	T	0.17973155	0.39059	0.17038666	0.39144	0.17973155	0.39059	0.17038666	0.39143	-3.372	0.15070	T	.	.	0.199	0.42170	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.758541	0.36180	20.2	0.99565120680330121	0.72014	0.14751	0.18567	N	ALL	0.186874	0.31418	N	-0.0815084460523322	0.38204	2.233989	-0.251146011460682	0.29731	1.668147	0.999999999305585	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.567892	0.33627	0	.	.	4.72	0.588	0.16630	0.082000	0.14697	1.568000	0.27399	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.879000	0.42020	0.3365:0.0:0.5184:0.145	4.563	0.11567	479	0.77495	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	947.43	33	chr14	75070643	.	G	C	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=413;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=-0.403;SOR=0.596	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	9	0	1	0
chr14	75071555	75071555	-	G	exonic	ZC2HC1C	.	frameshift insertion	ZC2HC1C:NM_001330191:exon2:c.983dupG:p.E329Gfs*8,ZC2HC1C:NM_024643:exon2:c.983dupG:p.E329Gfs*8	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.000998403	0.0024	0.0006	0.0020	0	0.0003	0.0038	0.0033	0.0005	0.0004226	11	26028	rs528262343	0.0040	0.0040	0.0041	0.0038	0.0090	0.0039	0.0039	0.0071	0.0064	0.0008	0.0023	0.0016	0	0.0002	0.0090	0.0047	0.0046	0.0007	0.0028	0.0028	0.0029	0.0028	0.0045	0.0026	0.0025	0.0041	0.0040	0.0010	0.0373	0.0017	0.0023	0.0002	0	0.0068	0.0045	0.0043	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004028	0.005051	0.004076	0.014620	0.000000	0.008621	0.000000	0.000000	0.05	1364.39	33	chr14	75071555	.	A	AG	1364.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.25;DP=450;ExcessHet=0;FS=0.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.527;SOR=0.573	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019289	0.000000	0.020380	0.041176	0.000000	0.025862	0.009259	0.011364	0.1	1324.14	20	chr14	75437912	.	C	A	1324.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.025;DP=267;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=23.23;ReadPosRankSum=-0.279;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:20,0:20:60:.:.:0,60,669:.	8	0	2	0
chr14	75639372	75639372	A	C	exonic	FLVCR2	.	nonsynonymous SNV	FLVCR2:NM_001195283:exon6:c.A530C:p.Y177S,FLVCR2:NM_017791:exon6:c.A1145C:p.Y382S	Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	0.0655320461835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	2.724e-06	1.376e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	0.925	0.51395	P	0.9	0.63913	P	0.000005	0.62929	D	0.110709	1	0.81001	D	3.02	0.86243	M	0.44	0.57880	T	-8.78	0.97928	D	0.879	0.87699	-0.0579	0.81038	T	0.431	0.77264	T	10	0.9042178	0.89786	D	0.065532	0.69607	D	0.614	0.84932	0.655	0.79276	0.838536903187	0.83699	0.8548733749249788	0.85450	1.13111999283	0.78618	0.686235845089	0.65164	T	0.377304	0.74052	T	0.349929	0.86500	D	0.264872	0.86322	D	0.998711109161377	0.94946	D	0.878912	0.59457	D	0.94599545	0.95857	0.9309133	0.97157	0.94599545	0.95858	0.9309133	0.97157	-13.828	0.92774	D	0.5344691900789156	0.60491	0.274	0.61041	B	.;.;.;.;.	.;.;.;.;.	4.600372	0.72850	25.9	0.9925862555602567	0.57121	0.98524	0.83701	D	AEFGBI	0.885466	0.81601	D	0.876122573370192	0.90542	10.45132	0.812907184461558	0.90677	10.51693	0.999999999999831	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	5.7	5.7	0.88690	9.197000	0.94121	9.157000	0.78973	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.758000	0.36073	1.0:0.0:0.0:0.0	14.939	0.70626	182	0.92924	Major facilitator superfamily domain|Major facilitator superfamily domain;.;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1316.43	35	chr14	75639372	.	A	C	1316.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.23;DP=477;ExcessHet=0;FS=2.146;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=1.9;SOR=0.931	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	9	0	1	0
chr14	75764730	75764730	C	G	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon19:c.C1666G:p.R556G	Cone-rod dystrophy 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	841794	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0348284695871	.	.	8.248e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs770811029	1.847e-05	1.847e-05	6.807e-06	3.025e-05	0.0003	1.265e-05	1.084e-05	7.997e-05	6.236e-05	0	0	0	0	0	0.0003	1.169e-05	0	0.0001	2.628e-05	2.627e-05	3.854e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.001	0.78490	D	0.026	0.63918	D	0.834	0.60733	P	0.438	0.60758	B	0.473440	0.12250	N	0.754917	1	0.81001	D	1.65	0.42232	L	3.58	0.32958	T	-2.53	0.60348	D	0.539	0.58713	-0.9837	0.34140	T	0.127	0.43318	T	10	0.29858518	0.47414	T	0.034828	0.55938	D	0.106	0.30130	0.328	0.31196	0.171388866994	0.16791	0.25798782657078684	0.25712	0.352308218396	0.37068	0.542880892754	0.44852	T	0.203749	0.56231	T	-0.249213	0.14195	T	-0.321454	0.42415	T	0.409095863189939	0.29284	T	0.889111	0.64631	D	0.25382072	0.48407	0.39753157	0.64365	0.25382072	0.48406	0.39753157	0.64365	-2.594	0.45110	T	0.23661305429944016	0.32040	0.381	0.58464	A	.;.;.;.	.;.;.;.	3.721703	0.53189	23.3	0.99825766202352806	0.90852	0.80901	0.40423	D	AEFDGBI	0.241742	0.36331	N	0.27821648190313	0.55046	3.668994	0.286711539582891	0.54763	3.640351	0.0289744459540654	0.13861	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.29	3.22	0.36041	1.695000	0.37381	3.458000	0.38494	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2891:0.7109:0.0:0.0	13.854	0.63013	840	0.37365	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	700.43	33	chr14	75764730	.	C	G	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=395;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=1.78;SOR=0.57	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1248	9	0	1	0
chr14	75766127	75766127	G	A	exonic	TTLL5	.	nonsynonymous SNV	TTLL5:NM_015072:exon20:c.G1774A:p.A592T	Cone-rod dystrophy 19, Autosomal recessive	418	1102	2	0	0	2	0.000906618	.	.	.	714247	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.063	.	0.0099	0.0101837	0.0031	0.0335	0.0015	0.0001	0	0.0001	0	0.0001	0.0029819	461	154602	rs11848004	0.0009	0.0009	0.0011	0.0008	0.0305	0.0009	0.0009	0.0289	0.0283	0.0305	0.0017	0	0.0008	0	0.0026	7.374e-05	0.0023	0.0002	0.0087	0.0087	0.0092	0.0081	0.0295	0.0083	0.0082	0.0282	0.0276	0.0295	0	0.0041	0	0.0002	0	0.0034	0.0002	0.0071	0.0004	0.048	0.40068	D	0.359	0.54934	T	0.003	0.17573	B	0.003	0.10090	B	0.783132	0.06666	N	1.101670	1	0.08975	N	0.345	0.11182	N	3.98	0.24285	T	-0.21	0.10308	N	0.161	0.16864	-0.9968	0.30810	T	0.009	0.03054	T	10	0.00203681	0.00029	T	.	.	.	0.063	0.18251	.	.	0.0401082797425	0.02173	0.33005609796141044	0.32918	0.0849823423278	0.09603	0.339076906443	0.16300	T	0.021317	0.16623	T	-0.607264	0.00132	T	-0.621384	0.11078	T	0.00303966947376642	0.00032	T	0.712529	0.32820	T	0.040848687	0.05909	0.04467737	0.05841	0.041153744	0.06007	0.046693716	0.06566	-3.346	0.15587	T	0.10699810034594848	0.08661	0.075	0.05447	B	.;.;.;.	.;.;.;.	2.139203	0.27237	17.39	0.92679610995283634	0.22164	0.10883	0.16259	N	AEFGBI	0.032184	0.03586	N	-1.04107915089277	0.07763	0.3617572	-1.00751978641718	0.09619	0.4796072	0.0070074684726847	0.11362	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	-0.337	0.12027	0.450000	0.21475	1.351000	0.25808	-0.130000	0.13190	0.000000	0.06391	0.001000	0.17328	0.992000	0.67800	0.2759:0.1524:0.2922:0.2795	0.238	0.00175	840	0.37365	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009063	0.005051	0.023098	0.005848	0.000000	0.017241	0.003049	0.000000	0.05	802.43	83	chr14	75766127	.	G	A	802.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.451;DP=500;ExcessHet=0;FS=1.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.767;SOR=0.82	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr14	75980812	75980812	T	G	exonic	TGFB3	.	nonsynonymous SNV	TGFB3:NM_001329938:exon1:c.A82C:p.T28P,TGFB3:NM_003239:exon1:c.A82C:p.T28P,TGFB3:NM_001329939:exon2:c.A82C:p.T28P	Arrhythmogenic right ventricular dysplasia 1, Autosomal dominant;Loeys-Dietz syndrome 5, Autosomal dominant	0	1515	6	1	0	8	0.00263331	.	.	.	241896	Arrhythmogenic_right_ventricular_dysplasia_1|Rienhoff_syndrome|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007152,MedGen:C1862511,OMIM:107970,Orphanet:3403|MONDO:MONDO:0014262,MedGen:C3810012,OMIM:615582|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.427	0.057687750084	.	0.000199681	0.0001	0	0	0	0.0002	4.495e-05	0	0.0006	9.7e-05	15	154602	rs564013964	4.309e-05	4.309e-05	2.722e-05	5.913e-05	0.0014	3.442e-05	3.129e-05	0.0007	0.0005	0	0	0	5.038e-05	1.872e-05	0.0014	8.093e-06	0.0001	0.0004	2.631e-05	2.626e-05	1.286e-05	4.037e-05	0.0002	8.15e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0	1.471e-05	0.0005	0.0002	0.048	0.47745	D	0.054	0.47097	T	0.978	0.58756	D	0.828	0.59497	P	0.000000	0.84330	D	0.000000	0.999829	0.49512	D	1.735	0.44892	L	-0.14	0.65006	T	-1.27	0.35792	N	0.204	0.28732	-0.4447	0.70575	T	0.317	0.68637	T	10	0.16817605	0.31354	T	0.057688	0.67052	D	0.427	0.73445	.	.	0.819186829257	0.81748	0.4155835036557827	0.41474	1.66393245162	0.89724	0.576532065868	0.49596	T	0.442459	0.78661	T	0.0123334	0.53343	T	0.101906	0.77034	D	0.241325313962933	0.22480	T	0.519248	0.29288	T	0.5239688	0.68486	0.58034986	0.75677	0.5239688	0.68487	0.58034986	0.75678	-5.74	0.44048	T	.	.	0.162	0.35746	B	.;.	.;.	3.408959	0.47284	22.4	0.99011646938320275	0.50377	0.91389	0.53435	D	AEFDGBCI	0.882908	0.81141	D	0.517933877809326	0.68151	5.177859	0.504873547102787	0.68318	5.203522	0.999999985237554	0.74766	0.764865	0.99124	0	0.588066	0.40923	0	0.731555	0.93304	0	0.604944	0.38103	0	.	.	4.65	4.65	0.57626	5.069000	0.64199	6.224000	0.55156	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.376	0.60185	883	0.28872	TGF-beta, propeptide;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	913.43	37	chr14	75980812	.	T	G	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=431;ExcessHet=0;FS=0.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=1.78;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	9	0	1	0
chr14	76154637	76154637	A	G	exonic	GPATCH2L	.	nonsynonymous SNV	GPATCH2L:NM_017972:exon1:c.A274G:p.M92V,GPATCH2L:NM_001322026:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322027:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322028:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322029:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322030:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322031:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322032:exon2:c.A274G:p.M92V,GPATCH2L:NM_017926:exon2:c.A274G:p.M92V	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00344021711396	0.0026	0.000399361	0.0033	0.0004	0.0008	0	0.0094	0.0048	0.0011	0.0006	0.003247	502	154602	rs149688470	0.0034	0.0034	0.0035	0.0032	0.0038	0.0033	0.0032	0.0037	0.0036	0.0004	0.0007	0.0011	0	0.0082	0.0012	0.0038	0.0023	0.0008	0.0027	0.0027	0.0025	0.0028	0.0038	0.0024	0.0024	0.0034	0.0033	0.0007	0	0.0010	0.0014	0	0.0087	0	0.0038	0.0009	0.0006	0.283	0.15354	T	0.168	0.30631	T	0.0	0.02946	B	0.0	0.01387	B	0.063322	0.22033	N	0.495587	1	0.08975	N	0.345	0.11182	N	0.99	0.42122	T	-2.53	0.54864	D	0.036	0.01274	-1.0031	0.29021	T	0.042	0.18035	T	10	0.003522098	0.00063	T	0.00344	0.07755	T	0.068	0.19811	.	.	0.209943299407	0.20609	0.09267352598221008	0.09199	0.266040754253	0.29149	0.266507744789	0.05690	T	0.091796	0.38871	T	-0.648783	0.00074	T	-0.700982	0.05773	T	0.00775653519711406	0.00091	T	0.782022	0.41734	T	0.044192888	0.07020	0.052467126	0.08650	0.044192888	0.07020	0.052467126	0.08650	-0.944	0.00992	T	.	.	0.050	0.00191	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.462952	0.08328	5.076	0.79342636390797827	0.12699	0.10129	0.15720	N	AEFDGBCI	0.047115	0.07899	N	-0.912280551624826	0.10554	0.5048776	-0.793050357247157	0.14666	0.7674522	0.999925499537747	0.46280	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.37	1.56	0.22423	-0.045000	0.11957	0.231000	0.16190	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.4464:0.2621:0.2915:0.0	5.206	0.14614	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2592.43	33	chr14	76154637	.	A	G	2592.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.179;DP=500;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.488;SOR=0.604	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1325	9	0	1	0
chr14	76778959	76778961	AAG	-	exonic	VASH1	.	nonframeshift deletion	VASH1:NM_014909:exon7:c.1039_1041del:p.K348del	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	8.637e-05	0	0	2.997e-05	0	0.0026	0.0002975	46	154602	rs780375125	0.0002	0.0002	0.0001	0.0002	0.0026	0.0002	0.0002	0.0023	0.0022	0	2.236e-05	0	0	5.618e-05	0.0002	3.147e-05	0.0001	0.0026	5.907e-05	5.905e-05	2.569e-05	9.396e-05	0.0012	3.074e-05	2.208e-05	0.0005	0.0004	0	0	6.532e-05	0	0	9.42e-05	0	1.47e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	4029.39	36	chr14	76778958	.	CAAG	C	4029.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.442;DP=468;ExcessHet=0;FS=3.149;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.04;ReadPosRankSum=0.362;SOR=0.463	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1065	9	0	1	0
chr14	76803460	76803460	T	C	exonic	ANGEL1	.	nonsynonymous SNV	ANGEL1:NM_001370748:exon7:c.A1529G:p.D510G,ANGEL1:NM_015305:exon7:c.A1529G:p.D510G,ANGEL1:NM_001370746:exon9:c.A1688G:p.D563G,ANGEL1:NM_001370747:exon9:c.A1688G:p.D563G	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	.	0.0073	0.00439297	0.0017	0.0188	0.0009	0	0	1.499e-05	0.0011	0	0.0015912	246	154602	rs112793085	0.0005	0.0005	0.0006	0.0004	0.0184	0.0005	0.0005	0.0172	0.0167	0.0184	0.0009	0	0	0	0.0003	1.169e-05	0.0012	6.956e-05	0.0059	0.0060	0.0062	0.0057	0.0211	0.0056	0.0055	0.0199	0.0194	0.0211	0	0.0013	0	0	0	0	4.41e-05	0.0028	0.0002	0.006	0.63226	D	0.061	0.50514	T	0.719	0.42322	P	0.294	0.40804	B	0.000000	0.84330	D	0.000000	0.999854	0.49910	D	1.895	0.50365	L	-1.51	0.81399	D	-1.96	0.51478	N	0.539	0.72746	-0.5470	0.66900	T	0.158	0.49076	T	10	0.008945912	0.00202	T	.	.	.	0.493	0.77910	.	.	0.906922225453	0.90599	0.773064602979837	0.77256	0.42068741533	0.42591	0.3709679842	0.20970	T	0.126254	0.45250	T	-0.309551	0.07788	T	-0.201168	0.54535	T	0.046598222254182	0.04893	T	0.786321	0.54393	T	0.34981063	0.57053	0.29543465	0.55575	0.34981063	0.57053	0.29543465	0.55574	-2.628	0.06719	T	.	.	0.190	0.40889	B	.;.	.;.	3.932448	0.57488	23.9	0.99705166153517633	0.80936	0.98394	0.82329	D	AEFBI	0.629500	0.61119	D	0.329098334574859	0.57647	3.932871	0.446483117210351	0.64492	4.705555	0.999977739423638	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.549000	0.66968	7.945000	0.75661	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.148:0.852	11.632	0.50440	938	0.14419	Endonuclease/exonuclease/phosphatase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	803.43	35	chr14	76803460	.	T	C	803.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.286;DP=390;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.713;SOR=0.428	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1241	9	0	1	0
chr14	76804970	76804973	ATTG	-	exonic	ANGEL1	.	frameshift deletion	ANGEL1:NM_001370746:exon6:c.1410_1413del:p.C470Wfs*25,ANGEL1:NM_001370747:exon6:c.1410_1413del:p.C470Wfs*25	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs200790055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0053	0.0057	0.0050	0.0189	0.0050	0.0049	0.0178	0.0174	0.0189	0	0.0013	0	0	0	0	0	0.0028	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	121.17	.	chr14	76804969	.	CATTG	C	121.17	.	AC=2;AF=0.167;AN=12;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.22;SOR=1.179	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,90	5	1	0	4
chr14	76804971	76804971	T	C	exonic	ANGEL1	.	nonsynonymous SNV	ANGEL1:NM_001370746:exon6:c.A1412G:p.N471S,ANGEL1:NM_001370747:exon6:c.A1412G:p.N471S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs552522228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	74.01	.	chr14	76804971	.	T	C	74.01	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.967;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:76804971_T_C:81,0,36:76804971	5	0	1	4
chr14	76804971	76804971	T	0	exonic	ANGEL1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	74.01	.	chr14	76804971	.	T	*	74.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.967;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.967;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1,0:3:36:0|1:76804971_T_C:81,84,126:76804971	5	1	0	4
chr14	76805004	76805004	T	C	splicing	ANGEL1	NM_001370747:exon6:c.1381-2A>G;NM_001370746:exon6:c.1381-2A>G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs990043941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.024e-05	3.967e-05	1.315e-05	2.773e-05	2.965e-05	5.38e-06	2.49e-06	4.92e-06	1.84e-06	2.534e-05	0	0	0	0	0	0	2.965e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	76.35	.	chr14	76805004	.	T	C	76.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=25.45;ReadPosRankSum=-0.967;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:76804971_T_C:81,0,36:76804971	3	0	1	6
chr14	77027304	77027304	-	GCGGCG	exonic	IRF2BPL	.	nonframeshift insertion	IRF2BPL:NM_024496:exon1:c.488_489insCGCCGC:p.A164_V165insAA	.	.	.	.	.	.	.	.	.	.	.	1318822	not_provided|IRF2BPL-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0005	0.0002	0	0	0.0003	0	0.0051	0.0001153	3	26028	rs762944175	0.0012	0.0013	0.0010	0.0015	0.0091	0.0012	0.0012	0.0086	0.0084	0.0012	0.0008	0.0001	0.0013	0.0002	0.0046	0.0007	0.0015	0.0091	0.0012	0.0012	0.0011	0.0013	0.0090	0.0011	0.0010	0.0069	0.0061	0.0016	0	0.0006	0	0.0008	0.0002	0	0.0008	0.0010	0.0090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4582.75	64	chr14	77027304	.	A	AGCGGCG	4582.75	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.391;DP=590;ExcessHet=7.0302;FS=1.11;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.853;SOR=0.685	GT:AD:DP:GQ:PL	0/0:45,0:79:99:674,808,1955	9	0	1	0
chr14	77027442	77027442	-	TGT	exonic	IRF2BPL	.	nonframeshift insertion	IRF2BPL:NM_024496:exon1:c.350_351insACA:p.Q127_L128insQ	.	608	878	24	4	8	40	0.0178971	.	.	.	2810600	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0067	0	0	0	0	0.0090	0.0098	0.0065	0.0004995	13	26028	rs778015822	0.0050	0.0051	0.0049	0.0051	0.0094	0.0048	0.0048	0.0066	0.0057	0.0016	0.0023	0.0084	0.0007	0.0014	0.0094	0.0053	0.0057	0.0055	0.0053	0.0045	0.0054	0.0052	0.0102	0.0049	0.0048	0.0074	0.0064	0.0024	0.0035	0.0065	0.0081	0.0009	0.0007	0.0165	0.0072	0.0070	0.0102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595142	0.638554	0.495781	0.628676	0.666667	0.581081	0.669231	0.521277	0.05	463.39	38	chr14	77027442	.	C	CTGT	463.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.06;ReadPosRankSum=1.54;SOR=0.446	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5098.24	24	chr14	77027448	.	CTGT	*	5098.24	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.486;DP=360;ExcessHet=5.1594;FS=4.025;InbreedingCoeff=-0.4141;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.127;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:12,0:30:99:0|1:77027445_C_T:698,735,1198:77027445	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	0/1:12,18:30:99:698,0,410	0	2	7	1
chr14	77914523	77914523	A	G	exonic	ADCK1	.	nonsynonymous SNV	ADCK1:NM_001366487:exon8:c.A1024G:p.I342V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs993858359	1.32e-05	1.32e-05	1.115e-05	1.56e-05	0.0005	7.08e-06	5.18e-06	0.0002	0.0002	0	0	0	0	0	0	3.937e-06	0	0.0005	2.628e-05	2.627e-05	0	5.379e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	35.52	0	chr14	77914523	.	A	G	35.52	.	AC=2;AF=0.143;AN=14;DP=21;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=17.76;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	6	1	0	3
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	983.97	138	chr14	78297852	.	G	A	983.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.136;DP=1458;ExcessHet=7.0302;FS=257.196;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=0.164;SOR=12.28	GT:AD:DP:GQ:PL	0/1:63,46:109:99:203,0,839	3	0	7	0
chr14	87947872	87947872	C	A	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon12:c.G1276T:p.D426Y,GALC:NM_000153:exon13:c.G1345T:p.D449Y,GALC:NM_001201402:exon13:c.G1267T:p.D423Y	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.242367421504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.34444	T	0.057	0.46406	T	0.99	0.63424	D	0.722	0.54942	P	0.169423	0.17419	N	0.558544	1	0.08975	N	2.76	0.80626	M	-3.66	0.95212	D	-1.06	0.27669	N	0.34	0.40765	0.431	0.89564	D	0.859	0.95305	D	10	0.38709575	0.54620	T	0.242367	0.88757	D	0.518	0.79461	0.493	0.58048	0.95552049638	0.95504	0.7889905702290672	0.78851	0.392744924576	0.40454	0.385046958923	0.22969	T	0.603594	0.87331	D	0.146417	0.68932	D	-0.0274579	0.68537	D	0.301827073097229	0.25079	T	0.89581	0.63671	D	0.08189652	0.18840	0.06625553	0.13548	0.08189652	0.18840	0.06625553	0.13547	-3.67	0.19688	T	.	.	0.112	0.22061	B	.;.;.;.	.;.;.;.	2.599252	0.33735	19.43	0.9747580135263203	0.34162	0.46773	0.27834	N	AEFBI	0.125411	0.24191	N	-0.046733103587956	0.39749	2.349084	-0.223256614156071	0.30704	1.731112	0.346733868523562	0.19640	0.638212	0.43195	0	0.601575	0.49859	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.47	3.51	0.39297	1.188000	0.31711	1.174000	0.24646	0.599000	0.40250	0.006000	0.17386	0.215000	0.23672	0.051000	0.15275	0.0:0.8286:0.0:0.1714	10.769	0.45514	920	0.19381	Glycosyl hydrolase family 59, central domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	115.05	36	chr14	87947872	.	C	A	115.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.378;DP=337;ExcessHet=0;FS=15.862;InbreedingCoeff=-0.0813;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.97;ReadPosRankSum=3.15;SOR=4.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,7:29:99:0|1:87947872_C_A:126,0,639:87947872	8	0	1	1
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	310.75	36	chr14	87947880	.	T	G	310.75	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.474;DP=295;ExcessHet=1.8123;FS=100.949;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=2.59;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,7:28:99:0|1:87947872_C_A:129,0,599:87947872	4	0	4	2
chr14	88438195	88438195	C	T	exonic	SPATA7	.	nonsynonymous SNV	SPATA7:NM_001040428:exon11:c.C1477T:p.P493S,SPATA7:NM_018418:exon12:c.C1573T:p.P525S	Leber congenital amaurosis 3;Retinitis pigmentosa, juvenile, autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00365222184078	.	.	0.0001	0	0	0	0	0	0.0011	0.0008	9.06e-05	14	154602	rs760844256	3.558e-05	3.557e-05	2.042e-05	5.089e-05	0.0006	2.763e-05	2.502e-05	0.0004	0.0004	0	0	0	0	0	0.0002	0	3.312e-05	0.0006	1.971e-05	1.969e-05	0	4.03e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.175	0.22573	T	0.493	0.11443	T	0.001	0.12996	B	0.011	0.21540	B	0.904271	0.07375	N	1.046920	1	0.08975	N	1.485	0.37223	L	1.53	0.30401	T	-1.53	0.37178	N	0.072	0.04547	-0.9847	0.33903	T	0.069	0.28180	T	10	0.01880771	0.00413	T	0.003652	0.08402	T	0.016	0.02506	0.298	0.26362	0.0138822411134	0.00435	0.05320765538415912	0.05262	0.100799961701	0.11392	0.2187153548	0.01237	T	0.015529	0.13011	T	-0.586652	0.00176	T	-0.719667	0.04812	T	0.0115152468683125	0.00173	T	0.634936	0.24909	T	0.03187496	0.03108	0.048124388	0.07080	0.0295307	0.02463	0.04789521	0.06998	-2.196	0.04021	T	0.23378402149535496	0.31648	0.073	0.08705	B	.;.;.	.;.;.	0.362157	0.07350	3.965	0.77076310464863262	0.11727	0.09748	0.15434	N	AEFBCI	0.050663	0.08878	N	-0.945707660558781	0.09789	0.4648692	-0.958304183779755	0.10731	0.5423423	6.9750418609945E-5	0.04366	0.706298	0.61202	0	0.670034	0.63936	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.87	1.01	0.19044	-0.477000	0.06663	-0.040000	0.12681	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.633000	0.32236	0.0:0.5369:0.147:0.3161	5.325	0.15209	650	0.62973	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	9438.43	33	chr14	88438195	.	C	T	9438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=1028;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=0.869;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr14	88469073	88469073	T	A	exonic	PTPN21	.	nonsynonymous SNV	PTPN21:NM_007039:exon18:c.A3239T:p.Y1080F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.0147054395236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.813	0.03013	T	0.523	0.19304	T	0.985	0.61118	D	0.848	0.60574	P	0.000000	0.84330	D	0.000000	0.999847	0.49770	D	-2.3	0.00097	N	3.0	0.09167	T	-0.88	0.38540	N	0.529	0.62781	-0.9593	0.39311	T	0.020	0.08266	T	10	0.2675118	0.44264	T	0.014705	0.35003	T	0.306	0.62729	0.634	0.77032	0.454054078574	0.45028	.	.	0.967044701673	0.73226	0.830655813217	0.86662	D	0.088294	0.38126	T	-0.0898529	0.38101	T	-0.366844	0.37258	T	0.711248159408569	0.41261	D	0.908309	0.83814	D	0.2557414	0.48610	0.12113398	0.29228	0.2557414	0.48610	0.12113398	0.29228	-6.701	0.51818	T	.	.	0.126	0.35951	B	.;.;.	.;.;.	4.116285	0.61489	24.3	0.78995596577612581	0.12544	0.99099	0.91210	D	AEFDBI	0.730652	0.67797	D	0.0609757330364375	0.44648	2.735089	0.180668777996559	0.48789	3.090127	0.999999999999991	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	6.081000	0.70951	6.064000	0.53197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.430000	0.27449	0.0:0.0:0.0:1.0	16.322	0.82788	651	0.62880	PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Tyrosine specific protein phosphatases domain|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic;PTP type protein phosphatase|PTP type protein phosphatase|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1410.43	35	chr14	88469073	.	T	A	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.43;DP=391;ExcessHet=0;FS=0.946;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.63;ReadPosRankSum=0.445;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1176	9	0	1	0
chr14	88705517	88705517	T	C	exonic	EML5	.	nonsynonymous SNV	EML5:NM_001385116:exon12:c.A1897G:p.I633V,EML5:NM_001385117:exon12:c.A1897G:p.I633V,EML5:NM_183387:exon12:c.A1897G:p.I633V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	0.00199681	0.0026	0	0.0002	0.0308	0	0	0.002	0	0.0011902	184	154602	rs144622692	0.0006	0.0006	0.0007	0.0005	0.0197	0.0006	0.0005	0.0186	0.0181	8.998e-05	6.87e-05	0	0.0197	0	0	2.71e-06	0.0011	1.187e-05	0.0006	0.0006	0.0006	0.0006	0.0156	0.0005	0.0005	0.0129	0.0119	0.0002	0	0	0	0.0156	0	0	0	0.0019	0	0.374	0.11732	T	0.282	0.21612	T	0.991	0.64070	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999586	0.47691	D	1.995	0.54099	M	1.09	0.39223	T	-0.63	0.18459	N	0.551	0.57690	-0.9144	0.46298	T	0.156	0.48807	T	10	0.008575171	0.00194	T	.	.	.	0.141	0.37795	.	.	0.412328234245	0.40847	.	.	0.260233757708	0.28594	0.696681857109	0.66665	T	0.010236	0.09261	T	-0.404077	0.02176	T	-0.338269	0.40541	T	0.0717291080092681	0.08892	T	0.918608	0.70760	D	0.12653561	0.29634	0.14034183	0.33457	0.12653561	0.29634	0.14034183	0.33456	-3.55	0.17713	T	.	.	0.211	0.43842	B	.;.	.;.	3.395046	0.47027	22.4	0.99155383822894916	0.53931	0.98809	0.87136	D	AEFI	0.913456	0.87546	D	0.545061361043724	0.69781	5.406117	0.570326553894455	0.72822	5.870839	0.9999965620552	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	7.674000	0.83146	5.141000	0.47710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.348	0.74077	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	1180.43	35	chr14	88705517	.	T	C	1180.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.44;DP=395;ExcessHet=0;FS=5.538;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-2.542;SOR=0.972	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	9	0	1	0
chr14	90872312	90872312	T	C	exonic	RPS6KA5	.	nonsynonymous SNV	RPS6KA5:NM_001322238:exon15:c.A1514G:p.K505R,RPS6KA5:NM_001322228:exon16:c.A2063G:p.K688R,RPS6KA5:NM_001322231:exon16:c.A1454G:p.K485R,RPS6KA5:NM_001322232:exon16:c.A1952G:p.K651R,RPS6KA5:NM_001322233:exon16:c.A2009G:p.K670R,RPS6KA5:NM_001322236:exon16:c.A2087G:p.K696R,RPS6KA5:NM_001322229:exon17:c.A2150G:p.K717R,RPS6KA5:NM_001322234:exon17:c.A1595G:p.K532R,RPS6KA5:NM_001322237:exon17:c.A1934G:p.K645R,RPS6KA5:NM_004755:exon17:c.A2171G:p.K724R,RPS6KA5:NM_001322227:exon18:c.A1328G:p.K443R,RPS6KA5:NM_001322230:exon18:c.A1370G:p.K457R,RPS6KA5:NM_001322235:exon18:c.A1934G:p.K645R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.0232260334944	.	.	8.464e-06	0	0	0	0	0	0	6.475e-05	6.5e-06	1	154602	rs772100058	1.097e-05	1.163e-05	1.228e-05	9.646e-06	0.0009	6.49e-06	5.26e-06	0.0003	0.0002	0	0	0	0	0	0.0009	5.4e-06	6.648e-05	1.166e-05	1.316e-05	1.314e-05	2.573e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.704	0.41950	P	0.065	0.27321	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.805	0.20218	L	-0.29	0.67712	T	-0.37	0.13226	N	0.234	0.26354	-0.8518	0.51844	T	0.102	0.37819	T	10	0.16188607	0.30353	T	0.023226	0.46179	T	0.274	0.59007	0.381	0.39807	0.82122972629	0.81954	0.23293645579237665	0.23208	.	.	0.815565109253	0.84347	D	0.153362	0.49418	T	-0.0172034	0.49251	T	-0.161858	0.58184	T	0.123929281036057	0.14810	T	0.840516	0.51562	T	0.3931568	0.60255	0.28093156	0.54071	0.3931568	0.60255	0.28093156	0.54070	1.489	0.00121	T	.	.	0.080	0.13456	B	.;.	.;.	2.921819	0.38794	20.8	0.31854792575975299	0.01816	0.99538	0.97210	D	AEFDGBI	0.894514	0.83357	D	-0.0411481563159326	0.39999	2.36801	0.14025808035195	0.46629	2.905761	0.999999999998699	0.74766	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.25	5.25	0.73169	6.274000	0.72607	4.272000	0.42850	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	15.463	0.75110	702	0.57624	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	567.43	41	chr14	90872312	.	T	C	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.889;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=-1.36;SOR=0.663	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1010	9	0	1	0
chr14	91175972	91175972	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon7:c.G646A:p.G216R,DGLUCY:NM_001286471:exon7:c.G631A:p.G211R,DGLUCY:NM_001358310:exon7:c.G646A:p.G216R,DGLUCY:NM_001358311:exon7:c.G631A:p.G211R,DGLUCY:NM_001358312:exon7:c.G646A:p.G216R,DGLUCY:NM_024952:exon7:c.G631A:p.G211R,DGLUCY:NM_001102367:exon8:c.G631A:p.G211R,DGLUCY:NM_001102366:exon9:c.G631A:p.G211R,DGLUCY:NM_001102369:exon9:c.G595A:p.G199R,DGLUCY:NM_001286472:exon9:c.G646A:p.G216R,DGLUCY:NM_001286470:exon10:c.G646A:p.G216R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.0967902212183	.	.	4.118e-05	9.61e-05	0	0	0	4.495e-05	0	6.056e-05	3.23e-05	5	154602	rs771553587	2.736e-05	2.736e-05	2.995e-05	2.475e-05	0.0003	2.063e-05	1.816e-05	6.092e-05	2.521e-05	0	4.472e-05	0	2.52e-05	0	0.0003	2.788e-05	4.968e-05	1.159e-05	2.629e-05	2.627e-05	1.285e-05	4.036e-05	4.827e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.145	0.33000	T	0.946	0.60036	P	0.324	0.49239	B	0.000001	0.84330	N	0.054486	0.998466	0.44953	D	.	.	.	0.12	0.61089	T	-6.76	0.93329	D	0.599	0.62273	-0.6779	0.61469	T	0.228	0.59321	T	10	0.69051486	0.71826	D	0.09679	0.76662	D	0.353	0.67418	0.758	0.88730	0.659394921938	0.65654	0.8623551779488942	0.86199	0.281392547589	0.30611	.	.	.	0.226358	0.77793	T	0.126977	0.67064	D	0.126145	0.78639	D	0.942121863365173	0.61602	D	0.755224	0.37818	T	0.5299377	0.68827	0.47011837	0.69272	0.5299377	0.68828	0.47011837	0.69273	-7.031	0.68051	T	.	.	0.210	0.46585	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.411814	0.30999	18.61	0.99826242525848052	0.90852	0.75428	0.36930	D	AEFDBI	0.097323	0.19631	N	0.0529384963321993	0.44276	2.704744	-0.0601148831241907	0.37056	2.164571	0.909126059300528	0.26303	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.06	3.24	0.36257	2.468000	0.44759	1.997000	0.30104	0.575000	0.29119	0.997000	0.40164	0.982000	0.30508	0.172000	0.21044	0.1642:0.0:0.8358:0.0	9.598	0.38749	904	0.23766	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.004076	0.008772	0.000000	0.008621	0.000000	0.000000	0.05	2333.43	85	chr14	91175972	.	G	A	2333.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=594;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.735;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	9	0	1	0
chr14	91199818	91199818	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon11:c.G1357A:p.A453T,DGLUCY:NM_001286471:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358310:exon11:c.G1357A:p.A453T,DGLUCY:NM_001358311:exon11:c.G1342A:p.A448T,DGLUCY:NM_001358312:exon11:c.G1357A:p.A453T,DGLUCY:NM_024952:exon11:c.G1342A:p.A448T,DGLUCY:NM_001102367:exon12:c.G1342A:p.A448T,DGLUCY:NM_001102366:exon13:c.G1342A:p.A448T,DGLUCY:NM_001102369:exon13:c.G1306A:p.A436T,DGLUCY:NM_001286472:exon13:c.G1357A:p.A453T,DGLUCY:NM_001286470:exon14:c.G1357A:p.A453T	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0004	0.0205671	0.0111	0.0006	0.0006	0.0769	0	8.99e-05	0.0077	0.0394	0.009974	1542	154602	rs114411077	0.0049	0.0049	0.0038	0.0060	0.0798	0.0048	0.0048	0.0775	0.0766	0.0005	0.0002	0	0.0798	0	0.0019	6.475e-05	0.0074	0.0401	0.0045	0.0046	0.0033	0.0058	0.0781	0.0042	0.0041	0.0718	0.0693	0.0009	0	0.0018	0	0.0781	0	0	7.351e-05	0.0052	0.0427	0.124	0.27426	T	0.738	0.07105	T	0.084	0.25884	B	0.028	0.24832	B	0.000714	0.42254	N	0.270289	1	0.08975	N	.	.	.	2.23	0.18083	T	-1.74	0.41809	N	0.279	0.34012	-1.0614	0.11410	T	0.009	0.03183	T	10	0.0037378073	0.00069	T	.	.	.	0.072	0.21020	.	.	.	.	0.8095712159820677	0.80912	0.130808477754	0.14758	.	.	.	0.028224	0.20494	T	-0.564384	0.00239	T	-0.514056	0.20900	T	0.015212250864031	0.00334	T	0.826617	0.54490	T	0.0244838	0.01285	0.049020838	0.07404	0.0244838	0.01285	0.049020838	0.07403	-6.721	0.73588	T	.	.	0.275	0.57695	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.918439	0.24368	16.37	0.97925090518359759	0.36914	0.73035	0.35731	D	AEFDBI	0.090541	0.18345	N	-0.562280617518052	0.20100	1.057143	-0.659601785264983	0.17974	0.9581703	0.473240990626478	0.20725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-0.0833	0.13029	2.877000	0.48205	0.125000	0.14969	-0.159000	0.11634	0.979000	0.35152	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.5156:0.2704	4.371	0.10683	905	0.23532	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1468.43	36	chr14	91199818	.	G	A	1468.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.667;DP=435;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-0.657;SOR=0.582	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1470	9	0	1	0
chr14	91294279	91294279	G	C	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon23:c.C4006G:p.H1336D	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.110703166252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455945019	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.027	0.55341	D	0.03	0.20002	B	0.045	0.24526	B	0.003960	0.34294	U	0.128775	1	0.81001	D	2.875	0.83380	M	0.32	0.58468	T	-4.66	0.79482	D	0.726	0.72746	-0.6888	0.60964	T	0.226	0.59121	T	10	0.52896744	0.63073	D	0.110703	0.78820	D	0.305	0.62620	0.201	0.11522	0.706536499594	0.70398	0.26293940857758624	0.26206	0.522592563707	0.49982	0.65956056118	0.61346	T	0.155347	0.49704	T	-0.0463826	0.44995	T	-0.122874	0.61566	T	0.971281170845032	0.69260	D	0.865513	0.56452	D	0.48181796	0.66010	0.6728796	0.80800	0.48181796	0.66011	0.6728796	0.80801	-15.984	0.97737	D	.	.	0.695	0.72737	P	.	.	4.201172	0.63402	24.6	0.98732710379387323	0.45378	0.97251	0.73587	D	AEFDGBCI	0.821377	0.74195	D	0.159423136233478	0.49259	3.12829	0.257915364937592	0.53102	3.480787	0.999999999999995	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	9.982000	0.99168	6.696000	0.56356	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:1.0:0.0	18.218	0.89828	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1924.43	34	chr14	91294279	.	G	C	1924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.149;DP=442;ExcessHet=0;FS=4.407;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=1.59;SOR=0.386	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr14	91339397	91339397	C	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon8:c.G690T:p.K230N	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	2876015	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.051	0.0242770888536	.	.	0.0002	0	0	0	0	0	0	0.0013	0.0001423	22	154602	rs774853335	9.513e-05	9.645e-05	3.949e-05	0.0002	0.0015	8.205e-05	7.72e-05	0.0013	0.0012	0	0	0	0	0	0.0005	8.996e-07	9.94e-05	0.0015	3.287e-05	3.284e-05	1.285e-05	5.384e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.193	0.20912	T	0.177	0.29740	T	0.336	0.33356	B	0.148	0.34065	B	0.185114	0.16997	U	0.494203	1	0.08975	N	1.2	0.30300	L	0.92	0.44461	T	-2.15	0.48687	N	0.413	0.45331	-1.0749	0.08369	T	0.066	0.27121	T	10	0.024396598	0.00669	T	0.024277	0.47266	T	0.051	0.14325	0.435	0.48664	0.442261297928	0.43845	0.17738444704325287	0.17657	0.472557916991	0.46495	0.413896203041	0.26995	T	0.031616	0.22120	T	-0.622434	0.00106	T	-0.691487	0.06303	T	0.0528517668626481	0.05994	T	0.256674	0.04023	T	0.09529641	0.22423	0.07720144	0.17176	0.09713975	0.22892	0.10343219	0.24817	-3.345	0.14325	T	.	.	0.230	0.46320	B	.	.	2.278986	0.29141	18.03	0.97894994287727344	0.36697	0.49493	0.28446	N	AEFDBCI	0.209093	0.33511	N	-0.460351812098027	0.23390	1.255761	-0.432914896617475	0.24037	1.314102	0.999571758709782	0.40495	0.744818	0.98587	0	0.702456	0.74545	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.25	3.26	0.36471	1.378000	0.33935	1.618000	0.27672	0.599000	0.40250	0.002000	0.15269	0.975000	0.29991	0.004000	0.06068	0.0:0.6976:0.1363:0.1661	8.099	0.30007	672	0.60758	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.003788	0.05	1972.43	33	chr14	91339397	.	C	A	1972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.782;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=0.456;SOR=0.681	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr14	91621619	91621619	C	T	exonic	CATSPERB	.	nonsynonymous SNV	CATSPERB:NM_024764:exon19:c.G2249A:p.R750Q	.	451	1067	4	0	0	4	0.00187091	.	.	.	2266665	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.104	0.016317631134	.	.	4.395e-05	0	0	0.0002	0	1.54e-05	0	0.0002	3.88e-05	6	154602	rs778453509	2.437e-05	2.599e-05	2.213e-05	2.664e-05	0.0005	1.769e-05	1.566e-05	0.0001	7.891e-05	6.18e-05	2.476e-05	0	0.0002	0	0.0005	1.638e-05	1.689e-05	4.834e-05	4.602e-05	4.597e-05	6.425e-05	2.692e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.415e-05	0	6.548e-05	0	0	0	0	7.35e-05	0	0	0.382	0.11120	T	0.203	0.27325	T	0.864	0.47514	P	0.211	0.37346	B	0.001922	0.37643	N	0.120245	1	0.08975	N	0.69	0.16971	N	0.97	0.42502	T	0.47	0.03090	N	0.038	0.01203	-1.0847	0.06462	T	0.067	0.27399	T	10	0.07281858	0.10920	T	0.016318	0.37519	T	0.104	0.29647	0.429	0.47680	0.326616659874	0.32268	0.5734527423403922	0.57274	0.240805086689	0.26615	0.309206366539	0.11787	T	0.021431	0.16689	T	-0.543839	0.00318	T	-0.684813	0.06694	T	0.0460287160931548	0.04790	T	.	.	.	0.032679223	0.03340	0.036305644	0.03051	0.032679223	0.03339	0.036305644	0.03050	-3.874	0.21913	T	.	.	0.082	0.08705	B	.	.	2.191186	0.27940	17.63	0.98344977505812115	0.40477	0.33974	0.24957	N	AEFDHI	0.093914	0.18995	N	-0.481017583089209	0.22704	1.214148	-0.497730283687909	0.22216	1.205598	0.00670195099382906	0.11287	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	3.59	0.40253	1.922000	0.39675	3.149000	0.36517	-1.388000	0.01152	0.989000	0.36753	0.999000	0.35428	0.003000	0.05239	0.0:0.3415:0.6585:0.0	12.437	0.54941	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1363.43	33	chr14	91621619	.	C	T	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.19;DP=461;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.535;SOR=0.968	GT:AD:DP:GQ:PL	0/1:85,57:142:99:1375,0,2027	9	0	1	0
chr14	92577441	92577441	G	A	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon2:c.G106A:p.E36K,RIN3:NM_024832:exon3:c.G331A:p.E111K	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	0.0004	0.0223642	0.0117	0.0002	0.0092	0.0799	0.0153	0.0010	0.0099	0.0270	0.0108666	1680	154602	rs2274542	0.0051	0.0052	0.0045	0.0058	0.0850	0.0050	0.0050	0.0826	0.0816	0.0003	0.0102	0.0031	0.0850	0.0114	0.0021	0.0003	0.0066	0.0266	0.0062	0.0062	0.0042	0.0082	0.0753	0.0058	0.0057	0.0691	0.0667	0.0002	0	0.0120	0.0037	0.0753	0.0148	0	0.0005	0.0028	0.0299	0.31	0.14017	T	0.224	0.25591	T	0.013	0.16609	B	0.002	0.06944	B	0.093875	0.20202	N	0.355351	1	0.08975	N	1.785	0.46417	L	1.67	0.27331	T	-1.43	0.35194	N	0.176	0.18920	-1.0766	0.08023	T	0.004	0.01192	T	10	0.0025177598	0.00038	T	.	.	.	0.012	0.01476	.	.	.	.	0.2621540740242127	0.26128	0.297130463157	0.32095	0.437524139881	0.30239	T	0.003608	0.19564	T	-0.58772	0.00173	T	-0.550189	0.17309	T	0.00291769105242811	0.00030	T	0.820318	0.47908	T	0.029630367	0.02490	0.04870109	0.07290	0.029630367	0.02489	0.04870109	0.07289	-6.256	0.48373	T	.	.	0.078	0.11461	B	.;.	.;.	1.334084	0.17395	13.14	0.9670162321042387	0.30777	0.14014	0.18176	N	ALL	0.068226	0.13449	N	-0.70204353236434	0.15963	0.8092279	-0.7289887455085	0.16241	0.8581969	0.999999999984839	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.91	3.08	0.34576	0.751000	0.26013	0.759000	0.21299	0.676000	0.76740	0.249000	0.24839	0.118000	0.22871	0.016000	0.10718	0.1893:0.0:0.8107:0.0	8.074	0.29869	675	0.60470	SH2 domain|SH2 domain|Ras and Rab interactor 3, SH2 domain;SH2 domain|SH2 domain|Ras and Rab interactor 3, SH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.05	1659.43	34	chr14	92577441	.	G	A	1659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.279;DP=440;ExcessHet=0;FS=2.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=1.99;SOR=0.925	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1042	9	0	1	0
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	840	0.37365	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.1	1946.14	38	chr14	92652445	.	A	C	1946.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=535;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.907;SOR=0.697	GT:AD:DP:GQ:PL	0/1:48,38:86:99:892,0,1223	8	0	2	0
chr14	93928605	93928605	A	G	exonic	FAM181A	.	nonsynonymous SNV	FAM181A:NM_001207071:exon2:c.A320G:p.E107G,FAM181A:NM_001207072:exon2:c.A320G:p.E107G,FAM181A:NM_001207073:exon2:c.A320G:p.E107G,FAM181A:NM_001207074:exon2:c.A320G:p.E107G,FAM181A:NM_138344:exon3:c.A506G:p.E169G	.	345	1172	5	0	0	5	0.00212857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0145246813573	.	.	0.0001	0	0	0	0	1.522e-05	0.0011	0.0009	0.00011	17	154602	rs779476039	6.294e-05	6.293e-05	3.812e-05	8.802e-05	0.0009	5.228e-05	4.846e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0.0009	1.529e-05	0.0002	0.0007	1.315e-05	1.314e-05	0	2.692e-05	0.0004	2.19e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.069	0.42487	T	0.061	0.51112	T	0.649	0.40609	P	0.273	0.40007	B	0.003399	0.35013	N	0.109558	0.94086	0.37313	D	2.3	0.65703	M	1.39	0.33842	T	-1.95	0.45222	N	0.234	0.26596	-1.0488	0.14733	T	0.080	0.31645	T	10	0.032463253	0.01398	T	0.014525	0.34707	T	0.054	0.15330	0.179	0.08626	0.275641507738	0.27180	0.09136783912060598	0.09069	0.0751530220083	0.08431	0.333906710148	0.15522	T	0.059594	0.31157	T	-0.35721	0.04290	T	-0.383292	0.35335	T	0.154947764997301	0.17491	T	.	.	.	0.2386336	0.46743	0.3859755	0.63501	0.2386336	0.46743	0.3859755	0.63501	-2.849	0.08643	T	.	.	0.097	0.15654	B	.;.;.;.;.	.;.;.;.;.	3.421446	0.47512	22.5	0.99804521851733885	0.88906	0.83628	0.42733	D	AEFDBCI	0.292312	0.40322	N	-0.00164278230870515	0.41781	2.505308	0.0353019410231505	0.41368	2.48405	0.848735444952118	0.25003	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	3.57	0.40014	2.341000	0.43640	4.557000	0.43826	0.658000	0.54486	0.965000	0.33920	0.999000	0.35428	0.988000	0.63387	0.7041:0.2959:0.0:0.0	11.046	0.47076	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	600.43	33	chr14	93928605	.	A	G	600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=370;ExcessHet=0;FS=1.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-2.262;SOR=0.982	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	9	0	1	0
chr14	93947488	93947488	C	T	exonic	ASB2	.	nonsynonymous SNV	ASB2:NM_016150:exon5:c.G769A:p.A257T,ASB2:NM_001202429:exon7:c.G913A:p.A305T	.	.	.	.	.	.	.	.	.	.	.	2245426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.255	0.0420654982733	.	.	1.648e-05	9.614e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs750583189	1.026e-05	1.026e-05	1.225e-05	8.251e-06	5.038e-05	6.16e-06	4.89e-06	8.35e-06	3.12e-06	2.987e-05	2.236e-05	0	5.038e-05	1.875e-05	0	8.093e-06	0	1.159e-05	3.284e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.027	0.47745	D	0.127	0.35082	T	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.052196	0.997719	0.44125	D	1.755	0.45626	L	-0.09	0.64086	T	-2.42	0.53096	N	0.305	0.34444	-0.6606	0.62249	T	0.269	0.64013	T	10	0.31506133	0.48941	T	0.042065	0.60266	D	0.255	0.56562	.	.	0.722883172842	0.72043	0.5073994109247214	0.50661	2.08941836619	0.94716	0.557665526867	0.46938	T	0.221235	0.58474	T	-0.230875	0.16532	T	-0.332744	0.41164	T	0.332584738731384	0.26328	T	.	.	.	0.34769416	0.56887	0.22111481	0.46910	0.34769416	0.56887	0.22111481	0.46909	.	.	.	.	.	0.724	0.74570	P	.;.;.	.;.;.	4.389664	0.67730	25.1	0.99897937133053738	0.97048	0.84946	0.44043	D	AEFDGBI	0.311151	0.41697	N	0.149334630351623	0.48782	3.086159	0.131227289872621	0.46155	2.866155	0.999999987432011	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.573078	0.19857	0	0.567339	0.31927	0	.	.	5.19	5.19	0.71428	2.664000	0.46448	5.893000	0.50786	0.524000	0.24156	0.984000	0.35821	1.000000	0.68203	0.107000	0.18608	0.0:1.0:0.0:0.0	18.717	0.91643	379	0.83778	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1994.43	37	chr14	93947488	.	C	T	1994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.558;DP=506;ExcessHet=0;FS=1.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-2.442;SOR=0.805	GT:AD:DP:GQ:PL	0/1:98,90:188:99:2006,0,2203	9	0	1	0
chr14	94208473	94208473	A	C	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348145:exon3:c.A201C:p.Q67H,PPP4R4:NM_020958:exon3:c.A201C:p.Q67H,PPP4R4:NM_058237:exon3:c.A201C:p.Q67H	.	442	1076	4	0	0	4	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392	0.010076433821	.	0.000399361	0.0005	0	9.096e-05	0	0	7.696e-05	0	0.0031	0.0003881	60	154602	rs143912585	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0007	4.517e-05	0.0002	0.0027	7.227e-05	7.218e-05	6.427e-05	8.064e-05	0.0015	3.971e-05	3.127e-05	0.0007	0.0005	0	0	0	0	0	0	0	5.887e-05	0	0.0015	0.018	0.72154	D	0.014	0.92824	D	0.307	0.70673	B	0.077	0.69102	B	0.000001	0.84330	D	0.055986	0.901289	0.36178	D	2.045	0.56016	M	.	.	.	-1.94	0.51157	N	0.524	0.61596	-0.5878	0.65308	T	0.234	0.60063	T	9	0.014137387	0.00298	T	0.010076	0.26191	T	0.392	0.70764	0.351	0.34922	0.236278675362	0.23226	0.6647364679824963	0.66410	0.921292065219	0.71464	0.566585123539	0.48195	T	0.050815	0.28703	T	-0.325006	0.06495	T	-0.243928	0.50413	T	0.106766890816218	0.13085	T	0.933507	0.75104	D	0.16534679	0.36800	0.11476845	0.27704	0.16534679	0.36800	0.11476845	0.27704	-7.487	0.57519	T	.	.	0.609	0.73830	P	.;.	.;.	1.822798	0.23161	15.91	0.99690058079012467	0.79842	0.82456	0.41681	D	AEFI	0.187481	0.31477	N	0.0328206784815014	0.43352	2.629882	0.0405610413214541	0.41617	2.503369	0.102296844634711	0.16410	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.51	1.88	0.24630	0.556000	0.23144	0.992000	0.23199	-0.648000	0.04400	0.998000	0.41325	0.989000	0.31174	0.579000	0.30870	0.7574:0.0:0.2426:0.0	8.051	0.29736	830	0.39242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1296.43	33	chr14	94208473	.	A	C	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.503;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.499;SOR=0.772	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,930	9	0	1	0
chr14	94290332	94290332	G	A	exonic	SERPINA10	.	stopgain	SERPINA10:NM_001100607:exon2:c.C262T:p.R88X,SERPINA10:NM_016186:exon2:c.C262T:p.R88X	.	406	1043	67	6	0	79	0.0364896	.	.	.	967233	not_provided|LAMB2-related_infantile-onset_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00539137	0.0075	0.0024	0.0081	0.0002	0.0015	0.0075	0.0088	0.0162	0.0002689	7	26028	rs2232698	0.0066	0.0066	0.0061	0.0070	0.0695	0.0065	0.0064	0.0639	0.0617	0.0027	0.0069	0.0196	0.0002	0.0015	0.0695	0.0056	0.0090	0.0160	0.0053	0.0053	0.0051	0.0055	0.0139	0.0050	0.0049	0.0112	0.0102	0.0016	0	0.0076	0.0202	0.0002	0.0011	0.0748	0.0063	0.0104	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.000033	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.86085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.	.;High;.;.	7.984329	0.97058	36	0.99821763425602916	0.90414	0.76946	0.37781	D	AEFBCI	0.382980	0.46466	N	0.319043072116327	0.57125	3.878893	0.0876574291364291	0.43925	2.684392	0.999858293275741	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	4.87	3.04	0.34171	1.993000	0.40367	0.274000	0.16691	0.373000	0.20310	0.981000	0.35396	0.000000	0.08366	0.730000	0.35099	0.1556:0.0:0.5649:0.2795	5.893	0.18165	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.056898	0.040404	0.059783	0.108187	0.000000	0.077586	0.039634	0.026515	0.05	1884.43	34	chr14	94290332	.	G	A	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=517;ExcessHet=0;FS=1.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.66;ReadPosRankSum=0.78;SOR=0.688	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,116,1531	9	0	1	0
chr14	94304471	94304471	C	T	exonic	SERPINA6	.	nonsynonymous SNV	SERPINA6:NM_001756:exon5:c.G1165A:p.D389N	Corticosteroid-binding globulin deficiency, Autosomal recessive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	YES	32014	Corticosteroid-binding_globulin_deficiency|SERPINA6-related_disorder	MONDO:MONDO:0012675,MedGen:C1852529,OMIM:611489,Orphanet:199247|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.518	0.0969866026375	0.0004	.	0.0005	0.0002	0.0003	0	0	0.0008	0.0011	6.057e-05	0.0004592	71	154602	rs28929488	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0013	0.0003	0.0007	0.0070	0	0	0.0026	0.0002	0.0008	3.478e-05	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0013	0.0011	0.0001	0	0.0018	0.0058	0	0	0.0034	0.0003	0.0019	0	0.37	0.11550	T	0.148	0.32675	T	0.983	0.60381	D	0.633	0.51840	P	0.000007	0.62929	D	0.000000	0.999624	0.47904	A	2.195	0.61839	M	-2.52	0.89363	D	-3.38	0.66780	D	0.357	0.39861	0.294	0.87458	D	0.655	0.88008	D	9	0.013436496	0.00285	T	0.096987	0.76697	D	0.518	0.79461	.	.	0.914113986128	0.91325	0.6811136844890201	0.68050	0.451884164349	0.44925	0.47656416893	0.35584	T	0.655655	0.89604	D	-0.28731	0.09907	T	-0.264739	0.48350	T	0.168483659625053	0.18477	T	.	.	.	0.7294336	0.79691	0.4070754	0.65062	0.75568056	0.81201	0.4333246	0.66889	-5.417	0.41083	T	0.4229849335262414	0.51145	0.417	0.60496	A	.	.	3.108687	0.41921	21.4	0.99681671729183963	0.79307	0.97281	0.73769	D	AEFBI	0.784946	0.71547	D	-0.0884701183213852	0.37898	2.211554	-0.183397560427683	0.32146	1.825983	0.999608245388493	0.40866	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.83	3.93	0.44666	3.956000	0.56429	1.383000	0.26051	0.599000	0.40250	0.997000	0.40164	0.774000	0.26724	0.588000	0.31090	0.0:0.8426:0.1574:0.0	13.467	0.60716	929	0.16858	Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1520.43	34	chr14	94304471	.	C	T	1520.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.264;DP=452;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.111;SOR=0.895	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	9	0	1	0
chr14	94448330	94448330	G	A	exonic	SERPINA11	.	nonsynonymous SNV	SERPINA11:NM_001080451:exon2:c.C445T:p.P149S	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.0571845778194	0.0028	0.000599042	0.0022	0.0004	0.0025	0	0.0006	0.0034	0.0011	0.0004	0.0022121	342	154602	rs61738925	0.0029	0.0029	0.0030	0.0027	0.0033	0.0028	0.0028	0.0032	0.0032	0.0006	0.0032	0.0028	0	0.0005	0.0016	0.0033	0.0038	0.0003	0.0025	0.0025	0.0023	0.0028	0.0048	0.0023	0.0022	0.0039	0.0036	0.0007	0	0.0048	0.0040	0	0.0004	0	0.0037	0.0038	0.0004	0.006	0.61437	D	0.024	0.56640	D	0.295	0.32424	B	0.179	0.35808	B	0.000256	0.46924	D	0.092528	0.870577	0.35555	D	2.37	0.68279	M	-1.8	0.83893	D	-2.21	0.49684	N	0.427	0.46649	0.266	0.86999	D	0.550	0.83503	D	10	0.014007002	0.00295	T	0.057185	0.66874	D	0.533	0.80367	.	.	0.730538620245	0.72814	0.38509404776505335	0.38424	0.317205355367	0.33965	0.353736400604	0.18471	T	0.339486	0.70862	T	-0.249648	0.14140	T	-0.132217	0.60785	T	0.0277473004377803	0.01651	T	0.670133	0.27879	T	0.3237854	0.54958	0.38823158	0.63672	0.3237854	0.54958	0.38823158	0.63672	-10.395	0.76242	D	.	.	0.326	0.54918	B	.	.	3.211850	0.43726	21.8	0.99899416708535194	0.97124	0.78989	0.39059	D	AEFDBI	0.676660	0.64163	D	0.0888398172282625	0.45943	2.842489	0.121228589835616	0.45636	2.823309	0.999998580860093	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.04	5.04	0.67293	2.492000	0.44970	7.125000	0.57606	0.676000	0.76740	0.942000	0.32722	1.000000	0.68203	0.007000	0.07825	0.0:0.0:0.8514:0.1486	14.338	0.66168	895	0.25842	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1336.43	41	chr14	94448330	.	G	A	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.075;DP=493;ExcessHet=0;FS=1.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=-0.751;SOR=0.87	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,113,1311	9	0	1	0
chr14	94464835	94464835	G	C	exonic	SERPINA9	.	nonsynonymous SNV	SERPINA9:NM_001284275:exon4:c.C682G:p.P228A,SERPINA9:NM_175739:exon4:c.C922G:p.P308A,SERPINA9:NM_001042518:exon5:c.C622G:p.P208A,SERPINA9:NM_001284276:exon5:c.C529G:p.P177A	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	0.182556330366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.158e-06	6.156e-06	5.446e-06	6.877e-06	0.0009	2.9e-06	2.1e-06	0.0003	0.0002	0	0	0	0	0	0.0009	0	6.624e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000009	0.62929	D	0.000000	0.996278	0.43112	D	4.395	0.98631	H	-5.12	0.98731	D	-7.79	0.95950	D	0.732	0.74462	1.013	0.97403	D	0.983	0.99472	D	10	0.95256066	0.94598	D	0.182556	0.85628	D	0.826	0.94466	0.832	0.94105	0.978538963705	0.97830	0.37770411131204273	0.37685	0.123572349966	0.13909	0.411369025707	0.26647	T	0.491326	0.81574	T	0.344229	0.86118	D	0.256685	0.85936	D	0.999726235866547	0.98678	D	0.871313	0.58632	D	0.9715206	0.98401	0.91352105	0.95939	0.9715206	0.98401	0.91352105	0.95939	-12.966	0.90537	D	.	.	0.756	0.80455	P	.;.;.;.;.;.	.;.;.;.;.;.	4.752547	0.76759	26.6	0.99161932721756263	0.54127	0.96607	0.69990	D	AEFDBI	0.503043	0.53520	D	0.816843468048063	0.87149	9.118879	0.641081097061731	0.77949	6.778704	0.999998792274488	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.83	3.83	0.43287	7.963000	0.87472	10.975000	0.84560	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.474000	0.28430	0.0:0.0:1.0:0.0	15.907	0.79224	856	0.34373	.;.;.;.;Serpin domain|Serpin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	738.43	38	chr14	94464835	.	G	C	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.106;DP=433;ExcessHet=0;FS=0.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-0.588;SOR=0.543	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,20:81:99:0|1:94497802_C_T:141,0,1728:94497802	0	0	10	0
chr14	94497803	94497803	C	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595C:p.G199R,SERPINA12:NM_001382267:exon2:c.G595C:p.G199R,SERPINA12:NM_173850:exon3:c.G595C:p.G199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0338676746747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	2.267e-05	0	0	.	.	0	2.267e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.54	0.09760	T	0.172	0.28767	B	0.115	0.31843	B	0.251813	0.15493	N	0.613802	1	0.08975	N	1.43	0.35840	L	-2.28	0.87512	D	-2.7	0.57599	D	0.145	0.14622	-0.7398	0.58463	T	0.386	0.74150	T	10	0.071498126	0.10548	T	0.033868	0.55283	D	0.145	0.38592	0.491	0.57732	0.296329037015	0.29243	0.6547714582531228	0.65413	0.17525157231	0.19731	0.369718432426	0.20792	T	0.047171	0.27643	T	-0.126477	0.32067	T	-0.336586	0.40731	T	0.715756177902222	0.41485	D	0.756024	0.37907	T	0.38583905	0.59736	0.29259723	0.55287	0.38583905	0.59736	0.29259723	0.55286	-2.678	0.07120	T	.	.	0.263	0.53064	B	.;.	.;.	2.036488	0.25887	16.92	0.96925687929522253	0.31636	0.12320	0.17196	N	AEFCI	0.146063	0.26942	N	-0.75468411629497	0.14505	0.7231708	-0.729290243828485	0.16234	0.8577662	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	129.43	38	chr14	94497803	.	C	G	129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.807;DP=658;ExcessHet=0;FS=66.741;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=1.43;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,20:81:99:0|1:94497802_C_T:141,0,1728:94497802	9	0	1	0
chr14	94563775	94563775	G	A	exonic	SERPINA4	.	nonsynonymous SNV	SERPINA4:NM_001289032:exon2:c.G404A:p.R135H,SERPINA4:NM_001289033:exon2:c.G293A:p.R98H,SERPINA4:NM_006215:exon2:c.G293A:p.R98H	.	427	1094	1	0	0	1	0.00045683	.	.	.	3310928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.276	0.150410418342	.	0.000199681	0.0002	9.764e-05	0	0	0.0003	0.0001	0.0011	0.0008	0.0002005	31	154602	rs201138033	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0007	0.0006	0	2.236e-05	7.652e-05	0	0.0002	0	9.442e-05	9.935e-05	0.0008	0.0001	0.0001	7.71e-05	0.0002	0.0006	7.573e-05	6.278e-05	0.0002	9.011e-05	2.406e-05	0	0	0.0003	0	0.0005	0	0.0001	0	0.0006	0.029	0.45756	D	0.165	0.30926	T	0.076	0.24253	B	0.02	0.19048	B	0.237406	0.03559	N	1.744850	1	0.08975	N	0.33	0.10399	N	-1.92	0.84773	D	-0.8	0.22078	N	0.028	0.00618	-0.5332	0.67420	T	0.423	0.76730	T	10	0.027003646	0.00855	T	0.15041	0.83210	D	0.276	0.59253	.	.	0.628863794302	0.62583	0.11248466010043547	0.11177	0.273123043664	0.29818	0.200810089707	0.00481	T	0.235139	0.60233	T	-0.421743	0.01668	T	-0.456568	0.26973	T	0.0750168487429619	0.09337	T	0.262774	0.04248	T	0.15437727	0.34945	0.065586284	0.13315	0.15437727	0.34945	0.065586284	0.13314	-3.333	0.14166	T	.	.	0.092	0.13362	B	.;.;.	.;.;.	0.740832	0.11100	7.750	0.64337870921716089	0.07466	0.01593	0.05177	N	AEFDBI	0.415812	0.48452	N	-1.29496000788605	0.03735	0.1674002	-1.48275867144057	0.02485	0.1143925	0.999985038763213	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.55458	0.18720	0	0.564101	0.26826	0	.	.	4.17	-8.32	0.00873	-0.371000	0.07569	-4.237000	0.02265	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.175:0.0:0.4158:0.4093	5.457	0.15894	846	0.36215	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1949.43	41	chr14	94563775	.	G	A	1949.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.4;DP=492;ExcessHet=0;FS=10.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-0.075;SOR=0.476	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr14	94622394	94622394	T	C	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon4:c.T971C:p.L324P,SERPINA3:NM_001384672:exon4:c.T971C:p.L324P,SERPINA3:NM_001384673:exon5:c.T971C:p.L324P,SERPINA3:NM_001384674:exon5:c.T971C:p.L324P	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.744	0.228620223338	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs771744525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.021	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.008616	0.30756	N	0.138902	1	0.81001	D	4.23	0.97958	H	-2.59	0.89822	D	-6.76	0.92736	D	0.89	0.89020	1.027	0.97666	D	0.896	0.96542	D	10	0.98785365	0.99173	D	0.22862	0.88146	D	0.744	0.91155	0.838	0.94479	0.990774516803	0.99067	0.9133171632010527	0.91305	0.0706069507822	0.07910	0.458704322577	0.33133	T	0.784691	0.94348	D	0.461126	0.92975	D	0.424599	0.92886	D	0.987004697322845	0.77589	D	0.526647	0.17353	T	0.97083473	0.98338	0.92233944	0.96562	0.97083473	0.98338	0.92233944	0.96563	-10.837	0.78756	D	0.7333714435569497	0.81513	0.721	0.76533	P	.;.;.;.	.;.;.;.	3.878883	0.56368	23.7	0.99714451142129035	0.81563	0.96174	0.67873	D	AEFBHCI	0.987770	0.99983	D	0.637291531387056	0.75548	6.325616	0.394311554711554	0.61214	4.318349	0.999999999952777	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	4.6	0.56512	7.619000	0.82253	5.868000	0.50503	0.665000	0.62972	0.995000	0.38783	0.964000	0.29435	0.004000	0.06068	0.0:0.0:0.0:1.0	12.962	0.57866	764	0.49969	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1822.43	34	chr14	94622394	.	T	C	1822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.715;DP=532;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.15;SOR=0.688	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr14	95203143	95203143	G	T	exonic	CLMN	.	nonsynonymous SNV	CLMN:NM_024734:exon9:c.C2206A:p.L736M	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.170819074721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.136	0.34009	T	0.998	0.73220	D	0.936	0.67150	D	0.005738	0.32555	N	0.000000	0.916325	0.27395	N	1.83	0.48079	L	-3.65	0.95179	D	-0.74	0.20791	N	0.376	0.41754	0.561	0.91375	D	0.827	0.94203	D	10	0.43437508	0.57697	T	0.170819	0.84827	D	0.462	0.75889	0.359	0.36222	0.890315468549	0.88923	0.278990113856985	0.27812	0.522592563707	0.49982	0.477104455233	0.35658	T	0.110141	0.42460	T	0.16414	0.70584	D	-0.00200095	0.70206	D	0.731449007987976	0.42285	D	0.862414	0.55771	D	0.10453786	0.24713	0.07230506	0.15584	0.10453786	0.24713	0.07230506	0.15583	-5.156	0.38491	T	.	.	0.284	0.51643	B	.	.	2.925003	0.38838	20.8	0.98639571568777651	0.44028	0.68078	0.33667	D	AEFBI	0.236675	0.35908	N	-0.155912050611275	0.34983	2.003717	-0.259672704568198	0.29440	1.649373	0.989851939321493	0.31956	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.16	0.988	0.18914	1.453000	0.34778	2.551000	0.33264	-0.681000	0.04224	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.2647:0.0:0.5024:0.2329	4.110	0.09526	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	964.43	38	chr14	95203143	.	G	T	964.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.866;DP=389;ExcessHet=0;FS=4.766;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.836;SOR=0.315	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	9	0	1	0
chr14	96264403	96264403	G	A	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.G721A:p.G241R	.	434	1052	36	0	0	36	0.0168224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0025	0.00359425	0.0062	0.0003	0.0017	0	0.0029	0.0052	0.0155	0.0213	0.0053363	825	154602	rs45528332	0.0038	0.0038	0.0031	0.0044	0.0195	0.0037	0.0036	0.0188	0.0184	0.0003	0.0021	0.0120	2.519e-05	0.0018	0.0052	0.0027	0.0040	0.0195	0.0036	0.0036	0.0035	0.0037	0.0207	0.0034	0.0033	0.0174	0.0162	0.0004	0	0.0011	0.0153	0.0002	0.0018	0.0068	0.0049	0.0043	0.0207	0.1	0.30515	T	0.693	0.05863	T	0.926	0.51467	P	0.297	0.40924	B	0.254390	0.15442	N	0.633849	1	0.25321	N	0.895	0.22405	L	-0.53	0.70833	T	-0.78	0.21644	N	0.103	0.08646	-0.9401	0.42600	T	0.150	0.47717	T	10	0.004887551	0.00104	T	.	.	.	0.172	0.43662	0.523	0.62668	0.671674792424	0.66890	0.17369235007743314	0.17289	0.406064420184	0.41486	0.302673399448	0.10801	T	0.073267	0.34657	T	-0.46555	0.00907	T	-0.425251	0.30476	T	0.00979771209445082	0.00129	T	0.586341	0.21412	T	0.07508437	0.16893	0.07595928	0.16776	0.07508437	0.16893	0.07595928	0.16776	-2.949	0.09642	T	.	.	0.120	0.24733	B	.;.	.;.	2.631070	0.34213	19.56	0.99684065869996952	0.79440	0.12662	0.17404	N	AEFGBCI	.	.	.	-0.344884559445541	0.27461	1.506785	-0.347014161319572	0.26601	1.470419	0.999995329122686	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	1.354000	0.33660	1.443000	0.26543	0.676000	0.76740	0.098000	0.22752	0.949000	0.28973	0.002000	0.04165	0.1869:0.0:0.8131:0.0	7.426	0.26275	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.000000	0.015244	0.030303	0.1	2292.12	34	chr14	96264403	.	G	A	2292.12	.	AC=2;AF=0.1;AN=20;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.71;SOR=1.022	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	1	0	0
chr14	96289721	96289721	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon41:c.C5941G:p.R1981G	.	431	1084	7	0	0	7	0.00321839	.	.	.	3208864	ATG2B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	0.0012	0.00119808	0.0021	0.0004	0.0011	0	0.0104	0.0016	0.0066	0.0033	0.0020698	320	154602	rs144991946	0.0024	0.0024	0.0024	0.0024	0.0032	0.0024	0.0023	0.0029	0.0028	0.0005	0.0018	0.0005	0	0.0087	0.0028	0.0023	0.0022	0.0032	0.0021	0.0021	0.0017	0.0025	0.0035	0.0019	0.0018	0.0028	0.0025	0.0002	0	0.0035	0.0006	0	0.0101	0	0.0019	0.0005	0.0023	0.08	0.33585	T	0.121	0.35840	T	0.0	0.02946	B	0.005	0.11217	B	0.000001	0.62929	D	0.058207	0.999921	0.51308	D	1.43	0.35840	L	2.75	0.11622	T	-2.72	0.57920	D	0.396	0.43706	-1.1116	0.02936	T	0.040	0.17106	T	10	0.007583976	0.00172	T	.	.	.	0.114	0.32008	.	.	0.398581233421	0.39469	0.7671691129578191	0.76665	0.777994176172	0.65131	0.425886392593	0.28646	T	0.048592	0.28061	T	-0.461557	0.00961	T	-0.435642	0.29297	T	0.04595755763844	0.04775	T	0.889011	0.61998	D	0.33667102	0.56013	0.35855058	0.61329	0.33667102	0.56013	0.35855058	0.61329	-4.972	0.36534	T	.	.	0.103	0.18331	B	.	.	3.385098	0.46838	22.4	0.99566488855538415	0.72136	0.89926	0.50716	D	AEFDBCI	0.595472	0.59001	D	0.124274289793113	0.47597	2.98319	0.290115838148042	0.54959	3.659774	0.999965603444838	0.48965	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	5.564000	0.67060	9.834000	0.81880	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	19.546	0.95287	976	0.04745	Autophagy-related, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	947.43	36	chr14	96289721	.	G	C	947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.81;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	9	0	1	0
chr14	96317153	96317153	C	T	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon20:c.G3202A:p.D1068N	.	470	1051	1	0	0	1	0.000475511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00418182233635	.	.	8.325e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs773665317	1.372e-06	1.368e-06	1.365e-06	1.379e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	6.54e-05	0	0	.	.	0	0	6.54e-05	0	0	0	0	0	0	0	0.21	0.19639	T	0.327	0.18732	T	0.001	0.07471	B	0.002	0.06944	B	0.058661	0.22384	U	0.410909	0.999	0.45657	D	0.915	0.23335	L	0.86	0.46777	T	-0.89	0.24026	N	0.168	0.17828	-1.0450	0.15825	T	0.124	0.42799	T	10	0.18644246	0.34109	T	0.004182	0.10058	T	0.141	0.37795	0.503	0.59615	0.61771375628	0.61462	0.2806587638739385	0.27978	0.679272497559	0.59930	0.468505144119	0.34474	T	0.003019	0.02422	T	-0.308757	0.07858	T	-0.681285	0.06906	T	0.62472403049469	0.37400	D	0.857114	0.54640	D	0.11165262	0.26382	0.101430275	0.24282	0.11165262	0.26382	0.101430275	0.24281	-7.92	0.60524	D	.	.	0.082	0.08754	B	.	.	3.428641	0.47640	22.5	0.99700880256478963	0.80591	0.91381	0.53419	D	AEFBI	0.305021	0.41255	N	0.0216860248727218	0.42842	2.589004	0.222983331954156	0.51124	3.297804	0.999999017538687	0.74766	0.562547	0.31514	0	0.601575	0.49859	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	4.140000	0.57795	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.122	0.97967	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	623.43	40	chr14	96317153	.	C	T	623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.201;SOR=0.797	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	9	0	1	0
chr14	99174861	99174861	C	T	exonic	BCL11B	.	nonsynonymous SNV	BCL11B:NM_001282238:exon3:c.G1759A:p.A587T,BCL11B:NM_022898:exon3:c.G1762A:p.A588T,BCL11B:NM_001282237:exon4:c.G1972A:p.A658T,BCL11B:NM_138576:exon4:c.G1975A:p.A659T	.	.	.	.	.	.	.	.	.	.	.	1596097	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.098	0.059654329093	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs759392301	6.245e-05	5.336e-05	5.927e-05	6.599e-05	0.0027	5.036e-05	4.593e-05	0.0021	0.0019	0.0027	0.0001	0	0	0	0	2.211e-06	0.0001	4.371e-05	0.0001	0.0001	0.0001	0.0002	0.0005	9.534e-05	7.946e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.016	0.53900	D	0.223	0.25670	T	0.848	0.46844	P	0.207	0.37187	B	0.767122	0.06575	N	1.139830	0.633085	0.34369	D	0.345	0.11182	N	2.91	0.10386	T	-0.8	0.22078	N	0.111	0.29889	-0.9079	0.47109	T	0.018	0.07659	T	10	0.17571843	0.32518	T	0.059654	0.67737	D	0.098	0.28162	0.322	0.30226	0.406687239423	0.40287	0.23851522579277298	0.23765	2.0033223038	0.93854	0.842996001244	0.88551	D	0.218924	0.58178	T	-0.529323	0.00388	T	-0.638428	0.09784	T	0.672470172527347	0.39448	D	0.877212	0.59013	D	0.22206113	0.44797	0.19547127	0.43226	0.22206113	0.44797	0.19547127	0.43225	-4.818	0.34800	T	.	.	0.086	0.18991	B	.;.;.	.;.;.	4.085921	0.60819	24.3	0.99012885666492356	0.50399	0.93898	0.59511	D	AEFDHCI	0.683353	0.64606	D	0.0605071341002535	0.44628	2.733313	0.163965120153051	0.47887	3.012242	0.99999997435875	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	3.79	3.79	0.42757	4.975000	0.63494	2.020000	0.30204	0.498000	0.22619	1.000000	0.71638	0.886000	0.27767	0.962000	0.52141	0.0:1.0:0.0:0.0	16.008	0.80174	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	116.45	23	chr14	99174861	.	C	T	116.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.82;DP=162;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.114;SOR=0.269	GT:AD:DP:GQ:PL	0/0:16,0:16:48:0,48,489	9	0	1	0
chr14	99458488	99458488	C	T	exonic	SETD3	.	nonsynonymous SNV	SETD3:NM_032233:exon6:c.G466A:p.A156T,SETD3:NM_199123:exon6:c.G466A:p.A156T	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00543674913488	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs745547818	2.052e-05	2.052e-05	1.225e-05	2.888e-05	0.0014	1.456e-05	1.264e-05	0.0007	0.0005	0	0	0	0	0	0.0014	8.093e-06	3.311e-05	0.0001	1.314e-05	1.313e-05	2.572e-05	0	2.409e-05	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	1.47e-05	0	0	0.814	0.04328	T	1.0	0.05128	T	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	N	0.053335	0.990497	0.41171	D	0.435	0.12660	N	2.57	0.13552	T	-0.04	0.13418	N	0.423	0.46835	-0.9895	0.32727	T	0.018	0.07329	T	10	0.16297382	0.30529	T	0.005437	0.13984	T	0.081	0.23632	0.601	0.73226	0.233785782151	0.22967	0.20279376832046783	0.20196	0.358468695474	0.37561	0.435408115387	0.29949	T	0.033838	0.23080	T	-0.370099	0.03588	T	-0.58787	0.13850	T	0.100845389068127	0.12449	T	0.858514	0.56452	D	0.16963698	0.37491	0.106078304	0.25511	0.16963698	0.37491	0.106078304	0.25511	-1.977	0.05962	T	.	.	0.065	0.05979	B	.;.;.	.;.;.	1.801389	0.22893	15.80	0.25510107448965796	0.01179	0.53276	0.29332	D	AEFBI	0.078740	0.15893	N	-0.55026294065675	0.20476	1.079648	-0.407547284250012	0.24776	1.358626	0.999672722657413	0.41644	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.37	3.25	0.36363	2.638000	0.46228	3.439000	0.38368	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.1517:0.0:0.8483	7.141	0.24735	987	0.02648	SET domain|SET domain;.;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	575.43	34	chr14	99458488	.	C	T	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=1.56;SOR=0.598	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1221	9	0	1	0
chr14	99517165	99517165	G	C	exonic	CCDC85C	.	nonsynonymous SNV	CCDC85C:NM_001144995:exon4:c.C994G:p.P332A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0105401181414	.	0.00119808	0.0001	0.0015	0	0	0	0	0	0	5.17e-05	8	154602	rs142316560	5.443e-05	5.199e-05	4.804e-05	6.099e-05	0.0016	4.458e-05	4.07e-05	0.0012	0.0011	0.0016	2.814e-05	0	0	0	0.0002	9.277e-06	0.0002	2.531e-05	0.0001	0.0001	0.0001	8.06e-05	0.0004	6.509e-05	5.321e-05	0.0002	0.0002	0.0004	0	0	0	0	0	0	1.47e-05	0	0	0.472	0.25457	T	0.417	0.15602	T	0.005	0.12996	B	0.004	0.10090	B	0.777015	0.09501	U	0.853776	1	0.81001	D	0.835	0.21042	L	.	.	.	-1.6	0.79399	N	0.201	0.22228	-1.0876	0.05943	T	0.046	0.19720	T	9	0.011399537	0.00249	T	0.01054	0.27195	T	0.136	0.36778	.	.	0.0401082797425	0.02173	0.2537057096333867	0.25284	.	.	0.461475104094	0.33512	T	0.004632	0.36945	T	-0.421038	0.01684	T	-0.456829	0.26945	T	0.0072513059443961	0.00083	T	0.480552	0.16985	T	0.04829186	0.08393	0.058163404	0.10699	0.04829186	0.08392	0.058163404	0.10698	-3.767	0.20312	T	.	.	0.050	0.00264	B	.;.;.	.;.;.	1.687842	0.21508	15.23	0.69095217427501854	0.08863	0.52676	0.29189	D	AEFDGBHCI	0.109426	0.21735	N	-0.766122471068547	0.14199	0.7053942	-0.622856841967127	0.18907	1.012086	0.999999382921946	0.74766	0.631981	0.41245	0	0.550933	0.16991	0	0.779548	0.98927	0	0.655142	0.61905	0	.	.	4.35	3.43	0.38372	1.286000	0.32877	1.482000	0.26828	-0.192000	0.09343	0.866000	0.30720	0.911000	0.28135	0.058000	0.15825	0.0:0.1967:0.8033:0.0	13.865	0.63085	980	0.04108	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	604.43	35	chr14	99517165	.	G	C	604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-2.235;SOR=0.579	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1117	9	0	1	0
chr14	100292522	100292522	C	G	exonic	SLC25A29	.	nonsynonymous SNV	SLC25A29:NM_152333:exon3:c.G475C:p.A159P,SLC25A29:NM_001039355:exon4:c.G673C:p.A225P,SLC25A29:NM_001291813:exon5:c.G475C:p.A159P,SLC25A29:NM_001291814:exon5:c.G475C:p.A159P,SLC25A29:NM_001352821:exon5:c.G832C:p.A278P,SLC25A29:NM_001352822:exon5:c.G475C:p.A159P,SLC25A29:NM_001352823:exon6:c.G475C:p.A159P,SLC25A29:NM_001352820:exon7:c.G475C:p.A159P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0473912901086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1462660253	1.39e-06	1.368e-06	2.761e-06	0	2.422e-05	2.3e-07	9e-08	.	.	0	2.422e-05	0	0	0	0	9.071e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281	0.15458	T	0.272	0.22223	T	0.006	0.13644	B	0.007	0.12992	B	0.001680	0.38326	N	0.254984	0.999631	0.47961	D	-0.1	0.04694	N	-1.23	0.78860	T	-0.86	0.23372	N	0.1	0.14054	-0.9752	0.36082	T	0.146	0.46950	T	10	0.06457734	0.08585	T	0.047391	0.62902	D	0.172	0.43662	0.598	0.72862	0.213573922156	0.20996	0.8496762416026642	0.84929	0.375175560987	0.38974	0.309043616056	0.11763	T	0.130788	0.45989	T	-0.189345	0.22355	T	-0.406814	0.32592	T	0.0569382086396217	0.06679	T	0.580242	0.20999	T	0.12809126	0.29957	0.11344625	0.27379	0.12809126	0.29956	0.11344625	0.27378	-5.152	0.38450	T	.	.	0.067	0.02639	B	.;.;.;.	.;.;.;.	1.195159	0.15865	12.16	0.85315588186158609	0.15817	0.27410	0.23269	N	AEFDBI	0.423593	0.48911	N	-1.26253036951757	0.04137	0.1861283	-1.2104844403151	0.05741	0.2743835	0.998820491647473	0.37755	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.62	0.514	0.16206	0.205000	0.17154	-0.511000	0.08745	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.6115:0.1178:0.2707	6.640	0.22096	964	0.07719	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	52.64	40	chr14	100292522	.	C	G	52.64	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.794;DP=626;ExcessHet=0;FS=116.133;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=1.91;SOR=5.889	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:72,0:72:0:.:.:0,0,1217:.	3	0	1	6
chr14	100329038	100329038	C	T	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_001350877:exon5:c.C202T:p.R68W,SLC25A47:NM_207117:exon5:c.C640T:p.R214W	.	422	1092	8	0	0	8	0.00364964	.	.	.	2807242	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.292	.	0.0033	0.00279553	0.0045	0.0006	0.0013	0.0004	0.0169	0.0053	0.0048	0.0032	0.0040814	631	154602	rs149283899	0.0045	0.0046	0.0044	0.0046	0.0089	0.0044	0.0044	0.0069	0.0062	0.0006	0.0017	0.0018	0.0003	0.0153	0.0089	0.0046	0.0039	0.0040	0.0038	0.0038	0.0032	0.0044	0.0045	0.0035	0.0034	0.0041	0.0039	0.0008	0	0.0014	0.0014	0.0002	0.0167	0.0102	0.0045	0.0033	0.0031	0.014	0.53172	D	0.015	0.61642	D	0.99	0.63424	D	0.659	0.52771	P	0.209982	0.16389	N	0.655295	0.999609	0.21886	N	2.14	0.59869	M	-1.21	0.78645	T	-2.87	0.60348	D	0.214	0.24010	-0.6530	0.62583	T	0.275	0.64722	T	10	0.008070886	0.00183	T	.	.	.	0.292	0.61157	.	.	0.713213672773	0.71070	0.5117693319778596	0.51098	0.625602768882	0.56732	0.264423131943	0.05429	T	0.041428	0.25853	T	-0.339582	0.05417	T	-0.259058	0.48918	T	0.0271329905904209	0.01563	T	0.719828	0.33277	T	0.24349463	0.47289	0.24505222	0.49984	0.24349463	0.47289	0.24505222	0.49983	-7.055	0.54435	T	.	.	0.093	0.22318	B	.;.	.;.	4.469724	0.69640	25.4	0.99908386432620599	0.97875	0.69346	0.34152	D	AEFDBHCI	0.938240	0.93715	D	0.0924172043808188	0.46109	2.856489	0.0618605294313406	0.42649	2.583331	0.999999949913218	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.89	3.93	0.44666	1.701000	0.37444	1.669000	0.27944	0.549000	0.26987	0.958000	0.33488	0.238000	0.23831	0.032000	0.13371	0.2556:0.7444:0.0:0.0	12.511	0.55351	933	0.16026	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005544	0.000000	0.008152	0.014706	0.000000	0.008621	0.000000	0.003788	0.05	977.43	37	chr14	100329038	.	C	T	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.08;ReadPosRankSum=1.33;SOR=0.689	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	9	0	1	0
chr14	100881437	100881437	G	A	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.C3352T:p.P1118S	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0223086008605	.	.	0.0008	0	0	0	0	0.0003	0	0.0018	0.0001552	24	154602	rs371727033	0.0003	0.0003	0.0003	0.0004	0.0067	0.0003	0.0003	0.0050	0.0044	0.0002	0.0004	0.0001	2.798e-05	0	0.0067	0.0002	0.0006	0.0022	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0001	0.0008	0.0006	2.405e-05	0	0.0004	0.0003	0	0	0.0034	0.0002	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.987634	0.24496	N	1.7	0.43825	L	1.68	0.27184	T	-5.14	0.83292	D	0.248	0.28028	-1.0784	0.07661	T	0.092	0.35228	T	9	0.03666666	0.01978	T	0.022309	0.45185	T	0.069	0.20116	.	.	0.542764462858	0.53929	0.7246781867612822	0.72411	0.760933052735	0.64261	0.389236688614	0.23563	T	0.536222	0.84039	D	-0.461609	0.00960	T	-0.449076	0.27799	T	0.180993929591221	0.19297	T	0.489851	0.15048	T	0.29284504	0.52256	0.44669738	0.67775	0.29284504	0.52256	0.44669738	0.67775	-3.828	0.21223	T	.	.	0.116	0.26607	B	.;.	.;.	2.832361	0.37348	20.5	0.99802878321992239	0.88728	0.90123	0.51056	D	AEFDBI	.	.	.	0.217158434969505	0.52031	3.379929	0.112501460012062	0.45187	2.786348	0.995388041244918	0.34098	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.11	3.11	0.34883	3.061000	0.49656	3.628000	0.39306	0.618000	0.50648	0.994000	0.38300	0.989000	0.31174	0.515000	0.29359	0.0:0.0:1.0:0.0	9.951	0.40806	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005365	0.000000	0.011765	0.013514	0.000000	0.027778	0.000000	0.000000	0.05	1216.43	37	chr14	100881437	.	G	A	1216.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.596;DP=431;ExcessHet=0;FS=2.707;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.869;SOR=0.613	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1376	9	0	1	0
chr14	100881449	100881449	G	A	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.C3340T:p.R1114W	.	422	1089	11	0	0	11	0.00502513	.	.	.	713999	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0136121142724	.	0.00299521	0.0037	0	0	0	0.0087	0.0061	0.0088	0.0015	0.0011125	172	154602	rs143429892	0.0077	0.0073	0.0078	0.0075	0.0089	0.0075	0.0075	0.0087	0.0087	0.0014	0.0035	0.0023	0	0.0079	0.0056	0.0089	0.0061	0.0018	0.0051	0.0051	0.0053	0.0048	0.0072	0.0048	0.0047	0.0067	0.0065	0.0016	0	0.0061	0.0020	0	0.0090	0.0170	0.0072	0.0052	0.0010	0.01	0.56456	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	1.9	0.23486	T	-1.11	0.28703	N	0.147	0.14905	-1.0577	0.12337	T	0.019	0.08033	T	9	0.0048611164	0.00104	T	0.013612	0.33144	T	0.051	0.14325	.	.	0.134241683229	0.13084	0.5111866106545447	0.51040	0.621706145439	0.56448	0.39105463028	0.23818	T	0.108363	0.42134	T	-0.6636	0.00060	T	-0.719453	0.04823	T	0.0287298516904001	0.01797	T	0.383462	0.09368	T	0.04444258	0.07103	0.04908906	0.07429	0.04444258	0.07103	0.04908906	0.07428	-5.207	0.39013	T	.	.	0.109	0.21653	B	.;.	.;.	2.128410	0.27094	17.35	0.99193184675214408	0.55053	0.02484	0.06956	N	AEFDBI	.	.	.	-0.917718137765063	0.10427	0.4982521	-0.973891674211327	0.10373	0.5220721	0.0304187188426178	0.13942	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.11	-0.166	0.12697	-0.623000	0.05643	-0.103000	0.11918	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.147000	0.20199	0.0:0.6391:0.3609:0.0	11.396	0.49079	842	0.36989	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002174	0.000000	0.005814	0.004425	0.000000	0.000000	0.005435	0.000000	0.05	1531.43	37	chr14	100881449	.	G	A	1531.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=500;ExcessHet=0;FS=3.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=1.07;SOR=0.549	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1376	9	0	1	0
chr14	100881887	100881887	C	T	exonic	RTL1	.	nonsynonymous SNV	RTL1:NM_001134888:exon4:c.G2902A:p.G968R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0165229697068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	1.362e-06	2.751e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	.	.	.	.	.	.	0.003440	0.34958	N	0.000000	0.776714	0.29378	N	2.095	0.58118	M	1.04	0.40218	T	-1.81	0.42575	N	0.773	0.77039	-1.0681	0.09836	T	0.062	0.25672	T	10	0.4107747	0.56209	T	0.016523	0.37815	T	0.206	0.49396	0.588	0.71623	0.42886291518	0.42503	0.7769279840723113	0.77642	1.72699174565	0.90668	0.634285926819	0.57753	T	0.091696	0.38850	T	-0.00586839	0.50843	T	-0.246206	0.50191	T	0.913565218448639	0.56988	D	0.668433	0.27736	T	0.11301887	0.26695	0.1802549	0.40814	0.11301887	0.26695	0.1802549	0.40813	-3.142	0.11785	T	.	.	0.889	0.82761	P	.;.	.;.	4.685857	0.75034	26.3	0.99909758860145725	0.97949	0.55066	0.29771	D	AEFDBI	0.281527	0.39508	N	0.117483747959841	0.47279	2.95581	0.15039616926967	0.47162	2.950687	0.258787706806839	0.18766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.39	3.39	0.37919	1.440000	0.34634	6.859000	0.56758	0.599000	0.40250	0.044000	0.21163	1.000000	0.68203	0.982000	0.59238	0.0:0.8747:0.0:0.1253	6.746	0.22650	842	0.36989	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1815.43	37	chr14	100881887	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=611;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=2.38;SOR=0.742	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,101,1376	9	0	1	0
chr14	102081741	102081741	C	T	exonic	HSP90AA1	.	nonsynonymous SNV	HSP90AA1:NM_005348:exon11:c.G2170A:p.D724N,HSP90AA1:NM_001017963:exon12:c.G2536A:p.D846N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.0561133232141	.	0.000199681	5.766e-05	0	0	0	0	0	0	0.0004	5.17e-05	8	154602	rs563025620	2.243e-05	3.216e-05	1.679e-05	2.809e-05	0.0003	1.623e-05	1.389e-05	0.0002	0.0002	0	0	0	0	0	0	6.481e-06	1.692e-05	0.0003	6.569e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.103	0.44501	T	0.938	0.61523	P	0.745	0.55870	P	0.000000	0.84330	U	0.000000	1	0.81001	D	2.35	0.67516	M	2.94	0.09728	T	-0.98	0.36586	N	0.402	0.44283	-0.9297	0.44183	T	0.080	0.31705	T	10	0.19364935	0.35143	T	0.056113	0.66485	D	0.227	0.52620	0.436	0.48828	0.597248352152	0.59404	0.31242983485803016	0.31155	.	.	0.812716007233	0.83908	D	0.191822	0.54679	T	-0.371641	0.03512	T	-0.471289	0.25378	T	0.336618556582453	0.26489	T	0.89921	0.64678	D	0.7387323	0.80219	0.48543546	0.70216	0.7387323	0.80221	0.48543546	0.70217	-8.241	0.64217	D	.	.	0.541	0.75701	A	.;.	.;.	4.208147	0.63560	24.6	0.99914501770756137	0.98309	0.95244	0.63973	D	AEFDBCI	0.853170	0.77011	D	0.54861109201857	0.69998	5.437352	0.479157730596112	0.66610	4.974623	0.999999999999997	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.21	4.21	0.48984	5.603000	0.67304	2.152000	0.30918	0.376000	0.20365	1.000000	0.71638	0.973000	0.29867	0.786000	0.37147	0.0:1.0:0.0:0.0	16.930	0.86058	840	0.37365	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	98.43	33	chr14	102081741	.	C	T	98.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.226;DP=440;ExcessHet=0;FS=49.053;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.86;ReadPosRankSum=0.56;SOR=6.09	GT:AD:DP:GQ:PL	0/0:52,0:52:24:0,24,845	9	0	1	0
chr14	102425158	102425158	G	A	exonic	TECPR2	.	nonsynonymous SNV	TECPR2:NM_001172631:exon6:c.G818A:p.R273H,TECPR2:NM_014844:exon6:c.G818A:p.R273H	Spastic paraplegia 49, autosomal recessive, Autosomal recessive	433	1082	5	0	2	7	0.00230521	.	.	.	957149	not_provided|Hereditary_spastic_paraplegia_49|Hereditary_spastic_paraplegia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014016,MedGen:C3542549,OMIM:615031,Orphanet:320385|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.191	0.0292805567542	0.0002	0.000199681	0.0001	0	0.0007	0	0	0.0001	0	0	0.0001488	23	154602	rs144069125	0.0001	0.0001	0.0001	0.0001	0.0045	0.0001	9.7e-05	0.0032	0.0027	0	0.0004	0	0	0	0.0045	8.723e-05	0.0003	0.0001	0.0001	0.0001	0.0001	9.406e-05	0.0004	7.578e-05	6.282e-05	0.0001	8.289e-05	2.409e-05	0	0.0003	0	0	0	0.0034	0.0001	0	0.0004	0.043	0.61437	D	0.112	0.37310	T	0.984	0.60733	D	0.651	0.52497	P	0.000001	0.62929	D	0.100359	0.99643	0.43202	D	2.52	0.73523	M	1.81	0.25182	T	-2.58	0.57762	D	0.547	0.59053	-0.9893	0.32778	T	0.122	0.42251	T	10	0.17143491	0.31862	T	0.029281	0.51816	D	0.191	0.46948	.	.	0.117191471859	0.11215	0.44782650799093193	0.44700	0.446009560045	0.44480	0.514968752861	0.40918	T	0.03422	0.23234	T	-0.246714	0.14506	T	-0.290442	0.45727	T	0.156303292988129	0.17594	T	0.913509	0.69206	D	0.19741964	0.41606	0.15997656	0.37283	0.19741964	0.41606	0.15997656	0.37283	-5.555	0.42379	T	.	.	0.135	0.29394	B	.;.	.;.	5.180758	0.86860	29.0	0.9986930694777858	0.94726	0.97829	0.77440	D	AEFBI	0.747166	0.68931	D	0.360124175509674	0.59275	4.105726	0.279366989539054	0.54337	3.598917	0.999748169563701	0.42466	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.27	5.27	0.73797	8.383000	0.90045	11.703000	0.94531	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.091000	0.17840	0.0:0.0:1.0:0.0	18.939	0.92571	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1798.43	34	chr14	102425158	.	G	A	1798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.086;DP=420;ExcessHet=0;FS=2.542;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.92;ReadPosRankSum=1.29;SOR=0.478	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	9	0	1	0
chr14	102930661	102930661	-	GGCCGA	exonic	AMN	.	stoploss	AMN:NM_030943:exon12:c.1343_1344insGGCCGA:p.*454delinsEA*	Megaloblastic anemia-1, Norwegian type, Autosomal recessive	0	1519	1	0	2	3	0.000329056	.	.	.	688244	Imerslund-Grasbeck_syndrome	MONDO:MONDO:0009853,MedGen:C4551825,OMIM:PS261100,Orphanet:35858	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0003	0.0003	0	0	0.0008	0	0.0002	3.84e-05	1	26028	rs763564473	0.0003	0.0003	0.0003	0.0003	0.0015	0.0003	0.0002	0.0007	0.0005	0.0002	0.0002	0.0039	0	1.997e-05	0.0015	0.0002	0.0006	0.0004	0.0003	0.0003	0.0002	0.0003	0.0003	0.0002	0.0002	0.0001	0.0001	0.0001	0	0.0003	0.0026	0	0	0.0034	0.0002	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	409.39	60	chr14	102930661	.	G	GGGCCGA	409.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.152;DP=515;ExcessHet=0;FS=6.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.822;SOR=0.132	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1188	9	0	1	0
chr14	103127397	103127397	G	A	exonic	TNFAIP2	.	nonsynonymous SNV	TNFAIP2:NM_001371220:exon3:c.G628A:p.A210T,TNFAIP2:NM_001371221:exon3:c.G628A:p.A210T,TNFAIP2:NM_006291:exon3:c.G628A:p.A210T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0144292925837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.896	0.02448	T	0.189	0.28575	T	0.017	0.17573	B	0.002	0.06944	B	0.995122	0.07928	N	1.002150	0.999998	0.08975	N	0.55	0.14455	N	3.25	0.06762	T	-0.28	0.11547	N	0.024	0.00445	-0.8878	0.49122	T	0.008	0.02842	T	10	0.045698076	0.03670	T	0.014429	0.34542	T	0.029	0.06676	0.529	0.63560	0.262662153117	0.25859	0.1312081441457143	0.13045	0.284083675764	0.30837	0.734533667564	0.72169	T	0.052113	0.29070	T	-0.426009	0.01567	T	-0.849709	0.00963	T	0.0674309937454317	0.08286	T	0.454055	0.12934	T	0.061948456	0.12884	0.046804074	0.06605	0.061948456	0.12884	0.046804074	0.06604	-5.222	0.39165	T	.	.	0.075	0.05668	B	.;.	.;.	0.473340	0.08429	5.186	0.91746114212185936	0.21045	0.06794	0.12817	N	AEFDBCI	0.067557	0.13287	N	-1.93389052314483	0.00292	0.01254013	-1.92380449782973	0.00439	0.01942424	0.999999423891318	0.74766	0.72623	0.87236	0	0.709663	0.81188	0	0.594344	0.31042	0	0.604282	0.37693	0	.	.	3.61	-2.08	0.06852	-1.823000	0.01804	-0.114000	0.11796	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.1997:0.287:0.3778:0.1355	2.001	0.03256	636	0.64483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	516.43	33	chr14	103127397	.	G	A	516.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=343;ExcessHet=0;FS=4.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.573;SOR=1.781	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,112,978	9	0	1	0
chr14	103560308	103560308	A	T	exonic	BAG5	.	nonsynonymous SNV	BAG5:NM_001015048:exon2:c.T857A:p.M286K,BAG5:NM_001015049:exon2:c.T980A:p.M327K,BAG5:NM_004873:exon2:c.T857A:p.M286K	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.051361417751	.	.	1.648e-05	0	0	0	0	1.499e-05	0	6.057e-05	1.94e-05	3	154602	rs746911735	1.437e-05	1.436e-05	8.167e-06	2.063e-05	0.0002	9.23e-06	7.84e-06	8.885e-05	7.053e-05	0	0	0	0	0	0.0002	4.496e-06	3.311e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.65419	D	0.077	0.43344	T	0.273	0.39027	B	0.099	0.34953	B	0.009483	0.30337	N	0.372679	0.970817	0.38825	D	1.04	0.26193	L	-2.35	0.88066	D	-0.54	0.16598	N	0.591	0.79022	-0.1605	0.78658	T	0.408	0.75748	T	10	0.67923856	0.71179	D	0.051361	0.64631	D	0.515	0.79279	0.711	0.84691	0.916978880456	0.91614	0.7852979086508344	0.78480	0.444914128697	0.44388	0.68313062191	0.64717	T	0.400012	0.75770	T	-0.0704427	0.41256	T	-0.0646628	0.66005	T	0.167654608919238	0.18419	T	0.668433	0.27736	T	0.503176	0.67281	0.31191763	0.57196	0.503176	0.67282	0.31191763	0.57196	-7.896	0.60359	D	.	.	0.251	0.59471	B	.;.;.	.;.;.	3.173633	0.43051	21.7	0.95147617487455671	0.26277	0.98786	0.86836	D	AEFBI	0.523416	0.54703	D	0.0410729667422466	0.43733	2.66049	0.204447115440725	0.50094	3.205069	0.999996736205082	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.65	4.52	0.54797	4.892000	0.62883	4.126000	0.42002	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8534:0.0:0.1466:0.0	8.371	0.31578	835	0.38313	BAG domain|BAG domain|BAG domain;BAG domain|BAG domain|BAG domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1917.43	39	chr14	103560308	.	A	T	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=489;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.005;SOR=0.642	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1248	9	0	1	0
chr14	103753181	103753181	C	T	exonic	PPP1R13B	.	nonsynonymous SNV	PPP1R13B:NM_015316:exon7:c.G647A:p.R216K	.	453	1066	3	0	0	3	0.00140515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00574671624079	.	0.000199681	0.0001	0.0001	0	0	0	4.497e-05	0	0.0005	9.7e-05	15	154602	rs546019557	0.0001	9.987e-05	7.365e-05	0.0001	0.0018	8.661e-05	8.149e-05	0.0009	0.0006	0	0	0	0	0	0.0018	6.748e-05	0.0002	0.0006	9.862e-05	9.847e-05	6.432e-05	0.0001	0.0012	6.01e-05	4.883e-05	0.0005	0.0004	0	0	6.541e-05	0	0	0	0	0.0001	0	0.0012	0.066	0.36113	T	0.23	0.25135	T	0.07	0.23866	B	0.027	0.21085	B	0.000016	0.62929	D	0.116084	0.955606	0.26328	N	0	0.06538	N	1.65	0.27650	T	-0.15	0.09297	N	0.304	0.34336	-1.0847	0.06462	T	0.048	0.20434	T	10	0.04164663	0.02839	T	0.005747	0.14922	T	0.050	0.13987	0.346	0.34112	0.448695639987	0.44491	0.06591541450552085	0.06530	0.404440091156	0.41344	0.402807980776	0.25460	T	0.140242	0.47468	T	-0.409457	0.02004	T	-0.483202	0.24106	T	0.0494841350301035	0.05409	T	0.952605	0.81930	D	0.07792357	0.17715	0.087557025	0.20360	0.07792357	0.17715	0.087557025	0.20359	-5.086	0.37759	T	.	.	0.115	0.25298	B	.;.	.;.	3.906063	0.56931	23.8	0.97075276532295884	0.32255	0.68209	0.33716	D	AEFDGBCI	0.349698	0.44340	N	0.0596569508014318	0.44587	2.730094	0.266131168522287	0.53573	3.525501	0.999999997061895	0.74766	0.730579	0.87903	0	0.633656	0.55848	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.74	5.74	0.90070	5.752000	0.68375	7.548000	0.60216	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.8037:0.0:0.1963	7.521	0.26797	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1264.43	36	chr14	103753181	.	C	T	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.765;DP=383;ExcessHet=0;FS=5.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.81;ReadPosRankSum=-0.41;SOR=0.293	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1109	9	0	1	0
chr14	104941264	104941264	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A13887G:p.I4629M,AHNAK2:NM_138420:exon7:c.A14187G:p.I4729M	.	428	1066	28	0	0	28	0.012963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0005	0.00259585	0.0027	0.0001	0.0010	0	0	0.0004	0.0089	0.0166	0.0022121	342	154602	rs182857858	0.0014	0.0014	0.0009	0.0020	0.0167	0.0014	0.0014	0.0160	0.0157	0.0001	0.0004	3.826e-05	0	0	0.0075	0.0004	0.0013	0.0167	0.0008	0.0008	0.0007	0.0010	0.0149	0.0007	0.0007	0.0121	0.0111	0.0002	0	0.0008	0.0003	0	0	0	0.0005	0.0005	0.0149	0.132	0.26519	T	0.02	0.58613	D	0.145	0.27759	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.36	0.05918	T	-1.08	0.28084	N	0.107	0.09207	-0.9623	0.38742	T	0.007	0.02478	T	9	0.0034912825	0.00062	T	.	.	.	0.070	0.20419	.	.	0.0138822411134	0.00435	0.015849689489337817	0.01540	.	.	0.252390891314	0.04023	T	0.024125	0.18290	T	-0.726243	0.00025	T	-0.802348	0.01844	T	0.00760406410384063	0.00088	T	0.222078	0.02867	T	0.079244554	0.18093	0.053880945	0.09161	0.079244554	0.18093	0.053880945	0.09161	-3.301	0.13750	T	.	.	0.080	0.07985	B	.	.	-0.033768	0.04055	0.940	0.95836662611001833	0.27952	0.00239	0.01331	N	AEFGBI	.	.	.	-1.4926381712014	0.01901	0.08343875	-1.62574634165268	0.01506	0.06819093	0.999216844484621	0.38775	0.67177	0.52595	0	0.588066	0.40923	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	2.15	-4.31	0.03443	-3.192000	0.00623	-1.085000	0.06377	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3665:0.1482:0.211:0.2743	0.253	0.00193	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.005051	0.001359	0.000000	0.000000	0.000000	0.012195	0.011364	0.05	1756.43	140	chr14	104941264	.	T	C	1756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.65;DP=1230;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.652;SOR=0.616	GT:AD:DP:GQ:PL	0/0:100,0:100:99:0,120,1800	9	0	1	0
chr14	104943978	104943978	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T11173A:p.S3725T,AHNAK2:NM_138420:exon7:c.T11473A:p.S3825T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00507041691968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	1.368e-06	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.17	0.30436	T	0.531	0.37720	P	0.215	0.37512	B	.	.	.	.	1	0.08975	N	2.36	0.67893	M	5.76	0.00695	T	-1.39	0.34397	N	0.049	0.02088	-0.9811	0.34748	T	0.004	0.01192	T	9	0.084768325	0.14240	T	0.00507	0.12846	T	0.044	0.11924	0.279	0.23323	0.0138822411134	0.00435	0.007114887581674972	0.00678	.	.	0.22748067975	0.01786	T	0.03128	0.21970	T	-0.343869	0.05124	T	-0.731721	0.04250	T	0.132090462540271	0.15574	T	0.305069	0.05837	T	0.03729235	0.04752	0.04531492	0.06070	0.03729235	0.04751	0.04531492	0.06069	-8.683	0.65635	D	.	.	0.091	0.12985	B	.	.	-0.108022	0.03593	0.702	0.44763095369072292	0.03465	0.01063	0.03945	N	AEFBI	.	.	.	-1.09147846896646	0.06799	0.3140354	-1.31031036830696	0.04296	0.2023314	0.00307342311266003	0.09909	0.706548	0.73137	0	0.588066	0.40923	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.53	-5.26	0.02559	-0.611000	0.05718	-11.807000	0.00574	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1879:0.4713:0.2339:0.1069	3.966	0.08924	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	158.43	320	chr14	104943978	.	A	T	158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=3294;ExcessHet=0;FS=27.139;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.87;MQRankSum=-22.93;QD=0.3;ReadPosRankSum=-6.28;SOR=4.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:322,0:322:99:.:.:0,120,1800:.	9	0	1	0
chr14	104944175	104944175	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10976T:p.A3659V,AHNAK2:NM_138420:exon7:c.C11276T:p.A3759V	.	433	1058	31	0	0	31	0.0144388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.024738690492	.	.	4.977e-05	0.0001	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs762470858	3.971e-05	7.868e-05	3.542e-05	4.404e-05	0.0002	3.115e-05	2.849e-05	3.767e-05	2.755e-05	2.992e-05	0	0	0	0	0.0002	4.049e-05	6.632e-05	8.12e-05	4.058e-05	0.0014	5.287e-05	2.77e-05	0.0001	1.757e-05	1.157e-05	4.944e-05	3.19e-05	0.0001	0	0	0	0	0	0	1.489e-05	0	0	0.028	0.46129	D	0.063	0.45110	T	0.012	0.16265	B	0.01	0.14941	B	0.299966	0.03948	U	1.840710	1	0.08975	N	0.205	0.09354	N	5.83	0.00652	T	-2.56	0.55339	D	0.069	0.04188	-0.9045	0.47504	T	0.003	0.00929	T	10	0.06377372	0.08357	T	0.024739	0.47726	T	0.037	0.09474	.	.	0.0138822411134	0.00435	0.004746779182261101	0.00447	.	.	0.167820572853	0.00025	T	0.024804	0.18673	T	-0.539558	0.00337	T	-0.738514	0.03953	T	0.0586531829207644	0.06954	T	0.236476	0.03296	T	0.04050458	0.05794	0.058473505	0.10811	0.04050458	0.05794	0.058473505	0.10811	-1.868	0.02720	T	.	.	0.092	0.13362	B	.	.	-0.717969	0.01279	0.067	0.97329653179763331	0.33418	0.02806	0.07531	N	AEFBI	.	.	.	-1.08578588282399	0.06905	0.319191	-1.17118712972313	0.06395	0.3077083	1.61262701251638E-4	0.05721	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.13	-1.91	0.07225	-0.804000	0.04641	-20.000000	0.00162	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5597:0.1748:0.2655:0.0	4.779	0.12563	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1421.14	294	chr14	104944175	.	G	A	1421.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.27;DP=2826;ExcessHet=0.2348;FS=24.688;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.77;MQRankSum=-16.74;QD=1.79;ReadPosRankSum=-2.156;SOR=3.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800:.	8	0	2	0
chr14	104944178	104944178	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10973G:p.T3658R,AHNAK2:NM_138420:exon7:c.C11273G:p.T3758R	.	433	1072	17	0	0	17	0.00786673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00946792399026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1183612492	2.053e-06	3.215e-05	1.362e-06	2.752e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.996e-07	0	2.32e-05	6.766e-06	0.0012	1.322e-05	0	2.543e-05	0	0	.	.	2.543e-05	0	0	0	0	0	0	0	0	0	0.556	0.06461	T	0.654	0.06643	T	0.017	0.17573	B	0.008	0.13708	B	0.045649	0.01949	U	4.017220	1	0.08975	N	1.095	0.27400	L	4.71	0.01655	T	-0.41	0.14000	N	0.087	0.06454	-0.8847	0.49382	T	0.008	0.02679	T	10	0.055714905	0.06134	T	0.009468	0.24809	T	0.032	0.07718	0.229	0.15556	0.0138822411134	0.00435	0.004878085995868745	0.00459	.	.	0.215819358826	0.01082	T	0.020774	0.16293	T	-0.314783	0.07334	T	-0.689941	0.06392	T	0.0369846471797902	0.03153	T	0.308469	0.05950	T	0.026394365	0.01691	0.034579005	0.02549	0.026394365	0.01691	0.034579005	0.02549	-6.347	0.49094	T	.	.	0.087	0.11172	B	.	.	-0.339081	0.02450	0.281	0.62540945077157595	0.06989	0.01830	0.05681	N	AEFBI	.	.	.	-1.28187589143296	0.03893	0.1747631	-1.36185924592355	0.03668	0.1715764	1.3216691354537E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.4	-1.33	0.08693	-1.086000	0.03497	-20.000000	0.00162	-1.018000	0.01743	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0856:0.3845:0.4154:0.1145	5.487	0.16046	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1160.14	294	chr14	104944178	.	G	C	1160.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=6.3;DP=2808;ExcessHet=0.2348;FS=24.572;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.78;MQRankSum=-16.36;QD=1.5;ReadPosRankSum=-2.416;SOR=3.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800:.	8	0	2	0
chr14	104944187	104944187	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10964T:p.A3655V,AHNAK2:NM_138420:exon7:c.C11264T:p.A3755V	.	432	1078	12	0	0	12	0.00553506	.	.	.	2371904	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00404983418982	.	0.000199681	0.0003	0.0002	0.0009	0	0	0.0004	0	6.056e-05	0.0002846	44	154602	rs201313753	0.0006	0.0006	0.0006	0.0006	0.0008	0.0005	0.0005	0.0007	0.0006	8.969e-05	0.0008	3.827e-05	0	0	0	0.0007	0.0004	6.957e-05	0.0004	0.0012	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0004	0	0	0.181	0.21884	T	0.199	0.27679	T	0.012	0.16265	B	0.005	0.11217	B	0.002864	0.35804	U	0.000000	1	0.08975	N	-0.345	0.03330	N	5.63	0.00800	T	0.37	0.03639	N	0.06	0.03175	-0.9647	0.38270	T	0.003	0.00800	T	10	0.008428931	0.00191	T	0.00405	0.09650	T	0.057	0.16321	.	.	0.0138822411134	0.00435	0.0037587487726221257	0.00351	.	.	0.184906214476	0.00148	T	0.015985	0.13301	T	-0.680879	0.00047	T	-0.801253	0.01872	T	0.0283894649983659	0.01745	T	0.533547	0.17787	T	0.014713073	0.00105	0.038435727	0.03713	0.014713073	0.00105	0.038435727	0.03713	-4.635	0.32608	T	.	.	0.108	0.20508	B	.	.	-0.017385	0.04162	1.002	0.26437583856384472	0.01266	0.01340	0.04609	N	AEFBI	.	.	.	-2.26900927051647	0.00054	0.002296346	-2.36564161484216	0.00047	0.002074123	0.925817267205096	0.26829	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	-6.83	0.01532	-0.839000	0.04475	0.000000	0.13247	-1.245000	0.01309	0.000000	0.06391	0.134000	0.23028	0.000000	0.00833	0.3732:0.0958:0.531:0.0	14.090	0.64511	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001067	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.1	627.14	294	chr14	104944187	.	G	A	627.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.84;DP=2761;ExcessHet=0.2348;FS=36.254;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.83;MQRankSum=-15.93;QD=0.86;ReadPosRankSum=-4.47;SOR=4.992	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800:.	8	0	2	0
chr14	104944194	104944194	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T10957C:p.S3653P,AHNAK2:NM_138420:exon7:c.T11257C:p.S3753P	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00731332278662	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1197318890	5.481e-06	2.599e-05	4.09e-06	6.886e-06	5.814e-05	2.36e-06	1.7e-06	2.199e-05	1.433e-05	0	0	0	0	0	0	9e-07	3.318e-05	5.814e-05	1.386e-05	0.0008	2.705e-05	0	5.181e-05	2.3e-06	8.6e-07	8.58e-06	3.21e-06	5.181e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.151689	0.17947	N	0.300593	1	0.08975	N	-2.085	0.00160	N	7.46	0.00389	T	4.96	0.00024	N	0.043	0.01577	-0.9481	0.41296	T	0.000	0.00039	T	10	0.0270347	0.00857	T	0.007313	0.19388	T	0.043	0.11576	0.215	0.13498	0.0138822411134	0.00435	0.004113931293499772	0.00386	.	.	0.184603542089	0.00144	T	0.017789	0.14454	T	-0.39485	0.02502	T	-0.804951	0.01781	T	0.0168109536798652	0.00435	T	0.190581	0.02032	T	0.02428034	0.01244	0.05186767	0.08432	0.02428034	0.01243	0.05186767	0.08432	0.987	0.00134	T	.	.	0.050	0.00133	B	.	.	-1.145865	0.00588	0.015	0.11174815064700661	0.00161	0.00041	0.00340	N	AEFBI	.	.	.	-2.60678688412028	0.00009	0.0003891529	-2.53885583523578	0.00019	0.0008278324	0.0578460759033399	0.15106	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.95	-5.91	0.02080	-2.790000	0.00837	0.000000	0.13247	-1.089000	0.01541	0.000000	0.06391	0.122000	0.22912	0.001000	0.02609	0.3701:0.4332:0.1967:0.0	7.868	0.28710	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	131.43	294	chr14	104944194	.	A	G	131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.84;DP=2725;ExcessHet=0;FS=31.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.96;MQRankSum=-15.45;QD=0.33;ReadPosRankSum=-3.803;SOR=5.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:241,0:241:99:.:.:0,120,1800:.	9	0	1	0
chr14	104944874	104944874	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C10277T:p.P3426L,AHNAK2:NM_138420:exon7:c.C10577T:p.P3526L	.	420	1093	5	0	4	9	0.00228206	.	.	.	3398032	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.089	0.00717773312292	.	0.000399361	0.0003	0	8.639e-05	0	0	0.0001	0	0.0014	0.0002523	39	154602	rs145215748	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0	0.0003	0	2.519e-05	0.0001	0.0028	0.0002	0.0004	0.0012	0.0004	0.0004	0.0003	0.0005	0.0017	0.0003	0.0003	0.0011	0.0010	4.83e-05	0	0.0016	0	0	9.432e-05	0.0170	0.0002	0.0014	0.0017	0.007	0.59928	D	0.003	0.76473	D	0.452	0.36118	B	0.485	0.47209	P	.	.	.	.	1	0.22374	N	2.785	0.81254	M	4.06	0.03063	T	-6.65	0.92260	D	0.213	0.23758	-1.1144	0.02718	T	0.040	0.17020	T	9	0.026627868	0.00825	T	0.007178	0.19034	T	0.089	0.25827	0.386	0.40624	0.168933306366	0.16529	0.01345587056858095	0.01303	.	.	0.242528811097	0.03022	T	0.074956	0.35064	T	-0.496136	0.00601	T	-0.51552	0.20750	T	0.109174804049841	0.13337	T	0.70163	0.31127	T	0.13324913	0.30999	0.12588571	0.30325	0.13324913	0.30999	0.12588571	0.30324	-7.383	0.56785	T	.	.	0.096	0.15251	B	.	.	2.331505	0.29866	18.26	0.9854428778979144	0.42757	0.05069	0.10862	N	AEFDBI	.	.	.	-0.587738883261028	0.19315	1.009982	-0.78553642721825	0.14850	0.7780467	6.54726971967449E-4	0.07551	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.56	2.67	0.30756	2.914000	0.48495	0.814000	0.21781	0.612000	0.49041	0.468000	0.26706	0.002000	0.18203	0.001000	0.02609	0.0:0.0:0.7939:0.2061	9.800	0.39925	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	4929.43	307	chr14	104944874	.	G	A	4929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.45;DP=2728;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.9;MQRankSum=-1.023;QD=13.85;ReadPosRankSum=-0.225;SOR=0.625	GT:AD:DP:GQ:PL	0/0:251,0:251:99:0,120,1800	9	0	1	0
chr14	104944899	104944899	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G10252A:p.A3418T,AHNAK2:NM_138420:exon7:c.G10552A:p.A3518T	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0008	0.00339457	0.0010	0.0025	0.0022	0.0001	0.0003	0.0006	0.0011	0.0020	0.0009832	152	154602	rs193275879	0.0007	0.0010	0.0006	0.0008	0.0038	0.0007	0.0007	0.0026	0.0022	0.0019	0.0020	0	0.0002	0.0005	0.0038	0.0005	0.0011	0.0021	0.0017	0.0030	0.0017	0.0018	0.0056	0.0016	0.0015	0.0046	0.0042	0.0020	0	0.0056	0	0.0011	0.0004	0.0188	0.0008	0.0040	0.0033	0.272	0.15930	T	0.58	0.08505	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.62	0.02180	N	5.76	0.00695	T	0.33	0.03889	N	0.038	0.01203	-0.9338	0.43575	T	0.001	0.00348	T	9	0.0041909516	0.00083	T	.	.	.	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004001890157106296	0.00375	.	.	0.215279042721	0.01055	T	0.018741	0.15056	T	-0.773442	0.00012	T	-0.88994	0.00576	T	0.00284316309725517	0.00030	T	0.40156	0.10241	T	0.012512493	0.00035	0.04563651	0.06183	0.012512493	0.00035	0.04563651	0.06182	-0.23	0.00441	T	.	.	0.066	0.02257	B	.	.	-1.858813	0.00138	0.002	0.58479526046595143	0.06003	0.00558	0.02546	N	AEFGBI	.	.	.	-1.79531529085884	0.00556	0.02397756	-1.83141658487462	0.00664	0.02952255	0.00534024057733337	0.10904	0.706548	0.73137	0	0.547309	0.14657	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.08	-4.86	0.02902	-2.659000	0.00924	-20.000000	0.00162	-0.859000	0.02647	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7193:0.1422:0.1384	10.467	0.43800	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007198	0.017442	0.012295	0.004167	0.000000	0.000000	0.000000	0.000000	0.05	7114.43	307	chr14	104944899	.	C	T	7114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.719;DP=2763;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=-0.974;QD=18.43;ReadPosRankSum=-1.37;SOR=0.702	GT:AD:DP:GQ:PL	0/0:251,0:251:99:0,120,1800	9	0	1	0
chr14	104945711	104945711	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A9440G:p.D3147G,AHNAK2:NM_138420:exon7:c.A9740G:p.D3247G	.	437	1064	20	1	0	22	0.0102326	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160606406043	.	0.000599042	0.0006	0	0.0009	0	0	0.0004	0.0011	0.0018	0.0005045	78	154602	rs200045846	0.0003	0.0004	0.0002	0.0004	0.0049	0.0003	0.0003	0.0035	0.0030	2.988e-05	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0016	0.0002	0.0003	0.0003	0.0002	0.0012	0.0002	0.0001	0.0005	0.0003	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0012	0.022	0.48642	D	0.061	0.45530	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.08975	N	2.795	0.81503	M	4.56	0.01933	T	-3.73	0.70920	D	0.205	0.22742	-1.1040	0.03640	T	0.036	0.15553	T	9	0.017894953	0.00385	T	0.001606	0.02574	T	0.069	0.20116	.	.	0.107399877778	0.10242	0.019300944833428736	0.01884	.	.	0.214619427919	0.01022	T	0.111464	0.42697	T	-0.454045	0.01069	T	-0.432244	0.29680	T	0.155301952476957	0.17518	T	0.668433	0.27736	T	0.11593374	0.27352	0.11815223	0.28522	0.11593374	0.27352	0.11815223	0.28522	-8.936	0.67284	D	.	.	0.179	0.39047	B	.	.	2.686068	0.35051	19.79	0.98138199759592337	0.38580	0.15688	0.19033	N	AEFBI	.	.	.	-0.0467745553855719	0.39747	2.348942	-0.350656538561117	0.26488	1.463424	2.72927506228462E-4	0.06300	0.732398	0.92422	0	0.588066	0.40923	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	2.95	2.95	0.33285	4.109000	0.57562	-2.102000	0.04210	0.603000	0.45986	0.248000	0.24829	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.1821:0.8179	9.203	0.36433	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003755	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.007692	0.05	533.43	75	chr14	104945711	.	T	C	533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=1420;ExcessHet=0;FS=11.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.67;MQRankSum=-9.259;QD=5.18;ReadPosRankSum=3.19;SOR=2.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,20:103:99:0|1:104945711_T_C:545,0,3259:104945711	9	0	1	0
chr14	104946094	104946094	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G9057C:p.K3019N,AHNAK2:NM_138420:exon7:c.G9357C:p.K3119N	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00530819499733	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903336623	6.843e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.23813	T	0.374	0.16280	T	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	1	0.08975	N	2.15	0.60148	M	5.8	0.00668	T	-0.73	0.20576	N	0.192	0.21056	-0.9007	0.47920	T	0.007	0.02360	T	9	0.1773707	0.32769	T	0.005308	0.13587	T	0.040	0.10527	0.367	0.37524	0.0551355673512	0.04727	0.009229774199377533	0.00885	.	.	0.277151852846	0.07099	T	0.026494	0.19595	T	-0.318655	0.07007	T	-0.695502	0.06074	T	0.216874802421256	0.21307	T	0.273673	0.04648	T	0.029278494	0.02396	0.031659894	0.01787	0.029278494	0.02395	0.031659894	0.01787	-8.868	0.66843	D	.	.	0.378	0.58281	A	.	.	1.981403	0.25168	16.67	0.9471562634121099	0.25381	0.04383	0.09962	N	AEFBI	.	.	.	-0.391786838107553	0.25760	1.400824	-0.661009226618727	0.17940	0.9561249	1.34916305957785E-4	0.05486	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.45	0.194	0.14424	0.156000	0.16200	-20.000000	0.00162	0.444000	0.21144	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1728:0.5357:0.0:0.2914	3.651	0.07740	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	6541.43	82	chr14	104946094	.	C	G	6541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=1710;ExcessHet=0;FS=8.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.79;MQRankSum=5.51;QD=17.08;ReadPosRankSum=-4.484;SOR=1.094	GT:AD:DP:GQ:PL	0/0:215,0:215:99:0,120,1800	9	0	1	0
chr14	104946203	104946204	AC	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8947_8948del:p.V2983Qfs*80,AHNAK2:NM_138420:exon7:c.9247_9248del:p.V3083Qfs*80	.	429	1073	19	1	0	21	0.00969082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0007	3.84e-05	1	26028	rs757107721	0.0003	0.0004	0.0002	0.0004	0.0059	0.0003	0.0003	0.0043	0.0038	3.003e-05	0.0005	0	0	0	0.0059	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0011	0.0002	0.0002	0.0004	0.0003	0	0	0.0005	0	0	9.656e-05	0	0.0004	0.0005	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2338.39	82	chr14	104946202	.	GAC	G	2338.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=1528;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.79;MQRankSum=-12.54;QD=11.35;ReadPosRankSum=-0.567;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,66:206:99:0|1:104946202_GAC_G:2350,0,5680:104946202	9	0	1	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	51553.8	187	chr14	104946204	.	C	*	51553.8	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.212;DP=2060;ExcessHet=2.8389;FS=1.155;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=50.7;MQRankSum=-11.62;QD=25.83;ReadPosRankSum=0.055;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,66:206:99:0|1:104946202_GAC_G:2350,0,5680:104946202	9	0	1	0
chr14	104946206	104946206	-	GC	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8944_8945insGC:p.D2982Gfs*10,AHNAK2:NM_138420:exon7:c.9244_9245insGC:p.D3082Gfs*10	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0003	0	0	0.0002	0.0012	0.0008	3.84e-05	1	26028	rs745545429	0.0003	0.0004	0.0002	0.0004	0.0060	0.0003	0.0003	0.0044	0.0038	3.011e-05	0.0005	0	0	0	0.0060	0.0002	0.0007	0.0017	0.0003	0.0004	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0	0.0006	0	0	9.779e-05	0	0.0004	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2464.39	169	chr14	104946206	.	T	TGC	2464.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=1859;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.45;MQRankSum=-12.66;QD=11.79;ReadPosRankSum=-0.81;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,69:209:99:0|1:104946202_GAC_G:2476,0,5671:104946202	9	0	1	0
chr14	104947006	104947006	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8145T:p.M2715I,AHNAK2:NM_138420:exon7:c.G8445T:p.M2815I	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00881755386826	.	.	6.628e-05	0.0002	0.0002	0	0	0	0	0.0002	5.17e-05	8	154602	rs774485760	1.847e-05	3.831e-05	1.362e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	8.887e-05	7.055e-05	0.0001	0.0001	0	0	0	0	3.598e-06	0	0.0002	0.0002	0.0003	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	6.578e-05	0	0.0002	0	0	0	0	0	0.052	0.39097	T	0.104	0.38160	T	0.041	0.21357	B	0.03	0.21741	B	.	.	.	.	1	0.81001	D	1.675	0.43121	L	5.03	0.01287	T	-2.19	0.49352	N	0.19	0.20793	-0.9757	0.35970	T	0.009	0.03315	T	9	0.04191628	0.02891	T	0.008818	0.23269	T	0.108	0.30607	0.261	0.20473	0.0297737177859	0.01360	0.01026576912205221	0.00988	.	.	0.309450119734	0.11825	T	0.037635	0.24548	T	-0.444337	0.01219	T	-0.575712	0.14929	T	0.0138714310120336	0.00264	T	0.69513	0.30474	T	0.26357573	0.49422	0.30433756	0.56462	0.26357573	0.49422	0.30433756	0.56461	-8.443	0.64051	D	.	.	0.555	0.67013	A	.	.	0.994139	0.13720	10.26	0.77925112026147803	0.12081	0.25582	0.22742	N	AEFBI	.	.	.	-0.811520737902573	0.13015	0.6383002	-0.841241614043072	0.13498	0.700534	0.00322649174223817	0.10001	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.42	2.53	0.29594	0.864000	0.27581	-0.855000	0.07163	-0.240000	0.07525	0.590000	0.27666	0.000000	0.08366	0.219000	0.22435	0.0:0.899:0.0:0.101	10.419	0.43525	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1655.43	260	chr14	104947006	.	C	A	1655.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=2271;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.41;MQRankSum=-8.086;QD=5.34;ReadPosRankSum=-5.025;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	9	0	1	0
chr14	104947016	104947016	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8135G:p.K2712R,AHNAK2:NM_138420:exon7:c.A8435G:p.K2812R	.	411	1107	3	0	1	4	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	.	.	0.00239617	0.0007	0.0001	8.642e-05	0.0088	0	1.499e-05	0	0.0002	0.0006598	102	154602	rs149610538	0.0003	0.0004	0.0003	0.0003	0.0104	0.0003	0.0003	0.0095	0.0092	8.985e-05	8.951e-05	0	0.0104	0	0	6.296e-06	0.0003	0.0004	0.0005	0.0007	0.0004	0.0006	0.0094	0.0004	0.0004	0.0072	0.0065	0.0004	0	0.0003	0	0.0094	0	0	2.954e-05	0.0005	0.0011	0.105	0.29823	T	0.426	0.13872	T	0.987	0.61912	D	0.817	0.58928	P	.	.	.	.	1	0.81001	D	2.125	0.59049	M	5.58	0.00843	T	-1.72	0.40850	N	0.088	0.06587	-1.0226	0.22866	T	0.013	0.05321	T	9	0.004372418	0.00089	T	.	.	.	0.111	0.31313	0.235	0.16457	0.104622674875	0.10061	0.006351958501373234	0.00603	.	.	0.276062637568	0.06949	T	0.019789	0.15700	T	-0.61339	0.00121	T	-0.643481	0.09418	T	0.0894569752209701	0.11152	T	0.646635	0.25786	T	0.03782888	0.04923	0.05987538	0.11311	0.03782888	0.04922	0.05987538	0.11311	-8.338	0.63351	D	.	.	0.108	0.20313	B	.	.	2.823789	0.37210	20.4	0.99681159396442842	0.79241	0.86506	0.45800	D	AEFBI	.	.	.	0.302055067384919	0.56254	3.789828	0.130781691939143	0.46132	2.864205	0.0110652393634915	0.12125	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.24	3.24	0.36257	2.553000	0.45498	0.351000	0.17477	0.603000	0.45986	0.782000	0.29497	0.000000	0.08366	0.220000	0.22462	0.0:0.113:0.0:0.887	7.312	0.25651	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1365.43	260	chr14	104947016	.	T	C	1365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=2258;ExcessHet=0;FS=1.197;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=-8.742;QD=4.57;ReadPosRankSum=-5.674;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	9	0	1	0
chr14	104947029	104947029	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8122A:p.A2708T,AHNAK2:NM_138420:exon7:c.G8422A:p.A2808T	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0021465285224	.	.	1.657e-05	0.0001	0	0	0	0	0	6.056e-05	3.84e-05	1	26028	rs753557348	4.106e-06	3.352e-05	2.723e-06	5.502e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	2.237e-05	0	0	0	0	0	4.972e-05	2.319e-05	3.975e-05	0.0002	3.887e-05	4.067e-05	0.0001	1.727e-05	1.137e-05	6.362e-05	4.351e-05	0.0001	0	0	0	0	0	0	0	0	0	0.211	0.19569	T	0.398	0.15109	T	0.02	0.18235	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	-0.065	0.04868	N	5.56	0.00864	T	-1.47	0.35991	N	0.031	0.00770	-0.9268	0.44602	T	0.002	0.00646	T	9	0.04058653	0.02641	T	0.002147	0.04016	T	0.017	0.02790	0.182	0.09004	0.0138822411134	0.00435	0.004271582096035724	0.00401	.	.	0.217992335558	0.01197	T	0.023885	0.18153	T	-0.407082	0.02079	T	-0.822522	0.01402	T	0.0551051895484542	0.06374	T	0.530047	0.17581	T	0.020317389	0.00586	0.048495054	0.07215	0.020317389	0.00586	0.048495054	0.07215	-5.343	0.40366	T	.	.	0.078	0.06896	B	.	.	-1.156049	0.00577	0.014	0.98269003362655172	0.39740	0.00406	0.02023	N	AEFBI	.	.	.	-1.58955454362856	0.01317	0.05737921	-1.64891221770057	0.01382	0.06241248	1.24261121917014E-4	0.05386	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.93	-1.59	0.08003	-4.721000	0.00225	-20.000000	0.00162	-1.921000	0.00507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4086:0.1985:0.3929	3.498	0.07224	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	456.43	260	chr14	104947029	.	C	T	456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=2218;ExcessHet=0;FS=16.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.28;MQRankSum=-10.57;QD=1.84;ReadPosRankSum=-6.289;SOR=2.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	9	0	1	0
chr14	104947035	104947036	TG	-	exonic	AHNAK2	.	frameshift deletion	AHNAK2:NM_001350929:exon7:c.8115_8116del:p.M2706Dfs*34,AHNAK2:NM_138420:exon7:c.8415_8416del:p.M2806Dfs*34	.	410	1109	3	0	0	3	0.00135074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0	0.0022	0	0.0002	0	0.0003	3.84e-05	1	26028	rs774608875	5.476e-05	0.0002	4.222e-05	6.742e-05	0.0008	4.479e-05	4.149e-05	0.0005	0.0005	0.0008	8.952e-05	0.0002	0.0002	0	0.0003	2.519e-05	9.947e-05	1.16e-05	0.0004	0.0006	0.0004	0.0005	0.0016	0.0003	0.0003	0.0008	0.0006	0.0007	0	0.0005	0.0003	0.0016	0	0	0.0002	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	324.39	260	chr14	104947034	.	ATG	A	324.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.86;DP=2205;ExcessHet=0;FS=15.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.36;MQRankSum=-11.26;QD=1.31;ReadPosRankSum=-6.206;SOR=2.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	9	0	1	0
chr14	104947037	104947037	-	AT	exonic	AHNAK2	.	frameshift insertion	AHNAK2:NM_001350929:exon7:c.8113_8114insAT:p.G2705Dfs*3,AHNAK2:NM_138420:exon7:c.8413_8414insAT:p.G2805Dfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.971e-05	0	0	0	0	7.496e-05	0	6.056e-05	3.84e-05	1	26028	rs759592260	1.369e-05	4.447e-05	1.226e-05	1.513e-05	0.0003	8.94e-06	7.27e-06	0.0002	0.0001	0.0003	4.477e-05	0	0	0	0	5.397e-06	1.658e-05	1.16e-05	0.0001	0.0002	0.0001	0.0001	0.0003	7.199e-05	5.935e-05	0.0001	0.0001	0.0002	0	0.0003	0	0	0	0	2.963e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	205.39	260	chr14	104947037	.	C	CAT	205.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.08;DP=2200;ExcessHet=0;FS=20.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.35;MQRankSum=-11.99;QD=0.85;ReadPosRankSum=-6.324;SOR=2.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:143,0:143:99:.:.:0,120,1800:.	9	0	1	0
chr14	104948036	104948036	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C7115T:p.A2372V,AHNAK2:NM_138420:exon7:c.C7415T:p.A2472V	.	420	1101	1	0	0	1	0.000453926	.	.	.	3185728	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.041	0.00138525580824	0.0007	.	0.0008	0	0	0	0	0.0013	0.0011	0.0002	0.0006339	98	154602	rs199577521	0.0004	0.0004	0.0004	0.0005	0.0003	0.0004	0.0004	0.0001	0.0001	5.988e-05	2.236e-05	0.0150	0.0001	0	0.0003	0.0001	0.0011	0.0001	0.0005	0.0005	0.0005	0.0005	0.0002	0.0004	0.0004	0.0001	0.0001	0	0	0	0.0162	0	0	0	0.0002	0.0010	0.0002	0.113	0.28772	T	0.125	0.35330	T	0.999	0.77913	D	0.981	0.75168	D	.	.	.	.	1	0.08975	N	2.24	0.63355	M	5.83	0.00652	T	-1.08	0.28084	N	0.085	0.06190	-0.9607	0.39050	T	0.009	0.03271	T	9	0.0064863563	0.00147	T	0.001385	0.02011	T	0.041	0.10877	.	.	0.0401082797425	0.02173	0.0015700907232996237	0.00145	.	.	0.207319930196	0.00703	T	0.021377	0.16659	T	-0.542101	0.00326	T	-0.714745	0.05054	T	0.0250484629572635	0.01279	T	0.691931	0.30130	T	0.018897714	0.00413	0.026452301	0.00736	0.018897714	0.00413	0.026452301	0.00736	-7.115	0.54868	T	.	.	0.158	0.34949	B	.	.	1.033996	0.14140	10.72	0.99722137581551573	0.82125	0.01792	0.05602	N	AEFBI	.	.	.	-0.487508253734615	0.22491	1.201216	-0.774470318940478	0.15122	0.793736	9.54149415450864E-5	0.04910	0.732398	0.92422	0	0.547309	0.14657	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	3.51	0.422	0.15674	-0.534000	0.06238	-20.000000	0.00162	-0.866000	0.02592	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4369:0.4342:0.1289	5.344	0.15303	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000538	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	6911.43	512	chr14	104948036	.	G	A	6911.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=2906;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=1.32;SOR=0.689	GT:AD:DP:GQ:PL	0/0:173,0:173:99:0,120,1800	9	0	1	0
chr14	104948957	104948957	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T6194C:p.V2065A,AHNAK2:NM_138420:exon7:c.T6494C:p.V2165A	.	545	964	10	3	0	16	0.00823045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0041	0.00339457	0.0024	0.0102	0.0022	0.0005	0.0002	0.0011	0.0054	0.0034	0.0017141	265	154602	rs199574745	0.0014	0.0014	0.0014	0.0014	0.0152	0.0013	0.0013	0.0121	0.0116	0.0130	0.0025	0.0041	0.0008	0.0005	0.0152	0.0006	0.0027	0.0035	0.0047	0.0049	0.0050	0.0044	0.0108	0.0044	0.0043	0.0100	0.0096	0.0108	0	0.0027	0.0036	0.0006	0.0003	0	0.0015	0.0067	0.0039	0.184	0.21634	T	0.318	0.19246	T	0.997	0.70673	D	0.983	0.75793	D	.	.	.	.	1	0.08975	N	1.9	0.50570	L	5.46	0.00959	T	-0.92	0.24676	N	0.035	0.01004	-0.9392	0.42743	T	0.006	0.01981	T	9	0.00725919	0.00165	T	.	.	.	0.022	0.04323	.	.	0.0401082797425	0.02173	0.004772544787741951	0.00449	.	.	0.223785355687	0.01539	T	0.021497	0.16731	T	-0.64341	0.00079	T	-0.689741	0.06404	T	0.015071904004802	0.00326	T	0.424058	0.11326	T	0.033221856	0.03500	0.03668754	0.03167	0.033221856	0.03499	0.03668754	0.03166	-8.191	0.62365	D	.	.	0.156	0.34580	B	.	.	1.078716	0.14613	11.18	0.7966226950072457	0.12843	0.03035	0.07922	N	AEFBI	.	.	.	-0.44233191117111	0.24000	1.292891	-0.690501736016245	0.17198	0.9133596	1.72976005002649E-4	0.05786	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	0.595	0.16672	0.690000	0.25132	-2.018000	0.04337	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.6102:0.1463:0.2435:0.0	5.517	0.16203	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013642	0.006494	0.002833	0.050000	0.000000	0.027778	0.003759	0.026316	0.05556	3059.45	21	chr14	104948957	.	A	G	3059.45	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.38;DP=1800;ExcessHet=0;FS=6.53;InbreedingCoeff=0.1805;MLEAC=1;MLEAF=0.056;MQ=58.35;MQRankSum=-3.304;QD=9.08;ReadPosRankSum=-3.558;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,108,1620:.	8	0	1	1
chr14	104948961	104948961	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6190A:p.G2064R,AHNAK2:NM_138420:exon7:c.G6490A:p.G2164R	.	681	829	8	4	0	16	0.00955795	.	.	.	2340032	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.099	0.00414373534812	0.0006	0.000399361	0.0007	0.0014	0.0006	0	0	0.0004	0.0013	0.0020	7.68e-05	2	26028	rs200342474	0.0004	0.0004	0.0003	0.0005	0.0044	0.0004	0.0003	0.0028	0.0023	0.0010	0.0005	0	2.539e-05	0	0.0044	0.0002	0.0006	0.0020	0.0006	0.0008	0.0007	0.0006	0.0018	0.0005	0.0005	0.0008	0.0006	0.0009	0	0.0012	0	0	0	0	0.0003	0.0020	0.0018	0.533	0.06957	T	0.04	0.50809	D	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.24005	N	2.36	0.67893	M	4.13	0.02865	T	-2.17	0.49018	N	0.219	0.24510	-1.0797	0.07407	T	0.045	0.19518	T	9	0.011158854	0.00245	T	0.004144	0.09931	T	0.099	0.28413	0.324	0.30549	0.250039746154	0.24611	0.005355624157952884	0.00506	.	.	0.248388916254	0.03600	T	0.093677	0.39260	T	-0.517502	0.00455	T	-0.573907	0.15093	T	0.0503001138567924	0.05553	T	0.779622	0.41374	T	0.086888	0.20213	0.18191162	0.41084	0.086888	0.20213	0.18191162	0.41083	-8.662	0.65497	D	.	.	0.148	0.32637	B	.	.	2.571896	0.33327	19.31	0.98585054737644706	0.43297	0.02122	0.06269	N	AEFBI	.	.	.	0.0907639512908889	0.46032	2.850016	-0.148872753103853	0.33451	1.91366	0.00284535610033142	0.09746	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	4.35	0.51454	0.535000	0.22822	-11.662000	0.00586	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8349:0.1651:0.0	12.784	0.56875	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003567	0.000000	0.001420	0.009346	0.000000	0.000000	0.000000	0.013158	0.07143	3030.65	19	chr14	104948961	.	C	T	3030.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=1789;ExcessHet=0;FS=7.537;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.071;MQ=58.31;MQRankSum=-3.359;QD=8.99;ReadPosRankSum=-4.415;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,108,1620:.	6	0	1	3
chr14	104948963	104948963	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T6188A:p.F2063Y,AHNAK2:NM_138420:exon7:c.T6488A:p.F2163Y	.	680	830	8	4	0	16	0.00954654	.	.	.	2340030	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.00423400417451	.	0.000399361	0.0006	0.0005	0.0006	0	0	0.0004	0.0013	0.0019	7.68e-05	2	26028	rs558985278	0.0003	0.0004	0.0003	0.0004	0.0044	0.0003	0.0003	0.0028	0.0023	6.105e-05	0.0005	0	2.54e-05	0	0.0044	0.0002	0.0006	0.0019	0.0004	0.0005	0.0003	0.0005	0.0018	0.0003	0.0003	0.0008	0.0006	0.0002	0	0.0012	0	0	0	0	0.0003	0.0014	0.0018	0.125	0.27310	T	0.014	0.62352	D	0.995	0.67487	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	2.61	0.76335	M	4.7	0.01673	T	-1.48	0.36189	N	0.282	0.31925	-1.0859	0.06245	T	0.035	0.14857	T	9	0.015946686	0.00335	T	0.004234	0.10216	T	0.160	0.41473	.	.	0.0666544352282	0.05500	0.00412412185900262	0.00387	.	.	0.304902017117	0.11135	T	0.092826	0.39085	T	-0.345376	0.05025	T	-0.497217	0.22636	T	0.0728509215486033	0.09046	T	0.549445	0.18903	T	0.15074746	0.34303	0.14362918	0.34127	0.15074746	0.34302	0.14362918	0.34126	-11.076	0.80073	D	.	.	0.275	0.50898	B	.	.	3.219894	0.43869	21.8	0.95443313603458479	0.26952	0.81626	0.40992	D	AEFBI	.	.	.	0.30677126144156	0.56495	3.814335	0.094457377813433	0.44269	2.711977	0.999337509708066	0.39185	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.35	4.35	0.51454	5.031000	0.63918	1.832000	0.29123	0.660000	0.55035	0.970000	0.34288	0.001000	0.17328	0.002000	0.04165	1.0:0.0:0.0:0.0	13.585	0.61389	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002969	0.000000	0.001420	0.004630	0.000000	0.000000	0.000000	0.013274	0.07143	2993.65	.	chr14	104948963	.	A	T	2993.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.427;DP=1639;ExcessHet=0;FS=6.656;MLEAC=1;MLEAF=0.071;MQ=58.32;MQRankSum=-3.412;QD=8.99;ReadPosRankSum=-4.585;SOR=1.059	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:61,0:61:99:.:.:0,108,1620:.	6	0	1	3
chr14	104949437	104949437	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5714A:p.R1905K,AHNAK2:NM_138420:exon7:c.G6014A:p.R2005K	.	443	1064	15	0	0	15	0.00699953	.	.	.	2807483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.072	.	.	0.00519169	0.0027	0.0039	0.0013	0.0013	0.0121	0.0015	0.0068	0.0049	0.0023868	369	154602	rs201724743	0.0015	0.0018	0.0014	0.0016	0.0045	0.0014	0.0014	0.0041	0.0040	0.0039	0.0011	0.0024	0.0007	0.0136	0.0019	0.0006	0.0022	0.0045	0.0033	0.0048	0.0029	0.0037	0.0080	0.0030	0.0029	0.0059	0.0052	0.0049	0	0.0012	0.0024	0.0019	0.0141	0	0.0011	0.0010	0.0080	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	-2.425	0.00069	N	5.56	0.00864	T	0.9	0.01618	N	0.055	0.02658	-0.9435	0.42057	T	0.001	0.00222	T	9	0.0056378245	0.00125	T	.	.	.	0.072	0.21020	.	.	0.0138822411134	0.00435	0.013107380770452471	0.01268	.	.	0.247352719307	0.03494	T	0.016235	0.13458	T	-0.692671	0.00040	T	-0.766935	0.02870	T	0.00296917531338819	0.00031	T	0.356864	0.08118	T	0.022871908	0.00981	0.038770977	0.03821	0.022871908	0.00981	0.038770977	0.03820	2.446	0.00035	T	.	.	0.056	0.00505	B	.	.	-0.176059	0.03215	0.535	0.41923522000302094	0.03056	0.00269	0.01464	N	AEFBI	.	.	.	-1.69253864397875	0.00869	0.03758364	-1.54671633278708	0.01998	0.0913044	2.19621052287939E-4	0.05997	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	2.57	0.29928	0.265000	0.18282	-4.016000	0.02392	-0.164000	0.11507	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.1777:0.1542:0.6681	5.046	0.13823	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001654	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007752	0.05	1069.43	311	chr14	104949437	.	C	T	1069.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.89;DP=2397;ExcessHet=0;FS=27.005;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.48;MQRankSum=-12.99;QD=4.77;ReadPosRankSum=-4.381;SOR=2.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	9	0	1	0
chr14	104949452	104949452	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5699C:p.V1900A,AHNAK2:NM_138420:exon7:c.T5999C:p.V2000A	.	440	1074	8	0	0	8	0.00371058	.	.	.	2340029	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.073	0.00167314473668	.	.	1.679e-05	0	8.964e-05	0	0	0	0	6.11e-05	1.29e-05	2	154602	rs760905325	0.0001	0.0002	7.32e-05	0.0002	0.0007	0.0001	0.0001	0.0006	0.0005	3.004e-05	0.0002	0	0	0	0.0007	7.567e-05	0.0003	0.0007	0.0001	0.0003	0.0001	0.0002	0.0009	9.639e-05	8.035e-05	0.0003	0.0002	0.0001	0	0.0004	0	0	0	0	9.149e-05	0.0005	0.0009	0.164	0.23360	T	0.144	0.33109	T	0.897	0.49385	P	0.718	0.54779	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	4.72	0.01636	T	-1.2	0.30555	N	0.053	0.02462	-0.9989	0.30227	T	0.009	0.03096	T	9	0.06246966	0.07993	T	0.001673	0.02753	T	0.073	0.21317	.	.	0.0138822411134	0.00435	0.009330454232338779	0.00896	.	.	0.21526452899	0.01054	T	0.020204	0.15948	T	-0.548641	0.00297	T	-0.746426	0.03627	T	0.122140422463417	0.14637	T	0.475152	0.14192	T	0.016664438	0.00213	0.026208676	0.00698	0.016664438	0.00213	0.026208676	0.00698	-8.18	0.62290	D	.	.	0.225	0.45653	B	.	.	0.875312	0.12483	9.015	0.58557647110772948	0.06020	0.04720	0.10414	N	AEFBI	.	.	.	-0.84147920516023	0.12259	0.5965317	-1.10150230626559	0.07672	0.3740869	6.21318167841116E-4	0.07482	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	-3.98	0.03810	0.355000	0.19902	-11.216000	0.00624	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4926:0.142:0.2277:0.1377	1.235	0.01833	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1866.43	311	chr14	104949452	.	A	G	1866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=2431;ExcessHet=0;FS=12.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.01;MQRankSum=-12.74;QD=7.23;ReadPosRankSum=-3.154;SOR=1.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	9	0	1	0
chr14	104949456	104949456	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5695A:p.G1899R,AHNAK2:NM_138420:exon7:c.G5995A:p.G1999R	.	439	1075	8	0	0	8	0.00370714	.	.	.	2340028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.00616331336328	0.0004	0.000399361	0.0002	0.0010	0.0004	0.0001	0	4.554e-05	0	0.0001	0.0001423	22	154602	rs199942947	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0008	0.0007	0.0002	0.0007	0	5.043e-05	0	0.0012	0.0001	0.0005	0.0009	0.0005	0.0006	0.0004	0.0006	0.0015	0.0004	0.0003	0.0007	0.0006	0.0009	0	0.0008	0	0.0002	0	0	0.0002	0.0015	0.0015	0.164	0.23360	T	0.076	0.42614	T	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	1	0.81001	D	2.165	0.60562	M	4.13	0.02865	T	-1.5	0.36586	N	0.13	0.12484	-1.0507	0.14203	T	0.038	0.16548	T	9	0.024904132	0.00702	T	0.006163	0.16141	T	0.139	0.37390	0.334	0.32167	0.16115917748	0.15686	0.009685292477354841	0.00930	.	.	0.21096944809	0.00853	T	0.096745	0.39886	T	-0.544254	0.00316	T	-0.638832	0.09754	T	0.0292172214080147	0.01870	T	0.69773	0.30785	T	0.03328945	0.03517	0.07493478	0.16445	0.03328945	0.03517	0.07493478	0.16444	-9.516	0.70958	D	.	.	0.162	0.35746	B	.	.	2.142550	0.27281	17.41	0.9864386936597701	0.44096	0.10928	0.16290	N	AEFBI	.	.	.	-0.332304795630134	0.27927	1.536236	-0.60434216691576	0.19381	1.039587	0.698608198005806	0.22670	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	2.83	0.32150	-0.057000	0.11726	-20.000000	0.00162	-0.990000	0.01853	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9082:0.0:0.0918	11.288	0.48469	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1925.43	311	chr14	104949456	.	C	T	1925.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.1;DP=2443;ExcessHet=0;FS=10.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.12;MQRankSum=-12.83;QD=7.13;ReadPosRankSum=-2.377;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	9	0	1	0
chr14	104949458	104949458	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5693A:p.F1898Y,AHNAK2:NM_138420:exon7:c.T5993A:p.F1998Y	.	435	1079	8	0	0	8	0.00369344	.	.	.	2340027	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.164	0.00614670573348	.	.	8.396e-06	0	0	0	0	0	0	6.11e-05	3.84e-05	1	26028	rs753186701	0.0001	0.0001	9.254e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	0	0.0003	0	2.521e-05	0	0.0007	8.479e-05	0.0002	0.0009	0.0002	0.0003	0.0001	0.0002	0.0011	0.0001	9.607e-05	0.0004	0.0003	0.0001	0	0.0003	0	0	0	0	0.0001	0.0005	0.0011	0.032	0.44694	D	0.027	0.55341	D	0.993	0.65571	D	0.898	0.63708	P	.	.	.	.	0.999999	0.58761	D	2.69	0.78713	M	4.7	0.01673	T	-1.65	0.39503	N	0.279	0.31590	-0.9828	0.34351	T	0.028	0.11882	T	9	0.12285593	0.23312	T	0.006147	0.16111	T	0.164	0.42212	.	.	0.0482279557977	0.04254	0.007504153412849306	0.00716	.	.	0.277836799622	0.07193	T	0.107512	0.41978	T	-0.345939	0.04988	T	-0.438502	0.28976	T	0.193708041430183	0.20061	T	0.637636	0.25136	T	0.14385247	0.33045	0.12094333	0.29184	0.14385247	0.33044	0.12094333	0.29183	-11.636	0.83033	D	.	.	0.337	0.55713	B	.	.	3.034995	0.40672	21.2	0.95442750460372017	0.26950	0.92142	0.55038	D	AEFBI	.	.	.	0.163399242299377	0.49447	3.145105	-0.0490517326808528	0.37531	2.198766	0.0768603047912893	0.15741	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.72	3.72	0.41857	1.781000	0.38274	1.131000	0.24326	0.689000	0.82905	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	1.0:0.0:0.0:0.0	12.460	0.55065	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1925.43	311	chr14	104949458	.	A	T	1925.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=2454;ExcessHet=0;FS=10.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.23;MQRankSum=-12.83;QD=7.13;ReadPosRankSum=-2.018;SOR=1.361	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:92,0:92:99:.:.:0,120,1800:.	9	0	1	0
chr14	104949915	104949915	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5236C:p.V1746L,AHNAK2:NM_138420:exon7:c.G5536C:p.V1846L	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00319830884034	0.0004	0.00119808	0.0003	0.0027	0.0004	0.0001	0	3.035e-05	0	0.0002	0.0002975	46	154602	rs372488743	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0003	0	5.039e-05	0	0	6.379e-05	0.0003	7.019e-05	0.0009	0.0009	0.0009	0.0009	0.0028	0.0007	0.0007	0.0024	0.0022	0.0028	0	6.859e-05	0	0.0008	0	0	9.047e-05	0.0015	0.0006	1.0	0.00964	T	0.958	0.02562	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.44	0.00979	T	0.62	0.02442	N	0.032	0.00825	-0.9251	0.44844	T	0.002	0.00676	T	9	0.0060581565	0.00136	T	0.003198	0.07026	T	0.011	0.01250	0.208	0.12497	0.0138822411134	0.00435	0.005942077431607328	0.00563	.	.	0.232460722327	0.02155	T	0.015697	0.13114	T	-0.696352	0.00038	T	-0.775143	0.02603	T	0.00209278565339374	0.00022	T	0.492651	0.15191	T	0.027752869	0.02013	0.0362239	0.03027	0.027752869	0.02012	0.0362239	0.03027	-8.084	0.61641	D	.	.	0.178	0.38782	B	.	.	-0.943069	0.00856	0.030	0.12012696699281185	0.00197	0.03849	0.09203	N	AEFBI	.	.	.	-1.46246045480056	0.02121	0.0933042	-1.47044462695258	0.02590	0.1193756	9.56943912249564E-5	0.04910	0.67177	0.52595	0	0.588015	0.36545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.12	-0.408	0.11764	-1.409000	0.02589	-13.697000	0.00444	-1.897000	0.00527	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4046:0.5061:0.0893	9.335	0.37204	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2354.43	669	chr14	104949915	.	C	G	2354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.5;DP=3588;ExcessHet=0;FS=5.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.91;MQRankSum=-6.129;QD=6.12;ReadPosRankSum=0.897;SOR=0.46	GT:AD:DP:GQ:PL	0/0:260,0:260:99:0,120,1800	9	0	1	0
chr14	104950043	104950043	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T5108C:p.V1703A,AHNAK2:NM_138420:exon7:c.T5408C:p.V1803A	.	440	1056	25	1	0	27	0.0126227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.00958466	0.0009	0.0049	0.0005	0.0014	0	0.0003	0.0023	0.0010	0.0012613	195	154602	rs145652874	0.0009	0.0026	0.0009	0.0009	0.0159	0.0009	0.0008	0.0148	0.0143	0.0159	0.0020	0.0002	0.0020	0.0002	0.0032	0.0003	0.0019	0.0015	0.0071	0.0099	0.0075	0.0068	0.0241	0.0068	0.0066	0.0228	0.0222	0.0241	0	0.0037	0	0.0021	0	0.0072	0.0004	0.0082	0.0005	0.823	0.02936	T	0.538	0.09829	T	0.01	0.15535	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.23	0.00807	N	5.95	0.00612	T	0.83	0.01787	N	0.023	0.00407	-0.9457	0.41698	T	0.000	0.00075	T	9	0.0042342544	0.00085	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.003104252817684476	0.00289	.	.	0.205832988024	0.00647	T	0.016131	0.13395	T	-0.741744	0.00020	T	-0.819986	0.01452	T	0.0039249460276532	0.00042	T	0.174383	0.01678	T	0.016648958	0.00212	0.028164823	0.01028	0.016648958	0.00212	0.028164823	0.01028	0.606	0.00192	T	.	.	0.074	0.05231	B	.	.	-1.605512	0.00237	0.004	0.24895953066776089	0.01122	0.00079	0.00540	N	AEFBI	.	.	.	-2.08541276212991	0.00138	0.005898899	-2.17211708655396	0.00129	0.005680874	0.00857578015082789	0.11701	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.02	-4.05	0.03730	-5.785000	0.00119	-12.495000	0.00521	-2.579000	0.00240	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4939:0.1884:0.3176:0.0	3.928	0.08771	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010787	0.036082	0.001362	0.008333	0.000000	0.008621	0.013072	0.003846	0.15	12264.4	616	chr14	104950043	.	A	G	12264.4	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.713;DP=2357;ExcessHet=0;FS=0;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=58.03;MQRankSum=-22.59;QD=13.72;ReadPosRankSum=-6.119;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,278:278:99:1|1:104950030_A_C:12077,837,0:104950030	8	1	1	0
chr14	104950410	104950410	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4741C:p.V1581L,AHNAK2:NM_138420:exon7:c.G5041C:p.V1681L	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00973767702888	.	0.000199681	2.521e-05	0.0001	0	0	0	1.517e-05	0	6.125e-05	2.59e-05	4	154602	rs201340294	8.33e-06	1.103e-05	9.673e-06	6.974e-06	6.03e-05	4.44e-06	3.51e-06	1.596e-05	9.39e-06	6.03e-05	0	0	0	0	0	3.647e-06	3.359e-05	4.696e-05	4.092e-05	4.672e-05	6.647e-05	1.4e-05	0.0001	1.769e-05	1.165e-05	3.347e-05	1.98e-05	0.0001	0	6.879e-05	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.12	0.32230	B	.	.	.	.	1	0.18198	N	0.245	0.09735	N	4.99	0.01332	T	0.25	0.04456	N	0.038	0.01203	-0.8922	0.48740	T	0.003	0.01026	T	9	0.023446828	0.00613	T	0.009738	0.25427	T	0.027	0.05988	0.16	0.06396	0.0138822411134	0.00435	0.002769478969881453	0.00257	.	.	0.222423136234	0.01454	T	0.015279	0.12850	T	-0.507211	0.00521	T	-0.784203	0.02329	T	0.0432517694809705	0.04284	T	0.516048	0.16641	T	0.03305123	0.03447	0.030471666	0.01508	0.03305123	0.03447	0.030471666	0.01508	-8.401	0.63772	D	.	.	0.142	0.31253	B	.	.	-1.057321	0.00693	0.020	0.14622675033592111	0.00329	0.02512	0.07007	N	AEFBI	.	.	.	-1.64159329193304	0.01071	0.04647693	-1.73696083434686	0.00983	0.04405563	0.00475530842986958	0.10700	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	-5.81	0.02148	-2.686000	0.00905	-13.511000	0.00454	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1196:0.2724:0.3702:0.2378	2.251	0.03797	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3543.43	326	chr14	104950410	.	C	G	3543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.26;DP=2820;ExcessHet=0;FS=25.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.92;MQRankSum=-10.34;QD=10.58;ReadPosRankSum=-5.143;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:94,0:94:99:.:.:0,120,1800:.	9	0	1	0
chr14	104952240	104952240	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2911G:p.L971V,AHNAK2:NM_138420:exon7:c.C3211G:p.L1071V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.0263578	0.0090	0.0298	0.0034	0.0361	0.0021	0.0017	0.0112	0.0183	0.0008732	135	154602	rs201871830	6.524e-05	0.0015	6.97e-05	6.075e-05	0.0009	5.45e-05	5.061e-05	0.0005	0.0004	0.0007	0.0001	0	0.0003	1.88e-05	0.0009	1.801e-05	0.0003	0.0001	0.0005	0.0078	0.0006	0.0005	0.0025	0.0004	0.0004	0.0014	0.0011	0.0014	0	0.0003	0	0.0025	9.535e-05	0.0074	4.485e-05	0	0.0013	0.603	0.05584	T	0.589	0.08245	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	5.76	0.00695	T	-0.41	0.14000	N	0.093	0.07262	-0.8568	0.51491	T	0.001	0.00408	T	9	0.0031139255	0.00052	T	.	.	.	0.044	0.11924	0.26	0.20315	0.0297737177859	0.01360	0.0025048685426689856	0.00232	.	.	0.181649789214	0.00110	T	0.020324	0.16021	T	-0.374297	0.03383	T	-0.775428	0.02594	T	0.000253335798148228	0.00002	T	0.279272	0.04852	T	0.014677103	0.00103	0.024301512	0.00448	0.014677103	0.00103	0.024301512	0.00447	-0.714	0.00732	T	.	.	0.067	0.02370	B	.	.	-3.143251	0.00007	0.001	0.49393409051630993	0.04202	0.00122	0.00764	N	AEFDBI	.	.	.	-3.54864545972126	0.00000	3.202762e-06	-3.59441405111093	0.00000	3.736556e-06	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.74	-7.47	0.01221	-4.250000	0.00303	-20.000000	0.00162	-12.057000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1326:0.4562:0.1897:0.2215	4.564	0.11571	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	34.43	85	chr14	104952240	.	G	C	34.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.155;DP=1305;ExcessHet=0;FS=54.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.08;MQRankSum=-14.49;QD=0.15;ReadPosRankSum=-5.373;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800:.	9	0	1	0
chr14	104952977	104952977	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A2174C:p.E725A,AHNAK2:NM_138420:exon7:c.A2474C:p.E825A	.	427	1073	22	0	0	22	0.0101476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00418181783463	.	.	0.0006	0.0002	0.0003	0.0002	0.0003	0.0008	0	0.0004	0.0004995	13	26028	rs557538603	0.0004	0.0012	0.0004	0.0005	0.0007	0.0004	0.0004	0.0005	0.0005	0.0006	0.0003	0.0003	0.0007	0.0002	0.0005	0.0005	0.0006	0.0002	0.0007	0.0014	0.0007	0.0006	0.0016	0.0005	0.0005	0.0008	0.0006	0.0006	0	0.0009	0	0.0016	0.0008	0.0034	0.0006	0.0014	0	0.388	0.10909	T	0.204	0.27235	T	0.004	0.12183	B	0.013	0.16460	B	.	.	.	.	1	0.20333	N	-0.55	0.02420	N	5.52	0.00903	T	-2.08	0.47514	N	0.034	0.00942	-0.9092	0.46952	T	0.003	0.00864	T	9	0.017416984	0.00372	T	0.004182	0.10058	T	0.011	0.01250	.	.	0.0138822411134	0.00435	0.020818251181630498	0.02034	.	.	0.221759021282	0.01414	T	0.01821	0.14721	T	-0.629668	0.00096	T	-0.775808	0.02583	T	0.0104382835114017	0.00144	T	0.343566	0.07491	T	0.033807296	0.03675	0.024376506	0.00457	0.033807296	0.03674	0.024376506	0.00457	-6.103	0.47133	T	.	.	0.091	0.12891	B	.	.	1.375127	0.17855	13.41	0.23827161102435712	0.01025	0.08032	0.14009	N	AEFBI	.	.	.	-1.01025711629951	0.08390	0.3932286	-1.06694074484801	0.08357	0.4105809	1.02282480529333E-4	0.05123	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	3.46	0.948	0.18685	0.943000	0.28628	-0.541000	0.08582	-0.800000	0.03169	0.003000	0.16062	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.2037:0.526	3.509	0.07259	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001603	0.000000	0.001359	0.000000	0.000000	0.000000	0.003145	0.003846	0.05	295.43	85	chr14	104952977	.	T	G	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.786;DP=1781;ExcessHet=0;FS=2.196;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.14;MQRankSum=-22.67;QD=0.47;ReadPosRankSum=1.41;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:53,0:53:99:.:.:0,120,1800:.	9	0	1	0
chr14	104953797	104953797	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G1354A:p.D452N,AHNAK2:NM_138420:exon7:c.G1654A:p.D552N	.	411	1040	68	3	0	74	0.0343547	.	.	.	2807606	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0069	0.00798722	0.0082	0.0015	0.0071	0	0.0005	0.0101	0.0111	0.0130	0.0078718	1217	154602	rs45448397	0.0073	0.0073	0.0069	0.0077	0.0406	0.0072	0.0071	0.0363	0.0347	0.0022	0.0066	0.0321	7.557e-05	0.0007	0.0406	0.0066	0.0105	0.0137	0.0067	0.0067	0.0067	0.0066	0.0110	0.0063	0.0062	0.0097	0.0092	0.0018	0	0.0110	0.0343	0.0006	0.0006	0.0306	0.0083	0.0114	0.0104	0.842	0.02796	T	0.408	0.14633	T	0.021	0.18474	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.03	0.03149	T	-0.08	0.08187	N	0.1	0.08227	-0.9097	0.46891	T	0.003	0.00832	T	9	0.0041176975	0.00081	T	.	.	.	0.019	0.03383	.	.	0.0297737177859	0.01360	0.0316760095331914	0.03116	.	.	0.185123771429	0.00150	T	0.022655	0.17431	T	-0.727118	0.00025	T	-0.8062	0.01752	T	0.00461407943591834	0.00049	T	0.309269	0.05988	T	0.016435066	0.00197	0.024356974	0.00454	0.016435066	0.00197	0.024356974	0.00454	-4.588	0.32020	T	.	.	0.109	0.20934	B	.	.	-0.342790	0.02437	0.277	0.97984752298087319	0.37356	0.08243	0.14197	N	AEFDBI	0.071796	0.14307	N	-1.45363581998287	0.02188	0.09635179	-1.48412917277304	0.02474	0.1138519	0.07631154992444	0.15723	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.96	-3.51	0.04397	-1.192000	0.03161	-2.796000	0.03352	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.105:0.2143:0.4064:0.2743	3.143	0.06076	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031219	0.000000	0.031250	0.058480	0.150000	0.060345	0.021341	0.026515	0.1	6144.14	85	chr14	104953797	.	C	T	6144.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.446;DP=1204;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.143;SOR=0.685	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	8	0	2	0
chr14	104954210	104954210	A	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T941G:p.L314R,AHNAK2:NM_138420:exon7:c.T1241G:p.L414R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0033054467023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.322	0.19016	T	0.059	0.23051	B	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.22	0.02640	T	-0.78	0.21644	N	0.144	0.14480	-0.9040	0.47561	T	0.004	0.01330	T	9	0.064493835	0.08562	T	0.003305	0.07329	T	0.018	0.03083	0.331	0.31681	0.0297737177859	0.01360	0.32141904285636813	0.32054	.	.	0.219350218773	0.01273	T	0.022798	0.17514	T	-0.319046	0.06975	T	-0.696064	0.06043	T	0.0919362600325028	0.11445	T	0.259774	0.04142	T	0.06350937	0.13378	0.063300975	0.12517	0.06350937	0.13378	0.063300975	0.12517	-3.047	0.10696	T	.	.	0.076	0.06159	B	.	.	-0.819243	0.01069	0.047	0.84227161724152089	0.15169	0.01201	0.04282	N	AEFBI	.	.	.	-1.72819458600529	0.00746	0.03223131	-1.80533530045611	0.00742	0.0330801	0.802334429205407	0.24208	0.706548	0.73137	0	0.59043	0.45803	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.77	-7.85	0.01056	-0.999000	0.03808	-2.141000	0.04152	-0.797000	0.03199	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1038:0.1041:0.2031:0.589	4.537	0.11438	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1179.43	85	chr14	104954210	.	A	C	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.714;DP=704;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.42;SOR=0.744	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	9	0	1	0
chr14	104994748	104994748	G	A	exonic	CLBA1	.	nonsynonymous SNV	CLBA1:NM_174891:exon5:c.G967A:p.D323N	.	411	1096	14	1	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00317260751494	8.3e-05	0.000599042	0.0005	0	0.0006	0	0	0.0004	0	0.0016	0.0004722	73	154602	rs200272722	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0040	3.085e-05	0.0005	0	0	0	0.0062	0.0002	0.0007	0.0018	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0014	0.0011	2.406e-05	0	0.0004	0	0	9.416e-05	0	0.0003	0.0009	0.0025	0.507	0.08762	T	0.412	0.14456	T	0.606	0.39465	P	0.031	0.21939	B	0.936976	0.08380	N	0.959023	1	0.08975	N	.	.	.	.	.	.	-1.65	0.47008	N	0.059	0.04188	-1.0289	0.20811	T	0.030	0.12804	T	9	0.006056577	0.00136	T	0.003173	0.06936	T	0.051	0.14325	.	.	0.0297737177859	0.01360	0.24883442652854282	0.24797	0.117908866914	0.13276	.	.	.	0.072555	0.34482	T	-0.591096	0.00165	T	-0.646472	0.09203	T	0.014728854302732	0.00307	T	0.536546	0.19140	T	0.059315845	0.12040	0.034095634	0.02415	0.059315845	0.12039	0.034095634	0.02415	-3.299	0.13724	T	.	.	0.145	0.31980	B	.;.;.	.;.;.	0.204959	0.05893	2.333	0.85221806567649572	0.15760	0.05460	0.11339	N	AEFBCI	0.025915	0.01855	N	-0.998479758405893	0.08637	0.4056948	-1.09236291925277	0.07850	0.3835069	0.999396745369358	0.39470	0.651	0.46895	0	0.588066	0.40923	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	3.67	-0.564	0.11185	-0.027000	0.12319	0.989000	0.23179	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.4312:0.0:0.5688:0.0	7.000	0.23982	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.005435	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	991.43	39	chr14	104994748	.	G	A	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.929;DP=444;ExcessHet=0;FS=1.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.307;SOR=0.526	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1003,0,1006	9	0	1	0
chr14	105175985	105175985	T	C	exonic	NUDT14	.	nonsynonymous SNV	NUDT14:NM_001318380:exon5:c.A431G:p.D144G	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450284065	8.938e-06	8.209e-06	3.497e-06	1.463e-05	9.356e-05	4.52e-06	3.3e-06	4.379e-05	3.091e-05	0	0	0	0	0	0	3.302e-06	0	9.356e-05	6.572e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1174.43	34	chr14	105175985	.	T	C	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=466;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=0.142;SOR=0.521	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr14	105493850	105493850	C	T	exonic	TEDC1	.	nonsynonymous SNV	TEDC1:NM_001134875:exon5:c.C601T:p.R201C,TEDC1:NM_001367178:exon5:c.C601T:p.R201C	.	428	1052	41	1	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0023	0.0081869	0.0063	0.0020	0.0033	0.0001	0.0016	0.0046	0.0104	0.0229	0.0054721	846	154602	rs118022421	0.0043	0.0043	0.0038	0.0049	0.0217	0.0042	0.0042	0.0208	0.0205	0.0020	0.0033	0.0048	0.0001	0.0014	0.0198	0.0032	0.0061	0.0217	0.0035	0.0035	0.0033	0.0037	0.0183	0.0033	0.0032	0.0152	0.0141	0.0017	0	0.0047	0.0066	0.0002	0.0017	0.0171	0.0036	0.0057	0.0183	0.059	0.45039	T	0.004	0.83351	D	0.999	0.77913	D	0.764	0.56591	P	0.064810	0.02182	N	2.001050	1	0.08975	N	.	.	.	.	.	.	-3.3	0.77143	D	0.165	0.29429	-1.0384	0.17802	T	0.081	0.31913	T	9	0.005352378	0.00117	T	.	.	.	0.072	0.21020	.	.	0.254761474806	0.25079	0.10644456044551831	0.10574	0.0186173050877	0.01812	.	.	.	0.057185	0.30495	T	-0.398785	0.02358	T	-0.329347	0.41542	T	0.022512283648584	0.00967	T	0.915408	0.70532	D	0.13811046	0.31954	0.08930856	0.20877	0.13811046	0.31954	0.08930856	0.20876	-5.798	0.44557	T	.	.	0.132	0.42806	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.156229	0.27469	17.47	0.99686127378478306	0.79574	0.04473	0.10084	N	AEFBCI	0.102646	0.20585	N	-0.45759505220874	0.23484	1.261407	-0.687308798504235	0.17277	0.9179845	0.99958066070294	0.40607	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.37	0.148	0.14137	-0.558000	0.06069	0.043000	0.13895	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2255:0.5452:0.0:0.2293	2.895	0.05340	940	0.13648	Domain of unknown function DUF4509;Domain of unknown function DUF4509;Domain of unknown function DUF4509;.;Domain of unknown function DUF4509;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023209	0.010309	0.017711	0.029240	0.050000	0.025862	0.024390	0.022727	0.05	1432.43	33	chr14	105493850	.	C	T	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.624;DP=505;ExcessHet=0;FS=3.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.5;ReadPosRankSum=1.3;SOR=0.484	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	330.53	38	chr15	20534613	.	C	*	330.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.318;DP=776;ExcessHet=7.0302;FS=3.819;InbreedingCoeff=-0.538;MLEAC=4;MLEAF=0.2;MQ=53.59;MQRankSum=0.13;QD=0.56;ReadPosRankSum=1.28;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1086:.	6	0	4	0
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	492.44	26	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	*	492.44	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.2;DP=732;ExcessHet=4.5998;FS=5.412;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=2.32;QD=1.26;ReadPosRankSum=0.05;SOR=0.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1086:.	6	0	4	0
chr15	20534636	20534636	C	0	exonic	GOLGA6L6	.	.	.	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	140.44	26	chr15	20534636	.	C	*	140.44	.	AC=6;AF=0.3;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=6;MLEAF=0.3;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1086:.	4	0	6	0
chr15	20534636	20534636	C	T	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.G1798A:p.E600K	.	491	642	369	8	12	397	0.230677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0985	0.0379	0.0443	0.0345	0	0.1173	0.075	0.1074	3.84e-05	1	26028	rs59357493	0.0004	0.0037	0.0004	0.0004	0.0004	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0008	8.251e-05	0.0002	0	0.0004	0.0003	0.0001	0.0003	0.0023	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0004	0	0.0003	0.0006	0	0.0004	0	0	.	.	.	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	0.952094	0.26450	N	.	.	.	.	.	.	.	.	.	0.038	0.01203	-0.9532	0.40416	T	0.018	0.07234	T	8	0.0031652749	0.00053	T	.	.	.	.	.	.	.	.	.	0.006455172404675729	0.00613	.	.	0.596014380455	0.52342	T	0.010734	0.09664	T	-0.287572	0.09881	T	-0.650854	0.08894	T	0.0059799908030151	0.00066	T	0.616838	0.23625	T	0.02425393	0.01240	0.07338568	0.15941	0.02425393	0.01240	0.07338568	0.15940	-5.889	0.45341	T	.	.	0.097	0.16010	B	.	.	0.675370	0.10439	7.159	0.48367211772638852	0.04030	0.01228	0.04347	N	AEFI	0.033541	0.04001	N	-1.15607587781134	0.05680	0.2595916	-1.27412629120167	0.04783	0.2264471	2.61148922613955E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.301000	0.08269	-1.086000	0.06374	-0.793000	0.03229	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9994:0.0:6.0E-4	5.950	0.18479	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.059633	0.024590	0.040000	0.015152	0.000000	0.055556	0.066038	0.138889	0.05	140.44	26	chr15	20534636	.	C	T	140.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=697;ExcessHet=7.0302;FS=2.644;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.05;MQ=52.8;MQRankSum=1.45;QD=0.34;ReadPosRankSum=-2.568;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1086:.	9	0	1	0
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	439.07	23	chr15	20534647	.	C	*	439.07	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.7;DP=659;ExcessHet=2.8389;FS=2.002;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=54.15;MQRankSum=-0.327;QD=1.44;ReadPosRankSum=-1.348;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:22,0:36:99:0|1:20534647_C_T:450,514,1207:20534647	6	0	4	0
chr15	20534648	20534648	G	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	46.66	22	chr15	20534648	.	G	*	46.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=2.85;DP=628;ExcessHet=2.8389;FS=1.057;InbreedingCoeff=-0.3798;MLEAC=4;MLEAF=0.222;MQ=52.47;MQRankSum=-0.616;QD=0.15;ReadPosRankSum=-1.461;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,108,1620:.	5	0	4	1
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	325.26	19	chr15	20534663	.	G	*	325.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=2.61;DP=602;ExcessHet=2.8389;FS=4.134;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.5;MQRankSum=1.19;QD=1.05;ReadPosRankSum=-3.135;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:60:.:.:0,60,900:.	6	0	4	0
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	294.26	18	chr15	20534667	.	C	*	294.26	.	AC=4;AF=0.2;AN=20;BaseQRankSum=3.06;DP=595;ExcessHet=2.8389;FS=4.186;InbreedingCoeff=-0.355;MLEAC=4;MLEAF=0.2;MQ=51.27;MQRankSum=0.972;QD=0.95;ReadPosRankSum=-3.043;SOR=0.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:60:.:.:0,60,900:.	6	0	4	0
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	260.88	18	chr15	20534668	.	CTT	*	260.88	.	AC=4;AF=0.222;AN=18;BaseQRankSum=3.11;DP=585;ExcessHet=2.8389;FS=3.461;InbreedingCoeff=-0.4026;MLEAC=4;MLEAF=0.222;MQ=51.13;MQRankSum=0.72;QD=0.84;ReadPosRankSum=-2.27;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:60:.:.:0,60,900:.	5	0	4	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	160.14	18	chr15	20534672	.	T	*	160.14	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.99;DP=547;ExcessHet=2.8389;FS=2.258;InbreedingCoeff=-0.341;MLEAC=4;MLEAF=0.2;MQ=48.12;MQRankSum=-0.202;QD=0.53;ReadPosRankSum=-2.418;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:24,0:24:60:.:.:0,60,900:.	6	0	4	0
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	122.3	13	chr15	20534676	.	C	*	122.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.18;DP=520;ExcessHet=2.8389;FS=2.964;InbreedingCoeff=-0.4288;MLEAC=5;MLEAF=0.313;MQ=48.9;MQRankSum=-0.109;QD=0.4;ReadPosRankSum=1.75;SOR=0.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:19,0:19:57:.:.:0,57,608:.	4	0	4	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	258.08	13	chr15	20534684	.	G	*	258.08	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.265;DP=508;ExcessHet=2.8389;FS=5.277;InbreedingCoeff=-0.3337;MLEAC=4;MLEAF=0.2;MQ=46.37;MQRankSum=-1.226;QD=0.84;ReadPosRankSum=0.041;SOR=0.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:12,0:20:99:0|1:20534647_C_T:269,305,789:20534647	6	0	4	0
chr15	20535676	20535676	G	A	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.C758T:p.A253V	.	903	606	10	3	0	16	0.0130293	.	.	.	2331833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00135336302404	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302792346	0.0073	0.0097	0.0064	0.0081	0.0242	0.0071	0.0070	0.0230	0.0226	0.0017	0.0031	0.0423	0.0021	6.566e-05	0.0099	0.0050	0.0081	0.0242	0.0052	0.0045	0.0051	0.0054	0.0223	0.0049	0.0047	0.0178	0.0162	0.0012	0.0260	0.0062	0.0504	0.0027	0	0.0055	0.0043	0.0071	0.0223	.	.	.	0.165	0.30926	T	.	.	.	.	.	.	.	.	.	.	0.999969	0.18878	N	.	.	.	.	.	.	.	.	.	0.025	0.00485	-0.9685	0.37510	T	0.013	0.05129	T	7	0.06213656	0.07898	T	0.001353	0.01936	T	.	.	.	.	0.0297737177859	0.01360	0.002610010390796344	0.00242	.	.	0.495142906904	0.38151	T	0.012942	0.11287	T	-0.388247	0.02761	T	-0.795466	0.02018	T	0.00822341605707464	0.00098	T	0.440756	0.12177	T	0.034567785	0.03903	0.09967183	0.23806	0.034567785	0.03903	0.09967183	0.23806	-4.904	0.35780	T	.	.	0.142	0.31253	B	.	.	-0.558998	0.01687	0.122	0.39597292329315309	0.02742	0.00189	0.01098	N	AEFI	0.017556	0.00468	N	-1.55047642574625	0.01532	0.06689154	-1.68353583424012	0.01212	0.05457186	5.21244997230675E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-5.508000	0.00140	-0.222000	0.10754	-3.581000	0.00074	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05556	259.62	12	chr15	20535676	.	G	A	259.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.03;DP=90;ExcessHet=0;FS=1.569;MLEAC=1;MLEAF=0.056;MQ=26.15;MQRankSum=-0.784;QD=10.82;ReadPosRankSum=0.203;SOR=0.412	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	0	1	1
chr15	20536401	20536401	G	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon7:c.C685G:p.Q229E	.	611	860	46	5	0	56	0.0315315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00125694464534	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458486201	0.0079	0.0074	0.0076	0.0082	0.0382	0.0078	0.0077	0.0331	0.0311	0.0019	0.0161	0.0452	3.522e-05	0.0024	0.0382	0.0070	0.0131	0.0079	0.0122	0.0096	0.0120	0.0123	0.0362	0.0115	0.0113	0.0322	0.0307	0.0022	0.0019	0.0362	0.0658	0	0.0025	0.0330	0.0126	0.0347	0.0083	.	.	.	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	.	.	.	.	.	.	0.083	0.05929	-1.0112	0.26541	T	0.023	0.09741	T	8	0.00540784	0.00119	T	0.001257	0.01708	T	.	.	.	.	0.0138822411134	0.00435	0.0049867945419221	0.00470	.	.	0.586864173412	0.51052	T	0.014193	0.12131	T	-0.237202	0.15708	T	-0.578501	0.14679	T	0.262614488601685	0.23428	T	0.546045	0.18695	T	0.16264509	0.36354	0.16305888	0.37845	0.16264509	0.36353	0.16305888	0.37844	-6.442	0.49836	T	.	.	0.110	0.21315	B	.	.	1.753451	0.22303	15.57	0.67537901567902892	0.08385	0.09628	0.15341	N	AEFI	0.050648	0.08872	N	-0.628359280263332	0.18096	0.9367552	-0.808476766559945	0.14290	0.7459121	1.09775152741156E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	1.635000	0.36747	3.018000	0.35990	0.345000	0.19837	0.971000	0.34370	0.996000	0.32793	0.008000	0.08271	.	.	.	1000	0.00083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	852.12	34	chr15	20536401	.	G	C	852.12	.	AC=2;AF=0.1;AN=20;DP=331;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=51.35;QD=25.82;SOR=0.88	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,547	9	1	0	0
chr15	20866179	20866179	A	G	exonic	POTEB;POTEB2	.	nonsynonymous SNV	POTEB2:NM_001277303:exon1:c.T103C:p.C35R,POTEB:NM_001277304:exon1:c.T103C:p.C35R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00444021853576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226541084	0.0017	0.0020	0.0018	0.0016	0.0027	0.0016	0.0016	0.0023	0.0022	0.0007	0.0008	0.0008	0	0.0006	0.0027	0.0025	0.0018	0.0004	0.0015	0.0008	0.0018	0.0011	0.0013	0.0004	0.0002	.	.	0	0	0	0	0	0.0069	0	0.0013	0	0	0.0	0.91255	D	0.047	0.48855	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.485	0.72352	M	1.39	0.33842	T	-1.7	0.40468	N	0.266	0.30118	.	.	.	.	.	.	.	0.020167887	0.00461	T	0.00444	0.10875	T	.	.	.	.	0.0675242888579	0.06100	0.008528429185195708	0.00816	2.79487049805	0.98869	0.51689273119	0.41189	T	0.013947	0.11965	T	-0.114487	0.34028	T	-0.402229	0.33126	T	.	.	.	0.542646	0.18460	T	0.18166505	0.39349	0.2775771	0.53712	0.18166505	0.39348	0.2775771	0.53711	-8.718	0.65863	D	.	.	0.156	0.34449	B	.	.	1.577849	0.20196	14.63	0.96234075534474162	0.29129	0.00178	0.01045	N	AEFI	0.038682	0.05509	N	.	.	.	.	.	.	1.25753755028051E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.462	0.462	0.15906	-0.393000	0.07366	0.188000	0.15711	0.262000	0.18416	0.025000	0.20085	0.001000	0.17328	0.115000	0.18958	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.43	2	chr15	20866179	.	A	G	32.43	.	AC=2;AF=0.1;AN=20;DP=25;ExcessHet=0;FS=0;InbreedingCoeff=0.2795;MLEAC=1;MLEAF=0.05;MQ=27;QD=32.43;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,28:.	9	1	0	0
chr15	21439909	21439909	A	G	exonic	POTEB3	.	nonsynonymous SNV	POTEB3:NM_207355:exon1:c.T103C:p.C35R	.	408	1109	4	0	1	5	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00265986708043	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200301581	0.0017	0.0040	0.0018	0.0017	0.0021	0.0017	0.0017	0.0021	0.0020	0.0005	0.0006	0.0003	0	0.0003	0.0005	0.0021	0.0016	0.0001	0.0014	0.0028	0.0014	0.0013	0.0025	0.0012	0.0012	0.0022	0.0021	0.0006	0	0.0005	0.0006	0	0.0002	0	0.0025	0.0005	0.0006	.	.	.	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.055375606	0.06041	T	0.00266	0.05434	T	.	.	.	.	0.394384168047	0.39052	0.0025569505950092174	0.00237	.	.	0.529879927635	0.43018	T	0.032381	0.22461	T	-0.117157	0.33589	T	-0.406064	0.32680	T	.	.	.	0.50225	0.15758	T	0.18166505	0.39349	0.2775771	0.53712	0.18166505	0.39348	0.2775771	0.53711	-9.641	0.71734	D	.	.	0.117	0.23605	B	.	.	1.066504	0.14488	11.06	0.95980307381909613	0.28357	0.00158	0.00946	N	AEFI	0.038682	0.05509	N	.	.	.	.	.	.	1.25753755028051E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.462	0.462	0.15906	-0.112000	0.10762	-0.078000	0.12213	0.256000	0.18359	0.007000	0.17678	0.000000	0.08366	0.054000	0.15518	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	536.43	42	chr15	21439909	.	A	G	536.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.906;DP=1857;ExcessHet=0;FS=4.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.41;MQRankSum=-9.827;QD=0.84;ReadPosRankSum=2.87;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:311,0:311:99:.:.:0,120,1800:.	9	0	1	0
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	2693.45	44	chr15	21652117	.	A	C	2693.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.257;DP=512;ExcessHet=0.7463;FS=1.551;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=27.93;MQRankSum=0.588;QD=10.48;ReadPosRankSum=-0.645;SOR=0.587	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,716	7	0	3	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	4672.45	45	chr15	21652190	.	C	T	4672.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=5.18;DP=794;ExcessHet=0.7463;FS=3.219;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.36;MQRankSum=-0.274;QD=9.94;ReadPosRankSum=0.342;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	7	0	3	0
chr15	21652257	21652257	G	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G374A:p.G125E	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482902508	0.0043	0.0045	0.0045	0.0041	0.0057	0.0041	0.0041	0.0055	0.0055	0.0011	0.0021	0.0001	0.0033	0.0023	0.0010	0.0057	0.0039	0.0006	0.0036	0.0040	0.0040	0.0031	0.0058	0.0033	0.0032	0.0048	0.0046	0.0014	0	0.0046	0	0.0058	0.0006	0	0.0053	0.0048	0.0003	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000211	0.47681	D	0.000000	0.787422	0.29264	N	.	.	.	.	.	.	.	.	.	0.546	0.57263	-1.1184	0.02435	T	0.002	0.00738	T	10	0.009637654	0.00217	T	.	.	.	.	.	.	.	0.251116650651	0.24721	0.23882760793853866	0.23796	.	.	0.301523327827	0.10628	T	.	.	.	-0.20582	0.19972	T	-0.0658111	0.65924	T	0.0598858983408519	0.07150	T	0.958604	0.84374	D	.	.	.	.	.	.	.	.	-7.682	0.58882	D	.	.	0.315	0.54116	B	.;.	.;.	4.188128	0.63098	24.5	0.99722990060315986	0.82195	0.53934	0.29492	D	AEFHCI	.	.	.	0.342479837963927	0.58343	4.006032	0.165524242235621	0.47969	3.019448	0.0181718861595087	0.13029	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	0.367000	0.20116	5.030000	0.46819	0.299000	0.18918	0.003000	0.16062	1.000000	0.68203	0.940000	0.48062	0.0:0.0:1.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1061.43	45	chr15	21652257	.	G	A	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.46;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.17;MQRankSum=0.94;QD=9.74;ReadPosRankSum=-0.402;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1252	9	0	1	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	7009.45	45	chr15	21652283	.	G	C	7009.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.403;DP=748;ExcessHet=0.7463;FS=1.126;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.75;MQRankSum=-0.654;QD=16.26;ReadPosRankSum=0.351;SOR=0.573	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1252:.	7	0	3	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	6840.45	45	chr15	21652290	.	C	A	6840.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.047;DP=731;ExcessHet=0.7463;FS=2.52;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=32.6;MQRankSum=-0.426;QD=16.36;ReadPosRankSum=0.36;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1252:.	7	0	3	0
chr15	22080904	22080904	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T280C:p.F94L	.	673	824	9	16	0	41	0.0242747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	.	0.0127	.	0.0346	0.0303	0.0346	0.1808	0.0218	0.0204	0.0453	0.0225	0.0287124	4439	154602	rs75967710	0	3.171e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.30143	T	0.779	0.44223	P	0.23	0.38212	B	0.000188	0.48115	D	0.000000	1	0.08975	N	1.46	0.36832	L	.	.	.	.	.	.	0.079	0.05414	-0.9131	0.46467	T	0.000	0.00011	T	10	0.0025030375	0.00038	T	.	.	.	.	.	0.51	0.60693	.	.	0.08228647535963951	0.08163	.	.	.	.	.	0.007686	0.07080	T	-0.644272	0.00078	T	-0.675916	0.07235	T	0.042197753455248	0.04092	T	0.815918	0.47089	T	0.170682	0.37658	0.20747757	0.45008	0.170682	0.37658	0.20747757	0.45007	-4.798	0.34568	T	.	.	0.655	0.71111	P	.	.	3.455234	0.48129	22.6	0.97555231184666047	0.34593	0.28674	0.23618	N	AEFGBHCI	0.106858	0.21307	N	-0.147224762427349	0.35353	2.029546	-0.209237419650798	0.31203	1.763728	0.572346006568893	0.21503	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	1.042000	0.29914	3.341000	0.37707	0.298000	0.18894	0.001000	0.13787	0.999000	0.35428	0.572000	0.30699	0.0:0.0:0.0:1.0	8.582	0.32798	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.030715	0.040404	0.028533	0.011696	0.000000	0.034483	0.042683	0.045455	0.05556	199.27	35	chr15	22080904	.	T	C	199.27	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.82;DP=464;ExcessHet=0;FS=45.653;MLEAC=1;MLEAF=0.056;MQ=52.26;MQRankSum=-6.659;QD=0.95;ReadPosRankSum=0.535;SOR=5.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1366:.	8	0	1	1
chr15	22080911	22080911	G	A	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.G287A:p.G96E	.	675	821	9	17	0	43	0.0255193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.5590	.	0.6277	0.4486	0.6942	0.5643	0.6854	0.6454	0.6578	0.6311	0.042632	6591	154602	rs1835183	2.2e-05	1.902e-05	4.57e-05	0	3.824e-05	0	0	.	.	0	0	0	0	0	0	3.824e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	0.97	0.56973	D	0.735	0.55480	P	0.000225	0.47286	D	0.000000	1	0.08975	P	2.535	0.73915	M	.	.	.	.	.	.	0.096	0.07673	-1.0465	0.15389	T	0.000	0.00011	T	9	0.003199637	0.00054	T	.	.	.	.	.	.	.	.	.	0.365153052791839	0.36429	.	.	.	.	.	0.011273	0.10082	T	-0.166378	0.25784	T	-0.476767	0.24791	T	0.0259915178302949	0.01405	T	0.205079	0.02403	T	0.24576344	0.47538	0.2498259	0.50562	0.24576344	0.47538	0.2498259	0.50561	-6.201	0.47931	T	.	.	0.171	0.37520	B	.	.	4.079812	0.60676	24.2	0.99452379572606597	0.65325	0.11299	0.16541	N	AEFGBHCI	0.080630	0.16304	N	0.092529792346906	0.46114	2.85693	-0.0680915481882996	0.36717	2.140422	0.54334032595325	0.21271	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.132000	0.15716	8.345000	0.77002	0.303000	0.18983	0.006000	0.17386	1.000000	0.68203	0.512000	0.29290	0.0:0.0:1.0:0.0	10.808	0.45732	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.599698	0.570707	0.581522	0.602339	0.600000	0.594828	0.655488	0.606061	0.05556	231.27	35	chr15	22080911	.	G	A	231.27	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.6;DP=488;ExcessHet=0;FS=38.852;MLEAC=1;MLEAF=0.056;MQ=52.09;MQRankSum=-7.186;QD=1.01;ReadPosRankSum=0.542;SOR=4.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1366:.	8	0	1	1
chr15	22081006	22081006	C	T	exonic	OR4M2	.	stopgain	OR4M2:NM_001004719:exon1:c.C382T:p.R128X	.	672	794	37	19	0	75	0.0450992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0185	0.0505192	0.0325	0.0296	0.0345	0.1538	0.0218	0.0204	0.0453	0.0219	0.0290876	4497	154602	rs78256866	0	3.064e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000185	0.48115	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.009	0.00081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0937667	0.63611	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.792551	0.95741	35	0.99832391884684535	0.91370	0.47264	0.27944	N	AEFDGBCI	0.235043	0.35770	N	0.608319707800418	0.73699	6.009183	0.352040610194453	0.58631	4.034739	0.523553565198187	0.21116	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.566000	0.23296	-0.743000	0.07611	0.271000	0.18527	0.000000	0.06391	0.000000	0.08366	0.632000	0.32210	0.2821:0.7179:0.0:0.0	6.679	0.22300	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.029234	0.035354	0.027174	0.011765	0.000000	0.034483	0.042683	0.045455	0.0625	1512.78	35	chr15	22081006	.	C	T	1512.78	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.558;DP=527;ExcessHet=0;FS=3.624;MLEAC=1;MLEAF=0.063;MQ=44.9;MQRankSum=-10.01;QD=5.75;ReadPosRankSum=3.85;SOR=0.59	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1366	7	0	1	2
chr15	22081181	22081181	G	A	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.G557A:p.R186Q	.	560	917	36	9	0	54	0.0286017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0133	.	0.0323	0.0299	0.0344	0.1519	0.0218	0.0203	0.0453	0.0218	0.0104119	271	26028	rs112370472	1.583e-05	2.596e-05	3.436e-05	0	2.738e-05	2.63e-06	9.9e-07	4.54e-06	1.7e-06	0	0	0	0	0	0	2.738e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.48594	D	0.027	0.19556	B	0.025	0.20508	B	0.000336	0.45700	D	0.000000	0.982304	0.24974	N	0.43	0.12624	N	.	.	.	.	.	.	0.066	0.03841	-0.9654	0.38132	T	0.000	0.00011	T	10	0.0017219782	0.00022	T	.	.	.	.	.	.	.	.	.	0.23905920919614257	0.23819	.	.	.	.	.	0.006572	0.05999	T	-0.615257	0.00118	T	-0.63492	0.10044	T	0.0208086093620371	0.00781	T	0.630337	0.24523	T	0.07212918	0.16020	0.11710262	0.28269	0.07212918	0.16020	0.11710262	0.28268	-4.671	0.33051	T	.	.	0.086	0.10931	B	.	.	3.124930	0.42199	21.5	0.99834674602958939	0.91628	0.06708	0.12729	N	AEFGBCI	.	.	.	-0.580585229479446	0.19534	1.023148	-0.517038118105351	0.21690	1.17457	0.978852491937488	0.29965	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.173000	0.16538	0.158000	0.15372	0.303000	0.18983	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1658:0.0:0.8342:0.0	5.349	0.15328	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029630	0.035354	0.027174	0.012295	0.000000	0.034483	0.042945	0.045455	0.05	202.51	35	chr15	22081181	.	G	A	202.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=292;ExcessHet=0;FS=1.38;InbreedingCoeff=-0.0593;MLEAC=1;MLEAF=0.05;MQ=30.42;MQRankSum=-3.144;QD=5.47;ReadPosRankSum=-1.828;SOR=0.451	GT:AD:DP:GQ:PL	0/0:18,0:18:48:0,48,720	9	0	1	0
chr15	22081228	22081228	A	T	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.A604T:p.S202C	.	521	957	35	9	0	53	0.0269446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	.	0.0173	.	0.0323	0.0301	0.0344	0.1521	0.0218	0.0204	0.0453	0.0219	0.0273541	4229	154602	rs79101657	0	4.097e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.981	0.75168	D	0.000013	0.62929	D	0.000000	0.586907	0.32422	D	0.905	0.23240	L	.	.	.	.	.	.	0.076	0.05037	-0.3640	0.73144	T	0.000	0.00011	T	10	0.0023354292	0.00034	T	.	.	.	.	.	.	.	.	.	0.30315144890699713	0.30228	.	.	.	.	.	0.008564	0.07859	T	-0.564254	0.00239	T	-0.561659	0.16222	T	0.0384421845010854	0.03411	T	0.861714	0.55578	D	0.20311423	0.42378	0.24912716	0.50477	0.20311423	0.42378	0.24912716	0.50476	-4.232	0.27212	T	.	.	0.121	0.25067	B	.	.	3.854838	0.55867	23.7	0.98295364329275925	0.39992	0.26930	0.23134	N	AEFGBCI	.	.	.	-0.00935321865655644	0.41431	2.478048	-0.133010117939739	0.34069	1.955644	0.986907717140307	0.31148	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	2.5	0.29355	0.364000	0.20053	3.314000	0.37488	0.334000	0.19664	0.000000	0.06391	0.013000	0.20296	0.777000	0.36790	1.0:0.0:0.0:0.0	8.582	0.32798	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028013	0.025253	0.027174	0.008197	0.000000	0.034483	0.042683	0.045455	0.05	347.45	42	chr15	22081228	.	A	T	347.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.71;DP=334;ExcessHet=0;FS=3.339;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=29.93;MQRankSum=-2.03;QD=7.09;ReadPosRankSum=0.896;SOR=1.385	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,792	9	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1855,171,0	0	9	1	0
chr15	22534159	22534159	C	T	exonic	HERC2	.	unknown	UNKNOWN	Mental retardation, autosomal recessive 38, Autosomal recessive	58	167	0	1	0	2	0.00595238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163305692	0.0002	0.0007	0.0001	0.0002	0.0011	0.0001	0.0001	0.0002	0.0001	0.0009	0.0002	0.0001	0.0002	0	0.0011	0.0001	0.0003	0.0002	0.0001	0.0009	0.0001	0.0001	0.0005	4.756e-05	2.791e-05	4.21e-05	2.238e-05	0.0005	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	164.78	8	chr15	22534159	.	C	T	164.78	.	AC=2;AF=0.111;AN=18;DP=48;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.111;MQ=26.1;QD=27.46;SOR=3.912	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,133	8	1	0	1
chr15	22607710	22607710	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon19:c.T1729C:p.C577R	.	444	1070	8	0	0	8	0.00372439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000278837205708	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs575226800	0.0008	0.0017	0.0008	0.0008	0.0036	0.0007	0.0007	0.0030	0.0028	0.0036	0.0010	0.0004	0.0001	2.707e-05	0.0005	0.0007	0.0010	0.0008	0.0015	0.0022	0.0015	0.0016	0.0032	0.0014	0.0013	0.0028	0.0026	0.0032	0	0.0017	0	0.0002	0.0001	0	0.0010	0.0011	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	44.43	31	chr15	22607710	.	A	G	44.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.854;DP=225;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=29.63;MQRankSum=0.787;QD=1.53;ReadPosRankSum=0.664;SOR=0.693	GT:AD:DP:GQ:PL	0/0:22,0:22:57:0,57,855	9	0	1	0
chr15	22607800	22607800	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon18:c.G1723C:p.D575H	.	422	1046	50	4	0	58	0.0269767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440398018	0.0008	0.0030	0.0006	0.0010	0.0050	0.0007	0.0007	0.0046	0.0044	0.0001	0.0012	0.0003	0.0005	0.0007	0.0003	0.0005	0.0006	0.0050	0.0021	0.0058	0.0020	0.0022	0.0033	0.0019	0.0018	0.0026	0.0023	0.0014	0	0.0033	0.0018	0.0031	0.0024	0	0.0023	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	51.46	16	chr15	22607800	.	C	G	51.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.71;DP=148;ExcessHet=0;FS=8.506;InbreedingCoeff=-0.0557;MLEAC=1;MLEAF=0.05;MQ=25.23;MQRankSum=-1.647;QD=1.66;ReadPosRankSum=0.35;SOR=3.185	GT:AD:DP:GQ:PL	0/1:25,6:31:63:63,0,647	9	0	1	0
chr15	22609475	22609475	G	T	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon14:c.C1230A:p.N410K	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs530817654	0.0017	0.0018	0.0016	0.0018	0.0043	0.0016	0.0016	0.0031	0.0030	0.0015	0.0017	0.0033	0.0010	0.0018	0.0043	0.0015	0.0016	0.0034	0.0017	0.0018	0.0017	0.0017	0.0029	0.0015	0.0014	0.0018	0.0016	0.0011	0	0.0016	0.0029	0.0014	0.0013	0	0.0020	0.0029	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	669.43	35	chr15	22609475	.	G	T	669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=375;ExcessHet=0;FS=1.047;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.48;MQRankSum=-2.637;QD=12.63;ReadPosRankSum=-1.007;SOR=0.774	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	9	0	1	0
chr15	22612264	22612264	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon9:c.G613C:p.G205R	.	438	1075	8	1	0	10	0.00462963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs28599747	0.0005	0.0007	0.0004	0.0006	0.0042	0.0005	0.0005	0.0038	0.0037	9.235e-05	0.0002	0.0012	0.0021	0	0.0032	0.0002	0.0007	0.0042	0.0003	0.0005	0.0003	0.0003	0.0037	0.0003	0.0002	0.0024	0.0020	0.0001	0	6.539e-05	0.0009	0.0021	0	0	0.0002	0.0010	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1120.43	34	chr15	22612264	.	C	G	1120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.357;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.09;MQRankSum=-0.308;QD=14.74;ReadPosRankSum=-1.077;SOR=0.7	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	48.17	3	chr15	22768302	.	T	*	48.17	.	AC=3;AF=0.188;AN=16;BaseQRankSum=0.967;DP=23;ExcessHet=0.0673;FS=0;MLEAC=3;MLEAF=0.188;MQ=49.73;MQRankSum=-1.383;QD=6.88;ReadPosRankSum=-1.383;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,49:.	6	1	1	2
chr15	22768405	22768425	CCCCATCTGCTCCTCCTGCTT	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0002	0.0001	9.823e-05	0.0003	7.346e-05	5.861e-05	8.918e-05	6.756e-05	3.101e-05	0	0	0.0006	0.0003	0	0	0.0002	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	73.35	5	chr15	22768404	.	CCCCCATCTGCTCCTCCTGCTT	C	73.35	.	AC=2;AF=0.111;AN=18;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=59.34;QD=32.86;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:88,6,0	8	1	0	1
chr15	22768722	22768722	G	C	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1216470246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.0061	0.0034	0.0035	0.0049	0.0030	0.0029	0.0036	0.0033	0.0013	0.0178	0.0049	0.0012	0	0.0036	0.0167	0.0042	0.0097	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	100.03	3	chr15	22768722	.	G	C	100.03	.	AC=2;AF=0.143;AN=14;DP=32;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=48.32;QD=33.34;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,74:.	6	1	0	3
chr15	22769366	22769366	T	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	712	800	2	7	1	17	0.00990099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0008	0.0008	0.0008	0.0016	0.0007	0.0006	0.0008	0.0007	0.0002	0	0.0011	0.0029	0.0002	0.0007	0.0039	0.0010	0.0021	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	118.81	2	chr15	22769365	.	CT	C	118.81	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.056;MQ=52.79;MQRankSum=-0.831;QD=6.99;ReadPosRankSum=-0.475;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,32:.	8	0	1	1
chr15	22769365	22769366	CT	0	exonic	GOLGA6L7	.	.	.	.	712	800	2	7	1	17	0.00990099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	118.81	2	chr15	22769365	.	CT	*	118.81	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=5;MLEAF=0.278;MQ=52.79;MQRankSum=-0.831;QD=6.99;ReadPosRankSum=-0.475;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,32:.	6	2	1	1
chr15	22769369	22769388	CGCATCTGCTCCTCCTGCTT	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	718	794	2	7	1	17	0.00997506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0008	0.0008	0.0007	0.0017	0.0007	0.0006	0.0008	0.0006	0.0002	0	0.0011	0.0029	0.0002	0.0007	0.0039	0.0009	0.0021	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	119.3	5	chr15	22769368	.	CCGCATCTGCTCCTCCTGCTT	C	119.3	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.063;MQ=49.16;MQRankSum=-0.831;QD=7.95;ReadPosRankSum=-0.475;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,32:.	7	0	1	2
chr15	22769368	22769388	CCGCATCTGCTCCTCCTGCTT	0	exonic	GOLGA6L7	.	.	.	.	718	794	2	7	1	17	0.00997506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	119.3	5	chr15	22769368	.	CCGCATCTGCTCCTCCTGCTT	*	119.3	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=3;MLEAF=0.188;MQ=49.16;MQRankSum=-0.831;QD=7.95;ReadPosRankSum=-0.475;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,32:.	6	1	1	2
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	875.01	40	chr15	23361381	.	G	*	875.01	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.008;DP=747;ExcessHet=2.8389;FS=0.56;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=56.36;MQRankSum=-0.579;QD=1.81;ReadPosRankSum=2.14;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:95,0:95:99:.:.:0,120,1800:.	6	0	4	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	812.66	40	chr15	23361385	.	C	*	812.66	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.366;DP=726;ExcessHet=2.8389;FS=2.674;InbreedingCoeff=-0.3793;MLEAC=4;MLEAF=0.222;MQ=56.82;MQRankSum=0.504;QD=1.8;ReadPosRankSum=2.9;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:59,0:97:99:1|0:23361377_G_A:823,1000,3078:23361377	5	0	4	1
chr15	23364400	23364400	C	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766A:p.Q256K	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00481352493947	.	0.00299521	0.0033	0.0060	0.0025	0.0011	0.0026	0.0038	0.0069	0.0018	0.0028137	435	154602	rs190023905	0.0018	0.0029	0.0017	0.0019	0.0181	0.0018	0.0017	0.0152	0.0141	0.0021	0.0015	0.0135	0.0006	0.0021	0.0181	0.0015	0.0025	0.0015	0.0015	0.0024	0.0015	0.0015	0.0016	0.0013	0.0013	0.0013	0.0012	0.0003	0	0.0016	0.0135	0.0012	0.0019	0.0207	0.0015	0.0010	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.57	0.89692	D	-0.18	0.09796	N	0.184	0.19995	.	.	.	.	.	.	.	0.004205942	0.00084	T	0.004814	0.12035	T	.	.	.	.	0.86273415683	0.86140	0.3669056785769498	0.36604	0.763659519793	0.64390	.	.	.	.	.	.	-0.305839	0.08119	T	-0.231107	0.51665	T	.	.	.	0.476552	0.14308	T	0.04579843	0.07558	0.04903152	0.07407	0.04579843	0.07558	0.04903152	0.07407	-3.619	0.18132	T	.	.	0.075	0.05668	B	.	.	0.292315	0.06685	3.189	0.58087947744829294	0.05914	0.28105	0.23462	N	AEFCI	0.187209	0.31450	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	448.43	74	chr15	23364400	.	C	A	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.992;DP=702;ExcessHet=0;FS=2.831;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.4;MQRankSum=-7.547;QD=1.71;ReadPosRankSum=-0.383;SOR=0.92	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1325	9	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,23:91:99:.:.:779,0,2042:.	0	0	10	0
chr15	23440587	23440587	C	T	exonic	GOLGA6L2	.	nonsynonymous SNV	GOLGA6L2:NM_001304388:exon8:c.G1888A:p.G630R	.	377	1139	6	0	0	6	0.00262697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00273111869499	.	0.00139776	0.0051	0.0020	0.0036	0	0	0.0009	0	0.0097	0.0006145	95	154602	rs372129004	0.0007	0.0007	0.0005	0.0009	0.0076	0.0007	0.0006	0.0071	0.0069	0.0001	0.0014	0.0006	2.95e-05	0	0.0023	0.0002	0.0007	0.0076	0.0003	0.0004	0.0002	0.0004	0.0046	0.0003	0.0002	0.0031	0.0026	0	0	0.0004	0.0012	0	0	0	0.0002	0	0.0046	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.10975	T	1.69	0.00584	N	0.131	0.12627	.	.	.	.	.	.	.	0.0051416755	0.00112	T	0.002731	0.05637	T	.	.	.	.	0.188950314367	0.18478	0.013426868770001222	0.01300	0.0140065937379	0.01334	.	.	.	.	.	.	-0.375741	0.03313	T	-0.777502	0.02529	T	.	.	.	0.568443	0.20183	T	0.0704227	0.15511	0.19674455	0.43420	0.0704227	0.15511	0.19674455	0.43419	-5.287	0.39814	T	.	.	0.194	0.41526	B	.	.	1.518879	0.19502	14.30	0.83715655333144168	0.14879	0.00610	0.02709	N	AEFDBI	0.036510	0.04877	N	.	.	.	.	.	.	1.33875082419496E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-2.430000	0.01101	-1.440000	0.05434	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	720.43	125	chr15	23440587	.	C	T	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.046;DP=1136;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=0.567;QD=4.8;ReadPosRankSum=1.04;SOR=0.667	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	9	0	1	0
chr15	23441505	23441505	G	A	exonic	GOLGA6L2	.	stopgain	GOLGA6L2:NM_001304388:exon8:c.C970T:p.R324X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1472866797	1.764e-05	2.409e-05	2.211e-05	1.303e-05	6.995e-05	1.155e-05	9.86e-06	1.243e-05	1.001e-05	0	0	0	6.995e-05	0	0	1.943e-05	1.98e-05	0	1.408e-05	2.043e-05	1.374e-05	1.444e-05	3.082e-05	2.34e-06	8.8e-07	5.11e-06	1.91e-06	0	0	0	0	0	0	0	3.082e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11613	0.65982	D	-0.0709633	0.65557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	4.745730	0.76578	26.5	0.98731983150721969	0.45363	0.00042	0.00346	N	AEFBI	0.021623	0.00984	N	0.0797122148138157	0.45516	2.806909	-0.300301671662278	0.28090	1.563428	1.64775418838586E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	-0.059000	0.11688	-7.220000	0.01204	-1.049000	0.01645	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	31.43	42	chr15	23441505	.	G	A	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.111;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=1.69;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,4:29:43:0|1:23441505_G_A:43,0,946:23441505	9	0	1	0
chr15	23441526	23441526	G	0	exonic	GOLGA6L2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10397.6	49	chr15	23441526	.	G	*	10397.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=409;ExcessHet=0.7463;FS=4.863;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.59;ReadPosRankSum=-0.347;SOR=0.602	GT:AD:DP:GQ:PL	0/0:8,0:27:99:463,487,758	9	0	1	0
chr15	23441540	23441540	T	0	exonic	GOLGA6L2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	698.93	36	chr15	23441540	.	T	*	698.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=328;ExcessHet=0.0405;FS=0.772;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.28;ReadPosRankSum=0.204;SOR=0.56	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:25,0:30:80:0|1:23441505_G_A:80,150,1034:23441505	9	0	1	0
chr15	23646824	23646824	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C919T:p.P307S	Schaaf-Yang syndrome, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	429618	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0008	0	0	0	0	0.0020	0	0.0004	0.0002005	31	154602	rs555920534	0.0011	0.0010	0.0011	0.0010	0.0018	0.0010	0.0010	0.0012	0.0011	0.0002	0.0002	0.0009	0	0.0004	0.0018	0.0012	0.0010	0.0003	0.0006	0.0006	0.0008	0.0004	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0003	0.0003	0	9.407e-05	0.0034	0.0011	0	0.0006	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.36043	.	.	.	.	.	.	.	0.020911455	0.00490	T	.	.	.	.	.	.	.	0.189391138174	0.18552	0.27398347525440125	0.27311	.	.	0.569063305855	0.48545	T	0.135	0.46609	T	-0.261197	0.12760	T	-0.198408	0.54798	T	.	.	.	0.582642	0.21138	T	0.036905363	0.04628	0.10031832	0.23981	0.036905363	0.04628	0.10031832	0.23980	-5.874	0.45212	T	.	.	0.134	0.29032	B	.;.	.;.	2.170948	0.27664	17.54	0.90032395018100519	0.19320	0.10603	0.16063	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.99267087112918	0.32927	0.162408	0.03677	1	0.063388	0.01293	0	0.132232	0.03703	1	0.062806	0.01542	0	0.123528	0.25025	3.29	0.18	0.14352	0.945000	0.28654	3.550000	0.39044	-0.255000	0.07062	0.007000	0.17678	1.000000	0.68203	0.019000	0.11356	0.1066:0.3463:0.5471:0.0	6.632	0.22056	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002801	0.000000	0.000000	0.000000	0.000000	0.000000	0.007246	0.000000	0.05	2184.43	160	chr15	23646824	.	G	A	2184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.57;DP=487;ExcessHet=0;FS=5.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.83;SOR=0.396	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	9	0	1	0
chr15	25683369	25683369	C	T	exonic	ATP10A	.	nonsynonymous SNV	ATP10A:NM_024490:exon17:c.G3409A:p.V1137M	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.157484454338	.	.	6.617e-05	0	0	0	0	1.504e-05	0.0022	0.0003	6.47e-05	10	154602	rs746399632	4.446e-05	4.446e-05	2.995e-05	5.913e-05	0.0004	3.575e-05	3.257e-05	0.0003	0.0003	2.987e-05	0	0	0	0	0	2.428e-05	3.311e-05	0.0004	2.628e-05	2.625e-05	0	5.375e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.094	0.31383	T	0.126	0.35205	T	0.947	0.53479	P	0.277	0.40197	B	0.000020	0.62929	D	0.113555	0.972249	0.38931	D	2.18	0.61292	M	-2.46	0.88924	D	-1.7	0.40468	N	0.5	0.53269	-0.0890	0.80350	T	0.478	0.80037	T	10	0.24769068	0.42053	T	0.157484	0.83806	D	0.375	0.69358	0.555	0.67271	0.677874916926	0.67514	0.3913154017755766	0.39046	0.170557378409	0.19226	0.604530036449	0.53544	T	0.03518	0.23617	T	-0.170563	0.25148	T	-0.166623	0.57751	T	0.139910817146301	0.16268	T	0.90161	0.65783	D	0.11372434	0.26855	0.13047074	0.31348	0.11372434	0.26855	0.13047074	0.31347	-9.138	0.68581	D	.	.	0.286	0.51815	B	.	.	3.360874	0.46396	22.3	0.99865339757555305	0.94366	0.50034	0.28570	D	AEFBI	0.115653	0.22730	N	0.161523543608741	0.49359	3.137179	0.165776847945882	0.47984	3.020606	0.999992258471322	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.81	3.67	0.41236	1.269000	0.32677	4.634000	0.44128	0.599000	0.40250	0.797000	0.29682	1.000000	0.68203	0.617000	0.31819	0.0:0.6856:0.0:0.3144	5.653	0.16905	663	0.61610	P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2433.43	34	chr15	25683369	.	C	T	2433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=485;ExcessHet=0;FS=1.866;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=0.934;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	9	0	1	0
chr15	26773694	26773694	G	A	exonic	GABRB3	.	nonsynonymous SNV	GABRB3:NM_021912:exon1:c.C31T:p.P11S	Epileptic encephalopathy, early infantile, 43, Autosomal dominant	5	1504	12	1	0	14	0.00463269	.	.	.	31230	Developmental_and_epileptic_encephalopathy,_43|Epilepsy,_childhood_absence,_susceptibility_to,_5|Epilepsy,_childhood_absence,_susceptibility_to,_1|not_specified|not_provided|GABRB3-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0014921,MedGen:C4310712,OMIM:617113|MONDO:MONDO:0012843,MedGen:C2677087,OMIM:612269,Orphanet:64280|MONDO:MONDO:0020759,MedGen:C1838604,OMIM:600131,Orphanet:64280|MedGen:CN169374|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.438	.	0.0039	0.00199681	0.0058	0.0009	0.0065	0	0.0041	0.0117	0.0052	0.0012	0.0021539	333	154602	rs25409	0.0044	0.0044	0.0045	0.0044	0.0051	0.0044	0.0043	0.0050	0.0050	0.0011	0.0034	0.0047	0	0.0008	0.0035	0.0051	0.0048	0.0011	0.0035	0.0035	0.0037	0.0033	0.0055	0.0033	0.0032	0.0050	0.0048	0.0010	0	0.0050	0.0049	0.0002	0.0009	0	0.0055	0.0047	0.0008	0.703	0.04134	T	0.754	0.04737	T	0.137	0.27402	B	0.051	0.25434	B	.	.	.	.	1	0.21100	N	.	.	.	-1.26	0.79176	T	0.49	0.02993	N	0.192	0.21056	-0.9878	0.33151	T	0.130	0.43948	T	9	0.006672621	0.00151	T	.	.	.	0.438	0.74235	.	.	0.965383053836	0.96501	.	.	.	.	.	.	.	.	.	.	-0.228672	0.16824	T	-0.100569	0.63354	T	0.00286184766769854	0.00030	T	0.439356	0.12115	T	.	.	.	.	.	.	.	.	-2.777	0.07973	T	.	.	0.120	0.24800	B	.	.	2.042696	0.25964	16.95	0.94548676295998924	0.25062	0.19128	0.20539	N	AEFDBHCI	0.038635	0.05498	N	-0.894978605461365	0.10961	0.5264763	-0.837710087912879	0.13584	0.7054426	0.999998109071838	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.504199	0.09095	0	0.562822	0.20929	0	.	.	3.1	2.18	0.26813	1.084000	0.30439	3.201000	0.36751	0.608000	0.46601	0.022000	0.19841	1.000000	0.68203	0.967000	0.53440	0.1227:0.0:0.8773:0.0	8.450	0.32028	748	0.52143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004692	0.000000	0.001389	0.000000	0.000000	0.026316	0.012987	0.003846	0.05	284.43	33	chr15	26773694	.	G	A	284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.645;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.437;SOR=0.818	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,805	9	0	1	0
chr15	27983407	27983407	C	T	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_001300984:exon13:c.G1369A:p.A457T,OCA2:NM_000275:exon14:c.G1441A:p.A481T	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	YES	15993	not_specified|not_provided|Tyrosinase-positive_oculocutaneous_albinism|OCA2-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.720	.	0.0013	0.00798722	0.0078	9.61e-05	0.0016	0.0303	0.0473	0.0047	0.0176	0.0009	0.0067528	1044	154602	rs74653330	0.0047	0.0047	0.0048	0.0046	0.0527	0.0046	0.0046	0.0508	0.0501	0.0002	0.0027	0.0177	0.0527	0.0458	0.0021	0.0012	0.0051	0.0009	0.0067	0.0067	0.0044	0.0090	0.0342	0.0063	0.0062	0.0300	0.0285	0.0003	0	0.0027	0.0173	0.0342	0.0545	0	0.0019	0.0052	0.0012	0.192	0.20988	T	0.436	0.13634	T	0.946	0.53363	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999973	0.53665	A	2.755	0.80505	M	-1.67	0.82806	D	-2.12	0.48184	N	0.888	0.95608	-0.1744	0.78321	T	0.293	0.66508	T	9	0.014360964	0.00302	T	.	.	.	0.720	0.90101	.	.	0.918188717046	0.91736	0.9407718962271029	0.94058	0.4607494585	0.45631	0.729123711586	0.71378	T	0.574765	0.85979	D	-0.0541888	0.43808	T	0.211917	0.83764	D	0.0675672815574518	0.08305	T	0.990401	0.97014	D	0.2687473	0.49947	0.29853162	0.55887	0.28667596	0.51682	0.27513763	0.53447	-10.12	0.77077	D	0.5161700043131197	0.58914	0.208	0.52961	B	.;.	.;.	4.957557	0.81941	27.7	0.99912961034017145	0.98167	0.95027	0.63172	D	AEFDGBI	0.780824	0.71260	D	0.494835249542985	0.66786	4.99557	0.518449324302373	0.69234	5.331151	0.999999902065305	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	5.396000	0.66042	7.604000	0.61663	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.427	0.87420	958	0.09170	.;Citrate transporter-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.009146	0.003788	0.05	1251.43	33	chr15	27983407	.	C	T	1251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.958;DP=418;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.721;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1142	9	0	1	0
chr15	28018477	28018477	G	A	exonic	OCA2	.	nonsynonymous SNV	OCA2:NM_000275:exon7:c.C727T:p.R243C,OCA2:NM_001300984:exon7:c.C727T:p.R243C	Albinism, brown oculocutaneous, Autosomal recessive;Albinism, oculocutaneous, type II, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	YES	195572	Oculocutaneous_albinism|OCA2-related_disorder|Tyrosinase-positive_oculocutaneous_albinism|SKIN/HAIR/EYE_PIGMENTATION_1,_BLUE/NONBLUE_EYES|not_provided	MONDO:MONDO:0018910,MedGen:C0078918,OMIM:PS203100,Orphanet:55|.|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:C1856895,OMIM:227220|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	0.0173050794318	0.0003	0.000798722	0.0002	0.0001	0	0.0018	0	0.0001	0	0.0002	0.0002199	34	154602	rs138065338	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0007	5.975e-05	2.236e-05	0.0007	0.0010	0	0.0003	9.983e-05	0.0003	0.0005	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0	0.0003	0.0033	0	0	0.0002	0	0	0.056	0.38185	T	0.073	0.43159	T	0.989	0.62824	D	0.711	0.54536	P	0.114161	0.02667	N	1.825400	1	0.08975	N	2.075	0.57047	M	-0.13	0.64818	T	-2.15	0.72353	N	0.385	0.72656	-0.8932	0.48650	T	0.205	0.56348	T	10	0.01161772	0.00253	T	0.017305	0.38957	T	0.340	0.66202	.	.	0.765386357803	0.76324	0.49197367650237095	0.49118	0.297088945593	0.32091	0.33315590024	0.15410	T	0.35988	0.72621	T	-0.271774	0.11560	T	-0.166525	0.57760	T	0.0324763674663829	0.02384	T	0.843016	0.52334	T	0.07231753	0.16077	0.049056698	0.07418	0.07606457	0.17179	0.05845182	0.10804	-7.946	0.64944	D	0.1438428568785399	0.16385	0.147	0.32493	B	.;.;.	.;.;.	1.099568	0.14838	11.37	0.99015774081968766	0.50463	0.07462	0.13479	N	AEFDBHCI	0.162949	0.28918	N	-0.426422732119593	0.24547	1.326168	-0.587491222758173	0.19819	1.065051	0.0745892574368267	0.15670	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.98	1.98	0.25351	-0.077000	0.11356	0.579000	0.19686	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0896:0.5005:0.4099:0.0	8.655	0.33219	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1514.43	34	chr15	28018477	.	G	A	1514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.384;DP=424;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.308;SOR=0.575	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1149	9	0	1	0
chr15	28257189	28257189	T	C	exonic	HERC2	.	nonsynonymous SNV	HERC2:NM_004667:exon17:c.A2389G:p.M797V	Mental retardation, autosomal recessive 38, Autosomal recessive	414	1067	39	2	0	43	0.019752	.	.	.	215493	HERC2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0022	0.00199681	0.0026	0.0018	0.0014	0	0	0.0026	0.0122	0.0057	0.0023738	367	154602	rs150930758	0.0018	0.0018	0.0015	0.0020	0.0318	0.0017	0.0017	0.0280	0.0266	0.0027	0.0026	0.0197	0	1.872e-05	0.0318	0.0008	0.0041	0.0060	0.0022	0.0022	0.0022	0.0022	0.0063	0.0020	0.0019	0.0053	0.0049	0.0017	0	0.0063	0.0185	0	0	0.0136	0.0011	0.0043	0.0044	0.271	0.15984	T	.	.	.	0.007	0.14184	B	0.005	0.11217	B	0.000243	0.46924	N	0.235442	0.714068	0.29986	N	1.265	0.31966	L	1.22	0.37052	T	-0.79	0.21860	N	0.174	0.18649	-1.0669	0.10108	T	0.039	0.16806	T	10	0.009844363	0.00221	T	.	.	.	0.041	0.10877	.	.	0.161926535498	0.15789	0.4378179955636888	0.43698	0.744429683914	0.63434	0.363349378109	0.19873	T	0.080154	0.36297	T	-0.521538	0.00431	T	-0.519456	0.20350	T	0.000318426846013935	0.00003	T	0.666933	0.27600	T	0.050658528	0.09184	0.06506797	0.13133	0.050658528	0.09184	0.06506797	0.13133	-1.262	0.01342	T	0.09886509047827896	0.07116	0.059	0.00730	B	.	.	0.446432	0.08165	4.899	0.68021992218274507	0.08531	0.75345	0.36886	D	AEFDBI	0.095707	0.19332	N	-0.716014050531727	0.15571	0.7859163	-0.621457361082256	0.18943	1.014164	0.0122129500113072	0.12295	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	0.315	0.15097	1.153000	0.31287	-0.412000	0.09340	-1.403000	0.01139	0.820000	0.29989	0.000000	0.08366	0.027000	0.12703	0.1156:0.1966:0.0:0.6878	5.617	0.16720	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027615	0.006944	0.027397	0.071429	0.000000	0.026316	0.018657	0.012397	0.1	2398.14	41	chr15	28257189	.	T	C	2398.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.59;DP=491;ExcessHet=0.2348;FS=1.877;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-0.72;SOR=0.552	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,976	8	0	2	0
chr15	28384419	28384419	G	A	exonic	GOLGA8F;GOLGA8G	.	stopgain	GOLGA8G:NM_001368078:exon9:c.G140A:p.W47X,GOLGA8G:NM_001368080:exon9:c.G140A:p.W47X,GOLGA8G:NM_001350919:exon10:c.G794A:p.W265X,GOLGA8F:NM_001350920:exon10:c.G758A:p.W253X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.195e-05	4.667e-06	2.659e-05	0	4.702e-05	1.99e-06	7.4e-07	7.79e-06	2.92e-06	0	0	0	0	0	0	4.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.483052	0.93807	D	0.456094	0.93729	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	6.102117	0.94564	34	0.982066805175278	0.39175	0.76357	0.37442	D	AEFI	0.025613	0.01785	N	.	.	.	.	.	.	3.27029727892107E-5	0.03775	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.647	0.647	0.16968	6.013000	0.70431	8.388000	0.77079	0.222000	0.18087	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	1.0E-4:0.0:0.9999:0.0	7.119	0.24609	423	0.81269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	629.94	22	chr15	28384419	.	G	A	629.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.16;DP=110;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=36.54;MQRankSum=-0.555;QD=33.15;ReadPosRankSum=-1.553;SOR=4.514	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,287	5	1	0	4
chr15	28702048	28702048	G	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon19:c.C1805T:p.P602L	.	421	1091	10	0	0	10	0.00456204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0205671	0.0072	0	0.1098	0.0286	0	0.0029	0.0192	0.0028	0.0062625	163	26028	rs199977584	0.0038	0.0037	0.0042	0.0033	0.0759	0.0037	0.0036	0.0737	0.0729	0.0024	0.0759	0.0042	0.0287	0.0001	0.0029	0.0003	0.0050	0.0013	0.0070	0.0071	0.0066	0.0074	0.0509	0.0066	0.0065	0.0479	0.0467	0.0020	0	0.0509	0.0043	0.0243	9.498e-05	0	0.0003	0.0144	0.0017	0.022	0.48642	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-6.16	0.90215	D	0.142	0.14196	.	.	.	.	.	.	.	0.0023910105	0.00035	T	.	.	.	.	.	.	.	.	.	0.09922984663501881	0.09853	1.27784336031	0.82451	.	.	.	0.072009	0.34349	T	-0.630248	0.00095	T	-0.625434	0.10763	T	.	.	.	0.865613	0.56501	D	0.16319054	0.36444	0.24243988	0.49664	0.16319054	0.36444	0.24243988	0.49663	-4.194	0.26665	T	.	.	0.156	0.34449	B	.	.	1.119733	0.15051	11.55	0.97242345669516506	0.33001	0.07330	0.13351	N	AEFI	0.036780	0.04956	N	.	.	.	.	.	.	1.27449074415292E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.798	-0.742	0.10548	1.222000	0.32119	2.775000	0.34697	0.222000	0.18087	0.975000	0.34726	0.732000	0.26423	0.001000	0.02609	0.0:0.0:0.4424:0.5576	3.524	0.07311	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	703.43	33	chr15	28702048	.	G	A	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.987;DP=381;ExcessHet=0;FS=0.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.1;MQRankSum=-1.519;QD=11.72;ReadPosRankSum=-0.452;SOR=0.484	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	9	0	1	0
chr15	28703888	28703888	G	T	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon14:c.C1230A:p.N410K	.	413	1107	2	0	0	2	0.000902527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00132135544038	.	0.000998403	0.0003	0.0023	0	0	0	0.0002	0	0.0002	0.0002689	7	26028	rs371133877	0.0002	0.0004	0.0002	0.0002	0.0029	0.0001	0.0001	0.0024	0.0022	0.0029	0.0010	0	0.0004	0	0	5.778e-05	0.0003	8.233e-05	0.0018	0.0034	0.0020	0.0017	0.0061	0.0016	0.0016	0.0055	0.0053	0.0061	0	0.0008	0	0	0	0	0.0001	0.0019	0.0004	0.937	0.02212	T	0.423	0.13993	T	.	.	.	.	.	.	.	.	.	.	0.999966	0.18878	N	.	.	.	1.34	0.34841	T	-2.57	0.55501	D	0.239	0.26957	.	.	.	.	.	.	.	0.014233321	0.00300	T	0.001321	0.01860	T	.	.	.	.	0.19168177325	0.18762	0.4952960074218164	0.49450	0.560806340437	0.52599	.	.	.	0.013017	0.11335	T	-0.311209	0.07643	T	-0.684807	0.06695	T	.	.	.	0.665033	0.27384	T	0.12942488	0.30229	0.1278082	0.30759	0.12942488	0.30229	0.1278082	0.30759	-5.211	0.39054	T	.	.	0.153	0.33868	B	.	.	1.324601	0.17293	13.08	0.37083242066918581	0.02422	0.24686	0.22470	N	AEFCI	0.090307	0.18300	N	.	.	.	.	.	.	1.13572059652099E-6	0.01202	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.567892	0.33627	0	.	.	0.798	-0.22	0.12483	1.040000	0.29888	0.805000	0.21696	-0.925000	0.02178	0.845000	0.30364	0.999000	0.35428	0.005000	0.06747	0.2756:0.0:0.7244:0.0	4.213	0.09979	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	72.43	32	chr15	28703888	.	G	T	72.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.28;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.33;MQRankSum=-2.606;QD=1.54;ReadPosRankSum=2.74;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,961:.	9	0	1	0
chr15	28703913	28703913	T	C	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon14:c.A1205G:p.H402R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000132706877648	.	0.000399361	0.0005	0.0010	0	0	0	0.0004	0	0.0006	0.0001035	16	154602	rs558926045	0.0003	0.0004	0.0003	0.0003	0.0006	0.0003	0.0003	0.0004	0.0003	0	0.0006	0	0.0001	0.0004	0	0.0004	0.0002	9.434e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	8.907e-05	0.0002	0.0002	2.489e-05	0	6.849e-05	0	0	0.0002	0	0.0003	0	0	0.57	0.06184	T	0.481	0.11864	T	.	.	.	.	.	.	.	.	.	.	0.999985	0.18198	N	.	.	.	2.24	0.17923	T	-1.84	0.43149	N	0.048	0.01999	.	.	.	.	.	.	.	0.014046043	0.00296	T	1.33E-4	0.00000	T	.	.	.	.	0.147330786459	0.14319	0.07797567335745229	0.07733	0.587679702723	0.54339	.	.	.	0.004825	0.04238	T	-0.544853	0.00313	T	-0.746121	0.03639	T	.	.	.	0.0241976	0.00146	T	0.042004336	0.06291	0.049024675	0.07404	0.042004336	0.06291	0.049024675	0.07403	-0.757	0.00767	T	.	.	0.068	0.02670	B	.	.	-0.573042	0.01647	0.115	0.46920825000869459	0.03796	0.03602	0.08830	N	AEFCI	0.036267	0.04805	N	.	.	.	.	.	.	1.11995154676138E-6	0.01202	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	0.798	-0.373	0.11893	-1.119000	0.03388	-2.185000	0.04088	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.6299:0.0:0.3701	3.099	0.05940	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	63.43	36	chr15	28703913	.	T	C	63.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.546;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.55;MQRankSum=-2.698;QD=1.27;ReadPosRankSum=-0.647;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,961:.	9	0	1	0
chr15	28706116	28706116	C	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon11:c.G874T:p.A292S	.	531	987	4	0	0	4	0.00202224	0.9999	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00580194803917	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1464642995	0.0014	0.0009	0.0015	0.0014	0.0159	0.0014	0.0013	0.0148	0.0143	7.411e-05	5.053e-05	0	0.0159	3.278e-05	0.0005	0.0003	0.0028	0.0002	0.0007	0.0008	0.0006	0.0009	0.0171	0.0006	0.0006	0.0140	0.0129	7.314e-05	0	0.0003	0	0.0171	0	0	0.0002	0.0035	0.0002	0.029	0.45756	D	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	-2.6	0.89888	D	-2.0	0.46146	N	0.055	0.02658	-1.0102	0.26854	T	0.100	0.37213	T	6	0.0059670806	0.00134	T	0.005802	0.15072	T	.	.	.	.	0.110392049598	0.10638	0.22245081833408326	0.22160	2.52078213034	0.97734	.	.	.	0.050456	0.28601	T	-0.307715	0.07951	T	-0.379464	0.35787	T	0.102356778292837	0.12614	T	0.741226	0.36032	T	0.08473018	0.19623	0.087137155	0.20234	0.08473018	0.19623	0.087137155	0.20234	-5.777	0.44373	T	.	.	0.135	0.29255	B	.	.	3.403269	0.47175	22.4	0.98185820377582489	0.38984	0.44950	0.27431	N	AEFI	0.112328	0.22207	N	-0.0246702337209107	0.40739	2.424657	-0.326665104410343	0.27240	1.510171	4.95178924050169E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.798	0.798	0.17803	0.097000	0.15007	3.906000	0.40380	0.151000	0.17695	0.000000	0.06391	0.999000	0.35428	0.071000	0.16709	0.0:1.0:0.0:0.0	4.952	0.13370	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	351.43	33	chr15	28706116	.	C	A	351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.614;DP=253;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=23.79;MQRankSum=0.632;QD=9.5;ReadPosRankSum=-0.625;SOR=0.704	GT:AD:DP:GQ:PL	0/0:23,0:23:66:0,66,990	9	0	1	0
chr15	28842754	28842754	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G1350A:p.M450I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288774704	0	1.438e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.893e-06	0.0002	0	1.414e-05	1.51e-05	0	0	.	.	0	0	0	0	0	0	0	1.51e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073978126	0.11250	T	.	.	.	.	.	.	.	.	.	0.025714335919542787	0.02522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49935	0.15589	T	0.26085496	0.49143	0.41460165	0.65598	0.26085496	0.49142	0.41460165	0.65599	-6.041	0.46621	T	.	.	0.320	0.54499	B	.	.	0.346122	0.07195	3.785	0.46182978349490345	0.03680	0.00699	0.02973	N	AEFCI	.	.	.	.	.	.	.	.	.	2.02772666150393E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-1.139000	0.03324	-6.627000	0.01347	0.307000	0.19059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	37.93	4	chr15	28842754	.	C	T	37.93	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.253;DP=50;ExcessHet=0;FS=0;InbreedingCoeff=-0.0897;MLEAC=1;MLEAF=0.05;MQ=54.19;MQRankSum=-1.645;QD=7.59;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:6,0:6:18:.:.:0,18,148:.	9	0	1	0
chr15	28842774	28842774	G	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.C1330T:p.R444W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1332133628	1.495e-05	4.521e-05	7.121e-06	2.36e-05	4.882e-05	8.85e-06	7.16e-06	7.93e-06	6.11e-06	0	0	0	3.926e-05	0	0	1.421e-05	2.36e-05	4.882e-05	0.0002	0.0005	0.0002	0.0001	0.0010	9.513e-05	7.452e-05	0.0002	7.505e-05	0.0002	0	0.0002	0	0	0.0005	0	0.0001	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05602908	0.06217	T	.	.	.	.	.	.	.	.	.	0.04232661021332076	0.04177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.630337	0.24523	T	0.25865686	0.48916	0.18417773	0.41454	0.25865686	0.48916	0.18417773	0.41453	-6.057	0.46753	T	.	.	0.126	0.26762	B	.	.	0.617512	0.09862	6.621	0.57542920807751563	0.05792	0.00376	0.01908	N	AEFDCI	.	.	.	.	.	.	.	.	.	3.85059366971751E-5	0.03775	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046323	0.05263	0.432	-0.864	0.10126	-4.195000	0.00314	-11.787000	0.00575	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	39.85	4	chr15	28842774	.	G	A	39.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.253;DP=48;ExcessHet=0;FS=0;InbreedingCoeff=0.0504;MLEAC=1;MLEAF=0.071;MQ=54.19;MQRankSum=-1.645;QD=7.97;ReadPosRankSum=1.65;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:7,0:7:15:.:.:0,15,225:.	6	0	1	3
chr15	28843134	28843134	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G970A:p.E324K	.	524	965	30	3	0	36	0.0183113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs1204083828	0.0003	0.0018	0.0002	0.0003	0.0013	0.0002	0.0002	0.0009	0.0008	0.0003	0.0010	0.0004	0.0013	0.0001	0.0003	0.0002	0.0004	0.0009	0.0009	0.0085	0.0007	0.0011	0.0017	0.0008	0.0007	0.0013	0.0012	0.0017	0	0.0012	0.0006	0.0011	0.0009	0	0.0005	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054320782	0.05765	T	.	.	.	.	.	.	.	.	.	0.0796059710434255	0.07895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552145	0.19060	T	0.026396565	0.01691	0.06522381	0.13188	0.026396565	0.01691	0.06522381	0.13188	-7.191	0.55416	T	.	.	0.093	0.13969	B	.	.	0.927256	0.13022	9.528	0.40818859624842702	0.02905	0.00385	0.01942	N	AEFCI	.	.	.	.	.	.	.	.	.	2.69831305298825E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-2.618000	0.00953	-2.469000	0.03716	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:0.3485:0.6514:0.0	5.585	0.16554	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	125.49	6	chr15	28843134	.	C	T	125.49	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.967;DP=83;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1478;MLEAC=2;MLEAF=0.111;MQ=52.36;MQRankSum=-0.967;QD=9.65;ReadPosRankSum=0.967;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,247:.	7	0	2	1
chr15	28843135	28843135	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G969T:p.Q323H	.	518	971	30	3	0	36	0.0182002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1233704262	0.0003	0.0018	0.0002	0.0004	0.0013	0.0003	0.0002	0.0009	0.0008	0.0004	0.0010	0.0005	0.0013	0.0002	0.0003	0.0002	0.0005	0.0008	0.0008	0.0084	0.0006	0.0010	0.0014	0.0007	0.0006	0.0011	0.0010	0.0014	0	0.0011	0.0003	0.0010	0.0009	0	0.0004	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09346208	0.16541	T	.	.	.	.	.	.	.	.	.	0.04198620401242224	0.04143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467153	0.13745	T	0.03609981	0.04375	0.057831366	0.10583	0.03609981	0.04374	0.057831366	0.10582	-9.024	0.67852	D	.	.	0.328	0.55089	B	.	.	1.202482	0.15947	12.21	0.53190382402369574	0.04891	0.05610	0.11516	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	0.047000	0.13941	0.456000	0.18569	0.356000	0.20028	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	124.83	8	chr15	28843135	.	C	A	124.83	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.967;DP=86;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1345;MLEAC=2;MLEAF=0.1;MQ=52.36;MQRankSum=-0.967;QD=9.6;ReadPosRankSum=0.967;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,247:.	8	0	2	0
chr15	28843142	28843142	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G962T:p.R321L	.	544	955	21	2	0	25	0.0129199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191857706	0.0001	0.0011	0.0001	0.0001	0.0010	9.584e-05	8.968e-05	0.0004	0.0003	0.0005	0.0005	0.0004	0.0005	7.934e-05	0.0010	6.784e-05	9.229e-05	0.0006	0.0007	0.0077	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0007	0.0011	0	0.0012	0.0003	0.0006	0.0009	0	0.0004	0.0005	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076286405	0.11898	T	.	.	.	.	.	.	.	.	.	0.030957340557654735	0.03044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.668433	0.27736	T	0.075750865	0.17086	0.09239469	0.21771	0.075750865	0.17086	0.09239469	0.21771	-8.631	0.65293	D	.	.	0.105	0.19276	B	.	.	0.254151	0.06330	2.792	0.30357631313706235	0.01656	0.00529	0.02453	N	AEFCI	.	.	.	.	.	.	.	.	.	2.82397054557777E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.905000	0.04184	-6.198000	0.01467	-0.833000	0.02857	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3272:0.3435:0.3293:0.0	2.202	0.03687	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	122.42	9	chr15	28843142	.	C	A	122.42	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.383;DP=89;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.145;MLEAC=2;MLEAF=0.111;MQ=52.94;MQRankSum=-1.013;QD=8.74;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,247:.	7	0	2	1
chr15	28843145	28843145	A	G	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.T959C:p.M320T	.	552	948	20	2	0	24	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394968721	9.032e-05	0.0009	8.61e-05	9.487e-05	0.0005	7.569e-05	6.959e-05	0.0003	0.0003	0.0002	0.0004	0.0003	0.0004	3.904e-05	0.0003	5.774e-05	6.833e-05	0.0005	0.0006	0.0071	0.0004	0.0007	0.0009	0.0005	0.0004	0.0006	0.0005	0.0009	0	0.0009	0.0003	0.0006	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06346178	0.08270	T	.	.	.	.	.	.	.	.	.	0.027028037523204537	0.02652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80032	0.44603	T	0.06259258	0.13090	0.20706734	0.44950	0.06259258	0.13089	0.20706734	0.44949	-8.92	0.67181	D	.	.	0.373	0.57993	A	.	.	1.332190	0.17377	13.13	0.13608050232526028	0.00274	0.00806	0.03275	N	AEFCI	.	.	.	.	.	.	.	.	.	2.99479300498238E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.140000	0.00647	-2.879000	0.03269	-0.682000	0.04210	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3434:0.327:0.0:0.3296	1.454	0.02237	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	122.16	10	chr15	28843145	.	A	G	122.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=91;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1408;MLEAC=2;MLEAF=0.1;MQ=52.94;MQRankSum=-1.013;QD=8.73;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,247:.	8	0	2	0
chr15	28843152	28843152	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G952A:p.E318K	.	596	905	19	2	0	23	0.0125477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175861085	8.072e-05	0.0008	7.323e-05	8.88e-05	0.0005	6.676e-05	6.15e-05	0.0003	0.0002	0.0005	0.0004	0.0002	0.0005	3.946e-05	0	4.87e-05	2.315e-05	0.0004	0.0005	0.0063	0.0004	0.0005	0.0008	0.0004	0.0004	0.0005	0.0005	0.0008	0	0.0008	0	0.0004	0.0006	0	0.0003	0.0005	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084602505	0.14197	T	.	.	.	.	.	.	.	.	.	0.03870546161705601	0.03816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.807219	0.45710	T	0.022809826	0.00971	0.063979626	0.12754	0.022809826	0.00970	0.063979626	0.12754	-7.409	0.56968	T	.	.	0.076	0.05756	B	.	.	0.240593	0.06208	2.659	0.69185045974801285	0.08892	0.00371	0.01888	N	AEFCI	.	.	.	.	.	.	.	.	.	1.10080633485978E-4	0.05123	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-0.998000	0.03812	-7.625000	0.01118	-2.765000	0.00194	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2626:0.7373:0.0	7.994	0.29417	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	121.31	10	chr15	28843152	.	C	T	121.31	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=91;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1187;MLEAC=2;MLEAF=0.1;MQ=52.94;MQRankSum=-1.013;QD=8.67;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:18:.:.:0,18,270:.	8	0	2	0
chr15	28843155	28843155	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G949A:p.E317K	.	579	922	19	2	0	23	0.0123192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394768048	6.115e-05	0.0006	5.529e-05	6.746e-05	0.0004	4.9e-05	4.459e-05	0.0002	0.0002	0.0002	0.0003	0.0001	0.0004	3.914e-05	0	3.656e-05	2.32e-05	0.0004	0.0004	0.0056	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0004	0.0006	0	0.0007	0	0.0004	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0684565	0.09684	T	.	.	.	.	.	.	.	.	.	0.08560220995357702	0.08494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810419	0.46176	T	0.02553128	0.01501	0.06522381	0.13188	0.02553128	0.01501	0.06522381	0.13188	-6.82	0.52708	T	.	.	0.104	0.18910	B	.	.	1.353607	0.17613	13.27	0.35185701157618721	0.02194	0.00170	0.01006	N	AEFCI	.	.	.	.	.	.	.	.	.	2.25599673312757E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	-0.864	0.10126	-3.903000	0.00381	-5.980000	0.01533	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6504:0.3496:1.0E-4	5.503	0.16129	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.27	10	chr15	28843155	.	C	T	118.27	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=92;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1171;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.139;QD=7.88;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:21:.:.:0,21,315:.	8	0	2	0
chr15	28843163	28843163	C	A	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G941T:p.R314L	.	591	916	13	2	0	17	0.00919416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1327731859	3.966e-05	0.0004	3.146e-05	4.845e-05	0.0002	2.969e-05	2.606e-05	0.0001	7.171e-05	0	0.0002	0	0.0002	3.955e-05	0	2.931e-05	0	0.0002	0.0004	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0	0.0005	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10313755	0.18943	T	.	.	.	.	.	.	.	.	.	0.02523710072021684	0.02474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585041	0.21304	T	0.082116276	0.18901	0.11121759	0.26827	0.082116276	0.18901	0.11121759	0.26826	-7.835	0.59940	D	.	.	0.121	0.25265	B	.	.	0.795957	0.11666	8.248	0.52257582194253571	0.04714	0.01916	0.05858	N	AEFCI	.	.	.	.	.	.	.	.	.	1.98083583576756E-6	0.01202	0.078448	0.01964	0	0.063388	0.01293	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-0.605000	0.05757	-6.332000	0.01428	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.16	12	chr15	28843163	.	C	A	118.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.383;DP=94;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1122;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.139;QD=7.88;ReadPosRankSum=0;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:8,0:8:24:.:.:0,24,245:.	8	0	2	0
chr15	28843173	28843173	C	T	exonic	GOLGA6L7	.	nonsynonymous SNV	GOLGA6L7:NM_001365371:exon9:c.G931A:p.E311K	.	623	889	10	0	0	10	0.00559284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1323313614	5.055e-05	0.0003	2.771e-05	7.401e-05	0.0004	3.699e-05	3.282e-05	0.0002	0.0001	0	0.0004	0	0.0002	0	0	2.832e-05	3.097e-05	0.0004	0.0003	0.0025	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0004	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07834345	0.12474	T	.	.	.	.	.	.	.	.	.	0.030977101992109582	0.03046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.728627	0.34357	T	0.024559313	0.01299	0.06746355	0.13960	0.024559313	0.01299	0.06746355	0.13960	-7.453	0.57279	T	.	.	0.085	0.10256	B	.	.	0.758504	0.11281	7.908	0.45310543330938985	0.03547	0.00741	0.03094	N	AEFCI	.	.	.	.	.	.	.	.	.	1.60012443190448E-5	0.02871	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	0.0448725	0.03863	0.432	0.432	0.15742	-2.407000	0.01121	-8.590000	0.00945	-0.534000	0.04951	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.751	0.22677	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.18	12	chr15	28843173	.	C	T	118.18	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.501;DP=97;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1131;MLEAC=2;MLEAF=0.1;MQ=53.44;MQRankSum=-1.013;QD=7.88;ReadPosRankSum=0.674;SOR=0.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:9,0:9:18:.:.:0,18,270:.	8	0	2	0
chr15	29054732	29054732	C	T	exonic	APBA2	.	nonsynonymous SNV	APBA2:NM_001130414:exon3:c.C848T:p.S283L,APBA2:NM_001353791:exon3:c.C848T:p.S283L,APBA2:NM_001353793:exon3:c.C848T:p.S283L,APBA2:NM_001353794:exon3:c.C848T:p.S283L,APBA2:NM_005503:exon3:c.C848T:p.S283L,APBA2:NM_001353788:exon4:c.C848T:p.S283L,APBA2:NM_001353789:exon4:c.C848T:p.S283L,APBA2:NM_001353790:exon4:c.C848T:p.S283L,APBA2:NM_001353792:exon4:c.C848T:p.S283L,APBA2:NM_001353795:exon4:c.C848T:p.S283L,APBA2:NM_001379685:exon5:c.C848T:p.S283L	.	398	1122	2	0	0	2	0.000890472	.	.	.	3462402	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0938796942508	.	.	4.31e-05	0	8.898e-05	0.0002	0	1.57e-05	0	6.179e-05	3.23e-05	5	154602	rs199985120	1.712e-05	1.779e-05	2.045e-05	1.377e-05	0.0003	1.175e-05	9.93e-06	0.0001	0.0001	0	0	0	0.0003	1.93e-05	0	5.396e-06	9.94e-05	2.319e-05	5.252e-05	5.249e-05	2.569e-05	8.056e-05	0.0008	2.555e-05	1.829e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0004	0.001	0.78490	D	0.29	0.21011	T	1.0	0.90584	D	0.943	0.67921	D	0.000001	0.62929	D	0.000000	1	0.81001	D	2.255	0.64187	M	0.19	0.60236	T	-1.13	0.29114	N	0.722	0.92200	-0.3161	0.74531	T	0.378	0.73527	T	10	0.50790906	0.61926	D	0.09388	0.76152	D	0.222	0.51872	.	.	0.825040050735	0.82338	0.43017336382827925	0.42934	0.456294190807	0.45285	0.610453784466	0.54380	T	0.287754	0.66054	T	-0.0163387	0.49373	T	0.039078	0.72867	D	0.275478005409241	0.23981	T	0.963754	0.86559	D	0.3532879	0.57321	0.288726	0.54890	0.3532879	0.57322	0.288726	0.54889	-4.527	0.31240	T	.	.	0.116	0.33550	B	.;.;.;.;.	.;.;.;.;.	3.416041	0.47413	22.5	0.99925839538126981	0.99042	0.98346	0.81852	D	AEFBI	0.704090	0.65992	D	0.680841790562385	0.78376	6.859339	0.641758512173163	0.77998	6.788593	0.999999989366445	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.96	4.96	0.65153	5.544000	0.66938	3.241000	0.36966	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.570000	0.30651	0.0:1.0:0.0:0.0	17.228	0.86858	970	0.06235	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2034.43	33	chr15	29054732	.	C	T	2034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=465;ExcessHet=0;FS=4.963;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.273;SOR=1.027	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr15	29124687	29124687	C	G	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon10:c.G1303C:p.A435P	.	426	1057	37	2	0	41	0.0190255	1.0000	0.972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	0.00239617	0.0068	0.0022	0.0071	0	0	0.0123	0.0266	0.0029	0.0021604	334	154602	rs61736885	0.0090	0.0086	0.0091	0.0089	0.0400	0.0089	0.0088	0.0358	0.0341	0.0024	0.0050	0.0168	8.395e-05	0.0009	0.0400	0.0101	0.0092	0.0025	0.0066	0.0066	0.0068	0.0064	0.0096	0.0063	0.0062	0.0089	0.0087	0.0024	0.0011	0.0096	0.0176	0	0.0007	0.0374	0.0095	0.0085	0.0039	0.293	0.14843	T	0.418	0.14200	T	0.929	0.51690	P	0.519	0.48163	P	0.406465	0.04566	N	1.383280	0.993407	0.23718	N	0.895	0.22405	L	4.1	0.02944	T	-0.43	0.14390	N	0.112	0.09914	-0.9404	0.42552	T	0.008	0.02926	T	9	0.005343735	0.00117	T	.	.	.	0.070	0.20419	.	.	0.112648838833	0.10856	0.12152855287662725	0.12079	.	.	0.328835964203	0.14758	T	0.00334	0.02748	T	-0.606268	0.00133	T	-0.634243	0.10094	T	0.00694505413504118	0.00079	T	0.29847	0.05558	T	0.1109204	0.26215	0.1353888	0.32417	0.1109204	0.26215	0.1353888	0.32416	-3.344	0.14311	T	.	.	0.070	0.03515	B	.	.	2.485933	0.32067	18.93	0.98772934176810789	0.46002	0.52931	0.29249	D	AEFDBCIJ	0.438409	0.49781	N	-0.269605845737956	0.30328	1.690033	-0.377055002329031	0.25682	1.413872	0.999585297186929	0.40607	0.700653	0.57754	0	0.588015	0.36545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.56	2.65	0.30588	0.667000	0.24794	0.835000	0.21986	0.537000	0.25018	0.437000	0.26463	0.720000	0.26347	0.032000	0.13371	0.1796:0.7254:0.0:0.095	6.469	0.21197	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026829	0.015957	0.046154	0.022523	0.083333	0.000000	0.022989	0.013158	0.05	870.43	105	chr15	29124687	.	C	G	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.261;DP=424;ExcessHet=0;FS=3.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.255;SOR=0.374	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1113	9	0	1	0
chr15	29716723	29716723	G	C	exonic	TJP1	.	nonsynonymous SNV	TJP1:NM_001355015:exon22:c.C3850G:p.R1284G,TJP1:NM_175610:exon22:c.C3850G:p.R1284G,TJP1:NM_001301026:exon23:c.C3862G:p.R1288G,TJP1:NM_001330239:exon23:c.C4090G:p.R1364G,TJP1:NM_001355013:exon23:c.C4102G:p.R1368G,TJP1:NM_001355014:exon23:c.C4090G:p.R1364G,TJP1:NM_003257:exon23:c.C4090G:p.R1364G,TJP1:NM_001301025:exon24:c.C4369G:p.R1457G,TJP1:NM_001355012:exon24:c.C4369G:p.R1457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0826416661599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.013	0.63109	D	0.997	0.90584	D	0.946	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.59	0.40313	L	0.01	0.62459	T	-2.31	0.55662	N	0.776	0.89577	-0.1844	0.78069	T	0.418	0.76401	T	10	0.71460915	0.73264	D	0.082642	0.73944	D	0.254	0.56428	0.319	0.29741	0.289027227714	0.28505	0.4683811127177624	0.46757	0.44186153919	0.44170	0.592445909977	0.51839	T	0.29711	0.66972	T	0.292489	0.82360	D	0.182364	0.82133	D	0.92793083190918	0.59109	D	0.90061	0.84537	D	0.41680294	0.61879	0.47058052	0.69300	0.41680294	0.61879	0.47058052	0.69301	-7.079	0.56536	T	.	.	0.763	0.88816	P	.;.;.;.;.	.;.;.;.;.	3.710628	0.52968	23.3	0.99919080554750483	0.98586	0.99503	0.96817	D	AEFBI	0.871577	0.79305	D	0.783905125693724	0.85088	8.473256	0.775465812209368	0.88042	9.435727	0.999999930184291	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.97	5.03	0.67015	5.274000	0.65380	4.442000	0.43389	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8698:0.1302	16.660	0.85097	974	0.05496	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	605.43	39	chr15	29716723	.	G	C	605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.64;DP=407;ExcessHet=0;FS=5.411;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.569;SOR=1.329	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr15	30140852	30140852	G	A	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon9:c.G602A:p.R201H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579365462498	.	.	0.0005	0	0	0.0008	0	0.0007	0	0	3.84e-05	1	26028	rs756210043	0.0001	0.0001	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	2.271e-05	0.0017	2.56e-05	3.815e-05	0	9.325e-05	0.0001	2.392e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0.0018	0	0	0	8.953e-05	0	0	0.572	0.06145	T	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.89	0.23688	T	-1.09	0.28290	N	0.098	0.07949	.	.	.	.	.	.	.	0.010477096	0.00233	T	0.005794	0.15042	T	.	.	.	.	0.0675242888579	0.06100	0.1912765564415625	0.19045	2.07987304828	0.94580	.	.	.	.	.	.	-0.6052	0.00135	T	-0.717518	0.04916	T	.	.	.	.	.	.	0.016632618	0.00211	0.030257832	0.01460	0.016632618	0.00211	0.030257832	0.01459	-3.654	0.18641	T	.	.	0.075	0.05447	B	.	.	-0.208284	0.03048	0.471	0.61405396698384684	0.06701	0.00046	0.00367	N	AEFI	0.020039	0.00752	N	.	.	.	.	.	.	2.12820365044115E-5	0.03498	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.2	-2.39	0.06223	-0.272000	0.08591	-3.048000	0.03108	-3.269000	0.00101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2015:0.2451:0.3068:0.2466	0.380	0.00366	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1288.43	34	chr15	30140852	.	G	A	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=439;ExcessHet=0;FS=4.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.91;MQRankSum=-1.001;QD=10.56;ReadPosRankSum=0.113;SOR=1.19	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr15	30608747	30608747	G	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.G582C:p.K194N,GOLGA8T:NM_001355469:exon8:c.G582C:p.K194N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00498358048796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0019	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0006	2.753e-05	0.0002	0.0001	0	0.0005	0.0009	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.18	0.29442	T	.	.	.	.	.	.	.	.	.	.	0.993723	0.23659	N	2.48	0.72069	M	1.9	0.23486	T	-1.96	0.45404	N	0.121	0.11197	.	.	.	.	.	.	.	0.13650501	0.25972	T	0.004984	0.12566	T	.	.	.	.	0.207176502487	0.20327	0.05885526678583752	0.05826	0.0158059045702	0.01510	.	.	.	0.009285	0.08464	T	-0.296489	0.08995	T	-0.663663	0.08021	T	.	.	.	0.60444	0.22695	T	0.12715618	0.29764	0.0855234	0.19753	0.12715618	0.29764	0.0855234	0.19752	-4.597	0.32134	T	.	.	0.218	0.44758	B	.	.	0.790856	0.11611	8.201	0.9625796049736377	0.29205	0.07789	0.13786	N	AEFI	0.085690	0.17372	N	.	.	.	.	.	.	2.14335074800116E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.042000	0.12016	0.273000	0.16680	0.000000	0.17513	0.681000	0.28448	0.051000	0.21832	0.010000	0.09038	6.0E-4:0.0:0.9994:0.0	5.935	0.18398	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	30.44	93	chr15	30608747	.	G	C	30.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.983;DP=632;ExcessHet=0;FS=63.151;InbreedingCoeff=-0.0533;MLEAC=1;MLEAF=0.05;MQ=47.07;MQRankSum=-1.848;QD=0.27;ReadPosRankSum=1.64;SOR=6.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1162	9	0	1	0
chr15	30614278	30614278	T	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon18:c.T1700C:p.L567P,GOLGA8T:NM_001355469:exon18:c.T1700C:p.L567P	.	166	1344	12	0	0	12	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00521074945836	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751050580	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0022	0.0018	3.129e-05	0.0018	0	2.71e-05	5.275e-05	0.0036	0.0002	0.0004	0.0006	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0023	0.0020	4.881e-05	0	0.0030	0.0003	0	0	0	0.0002	0.0010	0.0006	0.07	0.35349	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.919864	0.36646	D	2.36	0.67893	M	1.33	0.35031	T	-5.46	0.85541	D	0.251	0.28381	.	.	.	.	.	.	.	0.03756544	0.02119	T	0.005211	0.13279	T	.	.	.	.	0.369682402691	0.36581	0.3928589694864999	0.39200	4.073624099	0.99889	.	.	.	0.040787	0.25642	T	-0.489659	0.00652	T	-0.481065	0.24334	T	.	.	.	0.730627	0.34608	T	0.6340144	0.74512	0.57270443	0.75252	0.6340144	0.74513	0.57270443	0.75252	-2.09	0.03541	T	.	.	0.135	0.29228	B	.	.	2.013793	0.25593	16.82	0.99056653295261643	0.51390	0.00768	0.03170	N	AEFI	0.075431	0.15147	N	.	.	.	.	.	.	1.24580606210035E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.049000	0.13983	-0.871000	0.07103	0.142000	0.17677	0.000000	0.06391	0.000000	0.08366	0.156000	0.20513	0.0:5.0E-4:0.0:0.9995	4.588	0.11685	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	876.43	44	chr15	30614278	.	T	C	876.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.662;DP=429;ExcessHet=0;FS=0.897;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.69;MQRankSum=1.11;QD=11.69;ReadPosRankSum=0.518;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1115	9	0	1	0
chr15	30910758	30910758	G	A	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_001146094:exon4:c.G1520A:p.R507H,FAN1:NM_001146095:exon4:c.G1520A:p.R507H,FAN1:NM_001146096:exon4:c.G1520A:p.R507H,FAN1:NM_014967:exon4:c.G1520A:p.R507H	Interstitial nephritis, karyomegalic, Autosomal recessive	9	1493	20	0	0	20	0.00665336	.	.	.	611371	not_provided|Karyomegalic_interstitial_nephritis	MedGen:C3661900|MONDO:MONDO:0013898,MedGen:C3553774,OMIM:614817,Orphanet:401996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0189717690026	0.0057	0.00279553	0.0062	0.0012	0.0046	0.0002	0.0051	0.0086	0.0066	0.0042	0.0063324	979	154602	rs150393409	0.0092	0.0092	0.0093	0.0091	0.0106	0.0091	0.0090	0.0105	0.0104	0.0016	0.0048	0.0105	0.0015	0.0044	0.0050	0.0106	0.0077	0.0035	0.0060	0.0061	0.0066	0.0054	0.0099	0.0057	0.0056	0.0093	0.0090	0.0015	0	0.0046	0.0061	0.0006	0.0054	0.0034	0.0099	0.0085	0.0027	0.03	0.47320	D	0.048	0.48594	D	0.911	0.50336	P	0.3	0.41053	B	0.000974	0.40836	D	0.243693	0.996834	0.43448	D	2.27	0.64531	M	1.02	0.40749	T	-2.8	0.59226	D	0.15	0.23125	-0.9468	0.41515	T	0.081	0.32060	T	10	0.008552343	0.00194	T	0.018972	0.41201	T	0.107	0.30369	.	.	0.430351802785	0.42654	0.2506191388239531	0.24975	0.466306968941	0.46040	0.266212940216	0.05654	T	0.111564	0.42715	T	-0.452893	0.01086	T	-0.415935	0.31542	T	0.0192811211148672	0.00634	T	0.894511	0.63379	D	0.21203284	0.43545	0.11507595	0.27778	0.14459923	0.33183	0.11507595	0.27778	-5.903	0.45461	T	.	.	0.119	0.35498	B	.;.;.;.	.;.;.;.	3.545172	0.49806	22.8	0.99483325144131241	0.67014	0.86753	0.46102	D	AEFBI	0.140817	0.26281	N	-0.0498798670126982	0.39607	2.338475	-0.0486470361801252	0.37550	2.200037	0.0108064517527047	0.12084	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.59	2.62	0.30337	3.428000	0.52560	4.431000	0.43351	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.1695:0.8305:0.0	17.667	0.88109	856	0.34373	.;.;.;.	.	.	.	.	rs150393409	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	564.43	34	chr15	30910758	.	G	A	564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.042;DP=386;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=0.601;SOR=0.605	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1215	9	0	1	0
chr15	30954769	30954769	C	T	exonic	MTMR10	.	nonsynonymous SNV	MTMR10:NM_017762:exon10:c.G1060A:p.V354I	.	453	1047	19	3	0	25	0.011798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	.	0.0055	0.00379393	0.0085	0.0018	0.0045	0	0.0024	0.0117	0.0068	0.0103	0.0055303	855	154602	rs142149917	0.0055	0.0055	0.0053	0.0056	0.0093	0.0053	0.0053	0.0073	0.0067	0.0008	0.0032	0.0083	2.546e-05	0.0026	0.0093	0.0058	0.0053	0.0074	0.0048	0.0048	0.0053	0.0044	0.0075	0.0045	0.0044	0.0069	0.0067	0.0014	0	0.0048	0.0084	0	0.0024	0.0068	0.0075	0.0043	0.0066	0.368	0.18434	T	0.075	0.53426	T	0.522	0.37544	P	0.031	0.21939	B	0.000032	0.55875	N	0.121057	0.999992	0.81001	D	0.675	0.16386	N	-2.51	0.89293	D	0.21	0.05310	N	0.157	0.16308	-0.1454	0.79031	T	0.450	0.78437	T	10	0.008710831	0.00197	T	.	.	.	0.233	0.53499	.	.	0.900147024139	0.89915	0.14415867283362968	0.14338	0.165253988044	0.18640	0.407954901457	0.26173	T	0.225415	0.59015	T	-0.310434	0.07709	T	-0.213144	0.53395	T	0.0110094550205631	0.00159	T	0.827517	0.49142	T	0.06319648	0.13281	0.059898365	0.11318	0.06319648	0.13281	0.059898365	0.11318	-4.402	0.29585	T	.	.	0.065	0.05145	B	.;.;.	.;.;.	2.887990	0.38240	20.7	0.96400322932293181	0.29685	0.82802	0.41981	D	AEFDGBCI	0.390379	0.46923	N	-0.0270339556190789	0.40633	2.41646	0.0602346980887298	0.42569	2.57706	0.999999999995392	0.74766	0.722319	0.85440	0	0.708844	0.79440	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.32	4.4	0.52402	2.263000	0.42950	4.829000	0.45183	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.961000	0.51904	0.0:0.9259:0.0:0.0741	13.603	0.61499	830	0.39242	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain;Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.005435	0.000000	0.000000	0.008621	0.018293	0.011364	0.05	680.43	38	chr15	30954769	.	C	T	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=0.061;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,946	9	0	1	0
chr15	31050561	31050561	G	T	exonic	TRPM1	.	nonsynonymous SNV	TRPM1:NM_001252020:exon11:c.C1336A:p.P446T,TRPM1:NM_002420:exon11:c.C1219A:p.P407T,TRPM1:NM_001252024:exon12:c.C1285A:p.P429T	Night blindness, congenital stationary (complete), 1C, autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	.	338386	TRPM1-related_disorder|Congenital_stationary_night_blindness_1C|not_provided	.|MONDO:MONDO:0013183,MedGen:C2750747,OMIM:613216,Orphanet:215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0173083298104	0.0002	0.000798722	0.0010	0	0.0003	0.0001	0	4.497e-05	0	0.0070	0.0008409	130	154602	rs374376006	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0	0	0	2.519e-05	0	0.0023	3.058e-05	0.0005	0.0080	0.0003	0.0003	0.0001	0.0005	0.0091	0.0002	0.0002	0.0070	0.0062	0	0	0	0	0	0	0	7.352e-05	0	0.0091	0.09	0.34982	T	0.36	0.17014	T	0.105	0.25993	B	0.036	0.22909	B	0.001441	0.38980	N	0.261461	0.978652	0.39483	D	0	0.06538	N	0.79	0.53088	T	-0.73	0.20576	N	0.191	0.24260	-1.0441	0.16089	T	0.071	0.28773	T	10	0.004579723	0.00095	T	0.017308	0.38957	T	0.071	0.20720	.	.	0.33110744837	0.32714	0.23257025644392834	0.23172	0.235449902701	0.26076	0.414190948009	0.27037	T	0.112655	0.42909	T	-0.445086	0.01207	T	-0.407266	0.32542	T	0.0387853520786441	0.03471	T	0.831417	0.49863	T	0.10582837	0.25023	0.0833775	0.19104	0.12601747	0.29527	0.07812132	0.17469	-6.174	0.49283	T	.	.	0.072	0.05579	B	.;.;.;.;.	.;.;.;.;.	1.885926	0.23953	16.21	0.97583065684799442	0.34747	0.96903	0.71570	D	AEFDBCI	0.393222	0.47095	N	-0.409194926242118	0.25145	1.36289	-0.284009402525718	0.28623	1.597451	0.999999997988619	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.97	4.97	0.65419	3.527000	0.53272	0.710000	0.20927	0.618000	0.50648	0.996000	0.39380	0.554000	0.25484	0.065000	0.16320	0.0:0.0:1.0:0.0	13.720	0.62204	819	0.41190	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004145	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.022727	0.05	866.43	75	chr15	31050561	.	G	T	866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.194;DP=429;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-2.868;SOR=0.461	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr15	32168303	32168303	G	A	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.G1354A:p.E452K,CHRNA7:NM_001190455:exon10:c.G1441A:p.E481K	Schizophrenia, neurophysiologic defect in	51	1428	43	0	0	43	0.0148327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00657931159067	.	.	0.0046	0	0	0	.	0.0081	.	0	0.0002305	6	26028	rs199504752	0.0045	0.0050	0.0044	0.0047	0.0153	0.0044	0.0044	0.0121	0.0109	0.0007	0.0049	0.0080	2.88e-05	0.0015	0.0153	0.0045	0.0053	0.0085	0.0034	0.0039	0.0036	0.0032	0.0076	0.0031	0.0030	0.0057	0.0053	0.0006	0.0077	0.0068	0.0047	0	0.0013	0.0179	0.0042	0.0088	0.0076	0.278	0.15613	T	0.264	0.23707	T	0.846	0.46778	P	0.531	0.48577	P	0.002256	0.36929	N	0.317619	0.999998	0.58761	D	1.82	0.47800	L	1.82	0.25018	T	-2.32	0.51968	N	0.429	0.53532	-1.1207	0.02288	T	0.070	0.28478	T	10	0.007461101	0.00170	T	0.006579	0.17358	T	0.159	0.41286	.	.	0.447901950027	0.44410	0.5973885767010677	0.59669	.	.	0.695635795593	0.66515	T	0.746071	0.93005	D	-0.0649489	0.42131	T	-0.331071	0.41350	T	0.0448825108585944	0.04581	T	0.953805	0.82399	D	0.21978775	0.44518	0.20101556	0.44061	0.21978775	0.44518	0.20101556	0.44060	-12.443	0.86942	D	.	.	0.117	0.37255	B	.;.;.;.;.	.;.;.;.;.	4.729647	0.76160	26.5	0.9986754952357213	0.94547	0.97502	0.75165	D	AEFGI	0.915276	0.87984	D	0.406373100601256	0.61773	4.382947	0.429274054156304	0.63395	4.572528	0.999550702800369	0.40362	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.99	3.99	0.45527	6.388000	0.73122	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	14.406	0.66656	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.023046	0.000000	0.026786	0.013514	0.250000	0.031250	0.019737	0.014085	0.05	229.43	34	chr15	32168303	.	G	A	229.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.483;DP=283;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=26.84;MQRankSum=-1.383;QD=6.75;ReadPosRankSum=0.221;SOR=0.223	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,995	9	0	1	0
chr15	32168354	32168354	C	T	exonic	CHRNA7	.	nonsynonymous SNV	CHRNA7:NM_000746:exon10:c.C1405T:p.R469C,CHRNA7:NM_001190455:exon10:c.C1492T:p.R498C	Schizophrenia, neurophysiologic defect in	196	1315	11	0	0	11	0.00416509	.	.	.	1291872	not_specified	MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.909	0.553253761345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170628768	0.0005	0.0004	0.0003	0.0008	0.0059	0.0005	0.0005	0.0054	0.0052	5.157e-05	0.0001	0	0.0002	0	0.0007	0.0001	0.0007	0.0059	0.0002	0.0002	0.0002	0.0002	0.0034	0.0001	0.0001	0.0017	0.0012	8.438e-05	0	9.531e-05	0	0.0006	0	0.0039	0.0001	0	0.0034	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000034	0.55875	D	0.156522	1	0.81001	D	4.465	0.98868	H	-2.5	0.89219	D	-6.76	0.92980	D	0.804	0.82257	0.957	0.96498	D	0.868	0.95597	D	10	0.9478278	0.94111	D	0.553254	0.95891	D	0.909	0.97549	0.887	0.97178	0.90926303857	0.90835	0.8656135148711886	0.86526	.	.	0.892295122147	0.95543	D	0.945412	0.99174	D	0.458168	0.92843	D	0.42035	0.92755	D	0.204311055630479	0.20652	T	0.999706	0.99908	D	0.73728424	0.80137	0.6016395	0.76854	0.73728424	0.80139	0.6016395	0.76855	-14.885	0.95577	D	.	.	0.985	0.92184	P	.;.;.;.;.	.;.;.;.;.	5.941134	0.94130	33	0.99915473679406486	0.98379	0.92927	0.56890	D	AEFGI	0.702531	0.65887	D	0.743938986608554	0.82508	7.780338	0.601407334097103	0.75040	6.241057	0.0419777051083595	0.14506	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	3.66	3.66	0.41111	4.543000	0.60395	7.613000	0.61989	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.669	0.61890	964	0.07719	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	47.45	19	chr15	32168354	.	C	T	47.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.84;DP=145;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=26.55;MQRankSum=0.319;QD=3.95;ReadPosRankSum=-1.543;SOR=0.148	GT:AD:DP:GQ:PL	0/0:15,0:15:45:0,45,590	9	0	1	0
chr15	32401403	32401403	T	A	exonic	GOLGA8K;GOLGA8T	.	nonsynonymous SNV	GOLGA8K:NM_001282493:exon2:c.A121T:p.S41C	.	645	845	23	9	0	41	0.0236857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00678986209873	.	.	0.0042	0	0	0	0	0.0079	0	0	9.7e-05	15	154602	rs200674603	0.0094	0.0100	0.0087	0.0101	0.0203	0.0092	0.0092	0.0194	0.0191	0.0014	0.0036	0.0050	0.0001	0.0052	0.0086	0.0094	0.0108	0.0203	0.0069	0.0070	0.0073	0.0065	0.0145	0.0065	0.0063	0.0110	0.0098	0.0020	0.0101	0.0060	0.0066	0.0003	0.0025	0	0.0099	0.0071	0.0145	0.004	0.65419	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.58	0.69118	D	0.164	0.17278	-0.8777	0.49943	T	0.141	0.46072	T	6	0.0053943694	0.00118	T	0.00679	0.17953	T	0.048	0.13305	.	.	0.0138822411134	0.00435	0.14018493067096638	0.13941	3.36241963825	0.99660	.	.	.	.	.	.	-0.181247	0.23550	T	-0.498125	0.22542	T	0.0572239640983347	0.06724	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20469	B	.	.	1.592556	0.20368	14.72	0.97014196961605725	0.31997	0.01335	0.04597	N	AEFI	0.037893	0.05280	N	-0.682610803543696	0.16517	0.8422463	-0.961490719195059	0.10657	0.5381564	4.01112703668882E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.68	-2.84	0.05408	0.017000	0.13294	-0.444000	0.09141	0.204000	0.17941	0.002000	0.15269	0.000000	0.08366	0.155000	0.20479	0.0:0.3897:0.2715:0.3388	3.195	0.06234	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	627.2	36	chr15	32401403	.	T	A	627.2	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.247;DP=256;ExcessHet=0;FS=2.2;MLEAC=1;MLEAF=0.063;MQ=33.71;MQRankSum=0.691;QD=10.45;ReadPosRankSum=-0.882;SOR=1.051	GT:AD:DP:GQ:PL	./.:.:.:.:.	7	0	1	2
chr15	32603207	32603207	A	G	exonic	GOLGA8N	.	nonsynonymous SNV	GOLGA8N:NM_001282494:exon16:c.A1390G:p.K464E	.	249	1272	1	0	0	1	0.000392927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00102734515126	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1201454724	0.0002	0.0007	0.0002	0.0001	0.0012	0.0001	0.0001	0.0007	0.0006	0.0012	0.0002	0.0022	0	0	0.0004	6.645e-05	0.0003	2.044e-05	0.0006	0.0018	0.0006	0.0005	0.0022	0.0005	0.0004	0.0012	0.0009	0.0011	0	0.0004	0.0046	0.0022	0	0	6.005e-05	0.0015	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999993	0.08975	N	-0.855	0.01474	N	2.0	0.21473	T	0.9	0.01641	N	0.04	0.06587	-0.9952	0.31245	T	0.016	0.06711	T	6	0.013296455	0.00283	T	0.001027	0.01144	T	0.083	0.24192	0.151	0.05441	0.0482279557977	0.04254	0.1731095461279115	0.17230	.	.	.	.	.	0.002663	0.02055	T	-0.263549	0.12487	T	-0.616346	0.11475	T	0.0623600792419102	0.07536	T	0.544846	0.18617	T	0.030394388	0.02696	0.047531247	0.06865	0.030394388	0.02695	0.047531247	0.06865	-3.95	0.23053	T	.	.	0.052	0.00216	B	.;.	.;.	-0.139107	0.03417	0.621	0.15305716407731454	0.00369	0.15184	0.18786	N	AEFI	0.066289	0.12973	N	-1.32607195302854	0.03380	0.1508733	-1.50145058870284	0.02333	0.1071559	0.0779126217314249	0.15773	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.626	-1.25	0.08920	0.965000	0.28916	-1.960000	0.04430	-1.123000	0.01469	0.998000	0.41325	0.000000	0.08366	0.002000	0.04165	0.335:0.4394:0.2256:0.0	3.913	0.08710	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	97.43	44	chr15	32603207	.	A	G	97.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=524;ExcessHet=0;FS=0.947;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.47;MQRankSum=-2.291;QD=0.78;ReadPosRankSum=0.248;SOR=0.698	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1347	9	0	1	0
chr15	32636795	32636795	T	G	exonic	ARHGAP11A	.	nonsynonymous SNV	ARHGAP11A:NM_001286479:exon12:c.T1455G:p.F485L,ARHGAP11A:NM_014783:exon12:c.T2022G:p.F674L,ARHGAP11A:NM_001286480:exon13:c.T1455G:p.F485L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00363863242236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	1.368e-06	2.728e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	0.02366	T	0.88	0.03558	T	0.001	0.07471	B	0.001	0.04355	B	0.653343	0.10493	N	0.838762	1	0.08975	N	0.85	0.21244	L	3.1	0.08283	T	-0.52	0.16187	N	0.041	0.03613	-0.9160	0.46090	T	0.012	0.04463	T	10	0.030726612	0.01201	T	0.003639	0.08371	T	0.021	0.04004	0.316	0.29258	0.229924730088	0.22615	0.10233617887890724	0.10163	0.0353957791626	0.03735	0.277060091496	0.07086	T	0.008735	0.08002	T	-0.386885	0.02817	T	-0.79351	0.02070	T	0.0359022382229596	0.02964	T	0.514549	0.16570	T	0.031059848	0.02878	0.027642746	0.00932	0.031059848	0.02878	0.027642746	0.00932	-2.657	0.06949	T	.	.	0.254	0.59595	B	.;.;.	.;.;.	0.375174	0.07474	4.112	0.73584055475571952	0.10381	0.07179	0.13204	N	AEFGBI	0.111011	0.21994	N	-1.12109093715767	0.06269	0.2881277	-1.13579913227194	0.07025	0.3402416	0.999911088882851	0.45857	0.706548	0.73137	0	0.601644	0.50151	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.91	-0.845	0.10194	-0.158000	0.10058	-0.997000	0.06659	0.665000	0.62972	0.051000	0.21449	0.000000	0.08366	0.706000	0.34326	0.1289:0.3192:0.3807:0.1712	2.905	0.05367	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1200.43	34	chr15	32636795	.	T	G	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.333;DP=404;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.862;SOR=0.79	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1212,0,1231	9	0	1	0
chr15	32730793	32730793	C	G	exonic	GREM1	.	nonsynonymous SNV	GREM1:NM_001191323:exon2:c.C103G:p.P35A,GREM1:NM_001368719:exon2:c.C103G:p.P35A,GREM1:NM_013372:exon2:c.C103G:p.P35A	.	408	1102	12	0	0	12	0.00541516	.	.	.	265636	not_provided|not_specified|Hereditary_cancer-predisposing_syndrome|Familial_colorectal_cancer	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0023113,MedGen:CN280943	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.00499047751017	0.0026	0.00179712	0.0031	0.0012	0.0014	0	0.0002	0.0036	0.0034	0.0059	0.0031112	481	154602	rs111262341	0.0045	0.0045	0.0044	0.0045	0.0051	0.0044	0.0043	0.0050	0.0050	0.0004	0.0013	0.0010	0	0.0005	0.0049	0.0051	0.0038	0.0050	0.0026	0.0026	0.0027	0.0025	0.0045	0.0024	0.0023	0.0041	0.0039	0.0008	0	0.0023	0.0014	0	0.0002	0	0.0045	0.0019	0.0031	0.0	0.91255	D	0.265	0.92824	T	0.07	0.23866	B	0.015	0.17295	B	0.000000	0.84330	D	0.052048	0.999955	0.54805	D	2.19	0.61577	M	1.54	0.30133	T	-8.0	0.96495	D	0.267	0.79792	-1.1058	0.03457	T	0.056	0.23639	T	10	0.008786708	0.00215	T	0.00499	0.12598	T	.	.	.	.	0.495690748178	0.49203	0.32391209585146763	0.32304	.	.	0.609098255634	0.54187	T	0.375545	0.73912	T	-0.471277	0.00834	T	-0.448504	0.27861	T	0.0900915715714855	0.11229	T	.	.	.	0.107054636	0.25313	0.18055955	0.40863	0.108345784	0.25616	0.2241801	0.47321	-3.119	0.14642	T	.	.	0.151	0.33435	B	.;.;.	.;.;.	2.703579	0.35325	19.87	0.97190361068678544	0.32762	0.94500	0.61366	D	ALL	0.774919	0.70849	D	0.0884072060178403	0.45922	2.840788	0.257792549317994	0.53093	3.480138	1.0	0.98316	0.59774	0.34471	0	0.59043	0.45803	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.25	5.25	0.73169	6.163000	0.71702	6.022000	0.52807	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:1.0:0.0:0.0	19.047	0.93008	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.002717	0.000000	0.000000	0.008621	0.009146	0.003788	0.05	848.43	33	chr15	32730793	.	C	G	848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.407;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.557;SOR=0.715	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1217	9	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	282.94	81	chr15	33066576	.	A	G	282.94	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.393;DP=793;ExcessHet=0.7463;FS=134.716;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.803;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:73,0:73:0:.:.:0,0,1177:.	1	0	3	6
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	498.01	74	chr15	33066577	.	C	G	498.01	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-1.258;DP=776;ExcessHet=0.7463;FS=182.948;InbreedingCoeff=-0.4302;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=0.966;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:73,0:73:0:.:.:0,0,1177:.	1	0	3	6
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	182.24	83	chr15	33066579	.	C	G	182.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.471;DP=786;ExcessHet=0.2348;FS=86.775;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.8;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:98,0:98:42:.:.:0,42,1949:.	5	0	2	3
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	406.82	74	chr15	33066580	.	C	G	406.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.992;DP=746;ExcessHet=0.2348;FS=135.913;InbreedingCoeff=-0.2903;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.37;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:83,0:83:0:.:.:0,0,1646:.	3	0	2	5
chr15	33066583	33066583	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1302C:p.E434D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0174432321193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.18061	T	0.252	0.29056	T	0.724	0.62824	P	0.292	0.58300	B	0.000000	0.84330	D	0.049723	.	.	.	.	.	.	1.03	0.48142	T	-0.87	0.23590	N	0.263	0.29774	-0.6821	0.61275	T	0.170	0.51052	T	8	0.18176183	0.33423	T	0.017443	0.39139	T	0.205	0.49236	0.196	0.10839	0.633120732306	0.63011	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.101551	0.36169	T	-0.383648	0.35295	T	0.987011551856995	0.77596	D	.	.	.	.	.	.	.	.	.	.	.	-7.933	0.60613	D	.	.	0.457	0.69267	A	.;.	.;.	1.631232	0.20829	14.93	0.99234608538238822	0.56342	0.62108	0.31682	D	AEFBCI	0.207444	0.33361	N	0.193011064254835	0.50863	3.272384	0.226642513300989	0.51332	3.316546	0.999944989826091	0.47345	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	0.147000	0.16021	1.800000	0.28874	0.599000	0.40250	0.988000	0.36536	1.000000	0.68203	0.964000	0.52637	0.0:0.7464:0.0:0.2536	10.665	0.44923	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	153.72	83	chr15	33066583	.	C	G	153.72	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-2.454;DP=805;ExcessHet=0.2348;FS=82.843;InbreedingCoeff=-0.1766;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.92;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:88,0:88:57:.:.:0,57,1717:.	6	0	2	2
chr15	33088938	33088938	T	C	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon5:c.A1904G:p.N635S	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0149	0	0	0	0	0.0017	0.0227	0.0229	0.0016559	256	154602	rs181008299	0.0026	0.0024	0.0020	0.0032	0.0218	0.0025	0.0025	0.0209	0.0206	0.0001	0.0011	0.0002	2.798e-05	0.0148	0.0067	0.0010	0.0027	0.0218	0.0023	0.0023	0.0016	0.0030	0.0203	0.0021	0.0020	0.0170	0.0158	9.627e-05	0	0.0015	0	0.0004	0.0115	0	0.0014	0.0009	0.0203	0.882	0.02532	T	0.512	0.10750	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.22	0.03977	N	1.11	0.38883	T	0.11	0.05706	N	0.026	0.00527	.	.	.	.	.	.	.	0.0014220476	0.00015	T	.	.	.	.	.	.	.	.	.	0.029195515721522472	0.02868	.	.	0.276002764702	0.06942	T	0.04835	0.27991	T	-0.708137	0.00033	T	-0.77238	0.02690	T	.	.	.	.	.	.	0.02616488	0.01640	0.034886222	0.02636	0.02616488	0.01639	0.034886222	0.02635	-1.13	0.01155	T	.	.	0.054	0.00309	B	.;.	.;.	-0.517751	0.01811	0.142	0.52692756404091912	0.04796	0.00826	0.03330	N	AEFBI	0.032923	0.03812	N	.	.	.	.	.	.	0.999999999668005	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.17	-10.3	0.00281	-1.774000	0.01882	-3.680000	0.02610	-0.718000	0.03832	0.010000	0.18352	0.000000	0.08366	0.812000	0.38265	0.1073:0.4907:0.2352:0.1668	5.498	0.16102	860	0.33753	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1317.43	34	chr15	33088938	.	T	C	1317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.342;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=0.511;SOR=0.67	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr15	33153237	33153237	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.C1678T:p.R560C,FMN1:NM_001277314:exon4:c.C1678T:p.R560C	.	434	1080	8	0	0	8	0.00369004	.	.	.	779769	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.098	.	.	0.00439297	0.0056	0.0036	0	0	0.0187	0.0100	0.0070	0.0033	0.0018176	281	154602	rs149624435	0.0063	0.0059	0.0065	0.0061	0.0099	0.0062	0.0061	0.0091	0.0087	0.0009	0.0099	0.0093	0	0.0157	0.0044	0.0064	0.0075	0.0025	0.0061	0.0061	0.0053	0.0070	0.0138	0.0058	0.0057	0.0123	0.0117	0.0011	0	0.0138	0.0081	0	0.0138	0.0068	0.0069	0.0104	0.0015	0.057	0.48186	T	0.056	0.51737	T	.	.	.	.	.	.	0.683920	0.10235	N	0.840853	.	.	.	-0.69	0.01958	N	0.9	0.45248	T	-1.47	0.54864	N	0.062	0.10911	-1.0424	0.16592	T	0.018	0.07282	T	8	0.0029478967	0.00048	T	.	.	.	0.098	0.28162	.	.	0.0986583533028	0.09354	0.1563622743832897	0.15557	.	.	0.225566387177	0.01656	T	0.261883	0.63340	T	-0.675925	0.00051	T	-0.735734	0.04072	T	0.0254012594162825	0.01326	T	.	.	.	0.059815276	0.12200	0.046990823	0.06672	0.059815276	0.12199	0.046990823	0.06672	-4.606	0.35373	T	.	.	0.090	0.22282	B	.;.;.;.	.;.;.;.	0.485703	0.08551	5.315	0.97901653358067131	0.36745	0.02839	0.07588	N	AEFBI	0.091391	0.18511	N	-1.60297213677561	0.01249	0.05437208	-1.66272089822625	0.01311	0.05916885	0.999998174442678	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.05	-6.15	0.01925	-2.329000	0.01192	-2.919000	0.03230	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.2522:0.2236:0.1851:0.3391	0.195	0.00129	895	0.25842	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1807.43	33	chr15	33153237	.	G	A	1807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.57;SOR=0.707	GT:AD:DP:GQ:PL	0/1:62,74:136:99:1819,0,1328	9	0	1	0
chr15	33153747	33153747	G	A	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001277313:exon4:c.C1168T:p.R390W,FMN1:NM_001277314:exon4:c.C1168T:p.R390W	.	425	1081	14	2	0	18	0.00825688	.	.	.	1457925	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0150364903957	.	0.000399361	0.0006	0	0	0	0	0.0013	0	0.0004	0.0001294	20	154602	rs144328486	0.0005	0.0005	0.0005	0.0006	0.0146	0.0005	0.0005	0.0120	0.0111	0.0005	0.0012	0.0003	2.798e-05	2.947e-05	0.0146	0.0004	0.0012	0.0008	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0005	0.0004	0.0003	0	0.0008	0.0003	0	0	0.0068	0.0005	0.0038	0.0006	0.002	0.72154	D	0.018	0.65728	D	.	.	.	.	.	.	0.061616	0.22159	N	0.336013	.	.	.	0.345	0.11182	N	0.88	0.46028	T	-2.39	0.52612	N	0.189	0.24883	-0.8788	0.49856	T	0.081	0.31943	T	8	0.023217082	0.00601	T	0.015036	0.35538	T	0.074	0.21613	.	.	0.548571244948	0.54512	0.06263845914463202	0.06203	.	.	0.210625976324	0.00838	T	0.274527	0.64702	T	-0.452316	0.01095	T	-0.488617	0.23535	T	0.0337495431303978	0.02596	T	.	.	.	0.10736155	0.25386	0.15047814	0.35488	0.10736155	0.25386	0.15047814	0.35487	-5.954	0.46869	T	.	.	0.081	0.17911	B	.;.;.;.	.;.;.;.	3.919247	0.57202	23.8	0.99894743611932291	0.96819	0.94694	0.62009	D	AEFBI	0.439958	0.49871	N	0.155373536887906	0.49066	3.111252	0.188358737837696	0.49208	3.126835	0.999992957311888	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.46	4.53	0.55009	2.462000	0.44706	4.808000	0.45020	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.240000	0.23001	0.0:0.1326:0.7299:0.1375	11.790	0.51339	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2846.43	33	chr15	33153747	.	G	A	2846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.056;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.233;SOR=0.688	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	9	0	1	0
chr15	34063186	34063186	A	G	exonic	CHRM5	.	nonsynonymous SNV	CHRM5:NM_001320917:exon2:c.A469G:p.I157V,CHRM5:NM_012125:exon3:c.A469G:p.I157V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00608151966891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-06	1.362e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.08736	T	0.711	0.05506	T	0.0	0.02946	B	0.008	0.13708	B	0.001334	0.39379	N	0.253724	0.940783	0.37310	D	1.04	0.26193	L	-0.63	0.72011	T	-0.31	0.12099	N	0.116	0.13198	-0.9830	0.34305	T	0.156	0.48790	T	10	0.18775466	0.34300	T	0.006082	0.15905	T	0.088	0.25558	0.626	0.76141	0.696999650619	0.69438	0.3752901866809695	0.37443	0.203521310822	0.22768	0.433097302914	0.29632	T	0.038005	0.24685	T	-0.116548	0.33690	T	-0.40519	0.32782	T	0.201341837644577	0.20489	T	0.738526	0.35642	T	0.040826816	0.05899	0.046792056	0.06597	0.040826816	0.05898	0.046792056	0.06597	-5.801	0.44583	T	.	.	0.066	0.02091	B	.;.	.;.	1.689680	0.21528	15.24	0.93943594996111024	0.24001	0.84478	0.43560	D	AEFI	0.151117	0.27553	N	-0.372412849230528	0.26456	1.444023	-0.174715919112262	0.32469	1.847582	0.157900605578005	0.17546	0.553676	0.25195	0	0.588015	0.36545	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	5.54	3.27	0.36580	3.740000	0.54802	3.666000	0.39422	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.998000	0.85391	0.8671:0.0:0.1329:0.0	9.432	0.37778	763	0.50172	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	376.43	195	chr15	34063186	.	A	G	376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.955;DP=541;ExcessHet=0;FS=143.78;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=1.86;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1485:.	9	0	1	0
chr15	34102535	34102535	T	A	exonic	PGBD4	.	nonsynonymous SNV	PGBD4:NM_152595:exon1:c.T4A:p.S2T	.	490	1030	0	2	0	4	0.00193798	.	.	.	2379911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.00431174868588	0.0002	0.000399361	0.0004	0.0005	0	0	0	0.0006	0	0	9.7e-05	15	154602	rs373391573	0.0001	0.0001	0.0001	0.0001	0.0041	9.749e-05	9.247e-05	0.0026	0.0022	0.0003	0.0002	8.734e-05	0	0	0.0041	9.492e-05	0.0002	8.078e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.249e-05	0.0001	8.876e-05	2.405e-05	0	0.0002	0	0	0	0.0034	0.0002	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	0.805	0.45210	P	0.483	0.47159	P	0.060405	0.02133	U	9.654370	1	0.08975	N	0	0.06538	N	2.21	0.18414	T	-0.65	0.18877	N	0.161	0.16864	-1.0439	0.16148	T	0.030	0.12804	T	10	0.058288604	0.06830	T	0.004312	0.10467	T	0.047	0.12962	.	.	0.0482279557977	0.04254	0.043267185638199174	0.04271	0.360697941279	0.37734	0.567278265953	0.48293	T	0.010844	0.09750	T	-0.464176	0.00925	T	-0.599986	0.12812	T	0.0518348508633186	0.05818	T	0.274673	0.04684	T	0.17557615	0.38423	0.13971719	0.33326	0.17557615	0.38422	0.13971719	0.33326	-5.808	0.44644	T	.	.	0.099	0.16800	B	.	.	1.417007	0.18331	13.68	0.89362726731431896	0.18732	0.04678	0.10359	N	AEFGBCI	0.039064	0.05622	N	-0.59726482704396	0.19028	0.9926387	-0.732945947787732	0.16142	0.8525335	0.999993278311695	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.043771	0.00183	3	0.665054	0.64577	0	.	.	0.793	0.793	0.17776	0.476000	0.21890	0.674000	0.20619	0.349000	0.19912	0.338000	0.25657	0.855000	0.27430	0.112000	0.18829	0.0:0.0:0.0:1.0	3.830	0.08383	776	0.48302	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003080	0.010309	0.002725	0.009375	0.000000	0.000000	0.000000	0.000000	0.05	785.43	36	chr15	34102535	.	T	A	785.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=392;ExcessHet=0;FS=0.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.234;SOR=0.824	GT:AD:DP:GQ:PL	0/1:41,34:75:99:797,0,923	9	0	1	0
chr15	34236018	34236018	C	T	exonic	SLC12A6	.	nonsynonymous SNV	SLC12A6:NM_001042497:exon22:c.G3179A:p.R1060H,SLC12A6:NM_005135:exon23:c.G3071A:p.R1024H,SLC12A6:NM_133647:exon23:c.G3224A:p.R1075H,SLC12A6:NM_001042494:exon24:c.G3047A:p.R1016H,SLC12A6:NM_001042495:exon24:c.G3047A:p.R1016H,SLC12A6:NM_001042496:exon24:c.G3197A:p.R1066H,SLC12A6:NM_001365088:exon24:c.G3224A:p.R1075H	Agenesis of the corpus callosum with peripheral neuropathy, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0631098167343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.793e-06	4.788e-06	5.451e-06	4.129e-06	2.992e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	2.992e-05	0	0	0	0	0	5.402e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.007	0.69154	D	0.987	0.66517	D	0.703	0.54683	P	0.000004	0.62929	N	0.055638	0.999999	0.58761	D	2.085	0.57729	M	0.73	0.50721	T	-2.36	0.52128	N	0.23	0.34981	-0.7012	0.60381	T	0.208	0.56785	T	10	0.21460304	0.37988	T	0.06311	0.68866	D	0.236	0.53931	0.434	0.48500	0.345684270296	0.34182	0.6566801924849096	0.65604	1.85388991928	0.92312	0.527407765388	0.42670	T	0.791813	0.94599	D	0.0567883	0.59209	T	-0.156204	0.58692	T	0.893995457763778	0.54531	D	0.980602	0.93381	D	0.30820328	0.53630	0.29619	0.55651	0.30820328	0.53630	0.29619	0.55650	-8.032	0.61288	D	.	.	0.257	0.54049	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.359634	0.89882	31	0.99947459260676075	0.99913	0.78798	0.38932	D	AEFBI	0.262182	0.37998	N	0.477024221568081	0.65751	4.86203	0.506057459403517	0.68398	5.214432	0.999770109835535	0.42865	0.706548	0.73137	0	0.702456	0.74545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	2.630000	0.46160	4.942000	0.46218	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.064	0.89312	820	0.40914	.;.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;.;SLC12A transporter, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1599.43	35	chr15	34236018	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.628;DP=436;ExcessHet=0;FS=1.492;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.975;SOR=0.56	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,101,1405	9	0	1	0
chr15	40336656	40336656	C	T	exonic	CCDC9B	.	nonsynonymous SNV	CCDC9B:NM_207380:exon9:c.G937A:p.G313R	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0040	0.00259585	0.0055	0.0009	0.0031	0	0.0036	0.0072	0.0078	0.0065	0.0048512	750	154602	rs138396559	0.0050	0.0050	0.0049	0.0052	0.0109	0.0049	0.0049	0.0087	0.0079	0.0007	0.0033	0.0070	2.525e-05	0.0050	0.0109	0.0052	0.0050	0.0069	0.0047	0.0047	0.0047	0.0048	0.0062	0.0045	0.0043	0.0057	0.0056	0.0008	0.1195	0.0025	0.0049	0.0004	0.0052	0.0171	0.0062	0.0047	0.0062	0.004	0.65419	D	0.19	0.30143	T	1.0	0.90584	D	0.975	0.76457	D	0.000046	0.53742	D	0.070468	0.999776	0.48980	D	.	.	.	0.94	0.43672	T	-1.05	0.27463	N	0.29	0.32812	-0.7712	0.56792	T	0.181	0.52874	T	10	0.0044273436	0.00090	T	.	.	.	0.166	0.42578	0.382	0.39970	0.631501200734	0.62848	0.02736409207721265	0.02686	0.205483677471	0.22968	.	.	.	0.061483	0.31665	T	-0.310046	0.07744	T	-0.213009	0.53408	T	0.0236911876822868	0.01107	T	0.667933	0.27701	T	0.17114995	0.37732	0.17830785	0.40492	0.17114995	0.37732	0.17830785	0.40491	-3.251	0.14576	T	.	.	0.112	0.22098	B	.;.	.;.	3.063537	0.41155	21.3	0.99917179155492786	0.98518	0.80892	0.40416	D	AEFDBCI	0.390199	0.46912	N	0.520420012081599	0.68298	5.198035	0.470236461988605	0.66026	4.89887	0.999999998419457	0.74766	0.562547	0.31514	0	0.61073	0.52368	0	0.491614	0.08109	1	0.635551	0.53088	0	.	.	5.52	5.52	0.82153	1.805000	0.38520	2.186000	0.31169	-0.176000	0.10722	0.110000	0.22992	0.868000	0.27561	0.097000	0.18139	0.0:1.0:0.0:0.0	14.947	0.70688	704	0.57414	.;.	.	.	.	.	chr15:40628857	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.005051	0.013587	0.008772	0.050000	0.017241	0.009146	0.018939	0.05	1222.43	34	chr15	40336656	.	C	T	1222.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.153;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.506;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1137	9	0	1	0
chr15	40356171	40356171	T	0	exonic	PHGR1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1056.74	35	chr15	40356171	.	T	*	1056.74	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.866;DP=369;ExcessHet=1.5895;FS=2.651;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.333;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:9,0:21:99:0|1:40356171_T_C:413,440,818:40356171	8	0	1	1
chr15	40356195	40356195	T	0	exonic	PHGR1	.	.	.	.	539	674	108	8	193	317	0.0842391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	744.66	35	chr15	40356195	.	T	*	744.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.24;DP=340;ExcessHet=0.8432;FS=1.783;InbreedingCoeff=-0.2098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.59;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:9,0:23:99:0|1:40356171_T_C:319,346,724:40356171	8	0	1	1
chr15	40356196	40356196	G	0	exonic	PHGR1	.	.	.	.	536	677	108	8	193	317	0.0838972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	744.66	35	chr15	40356196	.	G	*	744.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.15;DP=335;ExcessHet=0.8432;FS=1.783;InbreedingCoeff=-0.2098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.309;SOR=0.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:9,0:23:99:0|1:40356171_T_C:319,346,724:40356171	8	0	1	1
chr15	40356197	40356197	G	0	exonic	PHGR1	.	.	.	.	535	678	108	8	193	317	0.0837838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	722.66	35	chr15	40356197	.	G	*	722.66	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.122;DP=336;ExcessHet=0.8432;FS=1.844;InbreedingCoeff=-0.2098;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.21;ReadPosRankSum=-0.038;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:9,0:23:99:0|1:40356171_T_C:319,346,724:40356171	8	0	1	1
chr15	40367236	40367236	A	T	exonic	DISP2	.	nonsynonymous SNV	DISP2:NM_033510:exon8:c.A1124T:p.Y375F	.	419	1092	11	0	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.0138015359055	0.0038	0.000599042	0.0028	0.0007	0.0016	0	0.0011	0.0041	0.0022	0.0017	0.0029819	461	154602	rs140120816	0.0047	0.0047	0.0047	0.0047	0.0057	0.0046	0.0046	0.0055	0.0055	0.0007	0.0015	3.826e-05	0	0.0007	0.0033	0.0057	0.0038	0.0020	0.0031	0.0031	0.0032	0.0030	0.0054	0.0028	0.0027	0.0050	0.0048	0.0010	0.0132	0.0012	0	0.0002	0.0004	0.0102	0.0054	0.0043	0.0010	0.126	0.27194	T	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	2.06	0.20523	T	-3.44	0.67477	D	0.524	0.55366	-1.0718	0.09022	T	0.081	0.31913	T	10	0.010289907	0.00230	T	0.013802	0.33474	T	0.374	0.69273	.	.	0.40318662893	0.39936	0.6264669422324108	0.62579	1.13346350566	0.78696	0.610062718391	0.54325	T	0.406913	0.76268	T	-0.374259	0.03384	T	-0.309421	0.43720	T	0.0292433844621151	0.01874	T	0.835616	0.50622	T	0.35556233	0.57497	0.20925325	0.45262	0.35556233	0.57497	0.20925325	0.45261	-7.58	0.58171	D	.	.	0.192	0.41171	B	.	.	3.953223	0.57923	23.9	0.98327876198374875	0.40309	0.96947	0.71814	D	AEFGBCI	0.910034	0.86743	D	0.585146463874341	0.72247	5.775778	0.545486328544865	0.71082	5.601267	0.999999999999702	0.74766	0.582742	0.33608	0	0.610034	0.51514	0	0.61531	0.40942	0	0.530356	0.10902	0	.	.	5.1	5.1	0.68917	8.723000	0.91189	11.292000	0.92056	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.494000	0.28882	1.0:0.0:0.0:0.0	15.048	0.71509	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1511.43	34	chr15	40367236	.	A	T	1511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.25;DP=448;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.887;SOR=0.665	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	9	0	1	0
chr15	40902923	40902923	G	A	exonic	VPS18	.	nonsynonymous SNV	VPS18:NM_020857:exon5:c.G2504A:p.R835Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	3491374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00477425958629	0.0005	.	0.0003	0	0	0	0.0002	0.0005	0.0011	0	0.0002717	42	154602	rs200156144	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	5.974e-05	0.0001	0	0	1.873e-05	0.0003	0.0005	0.0003	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0004	0.0003	2.411e-05	0	0	0	0	0	0	0.0005	0	0	0.341	0.12673	T	0.406	0.14725	T	0.0	0.02946	B	0.001	0.04355	B	0.003752	0.34535	N	0.292780	0.909388	0.27539	N	-0.565	0.02318	N	1.02	0.40749	T	0.89	0.01641	N	0.137	0.13484	-1.0710	0.09194	T	0.034	0.14769	T	10	0.02867952	0.00998	T	0.004774	0.11910	T	0.071	0.20720	.	.	0.082315109003	0.07666	0.16780296062368244	0.16700	0.421723341277	0.42675	0.437890708447	0.30290	T	0.034749	0.23446	T	-0.554562	0.00274	T	-0.682648	0.06822	T	0.0461695204262542	0.04815	T	0.824018	0.48536	T	0.043190714	0.06686	0.042348504	0.05024	0.043190714	0.06685	0.042348504	0.05024	-3.112	0.11434	T	.	.	0.063	0.01408	B	.	.	3.190262	0.43345	21.7	0.99227949580435149	0.56120	0.85086	0.44190	D	AEFDGBCIJ	.	.	.	-0.393186115568472	0.25711	1.397752	-0.131578729707392	0.34124	1.95948	0.99999990218152	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.76	3.89	0.44098	5.314000	0.65589	6.486000	0.55748	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.3717:0.0:0.6283:0.0	5.380	0.15485	188	0.92666	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	5711.14	38	chr15	40902923	.	G	A	5711.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.71;DP=679;ExcessHet=0.2348;FS=2.216;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=1.31;SOR=0.723	GT:AD:DP:GQ:PL	0/1:78,110:188:99:2895,0,1727	8	0	2	0
chr15	41092155	41092155	C	T	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon5:c.G409A:p.E137K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.126427540163	.	.	8.291e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs763537541	6.872e-07	1.368e-06	0	1.383e-06	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.16144	T	0.064	0.44905	T	0.167	0.28604	B	0.012	0.16012	B	0.000000	0.84330	D	0.049572	0.993079	0.41828	D	0.895	0.22405	L	-2.9	0.91643	D	-1.47	0.35991	N	0.469	0.50508	0.062	0.83472	D	0.632	0.87115	D	10	0.21449819	0.37973	T	0.126428	0.80808	D	0.410	0.72176	0.133	0.03747	0.182106788282	0.17826	0.10645590777791607	0.10575	0.0514314691617	0.05660	0.680059731007	0.64277	T	0.049591	0.28350	T	0.0585364	0.59430	T	-0.153693	0.58916	T	0.601746928739137	0.36470	D	0.916508	0.70155	D	0.25096986	0.48102	0.26779434	0.52641	0.25096986	0.48102	0.26779434	0.52640	-6.581	0.50907	T	.	.	0.224	0.47094	B	.;.;.	.;.;.	3.823467	0.55226	23.6	0.99798006214769441	0.88283	0.99138	0.91786	D	AEFBI	0.669035	0.63661	D	-0.0300563622633332	0.40498	2.406036	0.113158685481346	0.45221	2.789131	0.999889214384319	0.44867	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	6.972000	0.75895	7.662000	0.64290	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.771000	0.36558	0.0:1.0:0.0:0.0	19.310	0.94170	300	0.87974	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	453.43	33	chr15	41092155	.	C	T	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=353;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-0.493;SOR=0.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1106	9	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	142.46	33	chr15	41096253	.	G	C	142.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.87;DP=572;ExcessHet=0.7463;FS=231.403;InbreedingCoeff=-0.1538;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.13;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:98:.:.:0,98,1162:.	7	0	3	0
chr15	41191441	41191441	C	A	splicing	EXD1	NM_001286441:exon10:c.864+1G>T;NM_152596:exon8:c.690+1G>T;NM_001385036:exon9:c.795+1G>T	.	.	.	.	.	.	.	.	.	.	0.9999	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.021e-07	2.061e-06	0	1.409e-06	9.241e-07	0	0	.	.	0	0	0	0	0	0	9.241e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.85627	D	0.246157	0.85438	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.989529	0.82714	27.9	0.9861207584635121	0.43651	0.98852	0.87708	D	AEFBI	.	.	.	0.999434606084906	0.95726	13.90353	0.823657466102563	0.91389	10.86131	0.999944271069346	0.47345	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.062806	0.01542	0	0.977133	0.80660	5.65	5.65	0.86881	5.332000	0.65686	7.395000	0.58538	0.531000	0.24825	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.485	0.87578	304	0.87780	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	499.43	38	chr15	41191441	.	C	A	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.098;DP=378;ExcessHet=0;FS=2.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=-0.325;SOR=1.362	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr15	41505926	41505926	C	T	exonic	LTK	.	nonsynonymous SNV	LTK:NM_206961:exon11:c.G1438A:p.V480I,LTK:NM_002344:exon12:c.G1621A:p.V541I	.	397	1119	6	0	0	6	0.0026738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.0471927391127	0.0012	0.000399361	0.0013	0.0002	0.0004	0	0.0018	0.0020	0	0	0.001229	190	154602	rs144319704	0.0013	0.0013	0.0013	0.0012	0.0014	0.0012	0.0012	0.0012	0.0011	2.987e-05	0.0008	0.0119	0	0.0008	0.0014	0.0012	0.0016	3.479e-05	0.0012	0.0012	0.0012	0.0012	0.0016	0.0010	0.0010	0.0013	0.0012	0.0002	0	0.0003	0.0130	0	0.0009	0	0.0016	0.0019	0	0.019	0.53900	D	0.005	0.72224	D	0.996	0.68779	D	0.922	0.70672	D	0.007448	0.31390	U	0.000000	1	0.81001	D	2.735	0.79925	M	-2.42	0.88611	D	-0.93	0.24898	N	0.449	0.55626	0.874	0.95333	D	0.837	0.94560	D	10	0.012692004	0.00272	T	0.047193	0.62810	D	0.684	0.88443	.	.	0.833424145843	0.83183	0.13691158332110695	0.13615	0.488308427124	0.47636	0.365865945816	0.20237	T	0.309446	0.72750	T	-0.153811	0.27718	T	-0.0290935	0.68428	D	0.0592762273416298	0.07053	T	0.908809	0.73814	D	0.2503465	0.48036	0.19271381	0.42801	0.2503465	0.48036	0.19271381	0.42800	-8.573	0.66270	D	.	.	0.306	0.56218	B	.;.;.	.;.;.	4.017165	0.59304	24.1	0.9988953304992908	0.96359	0.90939	0.52548	D	AEFDGBHCI	0.797683	0.72445	D	0.808156823627318	0.86614	8.942	0.74728906597532	0.85955	8.73721	0.999999999999928	0.74766	0.59774	0.34471	0	0.627178	0.54094	0	0.596491	0.31596	0	0.586402	0.36253	0	.	.	4.9	4.9	0.63643	7.644000	0.82556	2.813000	0.34919	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	17.901	0.88819	200	0.92234	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase, ATP binding site|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2615.14	103	chr15	41505926	.	C	T	2615.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.828;DP=510;ExcessHet=0.2348;FS=0.502;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.225;SOR=0.754	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1216	8	0	2	0
chr15	41520478	41520478	C	-	exonic	RPAP1	.	frameshift deletion	RPAP1:NM_015540:exon22:c.3708delG:p.Q1237Sfs*23	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2640.39	34	chr15	41520477	.	GC	G	2640.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.416;DP=455;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=-1.049;SOR=0.624	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	0	1	0
chr15	41527268	41527268	G	A	exonic	RPAP1	.	nonsynonymous SNV	RPAP1:NM_015540:exon13:c.C1645T:p.R549C	.	426	1084	10	2	0	14	0.00641613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	.	0.0043	0.00279553	0.0049	0.0024	0.0009	0	0.0135	0.0057	0.0078	0.0050	0.0050646	783	154602	rs35981448	0.0069	0.0069	0.0071	0.0068	0.0077	0.0068	0.0068	0.0076	0.0075	0.0015	0.0017	0.0005	0.0002	0.0136	0.0017	0.0077	0.0047	0.0042	0.0057	0.0057	0.0050	0.0063	0.0072	0.0054	0.0052	0.0067	0.0065	0.0017	0	0.0059	0.0020	0.0004	0.0155	0	0.0072	0.0043	0.0052	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.995	0.85803	M	2.03	0.20959	T	-5.84	0.90060	D	0.788	0.82964	-1.0623	0.11190	T	0.084	0.32900	T	10	0.011555076	0.00252	T	.	.	.	0.451	0.75143	.	.	0.470237251169	0.46650	0.7451716067819921	0.74463	0.874456839101	0.69516	0.557950854301	0.46978	T	0.212947	0.57413	T	-0.0764907	0.40283	T	0.126745	0.78679	D	0.03742197976602	0.03230	T	0.963804	0.88706	D	0.65940577	0.75867	0.4634589	0.68853	0.65940577	0.75868	0.4634589	0.68854	-5.435	0.41255	T	.	.	0.215	0.47228	B	.;.	.;.	5.385646	0.90245	31	0.99945488405638039	0.99886	0.97276	0.73739	D	AEFGBI	0.783400	0.71439	D	0.774964372576619	0.84518	8.310104	0.745527527574711	0.85821	8.696905	0.978984652333104	0.29978	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	6.154000	0.71621	8.647000	0.77918	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.0:0.8466:0.1534	13.834	0.62894	199	0.92292	.;.	.	.	.	.	rs35981448	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.002717	0.002924	0.000000	0.008621	0.015244	0.011364	0.05	1954.43	133	chr15	41527268	.	G	A	1954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.01;DP=961;ExcessHet=0;FS=1.385;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.909;SOR=0.559	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	9	0	1	0
chr15	41818902	41818902	C	T	exonic	MAPKBP1	.	nonsynonymous SNV	MAPKBP1:NM_001265611:exon20:c.C2236T:p.R746W,MAPKBP1:NM_014994:exon20:c.C2236T:p.R746W,MAPKBP1:NM_001128608:exon21:c.C2254T:p.R752W	Nephronophthisis 20, Autosomal recessive	431	1045	44	2	0	48	0.0224509	.	.	.	714428	not_provided|Nephronophthisis_20	MedGen:C3661900|MONDO:MONDO:0014997,MedGen:C4310640,OMIM:617271	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.107	.	0.0005	0.00319489	0.0031	0.0003	0.0007	0.0002	0	0.0009	0.0055	0.0177	0.0026649	412	154602	rs61729964	0.0015	0.0015	0.0010	0.0020	0.0166	0.0015	0.0015	0.0159	0.0156	0.0001	0.0006	0.0001	0.0001	5.619e-05	0.0090	0.0005	0.0018	0.0166	0.0010	0.0010	0.0008	0.0012	0.0158	0.0009	0.0008	0.0129	0.0119	4.81e-05	0	0.0008	0	0	0	0.0068	0.0008	0.0009	0.0158	0.021	0.49117	D	0.077	0.45530	T	0.021	0.18474	B	0.01	0.14941	B	0.048196	0.23275	N	0.333669	0.663262	0.30430	N	1.5	0.37844	L	1.07	0.39586	T	-3.01	0.62518	D	0.403	0.46742	-1.0138	0.25720	T	0.066	0.27364	T	10	0.005826086	0.00130	T	.	.	.	0.107	0.30369	.	.	0.184605227958	0.18053	0.4446293006906201	0.44380	0.768764430126	0.64661	0.371921271086	0.21108	T	0.137811	0.47096	T	-0.454713	0.01059	T	-0.412966	0.31884	T	0.0387262621537389	0.03461	T	0.849515	0.53247	T	0.086063445	0.19991	0.094566636	0.22389	0.088173196	0.20559	0.08228859	0.18767	-8.594	0.65049	D	.	.	0.149	0.32898	B	.;.;.	.;.;.	2.994304	0.39986	21.1	0.99809025248273031	0.89264	0.96210	0.68040	D	AEFGBI	0.497589	0.53205	N	-0.545389096938561	0.20628	1.088857	-0.387247725204634	0.25376	1.395155	0.969351297903443	0.29122	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.14	4.23	0.49319	2.484000	0.44900	2.215000	0.31401	-0.190000	0.09434	1.000000	0.71638	1.000000	0.68203	0.247000	0.23184	0.0:0.919:0.0:0.081	11.962	0.52303	214	0.91692	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.011078	0.010101	0.002717	0.005848	0.000000	0.017241	0.021341	0.022727	0.05	1810.43	38	chr15	41818902	.	C	T	1810.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.376;DP=497;ExcessHet=0;FS=5.835;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.284;SOR=1.149	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	9	0	1	0
chr15	41853395	41853395	C	T	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon59:c.G10033A:p.D3345N	.	412	1106	4	0	0	4	0.00180505	.	.	.	2817448	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.146	0.04476684005	0.0035	0.00159744	0.0033	0.0019	0.0013	0	0.0004	0.0051	0.0041	0.0015	0.0029948	463	154602	rs149954264	0.0051	0.0051	0.0054	0.0049	0.0063	0.0050	0.0050	0.0062	0.0062	0.0004	0.0013	3.84e-05	0	0.0011	0.0010	0.0063	0.0038	0.0012	0.0031	0.0031	0.0035	0.0026	0.0056	0.0028	0.0027	0.0051	0.0050	0.0011	0	0.0018	0	0	0.0006	0	0.0056	0.0014	0.0004	0.01	0.56456	D	0.004	0.74150	D	0.999	0.77913	D	0.984	0.76113	D	0.067788	0.21716	N	0.407064	0.732414	0.29816	N	2.45	0.71042	M	0.85	0.47130	T	-3.71	0.70674	D	0.252	0.28498	-0.3946	0.72197	T	0.264	0.63480	T	10	0.008194685	0.00186	T	0.044767	0.61651	D	0.146	0.38789	.	.	0.779090105017	0.77705	0.057450263223684045	0.05686	.	.	0.439294844866	0.30480	T	0.159928	0.50357	T	-0.61153	0.00124	T	-0.645929	0.09242	T	0.037168599805767	0.03186	T	0.562444	0.19755	T	0.13140665	0.30631	0.15890333	0.37084	0.13140665	0.30631	0.15890333	0.37084	-7.108	0.54818	T	.	.	0.120	0.24666	B	.	.	2.307453	0.29529	18.15	0.98953176063881787	0.49170	0.85103	0.44209	D	AEFBCI	0.205481	0.33182	N	0.0691802134732817	0.45029	2.766432	-0.13831217229313	0.33860	1.941471	0.999956689610922	0.48110	0.562547	0.31514	0	0.547309	0.14657	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.38	3.46	0.38718	2.956000	0.48822	2.069000	0.30434	-0.249000	0.07183	0.984000	0.35821	0.109000	0.22772	0.004000	0.06068	0.0:0.9154:0.0:0.0846	12.092	0.53030	222	0.91398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	713.43	34	chr15	41853395	.	C	T	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.508;DP=373;ExcessHet=0;FS=1.028;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.403;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1084	9	0	1	0
chr15	41853706	41853706	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon58:c.C9856T:p.P3286S	.	406	1114	2	0	0	2	0.000896861	.	.	.	2817449	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0072	0.00119808	0.0068	0.0015	0.0048	0	0.0056	0.0104	0.0083	0.0019	0.004379	677	154602	rs188061762	0.0072	0.0071	0.0074	0.0070	0.0085	0.0070	0.0070	0.0083	0.0083	0.0015	0.0023	0.0040	0	0.0039	0.0007	0.0085	0.0068	0.0016	0.0050	0.0051	0.0054	0.0046	0.0084	0.0047	0.0046	0.0078	0.0076	0.0015	0	0.0031	0.0043	0	0.0052	0	0.0084	0.0052	0.0014	0.389	0.10874	T	0.021	0.58089	D	0.002	0.09854	B	0.007	0.12992	B	0.404301	0.13082	N	0.690860	1	0.08975	N	-1.04	0.01097	N	0.88	0.46028	T	0.27	0.04306	N	0.071	0.04426	-1.0405	0.17162	T	0.030	0.12935	T	10	0.0028273463	0.00045	T	.	.	.	0.051	0.14325	.	.	0.322510055762	0.31862	0.03691003545683327	0.03638	.	.	0.265804558992	0.05601	T	0.003559	0.02970	T	-0.622969	0.00105	T	-0.660522	0.08231	T	0.000451149537458513	0.00004	T	0.265873	0.04359	T	0.02644348	0.01702	0.0566479	0.10158	0.02644348	0.01702	0.0566479	0.10158	-2.197	0.04026	T	.	.	0.082	0.08705	B	.	.	0.617120	0.09856	6.618	0.66980803580355464	0.08219	0.12924	0.17561	N	AEFDGBCI	0.053107	0.09541	N	-1.02140638570243	0.08160	0.3816484	-0.942542186541089	0.11097	0.5632332	0.998349421353744	0.36796	0.460665	0.09802	0	0.588066	0.40923	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.74	3.82	0.43153	1.232000	0.32238	3.468000	0.38561	-0.168000	0.11412	0.003000	0.16062	0.998000	0.33993	0.002000	0.04165	0.1684:0.0:0.8316:0.0	9.618	0.38868	221	0.91431	.	PLA2G4B|RP11-380D11.2	Skin_Not_Sun_Exposed_Suprapubic|Testis	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002018	0.000000	0.004087	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	495.43	34	chr15	41853706	.	G	A	495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.136;DP=359;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.317;SOR=0.748	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1060	9	0	1	0
chr15	41882418	41882418	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon11:c.C2098T:p.R700W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0458105007153	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	7.183e-07	1.026e-05	0	1.454e-06	.	0	0	.	.	0	0	3.964e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.001	0.83351	D	0.999	0.77913	D	0.91	0.64641	D	0.524505	0.11705	N	0.733081	1	0.08975	N	2.175	0.60977	M	0.74	0.50459	T	-3.79	0.71639	D	0.193	0.21188	-0.8998	0.48014	T	0.209	0.56866	T	10	0.3509623	0.51956	T	0.045811	0.62162	D	0.045	0.12272	0.504	0.59770	0.806502677479	0.80468	0.20518899188673997	0.20435	.	.	0.473355740309	0.35142	T	0.191301	0.54610	T	-0.175177	0.24456	T	-0.489406	0.23455	T	0.94912576675415	0.63045	D	0.615438	0.23533	T	0.1280738	0.29952	0.15812671	0.36942	0.1280738	0.29952	0.15812671	0.36941	-7.029	0.54245	T	.	.	0.104	0.18828	B	.	.	3.458699	0.48198	22.6	0.99872992546053507	0.95076	0.03108	0.08043	N	AEFDBI	0.123327	0.23888	N	-0.180453602414217	0.33949	1.932	-0.395543746801545	0.25129	1.380138	0.999942246540877	0.47345	0.580535	0.33130	0	0.657636	0.61667	0	0.503968	0.08637	0	0.604944	0.38103	0	.	.	4.73	-0.213	0.12517	-0.025000	0.12361	0.338000	0.17353	0.614000	0.49286	0.000000	0.06391	0.000000	0.08366	0.307000	0.24666	0.086:0.0:0.4014:0.5127	8.033	0.29634	199	0.92292	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	774.43	35	chr15	41882418	.	G	A	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=426;ExcessHet=0;FS=2.705;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=-2.055;SOR=0.544	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1190	9	0	1	0
chr15	42147155	42147155	C	A	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon13:c.G1388T:p.G463V	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0145425674118	.	.	8.327e-06	0	0	0	0	1.515e-05	0	0	1.29e-05	2	154602	rs375956650	1.233e-05	1.437e-05	6.814e-06	1.789e-05	0.0005	7.7e-06	6.36e-06	0.0001	7.697e-05	0	0	0	0	0	0.0005	1.169e-05	3.313e-05	0	6.57e-06	6.562e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.008	0.67890	D	1.0	0.90584	D	0.997	0.86255	D	0.000104	0.50451	D	0.082401	1	0.81001	D	3.87	0.95912	H	.	.	.	.	.	.	0.906	0.90704	-0.9339	0.43560	T	0.111	0.39864	T	10	0.97825557	0.97694	D	0.014543	0.34724	T	0.361	0.68141	0.878	0.96734	0.713728962764	0.71122	0.8565723763018895	0.85620	.	.	0.437563478947	0.30244	T	0.196386	0.55276	T	0.218989	0.75679	D	0.0767863	0.75362	D	0.980145335197449	0.73202	D	0.90031	0.65351	D	0.76912725	0.81996	0.666433	0.80440	0.76912725	0.81997	0.666433	0.80441	-12.302	0.86291	D	.	.	0.601	0.68921	P	.	.	3.622086	0.51264	23.1	0.99654598391592752	0.77505	0.92303	0.55401	D	AEFDBI	0.537188	0.55509	D	0.326023380282053	0.57488	3.916282	0.192157656119835	0.49416	3.14508	0.999657012450967	0.41424	0.497415	0.19182	0	0.547309	0.14657	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.11	3.1	0.34780	3.507000	0.53128	2.541000	0.33216	-0.187000	0.09635	0.996000	0.39380	1.000000	0.68203	0.182000	0.21359	0.0:0.7893:0.1354:0.0753	10.278	0.42701	243	0.90483	Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1212.43	40	chr15	42147155	.	C	A	1212.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.465;DP=451;ExcessHet=0;FS=1.401;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=-0.243;SOR=0.759	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1222	9	0	1	0
chr15	42218369	42218369	C	T	exonic	TMEM87A	.	nonsynonymous SNV	TMEM87A:NM_001286487:exon17:c.G1366A:p.D456N,TMEM87A:NM_015497:exon18:c.G1549A:p.D517N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.0102935696964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.48186	D	0.042	0.52060	D	0.041	0.21357	B	0.017	0.18140	B	0.000001	0.84330	N	0.052730	1	0.81001	D	2.225	0.63025	M	.	.	.	-3.9	0.73267	D	0.775	0.77507	-0.6731	0.61688	T	0.283	0.65468	T	9	0.69310826	0.71977	D	0.010294	0.26654	T	0.437	0.74164	0.648	0.78542	0.134007934775	0.12933	0.4968196346748368	0.49602	0.835255353543	0.67791	0.710123360157	0.68612	T	0.328765	0.69914	T	-0.0625297	0.42509	T	-0.327596	0.41736	T	0.981775403022766	0.74104	D	0.970103	0.92442	D	0.45024827	0.64056	0.3752358	0.62672	0.45024827	0.64057	0.3752358	0.62672	-11.16	0.81336	D	.	.	0.604	0.69024	P	.;.	.;.	4.886262	0.80184	27.3	0.99851069333782583	0.93013	0.99255	0.93517	D	AEFBI	0.837128	0.75480	D	0.252868801347815	0.53780	3.545577	0.422862688921768	0.62994	4.524449	0.999999999999944	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.56	5.56	0.83678	7.446000	0.79666	7.567000	0.60617	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.700	0.96042	390	0.83257	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	806.43	33	chr15	42218369	.	C	T	806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.803;DP=389;ExcessHet=0;FS=1.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.208;SOR=0.446	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	9	0	1	0
chr15	42417393	42417393	G	C	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.743e-06	0.0001	0	5.513e-06	3.606e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.606e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	444.47	69	chr15	42417393	.	G	C	444.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.36;DP=504;ExcessHet=1.5895;FS=199.83;InbreedingCoeff=-0.3005;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.27;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,7:57:50:0|1:42417393_G_C:50,0,1667:42417393	7	0	2	1
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	444.47	69	chr15	42417393	.	G	A	444.47	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.36;DP=504;ExcessHet=1.5895;FS=199.83;InbreedingCoeff=-0.3005;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.27;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:50,0:57:50:0|1:42417393_G_C:50,200,1887:42417393	7	0	2	1
chr15	42528287	42528287	G	T	exonic	SNAP23	.	nonsynonymous SNV	SNAP23:NM_003825:exon6:c.G292T:p.A98S	.	436	1083	2	1	0	4	0.00184332	.	.	.	2380339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00161923234541	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs756726088	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0003	1.048e-05	8.75e-06	6.092e-05	2.521e-05	0	0	0	0	1.872e-05	0.0003	1.349e-05	6.623e-05	1.159e-05	1.314e-05	1.313e-05	2.571e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.576	0.08335	T	0.7	0.09425	T	0.005	0.12996	B	0.009	0.14300	B	0.011223	0.29610	N	0.385948	1	0.81001	D	1.875	0.49914	L	.	.	.	0.06	0.08187	N	0.099	0.08088	-1.0516	0.13954	T	0.116	0.41008	T	9	0.10402143	0.19156	T	0.001619	0.02625	T	0.030	0.07022	0.36	0.36385	0.346148929819	0.34228	0.2262435677907953	0.22539	0.260338649392	0.28604	0.437899380922	0.30291	T	0.015204	0.51207	T	-0.219024	0.18126	T	-0.444732	0.28280	T	0.0788072049617767	0.09833	T	0.677432	0.28627	T	0.023712277	0.01135	0.030845834	0.01592	0.023712277	0.01135	0.030845834	0.01592	-3.656	0.18671	T	.	.	0.081	0.11366	B	.;.;.;.	.;.;.;.	2.269737	0.29014	17.98	0.92240614777962193	0.21618	0.86256	0.45501	D	AEFBI	0.269301	0.38561	N	-0.347120504837264	0.27378	1.501622	-0.181678069555036	0.32209	1.830287	0.932161491579934	0.27077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.83	3.52	0.39415	1.155000	0.31311	5.094000	0.47379	0.656000	0.54149	0.998000	0.41325	1.000000	0.68203	0.700000	0.34141	0.2043:0.0:0.6468:0.1489	5.289	0.15028	92	0.96160	SNAP-25;SNAP-25;SNAP-25;SNAP-25	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	722.43	62	chr15	42528287	.	G	T	722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.016;DP=496;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.777;SOR=0.583	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1163	9	0	1	0
chr15	42665789	42665789	A	T	exonic	STARD9	.	nonsynonymous SNV	STARD9:NM_020759:exon15:c.A1258T:p.N420Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.0769554332333	.	.	5.707e-05	0	0.0033	0	0	0	0	0	6.5e-06	1	154602	rs768029936	2.166e-06	2.052e-06	0	4.39e-06	0.0002	5.8e-07	1.6e-07	4.19e-06	1.57e-06	0	0	0	0	0	0.0002	0	0	2.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994628	0.23478	N	2.215	0.62545	M	-0.24	0.66834	T	-3.48	0.67941	D	0.362	0.40364	-0.7021	0.60338	T	0.295	0.66669	T	7	0.057678103	0.06661	T	0.076955	0.72654	D	0.256	0.56694	0.433	0.48336	0.521970134296	0.51842	0.20311975624828327	0.20228	.	.	0.507926106453	0.39932	T	0.175862	0.52560	T	-0.0616613	0.42647	T	-0.19857	0.54781	T	0.733546766090785	0.42394	D	0.682032	0.29067	T	0.29605818	0.52549	0.2773284	0.53684	0.29605818	0.52549	0.2773284	0.53683	-6.444	0.49852	T	.	.	0.186	0.40279	B	.	.	2.957369	0.39377	20.9	0.97750694092122392	0.35745	0.98281	0.81223	D	AEFBI	0.515089	0.54219	D	0.15164105728818	0.48891	3.095732	0.169183970708525	0.48168	3.036371	0.957452437584965	0.28305	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.8	4.66	0.57857	5.047000	0.64042	7.988000	0.76101	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.9203:0.0:0.0797:0.0	10.385	0.43319	92	0.96160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	34	chr15	42665789	.	A	T	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.114;DP=385;ExcessHet=0;FS=1.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-0.575;SOR=0.483	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	9	0	1	0
chr15	42685420	42685437	TCCAACCCCATTGTGAGC	-	exonic	STARD9	.	nonframeshift deletion	STARD9:NM_020759:exon23:c.3842_3859del:p.L1299_E1304del	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0033	0	0	0.0003	0	0.0005	3.84e-05	1	26028	rs762481813	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	3.176e-05	0.0006	3.978e-05	8.404e-05	0.0001	0	0.0002	0.0004	0.0002	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0005	0.0005	4.853e-05	0	0.0003	0	0.0008	0	0.0034	0.0007	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4753.39	289	chr15	42685419	.	TTCCAACCCCATTGTGAGC	T	4753.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=2437;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=2.47;SOR=0.636	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1081	9	0	1	0
chr15	43021291	43021291	A	G	exonic	UBR1	.	nonsynonymous SNV	UBR1:NM_174916:exon27:c.T2924C:p.I975T	Johanson-Blizzard syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.352	0.0568671016026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287101894	1.386e-06	1.508e-05	0	2.783e-06	2.329e-05	2.3e-07	9e-08	3.87e-06	1.45e-06	0	0	0	0	0	0	0	0	2.329e-05	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.003	0.76473	D	0.877	0.48223	P	0.335	0.42239	B	0.000088	0.51296	D	0.168957	0.999825	0.81001	D	1.87	0.49600	L	0.39	0.57419	T	-3.24	0.65171	D	0.897	0.90251	-0.5780	0.65696	T	0.227	0.59208	T	10	0.901292	0.89490	D	0.056867	0.66759	D	0.352	0.67326	0.75	0.88071	0.700849342337	0.69825	0.45486979996443216	0.45404	0.331662542844	0.35236	0.694372951984	0.66333	T	0.758848	0.93451	D	0.0949073	0.63738	D	-0.00459463	0.70038	D	0.908208012580872	0.56272	D	0.962104	0.85685	D	0.3664358	0.58321	0.44078487	0.67385	0.3664358	0.58321	0.44078487	0.67385	-7.526	0.57793	D	0.803226725685942	0.87956	0.531	0.66670	A	.;.	.;.	3.868307	0.56145	23.7	0.99495853286271851	0.67744	0.99753	0.99211	D	AEFBI	0.836665	0.75439	D	0.56937207432988	0.71269	5.625336	0.579739048421578	0.73488	5.978799	0.999853971234939	0.44174	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	8.293000	0.89858	11.232000	0.90136	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.856	0.69969	15	0.98792	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	337.46	33	chr15	43021291	.	A	G	337.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.992;DP=879;ExcessHet=0.7463;FS=129.905;InbreedingCoeff=-0.177;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.541;SOR=10.272	GT:AD:DP:GQ:PL	0/0:101,25:126:54:0,54,1826	7	0	3	0
chr15	43191645	43191645	T	C	exonic	CCNDBP1	.	nonsynonymous SNV	CCNDBP1:NM_012142:exon8:c.T830C:p.I277T	.	431	1073	17	1	0	19	0.00877598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.485	0.0445118252133	0.0018	0.00119808	0.0021	0.0009	0.0029	0	0	0.0031	0.0056	0.0001	0.0020569	318	154602	rs78193368	0.0021	0.0021	0.0021	0.0021	0.0298	0.0020	0.0020	0.0261	0.0247	0.0007	0.0032	0.0205	0	0.0001	0.0298	0.0018	0.0031	0.0003	0.0024	0.0024	0.0024	0.0024	0.0048	0.0022	0.0021	0.0039	0.0036	0.0003	0	0.0048	0.0196	0.0002	9.418e-05	0.0408	0.0026	0.0057	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.77913	D	0.977	0.73820	D	0.000003	0.62929	D	0.061085	0.992255	0.41596	D	2.675	0.78361	M	0.68	0.51952	T	-2.92	0.61129	D	0.756	0.75466	-0.5084	0.68345	T	0.271	0.64266	T	10	0.012171805	0.00263	T	0.044512	0.61527	D	0.485	0.77399	.	.	0.787488330306	0.78551	0.56531860541395	0.56458	0.684711321429	0.60236	0.607470273972	0.53957	T	0.49721	0.81917	T	-0.0530098	0.43989	T	0.152032	0.80312	D	0.0233625366792587	0.01067	T	0.89611	0.63771	D	0.59699816	0.72529	0.42116138	0.66057	0.59699816	0.72530	0.42116138	0.66057	-8.395	0.63732	D	.	.	0.447	0.62063	A	.	.	4.573703	0.72187	25.8	0.9985489717374868	0.93368	0.97514	0.75245	D	AEFBI	0.680581	0.64423	D	0.698838947571908	0.79556	7.102656	0.681039188547899	0.80941	7.412114	0.999999949269164	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	5.996000	0.70309	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	13.334	0.59947	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017641	0.015152	0.024457	0.038235	0.000000	0.000000	0.000000	0.000000	0.05	837.43	35	chr15	43191645	.	T	C	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.718;DP=408;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.204;SOR=0.485	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1158	9	0	1	0
chr15	43203222	43203222	C	T	exonic	EPB42	.	nonsynonymous SNV	EPB42:NM_000119:exon11:c.G1762A:p.E588K,EPB42:NM_001114134:exon11:c.G1672A:p.E558K	Spherocytosis, type 5	.	.	.	.	.	.	.	.	.	.	703214	not_provided|Hereditary_spherocytosis_type_5	MedGen:C3661900|MONDO:MONDO:0012985,MedGen:C2675192,OMIM:612690,Orphanet:822	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	0.00733692983321	0.0025	0.000998403	0.0005	0.0054	8.639e-05	0.0001	0	4.495e-05	0	0	0.0004592	71	154602	rs75424023	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0002	0.0053	0.0050	0.0060	0.0002	0	7.557e-05	1.872e-05	0	4.227e-05	0.0002	5.797e-05	0.0012	0.0012	0.0013	0.0011	0.0041	0.0010	0.0010	0.0036	0.0034	0.0041	0	0.0002	0	0	0	0	7.354e-05	0.0014	0	0.08	0.33585	T	0.06	0.45744	T	0.676	0.42412	P	0.076	0.32546	B	0.041881	0.23902	N	0.476023	0.99938	0.21275	N	2.215	0.62545	M	1.31	0.35405	T	-2.79	0.59059	D	0.36	0.41459	-1.0545	0.13172	T	0.040	0.17191	T	10	0.0074884295	0.00170	T	0.007337	0.19469	T	0.024	0.04979	.	.	0.279370189704	0.27548	0.7350089276239322	0.73445	.	.	0.382435381413	0.22602	T	0.389626	0.75001	T	-0.481845	0.00721	T	-0.464098	0.26153	T	0.0100504414322711	0.00135	T	0.865813	0.56549	D	0.13628484	0.31599	0.16645329	0.38454	0.13628484	0.31599	0.16645329	0.38453	-5.408	0.40996	T	0.33819964212153153	0.43606	0.104	0.18663	B	.;.;.;.;.	.;.;.;.;.	1.788566	0.22740	15.74	0.99219969507383554	0.55870	0.04874	0.10615	N	AEFBCI	0.091686	0.18569	N	-0.544844751481857	0.20646	1.089876	-0.61093982256212	0.19212	1.029776	0.769757097374112	0.23652	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.94	1.97	0.25278	0.147000	0.16021	2.115000	0.30684	0.599000	0.40250	0.025000	0.20085	0.972000	0.29809	0.776000	0.36750	0.0:0.6224:0.182:0.1956	4.621	0.11837	17	0.98681	.;.;Transglutaminase, C-terminal;Transglutaminase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4268.14	172	chr15	43203222	.	C	T	4268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.98;DP=598;ExcessHet=0.2348;FS=4.348;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.367;SOR=0.505	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	8	0	2	0
chr15	43276517	43276517	T	C	exonic	TGM7	.	nonsynonymous SNV	TGM7:NM_052955:exon13:c.A2071G:p.N691D	.	427	1060	32	3	0	38	0.0176089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0110741932648	0.0013	0.000599042	0.0018	0.0003	0.0007	0	0	0.0013	0.0033	0.0070	0.0015912	246	154602	rs148274809	0.0012	0.0012	0.0009	0.0015	0.0074	0.0012	0.0011	0.0069	0.0067	0.0001	0.0006	0.0072	0	1.872e-05	0.0049	0.0007	0.0016	0.0074	0.0009	0.0009	0.0007	0.0012	0.0066	0.0008	0.0008	0.0048	0.0042	4.812e-05	0	0.0005	0.0075	0	0	0	0.0010	0.0024	0.0066	0.186	0.21467	T	0.79	0.04194	T	0.003	0.11197	B	0.007	0.12992	B	0.336328	0.14033	N	0.687321	0.950522	0.26502	N	0.94	0.23649	L	-0.19	0.65931	T	-0.05	0.07736	N	0.125	0.11769	-0.9927	0.31906	T	0.122	0.42441	T	10	0.008257538	0.00187	T	0.011074	0.28311	T	0.057	0.16321	.	.	0.504541157375	0.50091	0.20277597614394124	0.20194	0.125134286109	0.14108	0.292968094349	0.09356	T	0.002334	0.01729	T	-0.513387	0.00480	T	-0.505936	0.21734	T	0.00804675839246853	0.00095	T	0.50325	0.15827	T	0.06925533	0.15157	0.11332693	0.27349	0.06925533	0.15157	0.11332693	0.27348	-4.53	0.31279	T	.	.	0.066	0.02145	B	.	.	2.028569	0.25781	16.89	0.99122840336513984	0.53037	0.75492	0.36965	D	AEFGBI	0.186831	0.31413	N	-0.556584102761625	0.20277	1.067798	-0.392685172500893	0.25214	1.385265	0.996622662179455	0.34876	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.47	3.3	0.36912	1.317000	0.33237	0.629000	0.20209	0.609000	0.47794	0.957000	0.33433	0.428000	0.24841	0.993000	0.69303	0.0:0.0963:0.0:0.9037	8.539	0.32540	15	0.98792	Transglutaminase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.002717	0.005848	0.000000	0.025862	0.009146	0.007576	0.1	2844.14	106	chr15	43276517	.	T	C	2844.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.589;DP=487;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.227;SOR=0.686	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	8	0	2	0
chr15	43328770	43328770	A	G	exonic	LCMT2	.	nonsynonymous SNV	LCMT2:NM_014793:exon1:c.T1720C:p.W574R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.798	0.119139338333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.023	0.57104	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999987	0.81001	D	2.995	0.85803	M	-1.56	0.81815	D	-4.07	0.74661	D	0.74	0.74007	0.112	0.84384	D	0.639	0.87360	D	10	0.8170707	0.80937	D	0.119139	0.79936	D	0.798	0.93385	0.611	0.74418	0.811391519615	0.80961	0.8167274304381671	0.81628	0.888851575013	0.70127	0.669919312	0.62826	T	0.313041	0.68482	T	0.398537	0.89830	D	0.334695	0.89702	D	0.992910087108612	0.83527	D	0.381762	0.09261	T	0.7278842	0.79604	0.6344337	0.78663	0.7278842	0.79606	0.6344337	0.78663	-8.643	0.65372	D	.	.	0.965	0.88679	P	.	.	4.964063	0.82096	27.7	0.9957431335035144	0.72621	0.95960	0.66903	D	AEFBCI	0.739003	0.68370	D	0.630056224660624	0.75084	6.243875	0.629511176830476	0.77093	6.613429	0.999999998511047	0.74766	0.631515	0.41029	0	0.672317	0.65289	0	0.697927	0.64325	0	0.592323	0.36904	0	.	.	5.46	5.46	0.80021	5.499000	0.66654	11.235000	0.90242	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.494	0.60866	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3840.14	130	chr15	43328770	.	A	G	3840.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.08;DP=651;ExcessHet=0.2348;FS=2.607;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=1.79;SOR=0.637	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	8	0	2	0
chr15	43329505	43329505	A	G	exonic	LCMT2	.	nonsynonymous SNV	LCMT2:NM_014793:exon1:c.T985C:p.F329L	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00666505673288	0.0002	0.000199681	0.0013	0	0.0003	0	0	0.0002	0.0022	0.0082	0.001022	158	154602	rs200311619	0.0007	0.0007	0.0004	0.0010	0.0088	0.0007	0.0006	0.0083	0.0081	5.974e-05	2.236e-05	3.826e-05	0	0	0.0023	0.0002	0.0005	0.0088	0.0003	0.0003	0.0001	0.0005	0.0068	0.0002	0.0002	0.0050	0.0044	4.809e-05	0	0	0	0	0	0	0.0001	0	0.0068	0.837	0.02832	T	0.674	0.06225	T	0.008	0.14655	B	0.002	0.06944	B	0.053236	0.22826	N	0.480118	0.847887	0.35173	D	2.085	0.57729	M	2.39	0.15724	T	-0.49	0.15578	N	0.1	0.08227	-1.0591	0.11981	T	0.030	0.12979	T	10	0.0049446523	0.00106	T	0.006665	0.17585	T	0.058	0.16647	0.314	0.28935	0.128392430309	0.12331	0.27014594239361456	0.26927	0.178477909626	0.20085	0.357850790024	0.19072	T	0.010891	0.09781	T	-0.580809	0.00190	T	-0.601237	0.12707	T	0.037363487113471	0.03220	T	0.455254	0.13018	T	0.060068794	0.12282	0.07896276	0.17735	0.060068794	0.12282	0.07896276	0.17734	-1.727	0.02301	T	.	.	0.402	0.59705	A	.	.	1.314358	0.17179	13.01	0.4587139102664054	0.03632	0.54289	0.29579	D	AEFDGBCI	0.074165	0.14857	N	-0.513078896686496	0.21657	1.150925	-0.432315218927853	0.24054	1.315144	0.999999689524946	0.74766	0.542737	0.22433	0	0.516746	0.08562	0	0.685571	0.62057	0	0.665054	0.64577	0	.	.	5.39	4.24	0.49486	0.982000	0.29137	4.531000	0.43726	0.756000	0.94297	0.319000	0.25494	0.999000	0.35428	0.006000	0.07323	0.9084:0.0:0.0916:0.0	8.062	0.29799	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1654.43	35	chr15	43329505	.	A	G	1654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.508;DP=544;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.927;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1149	9	0	1	0
chr15	43364119	43364119	C	G	exonic	ZSCAN29	.	nonsynonymous SNV	ZSCAN29:NM_152455:exon4:c.G1486C:p.V496L,ZSCAN29:NM_001372080:exon5:c.G1486C:p.V496L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00435458648677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.082	0.41573	T	0.009	0.15093	B	0.007	0.12992	B	0.023755	0.26385	N	0.372393	1	0.81001	D	0	0.06538	N	3.23	0.06931	T	-0.59	0.17624	N	0.09	0.06854	-0.9786	0.35322	T	0.012	0.04510	T	10	0.0989033	0.17914	T	0.004355	0.10592	T	0.032	0.07718	0.388	0.40951	0.279776271856	0.27574	0.19200742655363365	0.19118	0.0932311091372	0.10534	0.385940551758	0.23096	T	0.009732	0.08837	T	-0.319924	0.06903	T	-0.697325	0.05973	T	0.229103990416856	0.21908	T	0.127587	0.00998	T	0.053890184	0.10264	0.057526	0.10473	0.053890184	0.10263	0.057526	0.10472	-5.565	0.42471	T	.	.	0.158	0.34884	B	.	.	2.016226	0.25620	16.83	0.97990208880054497	0.37393	0.95283	0.64121	D	AEFBI	0.131832	0.25091	N	-0.494217457936979	0.22269	1.187932	-0.304003348965497	0.27970	1.555863	0.999901417691008	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.22	3.31	0.37025	1.388000	0.34048	0.353000	0.17497	-0.176000	0.10722	0.987000	0.36337	0.991000	0.31484	0.893000	0.43066	0.0:0.7357:0.0:0.2643	7.307	0.25624	15	0.98792	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1699.43	33	chr15	43364119	.	C	G	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.466;DP=439;ExcessHet=0;FS=1.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-1.657;SOR=0.547	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	9	0	1	0
chr15	43469880	43469885	GGGATA	-	exonic	TP53BP1	.	nonframeshift deletion	TP53BP1:NM_001141979:exon11:c.1362_1367del:p.I455_P456del,TP53BP1:NM_001141980:exon11:c.1362_1367del:p.I455_P456del,TP53BP1:NM_005657:exon11:c.1347_1352del:p.I450_P451del	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00179712	0.0061	0.0016	0.0034	0	0.0041	0.0092	0.0067	0.0023	0.0010758	28	26028	rs540564502	0.0091	0.0091	0.0092	0.0089	0.0132	0.0089	0.0089	0.0108	0.0104	0.0016	0.0035	0.0015	5.039e-05	0.0064	0.0132	0.0107	0.0085	0.0023	0.0063	0.0063	0.0067	0.0059	0.0104	0.0060	0.0058	0.0098	0.0095	0.0021	0.0197	0.0031	0.0020	0	0.0054	0.0170	0.0104	0.0061	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1128.39	41	chr15	43469879	.	TGGGATA	T	1128.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.711;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=1.95;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1231	9	0	1	0
chr15	43599215	43599215	G	A	exonic	CKMT1B	.	nonsynonymous SNV	CKMT1B:NM_001375484:exon9:c.G1196A:p.R399H,CKMT1B:NM_020990:exon10:c.G1196A:p.R399H	.	419	1059	43	1	0	45	0.0208044	.	.	.	703223	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.141	.	0.0061	0.0117812	0.0067	0.0052	0.0031	0	0.0005	0.0059	0.0088	0.0195	0.0061836	956	154602	rs149544188	0.0070	0.0070	0.0065	0.0075	0.0190	0.0069	0.0068	0.0183	0.0180	0.0039	0.0029	0.0011	2.519e-05	0.0006	0.0106	0.0070	0.0065	0.0190	0.0059	0.0059	0.0058	0.0060	0.0219	0.0056	0.0054	0.0185	0.0172	0.0050	0.0154	0.0045	0.0017	0.0002	0.0003	0.0068	0.0071	0.0033	0.0219	0.011	0.55530	D	0.048	0.48594	D	.	.	.	.	.	.	0.000043	0.53742	D	0.156324	0.999779	0.81001	D	.	.	.	2.73	0.11839	T	-2.43	0.53258	N	0.456	0.49328	-1.0646	0.10642	T	0.028	0.11795	T	10	0.012996405	0.00277	T	.	.	.	0.141	0.37795	.	.	0.440077040801	0.43627	0.5025941048459912	0.50181	1.05160835918	0.76172	0.5574041605	0.46901	T	.	.	.	-0.426914	0.01548	T	-0.371073	0.36763	T	0.0285378306420102	0.01766	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.059779	0.84328	28.3	0.99341316789047662	0.60170	0.97026	0.72262	D	AEFGI	0.783221	0.71427	D	0.153610576451665	0.48984	3.103933	0.208122804756733	0.50297	3.223305	0.0384732486356425	0.14349	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.03	4.03	0.46115	2.516000	0.45181	10.006000	0.83069	0.616000	0.49467	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.682	0.77130	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.006793	0.020468	0.000000	0.008621	0.018293	0.034091	0.05	1880.43	38	chr15	43599215	.	G	A	1880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.049;DP=552;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.62;MQRankSum=-0.487;QD=11.83;ReadPosRankSum=-0.235;SOR=0.85	GT:AD:DP:GQ:PL	0/1:75,84:159:99:1892,0,1634	9	0	1	0
chr15	43600609	43600609	G	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.C4918T:p.L1640F	Deafness, autosomal recessive 16, Autosomal recessive	2	1497	23	0	0	23	0.00762347	.	.	YES	404821	Autosomal_recessive_nonsyndromic_hearing_loss_16|STRC-related_disorder|not_provided	MONDO:MONDO:0011364,MedGen:C1863561,OMIM:603720,Orphanet:90636|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.300	0.808498870046	.	0.000798722	0.0011	0.0003	0.0014	0	0	0.0017	0	0.0001	0.0009638	149	154602	rs2920791	0.0018	0.0040	0.0019	0.0018	0.0022	0.0018	0.0018	0.0021	0.0021	0.0003	0.0021	0	5.039e-05	0.0001	0.0003	0.0022	0.0017	0.0007	0.0017	0.0032	0.0020	0.0015	0.0034	0.0016	0.0015	0.0024	0.0023	0.0006	0.0033	0.0019	0	0.0002	9.457e-05	0	0.0027	0.0024	0.0034	0.079	0.33753	T	0.0	0.92824	D	0.946	0.53363	P	0.838	0.60045	P	0.004362	0.33816	N	0.117372	1	0.81001	D	.	.	.	-1.26	0.79176	T	-1.11	0.28703	N	0.299	0.38746	-0.0907	0.80312	T	0.479	0.80068	T	9	0.08820775	0.15166	T	0.808499	0.98506	D	0.300	0.62068	.	.	0.76847438456	0.76635	0.49283764366253	0.49204	.	.	0.574232280254	0.49274	T	0.187283	0.54084	T	-0.330416	0.06081	T	-0.25418	0.49404	T	0.0681458239434558	0.08389	T	0.610839	0.23175	T	0.06872743	0.14997	0.10154782	0.24314	0.0781299	0.17774	0.11947969	0.28838	-10.218	0.75206	D	0.7662668044665778	0.84763	0.625	0.69922	P	.;.	.;.	4.458066	0.69356	25.4	0.99831891262176153	0.91370	0.60594	0.31240	D	AEFBI	0.303605	0.41153	N	0.349410031656867	0.58709	4.044819	0.361867551766475	0.59225	4.098651	0.00106907004878462	0.08183	0.553676	0.25195	0	0.588015	0.36545	0	0.670488	0.60580	0	0.530356	0.10902	0	.	.	4.75	4.75	0.59954	2.790000	0.47512	11.787000	0.96267	-0.830000	0.02882	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:0.0:1.0:0.0	13.428	0.60486	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	365.43	33	chr15	43600609	.	G	A	365.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.21;DP=658;ExcessHet=0;FS=9.674;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.3;MQRankSum=-8.943;QD=3.21;ReadPosRankSum=-3.024;SOR=1.911	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,16:114:99:0|1:43600609_G_A:377,0,4067:43600609	9	0	1	0
chr15	43600624	43600624	C	A	exonic	STRC	.	nonsynonymous SNV	STRC:NM_153700:exon26:c.G4903T:p.V1635F	Deafness, autosomal recessive 16, Autosomal recessive	2	1494	26	0	0	26	0.00862641	.	.	.	230563	not_specified|STRC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.310	0.68426316111	0.0002	.	0.0011	0.0004	0.0003	0	0.0005	0.0009	0	0.0041	0.0011061	171	154602	rs2915791	0.0003	0.0035	0.0002	0.0003	0.0011	0.0002	0.0002	0.0010	0.0009	0.0003	4.478e-05	0.0001	0	0	0.0004	0.0002	0.0003	0.0011	0.0008	0.0022	0.0009	0.0007	0.0051	0.0007	0.0006	0.0035	0.0030	0.0006	0.0022	0.0002	0	0	0	0	0.0010	0.0009	0.0051	0.11	0.29158	T	0.023	0.57104	D	0.573	0.60036	P	0.165	0.57283	B	0.721024	0.09934	N	0.836584	1	0.81001	D	.	.	.	-1.05	0.76690	T	-0.58	0.17624	N	0.519	0.54932	-0.2102	0.77409	T	0.478	0.80002	T	9	0.11853805	0.22412	T	0.684263	0.97389	D	0.310	0.63162	.	.	0.753645140278	0.75141	0.6565447405899285	0.65590	.	.	0.43855664134	0.30380	T	0.064201	0.32372	T	0.0143853	0.53622	T	-0.217113	0.53014	T	0.281153917312622	0.24220	T	0.590441	0.21717	T	0.11808676	0.27828	0.096214235	0.22852	0.12998167	0.30342	0.11341362	0.27371	-8.815	0.66499	D	0.3956736979913532	0.48823	0.160	0.35288	B	.;.	.;.	3.234298	0.44118	21.9	0.98070163054786075	0.38023	0.85159	0.44268	D	AEFBI	0.398309	0.47404	N	0.105459158857106	0.46716	2.90786	0.133687704735429	0.46282	2.876808	0.00735261414150442	0.11446	0.553676	0.25195	0	0.588015	0.36545	0	0.54472	0.12158	0	0.530356	0.10902	0	.	.	4.75	3.83	0.43287	1.209000	0.31963	2.767000	0.34644	0.547000	0.25779	0.998000	0.41325	0.990000	0.31317	0.984000	0.60418	0.0:0.8996:0.0:0.1004	9.045	0.35505	10	0.99061	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	337.43	33	chr15	43600624	.	C	A	337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=663;ExcessHet=0;FS=2.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.61;MQRankSum=-8.524;QD=2.93;ReadPosRankSum=-0.482;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,16:115:99:0|1:43600609_G_A:349,0,4094:43600609	9	0	1	0
chr15	43635793	43635793	T	A	exonic	CATSPER2	.	nonsynonymous SNV	CATSPER2:NM_001282310:exon9:c.A1073T:p.N358I,CATSPER2:NM_172095:exon9:c.A1055T:p.N352I,CATSPER2:NM_001282309:exon10:c.A1055T:p.N352I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0175913253951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.035	0.52389	D	0.514	0.37393	P	0.059	0.34794	B	0.392562	0.04486	N	1.413170	1	0.23844	N	2.095	0.58118	M	-3.95	0.96175	D	-1.61	0.50992	N	0.45	0.48780	0.108	0.84315	D	0.750	0.91468	D	10	0.15335992	0.28950	T	0.017591	0.39349	T	0.251	0.56024	0.375	0.38830	0.283761946502	0.27984	0.4196428327976355	0.41880	0.317401076576	0.33983	0.380552947521	0.22334	T	0.272588	0.64498	T	0.0233645	0.54835	T	-0.204215	0.54247	T	0.148541099515817	0.16986	T	0.630137	0.24490	T	0.13822408	0.31975	0.11426631	0.27581	0.13822408	0.31975	0.11426631	0.27580	-6.948	0.53654	T	.	.	0.173	0.46049	B	.;.;.	.;.;.	0.539195	0.09077	5.861	0.94733763509061775	0.25418	0.03294	0.08346	N	AEFI	0.088410	0.17924	N	-0.970805442694501	0.09231	0.4360469	-1.06310522469492	0.08436	0.4147786	2.56815486645625E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.616125	0.45549	0	.	.	4.62	-2.51	0.05996	-0.437000	0.06984	-1.700000	0.04889	-0.274000	0.06627	0.008000	0.17931	0.000000	0.08366	0.271000	0.23793	0.0:0.4935:0.0:0.5065	9.467	0.37984	7	0.99271	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	673.43	36	chr15	43635793	.	T	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.208;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=1.35;QD=15.66;ReadPosRankSum=1.52;SOR=0.678	GT:AD:DP:GQ:PL	0/1:16,27:43:99:685,0,351	9	0	1	0
chr15	43851172	43851172	C	T	exonic	WDR76	.	nonsynonymous SNV	WDR76:NM_001167941:exon9:c.C926T:p.P309L,WDR76:NM_024908:exon9:c.C1118T:p.P373L	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.025517666769	0.0002	0.000199681	0.0004	0	0.0005	0	0	0.0001	0.0033	0.0016	0.0003363	52	154602	rs139113690	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0.0002	0.0003	0	2.519e-05	0	0.0028	0.0001	0.0004	0.0017	0.0001	0.0001	0.0001	0.0001	0.0014	8.165e-05	6.721e-05	0.0007	0.0005	0	0	0.0001	0	0	0	0	0.0001	0	0.0014	0.004	0.65419	D	0.005	0.72224	D	0.997	0.70673	D	0.96	0.70309	D	0.000767	0.41888	D	0.241820	0.999998	0.58761	D	2.285	0.65182	M	-0.2	0.66113	T	-4.68	0.79659	D	0.754	0.78641	-0.4950	0.68829	T	0.329	0.69682	T	10	0.25596753	0.42995	T	0.025518	0.48485	D	0.328	0.65026	.	.	0.747043374901	0.74476	0.6122725861697005	0.61159	0.467457784395	0.46126	0.529246330261	0.42928	T	0.210102	0.57050	T	-0.212469	0.19033	T	-0.102601	0.63196	T	0.221513524651527	0.21539	T	0.922708	0.71908	D	0.14033423	0.32382	0.1701998	0.39111	0.14033423	0.32382	0.1701998	0.39110	-10.416	0.76363	D	.	.	0.127	0.28203	B	.;.	.;.	4.919906	0.81018	27.5	0.99908562031365489	0.97875	0.85384	0.44511	D	AEFBIJ	0.221116	0.34578	N	0.65249761917559	0.76532	6.503687	0.677620802130479	0.80682	7.353625	0.783379331005341	0.23885	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	3.640000	0.54086	7.640000	0.63152	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.985000	0.61073	0.0:0.8428:0.1572:0.0	13.433	0.60518	6	0.99319	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.014620	0.050000	0.000000	0.003049	0.000000	0.05	1134.43	40	chr15	43851172	.	C	T	1134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=423;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=1.45;SOR=0.62	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1299	9	0	1	0
chr15	45061087	45061087	C	T	exonic	SORD	.	nonsynonymous SNV	SORD:NM_003104:exon4:c.C286T:p.P96S	.	431	1061	30	0	0	30	0.0139405	.	.	.	3539455	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.517	0.0733825270408	.	.	7.417e-05	0.0006	0	0	0	4.497e-05	0	0	3.84e-05	1	26028	rs367815523	0.0005	0.0049	0.0005	0.0005	0.0020	0.0004	0.0004	0.0011	0.0009	0.0010	0.0009	0.0002	0.0007	0.0002	0.0020	0.0004	0.0005	0.0006	0.0008	0.0047	0.0008	0.0007	0.0016	0.0006	0.0006	0.0012	0.0011	0.0016	0.0011	0.0003	0.0003	0.0010	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.009	0.67890	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.68	0.78455	M	3.44	0.05375	T	-7.84	0.96032	D	0.904	0.90476	-1.1546	0.00894	T	0.046	0.19800	T	10	0.69918245	0.72335	D	0.073383	0.71774	D	0.517	0.79400	.	.	0.485420873983	0.48173	0.9197059316775463	0.91946	0.907490128697	0.70902	0.666648447514	0.62360	T	0.265353	0.63721	T	0.113796	0.65744	D	-0.074317	0.65318	T	0.47631374001503	0.31762	T	0.982402	0.99990	D	0.94719636	0.95980	0.8657455	0.92572	0.94719636	0.95980	0.8657455	0.92573	-11.109	0.80252	D	.	.	0.940	0.85879	P	.;.	.;.	4.803971	0.78081	26.8	0.99918417027830564	0.98586	0.99309	0.94295	D	AEFGBI	0.944456	0.95155	D	0.571844831821852	0.71421	5.64843	0.512897990840352	0.68855	5.278264	0.99999999999784	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	7.830000	0.84907	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.303000	0.24570	0.0:1.0:0.0:0.0	15.778	0.78011	409	0.82198	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.015152	0.000000	0.017544	0.000000	0.008621	0.000000	0.000000	0.1	1356.14	41	chr15	45061087	.	C	T	1356.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.842;DP=710;ExcessHet=0.2348;FS=12.84;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.99;MQRankSum=-7.223;QD=3.89;ReadPosRankSum=-1.719;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,23:167:99:0|1:45061086_G_A:526,0,5935:45061086	8	0	2	0
chr15	45187888	45187888	C	T	exonic	SHF	.	nonsynonymous SNV	SHF:NM_001301168:exon1:c.G64A:p.G22R,SHF:NM_001301169:exon1:c.G64A:p.G22R,SHF:NM_001301170:exon1:c.G64A:p.G22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490909397921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.844617	0.81001	D	.	.	.	0.64	0.94904	T	-0.13	0.08971	N	0.188	0.23125	.	.	.	.	.	.	.	0.2567356	0.43081	T	0.490909	0.94997	D	.	.	.	.	0.898918641686	0.89791	.	.	.	.	.	.	.	0.043862	0.26635	T	0.0956241	0.63816	D	-0.100419	0.63365	T	.	.	.	0.647135	0.25820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.61602	A	.;.;.	.;.;.	2.725470	0.35659	19.96	0.99640485993422889	0.76633	0.09514	0.15253	N	AEFDBHCIJ	0.138574	0.25991	N	.	.	.	.	.	.	0.999999999735055	0.74766	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.554799	0.18163	0	.	.	2.85	2.85	0.32333	1.960000	0.40046	6.651000	0.56216	0.446000	0.21189	0.051000	0.21449	1.000000	0.68203	0.243000	0.23080	0.0:1.0:0.0:0.0	9.456	0.37918	616	0.66398	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	33.01	2	chr15	45187888	.	C	T	33.01	.	AC=2;AF=0.1;AN=20;DP=37;ExcessHet=0;FS=0;InbreedingCoeff=0.4979;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.51;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,41	9	1	0	0
chr15	45690983	45690983	G	A	exonic	SQOR	.	nonsynonymous SNV	SQOR:NM_021199:exon10:c.G1306A:p.G436R,SQOR:NM_001271213:exon11:c.G1306A:p.G436R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.0248532987108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.343	0.17857	T	0.599	0.39298	P	0.133	0.33073	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.21	0.37230	T	-1.64	0.39314	N	0.642	0.65587	-0.9431	0.42121	T	0.112	0.40145	T	10	0.59271455	0.66470	D	0.024853	0.47835	T	0.301	0.62179	0.777	0.90235	0.430808444494	0.42699	0.9138744494237139	0.91362	0.377217779885	0.39159	0.598961949348	0.52757	T	0.147863	0.48615	T	0.242441	0.77892	D	0.110473	0.77605	D	0.894370079040527	0.54574	D	0.963304	0.86380	D	0.5792838	0.71569	0.43236914	0.66825	0.5792838	0.71570	0.43236914	0.66825	-3.148	0.11855	T	.	.	0.318	0.54876	B	.;.	.;.	3.790633	0.54561	23.5	0.99805217725303152	0.88995	0.99170	0.92261	D	AEFDBIJ	0.940090	0.94158	D	0.483111622167409	0.66104	4.907173	0.572869370219555	0.73002	5.899665	0.999999999999994	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	8.478000	0.90271	6.671000	0.56279	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	18.135	0.89547	338	0.86082	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	764.43	35	chr15	45690983	.	G	A	764.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=383;ExcessHet=0;FS=6.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.64;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr15	48227171	48227171	G	A	exonic	SLC12A1	.	nonsynonymous SNV	SLC12A1:NM_001184832:exon5:c.G721A:p.G241R	Bartter syndrome, type 1, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.961	0.456431658102	.	.	0.0004	0	0	0	0	9.99e-05	0	0.0010	5.82e-05	9	154602	rs758055353	4.168e-05	4.105e-05	2.696e-05	5.677e-05	0.0012	3.27e-05	2.99e-05	0.0006	0.0004	0	0	3.976e-05	0	0	0.0012	9.332e-06	8.636e-05	0.0004	1.971e-05	1.97e-05	2.57e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-5.19	0.98838	D	-6.11	0.90023	D	0.961	0.97095	1.042	0.97959	D	0.983	0.99495	D	10	0.90726304	0.90091	D	0.456432	0.94435	D	0.961	0.99405	0.762	0.89053	0.99167746351	0.99159	.	.	0.686208846331	0.60320	0.882082104683	0.94240	D	.	.	.	0.311419	0.83850	D	0.554493	0.95764	D	0.73804247379303	0.42632	D	0.975102	0.91204	D	.	.	.	.	.	.	.	.	-13.846	0.92546	D	.	.	0.986	0.92454	P	.;.	.;.	4.205822	0.63499	24.6	0.99941032274401731	0.99797	0.99707	0.98841	D	AEFBI	0.915550	0.88049	D	1.12684913061899	0.98601	18.75929	1.04526638909803	0.99327	21.93895	0.999999997033295	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	9.006000	0.93125	11.914000	0.99653	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	20.347	0.98800	793	0.45818	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2355.43	35	chr15	48227171	.	G	A	2355.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.013;DP=461;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-2.048;SOR=0.773	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1250	9	0	1	0
chr15	48497353	48497353	T	C	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon19:c.A2206G:p.N736D	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	242076	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Progeroid_and_marfanoid_aspect-lipodystrophy_syndrome|Ectopia_lentis_1,_isolated,_autosomal_dominant|MASS_syndrome|Weill-Marchesani_syndrome_2,_dominant|Geleophysic_dysplasia_2|Marfan_syndrome|Stiff_skin_syndrome|Acromicric_dysplasia	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0014831,MedGen:C4310796,OMIM:616914,Orphanet:300382|MONDO:MONDO:0007514,MedGen:C3541518,OMIM:129600,Orphanet:1885|MONDO:MONDO:0011431,MedGen:C1858556,OMIM:604308,Orphanet:99715|MONDO:MONDO:0012013,MedGen:C1869115,OMIM:608328,Orphanet:2084|MONDO:MONDO:0013612,MedGen:C3280054,OMIM:614185,Orphanet:2623|MONDO:MONDO:0007947,MedGen:C0024796,OMIM:154700,Orphanet:284963,Orphanet:558|MONDO:MONDO:0008492,MedGen:C1861456,OMIM:184900,Orphanet:2833|MONDO:MONDO:0007055,MedGen:C0265287,OMIM:102370,Orphanet:969	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.787	0.32581897124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878853678	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	.	.	.	.	.	.	0.000043	0.53742	D	0.190728	0.999768	0.48888	D	.	.	.	-3.0	0.92158	D	-4.69	0.79743	D	0.746	0.74553	0.612	0.92062	D	0.785	0.92719	D	10	0.84849024	0.84020	D	0.325819	0.91609	D	0.787	0.92948	0.622	0.75690	0.897695113205	0.89668	.	.	2.33439091465	0.96697	0.644448161125	0.59196	T	.	.	.	0.0517595	0.58570	T	-0.0665734	0.65870	T	0.987627387046814	0.78084	D	0.814619	0.46840	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.53024	B	.	.	4.905423	0.80657	27.4	0.99807831408837178	0.89174	0.98079	0.79420	D	AEFBI	0.943793	0.95008	D	0.580494104646523	0.71958	5.730784	0.585818692397615	0.73923	6.050407	0.999998405471063	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.92	4.79	0.60909	7.674000	0.83146	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1424:0.8576	12.250	0.53906	470	0.78111	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	500.43	38	chr15	48497353	.	T	C	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=391;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-0.644;SOR=0.925	GT:AD:DP:GQ:PL	0/1:47,23:70:99:512,0,1154	9	0	1	0
chr15	48748599	48748599	C	A	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_001194998:exon22:c.G3478T:p.V1160F	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0101119350392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.509e-07	1.368e-06	0	1.529e-06	9.479e-07	0	0	.	.	0	0	0	0	0	0	9.479e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.41096	T	0.623	0.07368	T	0.091	0.25247	B	0.021	0.19346	B	0.646690	0.10550	N	0.848589	1	0.18198	N	0.895	0.22405	L	0.64	0.52867	T	-0.61	0.18042	N	0.264	0.29889	-1.0183	0.24269	T	0.054	0.22883	T	10	0.04692051	0.03944	T	0.010112	0.26258	T	0.024	0.04979	0.234	0.16305	0.390060412749	0.38622	0.08714853187139297	0.08647	0.0819487672985	0.09232	0.376524806023	0.21763	T	0.003594	0.03000	T	-0.224472	0.17386	T	-0.560215	0.16357	T	0.0327178463339806	0.02425	T	0.589041	0.21605	T	0.06872375	0.14997	0.06911195	0.14521	0.06872375	0.14997	0.06911195	0.14521	-4.783	0.35031	T	0.09612726283683803	0.06619	0.086	0.10545	B	.;.	.;.	1.887381	0.23973	16.22	0.83537516548797763	0.14780	0.07638	0.13646	N	AEFGBI	0.077008	0.15505	N	-0.908672374004721	0.10638	0.5093274	-0.773078385314749	0.15157	0.796	0.994033935667338	0.33459	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	0.533	0.16315	-0.027000	0.12319	0.205000	0.15895	-0.117000	0.14459	0.010000	0.18352	0.001000	0.17328	0.998000	0.85391	0.0:0.2741:0.1257:0.6003	6.201	0.19789	258	0.89879	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	562.43	33	chr15	48748599	.	C	A	562.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.34;DP=348;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=1.93;SOR=0.446	GT:AD:DP:GQ:PL	0/0:28,0:28:63:0,63,945	9	0	1	0
chr15	49037631	49037631	T	C	exonic	SECISBP2L	.	nonsynonymous SNV	SECISBP2L:NM_001193489:exon2:c.A163G:p.I55V,SECISBP2L:NM_014701:exon2:c.A163G:p.I55V	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	.	0.0002	0.00259585	0.0012	9.66e-05	0.0004	0	0	0.0004	0.0011	0.0070	0.0010931	169	154602	rs150653088	0.0007	0.0007	0.0005	0.0009	0.0082	0.0007	0.0007	0.0077	0.0075	2.988e-05	0.0003	0.0035	0	0	0.0023	0.0001	0.0009	0.0082	0.0005	0.0005	0.0004	0.0006	0.0091	0.0004	0.0004	0.0070	0.0062	0	0	0.0001	0.0055	0	0	0	0.0002	0	0.0091	0.011	0.91255	D	0.589	0.92824	T	0.985	0.64070	D	0.952	0.74104	D	0.000000	0.84330	D	0.000000	0.999802	0.49283	D	1.955	0.52871	M	-0.99	0.76690	T	0.12	0.20145	N	0.652	0.66272	-0.2008	0.77651	T	0.481	0.80175	T	10	0.009497613	0.00214	T	.	.	.	0.321	0.64318	.	.	0.771572928667	0.76947	0.22447663390087713	0.22362	0.412230636246	0.41969	0.765780806541	0.76791	T	0.053463	0.39499	T	-0.221795	0.17750	T	-0.0869445	0.64391	T	0.0496241258827172	0.05434	T	0.950705	0.81134	D	0.15977032	0.35872	0.14038622	0.33465	0.15977032	0.35872	0.14038622	0.33464	-2.227	0.04280	T	.	.	0.276	0.75343	B	.;.;.	.;.;.	3.455610	0.48139	22.6	0.9991694438980665	0.98449	0.97645	0.76123	D	AEFDGBI	0.894490	0.83351	D	0.568544567222546	0.71218	5.617583	0.60006815488969	0.74946	6.224273	0.999999999998368	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.658983	0.55881	0	0.677812	0.66336	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	6.148000	0.54152	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.360	0.74179	470	0.78111	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	480.43	35	chr15	49037631	.	T	C	480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.169;DP=384;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.43;SOR=0.824	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1027	9	0	1	0
chr15	49292454	49292454	A	G	exonic	GALK2	.	nonsynonymous SNV	GALK2:NM_001001556:exon8:c.A851G:p.Y284C,GALK2:NM_001289031:exon8:c.A812G:p.Y271C,GALK2:NM_002044:exon8:c.A884G:p.Y295C,GALK2:NM_001289030:exon9:c.A812G:p.Y271C,GALK2:NM_001352047:exon9:c.A497G:p.Y166C,GALK2:NM_001352048:exon9:c.A497G:p.Y166C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.595862871601	7.7e-05	.	8.249e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs371808630	1.231e-05	1.231e-05	1.089e-05	1.375e-05	2.988e-05	7.7e-06	6.35e-06	8.52e-06	6.89e-06	2.988e-05	0	0	0	0	0	1.439e-05	0	1.159e-05	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.94	0.96382	H	-2.38	0.88455	D	-8.99	0.98054	D	0.877	0.88027	0.987	0.96965	D	0.871	0.95701	D	10	0.96387285	0.95835	D	0.595863	0.96426	D	0.789	0.93028	.	.	0.970858928983	0.97054	0.7260136465993959	0.72545	0.311513822233	0.33456	0.518230557442	0.41377	T	0.567667	0.85633	D	0.408311	0.90385	D	0.36422	0.90862	D	0.99952232837677	0.97759	D	0.982502	0.94093	D	0.89739376	0.91151	0.7776711	0.86886	0.89739376	0.91152	0.7776711	0.86887	-10.796	0.79866	D	.	.	0.296	0.53261	B	.;.;.;.;.	.;.;.;.;.	4.771841	0.77261	26.7	0.99767866393083859	0.85666	0.99121	0.91534	D	AEFBI	.	.	.	0.864239819162334	0.89903	10.16721	0.756891099945002	0.86669	8.964583	0.999999999965128	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	8.797000	0.91506	9.317000	0.80010	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	1.0:0.0:0.0:0.0	15.526	0.75641	426	0.81110	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2151.43	35	chr15	49292454	.	A	G	2151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=511;ExcessHet=0;FS=1.751;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=1.19;SOR=0.573	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1144	9	0	1	0
chr15	49508322	49508322	T	C	exonic	FAM227B	.	nonsynonymous SNV	FAM227B:NM_001330293:exon10:c.A799G:p.I267V,FAM227B:NM_152647:exon11:c.A901G:p.I301V	.	443	1077	1	1	0	3	0.00139082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00160615039508	7.7e-05	0.000399361	0.0004	0	0	0	0	9.013e-05	0.0011	0.0024	0.0003234	50	154602	rs374653018	0.0002	0.0002	8.502e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0.0004	1.353e-05	0.0002	0.0027	9.193e-05	9.186e-05	0.0001	8.057e-05	0.0021	5.524e-05	4.362e-05	0.0011	0.0009	0	0	0	0	0	0	0	5.882e-05	0	0.0021	0.238	0.19927	T	0.094	0.40267	T	0.002	0.09854	B	0.001	0.04355	B	0.266999	0.03747	N	1.582980	1	0.08975	N	0	0.06538	N	.	.	.	0.31	0.04022	N	0.146	0.20262	-1.0444	0.16000	T	0.082	0.32237	T	9	0.0064932704	0.00147	T	0.001606	0.02574	T	0.026	0.05648	.	.	0.0138822411134	0.00435	0.1726369379961652	0.17183	0.0359130976242	0.03790	0.357009142637	0.18949	T	0.015194	0.12791	T	-0.641865	0.00081	T	-0.699698	0.05842	T	0.0135602873197731	0.00250	T	0.362864	0.08399	T	0.03834151	0.05089	0.05182665	0.08418	0.03834151	0.05089	0.05182665	0.08417	-3.572	0.19791	T	.	.	0.085	0.09965	B	.;.	.;.	1.861075	0.23640	16.10	0.96418287551075077	0.29747	0.10806	0.16205	N	AEFI	0.061696	0.11813	N	-0.789687944992597	0.13578	0.6699069	-0.69237384908206	0.17151	0.9106774	1.06808841709094E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.86	1.53	0.22224	0.138000	0.15838	0.181000	0.15632	0.665000	0.62972	0.302000	0.25342	0.040000	0.21562	0.888000	0.42677	0.0:0.2468:0.0:0.7532	5.223	0.14701	297	0.88113	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	767.43	41	chr15	49508322	.	T	C	767.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=373;ExcessHet=0;FS=7.06;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=-0.037;SOR=1.591	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	9	0	1	0
chr15	49897369	49897369	A	G	exonic	ATP8B4	.	nonsynonymous SNV	ATP8B4:NM_024837:exon23:c.T2620C:p.C874R	.	434	1062	26	0	0	26	0.012093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	0.0063	0.00459265	0.0057	0.0107	0.0036	0	0.0009	0.0048	0.0066	0.0123	0.0053233	823	154602	rs74012834	0.0051	0.0051	0.0048	0.0053	0.0172	0.0050	0.0049	0.0144	0.0134	0.0113	0.0033	0.0141	2.519e-05	0.0011	0.0172	0.0044	0.0066	0.0126	0.0062	0.0062	0.0063	0.0061	0.0122	0.0058	0.0057	0.0098	0.0095	0.0107	0.0033	0.0033	0.0173	0	0.0006	0.0204	0.0044	0.0057	0.0122	0.743	0.03663	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.002321	0.36806	N	0.297818	0.999992	0.58761	D	-0.24	0.03895	N	-0.46	0.70014	T	-2.3	0.51157	N	0.494	0.54147	-1.0498	0.14453	T	0.093	0.35498	T	10	0.0073461235	0.00167	T	.	.	.	0.251	0.56024	.	.	0.474876406573	0.47116	0.7498061658044117	0.74927	0.0839836201128	0.09469	0.611285686493	0.54498	T	0.002077	0.01480	T	-0.441836	0.01261	T	-0.397056	0.33727	T	0.00396578209425917	0.00042	T	0.541546	0.18382	T	0.32305837	0.54897	0.31807154	0.57777	0.32305837	0.54897	0.31807154	0.57776	-4.519	0.31136	T	.	.	0.160	0.37024	B	.;.	.;.	1.190218	0.15813	12.12	0.54972148563145007	0.05246	0.18959	0.20471	N	AEFGI	0.226863	0.35075	N	-0.800004472418187	0.13311	0.6547919	-0.688715170324367	0.17242	0.9159305	0.997071151456392	0.35252	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.6	0.616	0.16789	0.137000	0.15816	1.461000	0.26681	0.756000	0.94297	0.005000	0.17040	0.877000	0.27660	0.997000	0.79791	0.6935:0.0:0.3065:0.0	8.820	0.34182	386	0.83455	P-type ATPase, C-terminal;P-type ATPase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.050505	0.020380	0.040936	0.000000	0.000000	0.006098	0.007576	0.05	672.43	33	chr15	49897369	.	A	G	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.162;DP=380;ExcessHet=0;FS=2.015;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-1.292;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1055	9	0	1	0
chr15	50499077	50499088	GTAGCCACATAA	-	exonic	USP8	.	nonframeshift deletion	USP8:NM_001283049:exon17:c.3028_3039del:p.V1010_T1012delinsGDIGYKLVIF,USP8:NM_001128610:exon20:c.3346_3357del:p.V1116_T1118delinsGDIGYKLVIF,USP8:NM_005154:exon20:c.3346_3357del:p.V1116_T1118delinsGDIGYKLVIF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2185.39	33	chr15	50499076	.	TGTAGCCACATAA	T	2185.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.422;DP=442;ExcessHet=0;FS=4.61;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.52;MQRankSum=-0.026;QD=19;ReadPosRankSum=-2.91;SOR=1.152	GT:AD:DP:GQ:PL	0/1:58,57:115:99:2197,0,2242	9	0	1	0
chr15	50749712	50749712	C	T	exonic	SPPL2A	.	nonsynonymous SNV	SPPL2A:NM_032802:exon2:c.G101A:p.G34E	.	431	1068	22	1	0	24	0.0111111	.	.	.	1157483	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.028	0.00587756568224	0.0011	0.00259585	0.0019	9.612e-05	0.0015	0	0.0002	0.0016	0.0011	0.0064	0.0017788	275	154602	rs145832874	0.0014	0.0014	0.0011	0.0016	0.0067	0.0013	0.0013	0.0062	0.0061	5.977e-05	0.0011	0.0093	0	0.0003	0.0054	0.0009	0.0019	0.0067	0.0015	0.0015	0.0015	0.0015	0.0093	0.0013	0.0013	0.0072	0.0064	0.0003	0	0.0025	0.0104	0	0	0.0034	0.0013	0.0014	0.0093	0.06	0.37326	T	0.116	0.36497	T	0.02	0.18235	B	0.015	0.17295	B	0.001238	0.39743	N	0.291695	0.522116	0.31560	N	1.095	0.27400	L	2.82	0.10871	T	-1.52	0.36980	N	0.39	0.43126	-1.0953	0.04709	T	0.016	0.06377	T	10	0.005771637	0.00129	T	0.005878	0.15310	T	0.028	0.06331	.	.	0.180583059064	0.17676	0.6065184971295519	0.60582	0.177546895011	0.19976	0.559614479542	0.47213	T	0.008912	0.08144	T	-0.574326	0.00209	T	-0.594727	0.13259	T	0.0132353450448309	0.00235	T	0.859414	0.55137	D	0.0666134	0.14349	0.11202055	0.27026	0.0666134	0.14349	0.11202055	0.27025	-3.658	0.18700	T	.	.	0.319	0.54427	B	.	.	2.381070	0.30564	18.48	0.98042833001324559	0.37805	0.76154	0.37329	D	AEFDBIJ	0.147110	0.27071	N	-0.181220228882164	0.33917	1.929786	-0.0160047478032386	0.38992	2.305253	0.906822597963035	0.26242	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.72	3.8	0.42887	1.194000	0.31783	2.021000	0.30209	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.7246:0.1402:0.1353	8.270	0.30998	321	0.86949	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.05	1546.43	36	chr15	50749712	.	C	T	1546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.299;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.074;SOR=0.761	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1135	9	0	1	0
chr15	51400402	51400402	G	A	exonic	GLDN	.	nonsynonymous SNV	GLDN:NM_001330297:exon8:c.G559A:p.V187M,GLDN:NM_181789:exon8:c.G931A:p.V311M	Lethal congenital contracture syndrome 11, Autosomal recessive	435	1083	4	0	0	4	0.00184332	.	.	.	537244	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.0883128101623	.	0.000199681	0.0001	0	0	0	0	2.997e-05	0	0.0008	0.00011	17	154602	rs199785314	6.635e-05	6.635e-05	3.948e-05	9.351e-05	0.0012	5.562e-05	5.152e-05	0.0006	0.0004	0	2.236e-05	0	0	0	0.0012	1.978e-05	0.0003	0.0006	5.91e-05	5.906e-05	5.14e-05	6.715e-05	0.0006	3.076e-05	2.209e-05	0.0002	9.003e-05	0	0	0.0002	0	0	0	0	4.41e-05	0	0.0006	0.165	0.24183	T	0.139	0.33666	T	0.074	0.24142	B	0.033	0.22329	B	0.574274	0.05497	N	1.313460	1	0.08975	N	1.07	0.27075	L	-2.51	0.89293	D	-1.19	0.30346	N	0.188	0.21319	-0.5980	0.64899	T	0.494	0.80820	T	10	0.030881584	0.01218	T	0.088313	0.75108	D	0.134	0.36365	.	.	0.565391359567	0.56202	0.31706030388321416	0.31619	0.123648921173	0.13916	0.227047979832	0.01757	T	0.485411	0.81232	T	-0.42663	0.01554	T	-0.479515	0.24498	T	0.0288728922605515	0.01818	T	0.649135	0.25986	T	0.1517652	0.34485	0.095918335	0.22769	0.1517652	0.34484	0.095918335	0.22768	-7.011	0.54114	T	.	.	0.072	0.08851	B	.;.;.	.;.;.	0.461964	0.08317	5.065	0.93822985145310411	0.23805	0.01002	0.03790	N	AEFDGBI	0.046982	0.07863	N	-0.997947182584483	0.08648	0.4062596	-0.99319807676885	0.09937	0.4973847	0.998568083899201	0.37206	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.79	1.98	0.25351	0.845000	0.27321	1.176000	0.24660	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.253000	0.23340	0.6:0.0:0.2688:0.1312	4.724	0.12310	437	0.80299	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1674.43	33	chr15	51400402	.	G	A	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.64;DP=468;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.48;SOR=0.75	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1286	9	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	593.56	70	chr15	51480616	.	G	C	593.56	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-4.018;DP=832;ExcessHet=1.5895;FS=461.254;InbreedingCoeff=-0.4816;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.28;SOR=10.188	GT:AD:DP:GQ:PL	0/0:38,0:38:32:0,32,1235	1	0	4	5
chr15	52064815	52064815	T	C	exonic	MAPK6	.	nonsynonymous SNV	MAPK6:NM_002748:exon6:c.T1981C:p.F661L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00999997033343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	N	0.090906	0.998691	0.45291	D	0.255	0.09829	N	-0.54	0.70950	T	-0.43	0.14390	N	0.17	0.18103	-0.9663	0.37954	T	0.170	0.51117	T	10	0.09832692	0.17770	T	0.01	0.26012	T	0.099	0.28413	0.252	0.19067	0.292942362817	0.28906	0.5084305033591271	0.50765	0.0261044709138	0.02667	0.520622014999	0.41714	T	0.22831	0.59382	T	-0.132265	0.31130	T	-0.427766	0.30188	T	0.246853113174438	0.22732	T	0.728227	0.34274	T	0.07236734	0.16091	0.07451719	0.16310	0.07236734	0.16091	0.07451719	0.16310	-2.724	0.07506	T	.	.	0.405	0.59865	A	.	.	2.761204	0.36222	20.2	0.96632512907196877	0.30520	0.92191	0.55148	D	AEFBI	0.440909	0.49928	N	-0.309773277962737	0.28776	1.590056	-0.127551966194358	0.34283	1.970367	0.99991020320938	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.95	0.44952	3.720000	0.54661	3.870000	0.40183	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.1682:0.0:0.8318	7.557	0.26998	266	0.89551	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	96.43	41	chr15	52064815	.	T	C	96.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.391;DP=533;ExcessHet=0;FS=137.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=1.05;SOR=7.053	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	9	0	1	0
chr15	52205018	52205018	C	T	exonic	MYO5C	.	nonsynonymous SNV	MYO5C:NM_018728:exon38:c.G4667A:p.S1556N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.0373077975676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.917	0.02327	T	0.604	0.07842	T	0.046	0.21875	B	0.034	0.22546	B	0.000002	0.62929	D	0.097222	0.99669	0.43358	D	1.545	0.39105	L	-2.26	0.87352	D	0.03	0.06612	N	0.301	0.34012	-0.4295	0.71083	T	0.427	0.77042	T	10	0.18046805	0.33231	T	0.037308	0.57535	D	0.390	0.70603	0.44	0.49484	0.669235589889	0.66644	0.48699710006802066	0.48619	0.554508955385	0.52192	0.668217897415	0.62584	T	0.030222	0.21474	T	0.0150244	0.53708	T	-0.216195	0.53102	T	0.815968871116638	0.47475	D	0.776822	0.40920	T	0.20864058	0.43107	0.12857547	0.30932	0.20864058	0.43107	0.12857547	0.30932	-3.898	0.22273	T	.	.	0.163	0.35992	B	.	.	2.663841	0.34712	19.70	0.95309790869695898	0.26641	0.92092	0.54927	D	AEFGBI	0.447014	0.50283	N	-0.312428458498868	0.28674	1.583626	-0.115825100656975	0.34752	2.002564	0.995965489645034	0.34438	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	4.66	4.66	0.57857	2.429000	0.44415	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.088	0.89392	261	0.89765	Dilute domain|Myosin 5c, cargo-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1456.43	124	chr15	52205018	.	C	T	1456.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.451;DP=435;ExcessHet=0;FS=1.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.088;SOR=0.536	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr15	52246968	52246968	G	A	exonic	MYO5C	.	nonsynonymous SNV	MYO5C:NM_018728:exon16:c.C1928T:p.T643M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0647363058689	0.0008	0.000399361	0.0008	0.0001	0.0007	0	0	0.0014	0	0.0001	0.0007374	114	154602	rs56250328	0.0007	0.0007	0.0007	0.0007	0.0132	0.0007	0.0006	0.0108	0.0099	0.0002	0.0012	0.0162	0.0001	0	0.0132	0.0003	0.0020	0.0002	0.0011	0.0011	0.0010	0.0012	0.0037	0.0010	0.0009	0.0030	0.0027	0.0002	0	0.0037	0.0193	0	0	0.0102	0.0004	0.0019	0.0002	0.0	0.91255	D	0.002	0.79402	D	0.915	0.50599	P	0.549	0.49194	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.975	0.85398	M	2.06	0.20523	T	-5.28	0.84246	D	0.523	0.55280	-0.7891	0.55782	T	0.117	0.41275	T	10	0.018510222	0.00403	T	0.064736	0.69366	D	0.264	0.57741	.	.	0.656646541394	0.65378	0.5073467229468648	0.50656	0.233580768399	0.25890	0.690228998661	0.65739	T	0.619224	0.88041	D	-0.233677	0.16164	T	-0.148971	0.59336	T	0.146695269455784	0.16837	T	0.934107	0.75346	D	0.83613324	0.86332	0.6572462	0.79928	0.83613324	0.86334	0.6572462	0.79929	-8.979	0.67562	D	.	.	0.158	0.34906	B	.	.	4.412818	0.68277	25.2	0.99874908391855488	0.95244	0.94979	0.62999	D	AEFGBCIJ	0.854023	0.77103	D	0.465549113053729	0.65090	4.779031	0.366921714893759	0.59532	4.131995	0.999999999849244	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.27	4.36	0.51643	8.147000	0.89557	7.601000	0.61564	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.088000	0.17685	0.0716:0.0:0.9284:0.0	14.460	0.67017	276	0.89131	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.012228	0.017544	0.100000	0.008621	0.003049	0.000000	0.05	1460.43	35	chr15	52246968	.	G	A	1460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.22;DP=429;ExcessHet=0;FS=1.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=1.46;SOR=0.919	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1256	9	0	1	0
chr15	55360892	55360892	A	T	exonic	CCPG1	.	nonsynonymous SNV	CCPG1:NM_001204450:exon8:c.T881A:p.M294K,CCPG1:NM_001204451:exon8:c.T881A:p.M294K,CCPG1:NM_004748:exon8:c.T881A:p.M294K,CCPG1:NM_020739:exon8:c.T881A:p.M294K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00439839178792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	0.09209	T	0.959	0.14369	T	0.003	0.19406	B	0.002	0.16012	B	0.825667	0.09145	N	0.935559	1	0.08975	N	1.115	0.28702	L	3.97	0.28189	T	-0.4	0.40850	N	0.162	0.31365	-0.9645	0.38310	T	0.046	0.19599	T	10	0.0291166	0.01040	T	0.004398	0.10749	T	0.046	0.12618	0.266	0.21261	0.117191471859	0.11215	0.13870746392546698	0.13793	0.227799887911	0.25335	0.291034936905	0.09073	T	0.002284	0.01681	T	-0.216464	0.18478	T	-0.548712	0.17449	T	0.0389845632016659	0.03507	T	0.719228	0.35895	T	0.1400655	0.32331	0.10353237	0.24844	0.1400655	0.32330	0.10353237	0.24843	-1.292	0.01419	T	.	.	0.105	0.21277	B	.;.;.;.	.;.;.;.	0.522917	0.08917	5.697	0.85475273156736431	0.15916	0.14896	0.18641	N	AEFBI	0.169903	0.29677	N	-0.726865578646324	0.15269	0.768049	-0.612301144503623	0.19177	1.027746	0.995152031915438	0.33979	0.732398	0.92422	0	0.743671	0.97443	0	0.602189	0.34648	0	0.677038	0.66255	0	.	.	5.72	3.39	0.37919	0.639000	0.24378	2.254000	0.31710	0.756000	0.94297	0.090000	0.22578	0.119000	0.22882	0.998000	0.85391	0.6983:0.0:0.1548:0.1469	4.681	0.12119	872	0.31118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	839.43	41	chr15	55360892	.	A	T	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.328;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr15	55672580	55672580	C	G	exonic	PRTG	.	nonsynonymous SNV	PRTG:NM_173814:exon11:c.G1906C:p.V636L	.	437	1080	5	0	0	5	0.00230947	.	.	.	703259	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.085	.	0.0075	0.00239617	0.0072	0.0017	0.0056	0.0001	0.0148	0.0097	0.0078	0.0022	0.0068175	1054	154602	rs149494002	0.0087	0.0087	0.0088	0.0085	0.0098	0.0085	0.0085	0.0096	0.0096	0.0016	0.0043	0.0004	5.039e-05	0.0143	0.0014	0.0098	0.0082	0.0027	0.0062	0.0062	0.0064	0.0060	0.0095	0.0059	0.0057	0.0089	0.0087	0.0018	0	0.0033	0.0006	0	0.0135	0.0068	0.0095	0.0038	0.0023	0.113	0.28772	T	0.276	0.22359	T	0.071	0.23930	B	0.038	0.23361	B	0.002061	0.37364	N	0.232951	0.999854	0.49910	D	1.82	0.47800	L	1.96	0.22270	T	-1.6	0.46842	N	0.587	0.60749	-1.1330	0.01644	T	0.040	0.17277	T	10	0.006695509	0.00152	T	.	.	.	0.085	0.24743	0.507	0.60232	0.342631996419	0.33872	0.6183329705583821	0.61766	0.160112996357	0.18061	0.612492501736	0.54668	T	0.065569	0.32721	T	-0.337909	0.05535	T	-0.251053	0.49714	T	0.00679731370280906	0.00077	T	0.869313	0.57326	D	0.1595642	0.35837	0.17360745	0.39699	0.1595642	0.35836	0.17360745	0.39698	-7.412	0.56989	T	.	.	0.341	0.55978	A	.;.	.;.	3.719838	0.53147	23.3	0.99247667342241963	0.56759	0.98198	0.80457	D	AEFBI	0.650962	0.62488	D	0.0629097893960828	0.44739	2.742448	0.232147999281446	0.51640	3.344773	0.997794014938111	0.36039	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	4.661000	0.61213	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	18.678	0.91497	596	0.68392	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1009.43	34	chr15	55672580	.	C	G	1009.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.909;DP=391;ExcessHet=0;FS=2.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.657;SOR=1.112	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1118	9	0	1	0
chr15	55863009	55863009	A	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_198400:exon2:c.T1619C:p.L540P,NEDD4:NM_001284340:exon4:c.T1784C:p.L595P,NEDD4:NM_001284338:exon5:c.T1835C:p.L612P,NEDD4:NM_001284339:exon5:c.T1787C:p.L596P,NEDD4:NM_001329212:exon9:c.T137C:p.L46P,NEDD4:NM_006154:exon9:c.T578C:p.L193P	.	.	.	.	.	.	.	.	.	.	.	3990618	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.875	0.327988301141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.062e-06	2.052e-06	1.368e-06	2.763e-06	3.515e-05	5.5e-07	1.5e-07	9.33e-06	4.59e-06	0	0	0	0	0	0	0	0	3.515e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.001712	0.38216	N	0.225703	1	0.81001	D	4.32	0.98342	H	-2.26	0.87352	D	-5.35	0.91868	D	0.73	0.79696	0.610	0.92029	D	0.645	0.87622	D	10	0.8393119	0.83085	D	0.327988	0.91668	D	0.875	0.96280	0.612	0.74535	0.938332555471	0.93769	0.8503243753396797	0.84994	0.385598575638	0.39849	0.66730517149	0.62453	T	0.645126	0.89163	D	0.402032	0.90029	D	0.339714	0.89904	D	0.996041536331177	0.88560	D	0.919908	0.72323	D	0.9373294	0.94976	0.90449286	0.95295	0.9373294	0.94976	0.90449286	0.95296	-10.216	0.80252	D	.	.	0.792	0.80872	P	.;.;.;.	.;.;.;.	4.653707	0.74205	26.1	0.99913781021380899	0.98238	0.98392	0.82308	D	AEFBI	0.947003	0.95709	D	0.696227995993163	0.79384	7.066516	0.687639894814827	0.81438	7.527055	0.999999999956944	0.74766	0.626454	0.40138	0	0.633656	0.55848	0	0.653264	0.51672	0	0.633917	0.49826	0	.	.	5.56	5.56	0.83678	8.260000	0.89792	11.162000	0.87682	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.906	0.70362	778	0.48011	.;WW domain|WW domain|WW domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	912.43	34	chr15	55863009	.	A	G	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.23;DP=387;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.157;SOR=0.833	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1169	9	0	1	0
chr15	55869581	55869581	C	G	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284340:exon3:c.G1711C:p.E571Q,NEDD4:NM_001284338:exon4:c.G1762C:p.E588Q,NEDD4:NM_001284339:exon4:c.G1762C:p.E588Q,NEDD4:NM_001329212:exon8:c.G64C:p.E22Q,NEDD4:NM_006154:exon8:c.G505C:p.E169Q	.	445	1052	22	3	0	28	0.0131332	0.9842	0.78	.	739699	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.341	.	0.0008	0.00179712	0.0098	0	0.0012	0.0008	0.0136	0.0044	0.0191	0.0236	0.0029236	452	154602	rs200302839	0.0023	0.0024	0.0017	0.0029	0.0189	0.0022	0.0022	0.0181	0.0178	0	0.0003	0.0008	2.638e-05	0.0086	0.0074	0.0010	0.0025	0.0189	0.0021	0.0021	0.0014	0.0027	0.0170	0.0019	0.0018	0.0140	0.0129	4.812e-05	0	0.0003	0.0012	0	0.0091	0	0.0018	0.0009	0.0170	0.137	0.25979	T	0.663	0.28860	T	0.609	0.90584	P	0.254	0.73362	B	.	.	.	.	0.867592	0.81001	D	2.25	0.63811	M	-2.91	0.91696	D	-2.14	0.48523	N	0.531	0.55972	-0.8322	0.53159	T	0.227	0.59221	T	9	0.008531868	0.00193	T	.	.	.	0.341	0.66297	.	.	0.931635973363	0.93093	0.3377238512636838	0.33685	.	.	.	.	.	0.251468	0.62172	T	-0.181927	0.23450	T	-0.0191658	0.69083	D	0.0473805698945018	0.05033	T	0.919908	0.78720	D	0.1940468	0.41138	0.17848879	0.40521	0.1940468	0.41138	0.17848879	0.40520	-10.473	0.76692	D	.	.	0.403	0.59727	A	.;.;.	.;.;.	4.758105	0.76898	26.6	0.99652454092928966	0.77380	0.98588	0.84418	D	AEFBI	0.897493	0.83972	D	0.464009259402484	0.65002	4.768017	0.538009565599981	0.70567	5.524293	0.999999999999816	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	7.266000	0.77851	7.633000	0.62825	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.432	0.90575	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005056	0.000000	0.001359	0.002941	0.000000	0.008621	0.003049	0.015267	0.05	334.43	34	chr15	55869581	.	C	G	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=321;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.6;ReadPosRankSum=-0.567;SOR=0.973	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,871	9	0	1	0
chr15	55873969	55873969	A	T	exonic	NEDD4	.	nonsynonymous SNV	NEDD4:NM_001284338:exon2:c.T1588A:p.Y530N,NEDD4:NM_001284339:exon2:c.T1588A:p.Y530N,NEDD4:NM_006154:exon6:c.T331A:p.Y111N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0226824892986	.	.	4.004e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs776591678	5.02e-06	5.473e-06	4.252e-06	5.807e-06	9.099e-05	2.09e-06	1.34e-06	4.172e-05	3.023e-05	0	0	0	0	0	0	0	0	9.099e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.13045	T	0.341	0.18617	T	0.008	0.29441	B	0.014	0.30180	B	.	.	.	.	1	0.81001	D	-0.61	0.02200	N	-0.41	0.69413	T	-0.22	0.10480	N	0.327	0.45142	-1.0054	0.28337	T	0.126	0.43153	T	9	0.14422327	0.27372	T	0.022682	0.45590	T	0.237	0.54074	0.427	0.47350	0.825318278829	0.82366	0.26000044948656487	0.25914	.	.	.	.	.	0.088874	0.38251	T	-0.0756116	0.40425	T	-0.150752	0.59177	T	0.189294817638251	0.19803	T	0.939106	0.77145	D	0.18861729	0.40369	0.1358372	0.32513	0.18861729	0.40369	0.1358372	0.32512	-2.69	0.43827	T	.	.	0.235	0.48705	B	.;.;.	.;.;.	3.343151	0.46072	22.2	0.91045408916241222	0.20297	0.72224	0.35359	D	AEFBI	0.250101	0.37021	N	-0.268258960058605	0.30382	1.693507	-0.0459162285515734	0.37668	2.208591	0.999990369333981	0.74766	0.660085	0.49399	0	0.588015	0.36545	0	0.618467	0.43123	0	0.651492	0.60203	0	.	.	5.08	5.08	0.68373	2.726000	0.46973	9.177000	0.79062	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.913:0.0:0.087:0.0	8.666	0.33285	809	0.43032	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	298.43	18	chr15	55873969	.	A	T	298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=197;ExcessHet=0;FS=2.187;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=1.58;SOR=1.445	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,462	9	0	1	0
chr15	56701070	56701070	T	C	exonic	ZNF280D	.	nonsynonymous SNV	ZNF280D:NM_001002843:exon5:c.A205G:p.I69V,ZNF280D:NM_001002844:exon6:c.A244G:p.I82V,ZNF280D:NM_001288588:exon6:c.A244G:p.I82V,ZNF280D:NM_001288589:exon6:c.A244G:p.I82V,ZNF280D:NM_017661:exon6:c.A244G:p.I82V	.	438	1074	10	0	0	10	0.00463392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0002	0.00199681	0.0014	0.0002	0.0003	0	0	0.0006	0.0022	0.0072	0.0012419	192	154602	rs145488880	0.0008	0.0008	0.0007	0.0010	0.0068	0.0008	0.0008	0.0064	0.0062	2.99e-05	0.0002	0.0008	0	1.873e-05	0.0054	0.0004	0.0014	0.0068	0.0006	0.0006	0.0005	0.0006	0.0070	0.0005	0.0004	0.0052	0.0045	9.625e-05	0	0.0001	0.0009	0.0002	0	0	0.0006	0.0009	0.0070	0.351	0.12265	T	0.549	0.09457	T	0.016	0.17332	B	0.046	0.24676	B	0.022642	0.01577	N	2.948800	1	0.81001	D	1.59	0.40313	L	1.71	0.26737	T	-0.14	0.09135	N	0.074	0.07535	-1.0586	0.12108	T	0.046	0.19879	T	10	0.0050553977	0.00109	T	.	.	.	0.036	0.09122	.	.	0.256237801699	0.25221	0.08557824835361086	0.08491	0.0395459482803	0.04223	0.341272056103	0.16628	T	0.017188	0.14070	T	-0.59525	0.00156	T	-0.623947	0.10878	T	0.0164448186932982	0.00410	T	0.753225	0.37546	T	0.015967684	0.00168	0.024870241	0.00515	0.015967684	0.00168	0.024870241	0.00515	-2.653	0.07211	T	.	.	0.076	0.05935	B	.;.;.;.	.;.;.;.	1.494431	0.19221	14.15	0.83608675770925156	0.14820	0.72752	0.35600	D	AEFBI	0.069653	0.13797	N	-0.464875033161856	0.23239	1.246515	-0.326959416843799	0.27231	1.509586	0.0370836561118398	0.14278	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.7	0.26	0.14844	0.477000	0.21906	-1.453000	0.05405	0.609000	0.47794	1.000000	0.71638	0.000000	0.08366	0.981000	0.58702	0.1236:0.1975:0.0:0.679	6.047	0.18990	485	0.77085	.;Domain of unknown function DUF4195;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.015152	0.05	936.43	34	chr15	56701070	.	T	C	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=413;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=2.85;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	9	0	1	0
chr15	58065641	58065641	T	A	exonic	ALDH1A2	.	nonsynonymous SNV	ALDH1A2:NM_003888:exon1:c.A10T:p.S4C,ALDH1A2:NM_170696:exon1:c.A10T:p.S4C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.927593764587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.044	0.52727	D	0.94	0.63424	P	0.533	0.55126	P	0.002708	0.36068	N	0.184440	0.999923	0.81001	D	2.075	0.57047	M	-1.02	0.76300	T	-1.09	0.28290	N	0.564	0.61849	-0.3153	0.74554	T	0.344	0.70948	T	10	0.76409423	0.76569	D	0.927594	0.99472	D	0.377	0.69527	0.241	0.17371	0.608015463435	0.60486	0.658418537707282	0.65778	1.14165798427	0.78952	0.72115457058	0.70216	T	0.300025	0.67253	T	0.0670819	0.60491	T	-0.141418	0.59994	T	0.977452039718628	0.71852	D	0.89681	0.63970	D	0.21547055	0.43981	0.21674287	0.46313	0.21547055	0.43981	0.21674287	0.46312	-5.508	0.42027	T	.	.	0.135	0.29228	B	.;.	.;.	4.640208	0.73860	26.1	0.99338378199378885	0.60051	0.96847	0.71262	D	AEFDBHCI	0.947488	0.95808	D	0.23343586224901	0.52824	3.454371	0.225547635343898	0.51271	3.31094	0.999999999999999	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	3.34	3.34	0.37357	6.767000	0.74770	.	.	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	11.130	0.47566	930	0.16408	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	614.43	34	chr15	58065641	.	T	A	614.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.177;DP=309;ExcessHet=0;FS=1.553;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.2;ReadPosRankSum=1.14;SOR=1.329	GT:AD:DP:GQ:PL	0/0:18,0:18:51:0,51,765	9	0	1	0
chr15	58679228	58679228	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T380C:p.F127S,ADAM10:NM_001320570:exon4:c.T380C:p.F127S	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0468036735907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10180	T	0.516	0.10607	T	0.007	0.14184	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.08	0.57402	M	3.31	0.06291	T	-0.78	0.21644	N	0.935	0.94077	-0.9607	0.39050	T	0.017	0.07092	T	10	0.85673785	0.84874	D	0.046804	0.62629	D	0.330	0.65226	0.818	0.93195	0.750870991732	0.74862	0.7810347544278903	0.78054	0.553159282221	0.52090	0.677485346794	0.63908	T	0.101358	0.40805	T	0.194837	0.73410	D	0.042093	0.73064	D	0.715053021907806	0.41450	D	0.922708	0.71908	D	0.5953555	0.72440	0.5304736	0.72871	0.5953555	0.72442	0.5304736	0.72871	-8.731	0.65949	D	0.1890421041001883	0.24712	0.650	0.70937	P	.	.	4.221973	0.63864	24.6	0.99776152517939554	0.86346	0.98859	0.87803	D	AEFGBI	0.936427	0.93272	D	0.0111440760784277	0.42361	2.550938	0.230508985727639	0.51549	3.336423	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	85.43	33	chr15	58679228	.	A	G	85.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.99;DP=373;ExcessHet=0;FS=45.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.35;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,978:.	9	0	1	0
chr15	58679229	58679229	A	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon4:c.T379C:p.F127L,ADAM10:NM_001320570:exon4:c.T379C:p.F127L	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.0308426739969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.659	0.04713	T	0.786	0.04247	T	0.001	0.07471	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.425	0.70256	M	3.48	0.05130	T	-1.05	0.27463	N	0.832	0.82761	-1.0492	0.14621	T	0.025	0.10553	T	10	0.5821212	0.65908	D	0.030843	0.53068	D	0.271	0.58633	0.435	0.48664	0.709354412968	0.70681	0.7320703265798069	0.73152	0.355086823408	0.37273	0.697846770287	0.66833	T	0.132989	0.46340	T	0.168356	0.70972	D	0.00405502	0.70598	D	0.940934717655182	0.61372	D	0.956104	0.83363	D	0.58675337	0.71975	0.49563286	0.70832	0.58675337	0.71976	0.49563286	0.70832	-7.085	0.54652	T	0.3824464867043131	0.47668	0.905	0.83091	P	.	.	4.067430	0.60402	24.2	0.99704682104758291	0.80867	0.98859	0.87803	D	AEFGBI	0.933045	0.92432	D	0.0815813711254063	0.45603	2.814187	0.263518944222337	0.53424	3.511277	0.999999999982885	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.67	5.67	0.87673	8.905000	0.92214	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.900	0.79150	945	0.12563	Peptidase M12B, propeptide	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	85.43	33	chr15	58679229	.	A	G	85.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.342;DP=374;ExcessHet=0;FS=45.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.33;ReadPosRankSum=1.32;SOR=5.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,978:.	9	0	1	0
chr15	59163157	59163157	G	C	exonic	MYO1E	.	nonsynonymous SNV	MYO1E:NM_004998:exon23:c.C2627G:p.T876R	Glomerulosclerosis, focal segmental, 6, Autosomal recessive	2	1515	4	0	1	5	0.00131839	0.0002	0.102	YES	860175	Focal_segmental_glomerulosclerosis_6|MYO1E-related_disorder|not_provided	MONDO:MONDO:0013589,MedGen:C3279905,OMIM:614131,Orphanet:656|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0126745939625	0.0025	0.000199681	0.0015	0.0011	8.881e-05	0	0.0002	0.0021	0.0023	0.0017	0.0015653	242	154602	rs147596471	0.0027	0.0027	0.0027	0.0027	0.0033	0.0026	0.0026	0.0032	0.0031	0.0003	0.0006	3.828e-05	5.039e-05	0.0003	0.0003	0.0033	0.0028	0.0013	0.0015	0.0015	0.0017	0.0013	0.0028	0.0014	0.0013	0.0025	0.0024	0.0003	0	0.0010	0	0	0.0002	0	0.0028	0.0014	0.0012	0.444	0.09155	T	0.636	0.07059	T	0.001	0.07471	B	0.006	0.12133	B	0.000053	0.53742	D	0.163829	0.999999	0.58761	D	0.55	0.14455	N	1.21	0.37230	T	-0.66	0.19085	N	0.461	0.49783	-1.0848	0.06444	T	0.052	0.22192	T	9	0.016517103	0.00348	T	0.012675	0.31446	T	0.178	0.44724	.	.	0.520586239559	0.51704	0.6389046100548437	0.63824	0.301061417325	0.32454	0.733673036098	0.72043	T	0.096844	0.39906	T	-0.299329	0.08724	T	-0.201788	0.54476	T	0.0115339636240952	0.00174	T	0.919908	0.71037	D	0.090014316	0.21048	0.10514897	0.25270	0.10629278	0.25133	0.08917522	0.20836	-11.6	0.82848	D	.	.	0.324	0.54775	B	.	.	3.157853	0.42778	21.6	0.6009698225517609	0.06381	0.96367	0.68792	D	AEFGBI	0.686268	0.64800	D	-0.252186376787559	0.31016	1.735047	-0.133058076294497	0.34067	1.955516	0.999999999563368	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.09	4.09	0.47038	4.062000	0.57206	5.654000	0.49193	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0891:0.0:0.9109:0.0	10.524	0.44126	360	0.84920	Class I myosin tail homology domain|Class I myosin tail homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	328.43	34	chr15	59163157	.	G	C	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=359;ExcessHet=0;FS=4.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=0.623;SOR=1.445	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1007	9	0	1	0
chr15	59207979	59207979	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1039G:p.N347D	.	430	1024	68	0	0	68	0.0321361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00472821439629	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs79607288	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.316e-05	0.0008	1.288e-05	1.347e-05	2.411e-05	2.19e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.474e-05	0	0	0.08	0.33585	T	0.101	0.38596	T	0.011	0.15914	B	0.036	0.22909	B	0.003291	0.35154	U	0.227134	0.615938	0.32663	D	1.295	0.32453	L	-0.25	0.67011	T	-2.22	0.49846	N	0.126	0.11912	-0.8740	0.50226	T	0.196	0.55056	T	10	0.14880553	0.28173	T	0.004728	0.11784	T	0.062	0.17934	.	.	0.536616348568	0.53311	0.03866333602263275	0.03812	0.0189453964245	0.01848	0.306285023689	0.11345	T	0.108095	0.42085	T	-0.127537	0.31894	T	-0.420975	0.30964	T	0.306236803531647	0.25260	T	0.586841	0.21439	T	0.2530445	0.48323	0.33686218	0.59483	0.2530445	0.48323	0.33686218	0.59482	-5.914	0.45554	T	.	.	0.069	0.03197	B	.	.	0.917677	0.12926	9.433	0.98872967153225388	0.47684	0.07590	0.13600	N	AEFDBI	0.038607	0.05489	N	-0.795969993998664	0.13414	0.6606697	-0.870301225830774	0.12801	0.6605371	0.967472809720144	0.28980	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	2.42	0.28720	0.587000	0.23611	6.392000	0.55560	0.691000	0.84096	0.000000	0.06391	1.000000	0.68203	0.239000	0.22975	1.0:0.0:0.0:0.0	8.344	0.31422	340	0.86005	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	44	chr15	59207979	.	A	G	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.107;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.26;MQRankSum=-4.688;QD=0.58;ReadPosRankSum=1.58;SOR=0.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2752:59207979	9	0	1	0
chr15	59207981	59207981	C	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.C1041G:p.N347K	.	430	1025	67	0	0	67	0.0316486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0107333217821	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs77368390	4.792e-06	0.0002	2.725e-06	6.881e-06	6.297e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.297e-06	0	0	1.318e-05	0.0008	1.289e-05	1.349e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.475e-05	0	0	0.034	0.44029	D	0.115	0.36630	T	0.305	0.32678	B	0.117	0.32014	B	0.003291	0.35154	U	0.227134	0.999999	0.58761	D	1.805	0.47535	L	-0.29	0.67712	T	-3.34	0.66325	D	0.17	0.18103	-0.8079	0.54677	T	0.219	0.58137	T	10	0.21257398	0.37721	T	0.010733	0.27599	T	0.103	0.29403	0.397	0.42426	0.471700387322	0.46796	0.05045534889425341	0.04988	0.0253377058962	0.02582	0.306099057198	0.11317	T	0.302661	0.67505	T	-0.0797341	0.39756	T	-0.352309	0.38941	T	0.683018445968628	0.39926	D	0.776522	0.40874	T	0.32717288	0.55238	0.5131278	0.71866	0.32717288	0.55238	0.5131278	0.71867	-5.282	0.39764	T	.	.	0.118	0.24226	B	.	.	-0.001911	0.04269	1.063	0.96235942516509487	0.29135	0.02801	0.07522	N	AEFDBI	0.047688	0.08056	N	-0.942493850555712	0.09862	0.468649	-1.10702193125262	0.07565	0.3684791	0.76259482655588	0.23535	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	2.42	-0.268	0.12295	-0.035000	0.12156	-1.340000	0.05675	-0.828000	0.02899	0.019000	0.19563	0.000000	0.08366	0.216000	0.22352	0.0:0.2736:0.0:0.7264	5.910	0.18265	340	0.86005	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	41.43	44	chr15	59207981	.	C	G	41.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.225;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.26;MQRankSum=-4.688;QD=0.58;ReadPosRankSum=1.85;SOR=0.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:53:0|1:59207979_A_G:53,0,2752:59207979	9	0	1	0
chr15	59208031	59208031	A	C	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1091C:p.H364P	.	424	1044	54	0	0	54	0.0252101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.00486081327491	.	.	.	.	.	.	.	.	.	.	.	.	.	rs145956187	6.95e-07	4.31e-05	0	1.398e-06	9.039e-07	0	0	.	.	0	0	0	0	0	0	9.039e-07	0	0	6.575e-06	0.0004	0	1.345e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.04	0.42199	D	0.209	0.26798	T	0.006	0.13644	B	0.016	0.17743	B	0.352047	0.13800	U	0.634852	0.985489	0.40291	D	0.625	0.15840	N	-0.23	0.66652	T	-1.17	0.29933	N	0.144	0.14480	-0.8837	0.49464	T	0.196	0.55028	T	10	0.1232011	0.23384	T	0.004861	0.12192	T	0.221	0.51721	.	.	0.432493127443	0.42867	0.4412992855339442	0.44046	0.0234488037338	0.02381	0.22820186615	0.01838	T	0.087428	0.37940	T	-0.122539	0.32710	T	-0.413795	0.31788	T	0.31803297996521	0.25742	T	0.433957	0.11861	T	0.36126763	0.57932	0.27047408	0.52939	0.36126763	0.57933	0.27047408	0.52938	-8.579	0.64950	D	.	.	0.161	0.35663	B	.	.	0.622097	0.09905	6.665	0.23076867992127034	0.00959	0.78590	0.38796	D	AEFDBI	0.209905	0.33585	N	-1.22873326991558	0.04588	0.2073661	-1.31514284077204	0.04234	0.1992842	0.811020413863431	0.24355	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	-1.62	0.07926	3.643000	0.54109	-4.724000	0.02015	-0.462000	0.05112	1.000000	0.71638	0.000000	0.08366	0.235000	0.22869	0.5639:0.0:0.4361:0.0	5.192	0.14542	341	0.85936	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	72.43	44	chr15	59208031	.	A	C	72.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.222;DP=457;ExcessHet=0;FS=1.778;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.03;MQRankSum=-4.038;QD=1.32;ReadPosRankSum=-1.194;SOR=0.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:84:0|1:59208023_A_G:84,0,2039:59208023	9	0	1	0
chr15	59208039	59208039	A	G	exonic	LDHAL6B	.	nonsynonymous SNV	LDHAL6B:NM_033195:exon1:c.A1099G:p.K367E	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0044559325617	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386454738	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.09	0.40267	T	0.362	0.33945	B	0.16	0.34752	B	0.003617	0.34713	U	0.179677	1	0.81001	D	2.055	0.56616	M	-0.33	0.68329	T	-2.56	0.55339	D	0.316	0.35620	-0.7192	0.59502	T	0.221	0.58434	T	10	0.3018667	0.47726	T	0.004456	0.10906	T	0.184	0.45763	.	.	0.707097973601	0.70454	0.0805445634393412	0.07989	0.0946744460692	0.10693	0.317170917988	0.12992	T	0.288609	0.66141	T	-0.0918196	0.37777	T	-0.369669	0.36927	T	0.475559115409851	0.31735	T	0.737626	0.35462	T	0.30485794	0.53337	0.2265665	0.47638	0.30485794	0.53337	0.2265665	0.47637	-6.212	0.48020	T	.	.	0.072	0.04316	B	.	.	1.653422	0.21093	15.05	0.96544986378234454	0.30200	0.78226	0.38563	D	AEDBI	0.126814	0.24391	N	-0.476633201795909	0.22848	1.222878	-0.60383256547261	0.19395	1.04034	0.911661248317906	0.26373	0.475973	0.10046	0	0.601575	0.49859	0	0.446627	0.06593	0	0.714379	0.83352	0	.	.	1.47	1.47	0.21832	2.835000	0.47876	6.311000	0.55429	0.413000	0.20698	1.000000	0.71638	1.000000	0.68203	0.331000	0.25224	1.0:0.0:0.0:0.0	6.659	0.22195	341	0.85936	Lactate/malate dehydrogenase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	75.43	44	chr15	59208039	.	A	G	75.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.061;DP=441;ExcessHet=0;FS=1.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.42;MQRankSum=-2.794;QD=1.64;ReadPosRankSum=-2.44;SOR=0.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,5:46:87:0|1:59208023_A_G:87,0,1707:59208023	9	0	1	0
chr15	59618450	59618450	C	G	exonic	GCNT3	.	stopgain	GCNT3:NM_004751:exon3:c.C212G:p.S71X	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000399361	0.0012	0.0004	0.0011	0	0.0003	0.0015	0.0033	0.0013	0.001229	190	154602	rs138620928	0.0017	0.0017	0.0017	0.0018	0.0020	0.0017	0.0016	0.0019	0.0019	0.0005	0.0010	0.0006	0	0.0001	0.0009	0.0020	0.0016	0.0013	0.0014	0.0014	0.0015	0.0014	0.0023	0.0013	0.0012	0.0020	0.0019	0.0004	0	0.0021	0.0003	0	9.423e-05	0	0.0023	0.0009	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.008210	0.30959	N	0.313430	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301626	0.83098	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive|Recessive;Recessive|Recessive;.	.;High|High;High|High;.	8.260973	0.97357	37	0.99511947241223164	0.68678	0.99078	0.90902	D	AEFBI	0.092318	0.18690	N	1.00680970283593	0.95950	14.13746	0.836821353762288	0.92224	11.30429	0.99999999998987	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	6.16	6.16	0.99302	4.377000	0.59330	7.657000	0.64017	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.078000	0.17132	0.0:1.0:0.0:0.0	20.860	0.99763	897	0.25382	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	2556.14	128	chr15	59618450	.	C	G	2556.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.51;DP=493;ExcessHet=0.2348;FS=4.882;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=1.3;SOR=1.027	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1136	8	0	2	0
chr15	60466706	60466706	T	C	exonic	ICE2	.	nonsynonymous SNV	ICE2:NM_001018089:exon5:c.A5G:p.K2R,ICE2:NM_001276385:exon5:c.A416G:p.K139R,ICE2:NM_024611:exon5:c.A416G:p.K139R	.	473	1012	31	6	0	43	0.0208031	.	.	.	247103	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.086	.	0.0034	0.00319489	0.0046	0.0006	0.0050	0	0.0017	0.0053	0.0123	0.0076	0.0042626	659	154602	rs141469235	0.0039	0.0039	0.0036	0.0042	0.0375	0.0038	0.0038	0.0334	0.0318	0.0009	0.0041	0.0116	0	0.0007	0.0375	0.0036	0.0053	0.0071	0.0034	0.0034	0.0034	0.0034	0.0060	0.0032	0.0031	0.0047	0.0043	0.0006	0	0.0056	0.0150	0	0.0003	0.0374	0.0044	0.0076	0.0060	0.132	0.28395	T	0.0	0.92824	D	0.011	0.15914	B	0.039	0.23607	B	0.000010	0.62929	N	0.143624	0.881205	0.28217	N	.	.	.	.	.	.	-1.16	0.38734	N	0.347	0.40565	-1.0173	0.24592	T	0.075	0.30086	T	9	0.0048990846	0.00105	T	.	.	.	0.086	0.25016	.	.	0.286465849087	0.28247	0.4481480065615123	0.44732	0.0322991013755	0.03370	0.416876375675	0.27408	T	0.195622	0.55175	T	-0.426762	0.01551	T	-0.381645	0.35531	T	0.00878286187625186	0.00108	T	0.627737	0.24333	T	0.073002785	0.16280	0.107430704	0.25862	0.073002785	0.16280	0.107430704	0.25861	-4.082	0.25024	T	.	.	0.096	0.16054	B	.;.;.;.	.;.;.;.	2.417906	0.31083	18.64	0.98980303629935873	0.49720	0.86475	0.45763	D	AEGBI	0.271256	0.38715	N	-0.568224593425859	0.19916	1.046035	-0.378723331715035	0.25632	1.41081	0.999987160530296	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.11	3.82	0.43153	2.645000	0.46287	1.930000	0.29765	-0.118000	0.14412	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1301:0.0:0.8699	11.454	0.49414	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030746	0.020408	0.038043	0.035088	0.050000	0.060345	0.021341	0.015152	0.05	610.43	34	chr15	60466706	.	T	C	610.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.327;DP=357;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.85;ReadPosRankSum=0.021;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,951	9	0	1	0
chr15	61945803	61945803	G	A	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon43:c.C4931T:p.A1644V,VPS13C:NM_018080:exon43:c.C4931T:p.A1644V,VPS13C:NM_001018088:exon45:c.C5060T:p.A1687V,VPS13C:NM_020821:exon45:c.C5060T:p.A1687V	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	432	1055	33	2	0	37	0.0172333	.	.	.	714522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0018	0.00399361	0.0037	0.0008	0.0010	0.0002	0.0012	0.0033	0.0044	0.0116	0.0032988	510	154602	rs114089496	0.0032	0.0032	0.0030	0.0035	0.0113	0.0032	0.0031	0.0107	0.0105	0.0005	0.0013	0.0005	5.047e-05	0.0010	0.0092	0.0030	0.0031	0.0113	0.0020	0.0020	0.0019	0.0021	0.0108	0.0018	0.0017	0.0084	0.0076	0.0005	0	0.0015	0.0006	0.0002	0.0011	0.0102	0.0027	0.0038	0.0108	0.294	0.49117	T	.	.	.	0.038	0.23455	B	0.066	0.30313	B	0.064746	0.21930	N	0.499217	0.976149	0.25392	N	2.215	0.62545	M	0.94	0.43672	T	-0.98	0.26639	N	0.096	0.24260	-0.9987	0.30283	T	0.108	0.39075	T	10	0.006000012	0.00135	T	.	.	.	0.035	0.08770	.	.	0.476908202251	0.47319	0.324965648843083	0.32409	0.0267110625273	0.02732	0.328295946121	0.14677	T	0.021808	0.16921	T	-0.563124	0.00243	T	-0.57227	0.15243	T	0.00707998729020647	0.00081	T	0.90161	0.65783	D	0.030280372	0.02663	0.053890113	0.09165	0.031328395	0.02953	0.048879843	0.07353	-4.258	0.29880	T	0.26190785582347703	0.35351	0.086	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	1.867846	0.23728	16.13	0.9957987310565598	0.72921	0.48904	0.28312	N	AEFBI	0.137811	0.25891	N	-0.28019721746193	0.29914	1.663151	-0.1814191148143	0.32219	1.830927	0.0667973363825362	0.15405	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.44	4.5	0.54382	2.169000	0.42061	3.638000	0.39337	0.618000	0.50648	0.312000	0.25432	0.610000	0.25763	0.996000	0.76049	0.076:0.2944:0.6296:0.0	8.991	0.35187	892	0.26670	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.011364	0.05	1219.43	107	chr15	61945803	.	G	A	1219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.58;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-0.838;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1120	9	0	1	0
chr15	62164450	62164450	C	T	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G535A:p.V179I	.	443	1078	1	0	0	1	0.000463607	.	.	.	2333039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	.	.	.	0.0030	0	0.1	0	.	0.0089	0	0	3.88e-05	6	154602	rs760521041	0.0003	0.0003	0.0003	0.0003	0.0048	0.0003	0.0002	0.0041	0.0038	0.0048	0.0012	0.0005	0	0	0.0025	0.0002	0.0008	5.156e-05	0.0017	0.0017	0.0017	0.0018	0.0044	0.0016	0.0015	0.0039	0.0037	0.0044	0	0.0036	0.0009	0	0	0.0171	0.0002	0.0024	0	0.038	0.42783	D	0.007	0.69154	D	0.186	0.29254	B	0.015	0.17295	B	0.125124	0.18854	N	0.517343	0.999996	0.08975	N	0.405	0.12330	N	1.55	0.29866	T	-0.42	0.14193	N	0.026	0.00527	-1.0684	0.09768	T	0.038	0.16462	T	10	0.0034444034	0.00061	T	.	.	.	0.042	0.11227	.	.	0.220303561663	0.21668	0.11870272283372195	0.11797	0.690347448595	0.60529	0.875917315483	0.93403	D	0.005074	0.04506	T	-0.660411	0.00062	T	-0.723517	0.04627	T	0.119454200249619	0.14376	T	0.408959	0.10549	T	0.084989645	0.19694	0.17766228	0.40383	0.084989645	0.19694	0.17766228	0.40382	-4.873	0.35430	T	.	.	0.159	0.35183	B	.	.	2.081612	0.26473	17.13	0.9838386006813955	0.40884	0.53743	0.29446	D	AEFDBCI	0.137939	0.25908	N	-0.527219565076566	0.21203	1.123555	-0.453760182132292	0.23442	1.27844	0.999956896807463	0.48110	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.492483	0.08430	1	.	.	3.26	3.26	0.36471	-0.157000	0.10072	2.339000	0.32242	0.431000	0.20936	0.060000	0.21767	1.000000	0.68203	0.088000	0.17685	0.0:0.8465:0.0:0.1535	5.948	0.18468	279	0.89001	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007426	0.007576	0.020115	0.003906	0.000000	0.000000	0.000000	0.000000	0.05	166.55	25	chr15	62164450	.	C	T	166.55	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=-0.0623;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.257;SOR=0.495	GT:AD:DP:GQ:PL	0/0:21,0:21:57:0,57,855	9	0	1	0
chr15	62164783	62164783	C	G	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G202C:p.A68P	.	421	1013	82	6	0	94	0.0443396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	0.0036	0.0139776	0.0439	0.0102	0.0222	0	0.0455	0.0300	0.0323	0.0540	0.0054656	845	154602	rs146941362	0.0098	0.0096	0.0089	0.0107	0.0407	0.0097	0.0096	0.0395	0.0390	0.0021	0.0047	0.0178	0.0004	0.0038	0.0368	0.0082	0.0114	0.0407	0.0069	0.0069	0.0066	0.0072	0.0415	0.0065	0.0064	0.0368	0.0350	0.0027	0.0077	0.0052	0.0173	0.0010	0.0045	0.0171	0.0075	0.0104	0.0415	0.263	0.16412	T	0.197	0.27855	T	0.863	0.47474	P	0.562	0.49608	P	0.717320	0.09964	U	0.841107	1	0.08975	N	1.445	0.36358	L	-3.27	0.93640	D	-1.54	0.37375	N	0.119	0.10911	-0.3071	0.74787	T	0.494	0.80816	T	10	0.002736181	0.00043	T	.	.	.	0.297	0.61730	.	.	.	.	0.08612991599421099	0.08546	1.94099853373	0.93232	0.790393352509	0.80503	T	0.006496	0.05931	T	-0.404157	0.02174	T	-0.321904	0.42365	T	0.0249916728120931	0.01272	T	0.435556	0.11926	T	0.14233036	0.32760	0.19578515	0.43275	0.14233036	0.32759	0.19578515	0.43274	-3.454	0.15794	T	.	.	0.087	0.11269	B	.	.	0.845048	0.12171	8.717	0.9855664577571297	0.42922	0.12150	0.17090	N	AEFDBCIJ	0.321505	0.42428	N	-0.642543929129143	0.17678	0.9116954	-0.842017092142143	0.13479	0.6994675	0.999950864942535	0.48110	0.59774	0.34471	0	0.596491	0.49125	0	0.378051	0.06126	2	0.581474	0.35302	0	.	.	3.25	-0.0685	0.13088	-0.595000	0.05822	-0.498000	0.08819	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1906:0.4752:0.0:0.3342	3.087	0.05904	277	0.89083	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027244	0.005882	0.022857	0.024242	0.000000	0.045455	0.013158	0.067460	0.1	2025.14	85	chr15	62164783	.	C	G	2025.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.058;DP=463;ExcessHet=0.2348;FS=5.787;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.794;SOR=0.985	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,977	8	0	2	0
chr15	63129605	63129605	C	T	exonic	LACTB	.	nonsynonymous SNV	LACTB:NM_032857:exon5:c.C1073T:p.T358M,LACTB:NM_171846:exon5:c.C1073T:p.T358M	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0155905167387	.	.	1.651e-05	0	0	0	0	1.501e-05	0	6.094e-05	1.29e-05	2	154602	rs756244410	1.85e-05	1.915e-05	1.636e-05	2.066e-05	0.0001	1.267e-05	1.086e-05	3.355e-05	1.986e-05	0	0	0	0.0001	0	0	1.53e-05	3.317e-05	4.661e-05	6.574e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.034	0.45756	D	0.019	0.59159	D	0.998	0.73220	D	0.891	0.63213	P	0.000281	0.46590	D	0.219721	0.748622	0.29661	N	1.15	0.29295	L	0.97	0.42502	T	-1.68	0.40082	N	0.379	0.42050	-0.8996	0.48034	T	0.160	0.49480	T	10	0.32392278	0.49722	T	0.015591	0.36407	T	0.152	0.39956	0.441	0.49648	0.687275677094	0.68460	0.6797279741461497	0.67911	0.995737323308	0.74226	0.482673048973	0.36425	T	0.036954	0.24298	T	-0.204291	0.20189	T	-0.349079	0.39309	T	0.796456217765808	0.46114	D	0.925407	0.73951	D	0.15140617	0.34421	0.20100911	0.44059	0.15140617	0.34421	0.20100911	0.44058	-11.324	0.81404	D	.	.	0.090	0.21125	B	.;.	.;.	4.919570	0.81018	27.5	0.99914388843447621	0.98309	0.94573	0.61606	D	AEFGBI	0.528344	0.54991	D	0.659861442240541	0.77008	6.592834	0.701284557853939	0.82475	7.77651	0.999999951377855	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	5.552000	0.66986	7.627000	0.62562	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.1516:0.8484:0.0:0.0	13.948	0.63608	759	0.50631	Beta-lactamase-related;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	524.43	33	chr15	63129605	.	C	T	524.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.579;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.95;ReadPosRankSum=-2.18;SOR=0.646	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1022	9	0	1	0
chr15	63663037	63663037	C	T	exonic	HERC1	.	nonsynonymous SNV	HERC1:NM_003922:exon44:c.G8848A:p.D2950N	Macrocephaly, dysmorphic facies, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0042069741562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.295	0.20680	T	0.2	0.29645	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.75	0.26152	T	-0.79	0.21860	N	0.342	0.38335	-1.0957	0.04653	T	0.078	0.30982	T	10	0.15499854	0.29224	T	0.004207	0.10153	T	0.117	0.32689	0.224	0.14813	0.0934897674506	0.08844	0.8564759377475429	0.85610	1.06899569482	0.76745	0.836723029613	0.87594	D	0.116465	0.43584	T	-0.222763	0.17618	T	-0.55776	0.16587	T	0.882360637187958	0.53246	D	0.962254	0.85785	D	0.2077112	0.42985	0.1881002	0.42081	0.2077112	0.42984	0.1881002	0.42080	-4.35	0.28872	T	.	.	0.404	0.59788	A	.	.	4.529238	0.71081	25.6	0.99917986830066463	0.98518	0.98845	0.87614	D	AEFBI	0.852492	0.76940	D	0.326699993145109	0.57522	3.91989	0.495299746844576	0.67678	5.116288	0.999999999999982	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.902000	0.86082	7.728000	0.67649	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.317	0.98658	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1723.43	34	chr15	63663037	.	C	T	1723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.805;DP=437;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=-1.275;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1213	9	0	1	0
chr15	64397687	64397687	G	A	exonic	TRIP4	.	nonsynonymous SNV	TRIP4:NM_016213:exon4:c.G487A:p.V163I	Spinal muscular atrophy with congenital bone fractures 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00340167790106	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs746409740	4.104e-06	4.788e-06	4.084e-06	4.125e-06	2.236e-05	1.48e-06	9.7e-07	.	.	0	2.236e-05	0	0	0	0	8.993e-07	4.967e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.24955	T	0.296	0.20615	T	0.78	0.44271	P	0.105	0.31087	B	0.000001	0.84330	D	0.054795	0.999994	0.58761	D	2.075	0.57047	M	.	.	.	-0.48	0.15379	N	0.286	0.32370	-0.8309	0.53244	T	0.158	0.49161	T	9	0.24846965	0.42144	T	0.003402	0.07633	T	0.131	0.35738	0.421	0.46365	0.409262747536	0.40539	0.1955031072549032	0.19467	0.16765869576	0.18903	0.513519287109	0.40715	T	0.032414	0.22475	T	-0.131641	0.31232	T	-0.344004	0.39890	T	0.463170826435089	0.31281	T	0.909209	0.67884	D	0.089792885	0.20991	0.1159399	0.27990	0.089792885	0.20990	0.1159399	0.27989	-6.169	0.47671	T	0.13340871171360671	0.14315	0.074	0.05274	B	.	.	3.645926	0.51717	23.1	0.92361021483239936	0.21764	0.99304	0.94225	D	AEFGBI	0.864078	0.78278	D	0.395397930603505	0.61171	4.314788	0.49270266390827	0.67504	5.093068	0.999999838360268	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	7.725000	0.83768	9.762000	0.81515	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.260	0.93950	300	0.87974	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	940.43	35	chr15	64397687	.	G	A	940.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.076;DP=393;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.24;SOR=0.506	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,994	9	0	1	0
chr15	64944715	64944715	A	T	exonic	ANKDD1A	.	nonsynonymous SNV	ANKDD1A:NM_182703:exon12:c.A1129T:p.I377L	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0141778372945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.42794	T	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	D	0.000000	0.999998	0.81001	D	-0.35	0.03145	N	.	.	.	.	.	.	0.6	0.66873	-0.7863	0.55944	T	0.210	0.57041	T	10	0.54149187	0.63745	D	0.014178	0.34122	T	0.294	0.61388	0.48	0.55983	0.588745719774	0.58549	0.43524705359766486	0.43441	.	.	0.52411866188	0.42207	T	0.042975	0.26354	T	0.134562	0.67802	D	-0.0444872	0.67398	D	0.999365508556366	0.97117	D	0.631037	0.24617	T	0.57295823	0.71222	0.55713147	0.74382	0.57295823	0.71223	0.55713147	0.74383	-10.629	0.77584	D	.	.	0.268	0.50232	B	.;.	.;.	4.178674	0.62890	24.5	0.99537197771985353	0.70274	0.98020	0.78929	D	AEFDGBI	0.780561	0.71242	D	0.549431009241446	0.70048	5.444564	0.584963836047172	0.73861	6.040314	0.999973161575803	0.50053	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.23	5.23	0.72570	7.135000	0.76878	4.884000	0.45695	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.110	0.64647	245	0.90404	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1289.43	43	chr15	64944715	.	A	T	1289.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=459;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.062;SOR=0.576	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1272	9	0	1	0
chr15	65055125	65055125	A	T	exonic	RASL12	.	nonsynonymous SNV	RASL12:NM_001307930:exon4:c.T518A:p.L173Q,RASL12:NM_001379429:exon5:c.T542A:p.L181Q,RASL12:NM_016563:exon5:c.T575A:p.L192Q	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.0703641658166	.	.	1.965e-05	0	0	0	0	3.603e-05	0	0	1.29e-05	2	154602	rs773062973	1.303e-05	1.3e-05	1.228e-05	1.379e-05	2.99e-05	8.33e-06	6.72e-06	1.013e-05	8.36e-06	2.99e-05	0	0	0	0	0	1.621e-05	0	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.061	0.37118	T	0.553	0.33666	T	0.105	0.25993	B	0.017	0.18140	B	0.330384	0.14123	N	0.664334	1	0.08975	N	0	0.06538	N	-1.35	0.80035	T	-0.26	0.11185	N	0.091	0.13341	-0.9375	0.43010	T	0.195	0.54826	T	10	0.067866355	0.09518	T	0.070364	0.70982	D	0.165	0.42395	0.336	0.32491	0.330069100803	0.32608	0.1864160560567034	0.18559	0.233007264821	0.25837	0.34730297327	0.17525	T	0.094968	0.39524	T	-0.132808	0.31041	T	-0.358708	0.38203	T	0.071262817642043	0.08827	T	0.818018	0.47523	T	0.15418918	0.34913	0.19829382	0.43655	0.15418918	0.34912	0.19829382	0.43654	-3.366	0.17310	T	.	.	0.072	0.04119	B	.;.;.	.;.;.	1.318533	0.17221	13.03	0.91838768534996684	0.21149	0.20111	0.20919	N	AEFDGBHCI	0.276280	0.39105	N	-0.961613878613343	0.09433	0.4464288	-0.897019843420712	0.12164	0.6241355	0.999842134666351	0.43971	0.554377	0.28877	0	0.588066	0.40923	0	0.514498	0.09550	1	0.613276	0.41899	0	.	.	5.38	-2.88	0.05342	0.352000	0.19851	0.791000	0.21569	0.731000	0.85647	0.004000	0.16614	0.011000	0.20116	0.944000	0.48669	0.2443:0.0:0.7557:0.0	13.166	0.58992	315	0.87208	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	797.43	37	chr15	65055125	.	A	T	797.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.421;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=-1.942;SOR=0.634	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr15	65102402	65102402	T	C	exonic	UBAP1L	.	nonsynonymous SNV	UBAP1L:NM_001163692:exon3:c.A403G:p.S135G	.	418	1098	6	0	0	6	0.0027248	.	.	.	2197351	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00568327068346	.	.	0.0008	0	0	0	.	0	0	0.0013	8.41e-05	13	154602	rs773638566	0.0010	0.0010	0.0010	0.0010	0.0057	0.0010	0.0010	0.0039	0.0033	0.0001	0.0006	5.384e-05	0	0.0001	0.0057	0.0011	0.0009	0.0009	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0004	0.0007	0.0007	0.0002	0	0.0006	0	0.0002	0	0	0.0009	0.0014	0.0012	0.051	0.39334	T	0.046	0.49120	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-1.27	0.31981	N	0.039	0.01347	-1.0264	0.21625	T	0.038	0.16548	T	8	0.014065087	0.00297	T	0.005683	0.14712	T	0.029	0.06676	.	.	0.0138822411134	0.00435	0.3004782983231865	0.29960	.	.	0.559719145298	0.47228	T	0.021553	0.16761	T	-0.603317	0.00139	T	-0.71866	0.04861	T	0.0187972239776742	0.00591	T	0.244976	0.03588	T	0.0375763	0.04843	0.04689363	0.06637	0.0375763	0.04843	0.04689363	0.06636	-3.762	0.20238	T	.	.	0.074	0.05103	B	.;.	.;.	0.465780	0.08354	5.106	0.78436377883704145	0.12300	0.06333	0.12331	N	AEFDBI	0.091053	0.18447	N	-1.33786640273286	0.03252	0.1449633	-1.39457716170517	0.03309	0.1541126	0.999952352421175	0.48110	0.554377	0.28877	0	0.588066	0.40923	0	0.606814	0.37721	0	0.613276	0.41899	0	.	.	2.92	-1.09	0.09397	-0.177000	0.09789	-0.088000	0.12093	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1696:0.2077:0.1745:0.4482	0.580	0.00664	502	0.75873	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004950	0.000000	0.000000	0.012500	0.000000	0.023810	0.000000	0.000000	0.05	151.43	24	chr15	65102402	.	T	C	151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.198;DP=250;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=0.614;SOR=1.022	GT:AD:DP:GQ:PL	0/0:17,0:17:45:0,45,675	9	0	1	0
chr15	65266665	65266665	T	C	exonic	PARP16	.	nonsynonymous SNV	PARP16:NM_001316943:exon3:c.A416G:p.Y139C,PARP16:NM_017851:exon3:c.A416G:p.Y139C	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00994066119168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs770333678	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.04	0.50809	D	0.93	0.53072	P	0.216	0.41795	B	0.038625	0.24263	N	0.459943	0.944949	0.81001	D	0	0.06538	N	2.61	0.13095	T	-1.78	0.42001	N	0.371	0.41261	-1.0504	0.14285	T	0.024	0.10284	T	10	0.20623076	0.36877	T	0.009941	0.25878	T	0.060	0.17295	0.366	0.37361	0.451977122513	0.44822	0.6483601879063161	0.64772	0.515807656185	0.49477	0.379030883312	0.22120	T	0.065103	0.32604	T	-0.22254	0.17649	T	-0.460585	0.26535	T	0.461909426115053	0.31234	T	0.914809	0.69637	D	0.27755505	0.50813	0.1842789	0.41470	0.27755505	0.50813	0.1842789	0.41469	0.293	0.00260	T	.	.	0.066	0.02091	B	.;.	.;.	3.507752	0.49109	22.7	0.99427800203963668	0.64081	0.89020	0.49241	D	AEFI	0.209946	0.33588	N	0.215505339318811	0.51951	3.372491	0.324966666712177	0.57011	3.865541	0.968211562823689	0.29035	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.58	5.58	0.84361	3.423000	0.52517	3.476000	0.38615	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.16:0.84	11.560	0.50023	564	0.70960	.;Poly(ADP-ribose) polymerase, catalytic domain|Poly(ADP-ribose) polymerase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	782.43	77	chr15	65266665	.	T	C	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.259;DP=389;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=-0.577;SOR=0.841	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1088	9	0	1	0
chr15	65402468	65402468	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon4:c.G583A:p.G195S	.	394	1127	1	0	0	1	0.000443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.913	0.466944207722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs931572696	7.916e-05	7.935e-05	9.219e-05	6.582e-05	0.0001	6.706e-05	6.272e-05	8.49e-05	7.895e-05	3.054e-05	0	0	0	0	0	0.0001	3.406e-05	0	1.971e-05	1.97e-05	2.57e-05	1.345e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.066	0.36113	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-1.55	0.81727	D	-5.72	0.87531	D	0.814	0.80964	0.509	0.90670	D	0.696	0.89532	D	10	0.90235984	0.89598	D	0.466944	0.94613	D	0.913	0.97700	.	.	0.643109767165	0.64016	0.7710646631867997	0.77055	0.380123273154	0.39380	0.612001001835	0.54600	T	0.189802	0.54414	T	0.344676	0.86148	D	0.257327	0.85965	D	0.970153391361237	0.68847	D	0.915608	0.69895	D	0.49349478	0.66710	0.47316644	0.69462	0.49349478	0.66711	0.47316644	0.69462	-5.194	0.38881	T	.	.	0.462	0.62806	A	.	.	6.557413	0.95399	35	0.9987945934155914	0.95572	0.97813	0.77322	D	AEFBI	0.797057	0.72401	D	0.766620868591508	0.83984	8.162427	0.738154097175784	0.85270	8.530607	0.999999999998348	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	7.477000	0.80071	7.591000	0.61250	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	17.445	0.87468	457	0.78953	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1507.43	35	chr15	65402468	.	C	T	1507.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.38;DP=440;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.988;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1061	9	0	1	0
chr15	65422850	65422850	C	T	exonic	IGDCC4	.	nonsynonymous SNV	IGDCC4:NM_020962:exon1:c.G13A:p.D5N	.	388	1123	10	1	0	12	0.00531444	.	.	.	2342982	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.499858347004	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs755306114	0.0005	0.0006	0.0005	0.0006	0.0063	0.0005	0.0005	0.0055	0.0052	9.634e-05	0.0006	0.0012	8.899e-05	0.0001	0.0030	0.0003	0.0009	0.0063	0.0005	0.0005	0.0005	0.0005	0.0037	0.0004	0.0004	0.0024	0.0020	4.865e-05	0	0.0002	0.0003	0	0	0	0.0008	0	0.0037	0.229	0.18371	T	0.0	0.92824	D	0.98	0.59353	D	0.811	0.58656	P	0.404216	0.04553	U	1.609780	0.996631	0.22952	N	0.345	0.11182	N	0.05	0.61923	T	0.12	0.05604	N	0.1	0.08227	-0.8152	0.54232	T	0.226	0.59032	T	10	0.068186134	0.09608	T	0.499858	0.95135	D	0.146	0.38789	.	.	0.580477355671	0.57718	0.2015461539111955	0.20071	0.0587796702461	0.06521	0.880768299103	0.94064	D	0.004381	0.03788	T	-0.533063	0.00368	T	-0.604605	0.12427	T	0.471055365374205	0.31570	T	0.39496	0.09912	T	0.083695285	0.19338	0.05967752	0.11241	0.083695285	0.19338	0.05967752	0.11241	-5.358	0.40513	T	.	.	0.205	0.43130	B	.	.	2.121465	0.27001	17.31	0.99345328073515093	0.60371	0.48887	0.28308	N	AEFDBHCIJ	0.097957	0.19748	N	0.02095915820701	0.42809	2.586375	-0.043797544581025	0.37760	2.215268	0.999999852373888	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.171818	0.04044	3	0.554799	0.18163	0	.	.	2.32	2.32	0.27895	0.271000	0.18390	-0.176000	0.11179	0.412000	0.20661	0.013000	0.18845	0.013000	0.20296	0.802000	0.37819	0.0:1.0:0.0:0.0	7.843	0.28569	455	0.79073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	75.44	8	chr15	65422850	.	C	T	75.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=131;ExcessHet=0;FS=2.363;InbreedingCoeff=-0.0538;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.39;ReadPosRankSum=0.638;SOR=1.609	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,544	9	0	1	0
chr15	65463858	65463858	G	T	exonic	DPP8	.	nonsynonymous SNV	DPP8:NM_001320876:exon15:c.C1874A:p.T625N,DPP8:NM_017743:exon15:c.C1874A:p.T625N,DPP8:NM_130434:exon15:c.C1874A:p.T625N,DPP8:NM_001320875:exon16:c.C1922A:p.T641N,DPP8:NM_197960:exon16:c.C1922A:p.T641N,DPP8:NM_197961:exon16:c.C1922A:p.T641N	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0035890453029	0.0018	0.000199681	0.0018	0.0002	0.0013	0	0.0003	0.0027	0.0045	0.0009	0.0015847	245	154602	rs142999124	0.0013	0.0014	0.0013	0.0014	0.0097	0.0013	0.0013	0.0076	0.0069	0.0008	0.0009	0.0176	0	0.0002	0.0097	0.0010	0.0027	0.0011	0.0012	0.0012	0.0013	0.0010	0.0013	0.0010	0.0010	0.0011	0.0010	0.0001	0	0.0008	0.0181	0	0.0002	0.0034	0.0013	0.0019	0.0010	0.18	0.28646	T	0.111	0.37173	T	0.002	0.38282	B	0.007	0.32546	B	0.002144	0.37138	N	0.216685	0.578254	0.31121	N	0.77	0.19370	N	0.95	0.43279	T	-0.81	0.22727	N	0.175	0.38027	-0.9997	0.30002	T	0.063	0.26244	T	10	0.0043184757	0.00087	T	0.003589	0.08216	T	0.018	0.03083	.	.	0.182106788282	0.17826	0.6628880508816588	0.66225	1.19930797931	0.80486	0.644894361496	0.59260	T	0.160313	0.50411	T	-0.493858	0.00619	T	-0.501183	0.22226	T	0.00935596916476624	0.00119	T	0.886111	0.61533	D	0.14589919	0.33424	0.10668424	0.25671	0.14589919	0.33423	0.10668424	0.25670	-5.961	0.46171	T	.	.	0.073	0.07365	B	.;.;.;.;.	.;.;.;.;.	3.759839	0.53945	23.4	0.98265554205842176	0.39713	0.89662	0.50270	D	AEFBI	0.386611	0.46691	N	0.00754157976083478	0.42198	2.53802	0.231519692596689	0.51603	3.341568	0.14871461698722	0.17403	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	4.833000	0.62456	11.772000	0.95887	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1383:0.8617:0.0	15.416	0.74694	450	0.79359	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.005051	0.016304	0.023392	0.000000	0.043103	0.015244	0.015152	0.05	696.43	34	chr15	65463858	.	G	T	696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.262;DP=401;ExcessHet=0;FS=3.331;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.051;SOR=1.139	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr15	65564320	65564320	C	T	exonic	HACD3	.	nonsynonymous SNV	HACD3:NM_016395:exon7:c.C638T:p.P213L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0315688328465	.	0.000199681	0.0001	0	0	0.0001	0.0005	0	0.0011	0.0005	9.06e-05	14	154602	rs570046325	6.501e-05	6.567e-05	4.493e-05	8.529e-05	0.0008	5.43e-05	5.043e-05	0.0006	0.0006	0	8.958e-05	0	0	0.0001	0.0002	1.439e-05	1.656e-05	0.0008	6.568e-05	6.563e-05	5.141e-05	8.059e-05	0.0006	3.515e-05	2.615e-05	0.0002	8.992e-05	2.408e-05	0	0.0003	0	0	0	0	2.94e-05	0	0.0006	0.685	0.46513	T	0.13	0.46182	T	0.997	0.70673	D	0.837	0.59984	P	0.000370	0.45194	D	0.235877	0.999999	0.58761	D	2.36	0.67893	M	1.41	0.33412	T	-2.91	0.62343	D	0.613	0.66529	-0.8173	0.54102	T	0.177	0.52146	T	10	0.35177302	0.52020	T	0.031569	0.53618	D	0.360	0.68052	0.68	0.81788	0.388970301349	0.38507	0.5845023449730615	0.58380	0.429269928717	0.43224	0.476957798004	0.35638	T	0.233082	0.65518	T	-0.30192	0.08479	T	-0.302714	0.44438	T	0.594726264476776	0.36192	D	0.893711	0.63166	D	0.20761906	0.42973	0.21122532	0.45542	0.20761906	0.42973	0.21122532	0.45541	-8.995	0.68536	D	.	.	0.251	0.50708	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.291523	0.65449	24.8	0.98901437972843609	0.48199	0.98522	0.83679	D	AEFBI	0.762102	0.69962	D	0.505184646713301	0.67396	5.076041	0.40169549094758	0.61669	4.370462	0.999654846492656	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	6.252000	0.72400	4.858000	0.45442	0.596000	0.33519	1.000000	0.71638	0.998000	0.33993	0.029000	0.12982	0.0:0.8643:0.1357:0.0	15.742	0.77670	589	0.68969	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	838.43	37	chr15	65564320	.	C	T	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=401;ExcessHet=0;FS=4.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-0.394;SOR=0.306	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	9	0	1	0
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N,SLC24A1:NM_001301032:exon1:c.G423C:p.K141N,SLC24A1:NM_004727:exon2:c.G423C:p.K141N,SLC24A1:NM_001301033:exon4:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	209.43	34	chr15	65624503	.	G	C	209.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.486;DP=527;ExcessHet=0;FS=117.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=3.68;SOR=5.417	GT:AD:DP:GQ:PL	0/1:104,21:134:99:221,0,3435	9	0	1	0
chr15	65625539	65625539	A	G	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.A1459G:p.K487E,SLC24A1:NM_001301032:exon1:c.A1459G:p.K487E,SLC24A1:NM_004727:exon2:c.A1459G:p.K487E,SLC24A1:NM_001301033:exon4:c.A1459G:p.K487E	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1011567	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.441	0.0671492472665	.	.	8.28e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs745977526	3.421e-06	3.42e-06	5.445e-06	1.375e-06	3.598e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.598e-06	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.096	0.34800	T	0.005	0.76473	D	0.989	0.90584	D	0.98	0.92359	D	0.000000	0.84330	D	0.000000	0.999991	0.81001	D	2.07	0.56829	M	-0.02	0.62918	T	-3.84	0.72240	D	0.791	0.81162	-0.0796	0.80562	T	0.448	0.78348	T	10	0.6029446	0.67015	D	0.067149	0.70084	D	0.441	0.74447	0.261	0.20473	0.874030273633	0.87280	0.7647063837806078	0.76419	0.876422331603	0.69590	0.733593821526	0.72031	T	0.091415	0.74393	T	0.222876	0.76047	D	0.0823698	0.75737	D	0.990809440612793	0.81037	D	0.962504	0.86020	D	0.62241673	0.73893	0.54210067	0.73535	0.62241673	0.73894	0.54210067	0.73535	-8.498	0.64904	D	.	.	0.538	0.70641	A	.;.;.;.;.;.	.;.;.;.;.;.	4.372934	0.67337	25.1	0.99816912920290091	0.90061	0.99391	0.95423	D	AEFBI	0.859937	0.77771	D	0.817721078587391	0.87202	9.136921	0.799048345361949	0.89726	10.09575	0.9999999997764	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.86	5.86	0.93936	7.304000	0.78201	11.283000	0.91806	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.415	0.74686	619	0.66147	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;.;Sodium/calcium exchanger membrane region;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2246.43	34	chr15	65625539	.	A	G	2246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.289;DP=554;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.042;SOR=0.592	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr15	65691296	65691296	T	G	exonic	DENND4A	.	nonsynonymous SNV	DENND4A:NM_001376920:exon21:c.A3166C:p.I1056L,DENND4A:NM_001376919:exon22:c.A3166C:p.I1056L,DENND4A:NM_005848:exon22:c.A3166C:p.I1056L,DENND4A:NM_001144823:exon23:c.A3295C:p.I1099L,DENND4A:NM_001320835:exon23:c.A3298C:p.I1100L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00336841316767	8.5e-05	.	2.514e-05	0	0	0	0	4.548e-05	0	0	1.94e-05	3	154602	rs372043519	4.38e-05	4.378e-05	4.222e-05	4.541e-05	0.0007	3.511e-05	3.195e-05	0.0002	0.0001	0	0	0	0	0	0.0007	4.768e-05	0.0001	0	4.599e-05	4.596e-05	6.423e-05	2.689e-05	8.821e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	2.412e-05	0	0	0	0	0	0	8.821e-05	0	0	0.039	0.42487	D	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.169605	0.17414	N	0.578011	0.887412	0.29764	N	1.795	0.47270	L	3.51	0.04959	T	-0.07	0.08033	N	0.351	0.39254	-1.0324	0.19681	T	0.015	0.06042	T	10	0.14177126	0.26935	T	0.003368	0.07542	T	0.069	0.20116	0.656	0.79379	0.282179105231	0.27821	0.29439488876488223	0.29352	0.090661905353	0.10232	0.313295722008	0.12405	T	0.017513	0.14276	T	-0.271432	0.11597	T	-0.520013	0.20293	T	0.40832793712616	0.29255	T	0.871313	0.57716	D	0.13907866	0.32140	0.12586878	0.30323	0.13907866	0.32140	0.12586878	0.30322	-2.887	0.09406	T	.	.	0.101	0.18991	B	.;.;.	.;.;.	3.357768	0.46347	22.3	0.97171115797481489	0.32678	0.98714	0.85918	D	AEFBI	0.453193	0.50643	N	-0.217963407289513	0.32396	1.826605	-0.0411291084470815	0.37877	2.223717	0.999999572311808	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	4.81	4.81	0.61401	6.674000	0.74324	6.102000	0.53564	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.814	0.69641	693	0.58582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2459.43	170	chr15	65691296	.	T	G	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.7;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.29;SOR=0.69	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr15	65913784	65913784	G	C	exonic	MEGF11	.	nonsynonymous SNV	MEGF11:NM_001385030:exon18:c.C2438G:p.S813C,MEGF11:NM_001385031:exon19:c.C2423G:p.S808C,MEGF11:NM_001385032:exon19:c.C2423G:p.S808C,MEGF11:NM_001385033:exon19:c.C2534G:p.S845C,MEGF11:NM_001385028:exon20:c.C2663G:p.S888C,MEGF11:NM_001385029:exon20:c.C2663G:p.S888C,MEGF11:NM_032445:exon20:c.C2663G:p.S888C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.109938499724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.003	0.76473	D	0.998	0.90584	D	0.885	0.72001	P	0.000814	0.41658	U	0.000000	0.999869	0.81001	D	2.125	0.59049	M	-2.26	0.87352	D	-3.3	0.65858	D	0.85	0.84609	0.569	0.91491	D	0.727	0.90669	D	10	0.83059454	0.82223	D	0.109938	0.78711	D	0.646	0.86586	0.438	0.49157	0.626855883447	0.62381	0.6240186175572482	0.62334	0.128676360434	0.14503	0.796688139439	0.81459	T	0.27571	0.64826	T	0.210473	0.74874	D	0.0645531	0.74548	D	0.971769213676453	0.69441	D	0.805419	0.50011	T	0.26768422	0.49841	0.18743196	0.41974	0.26768422	0.49841	0.18743196	0.41974	-10.592	0.77374	D	.	.	0.421	0.60704	A	.;.;.;.	.;.;.;.	4.369525	0.67261	25.1	0.99196619681541931	0.55142	0.98902	0.88388	D	AEFBI	0.913207	0.87487	D	0.729320840263908	0.81553	7.549615	0.716489136622545	0.83632	8.072624	0.999999999882069	0.74766	0.660377	0.49826	0	0.546412	0.12157	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	4.65	4.65	0.57626	9.254000	0.94700	11.780000	0.96086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.0:1.0:0.0	17.712	0.88232	186	0.92733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2868.12	34	chr15	65913784	.	G	C	2868.12	.	AC=2;AF=0.1;AN=20;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.51;SOR=1.143	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	9	1	0	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	266.46	90	chr15	66326260	.	C	G	266.46	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.856;DP=743;ExcessHet=0.7463;FS=266.576;InbreedingCoeff=-0.1768;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.922;SOR=9.289	GT:AD:DP:GQ:PL	0/0:67,0:67:95:0,95,1854	7	0	3	0
chr15	66781375	66781375	C	T	exonic	SMAD6	.	nonsynonymous SNV	SMAD6:NM_005585:exon4:c.C1331T:p.S444L	Aortic valve disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3849013	Aortic_valve_disease_2|Inborn_genetic_diseases	MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.858	0.491530417101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199885442	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.012	0.63918	D	0.995	0.67487	D	0.805	0.58399	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.52	0.73523	M	-4.14	0.96772	D	-3.09	0.63438	D	0.733	0.73375	1.040	0.97900	D	0.921	0.97385	D	10	0.89244735	0.88590	D	0.49153	0.95007	D	0.858	0.95655	0.625	0.76028	0.927563851712	0.92682	0.5950081569968436	0.59430	0.828958284525	0.67545	0.6839402318	0.64834	T	0.954943	0.99376	D	0.314943	0.84109	D	0.402428	0.92192	D	0.930149376392365	0.59466	D	0.674733	0.28305	T	0.6358178	0.74608	0.5570642	0.74379	0.6358178	0.74609	0.5570642	0.74379	-6.64	0.51357	T	0.35676913442332564	0.45356	0.188	0.40570	B	.	.	4.653505	0.74205	26.1	0.99813966922342334	0.89797	0.98283	0.81242	D	AEFDGBCI	0.955850	0.97398	D	0.647180012819052	0.76187	6.440285	0.676644238602902	0.80607	7.336956	1.0	0.98316	0.562547	0.31514	0	0.573888	0.26702	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	7.807000	0.84584	2.610000	0.33572	0.469000	0.21855	1.000000	0.71638	0.991000	0.31484	0.972000	0.54974	0.0:1.0:0.0:0.0	19.650	0.95793	424	0.81215	SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-type|SMAD domain, Dwarfin-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1025.43	34	chr15	66781375	.	C	T	1025.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=395;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=0.629;SOR=0.944	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1037,0,847	9	0	1	0
chr15	67236015	67236015	C	T	exonic	AAGAB	.	nonsynonymous SNV	AAGAB:NM_001271885:exon4:c.G88A:p.V30I,AAGAB:NM_001271886:exon4:c.G88A:p.V30I,AAGAB:NM_024666:exon4:c.G415A:p.V139I	Keratoderma, palmoplantar, punctate type IA, Autosomal dominant	13	1501	7	1	0	9	0.00298904	.	.	.	1442434	Palmoplantar_keratoderma,_punctate_type_1A|not_provided	MONDO:MONDO:0007858,MedGen:CN031225,OMIM:148600,Orphanet:79501|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.327	0.0471669953297	0.0004	0.000798722	0.0008	0.0001	8.64e-05	0	0	0.0010	0.0011	0.0016	0.0007244	112	154602	rs138601241	0.0005	0.0005	0.0005	0.0006	0.0026	0.0005	0.0005	0.0016	0.0015	8.964e-05	0.0002	0.0029	0	7.497e-05	0.0026	0.0004	0.0007	0.0018	0.0004	0.0004	0.0005	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	0	0.0044	0.0001	0.0014	0	0	0.0034	0.0007	0	0.0014	0.291	0.91255	T	0.149	0.33780	T	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.07	0.56829	M	-1.29	0.79475	T	-0.33	0.15782	N	0.879	0.87699	0.083	0.83866	D	0.652	0.87885	D	10	0.027752995	0.00916	T	0.047167	0.62796	D	0.327	0.64926	.	.	0.89380241201	0.89275	0.33751851136880145	0.33664	0.0809506791772	0.09113	0.592890322208	0.51903	T	0.026423	0.23030	T	-0.12214	0.32774	T	0.0385473	0.72832	D	0.0906381961433819	0.11294	T	0.89481	0.65783	D	0.10610521	0.25089	0.14053124	0.33496	0.10610521	0.25089	0.14053124	0.33495	-8.511	0.64502	D	.	.	0.153	0.42477	B	.;.;.;.	.;.;.;.	4.499444	0.70358	25.5	0.99858840836375173	0.93729	0.98663	0.85295	D	AEFGBI	0.827474	0.74676	D	0.729908545981298	0.81593	7.558748	0.720851368283199	0.83963	8.161448	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.48	5.48	0.80675	7.218000	0.77483	7.691000	0.65788	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.702	0.96054	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.005051	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	2145.43	36	chr15	67236015	.	C	T	2145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.716;DP=485;ExcessHet=0;FS=7.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=0.389;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1235:.	9	0	1	0
chr15	67521275	67521275	G	T	exonic	C15orf61	.	nonsynonymous SNV	C15orf61:NM_001143936:exon1:c.G27T:p.E9D	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.000998403	0.0369	0	.	.	.	0.0526	0	0.0341	0.0003363	52	154602	rs560365405	0.0009	0.0009	0.0008	0.0010	0.0059	0.0009	0.0008	0.0055	0.0053	0.0002	0.0005	0.0049	0	9.706e-05	0.0010	0.0006	0.0015	0.0059	0.0005	0.0005	0.0005	0.0005	0.0064	0.0004	0.0004	0.0047	0.0041	9.653e-05	0	6.555e-05	0.0049	0	0	0	0.0003	0	0.0064	0.268	0.16144	T	0.522	0.10391	T	0.906	0.49993	P	0.325	0.41883	B	0.250650	0.15517	N	0.561164	0.903981	0.27645	N	1.935	0.51832	L	.	.	.	-0.73	0.20576	N	0.125	0.11769	-1.0847	0.06462	T	0.088	0.34133	T	9	0.0040792823	0.00080	T	.	.	.	0.059	0.16972	0.263	0.20788	0.0297737177859	0.01360	0.3688704884610712	0.36801	.	.	.	.	.	0.021051	0.16461	T	-0.479166	0.00748	T	-0.457619	0.26858	T	0.0560981555582796	0.06541	T	0.542646	0.18460	T	0.0759986	0.17159	0.09170011	0.21573	0.0759986	0.17159	0.09170011	0.21572	-3.544	0.17053	T	.	.	0.163	0.36053	B	.	.	1.824539	0.23182	15.92	0.93696960788483574	0.23607	0.90747	0.52185	D	ALL	0.100375	0.20184	N	-0.366012322464783	0.26688	1.458449	-0.418579833400431	0.24452	1.339055	0.999999999998771	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.6	2.68	0.30839	0.402000	0.20690	6.957000	0.57044	-0.190000	0.09434	0.954000	0.33273	1.000000	0.68203	0.035000	0.13729	0.1796:0.1528:0.6676:0.0	6.327	0.20455	475	0.77788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	275.43	21	chr15	67521275	.	G	T	275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.313;DP=245;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.049;SOR=0.941	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,590	9	0	1	0
chr15	67827308	67827308	G	A	exonic	SKOR1	.	nonsynonymous SNV	SKOR1:NM_001365915:exon2:c.G1480A:p.A494T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.179906338612	.	.	3.886e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs776400578	2.224e-05	3.147e-05	1.661e-05	2.792e-05	0.0003	1.609e-05	1.377e-05	0.0002	0.0002	0	0	0	0	0	0	0	5.009e-05	0.0003	6.598e-06	6.573e-06	0	1.351e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.407	0.11191	T	0.441	0.14200	T	.	.	.	.	.	.	0.569207	0.11256	N	0.762936	0.725367	0.81001	D	0.425	0.12573	N	1.88	0.23884	T	-0.31	0.12099	N	0.208	0.29429	-1.0517	0.13926	T	0.024	0.10419	T	10	0.049054444	0.04441	T	0.179906	0.85454	D	0.090	0.26093	.	.	0.128392430309	0.12331	.	.	.	.	.	.	.	0.009209	0.08534	T	-0.387006	0.02812	T	-0.473674	0.25121	T	0.0586435166123866	0.06953	T	0.730627	0.34608	T	0.124358214	0.29180	0.14639972	0.34686	0.124358214	0.29180	0.14639972	0.34685	-4.33	0.28596	T	.	.	0.114	0.22789	B	.;.;.	.;.;.	3.491124	0.48798	22.7	0.9964955424096078	0.77192	0.73152	0.35786	D	AEFDBHCI	.	.	.	-0.528430971458551	0.21165	1.121244	-0.426558580198497	0.24221	1.325163	0.999999625289834	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.12	3.12	0.34986	2.378000	0.43964	7.700000	0.66237	0.482000	0.22156	0.257000	0.24919	1.000000	0.68203	0.908000	0.44358	0.0:0.0:1.0:0.0	11.713	0.50902	340	0.86005	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	837.43	39	chr15	67827308	.	G	A	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.253;DP=403;ExcessHet=0;FS=3.557;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=1.17;SOR=0.353	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,111,1074	9	0	1	0
chr15	69256054	69256054	A	G	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324091:exon3:c.A248G:p.K83R,GLCE:NM_015554:exon3:c.A248G:p.K83R,GLCE:NM_001324093:exon4:c.A248G:p.K83R,GLCE:NM_001324094:exon4:c.A248G:p.K83R	.	429	1092	1	0	0	1	0.000457666	.	.	.	714572	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0094	0.0121805	0.0031	0.0302	0.0023	0	0	0.0005	0.0022	0.0002	0.0030853	477	154602	rs61746980	0.0013	0.0013	0.0015	0.0012	0.0321	0.0013	0.0013	0.0305	0.0298	0.0321	0.0032	0.0007	0	0	0.0019	0.0005	0.0028	0.0005	0.0100	0.0100	0.0103	0.0097	0.0324	0.0096	0.0094	0.0309	0.0303	0.0324	0	0.0078	0.0006	0	9.411e-05	0.0068	0.0005	0.0076	0.0004	0.214	0.28772	T	0.487	0.11656	T	0.001	0.07471	B	0.001	0.04355	B	0.000001	0.84330	D	0.094194	0.700816	0.34575	D	0.755	0.19153	N	1.48	0.31731	T	-0.19	0.09965	N	0.063	0.10056	-1.0441	0.16089	T	0.009	0.03096	T	10	0.002390802	0.00035	T	.	.	.	0.074	0.21613	.	.	0.465806656444	0.46208	0.39450988241106466	0.39365	0.319701965432	0.34168	0.433156967163	0.29640	T	0.333894	0.70370	T	-0.607302	0.00132	T	-0.622126	0.11018	T	0.0199262231920127	0.00693	T	0.754824	0.37774	T	0.13466361	0.31281	0.09052559	0.21232	0.13466361	0.31280	0.09052559	0.21232	-3.847	0.21508	T	.	.	0.088	0.11701	B	.;.	.;.	2.300044	0.29432	18.12	0.99491247469827204	0.67460	0.94950	0.62896	D	AEFDGBHI	0.244580	0.36566	N	-0.379095534821612	0.26215	1.429028	-0.172567938165722	0.32550	1.852965	0.999897900488652	0.45129	0.743674	0.98306	0	0.588015	0.36545	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	5.3	2.99	0.33673	3.963000	0.56480	4.180000	0.42331	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.8396:0.0:0.1604:0.0	8.566	0.32703	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.025253	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2247.43	41	chr15	69256054	.	A	G	2247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.323;DP=519;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=1.23;SOR=0.691	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1156	9	0	1	0
chr15	69268342	69268342	C	T	exonic	GLCE	.	nonsynonymous SNV	GLCE:NM_001324092:exon4:c.C181T:p.L61F,GLCE:NM_015554:exon5:c.C952T:p.L318F,GLCE:NM_001324093:exon6:c.C952T:p.L318F,GLCE:NM_001324094:exon6:c.C952T:p.L318F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00961212537353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.07473	T	0.673	0.06245	T	0.294	0.32391	B	0.039	0.23607	B	0.000014	0.62929	D	0.117299	0.97128	0.38859	D	1.67	0.42885	L	1.4	0.33630	T	-1.52	0.36980	N	0.229	0.26957	-1.0705	0.09304	T	0.071	0.28871	T	10	0.15230167	0.28770	T	0.009612	0.25130	T	0.062	0.17934	0.296	0.26041	0.385743280973	0.38186	0.1818463035224681	0.18103	0.496296462645	0.48146	0.511974096298	0.40498	T	0.594481	0.86912	D	-0.158924	0.26926	T	-0.46606	0.25943	T	0.38704913854599	0.28452	T	0.921108	0.71398	D	0.32328933	0.54916	0.21315694	0.45815	0.32328933	0.54916	0.21315694	0.45814	-5.327	0.40209	T	.	.	0.110	0.21125	B	.;.	.;.	2.142935	0.27288	17.41	0.98237384910952541	0.39449	0.91461	0.53581	D	AEFBI	0.372078	0.45785	N	-0.00556309749470511	0.41602	2.491405	0.150399244644302	0.47162	2.951	0.999953326985891	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	3.119000	0.50115	3.363000	0.37875	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1639:0.8361:0.0:0.0	12.781	0.56857	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	812.43	35	chr15	69268342	.	C	T	812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.04;ReadPosRankSum=-0.952;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1161	9	0	1	0
chr15	69360111	69360113	AGC	-	exonic	PAQR5	.	nonframeshift deletion	PAQR5:NM_001104554:exon3:c.31_33del:p.S11del,PAQR5:NM_017705:exon3:c.31_33del:p.S11del	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0006	0	0	0	0	0	0.0022	0.0039	0.0004851	75	154602	rs563457843	0.0002	0.0002	9.939e-05	0.0003	0.0034	0.0002	0.0002	0.0031	0.0030	0	0	0	0	0	0	8.995e-07	0.0002	0.0034	0.0001	0.0001	5.14e-05	0.0002	0.0035	7.572e-05	6.278e-05	0.0022	0.0018	0	0	0	0	0	0	0	1.47e-05	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2789.39	38	chr15	69360110	.	TAGC	T	2789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.461;DP=464;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.11;ReadPosRankSum=0.065;SOR=0.532	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1196	9	0	1	0
chr15	69417444	69417444	A	G	exonic	KIF23	.	nonsynonymous SNV	KIF23:NM_001367804:exon3:c.A143G:p.N48S,KIF23:NM_001367805:exon3:c.A143G:p.N48S,KIF23:NM_004856:exon3:c.A143G:p.N48S,KIF23:NM_138555:exon3:c.A143G:p.N48S	.	428	1080	13	1	0	15	0.00689655	.	.	.	726218	not_provided|KIF23-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	.	0.0002	0.00279553	0.0015	0	0.0011	0	0	0.0004	0	0.0085	0.0013583	210	154602	rs192879947	0.0008	0.0008	0.0005	0.0011	0.0090	0.0008	0.0008	0.0085	0.0083	2.987e-05	0.0009	0.0027	5.042e-05	0	0.0061	0.0002	0.0014	0.0090	0.0006	0.0007	0.0005	0.0008	0.0091	0.0005	0.0005	0.0070	0.0062	0	0	0.0008	0.0026	0	0	0	0.0005	0.0014	0.0091	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.000061	0.52346	N	0.195620	0.993113	0.41840	D	-0.625	0.02162	N	-0.65	0.72237	T	0.5	0.02945	N	0.08	0.09631	-1.0807	0.07214	T	0.080	0.31615	T	10	0.0034461617	0.00061	T	.	.	.	0.152	0.39956	.	.	0.464821819423	0.46108	0.07012807034508808	0.06949	0.204006883498	0.22813	0.32368850708	0.13980	T	0.072884	0.47995	T	-0.571309	0.00217	T	-0.5866	0.13961	T	0.00738361362388325	0.00085	T	0.908809	0.68959	D	0.04059446	0.05823	0.045613233	0.06176	0.04407965	0.06984	0.04123185	0.04640	-2.56	0.06405	T	0.05705794585674227	0.01363	0.052	0.00428	B	.;.;.;.;.	.;.;.;.;.	0.044819	0.04601	1.272	0.81720292598187994	0.13826	0.07565	0.13576	N	AEFDBI	0.061391	0.11733	N	-1.14284557801011	0.05898	0.2701298	-1.10135828127927	0.07674	0.3742358	0.999757453963553	0.42595	0.719381	0.83141	0	0.662677	0.63036	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.43	-2.13	0.06745	0.152000	0.16120	0.770000	0.21388	0.756000	0.94297	0.033000	0.20612	0.433000	0.24865	0.983000	0.59808	0.6308:0.0:0.3692:0.0	9.486	0.38098	866	0.32446	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.1	3016.12	35	chr15	69417444	.	A	G	3016.12	.	AC=2;AF=0.1;AN=20;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.19;SOR=0.872	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1242	9	1	0	0
chr15	70853953	70853953	G	A	exonic	LARP6	.	nonsynonymous SNV	LARP6:NM_018357:exon1:c.C136T:p.P46S,LARP6:NM_197958:exon1:c.C136T:p.P46S	.	400	1114	8	0	0	8	0.00357782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0891261160965	.	0.000399361	0.0025	0	0	0	.	0.0009	0	0.0034	0.000194	30	154602	rs550545328	0.0005	0.0005	0.0003	0.0006	0.0037	0.0004	0.0004	0.0033	0.0032	0.0001	0.0003	0.0001	0	0	0.0017	0.0003	0.0006	0.0037	0.0003	0.0003	0.0002	0.0004	0.0043	0.0002	0.0002	0.0029	0.0024	9.64e-05	0	0.0001	0.0003	0	0	0	0.0002	0.0010	0.0043	0.72	0.42487	T	0.659	0.20164	T	0.0	0.02946	B	0.0	0.01387	B	0.149363	0.02950	U	1.843720	1	0.18198	N	0.345	0.11182	N	1.02	0.40749	T	-0.11	0.90450	N	0.047	0.11626	-1.0665	0.10200	T	0.047	0.20116	T	10	0.004551798	0.00094	T	0.089126	0.75267	D	0.034	0.08419	0.177	0.08379	0.221890330934	0.21812	0.1984404551348924	0.19761	0.472386944088	0.46475	0.804862380028	0.82705	D	0.015969	0.13294	T	-0.557468	0.00263	T	-0.576277	0.14879	T	0.022757309517818	0.00994	T	0.531147	0.17633	T	0.066149004	0.14204	0.035109177	0.02701	0.066149004	0.14204	0.035109177	0.02701	-3.209	0.12640	T	.	.	0.069	0.31253	B	.;.	.;.	0.409846	0.07807	4.499	0.94994155415353054	0.25948	0.02761	0.07453	N	AEFDBHCI	0.046105	0.07619	N	-1.50616555196686	0.01809	0.07928242	-1.52758906322502	0.02134	0.09769164	0.999999959839904	0.74766	0.72623	0.87236	0	0.552344	0.17405	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	3.17	-1.62	0.07926	-1.111000	0.03414	0.035000	0.13787	-0.340000	0.05703	0.000000	0.06391	0.010000	0.20010	0.435000	0.27561	0.1221:0.1842:0.318:0.3757	1.395	0.02124	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001792	0.000000	0.000000	0.000000	0.000000	0.015625	0.004808	0.000000	0.05	325.43	40	chr15	70853953	.	G	A	325.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.797;DP=277;ExcessHet=0;FS=1.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.87;SOR=0.412	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,563	9	0	1	0
chr15	71811481	71811481	A	C	splicing	NR2E3	NM_014249:exon2:c.119-2A>C;NM_016346:exon2:c.119-2A>C	.	.	Enhanced S-cone syndrome, Autosomal recessive;Retinitis pigmentosa 37, Autosomal recessive, Autosomal dominant	2	1518	1	1	0	3	0.000987167	.	.	YES	188865	Retinal_dystrophy|not_specified|not_provided|Visual_impairment|Horizontal_nystagmus|Color_vision_defect|Enhanced_S-cone_syndrome|Retinitis_pigmentosa_37|Inborn_genetic_diseases|Goldmann-Favre_syndrome|Cone-rod_dystrophy|Retinitis_pigmentosa|NR2E3-related_disorder|Ocular_albinism	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000505,Human_Phenotype_Ontology:HP:0000516,Human_Phenotype_Ontology:HP:0000566,Human_Phenotype_Ontology:HP:0007860,Human_Phenotype_Ontology:HP:0007983,MedGen:C3665347|Human_Phenotype_Ontology:HP:0000666,MedGen:C0271385|Human_Phenotype_Ontology:HP:0000551,MedGen:C0234629|MONDO:MONDO:0100288,MedGen:C1849394,OMIM:268100,Orphanet:53540|MONDO:MONDO:0012625,MedGen:C1970163,OMIM:611131,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100289,MedGen:C0339541,Orphanet:53540|Human_Phenotype_Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970,Orphanet:1872|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN239387|Human_Phenotype_Ontology:HP:0001107,Human_Phenotype_Ontology:HP:0007745,Human_Phenotype_Ontology:HP:0007837,MONDO:MONDO:0017304,MeSH:D016117,MedGen:C0078917,Orphanet:284804	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0004	0.0006	0	0	0	0.0007	0	0.0001	0.000194	30	154602	rs2723341	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0007	0.0007	0.0002	0.0001	0.0013	0	4.041e-05	0.0006	0.0008	0.0007	6.291e-05	0.0005	0.0005	0.0006	0.0004	0.0009	0.0004	0.0004	0.0007	0.0007	7.226e-05	0	0.0001	0.0017	0	0	0	0.0009	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.486155	0.00682	T	-0.531703	0.19118	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.054798	0.60130	24.2	0.93585304356508614	0.23434	0.76322	0.37423	D	AEFDGBI	.	.	.	0.612727978188276	0.73979	6.055322	0.33085623754199	0.57359	3.901529	0.991080041134912	0.32367	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.062806	0.01542	0	0.0954646	0.21411	3.69	3.69	0.41483	4.055000	0.57153	10.928000	0.84272	0.688000	0.82842	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.8869:0.0:0.1131:0.0	6.843	0.23157	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	931.43	41	chr15	71811481	.	A	C	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=456;ExcessHet=0;FS=0.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.187;SOR=0.827	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1273	9	0	1	0
chr15	71898076	71898076	G	C	exonic	MYO9A	.	nonsynonymous SNV	MYO9A:NM_006901:exon25:c.C4427G:p.P1476R	.	433	1033	53	3	0	59	0.0277647	.	.	.	703311	MYO9A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.138	.	0.0010	0.00898562	0.0044	0.0007	0.0011	0.0251	0	0.0011	0.0099	0.0130	0.0041138	636	154602	rs16956375	0.0024	0.0024	0.0020	0.0029	0.0274	0.0024	0.0024	0.0260	0.0255	0.0005	0.0008	0.0050	0.0274	1.873e-05	0.0210	0.0006	0.0053	0.0141	0.0021	0.0021	0.0019	0.0025	0.0257	0.0020	0.0019	0.0222	0.0208	0.0006	0	0.0008	0.0055	0.0257	0	0.0306	0.0007	0.0057	0.0141	0.005	0.63226	D	0.408	0.39340	T	0.047	0.21998	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-1.8	0.88767	D	-1.18	0.35597	N	0.1	0.11197	-0.7727	0.56709	T	0.202	0.55905	T	9	0.0030557215	0.00050	T	.	.	.	0.138	0.37187	.	.	0.158540857583	0.15491	0.26733313974931155	0.26646	0.106403839219	0.12028	0.22201526165	0.01430	T	0.016766	0.16317	T	-0.293858	0.09253	T	-0.175286	0.56958	T	0.0199499117669396	0.00696	T	0.768923	0.39853	T	0.060669936	0.12478	0.07894072	0.17728	0.036071613	0.04368	0.07383594	0.16088	-4.414	0.29746	T	.	.	0.092	0.23395	B	.;.;.;.	.;.;.;.	2.036404	0.25887	16.92	0.96495594025505538	0.30023	0.65211	0.32661	D	AEFGBI	0.135683	0.25610	N	-0.518906691549729	0.21468	1.13958	-0.464498217533983	0.23139	1.260332	0.514245987980211	0.21043	0.706548	0.73137	0	0.653731	0.59785	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.92	3.0	0.33773	4.144000	0.57825	5.633000	0.49123	0.676000	0.76740	0.861000	0.30630	1.000000	0.68203	0.964000	0.52637	0.2055:0.1305:0.6639:0.0	6.833	0.23103	921	0.19240	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012085	0.005051	0.004076	0.040936	0.000000	0.017241	0.009146	0.007576	0.05	1619.43	34	chr15	71898076	.	G	C	1619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.165;DP=443;ExcessHet=0;FS=4.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-1.648;SOR=1.091	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1631,0,1525	9	0	1	0
chr15	72221189	72221189	C	G	exonic	PKM	.	nonsynonymous SNV	PKM:NM_001206796:exon2:c.G188C:p.S63T,PKM:NM_001206798:exon2:c.G13C:p.A5P	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.581159818659	.	0.000199681	0.0018	0.0053	0	0	.	0.0033	0	0.0012	0.0001488	23	154602	rs546024325	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	3.168e-05	2.801e-05	0.0015	0	0	0.0005	9.463e-05	0.0002	0.0009	8.535e-05	8.53e-05	7.709e-05	9.399e-05	0.0004	4.953e-05	3.96e-05	7.287e-05	3.339e-05	0	0	0	0.0012	0	0	0	0.0001	0	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999961	0.58761	D	.	.	.	-6.36	0.99669	D	-0.32	0.12283	N	0.293	0.33140	0.726	0.93491	D	0.940	0.98037	D	8	0.008797348	0.00199	T	0.58116	0.96247	D	0.369	0.68844	0.05	0.00095	0.761641644283	0.75947	.	.	.	.	.	.	.	.	.	.	0.0570674	0.59244	T	0.232492	0.84790	D	0.0564586306667866	0.06600	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-2.878	0.08925	T	.	.	0.076	0.05890	B	.	.	2.117840	0.26958	17.30	0.99337339201919062	0.60012	0.65816	0.32865	D	AEFDBHCI	0.218192	0.34323	N	-0.632174880114968	0.17983	0.9300324	-0.581356363155171	0.19980	1.074386	0.999999219235307	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.575934	0.27490	0	0.508809	0.08732	0	.	.	4.57	-1.77	0.07551	0.169000	0.16457	0.061000	0.14131	-0.202000	0.08738	0.998000	0.41325	0.924000	0.28388	0.673000	0.33338	0.1551:0.4024:0.0:0.4425	4.272	0.10240	206	0.91974	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001543	0.000000	0.000000	0.006098	0.000000	0.000000	0.000000	0.000000	0.1	1612.14	33	chr15	72221189	.	C	G	1612.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.5;DP=482;ExcessHet=0.2348;FS=5.119;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.55;SOR=0.61	GT:AD:DP:GQ:PL	0/1:53,42:95:99:867,0,1229	8	0	2	0
chr15	72661342	72661342	G	A	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon8:c.G643A:p.V215M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00161308893799	.	.	5.217e-05	0.0001	0	0.0002	0	3.188e-05	0	6.078e-05	3.84e-05	1	26028	rs773053523	5.617e-05	8.824e-05	6.134e-05	5.094e-05	0.0002	4.616e-05	4.242e-05	7.127e-05	5.484e-05	5.981e-05	2.236e-05	0	5.039e-05	1.92e-05	0.0002	5.666e-05	1.657e-05	0.0001	6.575e-05	9.843e-05	7.72e-05	5.379e-05	0.0004	3.519e-05	2.618e-05	6.816e-05	2.853e-05	7.25e-05	0	0.0001	0	0.0004	0	0	2.941e-05	0	0.0002	0.183	0.21718	T	0.194	0.28120	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	0.999744	0.20516	N	0.64	0.16041	N	1.97	0.22067	T	-0.53	0.16393	N	0.248	0.28028	-1.0095	0.27074	T	0.032	0.13811	T	9	0.037614614	0.02127	T	0.001613	0.02600	T	0.054	0.15330	0.185	0.09388	0.0401082797425	0.02173	0.11380420062270966	0.11308	.	.	0.861310660839	0.91304	D	0.003594	0.03000	T	-0.411734	0.01935	T	-0.569525	0.15494	T	0.04003503688079	0.03696	T	0.671933	0.28057	T	0.024315586	0.01252	0.035364285	0.02775	0.024315586	0.01251	0.035364285	0.02775	-4.389	0.29408	T	.	.	0.199	0.42259	B	.	.	0.701809	0.10706	7.399	0.77749846855300953	0.12006	0.00530	0.02456	N	AEFI	0.034736	0.04355	N	-1.10179631500486	0.06611	0.3048343	-1.22429112110196	0.05522	0.2633247	6.26686191044207E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.39	0.39	0.15500	-0.175000	0.09816	0.876000	0.22354	0.295000	0.18837	0.002000	0.15269	0.250000	0.23912	0.001000	0.02609	1.0E-4:1.0E-4:0.5495:0.4504	3.425	0.06981	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	464.43	40	chr15	72661342	.	G	A	464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.367;DP=614;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.86;MQRankSum=0.511;QD=2.08;ReadPosRankSum=0.288;SOR=0.74	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,108,1620	9	0	1	0
chr15	72666280	72666280	C	T	exonic	GOLGA6B	.	nonsynonymous SNV	GOLGA6B:NM_018652:exon18:c.C2020T:p.P674S	.	376	1136	9	1	0	11	0.00481822	.	.	.	2814296	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	.	0.0010	0.00179712	0.0021	0.0013	0.0070	0	0.0004	0.0022	0.0058	0.0007	0.0005763	15	26028	rs200621607	0.0019	0.0019	0.0019	0.0019	0.0048	0.0018	0.0018	0.0039	0.0037	0.0004	0.0044	0.0015	2.547e-05	0.0002	0.0048	0.0020	0.0023	0.0006	0.0015	0.0016	0.0014	0.0016	0.0050	0.0013	0.0013	0.0041	0.0037	0.0005	0	0.0050	0.0006	0	0	0	0.0018	0.0035	0.0002	0.66	0.04699	T	0.076	0.42614	T	0.859	0.47319	P	0.744	0.55835	P	.	.	.	.	1	0.08975	N	2.57	0.75187	M	1.91	0.23283	T	-4.47	0.77881	D	0.129	0.12341	-1.0001	0.29888	T	0.098	0.36728	T	9	0.0058475137	0.00131	T	.	.	.	0.024	0.04979	.	.	0.0551355673512	0.04727	0.10641298346349394	0.10571	.	.	0.296045929193	0.09813	T	0.039579	0.25236	T	-0.631578	0.00093	T	-0.679591	0.07008	T	0.049693697766378	0.05446	T	0.711729	0.32279	T	0.058731303	0.11850	0.11965609	0.28880	0.058731303	0.11850	0.11965609	0.28880	-3.378	0.14762	T	.	.	0.101	0.17488	B	.	.	0.582757	0.09512	6.289	0.97782818453179132	0.35944	0.00528	0.02449	N	AEFI	0.023757	0.01370	N	-0.547848073690352	0.20551	1.084207	-0.881336682063675	0.12537	0.6454333	9.96221243378444E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.39	-0.781	0.10412	1.650000	0.36908	-2.209000	0.04054	0.298000	0.18894	0.258000	0.24929	0.000000	0.08366	0.002000	0.04165	0.0:0.3356:0.3437:0.3207	2.155	0.03576	431	0.80762	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005895	0.000000	0.006812	0.004167	0.050000	0.008621	0.006250	0.007752	0.05	1609.43	45	chr15	72666280	.	C	T	1609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.354;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.17;MQRankSum=4.55;QD=20.63;ReadPosRankSum=-1.843;SOR=0.643	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1113	9	0	1	0
chr15	72735954	72735954	A	T	exonic	BBS4	.	nonsynonymous SNV	BBS4:NM_001252678:exon13:c.A720T:p.E240D,BBS4:NM_001320665:exon13:c.A1167T:p.E389D,BBS4:NM_033028:exon14:c.A1236T:p.E412D	Bardet-Biedl syndrome 4, Autosomal recessive	0	1493	28	1	0	30	0.00994695	.	.	YES	255356	Bardet-Biedl_syndrome_4|not_specified|Bardet-Biedl_syndrome|not_provided	MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982,Orphanet:110|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.118	.	0.0010	0.00219649	0.0017	9.612e-05	0.0011	0	0.0002	0.0011	0	0.0071	0.0015977	247	154602	rs147202164	0.0012	0.0012	0.0010	0.0014	0.0080	0.0012	0.0012	0.0068	0.0066	0.0002	0.0011	0.0002	0	0.0003	0.0080	0.0009	0.0014	0.0073	0.0009	0.0009	0.0008	0.0010	0.0081	0.0008	0.0007	0.0061	0.0054	0.0002	0	0.0013	0.0006	0	0.0002	0.0137	0.0008	0.0009	0.0081	0.631	0.05137	T	0.608	0.12316	T	0.0	0.02946	B	0.002	0.06944	B	0.000051	0.53742	D	0.165515	0.851858	0.35848	D	0.94	0.23649	L	-0.17	0.65563	T	-0.26	0.11185	N	0.193	0.21188	-1.1085	0.03201	T	0.076	0.30522	T	10	0.0062256753	0.00140	T	.	.	.	0.118	0.32913	0.536	0.64585	0.467585353272	0.46384	0.12365382285431516	0.12291	0.0123763208072	0.01177	0.421674877405	0.28067	T	0.15607	0.49808	T	-0.453691	0.01074	T	-0.420747	0.30989	T	0.00809032004326582	0.00096	T	0.763624	0.39028	T	0.065803885	0.14100	0.03444925	0.02514	0.067963764	0.14765	0.027452525	0.00899	-4.176	0.32571	T	.	.	0.074	0.05060	B	.;.	.;.	0.535059	0.09040	5.820	0.84337932865170284	0.15233	0.18627	0.20337	N	AEFBI	0.080972	0.16379	N	-0.964398092015882	0.09372	0.4432894	-0.895571225133823	0.12198	0.6260898	0.993373274759456	0.33190	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.68	-1.56	0.08080	-0.645000	0.05506	-0.595000	0.08301	0.756000	0.94297	0.133000	0.23395	0.000000	0.08366	0.917000	0.45243	0.2643:0.2158:0.3251:0.1949	0.986	0.01356	409	0.82198	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.005051	0.002717	0.000000	0.000000	0.000000	0.009146	0.015152	0.05	945.43	36	chr15	72735954	.	A	T	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=379;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.33;SOR=0.571	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1179	9	0	1	0
chr15	73260364	73260364	T	C	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172623:exon15:c.T2297C:p.I766T,NEO1:NM_001172624:exon15:c.T2297C:p.I766T,NEO1:NM_002499:exon15:c.T2297C:p.I766T	.	.	.	.	.	.	.	.	.	.	.	3565604	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.329	0.0105684272862	.	.	1.649e-05	0	0	0	0	1.5e-05	0	6.056e-05	1.94e-05	3	154602	rs200286275	1.847e-05	1.847e-05	1.906e-05	1.788e-05	3.478e-05	1.265e-05	1.084e-05	1.213e-05	1.03e-05	0	0	0	0	0	0	1.889e-05	4.968e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.025	0.47320	D	0.089	0.40426	T	0.579	0.38789	P	0.814	0.58796	P	0.000000	0.84330	D	0.047705	1	0.81001	D	1.04	0.26193	L	2.02	0.21119	T	-3.86	0.72471	D	0.475	0.55799	-1.1057	0.03467	T	0.083	0.32556	T	10	0.5856902	0.66097	D	0.010568	0.27259	T	0.329	0.65126	0.537	0.64730	0.382607109125	0.37878	0.4518500324431801	0.45103	0.275615061522	0.30037	0.831962585449	0.86864	D	0.418726	0.77098	T	0.0268761	0.55306	T	-0.0176429	0.69183	D	0.66841846704483	0.39267	D	0.974903	0.91709	D	0.43603823	0.63147	0.38064152	0.63092	0.43603823	0.63147	0.38064152	0.63092	-5.103	0.39784	T	.	.	0.355	0.59381	A	.;.;.;.;.	.;.;.;.;.	3.722239	0.53200	23.3	0.99850027860766932	0.92925	0.97008	0.72158	D	AEFGBI	0.783156	0.71422	D	0.416933984709269	0.62354	4.449845	0.483575092644581	0.66900	5.012895	0.99999584788355	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	6.210000	0.72114	5.076000	0.47223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	15.371	0.74284	675	0.60470	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1721.43	34	chr15	73260364	.	T	C	1721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.742;DP=449;ExcessHet=0;FS=1.354;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.757;SOR=0.55	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1258	9	0	1	0
chr15	74044746	74044746	G	A	exonic	PML	.	nonsynonymous SNV	PML:NM_033238:exon9:c.G2387A:p.R796H	Leukemia, acute promyelocytic, PML/RARA type (3)	407	1108	7	0	0	7	0.0031489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0253256621676	0.0002	0.000399361	0.0003	0.0001	8.778e-05	0	0	0.0004	0	0	0.0002587	40	154602	rs188674537	0.0003	0.0003	0.0003	0.0003	0.0102	0.0002	0.0002	0.0081	0.0074	0.0002	0.0002	0.0036	2.519e-05	0	0.0102	0.0002	0.0006	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0001	8.276e-05	0.0001	0	0.0003	0.0032	0	0	0.0068	0.0001	0.0005	0	0.001	0.78490	D	0.008	0.67890	D	0.987	0.64070	D	0.579	0.58136	P	0.164542	0.17559	N	0.501865	0.994109	0.23586	N	1.955	0.52871	M	0.66	0.52867	T	-1.02	0.26843	N	0.228	0.42247	-0.8407	0.52600	T	0.136	0.45068	T	10	0.013035178	0.00278	T	0.025326	0.48303	D	0.095	0.27398	.	.	0.663894293613	0.66107	0.42228125283252965	0.42145	0.816048368468	0.66942	0.468564450741	0.34483	T	0.516409	0.83004	D	-0.271969	0.11539	T	-0.349006	0.39319	T	0.0544090863870707	0.06259	T	0.875612	0.58729	D	0.09021544	0.21104	0.06678625	0.13727	0.09021544	0.21103	0.06678625	0.13727	-4.789	0.36392	T	.	.	0.147	0.32445	B	.;.	.;.	3.449880	0.48029	22.5	0.99907907607437729	0.97801	0.21830	0.21539	N	AEFDGBI	0.046254	0.07661	N	0.0753120190168488	0.45313	2.789918	0.0224282577831368	0.40758	2.437617	0.999884892479627	0.44867	0.651	0.46895	0	0.694456	0.67091	0	0.576033	0.28219	0	0.683762	0.67416	0	.	.	4.82	2.79	0.31792	1.374000	0.33889	4.660000	0.44233	0.676000	0.76740	0.219000	0.24524	1.000000	0.68203	0.125000	0.19370	0.304:0.0:0.696:0.0	5.107	0.14121	801	0.44448	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.006793	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	1446.43	40	chr15	74044746	.	G	A	1446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=488;ExcessHet=0;FS=4.183;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=-0.002;SOR=0.607	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1157	9	0	1	0
chr15	74333265	74333265	G	T	exonic	CCDC33	.	nonsynonymous SNV	CCDC33:NM_182791:exon7:c.G762T:p.R254S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0134597884852	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440882898	3.445e-06	3.42e-06	1.369e-06	5.55e-06	5.972e-05	1.01e-06	7.3e-07	2.345e-05	1.467e-05	0	0	0	0	0	0	0	0	5.972e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	0.16038	T	0.075	0.42794	T	0.037	0.20876	B	0.018	0.18489	B	0.002186	0.37053	N	0.124032	1	0.81001	D	.	.	.	1.81	0.25182	T	-0.71	0.20145	N	0.353	0.39457	-1.0661	0.10293	T	0.049	0.20908	T	9	0.083991945	0.14032	T	0.01346	0.32880	T	0.015	0.02232	.	.	0.202086224978	0.19791	.	.	.	.	.	.	.	.	.	.	-0.241498	0.15159	T	-0.584672	0.14130	T	0.603679716587067	0.36547	D	0.478952	0.14445	T	.	.	.	.	.	.	.	.	-2.757	0.07794	T	.	.	0.189	0.40683	B	.	.	2.486519	0.32075	18.93	0.98288949171731854	0.39926	0.83921	0.43011	D	AEFGBI	0.212552	0.33822	N	-0.365859384173941	0.26694	1.458797	-0.280121678136564	0.28753	1.605633	0.701103937207577	0.22701	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.69	1.61	0.22752	1.140000	0.31128	0.740000	0.21154	0.665000	0.62972	0.991000	0.37257	0.997000	0.33255	0.858000	0.40661	0.1063:0.1809:0.526:0.1868	2.701	0.04831	809	0.43032	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	414.43	34	chr15	74333265	.	G	T	414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.859;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=-2.055;SOR=0.656	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1201	9	0	1	0
chr15	74722964	74722964	C	T	exonic	CYP1A1	.	nonsynonymous SNV	CYP1A1:NM_000499:exon2:c.G134A:p.G45D,CYP1A1:NM_001319216:exon2:c.G134A:p.G45D,CYP1A1:NM_001319217:exon2:c.G134A:p.G45D	.	0	1515	7	0	0	7	0.00230491	.	.	.	3200475	CYP1A1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.279	.	0.0002	0.0241613	0.0104	0.0002	0.0002	0.1409	0	1.502e-05	0.0067	0.0019	0.0095794	1481	154602	rs4646422	0.0045	0.0045	0.0046	0.0043	0.1461	0.0044	0.0044	0.1430	0.1417	0.0001	0.0003	0	0.1461	1.872e-05	0.0005	5.576e-05	0.0080	0.0022	0.0049	0.0050	0.0042	0.0057	0.1324	0.0046	0.0045	0.1242	0.1209	0.0003	0	0.0008	0	0.1324	0	0	5.879e-05	0.0052	0.0060	0.043	0.43708	D	0.038	0.53072	D	0.851	0.46962	P	0.72	0.54860	P	0.000183	0.48115	D	0.210758	0.874727	0.81001	D	3.845	0.95734	H	-0.36	0.68754	T	-2.47	0.53898	N	0.507	0.54671	-0.6314	0.63511	T	0.014	0.05561	T	10	0.0020495355	0.00029	T	.	.	.	0.279	0.59619	.	.	.	.	0.7607797247847745	0.76025	0.202067841752	0.22620	0.391331404448	0.23857	T	0.082776	0.83368	T	-0.377481	0.03231	T	-0.185182	0.56040	T	0.128410049090767	0.15234	T	0.675032	0.28809	T	0.8645542	0.88435	0.73740804	0.84479	0.8645542	0.88436	0.73740804	0.84480	-10.372	0.76109	D	.	.	0.604	0.71091	P	.;.;.;.;.;.	.;.;.;.;.;.	3.442738	0.47899	22.5	0.99732796145374225	0.82904	0.50740	0.28733	D	AEFBI	0.531654	0.55184	D	0.461799244060214	0.64876	4.752249	0.322070521907152	0.56840	3.847941	0.999992632049512	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.64	4.7	0.58776	2.969000	0.48924	1.515000	0.27051	0.596000	0.33519	0.780000	0.29473	0.994000	0.32194	0.360000	0.25886	0.0:0.7781:0.2219:0.0	16.259	0.82356	492	0.76569	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1544.43	33	chr15	74722964	.	C	T	1544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.564;DP=438;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.774;SOR=0.591	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1091	9	0	1	0
chr15	74890083	74890083	C	T	exonic	MPI	.	nonsynonymous SNV	MPI:NM_001289155:exon1:c.C10T:p.P4S,MPI:NM_001289157:exon1:c.C10T:p.P4S,MPI:NM_002435:exon1:c.C10T:p.P4S	Congenital disorder of glycosylation, type Ib, Autosomal recessive	2	1473	44	3	0	50	0.0166889	.	.	.	267163	not_specified|MPI-congenital_disorder_of_glycosylation|not_provided|MPI-related_disorder	MedGen:CN169374|MONDO:MONDO:0011257,MedGen:C1865145,OMIM:602579,Orphanet:79319|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.395	0.101364905895	0.0013	0.000798722	0.0017	0.0003	0.0034	0	0	0.0020	0.0071	0.0013	0.0015459	239	154602	rs143982014	0.0014	0.0014	0.0013	0.0015	0.0235	0.0014	0.0013	0.0202	0.0190	0.0007	0.0033	0.0112	2.519e-05	0	0.0235	0.0011	0.0030	0.0012	0.0014	0.0014	0.0015	0.0013	0.0031	0.0012	0.0012	0.0024	0.0022	0.0004	0	0.0031	0.0130	0	0	0.0238	0.0012	0.0066	0.0006	0.337	0.31987	T	0.692	0.34241	T	0.002	0.11197	B	0.002	0.11217	B	0.728648	0.06356	N	1.128990	1	0.20412	N	0.995	0.25082	L	-4.08	0.96594	D	0.21	0.08033	N	0.165	0.29889	0.098	0.84141	D	0.791	0.92899	D	10	0.00872612	0.00198	T	0.101365	0.77421	D	0.395	0.71004	.	.	0.746948417672	0.74466	0.24313440256969707	0.24227	0.189476331791	0.21270	0.363826721907	0.19941	T	0.325986	0.69665	T	-0.180452	0.23669	T	-0.0340886	0.68097	D	0.00599573156288727	0.00066	T	0.859214	0.63097	D	0.029457944	0.02445	0.050822712	0.08053	0.026288811	0.01666	0.054601777	0.09421	-3.593	0.18379	T	.	.	0.115	0.23077	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.625673	0.20758	14.90	0.71600662564173023	0.09684	0.14769	0.18576	N	ALL	0.118988	0.23244	N	-0.784616274754612	0.13710	0.6773794	-0.837605732487111	0.13586	0.7055841	0.99999999999726	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.08	1.99	0.25423	1.175000	0.31553	1.167000	0.24596	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.2111:0.5844:0.2045:0.0	6.414	0.20910	285	0.88719	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020202	0.025510	0.023098	0.035294	0.000000	0.025862	0.009202	0.000000	0.05	2214.43	36	chr15	74890083	.	C	T	2214.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=504;ExcessHet=0;FS=2.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.39;SOR=0.903	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2226,0,2220	9	0	1	0
chr15	75270143	75270143	G	A	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon18:c.G2026A:p.D676N	.	357	1154	9	2	0	13	0.00560103	.	.	.	2238037	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.00363506451446	.	.	0.0001	0.0004	0	0.0002	0	0.0002	0.0011	0	0.0001617	25	154602	rs759718533	0.0003	0.0010	0.0003	0.0003	0.0034	0.0003	0.0003	0.0021	0.0017	0.0005	0.0009	3.874e-05	0.0010	0	0.0034	0.0003	0.0004	0.0002	0.0002	0.0009	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	0.0001	0	0.0004	0	0	0	0.0105	0.0002	0.0010	0	0.086	0.32610	T	0.143	0.33219	T	0.996	0.68779	D	0.981	0.75168	D	.	.	.	.	0.999637	0.20820	N	3.08	0.87267	M	1.89	0.23688	T	-2.29	0.50992	N	0.172	0.18376	-1.0248	0.22148	T	0.122	0.42272	T	8	0.15918177	0.29915	T	0.003635	0.08340	T	0.160	0.41473	0.263	0.20788	0.144782658237	0.14088	0.05356826369261531	0.05298	0.00230504125883	0.00198	0.591845035553	0.51754	T	0.045974	0.27284	T	-0.516048	0.00464	T	-0.670176	0.07597	T	0.118791940562018	0.14312	T	0.611839	0.23263	T	0.0900664	0.21064	0.06462031	0.12978	0.0900664	0.21064	0.06462031	0.12978	-3.521	0.16727	T	.	.	0.079	0.07460	B	.	.	1.468082	0.18916	13.99	0.98644588008126977	0.44096	0.53252	0.29327	D	AEFDI	0.281013	0.39469	N	-0.215494524765919	0.32497	1.833375	-0.517876742663213	0.21668	1.173238	0.0072213483233818	0.11414	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	3.975000	0.56567	2.248000	0.31665	0.393000	0.20503	1.000000	0.71638	0.994000	0.32194	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	513	0.74941	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001603	0.015464	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05556	531.08	.	chr15	75270143	.	G	A	531.08	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.89;DP=416;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=53.23;MQRankSum=-9.467;QD=3.99;ReadPosRankSum=0.426;SOR=0.756	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	8	0	1	1
chr15	75351353	75351353	G	A	exonic	NEIL1	.	nonsynonymous SNV	NEIL1:NM_001352519:exon3:c.G152A:p.C51Y	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0	0	0	.	0.0021	0.0104	0.0006	9.06e-05	14	154602	rs760526659	0.0003	0.0001	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0	9.43e-05	0.0027	0	0	0	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	7.733e-05	6.372e-05	5.986e-05	4.343e-05	2.667e-05	0	0.0002	0.0015	0	0	0.0041	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	357.43	31	chr15	75351353	.	G	A	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.502;DP=307;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-0.675;SOR=0.507	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,772:.	9	0	1	0
chr15	75687854	75687854	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G3211A:p.V1071I	.	429	1082	10	1	0	12	0.00551471	.	.	.	3430021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0095671237633	0.0002	0.000199681	0.0002	9.86e-05	8.672e-05	0	0	0.0002	0.0034	0.0005	0.000207	32	154602	rs143544297	0.0002	0.0002	0.0001	0.0002	0.0062	0.0002	0.0002	0.0046	0.0041	8.961e-05	0.0001	0.0003	7.557e-05	0	0.0062	0.0001	0.0003	0.0009	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.623e-05	0	0.0002	0.0003	0	0	0.0068	0.0001	0.0014	0.0008	0.203	0.20154	T	0.211	0.26631	T	0.226	0.30455	B	0.041	0.23986	B	0.175967	0.17237	N	0.539133	1	0.08975	N	1.54	0.38927	L	0.98	0.42122	T	-0.74	0.20791	N	0.274	0.31027	-1.0328	0.19554	T	0.098	0.36677	T	10	0.02402541	0.00647	T	0.009567	0.25039	T	0.040	0.10527	.	.	0.223847106136	0.22009	0.1985138272065129	0.19768	0.283660828332	0.30797	0.264948606491	0.05494	T	0.07349	0.34710	T	-0.514191	0.00475	T	-0.633646	0.10139	T	0.00931770984205036	0.00119	T	0.562944	0.19809	T	0.06855209	0.14943	0.11397094	0.27508	0.06855209	0.14943	0.11397094	0.27507	-7.786	0.59602	D	.	.	0.099	0.16843	B	.	.	2.275660	0.29088	18.01	0.98078269462014078	0.38086	0.44108	0.27246	N	AEFDGBHCI	0.151457	0.27594	N	-0.466872488934897	0.23171	1.242485	-0.463218025171598	0.23174	1.262469	0.999484923228312	0.39952	0.59774	0.34471	0	0.588066	0.40923	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.07	4.14	0.47821	1.466000	0.34919	4.059000	0.41572	0.520000	0.23804	0.001000	0.13787	0.326000	0.24349	0.815000	0.38403	0.0:0.913:0.0:0.087	11.734	0.51022	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.005051	0.010899	0.011696	0.000000	0.008621	0.000000	0.000000	0.05	1662.43	33	chr15	75687854	.	C	T	1662.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=620;ExcessHet=0;FS=2.229;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.589;SOR=0.505	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	9	0	1	0
chr15	75689209	75689209	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1856A:p.R619Q	.	415	1097	10	0	0	10	0.00453721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0061	0.0233626	0.0127	0.0126	0.0298	0.0915	0.0005	0.0019	0.0048	0.0053	0.0112418	1738	154602	rs4886730	0.0057	0.0057	0.0059	0.0056	0.0949	0.0056	0.0056	0.0924	0.0914	0.0131	0.0249	0.0018	0.0949	9.647e-05	0.0029	0.0018	0.0080	0.0057	0.0094	0.0094	0.0094	0.0094	0.0921	0.0090	0.0088	0.0853	0.0826	0.0128	0	0.0138	0.0035	0.0921	0.0002	0	0.0020	0.0123	0.0071	0.135	0.26192	T	0.16	0.31427	T	0.572	0.38625	P	0.059	0.26602	B	0.158551	0.17736	N	0.490245	0.985886	0.40348	D	1.335	0.33326	L	2.21	0.18414	T	-0.65	0.18877	N	0.062	0.03392	-0.9323	0.43799	T	0.001	0.00255	T	10	0.0024222136	0.00036	T	.	.	.	0.055	0.15663	.	.	.	.	0.33910709659138527	0.33823	0.408968694635	0.41722	0.227463632822	0.01785	T	0.056399	0.30278	T	-0.749095	0.00018	T	-0.772234	0.02695	T	0.00311949228406574	0.00033	T	0.647535	0.25853	T	0.033190373	0.03488	0.06330561	0.12520	0.033190373	0.03488	0.06330561	0.12520	-2.875	0.08896	T	.	.	0.068	0.02797	B	.	.	-0.159430	0.03305	0.572	0.96086268997248214	0.28668	0.27454	0.23282	N	AEFBI	0.188092	0.31538	N	-1.13555296859083	0.06021	0.2760884	-1.25019338582792	0.05128	0.2436221	0.970823662265543	0.29237	0.59774	0.34471	0	0.588066	0.40923	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.35	-4.73	0.03022	-0.102000	0.10926	-5.671000	0.01636	-1.943000	0.00489	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1004:0.39:0.1964:0.3132	2.259	0.03814	162	0.93704	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007143	0.000000	0.012329	0.012605	0.000000	0.000000	0.000000	0.007874	0.05	1262.43	33	chr15	75689209	.	C	T	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.657;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.64;MQRankSum=0.512;QD=15.4;ReadPosRankSum=0.783;SOR=0.65	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016110	0.026667	0.005464	0.004310	0.055556	0.034483	0.025547	0.016393	0.1	560.14	45	chr15	75689635	.	C	T	560.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.42;DP=634;ExcessHet=0.2348;FS=28.292;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.15;MQRankSum=-8.672;QD=2.4;ReadPosRankSum=-1.318;SOR=2.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,120,1800:.	8	0	2	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024083	0.013889	0.035616	0.021739	0.000000	0.017241	0.014493	0.008065	0.05	344.43	38	chr15	75690325	.	C	A	344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.28;DP=428;ExcessHet=0;FS=4.234;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.22;MQRankSum=-5.445;QD=3.87;ReadPosRankSum=0.491;SOR=1.381	GT:AD:DP:GQ:PL	0/1:71,18:89:99:356,0,1841	9	0	1	0
chr15	75844444	75844444	T	C	exonic	UBE2Q2	.	nonsynonymous SNV	UBE2Q2:NM_001145335:exon1:c.T91C:p.C31R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000845717180134	.	.	5.033e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs745615700	5.574e-05	5.336e-05	6.063e-05	5.071e-05	0.0012	4.538e-05	4.197e-05	0.0006	0.0004	0	0	0	0	0	0.0012	6.024e-05	8.622e-05	1.262e-05	1.97e-05	1.969e-05	1.285e-05	2.686e-05	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	0	0	0	0	0.0034	0	0	0.0002	0.011	0.55530	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	.	.	.	1.16	0.01136	N	0.142	0.14196	-1.0133	0.25880	T	0.059	0.24575	T	8	0.05821386	0.06809	T	8.46E-4	0.00713	T	.	.	.	.	0.241078983079	0.23725	.	.	.	.	.	.	.	.	.	.	-0.300929	0.08572	T	-0.444338	0.28323	T	0.0634488672709693	0.07700	T	0.230977	0.03126	T	.	.	.	.	.	.	.	.	-2.374	0.04976	T	.	.	0.224	0.45605	B	.	.	0.577085	0.09458	6.234	0.65398601453607386	0.07761	0.02125	0.06275	N	ALL	0.047009	0.07869	N	-1.25421900902732	0.04244	0.191169	-1.34997229990628	0.03806	0.1782938	0.999999999997514	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.179345	0.04352	3	0.56214	0.19341	0	.	.	2.31	-2.24	0.06518	-0.004000	0.12813	-1.348000	0.05654	-0.183000	0.09960	0.064000	0.21895	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.6637:0.3363	8.805	0.34088	213	0.91726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2087.43	40	chr15	75844444	.	T	C	2087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.114;DP=530;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.021;SOR=0.629	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	9	0	1	0
chr15	77114350	77114350	T	G	exonic	PEAK1	.	nonsynonymous SNV	PEAK1:NM_024776:exon8:c.A5047C:p.S1683R,PEAK1:NM_001385026:exon10:c.A5047C:p.S1683R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0197898326284	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234979243	3.42e-06	3.42e-06	6.806e-06	0	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.456	0.12740	T	0.001	0.07471	B	0.001	0.04355	B	0.167843	0.17464	U	0.548905	1	0.08975	N	0.895	0.22405	L	-0.41	0.69413	T	-1.06	0.27669	N	0.169	0.17966	-1.0175	0.24528	T	0.117	0.41341	T	10	0.08972207	0.15567	T	0.01979	0.42241	T	0.110	0.31079	0.553	0.66995	0.20808081866	0.20439	0.4181313653680462	0.41729	0.0666632247173	0.07434	0.339246571064	0.16325	T	0.02292	0.17585	T	-0.133887	0.30870	T	-0.430096	0.29925	T	0.0531158180981099	0.06039	T	0.445455	0.12454	T	0.11585771	0.27334	0.11630786	0.28078	0.11585771	0.27334	0.11630786	0.28077	-4.935	0.36126	T	.	.	0.272	0.50563	B	.;.	.;.	0.662584	0.10309	7.041	0.93661038767010396	0.23551	0.71772	0.35158	D	AEFBI	0.198678	0.32552	N	-1.0178560477284	0.08233	0.3853115	-0.927313336151418	0.11451	0.5834265	0.999729476171335	0.42220	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.57	1.95	0.25130	0.453000	0.21523	0.448000	0.18493	-0.137000	0.12594	0.176000	0.24013	0.187000	0.23467	0.009000	0.08673	0.0:0.2951:0.0:0.7049	8.264	0.30964	363	0.84772	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1865.43	33	chr15	77114350	.	T	G	1865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.849;DP=541;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-2.391;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1150	9	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	37.26	75	chr15	77470925	.	G	C	37.26	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.562;DP=393;ExcessHet=0.2348;FS=385.528;InbreedingCoeff=-0.1105;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.44;SOR=8.189	GT:AD:DP:GQ:PL	0/0:25,7:32:22:0,22,633	8	0	2	0
chr15	78101010	78101010	C	T	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon5:c.C757T:p.R253W	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.027204006025	0.0026	0.000599042	0.0024	0.0009	0.0006	0	0.0012	0.0033	0.0023	0.0025	0.0023092	357	154602	rs181099810	0.0034	0.0034	0.0034	0.0034	0.0039	0.0033	0.0033	0.0038	0.0038	0.0009	0.0009	0.0013	5.038e-05	0.0005	0.0023	0.0039	0.0028	0.0030	0.0023	0.0023	0.0027	0.0019	0.0041	0.0021	0.0020	0.0037	0.0035	0.0008	0	0.0013	0.0009	0.0002	0.0008	0	0.0041	0.0019	0.0012	0.004	0.78490	D	0.009	0.66756	D	0.993	0.65571	D	0.446	0.45959	B	0.997634	0.07987	N	0.998204	1	0.08975	N	1.59	0.40313	L	1.37	0.34253	T	-5.18	0.83557	D	0.327	0.40963	-1.0347	0.18951	T	0.062	0.25672	T	10	0.0066726506	0.00151	T	0.027204	0.50045	D	0.061	0.17616	.	.	0.269111216191	0.26524	0.4564531384228855	0.45563	0.210751915057	0.23571	0.270879477262	0.06256	T	0.019145	0.15304	T	-0.513744	0.00478	T	-0.510878	0.21226	T	0.0493256645745036	0.05381	T	0.770723	0.40088	T	0.097785234	0.23055	0.09278537	0.21884	0.097785234	0.23055	0.09278537	0.21883	-7.051	0.54405	T	.	.	0.120	0.24733	B	.;.	.;.	1.721730	0.21921	15.40	0.99406286898487295	0.63075	0.06576	0.12591	N	AEFDGBI	0.151291	0.27575	N	-0.677314332438991	0.16670	0.8513137	-0.809881757423486	0.14256	0.7439816	0.997309824840635	0.35478	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.78	1.02	0.19102	0.160000	0.16278	-0.951000	0.06813	-1.001000	0.01808	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.4347:0.4044:0.1608:0.0	6.611	0.21948	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	2271.14	36	chr15	78101010	.	C	T	2271.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.41;DP=482;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.84;SOR=0.734	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1232,0,1057	8	0	2	0
chr15	78168982	78168982	C	T	exonic	IDH3A	.	nonsynonymous SNV	IDH3A:NM_005530:exon11:c.C1078T:p.R360C	.	437	1082	3	0	0	3	0.0013844	.	.	.	1145476	IDH3A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0413373250293	0.0042	0.000998403	0.0022	0.0011	0.0014	0	0.0008	0.0034	0.0022	0.0002	0.0022251	344	154602	rs116374996	0.0044	0.0044	0.0045	0.0042	0.0053	0.0043	0.0043	0.0052	0.0051	0.0005	0.0018	0.0018	2.538e-05	0.0009	0.0049	0.0053	0.0046	0.0002	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0042	0.0041	0.0009	0.0011	0.0018	0.0023	0.0002	0.0007	0	0.0046	0.0038	0.0004	0.007	0.59928	D	0.017	0.67890	D	0.452	0.36118	B	0.205	0.37080	B	0.002613	0.36243	N	0.339765	1	0.81001	D	2.73	0.79844	M	0.48	0.55945	T	-2.65	0.60827	D	0.399	0.45520	-0.6680	0.61919	T	0.160	0.49447	T	10	0.011196941	0.00246	T	0.041337	0.59872	D	0.174	0.44019	.	.	0.750285348381	0.74802	0.6740994769403064	0.67347	1.44831164804	0.86095	0.288558244705	0.08713	T	0.59691	0.87024	D	-0.350836	0.04675	T	-0.275637	0.47248	T	0.0395214842948589	0.03604	T	0.927007	0.73102	D	0.24317315	0.47253	0.12204911	0.29443	0.24317315	0.47252	0.12204911	0.29442	-7.86	0.60112	D	0.3734515709622747	0.46871	0.147	0.41357	B	.;.;.	.;.;.	4.317259	0.66045	24.9	0.99908517576624323	0.97875	0.97845	0.77560	D	AEFDBI	0.771936	0.70641	D	0.344219240845876	0.58435	4.015714	0.413765191885411	0.62420	4.457244	0.999999889367069	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	5.26	0.73479	3.502000	0.53092	1.798000	0.28858	0.599000	0.40250	1.000000	0.71638	0.948000	0.28948	0.997000	0.79791	0.1273:0.8057:0.0:0.067	11.206	0.47995	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.014620	0.000000	0.000000	0.000000	0.000000	0.1	1875.14	37	chr15	78168982	.	C	T	1875.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.131;DP=477;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.37;SOR=0.705	GT:AD:DP:GQ:PL	0/1:56,46:102:99:963,0,1221	8	0	2	0
chr15	78764670	78764670	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon20:c.C4304T:p.P1435L	.	867	653	2	0	0	2	0.00152905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00811081495837	0.0007	0.00179712	0.0014	0.0046	0	0	0	2.771e-05	0	0.0092	0.0007438	115	154602	rs201848559	0.0004	0.0004	0.0003	0.0005	0.0042	0.0004	0.0004	0.0037	0.0036	0.0042	2.466e-05	0	0	0	0.0012	0.0001	0.0006	0.0041	0.0010	0.0010	0.0011	0.0010	0.0033	0.0009	0.0008	0.0027	0.0025	0.0031	0	0.0003	0	0	0	0	8.821e-05	0.0005	0.0033	0.312	0.13925	T	0.393	0.15355	T	0.002	0.09854	B	0.002	0.06944	B	0.540777	0.11539	N	0.785759	1	0.08975	N	0.21	0.09513	N	0.67	0.52187	T	-1.23	0.31170	N	0.047	0.01911	-1.0285	0.20940	T	0.061	0.25492	T	10	0.008200526	0.00186	T	0.008111	0.21495	T	0.024	0.04979	.	.	0.170165803431	0.16609	0.23361761247003526	0.23276	0.168445223863	0.18995	0.589950799942	0.51487	T	0.015269	0.12843	T	-0.61551	0.00117	T	-0.657434	0.08441	T	0.00425875675228196	0.00045	T	0.152885	0.01311	T	0.044275615	0.07050	0.04636494	0.06445	0.044275615	0.07050	0.04636494	0.06445	-8.294	0.63055	D	.	.	0.071	0.03773	B	.	.	0.258944	0.06375	2.841	0.85616400970196449	0.16004	0.22603	0.21802	N	AEFDBHCI	0.157153	0.28261	N	-0.974067704878724	0.09161	0.4323895	-0.9404614091418	0.11145	0.5659966	0.999999363957493	0.74766	0.712529	0.81865	0	0.588066	0.40923	0	0.635938	0.45252	0	0.613276	0.41899	0	.	.	4.47	2.54	0.29674	1.291000	0.32936	-0.080000	0.12189	-1.236000	0.01320	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1992:0.0:0.8008:0.0	8.524	0.32454	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006818	0.000000	0.012363	0.004386	0.000000	0.000000	0.003448	0.000000	0.05	63.44	18	chr15	78764670	.	G	A	63.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.96;DP=165;ExcessHet=0;FS=0;InbreedingCoeff=-0.0537;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.52;ReadPosRankSum=-1.558;SOR=0.743	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,269	9	0	1	0
chr15	78766678	78766678	-	A	exonic	ADAMTS7	.	frameshift insertion	ADAMTS7:NM_014272:exon19:c.3232dupT:p.Y1078Lfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0192	.	0.0159	0.0060	0.0379	0.0011	0.0039	0.0204	0.0094	0.0018	0.0009605	25	26028	rs778557910	0.0001	0.0010	0.0001	0.0001	0.0004	0.0001	0.0001	0.0003	0.0003	8.984e-05	0.0001	7.673e-05	0.0004	0.0001	0	0.0001	0.0001	0.0004	0.0003	0.0021	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	9.64e-05	0	0.0005	0.0003	0.0002	0.0002	0	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006834	0.025316	0.004121	0.021368	0.000000	0.000000	0.003448	0.004132	0.1	300.1	90	chr15	78766678	.	T	TA	300.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.77;DP=495;ExcessHet=0.2348;FS=23.736;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.97;MQRankSum=-8.458;QD=1.66;ReadPosRankSum=0.281;SOR=2.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	8	0	2	0
chr15	78766699	78766699	T	C	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon19:c.A3212G:p.N1071S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0678939093032	.	.	0.0052	0.0025	0.0044	0.0001	0.0012	0.0079	0.0035	0.0011	3.84e-05	1	26028	rs772401605	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	4.477e-05	7.669e-05	0.0003	0.0001	0.0002	0.0002	6.654e-05	0.0002	0.0004	0.0035	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0007	0	0.0002	0	0	0.0002	0	0.0004	0.0005	0.0004	0.01	0.56456	D	0.082	0.41573	T	0.911	0.50336	P	0.505	0.47795	P	0.000002	0.62929	D	0.056036	0.774007	0.34185	D	2.535	0.73915	M	0.08	0.61559	T	-2.71	0.57762	D	0.362	0.40364	-0.5890	0.65260	T	0.218	0.58046	T	10	0.016785592	0.00355	T	0.067894	0.70296	D	0.237	0.54074	.	.	0.546824882953	0.54336	0.5624284233269976	0.56169	0.323247963156	0.34489	0.496368527412	0.38321	T	0.016713	0.13762	T	-0.143449	0.29343	T	-0.443831	0.28381	T	0.0633423924446106	0.07684	T	0.894311	0.63332	D	0.1469743	0.33619	0.16823867	0.38768	0.1469743	0.33619	0.16823867	0.38767	-7.788	0.59616	D	.	.	0.110	0.21011	B	.	.	2.196717	0.28013	17.66	0.99767293509876787	0.85583	0.89112	0.49384	D	AEFBI	0.452223	0.50587	N	0.106411927005936	0.46762	2.911622	0.038612124538652	0.41526	2.49619	0.010572981451808	0.12047	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.66	2.13	0.26445	3.072000	0.49747	0.035000	0.13787	0.502000	0.22824	1.000000	0.71638	0.850000	0.27382	0.108000	0.18652	0.0:0.0:0.3202:0.6798	10.187	0.42180	499	0.76092	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001697	0.006173	0.000000	0.004274	0.000000	0.008621	0.000000	0.000000	0.05	143.67	91	chr15	78766699	.	T	C	143.67	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.88;DP=481;ExcessHet=0;FS=38.191;InbreedingCoeff=-0.0686;MLEAC=1;MLEAF=0.05;MQ=58.43;MQRankSum=-7.975;QD=1.73;ReadPosRankSum=-1.004;SOR=5.376	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1530:.	9	0	1	0
chr15	78776778	78776778	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon10:c.G1531A:p.V511M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0048	0.0011	0.0024	0	0	0.0050	0.0101	0.0062	0.0010479	162	154602	rs146326084	0.0031	0.0093	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0004	0.0014	0.0002	0	0.0002	0.0068	0.0036	0.0026	0.0026	0.0010	0.0055	0.0010	0.0010	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0017	0.0003	0	0.0006	0.0035	0.0015	0.0010	0.0017	0.03	0.45393	D	0.035	0.52389	D	1.0	0.90584	D	0.996	0.84481	D	0.000002	0.62929	D	0.000000	0.999984	0.54805	D	.	.	.	0.16	0.60610	T	-2.24	0.50175	N	0.368	0.40963	-0.4123	0.71636	T	0.311	0.68112	T	10	0.024242163	0.00660	T	.	.	.	0.197	0.47942	.	.	0.77308684516	0.77100	0.5804270689733002	0.57971	0.749224044332	0.63684	0.658837497234	0.61242	T	0.022508	0.17341	T	0.0405265	0.57114	T	-0.179563	0.56563	T	0.544937610626221	0.34288	D	0.940706	0.77799	D	0.1005538	0.23745	0.15226209	0.35831	0.1005538	0.23744	0.15226209	0.35830	-8.343	0.63384	D	.	.	0.271	0.50509	B	.	.	4.508606	0.70581	25.5	0.99908254673372687	0.97801	0.96474	0.69319	D	AEFBI	0.650980	0.62489	D	0.534252785431371	0.69131	5.31345	0.480624850693116	0.66706	4.987275	0.999999161379799	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.09	4.09	0.47038	7.482000	0.80187	5.790000	0.49863	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.744000	0.35576	0.0:1.0:0.0:0.0	15.061	0.71618	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003712	0.000000	0.005731	0.000000	0.000000	0.000000	0.006494	0.003788	0.05	253.43	35	chr15	78776778	.	C	T	253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.267;DP=558;ExcessHet=0;FS=4.36;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.12;MQRankSum=-12.7;QD=1.08;ReadPosRankSum=3.26;SOR=0.49	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr15	78776843	78776843	T	C	splicing	ADAMTS7	NM_014272:exon10:c.1468-2A>G	.	.	.	390	1119	13	0	0	13	0.00577521	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.999e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs761832715	0.0006	0.0038	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0.0002	0.0006	0.0001	0.0006	0.0002	0.0018	0.0005	0.0007	0.0018	0.0006	0.0041	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0003	0	0.0009	0	0.0004	0	0	0.0009	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12313	0.66684	D	-0.0609084	0.66268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.618340	0.73312	26.0	0.99143664291259825	0.53600	0.96440	0.69150	D	AEFBI	.	.	.	0.821604702649219	0.87435	9.217823	0.583033767872228	0.73725	6.017524	0.999366450694202	0.39301	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.24341	0.04801	0	0.877846	0.54522	3.85	3.85	0.43556	7.587000	0.81895	5.989000	0.52298	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.0:1.0	11.631	0.50434	496	0.76301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	401.43	35	chr15	78776843	.	T	C	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=459;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.65;MQRankSum=-6.713;QD=3.49;ReadPosRankSum=-1.744;SOR=0.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr15	78777523	78777523	G	A	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon9:c.C1388T:p.P463L	.	417	1099	6	0	0	6	0.00272232	.	.	.	2332272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	0.00509891206307	.	0.000599042	0.0008	0.0003	0.0003	0	0	0.0009	0.0017	0.0012	0.0001153	3	26028	rs548345891	0.0007	0.0013	0.0006	0.0008	0.0018	0.0007	0.0007	0.0016	0.0015	2.991e-05	0.0008	0.0002	0	0.0002	0.0016	0.0007	0.0007	0.0018	0.0013	0.0013	0.0013	0.0013	0.0033	0.0012	0.0011	0.0021	0.0019	0.0004	0	0.0028	0.0003	0.0002	9.416e-05	0.0068	0.0017	0.0024	0.0033	0.415	0.09989	T	0.406	0.14725	T	0.004	0.12183	B	0.01	0.14941	B	0.000429	0.44522	N	0.153344	0.533347	0.31472	N	-0.445	0.02820	N	3.93	0.03435	T	-3.27	0.65512	D	0.272	0.30800	-0.9344	0.43485	T	0.004	0.01365	T	10	0.022862792	0.00582	T	0.005099	0.12939	T	0.095	0.27398	.	.	0.332133492242	0.32818	0.46115626342589794	0.46033	0.208875763373	0.23355	0.39249420166	0.24020	T	0.073114	0.34618	T	-0.291586	0.09477	T	-0.656619	0.08497	T	0.0678239762783051	0.08343	T	0.765223	0.39255	T	0.03946207	0.05453	0.049569562	0.07604	0.03946207	0.05453	0.049569562	0.07603	-4.113	0.25481	T	.	.	0.055	0.00420	B	.	.	-0.072575	0.03807	0.808	0.49329394262681497	0.04191	0.11293	0.16538	N	AEFBI	0.062667	0.12060	N	-1.3346450811985	0.03287	0.1465657	-1.26748512958296	0.04877	0.2311172	0.118291593936136	0.16820	0.634777	0.41761	0	0.588015	0.36545	0	0.779548	0.98927	0	0.645665	0.59343	0	.	.	4.02	1.03	0.19161	1.214000	0.32023	0.256000	0.16486	-0.870000	0.02561	0.848000	0.30412	0.001000	0.17328	0.001000	0.02609	0.3221:0.0:0.6779:0.0	7.210	0.25103	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	545.43	41	chr15	78777523	.	G	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.7;DP=454;ExcessHet=0;FS=5.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.82;MQRankSum=-7.089;QD=6.49;ReadPosRankSum=1.73;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1249:.	9	0	1	0
chr15	79004044	79004044	C	T	exonic	RASGRF1	.	nonsynonymous SNV	RASGRF1:NM_001145648:exon15:c.G2207A:p.S736N,RASGRF1:NM_002891:exon16:c.G2255A:p.S752N	.	421	1094	7	0	0	7	0.00318907	.	.	.	703362	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0016	0.000599042	0.0043	0.0010	0.0024	0	0.0287	0.0040	0.0155	0.0008	0.0038551	596	154602	rs145347876	0.0037	0.0037	0.0037	0.0037	0.0036	0.0036	0.0036	0.0029	0.0028	0.0004	0.0025	0.0055	0	0.0284	0.0036	0.0030	0.0043	0.0009	0.0047	0.0047	0.0032	0.0062	0.0038	0.0044	0.0043	0.0030	0.0027	0.0007	0	0.0038	0.0037	0	0.0388	0.0034	0.0028	0.0038	0	0.0	0.91255	D	0.537	0.09863	T	0.001	0.07471	B	0.002	0.06944	B	0.000413	0.44736	D	0.226121	0.809136	0.81001	D	0.205	0.09354	N	0.73	0.50721	T	-1.14	0.29323	N	0.126	0.11912	-1.0660	0.10316	T	0.091	0.34737	T	10	0.004970163	0.00107	T	.	.	.	0.086	0.25016	.	.	0.198222871337	0.19423	0.5054266413826801	0.50464	0.540615076507	0.51250	0.598421573639	0.52682	T	0.163238	0.50821	T	-0.595707	0.00155	T	-0.629306	0.10467	T	0.0529129913753174	0.06004	T	0.70483	0.31518	T	0.09919186	0.23407	0.11590703	0.27980	0.09919186	0.23407	0.11590703	0.27979	-6.209	0.48012	T	.	.	0.144	0.31708	B	.;.	.;.	1.977746	0.25127	16.65	0.99075742088114094	0.51834	0.40419	0.26432	N	AEFDBCIJ	0.257119	0.37591	N	-0.447218501883295	0.23834	1.28276	-0.335745895459854	0.26953	1.492334	0.999998348468914	0.74766	0.493124	0.18060	0	0.587265	0.34161	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.35	3.41	0.38145	2.865000	0.48111	3.230000	0.36903	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.541000	0.29961	0.1804:0.8196:0.0:0.0	11.464	0.49473	789	0.46346	.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1834.43	39	chr15	79004044	.	C	T	1834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.922;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.503;SOR=0.751	GT:AD:DP:GQ:PL	0/1:43,73:116:99:1846,0,972	9	0	1	0
chr15	79907652	79907652	C	T	exonic	ST20-MTHFS	.	nonsynonymous SNV	ST20-MTHFS:NM_001199760:exon2:c.G22A:p.A8T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00536348738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.772e-06	7.634e-05	1.397e-05	0	1.158e-05	0	0	.	.	0	0	0	0	0	0	1.158e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.91255	T	0.546	0.92824	T	0.877	0.48223	P	0.682	0.53531	P	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.53943	T	0.17	0.05810	N	0.11	0.24758	-1.0246	0.22214	T	0.091	0.34901	T	7	0.10728598	0.19921	T	0.005363	0.13740	T	.	.	0.306	0.27646	0.228597637076	0.22478	0.13777622526195468	0.13701	0.233105781867	0.29030	.	.	.	0.001675	0.01102	T	-0.166453	0.25773	T	-0.476874	0.24780	T	0.573631167411804	0.35374	D	0.268673	0.08799	T	0.16562776	0.36847	0.17337786	0.39661	0.16562776	0.36847	0.17337786	0.39660	-3.54	0.16996	T	.	.	0.156	0.34492	B	.;.;.;.;.	.;.;.;.;.	0.552901	0.09217	5.997	0.99286237411001732	0.58078	0.01474	0.04912	N	AEFBI	0.032214	0.03595	N	-0.532673902993828	0.21030	1.113093	-0.769420325280148	0.15246	0.8008649	0.989549390624043	0.31860	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.158	0.158	0.14233	0.456000	0.21572	0.469000	0.18693	0.243000	0.18268	0.155000	0.23727	0.061000	0.22037	0.459000	0.28096	.	.	.	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	73.84	1	chr15	79907652	.	C	T	73.84	.	AC=2;AF=0.1;AN=20;DP=51;ExcessHet=0;FS=0;InbreedingCoeff=0.5494;MLEAC=1;MLEAF=0.05;MQ=52;QD=33.91;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,37:.	9	1	0	0
chr15	79907660	79907660	C	T	exonic	ST20-MTHFS	.	nonsynonymous SNV	ST20-MTHFS:NM_001199760:exon2:c.G14A:p.R5Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00347608664395	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262435049	1.308e-05	1.59e-05	1.603e-05	1.104e-05	1.324e-05	2.17e-06	8.1e-07	.	.	0	0	0	0	0	0	1.324e-05	0.0002	0	6.632e-06	6.583e-06	1.296e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.149	0.91255	T	0.134	0.34241	T	0.893	0.49136	P	0.417	0.44992	B	.	.	.	.	1	0.08975	N	.	.	.	0.84	0.54540	T	-0.52	0.27463	N	0.129	0.13055	-1.0513	0.14036	T	0.039	0.16677	T	7	0.079553455	0.12811	T	0.003476	0.07847	T	.	.	0.246	0.18139	0.28058544554	0.27657	0.23234113397252784	0.23149	0.301050943185	0.32451	.	.	.	7.58E-4	0.00354	T	-0.16532	0.25945	T	-0.475247	0.24952	T	0.0896094339684546	0.11172	T	0.355164	0.11326	T	0.2286426	0.45587	0.16586515	0.38348	0.2286426	0.45587	0.16586515	0.38347	-4.088	0.25113	T	.	.	0.185	0.40114	B	.;.;.;.;.	.;.;.;.;.	0.529417	0.08981	5.763	0.98777721133408203	0.46080	0.00879	0.03471	N	AEFBI	0.042334	0.06557	N	-0.771417090937093	0.14059	0.6972889	-0.961009303365537	0.10668	0.5387997	0.989549390624043	0.31860	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.158	0.158	0.14233	0.212000	0.17289	-0.327000	0.09919	0.243000	0.18268	0.068000	0.22015	0.006000	0.19429	0.190000	0.21601	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	74.03	1	chr15	79907660	.	C	T	74.03	.	AC=2;AF=0.1;AN=20;DP=55;ExcessHet=0;FS=0;InbreedingCoeff=0.5146;MLEAC=1;MLEAF=0.05;MQ=52;QD=26.04;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:1:3:.:.:0,3,25:.	9	1	0	0
chr15	79907667	79907667	G	A	exonic	ST20-MTHFS	.	stopgain	ST20-MTHFS:NM_001199760:exon2:c.C7T:p.R3X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs539806928	2.204e-05	7.952e-05	1.815e-05	2.467e-05	3.09e-05	5.86e-06	2.63e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	2.96e-05	0	3.09e-05	3.973e-05	3.946e-05	5.181e-05	2.71e-05	0.0004	1.726e-05	1.137e-05	7.307e-05	3.035e-05	0	0	6.56e-05	0	0	0	0	4.412e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266453	0.80121	D	0.144965	0.79865	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Tolerant;Tolerant;Tolerant	.;High;High;High;High	0.253960	0.06330	2.790	0.98920008727672537	0.48546	0.00302	0.01607	N	AEFBI	0.028759	0.02592	N	-0.30034552286281	0.29135	1.613058	-0.746204432322784	0.15816	0.8336569	0.989549390624043	0.31860	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	0.158	0.158	0.14233	-0.806000	0.04632	-3.020000	0.03134	-0.735000	0.03699	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	73.83	1	chr15	79907667	.	G	A	73.83	.	AC=2;AF=0.1;AN=20;DP=59;ExcessHet=0;FS=0;InbreedingCoeff=0.5551;MLEAC=1;MLEAF=0.05;MQ=52;QD=31.02;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,38:.	9	1	0	0
chr15	79907669	79907669	G	A	exonic	ST20-MTHFS	.	nonsynonymous SNV	ST20-MTHFS:NM_001199760:exon2:c.C5T:p.A2V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00383395925699	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1047070151	4.789e-05	5.407e-05	5.956e-05	4.004e-05	8.034e-05	2.019e-05	1.328e-05	3.146e-05	2.003e-05	0	0	0	0	0	0	8.034e-05	0	3.32e-05	6.628e-06	1.317e-05	1.296e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.019	0.92824	D	0.976	0.58310	D	0.695	0.53983	P	.	.	.	.	1	0.08975	N	.	.	.	0.94	0.53943	T	-0.38	0.13418	N	0.152	0.15609	-1.0463	0.15447	T	0.052	0.22037	T	7	0.15750873	0.29640	T	0.003834	0.08961	T	.	.	0.24	0.17218	0.167679373172	0.16340	0.49377512060465417	0.49298	0.878436340084	0.69665	.	.	.	0.001829	0.01251	T	-0.158378	0.27009	T	-0.465276	0.26027	T	0.222441834944697	0.21585	T	0.257674	0.05863	T	0.0660743	0.14183	0.09937215	0.23725	0.0660743	0.14182	0.09937215	0.23724	-3.596	0.17799	T	.	.	0.228	0.46013	B	.;.;.;.;.	.;.;.;.;.	0.540969	0.09098	5.879	0.99694594894829669	0.80180	0.00754	0.03131	N	AEFBI	0.031638	0.03423	N	-0.7257641928432	0.15299	0.7698459	-0.967278181937622	0.10525	0.5306387	0.989549390624043	0.31860	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	0.158	0.158	0.14233	0.252000	0.18046	-0.501000	0.08802	-0.735000	0.03699	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	940	0.13648	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	73.83	1	chr15	79907669	.	G	A	73.83	.	AC=2;AF=0.1;AN=20;DP=59;ExcessHet=0;FS=0;InbreedingCoeff=0.5551;MLEAC=1;MLEAF=0.05;MQ=52;QD=33.75;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,38:.	9	1	0	0
chr15	80979281	80979281	C	T	exonic	MESD	.	nonsynonymous SNV	MESD:NM_015154:exon3:c.G643A:p.D215N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00374647076671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.033	0.53072	D	0.003	0.11197	B	0.005	0.11217	B	0.735015	0.06393	N	1.113020	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.65	0.18877	N	0.07	0.04307	-1.0125	0.26133	T	0.063	0.26172	T	9	0.06306937	0.08161	T	0.003746	0.08682	T	0.043	0.11576	0.339	0.32979	0.128874641272	0.12493	0.09925729230670419	0.09856	0.150817111893	0.17009	0.336606562138	0.15930	T	0.174057	0.52315	T	-0.302098	0.08464	T	-0.671719	0.07498	T	0.096747561527059	0.11995	T	0.676232	0.28483	T	0.095348746	0.22439	0.046599172	0.06530	0.095348746	0.22438	0.046599172	0.06530	-3.729	0.19747	T	.	.	0.065	0.01884	B	.;.	.;.	1.688363	0.21515	15.23	0.98883705611896733	0.47877	0.35702	0.25363	N	AEFBI	0.116050	0.22792	N	-0.886794806833915	0.11156	0.5368538	-0.856471271489746	0.13132	0.6795677	0.996541291354058	0.34819	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	1.12	0.19700	0.657000	0.24647	-0.506000	0.08774	0.599000	0.40250	0.228000	0.24622	0.000000	0.08366	0.237000	0.22922	0.0:0.6053:0.0:0.3947	7.887	0.28822	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	169.13	34	chr15	80979281	.	C	T	169.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.089;DP=647;ExcessHet=0.2348;FS=150.547;InbreedingCoeff=-0.1391;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=2.43;SOR=7.903	GT:AD:DP:GQ:PL	0/1:52,16:68:99:102,0,968	8	0	2	0
chr15	81265752	81265752	A	G	exonic	IL16	.	nonsynonymous SNV	IL16:NM_001172128:exon4:c.A515G:p.N172S,IL16:NM_001352686:exon4:c.A668G:p.N223S,IL16:NM_172217:exon4:c.A515G:p.N172S	.	414	1101	7	0	0	7	0.00316885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0074	0.00778754	0.0039	0.0202	0.0078	0	0	0.0026	0.0072	0.0003	0.0037257	576	154602	rs113332687	0.0027	0.0027	0.0027	0.0026	0.0185	0.0026	0.0026	0.0173	0.0168	0.0185	0.0097	0.0071	0	3.745e-05	0.0182	0.0019	0.0062	0.0003	0.0084	0.0084	0.0081	0.0087	0.0194	0.0080	0.0079	0.0183	0.0178	0.0194	0.0011	0.0166	0.0069	0	0	0.0204	0.0023	0.0142	0.0004	0.441	0.09776	T	0.849	0.03517	T	0.02	0.18235	B	0.015	0.17295	B	0.789746	0.09406	N	0.891555	0.987994	0.24458	N	0.625	0.15840	N	2.4	0.15608	T	-0.61	0.23808	N	0.053	0.02759	-0.9020	0.47782	T	0.006	0.02206	T	10	0.0039637387	0.00076	T	.	.	.	0.043	0.11576	.	.	0.0884992946249	0.08302	0.2180917213140332	0.21725	0.0855303882618	0.09661	0.279260963202	0.07389	T	0.091636	0.41030	T	-0.727889	0.00025	T	-0.802743	0.01835	T	0.004149775555074	0.00044	T	0.775622	0.40735	T	0.036475487	0.04493	0.04063871	0.04439	0.036475487	0.04493	0.04063871	0.04439	-3.057	0.10809	T	.	.	0.055	0.00382	B	.;.;.	.;.;.	-0.052769	0.03933	0.873	0.6778320916592675	0.08459	0.51459	0.28900	D	AEFDGBHCI	0.051266	0.09041	N	-1.30203455344777	0.03652	0.1635313	-1.28811543319579	0.04591	0.2168827	0.999997098285051	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	4.45	-3.76	0.04074	0.952000	0.28747	0.026000	0.13662	-0.054000	0.16847	0.929000	0.32243	0.000000	0.08366	0.161000	0.20682	0.5063:0.0:0.4937:0.0	11.310	0.48595	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037261	0.121212	0.051630	0.002924	0.050000	0.000000	0.006098	0.007576	0.05	1105.43	34	chr15	81265752	.	A	G	1105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.731;DP=440;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.161;SOR=0.85	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1117,0,1323	9	0	1	0
chr15	81299992	81299992	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G563A:p.R188Q,IL16:NM_001172128:exon14:c.G2666A:p.R889Q,IL16:NM_001352686:exon14:c.G2819A:p.R940Q,IL16:NM_172217:exon14:c.G2666A:p.R889Q,IL16:NM_001352684:exon15:c.G836A:p.R279Q,IL16:NM_001352685:exon15:c.G2156A:p.R719Q	.	.	.	.	.	.	.	.	.	.	.	714646	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0079	0.00738818	0.0024	0.0268	0.0010	0	0	0	0	0	0.0021733	336	154602	rs17875512	0.0007	0.0007	0.0008	0.0006	0.0263	0.0007	0.0007	0.0249	0.0243	0.0263	0.0012	0	5.058e-05	0	0	2.085e-05	0.0011	5.945e-05	0.0071	0.0071	0.0074	0.0068	0.0251	0.0067	0.0066	0.0238	0.0233	0.0251	0	0.0016	0	0.0002	0	0	4.411e-05	0.0043	0	0.851	0.03441	T	0.69	0.05939	T	0.01	0.17786	B	0.005	0.11217	B	0.931638	0.08417	N	0.955931	1	0.08975	N	0.57	0.15267	N	3.01	0.09075	T	0.36	0.07299	N	0.037	0.02272	-0.9338	0.43575	T	0.005	0.01797	T	10	0.0029067397	0.00047	T	.	.	.	0.021	0.04004	.	.	0.0297737177859	0.01360	0.13561508173948988	0.13485	0.125427775553	0.14139	0.222683817148	0.01470	T	0.085034	0.37411	T	-0.675378	0.00051	T	-0.723313	0.04637	T	0.00515059042254766	0.00056	T	0.756024	0.37907	T	0.02291157	0.00988	0.037191633	0.03321	0.02291157	0.00988	0.037191633	0.03321	-3.719	0.19599	T	.	.	0.068	0.04041	B	.;.;.	.;.;.	-0.727714	0.01257	0.065	0.80264653686563059	0.13121	0.01435	0.04825	N	AEFGBHCI	0.051139	0.09005	N	-1.4606899963958	0.02134	0.09390787	-1.50783926441269	0.02283	0.1047688	0.999999679529881	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.53	-3.93	0.03868	-0.823000	0.04550	-6.259000	0.01449	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7613:0.0:0.2387:0.0	13.125	0.58763	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1319.43	33	chr15	81299992	.	G	A	1319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=1.53;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1101	9	0	1	0
chr15	81322461	81322461	C	T	exonic	STARD5	.	nonsynonymous SNV	STARD5:NM_181900:exon3:c.G229A:p.V77M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0597360022304	0.0057	0.00199681	0.0053	0.0015	0.0043	0	0.0080	0.0076	0.0099	0.0008	0.0055239	854	154602	rs138923627	0.0072	0.0072	0.0073	0.0072	0.0085	0.0071	0.0070	0.0083	0.0083	0.0013	0.0019	0.0040	0	0.0083	0.0026	0.0085	0.0059	0.0010	0.0049	0.0049	0.0052	0.0045	0.0084	0.0046	0.0045	0.0078	0.0076	0.0017	0.0022	0.0010	0.0061	0	0.0054	0	0.0084	0.0019	0.0002	0.098	0.30800	T	0.101	0.38596	T	0.444	0.35956	B	0.055	0.25995	B	0.592850	0.11032	N	0.826633	1	0.08975	N	1.385	0.34509	L	-1.78	0.83737	D	-0.4	0.13805	N	0.343	0.38438	-0.7375	0.58581	T	0.273	0.64515	T	10	0.010636598	0.00236	T	0.059736	0.67764	D	0.219	0.51417	.	.	0.69773716983	0.69512	0.27686567014136493	0.27599	0.196326814967	0.21991	0.3354139328	0.15750	T	0.111281	0.42665	T	-0.422162	0.01657	T	-0.368795	0.37030	T	0.00615744866149236	0.00068	T	0.875013	0.58582	D	0.15914816	0.35765	0.10459949	0.25127	0.15914816	0.35765	0.10459949	0.25126	-4.3	0.28177	T	.	.	0.128	0.27343	B	.	.	2.628235	0.34173	19.55	0.98726751472176033	0.45289	0.48765	0.28281	N	AEFDBCI	0.117195	0.22969	N	-0.248072187610428	0.31179	1.745807	-0.212073263361236	0.31101	1.757036	0.999952129943829	0.48110	0.646311	0.45356	0	0.581341	0.33841	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.51	3.18	0.35615	2.587000	0.45793	3.125000	0.36417	0.599000	0.40250	0.969000	0.34210	0.072000	0.22236	0.714000	0.34579	0.0:0.7006:0.169:0.1304	7.949	0.29163	900	0.24599	START domain|START domain|START domain	.	.	.	.	rs138923627	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1678.43	177	chr15	81322461	.	C	T	1678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.641;DP=507;ExcessHet=0;FS=1.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=0.63;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	9	0	1	0
chr15	81332888	81332890	TCT	-	exonic	TMC3	.	nonframeshift deletion	TMC3:NM_001080532:exon22:c.2832_2834del:p.E947del	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00399361	0.0020	0.0049	0.0060	0	0	0.0019	0.0034	0.0003	0.00073	19	26028	rs556446587	0.0018	0.0018	0.0018	0.0018	0.0139	0.0017	0.0017	0.0114	0.0105	0.0039	0.0073	0.0051	0	3.79e-05	0.0139	0.0015	0.0039	0.0003	0.0032	0.0032	0.0031	0.0034	0.0099	0.0030	0.0029	0.0086	0.0081	0.0042	0	0.0099	0.0052	0	0	0.0136	0.0019	0.0061	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032729	0.106061	0.044837	0.008772	0.000000	0.000000	0.003049	0.007576	0.05	1202.39	97	chr15	81332887	.	CTCT	C	1202.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.58;DP=675;ExcessHet=0;FS=6.122;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.241;SOR=1.405	GT:AD:DP:GQ:PL	0/1:43,32:75:99:1214,0,1628	9	0	1	0
chr15	82264770	82264770	G	A	exonic	SAXO2	.	nonsynonymous SNV	SAXO2:NM_001348705:exon4:c.G206A:p.S69N	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.669e-06	3.181e-06	0	6.773e-06	1.616e-05	6.1e-07	2.3e-07	.	.	0	0	0	0	0	0	3.17e-06	0	1.616e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	360.44	21	chr15	82264770	.	G	A	360.44	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.44;DP=165;ExcessHet=0;FS=0;InbreedingCoeff=-0.0538;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.97;ReadPosRankSum=1.05;SOR=0.61	GT:AD:DP:GQ:PL	0/0:7,0:7:18:0,18,270	9	0	1	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	59.84	117	chr15	82344942	.	T	*	59.84	.	AC=2;AF=0.333;AN=6;BaseQRankSum=2.45;DP=914;ExcessHet=0.9691;FS=26.476;InbreedingCoeff=-0.3156;MLEAC=3;MLEAF=0.5;MQ=50.96;MQRankSum=-2.926;QD=0.22;ReadPosRankSum=-0.662;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,27:82:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:587,0,1761:82344920	1	0	2	7
chr15	82344961	82344961	C	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	58.34	122	chr15	82344961	.	C	*	58.34	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.59;DP=925;ExcessHet=0.7463;FS=31.213;InbreedingCoeff=-0.2122;MLEAC=2;MLEAF=0.111;MQ=50.87;MQRankSum=-3.044;QD=0.21;ReadPosRankSum=0.146;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,27:82:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:587,0,1761:82344920	7	0	2	1
chr15	82345004	82345046	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	812.61	68	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG	*	812.61	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.39;DP=691;ExcessHet=0.0514;FS=21.632;InbreedingCoeff=-0.084;MLEAC=2;MLEAF=0.25;MQ=48.06;MQRankSum=0.618;QD=4.1;ReadPosRankSum=2.91;SOR=1.142	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,27:82:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:587,0,1761:82344920	3	0	1	6
chr15	82434226	82434246	GTGAACAGGAGGAGAGGCTGT	-	exonic	GOLGA6L9	.	nonframeshift deletion	GOLGA6L9:NM_001291420:exon5:c.152_172del:p.C65_L71del,GOLGA6L9:NM_198181:exon6:c.626_646del:p.C223_L229del	.	467	1047	8	0	0	8	0.0038059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1391621325	0.0002	0.0006	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0006	0.0005	0.0002	0.0002	0.0009	0.0002	0.0007	0.0001	0.0003	0.0004	0.0021	0.0062	0.0022	0.0021	0.0049	0.0019	0.0019	0.0044	0.0041	0.0049	0	0.0023	0.0012	0.0022	0.0009	0.0069	0.0007	0.0035	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	204.39	56	chr15	82434225	.	CGTGAACAGGAGGAGAGGCTGT	C	204.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.996;DP=584;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.07;MQRankSum=-6.896;QD=1.62;ReadPosRankSum=0.699;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1262:.	9	0	1	0
chr15	82434296	82434296	G	T	exonic	GOLGA6L9	.	nonsynonymous SNV	GOLGA6L9:NM_001291420:exon5:c.G222T:p.Q74H,GOLGA6L9:NM_198181:exon6:c.G696T:p.Q232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.102764349659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.583e-06	0.0001	0	1.348e-05	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.186	0.28860	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.24	0.30952	L	.	.	.	.	.	.	0.113	0.10056	-0.9932	0.31775	T	0.050	0.21378	T	5	0.10581961	0.19578	T	0.102764	0.77642	D	.	.	.	.	0.0297737177859	0.01360	0.030203817093891437	0.02969	.	.	0.65699505806	0.60980	T	0.046	0.27322	T	-0.176958	0.24190	T	-0.491964	0.23184	T	0.056914291391867	0.06674	T	0.673733	0.28234	T	0.040667992	0.05847	0.06111681	0.11748	0.040667992	0.05846	0.06111681	0.11748	-9.986	0.73828	D	.	.	0.591	0.68499	P	.	.	1.320338	0.17245	13.05	0.85796948858333644	0.16118	0.33114	0.24750	N	AEFI	0.086562	0.17551	N	-0.444101084708952	0.23940	1.289186	-0.636469507733856	0.18559	0.9919549	3.86668271368846E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	0.119	0.119	0.13989	0.835000	0.27184	-0.068000	0.12334	0.198000	0.17903	0.005000	0.17040	0.000000	0.08366	0.009000	0.08673	1.0E-4:0.4779:0.5218:1.0E-4	3.827	0.08370	556	0.71678	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	110.43	56	chr15	82434296	.	G	T	110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.075;DP=522;ExcessHet=0;FS=1.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.57;MQRankSum=-3.126;QD=1.01;ReadPosRankSum=-3.056;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1262:.	9	0	1	0
chr15	82662825	82662825	A	G	exonic	AP3B2	.	nonsynonymous SNV	AP3B2:NM_001278511:exon21:c.T2549C:p.F850S,AP3B2:NM_004644:exon22:c.T2645C:p.F882S,AP3B2:NM_001278512:exon23:c.T2702C:p.F901S	Epileptic encephalopathy, early infantile, 48, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2106765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0256247794079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398775432	2.737e-06	2.736e-06	1.361e-06	4.127e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.08710	T	0.409	0.14588	T	0.958	0.54977	D	0.477	0.46994	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.57	0.29342	T	-1.22	0.34198	N	0.755	0.75374	-1.0401	0.17283	T	0.129	0.43828	T	10	0.40342513	0.55726	T	0.025625	0.48589	D	0.171	0.43483	0.361	0.36548	0.396617757867	0.39272	0.5114965828692793	0.51071	0.125819403588	0.14181	0.696307182312	0.66611	T	0.137326	0.47020	T	0.0858778	0.62721	D	-0.114419	0.62256	T	0.922526895999908	0.58271	D	0.89841	0.64469	D	0.31957614	0.54604	0.2992947	0.55963	0.31957614	0.54604	0.2992947	0.55962	-6.451	0.50116	T	.	.	0.748	0.74977	P	.;.;.;.;.	.;.;.;.;.	3.936624	0.57579	23.9	0.99519686334512103	0.69161	0.46599	0.27796	N	AEFBCI	0.875857	0.79951	D	0.457206126146642	0.64613	4.719843	0.534988123950168	0.70362	5.493737	0.989546979791404	0.31860	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	7.077000	0.76497	11.041000	0.85176	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	16.588	0.84597	516	0.74704	AP-3 complex subunit beta, C-terminal domain|AP-3 complex subunit beta, C-terminal domain;AP-3 complex subunit beta, C-terminal domain|AP-3 complex subunit beta, C-terminal domain;AP-3 complex subunit beta, C-terminal domain|AP-3 complex subunit beta, C-terminal domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1333.43	34	chr15	82662825	.	A	G	1333.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.977;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.176;SOR=0.664	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1272	9	0	1	0
chr15	82810237	82810237	C	T	exonic	WHAMM	.	nonsynonymous SNV	WHAMM:NM_001080435:exon1:c.C511T:p.P171S	.	436	1078	8	0	0	8	0.00369686	.	.	.	3352750	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.060135911408	.	.	0.0007	0	0	0	.	0	0	0.0009	4.53e-05	7	154602	rs751761714	0.0002	0.0002	0.0001	0.0002	0.0014	0.0001	0.0001	0.0005	0.0004	0	0.0003	0	0	0	0.0014	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	7.114e-05	5.766e-05	0.0001	8.319e-05	4.834e-05	0	0.0003	0	0	0	0	0.0001	0	0.0002	0.472	0.08433	T	0.763	0.04587	T	0.123	0.26785	B	0.034	0.22546	B	0.444282	0.12588	N	0.749563	0.533783	0.31997	D	1.265	0.31966	L	3.24	0.06845	T	-0.66	0.19085	N	0.077	0.05162	-1.0461	0.15505	T	0.017	0.06759	T	10	0.038008124	0.02191	T	0.060136	0.67899	D	0.019	0.03383	.	.	0.0846915920261	0.08053	0.11628118282059044	0.11556	2.12773366393	0.95105	0.894999980927	0.95867	D	0.00109	0.00611	T	-0.43216	0.01439	T	-0.492102	0.23171	T	0.0949392853817235	0.11792	T	0.507449	0.16094	T	0.056861203	0.11243	0.07927789	0.17834	0.056861203	0.11242	0.07927789	0.17834	-3.855	0.21629	T	.	.	0.139	0.30397	B	.	.	2.937337	0.39040	20.9	0.92561393407009995	0.22014	0.24261	0.22338	N	AEFDBHCIJ	0.032605	0.03714	N	-0.634498064928836	0.17915	0.9259346	-0.630523109753826	0.18710	1.000737	0.999999999898395	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	3.21	2.24	0.27264	0.329000	0.19442	3.500000	0.38772	0.505000	0.23025	0.997000	0.40164	0.998000	0.33993	0.014000	0.10232	0.0:0.6893:0.1942:0.1165	7.147	0.24766	498	0.76166	JMY/WHAMM, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	221.43	28	chr15	82810237	.	C	T	221.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.922;DP=298;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.71;ReadPosRankSum=0.075;SOR=0.914	GT:AD:DP:GQ:PL	0/0:23,0:23:69:0,69,648	9	0	1	0
chr15	83011579	83011579	T	C	exonic	C15orf40	.	nonsynonymous SNV	C15orf40:NM_001160113:exon1:c.A29G:p.H10R,C15orf40:NM_001160114:exon1:c.A29G:p.H10R,C15orf40:NM_001160115:exon1:c.A29G:p.H10R,C15orf40:NM_001160116:exon1:c.A29G:p.H10R,C15orf40:NM_144597:exon1:c.A29G:p.H10R	.	430	1089	1	1	1	4	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	.	0.0071885	0.0023	0	0	0.0005	0	2.055e-05	0.0016	0.0138	0.0002393	37	154602	rs553737044	0.0008	0.0008	0.0004	0.0011	0.0118	0.0007	0.0007	0.0112	0.0110	3.037e-05	0	0	2.547e-05	0	0.0005	1.263e-05	0.0010	0.0118	0.0005	0.0005	0.0002	0.0008	0.0153	0.0004	0.0004	0.0125	0.0115	4.81e-05	0	0	0	0.0008	0	0	1.47e-05	0	0.0153	0.08	0.48186	T	0.545	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	0.345	0.11182	N	.	.	.	-0.01	0.17834	N	0.113	0.12484	-1.0011	0.29602	T	0.030	0.13023	T	8	0.0035759509	0.00065	T	.	.	.	0.297	0.61730	0.158	0.06178	0.107399877778	0.10242	0.2217407424840517	0.22089	0.0155615849048	0.01485	.	.	.	0.01491	0.12608	T	-0.423909	0.01616	T	-0.371305	0.36735	T	0.0226863289813125	0.00986	T	0.394461	0.11926	T	0.038203724	0.05044	0.05787541	0.10597	0.038203724	0.05044	0.05787541	0.10596	-2.736	0.09569	T	.	.	0.061	0.08899	B	.;.;.;.;.	.;.;.;.;.	-1.889414	0.00130	0.002	0.50870333004880053	0.04461	0.00981	0.03737	N	ALL	0.038427	0.05438	N	-1.85853058044575	0.00417	0.01793663	-1.94578742868568	0.00396	0.0175213	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.61	-7.22	0.01335	-2.416000	0.01113	-9.092000	0.00868	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1275:0.5797:0.129:0.1637	5.916	0.18293	463	0.78548	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002028	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	443.43	41	chr15	83011579	.	T	C	443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.445;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.821;SOR=0.651	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr15	84014619	84014619	T	C	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon24:c.T4051C:p.S1351P,ADAMTSL3:NM_207517:exon24:c.T4051C:p.S1351P	.	424	1093	5	0	0	5	0.00228206	.	.	.	2371944	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.702	0.163038661777	.	.	0.0002	0	8.639e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs570022848	6.842e-05	6.84e-05	4.084e-05	9.628e-05	0.0011	5.714e-05	5.327e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	3.312e-05	0.0011	7.222e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.968e-05	3.125e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.006	0.65419	D	0.006	0.70582	D	0.999	0.77913	D	0.977	0.77976	D	0.001813	0.37945	N	0.000000	0.998608	0.45151	D	3.275	0.90144	M	-0.4	0.69287	T	-2.3	0.53898	N	0.903	0.90363	0.115	0.84440	D	0.504	0.81320	D	10	0.6315626	0.68546	D	0.163039	0.84247	D	0.702	0.89284	0.76	0.88892	0.856079322986	0.85469	0.9060120976334395	0.90574	0.65019096863	0.58310	0.465620040894	0.34080	T	0.104485	0.41409	T	-0.0115408	0.50049	T	0.180567	0.82029	D	0.406232155376292	0.29176	T	0.822018	0.48145	T	0.8991949	0.91311	0.8913427	0.94362	0.8991949	0.91312	0.8913427	0.94362	-11.783	0.84744	D	.	.	0.716	0.73637	P	.;.	.;.	4.291493	0.65449	24.8	0.99855756847134702	0.93458	0.88343	0.48227	D	AEFI	0.791736	0.72024	D	0.688852834464214	0.78903	6.966018	0.606033261482406	0.75376	6.299814	6.40837120482374E-4	0.07505	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.82	0.43153	3.751000	0.54882	2.703000	0.34176	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1506:0.8494	11.460	0.49454	635	0.64580	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1691.43	35	chr15	84014619	.	T	C	1691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.741;DP=439;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.201;SOR=0.78	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	9	0	1	0
chr15	84025278	84025278	G	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon27:c.G4498A:p.G1500S,ADAMTSL3:NM_207517:exon27:c.G4498A:p.G1500S	.	424	1090	8	0	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0851577928096	7.7e-05	0.000399361	0.0002	0	0.0004	0	0	0.0002	0	0.0004	0.000194	30	154602	rs138649477	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0024	0.0021	8.962e-05	0.0002	7.672e-05	0.0002	1.874e-05	0.0036	0.0001	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	2.406e-05	0	0.0001	0	0.0002	0	0	0.0002	0.0019	0.0004	0.012	0.54683	D	0.045	0.49663	D	1.0	0.90584	D	0.93	0.77976	D	0.002038	0.37411	N	0.000000	0.986653	0.40465	D	3.845	0.95734	H	-0.46	0.70014	T	-3.36	0.66549	D	0.734	0.73465	0.269	0.87047	D	0.552	0.83626	D	10	0.6886272	0.71717	D	0.085158	0.74475	D	0.502	0.78475	.	.	0.878794633686	0.87760	0.8455936807256719	0.84520	0.551534003631	0.51990	0.394687086344	0.24327	T	0.05578	0.30103	T	-0.0307606	0.47306	T	0.0480393	0.73453	D	0.482312142848969	0.31982	T	0.862414	0.55771	D	0.31072298	0.53848	0.30939978	0.56955	0.31072298	0.53848	0.30939978	0.56954	-9.111	0.68408	D	.	.	0.117	0.34160	B	.;.	.;.	5.259854	0.88314	29.6	0.99862429860722435	0.94093	0.92717	0.56374	D	AEFDGI	0.618511	0.60429	D	0.716449214924806	0.80708	7.355049	0.603281198108359	0.75179	6.264835	0.965308700839249	0.28822	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	5.15	0.70287	5.632000	0.67493	9.233000	0.79371	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:0.0:1.0:0.0	15.931	0.79444	634	0.64659	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1820.43	34	chr15	84025278	.	G	A	1820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.611;DP=457;ExcessHet=0;FS=6.03;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.182;SOR=0.37	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1373	9	0	1	0
chr15	84031386	84031386	G	T	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon28:c.G4708T:p.A1570S,ADAMTSL3:NM_207517:exon28:c.G4708T:p.A1570S	.	424	1093	5	0	0	5	0.00228206	.	.	.	2371945	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.00738172399669	.	.	0.0002	0	8.639e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs559759377	6.841e-05	6.84e-05	4.084e-05	9.626e-05	0.0011	5.713e-05	5.326e-05	0.0009	0.0009	0	0	0	0	0	0.0002	0	3.312e-05	0.0011	7.223e-05	7.218e-05	1.285e-05	0.0001	0.0023	3.969e-05	3.126e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.498	0.07944	T	0.438	0.13403	T	0.094	0.25382	B	0.026	0.20792	B	0.083526	0.02380	N	2.107800	1	0.08975	N	0.375	0.12094	N	-0.05	0.63403	T	-0.31	0.14000	N	0.085	0.06190	-1.0297	0.20551	T	0.082	0.32178	T	10	0.012741715	0.00273	T	0.007382	0.19576	T	0.069	0.20116	0.232	0.16005	0.29527378943	0.29149	0.16230224484662414	0.16150	0.113792559973	0.12838	0.223155230284	0.01500	T	0.003465	0.02869	T	-0.537618	0.00346	T	-0.575107	0.14984	T	0.021492192523295	0.00853	T	0.684632	0.29972	T	0.039612155	0.05502	0.038641106	0.03776	0.039612155	0.05501	0.038641106	0.03776	-2.651	0.06901	T	.	.	0.075	0.06571	B	.;.	.;.	0.191812	0.05780	2.221	0.73650190702005969	0.10405	0.02040	0.06108	N	AEFDBI	0.073820	0.14778	N	-1.19853798048204	0.05022	0.2280003	-1.17800556851023	0.06279	0.3017148	9.447503794953E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.93	-4.06	0.03718	-0.826000	0.04536	0.111000	0.14782	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.1892:0.4775:0.2206:0.1127	4.017	0.09136	640	0.64132	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1398.43	34	chr15	84031386	.	G	T	1398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.255;DP=407;ExcessHet=0;FS=6.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.12;SOR=0.849	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1150	9	0	1	0
chr15	84512229	84512231	CTC	-	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234003760	0.0009	0.0007	0.0010	0.0009	0.0013	0.0009	0.0008	0.0012	0.0011	0.0003	0.0001	0	3.151e-05	0.0003	0	0.0013	0.0009	0.0007	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	9.356e-05	0	0.0004	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	258.39	33	chr15	84512228	.	TCTC	T	258.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.147;DP=338;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.3;MQRankSum=0.289;QD=5.74;ReadPosRankSum=-0.44;SOR=0.382	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1243	9	0	1	0
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2761.96	199	chr15	84512452	.	C	*	2761.96	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.411;DP=1594;ExcessHet=4.5998;FS=0.59;InbreedingCoeff=-0.4286;MLEAC=2;MLEAF=0.1;MQ=44.5;MQRankSum=-1.017;QD=2.35;ReadPosRankSum=0.115;SOR=0.639	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:146,97:245:99:.:.:1005,0,5433:.	8	0	2	0
chr15	84512504	84512504	C	T	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	661	856	2	1	2	6	0.002331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs199810866	0.0016	0.0040	0.0014	0.0017	0.0017	0.0015	0.0015	0.0016	0.0016	0.0002	0.0007	0.0020	0	0.0023	0.0003	0.0017	0.0025	0.0006	0.0021	0.0041	0.0023	0.0020	0.0041	0.0019	0.0019	0.0037	0.0035	0.0003	0.0115	0.0009	0.0014	0	0.0019	0	0.0041	0.0011	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	230.43	230	chr15	84512504	.	C	T	230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.912;DP=1294;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.04;MQRankSum=-0.07;QD=0.61;ReadPosRankSum=0.637;SOR=0.742	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1436	9	0	1	0
chr15	84512517	84512517	-	AGCCTCTCCTCCTGTTCACAC	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0074	0.0036	0.0036	0.0225	0.0035	0.0035	0.0211	0.0206	0.0003	0.0019	0.0031	0.0225	0.0093	0.0059	0.0031	0.0049	0.0007	0.0010	0.0031	0.0010	0.0010	0.0019	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0013	0.0004	0.0019	0.0015	0	0.0015	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	669.54	36	chr15	84512517	.	T	TAGCCTCTCCTCCTGTTCACAC	669.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.649;DP=796;ExcessHet=0.2348;FS=4.053;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=46.45;MQRankSum=-2.969;QD=2.61;ReadPosRankSum=0.799;SOR=1.081	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1436	9	0	1	0
chr15	84512517	84512517	T	0	exonic	GOLGA6L4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	669.54	36	chr15	84512517	.	T	*	669.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.649;DP=796;ExcessHet=0.2348;FS=4.053;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=46.45;MQRankSum=-2.969;QD=2.61;ReadPosRankSum=0.799;SOR=1.081	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1436	9	0	1	0
chr15	84657178	84657178	G	A	exonic	NMB	.	stopgain	NMB:NM_021077:exon2:c.C328T:p.Q110X,NMB:NM_205858:exon2:c.C328T:p.Q110X	.	428	1090	4	0	0	4	0.0018315	0.0171	0.364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.903e-05	0	0.0001	0	0	0	0	0.0003	3.88e-05	6	154602	rs757997461	8.92e-06	1.026e-05	5.461e-06	1.242e-05	0.0001	4.98e-06	3.84e-06	8.064e-05	6.288e-05	0	0	0	0	0	0	0	1.663e-05	0.0001	2.626e-05	2.624e-05	0	5.368e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.011712	0.29430	N	0.291814	0.999383	0.81001	D	.	.	.	.	.	.	.	.	.	0.971	0.98167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364351	0.87584	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.290127	0.97390	37	0.9902331302991616	0.50634	0.78300	0.38610	D	AEFDGBCI	0.392013	0.47023	N	0.394487874990972	0.61124	4.309265	0.195890310465937	0.49619	3.163131	0.999999200154633	0.74766	0.740716	0.97744	0	0.588066	0.40923	0	0.0	0.00061	3	0.655142	0.61905	0	.	.	5.31	4.39	0.52211	3.060000	0.49648	8.482000	0.77302	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.082000	0.17360	0.0838:0.0:0.9162:0.0	12.849	0.57233	701	0.57775	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	406.43	33	chr15	84657178	.	G	A	406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.634;DP=311;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.325;SOR=0.776	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1224	9	0	1	0
chr15	84863589	84863589	A	G	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon11:c.A4448G:p.K1483R	.	429	1088	5	0	0	5	0.00229253	.	.	.	409363	Cardiomyopathy,_familial_hypertrophic_27|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0054838,MedGen:C4748014,OMIM:618052|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0134123272869	7.7e-05	.	8.368e-05	0	0	0	0	6.063e-05	0	0.0004	7.12e-05	11	154602	rs367667489	7.525e-05	7.593e-05	7.487e-05	7.563e-05	0.0009	6.382e-05	5.938e-05	0.0003	0.0002	5.974e-05	0	0	0	0	0.0009	5.935e-05	8.279e-05	0.0004	5.911e-05	5.905e-05	6.425e-05	5.372e-05	0.0001	3.076e-05	2.209e-05	4.766e-05	3.34e-05	0	0	6.533e-05	0	0	0	0	0.0001	0.0005	0	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.994685	0.42376	D	2.215	0.62545	M	3.15	0.07820	T	-2.9	0.60827	D	0.41	0.45047	-1.1684	0.00571	T	0.058	0.24242	T	10	0.27417237	0.44969	T	0.013412	0.32792	T	0.258	0.56959	.	.	0.363944505237	0.36005	0.4509781744802736	0.45015	0.19089632529	0.21403	0.607100605965	0.53907	T	0.118142	0.43873	T	-0.363026	0.03962	T	-0.437272	0.29114	T	0.20904499521783	0.20903	T	0.812719	0.46458	T	0.58016276	0.71617	0.5809324	0.75709	0.58016276	0.71619	0.5809324	0.75710	-8.277	0.62942	D	.	.	0.085	0.10304	B	.	.	3.800956	0.54768	23.5	0.99887090333759709	0.96204	0.99134	0.91726	D	AEFDBI	0.805588	0.73013	D	0.494316788353411	0.66757	4.991595	0.476053508040557	0.66406	4.948028	0.999999995002839	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	4.68	0.58319	7.031000	0.76223	5.286000	0.48194	-0.054000	0.16847	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.9206:0.0:0.0794:0.0	10.020	0.41207	641	0.64016	MHCK/EF2 kinase|MHCK/EF2 kinase|MHCK/EF2 kinase	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.003788	0.05	1430.43	37	chr15	84863589	.	A	G	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.181;DP=420;ExcessHet=0;FS=3.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.695;SOR=0.536	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	0	1	0
chr15	85243973	85243973	A	G	exonic	GOLGA6L3	.	nonsynonymous SNV	GOLGA6L3:NM_001310153:exon5:c.A367G:p.K123E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260654771	0.0006	0.0006	0.0005	0.0006	0.0013	0.0005	0.0005	0.0006	0.0006	0	4.492e-05	0	0	0.0002	0.0013	0.0007	0.0004	0.0007	0.0004	0.0003	0.0004	0.0004	0.0007	0.0003	0.0002	0.0005	0.0004	0	0	0	0	0	0.0002	0	0.0007	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	182.79	12	chr15	85243973	.	A	G	182.79	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.64;DP=88;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=21.95;MQRankSum=-1.683;QD=12.19;ReadPosRankSum=0.749;SOR=1.112	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	0	1	1
chr15	85244958	85244960	AGG	-	exonic	GOLGA6L3	.	nonframeshift deletion	GOLGA6L3:NM_001310153:exon6:c.968_970del:p.E325del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.392e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	45.39	47	chr15	85244957	.	CAGG	C	45.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.286;DP=349;ExcessHet=0;FS=2.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.75;MQRankSum=0.06;QD=0.97;ReadPosRankSum=0.477;SOR=0.223	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,749	9	0	1	0
chr15	85247063	85247063	G	A	exonic	GOLGA6L3	.	nonsynonymous SNV	GOLGA6L3:NM_001310153:exon11:c.G1486A:p.G496S	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951306850	3.525e-05	0.0002	4.338e-05	2.7e-05	0.0004	2.712e-05	2.448e-05	0.0003	0.0002	3.221e-05	9.868e-05	0	0.0004	0.0004	0	9.131e-06	3.384e-05	1.203e-05	0.0002	0.0008	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.388e-05	0.0002	0	0.0002	0	0.0006	0.0004	0	8.957e-05	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	54.43	35	chr15	85247063	.	G	A	54.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=375;ExcessHet=0;FS=20.623;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=33.8;MQRankSum=-4.254;QD=1.43;ReadPosRankSum=-1.131;SOR=4.167	GT:AD:DP:GQ:PL	0/0:37,0:37:93:0,93,1395	9	0	1	0
chr15	85579012	85579012	G	A	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.G944A:p.G315D,AKAP13:NM_007200:exon7:c.G944A:p.G315D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.00443624138405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.18757	T	0.123	0.92824	T	0.003	0.12996	B	0.003	0.12992	B	.	.	.	.	1	0.08975	N	1.845	0.48678	L	3.54	0.10291	T	-1.28	0.46503	N	0.161	0.16864	-0.9624	0.38723	T	0.017	0.06855	T	9	0.069895625	0.10092	T	0.004436	0.10844	T	0.218	0.51265	0.131	0.03577	0.633368641781	0.63036	0.11880909030391654	0.11807	0.0455527235742	0.04945	0.316777944565	0.12932	T	0.012666	0.39912	T	-0.165849	0.25863	T	-0.476007	0.24872	T	0.0766965579894642	0.09559	T	0.758124	0.38180	T	0.043789316	0.06888	0.07496407	0.16454	0.043789316	0.06888	0.07496407	0.16454	-4.036	0.24341	T	.	.	0.109	0.37445	B	.;.;.;.;.	.;.;.;.;.	2.256017	0.28821	17.92	0.99249807007989566	0.56825	0.06327	0.12324	N	AEFDBHCI	0.043507	0.06886	N	-1.02981249592054	0.07989	0.3730604	-1.01544897950037	0.09446	0.4699577	0.999965328463867	0.48965	0.730579	0.87903	0	0.724815	0.89359	0	0.658983	0.55881	0	0.648885	0.59868	0	.	.	5.31	1.84	0.24348	0.529000	0.22727	1.895000	0.29544	-0.830000	0.02882	0.001000	0.13787	0.035000	0.21413	0.120000	0.19168	0.2503:0.0:0.5421:0.2076	3.063	0.05832	714	0.56256	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2349.43	34	chr15	85579012	.	G	A	2349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.272;DP=525;ExcessHet=0;FS=6.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.49;SOR=0.868	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1243	9	0	1	0
chr15	85579995	85579995	C	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.C1927G:p.Q643E,AKAP13:NM_007200:exon7:c.C1927G:p.Q643E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00346029991749	7.7e-05	.	3.311e-05	0	0	0	0	4.52e-05	0	6.069e-05	2.59e-05	4	154602	rs199949454	1.3e-05	1.3e-05	1.089e-05	1.513e-05	0.0001	8.31e-06	6.7e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	6.295e-06	1.656e-05	0.0001	1.971e-05	1.97e-05	3.853e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.235	0.21066	T	1.0	0.01155	T	0.001	0.09854	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	0.9	0.23182	L	3.74	0.09542	T	-0.49	0.16598	N	0.034	0.01274	-0.9614	0.38916	T	0.019	0.08079	T	9	0.06269911	0.08057	T	0.00346	0.07817	T	0.095	0.27398	.	.	0.206203607746	0.20212	0.1084883885253902	0.10777	0.0395402123316	0.04217	0.239448279142	0.02741	T	0.013468	0.27056	T	-0.392522	0.02591	T	-0.671156	0.07535	T	0.0162123341397588	0.00395	T	0.651035	0.26183	T	0.1564056	0.35298	0.07528568	0.16560	0.1564056	0.35297	0.07528568	0.16560	-2.363	0.04911	T	.	.	0.073	0.04681	B	.;.;.	.;.;.	1.177753	0.15679	12.03	0.95467696876255448	0.27011	0.04112	0.09584	N	AEFDGBHCI	0.040012	0.05893	N	-0.851515975538713	0.12012	0.5830067	-0.835788217709547	0.13629	0.7080869	0.999999987988005	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.91	0.464	0.15918	-0.054000	0.11783	0.069000	0.14235	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.983000	0.59808	0.1585:0.3781:0.4634:0.0	9.010	0.35297	714	0.56256	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2008.43	110	chr15	85579995	.	C	G	2008.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.799;DP=1059;ExcessHet=0;FS=2.837;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=-1.963;SOR=0.966	GT:AD:DP:GQ:PL	0/0:86,0:86:99:0,120,1800	9	0	1	0
chr15	86257020	86257020	T	G	splicing	AGBL1	NM_152336:exon8:c.901+2T>G	.	.	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	437	1084	1	0	0	1	0.000461042	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00199681	0.0013	0	0	0.0059	0.0096	0.0004	0.0071	0.0004	0.0010737	166	154602	rs138185152	0.0006	0.0006	0.0006	0.0007	0.0071	0.0006	0.0006	0.0064	0.0061	8.971e-05	0	0	0.0071	0.0085	0	0.0001	0.0006	0.0005	0.0011	0.0011	0.0008	0.0015	0.0077	0.0010	0.0009	0.0058	0.0052	4.813e-05	0	0	0	0.0077	0.0090	0	0.0004	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.16218	0.26425	T	-0.00312526	0.70134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.936039	0.94115	33	0.98032861973538854	0.37728	0.94080	0.60052	D	AECI	.	.	.	0.933345363499559	0.93295	11.94559	0.747655391959208	0.85983	8.745716	0.934309942705221	0.27165	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.945055	0.60864	5.85	5.85	0.93663	4.558000	0.60498	7.793000	0.68941	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.0:0.0:0.0:1.0	13.96	0.63684	509	0.75304	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1426.43	35	chr15	86257020	.	T	G	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.553;DP=451;ExcessHet=0;FS=1.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.314;SOR=0.474	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	9	0	1	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	568.24	102	chr15	88530840	.	T	C	568.24	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.277;DP=924;ExcessHet=2.8389;FS=147.511;InbreedingCoeff=-0.3348;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=0.194;SOR=10.283	GT:AD:DP:GQ:PL	0/0:92,19:111:37:0,37,1996	5	0	5	0
chr15	88856736	88856792	CTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA	-	exonic	ACAN	.	nonframeshift deletion	ACAN:NM_001135:exon12:c.4151_4207del:p.D1390_E1408del,ACAN:NM_001369268:exon12:c.4151_4207del:p.D1390_E1408del,ACAN:NM_013227:exon12:c.4151_4207del:p.D1390_E1408del	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	418	1063	5	3	33	44	0.0051474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0106	0.0071	0.0105	0.0106	0.0137	0.0104	0.0103	0.0116	0.0113	0.0126	0.0066	0.0139	0.0044	0.0113	0.0137	0.0107	0.0128	0.0124	0.0187	0.0094	0.0196	0.0177	0.0232	0.0176	0.0172	0.0216	0.0210	0.0152	0.0414	0.0109	0.0233	0.0034	0.0188	0	0.0232	0.0183	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	697.01	34	chr15	88856735	.	GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA	G	697.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.027;DP=447;ExcessHet=0;FS=3.143;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=50.07;MQRankSum=-0.974;QD=4.41;ReadPosRankSum=-1.287;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1153:.	8	0	1	1
chr15	88856755	88856755	C	0	exonic	ACAN	.	.	.	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	2136.22	97	chr15	88856755	.	C	*	2136.22	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.059;DP=500;ExcessHet=0;FS=9.224;InbreedingCoeff=0.8693;MLEAC=1;MLEAF=0.056;MQ=48.66;MQRankSum=-1.081;QD=16.56;ReadPosRankSum=-0.945;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1153:.	8	0	1	1
chr15	88856755	88856755	C	G	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.C4170G:p.D1390E,ACAN:NM_001369268:exon12:c.C4170G:p.D1390E,ACAN:NM_013227:exon12:c.C4170G:p.D1390E	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	107	1372	25	2	16	45	0.010458	.	.	.	1683568	not_provided|Spondyloepimetaphyseal_dysplasia,_aggrecan_type|Spondyloepiphyseal_dysplasia,_Kimberley_type|Short_stature_and_advanced_bone_age,_with_or_without_early-onset_osteoarthritis_and/or_osteochondritis_dissecans	MedGen:C3661900|MONDO:MONDO:0013014,MedGen:C2748544,OMIM:612813,Orphanet:171866|MONDO:MONDO:0012019,MedGen:C1842149,OMIM:608361,Orphanet:93283|MONDO:MONDO:0100462,MedGen:C3665488,OMIM:165800,Orphanet:251262	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	.	0.0443291	0	0	0	0	0	0	0	0	0.0094129	245	26028	rs201822759	0.0069	0.0061	0.0067	0.0071	0.0094	0.0068	0.0067	0.0074	0.0073	0.0031	0.0076	0.0062	0.0032	0.0045	0.0094	0.0076	0.0094	0.0033	0.0097	0.0095	0.0110	0.0084	0.0168	0.0091	0.0088	0.0156	0.0151	0.0048	0	0.0073	0.0039	0.0019	0.0014	0.0254	0.0168	0.0076	0.0005	0.137	0.26852	T	0.662	0.08161	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.24	0.30952	L	-3.98	0.96277	D	-0.48	0.21003	N	0.048	0.01999	0.043	0.83110	D	0.738	0.91058	D	9	0.0042357147	0.00085	T	.	.	.	0.258	0.56959	0.349	0.34598	0.117191471859	0.11215	0.02303425850539713	0.02255	0.236098789553	0.26144	0.573864936829	0.49224	T	0.153756	0.49474	T	-0.421962	0.01662	T	-0.377391	0.36028	T	0.00696940099352424	0.00079	T	0.367163	0.11156	T	0.05131588	0.09407	0.031162793	0.01666	0.038783524	0.05234	0.035093628	0.02695	-6.186	0.47809	T	0.12615419190264415	0.12685	0.596	0.69078	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.434138	0.02088	0.195	0.28414234301936492	0.01458	0.01166	0.04198	N	AEFBI	0.057259	0.10651	N	-1.18282007972721	0.05260	0.2393459	-1.38965550116176	0.03361	0.1566345	0.191794391933606	0.18009	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	3.52	-5.17	0.02632	-3.240000	0.00602	-20.000000	0.00162	-0.418000	0.05239	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1206:0.2762:0.3565:0.2467	2.086	0.03424	968	0.07033	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.076163	0.201220	0.067449	0.075221	0.100000	0.018182	0.065068	0.039370	0.05556	2136.22	97	chr15	88856755	.	C	G	2136.22	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.059;DP=500;ExcessHet=0;FS=9.224;InbreedingCoeff=0.8693;MLEAC=1;MLEAF=0.056;MQ=48.66;MQRankSum=-1.081;QD=16.56;ReadPosRankSum=-0.945;SOR=0.07	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1153:.	8	0	1	1
chr15	88881639	88881639	G	T	exonic	HAPLN3	.	nonsynonymous SNV	HAPLN3:NM_178232:exon3:c.C211A:p.R71S,HAPLN3:NM_001307952:exon4:c.C397A:p.R133S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0402455603652	0.0007	0.000399361	0.0007	0.0005	0.0010	0	0	0.0011	0.0011	0	0.0006209	96	154602	rs141308595	0.0011	0.0011	0.0011	0.0012	0.0019	0.0011	0.0011	0.0013	0.0013	0.0004	0.0011	0	0	3.762e-05	0.0019	0.0013	0.0011	1.159e-05	0.0008	0.0008	0.0010	0.0007	0.0012	0.0007	0.0007	0.0010	0.0009	0.0006	0	0.0010	0	0	0	0.0034	0.0012	0.0019	0	0.09	0.31987	T	0.304	0.31326	T	0.636	0.40327	P	0.564	0.49695	P	0.328281	0.14157	N	0.699070	0.991269	0.24058	N	1.78	0.46185	L	-0.04	0.63240	T	-2.05	0.63207	N	0.404	0.44474	-0.8258	0.53569	T	0.267	0.63823	T	10	0.07643601	0.11940	T	0.040246	0.59269	D	0.211	0.50185	.	.	0.716755069619	0.71426	0.596669343113118	0.59596	0.529839768189	0.50541	0.272519409657	0.06471	T	0.031358	0.22006	T	-0.356398	0.04338	T	-0.325251	0.41995	T	0.0798911059060752	0.09973	T	0.835916	0.68343	T	0.1474894	0.33714	0.12688965	0.30554	0.1474894	0.33714	0.12688965	0.30553	-7.623	0.58471	D	.	.	0.171	0.53732	B	.;.;.	.;.;.	2.519384	0.32554	19.08	0.99643037904481713	0.76819	0.85317	0.44438	D	AEFGBCI	0.563104	0.57043	D	0.162396918902155	0.49400	3.140874	0.166688644394583	0.48034	3.024817	0.999518947924188	0.40117	0.706548	0.73137	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	4.800000	0.62218	1.698000	0.28113	0.676000	0.76740	1.000000	0.71638	0.962000	0.29361	0.304000	0.24594	0.0:0.0:0.8128:0.1872	10.937	0.46465	964	0.07719	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1297.43	35	chr15	88881639	.	G	T	1297.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=438;ExcessHet=0;FS=2.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.66;SOR=0.96	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1223	9	0	1	0
chr15	89188219	89188219	A	G	exonic	ABHD2	.	nonsynonymous SNV	ABHD2:NM_152924:exon8:c.A842G:p.K281R,ABHD2:NM_007011:exon12:c.A842G:p.K281R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00749745515396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	5.445e-06	4.125e-06	0.0010	1.99e-06	1.28e-06	0.0005	0.0003	0	0	0	0	0	0.0010	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.197	0.27855	T	0.001	0.07471	B	0.003	0.08700	B	0.000029	0.55875	D	0.159332	0.999	0.46608	D	0.77	0.19370	N	-0.06	0.63568	T	-1.45	0.35597	N	0.193	0.21188	-0.9713	0.36925	T	0.166	0.50437	T	10	0.15439066	0.29123	T	0.007497	0.19899	T	0.070	0.20419	0.268	0.21576	0.600844471782	0.59765	0.31729118904702597	0.31642	0.512335266044	0.49279	0.372040271759	0.21124	T	0.10698	0.41878	T	-0.151057	0.28145	T	-0.454759	0.27173	T	0.43778975931207	0.30347	T	0.756624	0.37993	T	0.075515516	0.17017	0.09958821	0.23782	0.075515516	0.17017	0.09958821	0.23781	-4.168	0.26286	T	.	.	0.066	0.02488	B	.;.	.;.	2.678281	0.34935	19.76	0.99800698364834495	0.88550	0.78705	0.38871	D	AEFDBI	0.414051	0.48348	N	-0.27698576334732	0.30038	1.671304	-0.128789134075917	0.34234	1.967004	0.999363195767717	0.39301	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.59	3.29	0.36801	2.334000	0.43579	4.447000	0.43408	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8599:0.0:0.1401:0.0	9.666	0.39148	917	0.20147	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1684.43	129	chr15	89188219	.	A	G	1684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.493;DP=466;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.852;SOR=0.584	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1008	9	0	1	0
chr15	89649753	89649753	G	A	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon3:c.C517T:p.R173C	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	874303	Inborn_genetic_diseases|Acrocallosal_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.362	0.129107866984	.	0.000199681	.	.	.	.	.	.	.	.	3.23e-05	5	154602	rs559797970	4.787e-05	4.652e-05	6.204e-05	3.332e-05	0.0003	3.824e-05	3.496e-05	0.0002	0.0001	3.165e-05	0.0003	0	0	0	0	4.541e-05	8.614e-05	1.262e-05	5.252e-05	5.249e-05	8.993e-05	1.343e-05	0.0002	2.555e-05	1.829e-05	5.279e-05	2.833e-05	0	0	0.0002	0	0	0	0	7.349e-05	0	0	0.001	0.78490	D	0.003	0.76473	D	0.959	0.55135	D	0.541	0.48869	P	.	.	.	.	0.998428	0.44899	D	0.7	0.18542	N	-0.95	0.75438	T	-5.37	0.84882	D	0.305	0.34444	-0.4030	0.71932	T	0.317	0.68664	T	9	0.23526523	0.40583	T	0.129108	0.81112	D	0.362	0.68230	0.389	0.41115	0.690216922574	0.68755	0.3579632645537181	0.35710	0.108650998796	0.12253	0.45886811614	0.33154	T	0.637011	0.88821	D	-0.233604	0.16174	T	-0.243331	0.50472	T	0.443037986755371	0.30541	T	0.968903	0.88767	D	0.30191267	0.53075	0.38878915	0.63714	0.30191267	0.53075	0.38878915	0.63714	-10.177	0.74964	D	0.12962200931456164	0.13557	0.119	0.24532	B	.	.	5.760676	0.93429	33	0.99874718941040785	0.95160	0.94477	0.61292	D	AEFDBI	0.798046	0.72471	D	0.216529630042066	0.51999	3.377092	0.140528967425249	0.46643	2.906944	0.99999887497623	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.0	4.0	0.45673	5.708000	0.68030	8.184000	0.76782	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:0.5436:0.4563	10.282	0.42726	843	0.36859	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2005.43	37	chr15	89649753	.	G	A	2005.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=-0.902;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1145	9	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	14490.1	52	chr15	89776903	.	AGGGCAGGGGCAG	*	14490.1	.	AC=4;AF=0.2;AN=20;DP=496;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=4;MLEAF=0.2;MQ=60;QD=33.86;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,14:38:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1574,923,876:89776889	6	0	4	0
chr15	89803917	89803917	G	C	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon6:c.C1265G:p.A422G,ANPEP:NM_001150:exon7:c.C1265G:p.A422G,ANPEP:NM_001381923:exon7:c.C1265G:p.A422G	.	427	1083	12	0	0	12	0.00550964	.	.	.	726340	ANPEP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.206	0.0259706140442	0.0015	0.00179712	0.0020	0.0005	0.0019	0	0.0021	0.0022	0.0022	0.0033	0.0019146	296	154602	rs144282919	0.0020	0.0020	0.0019	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0021	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0041	0.0016	0.0015	0.0027	0.0023	0.0007	0	0.0020	0	0	0.0019	0.0068	0.0024	0.0028	0.0041	0.016	0.51853	D	0.003	0.76473	D	0.996	0.68779	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.998813	0.45492	D	2.31	0.66127	M	4.15	0.02815	T	-3.41	0.67129	D	0.708	0.71143	-1.1912	0.00229	T	0.034	0.14596	T	10	0.027962267	0.00934	T	0.025971	0.48910	D	0.206	0.49396	.	.	0.5353919603	0.53189	0.5511601366670511	0.55042	0.826528018319	0.67431	0.403196841478	0.25514	T	0.298852	0.67140	T	-0.409085	0.02016	T	-0.362504	0.37763	T	0.0143330079449275	0.00286	T	0.865813	0.56549	D	0.8962787	0.91052	0.71628726	0.83254	0.8962787	0.91054	0.71628726	0.83255	-10.542	0.77088	D	.	.	0.223	0.45384	B	.	.	4.560386	0.71854	25.7	0.99685103855634227	0.79507	0.96040	0.67261	D	AEFDBCI	0.799146	0.72549	D	0.50535029227732	0.67405	5.077351	0.415320321123462	0.62519	4.468608	0.99999990718495	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	3.65	0.40985	4.272000	0.58705	5.077000	0.47232	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0982:0.0:0.9018:0.0	10.405	0.43434	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	1674.43	36	chr15	89803917	.	G	C	1674.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=471;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.323;SOR=0.601	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1322	9	0	1	0
chr15	89805203	89805203	G	T	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon3:c.C772A:p.L258I,ANPEP:NM_001150:exon4:c.C772A:p.L258I,ANPEP:NM_001381923:exon4:c.C772A:p.L258I	.	414	1096	12	0	0	12	0.00544465	.	.	.	726341	ANPEP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00366820839329	0.0015	0.00159744	0.0019	0.0005	0.0017	0	0.0021	0.0021	0.0022	0.0031	0.0018305	283	154602	rs146926671	0.0019	0.0019	0.0018	0.0021	0.0034	0.0019	0.0019	0.0031	0.0030	0.0003	0.0017	0.0003	2.519e-05	0.0026	0.0031	0.0020	0.0017	0.0034	0.0018	0.0018	0.0017	0.0018	0.0048	0.0016	0.0015	0.0033	0.0028	0.0007	0	0.0016	0	0	0.0019	0.0068	0.0024	0.0028	0.0048	0.436	0.09374	T	0.497	0.11299	T	0.005	0.12996	B	0.016	0.17743	B	0.000000	0.00162	N	15.991200	1	0.08975	N	0.475	0.13142	N	4.24	0.02590	T	-0.02	0.07299	N	0.214	0.23884	-0.9357	0.43288	T	0.006	0.01944	T	10	0.0043984354	0.00089	T	0.003668	0.08464	T	0.021	0.04004	.	.	0.252681307341	0.24864	0.42566844532429726	0.42483	0.274924138337	0.29976	0.269383579493	0.06060	T	0.127907	0.45523	T	-0.66847	0.00056	T	-0.735093	0.04100	T	0.00379468395581677	0.00040	T	0.669833	0.27843	T	0.16779764	0.37198	0.03854443	0.03748	0.16779764	0.37198	0.03854443	0.03747	-3.983	0.23548	T	.	.	0.09	0.12607	B	.	.	-2.217674	0.00061	0.001	0.80936852884495825	0.13440	0.13072	0.17647	N	AEFGBCI	0.211760	0.33752	N	-1.34560822965062	0.03171	0.1411956	-1.40565723452777	0.03195	0.1485408	0.999439436612652	0.39683	0.67177	0.52595	0	0.573888	0.26702	0	0.645312	0.48771	0	0.711	0.71501	0	.	.	4.42	-3.78	0.04049	-3.933000	0.00373	-13.273000	0.00469	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.41:0.1158:0.3576:0.1166	2.453	0.04248	448	0.79501	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	1740.43	36	chr15	89805203	.	G	T	1740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.546;DP=460;ExcessHet=0;FS=2.186;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.449;SOR=0.524	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr15	90067285	90067285	G	C	exonic	ZNF710	.	nonsynonymous SNV	ZNF710:NM_198526:exon2:c.G148C:p.E50Q	.	431	1064	26	1	0	28	0.012987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	.	0.0004	0.000998403	0.0024	0.0001	0.0012	0	0	0.0005	0.0043	0.0130	0.0016494	255	154602	rs144139243	0.0011	0.0011	0.0007	0.0015	0.0128	0.0011	0.0010	0.0121	0.0119	2.99e-05	0.0008	0.0006	0	0	0.0040	0.0003	0.0012	0.0128	0.0006	0.0006	0.0003	0.0009	0.0120	0.0005	0.0005	0.0095	0.0087	2.406e-05	0	0.0003	0.0003	0	0	0	0.0004	0.0009	0.0120	0.0	0.91255	D	0.054	0.47097	T	0.0	0.02946	B	0.001	0.04355	B	0.000669	0.00662	N	3.731900	0.988049	0.24453	N	1.59	0.40313	L	2.78	0.11298	T	-0.32	0.43524	N	0.405	0.44570	-0.9569	0.39753	T	0.029	0.12673	T	10	0.006815791	0.00155	T	.	.	.	0.249	0.55752	.	.	0.68240868135	0.67970	0.35619339743345924	0.35533	0.933340578785	0.71929	0.622464299202	0.56077	T	0.030723	0.21710	T	-0.417021	0.01787	T	-0.361411	0.37888	T	0.0892662350549347	0.11129	T	0.70043	0.31914	T	0.25876254	0.48926	0.17242488	0.39496	0.25876254	0.48926	0.17242488	0.39495	-4.688	0.33258	T	.	.	0.115	0.23148	B	.;.	.;.	2.848090	0.37596	20.5	0.9953706555589058	0.70274	0.89575	0.50127	D	AEFDBI	0.220690	0.34541	N	-0.309152868792112	0.28799	1.591547	-0.171832462104759	0.32577	1.854842	0.999994401731904	0.74766	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.96	4.03	0.46115	3.807000	0.55295	9.365000	0.80404	0.676000	0.76740	0.840000	0.30285	1.000000	0.68203	0.158000	0.20581	0.0:0.1518:0.8482:0.0	14.1	0.64576	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007078	0.005102	0.002732	0.002924	0.000000	0.008621	0.021605	0.011364	0.05	909.43	35	chr15	90067285	.	G	C	909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.051;DP=419;ExcessHet=0;FS=2.624;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.66;ReadPosRankSum=0.624;SOR=0.625	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	9	0	1	0
chr15	90271646	90271646	G	A	exonic	NGRN	.	nonsynonymous SNV	NGRN:NM_001033088:exon3:c.G734A:p.R245K	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0005	0.000199681	0.0012	0.0002	8.676e-05	0	0.0121	0.0008	0.0011	0.0005	0.0009832	152	154602	rs139766965	0.0010	0.0010	0.0010	0.0010	0.0026	0.0009	0.0009	0.0016	0.0013	5.974e-05	0.0003	3.826e-05	0	0.0126	0.0026	0.0005	0.0012	0.0012	0.0013	0.0013	0.0008	0.0018	0.0019	0.0011	0.0011	0.0010	0.0007	7.214e-05	0	0	0	0	0.0121	0	0.0008	0.0005	0.0019	0.772	0.03363	T	0.545	0.09588	T	0.454	0.36182	P	0.192	0.36449	B	0.009642	0.30263	U	0.265230	1	0.08975	N	2.125	0.59049	M	1.57	0.29342	T	-0.95	0.25332	N	0.076	0.05037	-1.0371	0.18202	T	0.059	0.24649	T	10	0.0046002567	0.00096	T	.	.	.	0.080	0.23350	.	.	0.428516003163	0.42472	0.13953594312981407	0.13876	0.217715732421	0.24293	0.327599346638	0.14571	T	0.017056	0.13979	T	-0.583122	0.00184	T	-0.614382	0.11632	T	0.0234328498841415	0.01075	T	0.351165	0.07832	T	0.11530309	0.27210	0.039764896	0.04144	0.11530309	0.27210	0.039764896	0.04144	-3.601	0.17871	T	.	.	0.093	0.14015	B	.	.	0.863785	0.12365	8.901	0.9084826343089013	0.20097	0.24148	0.22303	N	AEFDBCI	0.280174	0.39406	N	-0.70900145502624	0.15767	0.7975608	-0.824936000221565	0.13891	0.7230683	0.999990889517722	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	3.97	1.75	0.23707	1.762000	0.38080	0.963000	0.23005	-0.155000	0.11859	0.024000	0.20007	0.000000	0.08366	0.001000	0.02609	0.1112:0.1697:0.719:0.0	7.078	0.24392	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1187.43	42	chr15	90271646	.	G	A	1187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.548;DP=414;ExcessHet=0;FS=1.8;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=-0.52;SOR=0.512	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1132	9	0	1	0
chr15	90360750	90360750	A	G	exonic	ZNF774	.	nonsynonymous SNV	ZNF774:NM_001004309:exon4:c.A919G:p.I307V	.	418	1091	13	0	0	13	0.00592255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00367150201203	0.0035	0.00179712	0.0041	0.0013	0.0017	0	0.0035	0.0052	0.0078	0.0052	0.0038421	594	154602	rs150500921	0.0047	0.0047	0.0045	0.0048	0.0059	0.0046	0.0045	0.0048	0.0047	0.0008	0.0017	0.0107	5.038e-05	0.0043	0.0059	0.0049	0.0050	0.0051	0.0032	0.0032	0.0035	0.0028	0.0049	0.0029	0.0029	0.0045	0.0043	0.0013	0	0.0016	0.0078	0	0.0026	0	0.0049	0.0033	0.0017	0.171	0.22746	T	0.385	0.15746	T	0.0	0.02946	B	0.002	0.06944	B	0.680832	0.10260	N	0.778107	1	0.08975	N	-1.03	0.01126	N	2.02	0.21119	T	-0.29	0.11728	N	0.014	0.00160	-0.9614	0.38916	T	0.016	0.06711	T	10	0.0029374063	0.00047	T	0.003672	0.08464	T	0.027	0.05988	.	.	0.186928172975	0.18263	0.020037791574456967	0.01956	0.0372404759166	0.03946	0.315446823835	0.12731	T	0.002856	0.02248	T	-0.682725	0.00046	T	-0.750435	0.03468	T	0.00263947290263791	0.00028	T	0.362364	0.08382	T	0.03160436	0.03031	0.034833886	0.02622	0.03160436	0.03031	0.034833886	0.02621	-4.155	0.26097	T	.	.	0.174	0.38117	B	.	.	1.261285	0.16590	12.64	0.77924712142657915	0.12081	0.18813	0.20413	N	AEFDBCI	0.099355	0.20002	N	-1.13139518893426	0.06091	0.2794934	-1.1449639417494	0.06859	0.3315951	0.197770893749221	0.18083	0.651	0.46895	0	0.601575	0.49859	0	0.608075	0.38828	0	0.683762	0.67416	0	.	.	5.64	-5.16	0.02640	1.008000	0.29475	-0.611000	0.08222	0.731000	0.85647	0.000000	0.06391	0.000000	0.08366	0.917000	0.45243	0.1853:0.395:0.4197:0.0	7.812	0.28399	889	0.27310	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.008152	0.002924	0.000000	0.008621	0.015244	0.000000	0.05	1714.43	40	chr15	90360750	.	A	G	1714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=489;ExcessHet=0;FS=3.132;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.62;SOR=0.658	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	9	0	1	0
chr15	90487517	90487517	G	A	exonic	IQGAP1	.	nonsynonymous SNV	IQGAP1:NM_003870:exon33:c.G4183A:p.V1395I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0169547904486	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389075576	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.994e-07	1.656e-05	0	6.57e-06	6.566e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.246	0.17353	T	0.393	0.15355	T	0.546	0.38028	P	0.2	0.36839	B	0.000012	0.62929	D	0.066094	0.999999	0.81001	D	1.49	0.37298	L	0.75	0.50192	T	-0.75	0.21003	N	0.65	0.66101	-1.0523	0.13763	T	0.069	0.28313	T	10	0.3829862	0.54333	T	0.016955	0.38457	T	0.152	0.39956	0.33	0.31519	0.567736105639	0.56438	0.3874670173396328	0.38661	0.246005621291	0.27129	0.738675355911	0.72777	T	0.218589	0.58136	T	-0.0192711	0.48956	T	-0.265458	0.48278	T	0.56400223791513	0.35007	D	0.816118	0.56300	T	0.08615521	0.20015	0.0968629	0.23033	0.08615521	0.20015	0.0968629	0.23033	-5.46	0.41492	T	.	.	0.115	0.23255	B	.;.	.;.	4.514655	0.70726	25.6	0.99565781805389764	0.72075	0.99260	0.93590	D	AEFDBI	0.933021	0.92427	D	-0.0144107508010017	0.41204	2.460398	0.196033467042102	0.49628	3.163808	0.999994460957282	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	4.77	0.60425	8.071000	0.89291	7.544000	0.60141	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0763:0.0:0.9236:0.0	13.177	0.59055	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1417.43	40	chr15	90487517	.	G	A	1417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.043;DP=432;ExcessHet=0;FS=0.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.039;SOR=0.821	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	9	0	1	0
chr15	90876343	90876343	G	C	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.G266C:p.R89T,FURIN:NM_001289824:exon3:c.G266C:p.R89T,FURIN:NM_001382619:exon3:c.G266C:p.R89T,FURIN:NM_001382620:exon3:c.G266C:p.R89T,FURIN:NM_001382621:exon3:c.G266C:p.R89T,FURIN:NM_001382622:exon3:c.G266C:p.R89T,FURIN:NM_002569:exon3:c.G266C:p.R89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00533374619933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.431e-06	3.42e-06	1.366e-06	5.515e-06	4.512e-06	1.01e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.512e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471	0.08458	T	0.484	0.16522	T	0.001	0.07471	B	0.004	0.10090	B	0.000033	0.55875	D	0.155049	0.980269	0.39648	D	1.46	0.36832	L	1.54	0.30133	T	-1.07	0.33598	N	0.564	0.58798	-1.0830	0.06776	T	0.051	0.21844	T	10	0.12989408	0.24718	T	0.005334	0.13648	T	0.141	0.37795	0.36	0.36385	0.491313100916	0.48765	0.6240039514055448	0.62333	1.27026454473	0.82252	0.531188488007	0.43202	T	0.18899	0.54306	T	-0.116059	0.33770	T	-0.404487	0.32862	T	0.510904669761658	0.33031	D	0.845015	0.54691	T	0.3193391	0.54584	0.22740099	0.47749	0.3193391	0.54584	0.22740099	0.47748	-5.282	0.39764	T	.	.	0.144	0.34667	B	.;.;.;.	.;.;.;.	3.232893	0.44098	21.9	0.9034535654992869	0.19609	0.94488	0.61327	D	AEFDGBCI	0.666126	0.63470	D	-0.237113439073649	0.31620	1.774918	-0.0334396943324517	0.38214	2.248302	0.999999017019089	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	2.589000	0.45810	5.786000	0.49836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.329	0.82836	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	521.43	34	chr15	90876343	.	G	C	521.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.92;DP=374;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.14;SOR=0.694	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr15	90909460	90909460	C	T	exonic	MAN2A2	.	nonsynonymous SNV	MAN2A2:NM_006122:exon9:c.C1330T:p.R444W,MAN2A2:NM_001320977:exon10:c.C1330T:p.R444W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.074877631857	.	0.000199681	2.473e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs533695393	3.284e-05	3.352e-05	3.403e-05	3.163e-05	6.956e-05	2.543e-05	2.249e-05	2.995e-05	2.305e-05	0	2.236e-05	0	0	1.872e-05	0	3.507e-05	1.656e-05	6.956e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.002	0.72154	D	0.002	0.79402	D	0.998	0.73220	D	0.948	0.68536	D	0.000014	0.62929	D	0.113605	0.993785	0.81001	D	2.66	0.77858	M	1.91	0.23283	T	-5.1	0.83027	D	0.647	0.65844	-0.7573	0.57551	T	0.171	0.51181	T	10	0.3880512	0.54687	T	0.074878	0.72151	D	0.297	0.61730	0.596	0.72617	0.587872879989	0.58462	0.8861659850876773	0.88585	0.885982533807	0.69996	0.630673587322	0.57241	T	0.824705	0.95751	D	-0.204018	0.20227	T	-0.294166	0.45338	T	0.967939615249634	0.68074	D	0.970703	0.96434	D	0.7691214	0.81995	0.7917122	0.87751	0.7691214	0.81997	0.7917122	0.87752	-12.293	0.86248	D	.	.	0.186	0.55348	B	.;.;.	.;.;.	4.919604	0.81018	27.5	0.99895142767474399	0.96819	0.97568	0.75603	D	AEFDBI	0.406848	0.47917	N	0.621081797597444	0.74509	6.144911	0.57541408784043	0.73183	5.928797	0.999986251741613	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.74	4.81	0.61401	3.123000	0.50147	1.710000	0.28189	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.28:0.72:0.0:0.0	13.677	0.61936	639	0.64210	Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain;Glycoside hydrolase family 38, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1573.43	34	chr15	90909460	.	C	T	1573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=507;ExcessHet=0;FS=2.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.719;SOR=0.957	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr15	90948158	90948158	C	G	exonic	UNC45A	.	nonsynonymous SNV	UNC45A:NM_001323620:exon12:c.C1177G:p.Q393E,UNC45A:NM_001323621:exon12:c.C1567G:p.Q523E,UNC45A:NM_018671:exon12:c.C1612G:p.Q538E,UNC45A:NM_001323619:exon13:c.C1612G:p.Q538E,UNC45A:NM_001039675:exon15:c.C1567G:p.Q523E	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00318865664236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.03787	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.019221	0.27304	N	0.427611	0.965348	0.25942	N	0.46	0.12951	N	0.87	0.46412	T	-0.5	0.15782	N	0.199	0.21969	-1.0418	0.16770	T	0.060	0.25163	T	10	0.08967635	0.15556	T	0.003189	0.06996	T	0.054	0.15330	0.442	0.49811	0.450055297382	0.44628	0.07308727285677052	0.07245	0.140064507069	0.15782	0.53606235981	0.43890	T	0.024752	0.18645	T	-0.218976	0.18131	T	-0.55232	0.17103	T	0.0949286222457886	0.11790	T	0.414759	0.10842	T	0.061945498	0.12884	0.053058937	0.08865	0.061945498	0.12884	0.053058937	0.08864	-2.218	0.04128	T	.	.	0.066	0.03231	B	.;.;.	.;.;.	3.306175	0.45409	22.1	0.98137915798040121	0.38580	0.84203	0.43286	D	AEFGBI	0.265809	0.38285	N	-0.405365619664779	0.25280	1.371171	-0.220234890280571	0.30812	1.738078	0.98302857268941	0.30492	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.31	3.29	0.36801	0.310000	0.19112	2.801000	0.34852	0.599000	0.40250	0.944000	0.32806	0.999000	0.35428	0.956000	0.50813	0.125:0.445:0.43:0.0	9.294	0.36965	542	0.72843	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1262.43	39	chr15	90948158	.	C	G	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=461;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-0.445;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr15	94399031	94399031	T	C	exonic	MCTP2	.	nonsynonymous SNV	MCTP2:NM_001159644:exon7:c.T623C:p.I208T,MCTP2:NM_001385009:exon14:c.T1361C:p.I454T,MCTP2:NM_001385010:exon14:c.T1361C:p.I454T,MCTP2:NM_001385001:exon15:c.T1859C:p.I620T,MCTP2:NM_001385003:exon15:c.T1859C:p.I620T,MCTP2:NM_001385004:exon15:c.T1859C:p.I620T,MCTP2:NM_001385005:exon15:c.T1859C:p.I620T,MCTP2:NM_001385006:exon15:c.T1859C:p.I620T,MCTP2:NM_001385008:exon15:c.T1859C:p.I620T,MCTP2:NM_001159643:exon16:c.T1859C:p.I620T,MCTP2:NM_001385002:exon16:c.T1859C:p.I620T,MCTP2:NM_001385011:exon16:c.T1541C:p.I514T,MCTP2:NM_018349:exon16:c.T1859C:p.I620T,MCTP2:NM_001385007:exon17:c.T1577C:p.I526T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.119381004754	.	.	4.154e-05	0	0	0.0002	0	3.019e-05	0	6.095e-05	3.23e-05	5	154602	rs749725540	2.866e-06	2.738e-06	2.867e-06	2.865e-06	1.179e-05	6.7e-07	4.5e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.852e-06	0	1.179e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0.0002	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	0.974	0.64738	D	0.959	0.73820	D	0.000000	0.84330	D	0.049645	0.999943	0.51968	D	2.625	0.76847	M	-0.77	0.73523	T	-4.4	0.79998	D	0.896	0.90138	0.271	0.87087	D	0.582	0.84955	D	10	0.82298005	0.81492	D	0.119381	0.79967	D	0.783	0.92787	0.551	0.66716	0.682740069428	0.68003	0.854472651593131	0.85410	0.142587795851	0.16085	0.695002555847	0.66424	T	0.485232	0.81221	T	0.162488	0.70430	D	0.260055	0.86094	D	0.829365253448486	0.48481	D	0.947205	0.79675	D	0.6759331	0.76751	0.66041696	0.80104	0.6759331	0.76752	0.66041696	0.80105	-13.405	0.90962	D	.	.	0.943	0.86244	P	.;.;.	.;.;.	4.510000	0.70621	25.5	0.99862710619670869	0.94093	0.96771	0.70851	D	AEFI	0.645957	0.62166	D	0.721996853339069	0.81075	7.438	0.688969717858763	0.81542	7.550916	0.912529131039958	0.26397	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.37	5.37	0.76949	5.256000	0.65286	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.387	0.74428	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1033.43	34	chr15	94399031	.	T	C	1033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.362;DP=398;ExcessHet=0;FS=0.817;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.258;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1075	9	0	1	0
chr15	98441138	98441138	A	T	exonic	FAM169B	.	nonsynonymous SNV	FAM169B:NM_182562:exon6:c.T392A:p.V131E	.	428	1076	17	0	1	18	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0021	0.00279553	0.0043	0.0005	0.0016	0	0.0030	0.0042	0.0089	0.0117	0.0039262	607	154602	rs76060825	0.0035	0.0035	0.0032	0.0039	0.0116	0.0035	0.0034	0.0110	0.0108	0.0005	0.0013	0.0127	7.557e-05	0.0035	0.0047	0.0030	0.0042	0.0116	0.0028	0.0028	0.0025	0.0031	0.0104	0.0026	0.0025	0.0081	0.0073	0.0005	0	0.0033	0.0141	0.0002	0.0047	0.0034	0.0030	0.0014	0.0104	0.169	0.22920	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.008785	0.01219	N	3.298320	1	0.08975	N	1.7	0.43825	L	-0.67	0.72458	T	-1.45	0.35597	N	.	.	-0.9766	0.35772	T	0.130	0.43968	T	10	0.0036017895	0.00065	T	.	.	.	0.134	0.36365	.	.	0.132336055621	0.12781	0.2800522186610021	0.27918	.	.	0.282662689686	0.07867	T	0.021447	0.16701	T	-0.521743	0.00430	T	-0.511836	0.21125	T	0.00467752675285794	0.00050	T	0.309069	0.05976	T	0.08721062	0.20299	0.07078254	0.15081	0.08721062	0.20298	0.07078254	0.15081	-3.169	0.12106	T	.	.	0.108	0.20352	B	.	.	0.044563	0.04597	1.271	0.79658596324439401	0.12841	0.01423	0.04798	N	ALL	0.041056	0.06190	N	-1.12582985455403	0.06187	0.2841303	-1.2258747807242	0.05497	0.2620806	0.967755296109223	0.29000	0.487112	0.14033	0	0.607795	0.50457	0	0.573078	0.19857	0	0.564101	0.26826	0	.	.	4.87	-5.59	0.02305	-0.485000	0.06601	-0.776000	0.07475	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1663:0.2673:0.2694:0.297	0.692	0.00836	980	0.04108	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.007576	0.05	777.43	41	chr15	98441138	.	A	T	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=411;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.52;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	9	0	1	0
chr15	98451927	98451927	G	C	exonic	FAM169B	.	nonsynonymous SNV	FAM169B:NM_182562:exon5:c.C268G:p.R90G	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00432867843473	.	.	0.0003	0	0	0	0	3.016e-05	0	0.0020	0.0002264	35	154602	rs373789180	0.0002	0.0002	8.985e-05	0.0002	0.0024	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0005	8.994e-06	0.0003	0.0024	0.0001	0.0001	3.854e-05	0.0002	0.0031	6.507e-05	5.319e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0	0.0031	0.138	0.25873	T	.	.	.	0.001	0.07471	B	0.001	0.04355	B	0.434784	0.12703	N	0.750309	0.999976	0.18612	N	1.095	0.27400	L	0.76	0.49919	T	-3.32	0.66085	D	.	.	-1.0679	0.09880	T	0.082	0.32178	T	10	0.015218526	0.00319	T	0.004329	0.10529	T	0.051	0.14325	0.306	0.27646	0.314417295294	0.31040	0.2315748172177481	0.23072	.	.	0.204185694456	0.00588	T	0.065044	0.32589	T	-0.52549	0.00408	T	-0.53487	0.18803	T	0.0365262432097554	0.03072	T	0.50435	0.15896	T	0.14824797	0.33854	0.16304892	0.37843	0.14824797	0.33853	0.16304892	0.37843	-3.833	0.21298	T	.	.	0.083	0.09045	B	.	.	1.750621	0.22270	15.55	0.9836166445883493	0.40648	0.50089	0.28582	D	AEFDBI	0.181702	0.30902	N	-0.355127603357116	0.27085	1.483188	-0.225703013470798	0.30618	1.726	0.412999902739169	0.20228	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	3.74	0.42108	1.445000	0.34690	8.031000	0.76273	0.676000	0.76740	0.919000	0.31930	1.000000	0.68203	0.090000	0.17789	0.0:0.1603:0.6928:0.1468	9.5	0.38176	980	0.04108	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1285.43	43	chr15	98451927	.	G	C	1285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.483;DP=470;ExcessHet=0;FS=2.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.909;SOR=0.522	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,99,1485	9	0	1	0
chr15	98908747	98908747	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon6:c.G1310A:p.R437H,IGF1R:NM_001291858:exon6:c.G1310A:p.R437H	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	.	195269	not_provided|IGF1R-related_disorder|Growth_delay_due_to_insulin-like_growth_factor_I_resistance|not_specified	MedGen:C3661900|.|MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.192	0.0339117963439	0.0036	0.000599042	0.0032	0.0006	0.0012	0	0.0023	0.0047	0.0023	0.0024	0.0032729	506	154602	rs34516635	0.0036	0.0036	0.0036	0.0037	0.0040	0.0036	0.0035	0.0039	0.0039	0.0007	0.0011	0.0086	0	0.0025	0.0023	0.0040	0.0030	0.0026	0.0028	0.0028	0.0029	0.0026	0.0045	0.0026	0.0025	0.0041	0.0039	0.0006	0	0.0014	0.0069	0.0004	0.0027	0	0.0045	0.0024	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.0	0.09854	B	0.0	0.01387	B	0.000935	0.41028	D	0.101366	0.954851	0.37897	D	-0.845	0.01495	N	-1.34	0.79944	T	1.99	0.00501	N	0.104	0.09066	-0.9114	0.46682	T	0.123	0.42589	T	10	0.008615285	0.00195	T	0.033912	0.55311	D	0.192	0.47115	.	.	0.540632900629	0.53715	0.6243959439015428	0.62372	0.766984657978	0.64557	0.282900393009	0.07900	T	0.517004	0.83036	D	-0.388586	0.02748	T	-0.324414	0.42088	T	0.00407535949548423	0.00043	T	0.89481	0.63428	D	0.046101693	0.07661	0.04245196	0.05059	0.053907227	0.10270	0.039693978	0.04121	-5.199	0.38931	T	0.03122240378634345	0.00100	0.061	0.02960	B	.;.;.;.;.	.;.;.;.;.	2.245612	0.28682	17.88	0.27397584490369331	0.01358	0.68255	0.33733	D	AEFGBHCI	0.159582	0.28540	N	-0.690757670455928	0.16283	0.8282654	-0.44495030008755	0.23692	1.293383	0.999999859548895	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	2.48	0.29194	3.980000	0.56603	5.044000	0.46937	-0.127000	0.13314	1.000000	0.71638	1.000000	0.68203	0.765000	0.36330	0.4329:0.0:0.5671:0.0	7.251	0.25327	988	0.01987	Receptor L-domain;Receptor L-domain;Receptor L-domain;Receptor L-domain;Receptor L-domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1234.43	34	chr15	98908747	.	G	A	1234.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.871;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=1.92;SOR=0.687	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1415	9	0	1	0
chr15	98916084	98916084	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon9:c.G1949A:p.R650Q,IGF1R:NM_001291858:exon9:c.G1949A:p.R650Q	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	714697	not_specified|IGF1R-related_disorder|Growth_delay_due_to_insulin-like_growth_factor_I_resistance|not_provided	MedGen:CN169374|.|MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00612196327726	0.0022	0.00139776	0.0005	0.0058	8.64e-05	0	0	4.496e-05	0	0	0.0004916	76	154602	rs61731172	0.0003	0.0003	0.0003	0.0002	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	6.708e-05	0	0	0	0	0.0001	0.0005	3.478e-05	0.0018	0.0018	0.0020	0.0016	0.0061	0.0016	0.0016	0.0055	0.0052	0.0061	0	0.0005	0	0	0	0	0.0002	0.0014	0	0.524	0.07211	T	0.877	0.03250	T	0.007	0.14655	B	0.001	0.04355	B	0.026612	0.25890	N	0.270964	0.992728	0.41725	D	-1.065	0.01049	N	-0.54	0.70950	T	-0.3	0.11913	N	0.241	0.27197	-1.1030	0.03747	T	0.075	0.30242	T	10	0.006118804	0.00138	T	0.006122	0.16023	T	0.043	0.11576	.	.	0.547715812668	0.54426	0.2924782086462101	0.29160	0.710791701504	0.61698	0.279150366783	0.07374	T	0.37964	0.74235	T	-0.431961	0.01443	T	-0.391063	0.34428	T	0.0218060254590506	0.00887	T	0.909609	0.68017	D	0.040195804	0.05693	0.024956573	0.00525	0.05028145	0.09058	0.030219827	0.01451	-1.765	0.02407	T	0.06910492922485523	0.02563	0.053	0.00505	B	.;.;.;.	.;.;.;.	1.982679	0.25189	16.67	0.96178869159839964	0.28954	0.69186	0.34089	D	AEFDBCI	0.035221	0.04495	N	-0.789343218850948	0.13586	0.6704157	-0.581479143101704	0.19975	1.074201	0.999967130025025	0.48965	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.654926	0.60358	0	.	.	4.83	1.96	0.25203	1.861000	0.39078	2.430000	0.32726	-0.202000	0.08738	1.000000	0.71638	0.996000	0.32793	0.994000	0.71098	0.5135:0.0:0.4864:0.0	6.849	0.23185	987	0.02648	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1628.43	33	chr15	98916084	.	G	A	1628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=467;ExcessHet=0;FS=6.05;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.311;SOR=0.379	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	9	0	1	0
chr15	99105996	99105996	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon1:c.C797T:p.A266V,SYNM:NM_145728:exon1:c.C797T:p.A266V	.	433	1054	34	1	0	36	0.016791	.	.	.	2814521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.210	.	.	0.00179712	0.0107	0.0128	0	0	.	0.0205	0	0.0084	0.0011837	183	154602	rs140039713	0.0042	0.0040	0.0041	0.0044	0.0254	0.0042	0.0041	0.0214	0.0198	0.0010	0.0027	0.0088	0	3.045e-05	0.0254	0.0045	0.0058	0.0023	0.0034	0.0034	0.0036	0.0032	0.0053	0.0032	0.0031	0.0049	0.0047	0.0008	0.0033	0.0026	0.0086	0	9.414e-05	0.0582	0.0053	0.0076	0.0031	.	.	.	0.693	0.11227	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.3	0.87671	D	.	.	.	0.147	0.14905	-0.7512	0.57873	T	0.366	0.72674	T	8	0.0059403777	0.00133	T	.	.	.	0.210	0.50028	.	.	0.608695890411	0.60555	0.15703722032440537	0.15624	0.164404388501	0.18549	0.568288564682	0.48436	T	0.357462	0.72416	T	-0.403691	0.02189	T	-0.350316	0.39169	T	0.000385331368306652	0.00003	T	0.655434	0.26547	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.24226	B	.;.;.	.;.;.	0.560857	0.09292	6.076	0.86299269780693555	0.16443	0.01006	0.03801	N	ALL	0.029300	0.02741	N	-0.968004810163419	0.09292	0.4392135	-1.03983584467923	0.08919	0.4410133	0.999999987410824	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.46	-0.263	0.12314	0.034000	0.13663	0.487000	0.18863	0.518000	0.23583	0.000000	0.06391	0.070000	0.22201	0.062000	0.16114	0.0:0.2995:0.0:0.7004	7.176	0.24924	982	0.03397	.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.031592	0.033333	0.018272	0.066667	0.000000	0.074468	0.034091	0.004274	0.05	399.43	36	chr15	99105996	.	C	T	399.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-1.074;SOR=0.582	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1337	9	0	1	0
chr15	100484599	100484599	G	A	exonic	CERS3	.	nonsynonymous SNV	CERS3:NM_001378789:exon5:c.C358T:p.R120W,CERS3:NM_001290342:exon6:c.C358T:p.R120W,CERS3:NM_001290343:exon6:c.C358T:p.R120W,CERS3:NM_178842:exon6:c.C358T:p.R120W,CERS3:NM_001290341:exon7:c.C391T:p.R131W	Ichthyosis, congenital, autosomal recessive 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.854	0.399069372656	.	.	8.252e-06	0	8.661e-05	0	0	0	0	0	1.94e-05	3	154602	rs563311139	2.394e-05	2.531e-05	2.722e-05	2.063e-05	0.0005	1.739e-05	1.539e-05	0.0001	7.541e-05	5.974e-05	0.0002	0	2.519e-05	0	0.0005	1.709e-05	3.312e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.053581	1	0.81001	D	4.385	0.98597	H	-4.56	0.97772	D	-7.6	0.96495	D	0.636	0.65074	1.093	0.99378	D	0.964	0.98844	D	10	0.88943315	0.88281	D	0.399069	0.93357	D	0.854	0.95507	0.648	0.78542	0.724913443104	0.72248	0.900951311323346	0.90067	0.156298676317	0.17638	0.46867197752	0.34497	T	0.797286	0.98379	D	0.30813	0.83602	D	0.489545	0.94392	D	0.999014616012573	0.95890	D	0.981102	0.93484	D	0.7810853	0.82720	0.67464453	0.80898	0.7810853	0.82722	0.67464453	0.80899	-11.409	0.81853	D	0.8042003436476581	0.88037	0.427	0.63481	A	.;.;.;.	.;.;.;.	5.133109	0.85909	28.7	0.99929179830329429	0.99279	0.90837	0.52354	D	AEFBIJ	0.563277	0.57053	D	0.825079361680227	0.87647	9.291011	0.742426190282262	0.85588	8.626232	0.25740386821912	0.18750	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	2.593000	0.45845	6.602000	0.56060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.8351:0.1649	12.705	0.56425	969	0.06854	Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain|Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1184.43	38	chr15	100484599	.	G	A	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.791;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-1.569;SOR=0.773	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr15	101065985	101065985	C	T	exonic	LRRK1	.	nonsynonymous SNV	LRRK1:NM_024652:exon32:c.C5548T:p.R1850C	.	8	1502	12	0	0	12	0.00397878	.	.	.	725912	not_provided|LRRK1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.153	0.0230744527681	0.0059	0.00119808	0.0048	0.0022	0.0010	0	0.0067	0.0074	0.0045	0.0002	0.0049676	768	154602	rs41525944	0.0070	0.0070	0.0073	0.0067	0.0084	0.0069	0.0068	0.0082	0.0082	0.0010	0.0011	0	2.519e-05	0.0092	0.0021	0.0084	0.0049	0.0005	0.0049	0.0049	0.0053	0.0045	0.0079	0.0046	0.0045	0.0074	0.0072	0.0015	0.0373	0.0012	0	0	0.0082	0	0.0079	0.0009	0.0008	0.098	0.30800	T	0.05	0.48080	T	0.0	0.02946	B	0.0	0.01387	B	0.369142	0.04351	N	1.389520	1	0.08975	N	0.69	0.16971	N	-0.65	0.72237	T	-0.41	0.14000	N	0.122	0.11340	-0.9763	0.35838	T	0.119	0.41691	T	10	0.0031855106	0.00054	T	0.023074	0.46020	T	0.153	0.40148	.	.	0.682620645307	0.67991	0.09349703384311592	0.09281	0.547617317085	0.51724	0.213531345129	0.00970	T	0.018025	0.14600	T	-0.470027	0.00850	T	-0.432342	0.29670	T	0.0023338984139605	0.00024	T	0.320668	0.06474	T	0.035793882	0.04282	0.026483964	0.00740	0.035793882	0.04282	0.026483964	0.00740	-4.465	0.30428	T	.	.	0.068	0.02829	B	.	.	1.382203	0.17940	13.46	0.88942789989845961	0.18381	0.10522	0.16006	N	AEFDBCI	.	.	.	-1.30341724546518	0.03636	0.1627715	-1.28658579650846	0.04611	0.2178996	0.99825570180393	0.36648	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.33	-0.506	0.11391	0.121000	0.15496	0.321000	0.17185	-1.642000	0.00838	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1423:0.5578:0.0:0.2999	7.239	0.25262	870	0.31527	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	2780.43	34	chr15	101065985	.	C	T	2780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.045;DP=557;ExcessHet=0;FS=1.613;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.088;SOR=0.769	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1104	9	0	1	0
chr15	101701091	101701091	T	A	exonic	TARS3	.	nonsynonymous SNV	TARS3:NM_152334:exon10:c.A1315T:p.I439L	.	436	1076	8	2	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00900662685794	0.0005	0.00179712	0.0017	0.0003	0.0010	0	0.0003	0.0007	0.0023	0.0084	0.0014942	231	154602	rs150805412	0.0013	0.0013	0.0011	0.0014	0.0076	0.0012	0.0012	0.0071	0.0069	0.0003	0.0004	0.0006	0	0.0003	0.0025	0.0010	0.0007	0.0076	0.0008	0.0009	0.0007	0.0010	0.0079	0.0007	0.0007	0.0059	0.0052	0.0003	0	0.0004	0	0	0.0007	0	0.0009	0.0024	0.0079	0.371	0.11514	T	0.448	0.13030	T	0.11	0.26188	B	0.101	0.30765	B	0.000035	0.55875	N	0.149052	0.999776	0.48980	D	0.66	0.16226	N	-0.25	0.67011	T	-1.37	0.33998	N	0.566	0.58968	-1.0290	0.20778	T	0.140	0.45979	T	10	0.013333887	0.00283	T	0.009007	0.23726	T	0.141	0.37795	0.56	0.67958	0.627559020554	0.62452	0.760070778159569	0.75955	0.0614258353002	0.06845	0.504691362381	0.39482	T	0.036	0.23935	T	-0.348436	0.04826	T	-0.268855	0.47934	T	0.0243839632859361	0.01193	T	0.956004	0.83260	D	0.17933126	0.38999	0.10940309	0.26367	0.17933126	0.38999	0.10940309	0.26366	-7.359	0.56615	T	.	.	0.097	0.15609	B	.;.	.;.	3.249966	0.44396	21.9	0.96731224018496398	0.30888	0.97337	0.74114	D	AEFBI	0.691528	0.65149	D	-0.290047835886278	0.29532	1.638516	-0.117274390366366	0.34693	1.998562	0.608110885658138	0.21781	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.81	3.65	0.40985	5.972000	0.70147	3.412000	0.38196	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1705:0.8295	9.995	0.41065	917	0.20147	Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain;Aminoacyl-tRNA synthetase, class II|Threonine-tRNA ligase catalytic core domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.002924	0.000000	0.000000	0.006135	0.003788	0.05	433.43	33	chr15	101701091	.	T	A	433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=351;ExcessHet=0;FS=4.908;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.522;SOR=1.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1047	9	0	1	0
chr16	176809	176813	GAGGT	-	exonic	HBA1	.	nonframeshift deletion	HBA1:NM_000558:exon1:c.93_95del:p.R32del	Erythremias, alpha- (3);Heinz body anemias, alpha-, Autosomal dominant;Hemoglobin H disease, nondeletional;Methemoglobinemias, alpha- (3);Thalassemias, alpha-	6	1502	14	0	0	14	0.00463883	.	.	.	1038385	Erythrocytosis,_familial,_7|not_provided|alpha_Thalassemia	MONDO:MONDO:0054802,MedGen:C4693823,OMIM:617981|MedGen:C3661900|MONDO:MONDO:0011399,MedGen:C0002312,OMIM:604131,Orphanet:846	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181505507	3.39e-05	8.965e-05	2.577e-05	4.215e-05	0.0035	2.612e-05	2.341e-05	0.0021	0.0017	0	0.0001	0	0	0	0.0035	1.599e-05	0.0001	3.722e-05	2.757e-05	3.959e-05	2.682e-05	2.837e-05	6.764e-05	8.44e-06	5.34e-06	1.211e-05	6.36e-06	0	0	6.764e-05	0	0	0	0	4.563e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	654.39	43	chr16	176808	.	AGAGGT	A	654.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.652;DP=345;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.62;MQRankSum=0.341;QD=13.63;ReadPosRankSum=0.219;SOR=0.813	GT:AD:DP:GQ:PL	0/0:26,0:26:60:0,60,900	9	0	1	0
chr16	282626	282626	G	A	exonic	ARHGDIG	.	nonsynonymous SNV	ARHGDIG:NM_001176:exon6:c.G490A:p.V164I	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0159108368334	7.7e-05	0.000199681	0.0003	0	0.0032	0	0	3.111e-05	0	0.0003	0.0001423	22	154602	rs201741302	8.17e-05	8.824e-05	8.792e-05	7.538e-05	0.0014	6.951e-05	6.498e-05	0.0011	0.0010	9.013e-05	0.0014	0	2.546e-05	0.0002	0	2.537e-05	5.032e-05	0.0002	5.912e-05	5.905e-05	8.997e-05	2.687e-05	0.0004	3.077e-05	2.21e-05	0.0002	0.0001	0	0	0.0004	0	0.0002	9.418e-05	0	1.471e-05	0	0	0.187	0.25560	T	0.222	0.30143	T	0.007	0.14184	B	0.009	0.14300	B	0.402957	0.13100	N	0.662272	0.999986	0.18198	N	1.79	0.46772	L	.	.	.	-0.4	0.15379	N	0.093	0.07262	-1.0236	0.22541	T	0.080	0.31705	T	9	0.014816493	0.00311	T	0.015911	0.36899	T	0.016	0.02506	.	.	0.44770609447	0.44391	0.11389473140327144	0.11317	0.0553159975291	0.06117	0.396945089102	0.24644	T	0.158216	0.50115	T	-0.526804	0.00401	T	-0.548509	0.17470	T	0.0231598237729006	0.01043	T	0.634137	0.37862	T	0.030576706	0.02745	0.036496066	0.03107	0.030576706	0.02744	0.036496066	0.03107	-4.638	0.32646	T	.	.	0.091	0.13690	B	.;.;.	.;.;.	3.038669	0.40726	21.2	0.97017602159731142	0.32010	0.30643	0.24135	N	AEFDBI	0.281521	0.39508	N	-0.587917005625085	0.19310	1.009658	-0.567879680437363	0.20332	1.095005	0.0518641919751778	0.14887	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.94	1.88	0.24630	1.953000	0.39977	1.989000	0.30069	0.674000	0.70861	0.076000	0.22236	0.834000	0.27239	0.956000	0.50813	0.3678:0.0:0.6322:0.0	6.036	0.18932	743	0.52768	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.1	1982.14	40	chr16	282626	.	G	A	1982.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.045;DP=500;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=1.2;SOR=0.658	GT:AD:DP:GQ:PL	0/1:39,40:79:99:941,0,942	8	0	2	0
chr16	285530	285530	G	T	exonic	PDIA2	.	nonsynonymous SNV	PDIA2:NM_006849:exon7:c.G946T:p.A316S	.	430	1083	9	0	0	9	0.00413793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00922234360466	0.0029	0.00139776	0.0029	0.0005	0.0023	0	0.0008	0.0046	0.0011	0.0004	0.0026326	407	154602	rs145351921	0.0038	0.0038	0.0038	0.0037	0.0043	0.0037	0.0036	0.0042	0.0041	0.0006	0.0030	0.0071	2.519e-05	0.0018	0.0028	0.0043	0.0033	0.0008	0.0030	0.0030	0.0030	0.0030	0.0061	0.0027	0.0027	0.0051	0.0047	0.0008	0	0.0061	0.0063	0	0.0008	0.0034	0.0043	0.0014	0.0004	0.722	0.05485	T	0.655	0.06621	T	0.002	0.09854	B	0.014	0.16862	B	0.108310	0.19533	N	0.514813	1	0.08975	N	1.445	0.36358	L	2.67	0.12473	T	0.9	0.01618	N	0.225	0.25253	-1.0230	0.22736	T	0.025	0.10866	T	10	0.0061183274	0.00138	T	0.009222	0.24225	T	0.019	0.03383	.	.	0.21737058555	0.21362	0.3999918558102184	0.39914	.	.	0.426299333572	0.28702	T	0.007525	0.06930	T	-0.619809	0.00110	T	-0.662823	0.08076	T	0.00219660188476689	0.00023	T	0.50325	0.15827	T	0.08271485	0.19066	0.06492982	0.13085	0.08271485	0.19066	0.06492982	0.13084	-2.491	0.05997	T	.	.	0.082	0.08802	B	.;.	.;.	1.620854	0.20700	14.87	0.64506354351671213	0.07512	0.24164	0.22308	N	AEFDBCI	0.276052	0.39087	N	-0.649869483523664	0.17464	0.8988896	-0.596423600209695	0.19585	1.051485	0.0901689293654065	0.16102	0.646311	0.45356	0	0.524598	0.11158	1	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.13	3.18	0.35615	1.497000	0.35257	2.559000	0.33304	0.612000	0.49041	0.188000	0.24163	0.969000	0.29651	0.106000	0.18562	0.0961:0.0:0.9039:0.0	10.818	0.45791	758	0.50837	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	863.43	35	chr16	285530	.	G	T	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.244;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.32;SOR=0.743	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1247	9	0	1	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011735	0.010638	0.004098	0.005952	0.000000	0.008621	0.018750	0.030534	0.1	3081.14	131	chr16	377699	.	C	G	3081.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.845;DP=937;ExcessHet=0.2348;FS=4.618;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.462;SOR=0.454	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	8	0	2	0
chr16	519002	519002	C	T	exonic	RAB11FIP3	.	nonsynonymous SNV	RAB11FIP3:NM_001142272:exon8:c.C770T:p.A257V,RAB11FIP3:NM_014700:exon10:c.C1700T:p.A567V,RAB11FIP3:NM_001370401:exon11:c.C1835T:p.A612V	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.0437206870333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	4.086e-06	0	0.0005	5.5e-07	1.5e-07	0.0001	7.541e-05	0	0	0	0	0	0.0005	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.57480	T	0.125	0.35330	T	0.999	0.90584	D	0.994	0.86255	D	.	.	.	.	1	0.81001	D	2.425	0.70256	M	.	.	.	-2.82	0.59545	D	0.67	0.68169	-0.2566	0.76180	T	0.391	0.74488	T	8	0.37554854	0.53803	T	0.043721	0.61130	D	0.369	0.68844	0.077	0.00572	0.479878309988	0.47616	0.28636483331691365	0.28549	0.871720008498	0.69427	0.638849496841	0.58400	T	0.125	0.45075	T	0.0956757	0.63822	D	-0.100345	0.63372	T	0.970506072044373	0.68973	D	.	.	.	0.14231993	0.32758	0.23000659	0.48089	0.14231993	0.32758	0.23000659	0.48088	-8.576	0.75729	D	.	.	0.574	0.67819	P	.;.;.	.;.;.	4.865576	0.79668	27.2	0.99863001481749114	0.94093	0.95992	0.67046	D	AEFDGBHCI	0.763824	0.70080	D	0.547062078648954	0.69904	5.423652	0.483068212536089	0.66868	5.008474	0.999999999999741	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.92	4.92	0.64147	7.687000	0.83428	5.941000	0.51480	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	17.469	0.87533	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1743.43	33	chr16	519002	.	C	T	1743.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=461;ExcessHet=0;FS=2.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-0.693;SOR=0.94	GT:AD:DP:GQ:PL	0/1:67,79:146:99:1755,0,1518	9	0	1	0
chr16	583501	583501	C	T	exonic	PIGQ	.	nonsynonymous SNV	PIGQ:NM_148920:exon10:c.C2150T:p.P717L	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00619420514973	.	.	4.205e-05	0	0	0	0	4.624e-05	0	0.0001	3.88e-05	6	154602	rs777576517	2.123e-05	2.121e-05	1.771e-05	2.477e-05	0.0026	1.521e-05	1.325e-05	0.0016	0.0013	2.987e-05	2.237e-05	0	0	0	0.0026	7.195e-06	6.625e-05	2.319e-05	3.94e-05	3.937e-05	2.57e-05	5.373e-05	.	1.715e-05	1.129e-05	.	.	0	0	0	0	0	0	0.0204	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.18878	N	0	0.06538	N	1.89	0.23688	T	-0.13	0.08971	N	0.116	0.10483	-0.9934	0.31722	T	0.028	0.12147	T	8	0.05603975	0.06219	T	0.006194	0.16229	T	0.013	0.01715	0.318	0.29581	0.29132392195	0.28731	0.04445148083100922	0.04389	0.136765815068	0.15425	0.387601912022	0.23331	T	0.033167	0.22801	T	-0.3872	0.02804	T	-0.663512	0.08031	T	0.0930540664186085	0.11575	T	0.433957	0.11861	T	0.036667857	0.04556	0.056293417	0.10031	0.036667857	0.04556	0.056293417	0.10031	-3.732	0.19791	T	.	.	0.083	0.09045	B	.	.	0.562570	0.09313	6.093	0.92939509903427675	0.22508	0.05355	0.11213	N	AEFDBCI	0.070320	0.13955	N	-1.01650803753162	0.08261	0.3867071	-1.01969275965569	0.09353	0.4648058	0.991605795854557	0.32545	0.634777	0.41761	0	0.643519	0.57511	0	0.26897	0.05253	2	0.562822	0.20929	0	.	.	3.55	2.58	0.30011	-1.116000	0.03397	-0.098000	0.11976	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.8749:0.0:0.1251	7.726	0.27922	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003024	0.005051	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1854.43	171	chr16	583501	.	C	T	1854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=655;ExcessHet=0;FS=0.569;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.574;SOR=0.684	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr16	633290	633290	C	T	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.C880T:p.P294S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.0143520740483	.	.	8.384e-05	0	0	0	0	0.0001	0.0031	0	3.23e-05	5	154602	rs771102109	1.813e-05	2.189e-05	1.662e-05	1.967e-05	2.406e-05	1.262e-05	1.072e-05	5.35e-06	3.91e-06	0	0	0	0	0.0002	0	9.975e-06	3.366e-05	2.406e-05	3.285e-05	3.283e-05	3.854e-05	2.689e-05	2.94e-05	1.261e-05	7.98e-06	4.88e-06	1.83e-06	0	0	0	0	0	0.0003	0	2.94e-05	0	0	0.133	0.26409	T	0.09	0.40267	T	0.001	0.07471	B	0.002	0.06944	B	0.002186	0.37053	U	0.225743	1	0.08975	N	0.69	0.16971	N	-0.45	0.69896	T	-2.97	0.61865	D	0.043	0.01577	-0.9718	0.36819	T	0.174	0.51737	T	10	0.063440025	0.08264	T	0.014352	0.34408	T	0.070	0.20419	0.268	0.21576	0.282575091529	0.27877	0.2855127643305309	0.28464	0.114350962991	0.12892	0.468533277512	0.34478	T	0.165437	0.51128	T	-0.270361	0.11717	T	-0.518475	0.20449	T	0.0280928185548542	0.01701	T	0.352565	0.07917	T	0.043736838	0.06868	0.06222071	0.12138	0.043736838	0.06868	0.06222071	0.12138	-4.58	0.31920	T	.	.	0.076	0.05935	B	.	.	0.584629	0.09533	6.307	0.91554612880113595	0.20833	0.11081	0.16394	N	AEFBCI	0.107284	0.21379	N	-0.918016106993844	0.10421	0.4978847	-0.944348279167968	0.11055	0.5608167	0.999828792590429	0.43622	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.7	1.63	0.22882	1.010000	0.29500	-0.322000	0.09956	0.522000	0.23927	0.001000	0.13787	0.000000	0.08366	0.059000	0.15899	0.1418:0.6265:0.152:0.0798	5.386	0.15519	649	0.63102	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	738.43	37	chr16	633290	.	C	T	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.916;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.872;SOR=0.709	GT:AD:DP:GQ:PL	0/1:35,33:68:99:750,0,880	9	0	1	0
chr16	651860	651860	C	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon9:c.C874A:p.P292T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0114463718031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.018	0.59732	D	0.958	0.54977	D	0.579	0.50152	P	0.268766	0.03758	U	1.981610	0.999999	0.08975	N	2.545	0.74286	M	1.46	0.32958	T	-3.81	0.71882	D	0.136	0.13341	-1.0373	0.18140	T	0.175	0.51848	T	10	0.11938313	0.22591	T	0.011446	0.29087	T	0.057	0.16321	0.199	0.11247	0.18274738541	0.17906	0.21672370675044816	0.21588	0.131226242249	0.14795	0.305827319622	0.11277	T	0.054168	0.29647	T	-0.20299	0.20373	T	-0.529357	0.19350	T	0.595296919345856	0.36214	D	0.557644	0.19406	T	0.09292102	0.21811	0.08139688	0.18494	0.09292102	0.21811	0.08139688	0.18494	-4.83	0.34939	T	.	.	0.099	0.16494	B	.;.	.;.	1.426977	0.18448	13.74	0.99200490853633227	0.55261	0.14907	0.18647	N	AEFBI	0.064881	0.12623	N	-0.586533584956208	0.19352	1.012188	-0.795265068511436	0.14611	0.7643251	0.999992966030871	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	3.94	0.663	0.17054	0.260000	0.18192	0.412000	0.18122	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.502:0.3868:0.1112	5.763	0.17478	654	0.62520	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1807.43	34	chr16	651860	.	C	A	1807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.4;DP=455;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.344;SOR=0.764	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr16	682984	682984	C	T	exonic	JMJD8	.	nonsynonymous SNV	JMJD8:NM_001323920:exon7:c.G593A:p.R198Q,JMJD8:NM_001323922:exon7:c.G593A:p.R198Q,JMJD8:NM_001005920:exon8:c.G683A:p.R228Q,JMJD8:NM_001323918:exon8:c.G683A:p.R228Q	.	416	1095	9	0	2	11	0.00409277	.	.	.	2758933	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0782045195388	.	0.000199681	2.52e-05	0	0	0.0001	0	1.528e-05	0	6.089e-05	2.59e-05	4	154602	rs200168703	1.232e-05	1.231e-05	8.172e-06	1.651e-05	0.0003	7.7e-06	6.35e-06	6.094e-05	2.522e-05	2.987e-05	0	0	2.519e-05	0	0.0003	8.994e-06	1.657e-05	3.478e-05	1.969e-05	1.968e-05	3.854e-05	0	0.0002	5.24e-06	2.45e-06	.	.	2.405e-05	0	6.532e-05	0	0.0002	0	0	0	0	0	0.118	0.29823	T	0.566	0.10173	T	.	.	.	.	.	.	0.012179	0.29266	N	0.311579	0.993509	0.41961	D	.	.	.	-0.55	0.71068	T	-1.28	0.34198	N	0.349	0.39760	-0.6699	0.61833	T	0.220	0.58292	T	10	0.14693078	0.27849	T	0.078205	0.72950	D	0.145	0.38592	.	.	0.417971555824	0.41416	0.5012058606327796	0.50042	0.035236728144	0.03713	0.307548940182	0.11537	T	.	.	.	-0.180551	0.23652	T	-0.327997	0.41691	T	0.144772902131081	0.16679	T	0.944306	0.78939	D	0.075110175	0.16902	0.08510762	0.19628	0.075110175	0.16901	0.08510762	0.19627	-5.938	0.45758	T	.	.	0.073	0.11941	B	.;.;.	.;.;.	1.823361	0.23168	15.91	0.98255746230591146	0.39621	0.30513	0.24101	N	AEFDGBHCI	0.145455	0.26866	N	-0.560648302165849	0.20151	1.060195	-0.677428023660133	0.17526	0.9322923	0.999999999650229	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.639134	0.45391	0	0.735409	0.98432	0	.	.	4.42	2.48	0.29194	0.938000	0.28562	0.775000	0.21430	-0.182000	0.10109	0.001000	0.13787	0.204000	0.23592	0.013000	0.09966	0.0:0.8279:0.0:0.1721	9.429	0.37760	632	0.64850	.;JmjC domain;JmjC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	795.43	36	chr16	682984	.	C	T	795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.73;DP=398;ExcessHet=0;FS=4.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-4.177;SOR=1.088	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr16	717164	717164	C	T	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon4:c.C659T:p.P220L	.	427	1082	13	0	0	13	0.00597152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00226248385481	0.0014	0.00119808	0.0014	0.0041	0.0005	0	0	0.0003	0	0.0058	0.0008473	131	154602	rs150417120	0.0006	0.0006	0.0004	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	0.0042	0.0003	0	2.543e-05	0	0.0030	0.0001	0.0007	0.0052	0.0014	0.0014	0.0013	0.0015	0.0052	0.0012	0.0012	0.0036	0.0031	0.0037	0	0.0003	0	0	0	0.0170	0.0003	0.0009	0.0052	0.696	0.04226	T	0.684	0.23984	T	0.0	0.02946	B	0.0	0.01387	B	0.046368	0.23446	N	0.420026	1	0.08975	N	-1.95	0.00216	N	1.71	0.26737	T	1.45	0.00835	N	0.044	0.12770	-0.9802	0.34955	T	0.017	0.06759	T	9	0.0034618378	0.00061	T	0.002262	0.04314	T	.	.	.	.	0.0551355673512	0.04727	0.40429874683861805	0.40345	0.264844217052	0.29036	0.344975709915	0.17180	T	0.003143	0.02546	T	-0.579012	0.00195	T	-0.603534	0.12516	T	0.00177680713760877	0.00018	T	0.60384	0.22664	T	0.021980561	0.00832	0.024941843	0.00524	0.021980561	0.00832	0.024941843	0.00524	-3.034	0.10552	T	.	.	0.051	0.00259	B	.;.	.;.	0.377872	0.07500	4.142	0.79010860548426631	0.12550	0.00887	0.03492	N	AEFGBHCI	0.086726	0.17585	N	-1.48553118158024	0.01952	0.08568558	-1.39632914982578	0.03291	0.1532207	0.999998413834424	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.493711	0.08198	1	0.699875	0.68795	0	.	.	4.94	1.36	0.21139	1.467000	0.34930	-0.273000	0.10332	-0.131000	0.13161	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	0.0:0.2552:0.161:0.5838	4.444	0.11009	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008603	0.000000	0.009537	0.005952	0.000000	0.008621	0.000000	0.018939	0.05	2503.43	39	chr16	717164	.	C	T	2503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=521;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.458;SOR=0.756	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1620	9	0	1	0
chr16	728857	728857	T	C	exonic	HAGHL	.	nonsynonymous SNV	HAGHL:NM_032304:exon6:c.T562C:p.C188R,HAGHL:NM_001290137:exon7:c.T562C:p.C188R,HAGHL:NM_001290139:exon7:c.T562C:p.C188R,HAGHL:NM_001323635:exon7:c.T562C:p.C188R,HAGHL:NM_001323636:exon7:c.T562C:p.C188R,HAGHL:NM_001365282:exon7:c.T562C:p.C188R	.	431	1078	13	0	0	13	0.00599355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0773881215239	0.0002	0.000998403	0.0009	0	0.0003	0	0	0.0003	0	0.0048	0.0006274	97	154602	rs149082510	0.0005	0.0004	0.0003	0.0006	0.0052	0.0004	0.0004	0.0048	0.0046	3.034e-05	0.0003	0	0	0	0.0026	0.0001	0.0005	0.0052	0.0004	0.0004	0.0003	0.0005	0.0055	0.0003	0.0003	0.0038	0.0033	0	0	0.0001	0	0.0002	0	0.0176	0.0003	0.0010	0.0055	0.52	0.22312	T	0.531	0.21478	T	0.011	0.32608	B	0.003	0.24975	B	0.949066	0.07644	N	1.023790	0.999996	0.08975	N	0.345	0.11182	N	-3.65	0.95179	D	-0.35	0.15578	N	0.046	0.06322	-0.4036	0.71914	T	0.519	0.82009	D	10	0.011203229	0.00246	T	0.077388	0.72759	D	0.188	0.46444	.	.	0.33110744837	0.32714	0.3462574308157688	0.34539	0.342726518813	0.36201	0.48286563158	0.36451	T	0.014856	0.14410	T	-0.287706	0.09868	T	-0.185231	0.56036	T	0.012360876234623	0.00202	T	0.218178	0.02774	T	0.16949926	0.37469	0.08519172	0.19652	0.16949926	0.37469	0.08519172	0.19651	-4.033	0.24296	T	.	.	0.118	0.24226	B	.;.;.;.	.;.;.;.	0.945708	0.13218	9.717	0.628519671272458	0.07069	0.21238	0.21331	N	AEFDGBHCI	0.313896	0.41892	N	-1.15548025119938	0.05690	0.2600612	-1.23826192218242	0.05307	0.252553	0.999999999998732	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.554799	0.18163	0	.	.	4.74	-5.67	0.02247	0.184000	0.16748	-5.007000	0.01889	-0.157000	0.11712	0.014000	0.18986	0.000000	0.08366	0.825000	0.38878	0.3067:0.1819:0.3362:0.1753	0.782	0.00976	658	0.62094	.;.;Hydroxyacylglutathione hydrolase, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007560	0.000000	0.005435	0.005882	0.000000	0.017241	0.000000	0.018939	0.05	1376.43	46	chr16	728857	.	T	C	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.078;DP=486;ExcessHet=0;FS=1.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-2.185;SOR=0.931	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr16	807523	807523	C	T	exonic	PRR25	.	nonsynonymous SNV	PRR25:NM_001013638:exon2:c.C520T:p.R174C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00464191312179	.	.	0.0001	0	0	0.0018	0	7.614e-05	0	0	4.53e-05	7	154602	rs748597745	1.83e-05	2.463e-05	1.397e-05	2.269e-05	0.0012	1.273e-05	1.082e-05	0.0005	0.0004	6.686e-05	0	0	2.774e-05	0	0.0012	9.134e-06	6.828e-05	3.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003096	0.000000	0.000000	0.008929	0.000000	0.008772	0.003185	0.003846	0.05	437.43	36	chr16	807523	.	C	T	437.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.37;DP=310;ExcessHet=0;FS=1.204;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-2.093;SOR=0.655	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,658	9	0	1	0
chr16	1094052	1094052	C	T	splicing	C1QTNF8	NM_207419:exon4:c.209-1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0758863	0.61556	D	-0.128771	0.61077	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.711585	0.75700	26.4	0.98652080221247451	0.44206	0.85995	0.45197	D	AEFDGBHCI	.	.	.	0.910014424485303	0.92242	11.312	0.68865881556364	0.81517	7.545311	0.999541699254384	0.40300	0.056701	0.00814	0	0.063554	0.01753	0	0.065574	0.01856	0	0.079188	0.02158	0	0.749423	0.44574	4.05	4.05	0.46415	4.964000	0.63410	3.225000	0.36875	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.431000	0.27472	0.0:0.8157:0.1843:0.0	11.322	0.48665	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	290.43	34	chr16	1094052	.	C	T	290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.786;DP=326;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=2.03;SOR=1.402	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1124	9	0	1	0
chr16	1195509	1195509	G	C	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon4:c.G489C:p.Q163H,CACNA1H:NM_021098:exon4:c.G489C:p.Q163H	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1451	66	5	0	76	0.0255205	.	.	.	465730	not_provided|Epilepsy,_childhood_absence,_susceptibility_to,_6|Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MedGen:C3661900|MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.589	.	0.0017	0.00499201	0.0091	0.0009	0.0046	0	0.0119	0.0073	0.0165	0.0222	0.0041591	643	154602	rs60593994	0.0041	0.0041	0.0036	0.0045	0.0208	0.0040	0.0039	0.0178	0.0167	0.0008	0.0024	0.0046	5.098e-05	0.0052	0.0208	0.0032	0.0048	0.0170	0.0036	0.0036	0.0032	0.0041	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0022	0.0029	0.0049	0.0006	0.0076	0.0102	0.0043	0.0043	0.0162	0.061	0.37118	T	0.028	0.54934	D	0.051	0.73220	B	0.044	0.67021	B	0.187939	0.16925	N	0.589948	0.933575	0.26992	N	0.755	0.19153	N	-4.96	0.98448	D	-2.3	0.51157	N	0.487	0.53445	0.503	0.90584	D	0.856	0.95210	D	10	0.009828389	0.00221	T	.	.	.	0.589	0.83582	0.492	0.57890	0.907716034186	0.90679	0.6053794673270226	0.60468	.	.	0.537974953651	0.44159	T	0.579796	0.86222	D	-0.154178	0.27659	T	0.0193832	0.71591	D	0.0115321058971988	0.00174	T	0.868713	0.57175	D	0.3267669	0.55205	0.17381215	0.39733	0.27811882	0.50866	0.23346187	0.48535	-4.751	0.34015	T	0.2448169002887968	0.33160	0.276	0.54492	B	.;.;.;.	.;.;.;.	3.993221	0.58790	24.0	0.99663114981693679	0.78074	0.76265	0.37391	D	AEFDBHCI	0.382935	0.46463	N	-0.0927476318306143	0.37709	2.197865	-0.0337636271135359	0.38200	2.247254	0.945066235711583	0.27644	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.69	2.7	0.31007	1.632000	0.36715	1.521000	0.27092	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.096:0.0:0.904:0.0	10.865	0.46058	946	0.12043	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021673	0.020202	0.012262	0.020468	0.000000	0.043103	0.021472	0.022901	0.05	2015.43	33	chr16	1195509	.	G	C	2015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.159;DP=514;ExcessHet=0;FS=1.76;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.667;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1128	9	0	1	0
chr16	1221910	1221910	G	T	exonic	TPSG1	.	nonsynonymous SNV	TPSG1:NM_012467:exon6:c.C844A:p.L282I	.	402	1117	3	0	0	3	0.00134108	.	.	.	726420	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.086	0.02628828882	0.0029	0.000998403	0.0025	0.0008	0.0008	0	0.0003	0.0040	0.0012	0.0005	0.0025485	394	154602	rs117001332	0.0042	0.0042	0.0044	0.0041	0.0052	0.0042	0.0041	0.0051	0.0051	0.0004	0.0014	3.842e-05	0	0.0004	0.0014	0.0052	0.0033	0.0010	0.0027	0.0027	0.0029	0.0025	0.0050	0.0025	0.0024	0.0045	0.0044	0.0007	0.0066	0.0015	0	0	0.0008	0	0.0050	0.0019	0.0002	0.555	0.06482	T	0.442	0.13252	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.29	0.87591	D	-0.16	0.09460	N	0.087	0.06454	-0.8749	0.50158	T	0.243	0.61201	T	9	0.0046982765	0.00099	T	0.026288	0.49208	D	0.086	0.25016	.	.	0.298056030225	0.29408	0.1617490073080952	0.16095	0.0053799110228	0.00472	0.293233036995	0.09395	T	.	.	.	-0.432883	0.01424	T	-0.389456	0.34615	T	0.000594509451174845	0.00005	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11124	B	.	.	0.878579	0.12517	9.047	0.96908087731935455	0.31566	0.07852	0.13844	N	AEFDBCI	0.088148	0.17870	N	-1.12049972051623	0.06279	0.2886243	-1.14347386445851	0.06885	0.3329891	0.968831800704342	0.29082	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.05	-0.997	0.09693	-0.175000	0.09816	-0.064000	0.12386	0.612000	0.49041	0.000000	0.06391	0.000000	0.08366	0.179000	0.21265	0.098:0.1529:0.4369:0.3122	2.791	0.05058	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3148.14	125	chr16	1221910	.	G	T	3148.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.14;DP=710;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-1.189;SOR=0.717	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1212	8	0	2	0
chr16	1258332	1258332	G	A	exonic	TPSD1	.	nonsynonymous SNV	TPSD1:NM_012217:exon5:c.G685A:p.G229S	.	390	1107	23	2	0	27	0.0120482	0.9334	0.564	.	714734	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.703	.	0.0102	0.00479233	0.0075	0.0016	0.0039	0	0.0045	0.0110	0.0100	0.0043	0.0074126	1146	154602	rs142998820	0.0093	0.0093	0.0093	0.0093	0.0111	0.0091	0.0091	0.0097	0.0097	0.0017	0.0045	0.0359	0	0.0044	0.0111	0.0099	0.0098	0.0052	0.0078	0.0078	0.0081	0.0074	0.0112	0.0074	0.0073	0.0105	0.0102	0.0017	0.0417	0.0055	0.0369	0	0.0046	0.0102	0.0112	0.0085	0.0060	0.009	0.57480	D	0.017	0.60972	D	1.0	0.90584	D	1.0	0.97372	D	0.000228	0.47286	D	0.000000	1	0.81001	D	3.005	0.85968	M	-4.61	0.97866	D	-4.61	0.79060	D	0.429	0.46928	0.728	0.93516	D	0.919	0.97318	D	9	0.016424358	0.00346	T	.	.	.	0.703	0.89330	.	.	0.804267880867	0.80244	0.6752871873496633	0.67466	0.0621744941598	0.06921	0.610076010227	0.54326	T	0.578527	0.86161	D	-0.197127	0.21220	T	-0.0465408	0.67259	D	0.0270117525147711	0.01546	T	0.931607	0.74555	D	0.5408749	0.69445	0.44220585	0.67478	0.5408749	0.69446	0.44220585	0.67479	-7.504	0.57638	D	.	.	0.831	0.78781	P	.;.	.;.	3.110988	0.41967	21.5	0.99648163673959289	0.77130	0.85664	0.44821	D	AEFDGBI	0.573316	0.57655	D	0.496551587034075	0.66887	5.008855	0.276815368016481	0.54188	3.584628	0.559815261531564	0.21404	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.56	1.43	0.21585	2.491000	0.44961	5.272000	0.48155	0.579000	0.29447	0.994000	0.38300	1.000000	0.68203	0.020000	0.11549	0.0:0.2335:0.7665:0.0	8.842	0.34308	889	0.27310	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.010101	0.008152	0.014620	0.000000	0.000000	0.012195	0.003788	0.1	3955.14	35	chr16	1258332	.	G	A	3955.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.16;DP=590;ExcessHet=0.2348;FS=2.459;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.87;SOR=0.752	GT:AD:DP:GQ:PL	0/1:65,57:122:99:1614,0,1643	8	0	2	0
chr16	1338575	1338575	G	C	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.G26C:p.S9T,BAIAP3:NM_001199097:exon2:c.G26C:p.S9T,BAIAP3:NM_001199098:exon2:c.G26C:p.S9T,BAIAP3:NM_001199099:exon2:c.G26C:p.S9T,BAIAP3:NM_001286464:exon2:c.G26C:p.S9T,BAIAP3:NM_003933:exon2:c.G131C:p.S44T	.	.	.	.	.	.	.	.	.	.	.	2377065	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.283425182867	.	.	4.3e-05	0	0	0	0	7.655e-05	0	0	2.59e-05	4	154602	rs778099100	2.949e-05	2.941e-05	3.138e-05	2.758e-05	0.0006	2.222e-05	1.975e-05	0.0001	7.971e-05	0.0001	0	0	0	0	0.0006	2.881e-05	4.98e-05	1.166e-05	1.975e-05	1.971e-05	2.573e-05	1.348e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.513748	0.31840	D	2.47	0.71715	M	-0.85	0.85875	T	-1.07	0.31170	N	0.438	0.57263	-0.0219	0.81800	T	0.517	0.81946	D	10	0.32610685	0.49912	T	0.283425	0.90312	D	0.275	0.59130	0.179	0.08626	0.919509768602	0.91869	0.5019554868937898	0.50117	0.4403143847	0.44044	0.58450371027	0.50719	T	0.015525	0.13004	T	-0.0946415	0.37309	T	-0.174729	0.57009	T	0.41522902704126	0.29513	T	0.79652	0.59504	T	0.53212565	0.68951	0.5074389	0.71533	0.53212565	0.68952	0.5074389	0.71533	-4.48	0.30836	T	.	.	0.274	0.54926	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.026005	0.59503	24.1	0.99635246520776688	0.76326	0.64570	0.32450	D	AEFDBCI	0.399949	0.47503	N	0.420743365747856	0.62563	4.474322	0.375531536611118	0.60061	4.189538	0.998531431432562	0.37148	0.533608	0.22052	0	0.61073	0.52368	0	0.491614	0.08109	1	0.584449	0.35598	0	.	.	4.01	4.01	0.45821	0.961000	0.28864	8.489000	0.77323	0.618000	0.50648	0.009000	0.18154	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	11.818	0.51495	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1126.43	39	chr16	1338575	.	G	C	1126.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.673;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-1.349;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1055	9	0	1	0
chr16	1338671	1338671	C	T	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon2:c.C122T:p.T41M,BAIAP3:NM_001199097:exon2:c.C122T:p.T41M,BAIAP3:NM_001199098:exon2:c.C122T:p.T41M,BAIAP3:NM_001199099:exon2:c.C122T:p.T41M,BAIAP3:NM_001286464:exon2:c.C122T:p.T41M,BAIAP3:NM_003933:exon2:c.C227T:p.T76M	.	422	1071	28	1	0	30	0.0138122	.	.	.	2810771	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.157	0.133938732546	0.0032	0.00239617	0.0046	0.0017	0.0032	0	0	0.0066	0.0030	0.0034	0.0001153	3	26028	rs116106398	0.0027	0.0027	0.0026	0.0028	0.0148	0.0026	0.0026	0.0120	0.0110	0.0009	0.0027	0.0094	0	0.0004	0.0148	0.0027	0.0035	0.0022	0.0024	0.0024	0.0026	0.0022	0.0034	0.0022	0.0022	0.0030	0.0029	0.0005	0.0186	0.0024	0.0121	0	0.0002	0.0102	0.0034	0.0061	0.0015	0.003	0.68238	D	0.012	0.64786	D	0.909	0.50183	P	0.132	0.33005	B	0.331854	0.04136	N	1.454820	1	0.08975	N	1.95	0.52479	M	-0.66	0.75911	T	-1.67	0.42001	N	0.136	0.18103	-0.7756	0.56548	T	0.256	0.62609	T	10	0.00945434	0.00213	T	0.133939	0.81635	D	0.157	0.40909	.	.	0.809702280485	0.80792	0.18561226831714903	0.18479	0.367601646659	0.38318	0.446947932243	0.31528	T	0.021538	0.16755	T	-0.47248	0.00820	T	-0.453251	0.27339	T	0.0170211522024216	0.00451	T	0.715028	0.33194	T	0.034656517	0.03931	0.08701322	0.20198	0.034656517	0.03930	0.08701322	0.20198	-5.697	0.44189	T	.	.	0.088	0.18080	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.732495	0.22052	15.46	0.98484299658592467	0.42014	0.16601	0.19464	N	AEFDBCI	0.106268	0.21208	N	-0.42113820322934	0.24729	1.337356	-0.556439068400603	0.20635	1.112647	0.0147279066516619	0.12630	0.580535	0.33130	0	0.657636	0.61667	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.59	2.35	0.28166	0.169000	0.16457	0.278000	0.16735	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4479:0.5521:0.0:0.0	9.184	0.36318	872	0.31118	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009654	0.015625	0.014986	0.005882	0.000000	0.017241	0.012422	0.003817	0.05	707.43	39	chr16	1338671	.	C	T	707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=424;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.182;SOR=0.844	GT:AD:DP:GQ:PL	0/1:43,28:71:99:719,0,1007	9	0	1	0
chr16	1344049	1344049	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon15:c.G1306A:p.A436T,BAIAP3:NM_001199097:exon16:c.G1414A:p.A472T,BAIAP3:NM_001199098:exon16:c.G1345A:p.A449T,BAIAP3:NM_001199099:exon16:c.G1330A:p.A444T,BAIAP3:NM_001286464:exon16:c.G1465A:p.A489T,BAIAP3:NM_003933:exon16:c.G1519A:p.A507T	.	424	1097	1	0	0	1	0.000455581	.	.	.	3933766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0951917114744	.	.	8.365e-06	0	0	0	0	1.531e-05	0	0	6.5e-06	1	154602	rs770815658	7.534e-06	7.524e-06	8.178e-06	6.883e-06	0.0002	4.04e-06	2.96e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	4.97e-05	1.159e-05	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.159	0.26192	T	0.153	0.32675	T	0.778	0.44187	P	0.135	0.33210	B	0.066604	0.21799	N	0.484750	0.999977	0.18612	N	1.5	0.37844	L	-0.52	0.70950	T	-1.07	0.27876	N	0.448	0.55886	-0.8969	0.48302	T	0.160	0.49463	T	10	0.21268666	0.37736	T	0.095192	0.76385	D	0.063	0.18251	0.303	0.27164	0.854867278556	0.85346	0.09516593173868977	0.09448	0.443763254566	0.44302	0.486193656921	0.36911	T	0.018975	0.15199	T	-0.191022	0.22108	T	-0.415312	0.31613	T	0.186154184275336	0.19615	T	0.870213	0.58632	D	0.043325372	0.06732	0.042180046	0.04966	0.043325372	0.06731	0.042180046	0.04966	-4.242	0.27355	T	.	.	0.091	0.14751	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.061898	0.41119	21.3	0.9955816075065298	0.71583	0.19997	0.20876	N	AEFDGBCI	0.078424	0.15822	N	-0.121195540874106	0.36470	2.108509	-0.10924691594566	0.35017	2.020895	0.999991437958048	0.74766	0.740716	0.97744	0	0.550933	0.16991	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	4.21	2.01	0.25568	-0.041000	0.12036	6.252000	0.55326	0.614000	0.49286	0.000000	0.06391	1.000000	0.68203	0.954000	0.50415	0.1112:0.1709:0.5183:0.1996	2.402	0.04135	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1175.43	35	chr16	1344049	.	G	A	1175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.052;DP=399;ExcessHet=0;FS=4.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=0.832;SOR=0.337	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr16	1347331	1347331	G	A	exonic	BAIAP3	.	nonsynonymous SNV	BAIAP3:NM_001199096:exon28:c.G2677A:p.G893S,BAIAP3:NM_001199097:exon29:c.G2785A:p.G929S,BAIAP3:NM_001199098:exon29:c.G2716A:p.G906S,BAIAP3:NM_001199099:exon29:c.G2701A:p.G901S,BAIAP3:NM_001286464:exon29:c.G2836A:p.G946S,BAIAP3:NM_003933:exon29:c.G2890A:p.G964S	.	.	.	.	.	.	.	.	.	.	.	2362133	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.884	0.622253970382	.	.	9.268e-05	0	0	0	0.0003	9.208e-05	0	0.0002	9.06e-05	14	154602	rs201823456	7.46e-05	7.456e-05	7.762e-05	7.154e-05	8.543e-05	6.318e-05	5.875e-05	7.135e-05	6.626e-05	2.987e-05	0	0	0	7.549e-05	0	8.543e-05	4.97e-05	6.958e-05	9.198e-05	9.193e-05	0.0001	5.38e-05	8.82e-05	5.527e-05	4.364e-05	3.762e-05	2.575e-05	7.237e-05	0	0	0	0	0.0005	0	8.82e-05	0	0	0.006	0.63226	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	-3.65	0.95179	D	-5.72	0.87531	D	0.842	0.83781	1.050	0.98115	D	0.917	0.97247	D	10	0.9724428	0.96888	D	0.622254	0.96733	D	0.884	0.96614	.	.	0.95704846277	0.95659	0.7402361093434459	0.73968	0.463648763095	0.45864	0.518571555614	0.41424	T	0.315097	0.68672	T	0.20804	0.74645	D	0.263712	0.86269	D	0.898829996585846	0.55100	D	0.915608	0.71813	D	0.6605093	0.75926	0.45643425	0.68406	0.6605093	0.75927	0.45643425	0.68406	-9.041	0.68254	D	.	.	0.458	0.72799	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.481615	0.69927	25.4	0.9970227808883132	0.80729	0.95305	0.64205	D	AEFGBCI	0.805992	0.73043	D	0.700716590308555	0.79678	7.128921	0.595030915221587	0.74581	6.161698	0.999999999991997	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.596874	0.31795	0	0.645665	0.59343	0	.	.	5.08	5.08	0.68373	4.516000	0.60214	11.682000	0.94235	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:0.0:1.0:0.0	15.942	0.79546	862	0.33134	.;.;.;.;Mammalian uncoordinated homology 13, subgroup, domain 2|Mammalian uncoordinated homology 13, domain 2;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	807.43	34	chr16	1347331	.	G	A	807.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.933;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-1.17;SOR=0.678	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	9	0	1	0
chr16	1352110	1352110	C	G	exonic	GNPTG	.	nonsynonymous SNV	GNPTG:NM_032520:exon2:c.C61G:p.P21A	Mucolipidosis III gamma, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1891980	not_provided|Inborn_genetic_diseases|Retinal_dystrophy	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.110	0.775739408946	.	.	0.0001	0	0	0	0	0	0	0.0003	1.94e-05	3	154602	rs778042839	1.686e-05	1.984e-05	1.391e-05	1.987e-05	0.0001	1.141e-05	9.59e-06	6.597e-05	5.012e-05	0	0	0	0	0	0	7.311e-06	0.0001	0.0001	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.789	0.03209	T	0.514	0.18071	T	0.075	0.24198	B	0.018	0.18489	B	0.664663	0.10396	U	0.748207	1	0.08975	N	1.32	0.33002	L	-2.3	0.87671	D	-0.18	0.09796	N	0.205	0.22742	-0.8161	0.54177	T	0.327	0.69555	T	10	0.11647087	0.21971	T	0.775739	0.98230	D	0.141	0.37795	0.235	0.16457	0.514923749907	0.51134	0.4694675371686417	0.46865	0.00671276342962	0.00592	0.71691685915	0.69598	T	0.119381	0.44086	T	-0.250844	0.13993	T	-0.338418	0.40524	T	0.0227542757447439	0.00994	T	0.527047	0.17380	T	0.02305781	0.01014	0.019575182	0.00095	0.02305781	0.01014	0.019575182	0.00095	-2.52	0.05919	T	0.1345384348404422	0.14542	0.048	0.00112	B	.;.	.;.	0.849918	0.12221	8.765	0.6905424940180459	0.08850	0.79800	0.39615	D	AEFDGBHCI	0.085344	0.17300	N	-1.17544226120631	0.05373	0.2447818	-1.22688107143386	0.05481	0.2613078	0.999999999999012	0.74766	0.733237	0.96898	0	0.484254	0.07192	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	4.19	-1.97	0.07091	-0.811000	0.04607	0.516000	0.19122	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.274000	0.23868	0.2718:0.4693:0.0:0.2589	3.996	0.09048	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1361.43	33	chr16	1352110	.	C	G	1361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.91;DP=427;ExcessHet=0;FS=4.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=1.19;SOR=1.165	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,974	9	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3512.36	45	chr16	1397277	.	A	*	3512.36	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.056;DP=806;ExcessHet=5.3821;FS=3.421;InbreedingCoeff=-0.3919;MLEAC=9;MLEAF=0.5;MQ=59.91;MQRankSum=0;QD=6.39;ReadPosRankSum=-0.022;SOR=0.464	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:78,0:78:0:.:.:0,0,0:.	2	1	6	1
chr16	1434535	1434535	C	T	splicing	CCDC154	NM_001143980:exon17:c.1878-1G>A	.	.	.	407	1108	7	0	0	7	0.0031489	1.0000	0.858	.	2810779	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0068	0.0021	0	0	0	0.0116	0.0060	0.0042	0.0014101	218	154602	rs117318560	0.0050	0.0048	0.0051	0.0049	0.0074	0.0049	0.0049	0.0056	0.0050	0.0009	0.0041	0.0239	0	0.0009	0.0074	0.0051	0.0064	0.0029	0.0040	0.0040	0.0044	0.0037	0.0056	0.0038	0.0037	0.0051	0.0049	0.0010	0.0186	0.0033	0.0262	0	0.0003	0.0034	0.0056	0.0062	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.162877	0.26320	T	-0.00592191	0.69951	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.401336	0.68008	25.2	0.99149363192581197	0.53765	0.94912	0.62762	D	AEFBI	.	.	.	0.829010122818223	0.87884	9.374687	0.622105996286619	0.76549	6.511437	0.945855869592766	0.27680	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.974157	0.76750	4.88	4.88	0.63131	1.937000	0.39821	5.346000	0.48359	0.545000	0.25583	0.998000	0.41325	1.000000	0.68203	0.328000	0.25156	0.0:1.0:0.0:0.0	14.749	0.69131	783	0.47268	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1011.43	48	chr16	1434535	.	C	T	1011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=476;ExcessHet=0;FS=4.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=-0.393;SOR=1.358	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1023,0,726	9	0	1	0
chr16	1495588	1495588	T	C	exonic	TELO2	.	nonsynonymous SNV	TELO2:NM_001351846:exon3:c.T578C:p.V193A,TELO2:NM_016111:exon3:c.T578C:p.V193A	You-Hoover-Fong syndrome, Autosomal recessive	431	1062	27	2	0	31	0.0143852	.	.	.	714745	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.112	.	0.0035	0.00499201	0.0063	0.0007	0.0027	0.0001	0.0003	0.0061	0.0057	0.0194	0.0056597	875	154602	rs141647559	0.0046	0.0046	0.0040	0.0052	0.0191	0.0045	0.0044	0.0184	0.0180	0.0005	0.0027	0.0169	2.532e-05	0.0011	0.0129	0.0036	0.0050	0.0191	0.0035	0.0035	0.0032	0.0039	0.0193	0.0033	0.0032	0.0161	0.0149	0.0006	0	0.0036	0.0170	0.0004	9.411e-05	0.0510	0.0041	0.0043	0.0193	0.039	0.42487	D	0.013	0.63109	D	0.049	0.22227	B	0.015	0.17295	B	0.375640	0.13462	N	0.708276	0.999224	0.21485	N	2.2	0.62015	M	-1.85	0.84267	D	-1.65	0.39503	N	0.068	0.04072	-0.6777	0.61479	T	0.357	0.71936	T	10	0.0053475797	0.00117	T	.	.	.	0.112	0.31546	.	.	0.513280433867	0.50970	0.23863046180916195	0.23777	0.144146784678	0.16276	0.305148303509	0.11173	T	0.073178	0.34635	T	-0.420889	0.01688	T	-0.362418	0.37772	T	0.015313074487058	0.00339	T	0.393061	0.09795	T	0.037355676	0.04774	0.05269088	0.08732	0.037355676	0.04773	0.05269088	0.08731	-2.494	0.05740	T	0.2086841170818422	0.27921	0.161	0.35622	B	.	.	1.256583	0.16537	12.60	0.84911635918903006	0.15571	0.53282	0.29334	D	AEFBCI	0.158386	0.28403	N	-0.709159317435632	0.15763	0.7972947	-0.709327222228478	0.16728	0.8863125	0.999998197357522	0.74766	0.706548	0.73137	0	0.606735	0.50208	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.33	4.23	0.49319	1.493000	0.35214	1.873000	0.29400	-0.109000	0.15193	0.004000	0.16614	0.026000	0.21063	0.021000	0.11733	0.0:0.0807:0.0:0.9192	10.075	0.41526	779	0.47767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009577	0.000000	0.010870	0.005848	0.000000	0.008621	0.012195	0.015267	0.05	1123.43	82	chr16	1495588	.	T	C	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.308;DP=426;ExcessHet=0;FS=4.286;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=-0.186;SOR=1.19	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr16	1519928	1519928	C	G	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon29:c.G3993C:p.Q1331H	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	YES	342012	Saldino-Mainzer_syndrome|IFT140-related_disorder|not_specified|not_provided	MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.039	0.00752693143321	0.0018	0.00119808	0.0023	0.0003	0.0008	0	0.0007	0.0025	0.0038	0.0068	0.0022057	341	154602	rs35823417	0.0023	0.0024	0.0022	0.0025	0.0062	0.0023	0.0022	0.0057	0.0056	0.0002	0.0004	0.0049	5.053e-05	0.0010	0.0028	0.0022	0.0024	0.0062	0.0018	0.0018	0.0017	0.0018	0.0052	0.0016	0.0015	0.0036	0.0031	0.0003	0.0066	0.0005	0.0046	0	0.0009	0.0068	0.0027	0.0019	0.0052	0.148	0.24857	T	0.143	0.45961	T	0.0	0.02946	B	0.002	0.06944	B	0.066896	0.21779	N	0.497841	0.686778	0.30228	N	1.575	0.39704	L	0.98	0.42122	T	-1.24	0.31375	N	0.273	0.30914	-1.0313	0.20034	T	0.072	0.29387	T	10	0.011028826	0.00243	T	0.007527	0.19979	T	0.039	0.10176	0.396	0.42262	0.424194796918	0.42034	0.26771063134601975	0.26684	0.0652125274148	0.07282	0.32082092762	0.13546	T	0.01702	0.22775	T	-0.56915	0.00224	T	-0.588816	0.13769	T	0.00680652011326848	0.00077	T	0.779722	0.42065	T	0.08465561	0.19604	0.08424639	0.19367	0.10612093	0.25091	0.0798851	0.18023	-4.574	0.31843	T	0.16601343189898216	0.20616	0.126	0.38006	B	.;.;.	.;.;.	1.711284	0.21790	15.35	0.93911997235334244	0.23947	0.75277	0.36850	D	AEFBI	0.124043	0.23992	N	-0.269522248979812	0.30332	1.690251	-0.112300519175589	0.34894	2.012354	0.906481647171222	0.26233	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	0.438000	0.21277	3.315000	0.37496	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.232000	0.22788	0.1277:0.5707:0.3016:0.0	10.066	0.41479	814	0.42100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.002717	0.002924	0.000000	0.000000	0.003067	0.007576	0.1	1676.14	75	chr16	1519928	.	C	G	1676.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.766;DP=447;ExcessHet=0.2348;FS=0.645;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=1.35;SOR=0.809	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	8	0	2	0
chr16	1571518	1571518	A	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon14:c.T1541A:p.L514H	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	6	1481	32	3	0	38	0.0126667	.	.	YES	272286	not_specified|Saldino-Mainzer_syndrome|IFT140-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.455	.	0.0017	0.00199681	0.0043	0.0005	0.0008	0	0.0153	0.0049	0.0044	0.0046	0.0037516	580	154602	rs150903791	0.0029	0.0029	0.0029	0.0030	0.0231	0.0029	0.0028	0.0199	0.0187	0.0011	0.0010	0.0031	2.519e-05	0.0150	0.0231	0.0024	0.0030	0.0040	0.0030	0.0030	0.0022	0.0038	0.0044	0.0028	0.0027	0.0029	0.0024	0.0003	0	0.0014	0.0029	0	0.0195	0.0340	0.0025	0.0028	0.0044	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.979	0.74454	D	0.000077	0.52346	D	0.081002	0.999981	0.54805	D	2.505	0.72935	M	0.26	0.59314	T	-2.9	0.60827	D	0.597	0.61596	-0.1682	0.78472	T	0.402	0.75288	T	10	0.011529267	0.00251	T	.	.	.	0.455	0.75415	.	.	0.908992176636	0.90808	0.4920386895560723	0.49124	0.152153152439	0.17166	0.756964325905	0.75478	T	0.179384	0.53035	T	-0.291607	0.09475	T	-0.191383	0.55460	T	0.0393382414440502	0.03572	T	0.817118	0.47377	T	0.58520865	0.71892	0.6023714	0.76894	0.58520865	0.71893	0.6023714	0.76895	-10.822	0.78672	D	0.4651949327611722	0.54666	0.201	0.42520	B	.	.	4.586692	0.72512	25.8	0.98270478578074383	0.39759	0.90525	0.51773	D	AEFBI	0.496167	0.53122	N	0.771636998223519	0.84304	8.250805	0.73884982458984	0.85323	8.545912	0.891748504960808	0.25867	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.77	5.77	0.91077	5.826000	0.68980	10.948000	0.84382	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	1.0:0.0:0.0:0.0	15.749	0.77734	616	0.66398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.023162	0.005051	0.023098	0.043860	0.050000	0.025862	0.018293	0.011364	0.05	1668.43	38	chr16	1571518	.	A	T	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.771;DP=403;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.94;ReadPosRankSum=-0.591;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	9	0	1	0
chr16	1602417	1602417	C	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon4:c.G322A:p.V108M	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1492	29	1	0	31	0.0102819	.	.	.	465701	not_provided|Saldino-Mainzer_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0072	0.00279553	0.0069	0.0015	0.0018	0.0001	0.0145	0.0093	0.01	0.0049	0.0069081	1068	154602	rs146128830	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0013	0.0017	0.0049	2.519e-05	0.0136	0.0040	0.0107	0.0082	0.0056	0.0069	0.0069	0.0066	0.0072	0.0111	0.0066	0.0064	0.0104	0.0102	0.0018	0.0033	0.0023	0.0049	0.0002	0.0123	0.0136	0.0111	0.0028	0.0056	0.022	0.53172	D	0.044	0.49663	D	0.985	0.61118	D	0.79	0.57710	P	0.062786	0.22072	N	0.456706	0.993577	0.23687	N	2.47	0.71715	M	0.2	0.60111	T	-0.71	0.24898	N	0.537	0.56489	-0.7691	0.56907	T	0.201	0.55737	T	10	0.015878737	0.00333	T	.	.	.	0.240	0.54500	.	.	0.585930602222	0.58267	0.22987807429048945	0.22902	0.335070030475	0.35518	0.282918542624	0.07903	T	0.020676	0.21710	T	-0.409037	0.02017	T	-0.348006	0.39433	T	0.0188908663489933	0.00599	T	0.862614	0.55818	D	0.030687803	0.02774	0.041938186	0.04881	0.026921747	0.01812	0.040142946	0.04269	-7.027	0.54231	T	0.34450922003466256	0.44207	0.119	0.35098	B	.;.;.	.;.;.	1.786767	0.22713	15.73	0.99512493023377735	0.68739	0.04505	0.10128	N	AEFDBI	0.049178	0.08470	N	-0.392399946430757	0.25738	1.399483	-0.661203259983345	0.17934	0.9558399	0.369238672997573	0.19853	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.83	-1.19	0.09091	0.022000	0.13402	-0.003000	0.13174	0.599000	0.40250	0.005000	0.17040	0.002000	0.18203	0.003000	0.05239	0.0:0.4051:0.0:0.5949	9.800	0.39929	568	0.70638	WD40-repeat-containing domain;Anaphase-promoting complex subunit 4, WD40 domain;Anaphase-promoting complex subunit 4, WD40 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.002725	0.000000	0.000000	0.025862	0.006098	0.000000	0.05	1710.43	34	chr16	1602417	.	C	T	1710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.774;DP=469;ExcessHet=0;FS=2.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.492;SOR=0.959	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1220	9	0	1	0
chr16	1817189	1817189	C	T	exonic	HAGH	.	stopgain	HAGH:NM_001286249:exon5:c.G515A:p.W172X	.	9	1488	24	1	0	26	0.00866089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00299521	0.0037	0.0009	0.0010	0	0.0003	0.0040	0.0022	0.0101	0.0035511	549	154602	rs61729103	0.0038	0.0039	0.0036	0.0041	0.0099	0.0038	0.0037	0.0094	0.0092	0.0004	0.0014	0.0007	2.52e-05	0.0009	0.0054	0.0040	0.0028	0.0099	0.0028	0.0029	0.0029	0.0028	0.0099	0.0026	0.0025	0.0077	0.0069	0.0007	0.0208	0.0024	0.0012	0.0002	0.0010	0.0034	0.0041	0.0033	0.0099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.798	0.79406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.517765	0.00453	T	-0.508548	0.21466	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.923064	0.12983	9.486	0.97700951927249491	0.35436	0.91634	0.53938	D	AEFDBI	0.114516	0.22552	N	-0.150670226938905	0.35206	2.019274	-0.199465689945463	0.31556	1.786998	6.62357201934162E-5	0.04366	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.15	0.68	0.17146	0.428000	0.21114	0.725000	0.21043	0.598000	0.34611	0.995000	0.38783	0.999000	0.35428	0.347000	0.25591	0.2694:0.4559:0.1311:0.1436	2.252	0.03798	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	1472.43	33	chr16	1817189	.	C	T	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.431;DP=446;ExcessHet=0;FS=1.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.29;SOR=0.91	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr16	1860417	1860417	G	T	exonic	MEIOB	.	nonsynonymous SNV	MEIOB:NM_001163560:exon5:c.C318A:p.S106R,MEIOB:NM_152764:exon5:c.C318A:p.S106R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00400541123372	0.0009	0.00159744	0.0014	0	0.0048	0	0.0018	0.0027	0	0.0003	0.0004916	76	154602	rs143362679	0.0021	0.0021	0.0021	0.0021	0.0026	0.0021	0.0020	0.0024	0.0023	0.0003	0.0014	0.0011	0	0.0021	0.0026	0.0024	0.0022	7.595e-05	0.0022	0.0022	0.0024	0.0020	0.0041	0.0020	0.0019	0.0032	0.0030	0.0004	0.0439	0.0041	0.0012	0	0.0020	0	0.0028	0.0028	0	0.325	0.13349	T	0.125	0.35330	T	0.004	0.12183	B	0.006	0.12133	B	0.000109	0.50451	D	0.213183	0.575299	0.81001	D	0.805	0.20218	L	3.65	0.04267	T	-1.46	0.35792	N	0.197	0.24260	-0.9976	0.30590	T	0.007	0.02558	T	10	0.0053097606	0.00116	T	0.004005	0.09493	T	0.062	0.17934	0.246	0.18139	0.0666544352282	0.05500	0.35094414074570096	0.35008	.	.	0.3938575387	0.24211	T	0.003727	0.03130	T	-0.624759	0.00103	T	-0.674815	0.07303	T	0.0120657914584396	0.00191	T	0.782522	0.42251	T	0.12700662	0.29733	0.10727827	0.25823	0.13033628	0.30415	0.11849232	0.28602	-6.526	0.52885	T	0.15011650046521713	0.17608	0.585	0.70588	P	.;.	.;.	1.840025	0.23376	15.99	0.83735990426788431	0.14890	0.87349	0.46861	D	AEFBI	0.395357	0.47225	N	-0.438770560264945	0.24121	1.30029	-0.32277132743541	0.27365	1.51793	9.40698823076741E-5	0.04910	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	5.1	0.283	0.14947	0.477000	0.21906	2.718000	0.34289	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.3646:0.1479:0.4876:0.0	5.130	0.14235	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003797	0.000000	0.000000	0.000000	0.000000	0.000000	0.005882	0.013889	0.05	541.43	37	chr16	1860417	.	G	T	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.03;ReadPosRankSum=-0.399;SOR=0.723	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr16	1911926	1911926	G	C	exonic	HS3ST6	.	nonsynonymous SNV	HS3ST6:NM_001009606:exon2:c.C693G:p.H231Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.809	0.192072854891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.72	0.44442	L	.	.	.	.	.	.	0.904	0.90476	0.521	0.90843	D	0.696	0.89528	D	10	0.96290386	0.95723	D	0.192073	0.86222	D	0.809	0.93816	0.871	0.96372	0.753142635694	0.75090	0.6943412588482684	0.69375	.	.	0.762121975422	0.76245	T	0.417863	0.77038	T	0.245	0.78140	D	0.114293	0.77856	D	0.997383177280426	0.91430	D	.	.	.	0.8516879	0.87461	0.85520285	0.91854	0.8516879	0.87463	0.85520285	0.91854	-12.198	0.85802	D	.	.	0.831	0.78781	P	.	.	3.544907	0.49806	22.8	0.99381566304311575	0.61891	0.87705	0.47335	D	AEFBHCI	0.568349	0.57357	D	0.568115682200844	0.71191	5.613615	0.541955796673407	0.70841	5.564643	0.928403937125275	0.26927	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.84	4.84	0.62125	3.234000	0.51019	2.449000	0.32805	0.648000	0.52827	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	16.986	0.86212	623	0.65786	Sulfotransferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1749.43	78	chr16	1911926	.	G	C	1749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.669;DP=709;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.18;SOR=0.77	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	9	0	1	0
chr16	1978439	1978439	G	A	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon21:c.G2261A:p.R754Q	.	.	.	.	.	.	.	.	.	.	.	3335443	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.025252819725	.	.	6.089e-05	0	0	0.0001	0	4.747e-05	0	0.0002	4.53e-05	7	154602	rs199953677	3.156e-05	3.215e-05	2.457e-05	3.862e-05	0.0005	2.419e-05	2.164e-05	0.0001	7.57e-05	2.99e-05	0	0	0	0	0.0005	3.062e-05	1.66e-05	8.153e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	6.542e-05	5.24e-06	2.45e-06	.	.	2.413e-05	0	6.542e-05	0	0	0	0	1.471e-05	0	0	0.393	0.10730	T	0.548	0.09489	T	0.203	0.29776	B	0.026	0.20792	B	0.643692	0.10576	N	0.858749	1	0.08975	N	-0.03	0.05048	N	0.13	0.60973	T	-0.48	0.15379	N	0.135	0.13198	-1.0178	0.24431	T	0.038	0.16376	T	9	0.059767365	0.07237	T	0.025253	0.48226	D	.	.	0.557	0.67547	0.143124449307	0.13826	0.29067965646116417	0.28980	0.16639706071	0.18776	0.400834143162	0.25185	T	0.014131	0.12091	T	-0.353316	0.04522	T	-0.54074	0.18223	T	0.0357568376949674	0.02937	T	0.662834	0.27173	T	0.030007852	0.02591	0.0399477	0.04207	0.030007852	0.02590	0.0399477	0.04206	-7.084	0.54645	T	.	.	0.079	0.07365	B	.	.	0.339267	0.07128	3.708	0.86245919452421138	0.16408	0.09589	0.15311	N	AEFDBI	0.137213	0.25812	N	-1.48604200935472	0.01948	0.08552655	-1.50544124547923	0.02302	0.1056526	0.986374704576619	0.31052	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	5.13	-2.98	0.05179	-0.020000	0.12466	-0.292000	0.10184	-0.946000	0.02057	0.000000	0.06391	0.002000	0.18203	0.003000	0.05239	0.5926:0.0:0.4074:0.0	12.095	0.53050	730	0.54327	Small-subunit processome, Utp13	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1435.43	33	chr16	1978439	.	G	A	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=443;ExcessHet=0;FS=1.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.402;SOR=0.881	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1447,0,1454	9	0	1	0
chr16	2040212	2040212	C	T	exonic	NTHL1	.	nonsynonymous SNV	NTHL1:NM_001318193:exon4:c.G541A:p.A181T,NTHL1:NM_001318194:exon5:c.G382A:p.A128T,NTHL1:NM_002528:exon5:c.G712A:p.A238T	Familial adenomatous polyposis 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	643995	not_provided|NTHL1-related_disorder|Familial_adenomatous_polyposis_3|Hereditary_cancer-predisposing_syndrome	MedGen:C3661900|.|MONDO:MONDO:0014630,MedGen:C4225157,OMIM:616415,Orphanet:220460,Orphanet:454840|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.296	0.0474998369251	0.0008	0.000599042	0.0002	0.0020	0.0002	0	0	3.017e-05	0	0	0.0001811	28	154602	rs147559648	6.706e-05	6.772e-05	6.4e-05	7.015e-05	0.0015	5.63e-05	5.173e-05	0.0012	0.0011	0.0015	0.0002	0	0	0	0.0002	2.968e-05	9.936e-05	0	0.0004	0.0004	0.0004	0.0004	0.0013	0.0003	0.0003	0.0011	0.0010	0.0013	0	0.0003	0	0	0	0.0034	1.47e-05	0	0	0.55	0.06585	T	0.248	0.23845	T	0.167	0.28604	B	0.053	0.25678	B	0.000938	0.41028	N	0.278369	0.762	0.34052	D	1.355	0.33814	L	-2.21	0.86963	D	-0.76	0.21215	N	0.136	0.13341	-0.6396	0.63163	T	0.355	0.71827	T	10	0.013747215	0.00291	T	0.048	0.62947	D	0.296	0.61616	.	.	0.165133752707	0.16062	0.6653518404285238	0.66472	0.0611966656962	0.06815	0.377578556538	0.21913	T	0.289694	0.66248	T	-0.306065	0.08099	T	-0.219202	0.52814	T	0.00611318737558685	0.00067	T	0.875013	0.58582	D	0.044770338	0.07213	0.06384739	0.12709	0.044770338	0.07212	0.06384739	0.12709	-5.208	0.39023	T	0.13423978672886142	0.14482	0.092	0.13597	B	.	.	1.166586	0.15557	11.94	0.72634597587762961	0.10042	0.22660	0.21821	N	AEFDBHCIJ	0.530559	0.55120	D	-0.929338681107373	0.10160	0.4842188	-0.888205390382292	0.12372	0.6360725	0.999998993104163	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	4.45	2.05	0.25860	0.256000	0.18120	-1.133000	0.06232	-0.978000	0.01909	0.184000	0.24113	0.000000	0.08366	0.379000	0.26312	0.3004:0.439:0.0:0.2606	3.669	0.07801	675	0.60470	HhH-GPD domain|HhH-GPD domain|HhH-GPD domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1189.43	35	chr16	2040212	.	C	T	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=413;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.382;SOR=0.927	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	9	0	1	0
chr16	2062988	2062988	G	A	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon11:c.G778A:p.A260T,TSC2:NM_001318827:exon13:c.G1267A:p.A423T,TSC2:NM_001318829:exon13:c.G1231A:p.A411T,TSC2:NM_000548:exon14:c.G1378A:p.A460T,TSC2:NM_001077183:exon14:c.G1378A:p.A460T,TSC2:NM_001114382:exon14:c.G1378A:p.A460T,TSC2:NM_001318832:exon14:c.G1411A:p.A471T,TSC2:NM_001363528:exon14:c.G1378A:p.A460T,TSC2:NM_001370404:exon14:c.G1378A:p.A460T,TSC2:NM_001370405:exon14:c.G1378A:p.A460T,TSC2:NM_021055:exon14:c.G1378A:p.A460T	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	0	1509	13	0	0	13	0.00428901	.	.	YES	58822	Hereditary_cancer-predisposing_syndrome|Tuberous_sclerosis_2|Tuberous_sclerosis_syndrome|not_specified|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:CN169374|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.563	0.162465087376	0.0008	.	0.0024	0.0004	0	0	0	0.0054	0.0052	0.0001	0.0004786	74	154602	rs137854154	0.0007	0.0007	0.0007	0.0008	0.0108	0.0007	0.0007	0.0086	0.0078	3.166e-05	0.0004	0.0149	8.396e-05	0	0.0108	0.0004	0.0017	0.0001	0.0007	0.0007	0.0007	0.0008	0.0005	0.0006	0.0006	0.0004	0.0003	2.405e-05	0	0.0003	0.0161	0.0002	0	0.0442	0.0005	0.0014	0.0002	0.407	0.10245	T	0.587	0.08565	T	1.0	0.90584	D	0.997	0.86255	D	0.000544	0.43413	D	0.207417	0.99969	0.48338	D	1.645	0.42016	L	-1.35	0.80035	T	-0.43	0.19085	N	0.654	0.86085	-0.1755	0.78293	T	0.547	0.83379	D	10	0.009741873	0.00219	T	0.162465	0.84203	D	0.563	0.82118	.	.	0.812524160204	0.81076	0.16594122693251886	0.16514	.	.	0.491957485676	0.37710	T	0.328302	0.69873	T	0.0682677	0.60639	T	0.243502	0.85311	D	0.0603967384181006	0.07231	T	0.874113	0.58433	D	0.07935697	0.18124	0.07210155	0.15515	0.08406206	0.19439	0.07072015	0.15057	-5.549	0.42324	T	0.2994829771627527	0.39674	0.089	0.13127	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.493073	0.70201	25.5	0.99594259389761552	0.73807	0.94236	0.60528	D	AEFBHCI	0.792699	0.72092	D	0.402941493836061	0.61584	4.361499	0.435621694201341	0.63798	4.620965	0.999999999677212	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.292000	0.78084	8.524000	0.77433	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.133000	0.19684	0.0:0.0:1.0:0.0	18.812	0.92027	726	0.54788	Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal;.;.;Tuberin, N-terminal;.;Tuberin, N-terminal;Tuberin, N-terminal;Tuberin, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004138	0.000000	0.012346	0.006897	0.000000	0.000000	0.000000	0.000000	0.05	765.43	38	chr16	2062988	.	G	A	765.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.014;DP=387;ExcessHet=0;FS=0.95;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.423;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,906	9	0	1	0
chr16	2087923	2087923	-	CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	exonic	TSC2	.	frameshift insertion	TSC2:NM_001318831:exon35:c.4318_4319insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1446Gfs*27,TSC2:NM_001318827:exon36:c.4741_4742insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1587Gfs*27,TSC2:NM_001318829:exon36:c.4705_4706insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1575Gfs*27,TSC2:NM_001077183:exon37:c.4849_4850insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1623Gfs*27,TSC2:NM_001318832:exon37:c.4882_4883insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1634Gfs*27,TSC2:NM_001363528:exon37:c.4852_4853insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1624Gfs*27,TSC2:NM_001114382:exon38:c.4981_4982insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1667Gfs*27,TSC2:NM_001370404:exon38:c.4918_4919insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1646Gfs*27,TSC2:NM_001370405:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_021055:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_000548:exon39:c.5050_5051insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1690Gfs*27	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	59024	Tuberous_sclerosis_2|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II|not_provided|Tuberous_sclerosis_syndrome	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MedGen:C3661900|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0019	0.0018	0.0022	0.0004	0	0.0023	0.0004	0.0003	0.0001	0.0004	0.0009	0.0010	0.0013	0.0010	0.0010	0.0026	0.0008	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0012	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	695.39	36	chr16	2087923	.	T	TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	695.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.305;DP=414;ExcessHet=0;FS=5.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.029;SOR=0.163	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr16	2099895	2099895	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon29:c.G9889A:p.V3297M,PKD1:NM_001009944:exon29:c.G9889A:p.V3297M	Polycystic kidney disease, adult type I, Autosomal dominant	57	1457	6	2	0	10	0.00341997	.	.	YES	793585	PKD1-related_disorder|not_provided|not_specified|Polycystic_kidney_disease,_adult_type	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.722	0.724504472928	.	.	0.0002	0	0	0	0	0.0001	0	0.0004	6.47e-05	10	154602	rs775497330	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	0.0001	0.0010	0.0007	3.088e-05	0.0002	0	0	2.036e-05	0.0020	6.521e-05	0.0006	0.0007	9.197e-05	9.193e-05	2.569e-05	0.0002	0.0002	5.527e-05	4.364e-05	2.846e-05	1.858e-05	7.236e-05	0	0.0001	0.0003	0	0	0	7.35e-05	0.0010	0.0002	0.011	0.55530	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.97372	D	0.000312	0.45977	D	0.143609	0.996838	0.43448	D	0.835	0.21042	L	1.93	0.22881	T	0.24	0.04776	N	0.729	0.73015	-1.0504	0.14285	T	0.086	0.33298	T	10	0.74334395	0.75113	D	0.724504	0.97776	D	0.722	0.90191	0.467	0.53891	0.629626237659	0.62660	0.3905479971090743	0.38969	.	.	0.465557068586	0.34072	T	0.146281	0.48380	T	-0.32309	0.06648	T	-0.343292	0.39971	T	0.0597434812006019	0.07128	T	0.820318	0.47908	T	0.05384064	0.10247	0.06562255	0.13325	0.057556137	0.11469	0.062111028	0.12100	-4.072	0.24876	T	0.12194889120446728	0.11630	0.130	0.28027	B	.;.	.;.	2.925661	0.38855	20.8	0.99374468446223174	0.61585	0.87419	0.46953	D	AEFBI	0.321792	0.42448	N	0.148902148646418	0.48761	3.084368	0.131516588069759	0.46169	2.867399	0.0423775091082877	0.14524	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	1.838000	0.38851	0.503000	0.19012	-0.183000	0.09960	0.929000	0.32243	0.059000	0.21998	0.005000	0.06747	0.0:1.0:0.0:0.0	17.809	0.88520	740	0.53092	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004566	0.000000	0.004132	0.000000	0.000000	0.000000	0.003546	0.016260	0.05	1262.43	33	chr16	2099895	.	C	T	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.699;DP=428;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.49;MQRankSum=-0.801;QD=11.07;ReadPosRankSum=2.59;SOR=0.523	GT:AD:DP:GQ:PL	0/1:60,54:114:99:1274,0,1568	9	0	1	0
chr16	2109711	2109711	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.C5456T:p.A1819V,PKD1:NM_001009944:exon15:c.C5456T:p.A1819V	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.148386793837	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219400725	1.381e-06	2.052e-06	2.744e-06	0	1.806e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.806e-06	0	0	6.568e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.021	0.58089	D	0.633	0.42206	P	0.403	0.44588	B	0.003378	0.35041	N	0.304363	1	0.08975	N	2.3	0.65703	M	0.16	0.60610	T	-1.36	0.33798	N	0.231	0.26957	-0.9208	0.45445	T	0.170	0.51003	T	10	0.41965383	0.56777	T	0.148387	0.83031	D	0.217	0.51112	0.544	0.65731	0.865393628664	0.86408	0.312230030919002	0.31136	.	.	0.471536934376	0.34892	T	0.205817	0.56498	T	-0.100924	0.36271	T	-0.382747	0.35401	T	0.27822932600975	0.24097	T	0.671133	0.27986	T	0.09915675	0.23397	0.06443914	0.12916	0.09915675	0.23397	0.06443914	0.12916	-3.001	0.10213	T	0.09999353758619864	0.07328	0.088	0.11461	B	.;.	.;.	1.320778	0.17251	13.05	0.991675302171106	0.54298	0.86434	0.45713	D	AEFBI	0.574457	0.57724	D	-0.215074265946172	0.32515	1.834527	-0.317073500186519	0.27548	1.529333	0.00398788143250928	0.10368	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.71	1.68	0.23219	5.352000	0.65795	4.394000	0.43224	0.672000	0.70159	0.958000	0.33488	0.902000	0.27988	0.001000	0.02609	0.2286:0.0:0.7714:0.0	9.574	0.38610	654	0.62520	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1275.43	34	chr16	2109711	.	G	A	1275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.656;DP=400;ExcessHet=0;FS=1.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.78;MQRankSum=-5.371;QD=16.14;ReadPosRankSum=0.795;SOR=0.465	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1287,0,1011	9	0	1	0
chr16	2110903	2110903	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4264A:p.A1422T,PKD1:NM_001009944:exon15:c.G4264A:p.A1422T	Polycystic kidney disease, adult type I, Autosomal dominant	0	1459	63	0	0	63	0.0211338	.	.	YES	255621	Polycystic_kidney_disease,_adult_type|not_specified|Polycystic_kidney_disease|PKD1-related_disorder|Autosomal_dominant_polycystic_kidney_disease|not_provided	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|.|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	0.0062	0.00439297	0.0060	0.0010	0.0039	0	0.0011	0.0087	0.0114	0.0046	0.0052587	813	154602	rs140980374	0.0055	0.0055	0.0055	0.0055	0.0489	0.0054	0.0053	0.0438	0.0418	0.0018	0.0039	0.0313	0	0.0015	0.0489	0.0052	0.0080	0.0043	0.0050	0.0050	0.0051	0.0048	0.0066	0.0047	0.0046	0.0056	0.0055	0.0011	0	0.0066	0.0343	0.0002	0.0011	0.0476	0.0061	0.0109	0.0052	0.408	0.10212	T	0.469	0.12281	T	0.083	0.24734	B	0.016	0.17743	B	0.050289	0.02010	N	1.849850	1	0.08975	N	0.09	0.08384	N	0.2	0.60111	T	0.14	0.07299	N	0.085	0.10056	-1.0837	0.06646	T	0.063	0.26101	T	10	0.004206896	0.00084	T	.	.	.	0.018	0.03083	.	.	0.554512861526	0.55110	0.1595016433388556	0.15871	.	.	0.313498318195	0.12435	T	0.14814	0.48654	T	-0.574826	0.00207	T	-0.588086	0.13831	T	0.000983470398017093	0.00009	T	0.241376	0.03476	T	0.026695253	0.01759	0.039109476	0.03930	0.024509832	0.01289	0.03141386	0.01727	-4.259	0.27598	T	.	.	0.068	0.02765	B	.;.	.;.	-0.537291	0.01752	0.132	0.5816343026315014	0.05931	0.08769	0.14649	N	AEFDBI	0.101493	0.20382	N	-1.57943668556335	0.01370	0.05972494	-1.60320823478749	0.01636	0.0742432	6.34175795696538E-4	0.07505	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.77	-1.84	0.07387	-0.060000	0.11669	-3.211000	0.02967	-1.044000	0.01656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1824:0.3674:0.0:0.4502	3.443	0.07038	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.040541	0.012346	0.061644	0.068376	0.166667	0.051724	0.010204	0.012000	0.05	2489.43	34	chr16	2110903	.	C	T	2489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=623;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.76;MQRankSum=0.937;QD=15.18;ReadPosRankSum=-0.084;SOR=0.684	GT:AD:DP:GQ:PL	0/1:67,97:164:99:2501,0,1440	9	0	1	0
chr16	2110952	2110952	C	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4215T:p.W1405C,PKD1:NM_001009944:exon15:c.G4215T:p.W1405C	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.884642924269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.177	0.22224	T	0.014	0.62352	D	0.99	0.63424	D	0.932	0.66722	D	0.047033	0.23382	N	0.431306	0.99987	0.50225	D	2.56	0.74772	M	0.04	0.62051	T	-2.39	0.53736	N	0.535	0.56317	-0.5142	0.68132	T	0.323	0.69203	T	10	0.83969843	0.83124	D	0.884643	0.99123	D	0.383	0.70029	0.583	0.70990	0.879645761722	0.87847	0.5873094326380622	0.58660	.	.	0.44514593482	0.31281	T	0.384454	0.74607	T	-0.0191068	0.48980	T	-0.265222	0.48302	T	0.84954959154129	0.50126	D	0.833117	0.50161	T	0.18850547	0.40352	0.1145801	0.27658	0.18850547	0.40351	0.1145801	0.27657	-7.771	0.59499	D	0.2630452667026752	0.35492	0.478	0.63566	A	.;.	.;.	2.887356	0.38231	20.7	0.90992644276553036	0.20242	0.84004	0.43091	D	AEFBI	0.295865	0.40586	N	0.409682435141623	0.61953	4.40373	0.345952602632838	0.58265	3.995991	9.79808752519793E-4	0.08079	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.58	4.61	0.56724	1.682000	0.37245	3.447000	0.38420	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.1194:0.6378:0.1626:0.0801	6.146	0.19499	650	0.62973	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2103.43	34	chr16	2110952	.	C	A	2103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.35;DP=601;ExcessHet=0;FS=1.323;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.47;MQRankSum=-0.818;QD=14.92;ReadPosRankSum=1.5;SOR=0.82	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr16	2110993	2110993	C	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4174T:p.V1392L,PKD1:NM_001009944:exon15:c.G4174T:p.V1392L	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.583427951203	.	.	8.521e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs747142029	2.743e-06	2.736e-06	1.365e-06	4.135e-06	3.482e-05	6.4e-07	4.3e-07	9.25e-06	4.56e-06	0	0	0	0	0	0	8.995e-07	0	3.482e-05	1.314e-05	1.313e-05	2.568e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.034	0.44029	D	0.073	0.43159	T	0.151	0.28027	B	0.168	0.35187	B	0.000291	0.46274	D	0.139228	0.785652	0.34322	D	1.76	0.45711	L	0.17	0.60485	T	-1.27	0.33998	N	0.398	0.43899	-0.6877	0.61015	T	0.174	0.51801	T	10	0.36305633	0.52885	T	0.583428	0.96275	D	0.114	0.32008	0.598	0.72862	0.591557572705	0.58832	0.4169896915269001	0.41614	.	.	0.508233308792	0.39975	T	0.241587	0.61015	T	-0.24691	0.14480	T	-0.389791	0.34577	T	0.0978625518493648	0.12120	T	0.721228	0.33447	T	0.09359943	0.21986	0.120388225	0.29054	0.09359943	0.21986	0.120388225	0.29053	-3.911	0.22467	T	0.07986025611752251	0.03973	0.163	0.35890	B	.;.	.;.	1.753400	0.22303	15.57	0.91051901054218476	0.20303	0.80111	0.39837	D	AEFBI	0.212186	0.33790	N	-0.470701581882112	0.23043	1.234743	-0.372568078217979	0.25819	1.422184	0.00299971995473177	0.09855	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.58	3.51	0.39297	1.613000	0.36512	2.678000	0.33996	-0.206000	0.08541	0.993000	0.37899	0.993000	0.31925	0.032000	0.13371	0.0:0.7424:0.2576:0.0	15.762	0.77856	650	0.62973	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1965.43	34	chr16	2110993	.	C	A	1965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.799;DP=594;ExcessHet=0;FS=0.603;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.52;MQRankSum=2.07;QD=12.76;ReadPosRankSum=0.293;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr16	2115565	2115565	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon10:c.C1910T:p.A637V,PKD1:NM_001009944:exon10:c.C1910T:p.A637V	Polycystic kidney disease, adult type I, Autosomal dominant	511	978	33	0	0	33	0.0165913	.	.	.	1867778	Polycystic_kidney_disease,_adult_type	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.0534633280181	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1324355778	4.171e-06	0.0001	6.913e-06	1.398e-06	1.819e-06	1.5e-06	9.9e-07	3e-07	1.1e-07	0	0	3.886e-05	0	5.971e-05	0	1.819e-06	0	0	2.655e-05	0.0003	1.297e-05	4.08e-05	0.0002	8.2e-06	5.18e-06	.	.	2.445e-05	0	6.594e-05	0	0	0	0	1.484e-05	0	0.0002	0.546	0.06669	T	1.0	0.01155	T	0.007	0.14184	B	0.004	0.12133	B	0.431197	0.12746	N	0.741456	1	0.08975	N	0.64	0.16041	N	1.3	0.35590	T	-0.32	0.12283	N	0.066	0.03841	-0.9771	0.35660	T	0.051	0.21883	T	10	0.047445476	0.04062	T	0.053463	0.65479	D	0.013	0.01715	0.209	0.12639	0.340919117937	0.33698	0.20406219076281423	0.20323	.	.	0.288482248783	0.08702	T	0.152567	0.49302	T	-0.323373	0.06626	T	-0.702279	0.05702	T	0.0417249462178994	0.04004	T	0.339066	0.07293	T	0.018118778	0.00334	0.028770795	0.01144	0.018118778	0.00334	0.028770795	0.01144	-4.194	0.26665	T	0.1049183383087965	0.08259	0.076	0.05845	B	.;.	.;.	-0.438832	0.02071	0.191	0.74349038070323958	0.10662	0.01644	0.05287	N	AEFBI	0.049109	0.08451	N	-1.78608120196869	0.00580	0.02499262	-1.83827809865499	0.00644	0.02863882	0.348052764701403	0.19653	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.9	-3.83	0.03988	-0.439000	0.06967	0.727000	0.21057	-1.633000	0.00850	0.000000	0.06391	0.003000	0.18671	0.000000	0.00833	0.434:0.0934:0.4726:0.0	9.138	0.36047	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	54.67	39	chr16	2115565	.	G	A	54.67	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=571;ExcessHet=0;FS=22.421;InbreedingCoeff=-0.0686;MLEAC=1;MLEAF=0.05;MQ=51.81;MQRankSum=-5.38;QD=0.64;ReadPosRankSum=-2.531;SOR=4.339	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1143	9	0	1	0
chr16	2119356	2119356	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon2:c.C238T:p.R80W,PKD1:NM_001009944:exon2:c.C238T:p.R80W	Polycystic kidney disease, adult type I, Autosomal dominant	545	969	8	0	0	8	0.004111	.	.	YES	577534	not_provided|PKD1-related_disorder|Polycystic_kidney_disease	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.120	.	.	0.00219649	0.0075	0	0	0	0	0	0	0.0121	0.0006921	107	154602	rs551353498	0.0005	0.0005	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	9.95e-05	2.807e-05	4.037e-05	5.652e-05	0	0.0010	3.939e-05	0.0007	0.0078	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0002	0.0039	0.0034	2.405e-05	0	0.0001	0	0	0	0	7.35e-05	0.0005	0.0056	0.015	0.52492	D	0.012	0.63918	D	0.9	0.73220	P	0.091	0.55321	B	0.199432	0.03309	N	1.587640	0.999614	0.20864	N	1.58	0.39772	L	0.26	0.59314	T	-1.81	0.42575	N	0.193	0.21188	-0.8608	0.51205	T	0.248	0.61774	T	10	0.0040474236	0.00079	T	.	.	.	0.120	0.33359	0.512	0.61000	0.644203187842	0.64126	0.46324754649053035	0.46243	.	.	0.451600849628	0.32163	T	0.214	0.57610	T	-0.43056	0.01471	T	-0.38357	0.35305	T	0.060400952942826	0.07232	T	0.823318	0.48387	T	0.088110246	0.20543	0.085825704	0.19842	0.09365176	0.22001	0.08501236	0.19598	-5.776	0.44365	T	0.1541497049771006	0.18388	0.087	0.11317	B	.;.	.;.	3.002038	0.40112	21.1	0.99866667057876324	0.94457	0.23783	0.22187	N	AEFBI	0.174533	0.30167	N	0.0103354221585962	0.42325	2.548011	-0.0823472277313929	0.36119	2.098032	0.938425350888014	0.27342	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.27	3.23	0.36150	1.406000	0.34254	5.270000	0.48149	0.660000	0.55035	0.052000	0.21487	0.994000	0.32194	0.120000	0.19168	0.1125:0.0:0.6076:0.2799	4.794	0.12630	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	879.43	35	chr16	2119356	.	G	A	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.604;DP=375;ExcessHet=0;FS=11.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.89;MQRankSum=-0.941;QD=17.59;ReadPosRankSum=2.89;SOR=0.057	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr16	2179616	2179616	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C3752T:p.P1251L	.	423	1088	11	0	0	11	0.00502972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396	.	0.0043	0.00299521	0.0223	0.0048	0.0073	0	0.0641	0.0297	0	0.035	0.0033247	514	154602	rs201211065	0.0082	0.0077	0.0084	0.0079	0.0092	0.0080	0.0080	0.0091	0.0090	0.0010	0.0013	0.0006	0	0.0078	0.0030	0.0092	0.0061	0.0050	0.0048	0.0048	0.0051	0.0045	0.0078	0.0045	0.0044	0.0073	0.0071	0.0016	0.0011	0.0020	0.0012	0	0.0075	0	0.0078	0.0014	0.0035	0.001	0.78490	D	0.016	0.60972	D	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.81001	D	2.25	0.63811	M	0.23	0.59717	T	-4.11	0.74980	D	0.506	0.53796	-0.5923	0.65128	T	0.223	0.58678	T	9	0.008794069	0.00199	T	.	.	.	0.396	0.71084	.	.	0.719674194334	0.71720	0.1309779199915567	0.13022	0.978654125277	0.73649	0.809084296227	0.83352	D	0.122975	0.44702	T	-0.35826	0.04229	T	-0.275715	0.47241	T	0.0228644197563702	0.01008	T	0.861714	0.55578	D	0.2658684	0.49657	0.26620787	0.52463	0.2658684	0.49656	0.26620787	0.52463	-3.902	0.22333	T	.	.	0.103	0.18497	B	.	.	5.044760	0.83989	28.2	0.99796499765478697	0.88194	0.94804	0.62386	D	AEFBI	0.654735	0.62732	D	0.524517995812425	0.68544	5.231846	0.458619277844003	0.65274	4.802945	0.994406536393526	0.33622	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.46	3.46	0.38718	5.879000	0.69436	9.581000	0.81029	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1121:0.0:0.8878:0.0	8.189	0.30518	645	0.63593	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003646	0.000000	0.002778	0.000000	0.000000	0.008772	0.000000	0.007812	0.05	491.43	43	chr16	2179616	.	G	A	491.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.718;DP=341;ExcessHet=0;FS=1.177;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.841;SOR=0.829	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,836	9	0	1	0
chr16	2180264	2180264	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C3104T:p.P1035L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.219163700293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.131e-06	2.736e-06	1.404e-06	2.873e-06	3.722e-05	5.7e-07	1.6e-07	9.89e-06	4.74e-06	0	0	0	0	0	0	0	0	3.722e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.238	0.24549	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.998209	0.44627	D	1.87	0.49600	L	-0.23	0.66652	T	-3.1	0.63554	D	0.391	0.43223	-0.1570	0.78745	T	0.406	0.75593	T	9	0.29634565	0.47199	T	0.219164	0.87694	D	0.183	0.45592	0.183	0.09131	0.658331301186	0.65547	0.1446118638067827	0.14384	0.978654125277	0.73649	0.793171048164	0.80925	T	0.023074	0.17679	T	-0.0174708	0.49214	T	-0.262872	0.48536	T	0.873186469078064	0.52305	D	0.848415	0.52967	T	0.12837775	0.30016	0.26032358	0.51794	0.12837775	0.30015	0.26032358	0.51793	-5.944	0.45808	T	.	.	0.101	0.17700	B	.	.	4.052070	0.60070	24.2	0.99799497354205657	0.88461	0.92383	0.55584	D	AEFDBI	0.498427	0.53253	N	0.405371617585951	0.61718	4.37663	0.323754173379085	0.56940	3.85816	0.635250291660763	0.22004	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.33	3.33	0.37245	3.393000	0.52286	5.723000	0.49481	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	13.725	0.62236	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	373.43	34	chr16	2180264	.	G	A	373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=322;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.979;SOR=0.527	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	9	0	1	0
chr16	2180810	2180810	G	C	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C2558G:p.P853R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.13010257827	.	0.000399361	0.0058	0.0076	0.0078	0	0	0.0072	0	0	0.0004981	77	154602	rs577114353	0.0012	0.0011	0.0011	0.0012	0.0021	0.0011	0.0011	0.0018	0.0017	0.0002	0.0001	0	0	0.0003	0	0.0013	0.0008	0.0021	0.0009	0.0009	0.0009	0.0009	0.0031	0.0008	0.0007	0.0019	0.0015	0.0003	0	0	0	0.0002	9.411e-05	0	0.0016	0.0005	0.0031	0.055	0.38407	T	0.027	0.55341	D	0.93	0.51791	P	0.368	0.43478	B	.	.	.	.	1	0.08975	N	0.6	0.15550	N	-0.25	0.67011	T	-2.68	0.57275	D	0.34	0.38129	-0.9303	0.44095	T	0.164	0.50111	T	9	0.00915426	0.00207	T	0.130103	0.81223	D	0.085	0.24743	.	.	0.627131829	0.62409	0.09395887302591188	0.09327	0.447694606286	0.44630	0.70604544878	0.68020	T	0.123455	0.44783	T	-0.437193	0.01343	T	-0.406632	0.32614	T	0.0566786183315595	0.06636	T	0.662434	0.27137	T	0.08255443	0.19022	0.10671114	0.25676	0.08255443	0.19022	0.10671114	0.25675	-5.418	0.41092	T	.	.	0.105	0.19438	B	.	.	1.550498	0.19873	14.48	0.69846067440724524	0.09103	0.13929	0.18130	N	AEFBCI	0.118335	0.23143	N	-0.413561069388986	0.24993	1.353517	-0.552837168037912	0.20731	1.118239	0.0195124721877883	0.13169	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	3.14	3.14	0.35196	3.057000	0.49624	4.183000	0.42351	0.654000	0.53741	0.832000	0.30162	1.000000	0.68203	0.073000	0.16832	0.2632:0.0:0.7368:0.0	4.962	0.13421	650	0.62973	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	927.43	34	chr16	2180810	.	G	C	927.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.927;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.86;ReadPosRankSum=-0.027;SOR=0.752	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1086	9	0	1	0
chr16	2464630	2464630	C	T	exonic	TEDC2	.	nonsynonymous SNV	TEDC2:NM_025108:exon10:c.C1264T:p.R422C	.	409	1076	34	3	0	40	0.0182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0054	0.00519169	0.0088	0.0014	0.0028	0	0.0239	0.0100	0.0060	0.0119	0.0079688	1232	154602	rs72768723	0.0071	0.0071	0.0069	0.0073	0.0161	0.0070	0.0070	0.0135	0.0125	0.0014	0.0032	0.0080	0	0.0193	0.0161	0.0068	0.0081	0.0101	0.0059	0.0059	0.0052	0.0066	0.0073	0.0056	0.0055	0.0061	0.0059	0.0013	0	0.0057	0.0104	0.0002	0.0202	0.0137	0.0066	0.0080	0.0073	0.003	0.68238	D	0.001	0.83351	D	0.049	0.22227	B	0.008	0.13708	B	0.464993	0.12346	N	0.722332	1	0.08975	N	.	.	.	0.71	0.51228	T	-4.08	0.74742	D	0.221	0.24758	-0.9751	0.36104	T	0.074	0.29739	T	10	0.0042487085	0.00085	T	.	.	.	0.040	0.10527	.	.	0.582293646009	0.57902	0.29318303773211113	0.29231	0.553608707389	0.52127	.	.	.	0.077173	0.35591	T	-0.479382	0.00745	T	-0.451981	0.27477	T	0.0354814574228661	0.02890	T	0.784022	0.42156	T	0.28052235	0.51099	0.16465454	0.38132	0.28052235	0.51098	0.16465454	0.38131	-5.717	0.43845	T	.	.	0.158	0.35204	B	.;.	.;.	2.178234	0.27765	17.57	0.99691153425546586	0.79977	0.10164	0.15745	N	AEFDGBHCI	0.120056	0.23405	N	-0.800832403474442	0.13289	0.6535961	-0.876775266829197	0.12646	0.6516711	0.999789446195623	0.43007	0.634777	0.41761	0	0.606735	0.50208	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.44	1.15	0.19876	0.159000	0.16258	-0.008000	0.13101	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.045000	0.14751	0.1996:0.5832:0.0:0.2172	3.475	0.07147	709	0.56835	.;.	.	.	.	.	rs72768723	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012097	0.010204	0.009537	0.005848	0.000000	0.017241	0.024390	0.026515	0.1	1019.14	68	chr16	2464630	.	C	T	1019.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.57;DP=416;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=0.758;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1027	8	0	2	0
chr16	2530684	2530684	T	G	exonic	AMDHD2;CEMP1	.	nonsynonymous SNV	AMDHD2:NM_001145815:exon11:c.T1710G:p.D570E	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00705527406933	0.0005	.	0.0003	0.0001	0.0003	0	0	0.0005	0	0.0001	0.0003428	53	154602	rs200546798	0.0006	0.0006	0.0006	0.0005	0.0007	0.0005	0.0005	0.0006	0.0006	0.0001	0.0003	0	0	7.497e-05	0.0002	0.0007	0.0010	9.275e-05	0.0003	0.0003	0.0004	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0001	0	0	9.423e-05	0	0.0006	0	0	0.0	0.91255	D	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.01	0.07155	N	0.101	0.08366	-1.0157	0.25110	T	0.064	0.26456	T	7	0.023994029	0.00645	T	0.007055	0.18676	T	0.034	0.08419	0.175	0.08135	0.1749357433	0.17121	0.009634628841564331	0.00925	0.00420445280622	0.00371	0.302809298038	0.10821	T	.	.	.	-0.623531	0.00105	T	-0.742549	0.03784	T	0.00574736856896606	0.00063	T	0.19558	0.02146	T	.	.	.	.	.	.	.	.	-2.716	0.07438	T	.	.	0.098	0.16099	B	.	.	-0.107285	0.03600	0.705	0.47355509382007549	0.03865	0.03378	0.08480	N	AEFBCI	.	.	.	-1.43877813674111	0.02306	0.1016876	-1.57962143374074	0.01780	0.081014	0.999996785225001	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	1.96	-2.88	0.05342	-0.335000	0.07917	-1.085000	0.06377	-0.814000	0.03034	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2803:0.2169:0.5028	3.424	0.06974	759	0.50631	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1634.43	36	chr16	2530684	.	T	G	1634.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=440;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=2.13;SOR=0.459	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1183	9	0	1	0
chr16	2760426	2760426	G	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon10:c.G959T:p.R320L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00681108740823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.63918	T	0.039	0.21116	B	0.012	0.16012	B	0.215212	0.16269	N	0.553031	0.995925	0.23164	N	0.695	0.17993	N	1.74	0.32958	T	-3.01	0.62518	D	0.294	0.36884	-1.0280	0.21103	T	0.032	0.13723	T	10	0.11231384	0.21062	T	0.006811	0.18010	T	0.024	0.04979	0.323	0.30387	0.28722502521	0.28325	0.19099593030126918	0.19017	.	.	0.212344497442	0.00915	T	0.474137	0.80571	T	-0.236502	0.15798	T	-0.577495	0.14770	T	0.215015485882759	0.21212	T	0.791621	0.65830	T	0.2968249	0.52618	0.1742775	0.39813	0.2968249	0.52618	0.1742775	0.39812	-4.834	0.34985	T	.	.	0.099	0.16538	B	.;.;.;.;.;.	.;.;.;.;.;.	1.313350	0.17168	13.00	0.98100578027223229	0.38270	0.55786	0.29952	D	AEFDBCI	0.171002	0.29794	N	-0.784166559855904	0.13722	0.6780635	-0.688331766740628	0.17251	0.9164924	0.999950319922952	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	-0.95	0.09844	0.181000	0.16691	0.818000	0.21820	-0.244000	0.07312	0.978000	0.35038	0.894000	0.27871	0.114000	0.18915	0.5955:0.0:0.4045:0.0	8.691	0.33426	799	0.44747	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2353.43	37	chr16	2760426	.	G	T	2353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=499;ExcessHet=0;FS=7.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0;SOR=0.777	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1201	9	0	1	0
chr16	2770683	2770683	C	T	exonic	SRRM2	.	nonsynonymous SNV	SRRM2:NM_016333:exon14:c.C8215T:p.P2739S	.	430	996	89	7	0	103	0.0491647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	.	0.0023	0.00958466	0.0188	0.0018	0.0151	0	0	0.0053	0.025	0.0420	0.0049482	765	154602	rs138495768	0.0047	0.0047	0.0036	0.0058	0.0438	0.0046	0.0046	0.0394	0.0377	0.0007	0.0026	0.0042	2.763e-05	0.0001	0.0438	0.0025	0.0065	0.0388	0.0035	0.0035	0.0029	0.0041	0.0344	0.0032	0.0031	0.0301	0.0285	0.0006	0	0.0060	0.0026	0.0002	0	0.0306	0.0031	0.0066	0.0344	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000011	0.62929	D	0.000000	0.720634	0.33614	D	0.55	0.14455	N	0.33	0.58323	T	-1.53	0.37178	N	0.386	0.42737	-0.4492	0.70427	T	0.192	0.54389	T	10	0.007466644	0.00170	T	.	.	.	0.190	0.46781	.	.	0.595214673487	0.59199	0.12494821746765934	0.12420	.	.	0.456650614738	0.32852	T	0.215958	0.57798	T	-0.330918	0.06043	T	-0.219549	0.52781	T	0.0301538723058847	0.02013	T	0.748625	0.36937	T	0.36156985	0.57956	0.40821308	0.65145	0.36156985	0.57956	0.40821308	0.65145	-4.674	0.33088	T	.	.	0.131	0.28174	B	.	.	3.829761	0.55346	23.6	0.947188900019729	0.25389	0.82683	0.41877	D	AEFDGBHCI	0.632421	0.61304	D	0.504954797921864	0.67383	5.074224	0.538789430895942	0.70620	5.532223	0.999999999999159	0.74766	0.675202	0.55065	0	0.697927	0.68747	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	5.65	5.65	0.86881	2.149000	0.41869	7.631000	0.62734	0.599000	0.40250	0.908000	0.31627	1.000000	0.68203	0.887000	0.42601	0.0:1.0:0.0:0.0	15.222	0.73011	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032753	0.005263	0.027624	0.044643	0.000000	0.051724	0.040625	0.046154	0.1	2362.12	35	chr16	2770683	.	C	T	2362.12	.	AC=2;AF=0.1;AN=20;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.16;SOR=0.718	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1479	9	1	0	0
chr16	2771486	2771486	G	A	exonic	ELOB	.	nonsynonymous SNV	ELOB:NM_207013:exon5:c.C472T:p.R158C	.	0	225	1	0	0	1	0.00221729	.	.	.	3248660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00118572737235	0.0005	0.000199681	0.0002	0.0010	8.637e-05	0	0	0.0001	0	0	0.0001294	20	154602	rs185064686	5.472e-05	5.472e-05	5.853e-05	5.088e-05	0.0007	4.477e-05	4.147e-05	0.0004	0.0004	0.0007	0	0	2.519e-05	0	0.0005	4.047e-05	0.0001	0	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	6.532e-05	0	0.0002	0	0	5.879e-05	0	0.0004	0.009	0.57480	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.11	0.08653	N	0.135	0.13198	-1.0494	0.14565	T	0.039	0.16806	T	8	0.015712589	0.00330	T	0.001186	0.01509	T	0.033	0.08068	.	.	0.43126412278	0.42743	0.11519685156694955	0.11447	0.289996122926	0.31404	0.210932984948	0.00852	T	.	.	.	-0.540556	0.00332	T	-0.625953	0.10723	T	0.0192816139550935	0.00634	T	0.49705	0.15447	T	.	.	.	.	.	.	.	.	-3.631	0.18306	T	.	.	0.110	0.21353	B	.	.	0.411213	0.07823	4.514	0.80116847041822736	0.13052	0.14918	0.18652	N	AEFDGBCI	0.063971	0.12395	N	-1.45611208034775	0.02169	0.09548454	-1.57002755470778	0.01841	0.08390163	0.999999962097885	0.74766	0.67177	0.52595	0	0.552637	0.17590	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	1.47	-2.94	0.05245	0.159000	0.16258	1.107000	0.24123	-0.176000	0.10722	0.000000	0.06391	0.088000	0.22492	0.014000	0.10232	0.1653:0.5949:0.2398:0.0	5.784	0.17585	764	0.49969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1243.43	35	chr16	2771486	.	G	A	1243.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=442;ExcessHet=0;FS=3.253;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=-0.326;SOR=0.988	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	9	0	1	0
chr16	2933538	2933538	A	G	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon5:c.A1205G:p.Q402R,FLYWCH1:NM_020912:exon5:c.A1202G:p.Q401R,FLYWCH1:NM_032296:exon5:c.A1202G:p.Q401R	.	414	1103	4	1	0	6	0.00271248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00465213204227	0.0006	0.000399361	0.0012	0.0001	9.258e-05	0.0001	0.0004	0.0017	0.0026	0.0014	0.001009	156	154602	rs199772403	0.0010	0.0010	0.0010	0.0011	0.0030	0.0010	0.0010	0.0019	0.0015	0.0002	0.0003	0.0060	7.573e-05	0.0004	0.0030	0.0010	0.0011	0.0011	0.0009	0.0009	0.0010	0.0008	0.0021	0.0008	0.0007	0.0011	0.0009	0.0003	0	6.531e-05	0.0063	0	0.0004	0.0034	0.0012	0.0014	0.0021	0.239	0.17761	T	0.146	0.33000	T	0.054	0.30888	B	0.006	0.26451	B	.	.	.	.	0.999819	0.20249	N	1.935	0.51832	L	.	.	.	-1.03	0.27052	N	0.3	0.33904	-1.0732	0.08724	T	0.047	0.19958	T	8	0.0095255375	0.00215	T	0.004652	0.11534	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.28624064612812355	0.28537	.	.	0.372117161751	0.21135	T	0.011361	0.10143	T	-0.495811	0.00604	T	-0.530526	0.19234	T	0.0173618824402728	0.00475	T	0.390461	0.09684	T	0.021661319	0.00780	0.03994408	0.04203	0.021661319	0.00780	0.03994408	0.04203	-4.034	0.24311	T	.	.	0.077	0.06479	B	.;.	.;.	0.440021	0.08101	4.830	0.62950412539720701	0.07095	0.08896	0.14755	N	AEFDBI	0.066948	0.13137	N	-0.750563989585521	0.14617	0.7296731	-0.743219928541112	0.15888	0.8379034	0.0774458580637721	0.15759	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	3.2	0.35826	0.087000	0.14801	0.367000	0.17636	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.8805:0.0:0.1195:0.0	5.674	0.17010	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	1547.14	59	chr16	2933538	.	A	G	1547.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.988;DP=408;ExcessHet=0.2348;FS=0.721;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.357;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	8	0	2	0
chr16	2937288	2937288	G	A	exonic	FLYWCH1	.	nonsynonymous SNV	FLYWCH1:NM_001308068:exon7:c.G1681A:p.V561I,FLYWCH1:NM_020912:exon7:c.G1678A:p.V560I,FLYWCH1:NM_032296:exon7:c.G1678A:p.V560I	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	0.0025	0.000399361	0.0036	0.0011	0.0014	0	0.0158	0.0049	0.0018	0.0002	0.0025679	397	154602	rs117763371	0.0032	0.0031	0.0032	0.0031	0.0036	0.0031	0.0030	0.0035	0.0035	0.0005	0.0007	0.0002	0	0.0076	0.0004	0.0036	0.0020	0.0003	0.0027	0.0027	0.0026	0.0028	0.0040	0.0025	0.0024	0.0036	0.0035	0.0009	0	0.0006	0	0.0002	0.0078	0	0.0040	0.0019	0.0002	0.106	0.29688	T	0.0	0.92824	D	0.92	0.68779	P	0.956	0.86255	D	.	.	.	.	0.988659	0.26499	N	1.975	0.53506	M	.	.	.	-0.48	0.15379	N	0.319	0.36043	-0.9998	0.29973	T	0.165	0.50225	T	8	0.0107367635	0.00238	T	.	.	.	0.139	0.37390	.	.	0.0611884634855	0.05136	0.23789760866812806	0.23703	.	.	0.710054159164	0.68602	T	0.082116	0.36753	T	-0.428643	0.01510	T	-0.387126	0.34888	T	0.0268319409778388	0.01521	T	0.79622	0.43953	T	0.04245453	0.06440	0.06273653	0.12319	0.04245453	0.06440	0.06273653	0.12319	-8.765	0.66361	D	.	.	0.290	0.52135	B	.;.	.;.	3.389537	0.46917	22.4	0.99806732465279457	0.89085	0.94881	0.62654	D	AEFDBI	0.496965	0.53168	N	0.236662072631876	0.52983	3.469372	0.189637367321184	0.49279	3.132941	0.292783162183409	0.19105	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	2.98	2.98	0.33575	3.793000	0.55188	6.631000	0.56152	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.146000	0.20164	0.0:0.0:1.0:0.0	9.677	0.39210	867	0.32089	Zinc finger, FLYWCH-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2435.43	106	chr16	2937288	.	G	A	2435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.98;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=-2.065;QD=22.98;ReadPosRankSum=0.046;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,99,1485:.	9	0	1	0
chr16	2966796	2966796	G	A	splicing	KREMEN2	NM_024507:exon5:c.640+1G>A;NM_001253726:exon5:c.523+1G>A;NM_001253725:exon5:c.523+1G>A;NM_172229:exon5:c.640+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445963984	2.761e-06	2.748e-06	1.374e-06	4.161e-06	4.664e-05	6.5e-07	4.4e-07	1.589e-05	9.34e-06	0	0	0	0	0	0	0	0	4.664e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127134	0.67081	D	-0.0551568	0.66669	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.	.;.;.;.;.;.	5.868233	0.93883	33	0.98910529971911676	0.48363	0.87187	0.46651	D	AEFDBCI	.	.	.	0.970808478804533	0.94775	13.02903	0.778385864154196	0.88251	9.513424	0.999999998892591	0.74766	0.079558	0.02119	0	0.079893	0.02001	0	0.068936	0.01964	0	0.085113	0.02366	1	0.95871	0.64713	4.79	4.79	0.60909	7.350000	0.78633	8.402000	0.77108	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.870000	0.41412	0.0:0.0:1.0:0.0	15.390	0.74451	867	0.32089	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	879.43	34	chr16	2966796	.	G	A	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.755;DP=401;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.083;SOR=0.895	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr16	2971918	2971918	G	C	exonic	PAQR4	.	nonsynonymous SNV	PAQR4:NM_001284512:exon2:c.G570C:p.W190C,PAQR4:NM_001284511:exon3:c.G675C:p.W225C,PAQR4:NM_001284513:exon3:c.G591C:p.W197C,PAQR4:NM_152341:exon3:c.G792C:p.W264C,PAQR4:NM_001324118:exon4:c.G591C:p.W197C	.	419	1101	2	0	0	2	0.000907441	.	.	.	4043599	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.628	0.0925563262084	0.0003	0.000199681	0.0009	0.0002	0.0040	0	0	0.0005	0.0065	0.0009	0.0006921	107	154602	rs141132998	0.0007	0.0007	0.0007	0.0007	0.0018	0.0007	0.0007	0.0015	0.0014	0.0001	0.0018	0	0	0.0002	0.0002	0.0007	0.0006	0.0009	0.0005	0.0005	0.0004	0.0006	0.0012	0.0004	0.0004	0.0008	0.0006	0.0002	0	0.0012	0	0	0.0002	0.0034	0.0007	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	1.47	0.34841	T	-7.52	0.95102	D	0.809	0.81261	-0.4735	0.69602	T	0.240	0.60738	T	10	0.1337651	0.25459	T	0.092556	0.75913	D	0.628	0.85666	0.762	0.89053	0.503683571763	0.50005	0.9680416429472074	0.96792	0.806452370599	0.66494	0.705561220646	0.67949	T	0.316312	0.68786	T	-0.0724569	0.40933	T	0.11636	0.77993	D	0.181632547279002	0.19338	T	0.875312	0.58632	D	0.91044074	0.92336	0.78031176	0.87048	0.91044074	0.92337	0.78031176	0.87049	-10.777	0.78421	D	.	.	0.969	0.92711	P	.;.;.;.;.	.;.;.;.;.	5.713780	0.93185	33	0.99135647100918178	0.53383	0.98150	0.80031	D	AEFDGBHCI	0.807974	0.73187	D	0.792483899385624	0.85633	8.63461	0.712389758827928	0.83319	7.990861	0.999999999993559	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.8	4.8	0.61157	7.251000	0.77723	11.764000	0.95697	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:1.0:0.0	15.378	0.74343	862	0.33134	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	608.43	39	chr16	2971918	.	G	C	608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=383;ExcessHet=0;FS=1.116;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-1.575;SOR=0.926	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr16	3028421	3028421	T	A	exonic	BICDL2	.	nonsynonymous SNV	BICDL2:NM_001103175:exon8:c.A1286T:p.D429V,BICDL2:NM_001369667:exon9:c.A1286T:p.D429V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0809798597216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.052	0.49942	T	1.0	0.90584	D	0.998	0.88582	D	0.714985	0.09983	N	0.865463	0.999994	0.58761	D	.	.	.	0.85	0.47130	T	0.79	0.01893	N	0.763	0.83473	-1.0454	0.15709	T	0.141	0.46016	T	10	0.3108813	0.48562	T	0.08098	0.73581	D	0.242	0.54781	0.189	0.09907	0.559156356702	0.55575	0.5475767344762502	0.54683	0.704991935162	0.61363	0.574794530869	0.49354	T	0.010821	0.09727	T	0.0632676	0.60022	T	-0.146897	0.59519	T	0.884188950061798	0.53441	D	0.835616	0.52235	T	0.12762977	0.29860	0.065613985	0.13325	0.12762977	0.29860	0.065613985	0.13325	-12.538	0.88778	D	.	.	0.823	0.78398	P	.;.;.;.	.;.;.;.	4.711154	0.75686	26.4	0.99110522879920804	0.52725	0.06845	0.12870	N	ALL	0.506590	0.53725	D	0.201094825733281	0.51253	3.307998	0.0910442445476823	0.44095	2.698076	0.999999999999994	0.74766	0.839682	0.99964	0	0.567169	0.20442	1	0.736553	0.94036	0	0.825845	0.99933	0	.	.	4.16	3.05	0.34272	1.980000	0.40241	.	.	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.2181:0.7819	7.574	0.27091	740	0.53092	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	379.43	35	chr16	3028421	.	T	A	379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.184;DP=335;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-0.514;SOR=0.368	GT:AD:DP:GQ:PL	0/0:32,0:32:90:0,90,1350	9	0	1	0
chr16	3029732	3029732	C	T	exonic	BICDL2	.	nonsynonymous SNV	BICDL2:NM_001103175:exon5:c.G770A:p.R257H,BICDL2:NM_001369667:exon6:c.G770A:p.R257H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0168049515781	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	2.59e-05	4	154602	rs762688973	3.127e-05	3.762e-05	1.868e-05	4.418e-05	0.0002	2.356e-05	2.094e-05	0.0002	0.0001	0	0	0	0	0	0	1.764e-05	8.747e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.118	0.28148	T	0.077	0.42436	T	0.013	0.16609	B	0.009	0.14300	B	0.003896	0.34365	N	0.247187	0.981742	0.39811	D	.	.	.	1.53	0.30401	T	-1.34	0.33401	N	0.267	0.31702	-1.0459	0.15563	T	0.053	0.22617	T	10	0.045858294	0.03706	T	0.016805	0.38239	T	0.026	0.05648	0.147	0.05039	0.137902524267	0.13322	0.14613386607773643	0.14535	0.198265135737	0.22201	0.592220842838	0.51808	T	0.008038	0.07400	T	-0.229606	0.16700	T	-0.56759	0.15671	T	0.0588039741821523	0.06978	T	0.768923	0.39853	T	0.09618368	0.22651	0.087753564	0.20419	0.09618368	0.22651	0.087753564	0.20418	-6.82	0.53558	T	.	.	0.098	0.16319	B	.;.;.;.	.;.;.;.	2.678502	0.34935	19.76	0.99256424770342322	0.57055	0.26988	0.23150	N	ALL	0.202697	0.32926	N	-0.542069452453605	0.20732	1.095158	-0.469767241999266	0.22991	1.251567	0.999999999995235	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606735	0.37207	0	0.554799	0.18163	0	.	.	5.14	3.14	0.35196	0.156000	0.16200	.	.	0.549000	0.26987	0.024000	0.20007	0.993000	0.31925	0.424000	0.27317	0.1692:0.7401:0.0:0.0906	6.988	0.23917	744	0.52588	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	355.43	27	chr16	3029732	.	C	T	355.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.83;DP=293;ExcessHet=0;FS=1.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=1.58;SOR=1.581	GT:AD:DP:GQ:PL	0/0:30,0:30:81:0,81,1215	9	0	1	0
chr16	3035213	3035213	A	G	splicing	BICDL2	NM_001103175:exon1:c.282+2T>C;NM_001369667:exon2:c.282+2T>C	.	.	.	441	1079	2	0	0	2	0.000925926	0.9989	0.824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0010	0	0	0	0	0.0030	0	0	0.0001876	29	154602	rs570632135	0.0023	0.0012	0.0025	0.0022	0.0058	0.0022	0.0022	0.0047	0.0043	0	0.0058	0.0102	0	0.0003	0.0049	0.0023	0.0025	0.0009	0.0023	0.0017	0.0026	0.0019	0.0042	0.0020	0.0018	0.0027	0.0022	0.0005	0	0.0042	0.0075	0	0	0.0976	0.0027	0.0062	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.224153	0.17429	T	-0.0908914	0.64094	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.217917	0.63779	24.6	0.98467094563200064	0.41814	0.72612	0.35535	D	AEFDBI	.	.	.	0.811022820546158	0.86791	9.000145	0.603376512871198	0.75186	6.265997	0.996787388318045	0.35006	0.090766	0.02384	0	0.085267	0.02369	0	0.129117	0.03641	0	0.075334	0.01956	0	0.795719	0.47073	4.8	4.8	0.61157	2.810000	0.47677	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.302000	0.24547	1.0:0.0:0.0:0.0	12.33	0.54358	768	0.49510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	245.43	25	chr16	3035213	.	A	G	245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.133;DP=319;ExcessHet=0;FS=8.869;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.22;ReadPosRankSum=0.906;SOR=0.096	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,991	9	0	1	0
chr16	3068238	3068238	C	T	exonic	IL32	.	nonsynonymous SNV	IL32:NM_001012636:exon4:c.C173T:p.P58L,IL32:NM_001012634:exon5:c.C140T:p.P47L,IL32:NM_001012635:exon5:c.C140T:p.P47L,IL32:NM_001308078:exon5:c.C338T:p.P113L,IL32:NM_001369587:exon5:c.C338T:p.P113L,IL32:NM_001369588:exon5:c.C338T:p.P113L,IL32:NM_001369591:exon5:c.C140T:p.P47L,IL32:NM_001369592:exon5:c.C140T:p.P47L,IL32:NM_001369593:exon5:c.C170T:p.P57L,IL32:NM_001369595:exon5:c.C140T:p.P47L,IL32:NM_001369596:exon5:c.C200T:p.P67L,IL32:NM_001012632:exon6:c.C200T:p.P67L,IL32:NM_001012633:exon6:c.C200T:p.P67L,IL32:NM_001012718:exon6:c.C200T:p.P67L,IL32:NM_001376923:exon6:c.C200T:p.P67L,IL32:NM_004221:exon6:c.C200T:p.P67L,IL32:NM_001012631:exon7:c.C200T:p.P67L,IL32:NM_001369589:exon7:c.C200T:p.P67L	.	417	1081	24	0	0	24	0.010979	0.0002	0.042	.	703639	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.089	.	0.0035	0.00299521	0.0060	0.0008	0.0120	0	0.0007	0.0073	0.0182	0.0051	0.0032341	500	154602	rs141583132	0.0036	0.0036	0.0036	0.0036	0.0118	0.0035	0.0035	0.0096	0.0088	0.0011	0.0030	0.0095	0	0.0013	0.0118	0.0037	0.0045	0.0033	0.0029	0.0029	0.0029	0.0029	0.0040	0.0027	0.0026	0.0036	0.0035	0.0012	0.0011	0.0031	0.0069	0	0.0012	0.0034	0.0040	0.0052	0.0037	0.007	0.63226	D	1.0	0.12246	T	0.002	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.75	0.73311	T	-3.69	0.84601	D	0.09	0.20262	-1.0508	0.14175	T	0.096	0.36159	T	9	0.0057647824	0.00137	T	.	.	.	0.089	0.25827	.	.	0.371157983038	0.36729	0.00396477721922768	0.00371	0.110558448003	0.12480	0.552215576172	0.46171	T	0.04808	0.33969	T	-0.45423	0.01066	T	-0.424293	0.30584	T	0.0166208605860135	0.00422	T	0.642236	0.25428	T	0.03586808	0.04304	0.062980935	0.12406	0.03586808	0.04303	0.062980935	0.12406	-4.723	0.39456	T	.	.	0.194	0.56231	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	-0.570557	0.01654	0.116	0.36303562391683897	0.02328	0.00216	0.01224	N	AEFBI	0.041015	0.06178	N	-1.77802557302646	0.00601	0.025904	-1.86218700591529	0.00580	0.02575188	0.999983698407311	0.51787	0.706548	0.73137	0	0.581341	0.33841	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	1.9	-3.8	0.04025	-2.506000	0.01038	.	.	-2.318000	0.00317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.3022:0.0:0.5119	3.824	0.08362	748	0.52143	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009202	0.005495	0.008152	0.011765	0.000000	0.000000	0.015528	0.003846	0.05	335.43	35	chr16	3068238	.	C	T	335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.028;DP=377;ExcessHet=0;FS=1.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.953;SOR=1.329	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,105,1503	9	0	1	0
chr16	3141330	3141330	G	A	exonic	ZNF213	.	nonsynonymous SNV	ZNF213:NM_001134655:exon6:c.G1363A:p.A455T,ZNF213:NM_004220:exon6:c.G1363A:p.A455T	.	409	1101	12	0	0	12	0.00542005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00860725341356	0.0013	0.000599042	0.0015	0	0.0018	0	0	0.0021	0.0027	0.0011	0.0013325	206	154602	rs147991342	0.0011	0.0011	0.0011	0.0012	0.0151	0.0011	0.0011	0.0122	0.0112	0.0013	0.0015	0.0198	0	0.0001	0.0151	0.0006	0.0030	0.0012	0.0014	0.0014	0.0012	0.0015	0.0022	0.0012	0.0011	0.0016	0.0014	0.0003	0	0.0022	0.0181	0	0	0.0238	0.0011	0.0066	0.0012	0.0	0.91255	D	0.017	0.62352	D	0.982	0.60036	D	0.715	0.54683	P	0.002126	0.37183	N	0.000000	0.981389	0.39771	D	1.145	0.29067	L	3.48	0.07125	T	-1.13	0.29114	N	0.301	0.37405	-1.0532	0.13520	T	0.025	0.10598	T	10	0.0071959794	0.00164	T	0.008607	0.22755	T	0.117	0.32689	.	.	0.577006569591	0.57369	0.05369935016967154	0.05311	1.27873789098	0.82476	0.670651495457	0.62931	T	0.045	0.27142	T	-0.412016	0.01927	T	-0.389237	0.34640	T	0.0370458097129067	0.03163	T	0.740126	0.35895	T	0.22234738	0.44832	0.19705257	0.43467	0.22234738	0.44832	0.19705257	0.43466	-4.54	0.31408	T	.	.	0.092	0.14062	B	.;.;.;.;.	.;.;.;.;.	4.408633	0.68188	25.2	0.99853275999709379	0.93279	0.47008	0.27887	N	AEFDBI	0.353208	0.44571	N	0.109257060374689	0.46894	2.922898	0.10649131400719	0.44878	2.761277	0.968378495061388	0.29047	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	3.281000	0.51389	.	.	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	15.987	0.79960	744	0.52588	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016129	0.010204	0.027174	0.011696	0.050000	0.034483	0.000000	0.011364	0.05	687.43	33	chr16	3141330	.	G	A	687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.906;DP=317;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.77;ReadPosRankSum=1.17;SOR=0.557	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,916	9	0	1	0
chr16	3356511	3356511	G	T	exonic	OR2C1	.	nonsynonymous SNV	OR2C1:NM_012368:exon1:c.G571T:p.D191Y	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.00555258219733	0.0005	0.000998403	0.0006	0	0.0003	0	0	0.0006	0.0011	0.0013	0.0005175	80	154602	rs138530420	0.0004	0.0004	0.0004	0.0005	0.0049	0.0004	0.0004	0.0034	0.0030	0.0001	0.0005	0.0008	0	0	0.0049	0.0004	0.0006	0.0009	0.0004	0.0004	0.0003	0.0004	0.0015	0.0003	0.0003	0.0007	0.0005	7.215e-05	0	0.0005	0.0012	0	0	0	0.0005	0.0009	0.0015	0.024	0.47745	D	0.023	0.57104	D	0.998	0.73220	D	0.987	0.77487	D	0.015713	0.28172	N	0.165417	0.615932	0.32663	D	3.215	0.89331	M	8.38	0.00245	T	-8.1	0.96679	D	0.393	0.43417	-0.9972	0.30701	T	0.003	0.00800	T	10	0.0695509	0.09996	T	0.005553	0.14319	T	0.174	0.44019	.	.	0.435808882951	0.43200	0.3855630754278392	0.38471	0.410300165374	0.41817	0.469830542803	0.34657	T	0.007954	0.07319	T	-0.273985	0.11317	T	-0.216777	0.53046	T	0.21765734154906	0.21347	T	0.79802	0.44234	T	0.565846	0.70832	0.54012436	0.73422	0.565846	0.70833	0.54012436	0.73423	-9.389	0.70166	D	.	.	0.291	0.52243	B	.	.	2.913356	0.38653	20.8	0.98848097419547964	0.47237	0.40407	0.26430	N	AEFDGBCI	0.183071	0.31040	N	0.110839134781692	0.46969	2.929196	-0.094524997152766	0.35615	2.062692	0.0040434678740774	0.10393	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	3.92	0.44525	1.185000	0.31675	.	.	-0.214000	0.08267	0.496000	0.26925	1.000000	0.68203	0.082000	0.17360	0.0892:0.0:0.9108:0.0	11.228	0.48122	659	0.61982	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.010101	0.006793	0.005848	0.000000	0.008621	0.003049	0.000000	0.05	3007.43	39	chr16	3356511	.	G	T	3007.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.382;DP=1040;ExcessHet=0;FS=5.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.26;ReadPosRankSum=1.21;SOR=0.403	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	9	0	1	0
chr16	3589592	3589592	C	G	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.G4046C:p.G1349A	Fanconi anemia, complementation group P, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	236954	Fanconi_anemia|not_provided|not_specified|Fanconi_anemia_complementation_group_P	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.006	0.00878627637589	0.0003	.	0.0001	0	8.64e-05	0	0	0.0002	0	0.0002	0.0001164	18	154602	rs151144102	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	2.987e-05	4.472e-05	0	0	0	0.0016	0.0002	0.0004	0.0003	5.917e-05	5.911e-05	5.141e-05	6.73e-05	0.0004	3.079e-05	2.211e-05	7.301e-05	3.033e-05	0	0	6.549e-05	0	0	0	0	8.822e-05	0	0.0004	0.528	0.07071	T	0.732	0.05128	T	0.001	0.07471	B	0.001	0.04355	B	0.570590	0.05477	N	1.229190	1	0.08975	N	0	0.06538	N	5.35	0.01058	T	0.34	0.03824	N	0.097	0.07811	-0.9255	0.44786	T	0.002	0.00585	T	10	0.026970595	0.00852	T	0.008786	0.23196	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.16878965524297848	0.16798	0.0635604997032	0.07079	0.232302188873	0.02143	T	0.025915	0.19284	T	-0.641645	0.00081	T	-0.848937	0.00973	T	0.00976248001554378	0.00128	T	0.443356	0.12326	T	0.050007477	0.08968	0.032101743	0.01896	0.050007477	0.08968	0.032101743	0.01896	-3.131	0.11656	T	.	.	0.099	0.16494	B	.	.	0.018041	0.04408	1.148	0.3570164571392383	0.02255	0.21078	0.21273	N	AEFDBCIJ	0.095682	0.19328	N	-1.47157605324573	0.02053	0.09024021	-1.43211537474618	0.02936	0.1360122	0.999999966347897	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	5.43	-1.92	0.07203	-0.067000	0.11538	.	.	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2536:0.1681:0.5783	5.363	0.15400	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.05	1465.43	126	chr16	3589592	.	C	G	1465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.055;DP=534;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.383;SOR=0.585	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	9	0	1	0
chr16	3590663	3590663	C	T	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.G2975A:p.G992E	Fanconi anemia, complementation group P, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	342910	not_specified|SLX4-related_disorder|not_provided|Fanconi_anemia_complementation_group_P|Fanconi_anemia	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.0624067171184	0.0003	0.000599042	0.0004	9.632e-05	0.0012	0	0	0.0005	0.0011	0.0001	0.0004204	65	154602	rs139287784	0.0005	0.0005	0.0005	0.0005	0.0175	0.0005	0.0005	0.0147	0.0137	0.0005	0.0016	0.0020	0	0	0.0175	0.0003	0.0013	0.0003	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0013	0.0011	0.0003	0	0.0018	0.0017	0	0	0.0068	0.0005	0.0005	0.0004	0.088	0.32296	T	0.128	0.34959	T	0.807	0.45251	P	0.217	0.37636	B	0.972596	0.08148	N	0.987593	1	0.08975	N	1.7	0.43825	L	5.11	0.01224	T	-1.93	0.44852	N	0.252	0.28498	-0.9949	0.31326	T	0.004	0.01192	T	10	0.006367922	0.00144	T	0.062407	0.68641	D	0.096	0.27654	.	.	0.18274738541	0.17906	0.1935292360301049	0.19270	0.265596492825	0.29113	0.226690292358	0.01732	T	0.198784	0.55588	T	-0.556491	0.00266	T	-0.602217	0.12625	T	0.0193810868039196	0.00643	T	0.49475	0.15329	T	0.04343045	0.06768	0.07398713	0.16137	0.04343045	0.06768	0.07398713	0.16137	-2.17	0.03897	T	.	.	0.119	0.24566	B	.	.	0.761621	0.11314	7.936	0.95727036889515915	0.27661	0.11039	0.16366	N	AEFGBI	0.054914	0.10025	N	-0.795783152816648	0.13420	0.6609437	-0.878885676969574	0.12595	0.6487897	0.947916034075457	0.27775	0.706548	0.73137	0	0.724815	0.89359	0	0.596874	0.31795	0	0.699875	0.68795	0	.	.	5.43	1.08	0.19456	0.448000	0.21443	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4882:0.4351:0.0767	9.509	0.38230	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.015152	0.017663	0.020468	0.000000	0.008621	0.000000	0.000000	0.05	1074.43	39	chr16	3590663	.	C	T	1074.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.071;DP=470;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=1.22;SOR=0.818	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,117,1755	9	0	1	0
chr16	3664410	3664410	-	CGG	exonic	TRAP1	.	nonframeshift insertion	TRAP1:NM_001272049:exon12:c.1273_1274insCCG:p.S424_G425insA,TRAP1:NM_016292:exon13:c.1432_1433insCCG:p.S477_G478insA	.	436	1057	29	0	0	29	0.0135324	.	.	.	714907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00499201	0.0071	0.0008	0.0046	0	0.0007	0.0059	0.0116	0.0222	0.004111	107	26028	rs201472428	0.0061	0.0061	0.0055	0.0066	0.0210	0.0059	0.0059	0.0202	0.0198	0.0009	0.0029	0.0068	0	0.0008	0.0123	0.0056	0.0059	0.0210	0.0041	0.0041	0.0038	0.0045	0.0203	0.0039	0.0037	0.0170	0.0158	0.0009	0.0110	0.0039	0.0055	0	0.0004	0.0034	0.0057	0.0052	0.0203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010101	0.000000	0.005450	0.017544	0.000000	0.000000	0.009317	0.026515	0.1	3994.1	34	chr16	3664410	.	C	CCGG	3994.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.415;DP=496;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.58;ReadPosRankSum=1.63;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1043	8	0	2	0
chr16	3676038	3676038	C	G	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon6:c.G653C:p.R218P,TRAP1:NM_016292:exon7:c.G812C:p.R271P	.	423	1098	1	0	0	1	0.000455166	0.0001	0.01	.	1979066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.589	0.119271420785	0.0002	.	5.02e-05	0.0003	0	0	0	1.515e-05	0.0022	0	3.88e-05	6	154602	rs201753276	1.37e-05	1.368e-05	1.908e-05	8.26e-06	0.0004	8.95e-06	7.27e-06	6.278e-05	2.59e-05	0.0001	0	0	0	0	0.0004	9.899e-06	3.316e-05	1.163e-05	3.942e-05	3.94e-05	3.854e-05	4.035e-05	7.24e-05	1.715e-05	1.129e-05	1.92e-05	1.032e-05	7.24e-05	0	0	0	0	0	0	2.94e-05	0.0005	0	0.017	0.53172	D	0.033	0.56192	D	0.367	0.34030	B	0.233	0.38358	B	0.005542	0.32703	N	0.307754	0.545515	0.31377	N	3.05	0.86762	M	-1.13	0.77719	T	-3.08	0.63323	D	0.735	0.74735	-0.1074	0.79929	T	0.447	0.78252	T	10	0.61315185	0.67557	D	0.119271	0.79954	D	0.589	0.83582	.	.	0.468420198123	0.46471	0.8401728920326386	0.83977	0.0286254250543	0.02943	0.276760280132	0.07045	T	0.296761	0.81403	T	-0.0399912	0.45950	T	-0.015786	0.69305	D	0.478856921195984	0.31855	T	0.955004	0.82846	D	0.8344396	0.86213	0.7256002	0.83792	0.8344396	0.86215	0.7256002	0.83793	-13.887	0.92684	D	0.4014342396724296	0.49318	0.706	0.81099	P	.;.;.;.	.;.;.;.	2.825638	0.37236	20.4	0.98378602487580902	0.40832	0.96282	0.68380	D	AEFDBI	0.818290	0.73958	D	-0.0918279266186418	0.37750	2.200813	-0.148683632657413	0.33459	1.914139	0.00328595136145704	0.10034	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	-0.157	0.12732	0.868000	0.27635	.	.	0.599000	0.40250	1.000000	0.71638	0.233000	0.23797	0.839000	0.39591	0.0:0.4317:0.0:0.5683	9.381	0.37478	637	0.64373	Heat shock protein Hsp90, N-terminal;Heat shock protein Hsp90, N-terminal;.;Heat shock protein Hsp90, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	928.43	36	chr16	3676038	.	C	G	928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.386;DP=396;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=-0.417;SOR=0.76	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1710	9	0	1	0
chr16	3676072	3676072	C	T	exonic	TRAP1	.	nonsynonymous SNV	TRAP1:NM_001272049:exon6:c.G619A:p.D207N,TRAP1:NM_016292:exon7:c.G778A:p.D260N	.	425	1096	1	0	0	1	0.000455996	.	.	.	1925135	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.561	0.0607499243738	.	.	0.0001	0	0.0003	0	0	0.0001	0	0.0001	0.0001229	19	154602	rs776753733	6.5e-05	6.567e-05	5.854e-05	7.152e-05	0.0004	5.429e-05	5.042e-05	0.0002	0.0002	5.974e-05	0.0004	0.0013	0	0	0	1.799e-05	0.0002	0.0001	5.915e-05	5.91e-05	6.425e-05	5.38e-05	0.0001	3.078e-05	2.21e-05	2.261e-05	9.07e-06	0	0	0.0001	0.0014	0	0	0	2.94e-05	0	0	0.132	0.26965	T	0.106	0.43913	T	0.932	0.51990	P	0.532	0.48601	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	-1.18	0.78314	T	-3.81	0.71882	D	0.68	0.68690	0.094	0.84070	D	0.498	0.81019	T	10	0.25667614	0.43074	T	0.06075	0.68106	D	0.561	0.82003	0.533	0.64148	0.891800763395	0.89072	0.6779650751693294	0.67735	0.123648921173	0.13916	0.543256044388	0.44906	T	0.281984	0.65472	T	-0.231229	0.16485	T	-0.263944	0.48430	T	0.340692728757858	0.26651	T	0.932007	0.87909	D	0.6210168	0.73818	0.31087998	0.57096	0.6210168	0.73819	0.31087998	0.57096	-8.065	0.63311	D	0.3127544019079691	0.41069	0.095	0.24088	B	.;.;.;.	.;.;.;.	4.504978	0.70489	25.5	0.99850710191348224	0.93013	0.99669	0.98513	D	AEFBI	0.927662	0.91069	D	0.529295901083716	0.68830	5.271549	0.552718449188364	0.71585	5.677548	0.999999999310552	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.505000	0.80519	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:1.0:0.0:0.0	18.346	0.90263	637	0.64373	Heat shock protein Hsp90, N-terminal|Histidine kinase/HSP90-like ATPase;Heat shock protein Hsp90, N-terminal;.;Heat shock protein Hsp90, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1042.43	36	chr16	3676072	.	C	T	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.389;DP=435;ExcessHet=0;FS=4.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-0.671;SOR=0.992	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,114,1710	9	0	1	0
chr16	3729202	3729202	C	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon30:c.G5731A:p.A1911T,CREBBP:NM_004380:exon31:c.G5845A:p.A1949T	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1887520	Rubinstein-Taybi_syndrome	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.198	0.172642801517	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380660032	5.857e-06	6.868e-06	4.335e-06	7.42e-06	5.628e-05	2.52e-06	1.82e-06	9.32e-06	3.49e-06	0	0	0	5.628e-05	0	0	3.754e-06	3.502e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.13392	T	0.51	0.10821	T	0.02	0.18235	B	0.007	0.12992	B	0.000386	0.44960	D	0.094982	0.898445	0.36113	D	-0.895	0.01383	N	-1.72	0.83241	D	-0.67	0.19297	N	0.199	0.28146	-0.6849	0.61146	T	0.287	0.65928	T	10	0.12058872	0.22844	T	0.172643	0.84957	D	0.198	0.48105	.	.	0.751862622022	0.74961	0.12719092682725033	0.12645	1.29775370337	0.82942	0.604816734791	0.53584	T	0.450002	0.79128	T	-0.0598217	0.42934	T	-0.293486	0.45409	T	0.0950286865737261	0.11802	T	0.858314	0.54891	D	0.06739857	0.14591	0.0825872	0.18862	0.06739857	0.14591	0.0825872	0.18861	-3.536	0.16940	T	0.11939617187872592	0.11119	0.074	0.08705	B	.;.	.;.	3.515194	0.49250	22.7	0.91873579883660106	0.21190	0.74680	0.36539	D	AEFDBCI	0.082486	0.16703	N	-0.444697634286659	0.23919	1.287946	-0.255500478846907	0.29581	1.658514	0.0179025254400094	0.13002	0.646311	0.45356	0	0.379588	0.06130	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	5.16	4.17	0.48303	1.925000	0.39705	.	.	0.594000	0.32500	0.916000	0.31843	0.999000	0.35428	0.682000	0.33600	0.29:0.71:0.0:0.0	13.178	0.59061	641	0.64016	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	534.43	33	chr16	3729202	.	C	T	534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=423;ExcessHet=0;FS=4.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=-2.44;SOR=0.319	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,104,1586	9	0	1	0
chr16	3778056	3778056	C	A	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon9:c.G1954T:p.A652S,CREBBP:NM_004380:exon10:c.G2068T:p.A690S	Rubinstein-Taybi syndrome 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	137684	Inborn_genetic_diseases|Rubinstein-Taybi_syndrome|not_specified|CREBBP-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.104	0.0296299249979	.	0.00119808	0.0006	0	0	0.0001	0	2.997e-05	0.0011	0.0042	0.0005175	80	154602	rs531539047	0.0003	0.0003	0.0001	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	0	2.236e-05	7.652e-05	5.038e-05	0	0	1.529e-05	0.0003	0.0043	0.0002	0.0002	0.0001	0.0002	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.298	0.14595	T	0.821	0.03817	T	0.756	0.43409	P	0.351	0.42849	B	0.006497	0.31997	N	0.305959	0.992052	0.27202	N	1.5	0.37844	L	-1.64	0.82533	D	-0.15	0.09297	N	0.136	0.13341	-0.7400	0.58452	T	0.281	0.65289	T	10	0.005286813	0.00116	T	0.02963	0.52101	D	0.104	0.29647	0.253	0.19223	0.724454754975	0.72201	0.12830815708222407	0.12755	0.93114524429	0.71818	0.308161735535	0.11629	T	0.369312	0.73405	T	-0.406135	0.02109	T	-0.355758	0.38543	T	0.0230231568093918	0.01026	T	0.751925	0.37414	T	0.022264704	0.00877	0.028830614	0.01156	0.019726079	0.00510	0.032473795	0.01988	-4.186	0.28568	T	0.19230528032703306	0.25265	0.068	0.02765	B	.;.;.	.;.;.	2.260766	0.28888	17.94	0.80922265560760598	0.13433	0.69203	0.34095	D	AEFBI	0.217323	0.34247	N	-0.670829116901181	0.16855	0.862471	-0.596534881268545	0.19583	1.051317	0.137414429372066	0.17208	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	2.59	0.30091	0.580000	0.23505	.	.	-0.233000	0.07663	0.095000	0.22689	0.310000	0.24267	0.903000	0.43903	0.0:0.5569:0.139:0.3041	5.784	0.17589	572	0.70300	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	783.43	34	chr16	3778056	.	C	A	783.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.07;DP=374;ExcessHet=0;FS=0.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.314;SOR=0.502	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1074	9	0	1	0
chr16	4657283	4657283	G	A	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon5:c.G481A:p.V161I,MGRN1:NM_001142290:exon5:c.G481A:p.V161I,MGRN1:NM_001142291:exon5:c.G481A:p.V161I,MGRN1:NM_015246:exon5:c.G481A:p.V161I	.	.	.	.	.	.	.	.	.	.	.	2257426	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0184728257181	.	.	3.313e-05	0	0	0.0005	0	0	0	0	2.59e-05	4	154602	rs758611746	2.805e-05	2.805e-05	2.995e-05	2.613e-05	0.0004	2.087e-05	1.878e-05	0.0002	0.0002	2.987e-05	0	0	0.0004	0	0	1.709e-05	8.279e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	0.116	0.28395	T	0.062	0.45318	T	0.011	0.29916	B	0.013	0.31460	B	0.000009	0.62929	N	0.110740	0.999998	0.58761	D	2.485	0.72352	M	1.36	0.34452	T	-0.38	0.14000	N	0.331	0.38129	-1.0868	0.06084	T	0.079	0.31344	T	10	0.090881646	0.15871	T	0.018473	0.40544	T	0.075	0.21907	0.259	0.20159	0.107399877778	0.10242	0.20479051323350966	0.20396	0.0361065396824	0.03815	0.47914275527	0.35938	T	0.074661	0.48354	T	-0.434202	0.01399	T	-0.498444	0.22508	T	0.205844144489699	0.20734	T	0.854015	0.53996	D	0.023515321	0.01098	0.04303731	0.05262	0.023515321	0.01097	0.04303731	0.05262	-10.068	0.74318	D	.	.	0.070	0.24532	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.885665	0.38196	20.7	0.99035561202151601	0.50895	0.93336	0.57944	D	AEFBCI	0.667228	0.63542	D	-0.0699038112688235	0.38719	2.271977	0.0457503998348309	0.41867	2.522507	0.749363671898335	0.23335	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.22	3.26	0.36471	6.828000	0.75100	1.736000	0.28364	-0.109000	0.15193	1.000000	0.71638	0.939000	0.28734	0.585000	0.31016	0.1591:0.0:0.8409:0.0	10.556	0.44306	659	0.61982	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1667.14	60	chr16	4657283	.	G	A	1667.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.67;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.62;SOR=0.631	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	8	0	2	0
chr16	4681761	4681761	G	C	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon12:c.G1277C:p.S426T,MGRN1:NM_001142291:exon12:c.G1277C:p.S426T,MGRN1:NM_001142290:exon13:c.G1343C:p.S448T,MGRN1:NM_015246:exon13:c.G1343C:p.S448T	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.020926345543	.	.	9.983e-05	0	9.101e-05	0	0	1.659e-05	0	0.0006	7.12e-05	11	154602	rs769483930	5.208e-05	5.199e-05	3.818e-05	6.612e-05	0.0007	4.265e-05	3.894e-05	0.0003	0.0003	0	8.958e-05	0	0	0	0.0007	1.35e-05	0.0002	0.0004	5.911e-05	5.909e-05	3.852e-05	8.066e-05	0.0004	3.076e-05	2.209e-05	0.0001	8.284e-05	0	0	0.0003	0	0	0	0	2.939e-05	0	0.0004	0.14	0.25664	T	0.366	0.20164	T	0.454	0.39586	P	0.197	0.42432	B	0.000414	0.44736	D	0.322570	0.998326	0.44771	D	1.7	0.43825	L	1.3	0.35590	T	-1.0	0.26422	N	0.261	0.33140	-1.1045	0.03588	T	0.053	0.22501	T	10	0.05583927	0.06166	T	0.020926	0.43616	T	0.042	0.11227	0.132	0.03662	0.173771789658	0.16945	0.35169590151705293	0.35083	0.0347031967724	0.03653	0.367655932903	0.20495	T	0.181141	0.53272	T	-0.506099	0.00528	T	-0.642786	0.09468	T	0.0479850810953752	0.05141	T	0.849315	0.53201	T	0.09086526	0.21275	0.067303315	0.13906	0.09086526	0.21274	0.067303315	0.13906	-3.823	0.22122	T	.	.	0.071	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	1.372379	0.17825	13.39	0.62041207141825672	0.06861	0.85513	0.44653	D	AEFDBCI	0.452586	0.50608	N	-0.60187077948584	0.18888	0.9842668	-0.600923122901011	0.19469	1.044708	0.999921168459923	0.46280	0.67177	0.52595	0	0.697927	0.68747	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	5.33	-0.291	0.12207	1.294000	0.32971	1.843000	0.29202	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.2583:0.194:0.5478:0.0	6.381	0.20740	702	0.57624	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	868.43	34	chr16	4681761	.	G	C	868.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.453;DP=382;ExcessHet=0;FS=2.293;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.692;SOR=1.077	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1249	9	0	1	0
chr16	4860765	4860765	C	G	exonic	UBN1	.	nonsynonymous SNV	UBN1:NM_001079514:exon7:c.C773G:p.A258G,UBN1:NM_001288656:exon7:c.C773G:p.A258G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0299737417268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.019	0.59159	D	0.376	0.37313	B	0.073	0.34351	B	0.000068	0.52346	D	0.170871	0.884881	0.35827	D	2.495	0.72670	M	1.27	0.51952	T	-1.55	0.37566	N	0.153	0.24510	-0.7390	0.58504	T	0.158	0.49128	T	10	0.10841563	0.20180	T	0.029974	0.52383	D	0.193	0.47281	0.199	0.11247	0.23798241625	0.23396	0.11904256442220747	0.11831	0.155848599088	0.17590	0.443365812302	0.31037	T	0.433705	0.78104	T	-0.0666607	0.41858	T	-0.33353	0.41074	T	0.917334735393524	0.57513	D	0.89601	0.63722	D	0.22959465	0.45699	0.2834786	0.54341	0.22959465	0.45699	0.2834786	0.54340	-7.568	0.58304	D	0.5918208919829209	0.65862	0.136	0.29724	B	.;.;.	.;.;.	3.801675	0.54779	23.5	0.99668383213953415	0.78394	0.90791	0.52267	D	AEFBI	0.311412	0.41715	N	0.279789685978416	0.55126	3.676831	0.402235410846242	0.61703	4.374317	0.999999324261579	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	2.959000	0.48846	7.728000	0.67649	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.347	0.98800	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1405.43	35	chr16	4860765	.	C	G	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=397;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=0.683;SOR=0.994	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,992	9	0	1	0
chr16	4893613	4893613	G	A	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon13:c.C1420T:p.R474W	.	418	1097	6	1	0	8	0.00363306	.	.	.	3591280	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.085	0.0434536821318	0.0003	0.000399361	0.0003	0	0.0005	0.0002	0	0.0003	0	0.0003	0.000207	32	154602	rs190987244	0.0001	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0	0.0002	0	0	0	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	4.814e-05	0	0.0002	0	0	0	0	0.0003	0.0009	0	0.001	0.78490	D	0.002	0.79402	D	0.978	0.58756	D	0.306	0.41250	B	0.016368	0.27995	N	0.321942	0.526321	0.31939	D	2.2	0.62015	M	1.26	0.36330	T	-4.17	0.75456	D	0.39	0.43126	-0.8675	0.50717	T	0.071	0.28904	T	10	0.19036761	0.34677	T	0.043454	0.60992	D	0.085	0.24743	.	.	0.712228473958	0.70971	0.5691765056347079	0.56845	0.0193887132627	0.01897	0.342622578144	0.16830	T	0.673494	0.90335	D	-0.302014	0.08471	T	-0.36847	0.37068	T	0.280912101268768	0.24210	T	0.777622	0.41060	T	0.1915127	0.40781	0.22081965	0.46871	0.1915127	0.40781	0.22081965	0.46870	-5.074	0.37632	T	.	.	0.116	0.23500	B	.;.	.;.	3.981795	0.58545	24.0	0.99876319427441607	0.95328	0.90203	0.51196	D	AEFDBI	0.752813	0.69319	D	0.16764168529389	0.49650	3.163051	0.172852519671912	0.48365	3.053399	0.95121965112771	0.27943	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.78	2.63	0.30420	2.389000	0.44060	5.424000	0.48574	-0.115000	0.14600	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:0.5122:0.4878	10.395	0.43376	470	0.78111	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1937.12	33	chr16	4893613	.	G	A	1937.12	.	AC=2;AF=0.1;AN=20;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.27;SOR=0.966	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,980	9	1	0	0
chr16	5033360	5033360	A	G	exonic	NAGPA	.	nonsynonymous SNV	NAGPA:NM_016256:exon2:c.T455C:p.V152A	.	418	1097	7	0	0	7	0.00318037	.	.	.	2347270	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.099	0.0297701984017	0.0005	.	0.0004	0.0003	9.414e-05	0	0.0006	0.0005	0	0.0002	0.0002458	38	154602	rs189630368	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	2.99e-05	0.0001	3.831e-05	0	0.0005	0.0037	0.0002	0.0003	0.0003	0.0003	0.0003	0.0002	0.0005	0.0004	0.0002	0.0002	0.0003	0.0002	9.638e-05	0	0.0002	0	0	0.0009	0.0068	0.0004	0.0009	0.0004	0.002	0.72154	D	0.004	0.74150	D	0.982	0.60036	D	0.82	0.59072	P	0.010597	0.29863	N	0.321361	0.579819	0.31109	N	2.27	0.64531	M	1.27	0.36146	T	-3.5	0.68178	D	0.285	0.42443	-0.8085	0.54641	T	0.130	0.43989	T	10	0.12089977	0.22909	T	0.02977	0.52214	D	0.099	0.28413	.	.	0.36453787251	0.36064	0.7888937185436866	0.78841	0.892434076993	0.70274	0.714099824429	0.69187	T	0.725599	0.92279	D	-0.350144	0.04718	T	-0.393563	0.34135	T	0.0808357773658808	0.10093	T	0.893711	0.63166	D	0.43018097	0.62764	0.48477352	0.70176	0.43018097	0.62765	0.48477352	0.70176	-9.552	0.71684	D	.	.	0.440	0.67013	A	.;.	.;.	4.937271	0.81456	27.6	0.99688983829227673	0.79775	0.51418	0.28891	D	AEFDGBCI	0.637318	0.61615	D	0.126779434557327	0.47715	2.993331	0.191742262020659	0.49392	3.143062	0.999999999814813	0.74766	0.652421	0.48094	0	0.748881	0.99253	0	0.503968	0.08637	0	0.604282	0.37693	0	.	.	4.77	3.65	0.40985	6.677000	0.74337	7.864000	0.71599	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.8982:0.0:0.1018:0.0	7.876	0.28760	867	0.32089	Phosphodiester glycosidase;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001013	0.000000	0.001362	0.000000	0.000000	0.000000	0.006211	0.000000	0.05	778.43	34	chr16	5033360	.	A	G	778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.09;DP=469;ExcessHet=0;FS=1.695;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.03;ReadPosRankSum=1.38;SOR=0.506	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1281	9	0	1	0
chr16	5071868	5071868	G	A	exonic	ALG1	.	nonsynonymous SNV	ALG1:NM_019109:exon1:c.G19A:p.V7I	Congenital disorder of glycosylation, type Ik, Autosomal recessive	2	1518	2	0	0	2	0.000658328	.	.	.	190586	ALG1-congenital_disorder_of_glycosylation|not_provided	MONDO:MONDO:0012052,MedGen:C2931005,OMIM:608540,Orphanet:79327|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.105	0.0297585964628	0.0002	0.000599042	0.0008	0	0	0	0	0	0.0033	0.0050	0.0004981	77	154602	rs199891552	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	4.513e-05	0	0	0	0	1.171e-05	0.0002	0.0037	9.845e-05	9.842e-05	5.138e-05	0.0001	0.0031	6e-05	4.874e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.536	0.06891	T	0.599	0.13912	T	0.039	0.21116	B	0.037	0.23121	B	0.318569	0.14310	N	0.690501	1	0.25535	N	0.695	0.17993	N	-1.02	0.76300	T	-0.07	0.08033	N	0.134	0.13055	-0.9316	0.43903	T	0.233	0.59928	T	10	0.0046248436	0.00096	T	0.029759	0.52206	D	0.105	0.29889	.	.	0.564579235405	0.56121	0.4385728961308984	0.43774	0.0537900202015	0.05943	0.519137382507	0.41504	T	0.051579	0.38083	T	-0.533448	0.00367	T	-0.539182	0.18376	T	0.0220379647184601	0.00914	T	0.49905	0.15565	T	0.043572053	0.06815	0.05113512	0.08168	0.049974255	0.08955	0.048931487	0.07371	-5.791	0.44496	T	.	.	0.101	0.25000	B	.;.	.;.	0.856501	0.12288	8.829	0.9660720671041777	0.30430	0.20730	0.21148	N	ALL	0.056261	0.10386	N	-0.926603107676463	0.10223	0.4875051	-0.89870022907482	0.12125	0.6218702	0.999999999996993	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.81	3.83	0.43287	0.425000	0.21065	0.952000	0.22930	0.676000	0.76740	0.047000	0.21291	0.002000	0.18203	0.001000	0.02609	0.0:0.1893:0.8107:0.0	10.980	0.46702	873	0.30802	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	708.43	33	chr16	5071868	.	G	A	708.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=374;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.008;SOR=1.244	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	9	0	1	0
chr16	8570005	8570005	G	A	exonic	TMEM114	.	nonsynonymous SNV	TMEM114:NM_001290095:exon3:c.C302T:p.T101I,TMEM114:NM_001146336:exon4:c.C440T:p.A147V,TMEM114:NM_001290097:exon4:c.C197T:p.A66V	.	0	1451	65	6	0	77	0.0258476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0046	0.00319489	0.0074	0.0008	0	0	0	0.0076	0	0.0094	0.0016753	259	154602	rs141472774	0.0055	0.0053	0.0055	0.0056	0.0173	0.0054	0.0054	0.0145	0.0135	0.0010	0.0021	0.0107	0	0.0025	0.0173	0.0057	0.0064	0.0078	0.0040	0.0040	0.0042	0.0038	0.0070	0.0037	0.0036	0.0055	0.0053	0.0011	0	0.0032	0.0092	0	0.0018	0.0272	0.0060	0.0066	0.0070	.	.	.	0.045	0.49390	D	0.995	0.67487	D	0.946	0.68276	D	.	.	.	.	.	.	.	2.48	0.72069	M	.	.	.	.	.	.	0.679	0.71232	-0.1479	0.78967	T	0.344	0.70923	T	7	0.00557217	0.00123	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.6843745277395868	0.68376	.	.	0.504805743694	0.39498	T	0.032189	0.22378	T	-0.428688	0.01509	T	-0.382725	0.35404	T	0.0273435216915867	0.01593	T	0.880312	0.59828	D	0.13088708	0.30526	0.33624232	0.59429	0.13088708	0.30526	0.33624232	0.59428	-9.664	0.71876	D	.	.	0.557	0.67085	A	.;.	.;.	5.037345	0.83818	28.1	0.99843652617835343	0.92403	0.89397	0.49837	D	AEFDBI	0.651891	0.62548	D	0.588833658082171	0.72476	5.81192	0.514427979412752	0.68961	5.292708	0.999999802251422	0.74766	0.50284	0.20314	0	0.547309	0.14657	0	0.338622	0.05889	2	0.530356	0.10902	0	.	.	4.79	4.79	0.60909	4.990000	0.63609	9.440000	0.80826	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	16.824	0.85791	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015343	0.006757	0.010417	0.030534	0.000000	0.000000	0.024038	0.020270	0.05	570.43	33	chr16	8570005	.	G	A	570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=332;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.578;SOR=1.101	GT:AD:DP:GQ:PL	0/1:19,24:43:99:582,0,457	9	0	1	0
chr16	8855238	8855238	C	T	exonic	CARHSP1	.	nonsynonymous SNV	CARHSP1:NM_001042476:exon4:c.G370A:p.V124M,CARHSP1:NM_001278263:exon4:c.G370A:p.V124M,CARHSP1:NM_001278264:exon4:c.G370A:p.V124M,CARHSP1:NM_001278265:exon4:c.G370A:p.V124M,CARHSP1:NM_001278266:exon4:c.G370A:p.V124M,CARHSP1:NM_014316:exon4:c.G370A:p.V124M,CARHSP1:NM_001278260:exon5:c.G370A:p.V124M,CARHSP1:NM_001278261:exon5:c.G370A:p.V124M,CARHSP1:NM_001278262:exon5:c.G370A:p.V124M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.108350687287	0.0007	.	0.0008	9.61e-05	0.0004	0.0001	0.0046	0.0009	0	0	0.0007115	110	154602	rs149072869	0.0009	0.0009	0.0009	0.0009	0.0009	0.0009	0.0008	0.0009	0.0009	5.977e-05	0.0003	0	0.0001	0.0039	0.0003	0.0009	0.0004	2.322e-05	0.0009	0.0009	0.0007	0.0010	0.0010	0.0007	0.0007	0.0008	0.0008	0.0003	0	0.0002	0	0	0.0041	0	0.0010	0.0005	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	.	.	.	-2.64	0.58248	D	0.796	0.84090	0.332	0.88065	D	0.606	0.86026	D	9	0.02310896	0.00595	T	0.108351	0.78483	D	0.405	0.71791	.	.	0.608546780867	0.60540	0.5656272418383417	0.56489	.	.	0.674033522606	0.63413	T	0.376348	0.73976	T	0.0411935	0.57202	T	0.245862	0.85424	D	0.219267068607503	0.21428	T	0.927907	0.84976	D	0.6212168	0.73828	0.5227987	0.72430	0.6212168	0.73830	0.5227987	0.72431	-9.233	0.69185	D	.	.	0.881	0.85666	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	5.538176	0.91939	32	0.99903132513922788	0.97426	0.98528	0.83745	D	AEFDBHCI	0.938283	0.93727	D	1.02218157527888	0.96387	14.63268	0.974503974216356	0.98070	17.36031	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	7.905000	0.86479	7.534000	0.59965	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:1.0:0.0:0.0	19.632	0.95708	928	0.17405	Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold-shock protein, DNA-binding|Cold shock domain|Cold-shock protein, DNA-binding;Cold shock domain|Cold-shock protein, DNA-binding;Cold shock domain|Cold-shock protein, DNA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2194.43	156	chr16	8855238	.	C	T	2194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.53;DP=531;ExcessHet=0;FS=1.276;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=1.23;SOR=0.552	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr16	10690003	10690003	T	C	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon2:c.A587G:p.H196R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	0.0029	0.00499201	0.0012	0.0129	0.0005	0	0	0	0	0.0001	0.0011255	174	154602	rs16957546	0.0003	0.0003	0.0004	0.0003	0.0121	0.0003	0.0003	0.0112	0.0108	0.0121	0.0005	0	0	0	0.0002	2.698e-06	0.0008	9.275e-05	0.0032	0.0032	0.0035	0.0028	0.0111	0.0029	0.0028	0.0103	0.0099	0.0111	0	0.0011	0	0	0	0	0	0.0024	0	0.003	0.68238	D	0.026	0.55759	D	0.421	0.35387	B	0.285	0.40506	B	0.112711	0.19346	N	0.507607	0.989031	0.40874	D	2.955	0.85029	M	4.27	0.02513	T	-5.2	0.83695	D	0.445	0.48319	-0.9777	0.35526	T	0.010	0.03719	T	10	0.014206141	0.00299	T	.	.	.	0.182	0.45420	.	.	0.365120060079	0.36123	0.11320244772976647	0.11248	0.105241229832	0.11901	0.393124192953	0.24109	T	0.034767	0.23454	T	-0.423727	0.01620	T	-0.3704	0.36841	T	0.119658994800533	0.14397	T	0.885811	0.61165	D	0.54228234	0.69524	0.67735606	0.81051	0.54228234	0.69525	0.67735606	0.81051	-7.71	0.59077	D	.	.	0.129	0.27493	B	.	.	2.555650	0.33087	19.24	0.96489449216890011	0.30002	0.93283	0.57804	D	AEFDBI	0.388852	0.46830	N	-0.113483654662047	0.36805	2.132436	-0.115744538101239	0.34754	2.002793	0.705011130549052	0.22747	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.22	1.45	0.21708	3.755000	0.54910	.	.	0.665000	0.62972	1.000000	0.71638	0.957000	0.29195	0.994000	0.71098	0.4244:0.0:0.0:0.5756	9.111	0.35889	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1486.43	35	chr16	10690003	.	T	C	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=435;ExcessHet=0;FS=2.352;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.986;SOR=0.889	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1204	9	0	1	0
chr16	10694795	10694795	C	T	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.G79A:p.V27I	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0078	0.00339457	0.0066	0.0015	0.0029	0	0.0038	0.0091	0.0046	0.0069	0.0065976	1020	154602	rs61731533	0.0096	0.0096	0.0095	0.0097	0.0111	0.0094	0.0094	0.0109	0.0109	0.0013	0.0029	0.0035	5.038e-05	0.0050	0.0066	0.0111	0.0078	0.0068	0.0060	0.0060	0.0063	0.0057	0.0103	0.0057	0.0056	0.0097	0.0094	0.0018	0.0022	0.0033	0.0023	0	0.0029	0.0034	0.0103	0.0066	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.094	0.25382	B	0.014	0.16862	B	0.124729	0.02757	N	1.902590	1	0.08975	N	1.95	0.52479	M	4.26	0.02538	T	0.0	0.07008	N	0.064	0.03613	-0.9154	0.46168	T	0.006	0.01944	T	10	0.0047971606	0.00101	T	.	.	.	0.030	0.07022	.	.	0.0846915920261	0.08053	0.16170722598953352	0.16091	0.0229737181384	0.02324	0.288652807474	0.08726	T	0.005992	0.05431	T	-0.724747	0.00026	T	-0.802794	0.01833	T	0.000307336298735413	0.00002	T	0.359864	0.08266	T	0.020847002	0.00658	0.023667308	0.00380	0.020847002	0.00658	0.023667308	0.00380	-3.793	0.20700	T	.	.	0.072	0.04316	B	.	.	-0.513565	0.01825	0.144	0.42045500763704391	0.03073	0.11876	0.16918	N	AEFDGBI	0.074899	0.15026	N	-1.2717455739678	0.04020	0.1806595	-1.29849188015234	0.04451	0.2099952	0.330834579795098	0.19484	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.46	0.037	0.13513	0.275000	0.18461	.	.	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5188:0.0:0.4812	8.111	0.30074	970	0.06235	.	.	.	TEKT5	Testis	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.003788	0.05	837.43	33	chr16	10694795	.	C	T	837.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.455;DP=404;ExcessHet=0;FS=0.863;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.52;SOR=0.818	GT:AD:DP:GQ:PL	0/1:39,37:76:99:849,0,920	9	0	1	0
chr16	10906969	10906969	C	T	exonic	CIITA	.	nonsynonymous SNV	CIITA:NM_001379330:exon10:c.C1333T:p.R445C,CIITA:NM_001379331:exon10:c.C1330T:p.R444C,CIITA:NM_000246:exon11:c.C1477T:p.R493C,CIITA:NM_001286402:exon11:c.C1480T:p.R494C,CIITA:NM_001379332:exon11:c.C1480T:p.R494C,CIITA:NM_001379333:exon11:c.C1477T:p.R493C,CIITA:NM_001379334:exon11:c.C1408T:p.R470C	Bare lymphocyte syndrome, type II, complementation group A, Autosomal recessive	0	1521	0	1	0	2	0.00065703	.	.	.	1921072	MHC_class_II_deficiency	MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.536	0.37938819418	.	.	8.431e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs751075993	2.534e-05	2.531e-05	2.181e-05	2.891e-05	3.058e-05	1.87e-05	1.633e-05	2.201e-05	1.942e-05	2.988e-05	0	0	0	0	0	3.058e-05	3.312e-05	0	4.602e-05	4.597e-05	6.425e-05	2.692e-05	0.0001	2.11e-05	1.527e-05	2.261e-05	1.032e-05	7.241e-05	0	0.0001	0	0	0	0	2.941e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.001149	0.40056	N	0.112108	0.999999	0.21979	N	.	.	.	-1.78	0.83737	D	-5.45	0.85468	D	0.681	0.68777	0.093	0.84044	D	0.724	0.90557	D	10	0.9567603	0.95045	D	0.379388	0.92935	D	0.536	0.80545	0.735	0.86806	0.925541609963	0.92478	0.6894979034013161	0.68889	0.676677899647	0.59787	0.469860851765	0.34660	T	.	.	.	0.0688807	0.60712	T	0.0433128	0.73144	D	0.917845249176025	0.57585	D	0.945505	0.79230	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47228	B	.;.	.;.	4.420809	0.68469	25.2	0.99854679970723459	0.93368	0.57630	0.30427	D	AEFDBCI	0.466887	0.51435	N	0.445472636561559	0.63948	4.638595	0.282226253384499	0.54500	3.614966	0.999899548886444	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.27	5.27	0.73797	2.842000	0.47931	.	.	0.599000	0.40250	0.971000	0.34370	1.000000	0.68203	0.016000	0.10718	0.2822:0.7178:0.0:0.0	11.437	0.49318	964	0.07719	NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	4098.43	45	chr16	10906969	.	C	T	4098.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=691;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.245;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1109	9	0	1	0
chr16	11276306	11276306	T	C	exonic	PRM2	.	nonsynonymous SNV	PRM2:NM_001286356:exon1:c.A65G:p.H22R,PRM2:NM_001286357:exon1:c.A65G:p.H22R,PRM2:NM_001286358:exon1:c.A65G:p.H22R,PRM2:NM_001286359:exon1:c.A65G:p.H22R,PRM2:NM_002762:exon1:c.A65G:p.H22R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00257243412909	0.0004	.	0.0001	0.0015	8.652e-05	0	0	0	0	0	0.0001035	16	154602	rs377324170	4.925e-05	4.925e-05	5.853e-05	3.988e-05	0.0013	3.992e-05	3.669e-05	0.0010	0.0009	0.0013	0.0001	0	0	0	0.0007	0	0.0002	3.478e-05	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	0	0.0005	0	0.086	0.36709	T	0.724	0.08565	T	0.192	0.29441	B	0.058	0.26451	B	0.005124	0.01063	N	3.254830	1	0.08975	N	1.245	0.31408	L	.	.	.	-3.38	0.70067	D	0.102	0.08925	-0.9702	0.37157	T	0.077	0.30951	T	9	0.013729751	0.00290	T	0.002572	0.05178	T	0.041	0.10877	.	.	0.0920862733494	0.08535	0.0036730929382603485	0.00343	0.162832045209	0.18381	.	.	.	0.576848	0.86080	D	-0.62128	0.00108	T	-0.68983	0.06399	T	0.0408391603678381	0.03843	T	0.335166	0.07140	T	0.10661738	0.25209	0.15532127	0.36414	0.10661738	0.25209	0.15532127	0.36413	-4.074	0.24905	T	.	.	0.107	0.24901	B	.;.	.;.	-0.121801	0.03515	0.665	0.50650105206601959	0.04422	0.02750	0.07434	N	AEFDBI	0.035718	0.04644	N	-1.14326747422954	0.05891	0.2697807	-1.25395989552805	0.05072	0.2408481	0.861160779439901	0.25228	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	3.06	-2.63	0.05775	-0.508000	0.06426	-1.007000	0.06626	0.595000	0.32841	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.7437:0.2563	11.238	0.48183	911	0.21964	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1849.43	40	chr16	11276306	.	T	C	1849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.45;DP=555;ExcessHet=0;FS=1.152;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-1.034;SOR=0.789	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr16	11399522	11399522	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon52:c.C7711T:p.L2571F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00199681	0	0	.	.	.	0	.	.	0.0004226	11	26028	rs193240490	0.0003	0.0002	0.0003	0.0002	0.0070	0.0002	0.0002	0.0054	0.0049	0.0070	0.0007	0	0	0	0.0008	1.265e-05	0.0005	0	0.0014	0.0014	0.0015	0.0013	0.0048	0.0013	0.0012	0.0043	0.0041	0.0048	0	0.0006	0	0	0	0.0034	0	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0049799383	0.00107	T	.	.	.	.	.	.	.	0.33440975612	0.33058	.	.	.	.	.	.	.	.	.	.	-0.579492	0.00194	T	-0.605458	0.12356	T	.	.	.	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.42126	B	.	.	1.761629	0.22409	15.61	0.51604943166518968	0.04593	0.04119	0.09594	N	AEFDBI	0.032430	0.03660	N	.	.	.	.	.	.	0.943257679567991	0.27560	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	3.94	2.96	0.33383	1.089000	0.30501	1.183000	0.24710	0.520000	0.23804	0.090000	0.22578	0.012000	0.20211	0.003000	0.05239	0.136:0.0:0.864:0.0	6.979	0.23870	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1040.43	34	chr16	11399522	.	G	A	1040.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=402;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=-0.04;SOR=0.968	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1009	9	0	1	0
chr16	11475684	11475684	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon20:c.G2764A:p.V922M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947695322	2.027e-05	1.59e-05	8.221e-06	3.198e-05	1.898e-05	7.93e-06	4.31e-06	5.05e-06	2.4e-06	0	0	0	0	0	0	1.898e-05	0.0001	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08383924	0.13988	T	.	.	.	.	.	.	.	0.119812018005	0.11559	.	.	.	.	.	.	.	.	.	.	-0.251096	0.13964	T	-0.598458	0.12941	T	.	.	.	0.346065	0.07604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12702	B	.	.	-0.682054	0.01363	0.077	0.8278916228045482	0.14376	0.00527	0.02446	N	AEFBI	0.035354	0.04537	N	.	.	.	.	.	.	0.959716858075821	0.28443	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.0	-6.35	0.01802	-0.754000	0.04892	-5.452000	0.01713	-2.308000	0.00320	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.332:0.1323:0.5357	6.463	0.21170	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1932.14	43	chr16	11475684	.	C	T	1932.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.419;DP=457;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.58;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,42:80:99:1|0:11475662_G_C:991,0,1363:11475662	8	0	2	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	33293.6	178	chr16	11927475	.	G	*	33293.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=1578;ExcessHet=0.2065;FS=0.681;InbreedingCoeff=0.2;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=1.16;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,42:120:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:3799,2238,3029:11927441	8	0	2	0
chr16	11927632	11927688	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.357_413del:p.D120_A138del	.	431	1073	18	0	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0035	0.0007	0	0.0002	0.0002	0.0023	0.0051	3.84e-05	1	26028	.	0.0008	0.0013	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0.0039	0.0007	0.0002	0	0.0002	0.0026	0.0002	0.0011	0.0076	0.0033	0.0045	0.0030	0.0035	0.0145	0.0030	0.0029	0.0118	0.0108	0.0089	0	0.0015	0.0003	0	9.495e-05	0.0068	0.0005	0.0010	0.0145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	457.39	178	chr16	11927631	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	457.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.99;DP=1086;ExcessHet=0;FS=8.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.81;MQRankSum=0.7;QD=2.81;ReadPosRankSum=1.59;SOR=1.694	GT:AD:DP:GQ:PL	0/0:139,0:139:99:0,120,1800	9	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:132,47:179:33:33,0,1810	0	0	10	0
chr16	14629657	14629657	G	A	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon2:c.C37T:p.H13Y,PARN:NM_002582:exon2:c.C37T:p.H13Y	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	419	1102	1	0	0	1	0.000453515	.	.	.	1908711	Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_4|Dyskeratosis_congenita,_autosomal_recessive_6	MONDO:MONDO:0014612,MedGen:C4225347,OMIM:616371,Orphanet:2032|MONDO:MONDO:0014600,MedGen:C4225356,OMIM:616353	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00588638341977	.	.	1.658e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756570032	2.054e-06	2.736e-06	1.363e-06	2.752e-06	2.236e-05	5.5e-07	1.5e-07	.	.	0	2.236e-05	0	0	0	0	9.003e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.38633	T	0.028	0.54934	D	0.404	0.34945	B	0.313	0.41496	B	0.072608	0.21398	N	0.536779	1	0.81001	D	0	0.06538	N	1.97	0.22067	T	-0.96	0.35597	N	0.422	0.48596	-1.0424	0.16592	T	0.032	0.13592	T	10	0.2158114	0.38144	T	0.005886	0.15310	T	0.098	0.28162	0.596	0.72617	0.273070737957	0.26916	0.24208805182910598	0.24122	0.167012034591	0.18835	0.52680516243	0.42585	T	0.042187	0.26101	T	-0.257782	0.13161	T	-0.432215	0.29685	T	0.351652480535502	0.27084	T	0.920408	0.71398	D	0.39358017	0.60285	0.4398452	0.67323	0.39358017	0.60285	0.4398452	0.67323	-10.744	0.78235	D	.	.	0.087	0.20702	B	.;.;.;.	.;.;.;.	4.549235	0.71574	25.7	0.9680664640886143	0.31172	0.89018	0.49238	D	AEFDBHCI	0.618764	0.60445	D	0.106328015982652	0.46757	2.91129	0.269645546496012	0.53774	3.544846	0.999999998073154	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.36	4.34	0.51267	4.322000	0.59005	9.456000	0.80855	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.7666:0.2333	12.931	0.57681	699	0.57969	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1072.43	33	chr16	14629657	.	G	A	1072.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=414;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=-0.576;SOR=0.893	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1199	9	0	1	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	139.1	97	chr16	14667707	.	GCCCC	G	139.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.012;DP=465;ExcessHet=0.2348;FS=59.818;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.935;SOR=6.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1047:.	8	0	2	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGG:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	140.33	97	chr16	14667711	.	C	CGGGG	140.33	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.377;DP=490;ExcessHet=0.2348;FS=59.818;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.75;ReadPosRankSum=0.95;SOR=6.202	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:58:.:.:0,58,784:.	7	0	2	1
chr16	14857532	14857532	G	A	exonic	NOMO1;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon11:c.G1097A:p.R366H,NOMO1:NM_014287:exon11:c.G1097A:p.R366H	.	435	1084	3	0	0	3	0.00138185	.	.	.	4020830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.238	0.0182143103975	0.0018	0.000599042	0.0019	0.0006	0.0024	0	0.0005	0.0022	0.0057	0.0023	7.76e-05	12	154602	rs137963033	0.0020	0.0020	0.0019	0.0020	0.0030	0.0019	0.0019	0.0027	0.0026	0.0004	0.0022	0.0016	2.52e-05	0.0005	0.0014	0.0021	0.0019	0.0030	0.0012	0.0012	0.0013	0.0012	0.0026	0.0011	0.0010	0.0015	0.0013	0.0004	0	0.0017	0.0026	0	0.0004	0.0034	0.0016	0.0020	0.0026	0.424	0.09717	T	0.092	0.53426	T	0.985	0.61118	D	0.782	0.57384	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.34	0.67151	M	0.81	0.48460	T	-1.2	0.30555	N	0.886	0.88466	-0.6886	0.60973	T	0.213	0.57441	T	10	0.09538543	0.17033	T	0.018214	0.40197	T	0.238	0.54217	.	.	0.454238212503	0.45050	0.35187474594162793	0.35101	.	.	0.793433129787	0.80965	T	0.011465	0.20529	T	-0.329329	0.06162	T	-0.249513	0.49865	T	0.0784773671976458	0.09791	T	0.983102	0.94254	D	0.18316934	0.39571	0.12872668	0.30965	0.18316934	0.39571	0.12872668	0.30964	-4.389	0.29408	T	.	.	0.139	0.34116	B	.;.;.	.;.;.	4.920167	0.81031	27.5	0.99907126626179954	0.97726	0.97954	0.78397	D	AEFI	0.786371	0.71647	D	0.562222044573942	0.70828	5.55943	0.499381115073937	0.67949	5.153137	0.98438979290107	0.30709	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.31	3.31	0.37025	9.260000	0.94752	9.816000	0.81775	0.246000	0.18300	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	12.521	0.55403	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003793	0.000000	0.004144	0.000000	0.000000	0.000000	0.000000	0.004386	0.05	2874.43	232	chr16	14857532	.	G	A	2874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.93;DP=560;ExcessHet=0;FS=5.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.44;MQRankSum=-1.09;QD=12.39;ReadPosRankSum=-0.232;SOR=1.038	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr16	15092583	15092583	A	T	exonic	RRN3	.	nonsynonymous SNV	RRN3:NM_001301064:exon2:c.T121A:p.F41I,RRN3:NM_018427:exon2:c.T121A:p.F41I	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.1119176956	0.0009	0.000399361	0.0011	9.654e-05	0.0004	0	0.0032	0.0013	0.0033	0.0012	0.0009702	150	154602	rs150087182	0.0013	0.0014	0.0013	0.0014	0.0016	0.0013	0.0013	0.0014	0.0014	5.977e-05	0.0006	0	0	0.0025	0.0012	0.0014	0.0010	0.0016	0.0009	0.0009	0.0009	0.0009	0.0017	0.0008	0.0008	0.0012	0.0011	7.213e-05	0	0.0003	0	0	0.0028	0	0.0014	0	0.0017	0.066	0.58626	T	0.016	0.92824	D	0.999	0.77913	D	0.996	0.84481	D	0.000033	0.55875	U	0.073760	1	0.81001	D	0.695	0.17993	N	0.78	0.64818	T	-1.42	0.46146	N	0.665	0.72299	-0.7596	0.57427	T	0.246	0.61506	T	10	0.018967181	0.00418	T	0.111918	0.78987	D	0.267	0.58126	.	.	0.729076668298	0.72667	0.6555393035927279	0.65489	0.82004380944	0.67116	0.568011641502	0.48396	T	0.129067	0.45712	T	-0.259441	0.12965	T	-0.15223	0.59046	T	0.0541908414942471	0.06222	T	0.834417	0.50357	T	0.13936517	0.32196	0.09549961	0.22653	0.13936517	0.32196	0.09549961	0.22653	-3.409	0.17467	T	.	.	0.161	0.35540	B	.;.;.;.;.	.;.;.;.;.	4.095015	0.61022	24.3	0.98562150874574928	0.42986	0.98806	0.87096	D	AEBI	0.822867	0.74310	D	0.247532225416644	0.53517	3.520188	0.267095466191024	0.53627	3.530811	0.999999981709966	0.74766	0.736574	0.97449	0	0.662677	0.63036	0	0.732669	0.93749	0	0.651492	0.60203	0	.	.	3.78	3.78	0.42629	7.440000	0.79607	7.917000	0.74325	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	1.0:0.0:0.0:0.0	12.014	0.52594	588	0.69043	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001825	0.000000	0.000000	0.000000	0.000000	0.008929	0.000000	0.008547	0.1	1672.14	37	chr16	15092583	.	A	T	1672.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.821;DP=432;ExcessHet=0.2348;FS=1.353;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.96;MQRankSum=-0.214;QD=11.45;ReadPosRankSum=0.878;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	8	0	2	0
chr16	15363700	15363700	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C1012A:p.L338I	.	477	1029	3	0	13	16	0.0014556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.0505192	2.003e-05	0	0	0.0002	0	1.746e-05	0	0	0.0097203	253	26028	rs527823489	5.255e-05	0.0002	4.093e-05	6.428e-05	0.0007	4.223e-05	3.869e-05	0.0004	0.0003	3.2e-05	0.0002	0	0.0007	5.98e-05	0	2.624e-05	7.646e-05	0.0001	0.0004	0.0022	0.0004	0.0004	0.0007	0.0003	0.0003	0.0004	0.0003	0.0003	0	0.0002	0.0006	0.0007	0.0006	0	0.0005	0	0.0005	0.233	0.18122	T	0.309	0.19782	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.84	0.01504	N	0.81	0.48460	T	-0.55	0.16799	N	0.131	0.12627	-1.0168	0.24755	T	0.057	0.23866	T	4	0.002976656	0.00048	T	.	.	.	0.047	0.12962	.	.	0.138757226776	0.13463	0.004372647717961943	0.00411	0.915822070405	0.71238	.	.	.	0.001687	0.01111	T	-0.306415	0.08069	T	-0.677921	0.07111	T	0.018812470270739	0.00592	T	0.285071	0.05059	T	0.12543179	0.29405	0.07566399	0.16681	0.12543179	0.29404	0.07566399	0.16681	-4.525	0.31214	T	.	.	0.089	0.12276	B	.	.	-0.234146	0.02921	0.425	0.75929779573027789	0.11266	0.00194	0.01121	N	AEFI	0.047871	0.08110	N	-0.687684925856888	0.16372	0.8335252	-0.791889517941179	0.14694	0.769087	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	-1.271000	0.02936	-10.382000	0.00708	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	642.47	33	chr16	15363700	.	G	T	642.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=465;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.05;MQ=53.28;MQRankSum=-7.718;QD=6.49;ReadPosRankSum=-3.985;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1073:.	9	0	1	0
chr16	15363708	15363709	AC	-	exonic	NPIPA5	.	stoploss	NPIPA5:NM_001277325:exon8:c.1003_1004del:p.R89_90insRSNCRRQEGIKIVLEDIFTLWRQVETKVRAKIRKMKVTTKVNRHDKINGKRKTAKEHLRKLSMKEREHGEKERQVSEAEENGKLDMKEIHTYMEMFQRAQALRRRAEDYYRCKITPSARKPLCNRVRMAAVEHRHSSGLPYWPYLTAETLKNRMGHQPPPPTQQHSIIDNSLSLKTPSERLLYPLPPSADDNLKTPPECLLTPLPPSALPSADDNLKTPAECLLTPLPPSAPPSADDNLKTPPECLLTPLPPSADDNLKKLMKNK*	.	474	1035	9	3	1	16	0.00719424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.985e-05	0	0	0.0004	0	3.475e-05	0	0.0003	3.84e-05	1	26028	rs762895556	7.11e-05	0.0002	7.074e-05	7.146e-05	0.0009	5.928e-05	5.502e-05	0.0006	0.0005	0	0.0003	4.439e-05	0.0009	5.932e-05	0	4.347e-05	5.664e-05	0.0001	0.0005	0.0026	0.0005	0.0005	0.0015	0.0004	0.0004	0.0005	0.0004	0.0004	0	0.0003	0.0006	0.0015	0.0007	0	0.0006	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	991.43	33	chr16	15363707	.	GAC	G	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.74;DP=483;ExcessHet=0;FS=5.2;InbreedingCoeff=-0.0559;MLEAC=1;MLEAF=0.05;MQ=53.77;MQRankSum=-6.47;QD=8.47;ReadPosRankSum=-5.469;SOR=1.206	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1073:.	9	0	1	0
chr16	15363771	15363771	G	T	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.C941A:p.T314N	.	475	1024	12	0	11	23	0.00582524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	0.114018	0.0009	0.0011	0.0014	0	0.0012	0.0011	0	0.0003	0.0039391	609	154602	rs200515084	0.0020	0.0054	0.0018	0.0022	0.0072	0.0019	0.0019	0.0066	0.0063	0.0014	0.0052	0.0026	0.0050	0.0060	0.0033	0.0014	0.0026	0.0072	0.0008	0.0027	0.0010	0.0006	0.0011	0.0007	0.0006	0.0008	0.0007	0.0011	0	0.0011	0.0006	0	0.0005	0	0.0008	0	0	0.285	0.15251	T	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.85	0.47130	T	-2.07	0.47344	N	0.108	0.09349	-1.0053	0.28368	T	0.093	0.35309	T	4	0.0035369694	0.00063	T	.	.	.	0.007	0.00512	.	.	0.110392049598	0.10638	0.007541486687279335	0.00720	1.79356630944	0.91544	.	.	.	0.013126	0.11410	T	-0.27517	0.11187	T	-0.633039	0.10185	T	0.00805360874408913	0.00095	T	0.210079	0.02530	T	0.12149424	0.28567	0.11801673	0.28489	0.12149424	0.28567	0.11801673	0.28489	-7.548	0.57947	D	.	.	0.159	0.35225	B	.	.	-0.040532	0.04009	0.916	0.70897096200238796	0.09447	0.00197	0.01136	N	AEFDI	0.038230	0.05380	N	-0.517686941128063	0.21508	1.141931	-0.658970331887041	0.17990	0.959092	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.271000	0.02936	-4.566000	0.02092	-1.093000	0.01529	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	674.46	197	chr16	15363771	.	G	T	674.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.3;DP=1196;ExcessHet=0;FS=6.176;InbreedingCoeff=-0.0417;MLEAC=2;MLEAF=0.2;MQ=55.93;MQRankSum=-6.136;QD=6.49;ReadPosRankSum=-4.012;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:137,0:137:0:.:.:0,0,1107:.	4	0	1	5
chr16	15363772	15363772	T	A	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.A940T:p.T314S	.	474	1026	11	0	11	22	0.00533204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.114018	0.0010	0.0012	0.0015	0	0.0014	0.0013	0	0.0003	0.0040103	620	154602	rs201420102	0.0022	0.0055	0.0019	0.0024	0.0076	0.0021	0.0021	0.0069	0.0067	0.0016	0.0055	0.0030	0.0058	0.0072	0.0037	0.0016	0.0029	0.0076	0.0015	0.0041	0.0018	0.0012	0.0019	0.0012	0.0011	0.0013	0.0011	0.0018	0	0.0019	0.0009	0.0016	0.0020	0	0.0013	0	0	0.605	0.05551	T	0.184	0.29056	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.995	0.54099	M	0.89	0.45636	T	-1.17	0.29933	N	0.095	0.07535	-1.0213	0.23292	T	0.045	0.19152	T	4	0.0033916235	0.00059	T	.	.	.	0.010	0.01040	0.359	0.36222	0.082315109003	0.07666	0.008228124236654345	0.00787	1.27143699399	0.82279	.	.	.	0.010788	0.09704	T	-0.310364	0.07716	T	-0.683593	0.06767	T	0.0049955497737032	0.00054	T	0.140186	0.01129	T	0.08519536	0.19751	0.07435097	0.16256	0.08519536	0.19751	0.07435097	0.16256	-6.997	0.54012	T	.	.	0.177	0.38587	B	.	.	0.030263	0.04496	1.203	0.36374483596762708	0.02336	0.00068	0.00484	N	AEFDI	0.035273	0.04511	N	-0.712332701270957	0.15675	0.7920261	-0.811466716692036	0.14218	0.7417643	1.64775418838586E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-1.435000	0.02529	-3.306000	0.02890	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	716	0.55970	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	734.46	197	chr16	15363772	.	T	A	734.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=3.55;DP=1197;ExcessHet=0;FS=7.701;InbreedingCoeff=-0.0417;MLEAC=2;MLEAF=0.2;MQ=55.78;MQRankSum=-6.197;QD=6.86;ReadPosRankSum=-4.396;SOR=1.54	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:137,0:137:0:.:.:0,0,1107:.	4	0	1	5
chr16	15363876	15363876	T	A	exonic	NPIPA5	.	nonsynonymous SNV	NPIPA5:NM_001277325:exon8:c.A836T:p.D279V	.	426	1093	3	0	0	3	0.00137049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	.	.	.	0.0064	0.0012	0.0020	0	0.0216	0.0082	0.0105	0.0016	0.0004226	11	26028	rs752982027	0.0006	0.0080	0.0006	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0002	0.0004	0	0	0.0034	0	0.0006	0.0007	0.0002	0.0011	0.0050	0.0010	0.0012	0.0014	0.0010	0.0009	0.0011	0.0011	0.0005	0	0.0007	0.0003	0	0.0037	0	0.0014	0	0	0.486	0.08091	T	0.162	0.31225	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	2.56	0.74772	M	0.26	0.59314	T	-3.61	0.69477	D	0.157	0.16308	-0.9321	0.43829	T	0.169	0.50987	T	4	0.009144902	0.00207	T	.	.	.	0.225	0.52323	.	.	0.043077524339	0.03247	0.029962052812853596	0.02945	2.31341709288	0.96592	.	.	.	0.115638	0.43438	T	-0.451137	0.01112	T	-0.461337	0.26453	T	0.0557330697774887	0.06479	T	0.826617	0.49005	T	0.21010643	0.43298	0.17562784	0.40041	0.21010643	0.43298	0.17562784	0.40040	-7.7	0.59008	D	.	.	0.305	0.53386	B	.	.	1.262547	0.16608	12.65	0.94358312144439171	0.24714	0.00108	0.00689	N	AEFDI	0.048731	0.08346	N	-0.203761394976913	0.32978	1.865948	-0.331036794078318	0.27102	1.501542	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	.	.	.	0.138000	0.15838	-6.083000	0.01502	0.170000	0.17755	0.006000	0.17386	0.000000	0.08366	0.007000	0.07825	.	.	.	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	335.43	676	chr16	15363876	.	T	A	335.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.321;DP=1048;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.84;MQRankSum=-3.541;QD=0.5;ReadPosRankSum=0.892;SOR=0.71	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr16	15615974	15615974	C	T	exonic	MARF1	.	nonsynonymous SNV	MARF1:NM_001184998:exon16:c.G3109A:p.D1037N,MARF1:NM_001184999:exon16:c.G3100A:p.D1034N,MARF1:NM_014647:exon16:c.G3109A:p.D1037N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.00405646511435	8.3e-05	0.000399361	4.24e-05	0.0002	0	0	0	0	0	0.0002	5.17e-05	8	154602	rs368140283	2.01e-05	2.394e-05	1.138e-05	2.898e-05	0.0002	1.394e-05	1.2e-05	8.485e-05	5.78e-05	0.0002	0	4.22e-05	0	0	0.0002	6.513e-06	0.0001	7.84e-05	5.915e-05	5.907e-05	6.427e-05	5.379e-05	0.0002	3.078e-05	2.21e-05	9.551e-05	6.952e-05	0.0002	0	0	0	0	0	0	0	0	0.0002	0.172	0.22660	T	0.258	0.23845	T	.	.	.	.	.	.	0.050087	0.23103	N	0.485483	0.800514	0.42341	D	1.59	0.40313	L	.	.	.	-1.39	0.34397	N	0.279	0.31590	-0.9036	0.47606	T	0.163	0.49864	T	9	0.14400542	0.27335	T	0.004056	0.09650	T	0.227	0.52620	.	.	0.171220215726	0.16700	0.18883747213052474	0.18801	0.634517071315	0.57304	0.322781205177	0.13842	T	0.031678	0.22152	T	-0.394979	0.02497	T	-0.512987	0.21008	T	0.0892833322286606	0.11132	T	0.915608	0.69895	D	0.052035686	0.09645	0.06337761	0.12544	0.052035686	0.09645	0.06337761	0.12544	-3.371	0.14882	T	.	.	0.065	0.01934	B	.;.;.;.	.;.;.;.	2.894404	0.38345	20.7	0.99506277908771923	0.68322	0.90501	0.51730	D	AEFBCI	0.574679	0.57737	D	0.00420919677695771	0.42047	2.526099	0.10738762513524	0.44925	2.764973	0.999999873023898	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	5.705000	0.68009	2.765000	0.34631	0.599000	0.40250	1.000000	0.71638	0.921000	0.28324	0.962000	0.52141	0.0:1.0:0.0:0.0	18.216	0.89823	668	0.61153	OST-HTH/LOTUS domain;OST-HTH/LOTUS domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	796.43	38	chr16	15615974	.	C	T	796.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.17;DP=400;ExcessHet=0;FS=9.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=0.516;SOR=1.695	GT:AD:DP:GQ:PL	0/1:59,32:91:99:808,0,1393	9	0	1	0
chr16	16202120	16202120	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon9:c.G1057A:p.A353T,ABCC6:NM_001351800:exon9:c.G715A:p.A239T	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	2326261	Inborn_genetic_diseases|ABCC6-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.673	0.188291925368	.	.	1.657e-05	0	0	0.0001	0	1.508e-05	0	0	1.29e-05	2	154602	rs774051128	3.489e-05	3.489e-05	3.948e-05	3.026e-05	4.473e-05	2.697e-05	2.438e-05	3.171e-05	2.836e-05	2.988e-05	4.473e-05	0	0	0	0	4.137e-05	3.312e-05	0	5.919e-05	5.91e-05	5.142e-05	6.731e-05	7.35e-05	3.08e-05	2.212e-05	2.846e-05	1.858e-05	7.25e-05	0	0	0	0	0	0	7.35e-05	0.0005	0	0.252	0.17014	T	0.274	0.79402	T	0.999	0.77913	D	0.919	0.65474	D	0.000392	0.44960	U	0.000000	0.999999	0.58761	D	2.315	0.66250	M	-2.65	0.90210	D	-1.58	0.38151	N	0.71	0.71321	0.601	0.91919	D	0.801	0.93277	D	10	0.8544613	0.84637	D	0.188292	0.85992	D	0.673	0.87917	0.639	0.77579	0.896066994403	0.89503	0.5415292122337574	0.54077	0.27866825025	0.30350	0.440644264221	0.30664	T	0.372808	0.73692	T	0.0422189	0.57335	T	0.00439597	0.70620	D	0.728581786155701	0.42136	D	0.848415	0.52967	T	0.22963	0.45704	0.32307294	0.58242	0.22963	0.45704	0.32307294	0.58241	-6.843	0.54962	T	0.3802779445111437	0.47479	0.147	0.32493	B	.;.	.;.	4.075215	0.60581	24.2	0.99815146033655189	0.89885	0.94283	0.60675	D	AEFGBI	0.716216	0.66812	D	0.361056504760059	0.59325	4.111067	0.248552932128243	0.52566	3.430739	0.999498416072276	0.40007	0.559995	0.30671	0	0.624146	0.53433	0	0.657636	0.52715	0	0.542086	0.14980	0	.	.	4.16	4.16	0.48138	7.197000	0.77336	1.722000	0.28267	0.585000	0.30472	1.000000	0.71638	0.914000	0.28189	0.262000	0.23568	0.0:1.0:0.0:0.0	13.457	0.60653	895	0.25842	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1343.43	38	chr16	16202120	.	C	T	1343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=430;ExcessHet=0;FS=5.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.54;MQRankSum=0.521;QD=11.29;ReadPosRankSum=-1.7;SOR=1.22	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1328	9	0	1	0
chr16	16214437	16214437	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon5:c.G487A:p.D163N,ABCC6:NM_001351800:exon5:c.G145A:p.D49N	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	377120	Pseudoxanthoma_elasticum,_forme_fruste|not_provided|not_specified|Arterial_calcification,_generalized,_of_infancy,_2|Autosomal_recessive_inherited_pseudoxanthoma_elasticum	MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608|MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.194	.	0.0077	0.00978435	0.0043	0.0369	0.0049	0	0	0.0001	0.0052	0.0001	0.0013195	204	154602	rs192110266	0.0009	0.0009	0.0010	0.0008	0.0301	0.0009	0.0009	0.0285	0.0279	0.0301	0.0025	0	0	0	0.0018	7.414e-05	0.0024	0.0002	0.0087	0.0088	0.0088	0.0085	0.0292	0.0083	0.0081	0.0278	0.0273	0.0292	0	0.0056	0	0	0	0.0034	0.0001	0.0067	0	0.065	0.36310	T	0.056	0.79402	T	1.0	0.90584	D	0.874	0.62049	P	0.038117	0.24322	U	0.280095	0.903571	0.36231	D	2.8	0.81625	M	0.77	0.49642	T	-3.56	0.68880	D	0.365	0.40665	-0.5870	0.65340	T	0.135	0.45029	T	10	0.00690341	0.00157	T	.	.	.	0.194	0.47447	.	.	0.775907783384	0.77384	0.3303595977899473	0.32948	1.4416008843	0.85986	0.42518723011	0.28550	T	0.416484	0.76942	T	-0.419493	0.01723	T	-0.352352	0.38936	T	0.0386368145098795	0.03444	T	0.823618	0.48435	T	0.15747263	0.35480	0.18213718	0.41121	0.13218369	0.30787	0.17699212	0.40270	-5.095	0.37855	T	.	.	0.095	0.14933	B	.;.	.;.	4.034639	0.59692	24.1	0.99832029884424944	0.91370	0.94465	0.61253	D	AEFBI	0.514097	0.54161	D	0.391854008095717	0.60981	4.293237	0.240741220416007	0.52124	3.38945	0.999899408751099	0.45129	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	5.333000	0.65692	2.103000	0.30614	0.599000	0.40250	0.999000	0.42656	0.970000	0.29701	0.658000	0.32913	0.0:1.0:0.0:0.0	13.213	0.59264	906	0.23090	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002688	0.008333	0.004573	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	650.12	31	chr16	16214437	.	C	T	650.12	.	AC=2;AF=0.1;AN=20;DP=288;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=45.65;QD=28.27;SOR=1.426	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,571	9	1	0	0
chr16	16273795	16273795	A	G	exonic	NOMO2;NOMO3	.	nonsynonymous SNV	NOMO3:NM_001004067:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	95	129	0	2	0	4	0.0152672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0348921807291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409485748	0.0008	0.0008	0.0008	0.0009	0.0079	0.0008	0.0008	0.0052	0.0043	6.898e-05	0.0003	0.0015	0	2.912e-05	0.0079	0.0006	0.0012	0.0036	0.0005	0.0005	0.0010	0	0.0021	0	0	.	.	0	0	0	0	0	0	0	0.0021	0	0	0.161	0.26300	T	0.013	0.63918	D	0.982	0.60036	D	0.715	0.54683	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.645	0.65844	-1.0958	0.04639	T	0.029	0.12234	T	10	0.10128394	0.18495	T	0.034892	0.55985	D	0.160	0.41473	0.263	0.20788	0.438593652726	0.43481	0.6076498977789883	0.60696	.	.	0.603942036629	0.53460	T	0.004737	0.09303	T	-0.356739	0.04318	T	-0.289822	0.45792	T	0.0926210135221481	0.11525	T	0.956104	0.83363	D	0.25034335	0.48035	0.16223365	0.37694	0.25034335	0.48035	0.16223365	0.37693	-5.107	0.37981	T	.	.	0.197	0.44384	B	.;.	.;.	3.155044	0.42722	21.6	0.98146118154868234	0.38647	0.77618	0.38184	D	AEFI	0.480565	0.52223	N	-0.161683254739873	0.34739	1.986566	-0.197022269048362	0.31645	1.792881	1.26429308109368E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	4.2	0.192	0.14415	1.099000	0.30625	2.008000	0.30152	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.5178:0.4822:0.0:0.0	11.619	0.50367	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	99.89	5	chr16	16273795	.	A	G	99.89	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.28;DP=49;ExcessHet=0;FS=6.99;MLEAC=2;MLEAF=0.143;MQ=25.41;MQRankSum=0.253;QD=19.98;ReadPosRankSum=-1.282;SOR=3.229	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,34	6	1	0	3
chr16	17470643	17470643	C	T	exonic	XYLT1	.	nonsynonymous SNV	XYLT1:NM_022166:exon1:c.G154A:p.G52S	Desbuquois dysplasia 2, Autosomal recessive	335	1186	1	0	0	1	0.000421408	.	.	.	573744	XYLT1-related_disorder|not_provided|Desbuquois_dysplasia_1	.|MedGen:C3661900|MONDO:MONDO:0009629,MedGen:C4012146,OMIM:251450,Orphanet:1425	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.027	.	.	.	0.0083	0	0	0	0	0	0	0.0108	0.0001423	22	154602	rs766521030	0.0014	0.0012	0.0014	0.0014	0.0020	0.0014	0.0013	0.0016	0.0015	0.0002	0.0002	0	0	0	0	0.0015	0.0013	0.0020	0.0009	0.0009	0.0010	0.0009	0.0017	0.0008	0.0007	0.0012	0.0012	0.0006	0	0.0002	0	0	0.0001	0	0.0015	0.0005	0.0017	0.2	0.20381	T	0.646	0.06836	T	0.002	0.09854	B	0.0	0.01387	B	0.762402	0.06548	U	1.272680	0.999997	0.08975	N	0	0.06538	N	3.72	0.04014	T	-0.02	0.07299	N	0.074	0.04790	-0.9040	0.47561	T	0.008	0.02720	T	10	0.004581392	0.00095	T	.	.	.	0.027	0.05988	.	.	0.0675242888579	0.06100	0.3027944210675014	0.30192	0.218589782326	0.24401	0.880343794823	0.94006	D	0.011955	0.10589	T	-0.644677	0.00078	T	-0.704978	0.05558	T	0.0144837201733808	0.00294	T	.	.	.	0.08412715	0.19459	0.10554958	0.25375	0.08412715	0.19458	0.10554958	0.25375	-5.719	0.43862	T	.	.	0.104	0.18705	B	.	.	2.191441	0.27940	17.63	0.9553868137550926	0.27183	0.03860	0.09219	N	AEFDBHCI	0.040586	0.06057	N	-1.09693957502039	0.06699	0.3091363	-1.12061787919747	0.07306	0.3549148	0.99994262170587	0.47345	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	1.62	0.456	0.15868	0.110000	0.15273	2.751000	0.34535	0.259000	0.18387	0.002000	0.15269	1.000000	0.68203	0.092000	0.17891	0.0:0.7681:0.0:0.2319	4.531	0.11411	968	0.07033	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	383.25	14	chr16	17470643	.	C	T	383.25	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.909;DP=138;ExcessHet=0;FS=7.231;InbreedingCoeff=-0.094;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.417;SOR=1.773	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,292	8	0	1	1
chr16	18520877	18520877	T	C	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon19:c.A2161G:p.R721G,NOMO2:NM_173614:exon19:c.A2161G:p.R721G	.	420	1089	13	0	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.0279802166945	.	.	0.0008	0.0001	0.0002	0	0	0.0007	0.0033	0.0028	3.84e-05	1	26028	rs749051082	0.0005	0.0007	0.0004	0.0005	0.0051	0.0004	0.0004	0.0036	0.0031	5.975e-05	0.0003	0.0008	0	0	0.0051	0.0004	0.0007	0.0021	0.0003	0.0005	0.0004	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.809e-05	0	0.0003	0.0003	0	0	0.0068	0.0005	0.0009	0.0010	0.158	0.26629	T	0.013	0.92824	D	0.014	0.16867	B	0.009	0.14300	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0	0.06538	N	3.64	0.04399	T	-0.95	0.25332	N	0.837	0.86941	-0.7935	0.55526	T	0.013	0.05033	T	10	0.08753258	0.14987	T	0.02798	0.50720	D	0.187	0.46274	.	.	0.31077124679	0.30691	0.6336783096815357	0.63301	.	.	0.594283103943	0.52098	T	0.007539	0.06940	T	-0.347144	0.04909	T	-0.276973	0.47115	T	0.0347181973874079	0.02761	T	0.956104	0.83775	D	0.2227827	0.44885	0.1551629	0.36384	0.2227827	0.44885	0.1551629	0.36383	-5.099	0.41284	T	.	.	0.182	0.42906	B	.;.;.;.;.	.;.;.;.;.	2.522562	0.32602	19.09	0.97507598280086194	0.34331	0.75480	0.36958	D	AEFI	0.455969	0.50803	N	-0.365101523926914	0.26721	1.460499	-0.298532606994092	0.28146	1.567075	5.2496797031966E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	3.37	2.22	0.27116	1.235000	0.32274	1.258000	0.25213	0.319000	0.19345	1.000000	0.71638	1.000000	0.68203	0.651000	0.32720	0.0:0.0:0.1872:0.8128	9.019	0.35351	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001144	0.000000	0.000000	0.000000	0.000000	0.000000	0.003497	0.004000	0.1	2391.14	301	chr16	18520877	.	T	C	2391.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.49;DP=913;ExcessHet=0.2348;FS=2.015;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=32.75;MQRankSum=-0.712;QD=4.19;ReadPosRankSum=1.12;SOR=0.523	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	8	0	2	0
chr16	18533147	18533147	C	T	exonic	NOMO2	.	nonsynonymous SNV	NOMO2:NM_001004060:exon12:c.G1253A:p.R418H,NOMO2:NM_173614:exon12:c.G1253A:p.R418H	.	544	965	13	0	0	13	0.00669068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00559288308923	0.0010	0.000998403	0.0013	0.0002	0.0006	0	0	0.0018	0.0022	0.0016	0.0011255	174	154602	rs140359200	0.0017	0.0017	0.0017	0.0018	0.0075	0.0017	0.0017	0.0054	0.0047	0.0003	0.0007	0.0024	2.52e-05	0	0.0075	0.0019	0.0018	0.0020	0.0011	0.0011	0.0012	0.0010	0.0023	0.0010	0.0009	0.0015	0.0014	0.0002	0.0132	0.0003	0.0023	0	0	0	0.0018	0.0010	0.0023	0.211	0.21066	T	0.202	0.39492	T	0.014	0.16867	B	0.005	0.11217	B	0.000002	0.62929	D	0.060274	0.999995	0.58761	D	1.43	0.35840	L	3.68	0.04228	T	-1.19	0.30346	N	0.256	0.32148	-0.9780	0.35458	T	0.012	0.04558	T	10	0.0067940354	0.00154	T	0.005593	0.14439	T	0.074	0.21613	.	.	0.229264304666	0.22521	0.41393095197811686	0.41309	.	.	0.525905013084	0.42458	T	0.013152	0.11431	T	-0.516583	0.00460	T	-0.521288	0.20164	T	0.0300199047512515	0.01993	T	0.919208	0.70896	D	0.07670785	0.17367	0.046924885	0.06647	0.07670785	0.17366	0.046924885	0.06647	-7.14	0.57017	T	.	.	0.071	0.04517	B	.;.;.;.;.	.;.;.;.;.	3.429104	0.47650	22.5	0.98519515028065607	0.42447	0.92172	0.55105	D	AEFI	0.648077	0.62302	D	-0.251513117481904	0.31044	1.736803	-0.156545236330313	0.33157	1.893783	3.23886481115548E-4	0.06540	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	2.75	2.75	0.31439	4.178000	0.58079	4.843000	0.45303	0.291000	0.18778	1.000000	0.71638	1.000000	0.68203	0.788000	0.37229	0.0:0.8713:0.0:0.1287	7.249	0.25310	940	0.13648	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003567	0.000000	0.005479	0.004310	0.000000	0.000000	0.000000	0.008264	0.05	4317.43	33	chr16	18533147	.	C	T	4317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.054;DP=661;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.51;MQRankSum=1.46;QD=13.04;ReadPosRankSum=2.31;SOR=0.82	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	9	0	1	0
chr16	18811992	18811992	G	C	exonic	SMG1	.	nonsynonymous SNV	SMG1:NM_015092:exon61:c.C10757G:p.A3586G	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00354229451885	8.4e-05	.	6.627e-05	0	0	0	0.0002	0.0001	0	0	5.17e-05	8	154602	rs201156254	6.157e-05	6.156e-05	6.262e-05	6.051e-05	0.0005	5.095e-05	4.716e-05	0.0001	7.544e-05	0.0001	4.473e-05	0	0	1.873e-05	0.0005	6.835e-05	4.969e-05	0	0.0001	0.0001	0.0001	0.0002	0.0007	9.15e-05	7.705e-05	0.0004	0.0003	2.414e-05	0	0.0007	0	0	0	0	0.0001	0	0	0.214	0.19361	T	.	.	.	0.034	0.20480	B	0.016	0.17743	B	0.000002	0.62929	D	0.000000	0.547676	0.31360	N	1.5	0.37844	L	5.21	0.01198	T	-1.02	0.26843	N	0.201	0.22228	-0.9759	0.35926	T	0.004	0.01365	T	10	0.0981774	0.17733	T	0.003542	0.08062	T	0.187	0.46274	.	.	0.143184338766	0.13958	0.20291633052719127	0.20208	0.308008756825	0.33102	0.422061920166	0.28120	T	0.029011	0.20885	T	-0.322784	0.06672	T	-0.521138	0.20180	T	0.0719474593290704	0.08921	T	0.891311	0.62583	D	0.06711742	0.14505	0.11433975	0.27600	0.06711742	0.14505	0.11433975	0.27599	-4.065	0.24772	T	.	.	0.079	0.07412	B	.;.	.;.	2.659829	0.34646	19.69	0.97023356935943084	0.32034	0.96221	0.68092	D	AEFBI	0.394924	0.47199	N	0.0368107363664567	0.43537	2.644671	0.250948268204857	0.52705	3.443413	0.999980687239351	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.419000	0.52486	7.607000	0.61769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1394:0.0:0.8606:0.0	10.874	0.46108	237	0.90758	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1364.43	33	chr16	18811992	.	G	C	1364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.257;DP=621;ExcessHet=0;FS=5.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-3.055;SOR=0.552	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	9	0	1	0
chr16	18872498	18872498	T	A	exonic	SMG1	.	nonsynonymous SNV	SMG1:NM_015092:exon14:c.A2017T:p.T673S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0171625547835	.	.	6.013e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs746044372	7.915e-06	8.209e-06	7.129e-06	8.716e-06	1.01e-05	4.25e-06	3.11e-06	5.42e-06	3.96e-06	0	0	0	0	0	0	1.01e-05	0	0	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.886	0.45393	T	.	.	.	0.001	0.07471	B	0.002	0.06944	B	0.000108	0.50451	D	0.073775	0.945124	0.37475	D	0.72	0.18721	N	-0.07	0.63738	T	0.23	0.48184	N	0.152	0.15609	-0.9792	0.35186	T	0.100	0.37060	T	10	0.13971007	0.26562	T	0.017163	0.38744	T	0.084	0.24469	0.179	0.08626	0.368394457434	0.36455	0.1502858191973894	0.14950	0.404479960901	0.41350	0.579424142838	0.50004	T	0.019	0.15156	T	-0.0808285	0.39581	T	-0.353881	0.38760	T	0.396940797567368	0.28827	T	0.780122	0.41468	T	0.2329623	0.46093	0.13800576	0.32971	0.2329623	0.46093	0.13800576	0.32970	-2.982	0.09988	T	.	.	0.119	0.24363	B	.;.	.;.	2.912572	0.38636	20.8	0.82223544045907015	0.14081	0.91392	0.53441	D	AEFBI	0.563069	0.57041	D	-0.290331366540625	0.29521	1.637803	-0.0232135301993697	0.38668	2.281512	0.570052790126873	0.21485	0.651	0.46895	0	0.653731	0.59785	0	0.575934	0.27490	0	0.683762	0.67416	0	.	.	5.63	5.63	0.86108	6.183000	0.71936	7.910000	0.73981	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.138:0.0:0.0:0.862	11.876	0.51829	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	422.43	38	chr16	18872498	.	T	A	422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.76;DP=307;ExcessHet=0;FS=1.317;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.19;MQRankSum=0.056;QD=12.42;ReadPosRankSum=-0.175;SOR=0.473	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,657	9	0	1	0
chr16	19477498	19477498	G	A	exonic	TMC5	.	nonsynonymous SNV	TMC5:NM_024780:exon9:c.G1411A:p.V471M,TMC5:NM_001308161:exon12:c.G1993A:p.V665M,TMC5:NM_001105248:exon13:c.G2149A:p.V717M,TMC5:NM_001105249:exon13:c.G2149A:p.V717M,TMC5:NM_001261841:exon13:c.G2149A:p.V717M	.	.	.	.	.	.	.	.	.	.	.	3343147	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.0931693974288	.	.	2.536e-05	9.643e-05	0	0	0	1.516e-05	0	6.991e-05	3.88e-05	6	154602	rs769075056	1.44e-05	1.505e-05	1.501e-05	1.378e-05	0.0007	9.25e-06	7.85e-06	0.0002	0.0001	0.0002	0	0	0	0	0.0007	6.303e-06	3.318e-05	1.168e-05	2.629e-05	2.627e-05	0	5.382e-05	7.239e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.239e-05	0	0	0	0	0	0	1.47e-05	0	0	0.003	0.72154	D	0.004	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.997895	0.44295	D	2.865	0.83145	M	-0.33	0.72785	T	-2.43	0.53258	N	0.517	0.58117	0.161	0.85240	D	0.537	0.82907	D	9	0.377331	0.53931	T	0.093169	0.76024	D	0.509	0.78910	.	.	0.597732455086	0.59452	0.5597730924617825	0.55904	0.519446559066	0.49770	0.589680075645	0.51448	T	0.104247	0.45277	T	0.0573424	0.59280	T	-0.0547781	0.66695	D	0.623257410450222	0.37340	D	0.960404	0.85096	D	0.21651863	0.44112	0.3470793	0.60368	0.21651863	0.44112	0.3470793	0.60367	-9.946	0.73588	D	.	.	0.228	0.46061	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.798185	0.77929	26.8	0.99881589889273825	0.95733	0.94342	0.60860	D	AEFDBI	0.654225	0.62698	D	0.616576533106642	0.74222	6.096215	0.520111323801675	0.69344	5.347048	0.999993807488572	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.33	4.33	0.51083	5.784000	0.68638	7.486000	0.59313	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	16.753	0.85351	583	0.69484	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1037.43	36	chr16	19477498	.	G	A	1037.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.126;DP=406;ExcessHet=0;FS=1.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.634;SOR=0.872	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,967	9	0	1	0
chr16	19521765	19521765	G	C	exonic	GDE1	.	nonsynonymous SNV	GDE1:NM_001324067:exon1:c.C200G:p.A67G,GDE1:NM_016641:exon1:c.C200G:p.A67G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00654517435627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	0	2.755e-06	0.0003	2.3e-07	9e-08	6.109e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17643	T	0.275	0.22016	T	0.22	0.30288	B	0.092	0.30031	B	0.000001	0.84330	D	0.000000	0.564521	0.32241	D	1.525	0.38595	L	2.77	0.11407	T	-0.42	0.14193	N	0.497	0.53006	-1.0602	0.11706	T	0.025	0.10688	T	10	0.13661453	0.25992	T	0.006545	0.17243	T	0.071	0.20720	0.403	0.43408	0.17258766438	0.16869	0.7976531017478665	0.79718	0.216946985338	0.24212	0.409071028233	0.26328	T	0.031281	0.21970	T	-0.175941	0.24341	T	-0.490503	0.23338	T	0.318900674581528	0.25777	T	0.932807	0.74830	D	0.15973319	0.35866	0.24822491	0.50369	0.15973319	0.35865	0.24822491	0.50368	-4.064	0.24757	T	.	.	0.162	0.35746	B	.	.	2.088700	0.26572	17.16	0.98652851427256771	0.44220	0.34932	0.25184	N	ALL	0.201081	0.32776	N	-0.337791809291124	0.27723	1.523366	-0.276746366106922	0.28866	1.612787	0.999999999814558	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.02	3.06	0.34374	0.132000	0.15716	3.029000	0.36034	0.676000	0.76740	0.311000	0.25423	1.000000	0.68203	0.983000	0.59808	0.172:0.193:0.635:0.0	6.099	0.19262	463	0.78548	Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	934.43	36	chr16	19521765	.	G	C	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.226;DP=387;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.236;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,881	9	0	1	0
chr16	20373106	20373106	C	A	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon6:c.G698T:p.R233L	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0142129705642	0.0022	0.00179712	0.0016	0.0007	0.0016	0	0	0.0022	0	0.0011	0.0016429	254	154602	rs141043720	0.0026	0.0026	0.0027	0.0025	0.0029	0.0025	0.0025	0.0028	0.0028	0.0006	0.0027	0.0041	0	0.0002	0.0021	0.0029	0.0036	0.0008	0.0022	0.0022	0.0021	0.0022	0.0045	0.0020	0.0019	0.0037	0.0033	0.0010	0	0.0045	0.0055	0	9.43e-05	0	0.0027	0.0043	0.0017	0.417	0.09927	T	0.658	0.06554	T	0.006	0.13644	B	0.008	0.13708	B	0.054324	0.22734	N	0.498124	0.73755	0.29767	N	1.98	0.53716	M	1.47	0.31987	T	-1.66	0.39692	N	0.424	0.46368	-1.0841	0.06572	T	0.040	0.17319	T	10	0.010000765	0.00224	T	0.014213	0.34172	T	0.047	0.12962	.	.	0.381239546501	0.37731	0.7327345035719722	0.73218	0.106597910397	0.12050	0.372932136059	0.21252	T	0.00379	0.03201	T	-0.499173	0.00578	T	-0.495042	0.22864	T	0.0161349629279246	0.00390	T	0.79822	0.44280	T	0.15680262	0.35366	0.10329144	0.24779	0.15680262	0.35366	0.10329144	0.24778	-2.004	0.03196	T	.	.	0.243	0.47784	B	.	.	2.881232	0.38127	20.7	0.72555988300699381	0.10014	0.56367	0.30099	D	AEFHI	0.115195	0.22659	N	-0.259018074927117	0.30745	1.717192	-0.140302812595262	0.33784	1.936184	0.00450493708491616	0.10591	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	3.8	0.42887	1.260000	0.32571	3.067000	0.36184	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.946000	0.48989	0.2293:0.7707:0.0:0.0	9.349	0.37291	802	0.44336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.010101	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1577.43	36	chr16	20373106	.	C	A	1577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.95;DP=445;ExcessHet=0;FS=4.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.85;SOR=1.11	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1155	9	0	1	0
chr16	20384837	20384837	T	C	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon3:c.A217G:p.K73E	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00316943343908	0.0002	.	0.0002	0	0	0	0	0.0002	0.0011	0.0007	0.0001488	23	154602	rs146719463	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0013	0.0011	2.987e-05	4.472e-05	0	0	0	0.0023	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	9.4e-05	0.0008	7.086e-05	5.744e-05	0.0003	0.0002	2.407e-05	0	0	0	0	0	0	0.0002	0	0.0008	0.019	0.50132	D	0.163	0.31125	T	0.959	0.55135	D	0.718	0.54779	P	0.003305	0.35125	N	0.313542	1	0.08975	N	1.61	0.41143	L	4.0	0.13434	T	-0.67	0.19297	N	0.301	0.34012	-1.0492	0.14621	T	0.018	0.07612	T	10	0.044784635	0.03475	T	0.003169	0.06936	T	0.089	0.25827	.	.	0.256283259241	0.25257	0.45274535624881207	0.45192	0.157787249233	0.17821	0.430652797222	0.29297	T	5.49E-4	0.24567	T	-0.383534	0.02959	T	-0.424533	0.30557	T	0.0700232070453048	0.08654	T	0.60154	0.22486	T	0.20148239	0.42160	0.28050655	0.54026	0.20148239	0.42160	0.28050655	0.54025	-2.669	0.07046	T	.	.	0.117	0.43855	B	.;.	.;.	2.467791	0.31802	18.85	0.9959052626606284	0.73572	0.05012	0.10790	N	AEFBI	0.050375	0.08799	N	-0.173012869334018	0.34262	1.953457	-0.320193573005895	0.27446	1.523074	0.637372319325609	0.22022	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	3.17	0.35510	0.996000	0.29320	1.788000	0.28774	0.665000	0.62972	0.135000	0.23427	0.989000	0.31174	0.833000	0.39279	0.0:0.1758:0.0:0.8242	7.110	0.24561	809	0.43032	Thioredoxin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	930.43	41	chr16	20384837	.	T	C	930.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=405;ExcessHet=0;FS=0.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-1.7;SOR=0.795	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	9	0	1	0
chr16	20564784	20564784	C	T	exonic	ACSM2B	.	nonsynonymous SNV	ACSM2B:NM_001105069:exon2:c.G62A:p.R21H,ACSM2B:NM_182617:exon3:c.G62A:p.R21H	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0036	0.0105831	0.0061	0.0119	0.0019	0.0058	0	0.0001	0.0090	0.0330	0.0052587	813	154602	rs141648973	0.0025	0.0025	0.0017	0.0033	0.0303	0.0024	0.0024	0.0294	0.0290	0.0123	0.0013	3.833e-05	0.0029	3.746e-05	0.0024	0.0001	0.0036	0.0303	0.0050	0.0050	0.0046	0.0054	0.0324	0.0047	0.0046	0.0283	0.0267	0.0129	0	0.0014	0	0.0039	0	0	8.824e-05	0.0076	0.0324	0.557	0.12265	T	0.464	0.12456	T	0.006	0.13644	B	0.002	0.06944	B	0.722540	0.09923	N	0.849759	1	0.08975	N	0.795	0.19620	N	0.9	0.49642	T	-0.57	0.28497	N	0.132	0.12770	-1.0316	0.19937	T	0.036	0.15378	T	10	0.0035841167	0.00065	T	.	.	.	0.024	0.04979	.	.	0.0884992946249	0.08302	0.24355194033462457	0.24269	1.23226462855	0.81389	0.194776266813	0.00321	T	0.004894	0.13521	T	-0.617153	0.00114	T	-0.636277	0.09943	T	0.000585343836572509	0.00005	T	0.537046	0.18049	T	0.01967222	0.00502	0.022098666	0.00242	0.01967222	0.00502	0.022098666	0.00242	-7.484	0.57498	T	.	.	0.086	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.362894	0.02354	0.256	0.41013316800886629	0.02931	0.00807	0.03278	N	AEFDI	0.083778	0.16974	N	-1.44741600549109	0.02237	0.09857287	-1.50840160827983	0.02279	0.1045679	5.52791813574922E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.27	0.108	0.13853	-0.983000	0.03869	-9.991000	0.00752	-1.537000	0.00985	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.225:0.5133:0.0:0.2617	2.689	0.04799	641	0.64016	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006105	0.000000	0.002740	0.004386	0.000000	0.000000	0.008065	0.025641	0.05	1308.43	68	chr16	20564784	.	C	T	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.502;DP=489;ExcessHet=0;FS=9.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.42;MQRankSum=-1.58;QD=11;ReadPosRankSum=0.525;SOR=0.474	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr16	20790685	20790685	C	G	exonic	ACSM3	.	stopgain	ACSM3:NM_005622:exon10:c.C1323G:p.Y441X	.	424	1084	12	2	0	16	0.00732601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00359425	0.0066	0.0017	0.0029	0	0.0017	0.0097	0.0033	0.0050	0.006727	1040	154602	rs34381224	0.0091	0.0091	0.0092	0.0090	0.0105	0.0089	0.0089	0.0104	0.0103	0.0013	0.0047	0.0069	7.56e-05	0.0022	0.0036	0.0105	0.0093	0.0045	0.0065	0.0065	0.0069	0.0061	0.0103	0.0062	0.0061	0.0097	0.0094	0.0019	0	0.0094	0.0078	0	0.0017	0	0.0103	0.0062	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.313	0.35301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0292339	0.55622	T	0.278611	0.87050	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	8.713335	0.97922	38	0.98337932026192099	0.40408	0.08396	0.14331	N	AEFBI	0.270134	0.38626	N	-0.0769553734905351	0.38405	2.248822	-0.360743647676688	0.26178	1.444286	0.0545945641954599	0.14981	0.638212	0.43195	0	0.670034	0.63936	0	0.731467	0.93227	0	0.567892	0.33627	0	.	.	5.11	0.217	0.14540	-0.043000	0.11996	0.363000	0.17596	-0.114000	0.14653	0.008000	0.17931	0.130000	0.22991	0.723000	0.34869	0.0:0.4224:0.0:0.5776	10.974	0.46668	143	0.94301	AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.000000	0.050000	0.008621	0.003067	0.000000	0.05	1599.43	34	chr16	20790685	.	C	G	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=494;ExcessHet=0;FS=2.107;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-1.36;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	9	0	1	0
chr16	20845219	20845219	C	T	exonic	REXO5	.	nonsynonymous SNV	REXO5:NM_001144924:exon17:c.C2009T:p.P670L,REXO5:NM_001199053:exon18:c.C2102T:p.P701L,REXO5:NM_030941:exon18:c.C2102T:p.P701L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00349264016782	.	.	2.75e-05	0	0	0	0	5.006e-05	0	0	1.94e-05	3	154602	rs142000603	2.054e-05	2.052e-05	2.179e-05	1.927e-05	0.0001	1.457e-05	1.265e-05	3.984e-05	2.374e-05	0.0001	0	0	0	0	0	2.159e-05	1.657e-05	1.162e-05	1.314e-05	1.313e-05	2.569e-05	0	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.539	0.06824	T	0.53	0.10103	T	0.0	0.02946	B	0.0	0.01387	B	0.375133	0.13469	N	0.712848	1	0.08975	N	.	.	.	2.02	0.28391	T	-1.55	0.37566	N	0.106	0.12770	-0.9961	0.31001	T	0.038	0.16246	T	10	0.052197576	0.05217	T	0.003493	0.07908	T	0.018	0.03083	0.443	0.49975	0.117506650769	0.11410	0.19861233141602894	0.19778	0.236198010474	0.26158	0.368113517761	0.20560	T	0.021426	0.16689	T	-0.405925	0.02116	T	-0.690409	0.06365	T	0.0141290202736855	0.00276	T	0.626337	0.24237	T	0.021010142	0.00683	0.029597774	0.01315	0.021010142	0.00683	0.029597774	0.01315	-3.485	0.16223	T	.	.	0.068	0.06617	B	.;.;.	.;.;.	-0.694584	0.01334	0.074	0.40073282988156178	0.02805	0.04043	0.09486	N	AEFDBI	0.024015	0.01422	N	-1.35185626575165	0.03106	0.1382061	-1.32817057691552	0.04070	0.1912109	0.958394461721843	0.28360	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.349732	0.05809	1	.	.	5.3	1.13	0.19758	0.126000	0.15597	-0.346000	0.09780	-2.284000	0.00327	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4851:0.3317:0.1831	5.125	0.14211	143	0.94301	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	950.43	34	chr16	20845219	.	C	T	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=377;ExcessHet=0;FS=2.243;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.999;SOR=0.446	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr16	21117270	21117270	T	A	exonic	DNAH3	.	stopgain	DNAH3:NM_001347886:exon12:c.A1567T:p.K523X,DNAH3:NM_017539:exon12:c.A1747T:p.K583X	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344103	0.13917	N	0.698819	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.171	0.18239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433096	0.91686	D	0.384336	0.91583	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.346328	0.96421	36	0.99118143281297844	0.52906	0.35656	0.25352	N	AEFBHCI	0.089516	0.18143	N	0.278941667058162	0.55082	3.672592	0.0530209007992241	0.42217	2.549788	0.997817644787445	0.36062	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.503917	0.08554	0	.	.	5.39	1.64	0.22949	1.131000	0.31019	1.411000	0.26280	-0.120000	0.14102	0.972000	0.34453	0.966000	0.29516	0.891000	0.42908	0.2897:0.1754:0.0:0.5349	3.511	0.07268	462	0.78611	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	70	chr16	21117270	.	T	A	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=379;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.717;SOR=0.499	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,995	9	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	306.67	2	chr16	21404235	.	GC	G	306.67	.	AC=6;AF=1;AN=6;DP=22;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=28.94;QD=30.22;SOR=4.407	GT:AD:DP:GQ:PL	./.:2,0:2:0:0,0,0	0	3	0	7
chr16	21404765	21404765	G	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	618	885	18	0	1	19	0.0100671	.	.	.	2337856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00120614649931	.	.	0	0	.	0	0	0	.	.	3.84e-05	1	26028	rs768349450	0.0040	0.0047	0.0040	0.0040	0.0119	0.0039	0.0039	0.0090	0.0080	0.0016	0.0027	0.0055	0	0.0016	0.0119	0.0046	0.0044	0.0013	0.0023	0.0019	0.0023	0.0023	0.0043	0.0019	0.0017	0.0024	0.0022	0.0007	0	0.0024	0.0048	0	0.0005	0	0.0031	0	0.0043	0.117	0.28271	T	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	3.47	0.00090	N	0.162	0.17002	-1.0678	0.09903	T	0.075	0.30272	T	6	0.006259799	0.00141	T	0.001206	0.01558	T	0.098	0.28162	.	.	0.043077524339	0.03247	0.0035688599784075687	0.00333	.	.	.	.	.	.	.	.	-0.272049	0.11529	T	-0.628556	0.10525	T	0.0054763198312066	0.00059	T	0.80432	0.45191	T	.	.	.	.	.	.	.	.	-4.837	0.35019	T	.	.	.	.	.	.	.	0.894295	0.12679	9.202	0.97614925085214155	0.34926	0.00074	0.00515	N	AEFI	0.025118	0.01664	N	-0.882074952185781	0.11269	0.5429317	-1.15361354934918	0.06703	0.3235538	2.0115546788153E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	-1.271000	0.02936	-6.280000	0.01443	-1.093000	0.01529	0.016000	0.19238	0.000000	0.08366	0.021000	0.11733	.	.	.	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011662	0.011905	0.000000	0.041667	0.000000	0.000000	0.000000	0.024390	0.05	886.43	52	chr16	21404765	.	G	A	886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.29;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=29.28;MQRankSum=-3.567;QD=8.06;ReadPosRankSum=1.29;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr16	21836303	21836303	A	G	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.T2084C:p.I695T,NPIPB4:NM_001384979:exon8:c.T2084C:p.I695T,NPIPB4:NM_001384980:exon8:c.T2084C:p.I695T,NPIPB5:NM_001135865:exon9:c.T1943C:p.I648T,NPIPB4:NM_001384981:exon9:c.T2075C:p.I692T,NPIPB4:NM_001384982:exon9:c.T2027C:p.I676T,NPIPB3:NM_130464:exon10:c.T2069C:p.I690T	.	771	749	2	0	0	2	0.00133333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0938210975575	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1170398687	0.0014	0.0013	0.0011	0.0017	0.0064	0.0013	0.0013	0.0058	0.0055	0.0015	0.0028	0.0011	3.521e-05	0	0.0047	0.0007	0.0018	0.0064	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.0	0.91255	D	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.78	0.25678	T	-0.65	0.18877	N	0.186	0.20262	-0.8833	0.49497	T	0.083	0.32642	T	4	0.09875676	0.17877	T	0.093821	0.76141	D	0.048	0.13305	0.296	0.26041	0.128392430309	0.12331	1.8152977629532898E-4	0.00016	.	.	.	.	.	0.010807	0.09719	T	-0.255969	0.13376	T	-0.605458	0.12356	T	0.242944911122322	0.22554	T	0.548145	0.18826	T	0.09840026	0.23209	0.14596203	0.34597	0.09840026	0.23209	0.14596203	0.34596	-10.153	0.74823	D	.	.	0.968	0.89068	P	.	.	1.439857	0.18595	13.82	0.97652479577241391	0.35149	0.00110	0.00700	N	AEFI	0.023052	0.01233	N	-0.193946660724834	0.33386	1.893498	-0.319002122167645	0.27485	1.525467	1.09648973830877E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.165000	0.16380	-1.103000	0.06322	0.189000	0.17846	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	310.05	27	chr16	21836303	.	A	G	310.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.52;DP=265;ExcessHet=0;FS=3.522;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=32.46;MQRankSum=-0.638;QD=11.48;ReadPosRankSum=0.611;SOR=0.132	GT:AD:DP:GQ:PL	./.:20,0:20:0:0,0,457	8	0	1	1
chr16	22133039	22133039	C	A	exonic	VWA3A	.	nonsynonymous SNV	VWA3A:NM_173615:exon20:c.C2012A:p.A671D	.	429	1065	26	2	0	30	0.0138889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0208582834185	0.0002	0.000399361	0.0007	0	0.0002	0	0	0.0003	0.0048	0.0039	0.000608	94	154602	rs374069500	0.0004	0.0004	0.0002	0.0005	0.0049	0.0003	0.0003	0.0034	0.0031	0.0001	2.237e-05	0	5.038e-05	0	0.0049	0.0001	0.0006	0.0036	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0.0009	0.0033	0.016	0.53172	D	0.008	0.70582	D	0.999	0.77913	D	0.949	0.68658	D	0.000011	0.62929	D	0.064588	0.994438	0.81001	D	2.175	0.60977	M	2.08	0.49642	T	-3.36	0.75139	D	0.825	0.82057	-1.1573	0.00823	T	0.066	0.27260	T	10	0.016590983	0.00350	T	0.020858	0.43534	T	0.182	0.45420	.	.	0.381746406553	0.37788	0.7247431860439489	0.72418	0.290425186949	0.31450	0.509783446789	0.40192	T	0.052781	0.29257	T	-0.258757	0.13046	T	-0.146569	0.59547	T	0.101674999832226	0.12540	T	0.737426	0.35417	T	0.45108727	0.64109	0.3964381	0.64285	0.45108727	0.64110	0.3964381	0.64285	-15.395	0.96710	D	.	.	0.394	0.71148	A	.;.;.	.;.;.	3.539854	0.49704	22.8	0.99697703530154058	0.80385	0.77786	0.38287	D	AEFBI	0.238348	0.36049	N	0.42430062302623	0.62761	4.497519	0.415977930283627	0.62559	4.473425	0.00390546245915023	0.10332	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	1.772000	0.38182	4.781000	0.44836	0.594000	0.32500	0.993000	0.37899	1.000000	0.68203	0.075000	0.16954	0.0:0.8375:0.0:0.1625	8.553	0.32621	447	0.79583	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.004076	0.008772	0.000000	0.017241	0.009146	0.003788	0.1	1710.14	48	chr16	22133039	.	C	A	1710.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.479;DP=435;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=1.51;SOR=0.727	GT:AD:DP:GQ:PL	0/1:34,35:69:99:818,0,834	8	0	2	0
chr16	22309031	22309031	C	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon4:c.C164T:p.T55M,POLR3E:NM_001258035:exon4:c.C164T:p.T55M,POLR3E:NM_001258033:exon5:c.C272T:p.T91M,POLR3E:NM_001258036:exon5:c.C272T:p.T91M,POLR3E:NM_018119:exon5:c.C272T:p.T91M	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0322927546995	.	.	4.156e-05	0	0.0002	0	0.0002	0	0	0.0001	3.23e-05	5	154602	rs771336397	4.596e-05	4.652e-05	4.096e-05	5.101e-05	0.0010	3.672e-05	3.356e-05	0.0005	0.0003	2.994e-05	2.24e-05	0	0.0002	0	0.0010	1.804e-05	4.978e-05	0.0003	4.6e-05	4.597e-05	6.423e-05	2.691e-05	0.0004	2.109e-05	1.527e-05	7.285e-05	3.027e-05	9.651e-05	0	6.546e-05	0	0	0	0	0	0	0.0004	0.077	0.43708	T	0.052	0.61642	T	0.999	0.77913	D	0.94	0.67560	D	0.000011	0.62929	D	0.148023	0.999974	0.53665	D	2.7	0.79018	M	0.77	0.49642	T	-2.39	0.57762	N	0.654	0.68082	-0.4483	0.70456	T	0.307	0.67749	T	10	0.33992898	0.51070	T	0.032293	0.54161	D	0.219	0.51417	0.612	0.74535	0.773445237949	0.77136	0.5048416891517822	0.50406	1.14632707793	0.79085	0.617921113968	0.55436	T	0.086642	0.54048	T	-0.109071	0.34921	T	-0.115015	0.62210	T	0.30562181763757	0.25234	T	.	.	.	0.078986086	0.18019	0.12385482	0.29861	0.078986086	0.18019	0.12385482	0.29860	-7.214	0.55603	T	.	.	0.115	0.29060	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.916700	0.80938	27.4	0.99894625864747266	0.96819	0.95725	0.65889	D	AEFDBCI	0.539182	0.55626	D	0.732767236439897	0.81779	7.603109	0.702235702939528	0.82549	7.794436	0.999899784981878	0.45129	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	5.615000	0.67382	4.846000	0.45329	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	18.557	0.91042	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1645.43	36	chr16	22309031	.	C	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.361;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.42;SOR=0.646	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1430	9	0	1	0
chr16	22326024	22326024	C	T	exonic	POLR3E	.	nonsynonymous SNV	POLR3E:NM_001258034:exon17:c.C1504T:p.R502W,POLR3E:NM_001258035:exon17:c.C1504T:p.R502W,POLR3E:NM_001258033:exon18:c.C1612T:p.R538W,POLR3E:NM_001258036:exon18:c.C1612T:p.R538W,POLR3E:NM_018119:exon18:c.C1612T:p.R538W	.	391	1129	2	0	0	2	0.000884956	.	.	.	1693676	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.159	0.0461825859521	.	0.00119808	0.0015	0.0002	0	0	0	9.296e-05	0.0053	0.0098	0.0008797	136	154602	rs533624898	0.0005	0.0005	0.0002	0.0008	0.0077	0.0005	0.0005	0.0073	0.0071	6.02e-05	2.296e-05	0	2.539e-05	1.905e-05	0	4.077e-05	0.0004	0.0077	0.0003	0.0003	0.0002	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0.0001	0	0	0	0.0006	0	0	1.471e-05	0.0005	0.0077	0.007	0.61437	D	0.015	0.63109	D	0.001	0.07471	B	0.0	0.01387	B	0.029341	0.25470	N	0.395100	0.90046	0.27710	N	1.87	0.49600	L	0.88	0.46028	T	-1.11	0.39314	N	0.221	0.30118	-0.9388	0.42806	T	0.106	0.38587	T	10	0.006664157	0.00151	T	0.046183	0.62338	D	0.159	0.41286	.	.	0.528009843598	0.52448	0.31375258403133427	0.31288	0.408029708176	0.41652	0.342003673315	0.16738	T	0.030945	0.28093	T	-0.497565	0.00590	T	-0.482788	0.24150	T	0.0855307276114552	0.10679	T	.	.	.	0.04962091	0.08839	0.048397217	0.07179	0.04962091	0.08839	0.048397217	0.07179	-6.908	0.53484	T	.	.	0.094	0.19760	B	.;.;.;.;.	.;.;.;.;.	2.899614	0.38424	20.7	0.99516871357251213	0.68979	0.80796	0.40343	D	AEFDBCI	0.464163	0.51277	N	-0.26839362028351	0.30375	1.693154	-0.193051490926998	0.31790	1.802455	0.918657274524362	0.26578	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.14	4.19	0.48645	0.609000	0.23935	-0.243000	0.10574	0.599000	0.40250	0.998000	0.41325	0.191000	0.23496	0.019000	0.11356	0.2857:0.6282:0.0:0.0861	6.941	0.23669	457	0.78953	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002018	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	945.43	34	chr16	22326024	.	C	T	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=403;ExcessHet=0;FS=0.868;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.908;SOR=0.826	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1040	9	0	1	0
chr16	22534661	22534661	C	T	exonic	NPIPB5	.	nonsynonymous SNV	NPIPB5:NM_001135865:exon7:c.C1678T:p.L560F	.	632	886	4	0	0	4	0.00225225	.	.	.	2199782	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.0197464083347	.	.	0.0007	0.0001	0.0006	0	0.0003	0.0009	0	0.0010	3.84e-05	1	26028	rs773814768	1.189e-05	0.0002	8.359e-06	1.544e-05	1.177e-05	7.24e-06	5.92e-06	5.4e-06	3.94e-06	0	0	0	0	0.0001	0	1.006e-05	0	1.177e-05	8.27e-05	0.0002	6.504e-05	0.0001	0.0003	4.473e-05	3.339e-05	3.436e-05	2.187e-05	3.112e-05	0	0	0	0	0.0004	0	8.906e-05	0	0.0003	0.009	0.58626	D	0.444	0.35455	T	0.91	0.50240	P	0.849	0.60615	P	.	.	.	.	1	0.08975	N	.	.	.	2.12	0.21473	T	-1.08	0.28084	N	0.099	0.08088	-1.0348	0.18920	T	0.076	0.30397	T	6	0.055642992	0.06113	T	0.019746	0.42191	T	0.049	0.13647	0.129	0.03412	0.0297737177859	0.01360	0.014279047924659663	0.01384	.	.	.	.	.	0.020743	0.16275	T	-0.235913	0.15875	T	-0.576649	0.14846	T	0.264548602178463	0.23513	T	0.744226	0.37818	T	0.10656078	0.25197	0.11276917	0.27212	0.10656078	0.25197	0.11276917	0.27212	-10.283	0.75589	D	.	.	0.621	0.69755	P	.;.;.;.;.	.;.;.;.;.	1.429654	0.18479	13.76	0.98444086571496048	0.41542	0.00150	0.00907	N	AEFI	0.033295	0.03920	N	-0.356110278731193	0.27049	1.480956	-0.565728645102572	0.20389	1.098287	1.64775418838586E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	.	.	.	0.105000	0.15169	-4.061000	0.02365	0.116000	0.17634	0.008000	0.17931	0.000000	0.08366	0.008000	0.08271	.	.	.	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006046	0.000000	0.006887	0.000000	0.000000	0.008621	0.007692	0.008475	0.05	80.43	50	chr16	22534661	.	C	T	80.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=1010;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.48;MQRankSum=1.72;QD=0.26;ReadPosRankSum=-1.736;SOR=0.722	GT:AD:DP:GQ:PL	0/0:88,0:88:99:0,120,1800	9	0	1	0
chr16	23069332	23069332	G	C	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon16:c.C2773G:p.P925A	.	425	1062	33	2	0	37	0.0171217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.000998403	0.0024	9.641e-05	0.0003	0	0	0.0010	0.0023	0.0158	0.0022121	342	154602	rs141634001	0.0013	0.0014	0.0009	0.0018	0.0140	0.0013	0.0013	0.0133	0.0131	6.028e-05	0.0002	0.0003	2.528e-05	7.542e-05	0.0081	0.0006	0.0014	0.0140	0.0011	0.0011	0.0011	0.0010	0.0118	0.0009	0.0009	0.0094	0.0085	9.619e-05	0.0351	0.0001	0.0006	0	9.423e-05	0.0102	0.0008	0.0014	0.0118	0.135	0.26192	T	0.039	0.51112	D	0.0	0.02946	B	0.0	0.01387	B	0.218837	0.03439	N	1.754940	1	0.08975	N	1.7	0.43825	L	3.18	0.23884	T	-0.29	0.11728	N	0.053	0.14480	-0.9923	0.32012	T	0.021	0.08778	T	10	0.0021762252	0.00031	T	.	.	.	0.052	0.14661	.	.	0.407632638399	0.40377	0.1907764888670964	0.18995	0.22218228433	0.24755	0.25538033247	0.04355	T	0.007357	0.06771	T	-0.66129	0.00062	T	-0.710997	0.05244	T	0.0182750649148329	0.00546	T	0.645735	0.25721	T	0.041194297	0.06020	0.048098188	0.07073	0.041194297	0.06020	0.048098188	0.07073	-3.268	0.13328	T	.	.	0.060	0.01328	B	.;.	.;.	0.157530	0.05486	1.952	0.89360694669253948	0.18730	0.17158	0.19715	N	AEFDBI	0.082197	0.16642	N	-0.761764257807194	0.14315	0.7121154	-0.84167176139048	0.13488	0.6999429	0.997918275805011	0.36186	0.562547	0.31514	0	0.546412	0.12157	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	6.16	-3.78	0.04049	0.118000	0.15436	0.478000	0.18778	0.676000	0.76740	0.001000	0.13787	0.013000	0.20296	0.966000	0.53164	0.2567:0.4476:0.2957:0.0	8.026	0.29599	437	0.80299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.005051	0.002717	0.002924	0.050000	0.000000	0.009146	0.015152	0.05	1944.43	40	chr16	23069332	.	G	C	1944.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=540;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.339;SOR=0.831	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr16	23102333	23102333	A	G	exonic	USP31	.	nonsynonymous SNV	USP31:NM_020718:exon6:c.T1220C:p.I407T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0256117430824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.18	0.29442	T	0.997	0.70673	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	1.67	0.42885	L	2.99	0.09262	T	0.51	0.02898	N	0.843	0.83885	-1.1154	0.02644	T	0.049	0.20868	T	9	0.7785554	0.77661	D	0.025612	0.48570	D	0.237	0.54074	0.546	0.66015	0.724231701982	0.72178	0.5290314476169267	0.52827	0.946334139909	0.72422	0.814740777016	0.84220	D	0.004558	0.03968	T	0.00952393	0.52960	T	-0.224096	0.52342	T	0.77726674079895	0.44880	D	0.809419	0.45992	T	0.14993371	0.34157	0.27048472	0.52940	0.14993371	0.34157	0.27048472	0.52939	-2.252	0.04300	T	.	.	0.936	0.85539	P	.	.	4.681449	0.74923	26.2	0.99688086119308827	0.79708	0.99133	0.91711	D	AEFBI	0.891293	0.82713	D	0.624988359746946	0.74757	6.187558	0.664192848206461	0.79670	7.132084	0.999999992010536	0.74766	0.706548	0.73137	0	0.601575	0.49859	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	8.911000	0.92272	11.212000	0.89433	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.878	0.70147	388	0.83355	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	102.43	34	chr16	23102333	.	A	G	102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.016;DP=473;ExcessHet=0;FS=78.1;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.49;SOR=6.932	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,943	9	0	1	0
chr16	23215360	23215360	C	T	exonic	SCNN1G	.	nonsynonymous SNV	SCNN1G:NM_001039:exon13:c.C1841T:p.A614V	Bronchiectasis with or without elevated sweat chloride 3, Autosomal dominant;Liddle syndrome, Autosomal dominant;Pseudohypoaldosteronism, type I, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	874915	Pseudohypoaldosteronism,_type_IB1,_autosomal_recessive|Liddle_syndrome_2	MONDO:MONDO:0009917,MedGen:C5774176,OMIM:264350,Orphanet:171876,Orphanet:756|MONDO:MONDO:0020854,MedGen:C4748251,OMIM:618114	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0295646647047	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1474666302	1.915e-05	1.915e-05	1.633e-05	2.2e-05	0.0010	1.328e-05	1.144e-05	0.0005	0.0003	0	0	3.826e-05	0	0	0.0010	1.349e-05	9.934e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.16305	T	0.124	0.35455	T	0.89	0.48942	P	0.307	0.41295	B	0.000502	0.43753	D	0.155060	0.747395	0.33890	D	1.895	0.50365	L	-0.58	0.71425	T	-0.77	0.21429	N	0.136	0.13341	-0.6891	0.60950	T	0.162	0.49715	T	10	0.25810558	0.43233	T	0.029565	0.52052	D	0.094	0.27141	0.185	0.09388	0.798924905932	0.79705	0.43498428848907045	0.43415	0.218044376501	0.24340	0.346513211727	0.17407	T	0.314605	0.68627	T	-0.0838847	0.39080	T	-0.342785	0.40030	T	0.262765675783157	0.23435	T	0.809719	0.46038	T	0.08715098	0.20283	0.12008012	0.28981	0.08715098	0.20282	0.12008012	0.28981	-3.168	0.12094	T	.	.	0.079	0.07412	B	.	.	1.906223	0.24211	16.31	0.99870254037185857	0.94815	0.90593	0.51898	D	AEFDBI	0.365323	0.45354	N	-0.0183584645376457	0.41026	2.446597	0.0814591199220723	0.43616	2.659755	0.99426484056221	0.33559	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	4.43	0.52967	2.336000	0.43597	3.278000	0.37209	0.599000	0.40250	0.999000	0.42656	0.998000	0.33993	0.233000	0.22815	0.0:0.8558:0.1442:0.0	14.897	0.70293	717	0.55835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3075.43	187	chr16	23215360	.	C	T	3075.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.624;DP=492;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=0.371;SOR=0.487	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1208	9	0	1	0
chr16	23491719	23491719	C	T	exonic	GGA2	.	nonsynonymous SNV	GGA2:NM_015044:exon5:c.G433A:p.D145N	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0194632546168	0.0004	.	0.0003	0	0	0.0003	0	0.0003	0.0011	0.0008	0.0002587	40	154602	rs79515799	0.0001	0.0001	0.0001	0.0002	0.0008	0.0001	0.0001	0.0007	0.0006	0	0	0.0030	0.0002	0	0.0003	2.97e-05	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	0	0	0	0.0037	0.0008	0	0	0.0001	0	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.959	0.70163	D	0.000007	0.62929	D	0.107611	0.992291	0.41606	D	1.04	0.26193	L	1.98	0.21865	T	-2.2	0.50175	N	0.509	0.54059	-1.1049	0.03547	T	0.110	0.39627	T	10	0.02393055	0.00642	T	0.019463	0.41828	T	0.221	0.51721	.	.	0.343101102393	0.33919	0.22697049938700994	0.22612	0.570514662331	0.53208	0.539447844028	0.44368	T	0.172723	0.52133	T	-0.429753	0.01487	T	-0.487494	0.23652	T	0.120279175227937	0.14458	T	0.953605	0.82243	D	0.61281925	0.73379	0.44701883	0.67796	0.61281925	0.73380	0.44701883	0.67796	-9.228	0.69153	D	.	.	0.177	0.38693	B	.;.	.;.	5.070414	0.84568	28.3	0.99907809289676297	0.97801	0.92064	0.54865	D	AEFDGBCI	0.746992	0.68919	D	0.669649082486863	0.77645	6.714806	0.677715323892243	0.80690	7.355278	0.999999999976938	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	5.48	5.48	0.80675	6.046000	0.70661	7.506000	0.59554	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	16.854	0.85866	323	0.86843	VHS domain|VHS domain|VHS domain;VHS domain|VHS domain|VHS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1482.43	43	chr16	23491719	.	C	T	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.119;DP=514;ExcessHet=0;FS=9.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.126;SOR=0.522	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	9	0	1	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028254	0.010204	0.027174	0.038012	0.000000	0.025862	0.036810	0.022727	0.05	1272.43	34	chr16	24939524	.	C	T	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=435;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=-1.875;SOR=0.819	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1028	9	0	1	0
chr16	25224417	25224417	T	C	exonic	AQP8	.	nonsynonymous SNV	AQP8:NM_001169:exon4:c.T443C:p.V148A	.	423	1097	1	1	0	3	0.0013655	.	.	.	3286076	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.394	0.0699501388821	.	.	0.0001	0	0	0	0	3.005e-05	0	0.0007	9.06e-05	14	154602	rs773838747	7.114e-05	7.114e-05	4.628e-05	9.626e-05	0.0008	5.98e-05	5.588e-05	0.0006	0.0006	0	0	0	0	0	0.0002	3.058e-05	4.968e-05	0.0008	2.627e-05	2.625e-05	2.57e-05	2.686e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0	0.0002	0.003	0.68238	D	0.051	0.48855	T	0.722	0.42387	P	0.42	0.45080	B	0.051732	0.22956	N	0.497847	0.97972	0.25162	N	1.745	0.45235	L	-2.05	0.85799	D	-2.13	0.48354	N	0.458	0.49783	-0.2295	0.76900	T	0.531	0.82583	D	10	0.31427723	0.48870	T	0.06995	0.70871	D	0.394	0.70924	0.423	0.46693	0.912223512337	0.91134	0.8354200535952137	0.83502	0.722490668574	0.62282	0.450436472893	0.32003	T	0.389704	0.75007	T	-0.267845	0.11997	T	-0.254924	0.49329	T	0.230829883937955	0.21991	T	0.715628	0.32820	T	0.19639854	0.41465	0.27284893	0.53199	0.19639854	0.41465	0.27284893	0.53198	-6.11	0.47190	T	.	.	0.427	0.61020	A	.;.	.;.	2.686919	0.35067	19.80	0.99384722183372809	0.62068	0.94517	0.61421	D	AEFDBI	0.726972	0.67546	D	0.22767316379507	0.52544	3.427905	0.25245756503039	0.52788	3.451421	0.999753282966633	0.42595	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.36	5.36	0.76624	5.834000	0.69064	7.694000	0.65937	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.088000	0.17685	0.0:0.0:0.0:1.0	13.293	0.59715	906	0.23090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	738.43	33	chr16	25224417	.	T	C	738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.181;DP=378;ExcessHet=0;FS=3.437;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.449;SOR=0.34	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	9	0	1	0
chr16	27210328	27210328	G	A	exonic	KDM8	.	nonsynonymous SNV	KDM8:NM_001145348:exon2:c.G319A:p.E107K,KDM8:NM_024773:exon2:c.G205A:p.E69K	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0230606154334	.	0.000998403	0.0008	0	8.673e-05	0	0	0	0.0011	0.0057	0.0006662	103	154602	rs539639840	0.0003	0.0003	0.0002	0.0004	0.0050	0.0003	0.0003	0.0046	0.0045	2.987e-05	2.236e-05	0	0	0	0	7.194e-06	0.0006	0.0050	0.0001	0.0001	5.137e-05	0.0002	0.0041	8.656e-05	7.249e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.021	0.50676	D	0.387	0.40909	T	0.066	0.77913	B	0.007	0.61580	B	0.000098	0.51296	U	0.129642	0.998436	0.44913	D	2.245	0.63543	M	1.83	0.25344	T	-1.35	0.42191	N	0.634	0.64903	-0.8286	0.53390	T	0.168	0.50681	T	10	0.0070341825	0.00160	T	0.023061	0.45999	T	0.088	0.25558	.	.	0.572998254541	0.56966	0.3687357526598822	0.36787	0.214880716361	0.24025	0.476075321436	0.35517	T	0.049903	0.28440	T	-0.381785	0.03036	T	-0.319679	0.42609	T	0.0652175766270193	0.07964	T	0.908909	0.67748	D	0.112274796	0.26525	0.12509347	0.30144	0.112274796	0.26525	0.12509347	0.30144	-6.81	0.52633	T	.	.	0.100	0.48438	B	.;.;.;.;.	.;.;.;.;.	3.786411	0.54474	23.5	0.99866516113666404	0.94457	0.98791	0.86901	D	AEFDBI	0.571359	0.57537	D	0.494955483200326	0.66793	4.996496	0.518758569116928	0.69252	5.334126	0.99956418185702	0.40425	0.719381	0.83141	0	0.546412	0.12157	0	0.723133	0.82415	0	0.491896	0.07777	0	.	.	5.44	5.44	0.79348	4.848000	0.62573	11.779000	0.96061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:0.0:1.0:0.0	17.838	0.88618	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1827.43	33	chr16	27210328	.	G	A	1827.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.359;DP=444;ExcessHet=0;FS=3.116;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=1.67;SOR=0.991	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	0	1	0
chr16	27403181	27403181	G	A	exonic	IL21R	.	nonsynonymous SNV	IL21R:NM_181079:exon2:c.G11A:p.R4H	Immunodeficiency, primary, autosomal recessive, IL21R-related, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	614421	not_provided|IgE_responsiveness,_atopic|Cryptosporidiosis-chronic_cholangitis-liver_disease_syndrome	MedGen:C3661900|MONDO:MONDO:0007817,MedGen:C1840253,OMIM:147050|MONDO:MONDO:0014082,MedGen:C3554687,OMIM:615207,Orphanet:357329	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0041	0.0035	0	0	0	0.0080	0.0231	0.0021	0.0021474	332	154602	rs117535117	0.0108	0.0090	0.0112	0.0105	0.0124	0.0107	0.0106	0.0122	0.0121	0.0054	0.0079	0.0047	9.163e-05	0.0037	0.0048	0.0124	0.0093	0.0018	0.0086	0.0086	0.0089	0.0083	0.0150	0.0082	0.0081	0.0134	0.0128	0.0057	0.0274	0.0150	0.0046	0	0.0024	0.0102	0.0111	0.0057	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002353	0.000000	0.000000	0.000000	0.000000	0.000000	0.005747	0.010204	0.05	1208.43	38	chr16	27403181	.	G	A	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.429;DP=479;ExcessHet=0;FS=2.396;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-0.507;SOR=0.928	GT:AD:DP:GQ:PL	0/1:61,54:115:99:1220,0,1375	9	0	1	0
chr16	27750046	27750046	G	A	exonic	KATNIP	.	nonsynonymous SNV	KATNIP:NM_015202:exon16:c.G3086A:p.R1029H	.	.	.	.	.	.	.	.	.	.	.	3690920	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.471	0.027194186597	7.7e-05	.	4.123e-05	9.628e-05	0	0	0	6.003e-05	0	0	3.23e-05	5	154602	rs369563369	4.309e-05	4.309e-05	3.539e-05	5.088e-05	0.0002	3.442e-05	3.129e-05	2.999e-05	2.671e-05	8.961e-05	6.708e-05	0.0002	0	0	0.0002	3.957e-05	3.311e-05	6.956e-05	7.229e-05	7.223e-05	0.0001	4.037e-05	0.0002	3.972e-05	3.128e-05	9.566e-05	6.963e-05	0.0002	0	0	0	0	0	0	4.41e-05	0	0	0.02	0.49613	D	0.018	0.59732	D	0.997	0.70673	D	0.941	0.67658	D	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	3.5	0.92762	M	2.1	0.19990	T	-4.04	0.74427	D	0.806	0.80180	-0.7107	0.59918	T	0.175	0.51816	T	10	0.8236482	0.81555	D	0.027194	0.50036	D	0.471	0.76487	.	.	0.638171007754	0.63519	0.8049197048162238	0.80445	0.746761785004	0.63561	0.598674058914	0.52716	T	0.073009	0.34594	T	0.0390774	0.56925	T	0.055024	0.73915	D	0.990931153297424	0.81175	D	0.972503	0.90119	D	0.3875332	0.59856	0.25663894	0.51367	0.3875332	0.59857	0.25663894	0.51366	-12.819	0.88603	D	.	.	0.839	0.79184	P	.	.	5.282693	0.88704	29.7	0.99955650611237035	0.99975	0.99063	0.90684	D	AEFBI	0.807252	0.73134	D	0.830790160284876	0.87988	9.412844	0.744863493291228	0.85772	8.681636	0.999999999999736	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.22	5.22	0.72285	9.750000	0.98081	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0:0.0:1.0:0.0	18.761	0.91813	571	0.70397	Domain of unknown function DUF4457	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1570.43	37	chr16	27750046	.	G	A	1570.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=450;ExcessHet=0;FS=0.673;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=0.868;SOR=0.804	GT:AD:DP:GQ:PL	0/1:63,60:123:99:1582,0,1532	9	0	1	0
chr16	28496534	28496534	G	A	exonic	APOBR	.	nonsynonymous SNV	APOBR:NM_018690:exon2:c.G1493A:p.R498K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0201968943036	0.0005	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0014	0.0002975	46	154602	rs200832612	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0006	3.093e-05	0.0001	0	0	0	0.0002	0.0002	0.0002	0.0008	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0002	0.0001	2.406e-05	0.0274	0.0004	0	0	0	0	0.0002	0.0009	0.0002	0.676	0.04482	T	0.995	0.06166	T	0.006	0.13644	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-1.2	0.00838	N	-0.61	0.71779	T	0.63	0.02404	N	0.02	0.00308	-0.9859	0.33615	T	0.094	0.35631	T	9	0.0024457276	0.00037	T	0.020197	0.42744	T	0.038	0.09825	.	.	0.339074221408	0.33521	0.022243401767203803	0.02176	0.0689220398116	0.07714	0.258435308933	0.04706	T	4.26E-4	0.00140	T	-0.564716	0.00238	T	-0.675502	0.07260	T	0.0142870743581392	0.00284	T	0.29617	0.06085	T	0.037005328	0.04663	0.050115924	0.07800	0.037005328	0.04663	0.050115924	0.07799	.	.	.	.	.	0.086	0.10835	B	.;.	.;.	-0.520503	0.01803	0.140	0.69883350896088581	0.09115	0.00070	0.00494	N	AEFDBI	0.053862	0.09742	N	-1.65301309921588	0.01022	0.04432962	-1.66222251794803	0.01314	0.05928336	0.999993619187321	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.54	-3.87	0.03939	-2.331000	0.01190	-0.048000	0.12582	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	0.2899:0.1371:0.4389:0.1341	3.254	0.06423	683	0.59664	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1469.14	56	chr16	28496534	.	G	A	1469.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.771;DP=426;ExcessHet=0.2348;FS=17.42;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.472;SOR=0.689	GT:AD:DP:GQ:PL	0/1:26,25:51:99:661,0,699	8	0	2	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	73.05	35	chr16	28757997	.	G	T	73.05	.	AC=2;AF=0.1;AN=20;DP=320;ExcessHet=0;FS=0;InbreedingCoeff=0.8774;MLEAC=1;MLEAF=0.05;MQ=40;QD=28.9;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:28757992_CA_C:90,6,0:28757992	9	1	0	0
chr16	29382896	29382896	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C2036G:p.P679R	.	689	831	2	0	0	2	0.00120192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00338371275204	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1319138889	0.0026	0.0026	0.0025	0.0026	0.0038	0.0025	0.0024	0.0034	0.0033	0.0013	0.0013	0.0021	0.0023	0.0044	0.0025	0.0024	0.0026	0.0038	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	1.0	0.00964	T	0.722	0.05309	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.975	0.01213	N	2.62	0.12988	T	0.99	0.01428	N	0.092	0.07125	-0.9788	0.35277	T	0.009	0.03315	T	5	0.016945839	0.00359	T	0.003384	0.07572	T	0.014	0.01968	0.225	0.14960	0.0920862733494	0.08535	8.989731297647607E-4	0.00082	.	.	.	.	.	0.002448	0.01836	T	-0.746762	0.00019	T	-0.858678	0.00857	T	0.00483012331644523	0.00052	T	0.392661	0.09777	T	0.13408391	0.31165	0.1301983	0.31290	0.13408391	0.31164	0.1301983	0.31289	-4.69	0.33283	T	.	.	0.113	0.22428	B	.	.	-0.188395	0.03150	0.510	0.36059330440144027	0.02298	0.00081	0.00551	N	AEFI	0.027544	0.02270	N	-1.58447936351063	0.01344	0.0585523	-1.68840555836015	0.01189	0.05353436	3.42973070349647E-5	0.03775	0.722319	0.85440	0	0.698795	0.70079	0	0.618467	0.43123	0	0.491896	0.07777	0	.	.	.	.	.	-1.293000	0.02878	-7.379000	0.01169	-1.143000	0.01438	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	210.43	21	chr16	29382896	.	G	C	210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=314;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.58;MQRankSum=-0.631;QD=6.19;ReadPosRankSum=0.783;SOR=0.941	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,1012	9	0	1	0
chr16	29382999	29382999	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1933G:p.P645A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0211419618282	.	.	8.583e-06	0	0	0	0	1.566e-05	0	0	3.84e-05	1	26028	rs756879841	1.028e-05	1.026e-05	1.227e-05	8.265e-06	1.349e-05	6.17e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	2.066e-05	9.886e-05	1.341e-05	2.833e-05	1.516e-05	5.49e-06	2.52e-06	.	.	0	0	0	0.0006	0	0	0	1.516e-05	0	0	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.72	0.26588	T	-0.91	0.24460	N	0.091	0.06990	-1.0086	0.27354	T	0.043	0.18326	T	4	0.087445915	0.14963	T	0.021142	0.43862	T	0.031	0.07369	0.338	0.32816	0.139678290688	0.13603	0.0010482649143814852	0.00096	.	.	.	.	.	0.011047	0.09905	T	-0.251301	0.13939	T	-0.598753	0.12915	T	0.0998966606523281	0.12346	T	0.514049	0.16524	T	0.08446088	0.19549	0.13631544	0.32614	0.08446088	0.19549	0.13631544	0.32613	-10.044	0.74175	D	.	.	0.551	0.66812	A	.	.	0.947988	0.13241	9.741	0.91839566063827771	0.21150	0.00090	0.00598	N	AEFDIJ	0.023317	0.01283	N	-0.570147359918371	0.19857	1.042493	-0.707427910388993	0.16775	0.8890332	1.09648973830877E-6	0.01202	0.722319	0.85440	0	0.698795	0.70079	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	0.189000	0.16845	-1.114000	0.06289	0.190000	0.17853	0.025000	0.20085	0.000000	0.08366	0.026000	0.12556	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2261.43	33	chr16	29382999	.	G	C	2261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.3;DP=488;ExcessHet=0;FS=5.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.58;MQRankSum=-5.234;QD=16.63;ReadPosRankSum=-0.436;SOR=1.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,104,1012:.	9	0	1	0
chr16	29383022	29383022	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1910C:p.R637P	.	537	983	2	0	0	2	0.00101626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00137807169732	.	0.00159744	0.0008	0.0003	0.0007	0.0024	0	0.0009	0	0.0002	0.0006662	103	154602	rs573087265	6.601e-05	7.329e-05	4.784e-05	8.439e-05	0.0002	5.523e-05	5.133e-05	0.0001	8.802e-05	2.997e-05	2.242e-05	0	0.0002	0	0	6.487e-05	0.0002	2.401e-05	0.0003	0.0008	0.0003	0.0003	0.0029	0.0002	0.0002	0.0017	0.0013	0.0003	0	0.0003	0	0.0029	0	0	0.0002	0	0.0002	0.291	0.14945	T	0.321	0.19073	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	1.04	0.26193	L	2.41	0.15492	T	0.71	0.02130	N	0.141	0.14054	-0.9718	0.36819	T	0.025	0.10777	T	5	0.008448452	0.00192	T	0.001378	0.02011	T	0.007	0.00512	0.35	0.34760	0.170165803431	0.16609	0.038846008794788535	0.03830	.	.	.	.	.	0.004596	0.03998	T	-0.486403	0.00680	T	-0.753693	0.03344	T	0.0267502387412079	0.01509	T	0.393061	0.09795	T	0.17190467	0.37851	0.22630191	0.47603	0.17190467	0.37851	0.22630191	0.47602	0.947	0.00139	T	.	.	0.340	0.55903	B	.	.	0.928524	0.13039	9.541	0.49463438770195678	0.04214	0.00214	0.01215	N	AEFDI	0.078068	0.15743	N	-0.918703182555413	0.10404	0.4970577	-1.11952203456524	0.07328	0.3559979	7.73979907486865E-6	0.01202	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.993000	0.04377	-2.014000	0.00440	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2971.43	33	chr16	29383022	.	C	G	2971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.254;DP=536;ExcessHet=0;FS=6.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.16;MQRankSum=-4.501;QD=16.69;ReadPosRankSum=-0.654;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,104,1012:.	9	0	1	0
chr16	29383028	29383028	C	G	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.G1904C:p.R635P	.	530	989	1	0	2	3	0.000505306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00341195000851	.	.	0.0007	0.0003	0.0010	0.0007	0	0.0009	0	0.0004	0.0003074	8	26028	rs138595165	7.048e-05	9.046e-05	6.051e-05	8.056e-05	0.0003	5.906e-05	5.512e-05	0.0002	0.0001	6.335e-05	4.651e-05	0	0.0003	0	0	6.943e-05	0.0001	4.691e-05	0.0004	0.0022	0.0004	0.0005	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0008	0.0003	0.0008	0	0	0.0002	0	0	0.221	0.18889	T	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	-0.895	0.01383	N	2.17	0.19020	T	-0.53	0.16393	N	0.129	0.12341	-1.0028	0.29109	T	0.014	0.05369	T	5	0.027951658	0.00933	T	0.003412	0.07664	T	0.043	0.11576	0.472	0.54699	0.0954503805726	0.09146	0.0029045590469320435	0.00270	.	.	.	.	.	0.007658	0.07052	T	-0.718026	0.00028	T	-0.799044	0.01926	T	0.0207641019378915	0.00776	T	0.393061	0.09795	T	0.095700435	0.22528	0.14224006	0.33846	0.095700435	0.22527	0.14224006	0.33845	2.451	0.00034	T	.	.	0.224	0.45569	B	.	.	-0.346083	0.02421	0.273	0.55329711324615405	0.05320	0.00017	0.00201	N	AEFDI	0.014128	0.00213	N	-1.80391883393766	0.00535	0.02306132	-1.94951420007606	0.00390	0.01722129	3.22638092691484E-4	0.06540	0.645754	0.44609	0	0.696144	0.67643	0	0.653264	0.51672	0	0.491896	0.07777	0	.	.	.	.	.	-2.015000	0.01536	-1.212000	0.06011	-2.014000	0.00440	0.001000	0.13787	0.001000	0.17328	0.001000	0.02609	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3821.43	33	chr16	29383028	.	C	G	3821.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.89;DP=546;ExcessHet=0;FS=6.197;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.79;MQRankSum=-4.069;QD=20.55;ReadPosRankSum=-1.276;SOR=1.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,104,1012:.	9	0	1	0
chr16	29383301	29383301	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1631G:p.H544R	.	539	915	66	2	0	70	0.0368421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.102607754237	.	.	0.0034	0.0006	0.0027	0.0010	0.0051	0.0041	0.0070	0.0029	0.0001153	3	26028	rs376109229	0.0004	0.0045	0.0004	0.0004	0.0008	0.0004	0.0004	0.0004	0.0004	0.0002	0.0006	0.0016	0.0002	0.0011	0.0008	0.0003	0.0005	0.0006	0.0008	0.0028	0.0007	0.0008	0.0010	0.0006	0.0006	0.0008	0.0007	0.0004	0	0.0010	0.0004	0	0.0010	0.0052	0.0010	0.0006	0.0003	0.714	0.03996	T	0.893	0.03108	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.49	0.02651	N	2.37	0.15964	T	0.3	0.04091	N	0.065	0.03726	-0.9529	0.40468	T	0.015	0.06282	T	4	0.010405421	0.00232	T	0.102608	0.77617	D	0.123	0.34020	0.182	0.09004	0.0666544352282	0.05500	0.017460914292579344	0.01701	.	.	.	.	.	0.002187	0.01585	T	-0.441885	0.01260	T	-0.872514	0.00719	T	0.00853633190419786	0.00104	T	0.472453	0.14032	T	0.05944767	0.12081	0.08600925	0.19898	0.05944767	0.12081	0.08600925	0.19897	0.7	0.00176	T	.	.	0.119	0.24498	B	.	.	-0.050767	0.03944	0.880	0.27293411967531173	0.01348	0.00096	0.00628	N	AEFI	0.029149	0.02698	N	-0.519074859421896	0.21463	1.139253	-0.565229626340505	0.20402	1.099045	1.09648973830877E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	.	.	.	-1.331000	0.02779	-1.556000	0.05178	-0.897000	0.02353	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	262.45	33	chr16	29383301	.	T	C	262.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.962;DP=962;ExcessHet=0.7463;FS=13.835;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.24;MQRankSum=-0.81;QD=0.57;ReadPosRankSum=-5.196;SOR=2.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,99,1485:.	7	0	3	0
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	606.96	33	chr16	29383427	.	T	C	606.96	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.731;DP=539;ExcessHet=0;FS=4.357;InbreedingCoeff=0.6697;MLEAC=2;MLEAF=0.125;MQ=49.32;MQRankSum=-0.352;QD=24.28;ReadPosRankSum=-1.257;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:24:.:.:0,24,735:.	7	1	0	2
chr16	29383437	29383437	G	T	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C1495A:p.P499T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.013040640946	.	.	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs796341971	0.0035	0.0005	0.0036	0.0034	0.0349	0.0032	0.0031	0.0244	0.0209	0.0250	0.0068	0.0021	0.0349	0.0016	0	0.0017	0.0060	0.0068	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.044	0.41096	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	1.965	0.53209	M	2.27	0.17431	T	-2.26	0.50502	N	0.085	0.06190	-0.9877	0.33175	T	0.053	0.22578	T	3	0.004444927	0.00091	T	0.013041	0.32127	T	0.086	0.25016	0.261	0.20473	0.128392430309	0.12331	0.04811201458583903	0.04754	.	.	.	.	.	0.062	0.31906	T	-0.670881	0.00054	T	-0.719531	0.04818	T	0.0103741038023816	0.00142	T	0.770923	0.40135	T	0.08623104	0.20036	0.13485615	0.32304	0.08623104	0.20036	0.13485615	0.32303	-4.477	0.30586	T	.	.	0.222	0.45261	B	.	.	1.461296	0.18836	13.95	0.9914587383974085	0.53682	0.00144	0.00877	N	AEFDI	0.034136	0.04175	N	-0.186021118236797	0.33715	1.916004	-0.3111444491505	0.27738	1.541	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	0.283000	0.18605	-0.295000	0.10161	0.285000	0.18709	0.004000	0.16614	0.000000	0.08366	0.005000	0.06747	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	265.51	112	chr16	29383437	.	G	T	265.51	.	AC=2;AF=1;AN=2;BaseQRankSum=1.83;DP=665;ExcessHet=0;FS=7.404;InbreedingCoeff=0.3327;MLEAC=3;MLEAF=1;MQ=49.52;MQRankSum=-0.66;QD=24.14;ReadPosRankSum=0.431;SOR=4.615	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:31,0:31:0:.:.:0,0,0:.	0	1	0	9
chr16	29383985	29384041	GCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	-	exonic	NPIPB11	.	nonframeshift deletion	NPIPB11:NM_001310137:exon8:c.891_947del:p.D298_A316del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.014e-05	4.685e-05	5.179e-05	4.85e-05	5.405e-05	3.944e-05	3.688e-05	4.233e-05	3.792e-05	0	0	0.0001	0	0.0001	0	5.405e-05	7.177e-05	0	3.844e-05	0.0001	4.869e-05	2.705e-05	0.0001	1.021e-05	4.83e-06	.	.	0	0	0.0001	0.0005	0	0	0	2.336e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	915.39	39	chr16	29383984	.	AGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGGGAGGTGTCTTGAGATTATCATCC	A	915.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=547;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.36;MQRankSum=2.53;QD=17.6;ReadPosRankSum=-1.249;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:72,0:72:99:.:.:0,110,1800:.	9	0	1	0
chr16	29384017	29384017	G	0	exonic	NPIPB11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1147.37	39	chr16	29384017	.	G	*	1147.37	.	AC=1;AF=0.167;AN=6;BaseQRankSum=4.58;DP=782;ExcessHet=0;FS=4.766;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.333;MQ=36.89;MQRankSum=1.5;QD=11.36;ReadPosRankSum=1.63;SOR=0.323	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:109,0:109:0:.:.:0,0,1775:.	2	0	1	7
chr16	29384067	29384067	G	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.C865G:p.L289V	.	490	1000	31	1	0	33	0.0162322	.	.	.	3886674	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00158488070502	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202027988	0.0025	0.0051	0.0025	0.0025	0.0059	0.0024	0.0024	0.0038	0.0031	0.0013	0.0034	0.0092	0.0007	0.0040	0.0059	0.0024	0.0035	0.0017	0.0030	0.0051	0.0032	0.0028	0.0043	0.0027	0.0026	0.0038	0.0036	0.0005	0	0.0029	0.0074	0	0.0017	0.0069	0.0043	0.0008	0.0005	0.809	0.03044	T	0.677	0.06166	T	.	.	.	.	.	.	.	.	.	.	1	0.19853	N	1.24	0.30952	L	2.11	0.19860	T	-0.14	0.09135	N	0.125	0.11769	-0.9730	0.36562	T	0.036	0.15422	T	5	0.020652711	0.00480	T	0.001585	0.02523	T	0.057	0.16321	0.6	0.73105	0.0666544352282	0.05500	0.012093240479471065	0.01168	.	.	.	.	.	0.004977	0.04407	T	-0.338299	0.05507	T	-0.72372	0.04618	T	0.00418858953756029	0.00045	T	0.487551	0.14930	T	0.06426165	0.13616	0.08630407	0.19986	0.06426165	0.13615	0.08630407	0.19986	-9.7	0.72096	D	.	.	0.202	0.42606	B	.	.	0.893099	0.12667	9.190	0.44852604465017715	0.03478	0.00304	0.01615	N	AEFDI	0.042671	0.06650	N	-0.899904461991242	0.10845	0.5202724	-1.10071547162413	0.07687	0.3748907	1.09537333666636E-6	0.01202	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	.	.	.	0.289000	0.18713	-4.996000	0.01894	0.288000	0.18739	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	541.43	39	chr16	29384067	.	G	C	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.839;DP=790;ExcessHet=0;FS=1.081;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.29;MQRankSum=-3.039;QD=8.08;ReadPosRankSum=-0.535;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:111,0:111:99:.:.:0,120,1800:.	9	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	700.3	110	chr16	29485668	.	C	*	700.3	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.202;DP=1076;ExcessHet=7.0302;FS=13.803;InbreedingCoeff=-0.6;MLEAC=5;MLEAF=0.278;MQ=29.59;MQRankSum=-0.241;QD=0.96;ReadPosRankSum=-2.645;SOR=0.135	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:30,17:71:99:1|0:29485610_ACACACTC_A:670,161,1597:29485610	4	0	5	1
chr16	29807125	29807125	C	A	exonic	MAZ	.	nonsynonymous SNV	MAZ:NM_001042539:exon2:c.C340A:p.P114T,MAZ:NM_002383:exon2:c.C340A:p.P114T,MAZ:NM_001276275:exon3:c.C271A:p.P91T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0503178052601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.029e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.049	0.50226	D	0.007	0.14184	B	0.004	0.10090	B	0.880915	0.08756	N	0.902838	1	0.21372	N	0	0.06538	N	2.99	0.09915	T	-0.13	0.08971	N	0.277	0.31702	-0.9533	0.40398	T	0.015	0.05897	T	10	0.10561094	0.19529	T	0.050318	0.64189	D	0.021	0.04004	0.312	0.28612	0.255117706274	0.25116	0.5748603486280593	0.57415	1.06235581536	0.76527	0.908433318138	0.97320	D	0.10302	0.41128	T	-0.13279	0.31044	T	-0.42852	0.30104	T	0.141565995737493	0.16409	T	0.578142	0.20837	T	0.07058305	0.15560	0.1166431	0.28159	0.07058305	0.15559	0.1166431	0.28158	-4.972	0.37346	T	.	.	0.121	0.25232	B	.;.;.	.;.;.	1.705730	0.21725	15.32	0.93604252434651758	0.23463	0.28318	0.23521	N	AEFDBHCI	0.084877	0.17204	N	-1.05354154043279	0.07518	0.3495141	-1.06885490035928	0.08319	0.4084994	0.99999862011807	0.74766	0.242642	0.04205	2	0.166054	0.03914	2	0.391439	0.06340	0	0.621717	0.48901	0	.	.	2.43	1.45	0.21708	0.723000	0.25609	2.466000	0.32876	0.175000	0.17779	0.003000	0.16062	1.000000	0.68203	0.223000	0.22544	0.0:0.8227:0.0:0.1773	5.545	0.16346	280	0.88949	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	45.65	2	chr16	29807125	.	C	A	45.65	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.66;DP=90;ExcessHet=0;FS=0;InbreedingCoeff=-0.0696;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.15;ReadPosRankSum=1.6;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:10,0:10:30:.:.:0,30,254:.	9	0	1	0
chr16	29810106	29810114	GCAGCGGCA	-	exonic	MAZ	.	nonframeshift deletion	MAZ:NM_001276276:exon3:c.394_402del:p.A141_A143del,MAZ:NM_002383:exon5:c.1309_1317del:p.A446_A448del,MAZ:NM_001276275:exon6:c.1240_1248del:p.A423_A425del	.	329	1048	62	5	78	150	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0125	.	0.0097	0.0014	0.0019	0.0059	0.0005	0.0013	0.015	0.0587	3.23e-05	5	154602	rs760562143	0.0044	0.0044	0.0028	0.0060	0.0564	0.0043	0.0043	0.0550	0.0545	0.0009	0.0018	0.0003	0.0031	0.0009	0.0146	0.0009	0.0055	0.0564	0.0034	0.0034	0.0026	0.0042	0.0571	0.0032	0.0031	0.0514	0.0492	0.0010	0	0.0032	0	0.0063	0.0009	0.0252	0.0014	0.0063	0.0571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	5807.41	35	chr16	29810105	.	GGCAGCGGCA	G	5807.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.402;DP=612;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.509;SOR=0.706	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	7	0	3	0
chr16	29813466	29813466	C	G	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C412G:p.P138A,PRRT2:NM_001256443:exon2:c.C412G:p.P138A,PRRT2:NM_145239:exon2:c.C412G:p.P138A	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	0	1507	15	0	0	15	0.00495213	.	.	.	135484	not_specified|Episodic_kinesigenic_dyskinesia|Inborn_genetic_diseases|not_provided|Episodic_kinesigenic_dyskinesia_1	MedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.032	.	0.0014	0.0295527	0.0174	0.0028	0.0668	0.0979	0.0026	0.0007	0.0135	0.0228	0.0159054	2459	154602	rs79182085	0.0078	0.0078	0.0075	0.0080	0.1455	0.0077	0.0076	0.1424	0.1411	0.0010	0.0571	0	0.1455	0.0024	0.0028	0.0004	0.0080	0.0232	0.0079	0.0080	0.0067	0.0092	0.1012	0.0076	0.0074	0.0940	0.0912	0.0019	0	0.0265	0	0.1012	0.0024	0	0.0006	0.0080	0.0240	0.022	0.49117	D	0.029	0.54541	D	0.001	0.17989	B	0.001	0.16460	B	0.787771	0.09421	N	0.893166	0.994714	0.23459	N	1.445	0.36358	L	-0.63	0.74265	T	-0.33	0.19933	N	0.194	0.25745	-1.0983	0.04303	T	0.006	0.02055	T	10	0.001377523	0.00015	T	.	.	.	0.032	0.07718	.	.	.	.	0.039453504209102916	0.03891	0.270967634394	0.29621	0.319753050804	0.13383	T	0.009471	0.08620	T	-0.535628	0.00356	T	-0.398349	0.33576	T	0.000297025384191556	0.00002	T	0.721828	0.33531	T	0.07019904	0.15442	0.070397034	0.14952	0.04540043	0.07424	0.072905704	0.15783	-5.665	0.43479	T	0.1099383838119479	0.09235	0.064	0.04002	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.423944	0.18411	13.72	0.84130369696714713	0.15114	0.10893	0.16265	N	AEFBI	0.102383	0.20540	N	-0.791199834361241	0.13538	0.667666	-0.751181007533119	0.15693	0.8266299	0.999583868652927	0.40607	0.766844	0.99359	0	0.626922	0.53725	0	0.851219	0.99655	0	0.604944	0.38103	0	.	.	4.29	-0.297	0.12185	0.229000	0.17614	0.016000	0.13516	0.580000	0.29708	0.000000	0.06391	0.598000	0.25705	0.968000	0.53726	0.0:0.5136:0.1766:0.3098	3.995	0.09046	260	0.89800	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005045	0.000000	0.000000	0.002941	0.000000	0.008621	0.012195	0.011364	0.05	853.43	34	chr16	29813466	.	C	G	853.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=397;ExcessHet=0;FS=3.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-2.003;SOR=0.346	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1251	9	0	1	0
chr16	29813701	29813701	C	T	exonic	PRRT2	.	nonsynonymous SNV	PRRT2:NM_001256442:exon2:c.C647T:p.P216L,PRRT2:NM_001256443:exon2:c.C647T:p.P216L,PRRT2:NM_145239:exon2:c.C647T:p.P216L	Convulsions, familial infantile, with paroxysmal choreoathetosis, Autosomal dominant;Episodic kinesigenic dyskinesia 1, Autosomal dominant;Seizures, benign familial infantile, 2, Autosomal dominant	0	1502	15	0	5	20	0.00496853	.	.	YES	102388	Seizure|Infantile_convulsions_and_choreoathetosis|Seizures,_benign_familial_infantile,_2|Episodic_kinesigenic_dyskinesia_1|Episodic_kinesigenic_dyskinesia|not_provided|Inborn_genetic_diseases|not_specified	Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,Orphanet:31709|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751,Orphanet:306|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200,Orphanet:98809|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200,Orphanet:98809|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.341	.	0.0057	0.00239617	0.0077	0.0015	0.0013	0.0001	0.0137	0.0111	0.0043	0.0036	0.006507	1006	154602	rs76335820	0.0096	0.0095	0.0097	0.0095	0.0112	0.0095	0.0094	0.0110	0.0109	0.0011	0.0027	0.0007	0	0.0128	0.0027	0.0112	0.0063	0.0035	0.0063	0.0063	0.0066	0.0060	0.0097	0.0060	0.0059	0.0091	0.0089	0.0017	0	0.0041	0.0012	0	0.0130	0.0034	0.0097	0.0047	0.0039	0.0	0.91255	D	0.015	0.66756	D	0.991	0.67487	D	0.831	0.65474	P	0.007550	0.31331	N	0.303702	0.999938	0.51612	D	0.895	0.22405	L	-2.78	0.92667	D	0.38	0.06612	N	0.323	0.36464	0.402	0.89119	D	0.622	0.86676	D	10	0.008844793	0.00200	T	.	.	.	0.341	0.66297	.	.	0.976547370802	0.97629	0.3560511839605567	0.35519	0.863688015342	0.69086	0.577106118202	0.49677	T	0.021672	0.16835	T	-0.235469	0.15931	T	-0.100624	0.63350	T	0.0210694334475294	0.00809	T	0.838216	0.51127	T	0.22146279	0.44724	0.3419317	0.59926	0.19322316	0.41023	0.3408161	0.59829	-3.693	0.22152	T	0.4533608968774695	0.53679	0.181	0.62888	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.490871	0.70148	25.5	0.99884238346807741	0.95970	0.74011	0.36201	D	AEFBI	0.507554	0.53780	D	0.233231505349053	0.52814	3.453444	0.190139361039524	0.49306	3.135342	0.999999995407312	0.74766	0.766844	0.99359	0	0.514364	0.08380	0	0.851219	0.99655	0	0.613276	0.41899	0	.	.	3.9	3.9	0.44240	2.276000	0.43067	7.643000	0.63297	0.599000	0.40250	0.144000	0.23566	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	13.795	0.62654	258	0.89879	.;.;.;.;.;.;.;.;.	.	.	.	.	rs76335820	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	871.43	34	chr16	29813701	.	C	T	871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.806;DP=415;ExcessHet=0;FS=4.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1251	9	0	1	0
chr16	30112751	30112751	C	G	exonic	GDPD3	.	nonsynonymous SNV	GDPD3:NM_024307:exon3:c.G225C:p.Q75H	.	419	1094	8	1	0	10	0.00454959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	7.7e-05	0.0161741	0.0079	0	0.0008	0	0	3.053e-05	0.0112	0.0558	0.0068757	1063	154602	rs375485050	0.0034	0.0034	0.0019	0.0050	0.0545	0.0033	0.0033	0.0532	0.0527	0.0002	0.0001	3.827e-05	0.0002	0	0.0021	3.957e-05	0.0035	0.0545	0.0019	0.0020	0.0010	0.0029	0.0600	0.0018	0.0017	0.0543	0.0521	0.0001	0	0	0	0.0002	0	0	0	0	0.0600	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000493	0.43931	N	0.239919	0.793514	0.29198	N	0.11	0.08516	N	2.64	0.12780	T	3.8	0.00066	N	0.221	0.24758	-0.9536	0.40345	T	0.017	0.06855	T	10	0.004280716	0.00086	T	.	.	.	0.063	0.18251	0.625	0.76028	0.223847106136	0.22009	0.8072162313784973	0.80676	0.19774465149	0.22142	0.309840738773	0.11883	T	0.003442	0.02849	T	-0.632709	0.00092	T	-0.642143	0.09514	T	0.000650241616935696	0.00006	T	0.878012	0.59262	D	0.079382144	0.18133	0.05962705	0.11224	0.079382144	0.18132	0.05962705	0.11223	-4.357	0.28968	T	.	.	0.166	0.36653	B	.	.	0.355082	0.07282	3.886	0.62003030266386105	0.06852	0.22976	0.21925	N	AEFDGBHCI	0.120741	0.23506	N	-0.756391999931643	0.14460	0.7204837	-0.625564516550365	0.18837	1.00806	0.999999999954965	0.74766	0.653496	0.48692	0	0.858003	0.99906	0	0.535252	0.11790	0	0.683535	0.66460	0	.	.	5.57	0.963	0.18769	0.009000	0.13117	-0.510000	0.08751	-0.217000	0.08171	0.978000	0.35038	0.031000	0.21272	0.524000	0.29567	0.2936:0.4213:0.2851:0.0	8.196	0.30556	140	0.94439	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006048	0.000000	0.000000	0.002924	0.000000	0.000000	0.003067	0.026515	0.1	2392.14	39	chr16	30112751	.	C	G	2392.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.751;DP=501;ExcessHet=0.2348;FS=0.519;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=1.72;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	8	0	2	0
chr16	30121836	30121836	G	C	exonic	MAPK3	.	nonsynonymous SNV	MAPK3:NM_001040056:exon2:c.C341G:p.A114G,MAPK3:NM_001109891:exon2:c.C341G:p.A114G,MAPK3:NM_002746:exon2:c.C341G:p.A114G	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00831672813316	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs61736373	0.0002	0.0002	0.0002	0.0002	0.0043	0.0001	0.0001	0.0030	0.0026	0	0.0001	0	0	1.878e-05	0.0043	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.897e-05	4.809e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0.0006	0.288	0.15149	T	0.367	0.18018	T	0.0	0.14184	B	0.002	0.19048	B	0.001497	0.38855	N	0.290510	0.965175	0.81001	D	0.56	0.15190	N	0.99	0.41750	T	-1.08	0.31576	N	0.217	0.28616	-1.0581	0.12235	T	0.062	0.25994	T	10	0.11001718	0.20547	T	0.008317	0.22029	T	0.020	0.03691	.	.	0.780492144191	0.77847	0.11723864153372086	0.11651	0.658889439953	0.58774	0.514886856079	0.40907	T	0.166817	0.51321	T	-0.446337	0.01187	T	-0.562753	0.16119	T	0.0287946737972913	0.01806	T	0.89621	0.63872	D	0.2789433	0.50946	0.19636172	0.43362	0.2789433	0.50946	0.19636172	0.43361	-5.93	0.50101	T	.	.	0.081	0.11749	B	.;.;.;.;.	.;.;.;.;.	4.313605	0.65958	24.9	0.97427858710050308	0.33911	0.86912	0.46301	D	AEFDGBHCI	0.498334	0.53248	N	-0.0412861623660659	0.39992	2.367522	0.0857258348816602	0.43830	2.676668	0.99999960249252	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.643519	0.47002	0	0.56214	0.19341	0	.	.	5.48	4.5	0.54382	3.232000	0.51003	6.548000	0.55903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1438:0.5765:0.2797	8.710	0.33537	150	0.94078	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	2116.14	34	chr16	30121836	.	G	C	2116.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.58;DP=488;ExcessHet=0.2348;FS=4.765;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.266;SOR=0.999	GT:AD:DP:GQ:PL	0/1:55,43:98:99:957,0,1261	8	0	2	0
chr16	30429948	30429948	G	C	exonic	DCTPP1	.	nonsynonymous SNV	DCTPP1:NM_024096:exon1:c.C33G:p.D11E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00165325703926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.11844	T	0.91	0.02961	T	0.0	0.02946	B	0.001	0.04355	B	0.520127	0.05197	N	1.269000	1	0.19694	N	1.955	0.52871	M	.	.	.	0.01	0.06868	N	0.138	0.13626	-1.0163	0.24916	T	0.068	0.27777	T	9	0.041727006	0.02854	T	0.001653	0.02702	T	0.025	0.05312	0.083	0.00760	0.130388298395	0.12655	0.44272815429882256	0.44189	0.173881742231	0.19581	0.499369472265	0.38740	T	0.012976	0.11307	T	-0.322186	0.06720	T	-0.700574	0.05795	T	0.0607705085701298	0.07290	T	0.283372	0.04986	T	0.054680977	0.10523	0.04122553	0.04637	0.054680977	0.10522	0.04122553	0.04637	-2.425	0.05288	T	.	.	0.093	0.13923	B	.	.	0.387706	0.07593	4.253	0.87762683953483833	0.17463	0.08054	0.14029	N	AEFDGBHCI	0.140086	0.26189	N	-1.20390910222911	0.04942	0.2241752	-1.28543996772473	0.04627	0.2186732	0.999999999999925	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.53	-3.01	0.05132	0.063000	0.14285	0.265000	0.16590	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1783:0.4671:0.224:0.1306	3.231	0.06348	219	0.91485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	442.43	41	chr16	30429948	.	G	C	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.424;SOR=0.804	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1110	9	0	1	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.1	706.14	51	chr16	30525595	.	T	C	706.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.484;DP=443;ExcessHet=0.2348;FS=0.811;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=1.04;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,120,1800:.	8	0	2	0
chr16	30725022	30725024	GTT	-	exonic	SRCAP	.	nonframeshift deletion	SRCAP:NM_006662:exon25:c.5598_5600del:p.F1867del	Floating-Harbor syndrome, Autosomal dominant	11	1506	5	0	0	5	0.00165728	.	.	.	341193	SRCAP-related_disorder|not_provided|Floating-Harbor_syndrome	.|MedGen:C3661900|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0011	9.752e-05	0.0006	0.0001	0	0.0004	0.0033	0.0057	0.0008667	134	154602	rs565950672	0.0007	0.0007	0.0005	0.0008	0.0060	0.0006	0.0006	0.0055	0.0054	0.0004	0.0010	0.0002	2.519e-05	3.746e-05	0.0049	0.0003	0.0009	0.0060	0.0006	0.0006	0.0004	0.0008	0.0046	0.0005	0.0004	0.0031	0.0026	9.622e-05	0	0.0017	0	0	9.429e-05	0.0034	0.0004	0.0019	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.010101	0.008152	0.005848	0.000000	0.000000	0.003049	0.011364	0.05	2955.39	41	chr16	30725021	.	CGTT	C	2955.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.762;DP=518;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.56;ReadPosRankSum=2.13;SOR=0.602	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,102,1493	9	0	1	0
chr16	30757015	30757015	G	A	exonic	PHKG2	.	nonsynonymous SNV	PHKG2:NM_000294:exon10:c.G1139A:p.G380E	Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0135069990838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.24372	T	0.238	0.39040	T	0.03	0.20002	B	0.011	0.15521	B	0.104343	0.19707	N	0.428502	1	0.81001	D	1.245	0.31408	L	-0.51	0.70597	T	0.29	0.04161	N	0.244	0.38335	-1.0184	0.24236	T	0.100	0.37290	T	9	0.18824118	0.34371	T	0.013507	0.32968	T	0.063	0.18251	0.292	0.25400	0.829901776571	0.82828	0.20828773629063912	0.20744	0.476650202414	0.46791	.	.	.	0.208669	0.56867	T	-0.0363655	0.46486	T	-0.290013	0.45772	T	0.382868483047775	0.28293	T	0.757524	0.38090	T	0.060579617	0.12446	0.08576688	0.19823	0.060579617	0.12445	0.08576688	0.19823	-2.92	0.09345	T	.	.	0.119	0.30184	B	.;.	.;.	2.849106	0.37614	20.5	0.98987916649640417	0.49882	0.93451	0.58252	D	AEFBCI	0.727985	0.67615	D	-0.0951472951920175	0.37606	2.190223	0.0648046961760952	0.42793	2.59467	0.999879591382078	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.85	3.83	0.43287	4.660000	0.61206	6.546000	0.55897	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0738:0.2807:0.6455:0.0	9.206	0.36451	10	0.99061	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2717.14	35	chr16	30757015	.	G	A	2717.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=491;ExcessHet=0.2348;FS=0.529;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.307;SOR=0.648	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1405,0,1404	8	0	2	0
chr16	30782443	30782443	C	-	exonic	ZNF629	.	frameshift deletion	ZNF629:NM_001080417:exon3:c.1885delG:p.A629Lfs*71,ZNF629:NM_001345970:exon3:c.1843delG:p.A615Lfs*71	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1151.39	36	chr16	30782442	.	GC	G	1151.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.931;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.93;ReadPosRankSum=0.299;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1043	9	0	1	0
chr16	30902438	30902438	C	T	exonic	CTF1	.	nonsynonymous SNV	CTF1:NM_001142544:exon3:c.C502T:p.P168S,CTF1:NM_001330:exon3:c.C505T:p.P169S	.	.	.	.	.	.	.	.	.	.	.	1409611	not_provided|Dilated_Cardiomyopathy,_Dominant	MedGen:C3661900|MedGen:CN239310	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.117157627093	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs746337311	1.107e-05	1.3e-05	1.245e-05	9.639e-06	0.0008	6.42e-06	5.02e-06	0.0002	0.0001	0	0	0	0	0	0.0008	7.882e-06	5.871e-05	0	6.593e-06	6.568e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.429	0.09572	T	0.585	0.08361	T	0.0	0.02946	B	0.001	0.04355	B	0.739314	0.06418	N	1.125240	0.999936	0.19363	N	0.29	0.10111	N	-0.96	0.75553	T	-0.35	0.12847	N	0.022	0.00372	-0.9590	0.39368	T	0.168	0.50778	T	10	0.079146504	0.12699	T	0.117158	0.79685	D	0.162	0.41843	0.384	0.40298	0.607385014995	0.60423	0.16810486301222155	0.16730	1.09102985034	0.77430	0.849205195904	0.89494	D	0.219632	0.58270	T	-0.211179	0.19213	T	-0.54112	0.18187	T	0.0443538963151602	0.04484	T	0.471653	0.14010	T	0.026262037	0.01662	0.043712713	0.05501	0.026262037	0.01662	0.043712713	0.05501	-3.192	0.12726	T	0.0947803081620262	0.06381	0.078	0.06710	B	.;.	.;.	0.614908	0.09835	6.597	0.91038486452410539	0.20290	0.02437	0.06869	N	AEFDGBHCI	0.025939	0.01862	N	-1.1482025208841	0.05809	0.2658026	-1.16759163493227	0.06458	0.3109111	0.999999983788933	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.06	-1.31	0.08749	-0.177000	0.09789	0.159000	0.15383	0.439000	0.21057	0.000000	0.06391	0.008000	0.19753	0.004000	0.06068	0.0:0.2799:0.3372:0.3829	4.144	0.09672	63	0.97314	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	224.43	24	chr16	30902438	.	C	T	224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.487;DP=230;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.176;SOR=0.569	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,760	9	0	1	0
chr16	30979498	30979498	C	T	exonic	SETD1A	.	nonsynonymous SNV	SETD1A:NM_014712:exon14:c.C3712T:p.R1238C	.	.	.	.	.	.	.	.	.	.	.	3900613	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.412	0.722368054065	.	.	4.214e-05	0	0	0.0004	0	0	0	7.501e-05	1.94e-05	3	154602	rs774783241	2.413e-05	2.463e-05	2.193e-05	2.635e-05	5.862e-05	1.752e-05	1.551e-05	2.213e-05	1.444e-05	3e-05	0	0	2.547e-05	0	0	2.348e-05	3.338e-05	5.862e-05	3.285e-05	3.283e-05	1.285e-05	5.379e-05	0.0001	1.261e-05	7.98e-06	2.259e-05	9.07e-06	4.825e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.046	0.49120	D	0.999	0.77913	D	0.799	0.58136	P	0.000265	0.46590	D	0.139998	0.859396	0.28379	N	1.04	0.26193	L	-3.62	0.95077	D	-1.81	0.42575	N	0.414	0.45426	0.378	0.88771	D	0.776	0.92395	D	10	0.5301858	0.63139	D	0.722368	0.97756	D	0.412	0.72328	0.313	0.28774	0.5892461421	0.58599	0.5347842559508702	0.53403	0.304605667835	0.32764	0.743580460548	0.73499	T	0.058544	0.30870	T	-0.00828956	0.50504	T	-0.0130153	0.69488	D	0.2120021879673	0.21058	T	0.749925	0.37107	T	0.24542314	0.47501	0.1236848	0.29823	0.24542314	0.47501	0.1236848	0.29822	-6.312	0.48817	T	.	.	0.191	0.41016	B	.	.	3.971235	0.58314	24.0	0.98536482690012483	0.42657	0.42932	0.26987	N	AEFBI	0.070935	0.14099	N	0.312195611577641	0.56773	3.842726	0.314221267809583	0.56376	3.800712	0.994778845429694	0.33794	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.95	4.95	0.64894	1.491000	0.35192	7.527000	0.59855	0.599000	0.40250	0.953000	0.33222	1.000000	0.68203	0.247000	0.23184	0.3051:0.6949:0.0:0.0	10.853	0.45988	36	0.98055	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	479.43	36	chr16	30979498	.	C	T	479.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.811;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=0.801;SOR=0.628	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1286	9	0	1	0
chr16	31076950	31076950	A	C	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.A626C:p.N209T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00563634023875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.91255	D	0.011	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	.	.	.	.	0.745707	0.33872	D	2.175	0.60977	M	3.1	0.08283	T	-2.25	0.50337	N	0.455	0.49237	-1.0161	0.24980	T	0.042	0.17994	T	9	0.2752136	0.45079	T	0.005636	0.14560	T	0.132	0.35948	0.227	0.15257	0.515259903717	0.51168	0.4050556992899627	0.40421	0.745244495564	0.63480	0.745844304562	0.73833	T	0.03682	0.24246	T	-0.179911	0.23749	T	-0.496206	0.22742	T	0.875014901161194	0.52488	D	0.755524	0.38711	T	0.16358797	0.36510	0.21670878	0.46308	0.16358797	0.36509	0.21670878	0.46307	-3.027	0.10475	T	.	.	0.527	0.68123	A	.;.;.	.;.;.	3.721802	0.53189	23.3	0.99502815887965335	0.68147	0.97429	0.74694	D	AEFDBCI	0.575422	0.57782	D	0.539262164566397	0.69429	5.355856	0.587058056165243	0.74012	6.065137	0.999999470331451	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.92	5.92	0.95557	0.407000	0.20770	.	.	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.347	0.74064	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	967.43	36	chr16	31076950	.	A	C	967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=401;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.492;SOR=0.843	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1166	9	0	1	0
chr16	31077897	31077897	G	A	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.G1573A:p.G525R	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	0.00299521	0.0011	0	0	0	0	7.602e-05	0.0011	0.0073	0.0009444	146	154602	rs112578158	0.0005	0.0005	0.0003	0.0007	0.0073	0.0005	0.0004	0.0069	0.0067	0	0	0	0	0	0	4.227e-05	0.0004	0.0073	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0002	0.0050	0.0044	4.812e-05	0	0	0	0	0	0	1.47e-05	0	0.0068	0.045	0.41364	D	0.342	0.17910	T	0.399	0.34817	B	0.047	0.24832	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	3.09	0.08371	T	-0.51	0.16187	N	0.177	0.19055	-0.9909	0.32373	T	0.016	0.06569	T	9	0.004032612	0.00078	T	.	.	.	0.067	0.19503	0.74	0.87232	0.40017627803	0.39633	0.3702817578439055	0.36942	0.2283133954	0.25380	0.421809971333	0.28086	T	0.017785	0.14448	T	-0.551516	0.00286	T	-0.561266	0.16258	T	0.0249082750788943	0.01261	T	0.670133	0.27879	T	0.05697767	0.11281	0.07399483	0.16140	0.05697767	0.11281	0.07399483	0.16140	-3.611	0.18016	T	.	.	0.129	0.27493	B	.;.	.;.	2.183015	0.27831	17.59	0.87846659357382451	0.17525	0.21674	0.21485	N	AEFBHCI	0.049231	0.08484	N	-0.631682770635591	0.17997	0.9308802	-0.661231870052596	0.17934	0.955801	0.999897185101	0.45129	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	4.96	4.01	0.45821	0.695000	0.25205	.	.	0.590000	0.31872	0.000000	0.06391	1.000000	0.68203	0.028000	0.12845	0.0863:0.1603:0.7534:0.0	8.076	0.29882	41	0.97903	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1511.43	66	chr16	31077897	.	G	A	1511.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=538;ExcessHet=0;FS=0.666;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=0.768;SOR=0.777	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1302	9	0	1	0
chr16	31361187	31361187	T	A	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon9:c.T986A:p.L329Q,ITGAX:NM_001286375:exon9:c.T986A:p.L329Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.0801954331762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767778307	6.846e-07	6.84e-07	1.362e-06	0	2.245e-05	0	0	.	.	0	2.245e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99561	0.42773	D	3.89	0.96051	H	-2.13	0.86349	D	-5.64	0.86914	D	0.864	0.86085	0.914	0.95869	D	0.847	0.94891	D	9	0.9698998	0.96560	D	0.080195	0.73405	D	0.808	0.93777	0.854	0.95434	0.915887042927	0.91504	0.9694184572018145	0.96929	0.784066996739	0.65421	0.600350499153	0.52953	T	0.825819	0.95789	D	0.263655	0.79866	D	0.223811	0.84367	D	0.9824352424892	0.74489	D	0.959104	0.84591	D	0.9405396	0.95302	0.877246	0.93369	0.9405396	0.95303	0.877246	0.93370	-15.085	0.96048	D	.	.	0.908	0.83302	P	.;.	.;.	5.076869	0.84710	28.4	0.99608178535918246	0.74634	0.95234	0.63935	D	AEFDBI	0.730370	0.67778	D	0.858466366864706	0.89586	10.03246	0.754053755029323	0.86458	8.89609	0.999999588206404	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.256000	0.72433	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	12.647	0.56103	287	0.88635	von Willebrand factor, type A|von Willebrand factor, type A;von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	574.43	33	chr16	31361187	.	T	A	574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=384;ExcessHet=0;FS=3.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.7;ReadPosRankSum=-0.151;SOR=0.639	GT:AD:DP:GQ:PL	0/0:30,0:30:84:0,84,1260	9	0	1	0
chr16	31397883	31397883	T	A	exonic	ITGAD	.	nonsynonymous SNV	ITGAD:NM_001318185:exon5:c.T401A:p.I134N,ITGAD:NM_005353:exon5:c.T401A:p.I134N	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00699941695777	.	0.00119808	0.0008	0	9.705e-05	0	0	1.704e-05	0.0026	0.0056	0.0006015	93	154602	rs369894184	0.0003	0.0003	0.0001	0.0004	0.0042	0.0002	0.0002	0.0039	0.0037	0	0	0	2.519e-05	0	0.0002	2.698e-06	0.0003	0.0042	0.0002	0.0002	0.0001	0.0002	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.529	0.07048	T	0.493	0.11443	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	2.075	0.57047	M	0.29	0.58897	T	-1.8	0.42384	N	0.443	0.48134	-1.0194	0.23910	T	0.080	0.31675	T	9	0.0077854395	0.00177	T	0.006999	0.18541	T	0.098	0.28162	0.421	0.46365	0.503002171853	0.49937	0.4777305572066261	0.47693	0.385522231829	0.39847	0.378395617008	0.22028	T	0.077179	0.35594	T	-0.416604	0.01799	T	-0.371207	0.36748	T	0.0187435969717741	0.00586	T	0.435056	0.11905	T	0.1496252	0.34101	0.11909284	0.28747	0.1496252	0.34101	0.11909284	0.28746	-6.095	0.47068	T	.	.	0.128	0.27161	B	.	.	0.537579	0.09061	5.845	0.85749612160188893	0.16088	0.03484	0.08648	N	AEFDBHI	0.053873	0.09747	N	-0.61861189912111	0.18386	0.9541069	-0.76586787208219	0.15333	0.8058877	0.0329869229104962	0.14083	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.71	1.21	0.20240	-0.422000	0.07110	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.076000	0.17014	0.3334:0.1231:0.0:0.5435	2.805	0.05094	454	0.79125	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	523.43	34	chr16	31397883	.	T	A	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.846;DP=370;ExcessHet=0;FS=2.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=-0.75;SOR=0.568	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	9	0	1	0
chr16	31499358	31499358	C	T	exonic	RUSF1	.	nonsynonymous SNV	RUSF1:NM_022744:exon5:c.G544A:p.A182T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.0144975899288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.29554	T	0.111	0.37173	T	0.592	0.39119	P	0.45	0.46092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.12	0.38718	T	-2.05	0.47008	N	0.77	0.80180	-1.0857	0.06281	T	0.079	0.31314	T	10	0.48178387	0.60474	T	0.014498	0.34657	T	0.204	0.49076	0.496	0.58520	0.368743488249	0.36480	0.7741073043962954	0.77360	0.2742638541	0.29923	.	.	.	0.034361	0.23385	T	0.133476	0.67697	D	-0.0460469	0.67292	D	0.938335716724396	0.60886	D	0.907509	0.67561	D	0.19247292	0.40918	0.2061273	0.44812	0.19247292	0.40918	0.2061273	0.44811	-8.007	0.61118	D	.	.	0.345	0.56218	A	.;.;.;.;.	.;.;.;.;.	4.733321	0.76257	26.5	0.99877065165474666	0.95410	0.98552	0.84009	D	AEFBI	0.839281	0.75671	D	0.197891745168037	0.51097	3.293788	0.368573740516835	0.59635	4.142952	0.999999999999194	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	6.987000	0.75976	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.821	0.88562	318	0.87072	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3906.43	337	chr16	31499358	.	C	T	3906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.257;DP=666;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=-0.854;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1267	9	0	1	0
chr16	31508226	31508226	C	T	exonic	RUSF1	.	nonsynonymous SNV	RUSF1:NM_022744:exon1:c.G148A:p.V50I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00139776	0.0030	0	0	0.0254	0.0510	0.0030	0.0056	0.0002	0.0011384	176	154602	rs181629545	0.0009	0.0009	0.0010	0.0008	0.0102	0.0008	0.0008	0.0093	0.0090	3.118e-05	0	0.0011	0.0102	0.0083	0.0011	0.0003	0.0012	0.0003	0.0011	0.0011	0.0010	0.0013	0.0060	0.0010	0.0009	0.0043	0.0038	0	0	0	0.0023	0.0060	0.0059	0	0.0010	0.0014	0.0004	0.052	0.39097	T	0.767	0.04523	T	0.039	0.21116	B	0.018	0.18489	B	0.324342	0.04093	N	1.414190	1	0.19694	N	.	.	.	0.92	0.44461	T	-0.21	0.10308	N	0.134	0.13484	-1.0534	0.13466	T	0.047	0.20116	T	10	0.003571093	0.00064	T	.	.	.	0.041	0.10877	.	.	0.101711395817	0.09552	0.1551200169064236	0.15433	0.0826006569222	0.09321	.	.	.	0.011833	0.11608	T	-0.621778	0.00107	T	-0.660791	0.08212	T	0.0102453667879436	0.00139	T	0.585341	0.21331	T	0.024682693	0.01325	0.03027782	0.01464	0.024682693	0.01325	0.03027782	0.01464	-5.179	0.38728	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	1.086255	0.14694	11.25	0.9898733147692732	0.49861	0.07952	0.13936	N	AEFDGBHCI	0.047239	0.07931	N	-1.01712099735147	0.08248	0.3860756	-1.03380154731602	0.09047	0.4480008	0.99999999999805	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.99	0.714	0.17336	0.067000	0.14378	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.5649:0.1618:0.2733	4.516	0.11344	342	0.85871	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002060	0.000000	0.000000	0.005952	0.000000	0.000000	0.003165	0.003788	0.05	695.43	33	chr16	31508226	.	C	T	695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.388;DP=362;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.711;SOR=0.756	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,103,1056	9	0	1	0
chr16	31916369	31916369	G	A	exonic	ZNF267	.	nonsynonymous SNV	ZNF267:NM_003414:exon4:c.G2120A:p.R707Q,ZNF267:NM_001265588:exon5:c.G2024A:p.R675Q	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000816012745926	0.0014	0.000798722	0.0016	0.0002	0.0011	0.0001	0	0.0024	0.0022	0.0010	0.0014877	230	154602	rs146914846	0.0012	0.0012	0.0012	0.0012	0.0049	0.0012	0.0011	0.0035	0.0030	0.0002	0.0013	0.0144	5.042e-05	9.364e-05	0.0049	0.0009	0.0022	0.0012	0.0012	0.0012	0.0010	0.0014	0.0021	0.0011	0.0010	0.0015	0.0013	0.0004	0	0.0021	0.0122	0	0	0.0104	0.0011	0.0029	0.0017	0.851	0.02732	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999777	0.20412	N	-0.195	0.04202	N	2.26	0.17596	T	0.1	0.05810	N	0.039	0.01274	-0.9207	0.45458	T	0.010	0.03537	T	9	0.0035986304	0.00065	T	8.16E-4	0.00649	T	0.018	0.03083	.	.	0.0611884634855	0.05136	0.021880521238061168	0.02140	0.147075874367	0.16591	0.206648498774	0.00677	T	0.002559	0.01954	T	-0.687862	0.00043	T	-0.78547	0.02292	T	7.20058960723691e-05	0.00001	T	0.433057	0.11799	T	0.015028422	0.00119	0.028979275	0.01186	0.015028422	0.00119	0.028979275	0.01186	-0.836	0.00835	T	.	.	0.085	0.10400	B	.	.	0.543270	0.09120	5.902	0.47951912305285999	0.03962	0.00001	0.00044	N	AEFDBHCI	0.019052	0.00628	N	-1.80176376856197	0.00541	0.02328854	-1.82422774107859	0.00685	0.03046993	0.939816240523632	0.27404	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.468	-0.935	0.09893	0.083000	0.14718	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.7045:0.0:0.2955:0.0	4.188	0.09869	680	0.59965	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.005435	0.005848	0.050000	0.000000	0.009146	0.003788	0.05	1744.43	46	chr16	31916369	.	G	A	1744.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=486;ExcessHet=0;FS=5.867;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.3;ReadPosRankSum=-1.303;SOR=1.156	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr16	46595649	46595649	G	A	exonic	SHCBP1	.	nonsynonymous SNV	SHCBP1:NM_001324319:exon9:c.C1133T:p.T378M,SHCBP1:NM_001324318:exon10:c.C1253T:p.T418M,SHCBP1:NM_024745:exon10:c.C1367T:p.T456M	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.0310935631243	.	.	5.781e-05	0	0	0.0002	0	4.507e-05	0	0.0001	4.53e-05	7	154602	rs773704460	2.6e-05	2.599e-05	1.77e-05	3.438e-05	0.0002	1.933e-05	1.692e-05	2.375e-05	1.43e-05	8.962e-05	0	0	0	0	0.0002	1.529e-05	0.0002	5.8e-05	0.0001	0.0001	0.0002	4.035e-05	0.0008	7.091e-05	5.747e-05	0.0005	0.0004	7.237e-05	0	0.0008	0	0	0	0	1.47e-05	0.0005	0	0.01	0.56456	D	0.04	0.50809	D	0.808	0.45299	P	0.34	0.42389	B	0.009222	0.30456	N	0.376195	0.999998	0.08975	N	1.955	0.52871	M	-1.53	0.81559	D	-2.66	0.56945	D	0.645	0.65673	-0.5052	0.68461	T	0.362	0.72322	T	10	0.5437985	0.63868	D	0.031094	0.53261	D	0.329	0.65126	0.482	0.56302	0.944421479554	0.94383	0.7041827561695405	0.70360	0.309715011128	0.33285	0.569725751877	0.48639	T	0.18153	0.53324	T	-0.103883	0.35782	T	-0.183398	0.56207	T	0.0791323618660946	0.09875	T	0.89721	0.64041	D	0.06994099	0.15364	0.09965288	0.23801	0.06994099	0.15364	0.09965288	0.23800	-5.123	0.38148	T	.	.	0.082	0.08851	B	.	.	2.929142	0.38908	20.8	0.9847039825255326	0.41849	0.20610	0.21104	N	AEFBI	0.092978	0.18818	N	-0.133254279256919	0.35950	2.071532	-0.228897339132752	0.30505	1.718182	0.466271622622559	0.20668	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.03	4.03	0.46115	1.593000	0.36297	7.007000	0.57217	0.585000	0.30472	0.241000	0.24758	1.000000	0.68203	0.583000	0.30967	0.093:0.0:0.7257:0.1813	6.478	0.21244	376	0.83959	Right handed beta helix domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1688.43	34	chr16	46595649	.	G	A	1688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.454;DP=427;ExcessHet=0;FS=3.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=1.69;SOR=0.44	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr16	48200470	48200470	G	A	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon14:c.C1888T:p.R630W,ABCC11:NM_001370496:exon15:c.C1888T:p.R630W,ABCC11:NM_001370497:exon15:c.C1888T:p.R630W,ABCC11:NM_032583:exon16:c.C1888T:p.R630W,ABCC11:NM_145186:exon16:c.C1888T:p.R630W	.	0	1518	4	0	0	4	0.00131579	.	.	.	726652	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.594	0.0613049088917	0.0056	0.00259585	0.0040	0.0029	0.0036	0	0.0021	0.0054	0.0058	0.0020	0.0040038	619	154602	rs41282045	0.0054	0.0054	0.0055	0.0053	0.0062	0.0053	0.0053	0.0061	0.0061	0.0027	0.0053	0.0006	7.56e-05	0.0019	0.0012	0.0062	0.0055	0.0021	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0068	0.0064	0.0031	0	0.0080	0.0012	0	0.0015	0.0068	0.0062	0.0066	0.0012	0.0	0.91255	D	0.0	0.92824	D	0.333	0.90584	B	0.061	0.97372	B	0.000016	0.62929	N	0.067924	1	0.81001	D	3.045	0.86684	M	-1.53	0.81559	D	-7.7	0.95634	D	0.442	0.49146	0.018	0.82625	D	0.568	0.84354	D	10	0.02933821	0.01061	T	0.061305	0.68287	D	0.594	0.83857	.	.	0.87763515594	0.87644	0.6762308199441927	0.67562	0.239766953823	0.26521	0.326112896204	0.14347	T	0.717009	0.91972	D	-0.115197	0.33911	T	0.0650577	0.74580	D	0.112282171109764	0.13659	T	0.910809	0.68393	D	0.85933286	0.88035	0.79345155	0.87860	0.85933286	0.88036	0.79345155	0.87860	-8.484	0.64323	D	.	.	0.133	0.28693	B	.;.;.;.	.;.;.;.	3.278626	0.44915	22.0	0.99918377060229635	0.98586	0.86330	0.45589	D	AEFI	0.667907	0.63587	D	0.216599410273947	0.52004	3.37741	0.146981402743337	0.46981	2.93546	0.0446572718013259	0.14621	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.61	1.19	0.20120	0.958000	0.28825	0.158000	0.15372	0.662000	0.56354	0.978000	0.35038	0.000000	0.08366	0.743000	0.35541	0.1727:0.0:0.5052:0.3221	4.138	0.09645	530	0.73653	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.035354	0.004076	0.000000	0.000000	0.008621	0.003049	0.003788	0.05	782.43	38	chr16	48200470	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.691;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-0.957;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr16	48227870	48227870	G	A	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon3:c.C331T:p.R111C,ABCC11:NM_001370496:exon4:c.C331T:p.R111C,ABCC11:NM_001370497:exon4:c.C331T:p.R111C,ABCC11:NM_032583:exon5:c.C331T:p.R111C,ABCC11:NM_145186:exon5:c.C331T:p.R111C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0189597287759	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1020990116	7.525e-06	7.525e-06	1.089e-05	4.125e-06	0.0001	4.04e-06	2.95e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	5.396e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.048	0.59159	D	0.116	0.40458	B	0.011	0.27082	B	0.000301	0.45977	D	0.132232	1	0.08975	N	1.935	0.51832	L	1.09	0.39223	T	-3.46	0.71997	D	0.333	0.37405	-1.0549	0.13066	T	0.051	0.21611	T	10	0.22685283	0.39550	T	0.01896	0.41188	T	0.068	0.19811	0.542	0.65446	0.40722173914	0.40337	0.3558164566781296	0.35495	0.130101318837	0.14674	0.253724455833	0.04170	T	0.294905	0.66758	T	-0.209282	0.19479	T	-0.52291	0.20001	T	0.197611421346664	0.20283	T	0.710429	0.32156	T	0.17207485	0.37878	0.112539455	0.27154	0.17207485	0.37878	0.112539455	0.27153	-5.163	0.38563	T	.	.	0.117	0.23918	B	.;.;.;.;.	.;.;.;.;.	1.165223	0.15545	11.93	0.98749467777065325	0.45633	0.01986	0.06001	N	AEFBI	0.102201	0.20507	N	-0.859824799440192	0.11808	0.5719566	-0.984312709632334	0.10137	0.508677	0.00108631645915802	0.08206	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	-3.29	0.04706	-0.866000	0.04354	-1.669000	0.04949	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.205000	0.22041	0.1488:0.1113:0.2902:0.4496	2.390	0.04109	509	0.75304	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1247.43	34	chr16	48227870	.	G	A	1247.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.039;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.454;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	9	0	1	0
chr16	49638729	49638729	C	A	exonic	ZNF423	.	nonsynonymous SNV	ZNF423:NM_001330533:exon2:c.G72T:p.Q24H,ZNF423:NM_001271620:exon4:c.G243T:p.Q81H,ZNF423:NM_001379286:exon4:c.G447T:p.Q149H,ZNF423:NM_015069:exon4:c.G423T:p.Q141H	Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0432499108602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.006	0.72224	D	0.999	0.77913	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.989014	0.42131	D	0.365	0.12025	N	0.82	0.48142	T	-2.96	0.61722	D	0.663	0.74098	-0.7956	0.55403	T	0.204	0.56155	T	9	0.7212434	0.73676	D	0.04325	0.60884	D	0.277	0.59375	0.734	0.86719	0.0934897674506	0.08844	0.5257155753126445	0.52495	1.14442420052	0.79035	0.869426608086	0.92486	D	0.50282	0.82256	D	-0.0292611	0.47522	T	-0.279808	0.46822	T	0.979672133922577	0.72954	D	0.911809	0.68723	D	0.68667483	0.77330	0.6053939	0.77062	0.68667483	0.77332	0.6053939	0.77062	-7.208	0.57300	T	0.5783054589254107	0.64521	0.843	0.83869	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.539978	0.71347	25.7	0.99686929684933578	0.79641	0.91517	0.53696	D	AEFDBHCIJ	0.680323	0.64405	D	0.492124618165614	0.66630	4.974894	0.494738635228646	0.67642	5.111285	0.999999999989387	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.698795	0.65105	0	0.699875	0.68795	0	.	.	4.5	4.5	0.54382	4.010000	0.56829	3.390000	0.38061	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.570	0.87829	862	0.33134	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2539.43	42	chr16	49638729	.	C	A	2539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.63;DP=640;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.883;SOR=0.54	GT:AD:DP:GQ:PL	0/0:81,0:81:99:0,120,1800	9	0	1	0
chr16	50105060	50105063	AAAC	-	exonic	HEATR3	.	nonframeshift deletion	HEATR3:NM_001329731:exon14:c.1349_1352del:p.*450*,HEATR3:NM_182922:exon15:c.2042_2045del:p.*681*,HEATR3:NM_001329729:exon16:c.1691_1694del:p.*564*,HEATR3:NM_001329730:exon16:c.1691_1694del:p.*564*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	2.478e-05	0	0	0	0	4.504e-05	0	0	1.94e-05	3	154602	rs777013978	1.991e-05	1.984e-05	2.185e-05	1.795e-05	2.526e-05	1.397e-05	1.208e-05	1.665e-05	1.427e-05	0	0	0	2.526e-05	1.875e-05	0	2.431e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	789.39	33	chr16	50105059	.	TAAAC	T	789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.77;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.45;ReadPosRankSum=2.64;SOR=0.68	GT:AD:DP:GQ:PL	0/0:38,0:38:93:0,93,1395	9	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	314.43	34	chr16	50669118	.	A	G	314.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.867;DP=999;ExcessHet=0.7463;FS=107.622;InbreedingCoeff=-0.1756;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.77;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,35:192:99:0|1:50669118_A_G:238,0,4761:50669118	7	0	3	0
chr16	50710792	50710792	C	G	exonic	NOD2	.	nonsynonymous SNV	NOD2:NM_001293557:exon3:c.C800G:p.T267S,NOD2:NM_001370466:exon4:c.C800G:p.T267S,NOD2:NM_022162:exon4:c.C881G:p.T294S	Blau syndrome, Autosomal dominant	1	1503	17	1	0	19	0.00628099	.	.	.	103775	Blau_syndrome|Regional_enteritis|Autoinflammatory_syndrome|not_provided|Inflammatory_bowel_disease_1	MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580,Orphanet:90340|MeSH:D003424,MedGen:C0678202|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900|MONDO:MONDO:0009960,MedGen:CN260071,OMIM:266600	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	.	7.7e-05	0.000599042	0.0016	0	0	0	0.0159	0.0010	0.0034	0.0015	0.0012936	200	154602	rs104895425	0.0009	0.0009	0.0008	0.0009	0.0018	0.0008	0.0008	0.0016	0.0015	2.987e-05	2.236e-05	0	0	0.0158	0.0014	0.0002	0.0010	0.0018	0.0015	0.0015	0.0007	0.0024	0.0017	0.0013	0.0013	0.0008	0.0006	2.405e-05	0	0	0	0	0.0179	0	0.0004	0.0005	0.0017	0.007	0.59928	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.999378	0.46831	D	2.71	0.79292	M	0.01	0.62459	T	-3.03	0.62747	D	0.487	0.52119	-0.0718	0.80739	T	0.441	0.77928	T	10	0.011494249	0.00251	T	.	.	.	0.453	0.75279	0.663	0.80098	0.796638325416	0.79474	0.6449815059138468	0.64433	0.417046807606	0.42336	0.436996817589	0.30167	T	0.561292	0.85318	D	-0.314858	0.07328	T	-0.249676	0.49848	T	0.0917502078245112	0.11424	T	0.767123	0.39533	T	0.38401026	0.59605	0.37821427	0.62904	0.5141746	0.67924	0.3304562	0.58914	-6.747	0.52163	T	0.6404888967544875	0.71113	0.333	0.55403	B	.;.	.;.	3.646754	0.51738	23.1	0.99442847584936889	0.64870	0.92131	0.55013	D	AEFDBI	0.536069	0.55443	D	0.56547503334926	0.71030	5.589233	0.473089049408269	0.66213	4.922825	0.999999985701156	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.55	4.59	0.56297	2.739000	0.47083	3.264000	0.37112	-0.176000	0.10722	0.987000	0.36337	0.998000	0.33993	0.118000	0.19084	0.0:0.9173:0.0:0.0827	12.683	0.56298	701	0.57775	.;NACHT nucleoside triphosphatase|NACHT nucleoside triphosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1741.43	98	chr16	50710792	.	C	G	1741.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=753;ExcessHet=0;FS=1.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.41;ReadPosRankSum=-0.502;SOR=0.538	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	9	0	1	0
chr16	53157390	53157390	A	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001308319:exon2:c.A1301G:p.H434R,CHD9:NM_001352127:exon2:c.A1301G:p.H434R,CHD9:NM_001382353:exon2:c.A1301G:p.H434R,CHD9:NM_025134:exon2:c.A1301G:p.H434R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0155265363499	8.2e-05	.	2.49e-05	0	0	0	0	4.502e-05	0	0	1.94e-05	3	154602	rs376012427	1.3e-05	1.3e-05	1.361e-05	1.238e-05	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.349e-05	3.313e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.175	0.92824	T	0.267	0.34500	B	0.039	0.29395	B	0.000005	0.62929	D	0.000000	0.949683	0.37662	D	1.735	0.44892	L	0.62	0.53302	T	-1.45	0.65742	N	0.619	0.63459	-0.5326	0.67443	T	0.269	0.64045	T	10	0.19600129	0.35475	T	0.015527	0.36313	T	0.155	0.40530	.	.	0.570342365613	0.56701	0.4735714844621556	0.47276	0.0788734340217	0.08873	0.532048225403	0.43324	T	0.076553	0.37202	T	-0.0368952	0.46410	T	-0.227128	0.52049	T	0.543125510215759	0.34221	D	0.833717	0.50261	T	0.52418566	0.68499	0.50662553	0.71485	0.52418566	0.68500	0.50662553	0.71486	-3.732	0.19791	T	.	.	0.082	0.21877	B	.;.;.;.;.;.	.;.;.;.;.;.	3.311228	0.45497	22.1	0.99401036351522232	0.62794	0.98284	0.81251	D	AEFBI	0.681012	0.64451	D	0.370469263490506	0.59827	4.165592	0.471316961708477	0.66096	4.907925	0.999998277839823	0.74766	0.653281	0.48532	0	0.653731	0.59785	0	0.675528	0.61593	0	0.635551	0.53088	0	.	.	5.69	5.69	0.88346	6.365000	0.73028	7.948000	0.75775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.953	0.79644	635	0.64580	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2378.43	33	chr16	53157390	.	A	G	2378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.25;DP=523;ExcessHet=0;FS=0.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-1.553;SOR=0.637	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1242	9	0	1	0
chr16	53231729	53231729	C	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon9:c.C1034G:p.A345G,CHD9:NM_001352157:exon9:c.C1034G:p.A345G,CHD9:NM_001352158:exon9:c.C935G:p.A312G,CHD9:NM_001382354:exon9:c.C935G:p.A312G,CHD9:NM_001382355:exon9:c.C935G:p.A312G,CHD9:NM_001308319:exon10:c.C2456G:p.A819G,CHD9:NM_001352127:exon10:c.C2456G:p.A819G,CHD9:NM_001382353:exon10:c.C2456G:p.A819G,CHD9:NM_025134:exon10:c.C2456G:p.A819G	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0101559447693	8.5e-05	.	3.335e-05	0	0	0	0	6.034e-05	0	0	2.59e-05	4	154602	rs369431411	1.781e-05	1.779e-05	1.5e-05	2.066e-05	0.0003	1.239e-05	1.053e-05	6.105e-05	2.526e-05	0	0	0	0	0	0.0003	1.891e-05	4.979e-05	0	1.321e-05	1.316e-05	1.291e-05	1.352e-05	2.949e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.949e-05	0	0	0.258	0.17014	T	0.703	0.15206	T	0.0	0.02946	B	0.005	0.11217	B	0.001243	0.39669	N	0.110169	0.949534	0.37656	D	0.25	0.09762	N	-0.69	0.72678	T	-0.29	0.20576	N	0.113	0.10056	-0.8387	0.52733	T	0.195	0.54927	T	10	0.11691192	0.22066	T	0.010156	0.26368	T	0.097	0.27909	.	.	0.198222871337	0.19423	0.3808493604993245	0.37999	0.495656575686	0.48101	0.581760168076	0.50334	T	0.193202	0.61496	T	-0.25243	0.13803	T	-0.420078	0.31065	T	0.114574417471886	0.13891	T	0.826217	0.49813	T	0.09955289	0.23496	0.10731409	0.25834	0.09955289	0.23496	0.10731409	0.25833	-6.098	0.47092	T	.	.	0.091	0.13174	B	.;.;.;.;.	.;.;.;.;.	2.746770	0.35995	20.1	0.99074206165394885	0.51810	0.89905	0.50681	D	AEFBI	0.312437	0.41788	N	-0.200657430973131	0.33107	1.874604	0.0127797163326239	0.40308	2.403432	0.998453000296212	0.36996	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.11	5.11	0.69188	2.113000	0.41525	1.376000	0.25995	0.599000	0.40250	1.000000	0.71638	0.996000	0.32793	0.998000	0.85391	0.0:0.8568:0.1432:0.0	14.971	0.70887	179	0.93046	Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.;.;Chromo domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain|Chromo/chromo shadow domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	888.43	33	chr16	53231729	.	C	G	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.506;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-2.487;SOR=0.788	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr16	53462624	53462624	A	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon11:c.A1529T:p.E510V,RBL2:NM_001323609:exon11:c.A1529T:p.E510V,RBL2:NM_001323610:exon11:c.A1529T:p.E510V,RBL2:NM_001323611:exon11:c.A1307T:p.E436V,RBL2:NM_005611:exon11:c.A1529T:p.E510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.955	0.698021744033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.109126	1	0.81001	D	3.355	0.91145	M	-3.08	0.92560	D	-6.71	0.93060	D	0.987	0.99548	1.020	0.97538	D	0.899	0.96635	D	10	0.98157704	0.98190	D	0.698022	0.97524	D	0.955	0.99221	0.858	0.95662	0.976352431779	0.97609	0.8730617578841169	0.87272	0.906180166241	0.70856	0.533630371094	0.43546	T	0.805702	0.95091	D	0.519561	0.94895	D	0.508537	0.94819	D	0.997274192706533	0.91171	D	0.933207	0.74971	D	0.9087223	0.92176	0.8905836	0.94308	0.9087223	0.92177	0.8905836	0.94308	-15.623	0.97140	D	.	.	0.976	0.90888	P	.;.	.;.	5.149213	0.86240	28.8	0.9880068874977519	0.46445	0.98737	0.86207	D	AEFDBI	0.887082	0.81904	D	0.943380040545503	0.93717	12.22811	0.890194858102133	0.95132	13.33905	0.999999596435209	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	8.054000	0.89239	11.102000	0.86142	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.146	0.81381	440	0.80101	Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box;Retinoblastoma-associated protein, A-box|Retinoblastoma-associated protein, A-box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	830.43	34	chr16	53462624	.	A	T	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.972;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-1.003;SOR=0.606	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1100	9	0	1	0
chr16	53470165	53470165	C	T	exonic	RBL2	.	nonsynonymous SNV	RBL2:NM_001323608:exon15:c.C2225T:p.T742M,RBL2:NM_001323609:exon15:c.C2225T:p.T742M,RBL2:NM_001323610:exon15:c.C2225T:p.T742M,RBL2:NM_001323611:exon15:c.C2003T:p.T668M,RBL2:NM_005611:exon15:c.C2225T:p.T742M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.263521370022	.	.	1.687e-05	0	0	0	0	1.517e-05	0	6.836e-05	1.29e-05	2	154602	rs777931235	1.098e-05	1.3e-05	1.227e-05	9.669e-06	2.996e-05	6.5e-06	5.26e-06	5.33e-06	3.89e-06	2.996e-05	2.242e-05	3.85e-05	0	0	0	9.924e-06	1.663e-05	1.162e-05	1.314e-05	1.313e-05	0	2.691e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.027	0.46513	D	0.038	0.51421	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999091	0.81001	D	1.87	0.49600	L	-2.68	0.90391	D	-1.78	0.42001	N	0.768	0.76573	0.740	0.93664	D	0.832	0.94352	D	10	0.8188579	0.81103	D	0.263521	0.89602	D	0.524	0.79825	0.298	0.26362	0.786763095636	0.78479	0.5156825504440566	0.51491	0.805681720929	0.66455	0.750110864639	0.74463	T	0.16554	0.51143	T	0.0541398	0.58873	T	0.0215196	0.71729	D	0.646692216396332	0.38321	D	0.96937	0.88985	D	0.13153195	0.30655	0.18174174	0.41057	0.13153195	0.30655	0.18174174	0.41056	-6.786	0.52455	T	.	.	0.310	0.53800	B	.	.	5.194406	0.87129	29.1	0.99877463955750811	0.95410	0.94630	0.61795	D	AEFBHCI	0.653111	0.62626	D	0.791928824549312	0.85599	8.624086	0.804904082768944	0.90132	10.27036	0.999999774733222	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	5.591000	0.67229	7.697000	0.66086	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	20.644	0.99572	408	0.82256	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	855.43	40	chr16	53470165	.	C	T	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=427;ExcessHet=0;FS=7.115;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=1.98;SOR=1.591	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr16	55484131	55484131	G	A	exonic	MMP2	.	nonsynonymous SNV	MMP2:NM_001127891:exon3:c.G346A:p.E116K,MMP2:NM_001302508:exon3:c.G268A:p.E90K,MMP2:NM_001302509:exon3:c.G268A:p.E90K,MMP2:NM_001302510:exon3:c.G268A:p.E90K,MMP2:NM_004530:exon3:c.G496A:p.E166K	Multicentric osteolysis, nodulosis, and arthropathy, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	489951	not_provided|MMP2-related_disorder|Multicentric_osteolysis_nodulosis_arthropathy_spectrum|not_specified	MedGen:C3661900|.|MONDO:MONDO:0018298,MedGen:C1850155,Orphanet:3460,Orphanet:371428|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.453	0.0558126407867	0.0013	0.000599042	0.0017	0.0003	0.0006	0	0	0.0016	0.0033	0.0051	0.0014877	230	154602	rs147947052	0.0010	0.0010	0.0009	0.0012	0.0049	0.0010	0.0010	0.0045	0.0043	0.0002	0.0011	0.0130	2.519e-05	0	0.0043	0.0005	0.0016	0.0049	0.0009	0.0009	0.0008	0.0010	0.0043	0.0008	0.0008	0.0029	0.0024	0.0002	0	0.0010	0.0110	0	0	0	0.0008	0.0028	0.0043	0.168	0.30375	T	0.443	0.13953	T	0.162	0.28404	B	0.17	0.35299	B	0.000001	0.62929	D	0.095042	1	0.81001	D	1.01	0.25309	L	-1.32	0.79761	T	-2.34	0.51811	N	0.719	0.72835	-0.4262	0.71190	T	0.360	0.72208	T	10	0.0143533945	0.00302	T	0.055813	0.66374	D	0.453	0.75279	.	.	0.840786602947	0.83926	0.8069268744023543	0.80647	0.579389971153	0.53813	0.724605500698	0.70718	T	0.025161	0.51152	T	-0.131899	0.31190	T	0.0392641	0.72879	D	0.0337904100887073	0.02603	T	0.680832	0.28956	T	0.48948255	0.66472	0.3693945	0.62210	0.5022539	0.67228	0.30771774	0.56792	-5.576	0.42573	T	0.1788736545351898	0.22947	0.185	0.44669	B	.;.;.;.;.;.	.;.;.;.;.;.	4.880554	0.80035	27.2	0.99895855964029645	0.96895	0.99132	0.91696	D	AEFDBI	0.942555	0.94729	D	0.168326751600445	0.49681	3.165908	0.32476345890307	0.56998	3.864285	1.0	0.98316	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	10.003000	0.99689	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.053	0.89282	931	0.16308	.;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.004076	0.014620	0.000000	0.000000	0.000000	0.007576	0.05	2102.43	144	chr16	55484131	.	G	A	2102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.216;DP=464;ExcessHet=0;FS=8.228;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.441;SOR=0.303	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr16	56474875	56474875	G	A	exonic	OGFOD1	.	nonsynonymous SNV	OGFOD1:NM_001324363:exon10:c.G1219A:p.G407S,OGFOD1:NM_001324357:exon11:c.G1330A:p.G444S,OGFOD1:NM_001324358:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324359:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324360:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324361:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324362:exon11:c.G913A:p.G305S,OGFOD1:NM_018233:exon11:c.G1333A:p.G445S	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.030616256178	0.0003	0.000998403	0.0016	9.61e-05	8.643e-05	0.0001	0	0.0004	0	0.0100	0.001313	203	154602	rs201192199	0.0007	0.0007	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	2.988e-05	0.0001	0.0010	0	7.49e-05	0.0035	0.0001	0.0006	0.0083	0.0004	0.0004	0.0003	0.0006	0.0073	0.0003	0.0003	0.0054	0.0047	7.241e-05	0	6.551e-05	0.0009	0.0002	0	0.0034	0.0003	0.0005	0.0073	0.09	0.32769	T	0.083	0.44702	T	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.042575	1	0.81001	D	3.07	0.87108	M	0.59	0.54540	T	-4.16	0.76740	D	0.59	0.61172	-0.3131	0.74617	T	0.404	0.75444	T	9	0.010893464	0.00241	T	0.030616	0.52889	D	.	.	.	.	0.765059256141	0.76291	0.7638008280963696	0.76328	0.564018394391	0.52809	0.555544734001	0.46638	T	0.370981	0.73542	T	-0.0952216	0.37213	T	0.0971252	0.76718	D	0.152972972280557	0.17338	T	0.881212	0.60266	D	0.44717592	0.63863	0.24130172	0.49525	0.44717592	0.63863	0.24130172	0.49524	-11.038	0.79866	D	.	.	0.187	0.55103	B	.;.	.;.	4.979493	0.82472	27.8	0.99829313550550036	0.91112	0.97839	0.77515	D	AEFBI	0.763273	0.70042	D	0.752781194552767	0.83087	7.926074	0.722701537171452	0.84103	8.199556	0.999996665720699	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	7.139000	0.76905	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	0.07:0.0:0.93:0.0	13.7	0.62081	443	0.79878	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain;Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.018939	0.05	878.43	33	chr16	56474875	.	G	A	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.2;DP=428;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.467;SOR=0.84	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1084	9	0	1	0
chr16	56626498	56626498	T	A	exonic	MT1E	.	nonsynonymous SNV	MT1E:NM_001363555:exon2:c.T61A:p.C21S,MT1E:NM_175617:exon2:c.T61A:p.C21S	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	.	0.0002	0.00339457	0.0033	9.628e-05	0.0012	0.0001	0	0.0003	0.0011	0.0222	0.0028331	438	154602	rs138690474	0.0015	0.0015	0.0009	0.0021	0.0201	0.0014	0.0014	0.0193	0.0190	0.0001	0.0010	0.0007	2.519e-05	0	0.0045	0.0002	0.0016	0.0201	0.0006	0.0006	0.0003	0.0010	0.0137	0.0005	0.0005	0.0110	0.0101	4.811e-05	0	0.0008	0.0006	0.0004	0	0	0.0002	0	0.0137	0.027	0.91255	D	0.079	0.60972	T	0.975	0.77913	D	0.937	0.75477	D	0.000001	0.62929	U	0.000000	0.999999	0.81001	D	.	.	.	2.56	0.13673	T	-8.77	0.98823	D	0.76	0.75834	-1.0913	0.05319	T	0.081	0.31972	T	9	0.006744832	0.00153	T	.	.	.	0.227	0.52620	0.619	0.75347	0.102598925029	0.09809	0.5861247793983562	0.58542	0.440458745318	0.44055	0.398714601994	0.24889	T	0.341125	0.71006	T	-0.395493	0.02478	T	-0.323955	0.42138	T	0.134673288983119	0.15807	T	0.777622	0.81072	T	0.6333387	0.74476	0.5622324	0.74668	0.6333387	0.74477	0.5622324	0.74669	-11.293	0.81240	D	.	.	0.644	0.76860	P	.;.	.;.	3.615058	0.51130	23.0	0.99146362494053941	0.53682	0.84229	0.43312	D	AEFBHCI	0.905708	0.85757	D	0.210901993531115	0.51727	3.351682	0.0742076914678449	0.43257	2.631176	0.999999846499509	0.74766	0.542737	0.22433	0	0.609123	0.50646	0	0.503968	0.08637	0	0.638787	0.57140	0	.	.	2.43	2.43	0.28797	4.546000	0.60415	2.922000	0.35569	0.502000	0.22824	0.993000	0.37899	0.999000	0.35428	0.984000	0.60418	0.0:0.0:0.0:1.0	8.310	0.31226	854	0.34840	Metallothionein, vertebrate, metal binding site;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002114	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.007576	0.05	3435.43	37	chr16	56626498	.	T	A	3435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=649;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=0.913;QD=11.15;ReadPosRankSum=0.964;SOR=0.718	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1217	9	0	1	0
chr16	56682559	56682559	T	G	exonic	MT1X	.	nonsynonymous SNV	MT1X:NM_005952:exon1:c.T19G:p.C7G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.419	0.076850612576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.042	0.70582	D	0.997	0.70673	D	0.992	0.80445	D	.	.	.	.	0.999987	0.54805	D	.	.	.	1.37	0.34253	T	-8.85	0.97861	D	0.812	0.83781	-0.7629	0.57248	T	0.191	0.54374	T	8	0.9471299	0.94040	D	0.076851	0.72630	D	0.419	0.72855	0.718	0.85319	0.440182696023	0.43640	0.6373328117232706	0.63667	0.289516481914	0.31364	0.391585171223	0.23892	T	0.252914	0.67151	T	0.171834	0.71292	D	0.00905107	0.70921	D	0.970585763454437	0.69002	D	0.912209	0.68770	D	0.7126728	0.78754	0.6680104	0.80527	0.7126728	0.78756	0.6680104	0.80528	-10.997	0.79642	D	.	.	0.274	0.50736	B	.;.	.;.	4.453199	0.69239	25.3	0.97533697697855615	0.34475	0.85614	0.44765	D	AEFDGBHCI	0.833751	0.75191	D	0.373411060955149	0.59985	4.182805	0.286964690153079	0.54779	3.641809	0.999999999999959	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	3.44	3.44	0.38486	2.978000	0.48996	0.284000	0.16799	0.587000	0.30956	1.000000	0.71638	0.119000	0.22882	0.227000	0.22653	0.0:0.0:0.0:1.0	8.482	0.32212	883	0.28872	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1864.43	180	chr16	56682559	.	T	G	1864.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.684;DP=501;ExcessHet=0;FS=1.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=-1.899;SOR=0.588	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1048	9	0	1	0
chr16	56888022	56888022	G	C	exonic	SLC12A3	.	nonsynonymous SNV	SLC12A3:NM_000339:exon18:c.G2276C:p.G759A,SLC12A3:NM_001126107:exon18:c.G2273C:p.G758A,SLC12A3:NM_001126108:exon18:c.G2276C:p.G759A	Gitelman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.0318849644138	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs202152707	2.746e-06	2.736e-06	2.733e-06	2.759e-06	0.0005	6.4e-07	4.3e-07	0.0001	7.562e-05	0	0	0	0	0	0.0005	9.025e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.42783	D	0.213	0.26467	T	0.023	0.23051	B	0.023	0.27651	B	0.017244	0.27771	N	0.389167	0.999997	0.58761	D	1.815	0.47718	L	-2.85	0.91363	D	-3.41	0.67129	D	0.567	0.59053	-0.7392	0.58493	T	0.218	0.58007	T	9	0.4858545	0.60703	T	0.031885	0.53858	D	0.094	0.27141	0.549	0.66436	0.912159565237	0.91128	0.5958286627722365	0.59512	0.0952218268769	0.10748	0.549659192562	0.45809	T	0.658512	0.89723	D	0.0908672	0.63286	D	-0.107252	0.62830	T	0.683103203773499	0.39930	D	0.90121	0.65680	D	0.44606522	0.63791	0.4305308	0.66700	0.44606522	0.63792	0.4305308	0.66700	-8.856	0.66985	D	0.2276149278488865	0.30774	0.165	0.38245	B	.;.;.;.	.;.;.;.	2.727321	0.35692	19.96	0.98986737300184324	0.49861	0.96792	0.70964	D	AEFDGBI	0.510573	0.53957	D	-0.107369899313568	0.37070	2.151577	0.00304231934940324	0.39857	2.369575	0.986635073207277	0.31098	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.7	3.74	0.42108	3.519000	0.53214	5.671000	0.49256	0.596000	0.33519	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0819:0.0:0.9181:0.0	12.668	0.56215	561	0.71236	.;.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1138.43	37	chr16	56888022	.	G	C	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.473;DP=454;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.46;SOR=0.91	GT:AD:DP:GQ:PL	0/1:66,53:119:99:1150,0,1575	9	0	1	0
chr16	56983616	56983616	T	C	exonic	CETP	.	nonsynonymous SNV	CETP:NM_001286085:exon15:c.T1252C:p.F418L,CETP:NM_000078:exon16:c.T1432C:p.F478L	Hyperalphalipoproteinemia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3135097	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.250	0.227938323683	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs770051789	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.91255	D	0.012	0.64786	D	0.79	0.51611	P	0.642	0.52168	P	0.000001	0.62929	U	0.000000	0.925261	0.37396	D	2.485	0.72352	M	3.1	0.08283	T	-1.15	0.40082	N	0.415	0.51940	-1.0278	0.21168	T	0.019	0.08173	T	10	0.6979034	0.72259	D	0.227938	0.88114	D	0.250	0.55888	0.776	0.90157	0.458554320643	0.45480	0.7544315395468443	0.75390	0.650144167134	0.58303	0.518054306507	0.41352	T	0.153788	0.49480	T	-0.0774207	0.40132	T	-0.348986	0.39322	T	0.869916379451752	0.51984	D	0.768523	0.39806	T	0.6924481	0.77644	0.26878384	0.52752	0.6924481	0.77646	0.26878384	0.52751	-4.025	0.28775	T	.	.	0.949	0.86772	P	.;.;.	.;.;.	3.050575	0.40926	21.3	0.99548891490410818	0.71023	0.77493	0.38108	D	AEFDGBHCI	0.515133	0.54222	D	-0.147478556115635	0.35342	2.028783	-0.175409578441201	0.32444	1.845839	0.999999928117312	0.74766	0.729952	0.87565	0	0.585951	0.33947	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	3.13	3.13	0.35090	2.973000	0.48956	3.173000	0.36621	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.221000	0.22489	0.0:0.0:0.0:1.0	7.966	0.29257	856	0.34373	Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	849.43	34	chr16	56983616	.	T	C	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.313;DP=434;ExcessHet=0;FS=4.151;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-2.164;SOR=0.989	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S,NLRC5:NM_001384959:exon29:c.G3859A:p.G1287S,NLRC5:NM_001384960:exon29:c.G3859A:p.G1287S,NLRC5:NM_001330552:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384951:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384954:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384956:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384965:exon30:c.G3952A:p.G1318S,NLRC5:NM_001384966:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384967:exon30:c.G3946A:p.G1316S,NLRC5:NM_001384968:exon30:c.G3943A:p.G1315S,NLRC5:NM_001384971:exon30:c.G3949A:p.G1317S,NLRC5:NM_001384972:exon30:c.G3709A:p.G1237S,NLRC5:NM_001384950:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384952:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384953:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384955:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384957:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384961:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384962:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384963:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384964:exon31:c.G4033A:p.G1345S,NLRC5:NM_001384969:exon31:c.G4036A:p.G1346S,NLRC5:NM_001384970:exon31:c.G4033A:p.G1345S,NLRC5:NM_032206:exon31:c.G4036A:p.G1346S	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	824	0.40336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003033	0.000000	0.004076	0.002924	0.000000	0.000000	0.003086	0.003788	0.1	2024.12	34	chr16	57061497	.	G	A	2024.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.18;SOR=1.609	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	9	1	0	0
chr16	57474836	57474836	G	A	exonic	DOK4	.	nonsynonymous SNV	DOK4:NM_001330556:exon5:c.C556T:p.R186C,DOK4:NM_001369621:exon5:c.C556T:p.R186C,DOK4:NM_001369618:exon6:c.C556T:p.R186C,DOK4:NM_001369619:exon6:c.C556T:p.R186C,DOK4:NM_001369620:exon6:c.C556T:p.R186C,DOK4:NM_018110:exon6:c.C556T:p.R186C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	0.363294402673	.	.	2.505e-05	0	0	0	0	4.537e-05	0	0	1.94e-05	3	154602	rs745316420	1.368e-05	1.368e-05	1.497e-05	1.238e-05	2.319e-05	8.94e-06	7.26e-06	9.31e-06	7.61e-06	0	0	3.827e-05	0	0	0	1.529e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	-1.47	0.81067	T	-6.92	0.93366	D	0.949	0.96531	0.550	0.91233	D	0.700	0.89664	D	10	0.9841845	0.98598	D	0.363294	0.92565	D	0.925	0.98154	0.913	0.98308	0.999008699515	0.99899	0.7765300562604596	0.77603	1.17521237429	0.79859	0.88338381052	0.94411	D	0.919964	0.98560	D	0.360475	0.87291	D	0.376875	0.91318	D	0.991479873657227	0.81774	D	0.996925	0.98818	D	0.72654456	0.79528	0.4979548	0.70970	0.72654456	0.79530	0.4979548	0.70971	-9.473	0.70691	D	.	.	0.996	0.96282	P	.;.;.;.	.;.;.;.	6.016825	0.94351	34	0.99930352813849377	0.99334	0.97325	0.74040	D	AEFDGBHI	0.913072	0.87457	D	0.84200198301735	0.88648	9.657954	0.773737000153376	0.87915	9.390059	0.999999995965363	0.74766	0.706548	0.73137	0	0.611049	0.52481	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	6.405000	0.73193	11.775000	0.95959	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.8332:0.1668	12.509	0.55341	624	0.65661	IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain;IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain;IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain;IRS-type PTB domain|IRS-type PTB domain|IRS-type PTB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1186.43	74	chr16	57474836	.	G	A	1186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=434;ExcessHet=0;FS=1.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=0.99;SOR=0.493	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1072	9	0	1	0
chr16	57528870	57528870	T	C	exonic	CCDC102A	.	nonsynonymous SNV	CCDC102A:NM_033212:exon2:c.A308G:p.N103S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.836103310374	.	.	1.16e-05	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs781748241	3.285e-06	1.642e-05	0	6.656e-06	7.947e-05	7.7e-07	5.2e-07	1.315e-05	4.92e-06	0	0	0	7.947e-05	0	0	2.03e-06	0	0	1.359e-05	1.32e-05	1.324e-05	1.395e-05	0.0002	2.26e-06	8.5e-07	.	.	0	0	0	0	0	0	0	1.511e-05	0	0.0002	0.007	0.59928	D	0.038	0.51421	D	0.999	0.77913	D	0.994	0.82059	D	0.000087	0.51296	D	0.124525	0.98588	0.40348	D	2.38	0.68558	M	0.74	0.50459	T	-4.07	0.74661	D	0.21	0.23380	-0.8112	0.54478	T	0.195	0.54884	T	10	0.44682914	0.58449	T	0.836103	0.98731	D	0.162	0.41843	0.219	0.14078	0.69135241514	0.68870	0.6733818407923545	0.67276	2.16590570783	0.95413	0.881299376488	0.94135	D	0.243094	0.61196	T	-0.173902	0.24645	T	-0.487574	0.23645	T	0.955727100372314	0.64579	D	0.913309	0.69109	D	0.314218	0.54148	0.19807044	0.43621	0.314218	0.54148	0.19807044	0.43620	-5.663	0.43363	T	.	.	0.194	0.41480	B	.	.	5.358615	0.89866	31	0.99767940966888569	0.85666	0.93193	0.57568	D	AEFDBCI	0.475257	0.51917	N	0.502484925023641	0.67237	5.054874	0.466356727517421	0.65774	4.866451	0.999999900922469	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.52208	0.10781	0	0.699875	0.68795	0	.	.	4.82	3.7	0.41607	3.120000	0.50123	5.803000	0.49951	0.550000	0.28109	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.088:0.1618:0.7501	6.037	0.18940	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	617.43	64	chr16	57528870	.	T	C	617.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.45;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.007;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1044:.	9	0	1	0
chr16	57574833	57574833	C	T	exonic	ADGRG5	.	nonsynonymous SNV	ADGRG5:NM_001318481:exon10:c.C1109T:p.P370L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	7.7e-05	0.000199681	5.296e-05	0	0	0	0	7.784e-05	0	8.61e-05	5.82e-05	9	154602	rs145913178	5.076e-05	5.13e-05	4.819e-05	5.337e-05	0.0002	4.125e-05	3.795e-05	4.321e-05	3.887e-05	3.024e-05	4.602e-05	0	2.549e-05	0	0.0002	5.467e-05	0.0001	2.367e-05	5.908e-05	5.905e-05	8.992e-05	2.685e-05	0.0004	3.075e-05	2.208e-05	6.837e-05	2.861e-05	0	0	6.534e-05	0	0.0004	0	0	5.881e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1582.43	34	chr16	57574833	.	C	T	1582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.306;DP=447;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.413;SOR=0.656	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	9	0	1	0
chr16	57698153	57698153	G	A	splicing	DRC7	NM_001289163:exon2:c.203+1G>A;NM_032269:exon2:c.203+1G>A;NM_001289162:exon3:c.203+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.653e-05	0	8.652e-05	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs528191373	6.842e-06	6.84e-06	5.446e-06	8.252e-06	6.709e-05	3.46e-06	2.52e-06	1.779e-05	8.93e-06	0	6.709e-05	0	5.038e-05	0	0	3.597e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0168999	0.53963	T	-0.0165294	0.69257	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.908135	0.80724	27.4	0.98836729291971293	0.47052	0.88170	0.47980	D	AEFBI	.	.	.	0.872273869049551	0.90339	10.35862	0.639364321196652	0.77821	6.753767	0.999881180697062	0.44867	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.062806	0.01542	0	0.945785	0.60994	4.18	4.18	0.48473	4.452000	0.59794	11.456000	0.92812	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.053000	0.15439	0.0:0.0:1.0:0.0	12.325	0.54328	895	0.25842	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1459.43	34	chr16	57698153	.	G	A	1459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.024;DP=444;ExcessHet=0;FS=4.187;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.868;SOR=0.431	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1018	9	0	1	0
chr16	57771356	57771356	G	C	exonic	KIFC3	.	nonsynonymous SNV	KIFC3:NM_001318712:exon4:c.C301G:p.L101V,KIFC3:NM_001318713:exon4:c.C190G:p.L64V,KIFC3:NM_001130099:exon5:c.C190G:p.L64V,KIFC3:NM_001130100:exon6:c.C607G:p.L203V,KIFC3:NM_001318710:exon6:c.C673G:p.L225V,KIFC3:NM_001318711:exon6:c.C433G:p.L145V,KIFC3:NM_001318715:exon6:c.C190G:p.L64V,KIFC3:NM_005550:exon6:c.C607G:p.L203V,KIFC3:NM_001318714:exon7:c.C190G:p.L64V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0176634608374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.91255	T	0.293	0.92824	T	0.873	0.47975	P	0.23	0.39216	B	0.041718	0.23920	N	0.359785	0.98161	0.25027	N	2.015	0.55033	M	-0.76	0.74371	T	-0.42	0.56466	N	0.165	0.17691	-0.8366	0.52871	T	0.234	0.60014	T	10	0.17906025	0.33021	T	0.017663	0.39446	T	0.164	0.42212	0.087	0.00904	0.790080094647	0.78813	0.13158560820035356	0.13083	0.547987055301	0.51764	0.491642951965	0.37666	T	0.029959	0.25569	T	-0.0162197	0.49391	T	-0.261075	0.48718	T	0.191470520648698	0.19931	T	0.826617	0.51841	T	0.061735123	0.12818	0.06564899	0.13335	0.061735123	0.12817	0.06564899	0.13335	-5.127	0.41197	T	.	.	0.075	0.20430	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.771572	0.36384	20.2	0.98902240270608033	0.48217	0.84864	0.43957	D	AEFDGBCI	0.549943	0.56262	D	0.0928942857126204	0.46132	2.858357	0.167957563813894	0.48101	3.030693	0.999995479296454	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.717052	0.78885	0	0.714379	0.83352	0	.	.	5.35	4.4	0.52402	1.233000	0.32250	5.646000	0.49166	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0819:0.0:0.7596:0.1586	7.923	0.29019	823	0.40596	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1862.43	38	chr16	57771356	.	G	C	1862.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.515;DP=500;ExcessHet=0;FS=2.082;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.65;SOR=0.825	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1196.74	37	chr16	57813723	.	T	*	1196.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.254;DP=514;ExcessHet=0.7463;FS=3.452;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.73;ReadPosRankSum=0.44;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1018:.	8	0	2	0
chr16	57987415	57987415	C	T	exonic	TEPP	.	nonsynonymous SNV	TEPP:NM_199046:exon8:c.C721T:p.P241S,TEPP:NM_199456:exon8:c.C640T:p.P214S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.107696716452	.	.	1.939e-05	0	0	0	0	3.546e-05	0	0	6.5e-06	1	154602	rs755528485	4.151e-06	4.788e-06	4.123e-06	4.179e-06	2.323e-05	1.49e-06	9.8e-07	8.5e-07	5.7e-07	0	2.323e-05	0	0	0	0	3.62e-06	1.673e-05	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.015	0.52492	D	0.018	0.59732	D	1.0	0.90584	D	0.998	0.88582	D	0.000013	0.62929	D	0.000000	0.717723	0.33584	D	2.665	0.77964	M	0.16	0.60610	T	-3.23	0.65056	D	0.171	0.18376	-0.0177	0.81886	T	0.377	0.73468	T	10	0.34204376	0.51243	T	0.107697	0.78389	D	0.215	0.50805	0.297	0.26202	0.749393882446	0.74713	0.3525120005614175	0.35165	0.83318183298	0.67713	0.473964631557	0.35226	T	0.189362	0.54356	T	0.00210693	0.51945	T	-0.23475	0.51309	T	0.919497728347778	0.57823	D	0.651035	0.31322	T	0.2011726	0.42119	0.25051942	0.50645	0.2011726	0.42118	0.25051942	0.50644	-3.445	0.15670	T	.	.	0.321	0.63528	B	.;.	.;.	4.379887	0.67501	25.1	0.99911311629750965	0.98095	0.64760	0.32512	D	AEFBI	0.168940	0.29573	N	0.550148104459464	0.70091	5.450873	0.460497169490532	0.65393	4.818204	0.99999448825184	0.74766	0.623552	0.39893	0	0.547309	0.14657	0	0.577349	0.28860	0	0.579976	0.35079	0	.	.	4.59	4.59	0.56297	1.528000	0.35592	7.248000	0.57921	0.589000	0.31548	0.173000	0.23973	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	13.095	0.58598	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1897.43	34	chr16	57987415	.	C	T	1897.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.974;DP=469;ExcessHet=0;FS=2.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=2.57;SOR=0.529	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1327	9	0	1	0
chr16	58258516	58258516	G	A	exonic	CCDC113	.	nonsynonymous SNV	CCDC113:NM_001142302:exon3:c.G377A:p.R126H,CCDC113:NM_014157:exon4:c.G539A:p.R180H	.	429	1092	1	0	0	1	0.000457666	.	.	.	2761267	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.039	0.0116404497086	.	.	8.253e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs773212288	8.213e-06	8.209e-06	5.448e-06	1.101e-05	0.0003	4.38e-06	3.46e-06	6.096e-05	2.522e-05	5.983e-05	0	0	0	0	0.0003	4.498e-06	0	3.48e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.828e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	1.47e-05	0	0	0.206	0.19927	T	0.046	0.70582	D	0.162	0.28404	B	0.037	0.23121	B	0.020112	0.27110	N	0.352176	0.871823	0.35578	D	1.385	0.34509	L	1.33	0.35590	T	-3.37	0.70553	D	0.284	0.36884	-1.0282	0.21038	T	0.073	0.29707	T	10	0.20931819	0.37290	T	0.01164	0.29466	T	0.039	0.10176	0.404	0.43573	0.491592572028	0.48794	0.1862138284156097	0.18539	0.0953066022556	0.10761	0.295220166445	0.09691	T	0.21319	0.57443	T	-0.274086	0.11305	T	-0.530852	0.19202	T	0.280358403921127	0.24187	T	0.771723	0.41194	T	0.095378466	0.22446	0.095523015	0.22659	0.095378466	0.22446	0.095523015	0.22658	-4.523	0.31665	T	.	.	0.093	0.13923	B	.;.;.	.;.;.	2.412272	0.31007	18.61	0.98526957508584534	0.42545	0.56520	0.30138	D	AEFDIJ	0.120571	0.23481	N	-0.269563119008492	0.30330	1.690144	-0.20214169331255	0.31459	1.78059	0.974855442548672	0.29580	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.18	1.98	0.25351	0.682000	0.25015	1.668000	0.27939	0.662000	0.56354	0.769000	0.29345	0.945000	0.28875	0.501000	0.29039	0.1516:0.0:0.7072:0.1411	6.939	0.23662	778	0.48011	.;Domain of unknown function DUF4201;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1003.43	33	chr16	58258516	.	G	A	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.073;DP=423;ExcessHet=0;FS=2.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.287;SOR=0.562	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1015,0,1280	9	0	1	0
chr16	58532364	58532364	T	G	exonic	CNOT1	.	nonsynonymous SNV	CNOT1:NM_001265612:exon41:c.A5912C:p.Q1971P,CNOT1:NM_016284:exon41:c.A5927C:p.Q1976P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.0628294125046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.53172	D	0.074	0.92824	T	0.965	0.66517	D	0.658	0.63802	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	0.83	0.47815	T	-4.25	0.81350	D	0.821	0.81658	-0.5537	0.66646	T	0.281	0.65329	T	10	0.77904785	0.77700	D	0.062829	0.68777	D	0.561	0.82003	0.463	0.53242	0.701341541439	0.69875	0.9228311164676151	0.92260	2.39238286163	0.97114	0.854554057121	0.90299	D	0.332638	0.70258	T	0.283873	0.81645	D	0.169988	0.81408	D	0.986560583114624	0.77251	D	0.888711	0.75239	D	0.83845794	0.86498	0.6563706	0.79879	0.83845794	0.86500	0.6563706	0.79880	-10.235	0.75306	D	.	.	0.983	0.91705	P	.;.;.	.;.;.	4.822036	0.78552	26.9	0.99494236601063046	0.67630	0.99061	0.90654	D	AEFBI	0.966500	0.98893	D	0.737209858179473	0.82072	7.672631	0.749373155473654	0.86109	8.785687	0.999999999933101	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.85	5.85	0.93663	8.017000	0.88732	7.932000	0.75071	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.235	0.82193	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	53.49	33	chr16	58532364	.	T	G	53.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.051;DP=439;ExcessHet=0;FS=78.099;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=3.13;SOR=6.517	GT:AD:DP:GQ:PL	0/1:49,19:68:65:65,0,877	9	0	1	0
chr16	58680098	58680098	T	C	exonic	SLC38A7	.	nonsynonymous SNV	SLC38A7:NM_001308384:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369609:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369611:exon2:c.A29G:p.Y10C,SLC38A7:NM_001369608:exon3:c.A29G:p.Y10C,SLC38A7:NM_001369610:exon3:c.A29G:p.Y10C,SLC38A7:NM_018231:exon3:c.A29G:p.Y10C	.	430	1087	5	0	0	5	0.00229463	.	.	.	726722	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0002	0.00638978	0.0050	9.98e-05	0.0107	0.0115	0.0288	0.0020	0.0091	0.0007	0.003978	615	154602	rs151075190	0.0019	0.0020	0.0019	0.0019	0.0106	0.0019	0.0018	0.0097	0.0094	0	0.0106	0	0.0091	0.0287	0	0.0003	0.0020	0.0007	0.0033	0.0033	0.0023	0.0044	0.0133	0.0031	0.0030	0.0108	0.0099	2.405e-05	0	0.0050	0	0.0133	0.0268	0	0.0010	0.0019	0.0015	0.083	0.56456	T	0.169	0.34959	T	0.187	0.29285	B	0.042	0.24114	B	0.775231	0.06621	N	1.099490	1	0.08975	N	1.935	0.51832	L	2.94	0.35405	T	0.04	0.31375	N	0.236	0.36254	-0.9644	0.38330	T	0.012	0.04558	T	9	0.0024581552	0.00037	T	.	.	.	0.041	0.10877	.	.	0.280181792013	0.27631	0.4050142347051937	0.40417	0.455770394439	0.45246	0.339849948883	0.16416	T	0.007995	0.07364	T	-0.48182	0.00722	T	-0.455482	0.27092	T	0.0178480891042658	0.00513	T	0.816718	0.47377	T	0.058463123	0.11763	0.038082734	0.03600	0.058463123	0.11763	0.038082734	0.03600	-3.508	0.16543	T	.	.	0.072	0.11027	B	.;.;.;.;.;.	.;.;.;.;.;.	1.752248	0.22289	15.56	0.98803772818468916	0.46493	0.66587	0.33130	D	AEFDGBI	.	.	.	-0.572137166162692	0.19794	1.038792	-0.580259844611699	0.20008	1.076068	0.674971956206263	0.22416	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.81	2.28	0.27583	1.341000	0.33512	1.920000	0.29703	0.660000	0.55035	0.906000	0.31575	0.960000	0.29291	0.474000	0.28430	0.1381:0.0:0.1314:0.7305	7.751	0.28062	509	0.75304	.;.;.;.;.;.	.	.	.	.	rs151075190	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	793.43	37	chr16	58680098	.	T	C	793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=-0.821;SOR=0.693	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr16	64948685	64948685	C	A	exonic	CDH11	.	nonsynonymous SNV	CDH11:NM_001308392:exon13:c.G1997T:p.R666I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.0094654037705	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs768409959	6.871e-07	2.053e-06	1.366e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.33	0.58323	T	-2.16	0.48850	N	0.228	0.25622	-0.9753	0.36059	T	0.129	0.43787	T	8	0.12868133	0.24479	T	0.009465	0.24786	T	0.164	0.42212	0.575	0.69957	0.411411441165	0.40760	.	.	.	.	.	.	.	.	.	.	-0.259695	0.12936	T	-0.610811	0.11918	T	0.0964033924645899	0.11956	T	0.40416	0.10358	T	.	.	.	.	.	.	.	.	-3.039	0.10607	T	.	.	0.151	0.33458	B	.	.	0.026679	0.04469	1.187	0.89913335390322258	0.19213	0.01119	0.04084	N	AEFBI	0.040207	0.05947	N	-1.62783212799626	0.01132	0.0491679	-1.79670344964322	0.00770	0.03432799	0.999999891180091	0.74766	0.600919	0.35232	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620204	0.46100	0	.	.	3.64	-7.27	0.01312	-0.098000	0.10993	-2.611000	0.03550	-1.148000	0.01430	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2722:0.6147:0.1131:0.0	11.798	0.51384	543	0.72751	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1211.43	33	chr16	64948685	.	C	A	1211.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.434;DP=433;ExcessHet=0;FS=1.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-0.766;SOR=0.549	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,111,1665	9	0	1	0
chr16	66549982	66549982	G	A	exonic	TK2	.	nonsynonymous SNV	TK2:NM_001172644:exon1:c.C80T:p.S27L,TK2:NM_001172645:exon1:c.C80T:p.S27L,TK2:NM_004614:exon1:c.C80T:p.S27L	Mitochondrial DNA depletion syndrome 2 (myopathic type), Autosomal recessive	14	1502	6	0	0	6	0.00199336	.	.	.	1188389	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.311	0.566043445151	.	0.000798722	0.0010	0	0	0	0	0.0007	0	0.0013	0.0001294	20	154602	rs191573607	0.0003	0.0003	0.0002	0.0003	0.0027	0.0002	0.0002	0.0015	0.0012	0.0001	0.0012	0	0	0	0.0027	0.0002	0.0004	0.0010	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0008	0.0007	7.215e-05	0	0.0012	0	0	0	0.0034	0.0004	0	0.0012	0.084	0.32929	T	0.165	0.33219	T	0.967	0.56408	D	0.879	0.62418	P	0.023304	0.01590	N	3.064230	1	0.19486	N	1.935	0.51832	L	-5.07	0.98648	D	-1.34	0.33401	N	0.11	0.20660	0.657	0.92635	D	0.879	0.95999	D	10	0.028015554	0.00938	T	0.566043	0.96057	D	0.311	0.63269	.	.	0.913854725395	0.91299	0.30178548622754714	0.30091	0.314377265389	0.33721	0.726078927517	0.70934	T	0.201278	0.55911	T	-0.150958	0.28163	T	-0.019696	0.69048	D	0.0696706625261224	0.08605	T	0.767723	0.39623	T	0.08148918	0.18726	0.09696795	0.23061	0.08148918	0.18726	0.09696795	0.23060	-2.793	0.09946	T	.	.	0.102	0.30022	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.736398	0.22098	15.48	0.9968671887541859	0.79641	0.06241	0.12231	N	ALL	0.074689	0.14978	N	-0.714856336112954	0.15603	0.7878187	-0.897867471572601	0.12145	0.6230019	0.999999999821988	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.239995	0.05000	1	0.372554	0.06265	0	.	.	3.08	-0.0795	0.13044	0.075000	0.14547	0.021000	0.13590	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.2606:0.2211:0.5183:0.0	3.326	0.06651	298	0.88068	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004844	0.000000	0.001497	0.000000	0.000000	0.018182	0.009740	0.004000	0.05	643.43	33	chr16	66549982	.	G	A	643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.65;DP=310;ExcessHet=0;FS=1.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.26;SOR=0.442	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	9	0	1	0
chr16	66588066	66588066	G	A	exonic	CMTM2	.	nonsynonymous SNV	CMTM2:NM_001199317:exon3:c.G535A:p.A179T,CMTM2:NM_144673:exon4:c.G694A:p.A232T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00351899472758	.	.	1.651e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs761636615	4.791e-05	4.788e-05	5.176e-05	4.403e-05	5.755e-05	3.862e-05	3.542e-05	4.612e-05	4.197e-05	2.989e-05	4.472e-05	0	0	0	0	5.755e-05	1.658e-05	2.32e-05	4.6e-05	4.597e-05	6.424e-05	2.69e-05	0.0001	2.109e-05	1.527e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.039	0.42487	D	0.12	0.36630	T	0.65	0.40644	P	0.045	0.24526	B	0.001773	0.00824	N	3.914630	1	0.08975	N	1.355	0.33814	L	0.8	0.48769	T	-0.81	0.22294	N	0.1	0.08227	-0.9569	0.39753	T	0.080	0.31586	T	10	0.06796786	0.09546	T	0.003519	0.08000	T	0.033	0.08068	.	.	0.294918367191	0.29099	0.12144525188915871	0.12071	0.194864376624	0.21820	0.226779535413	0.01738	T	0.003	0.02196	T	-0.413765	0.01877	T	-0.646217	0.09221	T	0.0726382806897163	0.09017	T	0.412859	0.10744	T	0.03158974	0.03026	0.041031305	0.04570	0.03158974	0.03025	0.041031305	0.04570	-6.04	0.46613	T	.	.	0.097	0.15788	B	.;.	.;.	0.770843	0.11407	8.019	0.81541780543511744	0.13737	0.00956	0.03673	N	AEFDBI	0.030787	0.03167	N	-0.926504365036797	0.10225	0.4876235	-1.072699172647	0.08240	0.404313	0.999523147063297	0.40175	0.554377	0.28877	0	0.491513	0.07743	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.31	0.055	0.13628	0.542000	0.22930	-0.348000	0.09765	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.4621:0.0:0.5379:0.0	5.370	0.15436	281	0.88893	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	326.43	33	chr16	66588066	.	G	A	326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.041;DP=305;ExcessHet=0;FS=1.367;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.292;SOR=0.473	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	9	0	1	0
chr16	66623424	66623424	C	T	exonic	CMTM4	.	nonsynonymous SNV	CMTM4:NM_178818:exon3:c.G442A:p.G148R,CMTM4:NM_181521:exon3:c.G442A:p.G148R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0238289466511	.	0.000199681	2.479e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs138530024	3.422e-06	3.42e-06	4.086e-06	2.751e-06	2.992e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	2.992e-05	2.242e-05	0	0	0	0	8.995e-07	0	2.322e-05	3.94e-05	4.593e-05	2.57e-05	5.373e-05	0.0001	1.715e-05	1.129e-05	6.271e-05	4.292e-05	0.0001	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.126	0.59732	T	0.545	0.37995	P	0.109	0.31370	B	0.000161	0.49130	D	0.213646	1	0.81001	D	2.3	0.65703	M	1.76	0.25996	T	-3.03	0.63323	D	0.805	0.80083	-1.0446	0.15942	T	0.074	0.30023	T	10	0.35442263	0.52226	T	0.023829	0.46806	T	0.180	0.45073	0.773	0.89924	0.286465849087	0.28247	0.8845143836113893	0.88419	1.51474417535	0.87295	0.516914606094	0.41192	T	0.054261	0.31620	T	-0.281676	0.10491	T	-0.346192	0.39641	T	0.708979070186615	0.41150	D	0.915108	0.69728	D	0.32690355	0.55216	0.27131632	0.53031	0.32690355	0.55216	0.27131632	0.53030	-7.302	0.59609	T	.	.	0.650	0.70925	P	.;.;.;.	.;.;.;.	5.048550	0.84074	28.2	0.99928412143344036	0.99222	0.96299	0.68462	D	AEFBI	0.685342	0.64738	D	0.285851662270099	0.55430	3.707164	0.366031377503188	0.59480	4.126131	0.999998195036031	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.88	4.91	0.63897	6.282000	0.72666	7.611000	0.61914	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:0.8693:0.1307:0.0	16.572	0.84464	268	0.89479	Marvel domain|Marvel domain;Marvel domain|Marvel domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	668.43	33	chr16	66623424	.	C	T	668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.68;DP=357;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=1.54;SOR=0.504	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,954	9	0	1	0
chr16	66734304	66734304	G	A	exonic	DYNC1LI2	.	nonsynonymous SNV	DYNC1LI2:NM_001286157:exon5:c.C476T:p.A159V,DYNC1LI2:NM_001323955:exon5:c.C590T:p.A197V,DYNC1LI2:NM_006141:exon6:c.C707T:p.A236V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.014322145159	0.0004	0.00119808	0.0003	0.0024	0.0003	0	0	7.644e-05	0	6.285e-05	0.0002587	40	154602	rs138998809	5.815e-05	5.883e-05	6.943e-05	4.676e-05	0.0012	4.81e-05	4.432e-05	0.0009	0.0008	0.0012	0.0002	0	0	1.873e-05	0	1.529e-05	0.0003	2.32e-05	0.0006	0.0006	0.0005	0.0007	0.0022	0.0005	0.0005	0.0018	0.0017	0.0022	0	0.0004	0	0	0	0	1.47e-05	0	0	0.493	0.08891	T	0.497	0.11299	T	0.995	0.67487	D	0.914	0.64984	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	1.61	0.28391	T	-1.58	0.38151	N	0.84	0.83678	-0.9527	0.40503	T	0.172	0.51421	T	10	0.05246198	0.05283	T	0.014322	0.34357	T	0.226	0.52472	.	.	0.68767428264	0.68500	0.5791528764675137	0.57844	0.879070115435	0.69703	0.749772906303	0.74413	T	0.050349	0.28569	T	-0.210536	0.19303	T	-0.0824604	0.64724	T	0.0671864763053135	0.08250	T	0.905309	0.67067	D	0.41397437	0.61688	0.17208134	0.39436	0.41397437	0.61689	0.17208134	0.39435	-7.958	0.60783	D	.	.	0.164	0.47393	B	.;.;.	.;.;.	5.247094	0.88089	29.5	0.99872766849610162	0.94989	0.98170	0.80208	D	AEFDBCI	0.902913	0.85137	D	0.677414358852762	0.78153	6.814403	0.666154589189166	0.79821	7.16356	0.999999999997675	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.99	4.99	0.65942	10.003000	0.99689	11.901000	0.99356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:1.0:0.0	18.88	0.92323	154	0.93967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	799.43	42	chr16	66734304	.	G	A	799.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=407;ExcessHet=0;FS=1.753;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.78;ReadPosRankSum=-0.93;SOR=0.476	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1024	9	0	1	0
chr16	66755044	66755044	G	A	exonic	TERB1	.	nonsynonymous SNV	TERB1:NM_001136505:exon19:c.C2116T:p.R706W	.	431	1070	21	0	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0990114348706	.	0.00139776	0.0020	0	0.0024	0	0	0.0016	0	0.0030	0.0003687	57	154602	rs200191895	0.0009	0.0008	0.0008	0.0010	0.0035	0.0008	0.0008	0.0031	0.0030	0.0001	0.0011	0.0025	0	0.0001	0.0033	0.0007	0.0013	0.0035	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0016	0.0013	0.0002	0	0.0015	0.0017	0.0004	0.0002	0	0.0009	0.0028	0.0027	.	.	.	0.0	0.92824	D	0.804	0.45171	P	0.244	0.38795	B	.	.	.	.	0.945505	0.81001	D	2.65	0.77586	M	-0.01	0.62762	T	.	.	.	0.915	0.91736	-0.7112	0.59893	T	0.196	0.55100	T	9	0.063039124	0.08152	T	0.099011	0.77036	D	0.340	0.66202	.	.	0.632468194898	0.62945	0.8632737748027692	0.86291	.	.	0.436707556248	0.30127	T	0.046743	0.27515	T	-0.144685	0.29145	T	0.0169721	0.71435	D	0.0380087372379942	0.03334	T	0.906209	0.66975	D	0.12773815	0.29883	0.19236793	0.42747	0.12773815	0.29883	0.19236793	0.42746	-13.416	0.91004	D	.	.	0.558	0.67132	A	.;.	.;.	3.666294	0.52110	23.2	0.9401128398898142	0.24113	0.41925	0.26765	N	AEFDBHCI	0.372404	0.45806	N	0.109644642783173	0.46912	2.924414	0.10288310517962	0.44696	2.746361	0.999644148923686	0.41316	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.76	0.895	0.18380	0.258000	0.18156	2.010000	0.30161	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.929000	0.46594	0.084:0.0:0.2612:0.6547	8.173	0.30425	67	0.97183	SANT/Myb domain|SANT/Myb domain;SANT/Myb domain|SANT/Myb domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003030	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.000000	0.05	274.43	33	chr16	66755044	.	G	A	274.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.191;DP=317;ExcessHet=0;FS=1.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.86;ReadPosRankSum=-1.551;SOR=0.645	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,671	9	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G,NAE1:NM_001286500:exon6:c.A356G:p.D119G,NAE1:NM_003905:exon6:c.A347G:p.D116G,NAE1:NM_001018159:exon7:c.A329G:p.D110G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	71.05	71	chr16	66823281	.	T	C	71.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.852;DP=619;ExcessHet=0;FS=277.236;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=1.23;SOR=8.379	GT:AD:DP:GQ:PL	0/0:62,13:75:41:0,41,1081	8	0	1	1
chr16	66884964	66884964	T	C	exonic	PDP2	.	nonsynonymous SNV	PDP2:NM_001329929:exon2:c.T680C:p.I227T,PDP2:NM_001329930:exon2:c.T680C:p.I227T,PDP2:NM_001329931:exon2:c.T680C:p.I227T,PDP2:NM_001329934:exon2:c.T680C:p.I227T,PDP2:NM_020786:exon2:c.T680C:p.I227T,PDP2:NM_001329928:exon3:c.T680C:p.I227T,PDP2:NM_001329932:exon3:c.T680C:p.I227T,PDP2:NM_001329933:exon3:c.T680C:p.I227T	.	422	1098	2	0	0	2	0.000909918	.	.	.	2431016	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.0027241257486	.	.	8.27e-05	0	0	0	0	9.038e-05	0	0.0002	6.47e-05	10	154602	rs765928014	6.158e-05	6.156e-05	5.038e-05	7.29e-05	0.0012	5.095e-05	4.716e-05	0.0006	0.0004	0	0.0002	0.0007	0	0	0.0012	2.428e-05	9.936e-05	0.0003	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	9.233e-05	0.0005	0.0004	2.405e-05	0	0.0008	0.0009	0	0	0.0034	5.88e-05	0.0005	0.0002	0.256	0.16793	T	0.396	0.17640	T	0.0	0.02946	B	0.002	0.06944	B	0.021138	0.26895	N	0.343617	1	0.08975	N	1.315	0.32790	L	2.87	0.10386	T	-0.76	0.21215	N	0.166	0.17553	-0.9966	0.30865	T	0.019	0.08173	T	10	0.03699884	0.02028	T	0.002724	0.05608	T	0.132	0.35948	.	.	0.371157983038	0.36729	0.4896858394628437	0.48888	0.313891519587	0.33679	0.370409578085	0.20890	T	0.055971	0.30157	T	-0.365557	0.03825	T	-0.466682	0.25875	T	0.0100019275533726	0.00134	T	0.720928	0.33404	T	0.04128912	0.06054	0.057942133	0.10622	0.04128912	0.06053	0.057942133	0.10621	-3.038	0.10596	T	.	.	0.055	0.00368	B	.;.	.;.	0.880098	0.12533	9.062	0.78938773671222995	0.12519	0.30225	0.24027	N	AEFGBI	0.063216	0.12200	N	-0.6682467462043	0.16930	0.8669184	-0.607250935938494	0.19307	1.035249	0.997880027282597	0.36150	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.72	0.397	0.15537	0.816000	0.26924	0.438000	0.18395	0.654000	0.53741	0.232000	0.24664	0.017000	0.20586	0.997000	0.79791	0.0:0.3041:0.0:0.6959	9.635	0.38969	87	0.96348	PPM-type phosphatase domain|PPM-type phosphatase domain|PPM-type phosphatase domain;PPM-type phosphatase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3318.43	34	chr16	66884964	.	T	C	3318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.71;DP=574;ExcessHet=0;FS=5.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.278;SOR=0.445	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,108,1267	9	0	1	0
chr16	66910357	66910357	G	C	exonic	CDH16	.	nonsynonymous SNV	CDH16:NM_001204746:exon14:c.C1779G:p.S593R,CDH16:NM_001204744:exon15:c.C2004G:p.S668R,CDH16:NM_001204745:exon15:c.C1953G:p.S651R,CDH16:NM_004062:exon15:c.C2070G:p.S690R	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00656485136569	0.0016	0.000399361	0.0020	0	0.0003	0	0.0002	0.0032	0.0022	0.0012	0.0018564	287	154602	rs142042494	0.0015	0.0015	0.0015	0.0016	0.0017	0.0015	0.0015	0.0010	0.0009	5.974e-05	0.0005	0.0421	0	5.616e-05	0.0017	0.0007	0.0038	0.0012	0.0015	0.0015	0.0017	0.0014	0.0012	0.0014	0.0013	0.0008	0.0007	0.0002	0	0.0005	0.0403	0	0	0	0.0010	0.0024	0.0012	0.145	0.30800	T	0.478	0.18018	T	0.005	0.17086	B	0.004	0.16012	B	0.123516	0.18915	N	0.565925	0.999999	0.08975	N	1.295	0.32453	L	0.52	0.55266	T	-1.62	0.40468	N	0.154	0.42834	-1.0789	0.07563	T	0.063	0.26172	T	10	0.0035610795	0.00064	T	0.006565	0.17301	T	0.072	0.21020	0.476	0.55342	0.195762928549	0.19159	0.7846424074103809	0.78415	0.0759756441061	0.08528	0.292147934437	0.09236	T	0.037705	0.24575	T	-0.467596	0.00880	T	-0.484979	0.23919	T	0.0298016909356287	0.01959	T	0.738226	0.36288	T	0.09034356	0.21138	0.083741546	0.19212	0.09034356	0.21138	0.083741546	0.19212	-4.9	0.43066	T	.	.	0.111	0.21390	B	.;.;.;.;.	.;.;.;.;.	-1.478418	0.00308	0.005	0.89815605114033514	0.19126	0.02242	0.06502	N	AEFBCI	0.062101	0.11917	N	-1.52300796265902	0.01699	0.07436499	-1.6668005320288	0.01291	0.05824722	0.999994665291832	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.9	-9.8	0.00408	-2.437000	0.01094	-3.087000	0.03073	-1.670000	0.00801	0.000000	0.06391	0.000000	0.08366	0.278000	0.23967	0.2986:0.2914:0.2141:0.196	0.720	0.00879	109	0.95526	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1942.43	37	chr16	66910357	.	G	C	1942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.876;DP=457;ExcessHet=0;FS=6.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=-1.407;SOR=0.33	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr16	67189045	67189045	G	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon3:c.C182A:p.T61N	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00436589825423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.27080	T	0.36	0.38891	T	0.002	0.17086	B	0.002	0.19966	B	0.000494	0.43931	N	0.232813	0.809768	0.34624	D	1.365	0.34158	L	3.15	0.17923	T	0.58	0.02598	N	0.239	0.26957	-1.0334	0.19363	T	0.025	0.10464	T	10	0.14762154	0.27968	T	0.004366	0.10624	T	0.023	0.04649	0.283	0.23961	0.378674557249	0.37480	0.2518616028663362	0.25100	0.0543356685128	0.06005	0.402533233166	0.25422	T	0.002754	0.02146	T	-0.234686	0.16033	T	-0.574886	0.15004	T	0.384218245744705	0.28345	T	0.637636	0.37414	T	0.04451879	0.07129	0.056354422	0.10053	0.04451879	0.07129	0.056354422	0.10052	-4.308	0.28288	T	.	.	0.082	0.37802	B	.;.;.;.	.;.;.;.	1.993882	0.25335	16.72	0.95860447724277309	0.28019	0.84657	0.43742	D	AEFDBI	0.447129	0.50290	N	-0.294217663358033	0.29371	1.628171	-0.126217422228936	0.34337	1.973981	0.999865252381124	0.44398	0.554377	0.28877	0	0.59043	0.45803	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.4	3.01	0.33872	3.642000	0.54101	6.180000	0.54618	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0916:0.0:0.4887:0.4197	6.781	0.22829	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1207.43	34	chr16	67189045	.	G	T	1207.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.449;DP=416;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=-0.825;SOR=0.946	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1219,0,1060	9	0	1	0
chr16	67193474	67193474	T	C	exonic	E2F4	.	nonsynonymous SNV	E2F4:NM_001950:exon4:c.T410C:p.L137S	.	429	1083	9	1	0	11	0.00505282	0.4131	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.00950207212434	.	0.000399361	0.0002	0	0.0002	0	0	0.0001	0	0.0005	0.0001358	21	154602	rs202020885	0.0001	0.0001	8.712e-05	0.0001	0.0014	9.333e-05	8.817e-05	0.0007	0.0005	8.961e-05	0.0003	0.0007	0	0	0.0014	4.586e-05	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0	0	0.0010	0.0009	0	0	0.0034	0.0002	0.0009	0.0004	0.098	0.30800	T	0.206	0.27056	T	0.917	0.50750	P	0.421	0.45113	B	0.336219	0.14035	N	0.703399	0.999231	0.46406	D	2.27	0.64531	M	2.08	0.20255	T	-2.53	0.54864	D	0.687	0.69300	-1.1134	0.02793	T	0.053	0.22655	T	10	0.19820952	0.35782	T	0.009502	0.24878	T	0.189	0.46613	.	.	0.591791014774	0.58856	0.5366381676944586	0.53588	0.285334489928	0.30943	0.730908751488	0.71639	T	0.235799	0.60314	T	-0.32195	0.06739	T	-0.336072	0.40790	T	0.165641661766972	0.18279	T	0.672333	0.28093	T	0.37023276	0.58602	0.26471442	0.52295	0.37023276	0.58603	0.26471442	0.52294	-11.386	0.81732	D	.	.	0.576	0.67894	P	.	.	5.492211	0.91494	32	0.94090689682085182	0.24246	0.90731	0.52154	D	AEFBCI	0.662610	0.63242	D	0.371654984131442	0.59891	4.172489	0.393942220486383	0.61191	4.315774	0.99999754418992	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	4.81	3.72	0.41857	5.673000	0.67781	5.100000	0.47427	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0914:0.0:0.9086	8.813	0.34137	39	0.97975	E2F transcription factor, CC-MB domain|E2F transcription factor, CC-MB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2206.43	38	chr16	67193474	.	T	C	2206.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=557;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.094;SOR=0.513	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1329	9	0	1	0
chr16	67230180	67230180	C	A	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon20:c.G3100T:p.V1034F,FHOD1:NM_001318202:exon22:c.G3178T:p.V1060F	.	418	1095	9	0	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0003	0.014377	0.0097	0.0007	0.0006	0.0017	0	1.501e-05	0.0055	0.0686	0.0082664	1278	154602	rs146514223	0.0039	0.0039	0.0022	0.0056	0.0622	0.0038	0.0038	0.0608	0.0602	0.0003	8.944e-05	3.826e-05	0.0016	0	0.0017	2.878e-05	0.0044	0.0622	0.0021	0.0021	0.0011	0.0032	0.0578	0.0019	0.0019	0.0522	0.0500	0.0004	0	0.0003	0	0.0035	0	0	1.47e-05	0.0024	0.0578	0.126	0.27194	T	0.283	0.21478	T	0.542	0.37927	P	0.22	0.37792	B	0.101882	0.19818	N	0.542263	0.964308	0.39981	D	2.52	0.73523	M	1.22	0.37052	T	-1.45	0.35597	N	0.405	0.44570	-1.0654	0.10456	T	0.081	0.32119	T	10	0.0030546486	0.00050	T	.	.	.	0.049	0.13647	.	.	0.647617134539	0.64469	0.2737673664105686	0.27289	0.364620806895	0.38079	0.469140261412	0.34561	T	0.038751	0.24948	T	-0.47986	0.00740	T	-0.412595	0.31926	T	0.00336669596313559	0.00035	T	0.678032	0.28700	T	0.09554652	0.22489	0.0645615	0.12958	0.09554652	0.22489	0.0645615	0.12957	-5.17	0.38635	T	.	.	0.102	0.18080	B	.	.	2.729566	0.35726	19.97	0.98811672444758258	0.46623	0.97873	0.77771	D	AEFGBCI	0.424698	0.48976	N	-0.0940516455453432	0.37654	2.193736	-0.0723755983642936	0.36536	2.127577	0.999984130125693	0.51787	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.33	2.26	0.27418	0.700000	0.25278	-0.056000	0.12484	0.599000	0.40250	0.868000	0.30757	0.063000	0.22074	0.773000	0.36634	0.0:0.7242:0.0:0.2758	7.254	0.25343	25	0.98345	Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.030303	0.05	1582.43	33	chr16	67230180	.	C	A	1582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.863;DP=437;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.507;SOR=0.83	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1298	9	0	1	0
chr16	67266201	67266201	G	A	exonic	SLC9A5	.	nonsynonymous SNV	SLC9A5:NM_001323972:exon14:c.G1891A:p.V631I,SLC9A5:NM_001323973:exon15:c.G2191A:p.V731I,SLC9A5:NM_001323974:exon15:c.G1306A:p.V436I,SLC9A5:NM_001323975:exon15:c.G1309A:p.V437I,SLC9A5:NM_004594:exon15:c.G2194A:p.V732I	.	.	.	.	.	.	.	.	.	.	.	3606895	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00619597294615	.	.	8.29e-05	0.0001	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs760420354	2.75e-05	2.873e-05	1.368e-05	4.147e-05	0.0004	2.073e-05	1.825e-05	0.0003	0.0003	0	0	0	0	0	0	0	3.326e-05	0.0004	2.626e-05	2.624e-05	1.285e-05	4.028e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0.0005	0.0006	0.325	0.13349	T	0.251	0.23638	T	0.012	0.16265	B	0.002	0.06944	B	0.231472	0.15911	N	0.579610	0.992844	0.23815	N	0.345	0.11182	N	0.5	0.55608	T	-0.32	0.12283	N	0.242	0.27316	-1.0468	0.15303	T	0.083	0.32470	T	10	0.08481455	0.14254	T	0.006196	0.16229	T	0.068	0.19811	0.438	0.49157	0.69532546495	0.69270	0.1433803339657635	0.14261	0.477404131541	0.46858	0.518501162529	0.41415	T	0.020328	0.16027	T	-0.447094	0.01175	T	-0.572579	0.15214	T	0.0776782376979443	0.09688	T	0.813419	0.46649	T	0.06427301	0.13619	0.04495807	0.05943	0.06427301	0.13618	0.04495807	0.05942	-4.524	0.31201	T	.	.	0.074	0.05231	B	.	.	2.960027	0.39413	21.0	0.95219920078862097	0.26438	0.61464	0.31492	D	AEFBCI	0.123173	0.23865	N	-0.0675863166655209	0.38821	2.279623	0.0989912665858934	0.44497	2.730431	0.998436892055128	0.36959	0.634777	0.41761	0	0.633656	0.55848	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	4.79	4.79	0.60909	3.541000	0.53373	8.602000	0.77731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0898:0.0:0.9102:0.0	10.462	0.43772	23	0.98420	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	759.43	33	chr16	67266201	.	G	A	759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.146;DP=386;ExcessHet=0;FS=8.369;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.52;SOR=0.316	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1249	9	0	1	0
chr16	67280224	67280224	G	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon1:c.G180T:p.E60D,PLEKHG4:NM_001129728:exon2:c.G180T:p.E60D,PLEKHG4:NM_001129729:exon2:c.G180T:p.E60D,PLEKHG4:NM_001129727:exon3:c.G180T:p.E60D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00392399736175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.665	0.24183	T	0.829	0.07691	T	0.007	0.14184	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.0	0.09356	T	0.37	0.15379	N	0.099	0.10340	-0.9395	0.42695	T	0.016	0.06664	T	9	0.049572855	0.04567	T	0.003924	0.09242	T	0.025	0.05312	0.071	0.00418	0.237489013734	0.23353	0.07627829696260831	0.07563	0.240294816583	0.26575	0.354922652245	0.18644	T	0.01263	0.19900	T	-0.294814	0.09159	T	-0.661257	0.08182	T	0.0605525633088685	0.07255	T	0.639136	0.25296	T	0.045333166	0.07402	0.045889445	0.06274	0.045333166	0.07401	0.045889445	0.06274	-3.471	0.16713	T	.	.	0.071	0.10400	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.798412	0.11688	8.271	0.95249891704369249	0.26504	0.09029	0.14865	N	AEFDGBI	0.077126	0.15532	N	-0.976543398578974	0.09106	0.4296346	-0.996784135009338	0.09857	0.4928906	0.999990191912078	0.74766	0.676563	0.55306	0	0.55458	0.17659	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	3.73	1.54	0.22290	1.196000	0.31807	1.920000	0.29703	0.602000	0.45918	0.009000	0.18154	0.955000	0.29136	0.038000	0.14061	0.0:0.2052:0.5837:0.2112	6.242	0.20008	23	0.98420	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	834.43	40	chr16	67280224	.	G	T	834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.418;DP=421;ExcessHet=0;FS=1.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=1.4;SOR=0.67	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	9	0	1	0
chr16	67286908	67286908	C	T	exonic	PLEKHG4	.	nonsynonymous SNV	PLEKHG4:NM_001129731:exon15:c.C2671T:p.R891C,PLEKHG4:NM_001129728:exon17:c.C2914T:p.R972C,PLEKHG4:NM_001129729:exon17:c.C2914T:p.R972C,PLEKHG4:NM_001129727:exon18:c.C2914T:p.R972C	.	1	1508	13	0	0	13	0.00429185	.	.	.	2808035	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.313	0.0362873754147	0.0017	0.00119808	0.0022	9.653e-05	0.0005	0.0006	0	0.0034	0.0033	0.0013	0.0020051	310	154602	rs80024062	0.0017	0.0017	0.0016	0.0017	0.0014	0.0016	0.0016	0.0012	0.0011	2.987e-05	0.0006	0.0424	0.0006	0	0.0014	0.0009	0.0039	0.0014	0.0017	0.0017	0.0018	0.0015	0.0019	0.0015	0.0014	0.0010	0.0008	0.0002	0	0.0005	0.0407	0.0019	0	0	0.0010	0.0033	0.0017	0.08	0.33585	T	0.003	0.79402	D	1.0	0.90584	D	0.983	0.75793	D	0.005064	0.33125	N	0.000000	0.999989	0.54805	D	1.745	0.45235	L	2.74	0.11730	T	-5.67	0.87143	D	0.658	0.66787	-1.1140	0.02748	T	0.069	0.28346	T	10	0.01246953	0.00268	T	0.036287	0.56894	D	0.313	0.63482	.	.	0.430239905395	0.42638	0.4733310284293918	0.47252	0.391337161651	0.40333	0.352769613266	0.18329	T	0.235184	0.60238	T	-0.398748	0.02360	T	-0.380928	0.35614	T	0.0934425777524848	0.11620	T	0.924308	0.72323	D	0.24664463	0.47635	0.23321064	0.48504	0.24664463	0.47635	0.23321064	0.48503	-6.723	0.51984	T	.	.	0.13	0.27910	B	.;.;.;.	.;.;.;.	5.100168	0.85214	28.5	0.99628910391342329	0.75898	0.99001	0.89785	D	AEFBI	0.812245	0.73503	D	0.469128851146356	0.65298	4.804723	0.458770309501162	0.65284	4.804154	0.9999982697454	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	4.896000	0.62911	6.033000	0.52942	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.387	0.87308	23	0.98420	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1308.43	35	chr16	67286908	.	C	T	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.822;DP=446;ExcessHet=0;FS=2.333;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-1.194;SOR=0.92	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1352	9	0	1	0
chr16	67371039	67371039	C	T	exonic	LRRC36	.	nonsynonymous SNV	LRRC36:NM_001161575:exon6:c.C928T:p.H310Y,LRRC36:NM_018296:exon9:c.C1291T:p.H431Y	.	426	1086	10	0	0	10	0.00458295	.	.	.	2340424	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.044	0.0164827360088	0.0002	.	0.0002	0	0.0003	0	0	0.0001	0	0.0004	0.0001358	21	154602	rs144677421	8.961e-05	8.961e-05	7.759e-05	0.0001	0.0017	7.689e-05	7.233e-05	0.0009	0.0007	0	6.708e-05	0	0	0	0.0017	7.644e-05	0.0002	0.0003	5.257e-05	5.253e-05	3.854e-05	6.727e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	6.547e-05	0	0	0	0	0.0001	0	0	0.054	0.38633	T	0.276	0.21947	T	0.701	0.42542	P	0.346	0.42645	B	0.314166	0.14381	N	0.664720	1	0.81001	D	1.495	0.37439	L	3.04	0.35219	T	-1.33	0.42001	N	0.261	0.29544	-1.0155	0.25175	T	0.130	0.44069	T	10	0.098309815	0.17765	T	0.016483	0.37757	T	0.044	0.11924	.	.	0.392547445146	0.38869	0.3168248054228571	0.31595	0.714737894596	0.61901	0.353140413761	0.18383	T	0.002083	0.01490	T	-0.433154	0.01419	T	-0.549453	0.17379	T	0.0497184954583645	0.05451	T	0.745225	0.36553	T	0.082607225	0.19039	0.12017253	0.29003	0.082607225	0.19039	0.12017253	0.29002	-3.537	0.16954	T	.	.	0.086	0.16010	B	.;.;.	.;.;.	1.749504	0.22256	15.55	0.99246372967254626	0.56727	0.46133	0.27692	N	AEFDGBI	0.276327	0.39109	N	-0.133271744339978	0.35950	2.071479	-0.173835287811809	0.32501	1.849785	0.841179583590284	0.24870	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.7	3.73	0.41982	2.710000	0.46837	2.701000	0.34161	0.587000	0.30956	0.532000	0.27205	0.119000	0.22882	0.204000	0.22012	0.0:0.7495:0.1638:0.0867	7.774	0.28191	22	0.98466	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.017241	0.000000	0.003788	0.05	1548.43	33	chr16	67371039	.	C	T	1548.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.108;DP=447;ExcessHet=0;FS=1.408;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=-0.214;SOR=0.567	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1560,0,1626	9	0	1	0
chr16	67652479	67652479	G	A	exonic	CARMIL2	.	nonsynonymous SNV	CARMIL2:NM_001013838:exon28:c.G2825A:p.S942N,CARMIL2:NM_001317026:exon29:c.G2717A:p.S906N	.	433	1073	14	2	0	18	0.00831793	.	.	.	1157787	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.060	.	8e-05	0.014976	0.0106	0.0001	0.0004	0	0.0002	6.141e-05	0.0081	0.0769	0.0088938	1375	154602	rs372932175	0.0044	0.0044	0.0024	0.0065	0.0721	0.0044	0.0043	0.0706	0.0699	8.962e-05	2.237e-05	0.0005	5.038e-05	0	0.0014	2.698e-05	0.0038	0.0721	0.0022	0.0023	0.0011	0.0035	0.0687	0.0021	0.0020	0.0626	0.0602	0.0001	0	0.0001	0	0	0	0	1.47e-05	0.0014	0.0687	0.287	0.24090	T	0.358	0.17064	T	0.18	0.29046	B	0.056	0.26147	B	0.000310	0.00561	U	6.097970	0.999998	0.08975	N	.	.	.	2.61	0.13095	T	-0.76	0.21215	N	0.159	0.21056	-1.0373	0.18140	T	0.037	0.15943	T	10	0.0019447505	0.00027	T	.	.	.	0.060	0.17295	.	.	.	.	0.12855300607498168	0.12780	0.164794538668	0.18593	0.265383541584	0.05548	T	0.021559	0.16767	T	-0.687812	0.00043	T	-0.70651	0.05477	T	0.0115249985081326	0.00174	T	0.49835	0.15517	T	0.05509734	0.10661	0.062686674	0.12302	0.05270631	0.09870	0.062686674	0.12301	-6.062	0.46795	T	0.21355687140080465	0.28678	0.090	0.12560	B	.;.	.;.	1.485733	0.19121	14.10	0.98005277828551618	0.37513	0.03977	0.09390	N	AEFDGBCI	0.113088	0.22328	N	-0.457278597782386	0.23495	1.262057	-0.452157800880666	0.23488	1.281148	0.999997807865729	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	4.29	3.25	0.36363	0.554000	0.23113	0.366000	0.17626	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.715000	0.34611	0.0:0.0:0.7763:0.2237	8.841	0.34301	44	0.97806	CARMIL, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.000000	0.005882	0.000000	0.000000	0.003049	0.045455	0.1	3109.14	34	chr16	67652479	.	G	A	3109.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.07;DP=561;ExcessHet=0.2348;FS=3.474;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.096;SOR=0.907	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1373	8	0	2	0
chr16	67654664	67654664	A	C	exonic	CARMIL2	.	nonsynonymous SNV	CARMIL2:NM_001013838:exon31:c.A3554C:p.E1185A,CARMIL2:NM_001317026:exon32:c.A3446C:p.E1149A	.	418	1089	14	1	0	16	0.00729262	.	.	.	1157793	CARMIL2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00791271399015	0.0010	0.000998403	0.0010	0.0001	0.0006	0	0	0.0010	0	0.0037	0.001009	156	154602	rs200875393	0.0016	0.0016	0.0015	0.0016	0.0037	0.0015	0.0015	0.0034	0.0032	0.0002	0.0007	0.0027	0	1.943e-05	0.0025	0.0016	0.0019	0.0037	0.0009	0.0009	0.0010	0.0009	0.0035	0.0008	0.0008	0.0022	0.0018	0.0002	0	0.0010	0.0049	0.0002	0	0	0.0012	0.0009	0.0035	0.005	0.65419	D	0.163	0.38450	T	0.877	0.48223	P	0.411	0.44827	B	0.025933	0.26005	N	0.329212	0.975682	0.39210	D	.	.	.	2.32	0.16953	T	-2.76	0.59226	D	0.289	0.43803	-1.1226	0.02173	T	0.038	0.16203	T	10	0.0069001615	0.00157	T	0.007913	0.20981	T	0.053	0.14996	.	.	0.520640030592	0.51707	0.5879898043667565	0.58728	0.741734264216	0.63298	0.584869146347	0.50771	T	0.029908	0.21325	T	-0.454216	0.01066	T	-0.427016	0.30274	T	0.0269230141908315	0.01533	T	0.812719	0.46458	T	0.17332664	0.38074	0.16284099	0.37806	0.17332664	0.38074	0.16284099	0.37805	-3.391	0.14936	T	0.4057487227912781	0.49686	0.125	0.26514	B	.;.	.;.	3.260419	0.44588	22.0	0.98125260785448076	0.38473	0.80328	0.39995	D	AEFDGBCI	0.352212	0.44505	N	0.253232272755021	0.53800	3.547352	0.34299156883572	0.58085	3.97726	0.999999999999981	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.493711	0.08198	1	0.63947	0.58350	0	.	.	5.99	5.99	0.97299	2.651000	0.46338	9.247000	0.79462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	1.0:0.0:0.0:0.0	14.736	0.69031	44	0.97806	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	1291.43	37	chr16	67654664	.	A	C	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.866;DP=462;ExcessHet=0;FS=5.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.077;SOR=0.347	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1269	9	0	1	0
chr16	67657672	67657672	C	G	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon12:c.G1311C:p.Q437H,ACD:NM_022914:exon12:c.G1302C:p.Q434H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0311390190662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.92824	D	0.969	0.60036	D	0.62	0.57669	P	0.336952	0.14024	N	0.649555	0.829762	0.28775	N	2.36	0.67893	M	.	.	.	.	.	.	0.442	0.49965	-0.9764	0.35816	T	0.129	0.43686	T	10	0.45340052	0.58840	T	0.031139	0.53292	D	0.226	0.52472	0.747	0.87821	0.493089126863	0.48943	0.3165098618646812	0.31563	0.388317512424	0.40095	0.376372456551	0.21742	T	0.595732	0.86970	D	-0.0940348	0.37410	T	-0.372851	0.36556	T	0.883783161640167	0.53398	D	0.781422	0.41649	T	0.374305	0.58901	0.191424	0.42600	0.374305	0.58901	0.191424	0.42599	.	.	.	0.6761204448583776	0.75184	0.336	0.56520	B	.;.;.;.;.;.	.;.;.;.;.;.	2.836690	0.37416	20.5	0.99677149233791107	0.78977	0.81381	0.40796	D	AEFDGBCI	0.181212	0.30853	N	0.0060398995760533	0.42129	2.532622	-0.0285759514601778	0.38431	2.264012	0.999952230129422	0.48110	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	2.16	0.26663	0.842000	0.27280	0.227000	0.16144	-0.257000	0.07002	0.001000	0.13787	0.975000	0.29991	0.922000	0.45779	0.0:0.7205:0.0:0.2795	7.217	0.25143	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1322.43	95	chr16	67657672	.	C	G	1322.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.781;DP=507;ExcessHet=0;FS=3.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.13;ReadPosRankSum=-1.426;SOR=1.157	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1123	9	0	1	0
chr16	67663656	67663656	C	T	splicing	ENKD1	NM_032140:exon5:c.743+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0001	0	0	0	0	0	0.0013	3.84e-05	1	26028	rs755981923	6.036e-05	6.02e-05	3.137e-05	8.968e-05	0.0010	4.974e-05	4.639e-05	0.0008	0.0007	0	0	0	0	0	0	0	8.306e-05	0.0010	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0012	2.107e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00123637	0.51824	T	0.157513	0.80652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.352814	0.89789	31	0.99153721574365528	0.53903	0.87774	0.47429	D	AEFDGBHCI	.	.	.	0.930865164401726	0.93187	11.87712	0.743051015025649	0.85637	8.640397	1.0	0.98316	0.159173	0.03462	2	0.388177	0.06301	1	0.097195	0.03014	1	0.074847	0.01849	1	0.979559	0.84268	5.25	5.25	0.73169	4.128000	0.57705	7.646000	0.63445	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.580000	0.30894	0.0:1.0:0.0:0.0	17.614	0.87964	41	0.97903	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1604.43	34	chr16	67663656	.	C	T	1604.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=429;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=0.633;SOR=0.541	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1162	9	0	1	0
chr16	67832541	67832541	G	C	exonic	CENPT	.	nonsynonymous SNV	CENPT:NM_025082:exon5:c.C115G:p.R39G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0226183304578	.	0.000599042	0.0004	0.0001	8.74e-05	0	0	3.024e-05	0	0.0025	0.000304	47	154602	rs202239829	0.0002	0.0002	9.668e-05	0.0002	0.0024	0.0001	0.0001	0.0021	0.0020	5.975e-05	0	0	0	0	0.0002	8.096e-06	0.0002	0.0024	0.0001	0.0001	5.14e-05	0.0002	0.0031	7.087e-05	5.744e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0031	0.012	0.61437	D	0.281	0.53426	T	0.065	0.23521	B	0.063	0.27082	B	0.119219	0.19083	N	0.453528	1	0.23391	N	0.69	0.16971	N	0.14	0.60854	T	-2.28	0.71997	N	0.194	0.32259	-0.9453	0.41764	T	0.134	0.44759	T	10	0.010240644	0.00229	T	0.022618	0.45526	T	0.041	0.10877	0.176	0.08257	0.658464116293	0.65560	0.06546886117097915	0.06485	0.120251048276	0.13543	0.413788050413	0.26981	T	0.009389	0.37743	T	-0.411273	0.01949	T	-0.369399	0.36960	T	0.100699387114017	0.12434	T	0.70483	0.35027	T	0.18002081	0.39102	0.18334307	0.41317	0.18002081	0.39102	0.18334307	0.41317	-5.534	0.42185	T	.	.	0.090	0.24532	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.351472	0.46229	22.3	0.97641822467131956	0.35086	0.88652	0.48681	D	AEFBI	0.177195	0.30443	N	-0.42189951737633	0.24702	1.335747	-0.382466161478563	0.25520	1.403913	0.999945963278282	0.47345	0.722319	0.85440	0	0.581341	0.33841	0	0.80507	0.99327	0	0.735409	0.98432	0	.	.	4.29	3.32	0.37134	2.385000	0.44025	7.695000	0.65987	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.337000	0.25363	0.0:0.0:0.7952:0.2048	9.764	0.39717	8	0.99202	Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain;Centromere kinetochore component CENP-T, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	816.43	33	chr16	67832541	.	G	C	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.589;DP=408;ExcessHet=0;FS=4.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=1.27;SOR=0.358	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	9	0	1	0
chr16	67940328	67940328	C	T	exonic	LCAT	.	nonsynonymous SNV	LCAT:NM_000229:exon6:c.G899A:p.R300H	Fish-eye disease, Autosomal recessive;Norum disease, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	1821024	Norum_disease|Fish-eye_disease|Cardiovascular_phenotype	MONDO:MONDO:0009515,MedGen:C0023195,OMIM:245900,Orphanet:79293|MONDO:MONDO:0007620,MedGen:C0342895,OMIM:136120,Orphanet:650,Orphanet:79292|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.229	0.0908424438141	.	.	0.0001	9.612e-05	0	0	0	7.509e-05	0	0.0004	9.06e-05	14	154602	rs770469492	7.183e-05	7.182e-05	4.901e-05	9.488e-05	0.0004	6.047e-05	5.595e-05	0.0003	0.0003	0	6.708e-05	0	0	0	0	4.946e-05	0.0001	0.0004	7.885e-05	7.88e-05	7.708e-05	8.07e-05	0.0006	4.497e-05	3.512e-05	0.0002	8.981e-05	4.827e-05	0	0	0	0	0	0	0.0001	0	0.0006	0.219	0.19023	T	0.134	0.34241	T	0.009	0.15093	B	0.008	0.13708	B	0.008134	0.31003	U	0.275188	0.921803	0.27275	N	1.185	0.30054	L	-3.69	0.95317	D	-1.32	0.32991	N	0.133	0.12913	-0.2803	0.75532	T	0.622	0.86676	D	10	0.21064767	0.37466	T	0.090842	0.75594	D	0.229	0.52916	.	.	0.957517869812	0.95706	0.5075213809769629	0.50674	0.504634987189	0.48735	0.215147793293	0.01049	T	0.595513	0.86960	D	-0.193861	0.21694	T	-0.211697	0.53534	T	0.0623886622488499	0.07541	T	0.90251	0.70434	D	0.16244142	0.36321	0.06663301	0.13677	0.10199722	0.24096	0.059651718	0.11231	-4.241	0.27341	T	0.20896088375421326	0.27962	0.072	0.04159	B	.;.	.;.	2.329964	0.29844	18.25	0.99078159212534112	0.51906	0.81449	0.40850	D	AEFDBHCIJ	0.349523	0.44328	N	-0.445129956256449	0.23905	1.287069	-0.252746561499493	0.29677	1.664595	0.999994963837875	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.88	3.1	0.34780	0.429000	0.21131	-0.122000	0.11711	0.599000	0.40250	0.973000	0.34540	0.003000	0.18671	0.970000	0.54328	0.0:0.6542:0.0:0.3458	7.457	0.26442	8	0.99202	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1892.43	38	chr16	67940328	.	C	T	1892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.582;DP=494;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=1.67;SOR=0.694	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1004	9	0	1	0
chr16	67990129	67990129	C	A	exonic	DPEP2	.	nonsynonymous SNV	DPEP2:NM_001324159:exon6:c.G438T:p.K146N,DPEP2:NM_001369657:exon7:c.G912T:p.K304N,DPEP2:NM_022355:exon8:c.G912T:p.K304N	.	430	1077	13	2	0	17	0.00783049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	.	7.7e-05	0.00998403	0.0082	9.623e-05	0.0003	0	0.0002	4.5e-05	0.0077	0.0592	0.0069081	1068	154602	rs372203515	0.0035	0.0035	0.0018	0.0052	0.0564	0.0034	0.0034	0.0551	0.0545	8.961e-05	2.236e-05	0.0005	2.519e-05	0	0.0012	2.248e-05	0.0027	0.0564	0.0017	0.0017	0.0008	0.0026	0.0513	0.0015	0.0015	0.0461	0.0440	0.0001	0	0.0001	0	0	0	0	0	0.0005	0.0513	0.092	0.31682	T	0.184	0.29056	T	0.037	0.20876	B	0.086	0.29521	B	0.000004	0.62929	D	0.102807	0.993815	0.42062	D	2.53	0.73802	M	1.9	0.23486	T	-3.02	0.62630	D	0.57	0.59393	-1.0424	0.16592	T	0.080	0.31765	T	10	0.0039188564	0.00075	T	.	.	.	0.139	0.37390	0.563	0.68364	0.282179105231	0.27821	0.6950166867755903	0.69442	.	.	0.512347817421	0.40550	T	0.12025	0.44235	T	-0.510656	0.00498	T	-0.464563	0.26104	T	0.0553607323189366	0.06418	T	0.940306	0.77652	D	0.30536777	0.53381	0.4052117	0.64928	0.30536777	0.53381	0.4052117	0.64928	-7.755	0.59389	D	.	.	0.455	0.68416	A	.;.;.	.;.;.	3.024635	0.40491	21.2	0.98244671894312474	0.39512	0.82247	0.41503	D	AEFBHCI	0.485849	0.52527	N	-0.333708933791181	0.27876	1.532926	-0.280359733264758	0.28744	1.605133	0.999999782038535	0.74766	0.533608	0.22052	0	0.26897	0.04874	2	0.59043	0.30614	0	0.638833	0.57524	0	.	.	4.55	3.55	0.39770	1.037000	0.29850	0.595000	0.19862	-0.313000	0.06017	1.000000	0.71638	0.997000	0.33255	0.258000	0.23468	0.0:0.8814:0.0:0.1186	7.842	0.28565	10	0.99061	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.041667	0.05	1851.43	34	chr16	67990129	.	C	A	1851.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.115;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.21;SOR=0.658	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1229	9	0	1	0
chr16	68828281	68828281	G	C	exonic	CDH1	.	nonsynonymous SNV	CDH1:NM_001317184:exon13:c.G2089C:p.E697Q,CDH1:NM_001317186:exon13:c.G307C:p.E103Q,CDH1:NM_001317185:exon14:c.G724C:p.E242Q,CDH1:NM_004360:exon14:c.G2272C:p.E758Q	Endometrial carcinoma, somatic;Gastric cancer, familial diffuse, with or without cleft lip and/or palate, Autosomal dominant;Ovarian carcinoma, somatic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.089440474657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.113e-06	0.0001	2.729e-06	5.511e-06	5.41e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.51248	D	0.062	0.49390	T	1.0	0.90584	D	1.0	0.97372	D	0.000363	0.45194	D	0.000000	0.999999	0.58761	D	2.535	0.73915	M	-1.59	0.82076	D	-2.77	0.58733	D	0.553	0.57860	0.600	0.91895	D	0.727	0.90658	D	10	0.50837284	0.61952	D	0.08944	0.75327	D	0.716	0.89922	0.667	0.80502	0.955453839657	0.95498	0.8589841526515866	0.85861	0.901354855463	0.70653	0.710164666176	0.68617	T	0.596272	0.86994	D	0.110966	0.65452	D	-0.0783812	0.65023	T	0.980278690940645	0.73272	D	0.941806	0.85685	D	0.69648063	0.77865	0.47090107	0.69321	0.69648063	0.77866	0.47090107	0.69321	-9.267	0.72188	D	0.4347497002971249	0.52129	0.957	0.87731	P	.;.;.	.;.;.	5.187613	0.86995	29.1	0.99831881498280306	0.91370	0.95925	0.66748	D	AEFBCI	0.959031	0.97914	D	0.770012994540675	0.84199	8.222184	0.709284939559444	0.83082	7.929737	0.999387407795527	0.39415	0.67177	0.52595	0	0.670034	0.63936	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.35	4.37	0.51830	7.887000	0.85804	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1371:0.8629:0.0	15.754	0.77777	356	0.85138	Cadherin, cytoplasmic domain;Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	66.61	151	chr16	68828281	.	G	C	66.61	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.294;DP=1213;ExcessHet=0.7463;FS=192.644;InbreedingCoeff=-0.3149;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=0.39;SOR=9.419	GT:AD:DP:GQ:PL	0/1:89,15:104:6:6,0,1763	3	0	3	4
chr16	68867197	68867197	G	A	exonic	TANGO6	.	nonsynonymous SNV	TANGO6:NM_024562:exon4:c.G971A:p.R324Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0370404740952	0.0002	.	0.0003	0	0	0	0	0.0003	0	0.0012	0.0002587	40	154602	rs374162312	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0002	0.0010	0.0009	0	0.0002	0.0006	5.038e-05	0	0.0012	0.0001	0.0002	0.0012	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	0	0	0.0010	0.0020	0	0	0	5.882e-05	0.0014	0.0004	0.005	0.63226	D	0.016	0.60972	D	0.963	0.55692	D	0.368	0.43478	B	.	.	.	.	0.996995	0.43556	D	2.22	0.62911	M	-0.52	0.70717	T	-1.52	0.36980	N	0.74	0.74007	-0.4870	0.69115	T	0.331	0.69851	T	9	0.21896958	0.38554	T	0.03704	0.57367	D	0.299	0.61955	.	.	0.735056284187	0.73269	0.4900717176195401	0.48927	0.396799894133	0.40792	0.802903413773	0.82407	T	0.04199	0.26039	T	-0.11216	0.34413	T	0.0156724	0.71349	D	0.145185843681111	0.16713	T	0.842116	0.51841	T	0.23003134	0.45751	0.19030544	0.42426	0.23003134	0.45751	0.19030544	0.42425	-7.269	0.55975	T	.	.	0.149	0.32851	B	.	.	4.445512	0.69058	25.3	0.99950671697176829	0.99944	0.94433	0.61150	D	AEFDGBI	0.644734	0.62088	D	0.565766331806595	0.71047	5.591937	0.626015288159323	0.76836	6.564787	0.99974998911823	0.42466	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.83	5.83	0.93059	6.869000	0.75317	5.550000	0.48891	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.879	0.92319	331	0.86429	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2048.43	34	chr16	68867197	.	G	A	2048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=538;ExcessHet=0;FS=3.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.98;MQRankSum=0.875;QD=11.51;ReadPosRankSum=0.185;SOR=0.44	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1438	9	0	1	0
chr16	69692514	69692516	CAA	-	exonic	NFAT5	.	nonframeshift deletion	NFAT5:NM_001367709:exon12:c.2014_2016del:p.Q681del,NFAT5:NM_006599:exon12:c.2635_2637del:p.Q888del,NFAT5:NM_001113178:exon13:c.2686_2688del:p.Q905del,NFAT5:NM_138713:exon13:c.2689_2691del:p.Q906del,NFAT5:NM_173214:exon13:c.2407_2409del:p.Q812del,NFAT5:NM_173215:exon13:c.2407_2409del:p.Q812del,NFAT5:NM_138714:exon14:c.2407_2409del:p.Q812del	.	399	1117	6	0	0	6	0.00267857	.	.	.	466617	NFAT5-related_disorder|Immunodeficiency	.|Human_Phenotype_Ontology:HP:0002721,Human_Phenotype_Ontology:HP:0005362,Human_Phenotype_Ontology:HP:0005371,MONDO:MONDO:0021094,MedGen:C0021051,OMIM:PS300755	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0014	0.000998403	0.0014	0.0005	0.0002	0	0.0036	0.0020	0.0011	6.058e-05	0.0008068	21	26028	rs542353221	0.0014	0.0014	0.0014	0.0014	0.0017	0.0013	0.0013	0.0014	0.0014	0.0002	0.0002	0.0044	0	0.0026	0.0017	0.0015	0.0017	0.0001	0.0011	0.0011	0.0010	0.0013	0.0013	0.0010	0.0010	0.0011	0.0010	0.0003	0.0011	0.0002	0.0043	0	0.0043	0	0.0013	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.1	4364.1	160	chr16	69692513	.	TCAA	T	4364.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.18;DP=580;ExcessHet=0.2348;FS=8.259;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=1.23;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1031:.	8	0	2	0
chr16	70132237	70132237	A	G	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon7:c.A634G:p.I212V,PDPR:NM_001322117:exon9:c.A934G:p.I312V,PDPR:NM_017990:exon9:c.A934G:p.I312V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	0.0024	0.0161	0.0012	0	0	0.0004	0.0056	0.0052	0.0019728	305	154602	rs200212343	0.0003	0.0007	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0.0009	0.0003	0.0005	5.038e-05	0	0.0023	9.715e-05	0.0006	0.0028	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.81e-05	0	0.0001	0.0009	0	0	0	0.0002	0.0014	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.019	0.18783	B	0.000000	0.84330	D	0.050662	0.999626	0.47904	D	1.11	0.28643	L	1.69	0.27032	T	0.44	0.03243	N	0.519	0.54932	-1.0736	0.08639	T	0.031	0.13155	T	10	0.010658145	0.00236	T	.	.	.	0.056	0.15993	.	.	0.366466682447	0.36252	0.46028569994023094	0.45946	0.384480209222	0.39746	0.501907587051	0.39094	T	0.018119	0.34819	T	-0.173895	0.24648	T	-0.487565	0.23645	T	0.0139654405173654	0.00268	T	0.922108	0.71672	D	0.03260917	0.03319	0.04228881	0.05003	0.03260917	0.03319	0.04228881	0.05003	-5.65	0.43246	T	.	.	0.077	0.08033	B	.;.;.	.;.;.	1.922213	0.24416	16.39	0.49956463330930956	0.04300	0.68614	0.33869	D	AEFDBHCI	0.430191	0.49300	N	-0.587404041057041	0.19327	1.010584	-0.367217833693819	0.25982	1.432211	0.00141110113601005	0.08519	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.05	0.46415	4.032000	0.56985	5.196000	0.47916	0.645000	0.52629	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.6837:0.3163:0.0:0.0	11.065	0.47190	198	0.92335	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.011364	0.05	95.43	35	chr16	70132237	.	A	G	95.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.246;DP=429;ExcessHet=0;FS=3.566;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.66;MQRankSum=-0.603;QD=0.81;ReadPosRankSum=-0.713;SOR=0.998	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr16	70156499	70156499	G	A	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.G1960A:p.A654T,PDPR:NM_001322119:exon17:c.G1054A:p.A352T,PDPR:NM_001322117:exon19:c.G2260A:p.A754T,PDPR:NM_017990:exon19:c.G2260A:p.A754T	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.731	0.122502253759	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs755313163	4.105e-06	4.788e-06	5.446e-06	2.751e-06	2.52e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	2.52e-05	0	0	2.699e-06	0	2.319e-05	1.97e-05	2.626e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.003	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.989	0.78396	D	0.000053	0.53742	D	0.162984	1	0.81001	D	3.3	0.90472	M	-1.52	0.81478	D	-3.61	0.72120	D	0.52	0.61933	0.824	0.94708	D	0.780	0.92537	D	10	0.9600271	0.95401	D	0.122502	0.80349	D	0.731	0.90589	0.814	0.92925	0.933530200483	0.93284	0.8180442442956175	0.81761	0.3035614747	0.32679	0.442417025566	0.30907	T	0.371838	0.92107	T	0.117683	0.66139	D	0.112795	0.77758	D	0.87972617149353	0.52970	D	0.958004	0.88094	D	0.34017396	0.56293	0.3796138	0.63012	0.34017396	0.56294	0.3796138	0.63012	-8.933	0.67264	D	.	.	0.136	0.45990	B	.;.;.;.;.;.	.;.;.;.;.;.	4.241536	0.64305	24.7	0.9977663556093388	0.86433	0.98907	0.88457	D	AEFDGBI	0.907002	0.86048	D	0.626818863612267	0.74877	6.20785	0.498405537057018	0.67883	5.144182	0.999999999999381	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	5.09	0.68647	8.088000	0.89344	9.765000	0.81528	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.135000	0.19760	0.0:0.0:0.8648:0.1352	16.043	0.80498	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3251.43	248	chr16	70156499	.	G	A	3251.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.39;DP=1002;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.938;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,99,1485:.	9	0	1	0
chr16	70156667	70156667	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon17:c.C2128T:p.R710C,PDPR:NM_001322119:exon17:c.C1222T:p.R408C,PDPR:NM_001322117:exon19:c.C2428T:p.R810C,PDPR:NM_017990:exon19:c.C2428T:p.R810C	.	411	1064	47	0	0	47	0.0216092	.	.	.	3214454	not_provided|PDPR-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.593	.	0.0056	0.00419329	0.0061	0.0051	0.0043	0.0002	0.0018	0.0076	0.0156	0.0065	0.0056209	869	154602	rs141395281	0.0049	0.0062	0.0048	0.0050	0.0207	0.0048	0.0048	0.0177	0.0165	0.0054	0.0050	0.0219	7.557e-05	0.0009	0.0207	0.0046	0.0071	0.0057	0.0054	0.0063	0.0056	0.0052	0.0062	0.0051	0.0050	0.0051	0.0049	0.0048	0	0.0062	0.0196	0.0006	0.0006	0.0377	0.0056	0.0171	0.0058	0.0	0.91255	D	0.0	0.92824	D	0.344	0.33532	B	0.108	0.31289	B	0.000002	0.62929	D	0.060606	1	0.81001	D	1.425	0.35738	L	-1.17	0.78199	T	-4.37	0.81835	D	0.76	0.91162	-0.2061	0.77514	T	0.364	0.72506	T	10	0.008982539	0.00203	T	.	.	.	0.593	0.83802	.	.	0.843224510663	0.84172	0.8173182629007808	0.81688	0.371021257662	0.38606	0.767588675022	0.77064	T	0.34377	0.86264	T	0.037008	0.56652	T	0.282856	0.87274	D	0.0339612259325702	0.02631	T	0.961904	0.90356	D	0.41766918	0.61936	0.32478216	0.58399	0.43338367	0.62974	0.32478216	0.58399	-7.755	0.59389	D	.	.	0.195	0.44358	B	.;.;.;.;.	.;.;.;.;.	4.635750	0.73751	26.0	0.98498878817887714	0.42192	0.95003	0.63085	D	AEFDGBCI	0.788991	0.71831	D	0.280073968342618	0.55139	3.678235	0.379189621332959	0.60284	4.214227	0.999999999993714	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	4.756000	0.61902	7.546000	0.60178	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.638000	0.32368	0.1473:0.8526:0.0:0.0	14.406	0.66651	172	0.93355	Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain;Glycine cleavage T-protein, C-terminal barrel domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033736	0.030303	0.047554	0.043860	0.000000	0.034483	0.030488	0.007576	0.1	3976.14	399	chr16	70156667	.	C	T	3976.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.25;DP=1210;ExcessHet=0.2348;FS=0.618;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.903;SOR=0.755	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,99,1485	8	0	2	0
chr16	70177319	70177319	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.G295A:p.G99S	.	433	1068	21	0	0	21	0.00973574	.	.	.	3660427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00229342874219	.	.	5.955e-05	0	0.0002	0	0	7.557e-05	0	0	7.68e-05	2	26028	rs776843053	0.0001	0.0005	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	8.972e-05	0.0001	2.539e-05	0	0.0006	6.661e-05	0.0009	0.0001	0.0001	0.0002	0.0001	0.0001	0.0009	7.355e-05	6.063e-05	0.0003	0.0002	0.0002	0	0	0.0003	0	0	0	4.497e-05	0.0005	0.0009	0.824	0.17584	T	0.721	0.12957	T	0.059	0.23051	B	0.025	0.20508	B	0.380192	0.04415	N	1.337120	1	0.08975	N	1.385	0.34509	L	3.12	0.08898	T	0.22	0.04694	N	0.144	0.14480	-0.9987	0.30283	T	0.036	0.15422	T	10	0.052730262	0.05352	T	0.002293	0.04397	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.1883476226636304	0.18752	.	.	.	.	.	0.012624	0.11064	T	-0.297012	0.08945	T	-0.664413	0.07972	T	0.0259131440635412	0.01394	T	0.432757	0.11777	T	0.026957333	0.01821	0.034152143	0.02431	0.026957333	0.01821	0.034152143	0.02431	-2.428	0.05307	T	.	.	0.066	0.02173	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.135741	0.03435	0.629	0.3990226419411706	0.02783	0.03713	0.08999	N	AEFDI	0.067744	0.13331	N	-1.00973544960941	0.08401	0.3937751	-1.17016678467506	0.06413	0.3086307	4.28208711897542E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.67	-3.42	0.04521	-0.273000	0.08580	-0.286000	0.10231	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.236:0.351	2.748	0.04947	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	907.43	118	chr16	70177319	.	G	A	907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=1449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.52;MQRankSum=-5.848;QD=1.92;ReadPosRankSum=-2.716;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1343:.	9	0	1	0
chr16	70177328	70177328	C	T	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.C304T:p.R102C	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00741372403503	.	0.000199681	4.677e-05	0	0.0001	0.0003	0	2.847e-05	0	0	3.84e-05	1	26028	rs533214847	5.895e-05	0.0004	5.726e-05	6.065e-05	0.0011	4.886e-05	4.505e-05	0.0009	0.0008	5.989e-05	6.724e-05	0.0001	0.0011	0	0.0005	1.35e-05	8.314e-05	0.0001	6.023e-05	0.0002	5.228e-05	6.857e-05	0.0006	3.129e-05	2.347e-05	0.0002	9.227e-05	0	0	0	0.0003	0.0004	0	0	1.481e-05	0.0010	0.0006	0.039	0.45393	D	0.107	0.45110	T	0.895	0.49247	P	0.448	0.46037	P	0.084338	0.02388	N	1.740020	1	0.08975	N	1.865	0.49290	L	3.13	0.10008	T	-1.48	0.36189	N	0.205	0.24260	-1.0177	0.24463	T	0.022	0.09330	T	10	0.09364423	0.16588	T	0.007414	0.19657	T	0.157	0.40909	.	.	0.043077524339	0.03247	0.2397432577910385	0.23888	.	.	.	.	.	0.014358	0.12236	T	-0.00945993	0.50340	T	-0.251365	0.49682	T	0.729884922504425	0.42204	D	0.765423	0.39305	T	0.08999967	0.21046	0.049599133	0.07614	0.08999967	0.21045	0.049599133	0.07614	-8.191	0.62365	D	.	.	0.127	0.32030	B	.;.;.;.;.;.	.;.;.;.;.;.	1.321434	0.17257	13.05	0.99629999369341704	0.75959	0.03734	0.09030	N	AEFDI	0.093056	0.18832	N	-0.597350344341462	0.19025	0.9924862	-0.7475599950126	0.15782	0.8317537	2.14520971887058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	1.85	0.24418	-0.236000	0.09019	0.233000	0.16214	0.324000	0.19419	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1692:0.5629:0.2679:0.0	6.173	0.19644	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1000.43	118	chr16	70177328	.	C	T	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.241;DP=1699;ExcessHet=0;FS=0.848;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.99;MQRankSum=-6.013;QD=1.97;ReadPosRankSum=-2.714;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1343:.	9	0	1	0
chr16	70185934	70185934	A	G	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon12:c.A1261G:p.N421D	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0139520277559	.	0.00199681	8.393e-06	0	0	0	0	1.503e-05	0	0	0.0042646	111	26028	rs616457	0.0008	0.0022	0.0008	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0014	0.0010	0.0014	0.0002	0.0010	0.0005	0.0007	0.0013	0.0010	0.0028	0.0062	0.0029	0.0026	0.0033	0.0025	0.0025	0.0029	0.0028	0.0023	0.0022	0.0027	0.0053	0.0002	0.0015	0.0071	0.0033	0.0052	0.0013	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000011	0.62929	N	0.063063	0.999979	0.18612	N	.	.	.	0.94	0.43672	T	1.86	0.00489	N	0.307	0.34659	-0.9952	0.31245	T	0.031	0.13504	T	10	0.016723007	0.00354	T	0.013952	0.33731	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.13490445504807977	0.13414	.	.	.	.	.	0.002721	0.02115	T	-0.314132	0.07388	T	-0.689006	0.06447	T	0.0523021928966045	0.05899	T	0.176982	0.01724	T	0.05912723	0.11979	0.07924149	0.17822	0.05912723	0.11979	0.07924149	0.17821	6.215	0.00001	T	.	.	0.032	0.00014	B	.;.;.;.;.	.;.;.;.;.	1.936036	0.24588	16.45	0.54744172782596479	0.05199	0.04049	0.09494	N	AEFI	0.026940	0.02113	N	-0.79755993921101	0.13373	0.6583592	-0.533814743124815	0.21237	1.147915	5.14063846359364E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	5.193000	0.64958	8.475000	0.77283	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.1071:0.0:0.8929:0.0	8.832	0.34252	159	0.93837	C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	186.43	39	chr16	70185934	.	A	G	186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=681;ExcessHet=0;FS=24.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.48;MQRankSum=-5.557;QD=2.45;ReadPosRankSum=-4.544;SOR=3.11	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr16	70186513	70186513	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon13:c.G1334A:p.G445E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0143982271018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.003	0.08700	B	0.001136	0.40136	N	0.210248	0.776536	0.34214	D	.	.	.	2.29	0.17113	T	-0.85	0.23156	N	0.073	0.09207	-1.0297	0.20551	T	0.020	0.08266	T	10	0.111899555	0.20971	T	0.014398	0.34491	T	0.017	0.02790	0.362	0.36711	0.043077524339	0.03247	0.2362492020718356	0.23539	.	.	.	.	.	0.013268	0.11507	T	-0.284253	0.10222	T	-0.646086	0.09231	T	0.980816662311554	0.73564	D	0.555444	0.19245	T	0.14237525	0.32767	0.13539384	0.32419	0.14237525	0.32767	0.13539384	0.32418	-3.304	0.13789	T	.	.	0.079	0.13268	B	.;.;.;.;.	.;.;.;.;.	2.153244	0.27425	17.46	0.98049818796880206	0.37859	0.49909	0.28541	N	AEFI	0.087535	0.17749	N	-0.890840533252806	0.11059	0.5317142	-0.862251814470311	0.12993	0.6715797	1.28784963706343E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	4.34	0.68	0.17146	0.298000	0.18874	1.718000	0.28241	-0.131000	0.13161	0.135000	0.23427	0.932000	0.28569	0.022000	0.11911	0.429:0.0:0.571:0.0	5.458	0.15896	159	0.93837	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	203.54	24	chr16	70186513	.	G	A	203.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.907;DP=117;ExcessHet=0;FS=8.82;InbreedingCoeff=-0.0615;MLEAC=1;MLEAF=0.05;MQ=39.48;MQRankSum=0.357;QD=11.97;ReadPosRankSum=0.047;SOR=2.815	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,348	9	0	1	0
chr16	70860770	70860770	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon70:c.G11909A:p.R3970Q	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0547482160663	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422598365	1.641e-05	1.615e-05	2.177e-05	1.163e-05	2.425e-05	8.05e-06	5.1e-06	1.107e-05	7.48e-06	0	0	0	0	0	0	2.425e-05	0	1.994e-05	0	1.336e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	.	.	.	.	.	.	.	.	.	0.285026	0.14874	U	0.386816	0.927093	0.27153	N	2.665	0.77964	M	5.6	0.00825	T	-1.28	0.32185	N	0.087	0.06454	-0.6250	0.63781	T	0.006	0.02093	T	10	0.13142127	0.25012	T	0.054748	0.65973	D	0.124	0.34239	0.354	0.35408	0.184867976434	0.18130	0.105312719122979	0.10461	.	.	0.273415893316	0.06591	T	0.053832	0.29555	T	-0.234906	0.16006	T	-0.575202	0.14976	T	0.711771786212921	0.41287	D	.	.	.	0.05666584	0.11178	0.10673401	0.25683	0.05666584	0.11177	0.10673401	0.25683	-3.722	0.19643	T	.	.	0.074	0.04975	B	.	.	1.476023	0.19009	14.04	0.97444048134579508	0.33992	0.28593	0.23596	N	AEFBI	0.077174	0.15543	N	-0.299588206416974	0.29165	1.614913	-0.376171106814629	0.25709	1.415504	0.999834147196504	0.43792	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	2.7	0.31007	0.305000	0.19006	0.417000	0.18177	-0.173000	0.11020	0.008000	0.17931	0.879000	0.27682	0.058000	0.15825	0.0:0.6369:0.2317:0.1315	8.670	0.33305	546	0.72524	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	278.51	15	chr16	70860770	.	C	T	278.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=95;ExcessHet=0;FS=0;InbreedingCoeff=-0.0592;MLEAC=1;MLEAF=0.05;MQ=38.9;MQRankSum=-0.253;QD=27.85;ReadPosRankSum=-1.834;SOR=2.303	GT:AD:DP:GQ:PL	0/0:7,0:7:18:0,18,270	9	0	1	0
chr16	70941672	70941672	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6817G:p.M2273V	Ciliary dyskinesia, primary, 5, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0159	.	0.0082	0.0893	0.0042	0	0	0.0005	0.0070	7.129e-05	0.0020363	53	26028	rs79215045	0.0010	0.0021	0.0011	0.0009	0.0370	0.0009	0.0009	0.0352	0.0344	0.0370	0.0013	7.881e-05	0	0	0.0021	0.0002	0.0014	7.357e-05	0.0023	0.0092	0.0022	0.0023	0.0086	0.0021	0.0020	0.0078	0.0075	0.0086	0	0.0005	0	0	0	0	5.882e-05	0.0005	0.0002	0.199	0.20456	T	.	.	.	.	.	.	.	.	.	0.260217	0.15330	U	0.467678	0.976955	0.25342	N	2.005	0.54552	M	5.69	0.00751	T	-1.38	0.34198	N	0.63	0.64393	-0.0209	0.81821	T	0.001	0.00287	T	10	0.007629961	0.00173	T	.	.	.	0.161	0.41658	.	.	0.384419519794	0.38055	0.10730925747050389	0.10659	.	.	0.470210492611	0.34709	T	0.062021	0.31806	T	-0.476588	0.00775	T	-0.414868	0.31666	T	0.0524779697529852	0.05930	T	.	.	.	0.1365259	0.31646	0.1991875	0.43788	0.1365259	0.31645	0.1991875	0.43787	-3.302	0.13763	T	.	.	0.112	0.22024	B	.	.	2.619004	0.34034	19.51	0.98937783091767417	0.48883	0.86701	0.46038	D	AEFDBI	0.518237	0.54402	D	0.287658427671525	0.55521	3.71629	0.341819601110523	0.58017	3.969894	0.999999948245124	0.74766	0.495158	0.18159	0	0.563428	0.19063	0	0.535252	0.11790	0	0.542086	0.14980	0	.	.	5.32	5.32	0.75377	3.634000	0.54043	4.193000	0.42417	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.1368:0.0:0.0:0.8632	11.270	0.48366	552	0.72024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.015152	0.010870	0.011696	0.000000	0.008621	0.000000	0.000000	0.05	129.43	33	chr16	70941672	.	T	C	129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.925;DP=455;ExcessHet=0;FS=0.824;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.91;MQRankSum=-5.205;QD=0.86;ReadPosRankSum=0.848;SOR=0.59	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	9	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	239.35	33	chr16	70941764	.	T	C	239.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.18;DP=722;ExcessHet=0;FS=9.989;InbreedingCoeff=-0.0981;MLEAC=1;MLEAF=0.056;MQ=49.77;MQRankSum=-6.528;QD=2.57;ReadPosRankSum=-3.488;SOR=2.017	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1278	8	0	1	1
chr16	71230632	71230632	-	C	exonic	HYDIN	.	frameshift insertion	HYDIN:NM_001198542:exon1:c.55dupG:p.V19Gfs*3	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	901.39	46	chr16	71230632	.	A	AC	901.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.336;DP=425;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.028;SOR=0.678	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1112	9	0	1	0
chr16	71475808	71475808	A	G	exonic	ZNF19	.	nonsynonymous SNV	ZNF19:NM_006961:exon6:c.T739C:p.C247R	.	.	.	.	.	.	.	.	.	.	.	4106240	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.659	0.0296909734841	7.7e-05	.	9.889e-05	0	0	0	0	2.998e-05	0	0.0006	7.76e-05	12	154602	rs369556832	4.518e-05	4.517e-05	2.725e-05	6.33e-05	0.0005	3.544e-05	3.324e-05	0.0004	0.0004	0	0	0	0	0	0.0003	1.08e-05	8.286e-05	0.0005	2.633e-05	2.628e-05	1.287e-05	4.043e-05	0.0004	8.15e-06	5.15e-06	7.321e-05	3.04e-05	0	0	0	0	0	0	0	2.941e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.001650	0.38382	N	0.000000	0.999999	0.81001	D	3.675	0.94400	H	-1.96	0.85091	D	-11.68	0.99515	D	0.7	0.79310	0.804	0.94458	D	0.818	0.93877	D	10	0.94840133	0.94169	D	0.029691	0.52149	D	0.659	0.87234	.	.	0.95093717928	0.95041	0.2611136999125787	0.26024	0.323920903238	0.34550	0.77602648735	0.78328	T	0.572556	0.85871	D	0.107391	0.65081	D	0.265914	0.86369	D	0.718610167503357	0.41629	D	0.738626	0.38756	T	0.96781063	0.98053	0.96569145	0.99265	0.96781063	0.98053	0.96569145	0.99266	-11.602	0.82858	D	.	.	0.984	0.91928	P	.;.;.;.	.;.;.;.	3.772198	0.54193	23.5	0.98263434054745036	0.39685	0.99274	0.93794	D	AEFGBI	0.918205	0.88692	D	0.622424644777063	0.74596	6.159414	0.373092007386679	0.59912	4.173156	0.999999999381263	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	3.4	3.4	0.38031	9.050000	0.93297	7.400000	0.58569	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.054000	0.15518	1.0:0.0:0.0:0.0	10.470	0.43819	264	0.89640	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1735.43	92	chr16	71475808	.	A	G	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.097;DP=1106;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.129;SOR=0.697	GT:AD:DP:GQ:PL	0/0:120,0:120:99:0,120,1800	9	0	1	0
chr16	71537183	71537183	G	A	exonic	CHST4	.	nonsynonymous SNV	CHST4:NM_001166395:exon2:c.G506A:p.R169H,CHST4:NM_005769:exon2:c.G506A:p.R169H	.	8	1509	5	0	0	5	0.00165399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	.	.	0.00479233	0.0026	0	8.64e-05	0.0002	0	1.498e-05	0.0011	0.0191	0.0023221	359	154602	rs375170120	0.0013	0.0013	0.0007	0.0018	0.0205	0.0012	0.0012	0.0197	0.0194	2.987e-05	4.472e-05	0	0.0001	1.872e-05	0.0010	4.496e-06	0.0011	0.0205	0.0006	0.0006	0.0003	0.0010	0.0187	0.0005	0.0005	0.0156	0.0144	2.407e-05	0	6.535e-05	0	0.0002	9.432e-05	0	2.941e-05	0	0.0187	0.273	0.15876	T	0.189	0.28575	T	0.637	0.40341	P	0.288	0.40614	B	0.595278	0.11010	N	0.833312	0.985607	0.24695	N	2.535	0.73915	M	-1.71	0.83157	D	-2.25	0.50337	N	0.054	0.02559	-0.5287	0.67590	T	0.490	0.80609	T	10	0.008623272	0.00195	T	.	.	.	0.418	0.72780	0.661	0.79894	0.734209617351	0.73183	0.3033352371329444	0.30246	0.290885369284	0.31494	0.201529502869	0.00503	T	0.690039	0.90979	D	-0.458239	0.01008	T	-0.41541	0.31603	T	0.045728550182188	0.04735	T	0.851115	0.53499	D	0.057001706	0.11288	0.094693474	0.22425	0.057001706	0.11288	0.094693474	0.22425	-5.168	0.38615	T	.	.	0.069	0.03231	B	.;.	.;.	1.917804	0.24354	16.37	0.94958676131062059	0.25873	0.14601	0.18489	N	AEFDGBI	0.165455	0.29195	N	-0.66330658924407	0.17074	0.8754837	-0.667854903365067	0.17767	0.946169	0.00989268888791771	0.11931	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.562822	0.20929	0	.	.	5.8	1.14	0.19817	0.233000	0.17689	0.133000	0.15072	-0.767000	0.03477	0.007000	0.17678	0.000000	0.08366	0.987000	0.62547	0.3838:0.0:0.6162:0.0	10.552	0.44286	222	0.91398	Sulfotransferase domain;Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.000000	0.011696	0.000000	0.000000	0.003049	0.011364	0.05	3422.43	34	chr16	71537183	.	G	A	3422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.87;DP=597;ExcessHet=0;FS=0.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=2.09;SOR=0.76	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1102	9	0	1	0
chr16	71850417	71850417	G	A	exonic	ATXN1L	.	nonsynonymous SNV	ATXN1L:NM_001137675:exon3:c.G677A:p.R226Q	.	424	1080	17	1	0	19	0.0087196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	.	.	0.00359425	0.0086	0.0014	0.0123	0	0	0.0006	0.0105	0.0193	0.0013066	202	154602	rs147505763	0.0014	0.0014	0.0008	0.0020	0.0191	0.0014	0.0013	0.0183	0.0180	3.165e-05	0.0003	7.942e-05	0	0.0001	0.0035	0.0003	0.0014	0.0191	0.0007	0.0007	0.0004	0.0011	0.0176	0.0006	0.0006	0.0146	0.0135	4.813e-05	0	6.538e-05	0	0	9.423e-05	0	0.0003	0.0005	0.0176	0.238	0.17821	T	0.611	0.07666	T	1.0	0.90584	D	0.982	0.75477	D	.	.	.	.	0.914671	0.27430	N	1.445	0.36358	L	1.42	0.33189	T	0.88	0.01664	N	0.316	0.35620	-0.9982	0.30423	T	0.111	0.39888	T	9	0.0040242374	0.00078	T	.	.	.	0.231	0.53208	.	.	0.27132560031	0.26736	0.394877748054683	0.39402	.	.	0.472686946392	0.35050	T	7.7E-4	0.00369	T	-0.341534	0.05281	T	-0.249087	0.49907	T	0.0258004732453649	0.01379	T	0.825917	0.48908	T	0.09584715	0.22566	0.13532075	0.32402	0.09584715	0.22565	0.13532075	0.32401	-2.471	0.05586	T	.	.	0.102	0.18164	B	.	.	4.016529	0.59292	24.1	0.99779433441165644	0.86606	0.91905	0.54517	D	AEFBCI	0.560476	0.56887	D	0.452330450445879	0.64335	4.685708	0.509008187207464	0.68595	5.241779	0.999929681210294	0.46280	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	6.573000	0.73899	11.772000	0.95887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.217	0.93768	83	0.96533	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.006024	0.000000	0.000000	0.026316	0.006098	0.012195	0.05	3046.43	35	chr16	71850417	.	G	A	3046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=509;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=0.815;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1185	9	0	1	0
chr16	71951599	71951599	C	G	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon19:c.G3155C:p.G1052A	.	427	1090	4	1	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0025	0	0.0024	0	0	0.0003	0	0.0063	0.0003946	61	154602	rs533212808	0.0012	0.0011	0.0009	0.0014	0.0066	0.0011	0.0011	0.0061	0.0059	0.0003	0.0002	0	2.798e-05	0.0002	0.0005	0.0009	0.0011	0.0066	0.0006	0.0006	0.0005	0.0008	0.0058	0.0005	0.0005	0.0041	0.0036	7.217e-05	0	0.0006	0	0	0	0	0.0008	0.0005	0.0058	.	.	.	0.033	0.53072	D	0.017	0.17573	B	0.024	0.20255	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.08366	.	.	.	.	.	.	.	0.0049215555	0.00105	T	.	.	.	.	.	.	.	0.117506650769	0.11410	0.15455848920514773	0.15376	.	.	0.305610507727	0.11244	T	0.035991	0.23931	T	-0.376769	0.03264	T	-0.31206	0.43437	T	.	.	.	0.523348	0.17107	T	0.112612344	0.26602	0.37521762	0.62671	0.112612344	0.26602	0.37521762	0.62670	-3.642	0.18466	T	.	.	0.097	0.15832	B	.	.	1.997066	0.25376	16.74	0.69910934313579332	0.09124	0.16621	0.19473	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.650624211729595	0.22159	0.080785	0.02172	0	0.060609	0.00678	0	0.056003	0.00319	0	0.10565	0.03146	0	0.881367	0.54877	4.44	4.44	0.53164	2.975000	0.48972	2.965000	0.35773	0.587000	0.30956	0.119000	0.23158	0.074000	0.22270	0.419000	0.27206	0.0:1.0:0.0:0.0	12.919	0.57614	78	0.96748	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001211	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	560.43	35	chr16	71951599	.	C	G	560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=363;ExcessHet=0;FS=1.025;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.5;ReadPosRankSum=-0.247;SOR=0.842	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1010	9	0	1	0
chr16	72056631	72056631	G	A	exonic	HP	.	nonsynonymous SNV	HP:NM_001318138:exon3:c.G190A:p.G64R,HP:NM_005143:exon3:c.G190A:p.G64R	.	.	.	.	.	.	.	.	0.9976	0.942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.805e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	.	.	.	.	0.857946	0.81001	D	2.955	0.85029	M	0.81	0.48460	T	-0.58	0.83899	N	0.511	0.63204	-0.6699	0.61833	T	0.283	0.65448	T	9	0.66874856	0.70584	D	0.143234	0.82557	D	0.312	0.63375	0.551	0.66716	0.624938293356	0.62188	0.2705249212620448	0.26965	0.288080729046	0.31214	0.703854739666	0.67702	T	0.365288	0.73073	T	0.114526	0.65818	D	-0.0732684	0.65392	T	0.52836860971527	0.33674	D	0.949005	0.80370	D	0.17544976	0.38404	0.20636405	0.44846	0.17544976	0.38404	0.20636405	0.44845	-8.34	0.63364	D	.	.	0.679	0.72087	P	.;.;.;.	.;.;.;.	4.312529	0.65933	24.9	0.77395238562230129	0.11858	0.89573	0.50124	D	AEFBI	0.966484	0.98891	D	0.506739950870263	0.67486	5.088251	0.420222802635425	0.62826	4.504763	0.999481848907043	0.39952	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	4.84	0.62125	4.904000	0.62975	11.370000	0.92605	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	13.650	0.61780	174	0.93268	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;.;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	78.84	10	chr16	72056631	.	G	A	78.84	.	AC=1;AF=0.25;AN=4;BaseQRankSum=0.992;DP=82;ExcessHet=0;FS=0;InbreedingCoeff=-0.2248;MLEAC=2;MLEAF=0.5;MQ=40;MQRankSum=0;QD=7.88;ReadPosRankSum=2.1;SOR=0.412	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:7,0:7:0:.:.:0,0,76:.	1	0	1	8
chr16	72101588	72101588	C	T	exonic	DHX38	.	nonsynonymous SNV	DHX38:NM_014003:exon11:c.C1475T:p.T492M	.	426	1091	5	0	0	5	0.00228624	.	.	.	703801	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0043	0.00199681	0.0041	0.0018	0.0123	0	0	0.0079	0	0.0006	0.0016817	260	154602	rs36064538	0.0051	0.0049	0.0052	0.0050	0.0069	0.0050	0.0049	0.0055	0.0053	0.0012	0.0062	0.0222	0	0.0003	0.0069	0.0055	0.0055	0.0004	0.0037	0.0037	0.0040	0.0035	0.0063	0.0035	0.0034	0.0053	0.0049	0.0010	0	0.0063	0.0210	0	0	0.0034	0.0050	0.0066	0	0.101	0.30375	T	0.099	0.38891	T	0.939	0.52645	P	0.432	0.45448	B	0.000025	0.55875	D	0.123692	0.972126	0.81001	D	1.15	0.29295	L	0.7	0.51474	T	-1.22	0.30964	N	0.113	0.10056	-0.9634	0.38527	T	0.096	0.36081	T	10	0.008020043	0.00182	T	.	.	.	0.077	0.22490	.	.	0.67851396091	0.67578	0.40572891008073597	0.40488	0.983265258305	0.73816	0.552991390228	0.46280	T	0.080021	0.36266	T	-0.44033	0.01288	T	-0.402668	0.33073	T	0.0155193529123096	0.00352	T	0.952405	0.81824	D	0.073301844	0.16371	0.07847335	0.17579	0.073301844	0.16371	0.07847335	0.17578	-8.732	0.65955	D	0.16751472676943546	0.20893	0.082	0.08851	B	.	.	2.904567	0.38512	20.8	0.99771067097371058	0.85918	0.89709	0.50349	D	AEFDBCI	0.536296	0.55457	D	0.272447451035953	0.54755	3.640533	0.286340007784796	0.54740	3.638229	0.999999506482787	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	4.633000	0.61016	5.840000	0.50240	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:1.0:0.0:0.0	18.460	0.90682	159	0.93837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003863	0.015625	0.003021	0.002994	0.050000	0.000000	0.003401	0.000000	0.05	519.43	35	chr16	72101588	.	C	T	519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.263;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=1.05;SOR=0.77	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr16	72136729	72136729	C	T	exonic	PMFBP1	.	nonsynonymous SNV	PMFBP1:NM_031293:exon8:c.G1009A:p.E337K,PMFBP1:NM_001160213:exon9:c.G574A:p.E192K	.	423	1091	8	0	0	8	0.00365297	.	.	.	2413409	Spermatogenic_failure_31	MONDO:MONDO:0020852,MedGen:C4748234,OMIM:618112	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.00779448518587	0.0002	.	0.0003	0	0	0	0	0.0002	0.0022	0.0013	0.0002264	35	154602	rs149368238	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0010	0.0009	0	6.708e-05	0	0	0	0.0014	0.0001	0.0001	0.0012	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0	0.0012	0.384	0.11696	T	0.075	0.53788	T	0.996	0.68779	D	0.987	0.77487	D	0.199400	0.16639	N	0.440251	0.796847	0.29161	N	2.14	0.59869	M	2.59	0.13434	T	-1.3	0.34198	N	0.517	0.64308	-1.0908	0.05400	T	0.061	0.25599	T	10	0.042488426	0.03002	T	0.007794	0.20668	T	0.127	0.34888	.	.	0.0666544352282	0.05500	0.20867051596458122	0.20783	0.199896718356	0.22393	0.611806571484	0.54572	T	0.057749	0.30653	T	-0.420645	0.01694	T	-0.422555	0.30783	T	0.0906359778336558	0.11293	T	0.90141	0.65732	D	0.142079	0.32711	0.1308686	0.31437	0.14184575	0.32667	0.12737517	0.30662	-4.076	0.24935	T	.	.	0.179	0.46562	B	.;.;.	.;.;.	2.918866	0.38741	20.8	0.99910072480018419	0.97949	0.70512	0.34621	D	AEFDGBI	0.174237	0.30135	N	0.155899743919026	0.49090	3.113473	0.0888903474008544	0.43988	2.68936	0.0546093003556453	0.14982	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.85	3.87	0.43823	2.385000	0.44025	5.803000	0.49951	0.599000	0.40250	0.927000	0.32177	1.000000	0.68203	0.496000	0.28927	0.0:0.8268:0.1732:0.0	12.148	0.53340	135	0.94622	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	2167.43	33	chr16	72136729	.	C	T	2167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.006;DP=486;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.818;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1230	9	0	1	0
chr16	72788513	72788513	G	C	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon9:c.C7021G:p.P2341A,ZFHX3:NM_006885:exon10:c.C9763G:p.P3255A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0068280426948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.40832	T	0.382	0.16376	T	0.0	0.02946	B	0.001	0.04355	B	0.103879	0.19728	N	0.420336	0.778757	0.34240	D	1.3	0.32576	L	-0.7	0.72785	T	-0.81	0.30762	N	0.232	0.30800	-0.8933	0.48641	T	0.155	0.48636	T	10	0.123785615	0.23502	T	0.006828	0.18065	T	0.091	0.26358	0.182	0.09004	0.0934897674506	0.08844	0.06639924603035471	0.06577	0.0904232306126	0.10200	0.470420747995	0.34737	T	0.076815	0.35509	T	-0.0920932	0.37731	T	-0.370062	0.36882	T	0.146348878741264	0.16809	T	0.513049	0.16451	T	0.020328274	0.00587	0.035524882	0.02821	0.020328274	0.00587	0.035524882	0.02820	-3.468	0.15987	T	.	.	0.052	0.00211	B	.;.;.	.;.;.	2.660656	0.34663	19.69	0.80084784715716084	0.13037	0.87755	0.47403	D	AEFDBCI	.	.	.	-0.497194603315797	0.22173	1.182062	-0.368493035987441	0.25941	1.429812	0.999987808330339	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.673471	0.61138	0	0.662433	0.64102	0	.	.	5.79	1.13	0.19758	4.616000	0.60900	3.587000	0.39177	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.1963:0.115:0.6887:0.0	9.274	0.36853	190	0.92594	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2561.43	41	chr16	72788513	.	G	C	2561.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.183;DP=576;ExcessHet=0;FS=1.031;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=0.344;SOR=0.623	GT:AD:DP:GQ:PL	0/1:119,103:224:99:2573,0,3274	9	0	1	0
chr16	72793464	72793464	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon8:c.G6476A:p.R2159H,ZFHX3:NM_006885:exon9:c.G9218A:p.R3073H	.	424	1096	2	0	0	2	0.000911577	.	.	.	3627856	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.565	0.042522205055	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs779790829	8.893e-06	8.893e-06	1.225e-05	5.5e-06	9.892e-06	4.96e-06	3.82e-06	5.31e-06	3.88e-06	0	0	0	0	3.745e-05	0	9.892e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.001	0.78490	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.000097	0.51296	D	0.000000	1	0.81001	D	0.695	0.17993	N	-0.94	0.75325	T	-3.83	0.75537	D	0.715	0.71765	0.073	0.83682	D	0.562	0.84082	D	10	0.6825511	0.71367	D	0.042522	0.60510	D	0.565	0.82232	0.428	0.47515	0.457822240193	0.45404	0.5760768955835824	0.57536	0.116968664374	0.13187	0.889744877815	0.95228	D	0.367065	0.73220	T	0.205719	0.74427	D	0.0732113	0.75125	D	0.604799289794655	0.36591	D	0.989657	0.96919	D	0.47342387	0.65500	0.41763195	0.65811	0.47342387	0.65501	0.41763195	0.65811	-10.014	0.73996	D	.	.	0.877	0.81295	P	.;.;.	.;.;.	5.263496	0.88378	29.6	0.98090219219167563	0.38181	0.95951	0.66863	D	AEFDBCI	0.892122	0.82876	D	0.832093380088277	0.88066	9.441014	0.839384483896911	0.92382	11.394	0.999999999999848	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	7.905000	0.86479	7.738000	0.67953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.020	0.97491	184	0.92813	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4364.12	35	chr16	72793464	.	C	T	4364.12	.	AC=2;AF=0.1;AN=20;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.62;SOR=0.783	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1148	9	1	0	0
chr16	72950840	72950840	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_001164766:exon2:c.G103A:p.V35I,ZFHX3:NM_006885:exon3:c.G2845A:p.V949I	.	409	1110	3	0	0	3	0.00134953	.	.	.	3202075	ZFHX3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.186	.	0.0050	0.00658946	0.0018	0.0148	0.0019	0	0	0.0005	0.0033	0.0002	0.0019146	296	154602	rs113497421	0.0010	0.0010	0.0010	0.0010	0.0195	0.0009	0.0009	0.0182	0.0177	0.0195	0.0020	0.0020	2.519e-05	1.875e-05	0.0071	0.0004	0.0027	0.0002	0.0046	0.0046	0.0048	0.0045	0.0152	0.0043	0.0042	0.0142	0.0138	0.0152	0	0.0022	0.0014	0	9.414e-05	0	0.0003	0.0047	0	0.17	0.23541	T	0.171	0.60972	T	0.999	0.77913	D	0.965	0.71173	D	0.000397	0.44960	D	0.000000	1	0.81001	D	2.42	0.70002	M	0.6	0.53731	T	-0.8	0.22078	N	0.574	0.61764	-0.7721	0.56742	T	0.126	0.43070	T	10	0.014494151	0.00305	T	.	.	.	0.186	0.46104	.	.	0.24933006939	0.24537	0.183498676176686	0.18268	0.436305948269	0.43728	0.756401062012	0.75394	T	0.117048	0.43684	T	-0.400998	0.02281	T	-0.335808	0.40819	T	0.0217651673904808	0.00882	T	0.950905	0.81262	D	0.17299196	0.38021	0.10635385	0.25583	0.19171603	0.40811	0.118381396	0.28576	-3.456	0.32260	T	.	.	0.182	0.39579	B	.;.;.	.;.;.	5.091243	0.85017	28.5	0.99693032702473106	0.80044	0.98327	0.81666	D	AEFDBI	0.879431	0.80536	D	0.691536033292867	0.79079	7.002387	0.690029677203641	0.81620	7.569783	0.999999999999995	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	7.854000	0.85267	6.030000	0.52909	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.487	0.90780	681	0.59854	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015106	0.020202	0.028533	0.014620	0.000000	0.017241	0.000000	0.003788	0.05	1547.43	33	chr16	72950840	.	C	T	1547.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.61;DP=487;ExcessHet=0;FS=6.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-1;SOR=1.262	GT:AD:DP:GQ:PL	0/1:85,61:146:99:1559,0,2049	9	0	1	0
chr16	74644683	74644683	T	C	exonic	RFWD3	.	nonsynonymous SNV	RFWD3:NM_001370539:exon4:c.A11G:p.E4G,RFWD3:NM_001370534:exon5:c.A845G:p.E282G,RFWD3:NM_001370536:exon5:c.A845G:p.E282G,RFWD3:NM_001370543:exon5:c.A11G:p.E4G,RFWD3:NM_018124:exon5:c.A845G:p.E282G,RFWD3:NM_001370535:exon6:c.A845G:p.E282G,RFWD3:NM_001370537:exon6:c.A11G:p.E4G,RFWD3:NM_001370540:exon6:c.A11G:p.E4G,RFWD3:NM_001370542:exon6:c.A11G:p.E4G	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0148805774987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.208	0.26883	T	0.109	0.26142	B	0.149	0.34106	B	0.000079	0.52346	D	0.168985	0.998793	0.45457	D	1.845	0.48678	L	-0.32	0.68181	T	-2.94	0.61435	D	0.264	0.30687	-0.5541	0.66630	T	0.313	0.68344	T	10	0.21752593	0.38367	T	0.014881	0.35280	T	0.114	0.32008	0.319	0.29741	0.384586903782	0.38071	0.2822857014275027	0.28141	.	.	0.370842546225	0.20952	T	0.13717	0.46996	T	-0.0431594	0.45477	T	-0.299772	0.44748	T	0.776474297046661	0.44832	D	0.755524	0.37862	T	0.13273162	0.30897	0.19373018	0.42958	0.13273162	0.30896	0.19373018	0.42957	-6.181	0.47769	T	.	.	0.122	0.25689	B	.;.;.	.;.;.	3.574861	0.50364	22.9	0.98539682471687984	0.42707	0.94065	0.60006	D	AEFBI	0.288368	0.40027	N	0.114938902094524	0.47161	2.945575	0.25597191445372	0.52990	3.470299	0.999995122487755	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	3.550000	0.53438	7.824000	0.69857	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.440000	0.27671	0.0:0.0:0.0:1.0	16.369	0.83184	523	0.74147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1380.43	37	chr16	74644683	.	T	C	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.44;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.84;ReadPosRankSum=1.53;SOR=0.699	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1142	9	0	1	0
chr16	74740049	74740049	G	A	exonic	FA2H	.	nonsynonymous SNV	FA2H:NM_024306:exon2:c.C337T:p.R113W	Spastic paraplegia 35, autosomal recessive, Autosomal recessive	1	1503	18	0	0	18	0.00595238	.	.	.	375399	Hereditary_spastic_paraplegia_35|Hereditary_spastic_paraplegia|Spastic_paraplegia|not_specified|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0012866,MedGen:C3496228,OMIM:612319,Orphanet:171629|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	0.144536642185	0.0008	.	0.0007	0.0002	0.0008	0.0001	0.0006	0.0009	0	0	0.0005821	90	154602	rs141276237	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0004	0.0020	0.0017	5.974e-05	0.0009	0.0053	0	0.0006	0.0031	0.0003	0.0008	9.275e-05	0.0005	0.0005	0.0005	0.0006	0.0014	0.0004	0.0004	0.0010	0.0008	4.829e-05	0	0.0014	0.0043	0	0.0009	0	0.0004	0.0014	0	0.045	0.40832	D	0.077	0.42436	T	0.996	0.68779	D	0.528	0.48482	P	0.148510	0.18047	N	0.580298	0.999962	0.26515	N	2.175	0.60977	M	-2.12	0.86283	D	-1.72	0.40850	N	0.235	0.26475	-0.3227	0.74346	T	0.502	0.81188	D	10	0.0102182925	0.00228	T	0.144537	0.82679	D	0.274	0.59007	.	.	0.657747481773	0.65488	0.5472668999718603	0.54652	0.661139551435	0.58907	0.217487826943	0.01170	T	0.342776	0.71150	T	-0.291061	0.09529	T	-0.266279	0.48196	T	0.0229355689889746	0.01015	T	0.714229	0.34112	T	0.036097545	0.04375	0.043120515	0.05293	0.033653986	0.03627	0.04043278	0.04369	-6.501	0.50294	T	0.4198720639045686	0.50881	0.084	0.26514	B	.;.	.;.	3.389107	0.46917	22.4	0.99818023649359167	0.90150	0.14845	0.18615	N	AEFGBCI	0.250638	0.37065	N	-0.357750809218298	0.26990	1.477261	-0.452573229885999	0.23476	1.280455	0.999914401855472	0.45857	0.646311	0.45356	0	0.659912	0.62753	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.74	1.07	0.19399	0.850000	0.27389	1.171000	0.24625	-1.792000	0.00636	0.719000	0.28811	0.861000	0.27489	0.010000	0.09038	0.0:0.0:0.5171:0.4829	10.559	0.44320	851	0.35303	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1698.43	33	chr16	74740049	.	G	A	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=435;ExcessHet=0;FS=3.268;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.07;SOR=0.547	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1210	9	0	1	0
chr16	74888296	74888296	C	T	exonic	WDR59	.	nonsynonymous SNV	WDR59:NM_030581:exon22:c.G2219A:p.R740Q	.	433	1073	16	0	0	16	0.00740056	.	.	.	3356294	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.153	0.0127899907899	.	.	0.0002	0	0	0	0	6.338e-05	0	0.0011	0.0001488	23	154602	rs767371477	0.0001	0.0001	8.306e-05	0.0001	0.0021	0.0001	9.636e-05	0.0012	0.0010	2.989e-05	4.483e-05	7.653e-05	2.52e-05	0	0.0021	2.968e-05	0.0002	0.0013	3.947e-05	3.941e-05	3.858e-05	4.04e-05	0.0004	1.717e-05	1.13e-05	7.307e-05	3.035e-05	2.416e-05	0	0.0002	0	0	0	0	0	0	0.0004	0.399	0.10517	T	0.307	0.19908	T	0.355	0.33731	B	0.04	0.23831	B	0.000048	0.53742	D	0.164396	0.653184	0.32983	D	0.55	0.14455	N	-0.27	0.67367	T	-0.3	0.11913	N	0.301	0.34012	-0.8564	0.51520	T	0.115	0.40897	T	10	0.059230745	0.07087	T	0.01279	0.31668	T	0.153	0.40148	0.446	0.50466	0.845841685244	0.84436	0.1801451814062501	0.17933	0.277714302486	0.30255	0.478825569153	0.35895	T	0.022535	0.17359	T	-0.372965	0.03447	T	-0.349048	0.39314	T	0.080439621564902	0.10044	T	0.957904	0.84151	D	0.038109887	0.05015	0.034834333	0.02622	0.038109887	0.05015	0.034834333	0.02621	-3.125	0.11586	T	.	.	0.091	0.12985	B	.	.	3.968162	0.58246	24.0	0.99493450116431026	0.67573	0.92662	0.56241	D	AEFDBI	0.404737	0.47790	N	0.0823313918181039	0.45639	2.817132	0.279454450133582	0.54340	3.599407	0.999999999233427	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.474000	0.59936	6.003000	0.52520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.741000	0.35472	0.0:0.8146:0.0:0.1854	7.915	0.28977	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	668.43	38	chr16	74888296	.	C	T	668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.318;DP=386;ExcessHet=0;FS=4.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.815;SOR=1.382	GT:AD:DP:GQ:PL	0/1:19,27:46:99:680,0,417	9	0	1	0
chr16	75224755	75224755	G	C	exonic	CTRB1	.	nonsynonymous SNV	CTRB1:NM_001329190:exon6:c.G547C:p.G183R	.	410	1096	16	0	0	16	0.00724638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.000599042	0.0008	0	0.0004	0	0	0.0009	0.0033	0.0015	0.0006662	103	154602	rs143327059	0.0006	0.0006	0.0005	0.0007	0.0168	0.0006	0.0005	0.0141	0.0131	5.975e-05	0.0009	0.0002	0	0	0.0168	0.0005	0.0011	0.0016	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0014	0.0012	0	0	0.0020	0	0	0	0.0102	0.0006	0.0028	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1070.43	34	chr16	75224755	.	G	C	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=380;ExcessHet=0;FS=1.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=0.347;SOR=1.039	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	9	0	1	0
chr16	75267964	75267964	T	G	exonic	BCAR1	.	nonsynonymous SNV	BCAR1:NM_001170715:exon1:c.A17C:p.E6A	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00430301763862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.672	0.06265	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.9	0.23486	T	0.33	0.03889	N	0.074	0.04790	-0.9804	0.34909	T	0.031	0.13242	T	9	0.07294625	0.10956	T	0.004303	0.10435	T	0.009	0.00846	0.197	0.10975	0.289831133145	0.28582	.	.	.	.	.	.	.	.	.	.	-0.360984	0.04074	T	-0.756305	0.03246	T	0.0577303826341691	0.06807	T	0.412159	0.10706	T	.	.	.	.	.	.	.	.	-2.023	0.03269	T	.	.	0.083	0.09191	B	.	.	0.300655	0.06766	3.279	0.89833504317214896	0.19141	0.00209	0.01192	N	AEFDGBHCI	0.033505	0.03990	N	-1.17287162405034	0.05414	0.2467376	-1.238526058945	0.05303	0.252351	1.0	0.98316	0.514905	0.20481	0	0.578056	0.33634	0	0.603688	0.36954	0	0.662026	0.63922	0	.	.	3.02	-2.92	0.05277	-1.212000	0.03103	-1.053000	0.06477	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1835:0.2932:0.1811:0.3422	0.444	0.00458	737	0.53483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	389.43	37	chr16	75267964	.	T	G	389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=375;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.361;SOR=0.91	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,967	9	0	1	0
chr16	75414590	75414590	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon2:c.G170A:p.S57N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00761520582534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.39820	T	0.226	0.25438	T	0.003	0.11197	B	0.001	0.04355	B	0.233843	0.15860	N	0.673458	0.996543	0.22981	N	1.95	0.52479	M	0.92	0.44461	T	-0.63	0.34795	N	0.19	0.20793	-1.0416	0.16830	T	0.106	0.38636	T	10	0.14283314	0.27125	T	0.007615	0.20192	T	0.095	0.27398	0.157	0.06070	0.629112818682	0.62608	0.02188016319116512	0.02140	0.0131043289129	0.01263	0.479553222656	0.35995	T	0.036751	0.24220	T	-0.229881	0.16666	T	-0.567985	0.15635	T	0.479482755643933	0.31878	T	0.562144	0.19863	T	0.11928983	0.28089	0.078210615	0.17497	0.11928983	0.28089	0.078210615	0.17497	-3.813	0.20999	T	.	.	0.064	0.17189	B	.;.;.	.;.;.	2.067376	0.26289	17.07	0.9942059769889221	0.63742	0.67476	0.33447	D	AEFBI	0.266404	0.38333	N	-0.0348032291430037	0.40283	2.389696	0.154357485495578	0.47373	2.968535	0.999999663528292	0.74766	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	2.160000	0.41975	0.180000	0.15620	0.599000	0.40250	1.000000	0.71638	0.965000	0.29475	0.997000	0.79791	0.0:1.0:0.0:0.0	15.216	0.72954	635	0.64580	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	38.05	46	chr16	75414590	.	C	T	38.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.514;DP=411;ExcessHet=0;FS=25.735;InbreedingCoeff=-0.0812;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=-0.166;SOR=4.802	GT:AD:DP:GQ:PL	0/0:39,0:39:53:0,53,727	8	0	1	1
chr16	75529834	75529834	C	T	exonic	CHST5	.	nonsynonymous SNV	CHST5:NM_024533:exon4:c.G551A:p.R184Q	.	1	1518	3	0	0	3	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0003	0.00878594	0.0038	0.0003	8.687e-05	0.0493	0	0.0004	0	0.0004	0.0034217	529	154602	rs201072221	0.0014	0.0014	0.0015	0.0014	0.0455	0.0014	0.0014	0.0437	0.0430	0.0001	6.708e-05	0.0049	0.0455	1.887e-05	0.0002	3.508e-05	0.0014	0.0005	0.0020	0.0020	0.0017	0.0023	0.0463	0.0018	0.0017	0.0415	0.0396	0.0006	0	0	0.0066	0.0463	0	0	0.0001	0.0019	0.0004	0.216	0.19225	T	0.21	0.26714	T	0.005	0.12996	B	0.007	0.12992	B	0.649809	0.10524	N	0.826677	0.999994	0.08975	N	-1.5	0.00507	N	2.04	0.20808	T	1.44	0.00794	N	0.013	0.00142	-0.9723	0.36712	T	0.002	0.00738	T	10	0.0023937821	0.00035	T	.	.	.	0.013	0.01715	.	.	0.115124310173	0.11017	0.7242318950763952	0.72367	0.62670987278	0.56792	0.398848026991	0.24908	T	0.236311	0.60376	T	-0.747748	0.00018	T	-0.811094	0.01640	T	0.013097168104769	0.00230	T	0.288271	0.05202	T	0.04268367	0.06517	0.04367869	0.05487	0.04268367	0.06516	0.04367869	0.05487	-2.96	0.09757	T	.	.	0.065	0.01834	B	.	.	-0.304415	0.02599	0.321	0.94978707404366247	0.25915	0.05675	0.11592	N	AEFDBI	0.037381	0.05132	N	-1.20734050088809	0.04891	0.221759	-1.15610583721063	0.06659	0.3212649	7.13097638222214E-4	0.07685	0.487112	0.14033	0	0.573888	0.26702	0	0.0	0.00061	3	0.542086	0.14980	0	.	.	2.73	-2.18	0.06643	0.071000	0.14461	-2.492000	0.03688	-2.050000	0.00419	0.799000	0.29708	0.000000	0.08366	0.028000	0.12845	0.0:0.2386:0.1718:0.5896	4.304	0.10382	715	0.56137	Sulfotransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4474.43	35	chr16	75529834	.	C	T	4474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.091;DP=1118;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.23;MQRankSum=-0.585;QD=7.58;ReadPosRankSum=1.24;SOR=0.681	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1167	9	0	1	0
chr16	75612562	75612562	T	G	exonic	ADAT1	.	nonsynonymous SNV	ADAT1:NM_001324452:exon5:c.A463C:p.T155P,ADAT1:NM_001324453:exon5:c.A463C:p.T155P,ADAT1:NM_001324445:exon6:c.A724C:p.T242P,ADAT1:NM_001324449:exon6:c.A724C:p.T242P,ADAT1:NM_001324451:exon6:c.A277C:p.T93P,ADAT1:NM_001324444:exon7:c.A277C:p.T93P,ADAT1:NM_001324446:exon7:c.A277C:p.T93P,ADAT1:NM_001324448:exon7:c.A724C:p.T242P,ADAT1:NM_001324450:exon7:c.A277C:p.T93P,ADAT1:NM_012091:exon7:c.A724C:p.T242P	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0005	0.00459265	0.0029	0.0003	0.0002	0.0349	0.0002	0.0004	0.0044	0.0010	0.0026843	415	154602	rs3743600	0.0016	0.0016	0.0016	0.0017	0.0353	0.0016	0.0015	0.0338	0.0332	0.0002	0.0001	0	0.0353	0.0005	0.0007	0.0005	0.0038	0.0015	0.0017	0.0017	0.0015	0.0019	0.0338	0.0015	0.0015	0.0297	0.0281	0.0005	0	0.0003	0	0.0338	0.0007	0	0.0004	0.0033	0.0025	0.16	0.23721	T	0.244	0.24123	T	0.583	0.38873	P	0.212	0.37394	B	0.000000	0.00162	N	18.758900	1	0.08975	N	2.42	0.70002	M	2.49	0.14531	T	-0.59	0.17624	N	0.071	0.04426	-1.0975	0.04407	T	0.012	0.04700	T	10	0.0031453073	0.00053	T	.	.	.	0.090	0.26093	.	.	0.0551355673512	0.04727	0.33632819823393095	0.33545	0.0075858458663	0.00669	0.23508092761	0.02365	T	0.066783	0.33034	T	-0.638037	0.00086	T	-0.659286	0.08315	T	0.0186225637036783	0.00576	T	0.153785	0.01329	T	0.07790278	0.17710	0.087956086	0.20477	0.07790278	0.17709	0.087956086	0.20477	-2.713	0.07413	T	.	.	0.066	0.02091	B	.	.	-3.037599	0.00009	0.001	0.60796076773209151	0.06550	0.04821	0.10546	N	AEFBI	0.164437	0.29083	N	-1.73888137634891	0.00713	0.03076936	-1.96792140270622	0.00357	0.01577895	0.999999570996067	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.19	-10.4	0.00257	-7.035000	0.00058	-14.292000	0.00411	-1.007000	0.01781	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1701:0.4997:0.0805:0.2497	5.487	0.16046	550	0.72197	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2403.43	37	chr16	75612562	.	T	G	2403.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.299;DP=536;ExcessHet=0;FS=2.521;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.807;SOR=0.689	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1309	9	0	1	0
chr16	77212194	77212194	-	G	exonic	SYCE1L	.	frameshift insertion	SYCE1L:NM_001348924:exon6:c.366dupG:p.E123Gfs*21,SYCE1L:NM_001129979:exon8:c.489dupG:p.E164Gfs*21	.	401	1096	24	1	0	26	0.0117223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.00179712	0.0097	0.0008	0	0	0	0.0119	0.0065	0.0109	0.0003074	8	26028	rs371551639	0.0027	0.0026	0.0025	0.0029	0.0087	0.0027	0.0026	0.0069	0.0067	0.0004	0.0014	0.0300	0	0.0002	0.0087	0.0020	0.0038	0.0073	0.0024	0.0024	0.0024	0.0025	0.0064	0.0022	0.0022	0.0047	0.0041	0.0003	0	0.0015	0.0369	0	0.0002	0.0034	0.0024	0.0033	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004474	0.013514	0.000000	0.008333	0.000000	0.000000	0.000000	0.000000	0.05	308.39	34	chr16	77212194	.	C	CG	308.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=347;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.017;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,12:36:99:320,0,721	9	0	1	0
chr16	77293108	77293108	G	A	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon20:c.C2641T:p.R881W,ADAMTS18:NM_199355:exon20:c.C3157T:p.R1053W	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	0	1509	12	1	0	14	0.00461741	.	.	.	740354	ADAMTS18-related_disorder|not_provided|Retinitis_pigmentosa|Microcornea-myopic_chorioretinal_atrophy	.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0014195,MedGen:C3809567,OMIM:615458,Orphanet:369970	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.340	0.102154903483	0.0012	0.00159744	0.0015	0	0.0009	0.0007	0	0.0024	0	0.0007	0.0015524	240	154602	rs148703569	0.0015	0.0015	0.0014	0.0016	0.0059	0.0015	0.0014	0.0043	0.0038	0.0004	0.0016	0.0026	0.0007	3.744e-05	0.0059	0.0016	0.0022	0.0008	0.0013	0.0013	0.0013	0.0013	0.0021	0.0011	0.0011	0.0018	0.0017	0.0002	0	0.0014	0.0032	0.0008	9.441e-05	0.0034	0.0021	0.0005	0.0010	0.001	0.78490	D	0.022	0.57587	D	0.996	0.68779	D	0.776	0.57120	P	0.000140	0.49741	D	0.127015	0.999372	0.46831	D	2.8	0.81625	M	0.13	0.60973	T	-3.71	0.70674	D	0.763	0.76111	-0.4737	0.69594	T	0.237	0.60403	T	10	0.03735739	0.02085	T	0.102155	0.77546	D	0.340	0.66202	.	.	0.74347698931	0.74117	0.6086171890107255	0.60793	.	.	0.39048397541	0.23738	T	0.115531	0.43418	T	-0.12544	0.32237	T	0.04118	0.73005	D	0.0719420581854792	0.08921	T	0.920408	0.71216	D	0.2973393	0.52665	0.29442412	0.55473	0.2973393	0.52665	0.29442412	0.55472	-11.046	0.79910	D	.	.	0.171	0.37558	B	.	.	4.465570	0.69536	25.4	0.99918335625753507	0.98586	0.91273	0.53202	D	AEFBI	0.708388	0.66281	D	0.151329574842158	0.48875	3.094435	0.169294759937076	0.48174	3.036878	0.999993647763845	0.74766	0.562547	0.31514	0	0.59043	0.45803	0	0.573078	0.19857	0	0.635551	0.53088	0	.	.	6.03	5.06	0.67838	2.940000	0.48695	7.387000	0.58489	0.671000	0.69459	0.997000	0.40164	1.000000	0.68203	0.249000	0.23237	0.0:0.0:0.7014:0.2986	13.213	0.59260	848	0.35897	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.009511	0.011696	0.000000	0.000000	0.012195	0.003788	0.05	1139.43	95	chr16	77293108	.	G	A	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=408;ExcessHet=0;FS=1.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.362;SOR=0.538	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1210	9	0	1	0
chr16	77335835	77335835	C	T	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon12:c.G1264A:p.A422T,ADAMTS18:NM_199355:exon12:c.G1780A:p.A594T	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	703831	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.090	.	0.0002	0.00299521	0.0027	0.0007	0.0234	0.0040	0	0.0001	0.0022	0	0.0024256	375	154602	rs140240513	0.0009	0.0009	0.0010	0.0008	0.0200	0.0009	0.0008	0.0189	0.0185	0.0006	0.0200	0	0.0075	1.872e-05	0	5.486e-05	0.0007	3.478e-05	0.0015	0.0015	0.0015	0.0015	0.0088	0.0013	0.0012	0.0076	0.0072	0.0013	0	0.0088	0	0.0031	0	0	0.0001	0.0038	0.0002	0.36	0.11919	T	0.482	0.11829	T	0.002	0.09854	B	0.005	0.11217	B	0.105205	0.19668	N	0.522971	1	0.08975	N	1.2	0.30300	L	4.3	0.02437	T	-0.32	0.12283	N	0.15	0.15328	-0.9623	0.38742	T	0.004	0.01192	T	10	0.009823471	0.00220	T	.	.	.	0.090	0.26093	.	.	0.229264304666	0.22521	0.1887787799816421	0.18795	.	.	0.228010326624	0.01824	T	0.009088	0.08297	T	-0.71181	0.00031	T	-0.778986	0.02484	T	0.00629070128854839	0.00070	T	0.592541	0.21854	T	0.066713065	0.14380	0.058924798	0.10974	0.066713065	0.14380	0.058924798	0.10973	-5.013	0.36981	T	.	.	0.067	0.02428	B	.	.	0.356498	0.07293	3.902	0.9838660609110873	0.40915	0.35691	0.25360	N	AEFDBCI	0.082100	0.16620	N	-0.989986746086175	0.08817	0.4148662	-0.992941509383779	0.09942	0.4977074	0.999984233753362	0.51787	0.562547	0.31514	0	0.573888	0.26702	0	0.535252	0.11790	0	0.635551	0.53088	0	.	.	5.74	-3.38	0.04577	0.116000	0.15393	-2.592000	0.03572	-0.171000	0.11205	0.002000	0.15269	0.000000	0.08366	0.791000	0.37352	0.3795:0.3545:0.0:0.266	4.648	0.11966	812	0.42537	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1986.43	33	chr16	77335835	.	C	T	1986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=483;ExcessHet=0;FS=1.893;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.026;SOR=0.865	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr16	77816980	77816980	C	T	exonic	VAT1L	.	nonsynonymous SNV	VAT1L:NM_020927:exon2:c.C293T:p.T98I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0273777614727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.08787	T	0.469	0.12281	T	0.884	0.48618	P	0.549	0.49194	P	0.000000	0.84330	D	0.046922	1	0.81001	D	0.945	0.23706	L	1.01	0.41058	T	-2.06	0.47175	N	0.63	0.64393	-1.0795	0.07446	T	0.096	0.36185	T	10	0.53202933	0.63238	D	0.027378	0.50196	D	0.203	0.48915	0.463	0.53242	0.508696012846	0.50510	0.673707980201549	0.67308	0.262508907343	0.28810	0.855479001999	0.90438	D	0.05871	0.30917	T	-0.0716425	0.41064	T	-0.340686	0.40267	T	0.663972139363623	0.39070	D	0.957604	0.84033	D	0.42025366	0.62108	0.2996911	0.56003	0.42025366	0.62109	0.2996911	0.56002	-8.089	0.61676	D	.	.	0.306	0.53464	B	.	.	4.287191	0.65350	24.8	0.99521345835982744	0.69284	0.97918	0.78116	D	AEFGBIJ	0.891613	0.82774	D	0.346516484482016	0.58556	4.028545	0.467023106678538	0.65816	4.87202	0.999999999999409	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.616125	0.45549	0	.	.	5.63	5.63	0.86108	7.568000	0.81546	7.623000	0.62394	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.287	0.94069	937	0.14592	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	99.14	34	chr16	77816980	.	C	T	99.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.193;DP=524;ExcessHet=0.2348;FS=206.329;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.514;SOR=8.254	GT:AD:DP:GQ:PL	0/1:51,16:67:40:40,0,900	8	0	2	0
chr16	79599341	79599341	-	GTG	exonic	MAF	.	nonframeshift insertion	MAF:NM_001031804:exon1:c.561_562insCAC:p.H187_A188insH,MAF:NM_005360:exon1:c.561_562insCAC:p.H187_A188insH	Ayme-Gripp syndrome, Autosomal dominant;Cataract 21, multiple types, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1029898670	0.0001	0.0001	0.0001	0.0001	0.0020	0.0001	0.0001	0.0015	0.0013	0	0	0	0.0003	0	0.0006	9.257e-05	0.0002	0.0020	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0.0001	0	0.0002	0	0.0006	0	0	0.0001	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	154.35	4	chr16	79599341	.	C	CGTG	154.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0;DP=57;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=30.87;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:1,4:5:30:165,0,30	8	0	1	1
chr16	81017351	81017351	A	C	exonic	CENPN	.	nonsynonymous SNV	CENPN:NM_001100624:exon4:c.A243C:p.K81N,CENPN:NM_001100625:exon4:c.A243C:p.K81N,CENPN:NM_001270474:exon4:c.A243C:p.K81N,CENPN:NM_018455:exon4:c.A243C:p.K81N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0223593744613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.44029	T	0.236	0.38742	T	0.997	0.73220	D	0.939	0.67921	D	0.003351	0.35069	N	0.334834	0.999877	0.50225	D	2.595	0.75868	M	1.89	0.23688	T	-2.71	0.57762	D	0.501	0.59901	-0.9603	0.39124	T	0.126	0.43194	T	10	0.38040057	0.54150	T	0.022359	0.45241	T	0.154	0.40340	0.615	0.74884	0.535102873643	0.53161	0.5731883797918002	0.57246	0.0737171720781	0.08266	0.520034849644	0.41631	T	0.04535	0.30689	T	-0.127573	0.31891	T	-0.421026	0.30959	T	0.947365641593933	0.62665	D	0.841716	0.51747	T	0.45992354	0.64666	0.25063944	0.50659	0.45992354	0.64667	0.25063944	0.50658	-3.937	0.24415	T	.	.	0.653	0.73746	P	.;.;.;.;.	.;.;.;.;.	3.244685	0.44309	21.9	0.99728835768281843	0.82619	0.83204	0.42341	D	AEFDBI	0.143542	0.26627	N	0.220933266469404	0.52215	3.397034	0.104620728649836	0.44784	2.753552	0.999998751777034	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	3.35	0.37468	2.108000	0.41478	5.464000	0.48679	0.691000	0.84096	0.965000	0.33920	1.000000	0.68203	0.804000	0.37906	0.7677:0.0:0.2323:0.0	8.385	0.31657	716	0.55970	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1034.43	36	chr16	81017351	.	A	C	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.969;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.077;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1097:.	9	0	1	0
chr16	81108667	81108667	G	A	exonic	PKD1L2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	6.84e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	87.43	58	chr16	81108667	.	G	A	87.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.301;DP=481;ExcessHet=0;FS=72.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.225;SOR=6.438	GT:AD:DP:GQ:PL	0/0:55,0:55:62:0,62,1336	9	0	1	0
chr16	81117382	81117382	G	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.389e-05	0	0	0	0	1.532e-05	0	0.0002	2.59e-05	4	154602	rs921590986	3.015e-05	3.078e-05	1.772e-05	4.271e-05	0.0007	2.285e-05	2.035e-05	0.0002	0.0001	0	6.76e-05	0	0	0	0.0007	1.26e-05	6.639e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	409.43	35	chr16	81117382	.	G	T	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.451;DP=367;ExcessHet=0;FS=2.662;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.31;ReadPosRankSum=1.16;SOR=1.127	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	9	0	1	0
chr16	81238944	81238944	G	C	exonic	BCO1	.	nonsynonymous SNV	BCO1:NM_017429:exon1:c.G36C:p.Q12H	Hypercarotenemia and vitamin A deficiency, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0417742597857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.05635	T	0.565	0.09205	T	0.007	0.14184	B	0.006	0.12133	B	0.001581	0.38612	N	0.300651	0.999985	0.30468	N	0.415	0.12483	N	-3.53	0.94764	D	-0.52	0.16187	N	0.069	0.04547	-0.1601	0.78668	T	0.649	0.87758	D	10	0.06381595	0.08372	T	0.041774	0.60110	D	0.189	0.46613	0.288	0.24761	0.578844998551	0.57554	0.6634242674215911	0.66279	0.0539382263776	0.05956	0.381477892399	0.22466	T	0.436539	0.78289	T	0.026814	0.55296	T	-0.19926	0.54716	T	0.0803482981846404	0.10032	T	0.610839	0.23175	T	0.09214179	0.21610	0.07128584	0.15248	0.09214179	0.21610	0.07128584	0.15247	-4.567	0.31754	T	0.08872912814297827	0.05348	0.134	0.45954	B	.;.	.;.	-0.839032	0.01033	0.043	0.33011606022178358	0.01944	0.04134	0.09615	N	AEFDBCI	0.060737	0.11564	N	-1.20566071799988	0.04916	0.2229342	-1.25482122587623	0.05060	0.2402081	0.999992510970697	0.74766	0.369785	0.05700	0	0.475579	0.06741	0	0.449817	0.06638	2	0.651492	0.60203	0	.	.	5.39	-1.54	0.08130	-1.818000	0.01811	-0.881000	0.07064	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.4485:0.214:0.3375:0.0	5.193	0.14543	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	806.43	71	chr16	81238944	.	G	C	806.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.745;DP=401;ExcessHet=0;FS=3.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.392;SOR=1.136	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1146	9	0	1	0
chr16	81923570	81923570	A	G	exonic	PLCG2	.	nonsynonymous SNV	PLCG2:NM_002661:exon22:c.A2393G:p.N798S	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, Autosomal dominant;Familial cold autoinflammatory syndrome 3, Autosomal dominant	0	1510	11	1	0	13	0.00428619	.	.	.	703845	PLCG2-related_disorder|not_provided|Familial_cold_autoinflammatory_syndrome_3	.|MedGen:C3661900|MONDO:MONDO:0013766,MedGen:C3280914,OMIM:614468,Orphanet:300359	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.476	0.0442979514588	0.0004	0.000798722	0.0007	0	9.084e-05	0	0.0002	0.0007	0.0011	0.0019	0.000608	94	154602	rs117077093	0.0007	0.0007	0.0007	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	5.978e-05	0.0002	0	0	0.0002	0.0014	0.0007	0.0006	0.0015	0.0007	0.0007	0.0006	0.0007	0.0025	0.0006	0.0005	0.0014	0.0011	7.221e-05	0.0253	0.0006	0	0	9.42e-05	0	0.0007	0.0014	0.0025	0.002	0.72154	D	0.071	0.44302	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.875	0.49914	L	0.76	0.49919	T	-4.75	0.80256	D	0.825	0.84401	-0.1592	0.78691	T	0.365	0.72537	T	10	0.06981483	0.10070	T	0.044298	0.61417	D	0.476	0.76816	.	.	0.8196176207	0.81791	0.7171844580215215	0.71661	0.844674069954	0.68227	0.630396425724	0.57201	T	0.474064	0.80567	T	-0.440621	0.01283	T	-0.424712	0.30537	T	0.184326552463704	0.19503	T	0.872513	0.57956	D	0.6822966	0.77093	0.69194406	0.81870	0.6822966	0.77094	0.69194406	0.81871	-7.494	0.57568	T	.	.	0.182	0.39528	B	.;.	.;.	4.207665	0.63548	24.6	0.99895795541546184	0.96895	0.98417	0.82562	D	AEFBCI	0.934112	0.92700	D	0.916291176346248	0.92533	11.47889	0.864534725077621	0.93836	12.31431	0.999999997642259	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.55	5.55	0.83298	8.818000	0.91619	10.951000	0.84400	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.696	0.77261	912	0.21483	SH3 domain|SH3 domain|SH3 domain|Pleckstrin homology domain|SH3 domain|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|Pleckstrin homology domain|SH3 domain|1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, SH3 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1726.43	121	chr16	81923570	.	A	G	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.538;DP=465;ExcessHet=0;FS=1.465;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.968;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1053	9	0	1	0
chr16	83032186	83032186	G	A	exonic	CDH13	.	nonsynonymous SNV	CDH13:NM_001220489:exon3:c.G334A:p.V112I,CDH13:NM_001220491:exon3:c.G334A:p.V112I,CDH13:NM_001220492:exon3:c.G334A:p.V112I,CDH13:NM_001257:exon3:c.G334A:p.V112I,CDH13:NM_001220488:exon4:c.G475A:p.V159I	.	423	1076	21	2	0	25	0.0114837	.	.	.	726822	not_provided|CDH13-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.056	0.0173886277024	0.0017	0.000599042	0.0027	0.0002	0.0010	0	0.0005	0.0035	0.0023	0.0049	0.0024903	385	154602	rs200199969	0.0023	0.0023	0.0022	0.0025	0.0173	0.0023	0.0022	0.0146	0.0136	0.0004	0.0015	0.0105	2.523e-05	0.0004	0.0173	0.0020	0.0028	0.0056	0.0019	0.0019	0.0020	0.0018	0.0039	0.0017	0.0017	0.0026	0.0023	0.0004	0	0.0008	0.0104	0	0.0004	0.0170	0.0028	0.0038	0.0039	0.216	0.19225	T	0.848	0.43913	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	-0.08	0.63911	T	-0.13	0.09627	N	0.154	0.18239	-0.9578	0.39589	T	0.158	0.49060	T	9	0.0044552386	0.00091	T	0.017389	0.39069	T	0.056	0.15993	.	.	0.620859307327	0.61778	0.21591271675986948	0.21507	0.0610399350882	0.06795	0.311910480261	0.12196	T	0.099392	0.40416	T	-0.514157	0.00475	T	-0.510787	0.21235	T	0.00325878001698791	0.00034	T	0.771423	0.40183	T	0.018378975	0.00359	0.024692005	0.00493	0.016962029	0.00235	0.03030839	0.01470	-3.238	0.22243	T	.	.	0.070	0.11941	B	.;.;.;.;.	.;.;.;.;.	0.287551	0.06639	3.138	0.97139356803091581	0.32534	0.09254	0.15047	N	AEFBI	0.056109	0.10347	N	-0.702517281820048	0.15951	0.808437	-0.66485474165278	0.17842	0.9505168	0.387530462930405	0.20016	0.719381	0.83141	0	0.573888	0.26702	0	0.607057	0.38367	0	0.733575	0.97253	0	.	.	5.65	3.7	0.41607	0.038000	0.13749	1.273000	0.25303	0.618000	0.50648	0.006000	0.17386	0.166000	0.23302	0.585000	0.31016	0.1426:0.2358:0.6215:0.0	7.609	0.27283	969	0.06854	Cadherin prodomain;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.010101	0.010870	0.032164	0.000000	0.034483	0.003049	0.011364	0.05	758.43	43	chr16	83032186	.	G	A	758.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.637;DP=465;ExcessHet=0;FS=0.865;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=1.03;SOR=0.578	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,105,1575	9	0	1	0
chr16	84016654	84016654	C	G	exonic	SLC38A8	.	nonsynonymous SNV	SLC38A8:NM_001080442:exon9:c.G1027C:p.G343R	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, Autosomal recessive	412	1066	43	1	0	45	0.0206706	.	.	.	715113	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.123	.	0.0015	0.00339457	0.0035	0.0004	0.0014	0	0.0002	0.0022	0.0045	0.0153	0.0030595	473	154602	rs113733057	0.0021	0.0021	0.0017	0.0026	0.0156	0.0021	0.0021	0.0143	0.0140	0.0004	0.0022	0.0243	0	1.885e-05	0.0156	0.0007	0.0039	0.0150	0.0020	0.0020	0.0018	0.0022	0.0124	0.0018	0.0018	0.0099	0.0090	0.0002	0	0.0039	0.0277	0	0	0.0068	0.0011	0.0033	0.0124	0.734	0.03764	T	0.857	0.03438	T	0.996	0.68779	D	0.843	0.60313	P	0.000626	0.42799	D	0.230494	0.976678	0.39297	D	1.26	0.31868	L	4.44	0.02139	T	0.88	0.01664	N	0.37	0.41162	-0.7667	0.57038	T	0.015	0.05801	T	10	0.0037727654	0.00070	T	.	.	.	0.123	0.34020	0.66	0.79791	0.218845423259	0.21516	0.8221951370456168	0.82176	.	.	0.434606850147	0.29839	T	0.016134	0.13395	T	-0.520904	0.00435	T	-0.508045	0.21517	T	0.0975460260413821	0.12084	T	0.794521	0.43681	T	0.12277327	0.28842	0.13418183	0.32159	0.14010163	0.32336	0.115680836	0.27924	-4.401	0.29571	T	0.19463165127106835	0.25652	0.128	0.27222	B	.	.	1.995967	0.25356	16.73	0.38185314514478214	0.02560	0.87881	0.47576	D	AEFDBI	0.629820	0.61140	D	0.123578966064112	0.47564	2.980404	0.0727503778097324	0.43184	2.625443	0.999998857313412	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	4.36	0.51643	2.625000	0.46117	1.737000	0.28371	0.535000	0.24933	0.062000	0.21832	0.265000	0.24010	0.035000	0.13729	0.0:1.0:0.0:0.0	13.809	0.62741	940	0.13648	Amino acid transporter, transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011111	0.000000	0.013587	0.023529	0.000000	0.000000	0.009202	0.011364	0.05	1110.43	37	chr16	84016654	.	C	G	1110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.197;DP=410;ExcessHet=0;FS=1.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.361;SOR=0.913	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1279	9	0	1	0
chr16	84059318	84059318	T	C	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon21:c.A2815G:p.N939D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0426789231699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.041	0.50514	D	0.997	0.70673	D	0.815	0.58847	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	1.88	0.23884	T	-3.73	0.70920	D	0.765	0.76296	-0.9545	0.40185	T	0.127	0.43277	T	10	0.7633705	0.76516	D	0.042679	0.60588	D	0.261	0.57352	0.197	0.10975	0.567351761699	0.56399	0.7743259195684004	0.77382	0.191270352614	0.21451	0.79516351223	0.81227	T	0.746305	0.93013	D	-0.109697	0.34817	T	-0.395349	0.33925	T	0.987643837928772	0.78100	D	0.924807	0.72410	D	0.4983987	0.67001	0.4296476	0.66640	0.4983987	0.67002	0.4296476	0.66640	-6.003	0.46305	T	.	.	0.535	0.66155	A	.	.	4.577596	0.72282	25.8	0.99665167262684584	0.78202	0.99295	0.94095	D	AEFDBI	0.893565	0.83166	D	0.667058528996502	0.77478	6.682124	0.66168785338176	0.79482	7.092119	0.999999999969376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	8.007000	0.88101	7.864000	0.71599	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:0.0:0.0:1.0	15.731	0.77564	923	0.18507	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	913.43	35	chr16	84059318	.	T	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.298;DP=416;ExcessHet=0;FS=1.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.455;SOR=0.461	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr16	84177797	84177797	C	G	exonic	DNAAF1	.	nonsynonymous SNV	DNAAF1:NM_001318756:exon8:c.C1426G:p.P476A,DNAAF1:NM_178452:exon12:c.C2134G:p.P712A	Ciliary dyskinesia, primary, 13, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	242528	Primary_ciliary_dyskinesia_13|Primary_ciliary_dyskinesia|not_provided|not_specified	MONDO:MONDO:0013174,MedGen:C2750790,OMIM:613193,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.051	.	0.0072	0.00499201	0.0020	0.0212	0.0008	0	0	0.0002	0.0011	0.0001	0.0019146	296	154602	rs4150187	0.0009	0.0009	0.0009	0.0008	0.0228	0.0008	0.0008	0.0215	0.0209	0.0228	0.0017	0	0	0	0.0033	0.0003	0.0021	0.0002	0.0060	0.0060	0.0064	0.0056	0.0204	0.0057	0.0055	0.0193	0.0188	0.0204	0	0.0020	0	0	0	0	0.0002	0.0062	0.0008	0.376	0.91255	T	0.939	0.29346	T	0.397	0.34783	B	0.133	0.33073	B	0.028768	0.01691	U	2.970030	1	0.08975	N	0	0.06538	N	1.63	0.28002	T	-0.22	0.24898	N	0.118	0.10769	-1.0365	0.18388	T	0.021	0.09101	T	10	0.0030957162	0.00051	T	.	.	.	0.051	0.14325	.	.	0.17258766438	0.16869	0.033735054606145246	0.03321	0.0204523279217	0.02011	0.230686500669	0.02019	T	0.002197	0.01594	T	-0.592893	0.00161	T	-0.607507	0.12188	T	0.0205549900992384	0.00755	T	0.423358	0.11306	T	0.020068951	0.00553	0.03521981	0.02732	0.023349721	0.01066	0.03861157	0.03767	-4.024	0.24162	T	.	.	0.069	0.06525	B	.;.	.;.	-1.130023	0.00606	0.016	0.42786608252730857	0.03177	0.04473	0.10084	N	ALL	0.064549	0.12540	N	-0.877350977835202	0.11382	0.5490183	-0.966171284112057	0.10550	0.5320765	0.999999999989802	0.74766	0.405899	0.06291	1	0.379588	0.06130	0	0.486962	0.07600	0	0.349732	0.05809	1	.	.	3.15	2.18	0.26813	-1.248000	0.03001	0.094000	0.14556	-0.972000	0.01937	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7608:0.2392:0.0	8.450	0.32026	730	0.54327	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.005051	0.006793	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	2114.43	36	chr16	84177797	.	C	G	2114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.272;DP=543;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.037;SOR=0.769	GT:AD:DP:GQ:PL	0/1:106,89:195:99:2126,0,2681	9	0	1	0
chr16	84495811	84495811	C	T	exonic	MEAK7	.	nonsynonymous SNV	MEAK7:NM_020947:exon3:c.G256A:p.V86M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0172058339175	7.7e-05	.	1.647e-05	0	8.637e-05	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs367837096	1.026e-05	1.026e-05	5.445e-06	1.513e-05	2.987e-05	6.16e-06	4.89e-06	3.85e-06	2.76e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	8.093e-06	1.656e-05	2.319e-05	6.577e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.01	0.67890	D	1.0	0.90584	D	0.923	0.65830	D	0.000578	0.43250	D	0.197328	0.952185	0.26447	N	2.585	0.75554	M	2.11	0.35219	T	-2.13	0.54864	N	0.325	0.36569	-1.0637	0.10855	T	0.097	0.36315	T	10	0.18410471	0.33769	T	0.017206	0.38815	T	0.081	0.23632	.	.	0.18274738541	0.17906	0.5695536254134856	0.56883	0.00588920429376	0.00512	0.364627242088	0.20058	T	0.014865	0.12575	T	-0.165841	0.25866	T	-0.379142	0.35824	T	0.68493789434433	0.40014	D	0.864814	0.57103	D	0.06041708	0.12394	0.12184027	0.29395	0.06041708	0.12394	0.12184027	0.29394	-4.606	0.32247	T	.	.	0.406	0.62306	A	.;.	.;.	2.604460	0.33816	19.45	0.99788110528910257	0.87396	0.12990	0.17599	N	AEFBCI	0.052407	0.09352	N	-0.0632439854393941	0.39013	2.293943	-0.257028119548613	0.29529	1.65516	0.99974344953618	0.42466	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	1.99	0.25423	0.015000	0.13250	-1.847000	0.04619	0.591000	0.32079	0.018000	0.19461	0.000000	0.08366	0.243000	0.23080	0.0:0.6665:0.0:0.3335	7.968	0.29270	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1681.43	35	chr16	84495811	.	C	T	1681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.403;DP=482;ExcessHet=0;FS=1.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.207;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	9	0	1	0
chr16	84988803	84988803	A	C	exonic	ZDHHC7	.	nonsynonymous SNV	ZDHHC7:NM_001145548:exon4:c.T386G:p.I129S	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00251097435481	0.0015	0.000399361	0.0020	0	0	0	0	0.0046	0.0042	0.0003	0.0005239	81	154602	rs200342644	0.0012	0.0011	0.0012	0.0012	0.0078	0.0011	0.0011	0.0060	0.0053	0.0006	0.0006	0.0119	2.798e-05	2.027e-05	0.0078	0.0011	0.0018	0.0004	0.0012	0.0012	0.0012	0.0011	0.0018	0.0010	0.0010	0.0012	0.0011	0.0003	0	0.0018	0.0101	0	0	0.0034	0.0014	0.0024	0.0002	0.848	0.02753	T	0.531	0.10069	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.43	0.32958	T	0.19	0.04947	N	0.045	0.01740	-0.9836	0.34164	T	0.030	0.12760	T	8	0.004234612	0.00085	T	0.002511	0.05009	T	.	.	.	.	0.0138822411134	0.00435	0.4432725508332261	0.44245	0.368065819238	0.38365	.	.	.	.	.	.	-0.723945	0.00026	T	-0.825903	0.01337	T	0.000395841692807153	0.00003	T	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-1.625	0.02041	T	.	.	0.090	0.12797	B	.	.	-0.116200	0.03546	0.680	0.26511680681727195	0.01273	0.00195	0.01126	N	AEFDBI	0.015354	0.00288	N	-1.4338685981944	0.02346	0.1035187	-1.5512308271567	0.01967	0.08984418	0.999024151132167	0.38237	0.706548	0.73137	0	0.653731	0.59785	0	0.385369	0.06276	2	0.714379	0.83352	0	.	.	1.73	-0.966	0.09793	-1.535000	0.02315	-0.716000	0.07727	-1.640000	0.00841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5872:0.2477:0.1651:0.0	4.014	0.09125	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002299	0.005319	0.006944	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1091.43	34	chr16	84988803	.	A	C	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=423;ExcessHet=0;FS=1.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.36;SOR=0.74	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1289	9	0	1	0
chr16	85078427	85078427	C	A	exonic	KIAA0513	.	nonsynonymous SNV	KIAA0513:NM_001286565:exon7:c.C795A:p.N265K,KIAA0513:NM_001286566:exon7:c.C795A:p.N265K,KIAA0513:NM_001297766:exon7:c.C795A:p.N265K,KIAA0513:NM_014732:exon7:c.C795A:p.N265K	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0102983413455	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380386609	1.368e-06	1.368e-06	0	2.751e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.50676	T	0.196	0.43344	T	0.02	0.18235	B	0.014	0.16862	B	0.314654	0.14373	N	0.727501	0.990251	0.24194	N	1.935	0.51832	L	1.32	0.42122	T	-0.56	0.30555	N	0.183	0.19995	-1.0400	0.17313	T	0.055	0.23262	T	10	0.05442688	0.05792	T	0.010298	0.26676	T	0.023	0.04649	0.291	0.25241	0.193865811164	0.18958	0.1469418264407332	0.14616	0.0994085722426	0.11232	0.312245488167	0.12246	T	0.007364	0.13127	T	-0.363605	0.03930	T	-0.65944	0.08304	T	0.0553143931906121	0.06410	T	0.831017	0.49766	T	0.123944305	0.29092	0.07677359	0.17037	0.123944305	0.29092	0.07677359	0.17036	-2.426	0.14378	T	.	.	0.093	0.17827	B	.;.;.;.;.;.	.;.;.;.;.;.	1.218431	0.16123	12.33	0.97752318340815747	0.35751	0.32233	0.24535	N	AEFDBI	0.080458	0.16267	N	-0.753994327467781	0.14525	0.7242553	-0.700218520227811	0.16955	0.8993495	0.990658204649311	0.32225	0.615465	0.37627	0	0.633656	0.55848	0	0.687403	0.62504	0	0.655142	0.61905	0	.	.	4.97	2.97	0.33479	0.456000	0.21572	1.359000	0.25866	0.599000	0.40250	0.008000	0.17931	0.798000	0.26924	0.031000	0.13245	0.0:0.8205:0.0:0.1795	9.545	0.38438	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	690.43	50	chr16	85078427	.	C	A	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.044;DP=536;ExcessHet=0;FS=2.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=1.08;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,32:64:99:702,0,691	9	0	1	0
chr16	85903034	85903034	G	A	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363907:exon2:c.G49A:p.G17S,IRF8:NM_002163:exon2:c.G19A:p.G7S	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1462570	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B	MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.639	0.183723672348	.	0.000199681	0.0001	0	0	0.0020	0	0	0	0	0.0001164	18	154602	rs201464467	6.02e-05	6.02e-05	6.126e-05	5.913e-05	0.0021	4.961e-05	4.627e-05	0.0017	0.0016	0	0	0	0.0021	0	0.0002	1.799e-06	3.312e-05	0	2.625e-05	2.625e-05	5.138e-05	0	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.078	0.34621	T	0.134	0.34241	T	0.609	0.39586	P	0.254	0.39164	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.75	0.45442	L	-4.54	0.97732	D	-0.44	0.18459	N	0.505	0.56145	0.988	0.96996	D	0.924	0.97490	D	10	0.0772455	0.12167	T	0.183724	0.85703	D	0.639	0.86232	0.338	0.32816	0.784665308955	0.78267	0.6024250295932645	0.60173	1.4946576136	0.86936	0.715586185455	0.69404	T	0.259209	0.63046	T	0.0368291	0.56627	T	0.250047	0.85622	D	0.190966328843199	0.19901	T	0.90371	0.66210	D	0.22642437	0.45323	0.38824493	0.63673	0.22642437	0.45323	0.38824493	0.63673	-3.607	0.17958	T	0.29099563831780634	0.38755	0.446	0.62078	A	.;.;.;.;.	.;.;.;.;.	4.683756	0.74978	26.3	0.99828449800332686	0.91026	0.96637	0.70145	D	AEFGBHCI	0.963333	0.98520	D	0.363953489014334	0.59479	4.127785	0.400641631653398	0.61604	4.362957	1.0	0.98316	0.446893	0.09132	0	0.52208	0.09955	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.58	5.58	0.84361	6.404000	0.73190	11.722000	0.94835	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:0.0:1.0:0.0	17.756	0.88357	970	0.06235	Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	707.43	34	chr16	85903034	.	G	A	707.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.069;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.024;SOR=0.712	GT:AD:DP:GQ:PL	0/1:27,30:57:99:719,0,617	9	0	1	0
chr16	85918797	85918797	T	G	exonic	IRF8	.	nonsynonymous SNV	IRF8:NM_001363908:exon5:c.T370G:p.F124V,IRF8:NM_001363907:exon7:c.T1012G:p.F338V,IRF8:NM_002163:exon7:c.T982G:p.F328V	Immunodeficiency 32A, mycobacteriosis, autosomal dominant, Autosomal dominant;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, Autosomal recessive	0	1501	19	2	0	23	0.00760331	.	.	.	486158	not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_partial_IRF8_deficiency|Immunodeficiency_32B|IRF8-related_disorder	MedGen:C3661900|MONDO:MONDO:0013957,MedGen:C3808589,OMIM:614893,Orphanet:319600|MONDO:MONDO:0009194,MedGen:C4751209,OMIM:226990,Orphanet:2566|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.351	0.20769611581	0.0002	0.000998403	0.0012	0.0002	0.0004	0.0001	0	0.0003	0.0023	0.0070	0.001009	156	154602	rs202046728	0.0006	0.0006	0.0004	0.0008	0.0055	0.0006	0.0005	0.0051	0.0049	0.0001	0.0005	0	2.519e-05	0	0.0047	0.0002	0.0009	0.0055	0.0005	0.0005	0.0004	0.0005	0.0050	0.0004	0.0003	0.0034	0.0029	0.0002	0	0.0010	0	0	0	0.0034	0.0003	0.0005	0.0050	0.02	0.55530	D	0.037	0.67890	D	0.001	0.07471	B	0.009	0.14300	B	0.009152	0.30494	N	0.401655	0.619357	0.30793	N	1.605	0.40863	L	-3.19	0.93170	D	0.35	0.05035	N	0.425	0.46649	-0.2654	0.75939	T	0.632	0.87102	D	10	0.0115574	0.00261	T	0.207696	0.87107	D	0.351	0.67234	.	.	0.658593015935	0.65573	0.3841033044616251	0.38325	0.749371048524	0.63688	0.463641107082	0.33810	T	0.517141	0.83044	D	-0.232603	0.16306	T	-0.105252	0.62988	T	0.0275112459255449	0.01618	T	0.713829	0.33319	T	0.08052185	0.18456	0.0643025	0.12868	0.06332419	0.13322	0.05643354	0.10080	-3.422	0.15354	T	0.16528918988687305	0.20481	0.161	0.46700	B	.;.;.;.	.;.;.;.	2.953947	0.39315	20.9	0.97486410063945161	0.34219	0.81664	0.41023	D	AEFGBHCI	0.386683	0.46695	N	-0.439020089020507	0.24114	1.299763	-0.355132035847008	0.26351	1.454916	0.997251064563144	0.35425	0.645754	0.44609	0	0.696144	0.67643	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.1	0.112	0.13929	0.296000	0.18839	0.261000	0.16544	0.665000	0.62972	0.974000	0.34632	0.996000	0.32793	0.974000	0.55675	0.253:0.2889:0.0:0.4582	3.736	0.08035	969	0.06854	Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3;Interferon regulatory factor-3|Interferon regulatory factor DNA-binding domain|Interferon regulatory factor-3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.017241	0.006098	0.003788	0.05	1090.43	33	chr16	85918797	.	T	G	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=436;ExcessHet=0;FS=3.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.081;SOR=1.06	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1097	9	0	1	0
chr16	86511477	86511477	G	A	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.G908A:p.S303N	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	326503	not_provided|Alveolar_capillary_dysplasia_with_pulmonary_venous_misalignment	MedGen:C3661900|MONDO:MONDO:0009934,MedGen:C2960310,OMIM:265380,Orphanet:210122	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.476	.	0.0039	0.00559105	0.0015	0.0226	0.0017	0	0	3.02e-05	0.0024	0	0.0010349	160	154602	rs200676463	0.0004	0.0004	0.0005	0.0004	0.0149	0.0004	0.0004	0.0138	0.0134	0.0149	0.0011	0	0	0	0.0007	1.173e-05	0.0010	4.725e-05	0.0044	0.0044	0.0046	0.0041	0.0152	0.0041	0.0040	0.0142	0.0138	0.0152	0	0.0018	0	0	0	0	4.412e-05	0.0024	0	0.016	0.51853	D	0.19	0.28482	T	0.984	0.60733	D	0.784	0.57456	P	0.000011	0.62929	D	0.114699	0.999999	0.58761	D	1.765	0.45800	L	-3.88	0.95953	D	-0.31	0.12099	N	0.123	0.11483	0.566	0.91444	D	0.754	0.91616	D	10	0.00680995	0.00155	T	.	.	.	0.476	0.76816	.	.	0.769513769259	0.76739	0.4792855686471884	0.47848	.	.	0.660281300545	0.61449	T	0.260074	0.63141	T	-0.359836	0.04139	T	-0.27603	0.47209	T	0.0218487827989522	0.00892	T	0.743326	0.36245	T	0.20073064	0.42058	0.29722312	0.55755	0.22668646	0.45354	0.28386304	0.54381	-5.172	0.38656	T	0.13720707333717172	0.15074	0.089	0.12276	B	.	.	4.078307	0.60652	24.2	0.99546046676301714	0.70836	0.97649	0.76151	D	AEFDBHCI	0.777168	0.71005	D	0.511337524782395	0.67757	5.124693	0.490308365544267	0.67345	5.071711	0.999999999999135	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.620976	0.48614	0	.	.	4.24	4.24	0.49486	4.732000	0.61723	11.591000	0.93406	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	15.593	0.76303	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1124.43	39	chr16	86511477	.	G	A	1124.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.286;DP=397;ExcessHet=0;FS=2.279;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.3;ReadPosRankSum=-0.074;SOR=0.547	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	9	0	1	0
chr16	86532136	86532136	G	A	exonic	MTHFSD	.	nonsynonymous SNV	MTHFSD:NM_001159377:exon8:c.C1027T:p.R343C,MTHFSD:NM_001159378:exon8:c.C1027T:p.R343C,MTHFSD:NM_001159379:exon8:c.C1024T:p.R342C,MTHFSD:NM_001159380:exon8:c.C967T:p.R323C,MTHFSD:NM_022764:exon8:c.C1024T:p.R342C	.	420	1101	1	0	0	1	0.000453926	.	.	.	4029957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.0206077856256	.	0.000199681	0.0001	0.0002	0	0.0002	0	9.767e-05	0	0.0002	6.47e-05	10	154602	rs541512635	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	6.287e-05	0	0	5.267e-05	0	0.0002	0.0002	8.663e-05	2.553e-05	5.263e-05	5.25e-05	5.147e-05	5.384e-05	9.642e-05	2.56e-05	1.832e-05	3.247e-05	1.913e-05	9.642e-05	0	0	0	0	0	0	4.415e-05	0.0005	0	0.024	0.50676	D	0.023	0.63918	D	1.0	0.90584	D	0.91	0.64641	D	0.300540	0.14606	N	0.712428	0.998605	0.45151	D	2.015	0.55033	M	2.32	0.16640	T	-2.11	0.53736	N	0.187	0.20395	-1.0802	0.07310	T	0.079	0.31344	T	10	0.23935905	0.41075	T	0.020608	0.43239	T	0.238	0.54217	0.742	0.87401	0.425970041486	0.42213	0.48815677265121027	0.48735	0.021639631476	0.02150	0.298172831535	0.10130	T	0.003112	0.11410	T	-0.372223	0.03483	T	-0.50802	0.21519	T	0.0749772042036057	0.09332	T	0.906409	0.69449	D	0.1762072	0.38521	0.100481324	0.24026	0.1762072	0.38521	0.100481324	0.24025	-8.136	0.62459	D	.	.	0.106	0.23952	B	.;.;.;.;.	.;.;.;.;.	3.345358	0.46112	22.2	0.99761186535699609	0.85091	0.80562	0.40167	D	AEFDBCI	0.456183	0.50815	N	-0.0460984135594728	0.39776	2.351225	-0.199481227858091	0.31556	1.786959	0.019676165337437	0.13184	0.706298	0.61202	0	0.709663	0.81188	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	5.16	0.158	0.14233	2.347000	0.43692	0.456000	0.18569	0.654000	0.53741	1.000000	0.71638	0.000000	0.08366	0.049000	0.15107	0.0727:0.3648:0.5625:0.0	11.646	0.50523	976	0.04745	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|MTHFSD, RNA recognition motif;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|MTHFSD, RNA recognition motif;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	756.43	36	chr16	86532136	.	G	A	756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=396;ExcessHet=0;FS=5.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=1.13;SOR=0.635	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr16	86552196	86552196	G	A	exonic	MTHFSD	.	nonsynonymous SNV	MTHFSD:NM_001159378:exon3:c.C220T:p.R74C,MTHFSD:NM_001159379:exon3:c.C217T:p.R73C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.391	0.0712965614752	.	.	2.528e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs767847970	1.779e-05	1.779e-05	1.361e-05	2.2e-05	0.0002	1.238e-05	1.052e-05	0.0001	0.0001	0	0	0	2.519e-05	0	0	5.396e-06	0	0.0002	2.626e-05	2.625e-05	1.285e-05	4.027e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	0.017	0.51248	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.88	0.46028	T	-7.13	0.95366	D	0.704	0.71143	-0.3889	0.72377	T	0.224	0.58856	T	9	0.79639137	0.79108	D	0.071297	0.71233	D	0.391	0.70684	.	.	0.698870113343	0.69627	.	.	.	.	0.513438403606	0.40704	T	0.426218	0.82212	T	-0.187465	0.22630	T	-0.247378	0.50076	T	0.515599846839905	0.33203	D	0.867613	0.60854	D	.	.	.	.	.	.	.	.	-11.923	0.84473	D	.	.	0.605	0.73980	P	.;.;.;.	.;.;.;.	2.873055	0.37996	20.6	0.99918182604276173	0.98586	0.98534	0.83810	D	AEFBI	0.905489	0.85707	D	0.669226680842934	0.77617	6.709469	0.622878872725212	0.76605	6.521911	0.999996477284352	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.408882	0.06424	0	0.635551	0.53088	0	.	.	5.93	4.88	0.63131	7.144000	0.76943	4.395000	0.43227	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0787:0.0:0.9213:0.0	13.788	0.62612	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1754.43	35	chr16	86552196	.	G	A	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.42;DP=490;ExcessHet=0;FS=1.287;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.493;SOR=0.808	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	9	0	1	0
chr16	87334102	87334102	C	T	exonic	FBXO31	.	nonsynonymous SNV	FBXO31:NM_024735:exon8:c.G1181A:p.R394Q,FBXO31:NM_001282683:exon9:c.G665A:p.R222Q	.	407	1077	36	2	0	40	0.0182315	.	.	.	363776	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0031	0.00499201	0.0073	0.0010	0.0009	0	0.0080	0.0065	0.0149	0.0210	0.0061966	958	154602	rs34412175	0.0057	0.0057	0.0052	0.0063	0.0213	0.0056	0.0056	0.0205	0.0202	0.0010	0.0013	0.0027	2.524e-05	0.0083	0.0082	0.0050	0.0048	0.0213	0.0041	0.0041	0.0038	0.0044	0.0255	0.0038	0.0037	0.0218	0.0204	0.0009	0.0055	0.0020	0.0029	0	0.0064	0	0.0050	0.0047	0.0255	0.681	0.04417	T	0.628	0.07244	T	0.001	0.07471	B	0.0	0.01387	B	0.468824	0.04914	N	1.339340	1	0.08975	N	0.145	0.08828	N	.	.	.	-0.23	0.10656	N	0.151	0.16586	-0.9968	0.30810	T	0.032	0.13767	T	9	0.0034515262	0.00061	T	.	.	.	0.023	0.04649	.	.	0.332276917938	0.32835	0.1664556576959302	0.16565	0.946797189832	0.72441	0.551140546799	0.46018	T	0.046748	0.27518	T	-0.58606	0.00177	T	-0.598355	0.12950	T	0.00308901087855757	0.00032	T	0.584642	0.21576	T	0.020204976	0.00571	0.031183796	0.01673	0.021092037	0.00694	0.029805074	0.01359	-2.828	0.08444	T	.	.	0.058	0.00625	B	.;.	.;.	-0.833436	0.01043	0.044	0.88303682295588026	0.17872	0.03603	0.08832	N	AEFDBCI	0.055012	0.10052	N	-2.1869927052836	0.00082	0.003508921	-2.27788948086742	0.00074	0.003268579	0.999999996461227	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.38	-8.75	0.00721	-3.085000	0.00674	-12.326000	0.00533	-1.076000	0.01581	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5487:0.3183:0.1331	12.006	0.52550	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010070	0.000000	0.004076	0.005848	0.000000	0.008621	0.009146	0.037879	0.05	786.43	33	chr16	87334102	.	C	T	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.35;DP=383;ExcessHet=0;FS=4.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.204;SOR=1.323	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1025	9	0	1	0
chr16	87411584	87411584	T	A	exonic	ZCCHC14	.	nonsynonymous SNV	ZCCHC14:NM_015144:exon12:c.A3137T:p.Y1046F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.0534924208049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.26	0.23029	T	0.957	0.54824	D	0.751	0.56062	P	0.000000	0.84330	D	0.000000	0.988096	0.40703	D	2.085	0.57729	M	-0.87	0.74583	T	-1.91	0.44471	N	0.516	0.54671	-0.0352	0.81521	T	0.454	0.78691	T	10	0.61476713	0.67643	D	0.053492	0.65491	D	0.563	0.82118	0.779	0.90388	0.411668409108	0.40782	0.6206324303509964	0.61996	0.227799887911	0.25335	0.765096545219	0.76690	T	0.082898	0.36931	T	0.057685	0.59322	T	-0.154916	0.58806	T	0.757155134658669	0.43689	D	.	.	.	0.5891468	0.72104	0.47041318	0.69290	0.5891468	0.72105	0.47041318	0.69290	-7.37	0.56693	T	.	.	0.325	0.54833	B	.	.	3.941169	0.57670	23.9	0.96658128542518373	0.30614	0.98225	0.80702	D	AEFBI	0.526089	0.54859	D	0.578193645553997	0.71815	5.708612	0.60355971946258	0.75198	6.268334	0.999155814938064	0.38592	0.706548	0.73137	0	0.610034	0.51514	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	5.449000	0.66364	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	15.975	0.79848	840	0.37365	Zinc finger, CCHC-type|Zinc finger, CCHC-type|Zinc finger, CCHC-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1788.43	34	chr16	87411584	.	T	A	1788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.36;DP=467;ExcessHet=0;FS=1.44;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=2.5;SOR=0.565	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	9	0	1	0
chr16	87644281	87644281	G	A	exonic	JPH3	.	nonsynonymous SNV	JPH3:NM_020655:exon2:c.G406A:p.G136S	Huntington disease-like 2, Autosomal dominant	0	1509	12	1	0	14	0.00461741	.	.	.	1274842	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.049	0.0162692725796	0.0029	0.00119808	0.0023	0.0003	0.0006	0.0002	0.0002	0.0035	0.0024	0.0018	0.0020246	313	154602	rs149647215	0.0023	0.0023	0.0022	0.0024	0.0026	0.0022	0.0022	0.0020	0.0019	0.0006	0.0010	0.0276	2.521e-05	0.0001	0.0026	0.0019	0.0041	0.0023	0.0019	0.0019	0.0020	0.0017	0.0025	0.0017	0.0016	0.0018	0.0017	0.0004	0.0044	0.0005	0.0274	0.0004	0	0.0034	0.0021	0.0005	0.0025	0.139	0.25768	T	0.224	0.25591	T	0.139	0.27501	B	0.044	0.24394	B	0.000013	0.62929	D	0.112853	0.999969	0.52935	D	0.995	0.25082	L	0.52	0.55266	T	-2.13	0.48354	N	0.368	0.40963	-1.0282	0.21038	T	0.104	0.38144	T	10	0.0101519525	0.00227	T	0.016269	0.37444	T	0.049	0.13647	.	.	0.526266166122	0.52272	0.39360193056682985	0.39275	1.32069806668	0.83445	0.577369689941	0.49715	T	0.254733	0.62543	T	-0.445019	0.01208	T	-0.417873	0.31318	T	0.014508552521472	0.00296	T	0.940306	0.77472	D	0.13051903	0.30451	0.16262403	0.37766	0.14575458	0.33396	0.18811211	0.42082	-6.101	0.47117	T	.	.	0.096	0.15160	B	.	.	3.147489	0.42591	21.6	0.99806838157877786	0.89085	0.96490	0.69398	D	AEFDBI	0.785380	0.71578	D	-0.136699326648952	0.35803	2.061147	0.0139201676066663	0.40361	2.407457	0.999999694060578	0.74766	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.73	3.77	0.42499	4.927000	0.63141	9.817000	0.81781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0836:0.0:0.9164:0.0	12.171	0.53466	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.009146	0.000000	0.05	1422.43	70	chr16	87644281	.	G	A	1422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-0.885;SOR=0.623	GT:AD:DP:GQ:PL	0/0:62,0:62:99:0,120,1800	9	0	1	0
chr16	87708392	87708392	C	T	exonic	KLHDC4	.	nonsynonymous SNV	KLHDC4:NM_001184854:exon9:c.G1351A:p.D451N,KLHDC4:NM_001184856:exon10:c.G1429A:p.D477N,KLHDC4:NM_001351938:exon10:c.G979A:p.D327N,KLHDC4:NM_001351937:exon11:c.G979A:p.D327N,KLHDC4:NM_017566:exon11:c.G1522A:p.D508N	.	420	1101	1	0	0	1	0.000453926	.	.	.	2235915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00585699620313	0.0013	0.000199681	0.0006	0.0004	0.0002	0	0.0002	0.0010	0	0	0.0006404	99	154602	rs138909472	0.0011	0.0011	0.0011	0.0012	0.0014	0.0011	0.0011	0.0013	0.0013	8.966e-05	8.958e-05	0	0	0.0002	0.0003	0.0014	0.0007	0.0002	0.0012	0.0012	0.0013	0.0010	0.0017	0.0010	0.0010	0.0014	0.0013	0.0003	0.0538	0.0003	0	0	9.418e-05	0	0.0017	0	0.0002	0.236	0.17940	T	0.005	0.72224	D	0.188	0.36269	B	0.05	0.25278	B	0.078979	0.21012	N	0.548730	1	0.08975	N	1.935	0.51832	L	3.25	0.11947	T	-2.0	0.46673	N	0.263	0.29774	-1.0388	0.17678	T	0.029	0.12234	T	10	0.0041535497	0.00082	T	0.005857	0.15251	T	0.079	0.23065	.	.	0.40146981186	0.39757	0.06088696258434724	0.06028	0.0127159060618	0.01221	0.420483916998	0.27902	T	0.044466	0.26823	T	-0.598028	0.00150	T	-0.65643	0.08509	T	0.0554464290044321	0.06431	T	0.584642	0.21276	T	0.090958044	0.21301	0.0496453	0.07628	0.090958044	0.21301	0.0496453	0.07628	-5.5	0.43057	T	.	.	0.097	0.16231	B	.;.;.	.;.;.	1.716924	0.21862	15.38	0.98999604428730203	0.50127	0.48198	0.28153	N	AEFDBI	0.109836	0.21803	N	-0.502812220330571	0.21988	1.170967	-0.52903631059167	0.21365	1.155479	0.999954358850521	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.58	4.58	0.56077	1.338000	0.33478	1.107000	0.24123	0.530000	0.24713	0.113000	0.23048	0.004000	0.18990	0.002000	0.04165	0.0:1.0:0.0:0.0	14.469	0.67080	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1140.43	85	chr16	87708392	.	C	T	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=398;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=0.066;SOR=1.04	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	9	0	1	0
chr16	88427532	88427532	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G62A:p.R21H	Brittle cornea syndrome 1, Autosomal recessive	0	1494	27	1	0	29	0.0096122	.	.	.	326618	Cardiovascular_phenotype|not_specified|Ehlers-Danlos_syndrome|Brittle_cornea_syndrome_1|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	.	.	0.00499201	0.0118	0.0057	0.0214	0	0	0.0182	0.0263	0.0091	0.0023674	366	154602	rs145178398	0.0081	0.0077	0.0081	0.0081	0.0088	0.0080	0.0079	0.0087	0.0086	0.0013	0.0036	0.0157	0	0.0043	0.0034	0.0088	0.0069	0.0074	0.0058	0.0058	0.0058	0.0058	0.0086	0.0055	0.0054	0.0080	0.0078	0.0017	0.0044	0.0059	0.0153	0	0.0036	0.0034	0.0086	0.0057	0.0066	0.18	0.22400	T	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	0.03	0.06612	N	0.05	0.05037	-1.0338	0.19236	T	0.012	0.04463	T	9	0.0037742555	0.00070	T	.	.	.	0.072	0.21020	.	.	0.664396564672	0.66157	0.06809096253003429	0.06747	.	.	0.399574637413	0.25009	T	0.004883	0.04301	T	-0.601046	0.00144	T	-0.625107	0.10788	T	0.0113616910780997	0.00169	T	0.537446	0.18074	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.10256	B	.;.	.;.	2.206932	0.28152	17.70	0.97222968793600684	0.32910	0.10005	0.15628	N	AEFBI	0.117775	0.23058	N	-0.452251600634593	0.23662	1.272334	-0.448637441627505	0.23587	1.287103	0.0212846817170094	0.13335	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.58	2.39	0.28492	0.536000	0.22838	4.257000	0.42787	0.618000	0.50648	0.001000	0.13787	0.979000	0.30280	0.537000	0.29868	0.0:0.0:0.5964:0.4036	7.378	0.26015	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1080.43	71	chr16	88427532	.	G	A	1080.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.548;DP=397;ExcessHet=0;FS=2.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.22;ReadPosRankSum=1.1;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1007	9	0	1	0
chr16	88430955	88430955	G	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G3485T:p.R1162L	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326674	not_provided|Brittle_cornea_syndrome_1	MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.544802437983	.	.	.	.	.	.	.	.	.	.	.	.	.	rs886052402	6.505e-06	8.893e-06	1.141e-05	1.465e-06	0.0002	3.06e-06	2.22e-06	3.86e-05	2.291e-05	0	0.0001	0	0	0	0.0002	3.714e-06	0	0	6.58e-06	6.568e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.266	0.16251	T	0.106	0.39340	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.34	0.06063	T	-0.52	0.19085	N	0.105	0.08925	-0.9395	0.42695	T	0.009	0.03140	T	9	0.10284427	0.18873	T	0.544802	0.95777	D	0.015	0.02232	0.26	0.20315	0.144782658237	0.14088	0.07198247784591716	0.07135	.	.	0.421528488398	0.28047	T	0.013868	0.11911	T	-0.498786	0.00581	T	-0.689819	0.06399	T	0.0179487501367705	0.00521	T	0.465053	0.13602	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.11027	B	.;.	.;.	0.145270	0.05383	1.864	0.47225072788069561	0.03844	0.61424	0.31480	D	ALL	0.124185	0.24013	N	-1.17896853982961	0.05318	0.2421723	-1.23337836697876	0.05382	0.2562837	0.999999986656008	0.74766	0.56387	0.32371	0	0.218748	0.04544	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	2.59	-0.34	0.12016	0.066000	0.14358	0.023000	0.13619	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3158:0.221:0.4632:0.0	4.128	0.09605	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	482.43	45	chr16	88430955	.	G	T	482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=349;ExcessHet=0;FS=3.512;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.23;ReadPosRankSum=0.876;SOR=1.417	GT:AD:DP:GQ:PL	0/0:24,0:24:60:0,60,900	9	0	1	0
chr16	88432319	88432319	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C4849T:p.P1617S	Brittle cornea syndrome 1, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	344340	not_provided|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|ZNF469-related_disorder	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.413174753535	.	0.000399361	0.0006	0	0	0	0	0	0	0.0012	7.76e-05	12	154602	rs557351664	0.0001	0.0001	5.657e-05	0.0002	0.0014	9.41e-05	8.869e-05	0.0012	0.0011	0	0	0	2.798e-05	0	0.0011	2.595e-05	0.0001	0.0014	8.534e-05	8.53e-05	6.424e-05	0.0001	0.0014	4.953e-05	3.959e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0	5.879e-05	0.0005	0.0014	0.171	0.22746	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.37	0.05847	T	-1.43	0.35194	N	0.072	0.04547	-0.9214	0.45362	T	0.010	0.03492	T	9	0.019594729	0.00440	T	0.413175	0.93641	D	0.007	0.00512	0.257	0.19845	0.16115917748	0.15686	0.13371102965942055	0.13295	.	.	0.227654546499	0.01799	T	0.011068	0.09921	T	-0.60726	0.00132	T	-0.685597	0.06647	T	0.0281935885798024	0.01716	T	0.526147	0.17328	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.23744	B	.;.	.;.	-0.631801	0.01487	0.093	0.89308696089830986	0.18686	0.09272	0.15061	N	AEFDBI	0.073729	0.14755	N	-1.22770479027339	0.04602	0.2080409	-1.27271209748788	0.04803	0.2274343	0.129737375171041	0.17066	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.17	0.884	0.18317	-1.425000	0.02552	-2.451000	0.03738	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1803:0.541:0.1752:0.1035	3.021	0.05707	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2230.43	85	chr16	88432319	.	C	T	2230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.276;DP=913;ExcessHet=0;FS=2.592;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.257;SOR=0.905	GT:AD:DP:GQ:PL	0/1:88,91:179:99:2242,0,2265	9	0	1	0
chr16	88432422	88432422	A	G	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.A4952G:p.Q1651R	Brittle cornea syndrome 1, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	192280	Cardiovascular_phenotype|not_provided|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.004	0.159296427236	.	.	0.0004	0	0	0	0	0.0007	0.0063	0.0003	5.82e-05	9	154602	rs773925755	0.0004	0.0004	0.0004	0.0004	0.0077	0.0003	0.0003	0.0059	0.0053	0.0002	0.0007	0.0031	0	0	0.0077	0.0003	0.0011	0.0002	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0008	0.0007	0.0002	0	0.0012	0.0012	0	0	0.0068	0.0003	0.0005	0.0006	0.486	0.08091	T	0.211	0.26631	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.35	0.05989	T	-0.28	0.11547	N	0.029	0.02272	-0.9424	0.42234	T	0.007	0.02558	T	9	0.018613935	0.00407	T	0.159296	0.83953	D	0.004	0.00165	.	.	0.15556083564	0.15200	0.23828793486895608	0.23742	.	.	0.261016577482	0.05013	T	0.01143	0.10197	T	-0.664458	0.00059	T	-0.825782	0.01339	T	0.00135794444940984	0.00013	T	0.348565	0.07715	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.08609	B	.;.	.;.	-1.103645	0.00636	0.017	0.43578238770904026	0.03290	0.03014	0.07887	N	AEFDBI	0.087573	0.17757	N	-1.52929385133207	0.01660	0.07259991	-1.65009968223497	0.01375	0.0621263	0.999741137325267	0.42466	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.19	-8.38	0.00851	-0.724000	0.05050	-2.177000	0.04100	-0.351000	0.05566	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3759:0.2506:0.0942:0.2793	1.084	0.01545	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014607	0.026667	0.032110	0.009091	0.000000	0.000000	0.000000	0.000000	0.05	2333.43	85	chr16	88432422	.	A	G	2333.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.214;DP=798;ExcessHet=0;FS=2.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.679;SOR=0.597	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	9	0	1	0
chr16	88433168	88433168	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C5698T:p.P1900S	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1487871	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.269499843528	.	.	5.423e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs754730500	1.503e-05	1.437e-05	1.976e-05	1.015e-05	0.0002	9.66e-06	8.19e-06	8.78e-06	7.11e-06	0	0	0	0	0	0.0002	1.483e-05	5.175e-05	1.262e-05	1.972e-05	1.97e-05	3.855e-05	0	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.727	0.03846	T	0.794	0.04142	T	.	.	.	.	.	.	.	.	.	.	0.999981	0.18198	N	.	.	.	3.4	0.05642	T	0.92	0.01573	N	0.124	0.11626	-0.9784	0.35368	T	0.007	0.02558	T	9	0.057233155	0.06542	T	0.270	0.89824	D	0.053	0.14996	0.332	0.31843	0.384252928164	0.38032	0.16842369000211604	0.16762	.	.	0.372817367315	0.21235	T	0.005088	0.04527	T	-0.367516	0.03722	T	-0.750202	0.03478	T	0.0973240173832578	0.12059	T	0.374163	0.08891	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07697	B	.;.	.;.	0.336117	0.07097	3.672	0.34554967331392561	0.02120	0.20692	0.21134	N	AEFBI	0.082733	0.16754	N	-0.749236162808642	0.14655	0.7318121	-0.813273373484006	0.14174	0.7392639	0.240531948208539	0.18566	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.57	2.0	0.25495	1.157000	0.31335	0.307000	0.17042	0.549000	0.26987	0.091000	0.22601	0.015000	0.20450	0.011000	0.09372	0.193:0.6562:0.0:0.1508	4.648	0.11966	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1975.43	107	chr16	88433168	.	C	T	1975.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.904;DP=899;ExcessHet=0;FS=0.6;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.739;SOR=0.596	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	9	0	1	0
chr16	88435973	88435973	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8503C:p.E2835Q	Brittle cornea syndrome 1, Autosomal recessive	0	1485	33	4	0	41	0.0136167	.	.	.	326712	ZNF469-related_disorder|Cardiovascular_phenotype|Brittle_cornea_syndrome_1|Ehlers-Danlos_syndrome|not_specified|not_provided	.|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.021	0.381191108686	.	0.00139776	0.0038	0.0007	0.0028	0	0	0.0026	0	0.0058	0.0005757	89	154602	rs200153921	0.0011	0.0010	0.0009	0.0012	0.0227	0.0010	0.0010	0.0195	0.0183	0.0009	0.0011	0.0043	0	0	0.0227	0.0006	0.0021	0.0047	0.0010	0.0010	0.0009	0.0011	0.0052	0.0009	0.0008	0.0036	0.0031	0.0002	0	0.0010	0.0046	0	9.407e-05	0.0272	0.0010	0.0038	0.0052	0.271	0.15984	T	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.24	0.06845	T	-0.76	0.21215	N	0.029	0.00666	-0.9278	0.44458	T	0.010	0.03765	T	9	0.0073034167	0.00166	T	0.381191	0.92975	D	0.021	0.04004	.	.	0.0297737177859	0.01360	0.10078178713489579	0.10009	.	.	0.251232206821	0.03898	T	0.01889	0.15149	T	-0.655829	0.00067	T	-0.714563	0.05063	T	0.0054582720408137	0.00059	T	0.49515	0.15352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08560	B	.;.	.;.	0.162934	0.05532	1.993	0.96003666688408718	0.28422	0.01458	0.04877	N	AEFDBI	0.043533	0.06895	N	-1.16904501798776	0.05473	0.2496227	-1.25720120207156	0.05025	0.2384723	0.974507050025547	0.29548	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.9	-5.55	0.02336	-0.080000	0.11303	0.627000	0.20189	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2731:0.4976:0.2293:0.0	6.893	0.23424	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019737	0.000000	0.037313	0.017544	0.083333	0.041667	0.020548	0.012195	0.05	2763.43	215	chr16	88435973	.	G	C	2763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.359;DP=1066;ExcessHet=0;FS=1.049;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=-3.002;SOR=0.604	GT:AD:DP:GQ:PL	0/0:82,0:82:99:0,120,1800	9	0	1	0
chr16	88436838	88436838	G	A	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G9368A:p.R3123H	Brittle cornea syndrome 1, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	409765	not_provided|Brittle_cornea_syndrome_1|Cardiovascular_phenotype|not_specified	MedGen:C3661900|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.371	0.18832904981	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs536601676	0.0006	0.0007	0.0006	0.0006	0.0002	0.0006	0.0005	5.333e-05	4.896e-05	3.181e-05	0	0	0	0.0193	0.0002	6.599e-05	0.0006	0	0.0015	0.0015	0.0008	0.0023	0.0002	0.0014	0.0013	0.0001	8.877e-05	0	0	0	0	0	0.0206	0	0.0002	0.0005	0	0.064	0.37536	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.988353	0.40749	D	.	.	.	0.14	0.60854	T	-2.15	0.49352	N	0.142	0.17416	-0.6934	0.60749	T	0.286	0.65802	T	9	0.008793712	0.00199	T	0.188329	0.85994	D	0.371	0.69016	.	.	0.417586769301	0.41374	0.19630781765376662	0.19547	.	.	0.514157891273	0.40804	T	0.028803	0.20781	T	-0.218526	0.18195	T	-0.193093	0.55300	T	0.0920900458757632	0.11463	T	0.764624	0.39166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.32992	B	.;.	.;.	4.453664	0.69252	25.3	0.99606916379938915	0.74575	0.98095	0.79555	D	AEFDGBI	0.869352	0.78984	D	0.387541226434186	0.60746	4.267034	0.355649533429916	0.58849	4.05814	0.999999999997299	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.85	4.85	0.62375	7.898000	0.85965	6.463000	0.55698	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:0.0:1.0:0.0	16.948	0.86104	.	.	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	650.43	47	chr16	88436838	.	G	A	650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.866;DP=438;ExcessHet=0;FS=0.999;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.687;SOR=0.488	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	9	0	1	0
chr16	88577149	88577149	G	A	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_001294340:exon2:c.G26A:p.R9Q,ZC3H18:NM_144604:exon2:c.G26A:p.R9Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00588287225852	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs562706352	4.218e-06	5.472e-06	4.17e-06	4.267e-06	2.753e-06	1.52e-06	1e-06	7.3e-07	2e-07	0	0	0	0	0	0	2.753e-06	5.121e-05	0	6.567e-06	6.562e-06	1.285e-05	0	6.537e-05	0	0	.	.	0	0	6.537e-05	0	0	0	0	0	0	0	0.076	0.35349	T	0.826	0.06713	T	0.005	0.12996	B	0.003	0.08700	B	0.000236	0.47286	N	0.192205	0.999297	0.21398	N	1.5	0.37844	L	1.62	0.28836	T	-0.05	0.15782	N	0.136	0.13341	-1.0362	0.18481	T	0.049	0.21026	T	10	0.06542733	0.08824	T	0.005883	0.15310	T	0.041	0.10877	0.147	0.05039	0.043077524339	0.03247	0.02502180436741748	0.02453	0.0188031930792	0.01831	0.370954871178	0.20969	T	0.022471	0.17317	T	-0.381267	0.03059	T	-0.672949	0.07421	T	0.109566703099967	0.13378	T	0.785321	0.42297	T	0.021924028	0.00823	0.036254544	0.03036	0.021924028	0.00822	0.036254544	0.03036	-9.558	0.71219	D	.	.	0.075	0.09288	B	.;.;.	.;.;.	2.478105	0.31950	18.90	0.99654026403878315	0.77505	0.76827	0.37711	D	AEFBCI	0.120374	0.23452	N	-0.515418285868382	0.21581	1.146374	-0.378229456597688	0.25646	1.411724	0.992860941698702	0.32997	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	2.51	0.29435	0.550000	0.23052	2.734000	0.34411	-1.428000	0.01119	0.996000	0.39380	1.000000	0.68203	0.581000	0.30918	0.2011:0.1143:0.5604:0.1242	3.343	0.06707	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000512	0.000000	0.000000	0.002976	0.000000	0.000000	0.000000	0.000000	0.05	1675.43	73	chr16	88577149	.	G	A	1675.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.674;DP=759;ExcessHet=0;FS=5.504;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=0.229;SOR=0.434	GT:AD:DP:GQ:PL	0/0:67,0:67:99:0,120,1800	9	0	1	0
chr16	88678609	88678609	A	G	exonic	SNAI3	.	nonsynonymous SNV	SNAI3:NM_178310:exon3:c.T718C:p.S240P	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00308581833417	.	.	0.0001	0	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs756830843	9.055e-05	7.976e-05	5.83e-05	0.0001	0.0010	7.534e-05	6.988e-05	0.0007	0.0007	0	0	0	0	0	0.0010	2.364e-05	2.168e-05	0.0009	4.599e-05	4.596e-05	1.284e-05	8.07e-05	0.0012	2.109e-05	1.527e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	1.0	0.00964	T	0.562	0.09052	T	0.002	0.09854	B	0.003	0.08700	B	0.071601	0.21463	N	0.488750	0.914336	0.27437	N	-0.225	0.03956	N	3.16	0.07711	T	0.0	0.07008	N	0.085	0.06190	-0.9644	0.38330	T	0.011	0.03949	T	10	0.013599247	0.00288	T	0.003086	0.06666	T	0.017	0.02790	0.298	0.26362	0.101711395817	0.09552	.	.	0.102752772597	0.11625	0.43028151989	0.29247	T	0.00956	0.08696	T	-0.57669	0.00202	T	-0.686656	0.06585	T	0.0115443713626257	0.00174	T	0.591441	0.21800	T	0.07785037	0.17695	0.094383836	0.22339	0.07785037	0.17695	0.094383836	0.22338	-2.008	0.03211	T	.	.	0.185	0.39999	B	.	.	0.335339	0.07092	3.663	0.62144538025631235	0.06888	0.52933	0.29250	D	AEFGBCI	0.050238	0.08761	N	-1.07549923926784	0.07098	0.3286794	-1.00381156188531	0.09702	0.4841763	0.446362504946642	0.20500	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	5.09	-2.16	0.06684	0.001000	0.12940	-0.266000	0.10387	-0.137000	0.12594	0.734000	0.28964	0.004000	0.18990	0.478000	0.28520	0.6251:0.0:0.3749:0.0	10.242	0.42499	824	0.40336	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	1383.43	106	chr16	88678609	.	A	G	1383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.02;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.247;SOR=0.669	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1327	9	0	1	0
chr16	88715213	88715213	C	G	exonic	CTU2	.	nonsynonymous SNV	CTU2:NM_001012762:exon14:c.C1451G:p.S484C,CTU2:NM_001318513:exon14:c.C1249G:p.L417V,CTU2:NM_001012759:exon15:c.C1510G:p.L504V,CTU2:NM_001318507:exon15:c.C1723G:p.L575V	.	421	1100	1	0	0	1	0.000454339	.	.	YES	1706579	See_cases	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0232201841752	.	.	0.0001	0	0	0	0	1.531e-05	0	0.0008	9.7e-05	15	154602	rs770524689	7.465e-05	7.456e-05	5.452e-05	9.5e-05	0.0010	6.322e-05	5.88e-05	0.0007	0.0006	0	0	0	0	0	0.0010	2.428e-05	6.627e-05	0.0008	3.943e-05	3.94e-05	1.285e-05	6.727e-05	0.0010	1.716e-05	1.13e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	0.009	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.994	0.82059	D	0.000730	0.42129	D	0.160224	0.719786	0.29933	N	.	.	.	0.7	0.51474	T	-2.2	0.56301	N	0.258	0.39760	-1.0754	0.08266	T	0.031	0.13199	T	9	0.02735123	0.00883	T	0.02322	0.46168	T	0.134	0.36365	0.386	0.40624	0.212008924253	0.20833	0.40476075127382755	0.40392	.	.	0.4127368927	0.26836	T	0.14522	0.68652	T	-0.323415	0.06621	T	-0.326495	0.41858	T	0.277522504329681	0.24067	T	0.60284	0.22604	T	0.11884268	0.27992	0.11486334	0.27728	0.11884268	0.27992	0.11486334	0.27727	-8.762	0.66152	D	0.567676564178102	0.63502	0.102	0.25265	B	.;.;.	.;.;.	2.622840	0.34091	19.53	0.80740156092123794	0.13346	0.52410	0.29125	D	AEFGBCI	0.116459	0.22856	N	-0.639155179184892	0.17777	0.9176416	-0.659068469292143	0.17988	0.958949	0.968225558084702	0.29036	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.19	2.75	0.31439	0.451000	0.21492	0.724000	0.21035	0.599000	0.40250	0.003000	0.16062	0.117000	0.22861	0.090000	0.17789	0.0:0.6846:0.1809:0.1344	6.460	0.21153	895	0.25842	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003817	0.05	1301.43	104	chr16	88715213	.	C	G	1301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.794;DP=464;ExcessHet=0;FS=5.032;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.332;SOR=1.199	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr16	88715649	88715649	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon51:c.C7522T:p.R2508C	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.858179566126	.	.	0.0001	0	0	0	0	0.0001	0	0.0001	1.29e-05	2	154602	rs751834996	2.575e-05	2.463e-05	1.976e-05	3.191e-05	0.0002	1.885e-05	1.673e-05	1.676e-05	1.424e-05	0	2.801e-05	3.971e-05	5.597e-05	0	0.0002	2.41e-05	3.449e-05	3.786e-05	5.256e-05	5.253e-05	7.706e-05	2.69e-05	7.348e-05	2.557e-05	1.83e-05	2.846e-05	1.858e-05	4.825e-05	0	6.542e-05	0	0	0	0	7.348e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.195	0.89043	M	-3.77	0.95595	D	-7.56	0.95216	D	0.8	0.79599	1.095	0.99460	D	0.941	0.98068	D	10	0.94262326	0.93587	D	0.85818	0.98910	D	0.947	0.98955	0.729	0.86286	0.822142883595	0.82046	0.9573625499967734	0.95721	.	.	0.846412301064	0.89071	D	0.628911	0.88473	D	-0.239364	0.15430	T	-0.378007	0.35955	T	0.949338853359222	0.63091	D	0.978602	0.92442	D	0.87047106	0.88898	0.6957464	0.82086	0.87047106	0.88900	0.6957464	0.82087	-11.179	0.80631	D	0.8764397374674017	0.93555	0.921	0.84262	P	.	.	5.611210	0.92533	32	0.96483313885870658	0.29981	0.99369	0.95128	D	AEFDBHCI	0.939817	0.94091	D	0.939862899494117	0.93571	12.12844	0.853406675211474	0.93212	11.897	0.999999999821895	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.74	4.74	0.59717	9.851000	0.98382	11.833000	0.97585	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	16.863	0.85889	895	0.25842	Piezo non-specific cation channel, R-Ras-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	815.43	36	chr16	88715649	.	G	A	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=405;ExcessHet=0;FS=4.341;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.459;SOR=1.182	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	9	0	1	0
chr16	88723301	88723301	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon32:c.G4363A:p.A1455T	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	382	1133	7	0	0	7	0.00307963	.	.	.	703890	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.066	.	.	0.00119808	0.0024	0	0	0	0.0122	0.0036	0.0062	0.0018	0.0004657	72	154602	rs191656121	0.0015	0.0014	0.0014	0.0016	0.0053	0.0014	0.0014	0.0038	0.0033	0.0001	0.0006	0.0002	0.0006	0.0016	0.0053	0.0016	0.0012	0.0014	0.0016	0.0016	0.0017	0.0015	0.0028	0.0014	0.0014	0.0025	0.0023	0.0001	0	0.0007	0	0.0012	0.0010	0.0068	0.0028	0.0024	0.0025	0.485	0.08115	T	0.038	0.51421	D	0.343	0.33512	B	0.035	0.22741	B	0.000890	0.41231	D	0.200054	0.930638	0.36964	D	1.785	0.46417	L	-0.71	0.72889	T	-1.15	0.29525	N	0.223	0.25006	-0.8457	0.52263	T	0.206	0.56431	T	10	0.004822403	0.00102	T	.	.	.	0.081	0.23632	.	.	0.134007934775	0.12933	0.1714602444143789	0.17066	.	.	0.516444385052	0.41126	T	0.072419	0.34450	T	-0.423406	0.01628	T	-0.383075	0.35361	T	0.0125514325208221	0.00208	T	0.825517	0.48813	T	0.084059775	0.19440	0.09396206	0.22219	0.084059775	0.19439	0.09396206	0.22219	-5.355	0.40484	T	0.10148391091314822	0.07607	0.089	0.12323	B	.	.	3.390508	0.46937	22.4	0.99882234198270403	0.95813	0.76538	0.37545	D	AEFDBCI	0.268612	0.38506	N	0.10048653159397	0.46485	2.88814	0.130408842044348	0.46112	2.862587	0.988704923019811	0.31601	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.1	4.09	0.47038	0.636000	0.24333	3.957000	0.40718	0.599000	0.40250	0.138000	0.23473	0.999000	0.35428	0.977000	0.56843	0.0:0.7677:0.1478:0.0845	9.444	0.37852	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.005917	0.000000	0.012195	0.007143	0.000000	0.000000	0.000000	0.011628	0.05	771.43	42	chr16	88723301	.	C	T	771.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.835;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.402;SOR=0.591	GT:AD:DP:GQ:PL	0/1:30,35:65:99:783,0,658	9	0	1	0
chr16	88723954	88723954	A	G	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon31:c.T4252C:p.Y1418H	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	417	1098	6	0	1	7	0.0027248	.	.	.	610044	PIEZO1-related_disorder|not_provided|Inborn_genetic_diseases|not_specified	.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.183	0.89066738677	0.0015	0.000399361	0.0005	0.0005	0	0	0	0.0009	0	0.0001	0.0001294	20	154602	rs147153006	0.0005	0.0005	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0005	9.506e-05	0.0003	0.0009	0	6.246e-05	0.0012	0.0006	0.0004	3.789e-05	0.0004	0.0004	0.0004	0.0003	0.0007	0.0003	0.0003	0.0005	0.0005	9.615e-05	0	0.0002	0.0006	0	9.411e-05	0	0.0007	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.99994	0.51968	D	3.14	0.88230	M	-2.39	0.88377	D	-4.76	0.80340	D	0.624	0.63883	0.842	0.94932	D	0.828	0.94217	D	10	0.6056006	0.67156	D	0.890667	0.99171	D	0.745	0.91198	.	.	0.316310170894	0.31242	0.782061536528509	0.78157	.	.	0.882346987724	0.94275	D	0.601872	0.87252	D	-0.0449742	0.45207	T	0.0795892	0.75552	D	0.290976107120514	0.24630	T	0.892211	0.62852	D	0.8456782	0.87018	0.7017626	0.82425	0.8456782	0.87020	0.7017626	0.82426	-8.981	0.67575	D	0.8412013313219475	0.90967	0.935	0.85467	P	.	.	4.751374	0.76731	26.6	0.99808331519073767	0.89264	0.93282	0.57801	D	AEFDBI	0.655490	0.62781	D	0.694036259007718	0.79241	7.036523	0.62413344769972	0.76696	6.538923	0.999999747744918	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.794000	0.62175	10.977000	0.84575	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	1.0:0.0:0.0:0.0	14.344	0.66206	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002632	0.000000	0.000000	0.008065	0.000000	0.000000	0.004464	0.000000	0.05	1937.43	136	chr16	88723954	.	A	G	1937.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.474;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	9	0	1	0
chr16	88736210	88736210	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon12:c.G1495A:p.V499I	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	426	1085	9	2	0	13	0.00595511	.	.	.	1196174	not_provided|Inborn_genetic_diseases|PIEZO1-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.113	0.177545364407	.	0.000399361	0.0005	0	0.0029	0	0	0.0007	0	0.0004	0.000207	32	154602	rs530486445	0.0009	0.0009	0.0010	0.0009	0.0079	0.0009	0.0009	0.0060	0.0054	0.0004	0.0007	0.0014	5.597e-05	0.0001	0.0079	0.0010	0.0008	0.0005	0.0007	0.0007	0.0006	0.0008	0.0012	0.0006	0.0005	0.0008	0.0008	0.0001	0	0.0012	0.0014	0	0	0.0068	0.0010	0	0.0006	0.799	0.03125	T	0.351	0.17425	T	0.014	0.16867	B	0.005	0.11217	B	0.000024	0.55875	D	0.065276	0.699722	0.30114	N	0.63	0.15941	N	-1.82	0.84047	D	0.15	0.05310	N	0.109	0.09490	-0.7264	0.59145	T	0.340	0.70608	T	10	0.010295153	0.00230	T	0.177545	0.85296	D	0.285	0.60338	.	.	0.0675242888579	0.06100	0.08238491071398324	0.08173	.	.	0.566157817841	0.48135	T	0.00317	0.02576	T	-0.364518	0.03881	T	-0.356979	0.38403	T	0.0145007613998494	0.00295	T	0.742326	0.36163	T	0.013507873	0.00061	0.026395345	0.00727	0.013507873	0.00061	0.026395345	0.00727	-5.198	0.38921	T	.	.	0.081	0.08272	B	.	.	1.982115	0.25182	16.67	0.99570214088054965	0.72318	0.37958	0.25879	N	AEFBHCI	0.170467	0.29737	N	-0.334845440161081	0.27833	1.530253	-0.168228459271217	0.32714	1.863874	0.99998444847203	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.73	3.52	0.39415	0.534000	0.22807	0.199000	0.15831	-0.256000	0.07045	0.908000	0.31627	0.008000	0.19753	0.963000	0.52385	0.0:0.626:0.0:0.374	3.711	0.07949	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004310	0.000000	0.000000	0.016807	0.000000	0.000000	0.000000	0.000000	0.05	801.43	41	chr16	88736210	.	C	T	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.226;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.17;SOR=0.616	GT:AD:DP:GQ:PL	0/1:52,35:87:99:813,0,1372	9	0	1	0
chr16	88737953	88737953	G	A	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon8:c.C1001T:p.A334V	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	428	1089	5	0	0	5	0.00229043	.	.	.	1300044	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.103	0.339522351967	.	.	0.0004	0	0	0	0	0.0003	0	0.0006	8.41e-05	13	154602	rs574402639	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0010	0.0007	3.172e-05	0.0004	8.066e-05	0	0	0.0018	0.0002	0.0003	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	4.809e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0002	0.365	0.11732	T	0.387	0.15650	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	-0.57	0.71307	T	-0.81	0.22294	N	0.083	0.05929	-1.0336	0.19300	T	0.108	0.39147	T	9	0.18677816	0.34158	T	0.339522	0.91976	D	0.103	0.29403	.	.	0.102598925029	0.09809	0.22471149889364886	0.22386	.	.	0.250103354454	0.03778	T	0.006927	0.06354	T	-0.513322	0.00481	T	-0.613218	0.11725	T	0.0210515226431	0.00806	T	0.239076	0.03406	T	0.025577618	0.01512	0.025855556	0.00646	0.025577618	0.01512	0.025855556	0.00646	-3.435	0.15532	T	0.09400642515438426	0.06244	0.076	0.06159	B	.	.	-0.176537	0.03212	0.534	0.81977007174965633	0.13956	0.06460	0.12468	N	AEFDGBCI	0.082275	0.16657	N	-2.13053493881582	0.00110	0.004691375	-2.19990471196293	0.00112	0.004926557	0.999999743809922	0.74766	0.741868	0.97996	0	0.577304	0.33150	0	0.774882	0.98623	0	0.691587	0.68394	0	.	.	5.12	-10.2	0.00305	-0.382000	0.07466	-0.329000	0.09904	-2.932000	0.00155	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0712:0.4455:0.2145:0.2688	5.893	0.18169	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002012	0.000000	0.009259	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	640.43	64	chr16	88737953	.	G	A	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=625;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.079;SOR=1.139	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	9	0	1	0
chr16	88805794	88805794	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon5:c.C757T:p.R253C	Meier-Gorlin syndrome 4, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1032974	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.134	0.0153964741361	0.0002	.	9.211e-05	0.0003	8.703e-05	0.0003	0	6.115e-05	0	0	9.06e-05	14	154602	rs143284523	6.092e-05	6.088e-05	7.083e-05	5.092e-05	0.0009	5.031e-05	4.675e-05	0.0003	0.0002	0.0003	0.0003	0	0.0002	0	0.0009	4.137e-05	6.625e-05	0	0.0001	0.0001	0.0002	8.067e-05	0.0003	8.663e-05	7.255e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	8.818e-05	0.0005	0	0.135	0.26192	T	0.09	0.40267	T	0.75	0.43260	P	0.271	0.39904	B	0.000253	0.46924	N	0.177478	0.997641	0.44063	D	1.9	0.50570	L	1.48	0.31731	T	-4.25	0.76094	D	0.223	0.25006	-1.0993	0.04177	T	0.043	0.18659	T	10	0.14731556	0.27916	T	0.015396	0.36109	T	0.134	0.36365	.	.	0.563173181975	0.55979	0.5149894818215873	0.51421	0.0151872281652	0.01440	0.286704361439	0.08444	T	0.126572	0.45304	T	-0.358945	0.04189	T	-0.384626	0.35181	T	0.340185880661011	0.26631	T	0.892211	0.62852	D	0.18199979	0.39397	0.12291496	0.29645	0.18199979	0.39397	0.12291496	0.29644	-10.502	0.76859	D	0.14600391862078166	0.16807	0.098	0.16054	B	.	.	3.519681	0.49330	22.8	0.99167246929954389	0.54269	0.87868	0.47558	D	AEFDBCI	0.439385	0.49838	N	-0.189383678693764	0.33575	1.906418	-0.205115020570351	0.31352	1.773494	0.999998559392731	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.83	1.42	0.21524	3.284000	0.51413	0.577000	0.19666	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.584000	0.30992	0.3918:0.3821:0.125:0.1011	2.562	0.04484	809	0.43032	CDT1 Geminin-binding domain-like|CDT1 Geminin-binding domain-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.005051	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	1261.43	53	chr16	88805794	.	C	T	1261.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=882;ExcessHet=0;FS=5.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-1.351;SOR=1.2	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	9	0	1	0
chr16	88807091	88807091	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon8:c.C1163T:p.A388V	Meier-Gorlin syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0303240306061	.	.	5.879e-05	0	0.0003	0	0	4.615e-05	0	6.061e-05	4.53e-05	7	154602	rs773673217	3.218e-05	3.215e-05	3.406e-05	3.028e-05	0.0002	2.48e-05	2.223e-05	0.0001	0.0001	0	0.0002	3.827e-05	0	0	0	2.698e-05	3.313e-05	3.478e-05	4.598e-05	4.596e-05	6.421e-05	2.689e-05	0.0001	2.108e-05	1.526e-05	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0	0	9.411e-05	0	4.409e-05	0	0	0.25	0.17126	T	0.294	0.20745	T	0.003	0.11197	B	0.0	0.01387	B	0.977319	0.08117	N	0.987802	1	0.08975	N	-0.69	0.01958	N	-1.06	0.76819	T	-0.54	0.16598	N	0.127	0.12055	-0.9062	0.47308	T	0.246	0.61448	T	10	0.03194508	0.01336	T	0.030324	0.52661	D	0.176	0.44373	0.124	0.03018	0.651524792116	0.64862	0.21984279097224962	0.21900	0.0127212984453	0.01221	0.247838973999	0.03543	T	0.047234	0.27661	T	-0.341043	0.05316	T	-0.442948	0.28480	T	0.0223733079304436	0.00951	T	0.268873	0.04498	T	0.021439336	0.00746	0.03440986	0.02503	0.021439336	0.00746	0.03440986	0.02502	-5.0	0.36840	T	0.0955676745177062	0.06518	0.074	0.05188	B	.	.	0.758550	0.11281	7.908	0.89734349950045711	0.19054	0.59364	0.30895	D	AEFDBHCI	0.152047	0.27665	N	-1.35324159892084	0.03091	0.1375537	-1.36852212592704	0.03592	0.167873	0.999999090971968	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.27	0.608	0.16746	0.355000	0.19902	1.691000	0.28071	-0.749000	0.03603	0.000000	0.06391	0.014000	0.20376	0.002000	0.04165	0.5987:0.1385:0.0:0.2629	6.749	0.22663	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	898.43	33	chr16	88807091	.	C	T	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.842;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=2.56;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	9	0	1	0
chr16	88807362	88807362	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1357T:p.R453W	Meier-Gorlin syndrome 4, Autosomal recessive	0	1503	17	2	0	21	0.00693756	.	.	.	429864	not_provided|not_specified|Meier-Gorlin_syndrome_4	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013431,MedGen:C3151120,OMIM:613804,Orphanet:2554	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.591	0.196229013514	0.0002	0.00119808	0.0015	0.0002	0.0004	0	0	0.0002	0.0024	0.0097	0.0012613	195	154602	rs200672589	0.0007	0.0007	0.0004	0.0010	0.0100	0.0007	0.0007	0.0095	0.0093	5.975e-05	0.0001	0	0	1.924e-05	0.0017	8.994e-05	0.0009	0.0100	0.0004	0.0004	0.0003	0.0006	0.0087	0.0003	0.0003	0.0066	0.0059	2.405e-05	0	6.532e-05	0	0	0	0	0.0002	0.0005	0.0087	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000011	0.62929	D	0.064498	0.994457	0.42288	D	3.04	0.86592	M	-1.89	0.84557	D	-6.96	0.93509	D	0.944	0.95139	0.236	0.86517	D	0.703	0.89779	D	10	0.044795364	0.03478	T	0.196229	0.86468	D	0.591	0.83691	.	.	0.966768201255	0.96641	0.692137122156209	0.69153	0.0957176713652	0.10811	0.487810194492	0.37135	T	0.678472	0.90533	D	0.0893022	0.63112	D	0.362749	0.90804	D	0.261758791827368	0.23392	T	0.907609	0.67324	D	0.8409009	0.86673	0.7466684	0.85026	0.8409009	0.86674	0.7466684	0.85027	-9.535	0.71076	D	0.8500032524423916	0.91640	0.141	0.30971	B	.	.	4.595256	0.72728	25.9	0.99750430590642192	0.84228	0.97147	0.72965	D	AEFDBHCI	0.482043	0.52308	N	0.00257246074425099	0.41972	2.520293	-0.209665185033156	0.31187	1.762707	0.999993722833189	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.48	0.746	0.17514	3.144000	0.50312	3.284000	0.37253	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.2042:0.5621:0.0992:0.1345	4.433	0.10959	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005102	0.001359	0.002941	0.000000	0.000000	0.003049	0.015152	0.1	1481.14	33	chr16	88807362	.	C	T	1481.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.31;DP=400;ExcessHet=0.2348;FS=2.296;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.332;SOR=0.882	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1047	8	0	2	0
chr16	88866449	88866449	T	C	exonic	PABPN1L	.	nonsynonymous SNV	PABPN1L:NM_001080487:exon3:c.A158G:p.E53G,PABPN1L:NM_001294328:exon3:c.A158G:p.E53G,PABPN1L:NM_001385709:exon3:c.A158G:p.E53G	.	384	1122	12	4	0	20	0.00883392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0038	0.00219649	0.0067	0.0013	0.0098	0	0.0098	0.0119	0.01	0.0025	0.0022121	342	154602	rs139390142	0.0061	0.0059	0.0060	0.0062	0.0075	0.0060	0.0059	0.0064	0.0063	0.0012	0.0041	0.0201	0	0.0039	0.0075	0.0065	0.0061	0.0027	0.0047	0.0047	0.0047	0.0047	0.0072	0.0044	0.0043	0.0067	0.0065	0.0012	0	0.0039	0.0199	0	0.0024	0.0034	0.0072	0.0057	0.0019	0.168	0.32453	T	0.263	0.53072	T	0.0	0.48338	B	0.0	0.47649	B	0.050477	0.02012	N	2.185190	1	0.08975	N	0.895	0.22405	L	2.42	0.15376	T	-1.36	0.39314	N	0.258	0.34012	-1.0321	0.19777	T	0.028	0.11838	T	10	0.0042315125	0.00085	T	.	.	.	0.024	0.04979	.	.	0.0297737177859	0.01360	0.11916401117513939	0.11843	0.010001271138	0.00916	0.31797170639	0.13114	T	0.007476	0.06883	T	-0.574456	0.00208	T	-0.592393	0.13459	T	0.00502433616778397	0.00054	T	0.285571	0.05569	T	0.052537575	0.09814	0.03787648	0.03534	0.052537575	0.09814	0.03787648	0.03533	-5.756	0.44189	T	.	.	0.067	0.08081	B	.;.;.	.;.;.	1.204239	0.15965	12.23	0.85078001534977676	0.15672	0.03793	0.09119	N	AEFDBI	0.059950	0.11360	N	-1.06023668610223	0.07388	0.3430581	-1.17229213194693	0.06376	0.3067193	0.00719631206753447	0.11407	0.57788	0.32782	0	0.593476	0.48661	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.52	-4.19	0.03573	0.359000	0.19970	0.046000	0.13935	0.339000	0.19733	0.007000	0.17678	0.000000	0.08366	0.011000	0.09372	0.1664:0.4546:0.0:0.379	4.338	0.10536	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010722	0.010309	0.004573	0.007463	0.222222	0.030612	0.013072	0.012500	0.05	1062.43	42	chr16	88866449	.	T	C	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=400;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=1.41;SOR=0.722	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1260	9	0	1	0
chr16	89145370	89145370	G	C	exonic	ACSF3	.	nonsynonymous SNV	ACSF3:NM_001284316:exon7:c.G675C:p.E225D,ACSF3:NM_001127214:exon8:c.G1470C:p.E490D,ACSF3:NM_001243279:exon9:c.G1470C:p.E490D,ACSF3:NM_174917:exon9:c.G1470C:p.E490D	Combined malonic and methylmalonic aciduria	0	1508	14	0	0	14	0.00462046	.	.	YES	375624	Combined_malonic_and_methylmalonic_acidemia|not_provided	MONDO:MONDO:0013661,MedGen:C3280314,OMIM:614265,Orphanet:289504|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.750	0.123485323285	7.7e-05	0.000399361	0.0002	0	0	0	0	3.017e-05	0	0.0017	0.000207	32	154602	rs147538370	0.0002	0.0002	0.0001	0.0002	0.0033	0.0001	0.0001	0.0022	0.0018	2.987e-05	6.708e-05	0	0	0	0.0033	5.126e-05	0.0004	0.0014	9.845e-05	9.841e-05	6.422e-05	0.0001	0.0017	6e-05	4.874e-05	0.0008	0.0006	0	0	0	0	0	0	0	0.0001	0	0.0017	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000094	0.51296	D	0.127272	0.983711	0.40050	D	3.305	0.90531	M	-1.22	0.78752	T	-2.64	0.60982	D	0.955	0.96416	0.288	0.87365	D	0.599	0.85727	D	10	0.27069536	0.44603	T	0.123485	0.80466	D	0.750	0.91413	0.938	0.99130	0.482721949076	0.47902	0.9240531718369235	0.92382	0.288101061184	0.31214	0.649389743805	0.59899	T	0.396581	0.77859	T	0.0883325	0.63001	D	0.324028	0.89258	D	0.437109708786011	0.30323	T	0.969003	0.97142	D	0.78012085	0.82661	0.57322186	0.75281	0.78012085	0.82663	0.57322186	0.75282	-14.468	0.94478	D	0.5781481678380671	0.64505	0.955	0.90555	P	.;.;.;.;.	.;.;.;.;.	3.999771	0.58929	24.0	0.99852791191937929	0.93191	0.93234	0.57675	D	AEFDGBHCI	0.637426	0.61622	D	0.538204470214631	0.69366	5.346793	0.450613761952801	0.64757	4.738273	0.999986570142432	0.51787	0.743674	0.98306	0	0.702456	0.74545	0	0.635938	0.45252	0	0.584449	0.35598	0	.	.	4.69	4.69	0.58546	2.966000	0.48900	4.901000	0.45859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.1417:0.0:0.8583:0.0	9.515	0.38263	884	0.28482	AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;AMP-binding enzyme, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.003788	0.05	1464.43	36	chr16	89145370	.	G	C	1464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.33;DP=469;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.227;SOR=0.732	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr16	89223213	89223213	A	C	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_001201407:exon4:c.A174C:p.L58F,ZNF778:NM_001378881:exon4:c.A174C:p.L58F,ZNF778:NM_182531:exon4:c.A174C:p.L58F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000910065823908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160998634	8.209e-06	8.209e-06	5.445e-06	1.1e-05	4.497e-06	4.38e-06	3.46e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.174	0.23271	T	0.064	0.52060	T	0.996	0.68779	D	0.849	0.60615	P	.	.	.	.	1	0.19694	N	.	.	.	4.41	0.02196	T	-2.6	0.69357	D	0.109	0.09490	-0.9860	0.33590	T	0.011	0.04274	T	9	0.18107283	0.33321	T	9.1E-4	0.00866	T	0.049	0.13647	0.507	0.60232	0.470072546239	0.46634	0.02576230043257849	0.02527	0.0190931184289	0.01861	0.231064796448	0.02048	T	0.02089	0.16365	T	-0.232802	0.16279	T	-0.572181	0.15251	T	0.847327351570129	0.49937	D	0.119088	0.00917	T	0.12687463	0.29705	0.14142488	0.33679	0.12687463	0.29705	0.14142488	0.33678	-7.04	0.54325	T	.	.	0.199	0.42170	B	.;.;.	.;.;.	1.356920	0.17655	13.29	0.99641406888843054	0.76695	0.01024	0.03847	N	AEFBI	0.027721	0.02315	N	-0.390834634626758	0.25795	1.40292	-0.598888968988773	0.19521	1.04777	0.00229404298618226	0.09302	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.65	0.502	0.16138	-0.347000	0.07799	-0.773000	0.07487	0.751000	0.87719	0.010000	0.18352	0.000000	0.08366	0.786000	0.37147	0.497:0.3032:0.1997:0.0	2.365	0.04053	819	0.41190	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2237.43	33	chr16	89223213	.	A	C	2237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=490;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.351;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1084:.	9	0	1	0
chr16	89227184	89227184	G	A	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.G812A:p.R271H,ZNF778:NM_001201407:exon7:c.G896A:p.R299H,ZNF778:NM_001378881:exon7:c.G896A:p.R299H	.	432	1076	14	0	0	14	0.00646353	.	.	.	2817990	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.097	0.000700706001017	0.0023	0.00139776	0.0024	0.0008	0.0020	0.0002	0	0.0036	0.0022	0.0008	0.0024321	376	154602	rs183870297	0.0035	0.0035	0.0036	0.0035	0.0111	0.0035	0.0034	0.0089	0.0081	0.0010	0.0024	0.0029	0.0002	7.492e-05	0.0111	0.0040	0.0043	0.0015	0.0026	0.0026	0.0027	0.0026	0.0042	0.0024	0.0023	0.0034	0.0033	0.0010	0	0.0042	0.0040	0.0008	0	0.0068	0.0038	0.0024	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.935	0.00016	N	2.63	0.12884	T	5.76	0.00011	N	0.058	0.02964	-0.9371	0.43072	T	0.005	0.01833	T	9	0.005420834	0.00119	T	7.01E-4	0.00435	T	0.097	0.27909	.	.	0.136095386433	0.13204	0.015147297876536781	0.01470	0.00435782311993	0.00387	0.393539071083	0.24167	T	0.004793	0.04206	T	-0.685007	0.00045	T	-0.754823	0.03301	T	0.00479767548091291	0.00051	T	0.245875	0.03603	T	0.012219345	0.00029	0.023916466	0.00405	0.012219345	0.00029	0.023916466	0.00405	-0.142	0.00517	T	.	.	0.074	0.17275	B	.;.;.	.;.;.	-0.372896	0.02317	0.246	0.72451221620821593	0.09978	0.00109	0.00694	N	AEFBCI	0.011613	0.00106	N	-1.5327999540654	0.01638	0.07161176	-1.43926126578857	0.02868	0.132767	0.272703661646599	0.18908	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	-0.143	0.12787	2.924000	0.48572	0.484000	0.18835	-0.076000	0.16278	0.148000	0.23625	0.000000	0.08366	0.001000	0.02609	0.7788:0.0:0.2212:0.0	4.470	0.11129	819	0.41190	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.005051	0.006793	0.005848	0.000000	0.008621	0.009146	0.007576	0.05	3087.43	163	chr16	89227184	.	G	A	3087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.069;DP=1492;ExcessHet=0;FS=0.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=1.07;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:147,0:147:99:.:.:0,120,1800:.	9	0	1	0
chr16	89227697	89227697	C	T	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.C1325T:p.T442I,ZNF778:NM_001201407:exon7:c.C1409T:p.T470I,ZNF778:NM_001378881:exon7:c.C1409T:p.T470I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000979437885762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271311452	1.026e-05	1.026e-05	8.167e-06	1.238e-05	7.194e-06	6.16e-06	4.89e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.387	0.10945	T	1.0	0.01155	T	0.129	0.33330	B	0.079	0.29395	B	.	.	.	.	0.999134	0.21587	N	0.325	0.10370	N	2.66	0.12575	T	-0.1	0.08495	N	0.073	0.04668	-0.9780	0.35458	T	0.010	0.03856	T	9	0.04801321	0.04194	T	9.79E-4	0.01026	T	0.012	0.01476	0.425	0.47021	0.206339911435	0.20273	0.006781917739386643	0.00645	0.0211170378769	0.02089	0.378298938274	0.22014	T	0.001409	0.00874	T	-0.265819	0.12227	T	-0.619607	0.11216	T	0.093671787738584	0.11647	T	0.368163	0.10783	T	0.024969794	0.01384	0.03207186	0.01886	0.024969794	0.01384	0.03207186	0.01886	-3.975	0.27040	T	.	.	0.343	0.56078	A	.;.;.	.;.;.	0.121630	0.05188	1.704	0.76453344966059789	0.11474	0.00186	0.01083	N	AEFBHCI	0.028090	0.02410	N	-1.21715616607609	0.04751	0.2150762	-1.24231820359867	0.05246	0.2494891	0.0599830717582301	0.15181	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	0.091	0.13774	-0.397000	0.07329	-20.000000	0.00162	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.0:0.4951:0.0:0.5049	3.733	0.08028	819	0.41190	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1677.43	118	chr16	89227697	.	C	T	1677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.776;DP=943;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.25;SOR=0.661	GT:AD:DP:GQ:PL	0/0:71,0:71:99:0,120,1800	9	0	1	0
chr16	89282600	89282600	C	A	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.G3942T:p.E1314D,ANKRD11:NM_013275:exon9:c.G3942T:p.E1314D,ANKRD11:NM_001256182:exon10:c.G3942T:p.E1314D	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	937662	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00863231827294	.	.	8.249e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs767698081	1.847e-05	1.847e-05	1.361e-05	2.338e-05	0.0002	1.265e-05	1.084e-05	6.246e-05	4.757e-05	0	4.472e-05	0	0	0	0.0002	1.079e-05	3.311e-05	0.0001	1.969e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.532e-05	0	0	0	0	1.47e-05	0	0.0002	0.78	0.03289	T	0.525	0.10281	T	0.001	0.07471	B	0.002	0.06944	B	0.060169	0.22268	N	0.473148	0.794679	0.29185	N	0.28	0.10031	N	1.36	0.34452	T	0.16	0.05217	N	0.082	0.05799	-1.0168	0.24755	T	0.028	0.11838	T	10	0.012351036	0.00266	T	0.008632	0.22804	T	0.029	0.06676	0.106	0.01810	0.176862962021	0.17281	0.002579631488770286	0.00239	0.0778072030269	0.08756	0.297510623932	0.10031	T	0.069671	0.33768	T	-0.521589	0.00431	T	-0.784349	0.02325	T	0.0221469744222066	0.00925	T	0.739826	0.35853	T	0.017786853	0.00303	0.033841945	0.02348	0.017786853	0.00302	0.033841945	0.02348	-3.225	0.12788	T	0.0804013330259886	0.04053	0.071	0.03849	B	.;.;.	.;.;.	-0.172659	0.03232	0.543	0.93224311905295432	0.22903	0.17664	0.19935	N	AEFDBHCI	0.073348	0.14667	N	-1.49962397501451	0.01853	0.08126657	-1.46863069369731	0.02606	0.1201218	0.990565564580985	0.32195	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.21	-5.26	0.02559	-2.250000	0.01269	-0.571000	0.08426	-2.063000	0.00412	0.000000	0.06391	0.003000	0.18671	0.016000	0.10718	0.0813:0.5885:0.2505:0.0797	11.041	0.47050	819	0.41190	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2616.43	177	chr16	89282600	.	C	A	2616.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.586;DP=987;ExcessHet=0;FS=0.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.63;SOR=0.619	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1274	9	0	1	0
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T,ANKRD11:NM_013275:exon9:c.T2381C:p.I794T,ANKRD11:NM_001256182:exon10:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3802387	KBG_syndrome	MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050,Orphanet:2332	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	511.05	100	chr16	89284161	.	A	G	511.05	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.69;DP=875;ExcessHet=1.5895;FS=276.627;InbreedingCoeff=-0.4635;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=0.605;SOR=9.044	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:61,0:61:0:.:.:0,0,1238:.	2	0	4	4
chr16	89635963	89635963	G	A	exonic	DPEP1	.	nonsynonymous SNV	DPEP1:NM_001128141:exon3:c.G160A:p.E54K,DPEP1:NM_004413:exon3:c.G160A:p.E54K	.	10	1511	1	0	0	1	0.000330797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00427051365759	.	0.000199681	8.647e-06	0	0	0	0	1.567e-05	0	0	1.29e-05	2	154602	rs543287105	6.165e-06	6.156e-06	1.363e-06	1.102e-05	2.987e-05	2.9e-06	2.1e-06	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	2.699e-06	4.971e-05	2.32e-05	2.627e-05	2.625e-05	2.571e-05	2.686e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.412e-05	0	0	0.922	0.02401	T	0.919	0.02891	T	0.002	0.09854	B	0.001	0.04355	B	0.003095	0.00938	N	3.785520	1	0.08975	N	0.58	0.15352	N	1.98	0.21865	T	0.11	0.05706	N	0.239	0.26957	-1.0048	0.28517	T	0.019	0.07753	T	10	0.02837187	0.00970	T	0.004271	0.10341	T	0.055	0.15663	0.426	0.47185	0.0138822411134	0.00435	0.5320848440043381	0.53133	0.0177054203931	0.01731	0.278299212456	0.07256	T	0.008936	0.20067	T	-0.320303	0.06872	T	-0.59724	0.13045	T	0.0264043073295191	0.01461	T	0.491551	0.15238	T	0.12942885	0.30229	0.055125687	0.09611	0.12942885	0.30229	0.055125687	0.09610	-3.591	0.17727	T	.	.	0.083	0.10642	B	.;.;.;.;.	.;.;.;.;.	-1.437322	0.00334	0.006	0.51216746964292315	0.04523	0.01529	0.05035	N	AEFDGBI	0.139843	0.26157	N	-2.08727219272989	0.00137	0.005847158	-2.17738951095074	0.00126	0.005529028	0.999999998915971	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.25	-10.5	0.00234	-4.847000	0.00208	-8.449000	0.00968	-1.777000	0.00657	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3515:0.3746:0.0956:0.1783	2.740	0.04929	814	0.42100	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2245.43	35	chr16	89635963	.	G	A	2245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.422;DP=521;ExcessHet=0;FS=3.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.692;SOR=0.496	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr16	89746685	89746685	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon35:c.C3412G:p.L1138V,FANCA:NM_001286167:exon35:c.C3412G:p.L1138V	Fanconi anemia, complementation group A, Autosomal recessive	0	1499	23	0	0	23	0.00761337	.	.	YES	138004	not_specified|Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.435	0.0864465144465	0.0003	0.00179712	0.0015	0.0006	0.0008	0	0	0.0003	0.0056	0.0089	0.001326	205	154602	rs138417003	0.0008	0.0008	0.0005	0.0011	0.0105	0.0008	0.0008	0.0100	0.0097	0.0006	0.0007	0	2.519e-05	1.874e-05	0.0078	0.0001	0.0010	0.0105	0.0007	0.0007	0.0004	0.0010	0.0106	0.0006	0.0005	0.0083	0.0074	0.0007	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0106	0.185	0.22833	T	0.208	0.27943	T	0.911	0.50336	P	0.293	0.40773	B	0.000082	0.51296	D	0.000000	0.917715	0.36587	D	1.795	0.47270	L	-2.07	0.86010	D	-1.66	0.39692	N	0.262	0.29659	0.454	0.89900	D	0.696	0.89514	D	10	0.011628985	0.00253	T	0.086447	0.74739	D	0.435	0.74022	.	.	0.885146591904	0.88401	0.3403457598282565	0.33947	.	.	0.380156219006	0.22279	T	0.203767	0.56233	T	-0.157841	0.27092	T	0.00746071	0.70819	D	0.0427076806060103	0.04183	T	0.825817	0.52087	T	0.10365021	0.24501	0.110330895	0.26602	0.09620536	0.22656	0.12098502	0.29192	-4.12	0.25584	T	0.4952418725555626	0.57140	0.145	0.32420	B	.;.	.;.	2.563202	0.33199	19.27	0.91055926982107338	0.20308	0.90119	0.51049	D	AEFGBCI	0.237627	0.35988	N	0.245120952388785	0.53399	3.508808	0.205450259431287	0.50149	3.210049	0.998533127528051	0.37148	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	3.067000	0.49706	7.383000	0.58465	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:0.1531:0.8469:0.0	13.825	0.62839	689	0.59000	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009063	0.005051	0.010870	0.011696	0.000000	0.008621	0.003049	0.015152	0.05	1318.43	36	chr16	89746685	.	G	C	1318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.334;DP=445;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.224;SOR=0.516	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1378	9	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.2	2415.55	34	chr16	89767168	.	G	C	2415.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.052;DP=368;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=0.371;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1051	7	1	2	0
chr16	89770246	89770246	C	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon25:c.G2236T:p.A746S,FANCA:NM_001286167:exon25:c.G2236T:p.A746S	Fanconi anemia, complementation group A, Autosomal recessive	2	1513	7	0	0	7	0.00230795	.	.	YES	342977	Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided|FANCA-related_disorder	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.374	0.101411964741	.	0.000399361	0.0013	0	0.0009	0	0	0.0002	0	0.0044	0.0003816	59	154602	rs575108446	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	0	2.584e-05	0	0	0	0.0018	5.663e-05	0.0003	0.0032	0.0002	0.0002	0.0001	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	2.407e-05	0.0088	0	0	0	0	0	8.822e-05	0	0.0046	0.094	0.34800	T	0.368	0.17640	T	0.991	0.64070	D	0.734	0.55432	P	0.006820	0.31785	N	0.258804	0.931221	0.27052	N	2.595	0.75868	M	-2.03	0.85613	D	-1.58	0.38151	N	0.507	0.57604	0.226	0.86353	D	0.641	0.87442	D	10	0.017692685	0.00379	T	0.101412	0.77427	D	0.374	0.69273	.	.	0.848377370426	0.84692	0.18838922495874405	0.18756	.	.	0.439378619194	0.30491	T	0.360636	0.72685	T	-0.276577	0.11034	T	-0.172482	0.57216	T	0.0988314533091084	0.12228	T	0.858114	0.57479	D	0.1316803	0.30686	0.091280915	0.21453	0.10534849	0.24908	0.09300635	0.21946	-5.255	0.43255	T	0.8429165523238975	0.91100	0.240	0.47912	B	.;.	.;.	4.078100	0.60640	24.2	0.99523908714592113	0.69407	0.90058	0.50943	D	AEFDBI	0.154209	0.27920	N	0.415953226182305	0.62299	4.443546	0.354177331739331	0.58759	4.04856	0.854307646848187	0.25103	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.79	3.75	0.42236	1.251000	0.32465	6.028000	0.52885	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.442000	0.27716	0.0:0.7322:0.2678:0.0	10.004	0.41118	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004128	0.000000	0.002740	0.006098	0.000000	0.008621	0.003205	0.007634	0.05	942.43	34	chr16	89770246	.	C	A	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.456;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=-0.116;SOR=0.697	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1222	9	0	1	0
chr16	89779944	89779944	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon18:c.C1640T:p.A547V,FANCA:NM_001286167:exon18:c.C1640T:p.A547V	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1335130	Fanconi_anemia|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.589	0.312192026379	.	.	0.0001	0	0	0	0	0	0	0.0010	0.0001164	18	154602	rs550821697	6.909e-05	6.909e-05	2.995e-05	0.0001	0.0012	5.78e-05	5.391e-05	0.0010	0.0009	0	0	0	0	0	0	0	1.656e-05	0.0012	5.255e-05	5.253e-05	1.284e-05	9.412e-05	0.0017	2.557e-05	1.83e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000018	0.62929	D	0.000000	0.999881	0.50402	D	2.865	0.83145	M	-2.28	0.87591	D	-3.02	0.62630	D	0.769	0.79696	0.739	0.93653	D	0.793	0.92990	D	10	0.5747272	0.65515	D	0.312192	0.91219	D	0.589	0.83582	0.171	0.07655	0.961536280717	0.96112	0.5549498151830777	0.55421	.	.	0.472491562366	0.35023	T	0.588592	0.86637	D	0.103113	0.64627	D	0.318991	0.89048	D	0.582085132598877	0.35699	D	0.908809	0.73262	D	0.3115217	0.53917	0.32437226	0.58362	0.3115217	0.53918	0.32437226	0.58361	-10.966	0.80365	D	0.5848694286794677	0.65167	0.310	0.53755	B	.;.	.;.	4.316021	0.66020	24.9	0.99869804375651328	0.94726	0.98189	0.80377	D	AEFBI	0.722484	0.67240	D	0.6016340963063	0.73278	5.940077	0.478811205389212	0.66588	4.971669	0.999999714183396	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	5.37	5.37	0.76949	7.488000	0.80254	11.600000	0.93469	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.355000	0.25773	0.0:0.0:1.0:0.0	17.731	0.88285	620	0.66037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1029.43	33	chr16	89779944	.	G	A	1029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=388;ExcessHet=0;FS=2.903;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=2.21;SOR=0.972	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1294	9	0	1	0
chr16	89815956	89815956	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon2:c.C110T:p.P37L,FANCA:NM_001018112:exon2:c.C110T:p.P37L,FANCA:NM_001286167:exon2:c.C110T:p.P37L,FANCA:NM_001351830:exon2:c.C110T:p.P37L	Fanconi anemia, complementation group A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0690200946418	.	.	8.246e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs754642453	2.052e-06	2.052e-06	0	4.125e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.994e-07	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.43393	T	0.175	0.69154	T	0.693	0.41684	P	0.248	0.38946	B	0.242212	0.15688	N	0.573404	0.999999	0.08975	N	1.955	0.52871	M	1.12	0.38718	T	-4.04	0.93475	D	0.207	0.24758	-1.0071	0.27819	T	0.106	0.38734	T	10	0.12012324	0.22746	T	0.06902	0.70614	D	0.103	0.29403	0.276	0.22845	0.533662478252	0.53015	0.031344347939177085	0.03083	.	.	0.411542087793	0.26670	T	0.37385	0.73777	T	-0.155409	0.27467	T	-0.461011	0.26488	T	0.340841442346573	0.26657	T	0.759324	0.38363	T	0.061518177	0.12748	0.13937199	0.33255	0.061518177	0.12747	0.13937199	0.33254	-2.714	0.08221	T	0.3560204864494066	0.45287	0.110	0.38747	B	.;.;.;.;.;.	.;.;.;.;.;.	1.682101	0.21437	15.20	0.85476564693953339	0.15917	0.04758	0.10464	N	AEFDBHCI	0.100721	0.20246	N	-0.62570224574899	0.18175	0.9414887	-0.6636260208936	0.17874	0.9523116	0.999999402718955	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.665054	0.64577	0	.	.	5.47	4.52	0.54797	1.293000	0.32959	4.677000	0.44304	0.673000	0.70640	0.003000	0.16062	0.981000	0.30433	0.367000	0.26044	0.0909:0.0:0.9091:0.0	10.316	0.42916	588	0.69043	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1477.43	34	chr16	89815956	.	G	A	1477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.027;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.159;SOR=0.668	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	9	0	1	0
chr16	89919458	89919458	G	A	exonic	MC1R	.	nonsynonymous SNV	MC1R:NM_002386:exon1:c.G200A:p.R67Q	.	0	1507	15	0	0	15	0.00495213	.	.	.	326896	MC1R-related_disorder|Melanoma,_cutaneous_malignant,_susceptibility_to,_5|Tyrosinase-positive_oculocutaneous_albinism|SKIN/HAIR/EYE_PIGMENTATION,_VARIATION_IN,_2|Increased_analgesia_from_kappa-opioid_receptor_agonist,_female-specific|not_provided	.|MONDO:MONDO:0013133,MedGen:C2751295,OMIM:613099,Orphanet:618|MONDO:MONDO:0008746,MedGen:C0268495,OMIM:203200,Orphanet:79432|MedGen:C1849452,OMIM:266300|MedGen:C2751296,OMIM:613098|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.070	0.0156829568761	0.0002	0.00139776	0.0009	0.0002	0	0.0094	0	0.0001	0	0.0012	0.0007697	119	154602	rs34090186	0.0004	0.0004	0.0004	0.0004	0.0090	0.0004	0.0004	0.0082	0.0079	0.0001	4.473e-05	0	0.0090	0	0.0024	7.645e-05	0.0006	0.0010	0.0003	0.0003	0.0003	0.0004	0.0070	0.0003	0.0002	0.0052	0.0046	4.81e-05	0	6.538e-05	0	0.0070	0	0	7.351e-05	0	0.0019	0.041	0.91255	D	0.027	0.79402	D	0.744	0.43069	P	0.248	0.38946	B	0.001733	0.38161	U	0.000000	0.703622	0.33447	D	2.01	0.54746	M	4.09	0.02973	T	-2.21	0.49684	N	0.271	0.39457	-0.9628	0.38645	T	0.011	0.04227	T	9	0.010247439	0.00229	T	0.015683	0.36546	T	0.070	0.20419	.	.	0.63219663047	0.62918	0.29869522478087734	0.29782	0.0272794671194	0.02785	.	.	.	0.226018	0.59092	T	-0.438398	0.01322	T	-0.394543	0.34021	T	0.0169585880314255	0.00446	T	0.608539	0.27241	T	0.20165548	0.42184	0.16458961	0.38120	0.20165548	0.42184	0.16458961	0.38119	-6.062	0.46795	T	0.2226561808554937	0.30045	0.092	0.16713	B	.;.;.;.	.;.;.;.	3.551334	0.49927	22.9	0.99884370448600013	0.95970	0.72642	0.35549	D	AEFDBCI	0.486339	0.52555	N	0.0354521486544569	0.43473	2.639612	0.0350683302984734	0.41355	2.483226	0.999999909591657	0.74766	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.655142	0.61905	0	.	.	4.86	2.86	0.32427	3.044000	0.49520	0.606000	0.19981	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.940000	0.48062	0.2491:0.0:0.7509:0.0	8.354	0.31480	616	0.66398	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	1793.43	38	chr16	89919458	.	G	A	1793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.553;DP=526;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.22;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1169	9	0	1	0
chr16	89965923	89965923	A	G	exonic	DEF8	.	nonsynonymous SNV	DEF8:NM_001242817:exon12:c.A1136G:p.Q379R,DEF8:NM_001242819:exon12:c.A1265G:p.Q422R,DEF8:NM_001242816:exon13:c.A1286G:p.Q429R,DEF8:NM_001242818:exon13:c.A1316G:p.Q439R,DEF8:NM_207514:exon13:c.A1499G:p.Q500R,DEF8:NM_001242820:exon14:c.A1316G:p.Q439R	.	416	1094	12	0	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0172251356361	.	0.000199681	0.0009	0.0001	0.0003	0	0	0.0002	0.0024	0.0052	0.0006856	106	154602	rs202055951	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0040	2.987e-05	0.0004	0	0	0	0.0042	0.0001	0.0006	0.0045	0.0003	0.0003	0.0003	0.0004	0.0050	0.0002	0.0002	0.0034	0.0029	9.629e-05	0.0099	6.536e-05	0	0	0	0.0034	0.0001	0.0005	0.0050	0.042	0.44029	D	0.088	0.41405	T	0.001	0.35719	B	0.001	0.29521	B	0.001306	0.39449	N	0.170753	0.94986	0.38926	D	2.25	0.63811	M	0.92	0.91956	T	-1.06	0.27669	N	0.106	0.15749	-1.0579	0.12286	T	0.080	0.31705	T	10	0.005384147	0.00118	T	0.017225	0.38843	T	0.043	0.11576	.	.	0.564579235405	0.56121	0.45647020073458555	0.45565	0.602164739039	0.55238	0.399929523468	0.25058	T	0.009299	0.08472	T	-0.275869	0.11111	T	-0.168502	0.57579	T	0.0350807525866559	0.02822	T	0.756024	0.37907	T	0.08549143	0.19833	0.10329579	0.24781	0.08549143	0.19832	0.10329579	0.24781	-5.914	0.49196	T	.	.	0.090	0.12560	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551989	0.33031	19.22	0.99031935297554652	0.50830	0.76238	0.37376	D	AEFDBI	0.234281	0.35707	N	-0.19890250793686	0.33179	1.879528	-0.0898632112949158	0.35808	2.076101	0.785460660593361	0.23922	0.787689	0.99735	0	0.709663	0.81188	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.44	3.32	0.37134	3.122000	0.50139	3.591000	0.39190	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.8103:0.0:0.1897:0.0	7.729	0.27941	633	0.64743	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	751.43	33	chr16	89965923	.	A	G	751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.228;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=1.16;SOR=0.654	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	9	0	1	0
chr16	90075371	90075371	T	C	exonic	PRDM7	.	nonsynonymous SNV	PRDM7:NM_001098173:exon3:c.A173G:p.Y58C	.	414	1105	3	0	0	3	0.00135563	.	.	.	3377911	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.00128024451032	.	.	0.0002	0	0.0003	0	0	0.0002	0.0011	0.0004	0.0001746	27	154602	rs773645588	8.893e-05	8.893e-05	8.576e-05	9.213e-05	0.0007	7.622e-05	7.167e-05	0.0003	0.0003	0	0.0003	0.0015	0	0	0.0007	2.068e-05	0.0003	0.0004	8.532e-05	8.529e-05	7.707e-05	9.393e-05	0.0002	4.952e-05	3.958e-05	2.257e-05	9.06e-06	0	0	0.0001	0.0014	0	0	0.0068	4.41e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.23450	N	2.39	0.68882	M	4.26	0.02538	T	-5.05	0.82700	D	0.758	0.75650	-1.0433	0.16324	T	0.024	0.10194	T	8	0.15138447	0.28614	T	0.00128	0.01759	T	0.206	0.49396	.	.	0.443695250439	0.43992	0.5313617407557042	0.53060	0.383998167161	0.39712	0.889398992062	0.95185	D	0.072015	0.34349	T	-0.211907	0.19111	T	-0.231648	0.51612	T	0.204785687884947	0.20677	T	0.762524	0.38803	T	0.4575625	0.64519	0.42012677	0.65985	0.4575625	0.64520	0.42012677	0.65985	-7.155	0.55157	T	.	.	0.181	0.43421	B	.;.	.;.	3.547533	0.49856	22.8	0.98624029944435421	0.43812	0.11819	0.16882	N	AEBI	0.050947	0.08953	N	-0.100443059371859	0.37373	2.173421	-0.340099652266596	0.26816	1.483755	0.17048313944599	0.17728	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.67	1.67	0.23149	1.477000	0.35039	-0.267000	0.10379	0.614000	0.49286	0.902000	0.31475	0.000000	0.08366	0.892000	0.42986	0.0:0.0:0.0:1.0	5.488	0.16051	814	0.42100	Krueppel-associated box|Krueppel-associated box-related|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box-related|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1898.43	37	chr16	90075371	.	T	C	1898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.016;DP=547;ExcessHet=0;FS=1.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=-1.114;QD=9.64;ReadPosRankSum=-0.782;SOR=0.826	GT:AD:DP:GQ:PL	0/1:110,87:197:99:1910,0,2556	9	0	1	0
chr17	410397	410397	G	A	exonic	C17orf97	.	nonsynonymous SNV	C17orf97:NM_001013672:exon1:c.G55A:p.G19S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.012283901289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.457e-06	8.209e-06	0	2.949e-06	2.835e-05	2.4e-07	9e-08	.	.	0	0	0	2.835e-05	0	0	9.273e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.144	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.05	0.58176	T	-0.62	0.24898	N	0.041	0.01421	-0.9995	0.30058	T	0.090	0.34628	T	9	0.11368695	0.21366	T	0.012284	0.30711	T	0.115	0.32236	0.303	0.27164	0.171388866994	0.16791	0.0845521961178187	0.08389	0.417443729837	0.42361	.	.	.	.	.	.	-0.0931974	0.37549	T	-0.371648	0.36697	T	0.777226805686951	0.44878	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.40328	B	.;.;.	.;.;.	0.262162	0.06405	2.873	0.97656093040713365	0.35166	0.09867	0.15524	N	ALL	0.034367	0.04245	N	-0.88843369010633	0.11117	0.5347729	-1.16396471586481	0.06521	0.3141314	0.999999999999879	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	2.88	-5.77	0.02176	-0.641000	0.05531	-1.963000	0.04425	0.616000	0.49467	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.1018:0.2592:0.199:0.4401	2.194	0.03667	774	0.48577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	480.43	34	chr17	410397	.	G	A	480.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.645;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.385;SOR=0.791	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	9	0	1	0
chr17	410457	410457	C	T	exonic	C17orf97	.	nonsynonymous SNV	C17orf97:NM_001013672:exon1:c.C115T:p.R39C	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00829388124115	0.0003	0.000399361	0.0009	0	0	0	0	0.0022	0.0078	0.0003	0.0003622	56	154602	rs374291590	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0009	0.0009	0.0003	0.0009	0.0003	0	0.0035	0.0012	0.0010	0.0008	0.0001	0.0009	0.0009	0.0009	0.0010	0.0012	0.0008	0.0008	0.0010	0.0009	0.0002	0	0.0006	0.0003	0	0.0036	0	0.0012	0.0014	0	0.017	0.59928	D	0.015	0.61642	D	.	.	.	.	.	.	0.918677	0.08502	N	0.953536	0.999999	0.08975	N	.	.	.	1.36	0.51228	T	-0.48	0.23590	N	0.105	0.09914	-1.0208	0.23454	T	0.064	0.26667	T	10	0.0036291182	0.00066	T	0.008294	0.21954	T	0.027	0.05988	.	.	0.0846915920261	0.08053	0.03836534460788122	0.03782	0.472931182577	0.46528	.	.	.	.	.	.	-0.421278	0.01679	T	-0.423465	0.30680	T	0.0605574960472909	0.07255	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49245	B	.;.;.	.;.;.	0.567596	0.09362	6.142	0.96536086690499112	0.30168	0.06796	0.12820	N	AEFGBHCIJ	0.051395	0.09076	N	-1.60869795648668	0.01221	0.05312134	-1.73909781595368	0.00975	0.04367538	0.999999999999956	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.28	-6.57	0.01674	-2.760000	0.00856	-2.840000	0.03308	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0855:0.5305:0.1612:0.2228	5.792	0.17630	774	0.48577	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001663	0.000000	0.001515	0.000000	0.000000	0.000000	0.006803	0.000000	0.05	945.43	34	chr17	410457	.	C	T	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.276;DP=377;ExcessHet=0;FS=11.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=0.918;SOR=0.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	9	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1298.87	21	chr17	413815	.	C	*	1298.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.79;DP=367;ExcessHet=4.5998;FS=0.586;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=48.19;MQRankSum=-1.487;QD=7.69;ReadPosRankSum=-0.374;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:60:.:.:0,60,713:.	7	0	3	0
chr17	413822	413825	CCCG	-	exonic	C17orf97	.	frameshift deletion	C17orf97:NM_001013672:exon2:c.979_982del:p.P327Tfs*90	.	468	989	60	4	1	69	0.0332356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0027	0.0034	0.0011	0.0004	0.0018	0.0016	0.0059	0.0013907	215	154602	.	0.0007	0.0008	0.0006	0.0008	0.0023	0.0007	0.0007	0.0019	0.0017	0.0021	0.0007	0.0035	0.0023	0.0008	0.0011	0.0005	0.0011	0.0007	0.0005	0.0010	0.0006	0.0005	0.0015	0.0004	0.0004	0.0007	0.0006	0.0006	0	0.0011	0.0006	0.0002	0.0003	0	0.0004	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	101.87	27	chr17	413821	.	CCCCG	C	101.87	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.75;DP=368;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=57.01;MQRankSum=-3.309;QD=0.8;ReadPosRankSum=0.705;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,622:.	9	0	1	0
chr17	413821	413825	CCCCG	0	exonic	C17orf97	.	.	.	.	468	989	60	4	1	69	0.0332356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	101.87	27	chr17	413821	.	CCCCG	*	101.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.75;DP=368;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.01;MQRankSum=-3.309;QD=0.8;ReadPosRankSum=0.705;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,622:.	7	0	3	0
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1471.33	24	chr17	413822	.	C	*	1471.33	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.409;DP=372;ExcessHet=4.5998;FS=1.22;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=45.38;MQRankSum=1.5;QD=8.36;ReadPosRankSum=-0.803;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,622:.	6	0	4	0
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1474.36	25	chr17	413824	.	C	*	1474.36	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.338;DP=372;ExcessHet=4.5998;FS=1.203;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=44.73;MQRankSum=1.75;QD=8.19;ReadPosRankSum=-0.836;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,622:.	6	0	4	0
chr17	413827	413836	CCCCAAGGCC	-	exonic	C17orf97	.	frameshift deletion	C17orf97:NM_001013672:exon2:c.984_993del:p.P329Sfs*86	.	483	974	60	4	1	69	0.0337302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0028	0.0034	0.0011	0.0004	0.0018	0.0016	0.0060	.	.	.	.	0.0006	0.0007	0.0005	0.0007	0.0021	0.0006	0.0005	0.0017	0.0015	0.0018	0.0007	0.0032	0.0021	0.0007	0.0007	0.0004	0.0009	0.0006	0.0006	0.0010	0.0006	0.0006	0.0014	0.0005	0.0005	0.0008	0.0007	0.0007	0	0.0013	0.0007	0.0003	0.0004	0	0.0004	0.0012	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	89.87	25	chr17	413826	.	ACCCCAAGGCC	A	89.87	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.198;DP=374;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=57.43;MQRankSum=-3.639;QD=0.69;ReadPosRankSum=0.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,622:.	9	0	1	0
chr17	413826	413836	ACCCCAAGGCC	0	exonic	C17orf97	.	.	.	.	483	974	60	4	1	69	0.0337302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	89.87	25	chr17	413826	.	ACCCCAAGGCC	*	89.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.198;DP=374;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.43;MQRankSum=-3.639;QD=0.69;ReadPosRankSum=0.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:22,0:22:63:.:.:0,63,622:.	7	0	3	0
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1428.57	27	chr17	413831	.	A	*	1428.57	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.855;DP=385;ExcessHet=5.3821;FS=0.556;InbreedingCoeff=-0.4815;MLEAC=4;MLEAF=0.222;MQ=45.68;MQRankSum=0.554;QD=7.64;ReadPosRankSum=-1.636;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:23,0:23:0:.:.:0,0,154:.	5	0	4	1
chr17	413839	413854	CAAGGGCTTCCACCCC	-	exonic	C17orf97	.	frameshift deletion	C17orf97:NM_001013672:exon2:c.996_1011del:p.K333Tfs*80	.	529	930	58	4	1	67	0.0342679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0025	0.0035	0.0011	0.0004	0.0018	0.0016	0.0060	0.0013389	207	154602	.	0.0004	0.0006	0.0003	0.0004	0.0015	0.0004	0.0004	0.0011	0.0010	0.0013	0.0005	0.0026	0.0015	0.0006	0.0002	0.0003	0.0008	0.0004	0.0007	0.0010	0.0007	0.0007	0.0022	0.0005	0.0005	0.0009	0.0006	0.0008	0	0.0012	0.0004	0.0007	0.0007	0	0.0004	0.0006	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	71.87	38	chr17	413838	.	TCAAGGGCTTCCACCCC	T	71.87	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.84;DP=387;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=57.25;MQRankSum=-3.407;QD=0.52;ReadPosRankSum=0.427;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:63:.:.:0,63,945:.	9	0	1	0
chr17	413838	413854	TCAAGGGCTTCCACCCC	0	exonic	C17orf97	.	.	.	.	529	930	58	4	1	67	0.0342679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.87	38	chr17	413838	.	TCAAGGGCTTCCACCCC	*	71.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.84;DP=387;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.25;MQRankSum=-3.407;QD=0.52;ReadPosRankSum=0.427;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:63:.:.:0,63,945:.	7	0	3	0
chr17	532865	532865	T	C	exonic	VPS53	.	nonsynonymous SNV	VPS53:NM_018289:exon18:c.A1975G:p.I659V,VPS53:NM_001128159:exon19:c.A2062G:p.I688V,VPS53:NM_001366253:exon19:c.A2062G:p.I688V,VPS53:NM_001366254:exon20:c.A1468G:p.I490V	Pontocerebellar hypoplasia, type 2E, Autosomal recessive	433	1068	20	1	0	22	0.0101946	.	.	.	363728	Pontocerebellar_hypoplasia_type_2E|Microcephaly|not_provided	MONDO:MONDO:0014370,MedGen:C4014488,OMIM:615851,Orphanet:247198|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.036	.	0.0009	0.00519169	0.0035	0.0005	0.0030	0.0100	0	0.0014	0.0068	0.0124	0.0031824	492	154602	rs140376049	0.0018	0.0018	0.0016	0.0021	0.0108	0.0018	0.0018	0.0102	0.0100	0.0002	0.0029	0.0039	0.0050	0.0002	0.0104	0.0010	0.0026	0.0108	0.0018	0.0018	0.0016	0.0020	0.0137	0.0016	0.0016	0.0110	0.0101	0.0004	0	0.0033	0.0052	0.0068	9.423e-05	0.0102	0.0012	0.0024	0.0137	0.436	0.16683	T	0.525	0.14725	T	0.004	0.17989	B	0.011	0.22546	B	0.000005	0.62929	D	0.103872	0.999995	0.81001	D	1.025	0.25523	L	1.4	0.50459	T	-0.37	0.15178	N	0.344	0.43995	-1.0448	0.15884	T	0.099	0.36856	T	10	0.009616137	0.00217	T	.	.	.	0.036	0.09122	.	.	0.232513804876	0.22884	0.27455534500255907	0.27368	0.288955871697	0.31300	0.591659486294	0.51728	T	0.106667	0.41820	T	-0.465481	0.00908	T	-0.430376	0.29894	T	0.00606719036809914	0.00067	T	.	.	.	0.09081424	0.21262	0.14843798	0.35088	0.09562082	0.22507	0.14770514	0.34943	-6.417	0.49642	T	.	.	0.077	0.06803	B	.;.;.;.	.;.;.;.	2.567707	0.33263	19.29	0.98519920318753362	0.42447	0.96055	0.67329	D	AEFBI	0.580715	0.58101	D	-0.175878687463541	0.34142	1.945147	0.0143875825731752	0.40381	2.409062	0.99651892825105	0.34798	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	3.898000	0.55993	4.168000	0.42254	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.0:1.0	14.019	0.64063	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006743	0.005051	0.004076	0.003497	0.000000	0.017241	0.006135	0.007576	0.05	1144.43	36	chr17	532865	.	T	C	1144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.742;DP=394;ExcessHet=0;FS=2.878;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.127;SOR=0.446	GT:AD:DP:GQ:PL	0/1:33,54:87:99:1156,0,679	9	0	1	0
chr17	744916	744916	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G3127A:p.G1043S	.	.	.	.	.	.	.	.	.	.	.	2814643	not_provided|GEMIN4-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.072	0.00344471155881	0.0024	0.00279553	0.0008	0.0098	0.0002	0	0	0	0	0.0001	0.0007244	112	154602	rs180894698	0.0003	0.0003	0.0003	0.0002	0.0090	0.0002	0.0002	0.0082	0.0079	0.0090	0.0004	0	0	0	0	7.196e-06	0.0006	8.12e-05	0.0022	0.0022	0.0023	0.0022	0.0077	0.0020	0.0020	0.0071	0.0068	0.0077	0	0.0010	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.006209	0.32193	N	0.368343	1	0.08975	N	0.06	0.08197	N	3.55	0.04746	T	0.98	0.01447	N	0.038	0.01203	-0.9641	0.38389	T	0.004	0.01226	T	10	0.0049390793	0.00106	T	0.003445	0.07755	T	0.072	0.21020	.	.	0.17258766438	0.16869	0.05355334966229155	0.05297	0.129374146952	0.14584	0.327751874924	0.14595	T	0.006348	0.05784	T	-0.688302	0.00043	T	-0.755218	0.03287	T	0.00093135008145573	0.00009	T	0.224478	0.02928	T	0.033393458	0.03550	0.04834895	0.07162	0.033237748	0.03502	0.046210635	0.06391	-2.37	0.04952	T	.	.	0.075	0.05360	B	.;.	.;.	0.641653	0.10099	6.848	0.69377064655943232	0.08952	0.03866	0.09228	N	AEFDBCI	0.035048	0.04446	N	-1.10336279348504	0.06584	0.3034603	-0.914550976608859	0.11750	0.6005589	0.0395787770605876	0.14400	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	4.61	0.56724	0.434000	0.21212	3.426000	0.38284	-0.108000	0.15293	0.024000	0.20007	1.000000	0.68203	0.278000	0.23967	0.0:0.2493:0.0:0.7507	8.227	0.30732	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1850.43	34	chr17	744916	.	C	T	1850.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.467;DP=459;ExcessHet=0;FS=0.626;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=0.602;SOR=0.786	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1239	9	0	1	0
chr17	746331	746331	T	C	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.A1712G:p.N571S	.	424	1077	20	1	0	22	0.0101103	.	.	.	704357	GEMIN4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.295	.	0.0056	0.00559105	0.0048	0.0018	0.0030	0.0008	0.0011	0.0061	0.0011	0.006	0.0047218	730	154602	rs111822058	0.0059	0.0059	0.0059	0.0060	0.0116	0.0058	0.0058	0.0094	0.0086	0.0018	0.0040	0.0020	0.0003	0.0013	0.0116	0.0065	0.0067	0.0067	0.0043	0.0043	0.0042	0.0044	0.0085	0.0040	0.0039	0.0064	0.0057	0.0020	0.0088	0.0045	0.0020	0.0008	0.0004	0.0136	0.0062	0.0047	0.0085	0.028	0.46129	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.045268	0.999373	0.46831	D	2.535	0.73915	M	2.54	0.13916	T	-4.79	0.80595	D	0.226	0.28146	-1.1212	0.02257	T	0.064	0.26562	T	10	0.010183573	0.00228	T	.	.	.	0.295	0.61502	.	.	0.448696893172	0.44491	0.5651595224238298	0.56442	0.118032548597	0.13290	0.363972395658	0.19962	T	0.237833	0.60560	T	-0.488685	0.00661	T	-0.470733	0.25436	T	0.0870820286598924	0.10868	T	0.816218	0.47186	T	0.29135194	0.52118	0.18160953	0.41036	0.24770755	0.47751	0.18829678	0.42112	-2.841	0.08567	T	.	.	0.095	0.14797	B	.;.	.;.	1.978345	0.25134	16.65	0.99740898629905883	0.83482	0.93597	0.58653	D	AEFBCI	0.368896	0.45583	N	0.344629667983594	0.58455	4.018016	0.241704223935639	0.52180	3.394476	0.699258657378525	0.22677	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	4.76	0.60189	2.820000	0.47757	-0.138000	0.11547	0.609000	0.47794	1.000000	0.71638	0.001000	0.17328	0.223000	0.22544	0.0:0.0716:0.0:0.9284	11.176	0.47828	942	0.12992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.005435	0.008772	0.050000	0.000000	0.021341	0.003788	0.05	2409.43	138	chr17	746331	.	T	C	2409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.992;DP=1384;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PL	0/0:122,0:122:99:0,120,1800	9	0	1	0
chr17	782397	782397	C	T	exonic	MRM3	.	nonsynonymous SNV	MRM3:NM_018146:exon1:c.C19T:p.P7S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00213158894818	0.0022	0.00179712	0.0006	0.0074	8.999e-05	0	0	0	0	6.176e-05	0.0005433	84	154602	rs149975218	0.0002	0.0002	0.0002	0.0002	0.0068	0.0002	0.0002	0.0061	0.0058	0.0068	0.0002	0	0	1.881e-05	0.0002	2.698e-06	0.0004	3.478e-05	0.0017	0.0017	0.0017	0.0016	0.0059	0.0015	0.0014	0.0053	0.0051	0.0059	0	0.0005	0	0	0	0	0	0	0	0.663	0.04657	T	0.757	0.04686	T	0.0	0.02946	B	0.0	0.01387	B	0.025675	0.26048	N	0.434761	1	0.08975	N	.	.	.	2.49	0.14531	T	1.34	0.00900	N	0.079	0.05414	-1.0129	0.26007	T	0.030	0.12760	T	10	0.003394097	0.00059	T	0.002132	0.03962	T	0.011	0.01250	.	.	0.0611884634855	0.05136	0.5166758964729985	0.51590	0.137368942111	0.15488	0.336435705423	0.15903	T	0.001647	0.01075	T	-0.701631	0.00036	T	-0.777174	0.02539	T	0.00375992577822089	0.00040	T	0.257774	0.04077	T	0.023002513	0.01004	0.04317593	0.05311	0.023002513	0.01004	0.04317593	0.05310	-2.833	0.08491	T	.	.	0.076	0.06114	B	.	.	-0.262970	0.02785	0.379	0.78107815795577329	0.12158	0.00472	0.02260	N	ALL	0.136060	0.25659	N	-0.941263837541655	0.09890	0.4701268	-1.0473856296736	0.08762	0.4323634	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.31	-1.99	0.07047	-0.510000	0.06411	-0.990000	0.06682	-1.988000	0.00457	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1565:0.3861:0.3453:0.1121	3.809	0.08306	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2843.43	33	chr17	782397	.	C	T	2843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=1002;ExcessHet=0;FS=1.692;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.242;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1137:.	9	0	1	0
chr17	1229402	1229402	G	A	exonic	ABR	.	nonsynonymous SNV	ABR:NM_001322841:exon1:c.C229T:p.P77S,ABR:NM_001322842:exon1:c.C229T:p.P77S	.	1068	451	3	0	0	3	0.00331492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	.	.	.	.	.	.	.	.	0.0003842	10	26028	rs551274441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0002	0.0006	0.0109	0.0003	0.0003	0.0085	0.0077	0	0	0.0001	0	0	0	0	7.416e-05	0.0010	0.0109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061506927	0.00138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242376	0.03494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.21766	B	.	.	0.630158	0.09986	6.740	0.95945513352115352	0.28256	0.02118	0.06262	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999996274955	0.74766	0.11394	0.02926	0	0.090139	0.02499	0	0.125351	0.03401	0	0.166187	0.04126	0	0.0562671	0.13264	4.05	-7.62	0.01154	-0.084000	0.11233	0.170000	0.15507	-1.102000	0.01507	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1719:0.4314:0.3967	7.307	0.25629	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	173.73	9	chr17	1229402	.	G	A	173.73	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.83;DP=86;ExcessHet=0;FS=0;InbreedingCoeff=-0.0754;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=1.2;SOR=0.631	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,181	9	0	1	0
chr17	1649746	1649746	C	T	exonic	RILP	.	nonsynonymous SNV	RILP:NM_031430:exon1:c.G59A:p.G20E	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0267500157981	0.0007	0.000399361	0.0030	0.0009	0.0020	0	0.0050	0.0039	0.0053	0.0023	0.001533	237	154602	rs200942821	0.0023	0.0023	0.0022	0.0024	0.0051	0.0022	0.0022	0.0036	0.0031	0.0003	0.0014	0.0001	0	0.0034	0.0051	0.0025	0.0021	0.0020	0.0017	0.0017	0.0018	0.0016	0.0029	0.0016	0.0015	0.0026	0.0025	0.0003	0	0.0012	0	0.0002	0.0021	0	0.0029	0.0019	0.0012	0.13	0.26740	T	0.873	0.03286	T	0.115	0.26429	B	0.046	0.24676	B	0.095987	0.20097	N	0.474604	1	0.08975	N	1.75	0.45442	L	1.52	0.30669	T	-1.15	0.29525	N	0.178	0.19190	-1.0423	0.16621	T	0.043	0.18535	T	10	0.0074126422	0.00169	T	0.02675	0.49630	D	0.078	0.22779	.	.	0.418344901717	0.41449	0.27471084752371877	0.27384	0.973696937774	0.73468	0.77568846941	0.78278	T	0.001965	0.01375	T	-0.435148	0.01381	T	-0.401201	0.33243	T	0.0264772659402807	0.01470	T	.	.	.	0.059946362	0.12244	0.16074795	0.37425	0.059946362	0.12243	0.16074795	0.37424	-5.003	0.36872	T	.	.	0.179	0.38959	B	.	.	3.523493	0.49401	22.8	0.99408111539106003	0.63122	0.17999	0.20077	N	AEFGBHCIJ	0.187467	0.31476	N	-0.709590447180757	0.15752	0.7965744	-0.66076221653061	0.17945	0.956483	0.999999999936359	0.74766	0.437478	0.07067	0	0.159064	0.03852	3	0.606814	0.37721	0	0.249971	0.05119	0	.	.	4.71	2.64	0.30504	1.143000	0.31164	5.791000	0.49870	0.523000	0.23987	0.030000	0.20431	0.981000	0.30433	0.011000	0.09372	0.1218:0.6173:0.1774:0.0835	5.593	0.16591	571	0.70397	RH1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002047	0.000000	0.000000	0.006024	0.000000	0.008772	0.003165	0.000000	0.05	227.43	26	chr17	1649746	.	C	T	227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=239;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.123;SOR=0.859	GT:AD:DP:GQ:PL	0/0:22,0:22:54:0,54,810	9	0	1	0
chr17	1727213	1727213	C	T	exonic	WDR81	.	nonsynonymous SNV	WDR81:NM_001163809:exon1:c.C2254T:p.P752S	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, Autosomal recessive	0	1511	9	2	0	13	0.00428336	.	.	.	727020	not_provided|Cerebellar_ataxia,_intellectual_disability,_and_dysequilibrium_syndrome_2	MedGen:C3661900|MONDO:MONDO:0012430,MedGen:C2750234,OMIM:610185,Orphanet:1766	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0124618513485	.	0.000998403	0.0019	0	0	0	0	0.0014	0.0056	0.0031	0.0004916	76	154602	rs200781463	0.0015	0.0014	0.0014	0.0015	0.0054	0.0014	0.0014	0.0039	0.0034	0.0002	0.0010	0.0035	0	0.0008	0.0054	0.0015	0.0014	0.0021	0.0012	0.0012	0.0010	0.0013	0.0029	0.0010	0.0010	0.0018	0.0014	0.0002	0	0.0010	0.0043	0	0.0008	0.0034	0.0016	0.0019	0.0029	0.403	0.10378	T	0.227	0.25362	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.695	0.17993	N	0.8	0.48769	T	-0.34	0.12661	N	0.075	0.04913	-1.0340	0.19173	T	0.076	0.30492	T	6	0.005992919	0.00134	T	0.012462	0.31052	T	0.027	0.05988	.	.	0.446010312102	0.44222	0.1618985332002978	0.16110	0.462113211876	0.45742	0.283152282238	0.07936	T	0.012492	0.10973	T	-0.532944	0.00369	T	-0.54479	0.17829	T	0.0131296711042523	0.00231	T	0.672833	0.28129	T	0.061643362	0.12789	0.0661384	0.13507	0.061643362	0.12789	0.0661384	0.13506	-5.004	0.36883	T	.	.	0.104	0.18828	B	.	.	1.260675	0.16584	12.63	0.70272724247983298	0.09241	0.20108	0.20918	N	AEFBI	0.158121	0.28373	N	-0.346179257426131	0.27413	1.503801	-0.389701120661279	0.25303	1.390671	0.972692414297421	0.29392	0.631515	0.41029	0	0.697927	0.68747	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	5.62	4.61	0.56724	1.170000	0.31493	1.801000	0.28882	0.599000	0.40250	0.001000	0.13787	0.041000	0.21590	0.317000	0.24900	0.1451:0.4879:0.367:0.0	10.161	0.42024	665	0.61472	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006085	0.011111	0.004854	0.008333	0.000000	0.000000	0.000000	0.008197	0.05	759.43	61	chr17	1727213	.	C	T	759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.227;DP=479;ExcessHet=0;FS=3.264;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.233;SOR=0.594	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,100,1217	9	0	1	0
chr17	1827989	1827989	A	T	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon2:c.T6A:p.D2E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00668984705299	7.7e-05	.	3.306e-05	0	0	0	0	4.511e-05	0	6.071e-05	2.59e-05	4	154602	rs377632089	6.177e-06	6.156e-06	5.455e-06	6.908e-06	0.0005	2.91e-06	2.11e-06	0.0001	7.56e-05	0	0	0	0	0	0.0005	2.708e-06	1.661e-05	2.323e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.212	0.26549	T	0.325	0.33132	B	0.033	0.22329	B	0.000044	0.53742	D	0.162237	0.980181	0.25130	N	2.31	0.66127	M	2.79	0.35960	T	-0.98	0.25986	N	0.156	0.16168	-1.0315	0.19970	T	0.023	0.09878	T	10	0.1739003	0.32241	T	0.00669	0.17671	T	0.037	0.09474	0.163	0.06730	0.565612946506	0.56225	0.1309109239088927	0.13016	0.0750347424609	0.08415	0.486809045076	0.36996	T	0.006977	0.12223	T	-0.21056	0.19300	T	-0.439602	0.28854	T	0.114427894353867	0.13877	T	0.536546	0.22576	T	0.053121284	0.10005	0.054797854	0.09493	0.053121284	0.10004	0.054797854	0.09493	-2.709	0.07379	T	.	.	0.305	0.53347	B	.;.;.	.;.;.	1.764209	0.22436	15.62	0.96743684949780251	0.30935	0.57434	0.30376	D	AEFDBI	0.114237	0.22508	N	-0.29733650282649	0.29251	1.620477	-0.258068134609541	0.29494	1.652882	0.999693539149304	0.41870	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.63	2.37	0.28337	0.976000	0.29059	2.016000	0.30187	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.7873:0.0:0.2127:0.0	6.448	0.21087	787	0.46738	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	666.43	74	chr17	1827989	.	A	T	666.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=426;ExcessHet=0;FS=2.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.095;SOR=1.022	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr17	2039805	2039805	C	G	exonic	DPH1	.	nonsynonymous SNV	DPH1:NM_001346576:exon6:c.C326G:p.P109R,DPH1:NM_001346574:exon7:c.C746G:p.P249R,DPH1:NM_001346575:exon7:c.C713G:p.P238R,DPH1:NM_001383:exon7:c.C731G:p.P244R	Developmental delay with short stature, dysmorphic features, and sparse hair, Autosomal recessive	429	1068	25	0	0	25	0.0115687	.	.	.	715292	not_provided|DPH1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.508	0.0930625867412	0.0037	0.00299521	0.0051	0.0008	0.0020	0	0.0020	0.0070	0.0089	0.0060	0.0048318	747	154602	rs80150196	0.0052	0.0052	0.0051	0.0054	0.0071	0.0051	0.0051	0.0062	0.0061	0.0008	0.0023	0.0010	0	0.0040	0.0071	0.0057	0.0047	0.0067	0.0037	0.0037	0.0038	0.0035	0.0064	0.0034	0.0033	0.0049	0.0047	0.0008	0	0.0056	0.0014	0	0.0034	0.0102	0.0053	0.0033	0.0064	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.054132	1	0.81001	D	3.68	0.94442	H	0.85	0.47130	T	-8.67	0.97580	D	0.946	0.95725	-0.1012	0.80071	T	0.315	0.68451	T	10	0.07061556	0.10296	T	0.093063	0.76004	D	0.508	0.78848	.	.	0.702741401759	0.70016	0.8725920003565045	0.87225	0.59895004759	0.55043	0.538162469864	0.44186	T	0.633751	0.88682	D	-0.0244674	0.48214	T	0.197205	0.82975	D	0.108463703120588	0.13263	T	0.992201	0.97531	D	0.85482275	0.87694	0.8572672	0.91993	0.8915819	0.90644	0.8382441	0.90723	-10.153	0.74823	D	.	.	0.223	0.45433	B	.;.	.;.	5.088951	0.84970	28.5	0.99795850266812469	0.88106	0.90517	0.51758	D	AEFBCI	0.673786	0.63972	D	0.779499025026802	0.84809	8.392263	0.686683549755314	0.81367	7.510028	0.999999999999405	0.74766	0.732398	0.92422	0	0.697927	0.68747	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.66	4.66	0.57857	6.606000	0.74036	7.661000	0.64234	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:1.0:0.0:0.0	16.763	0.85377	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.002717	0.008772	0.000000	0.008621	0.006098	0.018939	0.05	1795.43	36	chr17	2039805	.	C	G	1795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.99;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.237;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1301	9	0	1	0
chr17	2041583	2041583	C	A	exonic	DPH1	.	nonsynonymous SNV	DPH1:NM_001346576:exon10:c.C784A:p.R262S,DPH1:NM_001346574:exon11:c.C1141A:p.R381S,DPH1:NM_001346575:exon11:c.C1108A:p.R370S,DPH1:NM_001383:exon11:c.C1189A:p.R397S	Developmental delay with short stature, dysmorphic features, and sparse hair, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0271421685229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.189	0.29639	T	0.418	0.35279	B	0.044	0.24394	B	0.013217	0.28915	N	0.289261	0.966592	0.38540	D	2.255	0.64187	M	1.47	0.45636	T	-1.25	0.31576	N	0.333	0.37405	-1.0699	0.09436	T	0.063	0.26244	T	10	0.16499117	0.30852	T	0.027142	0.49983	D	0.045	0.12272	0.275	0.22687	0.463843524616	0.46008	0.44002408774264185	0.43919	0.184290375964	0.20729	0.509209930897	0.40112	T	0.135465	0.46729	T	0.0246447	0.55005	T	-0.202376	0.54420	T	0.780357718467712	0.45072	D	0.645335	0.28483	T	0.17029801	0.37597	0.13070427	0.31401	0.17029801	0.37596	0.13070427	0.31400	-5.032	0.41321	T	.	.	0.128	0.30211	B	.;.	.;.	2.741659	0.35911	20.1	0.97556908316571966	0.34598	0.28186	0.23485	N	ALL	0.274206	0.38944	N	-0.351524356633	0.27215	1.491448	-0.367279254098146	0.25980	1.432091	0.999999999999501	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	5.01	5.01	0.66477	3.094000	0.49919	1.731000	0.28328	0.599000	0.40250	0.935000	0.32453	0.253000	0.23932	0.009000	0.08673	0.0:0.8418:0.1582:0.0	13.322	0.59875	340	0.86005	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1286.43	33	chr17	2041583	.	C	A	1286.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.033;DP=392;ExcessHet=0;FS=6.026;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=-1.159;SOR=0.223	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1665	9	0	1	0
chr17	2058827	2058827	C	T	exonic	HIC1	.	nonsynonymous SNV	HIC1:NM_001098202:exon2:c.C2194T:p.P732S,HIC1:NM_006497:exon2:c.C2137T:p.P713S	.	354	1167	1	0	0	1	0.000428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23341053685	.	.	0.0002	0	0	0	0	0.0005	0	0	1.29e-05	2	154602	rs780109649	0.0001	0.0001	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	3.69e-05	0	0	0	0	0.0005	0.0002	5.463e-05	2.885e-05	6.571e-05	6.567e-05	7.707e-05	5.381e-05	0.0002	3.517e-05	2.616e-05	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	7.351e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.915	0.65091	D	.	.	.	.	0.999942	0.51968	D	0.975	0.24501	L	2.38	0.17271	T	-3.16	0.64246	D	0.317	0.35727	-1.1090	0.03157	T	0.051	0.21806	T	9	0.24958584	0.42272	T	0.233411	0.88364	D	0.164	0.42212	0.239	0.17065	0.398133443147	0.39430	0.6123288270744487	0.61164	.	.	0.843891263008	0.88687	D	0.327529	0.69804	T	-0.258546	0.13070	T	-0.372492	0.36596	T	0.538022997926077	0.34031	D	0.735426	0.35200	T	0.2973237	0.52663	0.42238912	0.66141	0.2973237	0.52663	0.42238912	0.66141	-4.538	0.31382	T	.	.	0.329	0.65506	B	.;.;.	.;.;.	5.038265	0.83842	28.1	0.9987144856608936	0.94902	0.46189	0.27705	N	AEFDGBHCI	0.809473	0.73297	D	0.465499459006154	0.65087	4.778675	0.491953671415036	0.67454	5.086413	0.999999999999995	0.74766	0.460665	0.09802	0	0.52208	0.09955	0	0.606814	0.37721	0	0.636168	0.56350	0	.	.	4.56	4.56	0.55644	4.642000	0.61079	7.498000	0.59452	0.574000	0.29054	0.996000	0.39380	1.000000	0.68203	0.978000	0.57271	0.0:0.9112:0.0:0.0888	10.754	0.45427	324	0.86790	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	304.43	23	chr17	2058827	.	C	T	304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.275;DP=192;ExcessHet=0;FS=0;InbreedingCoeff=-0.0528;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=-0.755;SOR=0.446	GT:AD:DP:GQ:PL	0/0:17,0:17:36:0,36,540	9	0	1	0
chr17	2324278	2324278	G	A	exonic	TSR1	.	nonsynonymous SNV	TSR1:NM_018128:exon15:c.C2333T:p.T778I	.	420	1087	14	1	0	16	0.00730594	.	.	.	3210534	TSR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.328	0.015573889284	.	0.00259585	0.0023	9.775e-05	0.0017	0	0.0012	0.0026	0.0013	0.0060	0.0020957	324	154602	rs141644586	0.0017	0.0018	0.0016	0.0018	0.0054	0.0017	0.0016	0.0050	0.0048	0.0003	0.0014	0.0039	0	0.0012	0.0047	0.0015	0.0024	0.0054	0.0017	0.0017	0.0016	0.0017	0.0075	0.0015	0.0014	0.0055	0.0049	0.0003	0	0.0022	0.0032	0.0002	0.0010	0.0102	0.0020	0.0033	0.0075	0.04	0.42199	D	0.036	0.52060	D	0.781	0.44300	P	0.334	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.71	0.12055	T	-4.67	0.79571	D	0.674	0.68169	-0.9718	0.36819	T	0.022	0.09513	T	10	0.012049884	0.00261	T	0.015574	0.36375	T	0.328	0.65026	.	.	0.517104213562	0.51352	0.7157283914635781	0.71515	0.521668995998	0.49930	0.705295443535	0.67911	T	0.168169	0.51508	T	-0.28306	0.10346	T	-0.178557	0.56657	T	0.0806617079686739	0.10072	T	0.957504	0.83996	D	0.66671205	0.76257	0.52545553	0.72583	0.66671205	0.76258	0.52545553	0.72583	-9.113	0.68421	D	.	.	0.317	0.54279	B	.	.	3.791724	0.54583	23.5	0.99897748403918818	0.97048	0.97204	0.73304	D	AEFDBCI	0.898383	0.84161	D	0.305920468281092	0.56453	3.80992	0.43935198592711	0.64038	4.649846	0.999999998703384	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.92	4.92	0.64147	9.842000	0.98352	8.643000	0.77902	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.098	0.86515	648	0.63242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007661	0.000000	0.005435	0.000000	0.000000	0.017241	0.021341	0.007576	0.05	974.43	38	chr17	2324278	.	G	A	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.35;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.624;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,932:.	9	0	1	0
chr17	2373007	2373007	G	A	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon15:c.G1708A:p.E570K,SGSM2:NM_001346700:exon15:c.G1708A:p.E570K,SGSM2:NM_014853:exon16:c.G1843A:p.E615K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.0170720139371	.	.	2.332e-05	0	0	0	0	4.505e-05	0	0	6.5e-06	1	154602	rs773126868	1.107e-05	1.163e-05	1.236e-05	9.755e-06	0.0002	6.55e-06	5.3e-06	9.95e-06	3.72e-06	6.009e-05	0	0	2.557e-05	0	0.0002	5.435e-06	8.363e-05	1.196e-05	2.636e-05	2.628e-05	0	5.402e-05	7.264e-05	8.16e-06	5.15e-06	1.926e-05	1.034e-05	7.264e-05	0	0	0	0	0	0	1.471e-05	0	0	0.009	0.57480	D	0.026	0.56640	D	0.998	0.90584	D	0.865	0.76916	P	0.000000	0.84330	D	0.090236	1	0.81001	D	2.69	0.78713	M	3.6	0.04494	T	-2.57	0.55501	D	0.631	0.64478	-1.2127	0.00078	T	0.059	0.24723	T	10	0.5963858	0.66665	D	0.017072	0.38615	T	0.292	0.61157	.	.	0.584612320503	0.58134	0.41859605515497605	0.41775	0.33988817045	0.35937	0.722741127014	0.70446	T	0.172522	0.52104	T	0.152612	0.69513	D	-0.0185598	0.69123	D	0.696750223636627	0.40564	D	0.90461	0.69301	D	0.36366418	0.58114	0.37368938	0.62551	0.36366418	0.58114	0.37368938	0.62550	-10.146	0.74781	D	.	.	0.11	0.28578	B	.;.;.	.;.;.	5.001949	0.83007	27.9	0.99940192796158067	0.99767	0.97751	0.76869	D	AEFBI	0.780231	0.71219	D	0.776996634228435	0.84648	8.34689	0.769406952443557	0.87597	9.277856	0.999999999778827	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	6.434000	0.73332	9.917000	0.82473	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.852000	0.40310	0.0:0.0:1.0:0.0	19.044	0.92994	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2345.43	35	chr17	2373007	.	G	A	2345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.811;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.326;SOR=0.667	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1202	9	0	1	0
chr17	2387556	2387556	T	G	exonic	MNT	.	nonsynonymous SNV	MNT:NM_020310:exon6:c.A1094C:p.K365T	.	417	1088	17	0	0	17	0.00775194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	.	0.0189696	0.0111	0.0003	0.0006	0.0026	0	0.0001	0.0088	0.0779	0.009573	1480	154602	rs140963967	0.0047	0.0047	0.0026	0.0069	0.0739	0.0046	0.0046	0.0724	0.0718	0.0001	0.0002	0.0001	0.0019	0	0.0023	7.824e-05	0.0059	0.0739	0.0026	0.0026	0.0014	0.0039	0.0760	0.0024	0.0023	0.0696	0.0671	4.816e-05	0	6.54e-05	0	0.0043	0	0	7.354e-05	0.0009	0.0760	0.177	0.22224	T	0.235	0.24767	T	0.998	0.73220	D	0.986	0.76916	D	0.002794	0.35935	N	0.188908	0.993833	0.42069	D	0.695	0.17993	N	-1.59	0.82076	D	-1.08	0.28084	N	0.052	0.02366	0.014	0.82537	D	0.528	0.82463	D	10	0.002190411	0.00032	T	.	.	.	0.313	0.63482	.	.	.	.	0.3892611903357194	0.38841	1.13919779569	0.78864	0.609677195549	0.54270	T	0.158332	0.50130	T	-0.455343	0.01050	T	-0.368493	0.37066	T	0.0251517122557525	0.01293	T	0.540046	0.18281	T	0.077902794	0.17710	0.060504477	0.11532	0.077902794	0.17709	0.060504477	0.11531	-2.527	0.05969	T	.	.	0.164	0.36154	B	.	.	3.879256	0.56368	23.7	0.99660588320479404	0.77883	0.90179	0.51154	D	AEFBCI	0.229499	0.35302	N	0.459268476442473	0.64732	4.734332	0.432427236862145	0.63595	4.596571	0.999798571502059	0.43153	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	2.116000	0.41553	4.993000	0.46541	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.832000	0.39227	0.0:0.0:0.0:1.0	13.310	0.59815	701	0.57775	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.001359	0.002924	0.000000	0.017241	0.000000	0.037879	0.05	1041.43	34	chr17	2387556	.	T	G	1041.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.483;DP=432;ExcessHet=0;FS=4.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.64;ReadPosRankSum=-0.738;SOR=1.15	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr17	3092169	3092169	C	T	exonic	OR1D2	.	nonsynonymous SNV	OR1D2:NM_002548:exon1:c.G828A:p.M276I	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00129143392044	0.0004	0.000998403	0.0010	0.0002	0	0	0	0.0003	0	0.0060	0.000925	143	154602	rs140897582	0.0005	0.0005	0.0004	0.0007	0.0056	0.0005	0.0005	0.0052	0.0050	2.989e-05	2.236e-05	0	0	0	0.0014	0.0002	0.0005	0.0056	0.0003	0.0003	0.0002	0.0004	0.0029	0.0002	0.0002	0.0018	0.0014	4.812e-05	0	0	0	0	0	0.0034	0.0004	0.0009	0.0029	0.144	0.25255	T	0.108	0.37589	T	0.343	0.33512	B	0.345	0.42592	B	.	.	.	.	0.976449	0.25374	N	1.625	0.41611	L	8.74	0.00084	T	-2.5	0.54382	D	0.151	0.15469	-1.0214	0.23259	T	0.000	0.00152	T	9	0.0083501935	0.00189	T	0.001291	0.01784	T	0.079	0.23065	0.559	0.67821	0.389596023526	0.38570	0.13124644139255676	0.13049	0.0867180676216	0.09781	0.277855277061	0.07195	T	0.013744	0.11830	T	-0.573931	0.00210	T	-0.594021	0.13320	T	0.0425831661824	0.04161	T	0.740526	0.35940	T	0.15199827	0.34525	0.25827968	0.51558	0.15199827	0.34525	0.25827968	0.51557	-5.981	0.46121	T	.	.	0.456	0.63038	A	.;.;.	.;.;.	2.320165	0.29709	18.21	0.98322250183813209	0.40251	0.32965	0.24714	N	AEFBI	0.121623	0.23638	N	-0.283688715723594	0.29778	1.654415	-0.279147623740696	0.28786	1.607708	2.792504398158E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.21	2.14	0.26518	-0.196000	0.09533	0.188000	0.15711	0.526000	0.24426	0.094000	0.22667	0.956000	0.29165	0.920000	0.45560	0.206:0.4723:0.2008:0.1209	1.958	0.03176	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	2421.43	34	chr17	3092169	.	C	T	2421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.826;DP=534;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-1.802;SOR=0.602	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1443	9	0	1	0
chr17	3278793	3278793	G	A	exonic	OR3A2	.	nonsynonymous SNV	OR3A2:NM_002551:exon1:c.C143T:p.T48I	.	446	1060	15	1	0	17	0.00795508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	.	0.0061901	0.0115	0.0030	0.0062	0.0253	0.0023	0.0078	0.0032	0.0376	0.0024973	65	26028	rs62089500	0.0045	0.0045	0.0042	0.0048	0.0165	0.0044	0.0044	0.0154	0.0150	0.0012	0.0023	0.0046	0.0165	0.0005	0.0050	0.0037	0.0041	0.0149	0.0028	0.0030	0.0027	0.0028	0.0128	0.0025	0.0024	0.0099	0.0089	0.0006	0	0.0017	0.0036	0.0118	0.0005	0.0104	0.0032	0.0021	0.0128	0.298	0.14595	T	0.141	0.33442	T	0.0	0.02946	B	0.0	0.01387	B	0.071925	0.21441	N	0.332811	1	0.08975	N	-1.48	0.00527	N	7.89	0.00329	T	1.86	0.00478	N	0.042	0.01498	-0.9619	0.38819	T	0.000	0.00011	T	10	0.0030370057	0.00050	T	.	.	.	0.140	0.37593	.	.	0.0675242888579	0.06100	0.08274056145003264	0.08209	0.794837845557	0.65999	0.19403898716	0.00305	T	0.002841	0.02237	T	-0.684027	0.00045	T	-0.741708	0.03819	T	0.00969862139160002	0.00127	T	0.030097	0.15191	T	0.023716258	0.01135	0.0437675	0.05519	0.023716258	0.01135	0.0437675	0.05519	-1.229	0.01292	T	.	.	0.075	0.07697	B	.;.;.;.	.;.;.;.	0.620741	0.09894	6.652	0.98459852083566546	0.41722	0.00144	0.00877	N	AEFGI	0.040899	0.06148	N	-0.979664583794467	0.09038	0.4261493	-0.775832922645994	0.15089	0.7918076	0.0014842991609455	0.08576	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.89	4.89	0.63387	5.070000	0.64205	1.372000	0.25964	-1.669000	0.00802	0.417000	0.26305	0.000000	0.08366	0.102000	0.18378	0.9186:0.0:0.0814:0.0	9.970	0.40916	641	0.64016	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005166	0.000000	0.002747	0.000000	0.000000	0.008772	0.018657	0.012000	0.05556	472.05	38	chr17	3278793	.	G	A	472.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=2.15;DP=339;ExcessHet=0;FS=0;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=36.78;MQRankSum=0.496;QD=10.49;ReadPosRankSum=-1.068;SOR=0.714	GT:AD:DP:GQ:PL	0/0:21,0:21:54:0,54,810	8	0	1	1
chr17	3398263	3398263	G	A	exonic	OR1E1	.	stopgain	OR1E1:NM_003553:exon1:c.C148T:p.R50X	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0006	0.0001488	23	154602	rs189246588	8.551e-05	8.551e-05	7.895e-05	9.213e-05	0.0009	7.312e-05	6.815e-05	0.0003	0.0003	0	0	0.0005	0	1.872e-05	0.0009	5.216e-05	0.0001	0.0005	5.911e-05	5.906e-05	3.856e-05	8.058e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	0	0	0	0.0003	0	0	0	5.88e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.223226	0.03469	N	1.541270	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0561561	0.43507	T	0.0379366	0.72793	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.574937	0.95426	35	0.99591805034403791	0.73631	0.03292	0.08343	N	AEFGI	0.067267	0.13216	N	0.0241242410133305	0.42952	2.59794	-0.339045356348449	0.26850	1.485794	9.20030318048962E-6	0.01202	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	4.39	-1.12	0.09306	-1.283000	0.02904	-6.031000	0.01518	0.641000	0.52212	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.113:0.1956:0.5733:0.1181	3.395	0.06879	840	0.37365	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2646.43	202	chr17	3398263	.	G	A	2646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.64;DP=570;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.22;MQRankSum=-0.714;QD=13.1;ReadPosRankSum=2.48;SOR=0.57	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr17	3543545	3543545	A	G	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon5:c.T395C:p.V132A,TRPV3:NM_145068:exon5:c.T395C:p.V132A	Olmsted syndrome, Autosomal dominant	1	1511	10	0	0	10	0.00329815	.	.	.	328114	Isolated_focal_non-epidermolytic_palmoplantar_keratoderma|not_provided	MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	7.7e-05	0.00539137	0.0047	0.0003	0.0003	0.0001	0	4.496e-05	0.0033	0.0340	0.0040232	622	154602	rs139870087	0.0021	0.0021	0.0012	0.0030	0.0332	0.0020	0.0020	0.0322	0.0318	2.987e-05	2.236e-05	0	7.557e-05	0	0.0007	2.608e-05	0.0023	0.0332	0.0010	0.0010	0.0004	0.0016	0.0291	0.0009	0.0008	0.0252	0.0237	0.0001	0	0	0	0.0006	0	0	1.47e-05	0.0005	0.0291	1.0	0.00964	T	0.583	0.12920	T	0.0	0.13644	B	0.002	0.17743	B	0.027061	0.25820	N	0.367561	0.807464	0.29041	N	0.715	0.18665	N	-2.17	0.87591	D	-0.08	0.08187	N	0.078	0.12913	-0.7183	0.59546	T	0.388	0.74298	T	10	0.004003018	0.00077	T	.	.	.	0.151	0.39764	.	.	0.821853393705	0.82017	0.38004091815012153	0.37919	0.203211832339	0.22737	0.501153469086	0.38988	T	0.064	0.32268	T	-0.401881	0.02250	T	-0.324983	0.42026	T	0.0103249717654957	0.00141	T	0.670533	0.29475	T	0.08936931	0.20880	0.08118613	0.18430	0.09146237	0.21431	0.060334153	0.11472	-5.718	0.43853	T	.	.	0.182	0.42820	B	.;.;.;.	.;.;.;.	1.555870	0.19936	14.51	0.40847810486541158	0.02909	0.66927	0.33250	D	AEFGBI	0.182772	0.31010	N	-0.510105010248509	0.21752	1.156696	-0.332243773054126	0.27064	1.499159	0.00466858149891102	0.10663	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.27	4.19	0.48645	1.634000	0.36736	4.681000	0.44321	0.756000	0.94297	0.454000	0.26597	0.784000	0.26805	0.600000	0.31387	0.833:0.0:0.167:0.0	7.988	0.29383	631	0.64944	Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.05	992.43	35	chr17	3543545	.	A	G	992.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.073;DP=418;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.07;SOR=0.805	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1199	9	0	1	0
chr17	3688639	3688639	C	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204520:exon7:c.G802A:p.G268R,P2RX5:NM_175080:exon7:c.G799A:p.G267R,P2RX5:NM_001204519:exon8:c.G871A:p.G291R,P2RX5:NM_002561:exon8:c.G874A:p.G292R	.	424	1080	18	0	0	18	0.00826446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	.	0.0068	0.00199681	0.0070	0.0014	0.0016	0.0002	0.0129	0.0094	0.0099	0.0054	0.0066299	1025	154602	rs151100959	0.0082	0.0082	0.0081	0.0083	0.0087	0.0081	0.0080	0.0085	0.0085	0.0014	0.0017	0.0178	0.0001	0.0139	0.0023	0.0087	0.0079	0.0061	0.0063	0.0063	0.0065	0.0061	0.0091	0.0059	0.0058	0.0085	0.0082	0.0013	0.0252	0.0020	0.0164	0.0004	0.0137	0	0.0091	0.0033	0.0039	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.225	0.89467	M	2.88	0.10291	T	-7.41	0.95542	D	0.947	0.96302	0.310	0.87714	D	0.516	0.81883	D	10	0.017871082	0.00384	T	.	.	.	0.554	0.81601	0.856	0.95547	0.423836183345	0.42003	0.8317112110514865	0.83130	0.665262974677	0.59129	0.60632443428	0.53797	T	0.209868	0.57020	T	-0.0762595	0.40320	T	0.12807	0.78766	D	0.0732120158913289	0.09095	T	0.965003	0.96783	D	0.7305133	0.79753	0.6805191	0.81228	0.7305133	0.79754	0.6805191	0.81229	-11.97	0.85464	D	.	.	0.892	0.84607	P	.;.;.;.;.;.	.;.;.;.;.;.	6.792884	0.95742	35	0.99918103689360338	0.98586	0.98622	0.84808	D	AEFDBCI	0.952179	0.96741	D	0.549302741688913	0.70042	5.443436	0.53223490879597	0.70172	5.466149	0.999999994629643	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.620976	0.48614	0	.	.	5.18	5.18	0.71140	7.525000	0.80805	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.602000	0.31438	0.0:1.0:0.0:0.0	18.062	0.89306	830	0.39242	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	576.43	35	chr17	3688639	.	C	T	576.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-2.287;SOR=0.877	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1122	9	0	1	0
chr17	3695911	3695911	A	T	exonic	P2RX5	.	nonsynonymous SNV	P2RX5:NM_001204519:exon1:c.T95A:p.L32Q,P2RX5:NM_001204520:exon1:c.T95A:p.L32Q,P2RX5:NM_002561:exon1:c.T95A:p.L32Q,P2RX5:NM_175080:exon1:c.T95A:p.L32Q	.	396	1117	9	0	0	9	0.00401248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.236888456295	0.0045	0.00159744	0.0041	0.0017	0.0042	0	0.0006	0.0062	0.0067	0.0007	0.0040426	625	154602	rs142863822	0.0055	0.0055	0.0056	0.0053	0.0161	0.0054	0.0053	0.0135	0.0125	0.0014	0.0040	0.0218	2.519e-05	0.0003	0.0161	0.0060	0.0074	0.0005	0.0038	0.0038	0.0042	0.0033	0.0053	0.0035	0.0034	0.0049	0.0047	0.0016	0	0.0031	0.0210	0.0002	0.0005	0.0102	0.0053	0.0061	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	0.999993	0.58761	D	3.17	0.88688	M	3.35	0.05989	T	-4.15	0.77308	D	0.898	0.89800	-1.1045	0.03588	T	0.048	0.20315	T	9	0.0128594935	0.00275	T	0.236888	0.88519	D	0.468	0.76289	.	.	0.492200611407	0.48855	0.6062517246499286	0.60556	0.619650878989	0.56302	0.537075996399	0.44032	T	0.216573	0.57878	T	-0.0943812	0.37351	T	0.093156	0.76456	D	0.0342277089542724	0.02675	T	0.906109	0.77539	D	0.75578994	0.81206	0.72901064	0.83989	0.75578994	0.81207	0.72901064	0.83990	-11.306	0.82848	D	.	.	0.533	0.76268	A	.;.;.;.;.	.;.;.;.;.	4.856198	0.79421	27.1	0.99521544950057794	0.69284	0.53590	0.29409	D	ALL	0.938104	0.93683	D	0.608941124306516	0.73738	6.015681	0.470581582995615	0.66050	4.901765	0.999999999999993	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	3.33	3.33	0.37245	8.546000	0.90465	10.738000	0.83653	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.405000	0.26894	1.0:0.0:0.0:0.0	11.333	0.48723	840	0.37365	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.020161	0.015152	0.021739	0.035088	0.000000	0.034483	0.006135	0.007576	0.05	1645.43	36	chr17	3695911	.	A	T	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.186;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.708;SOR=0.725	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1042	9	0	1	0
chr17	3726150	3726150	T	C	exonic	HASPIN	.	nonsynonymous SNV	HASPIN:NM_031965:exon1:c.T2215C:p.Y739H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0101736378114	0.0008	0.000798722	0.0008	0.0004	0.0003	0	0	0.0013	0	0.0002	0.0008085	125	154602	rs74714325	0.0013	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0015	0.0015	0.0001	0.0006	0.0006	2.519e-05	5.616e-05	0.0009	0.0015	0.0014	0.0001	0.0011	0.0011	0.0012	0.0009	0.0016	0.0009	0.0009	0.0014	0.0013	0.0003	0.0263	0.0008	0.0009	0	0	0	0.0016	0.0014	0.0002	0.101	0.30375	T	0.467	0.12351	T	0.326	0.33151	B	0.146	0.33945	B	0.000094	0.51296	D	0.079041	1	0.81001	D	1.8	0.47472	L	3.32	0.06214	T	-1.01	0.26639	N	0.255	0.28849	-0.9706	0.37073	T	0.010	0.03856	T	10	0.009419292	0.00213	T	0.010174	0.26390	T	0.102	0.29158	.	.	0.235664433957	0.23186	0.5530356964768158	0.55229	0.520434833659	0.49844	0.459271430969	0.33210	T	0.055463	0.30014	T	-0.469047	0.00862	T	-0.471158	0.25392	T	0.0108688971616509	0.00155	T	0.740126	0.35895	T	0.22443363	0.45085	0.08226103	0.18761	0.22443363	0.45085	0.08226103	0.18761	-3.339	0.14245	T	.	.	0.121	0.25100	B	.	.	2.544508	0.32919	19.19	0.9883104488223643	0.46952	0.57101	0.30289	D	AEFBI	0.088332	0.17909	N	-0.247673370640336	0.31197	1.746854	-0.111242027286049	0.34936	2.015316	0.99995929379051	0.48110	0.706548	0.73137	0	0.581341	0.33841	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	4.33	0.51083	1.608000	0.36458	4.276000	0.42864	-0.120000	0.14102	0.939000	0.32602	1.000000	0.68203	0.966000	0.53164	0.0:0.1892:0.0:0.8108	6.903	0.23471	666	0.61362	Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2410.43	50	chr17	3726150	.	T	C	2410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=584;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.07;ReadPosRankSum=-1.218;SOR=0.92	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,117,1755	9	0	1	0
chr17	3745825	3745825	C	G	exonic	ITGAE	.	nonsynonymous SNV	ITGAE:NM_002208:exon18:c.G2258C:p.R753T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0153999031703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.987e-05	2.3e-07	9e-08	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.078	0.42261	T	0.642	0.40458	P	0.233	0.38358	B	.	.	.	.	1	0.08975	N	2.08	0.57402	M	1.04	0.40218	T	-2.34	0.51811	N	0.328	0.36884	-1.0254	0.21952	T	0.079	0.31314	T	9	0.22343284	0.39121	T	0.015	0.36109	T	0.095	0.27398	0.556	0.67409	0.495706241231	0.49207	0.4423848974937902	0.44155	0.533616575574	0.50795	0.274157345295	0.06690	T	0.068308	0.33423	T	-0.149987	0.28314	T	-0.453223	0.27341	T	0.438245952129364	0.30364	T	0.462854	0.13445	T	0.13623731	0.31589	0.20314221	0.44376	0.13623731	0.31589	0.20314221	0.44375	-5.834	0.44870	T	.	.	0.124	0.26200	B	.	.	-0.020594	0.04141	0.989	0.33846123901787184	0.02038	0.02201	0.06424	N	AEFDGBI	0.069168	0.13678	N	-0.765452492240976	0.14218	0.7064227	-0.918382077011723	0.11661	0.5954165	0.00886891112126667	0.11755	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.13	-0.233	0.12433	-0.588000	0.05867	-4.090000	0.02348	0.490000	0.22344	0.000000	0.06391	0.000000	0.08366	0.061000	0.16044	0.0:0.5427:0.0:0.4573	6.214	0.19858	824	0.40336	Integrin alpha-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1461.43	33	chr17	3745825	.	C	G	1461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.6;DP=425;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.644;SOR=0.527	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr17	3825813	3825815	TCA	-	exonic	NCBP3	.	nonframeshift deletion	NCBP3:NM_001114118:exon6:c.639_641del:p.D213del	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.346e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs757789300	3.645e-05	3.557e-05	3.102e-05	4.202e-05	0.0005	2.817e-05	2.547e-05	0.0001	7.631e-05	0	0	0	0	0	0.0005	3.8e-05	0.0001	1.262e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2983.39	193	chr17	3825812	.	TTCA	T	2983.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.193;DP=524;ExcessHet=0;FS=3.334;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.349;SOR=0.965	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1238	9	0	1	0
chr17	4206366	4206366	C	T	exonic	ANKFY1	.	nonsynonymous SNV	ANKFY1:NM_001257999:exon7:c.G979A:p.V327M,ANKFY1:NM_001330063:exon7:c.G853A:p.V285M,ANKFY1:NM_016376:exon7:c.G853A:p.V285M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0173610553966	.	.	2.485e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs748604686	4.788e-06	4.788e-06	0	9.626e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.222	0.25748	T	0.008	0.20732	B	0.013	0.24114	B	0.000746	0.42006	D	0.205089	0.999702	0.48980	D	1.33	0.33268	L	0.57	0.54347	T	-0.07	0.08033	N	0.2	0.24260	-1.0237	0.22508	T	0.107	0.38931	T	10	0.08554861	0.14454	T	0.017361	0.39027	T	0.034	0.08419	0.296	0.26041	0.456980322645	0.45321	0.28500353901814673	0.28413	0.453607085894	0.45050	0.59866476059	0.52715	T	0.040656	0.25599	T	-0.308533	0.07878	T	-0.499435	0.22405	T	0.244089230895042	0.22606	T	0.90471	0.66491	D	0.047101624	0.07995	0.09980401	0.23841	0.047101624	0.07994	0.09980401	0.23841	-4.289	0.29051	T	.	.	0.099	0.23430	B	.;.;.	.;.;.	2.481359	0.31997	18.91	0.97301398699932007	0.33280	0.92908	0.56842	D	AEFDGBI	0.214706	0.34015	N	-0.177151114940266	0.34087	1.941502	-0.0199216524034826	0.38817	2.292365	0.997145836749804	0.35316	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	3.46	0.38718	2.738000	0.47075	2.276000	0.31865	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.0:0.6873:0.1579:0.1548	6.306	0.20349	351	0.85421	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1639.43	34	chr17	4206366	.	C	T	1639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.466;DP=434;ExcessHet=0;FS=2.457;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.257;SOR=0.466	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1213	9	0	1	0
chr17	4445094	4445094	C	T	exonic	SPNS3	.	nonsynonymous SNV	SPNS3:NM_182538:exon3:c.C328T:p.R110C	.	400	1086	35	1	0	37	0.0167497	.	.	.	2814732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.607	.	0.0016	0.00179712	0.0024	0.0002	0.0006	0	0	0.0018	0.0022	0.0101	0.0021927	339	154602	rs146383415	0.0019	0.0019	0.0016	0.0022	0.0106	0.0018	0.0018	0.0100	0.0097	0.0002	0.0007	3.826e-05	2.519e-05	1.872e-05	0.0106	0.0015	0.0017	0.0105	0.0014	0.0014	0.0014	0.0014	0.0083	0.0013	0.0012	0.0063	0.0055	0.0003	0	0.0014	0	0.0002	0	0.0170	0.0019	0.0028	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	-0.27	0.67367	T	-7.83	0.96005	D	0.969	0.97961	0.198	0.85878	D	0.538	0.82945	D	10	0.070468366	0.10256	T	.	.	.	0.607	0.84559	.	.	0.570790795014	0.56744	0.835966378074442	0.83556	0.687635018432	0.60392	0.599764823914	0.52871	T	0.560963	0.85302	D	-0.00447933	0.51034	T	0.228751	0.84611	D	0.161984585976902	0.18017	T	0.936706	0.76258	D	0.8289964	0.85833	0.731659	0.84143	0.8289964	0.85834	0.731659	0.84144	-11.137	0.80403	D	.	.	0.417	0.60490	A	.	.	5.298360	0.88958	29.8	0.99921245889480892	0.98787	0.73539	0.35971	D	ALL	0.545952	0.56025	D	0.569891544201969	0.71299	5.63017	0.422482465245062	0.62970	4.521608	0.994452135849661	0.33644	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.631631	0.49550	0	.	.	4.51	4.51	0.54589	1.655000	0.36960	4.807000	0.45013	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.162000	0.20715	0.1911:0.8089:0.0:0.0	10.703	0.45134	716	0.55970	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.004076	0.000000	0.000000	0.008621	0.006098	0.030303	0.05	2033.43	33	chr17	4445094	.	C	T	2033.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=452;ExcessHet=0;FS=0.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.024;SOR=0.713	GT:AD:DP:GQ:PL	0/1:63,82:145:99:2045,0,1359	9	0	1	0
chr17	4551894	4551894	C	T	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon8:c.G1009A:p.V337M,MYBBP1A:NM_014520:exon8:c.G1009A:p.V337M	.	423	1094	5	0	0	5	0.00227998	.	.	.	740824	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.116	0.0106028199985	0.0012	0.000998403	0.0013	0.0003	0.0010	0.0001	0	0.0020	0.0023	0.0005	0.0013325	206	154602	rs115682714	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0002	0.0011	0.0013	0.0001	5.657e-05	0.0016	0.0021	0.0020	0.0010	0.0011	0.0011	0.0012	0.0011	0.0019	0.0010	0.0009	0.0016	0.0015	0.0004	0	0.0013	0.0006	0.0002	0	0	0.0019	0.0005	0.0006	0.646	0.04912	T	0.658	0.06554	T	0.308	0.33788	B	0.03	0.25278	B	0.348570	0.04231	N	1.328290	1	0.08975	N	-0.805	0.01590	N	-0.4	0.69287	T	-0.26	0.11185	N	0.213	0.23758	-1.0025	0.29197	T	0.039	0.16677	T	10	0.012791246	0.00274	T	0.010603	0.27324	T	0.116	0.32463	.	.	0.572452295634	0.56912	0.2304014011421641	0.22955	.	.	0.229720920324	0.01947	T	0.023633	0.18008	T	-0.463586	0.00933	T	-0.444853	0.28265	T	0.00478832593720813	0.00051	T	0.725427	0.33942	T	0.013463164	0.00060	0.024377821	0.00457	0.013463164	0.00060	0.024377821	0.00457	-5.367	0.40621	T	.	.	0.116	0.23465	B	.;.	.;.	-0.752981	0.01203	0.059	0.13674276430419924	0.00277	0.06005	0.11969	N	AEFDGBI	0.035377	0.04543	N	-1.78604843851278	0.00580	0.02499573	-1.8575701406849	0.00592	0.02628979	0.99999997376717	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.94	-9.88	0.00387	-0.238000	0.08995	-1.725000	0.04842	-0.228000	0.07776	0.002000	0.15269	0.000000	0.08366	0.026000	0.12556	0.2396:0.4202:0.2032:0.137	3.124	0.06016	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002018	0.005051	0.001362	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1169.43	63	chr17	4551894	.	C	T	1169.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.758;DP=530;ExcessHet=0;FS=3.142;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=1.36;SOR=0.4	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1093	9	0	1	0
chr17	4552616	4552616	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon6:c.C572T:p.A191V,MYBBP1A:NM_014520:exon6:c.C572T:p.A191V	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0118972905183	0.0005	0.000998403	0.0012	0.0003	0.0010	0	0	0.0011	0.0011	0.0034	0.0010931	169	154602	rs138754898	0.0008	0.0008	0.0006	0.0009	0.0157	0.0007	0.0007	0.0131	0.0121	0.0001	0.0007	0.0091	2.52e-05	0	0.0157	0.0003	0.0015	0.0030	0.0008	0.0008	0.0008	0.0009	0.0035	0.0007	0.0007	0.0022	0.0018	2.406e-05	0	0.0018	0.0104	0.0002	0	0.0034	0.0006	0.0014	0.0035	0.084	0.32929	T	0.045	0.49390	D	0.012	0.17086	B	0.009	0.17295	B	0.109271	0.19492	N	0.575167	1	0.08975	N	1.83	0.48079	L	0.97	0.42502	T	-1.49	0.36385	N	0.239	0.26957	-1.0272	0.21363	T	0.090	0.34573	T	10	0.0059212744	0.00133	T	0.011897	0.29978	T	0.067	0.19503	.	.	0.568572517066	0.56521	0.1526008540299817	0.15182	.	.	0.278889238834	0.07337	T	0.031852	0.22228	T	-0.458036	0.01011	T	-0.433134	0.29580	T	0.0108225124619509	0.00154	T	0.685131	0.29365	T	0.047382046	0.08088	0.048845947	0.07339	0.047382046	0.08088	0.048845947	0.07339	-5.277	0.39714	T	.	.	0.098	0.16054	B	.;.	.;.	1.638907	0.20919	14.97	0.98605821018212869	0.43572	0.75451	0.36943	D	AEFBCI	0.162185	0.28833	N	-0.441738241851715	0.24021	1.294126	-0.399210175550988	0.25021	1.373542	0.999548813669669	0.40300	0.719381	0.83141	0	0.723133	0.82719	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.78	3.76	0.42368	3.251000	0.51154	5.076000	0.47223	0.654000	0.53741	0.911000	0.31706	0.977000	0.30130	0.008000	0.08271	0.0776:0.0:0.7712:0.1512	8.593	0.32858	749	0.51929	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.008152	0.029240	0.000000	0.000000	0.003049	0.003788	0.05	598.43	37	chr17	4552616	.	G	A	598.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.346;DP=371;ExcessHet=0;FS=1.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.808;SOR=0.489	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X,MYBBP1A:NM_014520:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5651.32	133	chr17	4555303	.	G	A	5651.32	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.369;DP=751;ExcessHet=2.8389;FS=1.107;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=-0.554;SOR=0.771	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	9	0	1	0
chr17	4558172	4558172	G	A	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_153338:exon3:c.C1229T:p.P410L,GGT6:NM_001122890:exon4:c.C1325T:p.P442L,GGT6:NM_001288702:exon4:c.C1343T:p.P448L	.	425	1070	27	0	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0097	0.00459265	0.0076	0.0016	0.0054	0	0.0048	0.0114	0.0133	0.0024	0.007626	1179	154602	rs77762950	0.0091	0.0091	0.0090	0.0092	0.0160	0.0090	0.0089	0.0133	0.0123	0.0017	0.0076	0.0195	2.519e-05	0.0034	0.0160	0.0102	0.0092	0.0026	0.0086	0.0086	0.0084	0.0087	0.0134	0.0082	0.0080	0.0119	0.0113	0.0017	0.1316	0.0134	0.0196	0.0002	0.0044	0.0102	0.0111	0.0137	0.0019	0.018	0.50676	D	0.966	0.02509	T	0.979	0.59044	D	0.747	0.55931	P	0.541062	0.11536	N	0.774976	0.997841	0.22480	N	2.085	0.57729	M	1.92	0.44461	T	-2.82	0.59545	D	0.3	0.41952	-1.0912	0.05335	T	0.054	0.22846	T	10	0.0035294294	0.00063	T	.	.	.	0.097	0.27909	.	.	0.603641259496	0.60047	0.3289904677725707	0.32812	0.217854078565	0.24320	0.282811880112	0.07887	T	0.005573	0.05022	T	-0.549481	0.00294	T	-0.55168	0.17165	T	0.024875988888992	0.01256	T	0.615039	0.23503	T	0.05866649	0.11831	0.10704525	0.25763	0.05866649	0.11830	0.10704525	0.25762	-3.931	0.22768	T	.	.	0.098	0.16407	B	.;.;.;.	.;.;.;.	2.262537	0.28910	17.95	0.9475073979397578	0.25451	0.70330	0.34546	D	AEFDBI	0.233775	0.35664	N	0.186513178198232	0.50551	3.244076	0.167432526251457	0.48072	3.028262	0.999948598767882	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.06	4.02	0.45968	1.881000	0.39273	3.783000	0.39798	0.676000	0.76740	0.485000	0.26840	0.998000	0.33993	0.023000	0.12082	0.0:0.0:0.8031:0.1969	10.277	0.42694	735	0.53711	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016113	0.010101	0.017663	0.011696	0.050000	0.025862	0.033537	0.007576	0.05	914.43	33	chr17	4558172	.	G	A	914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.338;DP=401;ExcessHet=0;FS=0.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.73;ReadPosRankSum=0.192;SOR=0.574	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1242	9	0	1	0
chr17	4559354	4559354	G	T	exonic	GGT6	.	nonsynonymous SNV	GGT6:NM_001122890:exon3:c.C428A:p.A143D,GGT6:NM_001288702:exon3:c.C446A:p.A149D,GGT6:NM_001288703:exon3:c.C428A:p.A143D	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0131299137896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924122939	5.719e-06	6.156e-06	2.821e-06	8.696e-06	0.0007	2.46e-06	1.78e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.854e-06	3.448e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.038	0.51421	D	0.846	0.46778	P	0.363	0.43280	B	0.411905	0.12985	N	0.730506	0.982553	0.45755	D	3.075	0.87202	M	3.2	0.07236	T	.	.	.	0.791	0.78737	-1.0394	0.17495	T	0.026	0.11353	T	10	0.8338195	0.82540	D	0.01313	0.32289	T	0.240	0.54500	0.856	0.95547	0.488337271218	0.48467	0.737328465584794	0.73677	0.402927746685	0.41237	0.519193768501	0.41513	T	0.005599	0.05051	T	-0.0842154	0.39028	T	-0.358746	0.38198	T	0.750708699226379	0.43324	D	0.90121	0.65680	D	0.14641279	0.33518	0.1431635	0.34033	0.14641279	0.33518	0.1431635	0.34032	-7.108	0.54818	T	.	.	0.370	0.61083	A	.;.;.	.;.;.	3.679886	0.52371	23.2	0.99575684748421844	0.72682	0.21169	0.21306	N	AEFDBI	0.124507	0.24059	N	0.154993074601818	0.49049	3.109689	0.118056553088479	0.45473	2.809804	0.998992258721176	0.38161	0.486886	0.10167	0	0.547309	0.14657	0	0.578056	0.29568	0	0.478617	0.07155	0	.	.	5.07	1.84	0.24348	1.605000	0.36426	6.577000	0.55985	0.676000	0.76740	0.916000	0.31843	1.000000	0.68203	0.910000	0.44547	0.2044:0.0:0.5998:0.1958	3.672	0.07814	735	0.53711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002903	0.005102	0.002513	0.000000	0.000000	0.013889	0.004032	0.000000	0.05	1307.43	34	chr17	4559354	.	G	T	1307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.523;DP=447;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=-0.509;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	9	0	1	0
chr17	4817149	4817149	A	G	exonic	PLD2	.	nonsynonymous SNV	PLD2:NM_001243108:exon17:c.A1705G:p.T569A,PLD2:NM_002663:exon17:c.A1705G:p.T569A	.	419	1085	18	0	0	18	0.00822669	.	.	.	755916	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00592412599397	0.0007	0.00199681	0.0019	0.0005	0.0007	0	0.0041	0.0012	0.0033	0.0067	0.0017788	275	154602	rs137971062	0.0016	0.0017	0.0015	0.0018	0.0090	0.0016	0.0016	0.0071	0.0064	0.0001	0.0007	0.0035	0	0.0051	0.0090	0.0011	0.0027	0.0060	0.0014	0.0014	0.0013	0.0015	0.0060	0.0013	0.0012	0.0043	0.0037	0.0002	0	0.0016	0.0040	0	0.0049	0.0034	0.0012	0.0019	0.0060	0.444	0.09155	T	0.619	0.09555	T	0.001	0.07471	B	0.003	0.08700	B	0.000298	0.46274	D	0.223486	0.692358	0.30179	N	0.895	0.22405	L	1.98	0.31205	T	-0.52	0.16187	N	0.188	0.20528	-1.0537	0.13386	T	0.050	0.21339	T	10	0.008443952	0.00191	T	0.005924	0.15430	T	0.068	0.19811	.	.	0.465294738428	0.46155	0.3430681418602734	0.34219	0.135075783952	0.15223	0.470530569553	0.34753	T	0.047517	0.27747	T	-0.54391	0.00317	T	-0.551593	0.17174	T	0.0108779694914474	0.00155	T	0.69563	0.30512	T	0.13185768	0.30721	0.072045706	0.15499	0.13185768	0.30721	0.072045706	0.15498	-5.461	0.41502	T	.	.	0.067	0.04558	B	.;.;.	.;.;.	2.943240	0.39137	20.9	0.95190821469706288	0.26372	0.82474	0.41696	D	AEFBI	0.279556	0.39358	N	-0.175559590233012	0.34153	1.946061	-0.0383187549246351	0.37999	2.232655	4.46765553341721E-4	0.07004	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.48	4.48	0.53973	2.128000	0.41668	11.229000	0.90032	0.756000	0.94297	0.979000	0.35152	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.750	0.51108	447	0.79583	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.002717	0.023392	0.050000	0.025862	0.012195	0.000000	0.05	2254.43	40	chr17	4817149	.	A	G	2254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.245;DP=511;ExcessHet=0;FS=0.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.686;SOR=0.64	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	9	0	1	0
chr17	4898816	4898816	C	G	exonic	CHRNE	.	nonsynonymous SNV	CHRNE:NM_000080:exon12:c.G1402C:p.V468L	Myasthenic syndrome, congenital, 4A, slow-channel, Autosomal recessive, Autosomal dominant;Myasthenic syndrome, congenital, 4B, fast-channel, Autosomal recessive;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1438	80	4	0	88	0.0296896	.	.	.	134213	Congenital_myasthenic_syndrome_4B|Congenital_myasthenic_syndrome_4A|Congenital_myasthenic_syndrome_4C|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590|MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590|MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0049	0.00658946	0.0116	0.0024	0.0058	0	0.0009	0.0122	0.0085	0.0239	0.0070956	1097	154602	rs139171143	0.0082	0.0082	0.0077	0.0087	0.0202	0.0081	0.0080	0.0194	0.0191	0.0010	0.0042	0.0137	0	0.0009	0.0144	0.0081	0.0089	0.0202	0.0056	0.0056	0.0052	0.0059	0.0168	0.0053	0.0051	0.0138	0.0128	0.0011	0	0.0075	0.0147	0.0002	0.0006	0.0102	0.0078	0.0066	0.0168	0.439	0.09291	T	0.781	0.04316	T	0.006	0.13644	B	0.012	0.16012	B	0.124231	0.18888	N	0.544079	1	0.08975	N	-1.03	0.01126	N	-1.78	0.83737	D	0.04	0.06488	N	0.026	0.00527	-0.9563	0.39861	T	0.170	0.51149	T	10	0.0081155	0.00184	T	.	.	.	0.193	0.47281	0.524	0.62818	0.73970075848	0.73736	0.5108977494356424	0.51011	0.173132123751	0.19504	0.436431020498	0.30089	T	0.123991	0.44873	T	-0.44225	0.01254	T	-0.392443	0.34266	T	0.00471746528373489	0.00050	T	0.568443	0.20183	T	0.0839231	0.19401	0.05937821	0.11132	0.09259061	0.21725	0.05937821	0.11131	-4.574	0.31843	T	0.07255126532831871	0.02984	0.082	0.08705	B	.;.	.;.	1.464950	0.18879	13.97	0.944513145183004	0.24882	0.11588	0.16732	N	AEFDGBCI	0.135937	0.25643	N	-0.833096516067367	0.12471	0.6080328	-0.71362750297996	0.16621	0.8801673	0.999998109444355	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	4.91	0.885	0.18323	-0.492000	0.06547	-0.945000	0.06834	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2577:0.3665:0.3758:0.0	7.891	0.28840	296	0.88164	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016633	0.000000	0.010899	0.008824	0.000000	0.000000	0.027439	0.045455	0.1	3393.14	34	chr17	4898816	.	C	G	3393.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.39;DP=664;ExcessHet=0.2348;FS=4.216;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.47;SOR=0.515	GT:AD:DP:GQ:PL	0/1:77,74:151:99:1719,0,1643	8	0	2	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,64:65:99:.:.:2298,182,0:.	3	5	2	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,64:65:99:.:.:2298,182,0:.	1	5	3	1
chr17	4990246	4990246	G	A	exonic	INCA1	.	stopgain	INCA1:NM_001167985:exon4:c.C64T:p.R22X,INCA1:NM_001167987:exon4:c.C64T:p.R22X,INCA1:NM_213726:exon4:c.C64T:p.R22X,INCA1:NM_001167986:exon5:c.C64T:p.R22X	.	432	1066	23	1	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.000399361	0.0021	0.0004	0.0006	0	0	0.0032	0.0045	0.0018	0.0018887	292	154602	rs149206445	0.0016	0.0016	0.0014	0.0017	0.0043	0.0015	0.0015	0.0030	0.0026	0.0001	0.0008	0.0432	0	7.491e-05	0.0043	0.0006	0.0041	0.0021	0.0017	0.0017	0.0018	0.0016	0.0027	0.0015	0.0015	0.0016	0.0013	0.0002	0	0.0009	0.0439	0	9.429e-05	0.0034	0.0009	0.0043	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.001109	0.40219	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.319	0.38950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264431	0.79938	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive;Recessive	.;.;High;High	8.892603	0.98170	39	0.99601299692398826	0.74219	0.75325	0.36875	D	AEFDGBI	0.106746	0.21289	N	0.772409359333503	0.84354	8.264534	0.622320849957029	0.76565	6.514363	0.999999447789297	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.636168	0.56350	0	.	.	4.37	4.37	0.51830	2.384000	0.44017	6.006000	0.52567	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	12.746	0.56658	557	0.71576	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1171.43	38	chr17	4990246	.	G	A	1171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=440;ExcessHet=0;FS=5.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.543;SOR=1.252	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr17	5363006	5363006	C	T	exonic	RABEP1	.	nonsynonymous SNV	RABEP1:NM_001291581:exon9:c.C1529T:p.T510M,RABEP1:NM_001083585:exon10:c.C1658T:p.T553M,RABEP1:NM_004703:exon10:c.C1658T:p.T553M	.	426	1086	10	0	0	10	0.00458295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	.	0.00179712	0.0015	0.0003	8.652e-05	0.0001	0	4.511e-05	0.0022	0.0105	0.0012613	195	154602	rs374594228	0.0007	0.0007	0.0003	0.0012	0.0120	0.0007	0.0007	0.0114	0.0112	2.993e-05	2.236e-05	0	2.52e-05	1.872e-05	0.0007	1.262e-05	0.0005	0.0120	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0051	2.408e-05	0	0	0	0	9.441e-05	0	1.47e-05	0.0005	0.0077	0.092	0.31682	T	0.097	0.39190	T	0.144	0.27759	B	0.039	0.23607	B	0.000004	0.62929	D	0.104278	0.999993	0.58761	D	0.755	0.19153	N	1.33	0.35031	T	-0.18	0.09796	N	0.461	0.49783	-1.0867	0.06102	T	0.054	0.22921	T	10	0.009521872	0.00215	T	.	.	.	0.134	0.36365	0.642	0.77903	0.314436011497	0.31061	0.40679981457577513	0.40595	.	.	0.745171904564	0.73733	T	0.098707	0.40279	T	-0.405872	0.02118	T	-0.345395	0.39732	T	0.0477543146671593	0.05099	T	0.943306	0.78595	D	0.10942916	0.25872	0.099683255	0.23809	0.10942916	0.25871	0.099683255	0.23808	-3.458	0.17182	T	.	.	0.098	0.27642	B	.;.	.;.	4.973395	0.82330	27.8	0.98915920643194	0.48454	0.96176	0.67882	D	AEFBI	0.488417	0.52675	N	-0.184394770695045	0.33783	1.92066	-0.0248319835592015	0.38596	2.276241	0.996940744120789	0.35138	0.706548	0.73137	0	0.724815	0.89359	0	0.658105	0.52812	0	0.714379	0.83352	0	.	.	5.61	4.63	0.57175	3.952000	0.56399	7.697000	0.66086	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.989000	0.64315	0.1507:0.7749:0.0:0.0744	8.840	0.34296	504	0.75712	Rabaptin, GTPase-Rab5 binding domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	757.43	33	chr17	5363006	.	C	T	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=0.571;SOR=0.727	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1183	9	0	1	0
chr17	6589815	6589815	G	A	exonic	KIAA0753	.	nonsynonymous SNV	KIAA0753:NM_001351225:exon18:c.C1853T:p.A618V,KIAA0753:NM_014804:exon18:c.C2750T:p.A917V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0145602795894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.28772	T	0.0	0.92824	D	0.979	0.59044	D	0.603	0.50895	P	0.000004	0.62929	D	0.104953	0.664484	0.30419	N	.	.	.	1.17	0.37910	T	-1.54	0.37375	N	0.538	0.56576	-0.8296	0.53327	T	0.119	0.41735	T	10	0.27429348	0.44982	T	0.01456	0.34757	T	0.135	0.36572	0.418	0.45873	0.396044805602	0.39223	0.28109843169124854	0.28022	0.436420371793	0.43731	0.497470617294	0.38475	T	0.034669	0.23413	T	0.0333114	0.56164	T	-0.189927	0.55596	T	0.949051916599274	0.63029	D	0.820918	0.51273	T	0.07941727	0.18141	0.109582745	0.26412	0.07941727	0.18141	0.109582745	0.26411	-6.993	0.53983	T	.	.	0.167	0.42332	B	.;.;.	.;.;.	4.654260	0.74218	26.1	0.99931835080865739	0.99387	0.88976	0.49173	D	AEFBI	0.258936	0.37738	N	0.527522944140358	0.68724	5.256619	0.545656182238579	0.71097	5.603	0.998914449077123	0.37962	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	2.876000	0.48197	9.707000	0.81321	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.868000	0.41282	0.0:0.0:0.8334:0.1666	12.526	0.55431	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1281.14	34	chr17	6589815	.	G	A	1281.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.992;DP=396;ExcessHet=0.2348;FS=3.416;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.27;SOR=0.424	GT:AD:DP:GQ:PL	0/1:30,24:54:99:498,0,720	8	0	2	0
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V,SLC13A5:NM_001284509:exon2:c.A124G:p.I42V,SLC13A5:NM_177550:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	522.45	140	chr17	6707135	.	T	C	522.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.368;DP=1058;ExcessHet=0.7463;FS=128.46;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.637;SOR=9.657	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	7	0	3	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	707.24	133	chr17	6800775	.	C	G	707.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.798;DP=1085;ExcessHet=0.2348;FS=431.21;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.89;SOR=9.346	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1414	5	0	2	3
chr17	6996965	6996965	T	C	exonic	ALOX12	.	nonsynonymous SNV	ALOX12:NM_000697:exon2:c.T275C:p.V92A	.	419	1102	1	0	0	1	0.000453515	.	.	.	2282345	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00644569914697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.394e-06	2.052e-06	1.382e-06	1.406e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.684e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.309	0.19782	T	0.0	0.02946	B	0.002	0.06944	B	0.851943	0.07063	N	1.067470	1	0.08975	N	-1.075	0.01037	N	-0.31	0.68030	T	0.26	0.04380	N	0.087	0.06454	-1.0208	0.23454	T	0.118	0.41582	T	10	0.037715167	0.02143	T	0.006446	0.16956	T	0.048	0.13305	0.588	0.71623	0.296679040009	0.29266	0.33807596284387614	0.33720	0.334617168617	0.35475	0.341922134161	0.16726	T	0.054641	0.29782	T	-0.243119	0.14954	T	-0.587	0.13927	T	0.0205092692134613	0.00751	T	0.0447955	0.00316	T	0.030439535	0.02707	0.030436397	0.01499	0.030439535	0.02706	0.030436397	0.01499	-3.075	0.11011	T	.	.	0.055	0.00368	B	.	.	0.830975	0.12026	8.581	0.6860442427522736	0.08709	0.00401	0.02002	N	AEFDBI	0.021120	0.00906	N	-1.113230867062	0.06407	0.2948187	-1.07153316939108	0.08264	0.4055771	0.491012891613694	0.20863	0.635344	0.42169	0	0.577304	0.33150	0	0.654045	0.52621	0	0.636168	0.56350	0	.	.	4.77	0.145	0.14124	-0.183000	0.09707	-0.608000	0.08236	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.536000	0.29845	0.3513:0.4545:0.0:0.1942	3.453	0.07074	764	0.49969	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1078.43	37	chr17	6996965	.	T	C	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.084;DP=422;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.602;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1115	9	0	1	0
chr17	7078084	7078084	G	A	exonic	CLEC10A	.	nonsynonymous SNV	CLEC10A:NM_001330070:exon3:c.C97T:p.R33C,CLEC10A:NM_006344:exon3:c.C97T:p.R33C,CLEC10A:NM_182906:exon3:c.C97T:p.R33C	.	414	1085	21	2	0	25	0.0113895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.022138676889	0.0035	0.00199681	0.0038	0.0011	0.0027	0.0001	0.0012	0.0036	0.0033	0.0098	0.003771	583	154602	rs78714016	0.0054	0.0054	0.0051	0.0056	0.0099	0.0053	0.0052	0.0094	0.0092	0.0009	0.0021	0.0036	5.039e-05	0.0017	0.0090	0.0057	0.0051	0.0099	0.0033	0.0033	0.0032	0.0034	0.0099	0.0030	0.0030	0.0077	0.0069	0.0009	0	0.0025	0.0032	0.0002	0.0018	0.0068	0.0050	0.0024	0.0099	0.001	0.78490	D	0.002	0.83351	D	0.996	0.90584	D	0.659	0.60472	P	0.040492	0.01878	N	2.091170	1	0.08975	N	2.55	0.74443	M	1.32	0.35219	T	-4.9	0.81595	D	0.23	0.35088	-1.0647	0.10619	T	0.145	0.46895	T	10	0.022438228	0.00560	T	0.022139	0.44997	T	0.107	0.30369	.	.	0.649400186836	0.64648	0.15275164685735493	0.15197	0.940815711379	0.72194	0.215233206749	0.01053	T	0.04285	0.26316	T	-0.486581	0.00679	T	-0.46404	0.26160	T	0.0444136846555577	0.04495	T	0.305369	0.49484	T	0.26619068	0.49689	0.16243555	0.37732	0.26619068	0.49688	0.16243555	0.37731	-7.441	0.57194	T	.	.	0.103	0.19357	B	.;.;.;.	.;.;.;.	2.350139	0.30131	18.34	0.99768695954374487	0.85666	0.02221	0.06462	N	AEFDBI	0.133994	0.25384	N	-0.251171184349336	0.31057	1.738	-0.490412490155215	0.22416	1.217445	0.0202370754940308	0.13238	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.43	1.13	0.19758	-0.097000	0.11010	-1.841000	0.04629	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0997:0.0:0.5512:0.3491	5.242	0.14795	572	0.70300	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.017241	0.003049	0.022727	0.05	920.43	39	chr17	7078084	.	G	A	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.794;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=1.2;SOR=0.807	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr17	7317527	7317527	T	C	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon27:c.A4246G:p.M1416V,NEURL4:NM_032442:exon27:c.A4252G:p.M1418V	.	424	1079	19	0	0	19	0.00872761	.	.	.	704339	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0059	0.00459265	0.0053	0.0015	0.0027	0.0001	0.0003	0.0049	0.0122	0.0151	0.0053428	826	154602	rs144766007	0.0069	0.0069	0.0068	0.0071	0.0137	0.0068	0.0068	0.0131	0.0128	0.0009	0.0029	3.826e-05	2.519e-05	0.0004	0.0042	0.0076	0.0059	0.0137	0.0046	0.0046	0.0047	0.0044	0.0100	0.0043	0.0042	0.0077	0.0069	0.0015	0	0.0056	0.0003	0	0.0004	0.0170	0.0070	0.0057	0.0100	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000006	0.62929	N	0.109105	0.755215	0.29597	N	0.05	0.08135	N	1.77	0.25841	T	0.49	0.02993	N	0.394	0.43514	-1.0019	0.29372	T	0.017	0.06855	T	10	0.0062610805	0.00141	T	.	.	.	0.074	0.21613	.	.	0.043077524339	0.03247	0.5707462383111115	0.57002	0.538728098851	0.51120	0.502444863319	0.39168	T	0.005909	0.05354	T	-0.536757	0.00350	T	-0.531467	0.19141	T	0.00742740142554384	0.00086	T	0.819218	0.47714	T	0.131274	0.30604	0.12637737	0.30437	0.131274	0.30603	0.12637737	0.30436	-1.456	0.01827	T	.	.	0.080	0.07745	B	.;.;.	.;.;.	3.249548	0.44396	21.9	0.82686605787481182	0.14321	0.95828	0.66327	D	AEFDGBI	0.682930	0.64578	D	-0.54608992193611	0.20606	1.087518	-0.319335026908503	0.27474	1.524787	0.999460908403817	0.39843	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	4.84	3.76	0.42368	4.172000	0.58036	3.489000	0.38702	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0859:0.0:0.9141	9.451	0.37889	523	0.74147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.003788	0.05	1512.43	34	chr17	7317527	.	T	C	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.041;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.359;SOR=0.711	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr17	7384513	7384513	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon7:c.C896A:p.A299D,TNK1:NM_003985:exon7:c.C896A:p.A299D	.	418	1062	39	3	0	45	0.0207469	.	.	.	3217119	TNK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.354	.	0.0066	0.00299521	0.0114	0.0023	0.0117	0	0.0014	0.0156	0.0215	0.0078	0.005912	914	154602	rs61730812	0.0083	0.0083	0.0084	0.0082	0.0250	0.0082	0.0081	0.0216	0.0203	0.0016	0.0067	0.0095	0	0.0006	0.0250	0.0094	0.0100	0.0036	0.0058	0.0058	0.0066	0.0051	0.0092	0.0055	0.0054	0.0086	0.0084	0.0018	0	0.0065	0.0072	0	0.0004	0.0408	0.0092	0.0142	0.0037	.	.	.	0.216	0.30143	T	0.853	0.48338	P	0.529	0.52771	P	0.028213	0.25637	N	0.280839	0.967537	0.38600	D	0.445	0.12748	N	-1.65	0.82625	D	.	.	.	0.451	0.55019	-0.3939	0.72219	T	0.246	0.61542	T	10	0.0139044225	0.00294	T	.	.	.	.	.	.	.	0.919329187289	0.91851	0.49443603386165175	0.49364	0.812905501583	0.66818	0.624475359917	0.56361	T	0.160806	0.50480	T	-0.29015	0.09621	T	-0.18245	0.56297	T	0.0225062001981507	0.00965	T	.	.	.	0.3468623	0.56822	0.3383932	0.59617	0.3468623	0.56822	0.3383932	0.59617	-7.8	0.59699	D	.	.	0.187	0.44847	B	.;.	.;.	4.194530	0.63243	24.6	0.99758617379124681	0.84851	0.77145	0.37899	D	AEFDGBHCI	0.501372	0.53423	D	-0.0255679916352551	0.40700	2.421557	-0.00384026937174498	0.39541	2.346067	0.999999999639966	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	5.0	4.03	0.46115	2.279000	0.43094	3.265000	0.37119	0.599000	0.40250	0.073000	0.22155	0.996000	0.32793	0.997000	0.79791	0.0:0.9126:0.0:0.0874	11.511	0.49744	192	0.92531	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021277	0.025510	0.015027	0.032164	0.050000	0.034483	0.027607	0.000000	0.1	1039.14	35	chr17	7384513	.	C	A	1039.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.572;DP=381;ExcessHet=0.2348;FS=3.847;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.149;SOR=1.127	GT:AD:DP:GQ:PL	0/1:36,16:52:99:302,0,991	8	0	2	0
chr17	7389019	7389019	C	A	exonic	TNK1	.	nonsynonymous SNV	TNK1:NM_001251902:exon13:c.C1936A:p.R646S,TNK1:NM_003985:exon13:c.C1921A:p.R641S	.	427	1094	1	0	0	1	0.00045683	.	.	.	2273792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.0430231825688	8.2e-05	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs375240414	4.278e-05	4.72e-05	3.238e-05	5.346e-05	0.0003	3.382e-05	3.043e-05	0.0002	0.0002	3.149e-05	0	0	0	0	0	3.054e-05	5.158e-05	0.0003	2.628e-05	2.627e-05	0	5.379e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.939e-05	0	0.0002	.	.	.	0.013	0.63109	D	0.141	0.27581	B	0.046	0.24676	B	0.340447	0.13971	N	0.635768	0.993519	0.23698	N	1.81	0.47622	L	-1.06	0.76819	T	.	.	.	0.194	0.21319	-0.7130	0.59805	T	0.329	0.69707	T	10	0.069713116	0.10041	T	0.043023	0.60770	D	.	.	.	.	0.775072296251	0.77300	0.2979536132619248	0.29708	0.210131293866	0.23496	0.260749727488	0.04981	T	0.145516	0.48268	T	-0.0326326	0.47034	T	-0.284651	0.46326	T	0.0529024936258793	0.06003	T	.	.	.	0.10378972	0.24534	0.10158465	0.24324	0.10378972	0.24533	0.10158465	0.24324	-7.335	0.56869	T	.	.	0.315	0.54108	B	.;.	.;.	3.307825	0.45438	22.1	0.98688000953371757	0.44723	0.28300	0.23516	N	AEFBI	0.131844	0.25093	N	-0.501827620405223	0.22021	1.172918	-0.429260648443221	0.24142	1.320434	0.953931397997563	0.28102	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.73	3.71	0.41733	1.250000	0.32453	3.300000	0.37375	-0.223000	0.07921	0.062000	0.21832	1.000000	0.68203	0.958000	0.51230	0.1438:0.7788:0.0:0.0774	9.290	0.36943	192	0.92531	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	972.43	44	chr17	7389019	.	C	A	972.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.674;DP=446;ExcessHet=0;FS=1.94;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=-0.845;SOR=1.053	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr17	7427127	7427127	G	A	exonic	SPEM2	.	nonsynonymous SNV	SPEM2:NM_175734:exon3:c.G1136A:p.R379H	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.00505954752809	.	.	5.178e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs201460109	4.18e-05	4.241e-05	2.726e-05	5.649e-05	0.0006	3.316e-05	3.006e-05	0.0004	0.0004	0	2.246e-05	0	2.52e-05	0	0	8.099e-06	3.317e-05	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.222249	0.16111	N	0.482650	1	0.08975	N	.	.	.	1.65	0.27650	T	4.8	0.00027	N	0.153	0.15749	-0.9726	0.36648	T	0.020	0.08546	T	10	0.020009875	0.00455	T	0.00506	0.12815	T	0.100	0.28662	0.195	0.10705	0.170165803431	0.16609	0.02918020233119927	0.02867	0.21794921711	0.24331	.	.	.	0.001447	0.00900	T	-0.483691	0.00704	T	-0.602564	0.12597	T	0.0450367745678754	0.04608	T	.	.	.	0.02324199	0.01048	0.03491378	0.02644	0.02324199	0.01048	0.03491378	0.02644	-4.605	0.32234	T	.	.	0.056	0.00496	B	.	.	1.340810	0.17474	13.18	0.47766064772525046	0.03932	0.00060	0.00440	N	AEFBI	0.016931	0.00411	N	-1.39773281393494	0.02660	0.1177561	-1.28295177590029	0.04661	0.2203565	1.35654007939644E-4	0.05486	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.81	3.65	0.40985	1.448000	0.34723	5.601000	0.49025	-0.092000	0.16129	0.015000	0.19116	0.999000	0.35428	0.001000	0.02609	0.727:0.1747:0.0983:0.0	5.423	0.15706	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1210.43	43	chr17	7427127	.	G	A	1210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.077;DP=575;ExcessHet=0;FS=4.532;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.371;SOR=0.69	GT:AD:DP:GQ:PL	0/0:98,0:98:99:0,120,1800	9	0	1	0
chr17	7482046	7482046	C	T	exonic	SLC35G6	.	nonsynonymous SNV	SLC35G6:NM_001102614:exon2:c.C62T:p.A21V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0211198030945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.20988	T	0.24	0.24406	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.81001	D	0	0.06538	N	1.72	0.26588	T	-0.05	0.07736	N	0.069	0.04188	-1.0125	0.26133	T	0.033	0.14290	T	9	0.051997185	0.05166	T	0.02112	0.43839	T	0.041	0.10877	0.084	0.00795	0.0611884634855	0.05136	0.10411578212053164	0.10341	0.320478947363	0.34256	0.444718599319	0.31223	T	0.005781	0.05228	T	-0.235117	0.15977	T	-0.575506	0.14949	T	0.332366909949813	0.26320	T	.	.	.	0.06254997	0.13077	0.1308734	0.31437	0.06254997	0.13076	0.1308734	0.31436	-4.55	0.31538	T	.	.	0.079	0.07460	B	.	.	2.103710	0.26765	17.23	0.99479413757239166	0.66795	0.85663	0.44820	D	AEFBI	0.308120	0.41480	N	-0.542750450680488	0.20711	1.093856	-0.39493752120749	0.25146	1.381215	0.999963664933866	0.48965	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.21	3.21	0.35933	2.568000	0.45628	2.654000	0.33835	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.0:0.8143:0.1857:0.0	11.305	0.48563	149	0.94096	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1380.43	47	chr17	7482046	.	C	T	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.037;DP=654;ExcessHet=0;FS=1.568;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=1.07;QD=13.15;ReadPosRankSum=0.53;SOR=0.865	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr17	7719805	7719805	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_001303270:exon2:c.G71A:p.R24Q,DNAH2:NM_020877:exon2:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0045725035546	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937116671	4.106e-06	4.104e-06	2.724e-06	5.503e-06	5.978e-05	1.48e-06	9.7e-07	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	2.699e-06	1.657e-05	0	1.314e-05	1.313e-05	0	2.689e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.028	0.54934	D	0.016	0.24389	B	0.002	0.21540	B	0.000948	0.00714	N	7.592260	1	0.08975	N	0.205	0.09354	N	1.03	0.40469	T	-0.51	0.15986	N	0.132	0.12770	-1.0049	0.28487	T	0.062	0.25780	T	10	0.058633387	0.06923	T	0.004573	0.11283	T	0.025	0.05312	0.216	0.13643	0.141422826196	0.13715	0.19525342462904896	0.19442	0.212132360163	0.23708	0.304152160883	0.11023	T	0.013595	0.11729	T	-0.37777	0.03218	T	-0.597649	0.13010	T	0.0196152205864631	0.00664	T	0.590441	0.21717	T	0.03182752	0.03093	0.04287302	0.05207	0.03182752	0.03093	0.04287302	0.05206	-3.991	0.23669	T	.	.	0.090	0.12891	B	.;.;.	.;.;.	0.216518	0.05992	2.435	0.89427561080289486	0.18787	0.02052	0.06131	N	AEFDBI	0.036205	0.04786	N	-1.1979303155935	0.05031	0.2284312	-1.21056052424474	0.05739	0.2743197	0.00386312418723576	0.10312	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.33	0.092	0.13780	-0.223000	0.09182	-0.739000	0.07628	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4478:0.0:0.5522:0.0	6.145	0.19499	524	0.74079	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1446.14	34	chr17	7719805	.	G	A	1446.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.88;DP=411;ExcessHet=0.2348;FS=0.686;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.05;SOR=0.57	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1002,0,530	8	0	2	0
chr17	7743487	7743487	A	G	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_001303270:exon14:c.A2495G:p.Q832R	.	484	1037	1	0	0	1	0.000481928	.	.	.	3206713	DNAH2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00140679998608	.	0.00159744	0	0	0	0	0	0	0	0	0.0004204	65	154602	rs181090270	0.0020	0.0019	0.0021	0.0018	0.0041	0.0019	0.0018	0.0035	0.0032	0.0004	0.0041	6.173e-05	0	0.0001	0	0.0027	0.0020	1.942e-05	0.0017	0.0017	0.0020	0.0013	0.0029	0.0015	0.0014	0.0023	0.0022	0.0006	0	0.0029	0	0	0	0	0.0026	0.0057	0	.	.	.	0.407	0.14679	T	0.047	0.21998	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	2.24	0.17923	T	.	.	.	0.127	0.12055	-0.9657	0.38073	T	0.014	0.05513	T	7	0.008678377	0.00197	T	0.001407	0.02088	T	.	.	.	.	0.143124449307	0.13826	.	.	.	.	.	.	.	.	.	.	-0.647146	0.00075	T	-0.706348	0.05485	T	0.00128698988812138	0.00013	T	0.0987901	0.00733	T	.	.	.	.	.	.	.	.	-4.43	0.29961	T	.	.	0.113	0.22354	B	.	.	0.521134	0.08901	5.679	0.92574902681718074	0.22031	0.03868	0.09231	N	AEFGBCI	0.026530	0.02009	N	-1.09583471922023	0.06719	0.3101378	-1.24270647892088	0.05240	0.2491991	3.52656956866498E-4	0.06668	0.422189	0.06491	0	0.600433	0.49495	0	0.600433	0.31921	0	0.691587	0.68394	0	.	.	0.976	-0.539	0.11271	0.129000	0.15656	-0.486000	0.08890	0.399000	0.20540	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.5792:0.0:0.0:0.4208	2.767	0.04996	247	0.90334	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	201.45	12	chr17	7743487	.	A	G	201.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=108;ExcessHet=0;FS=3.424;InbreedingCoeff=-0.0541;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=1.06;SOR=2.179	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,274	9	0	1	0
chr17	7764236	7764236	C	T	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon20:c.C3299T:p.A1100V	.	420	1099	3	0	0	3	0.00136302	.	.	.	2814852	not_provided|DNAH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	0.00428526571416	0.0019	0.00159744	0.0018	0.0007	0.0010	0	0.0009	0.0029	0	6.791e-05	0.001824	282	154602	rs146533727	0.0022	0.0022	0.0023	0.0021	0.0026	0.0021	0.0021	0.0026	0.0025	0.0003	0.0013	0.0006	0	0.0010	0.0026	0.0026	0.0019	0.0001	0.0019	0.0019	0.0020	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0006	0	0.0021	0.0012	0	0.0006	0.0068	0.0031	0.0033	0.0006	0.167	0.23095	T	.	.	.	0.032	0.20242	B	0.046	0.24676	B	0.888349	0.07279	N	1.072200	0.961673	0.38248	D	1.975	0.53506	M	1.86	0.24285	T	-2.52	0.54702	D	0.395	0.43610	-1.0856	0.06298	T	0.088	0.33941	T	10	0.014644533	0.00308	T	0.004285	0.10373	T	0.114	0.32008	.	.	0.437850553699	0.43404	0.33954248161697725	0.33867	0.275190507075	0.30004	0.289508849382	0.08850	T	0.231612	0.59798	T	-0.501949	0.00558	T	-0.497782	0.22578	T	0.0313433502590505	0.02201	T	0.709529	0.32034	T	0.06554646	0.14020	0.124509834	0.30010	0.06554646	0.14019	0.124509834	0.30009	-5.892	0.45367	T	.	.	0.120	0.24666	B	.;.	.;.	2.626578	0.34148	19.54	0.99584136865697892	0.73218	0.88062	0.47829	D	AEFDBCI	0.496510	0.53142	N	-0.137227487987935	0.35779	2.059543	-0.0649119117587832	0.36852	2.149991	0.0261956337080102	0.13697	0.497415	0.19182	0	0.59043	0.45803	0	0.315538	0.05692	2	0.542086	0.14980	0	.	.	4.66	3.64	0.40864	5.249000	0.65246	2.158000	0.30961	-0.181000	0.10308	1.000000	0.71638	0.967000	0.29559	0.738000	0.35369	0.0:0.8189:0.181:0.0	11.605	0.50281	222	0.91398	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.005435	0.002924	0.000000	0.008621	0.009146	0.003788	0.05	2119.43	43	chr17	7764236	.	C	T	2119.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.74;DP=516;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.869;SOR=0.875	GT:AD:DP:GQ:PL	0/1:91,93:184:99:2131,0,2194	9	0	1	0
chr17	7801592	7801592	A	G	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_020877:exon57:c.A8714G:p.Q2905R	.	417	1089	14	2	0	18	0.00819672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0165019050901	0.0003	.	0.0006	0	0.0015	0	0	0.0004	0.0022	0.0019	0.0004916	76	154602	rs141017146	0.0003	0.0003	0.0003	0.0004	0.0038	0.0003	0.0003	0.0026	0.0022	2.987e-05	0.0009	0.0013	0	0	0.0038	0.0002	0.0006	0.0019	0.0003	0.0003	0.0003	0.0003	0.0012	0.0002	0.0002	0.0005	0.0004	0	0	0.0006	0.0026	0.0002	0	0	0.0002	0.0014	0.0012	0.141	0.25560	T	.	.	.	0.933	0.52105	P	0.799	0.58136	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.635	0.41844	L	1.08	0.39401	T	-2.22	0.49846	N	0.613	0.65245	-0.9575	0.39644	T	0.131	0.44208	T	10	0.08210328	0.13513	T	0.016502	0.37786	T	0.146	0.38789	.	.	0.589222994759	0.58597	0.6031580204446431	0.60246	0.794087514997	0.65961	0.732793986797	0.71915	T	0.224681	0.58919	T	-0.316166	0.07217	T	-0.23419	0.51364	T	0.0656032526383146	0.08020	T	0.908809	0.67676	D	0.36838683	0.58465	0.47019973	0.69277	0.36838683	0.58465	0.47019973	0.69278	-10.151	0.74811	D	.	.	0.140	0.30791	B	.;.	.;.	4.396834	0.67907	25.2	0.99870480526638605	0.94815	0.98189	0.80377	D	AEFDGBI	0.861356	0.77941	D	0.594581776375814	0.72834	5.868776	0.619407843570241	0.76349	6.474861	0.998832413951843	0.37777	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.37	5.37	0.76949	6.457000	0.73422	11.227000	0.89965	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.331	0.66111	277	0.89083	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.000000	0.05	1716.43	36	chr17	7801592	.	A	G	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.11;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1268	9	0	1	0
chr17	7846860	7846862	ACC	-	exonic	KDM6B	.	nonframeshift deletion	KDM6B:NM_001080424:exon9:c.753_755del:p.P264del,KDM6B:NM_001348716:exon9:c.753_755del:p.P264del	.	.	.	.	.	.	.	.	.	.	.	1290061	not_specified|KDM6B-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0089	0.0034	0.0021	0.0803	0.0006	0.0039	0.0180	0.0056	0.0001617	25	154602	rs771440621	0.0060	0.0049	0.0061	0.0058	0.0867	0.0058	0.0058	0.0841	0.0831	0.0066	0.0025	0.0314	0.0867	0.0007	0.0039	0.0018	0.0129	0.0053	0.0084	0.0075	0.0073	0.0098	0.1173	0.0080	0.0078	0.1088	0.1054	0.0080	0	0.0031	0.0269	0.1173	0.0012	0	0.0017	0.0092	0.0103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	22926.5	69	chr17	7846859	.	TACC	T	22926.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=945;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0;QD=25.31;ReadPosRankSum=-0.565;SOR=1.16	GT:AD:DP:GQ:PL	0/0:0,0:54:77:2379,2311,2268	9	0	1	0
chr17	7858637	7858637	G	C	exonic	CYB5D1	.	nonsynonymous SNV	CYB5D1:NM_001330110:exon3:c.G269C:p.C90S,CYB5D1:NM_144607:exon3:c.G269C:p.C90S	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0160772151447	.	.	0.0001	9.692e-05	0	0	0	1.53e-05	0	0.0010	0.0001229	19	154602	rs566857290	4.059e-05	4.036e-05	2.871e-05	5.263e-05	0.0005	3.197e-05	2.927e-05	0.0004	0.0004	0	0	0	0	0	0.0002	6.326e-06	0.0001	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.299e-05	3.032e-05	0	0	0	0	0	0	0	0	0	0.0004	0.512	0.07449	T	0.295	0.20680	T	0.003	0.12183	B	0.016	0.24256	B	0.007508	0.31355	N	0.362402	0.999974	0.21167	N	2.505	0.72935	M	-1.02	0.76300	T	-4.33	0.76740	D	0.186	0.21710	-0.8163	0.54165	T	0.317	0.68682	T	10	0.03882593	0.02328	T	0.016077	0.37157	T	0.131	0.35738	0.424	0.46857	0.365317461125	0.36143	0.7196526405283803	0.71908	0.817112521783	0.66991	0.284971565008	0.08196	T	0.065136	0.32612	T	-0.36354	0.03933	T	-0.381706	0.35523	T	0.39340603351593	0.28693	T	0.640736	0.25328	T	0.19196096	0.40845	0.25001928	0.50584	0.19196096	0.40845	0.25001928	0.50583	-5.044	0.47525	T	.	.	0.108	0.21653	B	.;.	.;.	1.796726	0.22840	15.78	0.84383997506472885	0.15260	0.26040	0.22877	N	ALL	0.150926	0.27531	N	-0.560142966138661	0.20166	1.061144	-0.50479721072465	0.22022	1.194133	0.999999999043718	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	5.52	1.0	0.18999	1.937000	0.39821	1.949000	0.29874	0.676000	0.76740	0.937000	0.32526	0.891000	0.27831	0.995000	0.73285	0.0783:0.1711:0.7506:0.0	13.258	0.59517	320	0.86992	.;Cytochrome b5-like heme/steroid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1645.43	37	chr17	7858637	.	G	C	1645.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.81;SOR=0.697	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1246	9	0	1	0
chr17	7933165	7933176	AAGTGTCGTCTG	-	exonic	CNTROB	.	nonframeshift deletion	CNTROB:NM_001037144:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_001330124:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_001353202:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_053051:exon1:c.86_97del:p.S31_V34del,CNTROB:NM_001353203:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353206:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353207:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353208:exon2:c.86_97del:p.S31_V34del,CNTROB:NM_001353209:exon2:c.86_97del:p.S31_V34del	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.766e-05	0	8.637e-05	0	0	0	0	0.0004	3.84e-05	1	26028	rs777422309	3.215e-05	3.215e-05	9.528e-06	5.5e-05	0.0005	2.478e-05	2.22e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	318.39	35	chr17	7933164	.	CAAGTGTCGTCTG	C	318.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.38;DP=393;ExcessHet=0;FS=1.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.711;SOR=0.899	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	9	0	1	0
chr17	7934468	7934468	A	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.A359G:p.D120G,CNTROB:NM_001330124:exon3:c.A359G:p.D120G,CNTROB:NM_001353202:exon3:c.A359G:p.D120G,CNTROB:NM_001353205:exon3:c.A92G:p.D31G,CNTROB:NM_053051:exon3:c.A359G:p.D120G,CNTROB:NM_001353203:exon4:c.A359G:p.D120G,CNTROB:NM_001353206:exon4:c.A359G:p.D120G,CNTROB:NM_001353207:exon4:c.A359G:p.D120G,CNTROB:NM_001353208:exon4:c.A359G:p.D120G,CNTROB:NM_001353209:exon4:c.A359G:p.D120G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00523948576971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.07e-06	0.0001	1.374e-06	2.772e-06	2.237e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.237e-05	0	0	0	0	1.818e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.65728	D	0.288	0.32258	B	0.168	0.35187	B	0.021393	0.26843	N	0.301427	0.984455	0.24799	N	1.795	0.47270	L	0.85	0.49358	T	-2.99	0.62630	D	0.272	0.32812	-1.0241	0.22377	T	0.111	0.39770	T	10	0.15230682	0.28772	T	0.005239	0.13371	T	0.044	0.11924	0.309	0.28128	0.451786746415	0.44804	0.381869656442711	0.38101	0.406878868609	0.41558	0.385712146759	0.23063	T	0.144684	0.48144	T	-0.089869	0.38098	T	-0.366867	0.37255	T	0.82710725069046	0.48307	D	0.775922	0.40781	T	0.09874078	0.23293	0.17352399	0.39684	0.09874078	0.23293	0.17352399	0.39683	-2.745	0.07759	T	.	.	0.114	0.22573	B	.;.;.;.;.	.;.;.;.;.	2.237501	0.28571	17.84	0.99668712484583399	0.78458	0.14736	0.18559	N	AEFDBI	0.091790	0.18588	N	-0.600480469983537	0.18930	0.9867874	-0.583204768381323	0.19931	1.071572	0.999976743798361	0.50053	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.07	2.49	0.29274	0.522000	0.22617	3.854000	0.40103	0.756000	0.94297	0.297000	0.25297	0.995000	0.32472	0.658000	0.32913	0.6095:0.2398:0.0:0.1507	6.043	0.18970	693	0.58582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	214.14	34	chr17	7934468	.	A	G	214.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.252;DP=458;ExcessHet=0.2348;FS=56.562;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=1.14;SOR=6.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:71,0:71:53:.:.:0,53,1752:.	8	0	2	0
chr17	7934470	7934470	C	T	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.C361T:p.P121S,CNTROB:NM_001330124:exon3:c.C361T:p.P121S,CNTROB:NM_001353202:exon3:c.C361T:p.P121S,CNTROB:NM_001353205:exon3:c.C94T:p.P32S,CNTROB:NM_053051:exon3:c.C361T:p.P121S,CNTROB:NM_001353203:exon4:c.C361T:p.P121S,CNTROB:NM_001353206:exon4:c.C361T:p.P121S,CNTROB:NM_001353207:exon4:c.C361T:p.P121S,CNTROB:NM_001353208:exon4:c.C361T:p.P121S,CNTROB:NM_001353209:exon4:c.C361T:p.P121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00399080164731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.518	0.18018	T	0.0	0.02946	B	0.003	0.08700	B	0.387036	0.13308	N	0.660748	1	0.08975	N	0.55	0.14455	N	1.46	0.32722	T	-0.77	0.22294	N	0.132	0.12770	-1.0174	0.24560	T	0.036	0.15465	T	10	0.041531652	0.02816	T	0.003991	0.09462	T	0.073	0.21317	0.308	0.27967	0.16115917748	0.15686	0.2522329388106393	0.25137	0.226757036249	0.25220	0.26304256916	0.05258	T	0.007547	0.09450	T	-0.241225	0.15192	T	-0.58428	0.14166	T	0.0219995063794558	0.00909	T	0.651035	0.26183	T	0.02489815	0.01368	0.028258974	0.01046	0.02489815	0.01367	0.028258974	0.01046	-3.353	0.14695	T	.	.	0.064	0.02399	B	.;.;.;.;.	.;.;.;.;.	0.697913	0.10668	7.364	0.88637082526403799	0.18134	0.01619	0.05233	N	AEFDBI	0.046597	0.07756	N	-1.17232079480329	0.05422	0.2471509	-1.16897397632264	0.06434	0.3096923	0.999984060705785	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.07	-3.22	0.04808	-0.365000	0.07626	0.107000	0.14728	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1351:0.2271:0.3622:0.2757	1.656	0.02615	693	0.58582	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	206.14	34	chr17	7934470	.	C	T	206.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.136;DP=437;ExcessHet=0.2348;FS=57.042;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.88;SOR=6.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,105,1753:.	8	0	2	0
chr17	7934471	7934471	C	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.C362G:p.P121R,CNTROB:NM_001330124:exon3:c.C362G:p.P121R,CNTROB:NM_001353202:exon3:c.C362G:p.P121R,CNTROB:NM_001353205:exon3:c.C95G:p.P32R,CNTROB:NM_053051:exon3:c.C362G:p.P121R,CNTROB:NM_001353203:exon4:c.C362G:p.P121R,CNTROB:NM_001353206:exon4:c.C362G:p.P121R,CNTROB:NM_001353207:exon4:c.C362G:p.P121R,CNTROB:NM_001353208:exon4:c.C362G:p.P121R,CNTROB:NM_001353209:exon4:c.C362G:p.P121R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00859113575964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.337e-05	0.0006	2.19e-05	2.486e-05	2.985e-05	1.682e-05	1.485e-05	2.129e-05	1.873e-05	0	0	0	0	0	0	2.985e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.17	0.40267	T	0.372	0.34134	B	0.16	0.34752	B	0.387036	0.13308	N	0.660748	1	0.08975	N	1.445	0.36358	L	1.39	0.34253	T	-1.52	0.37955	N	0.231	0.25989	-1.0510	0.14119	T	0.072	0.29323	T	10	0.07780191	0.12323	T	0.008591	0.22705	T	0.033	0.08068	0.325	0.30711	0.344710718752	0.34073	0.25439590010965324	0.25353	0.417156267166	0.42343	0.296725541353	0.09915	T	0.016269	0.16841	T	-0.149373	0.28408	T	-0.452341	0.27439	T	0.226929381489754	0.21804	T	0.714629	0.32694	T	0.051589303	0.09496	0.055391233	0.09708	0.051589303	0.09495	0.055391233	0.09707	-3.818	0.21253	T	.	.	0.109	0.20819	B	.;.;.;.;.	.;.;.;.;.	1.291841	0.16929	12.85	0.99442245784784034	0.64820	0.08192	0.14152	N	AEFDBI	0.101822	0.20440	N	-0.638349544729057	0.17800	0.9190736	-0.62519937654421	0.18847	1.008602	0.999982481297226	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.16	3.04	0.34171	0.635000	0.24318	1.081000	0.23892	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.597000	0.31313	0.1649:0.7466:0.0:0.0885	8.208	0.30627	693	0.58582	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	199.14	80	chr17	7934471	.	C	G	199.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.992;DP=484;ExcessHet=0.2348;FS=54.053;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=2.08;SOR=6.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,105,1753:.	8	0	2	0
chr17	7935089	7935089	C	A	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon4:c.C538A:p.P180T,CNTROB:NM_001330124:exon4:c.C538A:p.P180T,CNTROB:NM_001353202:exon4:c.C538A:p.P180T,CNTROB:NM_001353205:exon4:c.C271A:p.P91T,CNTROB:NM_053051:exon4:c.C538A:p.P180T,CNTROB:NM_001353203:exon5:c.C538A:p.P180T,CNTROB:NM_001353206:exon5:c.C538A:p.P180T,CNTROB:NM_001353207:exon5:c.C538A:p.P180T,CNTROB:NM_001353208:exon5:c.C538A:p.P180T,CNTROB:NM_001353209:exon5:c.C538A:p.P180T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0060701975517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.327	0.38016	T	1.0	0.90584	D	0.998	0.88582	D	0.005416	0.32823	N	0.209073	1	0.08975	N	1.795	0.47270	L	1.48	0.32238	T	-0.84	0.23156	N	0.435	0.47395	-1.0116	0.26416	T	0.133	0.44524	T	10	0.17097375	0.31791	T	0.00607	0.15875	T	0.062	0.17934	0.302	0.27003	0.427829143865	0.42401	0.5102759321454862	0.50949	0.522034703024	0.49950	0.540040135384	0.44451	T	0.024337	0.18409	T	-0.138659	0.30104	T	-0.436951	0.29149	T	0.672946751117706	0.39469	D	0.813219	0.46599	T	0.077051595	0.17464	0.06602072	0.13465	0.077051595	0.17463	0.06602072	0.13465	-4.348	0.28844	T	.	.	0.085	0.10159	B	.;.;.;.;.	.;.;.;.;.	3.104484	0.41856	21.4	0.99690035924732112	0.79842	0.13684	0.17994	N	AEFBI	0.129166	0.24723	N	0.131782734422001	0.47950	3.01369	0.136414872211035	0.46425	2.888798	0.999977552300402	0.50053	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.45	4.28	0.50183	2.152000	0.41897	3.277000	0.37202	0.599000	0.40250	0.021000	0.19753	0.981000	0.30433	0.959000	0.51448	0.0:0.9029:0.0:0.097	12.074	0.52930	698	0.58074	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1465.43	33	chr17	7935089	.	C	A	1465.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.132;DP=462;ExcessHet=0;FS=2.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=-1.728;SOR=0.755	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1156	9	0	1	0
chr17	8003657	8003657	G	A	exonic	GUCY2D	.	nonsynonymous SNV	GUCY2D:NM_000180:exon2:c.G610A:p.A204T	Cone-rod dystrophy 6, Autosomal dominant;Leber congenital amaurosis 1, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.816675478334	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302566071	2.079e-06	4.788e-06	2.759e-06	1.393e-06	2.703e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.18	0.21968	T	0.132	0.34477	T	0.688	0.41582	P	0.491	0.47360	P	0.024657	0.26225	N	0.185834	1	0.08975	N	1.61	0.41143	L	-1.7	0.83072	D	-1.66	0.39692	N	0.162	0.17002	-0.6393	0.63175	T	0.435	0.77536	T	10	0.45225924	0.58772	T	0.816675	0.98573	D	0.299	0.61955	0.58	0.70604	0.874959654217	0.87373	0.5268405448889866	0.52608	0.25362918265	0.27937	0.757554411888	0.75566	T	0.260974	0.63240	T	-0.06861	0.41549	T	-0.33633	0.40761	T	0.645869672298431	0.38285	D	0.610439	0.23144	T	0.05720993	0.11356	0.1341441	0.32150	0.05720993	0.11356	0.1341441	0.32150	-5.14	0.38326	T	0.23308355097667305	0.31549	0.117	0.23918	B	.	.	3.502775	0.49019	22.7	0.99845357817396474	0.92489	0.28742	0.23636	N	AEFDBI	0.114208	0.22503	N	-0.353846574052284	0.27130	1.486104	-0.441949622610606	0.23777	1.298502	0.981248179270008	0.30237	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	5.19	3.2	0.35826	1.706000	0.37497	9.734000	0.81410	-0.111000	0.15049	0.016000	0.19238	1.000000	0.68203	0.632000	0.32210	0.1628:0.0:0.688:0.1492	6.264	0.20126	712	0.56465	Receptor, ligand binding region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	749.43	34	chr17	8003657	.	G	A	749.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.933;DP=388;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.711;SOR=0.968	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr17	8047001	8047001	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039130:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001039131:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001141:exon10:c.G1382A:p.R461Q	.	427	1054	40	1	0	42	0.0195349	.	.	.	578554	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	.	0.0015	0.00459265	0.0037	0	0.0023	0.0002	0.0005	0.0025	0.0044	0.0153	0.0034346	531	154602	rs140623478	0.0023	0.0023	0.0019	0.0028	0.0151	0.0023	0.0023	0.0145	0.0142	5.974e-05	0.0015	0.0063	0.0004	0.0007	0.0149	0.0014	0.0033	0.0151	0.0017	0.0017	0.0014	0.0020	0.0157	0.0015	0.0014	0.0129	0.0118	0.0002	0	0.0012	0.0026	0.0002	0.0007	0.0102	0.0019	0.0033	0.0157	0.548	0.06627	T	0.799	0.06186	T	0.047	0.21998	B	0.015	0.17295	B	0.318346	0.14314	N	0.693986	1	0.08975	N	1.19	0.30124	L	-1.0	0.89822	T	-0.84	0.22944	N	0.047	0.12913	-1.0231	0.22704	T	0.093	0.35283	T	10	0.004040092	0.00079	T	.	.	.	0.125	0.34456	.	.	0.829266058896	0.82765	0.13121228922708775	0.13046	0.180147681555	0.20266	0.22074136138	0.01353	T	0.037255	0.49159	T	-0.50788	0.00516	T	-0.489987	0.23393	T	0.00877906586440529	0.00108	T	0.675632	0.49916	T	0.17987497	0.39080	0.11099009	0.26769	0.17987497	0.39079	0.11099009	0.26769	-3.913	0.29557	T	.	.	0.066	0.05579	B	.;.;.;.	.;.;.;.	0.863510	0.12360	8.898	0.93370035639790705	0.23114	0.02386	0.06774	N	AEFDBI	0.052326	0.09328	N	-1.02063380860431	0.08176	0.3824504	-0.973970329652777	0.10372	0.5219682	0.462231983486308	0.20634	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	-1.12	0.09306	-0.838000	0.04480	-3.749000	0.02563	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.5309:0.1675:0.3016:0.0	4.854	0.12910	373	0.84140	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.005051	0.005435	0.008772	0.000000	0.017241	0.009146	0.022727	0.05	1175.43	37	chr17	8047001	.	G	A	1175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=441;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.049;SOR=0.521	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1273	9	0	1	0
chr17	8114484	8114484	G	A	exonic	ALOXE3	.	nonsynonymous SNV	ALOXE3:NM_001369446:exon5:c.C677T:p.A226V,ALOXE3:NM_001165960:exon6:c.C1076T:p.A359V,ALOXE3:NM_021628:exon6:c.C680T:p.A227V	Ichthyosis, congenital, autosomal recessive 3, Autosomal recessive	2	1516	4	0	0	4	0.00131752	0.0343	0.316	YES	797624	Autosomal_recessive_congenital_ichthyosis_3|not_provided	MONDO:MONDO:0011680,MedGen:C3539888,OMIM:606545|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.443	0.0929278099463	.	.	0.0002	0	8.64e-05	0	0	0.0001	0.0011	0.0008	0.0001682	26	154602	rs199981318	0.0002	0.0002	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0009	0	6.708e-05	0	0	0	0.0010	0.0002	0.0002	0.0011	5.264e-05	5.253e-05	5.145e-05	5.388e-05	0.0002	2.56e-05	1.832e-05	1.973e-05	1.125e-05	4.835e-05	0	0	0	0	0	0	5.885e-05	0.0005	0.0002	0.078	0.46129	T	0.084	0.41239	T	0.111	0.26235	B	0.029	0.21540	B	0.291429	0.14762	N	0.664999	0.763107	0.34062	D	1.485	0.37223	L	-2.67	0.90332	D	-1.9	0.44284	N	0.273	0.30914	0.151	0.85080	D	0.621	0.86638	D	9	0.12192729	0.23122	T	0.092928	0.75981	D	0.443	0.74588	.	.	0.940565244598	0.93994	0.2756544525761791	0.27478	0.248281453922	0.27391	0.451162785292	0.32103	T	0.118623	0.43958	T	-0.240948	0.15227	T	-0.179479	0.56571	T	0.0447214661413578	0.04551	T	0.626337	0.24237	T	0.0734038	0.16401	0.11934262	0.28806	0.0734038	0.16400	0.11934262	0.28805	-4.347	0.28982	T	.	.	0.146	0.40618	B	.;.;.	.;.;.	3.701581	0.52801	23.3	0.99719837205035955	0.81984	0.87722	0.47358	D	AEFBI	0.278409	0.39270	N	-0.000730473740849141	0.41823	2.508524	0.0670413260584502	0.42903	2.60332	0.0774252180848599	0.15758	0.625279	0.40028	0	0.60822	0.50512	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	4.46	3.49	0.39065	2.862000	0.48087	3.038000	0.36069	0.676000	0.76740	0.998000	0.41325	0.999000	0.35428	0.919000	0.45453	0.1:0.0:0.7065:0.1934	5.670	0.16989	344	0.85734	Lipoxygenase, C-terminal;Lipoxygenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1632.43	36	chr17	8114484	.	G	A	1632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.051;DP=464;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.881;SOR=0.65	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1186	9	0	1	0
chr17	8190006	8190006	C	G	exonic	BORCS6	.	nonsynonymous SNV	BORCS6:NM_017622:exon1:c.G135C:p.E45D	.	431	1071	18	2	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00319489	0.0036	0.0011	0	0	0	0.0089	0.0068	0.0010	0.0013648	211	154602	rs150061068	0.0069	0.0066	0.0071	0.0067	0.0128	0.0068	0.0068	0.0104	0.0096	0.0012	0.0051	0.0093	0	0.0019	0.0128	0.0080	0.0060	0.0011	0.0056	0.0056	0.0059	0.0052	0.0085	0.0053	0.0052	0.0080	0.0077	0.0011	0.0746	0.0061	0.0060	0	0.0023	0.0136	0.0085	0.0052	0.0004	0.125	0.27310	T	0.337	0.18178	T	0.001	0.07471	B	0.002	0.06944	B	0.978690	0.07826	N	1.011480	0.992954	0.23796	N	.	.	.	.	.	.	-0.4	0.13805	N	0.053	0.02462	-1.0513	0.14036	T	0.052	0.22230	T	9	0.002304107	0.00034	T	.	.	.	0.032	0.07718	0.085	0.00830	0.0297737177859	0.01360	0.041514215577226815	0.04096	.	.	.	.	.	0.015219	0.12811	T	-0.56078	0.00251	T	-0.567267	0.15701	T	0.00322562584797078	0.00034	T	0.39616	0.09972	T	0.18345293	0.39614	0.106888495	0.25722	0.18345293	0.39614	0.106888495	0.25721	-4.148	0.25995	T	.	.	0.122	0.25364	B	.	.	2.703800	0.35325	19.87	0.98046052755489688	0.37828	0.79552	0.39442	D	AEFDGBHCI	0.229668	0.35316	N	-0.347921726466887	0.27348	1.499767	-0.172241020791311	0.32563	1.853794	0.99999999267464	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.372554	0.06265	0	.	.	4.97	3.99	0.45527	1.536000	0.35678	1.309000	0.25526	0.524000	0.24156	0.510000	0.27033	0.999000	0.35428	0.814000	0.38357	0.0:0.819:0.181:0.0	11.501	0.49684	326	0.86709	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014223	0.005618	0.005556	0.026786	0.083333	0.000000	0.005376	0.022727	0.05	475.43	45	chr17	8190006	.	C	G	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.047;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=0.236;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,984	9	0	1	0
chr17	8235853	8235853	A	G	exonic	CTC1	.	nonsynonymous SNV	CTC1:NM_025099:exon7:c.T1184C:p.M395T	Cerebroretinal microangiopathy with calcifications and cysts, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	846634	Dyskeratosis_congenita	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.0476520501272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1417486388	6.846e-07	6.84e-07	0	1.377e-06	.	0	0	.	.	0	0	3.829e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.029	0.54541	D	0.031	0.20130	B	0.016	0.17743	B	0.407305	0.13044	N	0.713476	0.999718	0.20609	N	1.61	0.41143	L	-1.69	0.82985	D	-3.02	0.62630	D	0.5	0.53269	-0.6188	0.64038	T	0.356	0.71912	T	10	0.40931445	0.56114	T	0.047652	0.63020	D	0.365	0.68495	0.387	0.40788	0.479286488449	0.47557	0.6632067814743121	0.66257	0.160219008645	0.18072	0.417864620686	0.27544	T	0.621046	0.88122	D	0.0566331	0.59190	T	-0.156427	0.58671	T	0.245545014933904	0.22672	T	0.643236	0.25495	T	0.44489202	0.63716	0.2564902	0.51349	0.44489202	0.63717	0.2564902	0.51349	-5.694	0.43640	T	.	.	.	.	.	.	.	3.011652	0.40274	21.1	0.95491330722889711	0.27068	0.92914	0.56858	D	AEFBI	0.358132	0.44892	N	-0.206314199471377	0.32874	1.858838	-0.069454486435384	0.36660	2.136315	0.980153280904849	0.30104	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.67	4.67	0.58089	5.384000	0.65976	9.273000	0.79652	0.688000	0.82842	0.996000	0.39380	1.000000	0.68203	0.158000	0.20581	1.0:0.0:0.0:0.0	10.667	0.44931	456	0.79013	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	936.43	33	chr17	8235853	.	A	G	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.587;DP=397;ExcessHet=0;FS=0.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.154;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	9	0	1	0
chr17	8758289	8758289	C	G	exonic	SPDYE4	.	nonsynonymous SNV	SPDYE4:NM_001128076:exon1:c.G94C:p.V32L	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00207970056405	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	1.29e-05	2	154602	rs753294467	5.736e-06	5.472e-06	4.243e-06	7.273e-06	0.0002	2.47e-06	1.78e-06	2.47e-05	1.558e-05	0	0	0	0	0	0.0002	1.858e-06	0	6.402e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.20532	T	0.364	0.16766	T	0.01	0.15535	B	0.003	0.08700	B	0.093822	0.02481	N	2.194420	1	0.08975	N	1.935	0.51832	L	.	.	.	-1.08	0.28084	N	0.072	0.04547	-1.0506	0.14230	T	0.113	0.40284	T	9	0.05412531	0.05713	T	0.00208	0.03828	T	0.047	0.12962	0.113	0.02240	0.0716867268079	0.06686	0.03652766891392506	0.03599	0.0837041349746	0.09440	0.358336269855	0.19143	T	0.010417	0.09410	T	-0.44538	0.01202	T	-0.677862	0.07115	T	0.0689558833837509	0.08504	T	0.576842	0.20728	T	0.063118204	0.13256	0.06478474	0.13036	0.063118204	0.13256	0.06478474	0.13036	-3.666	0.18818	T	.	.	0.149	0.32945	B	.	.	0.531314	0.09002	5.782	0.41692720382868942	0.03025	0.02174	0.06371	N	AEFDGBI	0.041717	0.06380	N	-1.12712031396996	0.06165	0.2830503	-1.23459977144021	0.05363	0.2553384	0.00152814949545363	0.08613	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.65	-3.15	0.04912	0.140000	0.15877	-1.468000	0.05371	-0.339000	0.05715	0.722000	0.28841	0.000000	0.08366	0.024000	0.12247	0.0:0.4878:0.2192:0.293	4.422	0.10911	840	0.37365	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1330.43	38	chr17	8758289	.	C	G	1330.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.353;DP=453;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.289;SOR=0.645	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	9	0	1	0
chr17	8797401	8797401	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G1720A:p.D574N	.	429	1064	28	1	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	.	0.0079	0.00539137	0.0055	0.0133	0.0050	0.0001	0.0011	0.0044	0.0073	0.0120	0.0050517	781	154602	rs78093130	0.0046	0.0046	0.0044	0.0049	0.0182	0.0045	0.0045	0.0153	0.0143	0.0132	0.0061	0.0093	2.52e-05	0.0007	0.0182	0.0039	0.0068	0.0105	0.0075	0.0075	0.0075	0.0075	0.0134	0.0071	0.0070	0.0125	0.0121	0.0134	0	0.0112	0.0095	0.0002	0.0009	0.0340	0.0042	0.0142	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.865	0.83145	M	0.24	0.59583	T	-2.21	0.49684	N	0.756	0.75466	-0.3725	0.72885	T	0.297	0.66811	T	10	0.0095127225	0.00214	T	.	.	.	0.224	0.52174	.	.	0.286848849266	0.28300	0.5179236485926154	0.51715	0.543095098763	0.51396	0.44236305356	0.30900	T	0.158371	0.50136	T	-0.463985	0.00928	T	-0.426935	0.30284	T	0.0243137189435951	0.01184	T	0.79532	0.43818	T	0.43405905	0.63017	0.42509794	0.66329	0.43405905	0.63018	0.42509794	0.66329	-4.626	0.32497	T	.	.	0.301	0.53032	B	.	.	4.566878	0.72014	25.8	0.99921911490346371	0.98787	0.97379	0.74376	D	AEFDGBCI	0.845194	0.76211	D	0.730967522348583	0.81665	7.575155	0.69538486868589	0.82028	7.666637	0.999998679757311	0.74766	0.486886	0.10167	0	0.552637	0.17590	0	0.49644	0.08281	0	0.478617	0.07155	0	.	.	5.03	5.03	0.67015	6.696000	0.74423	3.791000	0.39830	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.641000	0.32449	0.0:1.0:0.0:0.0	17.306	0.87082	803	0.44167	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.021148	0.040404	0.027174	0.014620	0.050000	0.025862	0.018293	0.003788	0.05	1857.43	34	chr17	8797401	.	C	T	1857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.253;DP=538;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.219;SOR=0.749	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1196	9	0	1	0
chr17	8797850	8797850	A	-	exonic	MFSD6L	.	frameshift deletion	MFSD6L:NM_152599:exon1:c.1271delT:p.L424Cfs*15	.	428	1061	31	2	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs772162369	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0022	0.0021	0.0133	0.0020	0.0019	0.0107	0.0097	0.0008	0	0.0009	0.0032	0.0002	0	0.0136	0.0029	0.0033	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2621.39	34	chr17	8797849	.	CA	C	2621.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=839;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.022;SOR=0.493	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	9	0	1	0
chr17	8797853	8797855	GTA	-	exonic	MFSD6L	.	nonframeshift deletion	MFSD6L:NM_152599:exon1:c.1266_1268del:p.T423del	.	428	1060	32	2	0	36	0.0166976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs773237450	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0023	0.0021	0.0133	0.0020	0.0019	0.0107	0.0098	0.0008	0	0.0009	0.0032	0.0002	0	0.0136	0.0029	0.0033	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2605.39	34	chr17	8797852	.	TGTA	T	2605.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.126;DP=839;ExcessHet=0;FS=3.415;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.025;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	9	0	1	0
chr17	8797856	8797856	G	C	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1265G:p.A422G	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0167513740792	.	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs771825207	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0022	0.0021	0.0133	0.0020	0.0019	0.0107	0.0097	0.0008	0	0.0009	0.0032	0.0002	0	0.0136	0.0029	0.0033	0.0133	0.21	0.19639	T	0.053	0.47336	T	0.001	0.07471	B	0.003	0.08700	B	0.860551	0.07113	N	1.076950	1	0.08975	N	0.805	0.20218	L	-0.81	0.73949	T	-0.17	0.09627	N	0.056	0.02759	-0.9251	0.44844	T	0.189	0.54005	T	10	0.0035704672	0.00064	T	0.016751	0.38152	T	0.086	0.25016	.	.	0.0297737177859	0.01360	0.20310200538486006	0.20227	0.112745788299	0.12728	0.311051726341	0.12065	T	0.001148	0.00651	T	-0.502294	0.00555	T	-0.492782	0.23099	T	0.0126158326934149	0.00211	T	0.30297	0.05734	T	0.040636756	0.05837	0.04083312	0.04502	0.040636756	0.05836	0.04083312	0.04502	-3.505	0.16501	T	.	.	0.082	0.08657	B	.	.	0.662750	0.10309	7.043	0.58173022797346396	0.05933	0.12495	0.17304	N	AEFBCI	0.141001	0.26306	N	-1.18114167878911	0.05286	0.240583	-1.14709652893609	0.06820	0.3295997	0.295297464218477	0.19131	0.614807	0.35715	0	0.577304	0.33150	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.05	3.0	0.33773	0.935000	0.28523	1.619000	0.27677	-0.722000	0.03793	0.001000	0.13787	0.003000	0.18671	0.002000	0.04165	0.0989:0.1619:0.4073:0.332	2.418	0.04171	803	0.44167	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2599.43	34	chr17	8797856	.	G	C	2599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.731;DP=839;ExcessHet=0;FS=3.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.037;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	9	0	1	0
chr17	8797859	8797861	TTG	-	exonic	MFSD6L	.	nonframeshift deletion	MFSD6L:NM_152599:exon1:c.1260_1262del:p.F420_K421delinsL	.	429	1059	32	2	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0020	0.0005	0.0007	0	0	0.0015	0.0022	0.0078	0.0003074	8	26028	rs766497350	0.0035	0.0035	0.0032	0.0039	0.0146	0.0035	0.0034	0.0121	0.0115	0.0005	0.0010	0.0042	0.0002	0.0002	0.0146	0.0032	0.0036	0.0124	0.0022	0.0022	0.0023	0.0021	0.0133	0.0020	0.0019	0.0107	0.0098	0.0008	0	0.0009	0.0032	0.0002	0	0.0137	0.0029	0.0033	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2581.39	34	chr17	8797858	.	TTTG	T	2581.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.962;DP=849;ExcessHet=0;FS=2.578;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=0.769;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,102,1530:.	9	0	1	0
chr17	8797926	8797926	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G1195A:p.G399S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00561956116928	0.0027	0.00299521	0.0034	0.0021	0.0012	0.0031	0.0011	0.0031	0.0033	0.0079	0.0031694	490	154602	rs138080986	0.0035	0.0035	0.0032	0.0037	0.0106	0.0034	0.0034	0.0085	0.0081	0.0024	0.0019	0.0001	0.0081	0.0007	0.0106	0.0032	0.0033	0.0088	0.0028	0.0028	0.0028	0.0028	0.0067	0.0026	0.0025	0.0049	0.0042	0.0019	0	0.0035	0	0.0050	0.0009	0.0103	0.0031	0.0047	0.0067	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.091935	0.20300	N	0.522168	0.997606	0.22589	N	-2.035	0.00180	N	-1.05	0.76690	T	2.3	0.00290	N	0.077	0.05162	-0.9137	0.46390	T	0.058	0.24279	T	10	0.0037046075	0.00068	T	0.00562	0.14530	T	0.093	0.26882	.	.	0.0716867268079	0.06686	0.08918031029610947	0.08851	0.111762492413	0.12611	0.29768538475	0.10056	T	0.002332	0.01729	T	-0.51422	0.00475	T	-0.505727	0.21754	T	0.00011221515064836	0.00001	T	0.572743	0.20478	T	0.031209076	0.02920	0.046836205	0.06615	0.031209076	0.02919	0.046836205	0.06615	-0.666	0.00695	T	.	.	0.052	0.00207	B	.	.	0.820028	0.11909	8.475	0.83042996265959756	0.14511	0.13705	0.18006	N	AEFBCI	0.072097	0.14377	N	-1.55569078752474	0.01502	0.06556224	-1.37378368282263	0.03534	0.1650236	0.122144839200761	0.16907	0.614807	0.35715	0	0.552637	0.17590	0	0.616094	0.41390	0	0.530356	0.10902	0	.	.	5.4	0.306	0.15053	1.627000	0.36661	-0.355000	0.09716	-0.167000	0.11441	0.982000	0.35529	0.010000	0.20010	0.691000	0.33868	0.0:0.2986:0.136:0.5655	5.590	0.16579	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.05	3533.43	34	chr17	8797926	.	C	T	3533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.736;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.48;SOR=0.705	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr17	8797997	8797997	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1124T:p.T375I	.	428	1069	24	1	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0204920011081	0.0028	0.00179712	0.0031	0.0021	0.0012	0.0001	0.0011	0.0031	0.0033	0.0076	0.0029236	452	154602	rs111767864	0.0032	0.0032	0.0029	0.0034	0.0106	0.0031	0.0031	0.0085	0.0079	0.0024	0.0019	0.0001	2.519e-05	0.0007	0.0106	0.0031	0.0032	0.0086	0.0026	0.0026	0.0027	0.0025	0.0062	0.0024	0.0023	0.0045	0.0039	0.0020	0	0.0035	0	0.0002	0.0009	0.0103	0.0030	0.0047	0.0062	0.078	0.33923	T	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.005984	0.32354	N	0.239860	1	0.08975	N	-0.345	0.03330	N	-2.02	0.85542	D	0.66	0.02297	N	0.1	0.08227	-0.8602	0.51249	T	0.250	0.61912	T	10	0.008372992	0.00190	T	0.020492	0.43095	T	0.180	0.45073	.	.	0.12205267543	0.11705	0.19717208777668382	0.19634	0.121136093856	0.13646	0.263680249453	0.05336	T	0.002572	0.01964	T	-0.408257	0.02042	T	-0.3538	0.38770	T	0.00563107565943834	0.00061	T	0.309269	0.05988	T	0.037358418	0.04774	0.04124991	0.04644	0.037358418	0.04773	0.04124991	0.04643	-2.543	0.06082	T	.	.	0.083	0.09336	B	.	.	0.772079	0.11419	8.030	0.92407789139020891	0.21822	0.02169	0.06362	N	AEFDBCI	0.040116	0.05921	N	-1.12414462355394	0.06216	0.2855444	-1.035878896473	0.09003	0.4455951	0.980862851411514	0.30187	0.615465	0.37627	0	0.552637	0.17590	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.12	4.05	0.46415	2.458000	0.44671	3.742000	0.39654	-0.040000	0.17491	0.094000	0.22667	0.992000	0.31684	0.001000	0.02609	0.8417:0.0:0.1583:0.0	8.665	0.33280	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.05	2848.43	34	chr17	8797997	.	G	A	2848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.54;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.225;SOR=0.714	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr17	8798496	8798496	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G625A:p.A209T	.	429	1068	24	1	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00876814844764	0.0025	0.00119808	0.0026	0.0021	0.0012	0	0.0011	0.0025	0.0023	0.0067	0.002348	363	154602	rs144238966	0.0024	0.0024	0.0022	0.0026	0.0096	0.0024	0.0023	0.0076	0.0068	0.0020	0.0019	0.0001	0	0.0006	0.0096	0.0023	0.0025	0.0071	0.0021	0.0021	0.0022	0.0020	0.0043	0.0019	0.0018	0.0029	0.0025	0.0019	0	0.0035	0	0	0.0009	0.0136	0.0021	0.0043	0.0043	0.595	0.05720	T	0.624	0.07342	T	0.094	0.25382	B	0.062	0.26930	B	0.469240	0.04916	N	1.320320	1	0.08975	N	0.75	0.19020	N	0.79	0.49068	T	-0.5	0.15782	N	0.028	0.00618	-1.0516	0.13954	T	0.071	0.29066	T	10	0.0038802028	0.00073	T	0.008768	0.23147	T	0.041	0.10877	.	.	0.0297737177859	0.01360	0.30546399118235157	0.30459	0.118892422166	0.13393	0.219524219632	0.01283	T	5.27E-4	0.00201	T	-0.676591	0.00050	T	-0.741485	0.03829	T	0.00150702798559193	0.00015	T	0.374863	0.08927	T	0.048184883	0.08357	0.051021103	0.08128	0.048184883	0.08356	0.051021103	0.08128	-2.745	0.07689	T	.	.	0.071	0.03849	B	.	.	-0.381365	0.02283	0.238	0.66048443197865359	0.07946	0.07869	0.13860	N	AEFDBCI	0.091390	0.18511	N	-1.10575227081603	0.06540	0.3013409	-1.17609213568694	0.06311	0.3033808	0.997959651820398	0.36237	0.652421	0.48094	0	0.552637	0.17590	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.86	-2.6	0.05830	-1.340000	0.02756	-1.097000	0.06340	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1283:0.3697:0.252:0.25	1.641	0.02586	808	0.43318	Major facilitator superfamily associated domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.008152	0.011696	0.050000	0.017241	0.012195	0.003788	0.05	2842.43	37	chr17	8798496	.	C	T	2842.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=564;ExcessHet=0;FS=0.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.811;SOR=0.633	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr17	8798924	8798924	C	G	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G197C:p.C66S	.	434	1087	1	0	0	1	0.00045977	.	.	.	4166699	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.315	0.0466680456684	.	.	8.29e-05	0	0	0	0	0	0.0011	0.0006	6.47e-05	10	154602	rs145172030	3.968e-05	3.967e-05	2.451e-05	5.502e-05	0.0006	3.113e-05	2.847e-05	0.0005	0.0004	0	0	0	0	0	0	4.497e-06	0	0.0006	2.628e-05	2.627e-05	0	5.379e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.989e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.113	0.28772	T	0.013	0.63109	D	0.608	0.39540	P	0.372	0.43610	B	0.045513	0.23530	N	0.409870	0.991891	0.23967	N	2.615	0.76484	M	-2.18	0.86722	D	-3.37	0.66665	D	0.296	0.33469	-0.4763	0.69501	T	0.531	0.82602	D	10	0.19625342	0.35509	T	0.046668	0.62564	D	0.315	0.63694	0.657	0.79482	0.225902525712	0.22197	0.5047815510442809	0.50400	0.338961400606	0.35858	0.477749764919	0.35747	T	0.025271	0.18927	T	-0.239428	0.15423	T	-0.245439	0.50265	T	0.238283216953278	0.22340	T	0.518348	0.16810	T	0.2076074	0.42972	0.2388052	0.49212	0.2076074	0.42972	0.2388052	0.49211	-2.149	0.03800	T	.	.	0.225	0.45617	B	.	.	3.352270	0.46239	22.3	0.87808142508576992	0.17497	0.67521	0.33463	D	AEFDBHCI	0.193814	0.32092	N	-0.253875636709889	0.30948	1.730608	-0.26124798772405	0.29387	1.645958	0.999999842578102	0.74766	0.72623	0.87236	0	0.577304	0.33150	0	0.594344	0.31042	0	0.530356	0.10902	0	.	.	4.68	2.7	0.31007	3.202000	0.50769	7.368000	0.58381	-0.173000	0.11020	0.978000	0.35038	1.000000	0.68203	0.763000	0.36255	0.0:0.7665:0.15:0.0834	8.999	0.35231	813	0.42397	Major facilitator superfamily associated domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1232.43	37	chr17	8798924	.	C	G	1232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.973;DP=465;ExcessHet=0;FS=0.745;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.265;SOR=0.811	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr17	8880727	8880727	G	A	exonic	PIK3R5	.	nonsynonymous SNV	PIK3R5:NM_001251852:exon18:c.C1397T:p.T466M,PIK3R5:NM_001251853:exon18:c.C1397T:p.T466M,PIK3R5:NM_001251855:exon18:c.C1397T:p.T466M,PIK3R5:NM_001142633:exon19:c.C2555T:p.T852M,PIK3R5:NM_001251851:exon19:c.C1397T:p.T466M,PIK3R5:NM_014308:exon19:c.C2555T:p.T852M	Ataxia-oculomotor apraxia 3, Autosomal recessive	408	1112	2	0	0	2	0.000898473	.	.	.	2406175	Ataxia_with_oculomotor_apraxia_type_3	MONDO:MONDO:0014084,MedGen:C3554690,OMIM:615217,Orphanet:64753	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.200	0.0440062907178	0.0003	.	0.0002	0.0002	8.702e-05	0	0	0.0003	0	0.0002	0.0002523	39	154602	rs148129311	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0003	0.0003	2.987e-05	0.0002	0	0	1.873e-05	0.0007	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0003	0.0002	4.81e-05	0	0.0005	0	0	0	0	0.0003	0	0.0002	0.085	0.32769	T	0.05	0.48080	T	0.7	0.41856	P	0.193	0.36509	B	0.248891	0.15553	N	0.667331	1	0.08975	N	0	0.06538	N	-1.12	0.77593	T	-0.08	0.08187	N	0.08	0.13484	-0.8948	0.48502	T	0.160	0.49397	T	10	0.05252403	0.05301	T	0.044006	0.61272	D	0.200	0.48430	.	.	0.134007934775	0.12933	0.18507601046411334	0.18425	0.81345045591	0.66836	0.30463501811	0.11096	T	0.171289	0.51935	T	-0.346147	0.04974	T	-0.433272	0.29565	T	0.0144643313686657	0.00293	T	0.359864	0.08266	T	0.020625982	0.00628	0.034706164	0.02585	0.020625982	0.00627	0.034706164	0.02585	-6.817	0.58464	T	0.10830117864355276	0.08913	0.068	0.03060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.473105	0.08429	5.183	0.63569607272807938	0.07258	0.16103	0.19233	N	AEFDBCI	0.301552	0.41004	N	-0.991556056152289	0.08783	0.4131583	-1.0772658222326	0.08148	0.3994175	8.91697150808222E-4	0.07974	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.17	-1.65	0.07849	0.118000	0.15436	-2.353000	0.03861	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.483:0.2387:0.2784	5.776	0.17547	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1173.43	37	chr17	8880727	.	G	A	1173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.72;DP=429;ExcessHet=0;FS=2.821;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=0.157;SOR=1.061	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	9	0	1	0
chr17	9600164	9600164	C	T	exonic	CFAP52	.	nonsynonymous SNV	CFAP52:NM_001080556:exon5:c.C530T:p.A177V,CFAP52:NM_145054:exon6:c.C734T:p.A245V	.	433	1088	1	0	0	1	0.000459348	.	.	.	998130	Situs_inversus|not_specified	Human_Phenotype_Ontology:HP:0001696,MONDO:MONDO:0010029,MedGen:C4551493,Orphanet:101063|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.004	0.0796174494585	0.0002	0.000199681	0.0003	9.612e-05	8.637e-05	0.0002	0	0.0005	0.0011	0	0.0002717	42	154602	rs146845939	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	0.0002	0.0002	0.0002	0	0	0.0004	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	0.0001	0	6.543e-05	0.0003	0.0004	0	0	0.0004	0	0	0.784	0.03631	T	0.31	0.19721	T	0.001	0.07471	B	0.002	0.06944	B	0.032047	0.01747	N	1.894180	1	0.08975	N	.	.	.	-2.55	0.89561	D	-0.62	0.18670	N	0.116	0.10483	-0.5802	0.65609	T	0.402	0.75309	T	10	0.015265524	0.00320	T	0.079617	0.73276	D	0.004	0.00165	.	.	0.0611884634855	0.05136	0.18415358526265754	0.18334	0.0998433146772	0.11279	0.305788010359	0.11271	T	0.023701	0.18043	T	-0.467747	0.00878	T	-0.575513	0.14947	T	0.00285619285100528	0.00030	T	0.322368	0.06563	T	0.027074432	0.01850	0.03501601	0.02673	0.027074432	0.01849	0.03501601	0.02672	-1.016	0.01132	T	.	.	0.066	0.02797	B	.;.	.;.	-0.946188	0.00851	0.030	0.64780506705715379	0.07588	0.00525	0.02440	N	AEFDI	0.029829	0.02888	N	-1.89337745688212	0.00354	0.01521652	-1.9570043181808	0.00376	0.01662068	0.117305818003433	0.16798	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.77	-8.43	0.00833	-1.337000	0.02764	-8.090000	0.01030	-1.542000	0.00977	0.000000	0.06391	0.000000	0.08366	0.531000	0.29730	0.1743:0.4252:0.0:0.4004	8.169	0.30401	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1329.43	35	chr17	9600164	.	C	T	1329.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.908;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=1.23;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1177	9	0	1	0
chr17	9645841	9645841	C	T	exonic	USP43	.	nonsynonymous SNV	USP43:NM_001267576:exon1:c.C209T:p.A70V,USP43:NM_153210:exon1:c.C209T:p.A70V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0673254793348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181736655	1.6e-06	4.241e-05	0	3.286e-06	.	2.7e-07	1e-07	.	.	0	0	0	0	2.346e-05	0	0	1.955e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.155	0.32040	T	0.056	0.22806	B	0.016	0.17743	B	0.899175	0.07344	U	1.057340	1	0.08975	N	1.04	0.26193	L	2.7	0.12162	T	-0.33	0.12472	N	0.048	0.01999	-0.9438	0.42009	T	0.018	0.07282	T	10	0.07663232	0.11996	T	0.067325	0.70132	D	0.013	0.01715	0.328	0.31196	0.27479166964	0.27093	0.17331086488073058	0.17251	0.913928028628	0.71167	0.76846164465	0.77195	T	0.014954	0.12634	T	-0.305317	0.08167	T	-0.676343	0.07208	T	0.080640934572888	0.10069	T	0.427357	0.11519	T	0.027148085	0.01866	0.042653605	0.05131	0.027148085	0.01866	0.042653605	0.05131	-5.152	0.38533	T	.	.	0.085	0.11845	B	.;.	.;.	1.306285	0.17090	12.95	0.99153343225723745	0.53875	0.04835	0.10564	N	AEFDGBCI	0.069830	0.13840	N	-1.35423480653956	0.03081	0.1370844	-1.39869151300764	0.03266	0.1520079	0.999998271387314	0.74766	0.495885	0.18260	0	0.475579	0.06741	0	0.231153	0.04653	2	0.554799	0.18163	0	.	.	4.5	-4.29	0.03465	-0.095000	0.11043	0.165000	0.15451	-0.391000	0.05343	0.000000	0.06391	0.001000	0.17328	0.546000	0.30079	0.3534:0.2731:0.3734:0.0	8.946	0.34919	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	632.43	36	chr17	9645841	.	C	T	632.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.561;DP=322;ExcessHet=0;FS=5.301;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.57;ReadPosRankSum=-1.77;SOR=0.206	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,547	9	0	1	0
chr17	9728356	9728356	G	T	exonic	USP43	.	nonsynonymous SNV	USP43:NM_001267576:exon15:c.G2723T:p.R908M,USP43:NM_153210:exon15:c.G2738T:p.R913M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0147270479148	.	.	1.965e-05	0	0	0	0	3.511e-05	0	0	1.94e-05	3	154602	rs773610064	1.166e-05	1.163e-05	8.185e-06	1.518e-05	4.545e-05	7.1e-06	5.81e-06	8.11e-06	6.43e-06	0	4.545e-05	0	0	0	0	1.351e-05	0	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	6.546e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.546e-05	0	0	0	0	4.41e-05	0	0	0.01	0.56456	D	0.071	0.52727	T	0.972	0.57405	D	0.667	0.53020	P	0.000001	0.00162	N	12.206800	0.978782	0.25225	N	1.1	0.28011	L	2.71	0.12055	T	-1.6	0.38540	N	0.516	0.54671	-1.0446	0.15942	T	0.077	0.30676	T	10	0.22507119	0.39327	T	0.014727	0.35036	T	0.132	0.35948	0.333	0.32005	0.583928190899	0.58065	0.34833392378938766	0.34747	0.38726876946	0.40007	0.281479179859	0.07699	T	0.03381	0.23067	T	-0.274433	0.11268	T	-0.452909	0.27374	T	0.177551135420799	0.19079	T	0.559944	0.20183	T	0.12785153	0.29907	0.086345784	0.19998	0.12785153	0.29907	0.086345784	0.19997	-4.455	0.30296	T	.	.	0.190	0.43325	B	.;.;.	.;.;.	3.014527	0.40329	21.1	0.96201864181289964	0.29025	0.66746	0.33186	D	AEFDBI	0.134774	0.25489	N	0.342997482747245	0.58371	4.008883	0.262277554265598	0.53351	3.504473	0.00178127063303742	0.08881	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.4	4.37	0.51830	2.444000	0.44549	3.853000	0.40098	-0.123000	0.13640	0.812000	0.29879	1.000000	0.68203	0.084000	0.17470	0.1082:0.0:0.8918:0.0	8.177	0.30450	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1300.43	33	chr17	9728356	.	G	T	1300.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.22;DP=471;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=1.07;SOR=0.632	GT:AD:DP:GQ:PL	0/1:93,56:149:99:1312,0,2377	9	0	1	0
chr17	9854540	9854540	G	A	exonic	GLP2R	.	nonsynonymous SNV	GLP2R:NM_004246:exon5:c.G550A:p.V184M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.0226394451289	.	.	1.647e-05	9.61e-05	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs755555439	1.643e-05	1.779e-05	1.499e-05	1.789e-05	0.0002	1.112e-05	9.34e-06	8.862e-05	6.428e-05	5.978e-05	0.0002	0	5.038e-05	0	0.0002	7.202e-06	1.657e-05	2.32e-05	1.314e-05	1.97e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.017	0.51248	D	0.03	0.60337	D	0.999	0.77913	D	0.946	0.68276	D	0.002790	0.35935	N	0.000000	0.719051	0.34740	D	2.77	0.80896	M	0.25	0.59449	T	-2.16	0.48850	N	0.639	0.66358	-0.2169	0.77234	T	0.343	0.70818	T	10	0.52014196	0.62595	D	0.022639	0.45547	T	0.349	0.67049	0.758	0.88730	0.876816187472	0.87561	0.6075084692550501	0.60682	0.96159394134	0.73036	0.431532740593	0.29418	T	0.347138	0.71530	T	-0.083006	0.39223	T	-0.0877091	0.64335	T	0.508042573928833	0.32925	D	0.880612	0.62701	D	0.11568656	0.27297	0.14238502	0.33874	0.11568656	0.27296	0.14238502	0.33873	-6.745	0.52148	T	.	.	0.141	0.30945	B	.;.;.	.;.;.	5.225633	0.87713	29.3	0.96291396989934952	0.29315	0.89273	0.49638	D	AEFDBI	0.223558	0.34790	N	0.693251569187826	0.79190	7.025691	0.628401266297732	0.77012	6.597964	6.76252899219877E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.03	3.99	0.45527	1.219000	0.32083	8.223000	0.76828	0.676000	0.76740	0.873000	0.30851	1.000000	0.68203	0.997000	0.79791	0.0951:0.0:0.7153:0.1896	5.903	0.18221	928	0.17405	GPCR, family 2-like;GPCR, family 2-like;GPCR, family 2-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2789.43	36	chr17	9854540	.	G	A	2789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=530;ExcessHet=0;FS=3.136;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.324;SOR=0.926	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1432	9	0	1	0
chr17	10362383	10362383	G	A	exonic	MYH13	.	nonsynonymous SNV	MYH13:NM_003802:exon4:c.C325T:p.R109C	.	0	1511	10	1	0	12	0.00395517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.884	.	7.7e-05	0.00319489	0.0018	9.61e-05	0.0002	0	0	8.99e-05	0.0011	0.0125	0.0015847	245	154602	rs200117357	0.0008	0.0008	0.0004	0.0012	0.0119	0.0008	0.0007	0.0113	0.0111	0.0001	2.236e-05	0	5.038e-05	0	0.0028	6.025e-05	0.0008	0.0119	0.0005	0.0005	0.0003	0.0007	0.0129	0.0004	0.0004	0.0103	0.0094	7.221e-05	0	0	0	0	0	0	0.0001	0	0.0129	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.99998	0.54805	D	3.645	0.94141	H	-1.92	0.84773	D	-6.22	0.90450	D	0.968	0.99100	1.080	0.98874	D	0.890	0.96345	D	9	0.037470937	0.02103	T	.	.	.	0.884	0.96614	.	.	0.924345301417	0.92358	0.7772875182400795	0.77678	0.583304359763	0.54049	0.907635331154	0.97242	D	0.85379	0.96695	D	0.096669	0.63931	D	0.377113	0.91325	D	0.212363624355918	0.21076	T	0.957504	0.83996	D	0.563561	0.70706	0.5261682	0.72624	0.563561	0.70707	0.5261682	0.72625	-13.168	0.90043	D	.	.	0.923	0.85851	P	.;.;.	.;.;.	5.246658	0.88089	29.5	0.99933971851284487	0.99535	0.96308	0.68506	D	AEFGBI	0.871856	0.79345	D	0.918980047670162	0.92657	11.55165	0.717545029198054	0.83711	8.094083	0.924162656883319	0.26770	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	4.4	0.52402	6.592000	0.73979	7.391000	0.58514	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.0:0.0:1.0:0.0	17.513	0.87661	64	0.97283	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003171	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2892.43	36	chr17	10362383	.	G	A	2892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.386;DP=550;ExcessHet=0;FS=4.757;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.2;MQRankSum=-0.017;QD=13.77;ReadPosRankSum=-1.366;SOR=0.455	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr17	10395357	10395357	C	T	exonic	MYH8	.	nonsynonymous SNV	MYH8:NM_002472:exon34:c.G4738A:p.A1580T	Carney complex variant;Trismus-pseudocamptodactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	327079	Hecht_syndrome	MONDO:MONDO:0008016,MedGen:C0265226,OMIM:158300,Orphanet:3377	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.235	0.0161953350481	.	0.000199681	5.766e-05	0	8.637e-05	0	0	8.991e-05	0	0	6.47e-05	10	154602	rs181695343	7.867e-05	7.867e-05	6.262e-05	9.488e-05	0.0003	6.666e-05	6.201e-05	7.281e-05	5.824e-05	0	0.0002	7.652e-05	0.0002	0	0.0003	7.644e-05	8.279e-05	9.275e-05	0.0001	0.0001	8.996e-05	0.0001	0.0008	7.089e-05	5.746e-05	0.0005	0.0004	2.406e-05	0	0.0008	0	0.0004	0	0	2.941e-05	0	0	0.072	0.34982	T	0.209	0.26798	T	0.072	0.23997	B	0.036	0.22909	B	0.000885	0.41231	U	0.000000	0.999132	0.46149	D	2.26	0.64354	M	-1.26	0.79176	T	-2.06	0.47175	N	0.172	0.18376	-0.6016	0.64751	T	0.333	0.70035	T	10	0.14703086	0.27866	T	0.016195	0.37339	T	0.235	0.53788	.	.	0.703776758705	0.70120	0.121072828033133	0.12034	0.571743605247	0.53290	0.493223845959	0.37885	T	0.519828	0.83187	D	-0.301449	0.08523	T	-0.401488	0.33211	T	0.0581474690342337	0.06873	T	0.822818	0.48291	T	0.07645856	0.17292	0.12842607	0.30897	0.07645856	0.17291	0.12842607	0.30896	-8.142	0.62033	D	0.3687841192697082	0.46452	0.092	0.13409	B	.	.	2.920251	0.38767	20.8	0.99824338669766621	0.90677	0.91968	0.54654	D	AEFBI	0.414740	0.48388	N	-0.180944369769539	0.33929	1.930577	-0.0934997833114411	0.35658	2.065624	0.00708187691954142	0.11381	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.85	2.82	0.32061	3.181000	0.50603	1.771000	0.28634	0.599000	0.40250	0.994000	0.38300	0.925000	0.28409	0.930000	0.46718	0.142:0.7837:0.0:0.0743	9.539	0.38405	62	0.97349	Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1843.43	33	chr17	10395357	.	C	T	1843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=487;ExcessHet=0;FS=1.223;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-1.515;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,997	9	0	1	0
chr17	10725105	10725105	T	C	exonic	TMEM220	.	nonsynonymous SNV	TMEM220:NM_001330139:exon3:c.A163G:p.I55V,TMEM220:NM_001330140:exon3:c.A163G:p.I55V,TMEM220:NM_001359647:exon3:c.A163G:p.I55V,TMEM220:NM_001004313:exon4:c.A193G:p.I65V	.	429	1088	5	0	0	5	0.00229253	.	.	.	2814961	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00304710754502	0.0061	0.00299521	0.0063	0.0016	0.0017	0	0.0035	0.0088	0.0055	0.0066	0.0067334	1041	154602	rs148509041	0.0081	0.0081	0.0082	0.0079	0.0092	0.0079	0.0079	0.0090	0.0090	0.0014	0.0024	0.0095	5.038e-05	0.0037	0.0016	0.0092	0.0067	0.0065	0.0059	0.0060	0.0060	0.0059	0.0093	0.0056	0.0055	0.0087	0.0085	0.0016	0.0274	0.0045	0.0098	0	0.0038	0	0.0093	0.0043	0.0060	0.102	0.30235	T	0.504	0.44302	T	0.002	0.09854	B	0.006	0.12133	B	0.467505	0.12317	N	0.733053	1	0.08975	N	1.405	0.35469	L	.	.	.	-0.51	0.18670	N	0.053	0.09490	-0.9926	0.31933	T	0.065	0.26807	T	9	0.0056113303	0.00124	T	0.003047	0.06577	T	0.020	0.03691	.	.	0.0138822411134	0.00435	0.07847448776778224	0.07782	0.294089448096	0.31827	0.327976375818	0.14628	T	0.00707	0.06489	T	-0.561859	0.00247	T	-0.570453	0.15409	T	0.00664885842527826	0.00075	T	0.481352	0.17505	T	0.025416434	0.01478	0.041817307	0.04840	0.025416434	0.01478	0.041817307	0.04839	-3.089	0.13063	T	.	.	0.072	0.06803	B	.;.;.	.;.;.	-0.223334	0.02973	0.443	0.50560422502453783	0.04406	0.02702	0.07349	N	AEFBI	0.106735	0.21287	N	-1.11225063752568	0.06423	0.2956704	-1.19197638537451	0.06043	0.2897016	0.0348117104093105	0.14171	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.94	-5.72	0.02211	0.349000	0.19801	-1.609000	0.05069	-0.721000	0.03806	0.030000	0.20431	0.000000	0.08366	0.039000	0.14166	0.1011:0.4563:0.1829:0.2597	4.604	0.11759	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.020202	0.001359	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	1284.43	34	chr17	10725105	.	T	C	1284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.514;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.351;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	9	0	1	0
chr17	11598513	11598533	GGAGCGGGCCGCGCTCGCGGC	-	exonic	DNAH9	.	nonframeshift deletion	DNAH9:NM_001372:exon1:c.15_35del:p.R7_E13del	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	0	0	0	.	0	3.84e-05	1	26028	rs776553619	9.682e-05	8.783e-05	9.757e-05	9.603e-05	0.0007	8.215e-05	7.645e-05	0.0004	0.0003	0.0001	8.633e-05	0.0003	0.0007	0	0	8.032e-05	0.0002	0	8.072e-05	8.027e-05	3.943e-05	0.0001	0.0018	4.596e-05	3.591e-05	0.0009	0.0007	2.42e-05	0	0	0	0.0018	0	0	3.032e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1507.01	36	chr17	11598512	.	AGGAGCGGGCCGCGCTCGCGGC	A	1507.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.08;DP=392;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=0.706;SOR=0.493	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,865	8	0	1	1
chr17	11669184	11669184	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon16:c.G2852T:p.G951V	.	.	.	.	.	.	.	.	.	.	.	2126387	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0172393003449	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs540227110	2.189e-05	2.189e-05	2.314e-05	2.063e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.608e-05	1.656e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.228	0.19927	T	.	.	.	0.015	0.17086	B	0.027	0.21085	B	0.054734	0.22700	N	0.456028	0.968386	0.38656	D	2.85	0.82803	M	1.81	0.25841	T	-4.32	0.76655	D	0.45	0.49055	-1.0801	0.07330	T	0.076	0.30492	T	10	0.43321574	0.57626	T	0.017239	0.38857	T	0.166	0.42578	0.621	0.75576	0.472344434578	0.46863	0.3050621110836088	0.30419	0.117544897482	0.13241	0.282599121332	0.07857	T	0.105556	0.41613	T	-0.165828	0.25869	T	-0.412331	0.31956	T	0.786688506603241	0.45474	D	0.762524	0.38803	T	0.23088816	0.45851	0.2397623	0.49334	0.23088816	0.45851	0.2397623	0.49333	-6.59	0.50976	T	.	.	0.127	0.26947	B	.;.	.;.	2.243860	0.28652	17.87	0.95039061239198808	0.26044	0.97305	0.73917	D	AEFBI	0.710831	0.66447	D	-0.151638742359047	0.35164	2.016398	-0.0848956892061214	0.36013	2.090538	0.394184133582189	0.20073	0.487112	0.14033	0	0.573888	0.26702	0	0.232529	0.04895	2	0.564101	0.26826	0	.	.	5.6	4.63	0.57175	4.553000	0.60463	2.146000	0.30877	0.676000	0.76740	0.948000	0.32982	0.699000	0.26222	0.867000	0.41218	0.0717:0.1328:0.7955:0.0	10.645	0.44807	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1482.43	34	chr17	11669184	.	G	T	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.421;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=2.4;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1183	9	0	1	0
chr17	11797787	11797787	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon43:c.G8414A:p.R2805H	.	424	1077	20	1	0	22	0.0101103	.	.	.	1561437	not_provided|DNAH9-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	0.00564161697608	0.0044	0.000399361	0.0040	0.0003	0.0027	0	0.0015	0.0060	0.0078	0.0018	0.0037128	574	154602	rs61740362	0.0040	0.0040	0.0039	0.0040	0.0078	0.0039	0.0038	0.0060	0.0054	0.0006	0.0027	0.0217	2.52e-05	0.0018	0.0078	0.0040	0.0051	0.0019	0.0033	0.0033	0.0036	0.0030	0.0048	0.0031	0.0030	0.0044	0.0042	0.0006	0	0.0018	0.0225	0	0.0009	0.0136	0.0048	0.0071	0.0029	0.547	0.06779	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.281482	0.14937	N	0.682618	0.999956	0.19072	N	-0.29	0.03673	N	0.92	0.44461	T	-1.01	0.26639	N	0.278	0.31478	-0.9975	0.30618	T	0.023	0.09968	T	10	0.01188615	0.00258	T	0.005642	0.14591	T	0.066	0.19193	.	.	0.148003135375	0.14442	0.32810229113382516	0.32723	0.110254582644	0.12439	0.246879145503	0.03446	T	0.011606	0.10331	T	-0.623871	0.00104	T	-0.66797	0.07739	T	0.00182899396804826	0.00019	T	0.815218	0.46991	T	0.037609708	0.04853	0.03841771	0.03707	0.03420545	0.03794	0.034699112	0.02582	-4.477	0.30586	T	.	.	0.088	0.11893	B	.;.	.;.	1.973755	0.25071	16.63	0.66938020935660592	0.08206	0.60754	0.31286	D	AEFDBCI	0.225255	0.34937	N	-1.48000715148864	0.01991	0.08747396	-1.37291843448764	0.03543	0.1654875	1.99529064970227E-5	0.02871	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	5.47	-1.66	0.07824	2.369000	0.43884	-0.636000	0.08101	-1.412000	0.01132	1.000000	0.71638	0.000000	0.08366	0.831000	0.39176	0.3345:0.0:0.5519:0.1135	6.081	0.19162	815	0.41851	Dynein heavy chain, AAA module D4;Dynein heavy chain, AAA module D4	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006048	0.000000	0.008152	0.000000	0.000000	0.000000	0.009146	0.007576	0.05	464.43	34	chr17	11797787	.	G	A	464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.185;DP=347;ExcessHet=0;FS=2.235;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.01;ReadPosRankSum=1.64;SOR=1.385	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1315	9	0	1	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C,DNAH9:NM_001372:exon66:c.G12640T:p.G4214C	.	419	1079	23	1	0	25	0.0114521	.	.	.	1587214	Ciliary_dyskinesia,_primary,_40|DNAH9-related_disorder|not_provided	MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1224.43	40	chr17	11937502	.	G	T	1224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.234;DP=470;ExcessHet=0;FS=3.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=0.189;SOR=0.401	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	9	0	1	0
chr17	13017913	13017913	G	A	exonic	ELAC2	.	nonsynonymous SNV	ELAC2:NM_001165962:exon1:c.C35T:p.A12V,ELAC2:NM_018127:exon1:c.C35T:p.A12V,ELAC2:NM_173717:exon1:c.C35T:p.A12V	Combined oxidative phosphorylation deficiency 17, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1385727	Combined_oxidative_phosphorylation_defect_type_17	MONDO:MONDO:0014190,MedGen:C3809526,OMIM:615440,Orphanet:369913	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.138453841427	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs111252262	1.945e-05	2.121e-05	2.133e-05	1.752e-05	0.0002	1.332e-05	1.142e-05	6.24e-05	4.051e-05	0.0002	0	0	0	0	0	1.761e-05	5.194e-05	0	2.627e-05	2.626e-05	5.137e-05	0	4.409e-05	8.14e-06	5.14e-06	1.17e-05	6.25e-06	2.411e-05	0	0	0	0	0	0	4.409e-05	0	0	0.019	0.50132	D	0.234	0.47828	T	0.682	0.44504	P	0.205	0.43610	B	0.017554	0.27695	N	0.371554	1	0.08975	N	1.7	0.43825	L	-0.13	0.65378	T	-0.28	0.11547	N	0.288	0.39356	-0.8544	0.51662	T	0.194	0.54696	T	10	0.17325842	0.32144	T	0.138454	0.82094	D	0.119	0.33137	0.246	0.18139	0.764632480499	0.76248	0.45206996963459356	0.45124	0.207775918968	0.23247	0.724977612495	0.70774	T	0.01293	0.11273	T	-0.0458153	0.45080	T	-0.303587	0.44343	T	0.137935741477062	0.16095	T	0.872813	0.58002	D	0.063081905	0.13243	0.096784614	0.23011	0.063081905	0.13243	0.096784614	0.23010	-4.312	0.29517	T	.	.	0.186	0.41678	B	.;.;.;.	.;.;.;.	1.921212	0.24402	16.38	0.99638803358881955	0.76510	0.14908	0.18647	N	AEFGBHCIJ	0.096126	0.19410	N	-0.378934895786261	0.26221	1.429394	-0.458610731671632	0.23304	1.270202	0.999999999999818	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.88	2.69	0.30923	1.021000	0.29642	4.865000	0.45508	0.676000	0.76740	0.021000	0.19753	1.000000	0.68203	0.018000	0.11154	0.0:0.3218:0.6782:0.0	12.942	0.57745	969	0.06854	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001601	0.000000	0.004310	0.000000	0.000000	0.000000	0.000000	0.004000	0.05	700.43	41	chr17	13017913	.	G	A	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.619;DP=349;ExcessHet=0;FS=2.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.053;SOR=0.448	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr17	14069646	14069646	C	T	exonic	COX10	.	nonsynonymous SNV	COX10:NM_001303:exon1:c.C41T:p.T14I	Leigh syndrome due to mitochondrial COX4 deficiency, Autosomal recessive, Mitochondrial;Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	1	1517	4	0	0	4	0.00131666	0.6031	0.574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0107264595998	.	0.000199681	2.524e-05	0	8.792e-05	0	0	1.53e-05	0	6.136e-05	2.59e-05	4	154602	rs576862251	1.026e-05	1.026e-05	8.168e-06	1.238e-05	0.0005	6.16e-06	4.89e-06	0.0001	7.541e-05	0	2.236e-05	0	0	0	0.0005	5.396e-06	6.623e-05	1.16e-05	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0002	5.24e-06	2.45e-06	2.257e-05	9.06e-06	0	0	0.0001	0	0.0002	0	0	0	0	0	0.04	0.42199	D	0.217	0.26145	T	0.003	0.11197	B	0.003	0.08700	B	0.187499	0.16936	N	0.617866	1	0.81001	D	1.7	0.43825	L	1.11	0.38883	T	-0.65	0.18877	N	0.456	0.51405	-0.9933	0.31749	T	0.101	0.37518	T	10	0.13806897	0.26260	T	0.010726	0.27599	T	0.136	0.36778	0.396	0.42262	0.471127988307	0.46741	0.24658202236068966	0.24572	0.271397861311	0.29662	0.524778306484	0.42300	T	0.309629	0.68164	T	-0.216784	0.18435	T	-0.373325	0.36501	T	0.529577195644379	0.33719	D	0.721828	0.33531	T	0.11836129	0.27888	0.23438649	0.48654	0.11836129	0.27888	0.23438649	0.48653	-4.239	0.27313	T	.	.	0.359	0.57167	A	.;.	.;.	4.976475	0.82395	27.8	0.88952674449121938	0.18389	0.49752	0.28505	N	AEFDGBHCI	0.412554	0.48258	N	-0.408937708228879	0.25155	1.363454	-0.328530380839874	0.27181	1.506485	0.99999999998887	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.32	3.34	0.37357	3.533000	0.53317	7.229000	0.57868	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.454000	0.27984	0.0:0.8272:0.1727:0.0	12.2	0.53629	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	754.14	56	chr17	14069646	.	C	T	754.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.42;DP=389;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=0.364;SOR=0.704	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1073	8	0	2	0
chr17	16217348	16217348	G	A	exonic	PIGL	.	nonsynonymous SNV	PIGL:NM_004278:exon1:c.G122A:p.S41N	CHIME syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0227031417889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.32929	T	0.317	0.32144	T	0.828	0.46021	P	0.374	0.43683	B	0.010675	0.29831	N	0.431452	0.72825	0.33690	D	1.79	0.46772	L	-1.07	0.76948	T	-1.0	0.26422	N	0.18	0.25377	-0.3616	0.73216	T	0.328	0.69631	T	10	0.18763912	0.34282	T	0.022703	0.45612	T	0.177	0.44549	0.403	0.43408	0.863795767011	0.86247	0.40188283917858203	0.40104	0.108664449651	0.12253	0.412895262241	0.26858	T	0.014814	0.13743	T	-0.119462	0.33213	T	-0.409376	0.32298	T	0.627610743045807	0.37519	D	0.743726	0.37153	T	0.15069215	0.34294	0.21307424	0.45804	0.15069215	0.34293	0.21307424	0.45803	-6.131	0.47363	T	0.2293030515126621	0.31018	0.136	0.40506	B	.;.;.;.	.;.;.;.	1.830964	0.23262	15.95	0.67813943936330556	0.08468	0.05563	0.11461	N	AEFDGBHCI	0.115576	0.22718	N	-0.214580190972035	0.32535	1.835884	-0.261398501723842	0.29381	1.645636	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.49	4.52	0.54797	1.760000	0.38059	3.373000	0.37946	0.676000	0.76740	0.024000	0.20007	1.000000	0.68203	0.309000	0.24713	0.0:0.1698:0.8302:0.0	12.356	0.54501	573	0.70213	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2431.43	35	chr17	16217348	.	G	A	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.095;DP=486;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=2.08;SOR=0.638	GT:AD:DP:GQ:PL	0/1:71,95:166:99:2443,0,1869	9	0	1	0
chr17	16624270	16624270	C	G	exonic	ZNF624	.	nonsynonymous SNV	ZNF624:NM_020787:exon6:c.G616C:p.E206Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00126279118334	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs775897578	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.06585	T	0.584	0.08390	T	0.072	0.23997	B	0.018	0.18489	B	.	.	.	.	0.999999	0.08975	N	0.245	0.09735	N	3.49	0.05071	T	-0.13	0.08971	N	0.116	0.10483	-0.9595	0.39274	T	0.008	0.02679	T	9	0.048728436	0.04363	T	0.001263	0.01708	T	0.047	0.12962	0.219	0.14078	0.415820034956	0.41198	0.13755548935054232	0.13679	0.446346046665	0.44510	0.21057009697	0.00836	T	0.007439	0.06846	T	-0.460344	0.00978	T	-0.729901	0.04332	T	0.0400247711586557	0.03695	T	0.0382962	0.00264	T	0.09912036	0.23387	0.08195308	0.18665	0.09912036	0.23387	0.08195308	0.18664	-0.988	0.00986	T	.	.	0.078	0.07036	B	.	.	1.129643	0.15161	11.64	0.10670653054778234	0.00141	0.00714	0.03017	N	AEFBCI	0.075792	0.15230	N	-0.987435514426961	0.08871	0.4176391	-0.928557415134987	0.11422	0.5817825	0.00824769751160594	0.11639	0.562547	0.31514	0	0.546412	0.12157	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	2.85	2.85	0.32333	0.203000	0.17113	-0.170000	0.11235	0.586000	0.30580	0.000000	0.06391	0.000000	0.08366	0.504000	0.29107	0.0:1.0:0.0:0.0	11.906	0.51997	884	0.28482	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1505.43	33	chr17	16624270	.	C	G	1505.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.148;DP=413;ExcessHet=0;FS=3.591;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-1.239;SOR=0.915	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,923	9	0	1	0
chr17	16727660	16727660	T	A	exonic	CCDC144A	.	nonsynonymous SNV	CCDC144A:NM_001382000:exon9:c.T2025A:p.N675K,CCDC144A:NM_014695:exon9:c.T2025A:p.N675K	.	.	.	.	.	.	.	.	.	.	.	3302976	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.006	0.00146830154849	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs762948246	6.457e-06	6.166e-06	7.155e-06	5.754e-06	0.0003	3.04e-06	2.2e-06	2.04e-06	1.34e-06	0	0	0	0	0	0.0003	5.663e-06	3.466e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	.	.	.	2.39	0.15724	T	2.55	0.00222	N	0.114	0.13626	-0.9523	0.40573	T	0.012	0.04653	T	8	0.033891052	0.01578	T	0.001468	0.02241	T	0.006	0.00375	0.326	0.30873	0.0138822411134	0.00435	0.010282390760649423	0.00989	.	.	0.74387460947	0.73542	T	0.001123	0.00635	T	-0.398144	0.02381	T	-0.809683	0.01672	T	0.0557897101063128	0.06489	T	0.0322968	0.00278	T	0.027251089	0.01890	0.042220026	0.04980	0.027251089	0.01890	0.042220026	0.04979	1.673	0.00070	T	.	.	0.177	0.38640	B	.;.;.	.;.;.	-0.506886	0.01845	0.148	0.13544600045209676	0.00270	0.00638	0.02794	N	AEFI	0.026523	0.02006	N	-1.61445979069732	0.01194	0.05190342	-1.65304280462181	0.01360	0.06142503	5.22740426462124E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.08	-3.36	0.04606	-0.084000	0.11233	-1.313000	0.05742	-2.843000	0.00175	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5652:0.0:0.2319:0.2028	3.443	0.07041	895	0.25842	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	535.43	38	chr17	16727660	.	T	A	535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=333;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.19;MQRankSum=-1.414;QD=11.9;ReadPosRankSum=0.08;SOR=0.686	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,770	9	0	1	0
chr17	16940392	16940394	TCT	-	exonic	TNFRSF13B	.	nonframeshift deletion	TNFRSF13B:NM_012452:exon4:c.563_565del:p.K188del	Immunodeficiency, common variable, 2, Autosomal recessive, Autosomal dominant;Immunoglobulin A deficiency 2	1	1520	1	0	0	1	0.000328839	.	.	.	530603	TNFRSF13B-related_disorder|Immunodeficiency,_common_variable,_2	.|MONDO:MONDO:0009413,MedGen:C3150354,OMIM:240500,Orphanet:1572	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0020	0	0	0.0001	0	4.51e-05	0	0.0145	0.0006916	18	26028	rs376630110	0.0008	0.0008	0.0005	0.0012	0.0132	0.0008	0.0008	0.0126	0.0123	0	2.236e-05	0	2.519e-05	0	0.0033	4.496e-06	0.0009	0.0132	0.0006	0.0006	0.0003	0.0009	0.0176	0.0005	0.0004	0.0146	0.0135	2.405e-05	0	0	0	0	0	0	0	0.0014	0.0176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002014	0.000000	0.000000	0.005882	0.000000	0.000000	0.000000	0.000000	0.05	978.39	33	chr17	16940391	.	CTCT	C	978.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.267;DP=367;ExcessHet=0;FS=3.855;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.46;ReadPosRankSum=-0.481;SOR=1.182	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr17	17147359	17147359	G	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon11:c.G1601A:p.R534K,MPRIP:NM_015134:exon11:c.G1247A:p.R416K,MPRIP:NM_201274:exon11:c.G1247A:p.R416K	.	431	1074	17	0	0	17	0.00785219	.	.	.	2716962	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.384	0.0224399987283	0.0003	0.000199681	0.0007	9.614e-05	0.0007	0	0	0.0006	0	0.0023	0.000608	94	154602	rs200990767	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0018	0.0018	0.0001	0.0009	0.0008	0	0	0.0028	0.0004	0.0008	0.0021	0.0005	0.0005	0.0004	0.0005	0.0027	0.0004	0.0003	0.0016	0.0013	2.405e-05	0	0.0007	0.0006	0	0	0	0.0006	0	0.0027	0.341	0.12673	T	0.709	0.13993	T	0.939	0.52645	P	0.842	0.60272	P	.	.	.	.	0.999307	0.46608	D	0.89	0.21648	L	-0.92	0.75108	T	-0.28	0.11547	N	0.441	0.48596	-0.5816	0.65554	T	0.328	0.69631	T	9	0.037644327	0.02132	T	0.02244	0.45329	T	0.384	0.70112	.	.	0.890180543243	0.88909	0.8531674880308365	0.85278	0.631570097891	0.57109	.	.	.	0.250749	0.62089	T	-0.164656	0.26045	T	-0.0151516	0.69348	D	0.0525764673948288	0.05946	T	0.885811	0.61165	D	0.23923945	0.46812	0.2482315	0.50369	0.23923945	0.46811	0.2482315	0.50368	-9.435	0.70454	D	.	.	0.246	0.50527	B	.;.;.	.;.;.	3.637068	0.51552	23.1	0.99509447787367855	0.68558	0.96582	0.69863	D	AEFGBCI	0.919119	0.88917	D	0.306371879108372	0.56475	3.812243	0.444331196750598	0.64353	4.688597	0.999999999808468	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.685742	0.62368	0	0.635551	0.53088	0	.	.	5.4	5.4	0.77957	6.710000	0.74492	11.917000	0.99728	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.542	0.95269	544	0.72685	.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|Myosin phosphatase-RhoA interacting protein, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.003788	0.05	684.43	40	chr17	17147359	.	G	A	684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.928;DP=434;ExcessHet=0;FS=1.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=1.43;SOR=0.777	GT:AD:DP:GQ:PL	0/1:49,35:84:99:696,0,1142	9	0	1	0
chr17	17158688	17158688	C	T	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon14:c.C2086T:p.P696S,MPRIP:NM_015134:exon14:c.C1732T:p.P578S,MPRIP:NM_201274:exon14:c.C1732T:p.P578S	.	415	1093	13	1	0	15	0.00681508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00445387363551	0.0013	0.000399361	0.0024	0.0006	0.0069	0	0.0002	0.0022	0.0014	0.0026	0.0018823	291	154602	rs190974068	0.0021	0.0021	0.0021	0.0022	0.0036	0.0021	0.0020	0.0030	0.0028	0.0003	0.0034	0.0062	0	0.0001	0.0036	0.0021	0.0022	0.0027	0.0015	0.0015	0.0016	0.0013	0.0033	0.0013	0.0013	0.0021	0.0018	0.0002	0	0.0018	0.0029	0	0.0007	0.0068	0.0022	0.0009	0.0033	0.239	0.19225	T	0.25	0.23707	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.525	0.38595	L	2.25	0.23082	T	-1.2	0.30555	N	0.124	0.16308	-0.9874	0.33249	T	0.041	0.17742	T	9	0.004526466	0.00093	T	0.004454	0.10906	T	0.022	0.04323	.	.	0.19168177325	0.18762	0.35815722957413376	0.35729	0.338675759469	0.35831	.	.	.	0.099242	0.40386	T	-0.560325	0.00253	T	-0.581948	0.14371	T	0.00147646790179908	0.00015	T	0.759324	0.38363	T	0.018688433	0.00391	0.034167647	0.02437	0.018688433	0.00391	0.034167647	0.02437	-5.259	0.39536	T	.	.	0.080	0.12418	B	.;.;.	.;.;.	0.145493	0.05387	1.865	0.4975830727751433	0.04265	0.09112	0.14933	N	AEFDGBI	0.077390	0.15592	N	-0.938851674393687	0.09945	0.4729422	-0.938025306055159	0.11202	0.5692244	0.706675899274028	0.22768	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	0.739	0.17473	-0.437000	0.06984	0.037000	0.13814	-0.223000	0.07921	0.000000	0.06391	0.017000	0.20586	0.010000	0.09038	0.0:0.5417:0.1339:0.3244	5.849	0.17932	547	0.72440	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004061	0.005051	0.001362	0.002941	0.000000	0.000000	0.006289	0.007692	0.05	1056.43	38	chr17	17158688	.	C	T	1056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.17;DP=424;ExcessHet=0;FS=10.495;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.55;MQRankSum=0.262;QD=11.12;ReadPosRankSum=0.651;SOR=1.692	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr17	17224005	17224005	G	A	exonic	FLCN	.	nonsynonymous SNV	FLCN:NM_144606:exon6:c.C535T:p.R179W,FLCN:NM_144997:exon6:c.C535T:p.R179W,FLCN:NM_001353230:exon7:c.C535T:p.R179W,FLCN:NM_001353231:exon7:c.C535T:p.R179W,FLCN:NM_001353229:exon8:c.C589T:p.R197W	Birt-Hogg-Dube syndrome, Autosomal dominant;Colorectal cancer, somatic;Pneumothorax, primary spontaneous, Autosomal dominant;Renal carcinoma, chromophobe, somatic	.	.	.	.	.	.	.	.	.	YES	402038	not_provided|not_specified|Birt-Hogg-Dube_syndrome|Hereditary_cancer-predisposing_syndrome|17p11.2_microduplication_syndrome|Birt-Hogg-Dube_syndrome_1|Familial_spontaneous_pneumothorax|Nonpapillary_renal_cell_carcinoma|Colorectal_cancer	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800444,MedGen:C0346010,OMIM:PS135150,Orphanet:122|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|Gene:100038247,MONDO:MONDO:0012574,MedGen:C2931246,OMIM:610883,Orphanet:1713|MONDO:MONDO:0800445,MedGen:CN375946,OMIM:135150,Orphanet:122|MONDO:MONDO:0008259,MedGen:C1868193,OMIM:173600,Orphanet:2903|MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.659	0.327396208473	.	.	5.838e-05	0	0	0	0	7.606e-05	0.0022	0	4.53e-05	7	154602	rs774358971	4.79e-05	4.788e-05	4.63e-05	4.952e-05	6.708e-05	3.861e-05	3.541e-05	4.265e-05	3.837e-05	0	6.708e-05	0	2.519e-05	0	0	5.396e-05	8.279e-05	1.159e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.544e-05	2.18e-06	8.2e-07	.	.	0	0	6.544e-05	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.991	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.095	0.58118	M	-2.48	0.89071	D	-4.96	0.83763	D	0.875	0.87590	0.628	0.92271	D	0.774	0.92325	D	10	0.7854332	0.78206	D	0.327396	0.91652	D	0.659	0.87234	0.437	0.48993	0.865525898778	0.86422	0.8514265538539851	0.85104	1.18360250493	0.80079	0.842413127422	0.88463	D	0.959602	0.99471	D	0.285528	0.81784	D	0.364048	0.90855	D	0.597898483276367	0.36317	D	0.920908	0.74555	D	0.89133996	0.90623	0.886935	0.94050	0.89133996	0.90624	0.886935	0.94050	-11.251	0.81017	D	0.6621336169171075	0.73578	0.972	0.91928	P	.;.;.	.;.;.	5.472705	0.91291	32	0.99928195512372375	0.99222	0.95373	0.64467	D	AEFGBI	0.736665	0.68210	D	0.731994064448193	0.81729	7.591051	0.732963977188795	0.84882	8.417202	0.100755776078523	0.16361	0.744818	0.98587	0	0.697927	0.68747	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	5.74	5.74	0.90070	4.184000	0.58121	7.522000	0.59778	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8503:0.1497	14.148	0.64899	794	0.45591	Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain;Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain;Folliculin, N-terminal|Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1011.43	34	chr17	17224005	.	G	A	1011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=423;ExcessHet=0;FS=3.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=1.57;SOR=0.389	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1122	9	0	1	0
chr17	17254870	17254870	C	T	exonic	COPS3	.	nonsynonymous SNV	COPS3:NM_001316358:exon7:c.G697A:p.V233I,COPS3:NM_001316355:exon8:c.G838A:p.V280I,COPS3:NM_001316356:exon8:c.G811A:p.V271I,COPS3:NM_001316357:exon8:c.G697A:p.V233I,COPS3:NM_001199125:exon9:c.G952A:p.V318I,COPS3:NM_001316354:exon9:c.G622A:p.V208I,COPS3:NM_003653:exon9:c.G1012A:p.V338I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.010611406545	.	.	8.321e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs750494846	3.479e-06	6.86e-06	2.774e-06	4.189e-06	3.045e-05	1.02e-06	7.4e-07	7.3e-07	2e-07	3.045e-05	0	0	0	0	0	2.75e-06	0	1.168e-05	6.682e-06	6.616e-06	0	1.373e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	1.0	0.00964	T	1.0	0.02934	T	0.555	0.38231	P	0.104	0.31021	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0	0.06538	N	0.99	0.41750	T	0.14	0.05405	N	0.658	0.66787	-1.0413	0.16921	T	0.043	0.18493	T	10	0.39259228	0.54999	T	0.010611	0.27345	T	0.226	0.52472	0.55	0.66576	0.388112687808	0.38423	0.36550856581754376	0.36464	0.517838923468	0.49650	0.827673077583	0.86207	D	0.103037	0.41132	T	-0.0933101	0.37530	T	-0.356324	0.38478	T	0.300139910140579	0.25010	T	0.849815	0.68393	T	0.12425656	0.29159	0.100020215	0.23900	0.12425656	0.29159	0.100020215	0.23900	-4.8	0.36093	T	.	.	0.136	0.37083	B	.;.;.	.;.;.	2.962806	0.39466	21.0	0.31215139023262028	0.01747	0.98215	0.80611	D	AEFBI	0.841784	0.75895	D	-0.0469438736707475	0.39739	2.348371	0.137398497855517	0.46477	2.893138	0.999999691738794	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	7.489000	0.80266	7.620000	0.62269	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	17.730	0.88283	830	0.39242	.;Proteasome component (PCI) domain|Proteasome component (PCI) domain|Proteasome component (PCI) domain;Proteasome component (PCI) domain|Proteasome component (PCI) domain|Proteasome component (PCI) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	985.14	37	chr17	17254870	.	C	T	985.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.748;DP=422;ExcessHet=0.2348;FS=2.587;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.793;SOR=0.455	GT:AD:DP:GQ:PL	0/1:26,20:46:99:419,0,659	8	0	2	0
chr17	17793784	17793786	AGC	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	32	478	558	335	119	1347	0.562271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	60701.0	192	chr17	17793784	.	AGC	*	60701.0	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.166;DP=2418;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.8;ReadPosRankSum=0.982;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:228:99:.:.:9449,9452,9459:.	9	0	1	0
chr17	17793787	17793788	AG	0	exonic	RAI1	.	.	.	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	57180.2	192	chr17	17793787	.	AG	*	57180.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.842;DP=2453;ExcessHet=2.8389;FS=0.594;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.04;ReadPosRankSum=1.25;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:1,0:188:99:.:.:9329,8821,8844:.	9	0	1	0
chr17	18140565	18140565	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon19:c.C5260T:p.R1754C	Deafness, autosomal recessive 3, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1433225	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.446	0.0954489642906	0.0002	.	3.352e-05	0.0001	0	0	0	3.046e-05	0	6.058e-05	3.23e-05	5	154602	rs371135457	3.148e-05	3.215e-05	2.86e-05	3.439e-05	0.0002	2.413e-05	2.158e-05	0.0002	0.0001	2.987e-05	0	0	0	0	0	2.068e-05	3.312e-05	0.0002	2.627e-05	2.626e-05	2.568e-05	2.689e-05	0.0002	8.14e-06	5.14e-06	8e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.469e-05	0	0.0002	0.001	0.78490	D	0.0	0.92824	D	0.803	0.45133	P	0.23	0.38212	B	.	.	.	.	0.999248	0.46434	D	3.12	0.87914	M	-2.35	0.88066	D	-4.25	0.76094	D	0.346	0.48227	0.110	0.84363	D	0.532	0.82665	D	9	0.487034	0.60769	T	0.095449	0.76430	D	0.446	0.74797	.	.	0.823332747453	0.82166	0.358675075554092	0.35781	.	.	0.630518615246	0.57219	T	0.081703	0.91553	T	-0.154679	0.27581	T	-0.185662	0.55995	T	0.75092226266861	0.43336	D	0.868713	0.57175	D	0.30851963	0.53658	0.400397	0.64577	0.30851963	0.53658	0.400397	0.64577	-11.962	0.84666	D	0.1709646140896716	0.21525	0.101	0.17657	B	.;.;.	.;.;.	5.566197	0.92182	32	0.99722520542912485	0.82125	0.71226	0.34922	D	AEFBCI	0.355744	0.44736	N	0.222504678808314	0.52292	3.404202	0.246340193289653	0.52442	3.418949	0.631339430139158	0.21971	0.525926	0.21836	0	0.547309	0.14657	0	0.547309	0.15389	0	0.584449	0.35598	0	.	.	4.0	2.91	0.32903	2.679000	0.46575	4.724000	0.44520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.446:0.554:0.0:0.0	9.453	0.37901	207	0.91931	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XV myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2425.43	34	chr17	18140565	.	C	T	2425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.125;DP=492;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.25;ReadPosRankSum=0.054;SOR=0.787	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr17	18148547	18148547	C	T	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon31:c.C6743T:p.A2248V	Deafness, autosomal recessive 3, Autosomal recessive	0	1495	25	2	0	29	0.00960583	.	.	.	54920	Autosomal_recessive_nonsyndromic_hearing_loss_3|not_specified|not_provided	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.661	.	0.0003	0.00439297	0.0093	0.0005	0.0023	0	0	0.0016	0.0104	0.0216	0.0017982	278	154602	rs199831544	0.0014	0.0014	0.0008	0.0020	0.0182	0.0013	0.0013	0.0174	0.0171	6.324e-05	5.569e-05	0.0073	0	0	0.0028	0.0002	0.0018	0.0182	0.0008	0.0008	0.0006	0.0010	0.0145	0.0007	0.0006	0.0118	0.0108	9.627e-05	0	0.0005	0.0066	0	0	0	0.0002	0.0009	0.0145	0.043	0.41364	D	0.002	0.79402	D	0.91	0.50240	P	0.335	0.42239	B	.	.	.	.	0.999897	0.50595	D	3.17	0.88688	M	-2.51	0.89293	D	-3.82	0.71997	D	0.377	0.58883	0.520	0.90822	D	0.670	0.88546	D	9	0.0093669295	0.00212	T	.	.	.	0.661	0.87332	.	.	0.779154654256	0.77711	0.7726035762880744	0.77210	.	.	0.560795664787	0.47380	T	0.128323	0.88232	T	-0.208815	0.19545	T	-0.0577883	0.66487	T	0.0954846278579105	0.11853	T	0.884712	0.60854	D	0.38575172	0.59729	0.37404418	0.62579	0.36982277	0.58572	0.40623018	0.65002	-9.642	0.71740	D	0.6357685959209678	0.70577	0.352	0.56696	A	.;.;.	.;.;.	4.075321	0.60581	24.2	0.99693189963661699	0.80112	0.92504	0.55867	D	AEFBI	0.381485	0.46373	N	0.403898352134571	0.61637	4.367414	0.395471302872952	0.61285	4.326514	0.996981160912718	0.35173	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.3	4.3	0.50540	4.537000	0.60354	7.595000	0.61372	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.520	0.84159	190	0.92594	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001618	0.000000	0.000000	0.000000	0.000000	0.009615	0.000000	0.004032	0.1	1425.14	34	chr17	18148547	.	C	T	1425.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.266;DP=423;ExcessHet=0.2348;FS=2.071;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.383;SOR=0.541	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	8	0	2	0
chr17	18151186	18151186	C	G	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon38:c.C7550G:p.T2517S	Deafness, autosomal recessive 3, Autosomal recessive	0	1516	5	1	0	7	0.00230339	.	.	YES	327589	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.167	0.0308351643437	.	.	0.0002	0	0.0004	0	0	0.0002	0.0011	0.0001	0.0001423	22	154602	rs201119351	8.962e-05	8.961e-05	7.079e-05	0.0001	0.0014	7.689e-05	7.233e-05	0.0007	0.0005	0	0.0002	0	0	1.875e-05	0.0014	8.094e-05	0.0001	0.0002	6.565e-05	6.561e-05	5.14e-05	8.055e-05	8.821e-05	3.514e-05	2.614e-05	3.762e-05	2.575e-05	0	0	6.534e-05	0.0003	0	0	0.0034	8.821e-05	0.0005	0	0.157	0.23997	T	0.357	0.17115	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-2.21	0.86963	D	0.11	0.05706	N	0.218	0.63713	-0.6137	0.64250	T	0.442	0.77946	T	9	0.0777283	0.12304	T	0.030835	0.53060	D	0.167	0.42761	0.221	0.14371	0.497806138765	0.49414	0.18547005484424645	0.18465	.	.	0.408337593079	0.26227	T	0.005361	0.34354	T	-0.400259	0.02306	T	-0.515162	0.20785	T	0.0148943243974514	0.00316	T	0.412459	0.10726	T	0.03560985	0.04224	0.06663308	0.13677	0.039686833	0.05527	0.07126536	0.15241	-3.577	0.17525	T	0.0859103657150143	0.04893	0.078	0.06710	B	.;.;.	.;.;.	0.681597	0.10498	7.215	0.33459445142478739	0.01994	0.03064	0.07970	N	AEFBI	0.062184	0.11938	N	-0.979644302608828	0.09039	0.4261702	-0.950467441163496	0.10912	0.5526794	0.563669977306606	0.21434	0.533608	0.22052	0	0.547309	0.14657	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.25	3.1	0.34780	0.811000	0.26855	2.267000	0.31803	-0.273000	0.06669	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	0.0:0.5645:0.4355:0.0	13.931	0.63501	179	0.93046	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1668.43	34	chr17	18151186	.	C	G	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=472;ExcessHet=0;FS=0.607;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.21;SOR=0.789	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr17	18242594	18242594	G	A	exonic	LLGL1	.	nonsynonymous SNV	LLGL1:NM_004140:exon21:c.G3082A:p.D1028N	.	390	1128	4	0	0	4	0.00176991	.	.	.	3287538	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.226	0.0343609555984	.	.	2.729e-05	0	0.0002	0	0	1.646e-05	0	0	1.94e-05	3	154602	rs764049583	3.147e-05	3.147e-05	3.267e-05	3.026e-05	0.0009	2.413e-05	2.158e-05	0.0003	0.0002	5.974e-05	0.0001	0	0	0	0.0009	2.518e-05	8.281e-05	1.16e-05	3.282e-05	3.28e-05	3.854e-05	2.685e-05	6.534e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	6.534e-05	0	0	0	0.0034	4.411e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	0.995	0.67487	D	0.82	0.59072	P	0.000002	0.62929	D	0.066431	1	0.81001	D	2.11	0.58565	M	3.26	0.06681	T	-2.89	0.60665	D	0.366	0.40765	-1.1993	0.00155	T	0.041	0.17700	T	10	0.27469936	0.45024	T	0.034361	0.55621	D	0.226	0.52472	0.284	0.24121	0.592316647194	0.58908	0.3661103324815214	0.36525	0.885781201236	0.69985	0.550657510757	0.45950	T	0.64463	0.89143	D	-0.322414	0.06702	T	-0.50393	0.21940	T	0.58687299489975	0.35883	D	.	.	.	0.40951842	0.61386	0.37619174	0.62746	0.40951842	0.61386	0.37619174	0.62746	-5.24	0.39346	T	.	.	0.152	0.33573	B	.;.	.;.	4.623213	0.73436	26.0	0.99923633030779258	0.98917	0.98257	0.80997	D	AEFDGBHCI	0.921610	0.89536	D	0.714007510165627	0.80550	7.319182	0.768729432622489	0.87549	9.260458	0.999999999999846	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	8.749000	0.91303	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0:0.0:1.0:0.0	19.137	0.93416	183	0.92871	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1374.43	44	chr17	18242594	.	G	A	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=456;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.488;SOR=0.828	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,108,1620	9	0	1	0
chr17	18264577	18264577	C	T	exonic	MIEF2	.	nonsynonymous SNV	MIEF2:NM_139162:exon4:c.C1178T:p.T393M,MIEF2:NM_148886:exon4:c.C1211T:p.T404M	.	.	.	.	.	.	.	.	.	.	.	3285663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.0111345603975	.	.	8.435e-06	0	0	0	0	1.541e-05	0	0	6.5e-06	1	154602	rs771744645	3.908e-05	3.967e-05	3.684e-05	4.134e-05	4.586e-05	3.054e-05	2.789e-05	3.545e-05	3.204e-05	2.987e-05	0	0	0	0	0	4.586e-05	3.313e-05	3.478e-05	3.288e-05	3.284e-05	3.855e-05	2.693e-05	0.0002	1.262e-05	7.98e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.95	0.53885	P	0.541	0.48869	P	0.105453	0.19658	N	0.593433	0.861036	0.81001	D	1.795	0.47270	L	3.03	0.08898	T	-2.59	0.55821	D	0.169	0.17966	-1.0606	0.11607	T	0.032	0.13592	T	10	0.25658974	0.43064	T	0.011135	0.28436	T	0.080	0.23350	.	.	0.373897652646	0.36997	0.14236539495478323	0.14159	0.886506435719	0.70018	0.427184402943	0.28824	T	0.139149	0.47303	T	-0.32333	0.06629	T	-0.533089	0.18978	T	0.809962153434753	0.47045	D	.	.	.	0.26746935	0.49818	0.29627717	0.55659	0.26746935	0.49818	0.29627717	0.55658	-6.386	0.49798	T	.	.	0.104	0.18746	B	.;.	.;.	2.692213	0.35142	19.82	0.99768815657061927	0.85750	0.92686	0.56299	D	AEFBCI	0.373703	0.45887	N	0.081145674574034	0.45585	2.81248	0.0349527252740804	0.41350	2.483	0.999999244402166	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.45	4.46	0.53567	3.979000	0.56596	2.246000	0.31650	-0.223000	0.07921	0.969000	0.34210	0.979000	0.30280	0.006000	0.07323	0.0:0.865:0.135:0.0	16.000	0.80085	258	0.89879	Mab-21 domain|Mab-21 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1698.43	36	chr17	18264577	.	C	T	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.396;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.276;SOR=0.649	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr17	18316681	18316681	T	G	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.T892G:p.C298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00482516856736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.07093	T	0.65	0.06738	T	0.02	0.18235	B	0.016	0.17743	B	0.043271	0.23756	N	0.481200	0.994054	0.23596	N	1.61	0.41143	L	2.0	0.21473	T	-0.82	0.22508	N	0.119	0.10911	-1.0216	0.23195	T	0.031	0.13286	T	10	0.043017	0.03107	T	0.004825	0.12066	T	0.019	0.03383	0.316	0.29258	0.0482279557977	0.04254	0.2665931807544946	0.26572	0.0570742409901	0.06311	0.259175240993	0.04793	T	0.016709	0.13762	T	-0.199982	0.20807	T	-0.525037	0.19785	T	0.0520194694399834	0.05851	T	.	.	.	0.08759261	0.20404	0.053089827	0.08876	0.08759261	0.20404	0.053089827	0.08875	-1.854	0.02675	T	.	.	0.062	0.01271	B	.	.	1.195114	0.15865	12.16	0.87624160465875567	0.17362	0.42761	0.26949	N	AEFDBCI	0.211117	0.33693	N	-0.623896325856242	0.18228	0.9446827	-0.548051494119534	0.20858	1.125684	0.999529448511217	0.40175	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.73	0.393	0.15517	0.115000	0.15373	1.847000	0.29229	0.665000	0.62972	0.001000	0.13787	0.987000	0.30940	0.995000	0.73285	0.1952:0.4833:0.0:0.3215	4.060	0.09312	503	0.75780	Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1138.43	88	chr17	18316681	.	T	G	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=842;ExcessHet=0;FS=1.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=-0.538;SOR=0.759	GT:AD:DP:GQ:PL	0/0:85,0:85:99:0,120,1800	9	0	1	0
chr17	18317705	18317705	C	A	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon1:c.C1916A:p.S639Y	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00572909620491	.	0.000399361	0.0002	0	0	0	0	0	0	0.0015	0.0002005	31	154602	rs570927170	7.114e-05	7.114e-05	4.764e-05	9.488e-05	0.0011	5.98e-05	5.588e-05	0.0010	0.0009	0	0	0	0	0	0	1.799e-06	6.623e-05	0.0011	2.626e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.052	0.39097	T	1.0	0.01155	T	0.148	0.27908	B	0.115	0.31843	B	0.152893	0.17909	N	0.485196	0.999945	0.19238	N	1.67	0.42885	L	0.81	0.48460	T	-1.54	0.37375	N	0.406	0.44666	-1.0251	0.22050	T	0.087	0.33690	T	10	0.009294093	0.00210	T	0.005729	0.14862	T	0.019	0.03383	0.16	0.06396	0.163833314356	0.15978	0.23900861441552437	0.23814	0.115538250481	0.13036	0.354856014252	0.18635	T	0.042949	0.26348	T	-0.476954	0.00771	T	-0.482516	0.24179	T	0.0507888735650122	0.05639	T	.	.	.	0.05348194	0.10128	0.09235696	0.21763	0.05348194	0.10127	0.09235696	0.21762	-5.253	0.39476	T	.	.	0.094	0.14385	B	.	.	1.326183	0.17311	13.09	0.70905897259287276	0.09450	0.57606	0.30421	D	AEFDBHCI	0.101475	0.20381	N	-0.640210869743704	0.17745	0.9157627	-0.605024570401782	0.19364	1.038568	0.999997290858603	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.52	2.32	0.27895	0.318000	0.19252	0.213000	0.15984	0.599000	0.40250	0.000000	0.06391	0.348000	0.24457	0.695000	0.33988	0.2552:0.6781:0.0:0.0667	9.548	0.38458	507	0.75469	Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3222.43	38	chr17	18317705	.	C	A	3222.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.019;DP=979;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=0.725;SOR=0.717	GT:AD:DP:GQ:PL	0/0:214,0:214:99:0,120,1800	9	0	1	0
chr17	18322669	18322669	C	A	exonic	SMCR8	.	nonsynonymous SNV	SMCR8:NM_144775:exon2:c.C2413A:p.R805S	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.357	0.0371454456579	0.0008	0.00119808	0.0014	0.0002	0.0003	0.0001	0.0003	0.0009	0.0034	0.0056	0.0011707	181	154602	rs201638935	0.0008	0.0008	0.0007	0.0010	0.0062	0.0008	0.0008	0.0057	0.0056	2.987e-05	0.0002	0.0049	2.519e-05	0.0002	0.0009	0.0004	0.0010	0.0062	0.0006	0.0006	0.0006	0.0006	0.0043	0.0005	0.0005	0.0029	0.0024	2.404e-05	0.0066	0.0001	0.0049	0	0.0002	0	0.0006	0.0005	0.0043	0.054	0.38633	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	U	0.000000	1	0.81001	D	2.485	0.72352	M	1.83	0.24841	T	-2.37	0.52289	N	0.87	0.86725	-0.9100	0.46854	T	0.161	0.49631	T	10	0.014949411	0.00314	T	0.037145	0.57436	D	0.357	0.67782	.	.	0.273070737957	0.26916	0.8027918734261257	0.80233	0.340541529389	0.35994	0.631339550018	0.57335	T	0.11525	0.43369	T	-0.0859125	0.38749	T	0.106428	0.77334	D	0.0742796063423157	0.09240	T	.	.	.	0.7205222	0.79190	0.39464763	0.64153	0.7205222	0.79192	0.39464763	0.64153	-7.334	0.56437	T	.	.	0.967	0.88969	P	.	.	4.804075	0.78081	26.8	0.99801623787436311	0.88639	0.96108	0.67569	D	AEFDGBCI	0.850551	0.76739	D	0.721846975220286	0.81065	7.435673	0.688867755673845	0.81533	7.549076	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.05	5.05	0.67566	7.406000	0.79244	7.640000	0.63152	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	18.783	0.91906	521	0.74284	Folliculin/SMCR8, tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	995.43	33	chr17	18322669	.	C	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.72;DP=436;ExcessHet=0;FS=11.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.793;SOR=1.599	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1370	9	0	1	0
chr17	18340210	18340210	T	C	exonic	SHMT1	.	nonsynonymous SNV	SHMT1:NM_001281786:exon6:c.A233G:p.K78R,SHMT1:NM_004169:exon7:c.A647G:p.K216R,SHMT1:NM_148918:exon7:c.A647G:p.K216R	.	421	1051	48	2	0	52	0.0241411	.	.	.	704009	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0071	0.0151757	0.0062	0.0199	0.0084	0.0024	0	0.0021	0.0088	0.0167	0.0060025	928	154602	rs78909145	0.0034	0.0034	0.0029	0.0039	0.0473	0.0033	0.0033	0.0427	0.0409	0.0210	0.0076	0.0036	0.0010	5.617e-05	0.0473	0.0013	0.0075	0.0184	0.0081	0.0082	0.0081	0.0082	0.0201	0.0078	0.0076	0.0175	0.0170	0.0185	0	0.0097	0.0061	0.0039	0	0.0374	0.0021	0.0137	0.0201	0.038	0.44358	D	0.043	0.49942	D	0.004	0.22573	B	0.021	0.26717	B	0.000068	0.52346	N	0.206980	0.99021	0.41111	D	1.33	0.33268	L	1.38	0.34050	T	-1.21	0.32791	N	0.151	0.16864	-1.0582	0.12209	T	0.041	0.17827	T	10	0.014129251	0.00298	T	.	.	.	0.035	0.08770	.	.	0.528210255337	0.52467	0.4474451742756085	0.44662	0.152257239178	0.17183	0.435752749443	0.29996	T	0.14153	0.47664	T	-0.557501	0.00263	T	-0.557993	0.16564	T	0.0134239098633414	0.00244	T	0.906609	0.67118	D	0.36433715	0.58164	0.21635857	0.46260	0.36433715	0.58164	0.21635857	0.46259	-6.233	0.50171	T	.	.	0.076	0.06159	B	.;.;.	.;.;.	2.220564	0.28336	17.76	0.9970165076275801	0.80660	0.93487	0.58350	D	AEFGBI	0.453719	0.50673	N	-0.124629802319406	0.36321	2.097945	0.0240949506191221	0.40837	2.443514	0.026629716599066	0.13724	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.65	4.57	0.55860	2.194000	0.42301	2.331000	0.32195	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.1416:0.0:0.8584	9.109	0.35876	569	0.70546	.;Serine hydroxymethyltransferase-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.032226	0.025253	0.032609	0.040936	0.050000	0.094828	0.012195	0.030303	0.05	2398.43	34	chr17	18340210	.	T	C	2398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.704;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.738;SOR=0.667	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1219	9	0	1	0
chr17	18750090	18750090	G	A	exonic	FBXW10	.	nonsynonymous SNV	FBXW10:NM_001267585:exon4:c.G952A:p.D318N,FBXW10:NM_001267586:exon4:c.G952A:p.D318N	.	440	1056	24	2	0	28	0.0130841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.0137489159294	0.0042	0.00299521	0.0043	0.0007	0.0009	0	0.0011	0.0066	0.0023	0.0031	0.0018442	48	26028	rs150057313	0.0045	0.0045	0.0044	0.0045	0.0096	0.0044	0.0044	0.0075	0.0068	0.0006	0.0019	0.0102	2.519e-05	0.0009	0.0096	0.0050	0.0039	0.0035	0.0037	0.0037	0.0044	0.0029	0.0063	0.0034	0.0033	0.0058	0.0056	0.0004	0.0121	0.0026	0.0087	0	0.0010	0.0068	0.0063	0.0024	0.0023	0.003	0.68238	D	0.006	0.70582	D	0.682	0.44504	P	0.227	0.44588	B	0.002113	0.37227	U	0.000000	0.999959	0.19072	N	2.565	0.75005	M	1.94	0.30133	T	-3.45	0.67589	D	0.432	0.48963	-1.0464	0.15418	T	0.058	0.24279	T	10	0.011475027	0.00251	T	0.013749	0.33388	T	0.182	0.45420	.	.	0.0401082797425	0.02173	0.1386565937241595	0.13788	.	.	0.418321847916	0.27607	T	0.036653	0.24186	T	-0.595029	0.00156	T	-0.624883	0.10806	T	0.0660018028357799	0.08078	T	0.841416	0.51702	T	0.25057146	0.48059	0.2081788	0.45109	0.25057146	0.48059	0.2081788	0.45108	-10.739	0.79051	D	.	.	0.296	0.52639	B	.;.;.	.;.;.	3.448135	0.47999	22.5	0.99676218287163088	0.78912	0.78469	0.38718	D	AEFGI	0.372938	0.45839	N	0.0141820564769272	0.42500	2.561887	-0.0780726744570453	0.36299	2.110646	6.29446431696768E-5	0.04366	0.516011	0.20929	0	0.547309	0.14657	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.49	2.49	0.29274	6.351000	0.72969	11.507000	0.92987	0.237000	0.18210	1.000000	0.71638	1.000000	0.68203	0.093000	0.17941	0.0:0.0:1.0:0.0	8.538	0.32536	762	0.50290	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007056	0.005051	0.004076	0.008772	0.000000	0.000000	0.018405	0.003788	0.05	1442.43	33	chr17	18750090	.	G	A	1442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.047;DP=462;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.59;MQRankSum=-0.52;QD=11.54;ReadPosRankSum=0.289;SOR=0.79	GT:AD:DP:GQ:PL	0/1:66,59:125:99:1454,0,1656	9	0	1	0
chr17	18971126	18971127	AT	-	exonic	SLC5A10	.	frameshift deletion	SLC5A10:NM_001270648:exon7:c.673_674del:p.M225Vfs*77,SLC5A10:NM_001282417:exon7:c.505_506del:p.M169Vfs*81,SLC5A10:NM_001042450:exon8:c.754_755del:p.M252Vfs*77,SLC5A10:NM_001270649:exon8:c.754_755del:p.M252Vfs*256,SLC5A10:NM_152351:exon8:c.754_755del:p.M252Vfs*81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	.	0.0005	0.0002	0	0	0	0.0008	0.0011	0.0004	0.0004528	70	154602	rs561246041	0.0005	0.0005	0.0004	0.0005	0.0005	0.0004	0.0004	0.0005	0.0005	5.974e-05	2.236e-05	3.826e-05	0	9.381e-05	0.0003	0.0005	0.0006	0.0005	0.0003	0.0003	0.0004	0.0002	0.0008	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0001	0	0	9.416e-05	0	0.0005	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2703.39	36	chr17	18971125	.	CAT	C	2703.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.019;DP=460;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.04;ReadPosRankSum=-0.879;SOR=0.662	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1169	9	0	1	0
chr17	18978292	18978292	C	A	exonic	FAM83G	.	nonsynonymous SNV	FAM83G:NM_001039999:exon5:c.G1374T:p.Q458H	.	422	1096	4	0	0	4	0.00182149	.	.	.	715284	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.135	.	0.0071	0.00159744	0.0072	0.0034	0.0009	0	0.0106	0.0106	0.0071	0.0022	0.0061319	948	154602	rs201344489	0.0087	0.0087	0.0090	0.0085	0.0105	0.0086	0.0086	0.0104	0.0103	0.0014	0.0010	0.0007	0	0.0087	0.0007	0.0105	0.0061	0.0017	0.0058	0.0058	0.0066	0.0050	0.0103	0.0055	0.0054	0.0097	0.0094	0.0019	0	0.0011	0.0003	0	0.0066	0.0034	0.0103	0.0028	0.0023	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.141633	0.02890	N	1.902850	0.978812	0.81001	N	2.175	0.60977	M	2.54	0.13916	T	-0.98	0.25986	N	0.581	0.60325	-1.1156	0.02630	T	0.068	0.28047	T	10	0.0068758726	0.00156	T	.	.	.	0.135	0.36572	0.303	0.27164	0.445107144611	0.44131	0.6915094797184749	0.69090	0.705363785392	0.61389	0.476103782654	0.35520	T	0.013796	0.11864	T	-0.449755	0.01133	T	-0.405845	0.32705	T	0.0184836428964912	0.00564	T	0.584142	0.21248	T	0.097884156	0.23080	0.08502965	0.19604	0.097884156	0.23079	0.08502965	0.19604	-3.935	0.22828	T	.	.	0.189	0.41078	B	.;.	.;.	2.836163	0.37408	20.5	0.99701835176360643	0.80660	0.97783	0.77101	D	AEFDBI	0.456287	0.50822	N	0.401328423078303	0.61497	4.351475	0.360696470305894	0.59155	4.090989	0.28062621842752	0.18985	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	3.62	0.40616	0.690000	0.25132	0.207000	0.15917	0.597000	0.34315	0.998000	0.41325	0.970000	0.29701	0.999000	0.91618	0.0:0.7088:0.0:0.2912	8.571	0.32733	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.005051	0.001362	0.002924	0.000000	0.000000	0.006135	0.000000	0.05	1574.43	34	chr17	18978292	.	C	A	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=450;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=0.848;SOR=0.801	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1010	9	0	1	0
chr17	19415898	19415898	C	T	exonic	RNF112	.	nonsynonymous SNV	RNF112:NM_007148:exon14:c.C1619T:p.T540M	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582145324623	.	0.00139776	0.0007	0	9.048e-05	0.0001	0	0.0001	0.0048	0.0044	0.0005821	90	154602	rs544808951	0.0003	0.0003	0.0002	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	2.239e-05	0	5.038e-05	5.662e-05	0	4.048e-05	0.0005	0.0035	0.0001	0.0001	0.0001	0.0002	0.0035	8.668e-05	7.259e-05	0.0022	0.0018	2.408e-05	0	0	0	0	0	0	2.942e-05	0	0.0035	0.009	0.57480	D	0.133	0.34359	T	.	.	.	.	.	.	.	.	.	.	0.999567	0.47592	D	0	0.06538	N	0.13	0.60973	T	-1.03	0.27052	N	0.373	0.41459	.	.	.	.	.	.	.	0.009559214	0.00215	T	0.582145	0.96259	D	.	.	.	.	0.849206675604	0.84775	0.6764696234528208	0.67585	1.04025779368	0.75768	0.710896730423	0.68723	T	0.185912	0.53903	T	-0.377867	0.03213	T	-0.316394	0.42970	T	.	.	.	0.848415	0.52967	T	0.057322696	0.11392	0.07779316	0.17362	0.057322696	0.11392	0.07779316	0.17362	-4.701	0.33416	T	.	.	0.277	0.51041	B	.	.	4.141151	0.62042	24.4	0.99854220238126434	0.93279	0.42525	0.26897	N	AEFDBI	0.085682	0.17370	N	.	.	.	.	.	.	0.00464647351067735	0.10654	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.49	1.15	0.19876	2.266000	0.42977	4.573000	0.43888	0.599000	0.40250	0.947000	0.32937	1.000000	0.68203	0.999000	0.91618	0.2171:0.4822:0.1833:0.1174	1.959	0.03177	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2363.43	43	chr17	19415898	.	C	T	2363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=578;ExcessHet=0;FS=1.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.219;SOR=0.599	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1213	9	0	1	0
chr17	19656369	19656369	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon4:c.C475T:p.L159F,ALDH3A2:NM_001031806:exon4:c.C475T:p.L159F,ALDH3A2:NM_001369136:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369137:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369138:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369139:exon5:c.C475T:p.L159F,ALDH3A2:NM_001369146:exon5:c.C475T:p.L159F	Sjogren-Larsson syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.612	0.108149247733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.841e-07	0	1.376e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.59928	D	0.137	0.33894	T	0.999	0.90584	D	0.988	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.38	0.34346	L	-1.13	0.77719	T	-2.6	0.61722	D	0.569	0.67822	-0.2896	0.75276	T	0.465	0.79301	T	10	0.6122588	0.67509	D	0.108149	0.78454	D	0.612	0.84826	0.555	0.67271	0.871998136743	0.87075	0.6741759750367501	0.67355	0.882093243654	0.69809	0.48786854744	0.37144	T	0.654317	0.89548	D	0.181093	0.72142	D	0.0223517	0.71782	D	0.972841382026672	0.69858	D	0.927507	0.73308	D	0.8255387	0.85595	0.6425163	0.79109	0.8255387	0.85597	0.6425163	0.79110	-4.833	0.35622	T	0.3194412099042188	0.41755	0.293	0.52459	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.572320	0.50323	22.9	0.99873465643319759	0.95076	0.96312	0.68525	D	AEFDBI	0.553788	0.56490	D	0.31923462903431	0.57137	3.879924	0.3029993551499	0.55714	3.734408	0.999982803515169	0.51787	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	3.73	0.41982	2.842000	0.47931	1.383000	0.26051	0.529000	0.24592	0.990000	0.36992	0.825000	0.27162	0.218000	0.22407	0.0:0.8515:0.0:0.1485	11.152	0.47692	740	0.53092	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	46.13	44	chr17	19656369	.	C	T	46.13	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.552;DP=467;ExcessHet=0.2348;FS=30.657;InbreedingCoeff=-0.1096;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.93;SOR=5.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:16:0|1:19656367_A_G:16,0,1301:19656367	8	0	2	0
chr17	20232380	20232380	G	A	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon5:c.G2083A:p.V695M,SPECC1:NM_001033555:exon5:c.G2083A:p.V695M,SPECC1:NM_001243438:exon5:c.G2083A:p.V695M,SPECC1:NM_001033553:exon7:c.G2326A:p.V776M,SPECC1:NM_001243439:exon7:c.G2326A:p.V776M,SPECC1:NM_152904:exon7:c.G2326A:p.V776M	.	419	1060	41	2	0	45	0.0207852	.	.	.	2811143	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00386095762704	0.0006	0.00139776	0.0022	0	0.0014	0	0	0.0017	0.0071	0.0073	0.0015653	242	154602	rs145743421	0.0012	0.0012	0.0009	0.0014	0.0192	0.0011	0.0011	0.0163	0.0152	0.0003	0.0008	0.0002	0	0.0001	0.0192	0.0007	0.0018	0.0067	0.0009	0.0009	0.0007	0.0010	0.0060	0.0007	0.0007	0.0043	0.0037	0.0001	0	0.0008	0	0	0	0.0170	0.0011	0.0024	0.0060	0.232	0.49117	T	0.073	0.43159	T	0.148	0.27908	B	0.058	0.26451	B	.	.	.	.	0.999962	0.18878	N	1.445	0.36358	L	0.87	0.46412	T	-0.13	0.12099	N	0.225	0.25622	-1.0323	0.19713	T	0.032	0.13942	T	9	0.0046572387	0.00097	T	0.003861	0.09055	T	0.057	0.16321	.	.	0.307966526162	0.30417	0.10910592302382832	0.10839	0.0941472671673	0.10632	0.285829782486	0.08318	T	0.01536	0.12902	T	-0.518326	0.00450	T	-0.513171	0.20990	T	0.0181061043531632	0.00533	T	0.755524	0.37862	T	0.023999518	0.01190	0.05838911	0.10780	0.023999518	0.01190	0.05838911	0.10779	-5.403	0.41407	T	.	.	0.100	0.22135	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.383666	0.17953	13.47	0.9110648896828234	0.20359	0.58695	0.30711	D	AEFBCI	0.106355	0.21223	N	-0.95251773179994	0.09636	0.4569352	-0.857123535416495	0.13117	0.6786628	0.107333532721448	0.16553	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.22	0.748	0.17525	2.643000	0.46271	5.093000	0.47370	-0.797000	0.03199	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	0.3204:0.0925:0.1737:0.4134	1.028	0.01437	580	0.69689	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011759	0.005263	0.023098	0.002959	0.000000	0.008621	0.015625	0.003906	0.05	2054.43	34	chr17	20232380	.	G	A	2054.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.861;DP=462;ExcessHet=0;FS=6.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.196;SOR=0.359	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1147	9	0	1	0
chr17	21304480	21304480	A	T	exonic	MAP2K3	.	nonsynonymous SNV	MAP2K3:NM_002756:exon8:c.A536T:p.D179V,MAP2K3:NM_145109:exon8:c.A623T:p.D208V,MAP2K3:NM_001316332:exon9:c.A536T:p.D179V	.	381	1110	31	0	0	31	0.0137717	.	.	.	727068	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.847	0.464794937955	0.0005	.	0.0019	0	0.0014	0.0001	0	0.0010	0.0033	0.0090	0.0015718	243	154602	rs138917253	0.0006	0.0012	0.0004	0.0007	0.0079	0.0005	0.0005	0.0061	0.0054	0	0.0006	0.0043	0	0	0.0079	0.0002	0.0012	0.0044	0.0008	0.0009	0.0006	0.0010	0.0089	0.0007	0.0006	0.0068	0.0061	2.403e-05	0	0.0016	0.0055	0	0	0	0.0004	0.0019	0.0089	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	4.955	0.99831	H	-3.16	0.92996	D	-8.78	0.97757	D	0.969	0.98750	0.979	0.96843	D	0.944	0.98156	D	10	0.13991159	0.26598	T	0.464795	0.94577	D	0.847	0.95249	.	.	0.982758890268	0.98257	0.9652089549291394	0.96507	0.721303731507	0.62229	0.802632689476	0.82365	T	0.554346	0.84967	D	0.516752	0.94802	D	0.504502	0.94726	D	0.342278975922263	0.26714	T	0.998371	0.99212	D	0.96212345	0.97493	0.9379656	0.97633	0.96212345	0.97494	0.9379656	0.97633	-12.846	0.89281	D	.	.	1.0	0.99952	P	.;.;.;.	.;.;.;.	4.977128	0.82420	27.8	0.99416516453624582	0.63549	0.93551	0.58526	D	AEFDGBCI	0.925047	0.90398	D	0.891351639030804	0.91329	10.82895	0.722524506376995	0.84091	8.195875	0.999999998996492	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.98	3.9	0.44240	7.387000	0.79051	11.205000	0.89184	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.9237:0.0:0.0763:0.0	10.597	0.44533	814	0.42100	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.014620	0.000000	0.000000	0.006098	0.015152	0.05	1394.43	104	chr17	21304480	.	A	T	1394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.291;DP=1213;ExcessHet=0;FS=0.996;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.45;MQRankSum=-1.39;QD=4.47;ReadPosRankSum=0.912;SOR=0.762	GT:AD:DP:GQ:PL	0/0:97,0:97:99:0,120,1800	9	0	1	0
chr17	21415750	21415750	C	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.C408G:p.F136L	.	381	1118	23	0	0	23	0.0101815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.958	0.545636291256	.	.	0.0002	0	8.654e-05	0	0	7.552e-05	0	0.0013	.	.	.	rs781875412	2.949e-05	0.0008	2.046e-05	3.863e-05	0.0009	2.222e-05	1.975e-05	0.0003	0.0002	0	4.48e-05	0.0001	0	0	0.0009	7.197e-06	6.646e-05	0.0002	0.0002	0.0006	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0002	0.0023	0	0	0	0.0001	0.0005	0.0033	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	-4.71	0.98035	D	-5.88	0.88699	D	0.896	0.89577	1.098	0.99577	D	0.966	0.98927	D	10	0.85857594	0.85065	D	0.545636	0.95789	D	0.958	0.99315	0.927	0.98806	0.878391582298	0.87719	0.9717239762495926	0.97161	0.471099041256	0.46381	0.914981842041	0.97919	D	0.542138	0.84342	D	0.554816	0.95998	D	0.559178	0.95937	D	0.970819294452667	0.69087	D	0.944506	0.78979	D	0.6495103	0.75338	0.6813559	0.81274	0.6495103	0.75339	0.6813559	0.81275	-6.563	0.50770	T	.	.	0.997	0.96728	P	.;.	.;.	4.689164	0.75117	26.3	0.99871891625946685	0.94902	0.98578	0.84304	D	AEFDGBI	0.861279	0.77931	D	0.873581260021997	0.90406	10.38987	0.806051292425285	0.90211	10.30519	0.999999999999999	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.23	5.23	0.72570	6.034000	0.70575	2.765000	0.34631	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.791	0.91939	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	331.43	227	chr17	21415750	.	C	G	331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.735;DP=2212;ExcessHet=0;FS=1.665;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.22;MQRankSum=-6.963;QD=1.71;ReadPosRankSum=0.733;SOR=0.91	GT:AD:DP:GQ:PL	0/0:227,0:227:99:0,120,1800	9	0	1	0
chr17	21415779	21415779	A	G	exonic	KCNJ12	.	nonsynonymous SNV	KCNJ12:NM_021012:exon3:c.A437G:p.Y146C	.	378	1122	22	0	0	22	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.963	0.459199930642	.	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0009	.	.	.	rs782138834	6.172e-05	0.0009	4.501e-05	7.861e-05	0.0018	5.107e-05	4.727e-05	0.0010	0.0007	0	4.478e-05	0.0002	0	0	0.0018	1.439e-05	0.0001	0.0006	0.0003	0.0007	0.0003	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	0	0	0.0003	0.0032	0	0	0	0.0002	0.0005	0.0044	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.475	0.92503	M	-5.12	0.98731	D	-8.83	0.97830	D	0.972	0.98268	1.068	0.98541	D	0.978	0.99310	D	10	0.9367713	0.93006	D	0.459	0.94482	D	0.963	0.99463	.	.	0.806824881749	0.80501	0.9945135510146457	0.99448	0.509770243166	0.49108	0.874587655067	0.93218	D	0.682892	0.90706	D	0.539453	0.95452	D	0.537111	0.95385	D	0.997669994831085	0.92113	D	0.978802	0.92599	D	0.8941172	0.90863	0.7181423	0.83361	0.8941172	0.90864	0.7181423	0.83362	-10.462	0.76628	D	.	.	0.998	0.97160	P	.;.	.;.	5.412050	0.90588	31	0.99816643049989306	0.89973	0.98064	0.79293	D	AEFDGBI	0.951342	0.96581	D	0.964376757520922	0.94538	12.83714	0.886076537140839	0.94936	13.16848	0.999999999998906	0.74766	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.32	5.32	0.75377	9.158000	0.93873	11.264000	0.91177	0.749000	0.86810	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.280	0.73481	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	530.43	230	chr17	21415779	.	A	G	530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=2249;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.09;MQRankSum=-6.693;QD=2.43;ReadPosRankSum=0.371;SOR=0.811	GT:AD:DP:GQ:PL	0/0:243,0:243:99:0,120,1800	9	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I,LGALS9:NM_002308:exon8:c.G579T:p.M193I,LGALS9:NM_009587:exon9:c.G675T:p.M225I	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016060	0.005208	0.008152	0.033058	0.062500	0.000000	0.031646	0.026718	0.1	7116.14	33	chr17	27647035	.	G	T	7116.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.86;DP=932;ExcessHet=0.2348;FS=1.107;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.623;SOR=0.791	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1392	8	0	2	0
chr17	28613589	28613589	G	A	exonic	RSKR	.	nonsynonymous SNV	RSKR:NM_001174103:exon2:c.C175T:p.R59W	.	439	1063	20	0	0	20	0.00931966	.	.	.	3316818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0231398134118	0.0007	0.000798722	0.0012	0	0.0007	0	0	0.0013	0.0033	0.0025	0.0010543	163	154602	rs145445550	0.0008	0.0008	0.0007	0.0009	0.0137	0.0008	0.0007	0.0113	0.0104	5.974e-05	0.0007	0.0085	0	1.872e-05	0.0137	0.0004	0.0018	0.0031	0.0007	0.0007	0.0007	0.0007	0.0041	0.0006	0.0006	0.0027	0.0023	9.629e-05	0	0.0005	0.0078	0	9.43e-05	0.0068	0.0007	0.0009	0.0041	0.057	0.43085	T	0.065	0.47581	T	.	.	.	.	.	.	0.851461	0.08959	N	0.923487	1	0.08975	N	.	.	.	-0.46	0.70014	T	-1.79	0.42191	N	0.286	0.33796	-0.9620	0.38800	T	0.156	0.48841	T	10	0.004371971	0.00089	T	0.02314	0.46083	T	0.038	0.09825	.	.	0.451599300725	0.44785	0.46210463325628254	0.46128	0.0916761220119	0.10349	.	.	.	.	.	.	-0.369602	0.03614	T	-0.307988	0.43875	T	0.0149468605264926	0.00319	T	0.711229	0.33361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26138	B	.;.;.;.;.	.;.;.;.;.	2.424130	0.31176	18.66	0.94354184642090078	0.24707	0.14794	0.18588	N	AEFDGBHCI	0.235967	0.35848	N	-0.804347519278457	0.13198	0.648553	-0.801302666700953	0.14464	0.7558717	0.985928176138972	0.30973	0.650006	0.45971	0	0.577304	0.33150	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.0	1.78	0.23918	1.841000	0.38881	1.466000	0.26718	0.676000	0.76740	0.064000	0.21895	0.002000	0.18203	0.564000	0.30507	0.1698:0.0:0.674:0.1562	5.661	0.16945	224	0.91330	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.010870	0.014620	0.000000	0.008621	0.006098	0.007576	0.05	1664.43	35	chr17	28613589	.	G	A	1664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.57;DP=453;ExcessHet=0;FS=1.333;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.386;SOR=0.83	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr17	28683349	28683349	C	A	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon16:c.C1960A:p.L654I,SUPT6H:NM_001320755:exon17:c.C1960A:p.L654I	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0168656344412	0.0004	0.000798722	0.0007	0.0002	0.0003	0	0	0.0006	0.0011	0.0027	0.0006986	108	154602	rs141330818	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	8.961e-05	8.944e-05	0.0003	0	5.616e-05	0.0057	0.0003	0.0010	0.0029	0.0006	0.0007	0.0006	0.0007	0.0033	0.0005	0.0005	0.0021	0.0017	9.625e-05	0.0307	0.0003	0.0003	0	0	0	0.0006	0.0009	0.0033	0.218	0.19090	T	0.246	0.23984	T	0.988	0.62325	D	0.695	0.53983	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-0.17	0.65563	T	-1.42	0.34992	N	0.85	0.84609	-0.5180	0.67989	T	0.307	0.67795	T	10	0.024487287	0.00675	T	0.016866	0.38326	T	0.254	0.56428	.	.	0.518009022472	0.51444	0.5230107651206027	0.52224	1.61380097712	0.88956	0.765939176083	0.76815	T	0.353115	0.72045	T	-0.172335	0.24881	T	-0.0236881	0.68787	D	0.127058178186417	0.15108	T	0.90061	0.65471	D	0.2382516	0.46701	0.21226041	0.45688	0.2382516	0.46701	0.21226041	0.45687	-10.15	0.74805	D	.	.	0.291	0.52227	B	.;.	.;.	3.760351	0.53956	23.4	0.99350505468094485	0.60574	0.93490	0.58359	D	AEFBCI	0.602556	0.59437	D	0.519913176184342	0.68268	5.193882	0.528584493479893	0.69923	5.429898	0.934179830466613	0.27159	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.791000	0.47520	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.934	0.92551	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	1717.43	76	chr17	28683349	.	C	A	1717.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.184;DP=589;ExcessHet=0;FS=2.14;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.377;SOR=0.494	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,120,1800	9	0	1	0
chr17	29253757	29253757	G	A	exonic	CRYBA1	.	nonsynonymous SNV	CRYBA1:NM_005208:exon5:c.G475A:p.G159S	Cataract 10, multiple types, Autosomal dominant	0	1516	6	0	0	6	0.00197498	.	.	.	79364	Cataract_10_multiple_types|not_specified	MONDO:MONDO:0010948,MedGen:C1833229,OMIM:600881,Orphanet:91492|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.596	0.0745515844888	0.0037	0.000599042	0.0022	0.0007	0.0006	0	0.0003	0.0036	0	0.0007	0.0023609	365	154602	rs117757092	0.0037	0.0037	0.0038	0.0036	0.0046	0.0036	0.0036	0.0045	0.0045	0.0005	0.0009	0.0010	2.519e-05	0.0005	0.0003	0.0046	0.0020	0.0008	0.0022	0.0022	0.0026	0.0018	0.0041	0.0020	0.0019	0.0037	0.0036	0.0010	0	0.0004	0.0009	0	9.432e-05	0	0.0041	0.0014	0.0004	0.176	0.22312	T	0.17	0.30436	T	0.996	0.68779	D	0.879	0.62418	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.99	0.53851	M	-0.91	0.75001	T	-2.72	0.57920	D	0.857	0.85343	-0.0865	0.80406	T	0.454	0.78685	T	10	0.0761165	0.11850	T	0.074552	0.72069	D	0.596	0.83965	.	.	0.916343082496	0.91550	0.6397406495571112	0.63909	0.959537596285	0.72949	0.637811839581	0.58253	T	0.52439	0.83426	D	-0.119913	0.33139	T	0.0573117	0.74067	D	0.0269488873355746	0.01537	T	0.927907	0.73422	D	0.42008415	0.62097	0.48358646	0.70103	0.5174616	0.68115	0.4306766	0.66710	-7.543	0.57912	D	.	.	0.279	0.51218	B	.	.	5.030779	0.83670	28.1	0.99852869008461642	0.93191	0.96045	0.67284	D	AEFDGBCI	0.907113	0.86073	D	0.745598416406022	0.82618	7.807232	0.731303318844044	0.84754	8.381308	0.999999999999799	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	5.43	5.43	0.79006	9.540000	0.97163	11.814000	0.97026	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.917000	0.45243	0.0:0.0:1.0:0.0	18.810	0.92019	323	0.86843	Beta/gamma crystallin|Beta/gamma crystallin|Beta/gamma crystallin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	475.43	36	chr17	29253757	.	G	A	475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=399;ExcessHet=0;FS=2.165;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.99;ReadPosRankSum=-0.973;SOR=1.121	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr17	29969063	29969063	A	G	exonic	EFCAB5	.	nonsynonymous SNV	EFCAB5:NM_001145053:exon4:c.A295G:p.N99D,EFCAB5:NM_198529:exon4:c.A463G:p.N155D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00395551900957	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1336487509	2.057e-06	2.052e-06	1.364e-06	2.759e-06	2.356e-05	5.5e-07	1.5e-07	3.91e-06	1.46e-06	0	0	0	0	0	0	0	1.659e-05	2.356e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	0.25664	T	0.0	0.92824	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	0.998547	0.45064	D	0.895	0.22405	L	1.94	0.22678	T	-3.5	0.68178	D	0.153	0.17966	-1.0091	0.27198	T	0.035	0.15291	T	9	0.029424429	0.01070	T	0.003956	0.09337	T	0.039	0.10176	0.145	0.04843	0.132336055621	0.12781	0.06998607720873691	0.06935	0.11607837955	0.13092	0.371024727821	0.20979	T	0.002961	0.02360	T	-0.355971	0.04363	T	-0.646161	0.09226	T	0.0343665445450121	0.02699	T	0.591441	0.21800	T	0.059829608	0.12206	0.08103239	0.18381	0.059829608	0.12205	0.08103239	0.18380	-3.049	0.10719	T	.	.	0.105	0.19276	B	.;.;.	.;.;.	1.153573	0.15417	11.84	0.96311138132076757	0.29380	0.16075	0.19219	N	AEI	0.056271	0.10389	N	-0.713600297531013	0.15638	0.7899083	-0.623504585354171	0.18890	1.011127	2.25503352801043E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.57	-1.67	0.07798	0.063000	0.14285	0.562000	0.19521	0.756000	0.94297	0.199000	0.24297	0.705000	0.26257	0.989000	0.64315	0.1867:0.0:0.5331:0.2803	6.672	0.22265	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1259.43	39	chr17	29969063	.	A	G	1259.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.772;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.639;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1004	9	0	1	0
chr17	31527843	31527843	G	T	exonic	RAB11FIP4	.	nonsynonymous SNV	RAB11FIP4:NM_001346749:exon7:c.G496T:p.V166L,RAB11FIP4:NM_001346747:exon8:c.G775T:p.V259L,RAB11FIP4:NM_001303542:exon9:c.G970T:p.V324L,RAB11FIP4:NM_001346748:exon9:c.G853T:p.V285L,RAB11FIP4:NM_032932:exon11:c.G1276T:p.V426L	.	421	1087	13	1	0	15	0.00685244	0.7990	0.654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00475352565605	0.0005	0.00219649	0.0024	0.0002	0	0	0.0004	0.0018	0.0023	0.0077	0.001326	205	154602	rs149307417	0.0011	0.0011	0.0009	0.0013	0.0076	0.0010	0.0010	0.0060	0.0058	8.979e-05	0.0001	0.0082	0	1.892e-05	0.0076	0.0006	0.0016	0.0065	0.0007	0.0007	0.0006	0.0008	0.0046	0.0006	0.0006	0.0031	0.0026	0.0001	0	6.537e-05	0.0066	0	9.43e-05	0	0.0008	0.0024	0.0046	.	.	.	1.0	0.04104	T	0.019	0.23796	B	0.007	0.25434	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.85	0.21244	L	.	.	.	.	.	.	0.478	0.51851	-1.0090	0.27230	T	0.119	0.41799	T	8	0.008194476	0.00186	T	0.004754	0.11847	T	0.135	0.36572	0.223	0.14665	0.138757226776	0.13463	0.3941237701467824	0.39327	.	.	0.680409491062	0.64326	T	0.039924	0.25355	T	-0.274216	0.11291	T	-0.164334	0.57959	T	0.0212019009167872	0.00822	T	0.853715	0.57909	D	0.16807476	0.37243	0.19039187	0.42440	0.16807476	0.37243	0.19039187	0.42439	-1.166	0.02317	T	.	.	0.180	0.39203	B	.;.	.;.	3.233420	0.44108	21.9	0.97194025010433016	0.32779	0.94664	0.61908	D	AEFDBHCIJ	0.823946	0.74395	D	0.0426468319480842	0.43806	2.666321	0.265647799341322	0.53545	3.522865	0.99999998251004	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.665031	0.64506	0	.	.	5.67	5.67	0.87673	6.425000	0.73295	11.846000	0.97940	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.810000	0.38174	0.0:0.0:1.0:0.0	17.276	0.87003	914	0.21048	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1077.43	34	chr17	31527843	.	G	T	1077.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.481;DP=397;ExcessHet=0;FS=2.852;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=1.37;SOR=0.518	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1190	9	0	1	0
chr17	31853003	31853003	T	A	exonic	COPRS	.	nonsynonymous SNV	COPRS:NM_001330176:exon3:c.A158T:p.D53V,COPRS:NM_018405:exon3:c.A194T:p.D65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0109373604764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.364	0.17372	T	0.899	0.49514	P	0.648	0.52381	P	0.791415	0.06714	N	1.110750	0.999997	0.08975	N	2.215	0.62545	M	0.87	0.46412	T	-4.24	0.76576	D	0.324	0.36464	-1.0201	0.23682	T	0.101	0.37518	T	10	0.14411488	0.27354	T	0.010937	0.28041	T	0.087	0.25287	0.142	0.04556	0.479604954264	0.47592	0.10759398737906725	0.10688	0.496920850416	0.48186	0.27172061801	0.06367	T	0.057327	0.31417	T	-0.11284	0.34300	T	-0.399863	0.33400	T	0.893730401992798	0.54500	D	0.80342	0.45053	T	0.26494578	0.49563	0.14005989	0.33397	0.26494578	0.49563	0.14005989	0.33397	-3.287	0.13570	T	.	.	0.150	0.34227	B	.;.;.	.;.;.	2.851268	0.37648	20.5	0.34771599078231885	0.02145	0.05710	0.11632	N	AEFBI	0.136088	0.25663	N	-0.481893941745676	0.22674	1.212383	-0.657181410243177	0.18035	0.9616963	1.43351657189065E-5	0.02871	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.45	0.827	0.17972	0.766000	0.26225	0.842000	0.22053	0.587000	0.30956	0.003000	0.16062	0.001000	0.17328	0.132000	0.19645	0.1884:0.219:0.0:0.5926	2.757	0.04970	920	0.19381	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	673.43	33	chr17	31853003	.	T	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=365;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.264;SOR=0.904	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	9	0	1	0
chr17	31937457	31937457	G	A	exonic	SUZ12	.	nonsynonymous SNV	SUZ12:NM_001321207:exon1:c.G211A:p.V71M,SUZ12:NM_015355:exon1:c.G211A:p.V71M	.	367	1147	6	2	0	10	0.00434028	.	.	.	715362	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.334	.	.	0.00319489	0.0048	0	0.0125	0	0.0208	0.0061	0.0049	0.0014	0.0010414	161	154602	rs149833913	0.0044	0.0043	0.0045	0.0043	0.0044	0.0043	0.0043	0.0043	0.0043	0.0005	0.0037	0.0004	2.856e-05	0.0184	0.0033	0.0044	0.0037	0.0020	0.0046	0.0046	0.0041	0.0052	0.0057	0.0043	0.0042	0.0047	0.0044	0.0010	0	0.0057	0.0003	0	0.0190	0	0.0050	0.0071	0.0025	0.02	0.49613	D	0.004	0.74150	D	0.971	0.57185	D	0.543	0.48966	P	0.000121	0.49741	D	0.131460	0.999776	0.48980	D	1.24	0.30952	L	-1.94	0.84919	D	-0.55	0.16799	N	0.257	0.31814	0.037	0.82990	D	0.446	0.78209	T	10	0.006335616	0.00143	T	.	.	.	0.334	0.65620	.	.	0.44480088601	0.44098	0.2840232617009106	0.28315	1.37602116957	0.84662	0.937947750092	0.99375	D	0.14189	0.47719	T	-0.265505	0.12264	T	-0.151821	0.59083	T	0.0172748898418403	0.00468	T	0.927507	0.73308	D	0.15112306	0.34370	0.096347	0.22888	0.15112306	0.34370	0.096347	0.22887	-4.805	0.34650	T	0.2244740095278941	0.30315	0.231	0.46413	B	.;.	.;.	4.487225	0.70057	25.5	0.98600551987052076	0.43493	0.61070	0.31377	D	AEFDGBHCI	0.474341	0.51864	N	0.410107093658854	0.61977	4.406428	0.485971367434512	0.67061	5.033685	0.999999999987799	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	5.13	5.13	0.69729	6.272000	0.72589	11.456000	0.92812	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.573	0.91100	955	0.09969	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004860	0.005155	0.000000	0.000000	0.000000	0.000000	0.017241	0.004717	0.05	1738.43	34	chr17	31937457	.	G	A	1738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.429;DP=458;ExcessHet=0;FS=3.918;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=0.14;QD=12.16;ReadPosRankSum=-1.92;SOR=0.954	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1135	9	0	1	0
chr17	32772809	32772809	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A598G:p.S200G,MYO1D:NM_001303280:exon5:c.A598G:p.S200G,MYO1D:NM_015194:exon5:c.A598G:p.S200G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.466	0.032246938522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.012	0.79402	D	0.238	0.30817	B	0.186	0.36104	B	0.000235	0.47286	U	0.000000	0.999956	0.52396	D	0.88	0.21560	L	-0.67	0.95458	T	-1.36	0.33798	N	0.868	0.86833	-0.5632	0.66282	T	0.262	0.63285	T	10	0.94663495	0.93990	D	0.032247	0.54125	D	0.466	0.76156	0.891	0.97367	0.918392079262	0.91757	0.6648944906029628	0.66426	0.298669409922	0.32248	0.602323949337	0.53232	T	0.463674	0.79953	T	0.292466	0.82359	D	0.18233	0.82130	D	0.773878216743469	0.44673	D	0.892511	0.80045	D	0.2297747	0.45720	0.18961799	0.42318	0.2297747	0.45720	0.18961799	0.42317	-7.313	0.56288	T	.	.	0.142	0.40666	B	.;.;.;.	.;.;.;.	4.253572	0.64587	24.7	0.99747483139176962	0.84002	0.96942	0.71786	D	ALL	0.878137	0.80321	D	0.232848962952929	0.52795	3.45168	0.377921116790731	0.60204	4.20566	0.999999998871527	0.74766	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	5.49	0.81022	7.209000	0.77424	7.870000	0.71911	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.537	0.61111	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	90.43	33	chr17	32772809	.	T	C	90.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=499;ExcessHet=0;FS=62.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.836;SOR=6.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1273:.	9	0	1	0
chr17	32772812	32772812	T	C	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon5:c.A595G:p.R199G,MYO1D:NM_001303280:exon5:c.A595G:p.R199G,MYO1D:NM_015194:exon5:c.A595G:p.R199G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877	0.440725010837	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1208512359	6.844e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.986	0.61523	D	0.883	0.62698	P	0.001473	0.38917	U	0.000000	0.999946	0.51968	D	3.86	0.95841	H	-3.35	0.94022	D	-6.71	0.92518	D	0.971	0.98750	0.946	0.96331	D	0.923	0.97449	D	10	0.9905145	0.99555	D	0.440725	0.94160	D	0.877	0.96354	0.952	0.99447	0.90932008115	0.90841	0.9313293182321638	0.93111	1.08031386052	0.77120	0.704014003277	0.67724	T	0.855793	0.96757	D	0.426531	0.91353	D	0.47176	0.94049	D	0.996968924999237	0.90465	D	0.988801	0.96179	D	0.8308182	0.85959	0.7899371	0.87642	0.8308182	0.85960	0.7899371	0.87643	-13.871	0.92631	D	.	.	0.939	0.89791	P	.;.;.;.	.;.;.;.	4.162975	0.62537	24.5	0.99859517789585672	0.93820	0.88549	0.48528	D	ALL	0.461771	0.51140	N	0.632332884274489	0.75231	6.269389	0.486951710543846	0.67126	5.042281	0.998879535089024	0.37868	0.722319	0.85440	0	0.623229	0.53319	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	5.49	3.15	0.35301	1.888000	0.39342	2.625000	0.33658	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.3242:0.6758	10.528	0.44148	940	0.13648	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	43.43	33	chr17	32772812	.	T	C	43.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.651;DP=389;ExcessHet=0;FS=33.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=1.79;SOR=4.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1273:.	9	0	1	0
chr17	34626316	34626316	A	C	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.A257C:p.E86A	.	421	1083	17	1	0	19	0.00869565	.	.	.	1246008	Hearing_loss,_autosomal_recessive_99|not_provided|not_specified	MONDO:MONDO:0032776,MedGen:C4760579,OMIM:618481|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0156382407016	0.0008	0.000399361	0.0015	0.0001	0.0002	0	0	0.0012	0.0031	0.0051	0.0010026	155	154602	rs147874855	0.0008	0.0008	0.0006	0.0009	0.0052	0.0007	0.0007	0.0048	0.0046	2.989e-05	0.0002	0.0124	2.522e-05	0	0.0038	0.0002	0.0014	0.0052	0.0005	0.0005	0.0005	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	2.406e-05	0	0.0003	0.0101	0.0002	0	0	0.0002	0.0005	0.0048	0.803	0.03093	T	0.225	0.25514	T	0.939	0.52645	P	0.4	0.44481	B	0.000001	0.84330	D	0.053822	0.800889	0.34509	D	0.46	0.12951	N	2.72	0.11947	T	-1.89	0.44094	N	0.524	0.55366	-1.0354	0.18731	T	0.024	0.10194	T	10	0.007769197	0.00176	T	0.015638	0.36485	T	0.105	0.29889	.	.	0.101711395817	0.09552	0.39177012133355504	0.39092	0.993255338325	0.74148	0.557775259018	0.46954	T	0.007693	0.19136	T	-0.502461	0.00554	T	-0.493574	0.23017	T	0.0385352489959301	0.03427	T	0.89921	0.70434	D	0.28336868	0.51369	0.3393668	0.59703	0.3814324	0.59420	0.36686766	0.62008	-2.705	0.07346	T	.	.	0.158	0.39613	B	.;.	.;.	4.169213	0.62671	24.5	0.98468867638673319	0.41826	0.93341	0.57958	D	AEFDBHCI	0.631466	0.61243	D	0.105800735716619	0.46734	2.909205	0.198485047167477	0.49764	3.175798	0.999829391747232	0.43622	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.91	4.91	0.63897	4.374000	0.59312	11.036000	0.85117	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.729	0.62258	970	0.06235	Transmembrane protein TMEM132, N-terminal;Transmembrane protein TMEM132, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.006793	0.005848	0.050000	0.000000	0.000000	0.007576	0.1	1354.14	39	chr17	34626316	.	A	C	1354.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.418;DP=457;ExcessHet=0.2348;FS=0.612;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=2.56;SOR=0.608	GT:AD:DP:GQ:PL	0/1:40,27:67:99:583,0,937	8	0	2	0
chr17	35129437	35129437	G	C	exonic	FNDC8	.	nonsynonymous SNV	FNDC8:NM_017559:exon3:c.G601C:p.A201P	.	427	1093	1	0	1	2	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00499171307736	.	.	2.475e-05	0	0	0	0	3.001e-05	0	6.08e-05	1.94e-05	3	154602	rs889890231	9.578e-06	9.577e-06	5.445e-06	1.375e-05	3.478e-05	5.56e-06	4.35e-06	9.24e-06	4.56e-06	0	0	0	0	0	0	9.894e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.0	0.92824	D	0.137	0.27402	B	0.066	0.27432	B	0.497884	0.11983	N	0.739630	1	0.08975	N	0.975	0.24501	L	0.96	0.42888	T	-3.08	0.63323	D	0.392	0.43320	-1.0381	0.17893	T	0.050	0.21261	T	10	0.10966945	0.20467	T	0.004992	0.12598	T	0.060	0.17295	0.615	0.74884	0.0138822411134	0.00435	0.34983940081898546	0.34897	0.152324165258	0.17189	0.383623242378	0.22769	T	0.053402	0.29434	T	-0.276282	0.11067	T	-0.504186	0.21915	T	0.14050920794274	0.16319	T	0.539746	0.18256	T	0.28245053	0.51281	0.33366433	0.59201	0.28245053	0.51281	0.33366433	0.59200	-2.217	0.04124	T	.	.	0.376	0.58191	A	.	.	2.010724	0.25550	16.80	0.97358282640090299	0.33558	0.07919	0.13906	N	AEFDBHCI	0.071574	0.14253	N	-0.819087064099475	0.12822	0.6275609	-0.822016559868045	0.13962	0.7271137	0.999577279624649	0.40495	0.660377	0.49826	0	0.694456	0.67091	0	0.489635	0.07774	0	0.592323	0.36904	0	.	.	5.24	-2.38	0.06243	0.373000	0.20215	0.820000	0.21843	0.676000	0.76740	0.020000	0.19661	0.056000	0.21938	0.980000	0.58198	0.1734:0.1374:0.2686:0.4206	1.296	0.01943	925	0.17918	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2047.14	75	chr17	35129437	.	G	C	2047.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.065;DP=455;ExcessHet=0.2348;FS=6.877;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.599;SOR=0.352	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1037	8	0	2	0
chr17	35265106	35265106	C	T	exonic	SLFN5	.	nonsynonymous SNV	SLFN5:NM_144975:exon5:c.C1894T:p.R632W	.	431	1085	5	1	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	.	7.7e-05	0.0103834	0.0047	0.0005	8.648e-05	0.0001	0	1.51e-05	0.0034	0.0353	0.0041203	637	154602	rs377005010	0.0019	0.0019	0.0011	0.0026	0.0293	0.0018	0.0018	0.0284	0.0280	0.0002	0	0	7.558e-05	0	0.0009	4.138e-05	0.0024	0.0293	0.0011	0.0011	0.0005	0.0018	0.0332	0.0010	0.0009	0.0290	0.0274	0.0002	0	0	0	0	0	0	4.41e-05	0.0005	0.0332	0.025	0.47320	D	0.0	0.92824	D	0.607	0.39488	P	0.118	0.32088	B	0.003538	0.34820	N	0.000000	0.803088	0.81001	D	2.955	0.85029	M	-1.96	0.85091	D	-6.35	0.90976	D	0.579	0.60071	-0.2490	0.76387	T	0.454	0.78703	T	10	0.0072906315	0.00166	T	.	.	.	0.560	0.81946	.	.	0.793167659764	0.79124	0.5150728792062971	0.51430	0.0891160737767	0.10071	0.43927308917	0.30477	T	0.069081	0.33621	T	-0.170347	0.25182	T	0.00621658	0.70738	D	0.135561841435139	0.15886	T	0.958804	0.84482	D	0.17199844	0.37865	0.21237683	0.45704	0.17199844	0.37865	0.21237683	0.45703	-8.686	0.65654	D	.	.	0.268	0.50232	B	.	.	3.901650	0.56841	23.8	0.99562287055590459	0.71831	0.55984	0.30002	D	AEFBI	0.302629	0.41082	N	-0.120684219932541	0.36492	2.110103	-0.166264362806132	0.32787	1.868807	0.013306487183894	0.12446	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.27	2.29	0.27658	0.280000	0.18550	0.647000	0.20375	0.549000	0.26987	0.296000	0.25288	0.000000	0.08366	0.955000	0.50612	0.0:0.862:0.0:0.138	6.601	0.21897	870	0.31527	Domain of unknown function DUF2075	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.015152	0.1	2156.14	79	chr17	35265106	.	C	T	2156.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.94;DP=684;ExcessHet=0.2348;FS=2.68;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.123;SOR=0.935	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	8	0	2	0
chr17	35352996	35352996	C	G	exonic	SLFN11	.	nonsynonymous SNV	SLFN11:NM_152270:exon5:c.G2066C:p.R689P,SLFN11:NM_001104589:exon6:c.G2066C:p.R689P,SLFN11:NM_001376009:exon6:c.G2066C:p.R689P,SLFN11:NM_001376012:exon6:c.G2066C:p.R689P,SLFN11:NM_001104587:exon7:c.G2066C:p.R689P,SLFN11:NM_001104588:exon7:c.G2066C:p.R689P,SLFN11:NM_001104590:exon7:c.G2066C:p.R689P,SLFN11:NM_001376007:exon7:c.G2066C:p.R689P,SLFN11:NM_001376008:exon7:c.G2066C:p.R689P,SLFN11:NM_001376010:exon7:c.G2066C:p.R689P,SLFN11:NM_001376011:exon7:c.G2066C:p.R689P	.	424	1096	2	0	0	2	0.000911577	.	.	.	2303107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.404	0.055809062045	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs143096498	2.736e-06	2.736e-06	2.722e-06	2.75e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.037	0.51737	D	0.675	0.41275	P	0.233	0.38358	B	0.942034	0.08347	N	0.966630	1	0.08975	N	-0.095	0.04716	N	-2.15	0.86481	D	-0.97	0.25770	N	0.201	0.22228	-0.5384	0.67224	T	0.469	0.79556	T	10	0.09967837	0.18103	T	0.055809	0.66374	D	0.404	0.71714	0.405	0.43738	0.513958542087	0.51037	0.5450183379226223	0.54427	0.120465229798	0.13563	0.190756946802	0.00238	T	0.009903	0.08988	T	-0.00688759	0.50700	T	-0.24767	0.50046	T	0.263825403331929	0.23481	T	0.789521	0.42989	T	0.18247907	0.39469	0.11366887	0.27435	0.18247907	0.39469	0.11366887	0.27434	-8.844	0.66687	D	.	.	0.471	0.63239	A	.;.	.;.	1.762716	0.22423	15.61	0.94171017040918858	0.24384	0.01932	0.05890	N	AEFDGBI	0.083861	0.16991	N	-0.744785422412778	0.14776	0.7389001	-0.864993466354575	0.12927	0.6678356	0.00375994237891337	0.10266	0.706548	0.73137	0	0.659912	0.62753	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.0	1.48	0.21900	0.066000	0.14358	-0.356000	0.09709	-0.167000	0.11441	0.001000	0.13787	0.000000	0.08366	0.059000	0.15899	0.0:0.2286:0.0:0.7714	5.92	0.18314	556	0.71678	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1884.43	33	chr17	35352996	.	C	G	1884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.635;DP=513;ExcessHet=0;FS=0.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.763;SOR=0.749	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	9	0	1	0
chr17	35557684	35557684	G	A	exonic	SLFN14	.	nonsynonymous SNV	SLFN14:NM_001129820:exon3:c.C379T:p.R127C	Bleeding disorder, platelet-type, 20, Autosomal dominant	429	1088	3	2	0	7	0.0032066	.	.	.	2811247	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	0.0119967018024	.	0.000199681	0.0010	0	0	0	0	0.0002	0	0.0023	0.0001423	22	154602	rs538967367	0.0002	0.0002	0.0001	0.0003	0.0018	0.0002	0.0002	0.0016	0.0015	0.0001	5.602e-05	0.0003	2.798e-05	0	0.0016	7.971e-05	0.0003	0.0018	0.0002	0.0002	0.0001	0.0003	0.0021	0.0002	0.0001	0.0011	0.0009	0.0001	0	6.543e-05	0.0006	0	0	0	0.0002	0.0009	0.0021	0.139	0.25768	T	0.144	0.33109	T	0.999	0.77913	D	0.65	0.52463	P	.	.	.	.	0.931804	0.27037	N	1.185	0.30054	L	4.55	0.01948	T	-0.11	0.08653	N	0.17	0.18103	-0.9118	0.46632	T	0.008	0.02968	T	9	0.012767583	0.00273	T	0.011997	0.30173	T	0.112	0.31546	.	.	0.143124449307	0.13826	0.23289321474416186	0.23204	.	.	0.271049559116	0.06279	T	0.002943	0.02340	T	-0.51732	0.00456	T	-0.521419	0.20151	T	0.0325920100531602	0.02404	T	0.687731	0.29668	T	0.07225878	0.16062	0.05793418	0.10618	0.07225878	0.16061	0.05793418	0.10618	-4.288	0.28008	T	0.3942665817568963	0.48701	0.104	0.18869	B	.	.	1.237199	0.16323	12.47	0.9982183757158003	0.90502	0.08468	0.14393	N	AEFDGBI	0.144425	0.26738	N	-0.154862576057607	0.35027	2.00686	-0.247945800064437	0.29842	1.675253	0.973010093953133	0.29419	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.19	2.16	0.26663	0.230000	0.17632	1.434000	0.26471	0.676000	0.76740	0.001000	0.13787	0.901000	0.27973	0.966000	0.53164	0.1133:0.0:0.6666:0.2202	4.569	0.11595	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2140.43	116	chr17	35557684	.	G	A	2140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.18;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=1.45;SOR=0.671	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1188	9	0	1	0
chr17	35741231	35741231	G	A	exonic	RASL10B	.	nonsynonymous SNV	RASL10B:NM_033315:exon4:c.G538A:p.A180T	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.124679405887	0.0003	0.000798722	0.0006	0	0.0004	0	0	0.0008	0	0.0009	0.0004786	74	154602	rs147094602	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	0.0002	0.0007	0.0024	0	1.941e-05	0.0068	0.0002	0.0007	0.0009	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0003	4.808e-05	0	0.0007	0.0040	0.0002	0	0.0068	0.0003	0.0014	0.0008	.	.	.	0.477	0.12002	T	0.939	0.52645	P	0.16	0.34752	B	0.000015	0.62929	D	0.000000	0.761277	0.34041	D	0.75	0.19020	N	-2.13	0.86349	D	.	.	.	0.358	0.39962	-0.4750	0.69548	T	0.255	0.62485	T	10	0.024673253	0.00687	T	0.124679	0.80607	D	.	.	.	.	0.977120867506	0.97686	0.7982917059290335	0.79782	.	.	0.836708903313	0.87592	D	0.017295	0.14133	T	-0.193774	0.21707	T	-0.168948	0.57540	T	0.0571465865073061	0.06712	T	0.840916	0.51656	T	0.17744857	0.38712	0.21036054	0.45419	0.17744857	0.38711	0.21036054	0.45418	-3.618	0.18118	T	.	.	0.078	0.06849	B	.	.	4.310402	0.65883	24.9	0.99088182150852355	0.52149	0.97865	0.77711	D	AEFDBHCIJ	0.677059	0.64189	D	0.116022340172161	0.47209	2.949934	0.267899167531657	0.53674	3.535256	0.999999998161207	0.74766	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	5.39	4.36	0.51643	6.218000	0.72169	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0818:0.1576:0.7605:0.0	8.354	0.31482	632	0.64850	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003027	0.000000	0.004076	0.005848	0.000000	0.008621	0.003067	0.003788	0.05	1791.43	41	chr17	35741231	.	G	A	1791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.541;DP=477;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.53;SOR=0.962	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr17	35844353	35844353	C	T	exonic	TAF15	.	nonsynonymous SNV	TAF15:NM_003487:exon14:c.C1153T:p.R385C,TAF15:NM_139215:exon14:c.C1162T:p.R388C	Chondrosarcoma, extraskeletal myxoid	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.083714716858	.	.	0.0003	0	0	0	0.0015	0.0004	0	6.056e-05	0.0002264	35	154602	rs202180032	0.0001	0.0001	0.0001	0.0001	4.946e-05	0.0001	9.967e-05	3.89e-05	3.49e-05	0	0	0	0	0.0018	0	4.946e-05	0.0003	4.637e-05	7.882e-05	7.879e-05	7.706e-05	8.066e-05	2.939e-05	4.495e-05	3.511e-05	4.88e-06	1.83e-06	0	0	0	0	0	0.0009	0	2.939e-05	0	0	.	.	.	0.139	0.33666	T	0.999	0.90584	D	0.799	0.63994	P	.	.	.	.	0.999931	0.58761	D	0	0.06538	N	-3.36	0.94067	D	.	.	.	0.589	0.70702	-0.7879	0.55851	T	0.191	0.54359	T	8	0.110123634	0.20572	T	0.083715	0.74175	D	.	.	.	.	0.938711019541	0.93807	0.5883258589207646	0.58762	.	.	0.753074705601	0.74900	T	0.072067	0.34364	T	-0.0642251	0.42245	T	-0.0398883	0.67709	D	0.210913044835132	0.21001	T	0.958404	0.85375	D	0.10956164	0.25902	0.118368916	0.28572	0.10956164	0.25902	0.118368916	0.28571	-9.147	0.68638	D	.	.	0.498	0.69012	A	.;.;.	.;.;.	5.251863	0.88174	29.5	0.99930992202810442	0.99387	0.91687	0.54051	D	AEFBCI	0.736072	0.68169	D	0.398227578960902	0.61326	4.332176	0.39337451847631	0.61154	4.311831	0.00103652140789783	0.08148	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	4.13	0.47661	2.266000	0.42977	5.982000	0.52185	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.995000	0.73285	0.1794:0.7279:0.0:0.0927	6.486	0.21289	411	0.82069	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2616.43	39	chr17	35844353	.	C	T	2616.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.263;DP=533;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.53;SOR=0.735	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1265	9	0	1	0
chr17	36167617	36167617	C	G	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon12:c.G1008C:p.E336D,TBC1D3B:NM_001001417:exon13:c.G1008C:p.E336D,TBC1D3H:NM_001123392:exon13:c.G1008C:p.E336D,TBC1D3L:NM_001291459:exon13:c.G1008C:p.E336D,TBC1D3G:NM_001291462:exon13:c.G1008C:p.E336D,TBC1D3I:NM_001291463:exon13:c.G1008C:p.E336D,TBC1D3D:NM_001291465:exon13:c.G1008C:p.E336D	.	809	433	233	42	5	322	0.267963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0173503304639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381485068	0.0085	0.0082	0.0068	0.0100	0.0329	0.0083	0.0082	0.0315	0.0310	0.0002	0.0007	0.0018	0.0219	0.0117	0.0014	0.0041	0.0076	0.0329	0.0056	0.0056	0.0049	0.0064	0.0462	0.0053	0.0051	0.0399	0.0376	0.0002	0	0.0008	0.0033	0.0318	0.0138	0.0048	0.0049	0.0038	0.0462	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.000000	0.999999	0.08975	N	-2.35	0.00085	N	.	.	.	.	.	.	0.116	0.10483	-1.0270	0.21429	T	0.004	0.01295	T	8	0.0045027435	0.00093	T	0.01735	0.39013	T	.	.	0.513	0.61153	0.043077524339	0.03247	0.0392430690314691	0.03870	.	.	0.75837790966	0.75688	T	0.006884	0.06306	T	-0.338627	0.05484	T	-0.72419	0.04596	T	0.185262024402618	0.19561	T	0.509849	0.16238	T	0.3781015	0.59178	0.1925139	0.42769	0.3781015	0.59179	0.1925139	0.42768	1.368	0.00093	T	.	.	0.075	0.05491	B	.	.	-0.871200	0.00975	0.039	0.063579571095097626	0.00023	0.01005	0.03799	N	AEFI	0.018925	0.00613	N	-2.03155573819268	0.00181	0.007745146	-1.97578152611363	0.00344	0.01520704	1.11788979939101E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	.	.	.	-0.163000	0.09986	-12.892000	0.00493	-0.878000	0.02484	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	882	0.29131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	432.2	6	chr17	36167617	.	C	G	432.2	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.444;DP=62;ExcessHet=3.8694;FS=0;InbreedingCoeff=-0.4056;MLEAC=1;MLEAF=0.071;MQ=24.85;MQRankSum=0;QD=11.08;ReadPosRankSum=0.545;SOR=0.743	GT:AD:DP:GQ:PL	./.:1,0:1:0:0,0,0	6	0	1	3
chr17	36169108	36169108	G	T	exonic	TBC1D3B;TBC1D3D;TBC1D3G;TBC1D3H;TBC1D3I;TBC1D3L	.	nonsynonymous SNV	TBC1D3L:NM_001369500:exon9:c.C734A:p.T245K,TBC1D3B:NM_001001417:exon10:c.C734A:p.T245K,TBC1D3H:NM_001123392:exon10:c.C734A:p.T245K,TBC1D3L:NM_001291459:exon10:c.C734A:p.T245K,TBC1D3G:NM_001291462:exon10:c.C734A:p.T245K,TBC1D3I:NM_001291463:exon10:c.C734A:p.T245K,TBC1D3D:NM_001291465:exon10:c.C734A:p.T245K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00223829122394	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341441750	5.156e-05	0.0002	6.02e-05	4.283e-05	0.0015	4.212e-05	3.842e-05	0.0012	0.0011	0.0015	0.0003	0	0	0	0	1.806e-06	0.0001	0	0.0008	0.0019	0.0009	0.0007	0.0027	0.0007	0.0006	0.0023	0.0022	0.0027	0	0.0003	0	0	0	0	1.487e-05	0.0005	0	.	.	.	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.014565	0.28493	N	0.340991	1	0.08975	N	-0.295	0.03650	N	.	.	.	.	.	.	0.145	0.14622	-0.9569	0.39753	T	0.016	0.06616	T	8	0.039797902	0.02498	T	0.002238	0.04260	T	.	.	0.539	0.65018	0.043077524339	0.03247	0.07317375495320011	0.07254	.	.	0.532513141632	0.43388	T	0.004255	0.03660	T	-0.252567	0.13785	T	-0.600571	0.12763	T	0.0706595534918102	0.08744	T	0.422958	0.11265	T	0.07351493	0.16433	0.1230181	0.29668	0.07351493	0.16432	0.1230181	0.29667	-4.972	0.36534	T	.	.	0.119	0.24566	B	.	.	-0.806663	0.01094	0.049	0.14520117050848078	0.00323	0.00184	0.01074	N	AEFI	0.038277	0.05394	N	-1.5973938919797	0.01277	0.05560161	-1.61916961468425	0.01543	0.06990709	1.10996031817414E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	-0.139000	0.10338	-3.988000	0.02409	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	882	0.29131	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	334.43	52	chr17	36169108	.	G	T	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=542;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.94;MQRankSum=0.196;QD=1.61;ReadPosRankSum=-3.036;SOR=0.661	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1204	9	0	1	0
chr17	36988684	36988684	C	A	exonic	AATF	.	nonsynonymous SNV	AATF:NM_012138:exon6:c.C1113A:p.H371Q	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.017376144376	.	0.00139776	0.0009	0	0.0004	0	0	0.0003	0	0.0055	0.0008085	125	154602	rs199883001	0.0005	0.0005	0.0003	0.0006	0.0056	0.0004	0.0004	0.0052	0.0050	2.988e-05	0.0008	0.0001	0	0	0.0035	8.094e-05	0.0006	0.0056	0.0003	0.0003	0.0002	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	7.226e-05	0	0.0007	0	0	0	0	0.0002	0	0.0054	.	.	.	0.056	0.46632	T	0.988	0.62325	D	0.91	0.64641	D	0.000000	0.84330	D	0.088085	0.999081	0.46032	D	1.81	0.47622	L	.	.	.	.	.	.	0.664	0.67304	-0.4110	0.71679	T	0.337	0.70395	T	9	0.012243539	0.00264	T	0.017376	0.39055	T	.	.	0.527	0.63263	0.354183961838	0.35022	0.5019051262207574	0.50112	.	.	0.773067593575	0.77883	T	0.402609	0.75959	T	-0.306654	0.08047	T	-0.211206	0.53579	T	0.309795916080475	0.25406	T	.	.	.	0.2406422	0.46969	0.30584943	0.56611	0.2406422	0.46969	0.30584943	0.56610	-7.821	0.59844	D	.	.	0.548	0.66709	A	.;.	.;.	1.115106	0.15006	11.51	0.99350320753387367	0.60574	0.39822	0.26299	N	AEFGBI	0.413944	0.48341	N	-0.170891886586975	0.34351	1.95959	-0.33063334483056	0.27114	1.50234	0.0332286029977403	0.14095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-2.35	0.06302	-1.392000	0.02629	-10.192000	0.00729	-0.960000	0.01985	0.004000	0.16614	0.000000	0.08366	0.951000	0.49849	0.0:0.6396:0.0:0.3604	14.452	0.66971	614	0.66605	AATF leucine zipper-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.011450	0.05	3679.43	33	chr17	36988684	.	C	A	3679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.11;DP=630;ExcessHet=0;FS=1.344;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.48;SOR=0.642	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1176	9	0	1	0
chr17	37206805	37206805	G	A	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon30:c.C3641T:p.T1214M,ACACA:NM_198838:exon31:c.C3581T:p.T1194M,ACACA:NM_198834:exon32:c.C3926T:p.T1309M,ACACA:NM_198836:exon32:c.C3815T:p.T1272M,ACACA:NM_198839:exon36:c.C3815T:p.T1272M	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2209740	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00217178415445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-06	6.841e-06	5.451e-06	8.258e-06	9.003e-06	3.46e-06	2.53e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	9.003e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.50514	T	0.916	0.50672	P	0.562	0.49608	P	0.000022	0.55875	D	0.157552	0.997436	0.43885	D	1.5	0.37844	L	.	.	.	.	.	.	0.343	0.39760	-1.0047	0.28547	T	0.125	0.43028	T	10	0.24857852	0.42156	T	0.002172	0.04071	T	.	.	0.415	0.45380	0.143184338766	0.13958	0.3859482374907435	0.38509	.	.	0.397635906935	0.24740	T	0.332582	0.70253	T	-0.00681727	0.50710	T	-0.247569	0.50057	T	0.682951739826588	0.39923	D	.	.	.	0.09869309	0.23281	0.1373662	0.32835	0.09869309	0.23281	0.1373662	0.32834	-3.889	0.22137	T	.	.	0.084	0.11654	B	.;.;.;.	.;.;.;.	4.615397	0.73231	26.0	0.99467417255356561	0.66154	0.99304	0.94225	D	AEFBI	0.893906	0.83234	D	0.39055214749652	0.60910	4.28531	0.489664443828018	0.67302	5.066056	0.999999996708482	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	9.236000	0.94474	11.913000	0.99630	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.581000	0.30918	0.0:0.0:1.0:0.0	19.894	0.96941	657	0.62240	.;.;Acetyl-CoA carboxylase, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	447.43	34	chr17	37206805	.	G	A	447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.275;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.13;SOR=0.551	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,948	9	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:35,38:73:99:445,0,363	0	0	10	0
chr17	37701043	37701043	C	T	exonic	HNF1B	.	nonsynonymous SNV	HNF1B:NM_000458:exon7:c.G1474A:p.G492S,HNF1B:NM_001165923:exon7:c.G1396A:p.G466S	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Renal cysts and diabetes syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	344277	Nonpapillary_renal_cell_carcinoma|Renal_cysts_and_diabetes_syndrome|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0007763,MedGen:CN074294,OMIM:144700,Orphanet:422526|MONDO:MONDO:0007669,MedGen:C0431693,OMIM:137920,Orphanet:93111|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.426	.	0.0003	0.00159744	0.0009	0	0	0	0.125	0.0008	0	0	0.0007956	123	154602	rs187556368	0.0010	0.0010	0.0010	0.0010	0.0001	0.0009	0.0009	0.0001	9.51e-05	0	0	0	0	0.0245	0	0.0001	0.0009	0	0.0020	0.0020	0.0013	0.0027	0.0007	0.0018	0.0017	0.0005	0.0005	0	0	0	0	0	0.0239	0	0.0007	0.0009	0	.	.	.	0.122	0.41239	T	0.014	0.16867	B	0.029	0.21540	B	0.001407	0.39109	N	0.203938	0.934406	0.81001	D	0.55	0.14455	N	.	.	.	.	.	.	0.342	0.39457	0.713	0.93338	D	0.859	0.95295	D	10	0.006783843	0.00154	T	.	.	.	.	.	.	.	0.729183891889	0.72678	0.33917793479266456	0.33830	.	.	0.459092408419	0.33186	T	0.532887	0.83867	D	-0.37163	0.03512	T	-0.311213	0.43527	T	0.0854101041102221	0.10664	T	.	.	.	0.10175398	0.24039	0.19563799	0.43252	0.107579514	0.25437	0.22053106	0.46830	-2.666	0.07022	T	.	.	0.065	0.05103	B	.;.;.	.;.;.	2.549916	0.32999	19.21	0.99047298637044889	0.51162	0.83455	0.42571	D	AEFDGBIJ	0.363448	0.45234	N	-0.290864577129937	0.29500	1.636493	-0.0970043909384359	0.35514	2.055537	0.999994985098757	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.67	4.7	0.58776	1.666000	0.37076	1.409000	0.26264	0.599000	0.40250	0.913000	0.31760	0.880000	0.27694	0.982000	0.59238	0.0:0.9185:0.0:0.0815	12.331	0.54362	0	0.99858	Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal;Hepatocyte nuclear factor 1, beta isoform, C-terminal	.	.	.	.	rs187556368	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2327.43	35	chr17	37701043	.	C	T	2327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=480;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=1.29;SOR=0.579	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	9	0	1	0
chr17	38329040	38329040	C	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G4529A:p.R1510K	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000873884592495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	0.068212	0.21688	N	0.339703	0.999989	0.18198	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-1.0058	0.28216	T	0.124	0.42736	T	10	0.060441643	0.07423	T	8.74E-4	0.00777	T	.	.	0.242	0.17524	0.130388298395	0.12655	0.15757418050019867	0.15678	.	.	0.219104394317	0.01259	T	.	.	.	-0.302428	0.08432	T	-0.672194	0.07467	T	0.0656085908412933	0.08021	T	0.320768	0.06490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.21428	B	.;.	.;.	1.716472	0.21855	15.38	0.95270065883130983	0.26551	0.06583	0.12597	N	AEFDGBI	.	.	.	-0.859612155863479	0.11814	0.5722405	-0.847178034641282	0.13356	0.6923798	0.995088107820583	0.33945	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.51	2.45	0.28953	0.114000	0.15353	0.321000	0.17185	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.504000	0.29107	0.0:0.7872:0.0:0.2128	7.597	0.27224	123	0.95099	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	9305.43	33	chr17	38329040	.	C	T	9305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=1243;ExcessHet=0;FS=1.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.12;SOR=0.792	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1226	9	0	1	0
chr17	38330115	38330115	A	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.T3454C:p.S1152P	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	0	1505	15	2	0	19	0.0062727	.	.	.	374952	Congenital_stationary_night_blindness_1E|not_specified|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0071	0.00339457	0.0067	0.0019	0.0070	0	0.0033	0.0092	0.0080	0.0032	0.0068175	1054	154602	rs149252987	0.0093	0.0092	0.0095	0.0090	0.0108	0.0091	0.0091	0.0107	0.0106	0.0016	0.0062	0.0047	0	0.0050	0.0044	0.0108	0.0080	0.0032	0.0068	0.0067	0.0075	0.0060	0.0102	0.0064	0.0063	0.0096	0.0093	0.0022	0.0637	0.0062	0.0049	0	0.0040	0.0068	0.0102	0.0071	0.0025	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	0.001369	0.39242	N	0.117170	0.974477	0.25489	N	.	.	.	.	.	.	.	.	.	0.525	0.55453	-0.9590	0.39368	T	0.119	0.41626	T	10	0.005481094	0.00121	T	.	.	.	.	.	.	.	0.370608029945	0.36667	0.20258049630973457	0.20175	.	.	0.417994588614	0.27562	T	.	.	.	-0.324274	0.06553	T	-0.22625	0.52134	T	0.0142897565111187	0.00284	T	0.630437	0.24556	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.47338	B	.;.	.;.	3.573630	0.50344	22.9	0.99849158347106404	0.92838	0.28655	0.23613	N	AEFGBI	.	.	.	-0.0313918016067256	0.40438	2.40142	-0.0820273658342813	0.36133	2.098979	0.996471172121511	0.34770	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	4.18	0.48473	1.304000	0.33087	3.826000	0.39973	0.756000	0.94297	0.835000	0.30208	0.998000	0.33993	0.792000	0.37394	0.8425:0.0:0.0:0.1575	9.491	0.38121	125	0.94984	.;.	.	.	.	.	rs149252987	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.010870	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	9195.14	370	chr17	38330115	.	A	G	9195.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.13;DP=1883;ExcessHet=0.2348;FS=1.117;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.609;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,178:341:99:0|1:38330115_A_G:4903,0,4155:38330115	8	0	2	0
chr17	38330673	38330673	G	C	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.C2896G:p.P966A	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00381030949237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	0.002555	0.36353	N	0.193137	0.999934	0.19363	N	.	.	.	.	.	.	.	.	.	0.251	0.28381	-0.9818	0.34585	T	0.091	0.34792	T	10	0.08269641	0.13678	T	0.00381	0.08899	T	.	.	0.276	0.22845	0.0297737177859	0.01360	0.28297629126376866	0.28210	.	.	0.402156144381	0.25369	T	.	.	.	-0.116101	0.33764	T	-0.404548	0.32855	T	0.275387406349182	0.23977	T	0.582942	0.22396	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.19919	B	.;.	.;.	1.090247	0.14740	11.28	0.82111547911609106	0.14024	0.15139	0.18763	N	AEFDBI	.	.	.	-0.868956875188118	0.11586	0.559946	-0.907134807790512	0.11926	0.6105168	0.99716723041476	0.35335	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.56	3.58	0.40133	0.835000	0.27184	3.101000	0.36319	-0.120000	0.14102	0.024000	0.20007	0.999000	0.35428	0.471000	0.28363	0.0:0.0:0.8222:0.1778	11.665	0.50632	131	0.94738	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2062.43	113	chr17	38330673	.	G	C	2062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.012;DP=755;ExcessHet=0;FS=0.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-2.728;SOR=0.78	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	9	0	1	0
chr17	38336989	38336989	G	A	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon4:c.C1216T:p.R406C	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1954525	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.665	0.0516641453363	7.8e-05	.	1.975e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs373472248	2.906e-05	3.147e-05	2.196e-05	3.626e-05	0.0002	2.176e-05	1.929e-05	0.0001	8.923e-05	8.998e-05	0	0	2.554e-05	0	0	1.9e-05	3.349e-05	0.0002	2.628e-05	2.627e-05	2.569e-05	2.689e-05	7.237e-05	8.14e-06	5.14e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.161648	0.03043	N	1.770990	0.995438	0.42690	D	.	.	.	.	.	.	.	.	.	0.739	0.75466	0.309	0.87697	D	0.887	0.96255	D	10	0.8367908	0.82834	D	0.051664	0.64754	D	.	.	.	.	0.0611884634855	0.05136	0.7081281024591405	0.70754	.	.	0.380175739527	0.22281	T	.	.	.	0.200723	0.73959	D	0.050548	0.73620	D	0.743758499622345	0.42941	D	0.950005	0.80823	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.39613	B	.;.	.;.	5.253152	0.88202	29.5	0.9994115828525818	0.99797	0.98127	0.79829	D	AEFDBI	0.768506	0.70405	D	0.782134840439042	0.84977	8.44077	0.71557436733805	0.83562	8.054157	0.999596225544463	0.40745	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.19	5.19	0.71428	4.387000	0.59391	8.650000	0.77929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0:0.0:0.8402:0.1598	13.220	0.59305	165	0.93588	GPCR family 3, C-terminal|GPCR family 3, C-terminal;GPCR family 3, C-terminal|GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	438.43	36	chr17	38336989	.	G	A	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=345;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=-0.441;SOR=0.622	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1001	9	0	1	0
chr17	38462936	38462936	G	A	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon4:c.G344A:p.R115H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00784354602263	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455090989	1.654e-05	1.642e-05	1.135e-05	2.186e-05	0.0001	1.101e-05	9.2e-06	7.874e-05	6.129e-05	0	0	0	2.801e-05	0	0	1.022e-05	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.67890	D	0.529	0.37682	P	0.067	0.27542	B	.	.	.	.	0.648025	0.30558	N	1.445	0.36358	L	.	.	.	.	.	.	0.255	0.28849	-0.8317	0.53191	T	0.141	0.46128	T	9	0.5454372	0.63957	D	0.007844	0.20798	T	.	.	0.643	0.78010	0.462549850287	0.45878	0.32427050079440967	0.32340	.	.	0.512073993683	0.40513	T	0.008205	0.07549	T	0.0318905	0.55974	T	-0.191968	0.55405	T	0.916035830974579	0.57330	D	.	.	.	0.13793911	0.31919	0.23271307	0.48439	0.13793911	0.31919	0.23271307	0.48438	-8.027	0.61254	D	.	.	0.100	0.19919	B	.;.;.	.;.;.	3.966309	0.58211	24.0	0.9964735592188364	0.77068	0.88565	0.48552	D	AEFBCI	0.635736	0.61514	D	0.232493055475137	0.52779	3.450044	0.340416913961227	0.57932	3.961051	0.999999973051081	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.17	4.19	0.48645	6.227000	0.72232	8.393000	0.77090	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0927:0.0:0.9073:0.0	10.724	0.45258	113	0.95418	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	888.43	34	chr17	38462936	.	G	A	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.371;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.45;SOR=0.69	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1222	9	0	1	0
chr17	38469152	38469152	A	G	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon8:c.A1657G:p.T553A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0123851668235	0.0009	0.00259585	0.0005	0.0046	0	0	0	0	0	0	0.000207	32	154602	rs189596069	0.0002	0.0002	0.0002	0.0001	0.0058	0.0001	0.0001	0.0051	0.0048	0.0058	0.0004	0	0	0	0.0009	2.783e-06	0.0005	0	0.0017	0.0017	0.0020	0.0015	0.0049	0.0016	0.0015	0.0044	0.0042	0.0049	0.0518	0.0007	0	0	0	0	1.471e-05	0.0014	0	.	.	.	0.114	0.37730	T	0.402	0.56408	B	0.235	0.52082	B	0.000000	0.84330	D	0.000000	0.866338	0.28277	N	1.745	0.45235	L	.	.	.	.	.	.	0.406	0.44666	-0.9314	0.43933	T	0.122	0.42378	T	10	0.0069832206	0.00159	T	0.012385	0.30901	T	.	.	.	.	0.456647468687	0.45291	0.5064968435549617	0.50571	.	.	0.643194198608	0.59019	T	0.014354	0.12236	T	-0.381936	0.03030	T	-0.320586	0.42509	T	0.0848501186408163	0.10596	T	.	.	.	0.3752084	0.58967	0.297	0.55753	0.3752084	0.58967	0.297	0.55752	-6.35	0.51000	T	.	.	0.172	0.40229	B	.;.	.;.	4.092258	0.60950	24.3	0.98017305303329516	0.37605	0.98382	0.82208	D	AEFBI	0.649774	0.62412	D	0.145383799155967	0.48592	3.069726	0.163976985687948	0.47887	3.012293	0.999963287843706	0.48965	0.722319	0.85440	0	0.588066	0.40923	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	3.99	2.87	0.32523	6.917000	0.75604	11.212000	0.89433	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8207:0.1793:0.0:0.0	9.458	0.37931	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1466.43	33	chr17	38469152	.	A	G	1466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.845;DP=477;ExcessHet=0;FS=2.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=-1.992;SOR=0.888	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1439	9	0	1	0
chr17	38479767	38479767	C	T	exonic	ARHGAP23	.	nonsynonymous SNV	ARHGAP23:NM_001199417:exon14:c.C2513T:p.P838L	.	402	898	221	1	0	223	0.110451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00849835012686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179139464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.43531	T	0.288	0.36312	B	0.122	0.33328	B	0.007798	0.31194	N	0.339007	0.999976	0.54805	D	1.39	0.34934	L	.	.	.	.	.	.	0.135	0.13198	-1.0637	0.10855	T	0.029	0.12585	T	10	0.114997685	0.21652	T	0.008498	0.22482	T	.	.	.	.	0.548654159409	0.54520	0.28172159854278217	0.28085	.	.	0.641096115112	0.58720	T	0.005151	0.04592	T	-0.0195816	0.48914	T	-0.265904	0.48233	T	0.528647541999817	0.33684	D	.	.	.	0.1456844	0.33383	0.13910079	0.33200	0.1456844	0.33383	0.13910079	0.33199	-9.479	0.70728	D	.	.	0.062	0.08176	B	.;.	.;.	4.028711	0.59562	24.1	0.98714625169202608	0.45113	0.96355	0.68733	D	AEFBI	0.398704	0.47428	N	0.0482024911508484	0.44059	2.686984	0.198608916344503	0.49770	3.17639	0.838475277280199	0.24822	0.67177	0.52595	0	0.588066	0.40923	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.88	4.88	0.63131	1.707000	0.37507	4.883000	0.45686	0.598000	0.34611	0.428000	0.26393	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.409	0.60378	127	0.94899	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	94.43	34	chr17	38479767	.	C	T	94.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.606;DP=430;ExcessHet=0.7463;FS=0.774;InbreedingCoeff=-0.1759;MLEAC=3;MLEAF=0.15;MQ=49.15;MQRankSum=-2.443;QD=0.63;ReadPosRankSum=-1.268;SOR=0.781	GT:AD:DP:GQ:PL	0/1:42,6:48:21:21,0,1038	7	0	3	0
chr17	38673379	38673379	C	A	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.G1117T:p.G373W	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0439047214354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.453e-06	1.368e-06	1.433e-06	1.474e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.755e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.30828	T	0.061	0.23190	B	0.045	0.24526	B	.	.	.	.	0.953309	0.26409	N	.	.	.	.	.	.	.	.	.	0.228	0.25622	-1.0285	0.20940	T	0.043	0.18576	T	8	0.0779323	0.12359	T	0.043905	0.61221	D	.	.	0.358	0.36060	0.298403945805	0.29456	0.06849474303153294	0.06787	.	.	.	.	.	0.008645	0.07927	T	-0.163652	0.26199	T	-0.472851	0.25209	T	0.57660037279129	0.35487	D	.	.	.	0.07489867	0.16839	0.11364822	0.27430	0.07489867	0.16838	0.11364822	0.27429	-5.069	0.37579	T	.	.	0.271	0.50481	B	.	.	2.931488	0.38943	20.9	0.93378066088259004	0.23125	0.71730	0.35140	D	AEFDBI	0.333682	0.43269	N	-0.456720031843281	0.23513	1.263197	-0.313873458849024	0.27649	1.535783	0.99820445499228	0.36574	0.608746	0.35421	0	0.627608	0.54475	0	0.619478	0.44681	0	0.620976	0.48614	0	.	.	4.19	2.12	0.26372	2.420000	0.44334	4.161000	0.42211	0.577000	0.29297	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.2177:0.5599:0.0:0.2224	3.276	0.06494	538	0.73119	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1443.14	65	chr17	38673379	.	C	A	1443.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.088;DP=437;ExcessHet=0.2348;FS=3.171;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=1.43;SOR=0.474	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1152	8	0	2	0
chr17	38730405	38730405	G	C	exonic	CISD3	.	nonsynonymous SNV	CISD3:NM_001136498:exon1:c.G47C:p.R16P	.	487	1033	2	0	0	2	0.000967118	0.0010	0.008	.	2376341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00713989975982	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs535247574	0.0001	0.0002	0.0001	0.0002	0.0046	0.0001	0.0001	0.0038	0.0036	0	0	0	0	0	0.0014	1.538e-05	0.0007	0.0046	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	2.955e-05	0	0.0054	.	.	.	0.154	0.32040	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.139	0.13769	-1.0286	0.20908	T	0.053	0.22423	T	8	0.010851592	0.00240	T	0.00714	0.18924	T	.	.	0.29	0.25081	0.0986583533028	0.09354	0.3821550060478252	0.38130	.	.	0.478506267071	0.35851	T	8.14E-4	0.00397	T	-0.193561	0.21737	T	-0.515814	0.20720	T	0.0583147226554417	0.06900	T	.	.	.	0.5977935	0.72572	0.5850668	0.75939	0.5977935	0.72574	0.5850668	0.75940	-3.743	0.19955	T	.	.	0.103	0.18331	B	.	.	1.452964	0.18743	13.90	0.74136522411661965	0.10583	0.18169	0.20148	N	AEFGBHCIJ	0.560662	0.56897	D	-0.978848937648243	0.09056	0.4270533	-0.976253448642809	0.10320	0.51902	0.999999999597128	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	3.16	1.03	0.19161	0.868000	0.27635	0.935000	0.22809	0.505000	0.23025	0.522000	0.27127	0.001000	0.17328	0.004000	0.06068	0.0:0.0:0.5554:0.4446	7.888	0.28824	572	0.70300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	239.43	9	chr17	38730405	.	G	C	239.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.443;DP=133;ExcessHet=0;FS=0;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.87;SOR=0.76	GT:AD:DP:GQ:PL	0/0:12,0:12:36:0,36,313	9	0	1	0
chr17	38815020	38815020	C	T	exonic	CWC25	.	nonsynonymous SNV	CWC25:NM_017748:exon3:c.G269A:p.R90H	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.815	0.0334707954884	0.0002	0.00119808	0.0008	0	0	0	0	0.0002	0.0045	0.0047	0.0006662	103	154602	rs367958160	0.0004	0.0004	0.0002	0.0005	0.0040	0.0003	0.0003	0.0036	0.0035	2.987e-05	0	0.0036	0	0	0.0014	3.148e-05	0.0008	0.0040	0.0003	0.0003	0.0002	0.0004	0.0058	0.0002	0.0002	0.0041	0.0036	0	0	0	0.0029	0	0	0	5.88e-05	0	0.0058	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.295	0.90403	M	.	.	.	.	.	.	0.756	0.75466	0.212	0.86106	D	0.547	0.83355	D	9	0.023109585	0.00595	T	0.033471	0.55002	D	.	.	.	.	0.303123707472	0.29912	0.44555854255413524	0.44473	.	.	0.787967562675	0.80133	T	0.43944	0.78472	T	0.0859512	0.62729	D	0.350679	0.90344	D	0.203501668811681	0.20608	T	.	.	.	0.37894207	0.59240	0.21164481	0.45602	0.37894207	0.59240	0.21164481	0.45601	-9.604	0.71504	D	.	.	0.564	0.67373	A	.	.	5.447341	0.91008	32	0.99944881881089009	0.99886	0.98235	0.80793	D	AEFBI	0.844415	0.76137	D	0.871510836441692	0.90297	10.34	0.822440564828272	0.91307	10.822	0.99999999747369	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.141000	0.76920	7.405000	0.58601	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.577	0.87850	354	0.85282	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	936.43	41	chr17	38815020	.	C	T	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.613;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.847;SOR=0.794	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,872	9	0	1	0
chr17	39156923	39156923	A	G	exonic	ARL5C	.	nonsynonymous SNV	ARL5C:NM_001143968:exon6:c.T511C:p.W171R	.	404	1111	7	0	0	7	0.00314042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	.	.	0.0155751	0.0120	0	0.0025	0.0416	0	0.0008	0.0105	0.0248	0.0025873	400	154602	rs151045610	0.0024	0.0024	0.0018	0.0032	0.0271	0.0024	0.0024	0.0261	0.0257	6.33e-05	0.0001	0.0025	0.0199	0.0001	0.0007	0.0002	0.0054	0.0271	0.0025	0.0025	0.0017	0.0032	0.0368	0.0022	0.0022	0.0325	0.0309	0	0	0.0003	0.0032	0.0368	0	0	5.879e-05	0.0028	0.0328	0.0	0.91255	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999999	0.58761	D	3.895	0.96086	H	-0.19	0.65931	T	-11.5	0.99458	D	0.811	0.80669	-0.2759	0.75652	T	0.281	0.65250	T	9	0.009276509	0.00210	T	.	.	.	0.494	0.77973	0.8	0.91946	0.578293158758	0.57498	0.6106227060727205	0.60994	.	.	0.531472206116	0.43242	T	0.084791	0.37357	T	-0.163264	0.26259	T	0.0234058	0.71851	D	0.225259914569435	0.21723	T	0.381062	0.09207	T	0.7987345	0.83824	0.782999	0.87212	0.7987345	0.83826	0.782999	0.87213	-8.961	0.67446	D	.	.	0.406	0.59926	A	.	.	3.390896	0.46947	22.4	0.98497077244871911	0.42168	0.84970	0.44068	D	AEFDGBHCI	0.581414	0.58144	D	0.459382545358097	0.64738	4.735151	0.304210723935352	0.55787	3.741498	0.999999713578967	0.74766	0.525926	0.21836	0	0.547309	0.14657	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	3.81	3.81	0.43020	3.750000	0.54874	3.670000	0.39434	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.196000	0.21779	1.0:0.0:0.0:0.0	8.976	0.35098	599	0.68140	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005219	0.000000	0.000000	0.008264	0.000000	0.026316	0.010638	0.000000	0.05	926.43	40	chr17	39156923	.	A	G	926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.23;DP=433;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0.193;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1089	9	0	1	0
chr17	39687891	39687891	A	C	exonic	PGAP3	.	nonsynonymous SNV	PGAP3:NM_001291726:exon1:c.T124G:p.S42A,PGAP3:NM_001291728:exon1:c.T124G:p.S42A,PGAP3:NM_001291730:exon1:c.T124G:p.S42A,PGAP3:NM_001291732:exon1:c.T124G:p.S42A,PGAP3:NM_001291733:exon1:c.T124G:p.S42A,PGAP3:NM_033419:exon1:c.T124G:p.S42A	Hyperphosphatasia with mental retardation syndrome 4, Autosomal recessive	411	1110	1	0	0	1	0.000450248	.	.	.	1780462	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.128	0.0126094751495	0.0005	.	0.0010	0.0003	0.0023	0	0	0.0016	0	0.0002	0.0004269	66	154602	rs150801318	0.0005	0.0005	0.0005	0.0006	0.0016	0.0005	0.0005	0.0008	0.0006	6.669e-05	0.0004	0.0016	0	1.996e-05	0.0016	0.0006	0.0008	0.0002	0.0005	0.0005	0.0006	0.0005	0.0013	0.0005	0.0004	0.0009	0.0007	0.0001	0	0.0013	0.0014	0	0	0	0.0007	0.0010	0	0.019	0.50132	D	0.135	0.45318	T	0.75	0.45105	P	0.253	0.42281	B	0.000009	0.62929	D	0.063063	0.999382	0.46865	D	1.75	0.45442	L	.	.	.	-1.25	0.33598	N	0.428	0.50146	-1.0431	0.16383	T	0.103	0.37894	T	9	0.036887646	0.02011	T	0.012609	0.31334	T	0.128	0.35103	.	.	0.499535901811	0.49588	0.490865920719108	0.49006	0.474333792737	0.46621	0.478932708502	0.35910	T	0.022143	0.28131	T	-0.323259	0.06635	T	-0.320147	0.42559	T	0.0512097908025927	0.05712	T	0.80202	0.44827	T	0.16546147	0.36820	0.1788963	0.40589	0.16546147	0.36819	0.1788963	0.40588	-6.695	0.54681	T	0.2353842327551329	0.31872	0.144	0.31808	B	.;.;.;.	.;.;.;.	4.183893	0.63012	24.5	0.98597735042972678	0.43467	0.90671	0.52042	D	ALL	0.719857	0.67061	D	0.0924645233479363	0.46111	2.856667	0.195459393077193	0.49598	3.161037	0.999999999999996	0.74766	0.468429	0.09910	2	0.484254	0.07192	0	0.504199	0.09095	0	0.003489	0.00041	3	.	.	4.68	4.68	0.58319	5.603000	0.67304	9.323000	0.80062	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8311:0.0:0.0:0.1689	8.764	0.33851	562	0.71143	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002047	0.005435	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	688.43	34	chr17	39687891	.	A	C	688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.5;DP=371;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.336;SOR=0.976	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,992	9	0	1	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V,IKZF3:NM_001257411:exon3:c.C71T:p.A24V,IKZF3:NM_001257412:exon3:c.C71T:p.A24V,IKZF3:NM_001257413:exon3:c.C71T:p.A24V,IKZF3:NM_001257414:exon3:c.C71T:p.A24V,IKZF3:NM_012481:exon3:c.C71T:p.A24V,IKZF3:NM_183228:exon3:c.C71T:p.A24V,IKZF3:NM_183229:exon3:c.C71T:p.A24V,IKZF3:NM_183230:exon3:c.C71T:p.A24V,IKZF3:NM_183231:exon3:c.C71T:p.A24V,IKZF3:NM_183232:exon3:c.C71T:p.A24V	.	426	1085	10	1	0	12	0.00549954	.	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	662	0.61715	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.15	2782.45	34	chr17	39829479	.	G	A	2782.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.06;DP=483;ExcessHet=0.7463;FS=0.48;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.646;SOR=0.736	GT:AD:DP:GQ:PL	0/1:34,36:70:99:938,0,700	7	0	3	0
chr17	40016804	40016804	C	A	exonic	CSF3	.	nonsynonymous SNV	CSF3:NM_001178147:exon4:c.C352A:p.L118M,CSF3:NM_172220:exon4:c.C361A:p.L121M,CSF3:NM_000759:exon5:c.C469A:p.L157M,CSF3:NM_172219:exon5:c.C460A:p.L154M	.	.	.	.	.	.	.	.	.	.	.	727142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0098	0.00798722	0.0025	0.0279	0.0007	0	0	0	0.0011	0	0.0023415	362	154602	rs2227329	0.0009	0.0009	0.0010	0.0007	0.0330	0.0009	0.0008	0.0313	0.0307	0.0330	0.0011	0	0	0	0.0006	1.169e-05	0.0022	6.961e-05	0.0091	0.0091	0.0094	0.0087	0.0316	0.0087	0.0085	0.0302	0.0296	0.0316	0	0.0027	0	0	0	0	0.0001	0.0080	0	0.055	0.38863	T	0.0	0.92824	D	0.073	0.24078	B	0.163	0.34892	B	0.026356	0.25934	N	0.399663	0.900292	0.27713	N	1.485	0.37223	L	2.02	0.21119	T	-0.8	0.26843	N	0.162	0.24010	-1.1157	0.02622	T	0.011	0.04088	T	10	0.0034287274	0.00060	T	.	.	.	0.043	0.11576	.	.	0.619908932184	0.61682	0.14178106242043612	0.14101	0.596275416256	0.54875	0.348687827587	0.17729	T	0.380781	0.74325	T	-0.626054	0.00101	T	-0.646992	0.09166	T	0.0238574989743168	0.01126	T	0.582242	0.21111	T	0.306149	0.53450	0.22339682	0.47216	0.306149	0.53450	0.22339682	0.47215	-5.009	0.36959	T	.	.	0.110	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.307790	0.17102	12.96	0.98530204870228855	0.42582	0.30482	0.24093	N	AEFDBHI	0.142439	0.26488	N	-0.269985044914432	0.30312	1.689049	-0.252643903601493	0.29680	1.664822	0.999990217703408	0.74766	0.538715	0.22204	0	0.514364	0.08380	0	0.576033	0.28219	0	0.563494	0.21769	0	.	.	5.29	3.27	0.36580	0.132000	0.15716	-0.090000	0.12069	0.599000	0.40250	0.112000	0.23030	0.000000	0.08366	0.413000	0.27073	0.1577:0.6908:0.1516:0.0	9.828	0.40093	173	0.93306	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	489.43	34	chr17	40016804	.	C	A	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.044;DP=335;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.699;SOR=0.439	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,930	9	0	1	0
chr17	40164128	40164128	C	T	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon7:c.C1433T:p.P478L	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0078371103663	0.0005	0.000798722	0.0009	0.0006	0.0018	0	0	0.0009	0.0046	0.0008	0.0008926	138	154602	rs140375987	0.0009	0.0009	0.0008	0.0009	0.0401	0.0009	0.0008	0.0359	0.0342	0.0013	0.0027	0.0011	2.52e-05	5.827e-05	0.0401	0.0006	0.0022	0.0009	0.0009	0.0009	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0007	0	0.0023	0.0009	0	0	0.0340	0.0007	0.0066	0.0006	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.493	0.47443	P	0.000416	0.44736	D	0.235442	0.999998	0.58761	D	1.67	0.42885	L	.	.	.	-0.66	0.19085	N	0.578	0.59986	-1.0268	0.21494	T	0.084	0.32729	T	9	0.019713819	0.00444	T	0.007837	0.20798	T	0.087	0.25287	.	.	0.232442253697	0.22838	0.2393387749667822	0.23847	0.579947014083	0.53851	0.479171782732	0.35943	T	0.03977	0.25301	T	-0.335218	0.05727	T	-0.259532	0.48871	T	0.0274194980544052	0.01605	T	0.925507	0.72634	D	0.11321392	0.26741	0.06890204	0.14448	0.11321392	0.26741	0.06890204	0.14447	-5.211	0.39054	T	.	.	0.098	0.16143	B	.	.	4.526741	0.71028	25.6	0.92941958910010425	0.22511	0.90570	0.51856	D	AEFBI	0.303224	0.41125	N	0.252908875417437	0.53783	3.545777	0.348133233150198	0.58395	4.009777	0.18512621597521	0.17926	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	2.543000	0.45411	5.912000	0.51036	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.976000	0.56436	0.1511:0.8489:0.0:0.0	14.083	0.64465	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.031250	0.105263	0.000000	0.025862	0.006098	0.000000	0.05	573.43	37	chr17	40164128	.	C	T	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=355;ExcessHet=0;FS=5.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.455;SOR=1.657	GT:AD:DP:GQ:PL	0/1:17,21:38:99:585,0,327	9	0	1	0
chr17	40488765	40488765	A	G	exonic	TNS4	.	nonsynonymous SNV	TNS4:NM_032865:exon3:c.T644C:p.L215P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00336882342393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.06e-06	2.052e-06	2.733e-06	1.379e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.326e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.268	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	0.436706	0.04736	N	1.430440	1	0.08975	N	-0.35	0.03145	N	2.17	0.19020	T	1.35	0.00889	N	0.085	0.06190	-1.0042	0.28696	T	0.020	0.08220	T	10	0.034911454	0.01718	T	0.003369	0.07542	T	0.011	0.01250	0.287	0.24601	0.461671691612	0.45793	0.2362660991311221	0.23541	0.242659857926	0.26772	0.261921882629	0.05122	T	0.004079	0.03492	T	-0.375206	0.03339	T	-0.776734	0.02554	T	0.128420203924179	0.15235	T	0.294771	0.05441	T	0.06858626	0.14955	0.07107496	0.15175	0.06858626	0.14955	0.07107496	0.15175	-3.514	0.16628	T	.	.	0.051	0.00165	B	.	.	0.893459	0.12673	9.194	0.31723587526982056	0.01802	0.00900	0.03527	N	AEFDGBCI	0.022167	0.01074	N	-1.42034775592595	0.02460	0.1086681	-1.3989464464439	0.03263	0.1518801	0.99999976078282	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.97	-1.35	0.08638	0.061000	0.14242	0.489000	0.18882	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.3225:0.0:0.5433:0.1342	4.773	0.12537	267	0.89517	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	849.43	35	chr17	40488765	.	A	G	849.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.557;DP=428;ExcessHet=0;FS=3.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.41;SOR=1.143	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1226	9	0	1	0
chr17	40699553	40699553	A	G	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon6:c.T1252C:p.W418R	.	418	1094	10	0	0	10	0.00454959	.	.	.	727155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.164	.	0.0091	0.00898562	0.0028	0.0273	0.0026	0	0	0.0004	0.0022	0.0001	0.0027296	422	154602	rs12946793	0.0012	0.0012	0.0013	0.0011	0.0334	0.0012	0.0011	0.0318	0.0311	0.0334	0.0031	0.0003	0	1.872e-05	0.0087	0.0002	0.0030	0.0001	0.0082	0.0082	0.0089	0.0075	0.0272	0.0078	0.0077	0.0259	0.0254	0.0272	0	0.0043	0.0003	0	0	0.0102	0.0005	0.0066	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999664	0.20745	N	-3.99	0.00000	N	-1.93	0.84842	D	6.93	0.00004	N	0.195	0.21449	-0.9024	0.47739	T	0.030	0.12892	T	9	0.0017380416	0.00022	T	.	.	.	0.164	0.42212	0.181	0.08877	0.132336055621	0.12781	0.4804221334345486	0.47962	0.111132996627	0.12538	0.315614581108	0.12756	T	0.097879	0.40115	T	-0.537873	0.00345	T	-0.523764	0.19914	T	0.00414675097483597	0.00044	T	0.117088	0.00899	T	0.066874	0.14429	0.088373005	0.20601	0.066874	0.14429	0.088373005	0.20600	6.925	0.00000	T	.	.	0.060	0.00995	B	.	.	0.456606	0.08265	5.008	0.53006960591460439	0.04856	0.09217	0.15017	N	AEFDBHCI	0.054180	0.09827	N	-1.48263275615263	0.01972	0.08661578	-1.24140405579668	0.05259	0.2501718	0.982890725190149	0.30472	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	2.16	0.26663	-0.696000	0.05205	2.427000	0.32714	-0.161000	0.11593	0.000000	0.06391	0.991000	0.31484	0.402000	0.26827	0.141:0.0:0.5628:0.2962	8.554	0.32630	88	0.96322	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.020202	0.025815	0.017544	0.000000	0.008621	0.006098	0.003788	0.05	2023.43	35	chr17	40699553	.	A	G	2023.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.366;DP=529;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=0.268;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,99,1485:.	9	0	1	0
chr17	40699561	40699561	C	T	exonic	KRT24	.	nonsynonymous SNV	KRT24:NM_019016:exon6:c.G1244A:p.C415Y	.	.	.	.	.	.	.	.	.	.	.	727156	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.272	.	0.0088	0.0081869	0.0025	0.0269	0.0012	0	0	5.994e-05	0.0011	0	0.0023221	359	154602	rs12945784	0.0009	0.0009	0.0010	0.0008	0.0326	0.0009	0.0009	0.0310	0.0303	0.0326	0.0017	0	0	0	0.0028	2.878e-05	0.0022	2.319e-05	0.0078	0.0079	0.0085	0.0071	0.0270	0.0075	0.0073	0.0257	0.0252	0.0270	0	0.0033	0	0	0	0.0034	0.0002	0.0043	0	1.0	0.00964	T	0.341	0.17964	T	0.512	0.37351	P	0.171	0.35348	B	.	.	.	.	0.972341	0.25606	N	1.445	0.36358	L	-2.38	0.88298	D	-2.9	0.60827	D	0.319	0.35938	-0.6811	0.61321	T	0.214	0.57534	T	9	0.005050212	0.00109	T	.	.	.	0.272	0.58758	.	.	0.33340067248	0.32956	0.30320563792761024	0.30233	0.491576977774	0.47843	0.383925557137	0.22812	T	0.175912	0.52567	T	-0.412588	0.01911	T	-0.343801	0.39914	T	0.0292814702741635	0.01880	T	0.316168	0.06277	T	0.22775126	0.45481	0.47781968	0.69749	0.22775126	0.45481	0.47781968	0.69749	-3.761	0.20223	T	.	.	0.131	0.28319	B	.	.	3.001588	0.40112	21.1	0.85230185573187844	0.15764	0.25506	0.22719	N	AEFDBHCI	0.119831	0.23370	N	-0.25449463277404	0.30924	1.728994	-0.203989606971495	0.31392	1.776189	0.997737099766794	0.35965	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.62	4.63	0.57175	-0.791000	0.04705	2.787000	0.34772	0.549000	0.26987	0.000000	0.06391	0.960000	0.29291	0.788000	0.37229	0.1444:0.7092:0.0:0.1464	7.482	0.26580	88	0.96322	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.012228	0.008772	0.000000	0.000000	0.000000	0.003788	0.05	2029.43	35	chr17	40699561	.	C	T	2029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.73;DP=524;ExcessHet=0;FS=0.637;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.054;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,99,1485:.	9	0	1	0
chr17	40818859	40818859	-	CGCCGTATCCGCCGCCGGAGCTGCTGCCTG	exonic	KRT10	.	nonframeshift insertion	KRT10:NM_000421:exon7:c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG:p.G558_G559insAGSSSGGGYG,KRT10:NM_001379366:exon7:c.1675_1676insCAGGCAGCAGCTCCGGCGGCGGATACGGCG:p.G558_G559insAGSSSGGGYG	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis with confetti, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1884778	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0	0	0	0	7.38e-05	0.0014	0.0035	6.5e-06	1	154602	rs763196192	0.0002	0.0003	0.0001	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	0	0	0	0	0	2.664e-05	0.0001	0.0038	0.0002	0.0002	0.0002	0.0001	0.0048	0.0001	8.749e-05	0.0033	0.0028	0	0	0	0	0	0	0	0	0	0.0048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	765.39	122	chr17	40818859	.	C	CCGCCGTATCCGCCGCCGGAGCTGCTGCCTG	765.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.662;DP=529;ExcessHet=0;FS=8.123;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.73;SOR=1.911	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr17	40983886	40983886	G	A	exonic	KRT40	.	nonsynonymous SNV	KRT40:NM_001385217:exon3:c.C388T:p.P130S,KRT40:NM_182497:exon3:c.C388T:p.P130S	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.266	.	0.0097	0.0111821	0.0025	0.0291	0.0009	0	0	1.498e-05	0	0.0003	0.0025226	390	154602	rs143255129	0.0010	0.0010	0.0011	0.0009	0.0360	0.0010	0.0010	0.0343	0.0336	0.0360	0.0017	0	0	0	0.0007	3.597e-05	0.0022	0.0002	0.0090	0.0091	0.0094	0.0087	0.0309	0.0086	0.0085	0.0295	0.0289	0.0309	0	0.0048	0	0	0	0	8.823e-05	0.0076	0	0.134	0.26300	T	0.207	0.26969	T	0.295	0.32424	B	0.517	0.48105	P	0.086596	0.20579	N	0.256528	1	0.08975	N	2.085	0.57729	M	-2.34	0.87989	D	-5.53	0.86073	D	0.299	0.35301	-0.5558	0.66565	T	0.195	0.54869	T	10	0.0045196414	0.00093	T	.	.	.	0.266	0.57999	.	.	0.790270410531	0.78832	0.07288653248739889	0.07225	0.268511784356	0.29362	0.29476994276	0.09624	T	0.26233	0.63389	T	-0.409385	0.02006	T	-0.337832	0.40590	T	0.0688942098567889	0.08495	T	.	.	.	0.09979561	0.23555	0.21255764	0.45730	0.09979561	0.23555	0.21255764	0.45729	-6.324	0.48912	T	.	.	0.101	0.17657	B	.;.	.;.	2.180197	0.27787	17.58	0.94439324727079066	0.24860	0.83155	0.42296	D	AEFGBI	0.221410	0.34604	N	-0.31328245187731	0.28643	1.581562	-0.318974216527482	0.27487	1.525526	1.50378438029178E-4	0.05573	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.3	4.32	0.50899	2.728000	0.46990	3.929000	0.40522	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.036000	0.13842	0.0:0.1431:0.7084:0.1485	10.627	0.44705	168	0.93464	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1366.43	37	chr17	40983886	.	G	A	1366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.461;DP=452;ExcessHet=0;FS=2.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.27;SOR=0.501	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	0	1	0
chr17	41026912	41026912	G	A	exonic	KRTAP1-5	.	stopgain	KRTAP1-5:NM_031957:exon1:c.C244T:p.Q82X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.075	0.04913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.497318	0.94214	D	0.476586	0.94137	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.943239	0.94137	33	0.99326971630600591	0.59622	0.25020	0.22572	N	AEFDBCIJ	0.071181	0.14161	N	0.443940189308683	0.63861	4.628086	0.176331101384099	0.48553	3.069706	0.999198222824983	0.38711	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.31	2.12	0.26372	0.371000	0.20182	0.021000	0.13590	0.592000	0.32167	0.004000	0.16614	0.000000	0.08366	0.807000	0.38039	0.0:0.3527:0.4791:0.1682	7.727	0.27930	432	0.80690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1509.43	34	chr17	41026912	.	G	A	1509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=481;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.232;SOR=0.768	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,105,1492	9	0	1	0
chr17	41084375	41084375	T	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	160.58	207	chr17	41084375	.	T	*	160.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.583;DP=2137;ExcessHet=0.2348;FS=0.569;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.66;MQRankSum=-12.38;QD=0.3;ReadPosRankSum=0.501;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1162:.	9	0	1	0
chr17	41084409	41084409	C	0	exonic	KRTAP4-7;LOC100996750	.	.	.	.	447	140	423	510	2	1445	0.837493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	38193.9	209	chr17	41084409	.	C	*	38193.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.841;DP=2137;ExcessHet=1.4371;FS=1.225;InbreedingCoeff=-0.0989;MLEAC=1;MLEAF=0.05;MQ=58.56;MQRankSum=-3.001;QD=18.56;ReadPosRankSum=0.622;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,111,1162:.	9	0	1	0
chr17	41105541	41105541	G	0	exonic	KRTAP4-9	.	.	.	.	418	1058	39	5	2	51	0.0226328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3643.58	101	chr17	41105541	.	G	*	3643.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.322;DP=1635;ExcessHet=0.2348;FS=1.124;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=2.21;QD=6.03;ReadPosRankSum=-1.921;SOR=0.8	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1130	9	0	1	0
chr17	41117880	41117880	G	A	exonic	KRTAP4-11	.	nonsynonymous SNV	KRTAP4-11:NM_033059:exon1:c.C436T:p.R146C	.	396	1125	1	0	0	1	0.000444247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00505006724701	.	.	0.0001	0.0018	0.0001	0	0	0	0	0	.	.	.	rs759641505	2.398e-05	2.874e-05	2.591e-05	2.204e-05	0.0002	1.741e-05	1.541e-05	7.863e-05	5.338e-05	0.0002	0	0	0	0	0.0002	1.8e-05	0.0001	1.161e-05	3.308e-05	0.0004	1.295e-05	5.409e-05	0.0002	1.267e-05	8.03e-06	3.306e-05	1.953e-05	9.895e-05	0	0	0	0	0	0	0	0	0.0002	0.014	0.53172	D	0.05	0.48080	T	0.197	0.29559	B	0.043	0.24256	B	0.009027	0.30550	U	0.000000	1	0.08975	N	2.45	0.71042	M	4.79	0.01539	T	-5.28	0.84246	D	0.174	0.18649	-0.9939	0.31591	T	0.009	0.03096	T	10	0.0326595	0.01422	T	0.00505	0.12784	T	0.116	0.32463	.	.	0.167679373172	0.16340	0.0664251906592836	0.06580	0.00826849771237	0.00747	0.204538479447	0.00600	T	0.01743	0.14224	T	-0.258192	0.13112	T	-0.608652	0.12094	T	0.110559695134636	0.13481	T	0.127087	0.00993	T	0.22406672	0.45041	0.20761688	0.45027	0.22406672	0.45041	0.20761688	0.45026	-8.734	0.65968	D	.	.	0.177	0.38676	B	.	.	2.129234	0.27108	17.35	0.90835683847494009	0.20084	0.01430	0.04814	N	AEFBI	0.053142	0.09549	N	-0.767177604203651	0.14171	0.7037787	-0.918195422349321	0.11665	0.5956682	1.81368563645829E-4	0.05844	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.57	-2.76	0.05547	-0.259000	0.08742	-1.570000	0.05148	0.667000	0.69007	0.000000	0.06391	0.000000	0.08366	0.244000	0.23106	0.0:0.5692:0.3083:0.1226	11.684	0.50735	269	0.89438	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	285.43	111	chr17	41117880	.	G	A	285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.5;DP=1165;ExcessHet=0;FS=18.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.23;MQRankSum=-7.497;QD=2;ReadPosRankSum=-3.423;SOR=2.608	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1414	9	0	1	0
chr17	41226817	41226817	A	G	exonic	KRTAP9-2	.	nonsynonymous SNV	KRTAP9-2:NM_031961:exon1:c.A163G:p.T55A	.	425	1074	23	0	0	23	0.0105942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00107116852984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs71371480	4.462e-06	6.164e-05	2.949e-06	6.002e-06	5.634e-05	1.61e-06	1.05e-06	9.33e-06	3.49e-06	0	0	0	5.634e-05	0	0	3.848e-06	0	0	8.37e-05	0.0040	8.167e-05	8.583e-05	0.0001	4.754e-05	3.715e-05	4.988e-05	3.582e-05	0.0001	0	6.923e-05	0	0	0	0	0.0001	0	0	0.239	0.17761	T	0.194	0.28120	T	0.057	0.22878	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	1.615	0.41426	L	4.93	0.01395	T	-2.18	0.49187	N	0.052	0.02366	-0.9083	0.47061	T	0.003	0.00800	T	9	0.069259465	0.09913	T	0.001071	0.01239	T	0.019	0.03383	0.272	0.22210	0.0806252709748	0.07271	0.06562531389351679	0.06501	1.12458278325	0.78412	0.193279489875	0.00288	T	0.016892	0.13877	T	-0.329445	0.06154	T	-0.711002	0.05244	T	0.0578466179088175	0.06824	T	0.00989901	0.00051	T	0.030785557	0.02802	0.043039963	0.05265	0.030785557	0.02801	0.043039963	0.05265	-2.973	0.09893	T	.	.	0.075	0.05491	B	.	.	-0.162279	0.03290	0.566	0.19617231370711175	0.00670	0.02148	0.06321	N	AEFBI	0.028638	0.02560	N	-1.71002807248366	0.00807	0.03487423	-1.80660392748605	0.00738	0.03290239	1.56655996843476E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.18	-4.25	0.03508	-0.848000	0.04435	-20.000000	0.00162	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.272:0.1967:0.143:0.3883	0.293	0.00242	115	0.95340	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	116.37	319	chr17	41226817	.	A	G	116.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=6.24;DP=2998;ExcessHet=0.2348;FS=33.069;InbreedingCoeff=-0.1428;MLEAC=2;MLEAF=0.111;MQ=56.34;MQRankSum=-9.958;QD=0.18;ReadPosRankSum=-4.657;SOR=4.215	GT:AD:DP:GQ:PL	./.:337,0:337:0:0,0,6006	7	0	2	1
chr17	41275960	41275960	C	A	exonic	KRTAP9-7	.	nonsynonymous SNV	KRTAP9-7:NM_001277332:exon1:c.C263A:p.S88Y	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.00838658	0.0020	0.0228	0.0005	0	0	4.633e-05	0.0011	0.0001	0.0019146	296	154602	rs150628784	0.0006	0.0006	0.0007	0.0005	0.0222	0.0006	0.0006	0.0209	0.0204	0.0222	0.0011	0	0	0	0.0012	1.349e-05	0.0013	0.0002	0.0057	0.0057	0.0062	0.0052	0.0200	0.0054	0.0052	0.0189	0.0184	0.0200	0	0.0018	0	0	0	0.0035	1.474e-05	0.0038	0	0.005	0.63226	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.775637	0.34204	D	3.17	0.88688	M	4.76	0.01576	T	-3.98	0.73788	D	0.205	0.22742	-1.0660	0.10316	T	0.010	0.03582	T	7	0.005143583	0.00112	T	.	.	.	0.047	0.12962	.	.	0.294918367191	0.29099	0.061991991702786485	0.06139	0.0861940666823	0.09737	0.221564501524	0.01402	T	0.041548	0.25893	T	-0.576166	0.00203	T	-0.584142	0.14177	T	0.0699702061331488	0.08647	T	.	.	.	0.2723778	0.50307	0.2914247	0.55167	0.2723778	0.50307	0.2914247	0.55166	-9.02	0.67826	D	.	.	0.165	0.36295	B	.	.	2.242458	0.28638	17.86	0.98027240081709976	0.37681	0.27558	0.23311	N	AEFGBI	0.066579	0.13047	N	-0.100362324714578	0.37376	2.173674	-0.2285866855567	0.30516	1.718897	0.0028330330639329	0.09739	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.29	3.29	0.36801	0.188000	0.16826	-2.045000	0.04296	0.427000	0.20867	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.0:1.0:0.0:0.0	12.883	0.57420	111	0.95468	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2921.43	36	chr17	41275960	.	C	A	2921.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.076;DP=639;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.55;MQRankSum=-1.147;QD=10.98;ReadPosRankSum=-0.424;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1134	9	0	1	0
chr17	41309180	41309180	C	G	exonic	KRTAP16-1	.	nonsynonymous SNV	KRTAP16-1:NM_001146182:exon1:c.G74C:p.C25S	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	.	.	0.00838658	0.0016	0.0220	0.0069	0	0	0	0	0.0001	0.0005821	90	154602	rs141977791	0.0006	0.0006	0.0007	0.0005	0.0225	0.0006	0.0006	0.0211	0.0206	0.0225	0.0013	0	0	0	0.0011	1.205e-05	0.0014	0.0002	0.0057	0.0057	0.0062	0.0052	0.0199	0.0054	0.0052	0.0188	0.0183	0.0199	0	0.0018	0	0	0	0.0034	1.47e-05	0.0038	0	0.085	0.32769	T	0.035	0.52389	D	.	.	.	.	.	.	.	.	.	.	0.998439	0.22156	N	3.195	0.89043	M	5.67	0.00768	T	-3.85	0.72353	D	0.552	0.57775	-0.9500	0.40972	T	0.003	0.00994	T	7	0.0047529936	0.00100	T	.	.	.	0.122	0.33800	0.438	0.49157	0.0611884634855	0.05136	0.21546430433567523	0.21462	.	.	0.354245781898	0.18545	T	0.111948	0.42784	T	-0.437612	0.01336	T	-0.386439	0.34969	T	0.0374100253116339	0.03229	T	.	.	.	0.20459221	0.42573	0.25545472	0.51228	0.20459221	0.42573	0.25545472	0.51227	-7.548	0.57947	D	.	.	0.189	0.40730	B	.	.	1.796350	0.22833	15.78	0.68923003944203098	0.08809	0.51683	0.28953	D	AEFDGBI	0.085437	0.17318	N	-0.229274259372969	0.31938	1.795924	-0.314017197036611	0.27645	1.535493	0.999990359858445	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.87	1.64	0.22949	1.099000	0.30625	0.781000	0.21481	0.599000	0.40250	0.758000	0.29220	0.217000	0.23687	0.361000	0.25909	0.0:0.6187:0.142:0.2393	5.593	0.16595	111	0.95468	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006928	0.016304	0.015789	0.000000	0.000000	0.033333	0.000000	0.000000	0.05	1463.43	44	chr17	41309180	.	C	G	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.95;DP=439;ExcessHet=0;FS=4.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.693;SOR=0.365	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr17	41379017	41379017	G	A	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon6:c.C1162T:p.R388C	.	426	1085	11	0	0	11	0.00504356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.100139260897	7.7e-05	0.000599042	0.0005	0	0.0002	0	0	0.0002	0.0011	0.0027	0.0004269	66	154602	rs199674249	0.0003	0.0003	0.0002	0.0003	0.0038	0.0002	0.0002	0.0026	0.0022	2.987e-05	2.236e-05	7.652e-05	0	0	0.0038	0.0002	0.0003	0.0020	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	4.841e-05	0	0.0001	0.0003	0	0	0.0034	0.0002	0.0005	0.0025	.	.	.	0.0	0.92824	D	0.999	0.77913	D	0.954	0.69447	D	0.014846	0.28412	N	0.253257	0.988469	0.40769	D	2.675	0.78361	M	-2.56	0.89627	D	.	.	.	0.339	0.38027	-0.2334	0.76798	T	0.367	0.72750	T	9	0.034047008	0.01599	T	0.100139	0.77223	D	0.226	0.52472	.	.	0.766879099095	0.76474	0.47790699170017	0.47710	0.310153319913	0.33327	0.550824522972	0.45974	T	0.660642	0.89812	D	-0.218726	0.18167	T	-0.0934374	0.63902	T	0.128473398188838	0.15240	T	0.981002	0.93456	D	0.5524838	0.70093	0.44756305	0.67832	0.5524838	0.70094	0.44756305	0.67832	-10.497	0.76830	D	.	.	0.474	0.63352	A	.	.	3.066477	0.41201	21.3	0.99852562518440979	0.93191	0.70318	0.34541	D	AEFDGBI	0.414579	0.48379	N	-0.0141221407383452	0.41216	2.461	-0.231927307959268	0.30400	1.711281	0.0214792538971461	0.13352	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.05	-0.339	0.12019	1.057000	0.30102	-1.430000	0.05458	0.671000	0.69459	0.628000	0.27982	0.000000	0.08366	0.337000	0.25363	0.0:0.0:0.2426:0.7574	14.343	0.66199	164	0.93620	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2533.43	34	chr17	41379017	.	G	A	2533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=590;ExcessHet=0;FS=0.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.728;SOR=0.782	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1453	9	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	173.14	149	chr17	41382308	.	A	G	173.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.02;DP=575;ExcessHet=0.2348;FS=186.238;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.38;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1163:.	8	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	173.14	149	chr17	41382311	.	C	G	173.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.123;DP=571;ExcessHet=0.2348;FS=186.238;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.24;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1163:.	8	0	2	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	172.14	147	chr17	41382313	.	C	G	172.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.711;DP=570;ExcessHet=0.2348;FS=182.992;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=2.09;SOR=7.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1163:.	8	0	2	0
chr17	41424343	41424343	G	A	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.C181T:p.P61S	.	413	1092	16	1	0	18	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00819086165742	0.0013	0.000599042	0.0014	0.0003	0.0006	0	0.0002	0.0023	0.0033	0.0004	0.0013001	201	154602	rs140747125	0.0014	0.0014	0.0013	0.0014	0.0128	0.0013	0.0013	0.0105	0.0096	0.0007	0.0012	0.0039	0	0.0005	0.0128	0.0014	0.0017	0.0005	0.0012	0.0012	0.0015	0.0010	0.0018	0.0011	0.0010	0.0015	0.0014	0.0003	0	0.0013	0.0058	0	0.0007	0	0.0018	0.0019	0.0002	0.392	0.10766	T	0.26	0.23029	T	0.208	0.29916	B	0.029	0.21540	B	0.005220	0.32996	N	0.139318	1	0.08975	N	1.32	0.33002	L	-1.46	0.80983	T	-0.96	0.25551	N	0.164	0.17278	-0.9296	0.44197	T	0.205	0.56376	T	10	0.012026131	0.00260	T	0.008191	0.21700	T	0.086	0.25016	.	.	0.351830644314	0.34792	0.10540859306491256	0.10470	0.0749227178598	0.08402	0.399715781212	0.25029	T	0.011377	0.10158	T	-0.439226	0.01307	T	-0.409861	0.32240	T	0.00179616865786308	0.00018	T	.	.	.	0.023317413	0.01061	0.030227507	0.01453	0.023317413	0.01061	0.030227507	0.01453	-2.533	0.06011	T	.	.	0.097	0.16010	B	.	.	0.497711	0.08667	5.440	0.85855578787782683	0.16155	0.04340	0.09903	N	AEFBI	0.037890	0.05280	N	-0.951720951188039	0.09654	0.4578506	-0.960944658818885	0.10670	0.5388846	1.72231900435501E-5	0.02871	0.497415	0.19182	0	0.55458	0.17659	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.0	1.83	0.24279	0.023000	0.13424	-0.034000	0.12756	0.671000	0.69459	0.002000	0.15269	0.000000	0.08366	0.076000	0.17014	0.1088:0.1903:0.5327:0.1682	3.101	0.05943	209	0.91859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.012228	0.017544	0.000000	0.025862	0.012195	0.003788	0.1	6465.14	179	chr17	41424343	.	G	A	6465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.588;DP=2018;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.52;SOR=0.695	GT:AD:DP:GQ:PL	0/1:131,121:252:99:3038,0,3155	8	0	2	0
chr17	41479481	41479481	G	A	exonic	KRT35	.	nonsynonymous SNV	KRT35:NM_002280:exon3:c.C577T:p.R193W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.697	0.117171296409	0.0019	0.00139776	0.0005	0.0049	0.0002	0	0	6.006e-05	0	0.0003	0.0004916	76	154602	rs138303882	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0056	0.0054	0.0063	0.0002	0	2.519e-05	0	0.0002	4.047e-05	0.0004	0.0003	0.0015	0.0015	0.0017	0.0014	0.0054	0.0014	0.0013	0.0048	0.0046	0.0054	0	0.0005	0	0	0	0	0	0.0009	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000206	0.47681	D	0.000000	0.997188	0.43692	D	4.835	0.99698	H	-2.97	0.92007	D	-7.5	0.95045	D	0.795	0.80278	0.863	0.95188	D	0.897	0.96588	D	10	0.077920586	0.12357	T	0.117171	0.79688	D	0.697	0.89053	.	.	0.721971194059	0.71951	0.6926204579238022	0.69202	0.366285121553	0.38205	0.595311641693	0.52243	T	0.852633	0.96660	D	-0.0231773	0.48399	T	0.19585	0.82898	D	0.18564619798039	0.19584	T	0.911709	0.68653	D	0.82667094	0.85673	0.77546406	0.86752	0.82667094	0.85674	0.77546406	0.86753	-6.596	0.51022	T	.	.	0.155	0.42244	B	.;.	.;.	4.085013	0.60795	24.3	0.99918809401954034	0.98586	0.96306	0.68496	D	AEFGBI	0.801059	0.72687	D	0.68954256000995	0.78946	6.975318	0.501375207931767	0.68085	5.171376	0.0266547801212618	0.13726	0.569682	0.32691	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	4.47	2.41	0.28644	1.455000	0.34800	-0.420000	0.09290	0.671000	0.69459	1.000000	0.71638	0.006000	0.19429	0.952000	0.50033	0.0:0.0:0.7016:0.2984	12.541	0.55520	449	0.79428	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2646.43	73	chr17	41479481	.	G	A	2646.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=890;ExcessHet=0;FS=0.493;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-1.099;SOR=0.744	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	9	0	1	0
chr17	41487406	41487406	T	A	exonic	KRT36	.	nonsynonymous SNV	KRT36:NM_003771:exon5:c.A932T:p.E311V	.	411	1064	45	2	0	49	0.022508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.826	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs139865124	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0015	0.0038	2.519e-05	3.747e-05	0.0346	0.0006	0.0028	0.0115	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000097	0.51296	D	0.000000	0.999452	0.47118	D	3.995	0.96723	H	-2.83	0.91249	D	-6.56	0.91868	D	0.43	0.46928	1.054	0.98202	D	0.904	0.96822	D	10	0.012003839	0.00260	T	.	.	.	0.826	0.94466	.	.	0.922751822367	0.92196	0.5184686235104664	0.51769	0.841499628606	0.68094	0.47562456131	0.35455	T	0.584972	0.86467	D	0.123324	0.66705	D	0.413765	0.92547	D	0.155424858219359	0.17527	T	0.817618	0.47476	T	0.8597732	0.88068	0.89466405	0.94597	0.8597732	0.88069	0.89466405	0.94598	-11.675	0.83232	D	.	.	0.557	0.67081	A	.;.	.;.	4.570543	0.72107	25.8	0.99565129901665927	0.72014	0.94864	0.62595	D	AEFDGBCI	0.765615	0.70205	D	0.920670767402718	0.92734	11.59737	0.843328895874802	0.92620	11.53265	0.999899793254436	0.45129	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	3.203000	0.50777	7.780000	0.68649	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:0.0:1.0	16.407	0.83516	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.05	3039.43	43	chr17	41487406	.	T	A	3039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.269;DP=532;ExcessHet=0;FS=1.227;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-1.096;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr17	41487407	41487407	C	A	exonic	KRT36	.	stopgain	KRT36:NM_003771:exon5:c.G931T:p.E311X	.	411	1063	46	2	0	50	0.0229779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00239617	0.0022	0.0005	0.0020	0.0001	0	0.0011	0.0045	0.0099	0.0019599	303	154602	rs145372311	0.0015	0.0015	0.0011	0.0019	0.0346	0.0015	0.0015	0.0306	0.0291	0.0008	0.0016	0.0038	2.519e-05	3.748e-05	0.0346	0.0006	0.0028	0.0116	0.0009	0.0010	0.0007	0.0012	0.0133	0.0008	0.0008	0.0107	0.0097	0.0001	0	0.0008	0.0020	0.0002	0	0.0306	0.0006	0.0028	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.000097	0.51296	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.136	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237408	0.77415	D	0.577639	0.96417	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	10.308796	0.99688	46	0.9978149732722128	0.86780	0.97345	0.74163	D	AEFDGBCI	0.278041	0.39242	N	1.22290231108648	0.99733	25.95499	1.09354310977779	0.99756	26.34876	0.999999598163311	0.74766	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.584449	0.35598	0	.	.	5.95	5.95	0.96415	5.814000	0.68884	7.566000	0.60594	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.938000	0.47775	0.0:1.0:0.0:0.0	20.378	0.98924	445	0.79730	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022155	0.005051	0.025815	0.052632	0.000000	0.025862	0.003049	0.022727	0.05	3039.43	43	chr17	41487407	.	C	A	3039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.087;DP=531;ExcessHet=0;FS=1.227;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.962;SOR=0.578	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr17	41586669	41586669	G	A	exonic	KRT14	.	nonsynonymous SNV	KRT14:NM_000526:exon1:c.C166T:p.R56C	Dermatopathia pigmentosa reticularis, Autosomal dominant;Epidermolysis bullosa simplex, Dowling-Meara type, Autosomal dominant;Epidermolysis bullosa simplex, Koebner type, Autosomal dominant;Epidermolysis bullosa simplex, Weber-Cockayne type, Autosomal dominant;Epidermolysis bullosa simplex, recessive 1, Autosomal recessive;Naegeli-Franceschetti-Jadassohn syndrome, Autosomal dominant	2	1500	18	2	0	22	0.00727995	.	.	.	715437	not_provided|Epidermolysis_bullosa_simplex_1A,_generalized_severe|Dermatopathia_pigmentosa_reticularis|Epidermolysis_bullosa_simplex,_Koebner_type|Epidermolysis_bullosa_simplex_1D,_generalized,_intermediate_or_severe,_autosomal_recessive|Epidermolysis_bullosa_simplex_1C,_localized|Naegeli-Franceschetti-Jadassohn_syndrome	MedGen:C3661900|MONDO:MONDO:0007550,MedGen:C0079295,OMIM:131760,Orphanet:79396|MONDO:MONDO:0007445,MedGen:C0406778,OMIM:125595,Orphanet:86920|MONDO:MONDO:0007554,MedGen:C5561924,OMIM:131900,Orphanet:79399|MONDO:MONDO:0010976,MedGen:C3715082,OMIM:601001,Orphanet:89838|MONDO:MONDO:0007551,MedGen:C0080333,OMIM:131800,Orphanet:79400|MONDO:MONDO:0008059,MedGen:C0343111,OMIM:161000,Orphanet:69087	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.380	.	0.0050	0.0061901	0.0090	0.0013	0.0030	0	0.0095	0.0090	0.0124	0.0160	0.0055885	864	154602	rs117484558	0.0082	0.0082	0.0081	0.0083	0.0141	0.0081	0.0080	0.0134	0.0132	0.0014	0.0020	0.0048	0.0001	0.0065	0.0027	0.0087	0.0072	0.0141	0.0054	0.0054	0.0056	0.0053	0.0112	0.0051	0.0050	0.0088	0.0079	0.0014	0.0022	0.0034	0.0023	0	0.0075	0.0034	0.0082	0.0052	0.0112	0.116	0.28395	T	0.1	0.38742	T	0.0	0.02946	B	0.0	0.01387	B	0.000053	0.53742	D	0.000000	0.999962	0.52935	D	3.005	0.85968	M	-1.8	0.83893	D	-2.58	0.55662	D	0.621	0.63628	-0.6123	0.64308	T	0.237	0.60427	T	10	0.008538753	0.00194	T	.	.	.	0.380	0.69780	.	.	0.74133060669	0.73900	0.7890975023116747	0.78861	0.649699804287	0.58275	0.616685152054	0.55260	T	0.448357	0.79027	T	-0.285055	0.10139	T	-0.170562	0.57392	T	0.0364909913231952	0.03067	T	0.571043	0.20346	T	0.12033522	0.28318	0.105356894	0.25324	0.12033522	0.28318	0.105356894	0.25323	-8.583	0.64977	D	0.2293726037019945	0.31028	0.337	0.55713	B	.	.	4.656435	0.74273	26.1	0.97189278484177932	0.32758	0.64521	0.32434	D	AEFDBCI	0.191915	0.31909	N	-0.523301636129456	0.21328	1.13107	-0.435261523772592	0.23970	1.310039	0.999935064420117	0.46732	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.37	3.4	0.38031	1.353000	0.33649	7.253000	0.57936	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.412000	0.27050	0.1706:0.0:0.8294:0.0	9.076	0.35683	276	0.89131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001604	0.000000	0.000000	0.000000	0.050000	0.000000	0.009259	0.003817	0.05	1018.43	35	chr17	41586669	.	G	A	1018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.02;DP=509;ExcessHet=0;FS=1.772;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.65;MQRankSum=-1.93;QD=11.84;ReadPosRankSum=-1.357;SOR=0.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr17	41828920	41828920	T	C	exonic	NT5C3B	.	nonsynonymous SNV	NT5C3B:NM_052935:exon7:c.A437G:p.Y146C	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.152914097345	.	.	0.0001	0	0	0	0	0.0002	0	0	9.06e-05	14	154602	rs782636218	2.463e-05	2.463e-05	2.314e-05	2.613e-05	2.159e-05	1.803e-05	1.6e-05	1.46e-05	1.227e-05	0	0	0	0	3.744e-05	0	2.159e-05	0.0002	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.078	0.55530	T	0.114	0.36765	T	.	.	.	.	.	.	0.000950	0.40932	D	0.249304	0.993719	0.42029	D	1.87	0.49600	L	-1.78	0.83737	D	-2.73	0.63438	D	0.505	0.53708	-0.1193	0.79650	T	0.523	0.82197	D	10	0.35141474	0.51992	T	0.152914	0.83425	D	0.527	0.80007	.	.	0.736057821024	0.73370	0.5964584121782436	0.59575	0.50239789988	0.48599	0.352752506733	0.18326	T	0.61673	0.88796	D	-0.0903847	0.38012	T	-0.141906	0.59953	T	0.259205342978235	0.23280	T	0.588241	0.23235	T	0.25564036	0.48599	0.33857486	0.59634	0.25564036	0.48599	0.33857486	0.59633	-7.686	0.58910	D	.	.	0.077	0.12323	B	.;.;.;.	.;.;.;.	3.365414	0.46485	22.3	0.99119656896272446	0.52958	0.61426	0.31481	D	AEFBI	0.581194	0.58130	D	-0.122337387710274	0.36420	2.10498	-0.2482292110411	0.29833	1.674627	0.0186537409483866	0.13083	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.4	3.19	0.35720	2.850000	0.47993	1.408000	0.26256	0.665000	0.62972	0.114000	0.23067	0.955000	0.29136	0.888000	0.42677	0.1264:0.0:0.1436:0.73	8.451	0.32035	539	0.73055	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2056.43	33	chr17	41828920	.	T	C	2056.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=471;ExcessHet=0;FS=1.265;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.447;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr17	41965283	41965283	G	A	exonic	TTC25	.	nonsynonymous SNV	TTC25:NM_031421:exon12:c.G1819A:p.E607K	Ciliary dyskinesia, primary, 35, Autosomal recessive	420	1097	5	0	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0018	0	0.0001	0.0001	0	5.28e-05	0.0027	0.0129	0.0013195	204	154602	rs200610016	0.0013	0.0013	0.0007	0.0018	0.0105	0.0012	0.0012	0.0099	0.0096	0	0.0001	0	2.774e-05	0	0.0014	8.297e-05	0.0008	0.0105	0.0004	0.0004	0.0003	0.0005	0.0097	0.0003	0.0003	0.0075	0.0067	2.405e-05	0	0.0003	0	0.0002	0	0	8.82e-05	0.0005	0.0097	.	.	.	0.092	0.39954	T	0.798	0.44840	P	0.22	0.37792	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.12627	.	.	.	.	.	.	.	0.0037316978	0.00069	T	.	.	.	.	.	.	.	0.351180957027	0.34734	0.37280934859343895	0.37194	.	.	0.391143590212	0.23830	T	0.021469	0.16712	T	-0.260597	0.12830	T	-0.137711	0.60316	T	.	.	.	0.667233	0.27634	T	0.025718594	0.01542	0.06028542	0.11455	0.025718594	0.01542	0.06028542	0.11454	-5.154	0.38470	T	.	.	0.093	0.13969	B	.	.	0.622410	0.09910	6.668	0.50793049456722161	0.04447	0.04653	0.10326	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.999942329062782	0.47345	0.119485	0.03058	0	0.097471	0.02872	0	0.068591	0.01938	0	0.137164	0.03996	0	0.120704	0.24709	3.87	1.79	0.23992	0.549000	0.23037	2.418000	0.32674	-0.153000	0.12021	0.006000	0.17386	0.985000	0.30750	0.001000	0.02609	0.1311:0.2453:0.6236:0.0	4.714	0.12264	476	0.77720	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.015152	0.05	913.43	34	chr17	41965283	.	G	A	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=407;ExcessHet=0;FS=1.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=0.331;SOR=0.47	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	9	0	1	0
chr17	41973715	41973715	C	T	exonic	CNP	.	nonsynonymous SNV	CNP:NM_001330216:exon4:c.C997T:p.R333W,CNP:NM_033133:exon4:c.C1057T:p.R353W	.	416	1104	2	0	0	2	0.000904977	.	.	.	677380	Marfanoid_habitus_and_intellectual_disability|not_specified	MedGen:CN263130|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0244342854937	8.2e-05	.	6.089e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs376643712	3.906e-05	4.104e-05	4.225e-05	3.584e-05	4.233e-05	3.053e-05	2.788e-05	3.262e-05	2.923e-05	0	2.244e-05	3.841e-05	0	0	0	4.233e-05	0.0001	1.162e-05	3.939e-05	3.937e-05	2.57e-05	5.369e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.537e-05	0	0.0002	0	0	5.879e-05	0	0	0.01	0.56456	D	0.013	0.63109	D	0.992	0.64738	D	0.653	0.52567	P	0.060420	0.22250	N	0.475497	1	0.81001	D	2.52	0.73523	M	0.78	0.49358	T	-3.5	0.68178	D	0.184	0.38129	-0.9197	0.45594	T	0.146	0.47074	T	10	0.26049495	0.43499	T	0.024434	0.47428	T	0.127	0.34888	.	.	0.307950594193	0.30395	0.6876306475253328	0.68703	0.803677743758	0.66365	0.319576263428	0.13357	T	0.354874	0.72196	T	-0.250937	0.13982	T	-0.405239	0.32774	T	0.740791976451874	0.42779	D	0.952505	0.81867	D	0.15831517	0.35624	0.07058756	0.15015	0.15831517	0.35623	0.07058756	0.15015	-7.439	0.57180	T	.	.	0.145	0.31980	B	.;.	.;.	3.521585	0.49371	22.8	0.99893883487197854	0.96742	0.82522	0.41737	D	AEFDBHCI	0.786608	0.71664	D	0.0886656703348942	0.45935	2.841801	0.0539893093190097	0.42265	2.553408	0.999999058152802	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.36	2.16	0.26663	0.767000	0.26238	1.757000	0.28522	0.599000	0.40250	0.711000	0.28732	1.000000	0.68203	0.938000	0.47775	0.621:0.379:0.0:0.0	13.511	0.60964	482	0.77288	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	1304.43	34	chr17	41973715	.	C	T	1304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.738;DP=411;ExcessHet=0;FS=3.796;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.191;SOR=0.52	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1291	9	0	1	0
chr17	42027715	42027715	C	T	exonic	ZNF385C	.	nonsynonymous SNV	ZNF385C:NM_001378270:exon8:c.G1175A:p.R392K	.	414	1100	6	2	0	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0017	0.00179712	0.0017	0.0005	0.0009	0	0.0015	0.0017	0.0022	0.0041	0.0016753	259	154602	rs151041175	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0046	0.0044	0.0004	0.0012	0.0003	0	0.0015	0.0028	0.0017	0.0013	0.0049	0.0015	0.0015	0.0017	0.0013	0.0046	0.0013	0.0013	0.0031	0.0026	0.0003	0	0.0029	0.0003	0	0.0008	0	0.0019	0.0024	0.0046	0.027	0.46513	D	0.043	0.49942	D	.	.	.	.	.	.	0.000001	0.62929	N	0.093378	0.99958	0.47691	D	.	.	.	2.93	0.09822	T	-2.49	0.54217	N	0.342	0.38335	-1.0839	0.06609	T	0.022	0.09513	T	10	0.010290474	0.00230	T	.	.	.	0.104	0.29647	.	.	0.0920862733494	0.08535	0.34173564279456925	0.34086	.	.	0.588570713997	0.51293	T	.	.	.	-0.425054	0.01589	T	-0.383208	0.35346	T	0.0901751338472701	0.11239	T	0.89861	0.64536	D	0.5295049	0.68802	0.63403386	0.78640	0.5295049	0.68803	0.63403386	0.78641	.	.	.	.	.	0.343	0.56138	A	.;.;.	.;.;.	3.836771	0.55490	23.6	0.98206162371127925	0.39167	0.96124	0.67642	D	AEFDBI	0.725255	0.67430	D	-0.142888475265299	0.35538	2.042532	-0.0226006809192264	0.38695	2.283541	0.999998742448566	0.74766	0.0	0.00013	3	0.514364	0.08380	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	5.14	3.16	0.35406	4.561000	0.60519	4.859000	0.45451	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8575:0.0:0.1425	11.774	0.51245	496	0.76301	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000519	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	649.43	38	chr17	42027715	.	C	T	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.277;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.991;SOR=0.634	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1179	9	0	1	0
chr17	42104906	42104906	C	T	exonic	DHX58	.	nonsynonymous SNV	DHX58:NM_024119:exon11:c.G1423A:p.D475N	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	7.7e-05	0.00259585	0.0019	0.0002	8.649e-05	0	0	0.0001	0	0.0134	0.0016041	248	154602	rs151154572	0.0007	0.0007	0.0004	0.0010	0.0113	0.0007	0.0007	0.0108	0.0105	0.0002	8.946e-05	0	2.519e-05	0	0.0002	3.058e-05	0.0008	0.0113	0.0004	0.0004	0.0002	0.0006	0.0114	0.0003	0.0003	0.0090	0.0081	9.621e-05	0	0	0	0	0	0	1.47e-05	0	0.0114	0.072	0.34982	T	0.219	0.25987	T	0.287	0.32229	B	0.084	0.29270	B	0.138899	0.02869	N	1.567910	1	0.08975	N	0.425	0.12573	N	3.59	0.04544	T	-2.11	0.48020	N	0.207	0.22998	-0.9453	0.41764	T	0.013	0.05321	T	10	0.0049121976	0.00105	T	.	.	.	0.029	0.06676	.	.	0.203808441222	0.19973	0.20307903529937527	0.20224	0.234936887306	0.26027	0.272790312767	0.06507	T	0.178201	0.52877	T	-0.727839	0.00025	T	-0.807236	0.01728	T	0.00866139836402994	0.00106	T	0.748825	0.36981	T	0.04744921	0.08111	0.046427917	0.06470	0.04744921	0.08110	0.046427917	0.06470	-4.974	0.36557	T	.	.	0.073	0.04558	B	.	.	1.670437	0.21294	15.14	0.98473501368372696	0.41884	0.05799	0.11735	N	AEFBI	0.085068	0.17242	N	-0.963869855698998	0.09384	0.4438857	-1.05937744605127	0.08512	0.4188981	0.831545775058741	0.24703	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	5.29	-2.46	0.06089	0.016000	0.13272	-0.354000	0.09723	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4611:0.1007:0.4382	8.468	0.32130	323	0.86843	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1790.43	34	chr17	42104906	.	C	T	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.553;DP=446;ExcessHet=0;FS=4.131;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=-0.355;SOR=0.644	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1158	9	0	1	0
chr17	42121297	42121297	T	G	exonic	KAT2A	.	nonsynonymous SNV	KAT2A:NM_001376227:exon1:c.A8C:p.E3A,KAT2A:NM_021078:exon1:c.A8C:p.E3A	.	448	1068	3	3	0	9	0.0041958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0164156692786	0.0002	0.00159744	0	0	0	0	0	0	0	0	0.0011142	29	26028	rs374471583	0.0015	0.0014	0.0015	0.0016	0.0045	0.0015	0.0015	0.0040	0.0038	0.0004	0.0016	0.0001	0	0.0015	0.0015	0.0015	0.0013	0.0045	0.0014	0.0014	0.0015	0.0012	0.0046	0.0012	0.0011	0.0031	0.0026	0.0002	0	0.0020	0.0003	0	0.0008	0	0.0019	0.0033	0.0046	0.0	0.91255	D	0.296	0.20615	T	0.092	0.25296	B	0.099	0.30579	B	0.310131	0.14448	N	0.598796	0.897129	0.36084	D	0	0.06538	N	3.51	0.04959	T	-0.82	0.22508	N	0.313	0.35301	-1.0171	0.24657	T	0.018	0.07234	T	10	0.010338813	0.00230	T	0.016416	0.37668	T	0.075	0.21907	.	.	0.435371449458	0.43157	0.20599664928697853	0.20516	1.00142673807	0.74423	0.768750190735	0.77237	T	0.205754	0.56490	T	-0.453232	0.01081	T	-0.429671	0.29971	T	0.176087815687351	0.18985	T	0.772323	0.40326	T	0.13840745	0.32012	0.1484923	0.35100	0.13840745	0.32012	0.1484923	0.35099	-4.008	0.23923	T	.	.	0.064	0.01738	B	.	.	4.327760	0.66282	24.9	0.99014349262818402	0.50441	0.94867	0.62605	D	ALL	0.567286	0.57293	D	-0.0801240121782653	0.38265	2.238467	0.0762542482059105	0.43356	2.639158	1.0	0.98316	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	4.51	4.51	0.54589	3.833000	0.55492	6.024000	0.52834	0.566000	0.28629	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.832	0.51574	319	0.87030	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001153	0.000000	0.000000	0.007463	0.000000	0.000000	0.003676	0.000000	0.05	134.43	28	chr17	42121297	.	T	G	134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.16;DP=223;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=-1.791;SOR=0.943	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:30:90:.:.:0,90,837:.	9	0	1	0
chr17	42162261	42162261	C	T	exonic	KCNH4	.	nonsynonymous SNV	KCNH4:NM_012285:exon15:c.G2645A:p.R882Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.283848843039	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169628526	8.894e-06	9.577e-06	6.807e-06	1.1e-05	4.474e-05	4.96e-06	3.82e-06	7.42e-06	2.78e-06	0	4.474e-05	0	2.521e-05	0	0	8.094e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.25355	T	0.213	0.26467	T	0.009	0.15093	B	0.002	0.06944	B	0.156807	0.17788	N	0.404399	0.592839	0.31005	N	0.895	0.22405	L	-5.07	0.98648	D	-0.59	0.17624	N	0.215	0.24010	0.693	0.93092	D	0.848	0.94930	D	10	0.17253578	0.32032	T	0.283849	0.90327	D	0.331	0.65325	0.345	0.33950	0.559037810454	0.55565	0.19489781520610294	0.19407	0.576773492604	0.53626	0.343684196472	0.16988	T	0.257311	0.62833	T	-0.0507128	0.44338	T	-0.134775	0.60568	T	0.640536069869995	0.38060	D	0.791921	0.43319	T	0.046603937	0.07827	0.061717436	0.11961	0.046603937	0.07827	0.061717436	0.11961	-4.196	0.26694	T	.	.	0.070	0.03849	B	.;.	.;.	2.783161	0.36562	20.3	0.98844376961340363	0.47186	0.68300	0.33750	D	AEFGBI	0.216582	0.34180	N	-0.555798765588231	0.20303	1.069256	-0.417332365604998	0.24489	1.341245	0.27523172747297	0.18933	0.533608	0.22052	0	0.588066	0.40923	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	4.91	2.93	0.33092	1.503000	0.35323	1.248000	0.25151	-0.202000	0.08738	0.990000	0.36992	0.623000	0.25826	0.864000	0.41028	0.0:0.8243:0.0:0.1757	8.913	0.34725	313	0.87327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1630.43	35	chr17	42162261	.	C	T	1630.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.314;DP=420;ExcessHet=0;FS=2.826;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=1.16;SOR=0.496	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr17	42184507	42184507	G	C	exonic	HCRT	.	nonsynonymous SNV	HCRT:NM_001524:exon2:c.C43G:p.L15V	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.323	0.0523102601945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132e-06	2.052e-06	1.408e-06	2.87e-06	9.16e-07	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0	9.16e-07	3.408e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.24090	T	0.771	0.04461	T	0.999	0.77913	D	0.976	0.73562	D	0.380244	0.13399	U	0.586924	0.927198	0.36857	D	2.125	0.59049	M	-1.7	0.83072	D	0.38	0.03579	N	0.34	0.38129	0.266	0.87005	D	0.659	0.88144	D	10	0.54763544	0.64074	D	0.05231	0.65021	D	0.323	0.64522	0.638	0.77470	0.840425016916	0.83889	0.5766951461758126	0.57598	1.96447962958	0.93503	0.560749650002	0.47374	T	0.614701	0.87839	D	0.026862	0.55304	T	-0.199191	0.54724	T	0.965694427490234	0.67347	D	0.537746	0.18100	T	0.16168788	0.36195	0.20396304	0.44497	0.16168788	0.36195	0.20396304	0.44496	-4.787	0.34440	T	0.08987277991734725	0.05537	0.081	0.08176	B	.	.	2.498318	0.32247	18.98	0.99771205983049771	0.85918	0.97530	0.75350	D	ALL	0.290851	0.40212	N	0.445060890009647	0.63923	4.635744	0.40719817288903	0.62014	4.409838	1.0	0.98316	0.437478	0.07067	0	0.606814	0.50340	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.38	4.38	0.52019	0.969000	0.28967	3.741000	0.39650	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	17.478	0.87558	312	0.87382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	387.43	33	chr17	42184507	.	G	C	387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.881;DP=294;ExcessHet=0;FS=1.356;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.072;SOR=0.628	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,934	9	0	1	0
chr17	42670271	42670271	C	G	exonic	PLEKHH3	.	nonsynonymous SNV	PLEKHH3:NM_024927:exon11:c.G1660C:p.V554L	.	428	1091	3	0	0	3	0.001373	.	.	.	2337940	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.108898854201	.	.	0	.	0	0	.	.	.	0	3.84e-05	1	26028	rs763378432	0.0003	0.0004	0.0002	0.0004	0.0084	0.0003	0.0003	0.0076	0.0073	0	0	0	0	0	0.0003	1.463e-05	0.0003	0.0084	0.0003	0.0003	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	0	0	0	0	0.0002	0	0	4.438e-05	0	0.0077	.	.	.	0.299	0.20422	T	0.002	0.09854	B	0.007	0.12992	B	0.597721	0.05628	N	1.307990	1	0.23147	N	0	0.06538	N	1.04	0.40218	T	.	.	.	0.073	0.04668	-1.0445	0.15971	T	0.039	0.16806	T	9	0.011127859	0.00244	T	0.108899	0.78563	D	0.062	0.17934	0.352	0.35084	0.37550373646	0.37164	0.429532046753323	0.42870	1.46540379897	0.86441	0.911213040352	0.97584	D	0.098068	0.41088	T	-0.190392	0.22202	T	-0.511261	0.21185	T	0.0805165784099286	0.10053	T	0.734627	0.35288	T	0.118411236	0.27899	0.0877749	0.20425	0.118411236	0.27899	0.0877749	0.20424	-2.149	0.03800	T	.	.	0.099	0.18331	B	.;.	.;.	2.417006	0.31076	18.63	0.94928056300588437	0.25810	0.31453	0.24341	N	ALL	0.144499	0.26748	N	-0.904341025556349	0.10740	0.514715	-0.775725749978351	0.15091	0.7919602	0.999999997543906	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.519653	0.09787	0	0.711	0.71501	0	.	.	3.96	2.97	0.33479	1.308000	0.33133	0.034000	0.13773	0.487000	0.22268	0.001000	0.13787	0.000000	0.08366	0.935000	0.47363	0.1892:0.8108:0.0:0.0	10.841	0.45923	386	0.83455	FERM central domain|FERM domain|Band 4.1 domain;FERM central domain|FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004775	0.000000	0.001916	0.000000	0.000000	0.000000	0.000000	0.020619	0.05	129.45	15	chr17	42670271	.	C	G	129.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=141;ExcessHet=0;FS=0;InbreedingCoeff=-0.0544;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:51:.:.:0,51,497:.	9	0	1	0
chr17	42676460	42676460	-	CGTCCC	exonic	PLEKHH3	.	nonframeshift insertion	PLEKHH3:NM_024927:exon1:c.103_104insGGGACG:p.D34_E35insGD	.	414	1075	28	2	3	35	0.0146654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00339457	0.0051	0.0011	0.0022	0	0.0030	0.0062	0.0090	0.0082	0.0024973	65	26028	rs575311542	0.0071	0.0071	0.0070	0.0071	0.0088	0.0069	0.0069	0.0083	0.0080	0.0014	0.0023	0.0048	0	0.0028	0.0087	0.0078	0.0073	0.0088	0.0047	0.0047	0.0051	0.0043	0.0083	0.0044	0.0043	0.0069	0.0067	0.0013	0.0186	0.0027	0.0063	0	0.0022	0	0.0075	0.0062	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1058.39	37	chr17	42676460	.	T	TCGTCCC	1058.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.118;DP=386;ExcessHet=0;FS=0.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.814;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,900	9	0	1	0
chr17	42780907	42780907	T	G	exonic	WNK4	.	nonsynonymous SNV	WNK4:NM_032387:exon1:c.T209G:p.L70R	Pseudohypoaldosteronism, type IIB, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.137239746654	7.8e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs369689386	1.512e-05	1.505e-05	1.641e-05	1.381e-05	0.0007	9.9e-06	8.45e-06	0.0002	0.0001	2.988e-05	0	7.658e-05	0	0	0.0007	8.995e-06	3.316e-05	3.478e-05	3.283e-05	3.281e-05	2.57e-05	4.028e-05	0.0002	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	6.534e-05	0	0.0002	0	0	2.941e-05	0	0.0002	0.002	0.72154	D	0.199	0.27679	T	0.251	0.31212	B	0.055	0.25995	B	0.002013	0.37457	N	0.000000	0.98373	0.24861	N	2.34	0.67151	M	-0.54	0.70950	T	-2.09	0.47683	N	0.411	0.45142	-0.8530	0.51760	T	0.188	0.53797	T	10	0.1953173	0.35378	T	0.13724	0.81973	D	0.240	0.54500	.	.	0.663891511034	0.66106	0.4785229976137827	0.47772	0.943704141384	0.72318	0.830872178078	0.86696	D	0.252289	0.62266	T	-0.0594846	0.42989	T	-0.222592	0.52486	T	0.596488118171692	0.36261	D	0.790321	0.43084	T	0.6176535	0.73638	0.5936172	0.76412	0.6176535	0.73639	0.5936172	0.76413	-3.574	0.17482	T	.	.	0.231	0.46331	B	.	.	3.506075	0.49079	22.7	0.99641354718926123	0.76695	0.19171	0.20556	N	AEFDBHCI	0.082066	0.16612	N	-0.300693489613604	0.29123	1.612227	-0.211847109483685	0.31109	1.757572	0.999999893700428	0.74766	0.437478	0.07067	0	0.514364	0.08380	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.37	4.3	0.50540	-0.274000	0.08569	5.926000	0.51241	0.647000	0.52776	0.000000	0.06391	1.000000	0.68203	0.990000	0.65344	0.0:0.0844:0.1609:0.7547	6.371	0.20686	237	0.90758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	218.43	37	chr17	42780907	.	T	G	218.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.646;DP=319;ExcessHet=0;FS=3.393;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=1.38;SOR=1.18	GT:AD:DP:GQ:PL	0/0:30,0:30:87:0,87,1305	9	0	1	0
chr17	42796489	42796489	C	T	exonic	WNK4	.	stopgain	WNK4:NM_001321299:exon17:c.C2632T:p.R878X,WNK4:NM_032387:exon18:c.C3640T:p.R1214X	Pseudohypoaldosteronism, type IIB, Autosomal dominant	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433750186	1.437e-05	1.436e-05	1.225e-05	1.65e-05	2.987e-05	9.23e-06	7.84e-06	1.093e-05	8.81e-06	2.987e-05	0	3.826e-05	0	0	0	1.709e-05	0	0	1.314e-05	1.313e-05	0	2.691e-05	6.541e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.541e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.004745	0.33426	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.843	0.83885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504217	0.94413	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.864463	0.98130	38	0.99468818582149265	0.66207	0.83430	0.42548	D	AEFBCI	0.282118	0.39554	N	0.647080412799092	0.76180	6.439103	0.4971007664179	0.67797	5.132448	0.999820459456203	0.43622	0.554377	0.28877	0	0.54472	0.11627	0	0.602189	0.34648	0	0.528226	0.09195	0	.	.	5.51	3.29	0.36801	0.829000	0.27102	2.740000	0.34455	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.3199:0.68:0.0:0.0	15.567	0.76040	240	0.90628	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	664.43	32	chr17	42796489	.	C	T	664.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.169;DP=320;ExcessHet=0;FS=1.217;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.323;SOR=0.425	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	9	0	1	0
chr17	42845444	42845444	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.G818A:p.R273Q,AOC2:NM_009590:exon1:c.G818A:p.R273Q	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0071	0.00279553	0.0074	0.0028	0.0059	0.0001	0.0047	0.0110	0.0088	0.0017	0.0073479	1136	154602	rs35508987	0.0090	0.0090	0.0093	0.0086	0.0120	0.0088	0.0088	0.0103	0.0102	0.0031	0.0051	0.0047	7.557e-05	0.0048	0.0120	0.0104	0.0084	0.0021	0.0056	0.0056	0.0057	0.0055	0.0087	0.0053	0.0052	0.0082	0.0079	0.0027	0.0154	0.0034	0.0038	0	0.0039	0.0103	0.0087	0.0033	0.0029	0.626	0.05214	T	0.613	0.07617	T	0.007	0.16265	B	0.002	0.11217	B	0.992717	0.07913	N	1.003210	1	0.08975	N	0.145	0.08828	N	2.41	0.15492	T	-1.12	0.28906	N	0.132	0.18512	-0.9461	0.41632	T	0.014	0.05465	T	10	0.0034820437	0.00062	T	.	.	.	0.030	0.07022	.	.	0.27479166964	0.27093	0.26446185152164287	0.26359	0.0274467866167	0.02809	0.325650811195	0.14276	T	0.129138	0.45724	T	-0.675993	0.00051	T	-0.735832	0.04068	T	0.0154673346022734	0.00348	T	0.20068	0.04486	T	0.03271112	0.03348	0.03697657	0.03254	0.03271112	0.03348	0.03697657	0.03253	-3.324	0.14048	T	.	.	0.060	0.00964	B	.;.	.;.	0.328456	0.07025	3.586	0.84758088511649399	0.15480	0.07583	0.13594	N	AEFDBHCI	0.033313	0.03926	N	-0.96308250136129	0.09401	0.4447697	-0.81931881968508	0.14028	0.7308428	0.643147226268311	0.22072	0.460665	0.09802	0	0.379588	0.06130	0	0.575934	0.27490	0	0.508809	0.08732	0	.	.	5.75	1.03	0.19161	-0.002000	0.12858	1.902000	0.29588	-1.577000	0.00925	0.000000	0.06391	0.973000	0.29867	0.000000	0.00833	0.3468:0.0:0.5339:0.1193	6.448	0.21087	262	0.89730	.;.	.	.	.	.	rs35508987	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.020202	0.014946	0.026316	0.000000	0.017241	0.000000	0.003788	0.05	1857.43	38	chr17	42845444	.	G	A	1857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=505;ExcessHet=0;FS=2.655;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.568;SOR=0.494	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1192	9	0	1	0
chr17	42989528	42989528	A	G	exonic	RUNDC1	.	nonsynonymous SNV	RUNDC1:NM_173079:exon3:c.A845G:p.N282S,RUNDC1:NM_001321381:exon4:c.A851G:p.N284S	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00292174078804	.	.	0.0002	0	0	0	0	1.501e-05	0.0011	0.0012	0.0001488	23	154602	rs376014187	0.0001	0.0001	7.215e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	2.236e-05	0	2.519e-05	0	0.0003	2.968e-05	0.0001	0.0017	3.939e-05	3.937e-05	1.285e-05	6.711e-05	0.0008	1.714e-05	1.129e-05	0.0003	0.0002	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0008	0.481	0.08212	T	0.326	0.18789	T	0.0	0.02946	B	0.001	0.04355	B	0.001902	0.37691	N	0.250265	0.962448	0.38291	D	0.405	0.12330	N	2.29	0.17113	T	-0.78	0.21644	N	0.154	0.15888	-1.0234	0.22606	T	0.023	0.09832	T	10	0.022537053	0.00565	T	0.002922	0.06192	T	0.060	0.17295	0.302	0.27003	0.242825505644	0.23883	0.10565790387283629	0.10495	0.32879486703	0.34991	0.322991669178	0.13875	T	0.02569	0.19158	T	-0.692193	0.00041	T	-0.797143	0.01975	T	0.0107169794697029	0.00151	T	0.721228	0.33447	T	0.020297097	0.00583	0.028562257	0.01103	0.020297097	0.00583	0.028562257	0.01103	-0.517	0.00594	T	.	.	0.045	0.00052	B	.	.	0.668837	0.10374	7.099	0.94994080317047302	0.25948	0.85511	0.44651	D	AEFDGBI	0.128931	0.24690	N	-0.507047499775556	0.21852	1.162686	-0.368218132075832	0.25950	1.430322	0.999943836966115	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	0.035	0.13504	1.050000	0.30014	-0.992000	0.06676	-0.536000	0.04945	1.000000	0.71638	0.000000	0.08366	0.986000	0.61781	0.6194:0.0:0.3806:0.0	8.963	0.35019	255	0.89985	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	722.43	36	chr17	42989528	.	A	G	722.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.841;DP=375;ExcessHet=0;FS=3.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.881;SOR=0.34	GT:AD:DP:GQ:PL	0/0:29,0:29:87:0,87,1130	9	0	1	0
chr17	43013593	43013593	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon5:c.G493A:p.G165R,IFI35:NM_005533:exon5:c.G499A:p.G167R	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.651	0.101901308569	7.7e-05	0.00219649	0.0007	0	0	0.0030	0	0.0001	0	0.0031	0.0006792	105	154602	rs202144105	0.0003	0.0003	0.0003	0.0004	0.0030	0.0003	0.0003	0.0027	0.0026	0.0001	2.236e-05	0	0.0022	0	0.0010	4.047e-05	0.0015	0.0030	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0	0.0033	0	0	5.881e-05	0.0009	0.0021	0.004	0.68238	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000205	0.47681	D	0.186798	0.999999	0.58761	D	3.27	0.90083	M	-0.26	0.67187	T	-6.91	0.93329	D	0.851	0.84713	0.239	0.86557	D	0.547	0.83388	D	10	0.07743019	0.12220	T	0.101901	0.77505	D	0.651	0.86836	0.895	0.97551	0.827844450224	0.82621	0.8023113194074941	0.80185	0.435705718872	0.43672	0.524693250656	0.42287	T	0.315615	0.68721	T	0.0409711	0.57172	T	0.283025	0.87286	D	0.261908640873331	0.23398	T	0.852615	0.53799	D	0.70661473	0.78421	0.5942137	0.76446	0.70661473	0.78422	0.5942137	0.76447	-7.277	0.56031	T	.	.	0.405	0.62271	A	.;.	.;.	5.126755	0.85775	28.7	0.99921900713786449	0.98787	0.95244	0.63973	D	AEFDGBCI	0.910135	0.86765	D	0.736986946984636	0.82054	7.669186	0.616017809461332	0.76103	6.429718	0.999999997459863	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.93	4.93	0.64394	7.018000	0.76146	9.872000	0.82135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.292000	0.24309	0.0:0.0:1.0:0.0	14.994	0.71068	316	0.87161	Nmi/IFP 35 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1654.43	95	chr17	43013593	.	G	A	1654.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=1248;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.719;SOR=0.757	GT:AD:DP:GQ:PL	0/0:140,0:140:99:0,120,1800	9	0	1	0
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H,IFI35:NM_005533:exon6:c.G578A:p.R193H	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.012228	0.020468	0.050000	0.051724	0.024390	0.018939	0.05	1121.43	49	chr17	43013785	.	G	A	1121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=694;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.45;SOR=0.919	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	9	0	1	0
chr17	43021953	43021953	C	T	exonic	VAT1	.	nonsynonymous SNV	VAT1:NM_006373:exon1:c.G370A:p.G124R	.	372	1142	8	0	0	8	0.0034904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	.	0.00259585	0.0019	0.0001	0	0	0	1.698e-05	0.0039	0.0128	0.0014553	225	154602	rs377221508	0.0008	0.0008	0.0004	0.0011	0.0119	0.0007	0.0007	0.0113	0.0110	0	0	0	0.0001	0	0.0009	8.995e-06	0.0010	0.0119	0.0004	0.0004	0.0003	0.0006	0.0130	0.0004	0.0003	0.0105	0.0095	0	0	0.0001	0	0	0	0	0	0.0014	0.0130	0.026	0.46910	D	0.355	0.29540	T	0.454	0.36182	P	0.515	0.48040	P	0.000072	0.52346	D	0.168530	0.999559	0.81001	D	2.635	0.77114	M	0.84	0.47477	T	-3.06	0.63090	D	0.374	0.41557	-0.7591	0.57455	T	0.173	0.51595	T	10	0.010383159	0.00231	T	.	.	.	0.228	0.52768	0.808	0.92512	0.810640954071	0.80886	0.7867270252943331	0.78624	1.39135005619	0.85010	0.649019122124	0.59847	T	0.127768	0.45501	T	-0.399491	0.02333	T	-0.337222	0.40658	T	0.155232468014804	0.17512	T	0.973903	0.97165	D	0.5365815	0.69204	0.30586016	0.56612	0.5365815	0.69205	0.30586016	0.56611	-10.056	0.74246	D	.	.	0.492	0.66936	A	.;.	.;.	5.350841	0.89758	31	0.99793479443052047	0.87928	0.90065	0.50955	D	AEFDGBHCI	0.904877	0.85571	D	0.255777186668135	0.53924	3.559522	0.296689116216302	0.55345	3.697736	1.0	0.98316	0.733237	0.96898	0	0.748881	0.99253	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	3.84	3.84	0.43422	6.754000	0.74705	5.719000	0.49462	0.522000	0.23927	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:1.0:0.0:0.0	15.528	0.75659	348	0.85549	Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	919.43	34	chr17	43021953	.	C	T	919.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.63;DP=399;ExcessHet=0;FS=6.183;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.281;SOR=1.454	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,878	9	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	883.7	49	chr17	43209576	.	C	T	883.7	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.175;DP=394;ExcessHet=3.8694;FS=226.211;InbreedingCoeff=-0.444;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.48;ReadPosRankSum=0.783;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,12:33:99:0|1:43209572_C_T:157,0,465:43209572	1	0	5	4
chr17	43904456	43904456	G	A	exonic	MPP2	.	nonsynonymous SNV	MPP2:NM_001278370:exon2:c.C140T:p.P47L,MPP2:NM_001278372:exon2:c.C5T:p.P2L,MPP2:NM_005374:exon2:c.C5T:p.P2L,MPP2:NM_001278381:exon3:c.C5T:p.P2L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0364556557318	.	.	8.242e-05	0	0.0002	0	0	7.495e-05	0	0.0002	6.47e-05	10	154602	rs146765164	3.284e-05	3.283e-05	2.178e-05	4.401e-05	0.0002	2.543e-05	2.249e-05	0.0001	0.0001	0	0.0002	0	0	0	0	1.709e-05	6.624e-05	0.0002	3.286e-05	3.283e-05	3.854e-05	2.691e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	0.004	0.68238	D	0.01	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999942	0.81001	D	.	.	.	3.09	0.51952	T	-1.66	0.98311	N	0.748	0.76573	-1.0142	0.25593	T	0.081	0.32119	T	9	0.26201212	0.43665	T	0.036456	0.57003	D	0.173	0.43840	0.375	0.38830	0.706878895572	0.70432	0.14979602481463292	0.14901	0.637688771769	0.57507	0.812275230885	0.83840	D	0.027058	0.23185	T	-0.12219	0.32768	T	-0.117102	0.62039	T	0.0536729954183102	0.06134	T	0.869813	0.58094	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.74270	P	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	4.520951	0.70884	25.6	0.99492256118151001	0.67516	0.96884	0.71464	D	AEFBI	0.665610	0.63436	D	0.0200849375284677	0.42770	2.583232	0.187403856240246	0.49154	3.122231	0.999978903740579	0.50053	0.653281	0.48532	0	0.563428	0.19063	0	0.675528	0.61593	0	0.530356	0.10902	0	.	.	4.9	4.9	0.63643	4.830000	0.62434	11.591000	0.93406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.0:1.0:0.0	13.438	0.60545	596	0.68392	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1442.43	34	chr17	43904456	.	G	A	1442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=421;ExcessHet=0;FS=2.497;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=-0.049;SOR=0.454	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1389	9	0	1	0
chr17	44007339	44007339	C	A	exonic	NAGS	.	nonsynonymous SNV	NAGS:NM_153006:exon5:c.C1113A:p.F371L	N-acetylglutamate synthase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	YES	845484	Inborn_genetic_diseases|Hyperammonemia,_type_III	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009377,MedGen:C0268543,OMIM:237310,Orphanet:927	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.554	0.181997586873	.	.	4.305e-05	0	0	0	0	6.278e-05	0.0012	0	3.23e-05	5	154602	rs755872617	2.942e-05	2.941e-05	2.587e-05	3.301e-05	0.0002	2.217e-05	1.97e-05	2.455e-05	2.143e-05	0	0	0	0	0	0.0002	3.328e-05	8.282e-05	0	1.314e-05	1.313e-05	0	2.691e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.289	0.15047	T	0.0	0.92824	D	0.996	0.68779	D	0.936	0.67150	D	0.000000	0.84330	D	0.000000	0.814858	0.34692	D	1.08	0.27187	L	-2.92	0.91748	D	-0.4	0.13805	N	0.811	0.80669	0.303	0.87606	D	0.694	0.89441	D	10	0.43484622	0.57726	T	0.181998	0.85592	D	0.554	0.81601	0.562	0.68229	0.939439506675	0.93880	0.9322007906061054	0.93199	1.94421044628	0.93273	0.708179473877	0.68329	T	0.494337	0.81752	T	0.193236	0.73261	D	0.225698	0.84459	D	0.358272508197763	0.27342	T	0.823018	0.48339	T	0.4471054	0.63858	0.4276036	0.66500	0.4471054	0.63859	0.4276036	0.66500	-7.753	0.59375	D	0.29017818022092706	0.38663	0.948	0.86679	P	.;.	.;.	4.450734	0.69188	25.3	0.99747755819671191	0.84002	0.85048	0.44150	D	ALL	0.369515	0.45622	N	0.173365892579087	0.49922	3.187484	0.175646164105882	0.48515	3.066508	0.999999998585368	0.74766	0.266657	0.04791	1	0.218748	0.04544	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	5.56	2.02	0.25641	1.137000	0.31091	1.316000	0.25570	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.7144:0.0:0.2856	9.507	0.38218	706	0.57215	Vertebrate-like NAGS Gcn5-related N-acetyltransferase (GNAT) domain;Vertebrate-like NAGS Gcn5-related N-acetyltransferase (GNAT) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.003145	0.000000	0.1	3767.12	33	chr17	44007339	.	C	A	3767.12	.	AC=2;AF=0.1;AN=20;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.2;SOR=0.709	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,974	9	1	0	0
chr17	44036906	44036906	C	G	exonic	LSM12	.	stoploss	LSM12:NM_001369484:exon5:c.G692C:p.X231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488204824	0	2.542e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.005	0.00034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.503312	0.00548	T	-0.960749	0.00230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680105	0.10487	7.202	0.47355120597097311	0.03865	0.05045	0.10832	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.111375921794828	0.16657	0.099367	0.02607	0	0.104858	0.03167	0	0.082826	0.02530	0	0.117559	0.03655	0	0.046875	0.06002	0.69	-0.732	0.10585	0.981000	0.29124	-0.400000	0.09416	-0.453000	0.05137	0.389000	0.26079	0.001000	0.17328	0.002000	0.04165	.	.	.	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	58.86	4	chr17	44036906	.	C	G	58.86	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.068;DP=52;ExcessHet=0;FS=0;InbreedingCoeff=-0.1325;MLEAC=1;MLEAF=0.056;MQ=55.58;MQRankSum=-1.981;QD=8.41;ReadPosRankSum=1.07;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:2,0:2:6:.:.:0,6,67:.	8	0	1	1
chr17	44398604	44398604	T	G	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.A3239C:p.N1080T,GPATCH8:NM_001304939:exon7:c.A3398C:p.N1133T,GPATCH8:NM_001304942:exon7:c.A3239C:p.N1080T,GPATCH8:NM_001002909:exon8:c.A3473C:p.N1158T,GPATCH8:NM_001304941:exon9:c.A3239C:p.N1080T,GPATCH8:NM_001304940:exon10:c.A3239C:p.N1080T	.	415	1105	2	0	0	2	0.000904159	.	.	.	2331834	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00459363609935	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	9.06e-05	14	154602	rs140497485	8.226e-05	8.345e-05	8.189e-05	8.264e-05	0.0011	6.971e-05	6.484e-05	0.0005	0.0003	6.423e-05	0	0.0006	0	1.974e-05	0.0011	7.285e-05	0.0002	5.432e-05	8.544e-05	8.536e-05	0.0001	6.727e-05	0.0002	4.958e-05	3.964e-05	7.911e-05	5.996e-05	0	0	0	0.0003	0	0	0	0.0001	0.0005	0.0002	.	.	.	0.217	0.26145	T	0.1	0.25713	B	0.024	0.20255	B	0.002811	0.35900	N	0.266108	0.902306	0.27676	N	0.625	0.15840	N	2.75	0.11622	T	.	.	.	0.144	0.14480	-0.9580	0.39552	T	0.014	0.05608	T	10	0.010875344	0.00240	T	0.004594	0.11346	T	.	.	0.175	0.08135	0.043077524339	0.03247	0.04341589903936844	0.04286	0.143264612886	0.16165	0.376223146915	0.21721	T	0.023974	0.18205	T	-0.528606	0.00391	T	-0.748773	0.03534	T	0.0120021630221989	0.00189	T	0.473153	0.14076	T	0.032152113	0.03187	0.0422596	0.04993	0.032152113	0.03187	0.0422596	0.04993	-1.509	0.01783	T	.	.	0.064	0.01600	B	.	.	1.222093	0.16158	12.36	0.9836800896449911	0.40719	0.61437	0.31484	D	AEFBCI	0.268530	0.38500	N	-0.720801976129419	0.15438	0.7779972	-0.627021979716169	0.18799	1.005894	0.114723861173872	0.16739	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	1.5	0.22029	-0.325000	0.08019	-0.545000	0.08561	-0.109000	0.15193	0.229000	0.24633	0.000000	0.08366	0.886000	0.42526	0.0:0.2225:0.1433:0.6341	5.076	0.13968	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.005848	0.050000	0.000000	0.000000	0.000000	0.05	1092.43	33	chr17	44398604	.	T	G	1092.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.57;DP=478;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=2.67;SOR=0.608	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1188	9	0	1	0
chr17	44399285	44399285	G	T	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2558A:p.S853Y,GPATCH8:NM_001304939:exon7:c.C2717A:p.S906Y,GPATCH8:NM_001304942:exon7:c.C2558A:p.S853Y,GPATCH8:NM_001002909:exon8:c.C2792A:p.S931Y,GPATCH8:NM_001304941:exon9:c.C2558A:p.S853Y,GPATCH8:NM_001304940:exon10:c.C2558A:p.S853Y	.	422	1096	4	0	0	4	0.00182149	.	.	.	2384833	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.175	0.0132942397881	.	.	6.59e-05	0	0.0002	0.0001	0	7.492e-05	0	0	5.82e-05	9	154602	rs769916673	0.0001	0.0001	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.04e-05	0	0.0003	0.0002	0.0002	5.797e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.148e-05	7.704e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.88e-05	0	0	.	.	.	0.361	0.16914	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.895	0.22405	L	2.24	0.17923	T	.	.	.	0.545	0.57177	-1.1208	0.02282	T	0.074	0.29960	T	10	0.30187577	0.47727	T	0.013294	0.32578	T	.	.	.	.	0.196089822672	0.19227	0.48287026531522875	0.48207	0.182516927808	0.20511	0.770769417286	0.77541	T	0.031656	0.22138	T	-0.324455	0.06540	T	-0.375873	0.36204	T	0.118316092778163	0.14264	T	0.845715	0.52486	T	0.1874165	0.40195	0.24053971	0.49430	0.1874165	0.40195	0.24053971	0.49429	-7.83	0.59906	D	.	.	0.401	0.59606	A	.	.	3.425556	0.47581	22.5	0.96334878423215153	0.29460	0.98432	0.82716	D	AEFDGBCI	0.858202	0.77568	D	0.593819984953509	0.72786	5.86115	0.628903181532153	0.77049	6.604984	0.999999999030967	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.913000	0.92296	9.975000	0.82886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	18.529	0.90936	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3283.43	191	chr17	44399285	.	G	T	3283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.928;DP=610;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=2.23;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1039:.	9	0	1	0
chr17	44399286	44399286	A	C	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.T2557G:p.S853A,GPATCH8:NM_001304939:exon7:c.T2716G:p.S906A,GPATCH8:NM_001304942:exon7:c.T2557G:p.S853A,GPATCH8:NM_001002909:exon8:c.T2791G:p.S931A,GPATCH8:NM_001304941:exon9:c.T2557G:p.S853A,GPATCH8:NM_001304940:exon10:c.T2557G:p.S853A	.	422	1096	4	0	0	4	0.00182149	.	.	.	2384832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.193	0.0113018479743	.	.	5.766e-05	0	0.0002	0.0001	0	5.993e-05	0	0	4.53e-05	7	154602	rs775499902	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0	0.0004	0	5.039e-05	0	0.0003	0.0001	9.936e-05	3.478e-05	0.0001	0.0001	0.0001	0.0001	0.0007	9.152e-05	7.707e-05	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0	5.881e-05	0	0	.	.	.	0.315	0.19421	T	0.994	0.66517	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	0.999684	0.48270	D	0.895	0.22405	L	2.31	0.16794	T	.	.	.	0.402	0.44283	-1.1044	0.03598	T	0.067	0.27502	T	10	0.17827883	0.32905	T	0.011302	0.28784	T	.	.	.	.	0.317526407968	0.31361	0.3482024930364699	0.34734	0.116023652357	0.13085	0.708764433861	0.68415	T	0.029253	0.21004	T	-0.337626	0.05555	T	-0.394792	0.33991	T	0.167987549545225	0.18443	T	0.639136	0.25234	T	0.15062582	0.34281	0.1378453	0.32937	0.15062582	0.34281	0.1378453	0.32936	-9.605	0.71510	D	.	.	0.138	0.30264	B	.	.	3.717720	0.53105	23.3	0.98555614829814797	0.42909	0.98343	0.81823	D	AEFDGBCI	0.768567	0.70409	D	0.505346577544509	0.67405	5.07732	0.539482545541705	0.70668	5.539291	0.999999291197819	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.324000	0.89919	9.384000	0.80535	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	1.0:0.0:0.0:0.0	14.896	0.70286	511	0.75131	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3283.43	191	chr17	44399286	.	A	C	3283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.135;DP=609;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.19;ReadPosRankSum=2.14;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1039:.	9	0	1	0
chr17	44399973	44399973	C	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.G1870T:p.A624S,GPATCH8:NM_001304939:exon7:c.G2029T:p.A677S,GPATCH8:NM_001304942:exon7:c.G1870T:p.A624S,GPATCH8:NM_001002909:exon8:c.G2104T:p.A702S,GPATCH8:NM_001304941:exon9:c.G1870T:p.A624S,GPATCH8:NM_001304940:exon10:c.G1870T:p.A624S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0115334771582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.782	0.04302	T	0.044	0.21686	B	0.014	0.16862	B	0.149291	0.18022	N	0.621093	1	0.08975	N	0.345	0.11182	N	2.75	0.11622	T	.	.	.	0.106	0.09066	-0.9088	0.47001	T	0.006	0.01907	T	10	0.040855944	0.02690	T	0.011533	0.29247	T	.	.	0.246	0.18139	0.082315109003	0.07666	0.06779905791251553	0.06717	0.179806875035	0.20224	0.317229568958	0.13001	T	0.014093	0.12064	T	-0.296674	0.08977	T	-0.663928	0.08003	T	0.0210196919922205	0.00803	T	0.719828	0.33277	T	0.037167974	0.04714	0.053382456	0.08982	0.037167974	0.04713	0.053382456	0.08982	-2.425	0.05288	T	.	.	0.081	0.08368	B	.	.	1.518715	0.19502	14.29	0.68171566178604404	0.08577	0.33947	0.24951	N	AEFBCI	0.167206	0.29385	N	-0.905066518599619	0.10722	0.5137984	-0.836451028035589	0.13614	0.7071725	0.110125046787869	0.16624	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.21	1.89	0.24700	0.168000	0.16438	0.833000	0.21967	0.599000	0.40250	0.002000	0.15269	0.980000	0.30356	0.033000	0.13494	0.0:0.6906:0.0:0.3094	10.951	0.46542	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2829.43	40	chr17	44399973	.	C	A	2829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.47;DP=612;ExcessHet=0;FS=1.488;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.147;SOR=0.693	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1039	9	0	1	0
chr17	44736833	44736833	A	C	exonic	DBF4B	.	nonsynonymous SNV	DBF4B:NM_025104:exon8:c.A634C:p.T212P,DBF4B:NM_145663:exon8:c.A634C:p.T212P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00413421720564	.	.	1.647e-05	0	0	0	0.0002	1.498e-05	0	0	1.29e-05	2	154602	rs765238899	2.394e-05	2.394e-05	2.178e-05	2.613e-05	8.993e-06	1.739e-05	1.539e-05	4.55e-06	3.32e-06	0	0	0.0003	0	0.0002	0	8.993e-06	4.968e-05	0	4.6e-05	4.596e-05	1.285e-05	8.07e-05	2.94e-05	2.109e-05	1.527e-05	4.88e-06	1.83e-06	0	0	0	0	0	0.0005	0	2.94e-05	0	0	0.206	0.30943	T	0.226	0.39954	T	0.983	0.67487	D	0.804	0.60866	P	0.069325	0.21612	N	0.423083	0.998175	0.58761	D	1.525	0.38595	L	2.67	0.12473	T	-1.15	0.29525	N	0.269	0.30461	-1.1138	0.02763	T	0.054	0.22693	T	10	0.085032165	0.14314	T	0.004134	0.09900	T	0.059	0.16972	0.242	0.17524	0.275641507738	0.27180	0.2929046838125043	0.29203	0.224819397951	0.25018	0.36115655303	0.19554	T	0.004151	0.03562	T	-0.258263	0.13103	T	-0.545108	0.17798	T	0.0869246795773506	0.10849	T	0.516848	0.16688	T	0.12203316	0.28685	0.09893516	0.23603	0.12203316	0.28685	0.09893516	0.23602	-2.758	0.08369	T	.	.	0.070	0.12750	B	.;.	.;.	1.511240	0.19414	14.25	0.52029826890848718	0.04672	0.09195	0.15000	N	AEFBI	0.091982	0.18626	N	-0.318494794683245	0.28447	1.569045	-0.467086684409934	0.23066	1.256011	0.00193053450497162	0.09011	0.719381	0.83141	0	0.636889	0.57051	0	0.723133	0.82415	0	0.683762	0.67416	0	.	.	4.94	1.49	0.21966	0.354000	0.19885	1.230000	0.25036	-0.050000	0.17177	0.269000	0.25036	0.103000	0.22699	0.592000	0.31189	0.7097:0.0:0.2903:0.0	6.652	0.22159	485	0.77085	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1300.43	34	chr17	44736833	.	A	C	1300.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.86;DP=466;ExcessHet=0;FS=1.306;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=0.202;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	9	0	1	0
chr17	44904739	44904739	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C910T:p.R304C	.	422	1087	13	0	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0490911598561	.	0.00159744	0.0019	0	0	0	0	0.0002	0	0.0037	0.0002587	40	154602	rs139603380	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0041	0.0002	0.0002	7.942e-05	0	4.154e-05	0.0019	0.0001	0.0006	0.0046	0.0003	0.0003	0.0003	0.0003	0.0044	0.0002	0.0002	0.0029	0.0024	0.0001	0	0.0001	0.0006	0	0	0	0.0002	0.0005	0.0044	0.015	0.52492	D	0.059	0.45961	T	0.476	0.36665	P	0.083	0.29179	B	0.122688	0.02739	N	1.573310	0.999895	0.19781	N	0.69	0.16971	N	-1.32	0.79761	T	-1.45	0.35597	N	0.234	0.26354	-0.7014	0.60371	T	0.281	0.65340	T	9	0.0036002994	0.00065	T	0.049091	0.63663	D	0.257	0.56827	.	.	0.568072681961	0.56471	0.7543271551056124	0.75379	.	.	0.230092704296	0.01974	T	0.010213	0.09245	T	-0.404001	0.02179	T	-0.352829	0.38881	T	0.0234004950594496	0.01071	T	0.785921	0.42389	T	0.068806075	0.15022	0.051765125	0.08396	0.068806075	0.15021	0.051765125	0.08396	-9.604	0.71504	D	.	.	0.146	0.32251	B	.	.	1.980709	0.25162	16.66	0.96593613898108799	0.30380	0.02036	0.06099	N	AEFGBI	.	.	.	-0.873402456321638	0.11479	0.5541187	-0.975331033880207	0.10341	0.5202135	0.99999794474973	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.07	-5.82	0.02141	-0.222000	0.09195	-1.148000	0.06189	-0.950000	0.02036	0.000000	0.06391	0.000000	0.08366	0.540000	0.29938	0.6469:0.1182:0.1665:0.0684	7.528	0.26837	764	0.49969	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1577.43	34	chr17	44904739	.	C	T	1577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=972;ExcessHet=0;FS=0.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.316;SOR=0.605	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	9	0	1	0
chr17	44904956	44904956	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C1127T:p.S376L	.	425	1033	62	2	0	66	0.0309568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	0.00259585	0.0091	0.0011	0.0068	0	0	0.0013	0.0146	0.0181	0.0013713	212	154602	rs555402721	0.0023	0.0022	0.0017	0.0028	0.0176	0.0022	0.0022	0.0168	0.0165	0.0002	0.0009	0.0004	2.798e-05	0.0007	0.0114	0.0013	0.0028	0.0176	0.0016	0.0016	0.0014	0.0019	0.0172	0.0015	0.0014	0.0142	0.0131	0.0002	0	0.0023	0	0.0002	0.0004	0.0170	0.0016	0.0043	0.0172	0.465	0.08609	T	0.62	0.07444	T	0.103	0.25884	B	0.01	0.14941	B	0.369594	0.04354	N	1.395560	1	0.08975	N	1.7	0.43825	L	0.97	0.42502	T	-1.04	0.27259	N	0.175	0.18784	-1.0236	0.22541	T	0.051	0.21883	T	9	0.004670471	0.00098	T	.	.	.	0.069	0.20116	.	.	0.447609009685	0.44385	0.5473808828241131	0.54664	.	.	0.285807311535	0.08314	T	0.008464	0.07774	T	-0.616405	0.00116	T	-0.64392	0.09385	T	0.0016297578096169	0.00017	T	0.733627	0.34942	T	0.042301055	0.06391	0.033432566	0.02237	0.042301055	0.06391	0.033432566	0.02236	-2.481	0.05653	T	.	.	0.094	0.14523	B	.	.	1.401737	0.18160	13.58	0.63598281148254254	0.07266	0.13302	0.17779	N	AEFDGBHCI	.	.	.	-0.809649728053484	0.13063	0.6409545	-0.827799331297762	0.13823	0.7191289	0.999999166461778	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.54	2.32	0.27895	0.358000	0.19952	2.301000	0.32018	0.599000	0.40250	0.000000	0.06391	0.011000	0.20116	0.043000	0.14563	0.2172:0.4511:0.0:0.3317	4.057	0.09301	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1947.43	34	chr17	44904956	.	C	T	1947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.582;DP=517;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.612;SOR=0.523	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,105,1575	9	0	1	0
chr17	44928506	44928506	C	T	exonic	KIF18B	.	nonsynonymous SNV	KIF18B:NM_001264573:exon13:c.G1832A:p.R611Q,KIF18B:NM_001265577:exon13:c.G1796A:p.R599Q	.	418	1100	4	0	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0289116741516	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs199951508	9.761e-05	9.85e-05	0.0001	8.811e-05	0.0024	8.374e-05	7.878e-05	0.0014	0.0011	9.95e-05	0	0.0005	0.0001	3.026e-05	0.0024	7.364e-05	0.0003	5.583e-05	0.0001	0.0001	0.0002	9.405e-05	0.0002	8.167e-05	6.724e-05	0.0001	7.898e-05	4.816e-05	0	0	0.0006	0.0002	0	0	0.0002	0.0005	0.0002	.	.	.	0.885	0.03507	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	-0.76	0.73845	T	.	.	.	0.106	0.13198	-0.9215	0.45348	T	0.110	0.39747	T	9	0.015760124	0.00331	T	0.028912	0.51509	D	.	.	0.178	0.08503	0.281381271821	0.27740	0.10233159312443096	0.10163	0.254992952433	0.28080	0.19669085741	0.00367	T	0.002456	0.01964	T	-0.392814	0.02579	T	-0.542347	0.18067	T	0.042464941740036	0.04139	T	0.650635	0.26150	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.03231	B	.;.;.	.;.;.	-0.522220	0.01798	0.139	0.47454771626938702	0.03881	0.01351	0.04634	N	AEFDBCI	0.034148	0.04181	N	-1.69247472992781	0.00869	0.03759355	-1.67334032044824	0.01260	0.0567933	0.595013648115011	0.21678	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	-5.52	0.02358	-0.723000	0.05056	-0.857000	0.07156	-1.680000	0.00787	0.001000	0.13787	0.000000	0.08366	0.021000	0.11733	0.0:0.5906:0.0:0.4094	13.152	0.58912	738	0.53389	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003941	0.000000	0.004747	0.009202	0.050000	0.000000	0.000000	0.000000	0.05	1190.43	34	chr17	44928506	.	C	T	1190.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.316;DP=413;ExcessHet=0;FS=1.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=0.291;SOR=0.909	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1131	9	0	1	0
chr17	45437863	45437863	C	T	exonic	PLEKHM1	.	nonsynonymous SNV	PLEKHM1:NM_014798:exon12:c.G3166A:p.A1056T	Osteopetrosis, autosomal recessive 6	0	1507	14	1	0	16	0.00528053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0245794652315	.	0.00139776	0.0011	0	8.69e-05	0	0	0	0.0045	0.0074	0.0008667	134	154602	rs571630488	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0057	0.0056	0	0	0	2.519e-05	0	0.0003	2.609e-05	0.0005	0.0062	0.0002	0.0002	7.706e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	0	0.0005	0.0060	0.584	0.05918	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.722859	0.06324	N	1.146690	1	0.08975	N	-0.69	0.01958	N	-0.1	0.64264	T	0.9	0.01618	N	0.038	0.01203	-1.0030	0.29050	T	0.050	0.21143	T	10	0.0045495033	0.00094	T	0.024579	0.47567	T	0.050	0.13987	0.37	0.38013	0.361328159215	0.35739	0.28945816570426874	0.28858	0.691066777094	0.60568	0.337154626846	0.16012	T	0.024428	0.18459	T	-0.619713	0.00110	T	-0.658806	0.08347	T	0.347350627183914	0.26914	T	.	.	.	0.01327628	0.00054	0.0359155	0.02936	0.01327628	0.00054	0.0359155	0.02936	-3.047	0.10696	T	.	.	0.069	0.03128	B	.	.	-0.197882	0.03100	0.491	0.91814158263898071	0.21121	0.00742	0.03097	N	AEFDBHCIJ	0.028162	0.02430	N	-1.89139836838618	0.00358	0.01536147	-1.84159309856747	0.00635	0.02821608	0.999999292072936	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.26897	0.05253	2	0.714379	0.83352	0	.	.	4.82	-3.87	0.03939	-0.059000	0.11688	-0.664000	0.07966	-0.834000	0.02848	0.210000	0.24424	0.000000	0.08366	0.000000	0.00833	0.1387:0.4219:0.0:0.4395	5.714	0.17221	368	0.84463	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000531	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1295.43	34	chr17	45437863	.	C	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.155;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=3.01;SOR=0.767	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1039	9	0	1	0
chr17	45846168	45846168	C	G	exonic	SPPL2C	.	nonsynonymous SNV	SPPL2C:NM_175882:exon1:c.C1262G:p.P421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.544	0.0270219490642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.001242	0.39669	N	0.000000	1	0.81001	D	3.76	0.95097	H	0.12	0.61089	T	-8.65	0.97547	D	0.905	0.90590	0.224	0.86312	D	0.506	0.81377	D	10	0.98465145	0.98672	D	0.027022	0.49875	D	0.544	0.81018	0.864	0.95995	0.705773429643	0.70321	0.7190580348023236	0.71848	0.570105786278	0.53176	0.529340922832	0.42941	T	0.214801	0.57648	T	0.32338	0.84711	D	0.226736	0.84510	D	0.997812867164612	0.92489	D	0.975769	0.91515	D	0.80553246	0.84261	0.8487671	0.91422	0.80553246	0.84263	0.8487671	0.91423	-12.186	0.85745	D	.	.	0.867	0.80682	P	.	.	4.536909	0.71281	25.6	0.99760727062023091	0.85011	0.95091	0.63404	D	AEFBI	0.498601	0.53263	N	0.708799881749221	0.80211	7.244	0.574350545561274	0.73106	5.916613	0.999993968468925	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	5.344000	0.65751	5.917000	0.51107	-0.224000	0.07868	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	16.204	0.81926	618	0.66225	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3855.43	33	chr17	45846168	.	C	G	3855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.088;DP=1220;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=2.28;SOR=0.682	GT:AD:DP:GQ:PL	0/0:162,0:162:99:0,120,1800	9	0	1	0
chr17	46067549	46067549	G	A	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon5:c.C1652T:p.T551I,KANSL1:NM_015443:exon5:c.C1652T:p.T551I,KANSL1:NM_001193465:exon6:c.C1652T:p.T551I,KANSL1:NM_001379198:exon6:c.C1652T:p.T551I	Koolen-De Vries syndrome, Autosomal dominant	3	1518	1	0	0	1	0.000329272	0.0082	0.082	YES	376119	not_provided|not_specified|Koolen-de_Vries_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012496,MedGen:C1864871,OMIM:610443,Orphanet:96169	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.032	0.0115738278123	.	.	0.0003	0	0.0030	0	0	4.496e-05	0.0011	0	0.0002587	40	154602	rs778178483	7.954e-05	7.74e-05	9.176e-05	6.733e-05	0.0015	6.728e-05	6.289e-05	0.0012	0.0011	0	0.0015	0	0	0	0	3.423e-05	0.0001	0	3.944e-05	3.941e-05	5.141e-05	2.691e-05	0.0004	1.716e-05	1.13e-05	0.0002	0.0001	0	0	0.0004	0	0	0	0	0	0	0	0.074	0.34621	T	0.143	0.38160	T	.	.	.	.	.	.	0.015302	0.28282	N	0.414164	1	0.81001	D	.	.	.	0.89	0.45636	T	-1.67	0.39887	N	0.518	0.55106	-1.1044	0.03598	T	0.052	0.22114	T	9	0.013761759	0.00291	T	0.011574	0.29327	T	0.032	0.07718	0.274	0.22528	0.117191471859	0.11215	0.48463193866998194	0.48383	0.516667203	0.49549	0.46329960227	0.33763	T	.	.	.	-0.448382	0.01155	T	-0.45738	0.26884	T	0.0248115787521781	0.01248	T	0.878412	0.61048	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.51341	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.346942	0.46141	22.3	0.99333349918954461	0.59856	0.94770	0.62270	D	AEFBI	0.272466	0.38809	N	-0.152775370061714	0.35115	2.013016	-0.0532126920741563	0.37352	2.185828	0.447617493224262	0.20510	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.23	3.13	0.35090	2.157000	0.41946	4.028000	0.41312	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.885000	0.42453	0.0:0.1691:0.6677:0.1632	8.954	0.34965	405	0.82444	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	535.43	38	chr17	46067549	.	G	A	535.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=387;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=0.789;SOR=0.534	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1216	9	0	1	0
chr17	46171732	46171732	G	T	exonic	KANSL1	.	nonsynonymous SNV	KANSL1:NM_001193466:exon2:c.C412A:p.L138I,KANSL1:NM_015443:exon2:c.C412A:p.L138I,KANSL1:NM_001193465:exon3:c.C412A:p.L138I,KANSL1:NM_001379198:exon3:c.C412A:p.L138I	Koolen-De Vries syndrome, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00935574776519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.208e-06	4.104e-06	2.783e-06	5.656e-06	0.0005	1.51e-06	9.9e-07	0.0001	7.857e-05	3.176e-05	0	0	0	0	0.0005	9.112e-07	1.704e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36113	T	0.087	0.40747	T	.	.	.	.	.	.	0.000383	0.44960	D	0.147353	1	0.81001	D	.	.	.	2.68	0.12371	T	-0.98	0.25986	N	0.167	0.18376	-1.0399	0.17343	T	0.021	0.08639	T	10	0.13124296	0.24978	T	0.009356	0.24553	T	0.039	0.10176	0.169	0.07419	0.138757226776	0.13463	0.14938984815313766	0.14860	0.0226149863449	0.02283	0.644986510277	0.59273	T	.	.	.	-0.151699	0.28045	T	-0.455681	0.27070	T	0.527356803417206	0.33636	D	0.760024	0.39305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.19518	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.075069	0.41348	21.3	0.92163429794498986	0.21526	0.89290	0.49665	D	AEFBCI	0.484509	0.52449	N	-0.286740233897158	0.29659	1.646757	-0.110916402179087	0.34949	2.016218	0.9935509940591	0.33262	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.74	2.37	0.28337	2.727000	0.46981	3.594000	0.39199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1579:0.0:0.7009:0.1411	7.785	0.28253	169	0.93437	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1516.43	96	chr17	46171732	.	G	T	1516.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.466;DP=606;ExcessHet=0;FS=0.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=0.173;SOR=0.799	GT:AD:DP:GQ:PL	0/0:112,0:112:99:0,120,1800	9	0	1	0
chr17	46555363	46555363	C	T	exonic	LRRC37A2	.	nonsynonymous SNV	LRRC37A2:NM_001006607:exon13:c.C4993T:p.H1665Y	.	450	1067	4	1	0	6	0.00280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00725468051546	0.0011	0.000798722	0.0015	0.0006	0.0027	0	0	0.0019	0.0048	0.0011	0.001229	190	154602	rs199645771	0.0014	0.0014	0.0013	0.0014	0.0042	0.0013	0.0013	0.0029	0.0025	0.0003	0.0031	0.0006	0	0.0005	0.0042	0.0014	0.0014	0.0009	0.0008	0.0010	0.0008	0.0009	0.0021	0.0007	0.0007	0.0015	0.0013	0.0003	0	0.0021	0.0015	0	0	0	0.0010	0.0026	0.0005	0.124	0.27426	T	0.035	0.52389	D	0.108	0.26116	B	0.029	0.21540	B	.	.	.	.	0.999999	0.08975	N	0.345	0.11182	N	0.36	0.57880	T	-0.05	0.07736	N	0.266	0.33904	-1.0594	0.11905	T	0.049	0.20711	T	9	0.007635802	0.00173	T	0.007255	0.19225	T	0.018	0.03083	.	.	0.0297737177859	0.01360	0.04695057931023808	0.04638	.	.	0.784309983253	0.79578	T	8.69E-4	0.00434	T	-0.549179	0.00295	T	-0.567182	0.15709	T	0.00201111159949478	0.00021	T	0.542646	0.18460	T	0.029213008	0.02380	0.04292633	0.05224	0.029213008	0.02380	0.04292633	0.05224	-3.155	0.11939	T	.	.	0.093	0.14385	B	.;.	.;.	0.274485	0.06519	3.000	0.47561332796159067	0.03898	0.00365	0.01864	N	AEFI	0.030804	0.03169	N	-1.21962863781778	0.04716	0.2134301	-1.3248052774783	0.04112	0.193259	1.8955469769915E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	2.05	-2.0	0.07024	0.211000	0.17268	-0.315000	0.10009	-2.074000	0.00407	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.0:0.4513:0.2308:0.3179	3.070	0.05851	458	0.78890	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001935	0.000000	0.001412	0.000000	0.000000	0.000000	0.007874	0.000000	0.1	3486.14	39	chr17	46555363	.	C	T	3486.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.219;DP=1074;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=41.68;MQRankSum=-2.323;QD=5.27;ReadPosRankSum=-1.174;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,107:454:99:0|1:46555363_C_T:1676,0,10114:46555363	8	0	2	0
chr17	46872579	46872579	A	G	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.A140G:p.Q47R,WNT9B:NM_003396:exon2:c.A140G:p.Q47R	.	420	1079	20	3	0	26	0.0119048	.	.	.	1630578	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.128	.	0.0044	0.00339457	0.0075	0.0009	0.0017	0	0.0259	0.0068	0.0136	0.0167	0.0064035	990	154602	rs118185468	0.0065	0.0065	0.0063	0.0067	0.0128	0.0064	0.0063	0.0122	0.0119	0.0005	0.0018	0.0017	2.538e-05	0.0230	0.0079	0.0059	0.0059	0.0128	0.0054	0.0054	0.0048	0.0061	0.0128	0.0051	0.0050	0.0103	0.0093	0.0010	0	0.0011	0.0035	0	0.0231	0	0.0065	0.0038	0.0128	0.134	0.29688	T	0.476	0.30143	T	0.072	0.23997	B	0.023	0.19966	B	0.082512	0.20804	N	0.507715	0.858057	0.28398	N	1.895	0.50365	L	-1.39	0.80387	T	-0.69	0.19720	N	0.141	0.14763	-0.7710	0.56803	T	0.247	0.61635	T	10	0.005423963	0.00119	T	.	.	.	0.128	0.35103	.	.	0.900307032389	0.89931	0.5040463843694573	0.50326	0.299722776496	0.32340	0.550557017326	0.45935	T	0.268256	0.64036	T	-0.399512	0.02332	T	-0.334971	0.40912	T	0.00942075269797112	0.00121	T	.	.	.	0.06629579	0.14250	0.096777566	0.23008	0.06629579	0.14250	0.096777566	0.23008	-3.213	0.12640	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	1.602473	0.20483	14.77	0.91943365196778426	0.21270	0.78732	0.38889	D	AEFDBI	0.143800	0.26660	N	-0.470793134273499	0.23042	1.234558	-0.423063799552568	0.24321	1.331227	0.581956077750406	0.21578	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	1.500000	0.35290	5.610000	0.49052	0.751000	0.87719	0.054000	0.21560	1.000000	0.68203	0.025000	0.12405	0.8506:0.1494:0.0:0.0	11.516	0.49771	444	0.79803	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004040	0.000000	0.002717	0.000000	0.000000	0.000000	0.003067	0.026718	0.05	1049.43	35	chr17	46872579	.	A	G	1049.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.432;DP=425;ExcessHet=0;FS=0.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-1.227;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	9	0	1	0
chr17	46872588	46872588	C	T	exonic	WNT9B	.	nonsynonymous SNV	WNT9B:NM_001320458:exon2:c.C149T:p.A50V,WNT9B:NM_003396:exon2:c.C149T:p.A50V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.033731370638	.	.	3.548e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs780934556	1.441e-05	1.71e-05	4.094e-06	2.483e-05	0.0002	9.26e-06	7.86e-06	0.0001	0.0001	0	2.252e-05	0	0	0	0	0	4.982e-05	0.0002	6.57e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.021	0.65419	D	0.037	0.63918	D	0.02	0.27209	B	0.007	0.18140	B	0.004994	0.33199	N	0.286492	0.999424	0.47006	D	2.215	0.62545	M	-1.52	0.81478	D	-1.64	0.39314	N	0.131	0.13341	-0.4386	0.70777	T	0.341	0.70721	T	10	0.18024266	0.33199	T	0.033731	0.55185	D	0.188	0.46444	0.322	0.30226	0.807569245266	0.80577	0.5605535382979216	0.55982	0.262269360027	0.28792	0.593218743801	0.51948	T	0.335207	0.70486	T	-0.216499	0.18473	T	-0.284334	0.46359	T	0.0799966158679666	0.09986	T	.	.	.	0.0803275	0.18400	0.114290446	0.27588	0.0803275	0.18400	0.114290446	0.27587	-5.546	0.42296	T	.	.	0.085	0.10208	B	.;.;.	.;.;.	2.447206	0.31507	18.76	0.99926642013365674	0.99103	0.68037	0.33652	D	AEFDBI	0.496544	0.53144	N	-0.383008220435297	0.26075	1.420259	-0.349899771560938	0.26512	1.46488	0.248349945164727	0.18652	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.48	3.51	0.39297	0.391000	0.20511	1.947000	0.29863	0.596000	0.33519	0.028000	0.20300	0.988000	0.31051	0.454000	0.27984	0.0:0.7814:0.1401:0.0785	9.814	0.40008	444	0.79803	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	967.43	35	chr17	46872588	.	C	T	967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.116;DP=421;ExcessHet=0;FS=2.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.435;SOR=0.439	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	9	0	1	0
chr17	47361422	47361422	C	T	exonic	EFCAB13	.	stopgain	EFCAB13:NM_152347:exon10:c.C706T:p.R236X	.	431	1062	27	2	0	31	0.0143852	.	.	.	3192602	EFCAB13-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	.	.	0.0075	0.00339457	0.0077	0.0024	0.0079	0.0003	0.0065	0.0112	0.0066	0.0012	0.0076519	1183	154602	rs78865644	0.0097	0.0097	0.0098	0.0096	0.0125	0.0096	0.0095	0.0109	0.0109	0.0018	0.0083	0.0136	0.0003	0.0059	0.0125	0.0111	0.0088	0.0012	0.0077	0.0077	0.0081	0.0074	0.0124	0.0074	0.0072	0.0110	0.0104	0.0019	0.0187	0.0124	0.0147	0.0010	0.0062	0.0103	0.0106	0.0204	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.757225	0.09652	N	0.836029	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.149	0.15187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178511	0.71906	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.038640	0.97114	37	0.99557563353057499	0.71583	0.46490	0.27771	N	AEFDBI	0.122007	0.23694	N	0.175533014441431	0.50026	3.196723	-0.0692286709326317	0.36669	2.136995	2.63050267202011E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	3.78	1.68	0.23219	1.498000	0.35268	0.440000	0.18415	-0.257000	0.07002	0.959000	0.33545	0.000000	0.08366	0.553000	0.30245	0.221:0.6593:0.0:0.1197	4.419	0.10897	540	0.73006	.	.	.	.	.	rs78865644	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.030303	0.013587	0.017544	0.000000	0.008621	0.009146	0.003788	0.05	1392.43	125	chr17	47361422	.	C	T	1392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=434;ExcessHet=0;FS=1.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.465;SOR=0.632	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1140	9	0	1	0
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T,SNX11:NM_013323:exon7:c.C661A:p.P221T,SNX11:NM_152244:exon8:c.C661A:p.P221T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	139.14	34	chr17	48121356	.	C	A	139.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.563;DP=696;ExcessHet=0.2348;FS=63.638;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=-0.031;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:115,12:127:32:0|1:48121356_C_A:0,32,4669:48121356	8	0	2	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H,SNX11:NM_013323:exon7:c.C662A:p.P221H,SNX11:NM_152244:exon8:c.C662A:p.P221H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	139.14	34	chr17	48121357	.	C	A	139.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.435;DP=694;ExcessHet=0.2348;FS=63.638;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.045;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:115,12:127:32:0|1:48121356_C_A:0,32,4669:48121356	8	0	2	0
chr17	48550866	48550866	G	A	exonic	HOXB3	.	nonsynonymous SNV	HOXB3:NM_001384747:exon3:c.C764T:p.S255L,HOXB3:NM_001384750:exon4:c.C545T:p.S182L,HOXB3:NM_002146:exon4:c.C764T:p.S255L,HOXB3:NM_001330322:exon5:c.C545T:p.S182L,HOXB3:NM_001330323:exon5:c.C368T:p.S123L,HOXB3:NM_001384749:exon5:c.C764T:p.S255L	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.397452915372	.	.	0.0003	0	0	0	0	0	0	0.0024	0.0002717	42	154602	rs368031900	0.0002	0.0002	8.985e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0002	5.396e-06	0.0001	0.0028	6.571e-05	6.562e-05	5.142e-05	8.066e-05	0.0014	3.517e-05	2.616e-05	0.0007	0.0005	0	0	0	0	0.0002	0	0	2.941e-05	0	0.0014	0.008	0.65419	D	0.046	0.49120	D	1.0	0.90584	D	0.92	0.65550	D	0.001649	0.38382	N	0.218239	0.996256	0.81001	D	2.265	0.64440	M	-2.14	0.86415	D	-5.53	0.86073	D	0.327	0.56231	0.581	0.91642	D	0.749	0.91451	D	10	0.040641695	0.02650	T	0.397453	0.93324	D	0.510	0.78971	0.19	0.10039	0.864432927957	0.86311	0.7290673046364622	0.72851	1.16406806976	0.79569	0.807307004929	0.83078	D	0.656965	0.89658	D	-0.32883	0.06201	T	-0.249109	0.49905	T	0.23703171551193	0.22282	T	0.926807	0.79107	D	0.2946888	0.52425	0.33654857	0.59456	0.2946888	0.52424	0.33654857	0.59455	-6.995	0.59927	T	.	.	0.298	0.52793	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.840128	0.93776	33	0.99870013620955844	0.94815	0.95557	0.65196	D	AEFDBHCI	.	.	.	0.551049406158401	0.70145	5.458893	0.431368620957097	0.63529	4.588468	0.999999685903574	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.596491	0.31596	0	0.714379	0.83352	0	.	.	3.66	2.68	0.30839	7.819000	0.84757	11.643000	0.93808	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.091:0.0:0.909:0.0	11.230	0.48135	572	0.70300	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1900.43	35	chr17	48550866	.	G	A	1900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.883;DP=474;ExcessHet=0;FS=8.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=1.46;SOR=1.418	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1114	9	0	1	0
chr17	48804989	48804989	C	-	exonic	TTLL6	.	frameshift deletion	TTLL6:NM_001130918:exon2:c.106delG:p.A36Pfs*48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1352.39	36	chr17	48804988	.	GC	G	1352.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.8;DP=429;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.53;ReadPosRankSum=0.623;SOR=0.626	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,860	9	0	1	0
chr17	49049420	49049425	CCAGGC	-	exonic	IGF2BP1	.	nonframeshift deletion	IGF2BP1:NM_001160423:exon13:c.1293_1298del:p.Q434_A435del,IGF2BP1:NM_006546:exon15:c.1710_1715del:p.Q573_A574del	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.766e-05	8.718e-05	0	0.0002	0.0003	0	0.0011	3.84e-05	1	26028	rs761658543	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0	8.944e-05	0.0011	0	5.617e-05	0.0009	0.0003	0.0005	0.0011	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.216e-05	0	0.0003	0.0017	0	0	0	0.0005	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1743.39	33	chr17	49049419	.	ACCAGGC	A	1743.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.475;DP=389;ExcessHet=0;FS=1.951;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=-0.569;SOR=0.459	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1246	9	0	1	0
chr17	49578690	49578690	G	A	exonic	NXPH3	.	nonsynonymous SNV	NXPH3:NM_007225:exon2:c.G149A:p.R50Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00465546267138	7.7e-05	.	2.546e-05	0	0	0	0	4.642e-05	0	0	1.94e-05	3	154602	rs144280216	1.438e-05	1.505e-05	1.09e-05	1.789e-05	1.799e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	3.831e-05	0	0	0	1.799e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.44694	T	0.249	0.43721	T	0.868	0.64738	P	0.194	0.53781	B	0.007749	0.31217	N	0.310331	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.18	0.11913	N	0.196	0.35620	-1.0763	0.08083	T	0.040	0.17277	T	9	0.12263742	0.23268	T	0.004655	0.11534	T	0.095	0.27398	.	.	0.082315109003	0.07666	0.3154458979710116	0.31457	0.755441468755	0.63989	0.513851523399	0.40762	T	0.111653	0.42731	T	-0.173543	0.24701	T	-0.377	0.36073	T	0.607381105422974	0.36695	D	0.871313	0.57716	D	0.07144765	0.15819	0.050324	0.07875	0.07144765	0.15819	0.050324	0.07875	-4.149	0.26009	T	.	.	0.097	0.19154	B	.;.	.;.	5.075961	0.84686	28.4	0.9990968611247375	0.97949	0.03937	0.09332	N	AEFDGBI	0.038737	0.05526	N	-0.13048098039859	0.36068	2.080013	-0.0528691402608544	0.37367	2.186904	0.999823002438496	0.43622	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.55	4.55	0.55429	2.179000	0.42157	11.826000	0.97381	0.674000	0.70861	0.961000	0.33663	1.000000	0.68203	0.998000	0.85391	0.1765:0.0:0.8235:0.0	8.225	0.30722	869	0.31655	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	890.43	35	chr17	49578690	.	G	A	890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=380;ExcessHet=0;FS=2.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=2.01;SOR=0.4	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr17	49707012	49707012	G	C	exonic	SLC35B1	.	nonsynonymous SNV	SLC35B1:NM_005827:exon2:c.C161G:p.T54S	.	431	1058	33	0	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00539137	0.0109	0.0018	0.0041	0.0001	0.0290	0.0117	0.0121	0.0165	0.0101422	1568	154602	rs142518431	0.0097	0.0098	0.0093	0.0101	0.0177	0.0096	0.0095	0.0169	0.0166	0.0011	0.0048	0.0199	5.038e-05	0.0252	0.0132	0.0089	0.0099	0.0177	0.0084	0.0084	0.0077	0.0092	0.0149	0.0080	0.0079	0.0121	0.0111	0.0017	0	0.0063	0.0225	0.0002	0.0246	0.0136	0.0100	0.0081	0.0149	0.603	0.05584	T	0.759	0.04652	T	0.0	0.02946	B	0.004	0.10090	B	0.000009	0.62929	D	0.109197	0.993073	0.41828	D	-0.44	0.02835	N	1.55	0.29866	T	0.42	0.03352	N	.	.	-1.0703	0.09348	T	0.023	0.09696	T	10	0.0074454844	0.00169	T	.	.	.	0.254	0.56428	0.478	0.55663	.	.	0.513224448334425	0.51244	0.253413253526	0.27906	0.680591702461	0.64353	T	0.01522	0.12811	T	-0.344412	0.05088	T	-0.254526	0.49370	T	0.0135447190752144	0.00249	T	0.829117	0.55914	T	0.13029192	0.30405	0.15126616	0.35639	0.13029192	0.30405	0.15126616	0.35638	-5.308	0.40022	T	.	.	0.136	0.40666	B	.;.;.;.;.	.;.;.;.;.	3.131060	0.42311	21.5	0.86187237248678539	0.16370	0.97835	0.77484	D	AEFB	0.932008	0.92170	D	-0.276935970065927	0.30041	1.671435	-0.031856219340626	0.38284	2.25339	0.999999996993668	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.48	4.48	0.53973	7.140000	0.76912	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1541:0.8459:0.0	13.851	0.62994	761	0.50382	.;.;.;.;.	.	.	XYLT2	Esophagus_Muscularis	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.005051	0.012228	0.032164	0.000000	0.008621	0.018293	0.030303	0.05	1439.43	38	chr17	49707012	.	G	C	1439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.512;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.31;SOR=0.666	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	9	0	1	0
chr17	50117573	50117573	C	G	exonic	SAMD14	.	nonsynonymous SNV	SAMD14:NM_001257359:exon4:c.G333C:p.E111D,SAMD14:NM_174920:exon4:c.G333C:p.E111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0352711414868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.22400	T	0.437	0.15355	T	0.421	0.43659	B	0.05	0.40614	B	0.005605	0.32654	N	0.209202	0.621257	0.32707	D	1.355	0.33814	L	.	.	.	-1.1	0.32791	N	0.203	0.22486	-0.9262	0.44688	T	0.097	0.36367	T	9	0.14825007	0.28077	T	0.035271	0.56231	D	0.048	0.13305	0.095	0.01241	0.555788435936	0.55237	0.3538032966920075	0.35294	1.19617047702	0.80404	0.889813065529	0.95237	D	0.055418	0.30000	T	-0.141496	0.29652	T	-0.441025	0.28694	T	0.497548907995224	0.32540	T	0.678032	0.28700	T	0.11054122	0.26126	0.10171403	0.24358	0.11054122	0.26126	0.10171403	0.24358	-3.476	0.16671	T	.	.	0.072	0.13737	B	.;.;.	.;.;.	2.069692	0.26317	17.08	0.98792543981873915	0.46317	0.79415	0.39348	D	ALL	0.293554	0.40415	N	-0.21849317765686	0.32374	1.825157	-0.164950594762138	0.32837	1.872192	0.999999999924763	0.74766	0.652421	0.48094	0	0.609123	0.50646	0	0.64067	0.45733	0	0.695668	0.68540	0	.	.	5.03	1.88	0.24630	0.470000	0.21795	-0.015000	0.13005	0.533000	0.24879	0.999000	0.42656	0.794000	0.26889	0.996000	0.76049	0.0:0.6384:0.0:0.3616	7.388	0.26064	810	0.42761	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	379.43	35	chr17	50117573	.	C	G	379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.567;DP=339;ExcessHet=0;FS=1.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=1.16;SOR=1.061	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,925	9	0	1	0
chr17	50196495	50196495	G	A	exonic	COL1A1	.	nonsynonymous SNV	COL1A1:NM_000088:exon13:c.C892T:p.P298S	Caffey disease, Autosomal dominant;Ehlers-Danlos syndrome, classic, Autosomal dominant;Ehlers-Danlos syndrome, type VIIA, Autosomal dominant;Osteogenesis imperfecta, type I, Autosomal dominant;Osteogenesis imperfecta, type II, Autosomal dominant;Osteogenesis imperfecta, type III, Autosomal dominant;Osteogenesis imperfecta, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.821	0.62050387747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.072	0.43344	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-4.06	0.96529	D	-5.46	0.85541	D	0.673	0.68082	1.062	0.98376	D	0.930	0.97686	D	10	0.8667029	0.85917	D	0.620504	0.96713	D	0.821	0.94276	0.516	0.61611	0.798066558276	0.79618	0.9033926953971392	0.90312	0.56717705371	0.52986	0.746080160141	0.73868	T	.	.	.	0.244205	0.78057	D	0.113007	0.77772	D	0.995963156223297	0.88404	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08705	B	.	.	4.045540	0.59928	24.2	0.99522978881899948	0.69346	0.93910	0.59546	D	AEFGBHCI	0.959621	0.98003	D	0.808552054789933	0.86638	8.950081	0.770795451238433	0.87701	9.313727	0.999999999999944	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.530356	0.10902	0	.	.	5.02	5.02	0.66742	10.003000	0.99689	11.898000	0.99275	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.117	0.86568	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1106.43	35	chr17	50196495	.	G	A	1106.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.991;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=2.54;SOR=0.698	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr17	50274530	50274530	C	T	exonic	TMEM92	.	nonsynonymous SNV	TMEM92:NM_153229:exon1:c.C29T:p.A10V,TMEM92:NM_001168215:exon2:c.C29T:p.A10V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00857200189825	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs965347578	2.737e-05	2.736e-05	3.131e-05	2.338e-05	0.0003	2.063e-05	1.816e-05	8.865e-05	6.43e-05	0	0.0002	0	2.52e-05	0	0.0003	2.608e-05	0	0	0.0001	0.0001	0.0001	9.414e-05	0.0007	6.511e-05	5.322e-05	0.0004	0.0003	0	0	0.0007	0	0.0004	0	0	4.41e-05	0	0	1.0	0.00964	T	0.286	0.21277	T	0.022	0.18677	B	0.005	0.11217	B	0.005725	0.01092	N	4.361770	1	0.08975	N	0.695	0.17993	N	3.43	0.05440	T	-0.02	0.07299	N	0.049	0.21969	-0.9742	0.36301	T	0.009	0.03359	T	10	0.020655721	0.00480	T	0.008572	0.22655	T	0.010	0.01040	.	.	0.0297737177859	0.01360	0.31578624908777225	0.31491	0.247410418355	0.27288	0.349556446075	0.17856	T	0.002225	0.01623	T	-0.585264	0.00179	T	-0.793754	0.02063	T	0.116361156105995	0.14070	T	0.421058	0.11199	T	0.040974025	0.05948	0.034089968	0.02415	0.040974025	0.05948	0.034089968	0.02415	-3.202	0.12505	T	.	.	0.102	0.18247	B	.;.	.;.	0.418974	0.07896	4.600	0.83097051835621993	0.14540	0.02419	0.06836	N	AEFDGBHCI	0.040071	0.05910	N	-1.06529530033802	0.07291	0.338243	-1.0362334203659	0.08996	0.4451803	0.999997791498434	0.74766	0.72623	0.87236	0	0.296712	0.05252	1	0.594344	0.31042	0	0.620976	0.48614	0	.	.	4.33	-0.69	0.10741	-0.721000	0.05067	-1.655000	0.04976	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.2151:0.2663:0.0:0.5186	2.854	0.05226	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	970.43	71	chr17	50274530	.	C	T	970.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.867;DP=392;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-0.328;SOR=0.518	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,919	9	0	1	0
chr17	50482128	50482128	C	T	exonic	RSAD1	.	nonsynonymous SNV	RSAD1:NM_018346:exon4:c.C512T:p.T171M	.	435	1085	2	0	0	2	0.00092081	.	.	.	2385690	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.119770241664	7.7e-05	.	0.0001	0	0	0	0	0.0002	0.0012	9.297e-05	0.0001035	16	154602	rs201488851	0.0001	0.0001	0.0001	0.0001	0.0014	9.777e-05	9.247e-05	0.0007	0.0005	0	0	0	0	1.895e-05	0.0014	0.0001	0.0002	4.781e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.16e-05	6.718e-05	0.0001	0.0001	2.405e-05	0	0	0	0	0	0.0034	0.0002	0.0005	0	0.105	0.29823	T	0.109	0.37449	T	0.996	0.68779	D	0.867	0.61644	P	0.000264	0.46590	N	0.186648	0.982559	0.24954	N	1.295	0.32453	L	-1.35	0.80035	T	-0.59	0.17624	N	0.317	0.35727	-0.5238	0.67774	T	0.471	0.79668	T	10	0.5140582	0.62264	D	0.11977	0.80016	D	0.316	0.63799	.	.	0.695963169682	0.69334	0.5726103130781338	0.57189	0.766586742155	0.64541	0.478727638721	0.35881	T	0.17637	0.52630	T	-0.250187	0.14076	T	-0.317717	0.42824	T	0.142543411340752	0.16492	T	0.724428	0.33821	T	0.0306423	0.02764	0.05636043	0.10056	0.0306423	0.02763	0.05636043	0.10056	-7.42	0.57045	T	.	.	0.161	0.35643	B	.	.	3.681786	0.52413	23.2	0.85655620992598125	0.16029	0.94134	0.60215	D	AEFDBI	0.503880	0.53568	D	0.0948587413054502	0.46223	2.865999	0.0490180805206099	0.42025	2.53473	0.999973773259	0.50053	0.712529	0.81865	0	0.723109	0.82256	0	0.719019	0.79029	0	0.691587	0.68394	0	.	.	5.07	3.08	0.34576	4.241000	0.58503	1.818000	0.29017	-0.173000	0.11020	0.999000	0.42656	0.933000	0.28592	0.151000	0.20341	0.1774:0.6662:0.0:0.1564	6.646	0.22128	896	0.25515	Radical SAM|Radical SAM|Radical SAM|Elp3/MiaB/NifB	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	888.43	35	chr17	50482128	.	C	T	888.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.951;DP=376;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.557;SOR=0.428	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,921	9	0	1	0
chr17	50482287	50482287	C	T	exonic	RSAD1	.	nonsynonymous SNV	RSAD1:NM_018346:exon4:c.C671T:p.S224F	.	439	1079	4	0	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.629	.	.	0.00219649	0.0008	0	8.679e-05	0	0	0	0	0.0076	0.0007568	117	154602	rs199515699	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	3.006e-05	0	0	0	0	0	9.052e-07	0.0004	0.0066	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	0	0	0.0064	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.4	0.98649	H	1.71	0.26737	T	-5.49	0.85765	D	0.992	0.99822	0.036	0.82973	D	0.324	0.69272	T	10	0.06236419	0.07962	T	.	.	.	0.629	0.85718	0.709	0.84509	0.443592365053	0.43979	0.8867271271999881	0.88641	0.803477853689	0.66359	0.632889866829	0.57555	T	0.358058	0.72467	T	-0.0269067	0.47866	T	0.191047	0.82629	D	0.288364441580597	0.24521	T	0.933407	0.75038	D	0.86920255	0.88799	0.8086973	0.88818	0.86920255	0.88800	0.8086973	0.88819	-18.125	0.99573	D	.	.	0.945	0.86373	P	.	.	5.546205	0.92011	32	0.99848206170128206	0.92750	0.95755	0.66016	D	AEFDBCI	0.927220	0.90953	D	1.06612019596651	0.97454	16.15653	0.954797496366553	0.97545	16.31575	1.0	0.98316	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.37	5.37	0.76949	7.714000	0.83668	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	18.718	0.91648	896	0.25515	Radical SAM|Radical SAM|Elp3/MiaB/NifB	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1418.43	103	chr17	50482287	.	C	T	1418.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.362;DP=444;ExcessHet=0;FS=1.582;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-1.307;SOR=0.593	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr17	50529086	50529086	C	A	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon18:c.C2670A:p.D890E,MYCBPAP:NM_032133:exon18:c.C2622A:p.D874E	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00200125105352	.	0.000599042	0.0003	9.619e-05	0	0	0	1.5e-05	0	0.0019	0.0002329	36	154602	rs527652023	0.0001	0.0001	6.943e-05	0.0002	0.0013	0.0001	9.634e-05	0.0011	0.0011	0	0	0	0	1.872e-05	0.0003	3.957e-05	0.0001	0.0013	0.0001	0.0001	8.994e-05	0.0001	0.0019	6.506e-05	5.319e-05	0.0010	0.0007	0	0	6.535e-05	0	0	0	0	8.819e-05	0	0.0019	0.323	0.13436	T	0.331	0.18903	T	.	.	.	.	.	.	0.003827	0.34438	N	0.244360	0.999551	0.20991	N	.	.	.	2.01	0.21865	T	-0.79	0.23156	N	0.025	0.01203	-1.0489	0.14705	T	0.030	0.13023	T	10	0.00640586	0.00145	T	0.002001	0.03615	T	0.047	0.12962	0.122	0.02867	0.291694819147	0.28783	.	.	0.179901956931	0.20237	0.381356358528	0.22448	T	.	.	.	-0.678117	0.00049	T	-0.771472	0.02720	T	0.0168819587857182	0.00440	T	0.587441	0.21491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32202	B	.;.	.;.	-0.161838	0.03290	0.567	0.76415033146919353	0.11459	0.01863	0.05749	N	AEFBI	0.057089	0.10607	N	-0.98732920065019	0.08873	0.4177567	-0.995652561712057	0.09882	0.4943052	0.0187888329176578	0.13096	0.549168	0.22868	0	0.610034	0.51514	0	0.577349	0.28860	0	0.616125	0.45549	0	.	.	5.26	-1.62	0.07926	-1.466000	0.02461	-3.128000	0.03037	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.008000	0.08271	0.4371:0.2315:0.1288:0.2026	1.050	0.01480	939	0.14249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	1768.14	38	chr17	50529086	.	C	A	1768.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=442;ExcessHet=0.2348;FS=0.635;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.3;SOR=0.602	GT:AD:DP:GQ:PL	0/1:40,33:73:99:863,0,971	8	0	2	0
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D,SPATA20:NM_001258373:exon3:c.A103G:p.N35D,SPATA20:NM_022827:exon3:c.A283G:p.N95D	.	414	1083	25	0	0	25	0.0114103	.	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.023098	0.014620	0.000000	0.034483	0.003049	0.011364	0.05	2290.43	37	chr17	50548440	.	A	G	2290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.229;DP=652;ExcessHet=0;FS=5.961;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-0.041;SOR=0.975	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1401	9	0	1	0
chr17	50576281	50576281	G	A	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_001256324:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256325:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256326:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256327:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256328:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256329:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256330:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256331:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256332:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256333:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256334:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256359:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256360:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256361:exon8:c.G1879A:p.G627R,CACNA1G:NM_018896:exon8:c.G1879A:p.G627R,CACNA1G:NM_198376:exon8:c.G1879A:p.G627R,CACNA1G:NM_198377:exon8:c.G1879A:p.G627R,CACNA1G:NM_198378:exon8:c.G1879A:p.G627R,CACNA1G:NM_198379:exon8:c.G1879A:p.G627R,CACNA1G:NM_198380:exon8:c.G1879A:p.G627R,CACNA1G:NM_198382:exon8:c.G1879A:p.G627R,CACNA1G:NM_198383:exon8:c.G1879A:p.G627R,CACNA1G:NM_198384:exon8:c.G1879A:p.G627R,CACNA1G:NM_198385:exon8:c.G1879A:p.G627R,CACNA1G:NM_198386:exon8:c.G1879A:p.G627R,CACNA1G:NM_198387:exon8:c.G1879A:p.G627R,CACNA1G:NM_198388:exon8:c.G1879A:p.G627R,CACNA1G:NM_198396:exon8:c.G1879A:p.G627R	Spinocerebellar ataxia 42, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	727275	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.299	0.0670740785396	0.0003	0.00119808	0.0028	0.0004	0.0008	0	0	0.0022	0.0088	0.0062	0.0011513	178	154602	rs200317339	0.0010	0.0011	0.0009	0.0012	0.0054	0.0010	0.0010	0.0049	0.0048	0.0002	0.0006	0.0046	0.0001	3.99e-05	0.0052	0.0007	0.0016	0.0054	0.0008	0.0008	0.0007	0.0009	0.0044	0.0006	0.0006	0.0029	0.0025	0.0002	0	0.0008	0.0043	0	0	0.0034	0.0008	0.0024	0.0044	0.186	0.24183	T	0.13	0.41573	T	0.003	0.11197	B	0.008	0.13708	B	0.349988	0.13831	N	0.713114	0.99899	0.21728	N	1.1	0.28011	L	-3.97	0.96716	D	-2.0	0.46146	N	0.168	0.21319	0.250	0.86741	D	0.832	0.94376	D	10	0.0069058537	0.00157	T	0.067074	0.70060	D	0.299	0.61955	0.204	0.11936	0.89126680826	0.89019	0.4557633473066184	0.45494	0.0849823423278	0.09603	0.511161386967	0.40384	T	0.027272	0.48379	T	-0.201931	0.20526	T	-0.060779	0.66277	T	0.0493582370862711	0.05388	T	0.880112	0.61284	D	0.12069945	0.28396	0.118940026	0.28709	0.10224915	0.24158	0.124039076	0.29901	-6.559	0.50739	T	0.2774585651588352	0.37220	0.268	0.52035	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.921333	0.38785	20.8	0.99775435489124153	0.86260	0.46059	0.27676	N	AEFDBCI	0.200748	0.32746	N	-0.226702404780759	0.32042	1.80286	-0.0293258361469758	0.38397	2.261579	0.72436983267059	0.22970	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.72	4.7	0.58776	2.959000	0.48846	5.811000	0.50008	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.1496:0.0:0.7166:0.1338	7.282	0.25494	940	0.13648	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.008152	0.002941	0.000000	0.000000	0.003049	0.018939	0.1	1541.14	39	chr17	50576281	.	G	A	1541.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.61;DP=412;ExcessHet=0.2348;FS=0.694;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.363;SOR=0.826	GT:AD:DP:GQ:PL	0/1:22,24:46:99:588,0,482	8	0	2	0
chr17	50634975	50634975	G	C	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_001144070:exon1:c.G39C:p.K13N,ABCC3:NM_003786:exon1:c.G39C:p.K13N	.	413	1094	15	0	0	15	0.0068089	.	.	.	2811516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.075	.	0.0042	0.00239617	0.0361	0.0092	0.0175	0	0.0357	0.0646	0.0833	0	0.0029883	462	154602	rs201886646	0.0074	0.0064	0.0074	0.0075	0.0080	0.0073	0.0072	0.0077	0.0076	0.0019	0.0043	0.0120	3.631e-05	0.0101	0.0080	0.0078	0.0070	0.0009	0.0063	0.0063	0.0066	0.0059	0.0100	0.0060	0.0058	0.0094	0.0091	0.0011	0	0.0046	0.0144	0.0002	0.0076	0.0068	0.0100	0.0080	0.0014	0.222	0.18823	T	0.246	0.23984	T	0.027	0.25085	B	0.022	0.21085	B	0.843825	0.07016	N	1.081660	0.901692	0.36187	D	1.7	0.43825	L	1.32	0.35219	T	-5.0	0.82341	D	0.242	0.37405	-1.0050	0.28457	T	0.075	0.30272	T	10	0.0056319833	0.00125	T	.	.	.	0.075	0.21907	0.459	0.52590	0.510230903827	0.50662	0.1288990446289757	0.12814	0.210539273682	0.23543	0.727804601192	0.71185	T	0.094028	0.39332	T	-0.505028	0.00536	T	-0.490252	0.23365	T	0.0505261759568261	0.05591	T	0.644036	0.25562	T	0.22649622	0.45332	0.2128785	0.45776	0.22649622	0.45332	0.2128785	0.45775	-2.898	0.12129	T	.	.	0.666	0.71558	P	.;.;.	.;.;.	3.696541	0.52696	23.3	0.99717977208791564	0.81843	0.64099	0.32298	D	AEFDGBHCI	0.348717	0.44275	N	-0.134918668007361	0.35877	2.066503	-0.0203688633835132	0.38795	2.290869	0.999999999999733	0.74766	0.455138	0.09556	0	0.606814	0.50340	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.88	3.88	0.43959	3.749000	0.54867	2.862000	0.35209	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	13.070	0.58470	837	0.37933	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002125	0.000000	0.001453	0.000000	0.000000	0.018519	0.003289	0.000000	0.05	75.43	35	chr17	50634975	.	G	C	75.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.552;DP=291;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.03;ReadPosRankSum=0.327;SOR=0.33	GT:AD:DP:GQ:PL	0/1:11,4:15:87:87,0,285	9	0	1	0
chr17	50675684	50675684	G	A	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_003786:exon21:c.G2768A:p.R923Q	.	411	1105	6	0	0	6	0.00270758	.	.	.	715565	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.221	.	0.0042	0.00199681	0.0061	0.0014	0.0166	0	0.0027	0.0097	0	0.0026	0.0030142	466	154602	rs34502058	0.0048	0.0048	0.0048	0.0048	0.0059	0.0047	0.0047	0.0052	0.0052	0.0012	0.0059	0.0040	5.328e-05	0.0018	0.0023	0.0053	0.0053	0.0024	0.0041	0.0041	0.0043	0.0040	0.0095	0.0039	0.0038	0.0082	0.0077	0.0011	0.0318	0.0095	0.0052	0	0.0007	0.0034	0.0053	0.0061	0.0025	0.179	0.22053	T	0.285	0.21343	T	0.99	0.63424	D	0.478	0.47030	P	0.973981	0.07797	N	1.019040	1	0.08975	N	1.9	0.50570	L	-2.52	0.89363	D	-1.06	0.27669	N	0.211	0.23506	-0.5678	0.66103	T	0.429	0.77140	T	10	0.0101266205	0.00227	T	.	.	.	0.221	0.51721	.	.	0.83608419268	0.83452	0.22482797430313953	0.22397	0.186030908948	0.20911	0.271977186203	0.06401	T	0.07818	0.35830	T	-0.381881	0.03032	T	-0.315631	0.43052	T	0.0103270150029285	0.00141	T	0.806319	0.45525	T	0.036224034	0.04415	0.039520033	0.04062	0.036224034	0.04415	0.039520033	0.04062	-4.789	0.34463	T	.	.	0.075	0.05535	B	.	.	2.504967	0.32342	19.01	0.99839562317550135	0.92057	0.51988	0.29025	D	AEFDGBI	0.243639	0.36488	N	-0.354029097311101	0.27125	1.485691	-0.455757827002277	0.23385	1.275036	0.999853016658394	0.44174	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	1.41	0.21461	0.946000	0.28667	0.815000	0.21791	0.676000	0.76740	0.791000	0.29607	0.173000	0.23359	0.005000	0.06747	0.2668:0.0:0.569:0.1642	4.027	0.09176	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002533	0.005208	0.001366	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	1027.43	48	chr17	50675684	.	G	A	1027.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=429;ExcessHet=0;FS=1.995;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.01;SOR=0.439	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr17	50863764	50863764	T	A	exonic	TOB1	.	nonsynonymous SNV	TOB1:NM_005749:exon2:c.A254T:p.N85I,TOB1:NM_001243877:exon3:c.A254T:p.N85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.119174689701	.	0.000199681	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201762176	4.104e-06	4.104e-06	2.722e-06	5.5e-06	1.159e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	1.159e-05	6.569e-06	6.563e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.01	0.56456	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.22	0.62911	M	0.75	0.50192	T	-8.14	0.96736	D	0.883	0.91505	-0.4992	0.68679	T	0.286	0.65753	T	10	0.8341868	0.82576	D	0.119175	0.79941	D	0.575	0.82799	.	.	0.302481332339	0.29867	0.7272682016100377	0.72670	1.16231426647	0.79529	0.726274251938	0.70963	T	0.526481	0.83535	D	0.12923	0.67286	D	-0.0521459	0.66875	D	0.997474253177643	0.91644	D	0.966203	0.87589	D	0.9251667	0.93755	0.8493329	0.91460	0.9251667	0.93756	0.8493329	0.91460	-8.175	0.62256	D	.	.	0.951	0.86985	P	.;.	.;.	5.142742	0.86108	28.8	0.98615455012660025	0.43704	0.97450	0.74827	D	AEFGBCI	0.917556	0.88533	D	0.788498541575692	0.85380	8.558886	0.787177275970372	0.88887	9.754481	1.0	0.98316	0.722319	0.85440	0	0.696144	0.67643	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.8	5.8	0.92081	7.674000	0.83146	7.951000	0.75833	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.155	0.81470	883	0.28872	Anti-proliferative protein|Anti-proliferative protein|Anti-proliferative protein;Anti-proliferative protein|Anti-proliferative protein|Anti-proliferative protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2254.43	38	chr17	50863764	.	T	A	2254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.743;DP=578;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.278;SOR=0.709	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr17	53823562	53823562	G	A	exonic	KIF2B	.	nonsynonymous SNV	KIF2B:NM_032559:exon1:c.G529A:p.D177N	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.00690310278713	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0002	0.0001229	19	154602	rs201369720	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	5.974e-05	0	0	0	0	0.0019	0.0002	9.935e-05	0.0001	0.0002	0.0002	8.993e-05	0.0002	0.0003	0.0001	9.241e-05	0.0002	0.0002	4.824e-05	0	6.541e-05	0	0	0	0	0.0003	0.0005	0	0.384	0.11050	T	0.479	0.11933	T	0.028	0.19712	B	0.019	0.18783	B	0.679362	0.10272	N	0.814743	1	0.08975	N	0.395	0.12235	N	-0.76	0.73417	T	-1.54	0.37375	N	0.071	0.04426	-0.9930	0.31827	T	0.175	0.51816	T	10	0.057866365	0.06713	T	0.006903	0.18261	T	0.113	0.31778	.	.	0.579627256647	0.57633	0.27616910367614184	0.27529	0.0956393424838	0.10807	0.290927648544	0.09058	T	0.00447	0.03877	T	-0.472245	0.00823	T	-0.625981	0.10721	T	0.0169875623781987	0.00448	T	0.536146	0.17993	T	0.031134343	0.02898	0.031366345	0.01715	0.031134343	0.02897	0.031366345	0.01715	-6.725	0.51999	T	.	.	0.074	0.05231	B	.	.	0.514128	0.08831	5.608	0.94558008777797131	0.25080	0.14210	0.18282	N	AEFBCI	0.039311	0.05691	N	-1.02520070257842	0.08083	0.3777647	-0.99522458213315	0.09891	0.4948359	1.77521451901398E-6	0.01202	0.500041	0.20204	0	0.573888	0.26702	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.52	-0.433	0.11674	0.443000	0.21360	0.023000	0.13619	0.676000	0.76740	0.010000	0.18352	0.000000	0.08366	0.018000	0.11154	0.4109:0.0:0.5891:0.0	10.091	0.41620	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2537.43	198	chr17	53823562	.	G	A	2537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.64;DP=1108;ExcessHet=0;FS=1.697;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.879;SOR=0.836	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1440	9	0	1	0
chr17	55031210	55031210	C	G	exonic	STXBP4	.	nonsynonymous SNV	STXBP4:NM_178509:exon9:c.C709G:p.Q237E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00234993074925	.	.	5.824e-05	0	0	0	0	1.514e-05	0	0.0004	4.53e-05	7	154602	rs773689328	3.148e-05	3.147e-05	2.451e-05	3.852e-05	0.0003	2.413e-05	2.159e-05	0.0003	0.0002	0	0	0	0	0	0.0002	1.08e-05	4.97e-05	0.0003	1.314e-05	1.312e-05	0	2.688e-05	0.0004	2.18e-06	8.2e-07	7.315e-05	3.038e-05	0	0	0	0	0	0	0	0	0	0.0004	0.293	0.18498	T	0.289	0.21343	T	0.016	0.17332	B	0.004	0.14300	B	0.006576	0.31942	N	0.336602	0.99465	0.23472	N	1.445	0.36358	L	1.4	0.33630	T	-0.82	0.28703	N	0.269	0.32921	-1.0529	0.13601	T	0.053	0.22307	T	10	0.08329299	0.13841	T	0.00235	0.04562	T	0.021	0.04004	0.183	0.09131	0.565722134273	0.56235	0.25410540013764976	0.25324	0.165898034849	0.18718	0.305732011795	0.11262	T	0.010154	0.18273	T	-0.398093	0.02383	T	-0.513417	0.20964	T	0.0389478504657745	0.03502	T	0.753825	0.37593	T	0.08760516	0.20407	0.071868725	0.15440	0.08760516	0.20407	0.071868725	0.15439	-6.976	0.58478	T	.	.	0.065	0.03372	B	.;.;.;.	.;.;.;.	2.504758	0.32342	19.01	0.96233039684977784	0.29126	0.53314	0.29342	D	AEFGBI	0.060258	0.11440	N	-0.274756476300763	0.30126	1.676947	-0.0893932867968993	0.35828	2.07744	1.86435833104416E-4	0.05844	0.638212	0.43195	0	0.588066	0.40923	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.79	3.58	0.40133	1.943000	0.39880	4.398000	0.43237	0.599000	0.40250	0.949000	0.33028	1.000000	0.68203	0.998000	0.85391	0.1617:0.689:0.1493:0.0	9.557	0.38511	688	0.59122	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1235.43	33	chr17	55031210	.	C	G	1235.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.49;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.719;SOR=0.665	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1327	9	0	1	0
chr17	56442921	56442921	G	T	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon9:c.G1096T:p.A366S,ANKFN1:NM_001365758:exon10:c.G883T:p.A295S,ANKFN1:NM_001370326:exon10:c.G1087T:p.A363S	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.0373931444775	0.0005	0.000399361	0.0008	9.711e-05	0.0003	0.0001	0.0002	0.0009	0.0011	0.0019	0.0007568	117	154602	rs138216458	0.0006	0.0006	0.0005	0.0007	0.0033	0.0006	0.0006	0.0022	0.0019	2.989e-05	0.0004	0.0041	2.52e-05	3.747e-05	0.0033	0.0005	0.0009	0.0022	0.0004	0.0004	0.0004	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.22e-05	0	0.0004	0.0049	0	0	0.0034	0.0004	0	0.0017	0.01	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	0.96	0.70309	D	0.000011	0.62929	N	0.148766	0.999998	0.58761	D	3.115	0.87836	M	1.4	0.33630	T	-2.4	0.52776	N	0.736	0.73645	-0.6599	0.62280	T	0.243	0.61119	T	10	0.014914453	0.00313	T	0.037393	0.57590	D	0.232	0.53354	.	.	0.872464492951	0.87121	0.5807451798694027	0.58003	0.559285100713	0.52478	0.571488440037	0.48889	T	0.07888	0.42385	T	-0.292023	0.09434	T	-0.199031	0.54739	T	0.0982959046959877	0.12168	T	0.882712	0.60756	D	0.18941581	0.40482	0.25607088	0.51301	0.18941581	0.40482	0.25607088	0.51300	-12.183	0.85731	D	.	.	0.181	0.41708	B	.;.;.	.;.;.	4.360658	0.67059	25.0	0.99700190623640705	0.80591	0.99515	0.96953	D	AEFGBHI	0.888402	0.82148	D	0.864844077679793	0.89936	10.18144	0.854003066918401	0.93247	11.91888	0.999993495095708	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.72	5.72	0.89380	7.679000	0.83364	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:1.0:0.0	19.880	0.96894	188	0.92666	Fibronectin type III;Fibronectin type III;Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	640.43	33	chr17	56442921	.	G	T	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.707;DP=384;ExcessHet=0;FS=2.154;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.213;SOR=0.985	GT:AD:DP:GQ:PL	0/1:35,27:62:99:652,0,970	9	0	1	0
chr17	56449184	56449184	G	A	exonic	ANKFN1	.	nonsynonymous SNV	ANKFN1:NM_153228:exon10:c.G1214A:p.R405Q,ANKFN1:NM_001365758:exon11:c.G1001A:p.R334Q,ANKFN1:NM_001370326:exon11:c.G1205A:p.R402Q	.	432	1085	5	0	0	5	0.00229885	0.0019	0.012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.0131572044852	0.0017	0.00159744	0.0021	0.0004	0.0003	0.0001	0.0005	0.0019	0.0011	0.0072	0.002031	314	154602	rs7224861	0.0021	0.0022	0.0020	0.0023	0.0073	0.0021	0.0021	0.0068	0.0066	0.0002	0.0004	0.0029	0	0.0004	0.0012	0.0020	0.0023	0.0073	0.0013	0.0013	0.0013	0.0013	0.0046	0.0011	0.0011	0.0031	0.0026	0.0003	0	0.0006	0.0029	0	0.0002	0.0034	0.0020	0.0019	0.0046	0.68	0.04430	T	0.292	0.20877	T	0.824	0.45836	P	0.084	0.29270	B	0.000899	0.41231	D	0.246105	0.999954	0.52396	D	1.67	0.42885	L	1.52	0.30669	T	-0.16	0.09460	N	0.428	0.46742	-1.0777	0.07801	T	0.039	0.16978	T	10	0.009422928	0.00213	T	0.013157	0.32344	T	0.174	0.44019	.	.	0.6928222551	0.69017	0.17718402340767386	0.17637	0.437093219509	0.43779	0.438164710999	0.30327	T	0.015482	0.12979	T	-0.40189	0.02250	T	-0.345639	0.39705	T	0.0347236221552785	0.02761	T	0.922708	0.71908	D	0.13480529	0.31308	0.10890481	0.26241	0.13480529	0.31308	0.10890481	0.26241	-4.383	0.29326	T	.	.	0.093	0.14015	B	.;.;.	.;.;.	3.599543	0.50833	23.0	0.98135030248591648	0.38555	0.90743	0.52177	D	AEFDBHCI	0.884187	0.81367	D	0.299931784593791	0.56145	3.778909	0.413814966027538	0.62423	4.457588	0.999847339463481	0.43971	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.25	5.25	0.73169	8.953000	0.92934	9.854000	0.82009	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.850	0.92195	163	0.93656	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.003788	0.05	503.43	33	chr17	56449184	.	G	A	503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=374;ExcessHet=0;FS=1.076;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=1.32;SOR=0.927	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,964	9	0	1	0
chr17	56949754	56949754	G	A	exonic	COIL	.	nonsynonymous SNV	COIL:NM_004645:exon3:c.C1367T:p.T456I	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00309073625034	0.0009	0.00159744	0.0017	9.623e-05	0.0003	0	0	0.0008	0.0033	0.0084	0.0013907	215	154602	rs138525201	0.0008	0.0008	0.0006	0.0011	0.0073	0.0008	0.0008	0.0068	0.0067	5.975e-05	0.0003	0.0061	2.519e-05	7.488e-05	0.0052	0.0003	0.0013	0.0073	0.0006	0.0006	0.0004	0.0008	0.0072	0.0005	0.0005	0.0054	0.0047	4.812e-05	0	0.0005	0.0060	0	0	0.0034	0.0004	0.0005	0.0072	0.244	0.17468	T	0.144	0.33109	T	0.002	0.09854	B	0.004	0.10090	B	0.340735	0.04186	N	1.342260	1	0.08975	N	1.01	0.25309	L	1.49	0.31470	T	-0.91	0.24460	N	0.177	0.19055	-1.0154	0.25207	T	0.066	0.27225	T	10	0.0030408204	0.00050	T	0.003091	0.06696	T	0.025	0.05312	.	.	0.130388298395	0.12655	0.12658673646120716	0.12584	0.069739081676	0.07810	0.391432583332	0.23871	T	0.208811	0.56885	T	-0.621246	0.00108	T	-0.659604	0.08293	T	0.00776491708800163	0.00091	T	0.729427	0.34485	T	0.022490758	0.00916	0.037110586	0.03294	0.022490758	0.00916	0.037110586	0.03293	-3.515	0.16642	T	.	.	0.070	0.03552	B	.	.	0.615085	0.09835	6.598	0.80305277189230984	0.13141	0.00675	0.02904	N	AEFDBI	0.017064	0.00423	N	-1.19880836299729	0.05018	0.2278032	-1.2848828491831	0.04634	0.2190473	0.0381773614275593	0.14334	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.52	-4.2	0.03562	0.226000	0.17557	1.664000	0.27916	-0.154000	0.11915	0.000000	0.06391	0.730000	0.26410	0.854000	0.40426	0.5804:0.2206:0.199:0.0	7.359	0.25910	32	0.98147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.005051	0.006793	0.011696	0.050000	0.008621	0.000000	0.015152	0.05	814.43	33	chr17	56949754	.	G	A	814.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.492;DP=410;ExcessHet=0;FS=0.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.213;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1157	9	0	1	0
chr17	57000909	57000909	T	C	exonic	SCPEP1	.	nonsynonymous SNV	SCPEP1:NM_021626:exon11:c.T1049C:p.I350T	.	424	1096	2	0	0	2	0.000911577	.	.	.	2348520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.368	0.0166617283749	0.0002	.	0.0001	9.61e-05	8.637e-05	0	0	0.0002	0	0	0.00011	17	154602	rs140053634	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	8.961e-05	0.0002	0	0	9.36e-05	0.0009	0.0002	8.279e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	9.703e-05	0.0001	0.0001	0.0001	0	0.0001	0	0	0	0	0.0002	0.0010	0	0.001	0.78490	D	0.128	0.34959	T	0.996	0.68779	D	0.946	0.68276	D	0.000000	0.84330	D	0.048223	0.999984	0.54805	D	2.1	0.58353	M	0.91	0.44856	T	-4.45	0.77717	D	0.347	0.38848	-0.8158	0.54196	T	0.218	0.58111	T	10	0.51863706	0.62513	D	0.016662	0.38021	T	0.368	0.68757	.	.	0.786719740753	0.78474	0.6671658437142375	0.66654	0.219899819912	0.24531	0.415551185608	0.27223	T	0.712548	0.91812	D	-0.238852	0.15494	T	-0.296157	0.45128	T	0.309376358985901	0.25389	T	0.874113	0.58433	D	0.59106493	0.72209	0.64729214	0.79374	0.59106493	0.72210	0.64729214	0.79375	-8.19	0.62358	D	.	.	0.192	0.41125	B	.	.	3.149112	0.42619	21.6	0.99341823034019616	0.60210	0.95018	0.63140	D	AEFBI	0.610549	0.59934	D	0.302747594091666	0.56290	3.793431	0.217334887036376	0.50809	3.269128	0.999999901722103	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	3.983000	0.56625	6.097000	0.53509	0.665000	0.62972	1.000000	0.71638	0.977000	0.30130	0.412000	0.27050	0.0:0.0:0.0:1.0	16.025	0.80337	38	0.97995	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1757.43	33	chr17	57000909	.	T	C	1757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=467;ExcessHet=0;FS=2.104;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.755;SOR=0.906	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1168	9	0	1	0
chr17	57744920	57744920	A	G	exonic	CCDC182	.	nonsynonymous SNV	CCDC182:NM_001282544:exon1:c.T353C:p.L118P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0771607784339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.001086	0.40303	N	0.000000	.	.	.	2.255	0.64187	M	.	.	.	-7.0	0.93697	D	0.832	0.82761	-0.2419	0.76576	T	0.279	0.65048	T	5	0.75008667	0.75572	D	0.077161	0.72705	D	0.314	0.63588	0.336	0.32491	0.426084969639	0.42228	0.9253483376281977	0.92511	.	.	.	.	.	0.113353	0.43032	T	0.346792	0.86289	D	0.260366	0.86106	D	0.990066647529602	0.80280	D	0.538946	0.18179	T	0.92789245	0.94025	0.9276454	0.96932	0.92789245	0.94026	0.9276454	0.96933	-6.005	0.46322	T	.	.	0.968	0.89054	P	.	.	4.452972	0.69239	25.3	0.99865479527389633	0.94366	0.78250	0.38578	D	AEFDBHCI	0.710020	0.66392	D	0.3346141645078	0.57934	3.962806	0.39103074462842	0.61009	4.29545	0.999736681354957	0.42341	0.608966	0.35542	0	0.681609	0.65952	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.03	5.03	0.67015	4.514000	0.60201	9.043000	0.78620	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	1.0:0.0:0.0:0.0	11.079	0.47270	86	0.96395	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	360.43	35	chr17	57744920	.	A	G	360.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.874;DP=536;ExcessHet=0;FS=2.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.149;SOR=1.352	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1191	9	0	1	0
chr17	57885490	57885490	-	C	exonic	CUEDC1	.	frameshift insertion	CUEDC1:NM_001271875:exon2:c.74dupG:p.G26Rfs*75,CUEDC1:NM_001292025:exon2:c.74dupG:p.G26Rfs*75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.442e-06	2.052e-06	1.427e-06	1.458e-06	1.286e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.247e-07	0	1.286e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	842.39	37	chr17	57885490	.	T	TC	842.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=382;ExcessHet=0;FS=5.017;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.41;SOR=0.302	GT:AD:DP:GQ:PL	0/1:31,33:64:99:854,0,771	9	0	1	0
chr17	57979246	57979246	C	-	exonic	VEZF1	.	frameshift deletion	VEZF1:NM_007146:exon5:c.1044delG:p.Q348Hfs*9,VEZF1:NM_001330393:exon6:c.1017delG:p.Q339Hfs*9	.	384	1088	13	2	35	52	0.00775194	.	.	.	3199798	VEZF1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0077	0.0005	0.0001	0.0004	0.0006	0.0013	0.0089	3.88e-05	6	154602	rs746343850	0.0038	0.0039	0.0032	0.0045	0.0278	0.0037	0.0037	0.0269	0.0265	0.0219	0.0022	0.0002	0.0001	0.0003	0.0100	0.0018	0.0055	0.0278	0.0075	0.0078	0.0070	0.0080	0.0288	0.0071	0.0070	0.0248	0.0233	0.0204	0	0.0049	0	0	9.812e-05	0.0140	0.0021	0.0059	0.0288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1878.39	100	chr17	57979245	.	GC	G	1878.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.931;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.782;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1333:.	9	0	1	0
chr17	57979248	57979249	GC	-	exonic	VEZF1	.	frameshift deletion	VEZF1:NM_007146:exon5:c.1041_1042del:p.Q348Afs*27,VEZF1:NM_001330393:exon6:c.1014_1015del:p.Q339Afs*27	.	383	1104	1	0	34	35	0.000452694	.	.	.	3199865	VEZF1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0064	0.0004	0.0001	0	0.0005	0.0012	0.0073	0.0002305	6	26028	rs775689252	0.0034	0.0036	0.0029	0.0040	0.0251	0.0033	0.0033	0.0242	0.0238	0.0173	0.0020	0.0002	0.0001	0.0002	0.0094	0.0016	0.0049	0.0251	0.0073	0.0076	0.0068	0.0079	0.0282	0.0070	0.0068	0.0243	0.0228	0.0199	0	0.0047	0	0	9.726e-05	0.0140	0.0021	0.0060	0.0282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1834.04	37	chr17	57979247	.	TGC	T	1834.04	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.824;DP=530;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.34;ReadPosRankSum=0.794;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1333:.	9	0	1	0
chr17	58218626	58218626	T	C	exonic	MKS1	.	nonsynonymous SNV	MKS1:NM_001165927:exon2:c.A154G:p.T52A,MKS1:NM_001321269:exon2:c.A184G:p.T62A,MKS1:NM_001330397:exon2:c.A184G:p.T62A,MKS1:NM_017777:exon2:c.A184G:p.T62A	Bardet-Biedl syndrome 13, Autosomal recessive;Joubert syndrome 28, Autosomal recessive;Meckel syndrome 1, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	3407926	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.348	0.00623335102184	.	.	4.143e-05	0	8.654e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs758090787	3.371e-05	3.352e-05	9.592e-06	5.803e-05	0.0005	2.581e-05	2.325e-05	0.0004	0.0003	0	0	0	0	0	0.0003	0	4.989e-05	0.0005	4.596e-05	4.593e-05	0	9.4e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	0.812	0.03044	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.093499	0.02478	N	2.142410	1	0.18612	N	-0.205	0.04094	N	-0.26	0.67543	T	-0.51	0.16598	N	0.504	0.66529	-0.9591	0.39349	T	0.059	0.24908	T	10	0.028547794	0.00986	T	0.006233	0.16347	T	0.348	0.66956	0.133	0.03747	0.491112125781	0.48745	0.21900587012377654	0.21816	0.24617174184	0.27154	0.305601358414	0.11242	T	0.159719	0.50327	T	-0.263256	0.12522	T	-0.305407	0.44150	T	0.0081780009725031	0.00098	T	0.610139	0.23115	T	0.029850122	0.02548	0.027550627	0.00917	0.028888393	0.02295	0.029242925	0.01241	-2.708	0.07371	T	.	.	0.056	0.00730	B	.;.;.	.;.;.	1.012680	0.13919	10.48	0.8368087906706646	0.14860	0.02162	0.06348	N	AEFDBCI	0.043597	0.06911	N	-1.38774248899974	0.02752	0.1219736	-1.29483687137989	0.04500	0.212394	0.999995004286766	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.665054	0.64577	0	.	.	5.44	-4.34	0.03412	-0.564000	0.06027	-0.301000	0.10115	0.654000	0.53741	0.002000	0.15269	0.000000	0.08366	0.977000	0.56843	0.429:0.3428:0.0:0.2282	4.349	0.10581	572	0.70300	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1254.43	40	chr17	58218626	.	T	C	1254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.764;DP=464;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-1.276;SOR=0.581	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1528	9	0	1	0
chr17	58308723	58308723	T	A	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_024418:exon21:c.A4369T:p.T1457S,TSPOAP1:NM_001261835:exon22:c.A4549T:p.T1517S,TSPOAP1:NM_004758:exon22:c.A4549T:p.T1517S	.	346	1173	3	0	0	3	0.00127714	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00781007020298	0.0019	0.00259585	0.0008	0.0079	0.0007	0	0	9.524e-05	0	0.0002	0.0007891	122	154602	rs147085967	0.0003	0.0003	0.0003	0.0003	0.0076	0.0003	0.0003	0.0068	0.0066	0.0076	0.0008	3.827e-05	0	0	0.0021	7.375e-05	0.0007	0.0001	0.0023	0.0023	0.0024	0.0021	0.0068	0.0021	0.0020	0.0062	0.0059	0.0068	0	0.0030	0.0003	0	0	0.0034	0.0001	0.0033	0	0.556	0.06606	T	0.864	0.03371	T	0.007	0.14655	B	0.01	0.14941	B	0.439411	0.12646	N	0.756822	0.999998	0.08975	N	1.085	0.27262	L	3.7	0.04079	T	0.18	0.05035	N	0.172	0.18376	-0.9189	0.45702	T	0.005	0.01615	T	10	0.0052480996	0.00115	T	0.00781	0.20720	T	0.066	0.19193	0.161	0.06507	0.154104182512	0.14974	0.18740149751186327	0.18658	0.195085890566	0.21846	0.448500871658	0.31739	T	0.008764	0.08027	T	-0.670215	0.00055	T	-0.730788	0.04292	T	0.00369069799404064	0.00039	T	0.611839	0.23263	T	0.052535415	0.09811	0.035732154	0.02881	0.052535415	0.09811	0.035732154	0.02881	-2.068	0.03449	T	.	.	0.086	0.12844	B	.;.;.	.;.;.	1.585730	0.20285	14.68	0.86091787986781876	0.16308	0.54908	0.29732	D	AEFDBCI	0.158107	0.28372	N	-0.547570337791141	0.20560	1.084728	-0.327298403031308	0.27221	1.508916	0.999979995832438	0.50053	0.634777	0.41761	0	0.643519	0.57511	0	0.769059	0.98459	0	0.584449	0.35598	0	.	.	5.11	2.78	0.31702	1.033000	0.29798	0.755000	0.21268	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.1473:0.0:0.1522:0.7005	6.771	0.22777	310	0.87484	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.015152	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	582.43	37	chr17	58308723	.	T	A	582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.868;DP=380;ExcessHet=0;FS=2.25;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-0.888;SOR=1.051	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1133	9	0	1	0
chr17	58327742	58327742	C	T	exonic	TSPOAP1	.	nonsynonymous SNV	TSPOAP1:NM_001261835:exon1:c.G179A:p.S60N,TSPOAP1:NM_004758:exon1:c.G179A:p.S60N,TSPOAP1:NM_024418:exon1:c.G179A:p.S60N	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.00790249215198	0.0021	0.00259585	0.0008	0.0074	0.0010	0	0	0.0001	0	0.0002	0.0008215	127	154602	rs146385838	0.0003	0.0003	0.0003	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0008	3.826e-05	0	0	0.0019	9.892e-05	0.0008	0.0001	0.0021	0.0021	0.0023	0.0020	0.0066	0.0020	0.0019	0.0060	0.0057	0.0066	0	0.0027	0.0003	0	0	0	5.878e-05	0.0028	0	0.003	0.68238	D	0.023	0.57104	D	0.996	0.68779	D	0.986	0.76916	D	0.024684	0.26219	N	0.330725	0.999991	0.08975	N	1.1	0.28011	L	3.18	0.07478	T	-0.85	0.23156	N	0.079	0.11054	-1.1364	0.01499	T	0.032	0.13592	T	10	0.004609406	0.00096	T	0.007902	0.20955	T	0.160	0.41473	.	.	0.268660756437	0.26461	0.2073116866809832	0.20647	0.199979703506	0.22402	0.322463780642	0.13794	T	0.012303	0.10839	T	-0.614869	0.00118	T	-0.651848	0.08825	T	0.0441151312354749	0.04441	T	0.835216	0.50504	T	0.12383885	0.29071	0.20282815	0.44330	0.12383885	0.29071	0.20282815	0.44329	-4.83	0.34939	T	.	.	0.100	0.17317	B	.;.	.;.	1.344835	0.17516	13.21	0.99135180120587674	0.53383	0.21836	0.21541	N	AEFDBHCIJ	0.075554	0.15174	N	-0.16098297316898	0.34770	1.988633	-0.258110543749995	0.29492	1.652785	0.999999568151484	0.74766	0.403107	0.06075	0	0.093493	0.02558	3	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.64	2.49	0.29274	0.001000	0.12940	-0.044000	0.12631	0.599000	0.40250	0.000000	0.06391	0.324000	0.24338	0.004000	0.06068	0.0:0.6767:0.2111:0.1122	5.285	0.15008	309	0.87553	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002725	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1720.43	33	chr17	58327742	.	C	T	1720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=451;ExcessHet=0;FS=1.416;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.517;SOR=0.849	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	9	0	1	0
chr17	58358587	58358587	G	A	exonic	RNF43	.	nonsynonymous SNV	RNF43:NM_001305545:exon8:c.C808T:p.R270W,RNF43:NM_001305544:exon9:c.C1189T:p.R397W,RNF43:NM_017763:exon9:c.C1189T:p.R397W	Sessile serrated polyposis cancer syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2142107	not_specified|not_provided|Sessile_serrated_polyposis_cancer_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014919,MedGen:C4310714,OMIM:617108,Orphanet:157798	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00781078135507	.	0.000199681	3.005e-05	0	0	0	0	5.231e-05	0	0	1.94e-05	3	154602	rs531889929	1.738e-05	1.915e-05	1.241e-05	2.242e-05	0.0002	1.193e-05	1.008e-05	8.304e-05	6.478e-05	0	0	0	0	0	0.0002	1.091e-05	0	0.0001	6.564e-06	6.561e-06	0	1.342e-05	6.533e-05	0	0	.	.	0	0	6.533e-05	0	0	0	0	0	0	0	0.002	0.72154	D	0.054	0.47097	T	0.001	0.07471	B	0.0	0.04355	B	0.248418	0.03631	N	1.499860	1	0.08975	N	2.2	0.62015	M	3.18	0.10674	T	-1.7	0.40468	N	0.144	0.17553	-0.9496	0.41040	T	0.013	0.05273	T	10	0.071103394	0.10435	T	0.007811	0.20720	T	0.094	0.27141	.	.	0.201204373187	0.19734	0.2942340430823508	0.29336	0.417580683729	0.42372	0.523838102818	0.42167	T	0.050547	0.28626	T	-0.453333	0.01079	T	-0.673623	0.07378	T	0.288898408412933	0.24544	T	0.771723	0.40231	T	0.08403536	0.19431	0.07432947	0.16250	0.08403536	0.19431	0.07432947	0.16249	-4.162	0.26838	T	.	.	0.082	0.10739	B	.;.;.;.;.;.	.;.;.;.;.;.	1.826269	0.23208	15.93	0.98834939807376476	0.47018	0.07407	0.13427	N	AEFDBI	0.162253	0.28841	N	-1.08410536417481	0.06935	0.3207131	-1.13061038005924	0.07121	0.3451963	0.999976798579332	0.50053	0.514905	0.20481	0	0.379588	0.06130	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	4.0	-2.67	0.05703	1.209000	0.31963	0.214000	0.15995	-0.950000	0.02036	0.010000	0.18352	0.000000	0.08366	0.108000	0.18652	0.3114:0.1605:0.239:0.2892	0.096	0.00040	308	0.87611	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	439.43	37	chr17	58358587	.	G	A	439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=390;ExcessHet=0;FS=4.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=0.906;SOR=1.093	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1075	9	0	1	0
chr17	58521604	58521604	A	T	exonic	SEPTIN4	.	nonsynonymous SNV	SEPTIN4:NM_001363803:exon7:c.T661A:p.F221I,SEPTIN4:NM_001198713:exon8:c.T934A:p.F312I,SEPTIN4:NM_001256822:exon8:c.T517A:p.F173I,SEPTIN4:NM_004574:exon8:c.T958A:p.F320I,SEPTIN4:NM_080416:exon8:c.T901A:p.F301I,SEPTIN4:NM_001256782:exon9:c.T1003A:p.F335I,SEPTIN4:NM_001368771:exon10:c.T2512A:p.F838I,SEPTIN4:NM_001368772:exon10:c.T937A:p.F313I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.606	0.0756068899213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.59928	D	0.084	0.55341	T	0.987	0.70673	D	0.903	0.81110	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.5	0.92762	M	1.44	0.32722	T	-4.09	0.74900	D	0.856	0.86085	-0.4699	0.69728	T	0.243	0.61201	T	10	0.87120175	0.86386	D	0.075607	0.72330	D	0.606	0.84506	0.726	0.86024	0.834668003253	0.83309	0.8503735103906449	0.84999	1.47686996324	0.86643	0.805797696114	0.82847	D	0.168326	0.85714	T	0.26905	0.80356	D	0.148695	0.80102	D	0.988297402858734	0.78645	D	0.754325	0.37688	T	0.5426311	0.69543	0.47635296	0.69659	0.5426311	0.69544	0.47635296	0.69659	-15.776	0.98042	D	.	.	0.696	0.82507	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.543500	0.71441	25.7	0.913296866254795	0.20591	0.98942	0.88948	D	AEFBI	0.976420	0.99672	D	0.867702221094668	0.90091	10.24936	0.804455715149489	0.90102	10.25677	0.999999999533515	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.23	5.23	0.72570	9.309000	0.95312	9.351000	0.80297	0.731000	0.85647	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	13.061	0.58416	306	0.87689	.;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;Septin-type guanine nucleotide-binding (G) domain|Septin-type guanine nucleotide-binding (G) domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	791.43	34	chr17	58521604	.	A	T	791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.71;DP=378;ExcessHet=0;FS=15.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=2.03;SOR=0.085	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1126	9	0	1	0
chr17	58756283	58756285	GAG	-	exonic	PPM1E	.	nonframeshift deletion	PPM1E:NM_014906:exon1:c.286_288del:p.E100del	.	247	1258	17	0	0	17	0.00671141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0577	.	0.0331	0.0130	0.0424	0.0312	0	0.0246	0.03	0.0411	0.0012679	33	26028	rs544816257	0.0010	0.0080	0.0009	0.0012	0.0035	0.0010	0.0009	0.0030	0.0028	0.0015	0.0035	0.0019	0.0027	0.0010	0.0020	0.0007	0.0012	0.0032	3.333e-05	0.0003	3.905e-05	2.732e-05	2.445e-05	1.275e-05	8.08e-06	.	.	2.445e-05	0	0	0	0	0.0003	0	1.486e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081796	0.098765	0.086572	0.043919	0.250000	0.106383	0.100746	0.068182	0.05	41.39	37	chr17	58756282	.	TGAG	T	41.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.599;DP=261;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=-0.856;SOR=0.61	GT:AD:DP:GQ:PL	0/0:24,0:24:63:0,63,945	9	0	1	0
chr17	59032079	59032079	C	T	exonic	TRIM37	.	nonsynonymous SNV	TRIM37:NM_001353085:exon16:c.G1303A:p.G435S,TRIM37:NM_001320987:exon17:c.G1663A:p.G555S,TRIM37:NM_001353082:exon17:c.G1663A:p.G555S,TRIM37:NM_001353086:exon17:c.G1714A:p.G572S,TRIM37:NM_001005207:exon18:c.G1765A:p.G589S,TRIM37:NM_001320988:exon18:c.G1765A:p.G589S,TRIM37:NM_001320989:exon18:c.G1765A:p.G589S,TRIM37:NM_001353083:exon18:c.G1030A:p.G344S,TRIM37:NM_001353084:exon18:c.G1765A:p.G589S,TRIM37:NM_015294:exon18:c.G1765A:p.G589S,TRIM37:NM_001320990:exon19:c.G1399A:p.G467S	Mulibrey nanism, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1996214	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00734912095148	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	4.105e-06	4.104e-06	1.362e-06	6.877e-06	2.319e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	2.698e-06	1.657e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.17881	T	0.651	0.07059	T	0.0	0.02946	B	0.001	0.04355	B	0.011856	0.29379	N	0.384572	0.779366	0.34247	D	0.345	0.11182	N	1.67	0.35960	T	-0.27	0.13226	N	0.203	0.23758	-0.9390	0.42774	T	0.124	0.42841	T	10	0.09211865	0.16193	T	0.007349	0.19496	T	0.018	0.03083	0.202	0.11659	0.233785782151	0.22967	0.13712882138976565	0.13636	0.21770708725	0.24293	0.355576813221	0.18741	T	0.104399	0.41392	T	-0.207312	0.19760	T	-0.535566	0.18735	T	0.254927963018417	0.23092	T	0.770923	0.40135	T	0.031485643	0.02998	0.04181572	0.04840	0.031485643	0.02997	0.04181572	0.04839	-2.386	0.05047	T	.	.	0.066	0.03093	B	.;.;.	.;.;.	2.084385	0.26515	17.14	0.97613721287192445	0.34921	0.64915	0.32563	D	AEFDBI	0.101262	0.20342	N	-0.435258499899893	0.24243	1.307621	-0.270974319459174	0.29059	1.625087	0.00669668192215108	0.11284	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.75	3.75	0.42236	1.424000	0.34456	3.923000	0.40484	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:0.7965:0.0:0.2035	10.941	0.46487	496	0.76301	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1512.43	111	chr17	59032079	.	C	T	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.223;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=1.41;SOR=0.687	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	9	0	1	0
chr17	59155004	59155004	G	A	exonic	SKA2	.	nonsynonymous SNV	SKA2:NM_001100595:exon1:c.C80T:p.P27L	.	434	1076	11	1	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0198948607709	0.0026	0.00119808	0.0026	0.0006	0.0016	0	0	0.0036	0.0033	0.0030	0.0026132	404	154602	rs77282282	0.0034	0.0034	0.0034	0.0035	0.0043	0.0033	0.0033	0.0034	0.0034	0.0005	0.0016	0.0172	2.519e-05	0.0005	0.0043	0.0035	0.0034	0.0032	0.0026	0.0026	0.0026	0.0027	0.0037	0.0024	0.0023	0.0032	0.0031	0.0006	0.0175	0.0023	0.0161	0	0.0002	0	0.0036	0.0014	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702818	0.81001	D	.	.	.	.	.	.	-10.0	0.98823	D	0.618	0.64393	-0.9863	0.33518	T	0.125	0.42945	T	7	0.01042515	0.00232	T	0.019895	0.42377	T	0.237	0.54074	.	.	0.349429436713	0.34558	.	.	.	.	0.348934918642	0.17766	T	.	.	.	-0.489614	0.00653	T	-0.473738	0.25114	T	0.0396309734099284	0.03624	T	0.647135	0.25820	T	.	.	.	.	.	.	.	.	-3.683	0.19067	T	.	.	0.135	0.29283	B	.;.	.;.	1.961696	0.24919	16.57	0.95534931734476136	0.27173	0.53036	0.29274	D	ALL	0.130745	0.24941	N	-0.249863423605621	0.31109	1.741104	-0.143701896069541	0.33650	1.927196	0.999999999947507	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.06	0.53	0.16296	1.728000	0.37727	2.559000	0.33304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.322:0.0:0.5273:0.1507	4.197	0.09908	0	0.99858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.003788	0.05	2283.43	33	chr17	59155004	.	G	A	2283.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.467;DP=481;ExcessHet=0;FS=2.794;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.84;SOR=0.508	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1012	9	0	1	0
chr17	59194845	59194845	A	G	exonic	PRR11	.	nonsynonymous SNV	PRR11:NM_018304:exon6:c.A734G:p.E245G	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00257480357001	.	0.000199681	0.0001	0	0	0.0008	0	0.0001	0	0.0002	0.0001229	19	154602	rs568463733	9.932e-05	9.987e-05	8.725e-05	0.0001	0.0011	8.589e-05	8.058e-05	0.0008	0.0007	5.979e-05	0	0	0.0011	0.0002	0	5.314e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0017	0.0001	9.696e-05	0.0009	0.0007	7.217e-05	0	0.0001	0	0.0017	9.414e-05	0	0.0001	0.0005	0.0002	0.225	0.18626	T	0.228	0.25286	T	0.996	0.68779	D	0.906	0.64351	P	0.001400	0.39175	N	0.178289	0.993398	0.23720	N	2.215	0.62545	M	.	.	.	-2.86	0.60188	D	0.192	0.21056	-0.9140	0.46351	T	0.174	0.51785	T	9	0.033124626	0.01481	T	0.002575	0.05178	T	0.066	0.19193	.	.	0.477219869099	0.47349	0.21555314127899805	0.21471	0.671117074866	0.59445	0.381732195616	0.22502	T	0.100084	0.40553	T	-0.356801	0.04314	T	-0.330848	0.41374	T	0.0779054724494353	0.09716	T	0.547445	0.18775	T	0.094204396	0.22142	0.17172869	0.39377	0.094204396	0.22142	0.17172869	0.39376	-3.513	0.16614	T	.	.	0.107	0.19998	B	.;.	.;.	3.984455	0.58592	24.0	0.99824266921713234	0.90677	0.85679	0.44838	D	AEFGBI	0.170257	0.29715	N	0.336736464517076	0.58042	3.974396	0.313601426602863	0.56338	3.797024	0.856306864564504	0.25140	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.601000	0.45912	3.782000	0.39794	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.684000	0.33659	1.0:0.0:0.0:0.0	13.559	0.61237	0	0.99858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	863.43	38	chr17	59194845	.	A	G	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.254;DP=406;ExcessHet=0;FS=3.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=1.42;SOR=0.58	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	277.63	33	chr17	59737489	.	A	C	277.63	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.301;DP=679;ExcessHet=1.5895;FS=224.077;InbreedingCoeff=-0.2515;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=0.862;SOR=9.94	GT:AD:DP:GQ:PL	0/1:69,33:102:95:95,0,945	6	0	4	0
chr17	59886182	59886182	T	C	exonic	TUBD1	.	nonsynonymous SNV	TUBD1:NM_001193609:exon3:c.A221G:p.N74S,TUBD1:NM_001193610:exon3:c.A221G:p.N74S,TUBD1:NM_001193611:exon3:c.A221G:p.N74S,TUBD1:NM_016261:exon3:c.A221G:p.N74S	.	429	1083	10	0	0	10	0.00459559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	.	.	0.0135783	0.0064	0.0002	0.0006	0.0001	0	1.499e-05	0.0011	0.0466	0.0056597	875	154602	rs201040289	0.0028	0.0028	0.0015	0.0042	0.0453	0.0028	0.0027	0.0441	0.0437	2.987e-05	0.0002	0	5.039e-05	0	0.0019	5.756e-05	0.0025	0.0453	0.0017	0.0017	0.0009	0.0025	0.0516	0.0015	0.0015	0.0464	0.0443	7.227e-05	0	0	0	0	0	0	5.881e-05	0.0005	0.0516	0.58	0.06502	T	0.819	0.03840	T	0.0	0.02946	B	0.004	0.10090	B	0.001951	0.37596	N	0.327620	1	0.81001	D	0.405	0.12330	N	-0.29	0.67712	T	-0.2	0.19085	N	0.103	0.10911	-0.9818	0.34585	T	0.108	0.39221	T	10	0.003237158	0.00055	T	.	.	.	0.182	0.45420	.	.	0.684108107852	0.68141	0.09561636850495012	0.09493	0.0844985976365	0.09546	0.277904838324	0.07202	T	0.02796	0.20362	T	-0.578542	0.00197	T	-0.570231	0.15428	T	0.0374760786522541	0.03239	T	0.829717	0.49530	T	0.025332084	0.01460	0.02642607	0.00731	0.025332084	0.01459	0.02642607	0.00731	-5.346	0.40396	T	.	.	0.057	0.01109	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.279079	0.16785	12.76	0.99702145262555797	0.80729	0.76077	0.37285	D	AEFBCI	0.268109	0.38467	N	-0.244188195687849	0.31335	1.756045	-0.000410278594400869	0.39697	2.357733	0.00351535450105958	0.10154	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	4.97	0.65419	1.099000	0.30625	0.315000	0.17124	0.661000	0.55757	1.000000	0.71638	0.997000	0.33255	0.998000	0.85391	0.0:0.166:0.2871:0.5469	2.730	0.04902	475	0.77788	.;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;.;.;.;Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain;Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.000000	0.000000	0.000000	0.000000	0.008621	0.006135	0.022727	0.05	1304.43	36	chr17	59886182	.	T	C	1304.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.061;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=2.83;SOR=0.629	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr17	60265460	60265460	A	C	exonic	USP32	.	nonsynonymous SNV	USP32:NM_032582:exon9:c.T942G:p.D314E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00733263283939	.	.	3.314e-05	0	0	0	0	4.517e-05	0	6.118e-05	2.59e-05	4	154602	rs761800769	2.552e-05	2.531e-05	2.199e-05	2.909e-05	4.667e-05	1.883e-05	1.644e-05	1.59e-05	1.038e-05	0	0	0	0	0.0002	0	1.904e-05	3.336e-05	4.667e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	9.411e-05	0	1.47e-05	0	0	1.0	0.00964	T	1.0	0.03527	T	0.002	0.09854	B	0.003	0.08700	B	0.010457	0.29920	N	0.404849	0.982645	0.26591	N	0	0.06538	N	-0.21	0.66294	T	0.39	0.05810	N	0.199	0.23632	-1.0002	0.29860	T	0.092	0.34983	T	10	0.09371677	0.16608	T	0.007333	0.19442	T	0.037	0.09474	0.335	0.32329	0.416204396243	0.41236	0.0867721144153729	0.08611	0.275674334688	0.30043	0.424254953861	0.28422	T	0.017813	0.14467	T	-0.255131	0.13476	T	-0.496597	0.22701	T	0.0283072766994533	0.01732	T	0.825917	0.48908	T	0.029829772	0.02543	0.028195513	0.01033	0.029829772	0.02542	0.028195513	0.01033	-4.332	0.43995	T	.	.	0.115	0.22969	B	.;.;.	.;.;.	2.635029	0.34271	19.58	0.38158535885883749	0.02557	0.76997	0.37811	D	AEFGBI	0.149322	0.27339	N	-0.718640537986293	0.15498	0.7815753	-0.528061741343322	0.21392	1.157052	6.11890489439074E-4	0.07460	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.97	2.58	0.30011	0.407000	0.20770	1.775000	0.28667	0.691000	0.84096	0.968000	0.34134	0.999000	0.35428	0.998000	0.85391	0.6975:0.0:0.1605:0.142	4.706	0.12228	748	0.52143	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	642.43	34	chr17	60265460	.	A	C	642.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.35;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=-0.947;SOR=0.732	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	9	0	1	0
chr17	60466382	60466382	T	C	exonic	APPBP2	.	nonsynonymous SNV	APPBP2:NM_001282476:exon4:c.A368G:p.D123G,APPBP2:NM_006380:exon5:c.A581G:p.D194G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0382456661025	.	0.000399361	0.0009	0	0	0	0	0	0.0011	0.0068	0.0007697	119	154602	rs527990986	0.0004	0.0004	0.0002	0.0006	0.0061	0.0003	0.0003	0.0056	0.0055	0	2.236e-05	0	0	0	0.0005	0	0.0002	0.0061	0.0001	0.0001	2.569e-05	0.0003	0.0043	9.141e-05	7.698e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.152	0.24468	T	0.362	0.16865	T	0.034	0.20480	B	0.019	0.18783	B	0.000000	0.84330	D	0.084546	1	0.81001	D	0.895	0.22405	L	-1.01	0.76168	T	-1.33	0.33197	N	0.555	0.58031	-0.6331	0.63439	T	0.299	0.67008	T	10	0.010114312	0.00226	T	0.038246	0.58108	D	0.350	0.67142	.	.	0.692213622676	0.68957	0.5213180295643729	0.52054	1.10781785835	0.77950	0.759954571724	0.75922	T	0.088271	0.38122	T	-0.259815	0.12921	T	-0.143371	0.59825	T	0.0828146110360638	0.10343	T	0.913009	0.68959	D	0.35710093	0.57615	0.25916505	0.51660	0.35710093	0.57615	0.25916505	0.51660	-4.24	0.27327	T	.	.	0.097	0.15921	B	.	.	3.906765	0.56943	23.8	0.98778308896737088	0.46080	0.98270	0.81120	D	AEFBI	0.883658	0.81274	D	-0.0166508395534706	0.41103	2.45257	0.17206293584783	0.48324	3.049721	0.999994964701747	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	7.575000	0.81761	7.839000	0.70444	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.007	0.71180	662	0.61715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	986.43	35	chr17	60466382	.	T	C	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.205;DP=422;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.307;SOR=0.635	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1200	9	0	1	0
chr17	61869922	61869922	C	T	exonic	INTS2	.	nonsynonymous SNV	INTS2:NM_001330417:exon21:c.G2845A:p.V949I,INTS2:NM_001351695:exon21:c.G2845A:p.V949I,INTS2:NM_020748:exon21:c.G2869A:p.V957I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00566404568769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	2.723e-06	4.126e-06	4.498e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.498e-06	0	0	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.069	0.35537	T	0.238	0.25748	T	0.0	0.02946	B	0.001	0.04355	B	0.517444	0.11779	N	0.788732	0.999997	0.08975	N	0	0.06538	N	1.0	0.41392	T	-0.14	0.09135	N	0.098	0.07949	-1.0171	0.24657	T	0.045	0.19437	T	9	0.0576905	0.06667	T	0.005664	0.14651	T	0.021	0.04004	0.172	0.07774	0.102598925029	0.09809	0.0713276513861524	0.07069	0.208494732715	0.23322	0.307826161385	0.11578	T	0.024804	0.18673	T	-0.335231	0.05725	T	-0.719313	0.04829	T	0.0753233408306804	0.09379	T	0.691131	0.30052	T	0.017817244	0.00305	0.03141281	0.01727	0.017817244	0.00305	0.03141281	0.01727	-3.696	0.19259	T	.	.	0.069	0.03736	B	.;.;.;.	.;.;.;.	2.200258	0.28064	17.67	0.91834946819283014	0.21145	0.56627	0.30165	D	AEFBI	0.064981	0.12647	N	-0.79596912451122	0.13414	0.6606697	-0.648582760540556	0.18252	0.9742434	9.26385963429308E-5	0.04910	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	1.51	0.22094	0.867000	0.27621	-0.091000	0.12058	-0.313000	0.06017	0.822000	0.30018	0.000000	0.08366	0.975000	0.56047	0.0:0.4596:0.0:0.5404	5.228	0.14724	40	0.97949	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	788.43	34	chr17	61869922	.	C	T	788.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.905;DP=435;ExcessHet=0;FS=1.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.41;ReadPosRankSum=-0.797;SOR=0.91	GT:AD:DP:GQ:PL	0/1:85,38:123:99:800,0,2086	9	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	260.82	69	chr17	61968034	.	C	G	260.82	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-1.413;DP=565;ExcessHet=4.5998;FS=188.81;InbreedingCoeff=-0.5387;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.49;SOR=10.074	GT:AD:DP:GQ:PL	0/1:34,24:58:77:77,0,388	2	0	6	2
chr17	62690293	62690293	C	T	exonic	MRC2	.	nonsynonymous SNV	MRC2:NM_006039:exon26:c.C3880T:p.R1294C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0176484124096	.	0.000199681	8.648e-06	0	8.77e-05	0	0	0	0	0	1.29e-05	2	154602	rs539957418	8.227e-06	8.209e-06	1.091e-05	5.515e-06	0.0002	4.39e-06	3.47e-06	7.321e-05	5.186e-05	2.991e-05	0.0002	0	5.045e-05	0	0	9.006e-07	0	1.162e-05	4.594e-05	4.593e-05	5.137e-05	4.027e-05	0.0004	2.107e-05	1.525e-05	0.0002	0.0001	2.404e-05	0	0.0004	0	0	0	0	0	0	0	0.064	0.50132	T	0.004	0.74150	D	0.997	0.70673	D	0.803	0.58888	P	0.017349	0.27746	N	0.373963	0.999824	0.49512	D	1.935	0.51832	L	3.13	0.08014	T	-2.42	0.53096	N	0.644	0.67564	-1.1301	0.01777	T	0.033	0.14377	T	10	0.42580107	0.57165	T	0.017648	0.39432	T	0.162	0.41843	0.633	0.76921	0.15499578495	0.15088	.	.	1.26377591243	0.82109	0.485529541969	0.36819	T	0.230974	0.59718	T	-0.268843	0.11886	T	-0.398249	0.33588	T	0.443525642156601	0.30559	T	0.922108	0.72455	D	0.16985986	0.37527	0.083584964	0.19166	0.16985986	0.37527	0.083584964	0.19166	-11.187	0.80674	D	.	.	0.378	0.68322	A	.;.	.;.	5.015552	0.83322	28.0	0.99928894586617079	0.99222	0.75951	0.37215	D	AEFDGBHCI	0.183393	0.31072	N	0.402016605864809	0.61533	4.355767	0.409679747522015	0.62166	4.427685	0.999984245788339	0.51787	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	4.59	4.59	0.56297	1.716000	0.37601	5.793000	0.49883	0.524000	0.24156	0.992000	0.37556	1.000000	0.68203	0.902000	0.43815	0.3328:0.6672:0.0:0.0	10.663	0.44904	552	0.72024	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	558.43	49	chr17	62690293	.	C	T	558.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=437;ExcessHet=0;FS=13.902;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=0.983;SOR=2.262	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,100,1128	9	0	1	0
chr17	63435693	63435693	C	G	exonic	CYB561	.	nonsynonymous SNV	CYB561:NM_001017916:exon4:c.G400C:p.V134L,CYB561:NM_001017917:exon4:c.G400C:p.V134L,CYB561:NM_001330421:exon4:c.G421C:p.V141L,CYB561:NM_001915:exon4:c.G400C:p.V134L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00243883470744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02639	T	1.0	0.04129	T	0.001	0.09854	B	0.001	0.06944	B	0.271515	0.15119	N	0.647905	0.998867	0.23621	N	-1.145	0.00921	N	1.12	0.38718	T	1.3	0.04613	N	0.201	0.23758	-1.0202	0.23649	T	0.022	0.09559	T	10	0.049892396	0.04644	T	0.002439	0.04813	T	0.075	0.21907	0.508	0.60386	0.082315109003	0.07666	0.31807046434523567	0.31720	0.280192948773	0.30498	0.370396524668	0.20889	T	0.066963	0.33080	T	-0.355914	0.04367	T	-0.749022	0.03524	T	0.0540462881326675	0.06196	T	0.725927	0.35329	T	0.026429305	0.01700	0.030777156	0.01576	0.026429305	0.01700	0.030777156	0.01576	-1.52	0.02208	T	0.08005050367732677	0.04002	0.087	0.15564	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	0.371750	0.07437	4.073	0.89929855699295858	0.19228	0.06495	0.12504	N	AEFDGBHCI	0.086571	0.17553	N	-1.32041193364316	0.03442	0.1537629	-1.24136379210236	0.05260	0.2502033	0.999999773003233	0.74766	0.712529	0.81865	0	0.588066	0.40923	0	0.635938	0.45252	0	0.723	0.93126	0	.	.	4.43	-1.44	0.08391	-0.660000	0.05416	-0.235000	0.10642	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.936000	0.47498	0.2525:0.2565:0.2482:0.2428	0.296	0.00247	940	0.13648	Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;.;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane;Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane|Cytochrome b561/ferric reductase transmembrane	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3953.12	128	chr17	63435693	.	C	G	3953.12	.	AC=2;AF=0.1;AN=20;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.88;SOR=1.573	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1239	9	1	0	0
chr17	63545170	63545170	C	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon12:c.C2489A:p.A830D,KCNH6:NM_001278920:exon12:c.C2120A:p.A707D,KCNH6:NM_030779:exon13:c.C2597A:p.A866D,KCNH6:NM_173092:exon13:c.C2330A:p.A777D	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.28902848351	.	0.00159744	0.0014	0.0002	0.0010	0	0	0.0004	0.0022	0.0080	0.0011837	183	154602	rs146648647	0.0008	0.0008	0.0005	0.0011	0.0093	0.0008	0.0008	0.0087	0.0085	2.987e-05	0.0006	0	2.519e-05	1.885e-05	0.0045	0.0002	0.0010	0.0093	0.0005	0.0005	0.0005	0.0005	0.0072	0.0004	0.0004	0.0054	0.0047	7.215e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0072	0.01	0.56456	D	0.175	0.29945	T	0.277	0.34388	B	0.143	0.33763	B	0.013364	0.28863	N	0.328689	0.999433	0.21230	N	1.355	0.33814	L	-5.94	0.99456	D	-1.05	0.27463	N	0.257	0.29313	0.734	0.93600	D	0.915	0.97170	D	10	0.007865697	0.00179	T	0.289028	0.90498	D	0.367	0.68670	.	.	0.643961431749	0.64101	0.39785121735806944	0.39700	0.321312189581	0.34332	0.299728453159	0.10360	T	0.10268	0.41063	T	-0.245589	0.14645	T	-0.119434	0.61850	T	0.0157242416570985	0.00364	T	0.737426	0.35417	T	0.12717558	0.29768	0.13672428	0.32699	0.12717558	0.29768	0.13672428	0.32698	-4.885	0.40081	T	.	.	0.114	0.22680	B	.;.;.;.	.;.;.;.	1.081331	0.14642	11.20	0.90174368681605954	0.19450	0.91553	0.53771	D	AEFBI	0.355748	0.44737	N	-0.713888070430966	0.15630	0.7894164	-0.707119628019298	0.16783	0.8894742	0.808120538033174	0.24307	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.55	2.36	0.28258	1.859000	0.39058	0.512000	0.19089	-0.182000	0.10109	0.721000	0.28831	0.048000	0.21764	0.009000	0.08673	0.0:0.7008:0.1389:0.1602	7.214	0.25127	875	0.30485	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	957.43	34	chr17	63545170	.	C	A	957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.246;DP=388;ExcessHet=0;FS=4.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.849;SOR=0.899	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,967	9	0	1	0
chr17	63699057	63699057	C	T	exonic	LIMD2	.	nonsynonymous SNV	LIMD2:NM_030576:exon3:c.G55A:p.G19S	.	404	1109	9	0	0	9	0.00404131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.018259786244	0.0010	0.000199681	0.0013	0.0006	0.0012	0	0.0002	0.0019	0.0016	0.0006	0.0010867	168	154602	rs199625729	0.0020	0.0020	0.0020	0.0021	0.0025	0.0020	0.0020	0.0024	0.0024	0.0003	0.0007	0	0	9.85e-05	0.0017	0.0025	0.0014	0.0007	0.0012	0.0012	0.0014	0.0011	0.0023	0.0011	0.0010	0.0020	0.0019	0.0003	0	0.0006	0.0003	0	9.459e-05	0.0070	0.0023	0.0005	0.0004	1.0	0.00964	T	1.0	0.10245	T	0.001	0.07471	B	0.0	0.01387	B	0.171426	0.17363	N	0.543405	0.999837	0.49637	D	-0.28	0.03718	N	-0.93	0.75215	T	1.68	0.00591	N	0.117	0.19995	-0.9453	0.41764	T	0.101	0.37392	T	10	0.0048351884	0.00103	T	0.01826	0.40264	T	0.136	0.36778	.	.	0.402471007487	0.39861	0.2260512552945152	0.22520	0.498502261291	0.48324	0.520569205284	0.41707	T	0.006384	0.05814	T	-0.519586	0.00442	T	-0.525602	0.19728	T	0.00236466595125569	0.00024	T	0.519848	0.16911	T	0.024026211	0.01196	0.039776552	0.04147	0.024026211	0.01195	0.039776552	0.04147	-3.156	0.11951	T	.	.	0.071	0.10352	B	.;.;.;.;.	.;.;.;.;.	0.095564	0.04982	1.543	0.87350829412901176	0.17165	0.00882	0.03481	N	AEFDGBHCI	0.122202	0.23724	N	-1.68890620482619	0.00882	0.03816228	-1.67237802133155	0.01265	0.05700937	0.999999984683324	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.594344	0.31042	0	0.621717	0.48901	0	.	.	4.33	-4.88	0.02884	-0.422000	0.07110	-0.206000	0.10898	-0.278000	0.06506	0.000000	0.06391	0.028000	0.21151	0.800000	0.37734	0.0:0.2608:0.0:0.7392	11.562	0.50033	890	0.26919	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.003788	0.05	649.43	25	chr17	63699057	.	C	T	649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.395;DP=238;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.39;ReadPosRankSum=1.35;SOR=0.527	GT:AD:DP:GQ:PL	0/0:22,0:22:54:0,54,810	9	0	1	0
chr17	63872555	63872555	C	T	exonic	CSH2	.	nonsynonymous SNV	CSH2:NM_022644:exon4:c.G478A:p.A160T	.	0	1505	16	0	1	17	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00958917424235	0.0003	0.00179712	0.0013	0.0004	0.0026	0	0	0.0011	0.0033	0.0027	0.0013777	213	154602	rs1811082	0.0007	0.0011	0.0006	0.0007	0.0075	0.0006	0.0006	0.0057	0.0051	0.0004	0.0020	0.0029	0.0001	0	0.0075	0.0005	0.0013	0.0019	0.0009	0.0011	0.0010	0.0008	0.0025	0.0008	0.0007	0.0019	0.0016	0.0003	0	0.0025	0.0055	0	9.429e-05	0.0103	0.0008	0.0033	0.0015	0.028	0.46129	D	0.058	0.46182	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.35	0.88066	D	-0.09	0.08340	N	0.054	0.02559	-0.8368	0.52858	T	0.242	0.61060	T	8	0.006950289	0.00158	T	0.009589	0.25085	T	0.135	0.36572	.	.	0.0846915920261	0.08053	.	.	.	.	.	.	.	.	.	.	-0.414725	0.01850	T	-0.375764	0.36217	T	0.00215468234746831	0.00022	T	0.234876	0.03235	T	.	.	.	.	.	.	.	.	-3.692	0.19200	T	.	.	0.083	0.09433	B	.	.	0.589305	0.09576	6.353	0.72068831384837162	0.09845	0.00182	0.01064	N	AEFI	0.016340	0.00362	N	-1.64488747935536	0.01057	0.04585317	-1.68511492327851	0.01204	0.05423025	2.46848498165473E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.07	-2.18	0.06643	-0.184000	0.09693	-0.664000	0.07966	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2471:0.1768:0.3735:0.2027	0.605	0.00702	875	0.30485	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007431	0.005051	0.012228	0.008197	0.000000	0.017241	0.000000	0.000000	0.05	2838.43	256	chr17	63872555	.	C	T	2838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.555;DP=590;ExcessHet=0;FS=4.194;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.39;MQRankSum=-2.032;QD=11.09;ReadPosRankSum=2.58;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1291	9	0	1	0
chr17	63880586	63880586	C	T	exonic	GH2	.	stopgain	GH2:NM_022557:exon4:c.G642A:p.W214X	.	1	1497	23	1	0	25	0.00828089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.000798722	0.0026	0.0004	0.0021	0	0.0024	0.0033	0.0033	0.0030	0.0023803	368	154602	rs150668018	0.0025	0.0025	0.0024	0.0026	0.0102	0.0024	0.0024	0.0081	0.0074	0.0004	0.0028	0.0014	2.519e-05	0.0030	0.0102	0.0025	0.0027	0.0032	0.0021	0.0021	0.0022	0.0021	0.0031	0.0019	0.0019	0.0028	0.0027	0.0004	0	0.0030	0.0012	0	0.0017	0.0170	0.0031	0.0038	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.00162	N	1929.950000	0.999975	0.53665	D	.	.	.	.	.	.	.	.	.	0.102	0.08506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.187871	0.22573	T	-0.0447461	0.67381	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	0.124428	0.05214	1.722	0.44111833942599404	0.03368	0.02410	0.06819	N	AEFDBI	0.021955	0.01039	N	-0.4385393961644	0.24131	1.300767	-0.830537710644818	0.13755	0.7153523	9.36666290586609E-5	0.04910	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.34	0.194	0.14424	-0.085000	0.11215	-1.672000	0.04943	-0.662000	0.04349	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.8261:0.0:0.1739	7.117	0.24602	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010326	0.000000	0.014986	0.020661	0.000000	0.000000	0.009740	0.011719	0.05	1502.43	40	chr17	63880586	.	C	T	1502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=429;ExcessHet=0;FS=5.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-0.98;QD=15.02;ReadPosRankSum=0.659;SOR=1.277	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1164	9	0	1	0
chr17	63941118	63941118	G	C	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.C5164G:p.L1722V	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680	0.163519316894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.046	0.49120	D	0.996	0.68779	D	0.857	0.61067	P	0.000119	0.50451	D	0.135640	0.999964	0.52935	D	2.73	0.79844	M	-4.06	0.96529	D	-1.92	0.44657	N	0.155	0.16028	1.031	0.97729	D	0.919	0.97305	D	10	0.48320004	0.60554	T	0.163519	0.84284	D	0.680	0.88252	0.503	0.59615	0.888124206545	0.88701	0.6963183111820277	0.69572	0.290016544937	0.31410	0.705196857452	0.67897	T	0.522262	0.83315	D	0.127982	0.67164	D	-0.0539395	0.66752	D	0.958825409412384	0.65372	D	0.894111	0.63286	D	0.60872424	0.73160	0.39797387	0.64398	0.60872424	0.73161	0.39797387	0.64398	-10.23	0.75277	D	0.4184592462782333	0.50760	0.488	0.64011	A	.	.	3.634387	0.51500	23.1	0.99814602528221963	0.89797	0.94137	0.60224	D	AEFDBI	0.707789	0.66241	D	0.547185778434073	0.69911	5.424745	0.475336708998014	0.66359	4.941919	0.999999979227993	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.04	4.04	0.46262	1.790000	0.38366	8.706000	0.78122	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.944000	0.48669	0.0:0.0:1.0:0.0	15.741	0.77655	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1956.43	161	chr17	63941118	.	G	C	1956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.223;DP=1521;ExcessHet=0;FS=1.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=-0.259;SOR=0.828	GT:AD:DP:GQ:PL	0/0:166,0:166:99:0,120,1800	9	0	1	0
chr17	63947952	63947952	C	A	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon17:c.G3256T:p.A1086S	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	0.482694887628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.055	0.86842	M	-5.32	0.98988	D	-2.94	0.61435	D	0.827	0.82257	1.062	0.98383	D	0.979	0.99342	D	10	0.9496289	0.94295	D	0.482695	0.94868	D	0.928	0.98267	0.787	0.90993	0.945478854695	0.94491	0.8086449762040656	0.80819	0.853254466551	0.68643	0.639679074287	0.58518	T	0.957345	0.99426	D	0.363208	0.87496	D	0.283947	0.87334	D	0.995286466825878	0.87152	D	0.929307	0.73951	D	0.8775473	0.89467	0.77428585	0.86681	0.8775473	0.89468	0.77428585	0.86682	-6.717	0.51938	T	0.6003124781764361	0.66732	0.611	0.69341	P	.	.	4.593832	0.72687	25.9	0.99802095972172433	0.88639	0.97957	0.78421	D	AEFDBI	0.943394	0.94919	D	0.865178745699651	0.89954	10.18942	0.775750771320525	0.88062	9.443284	0.999999997095098	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.47	4.47	0.53770	7.844000	0.85149	7.574000	0.60786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.660	0.85096	820	0.40914	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	81.43	38	chr17	63947952	.	C	A	81.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.524;DP=492;ExcessHet=0;FS=63.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.36;SOR=6.183	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,117,1755	9	0	1	0
chr17	63972613	63972613	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon1:c.G229A:p.G77S	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	845904	not_provided|Familial_hyperkalemic_periodic_paralysis|Inborn_genetic_diseases	MedGen:C3661900|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.323	0.0610593970685	8e-05	.	9.711e-05	0	0	0	0	2.465e-05	0	0.0005	5.17e-05	8	154602	rs369547459	3.65e-05	3.762e-05	2.875e-05	4.435e-05	0.0004	2.847e-05	2.582e-05	0.0003	0.0002	3.005e-05	0	0	0	3.785e-05	0	1.716e-05	1.664e-05	0.0004	1.972e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.88	0.48402	P	0.161	0.34794	B	0.000268	0.46590	D	0.225652	0.773184	0.34176	D	1.305	0.32671	L	-3.77	0.95595	D	-0.27	0.11366	N	0.142	0.14196	0.437	0.89646	D	0.670	0.88549	D	10	0.07641485	0.11935	T	0.061059	0.68209	D	0.323	0.64522	.	.	0.729137383923	0.72673	0.703072934731108	0.70248	0.254249402073	0.27993	0.40438747406	0.25679	T	0.294606	0.66729	T	-0.257536	0.13189	T	-0.258278	0.48996	T	0.0743877279463163	0.09254	T	0.961204	0.85427	D	0.08210922	0.18898	0.11282218	0.27224	0.08210922	0.18898	0.11282218	0.27224	-6.408	0.49572	T	0.11671625861070688	0.10582	0.178	0.38924	B	.	.	3.010716	0.40265	21.1	0.74011019777244758	0.10537	0.73543	0.35973	D	AEFGBI	0.500780	0.53390	D	-0.237942804452233	0.31587	1.772691	-0.187484554249199	0.31996	1.816029	0.890099548578371	0.25828	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.33	4.33	0.51083	1.324000	0.33318	4.066000	0.41626	0.549000	0.26987	0.030000	0.20431	0.999000	0.35428	0.929000	0.46594	0.0:1.0:0.0:0.0	15.990	0.79987	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1690.43	38	chr17	63972613	.	C	T	1690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=516;ExcessHet=0;FS=2.784;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.163;SOR=0.784	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	9	0	1	0
chr17	64055764	64055764	G	A	exonic	ERN1	.	nonsynonymous SNV	ERN1:NM_001433:exon13:c.C1583T:p.T528M	.	381	1133	8	0	0	8	0.00351803	.	.	.	2222942	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0158499193337	.	0.000199681	0.0002	0.0001	0.0001	0	0	2.205e-05	0	0.0013	0.0001358	21	154602	rs546366953	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0012	0.0009	2.991e-05	2.265e-05	0	2.527e-05	1.915e-05	0.0021	0.0002	0.0001	0.0011	0.0001	0.0001	0.0002	8.055e-05	0.0010	7.572e-05	6.277e-05	0.0004	0.0003	9.625e-05	0	0	0	0	0	0	0.0001	0	0.0010	0.136	0.26085	T	0.142	0.33330	T	0.017	0.17573	B	0.001	0.04355	B	0.007468	0.31378	N	0.309004	0.996324	0.23049	N	0.205	0.09354	N	0.2	0.60111	T	-0.33	0.12472	N	0.161	0.16864	-1.0574	0.12414	T	0.061	0.25310	T	10	0.0123716295	0.00266	T	0.01585	0.36807	T	0.114	0.32008	.	.	0.401767401478	0.39795	0.2162798800807302	0.21543	0.439492444205	0.43977	0.285005092621	0.08199	T	0.176892	0.52700	T	-0.522025	0.00428	T	-0.568181	0.15617	T	0.0196864910711745	0.00671	T	0.857714	0.54741	D	0.022903724	0.00988	0.044467606	0.05767	0.022903724	0.00988	0.044467606	0.05767	-5.009	0.36938	T	.	.	0.077	0.06479	B	.	.	2.304195	0.29484	18.14	0.96727146315015444	0.30873	0.40896	0.26538	N	AEFDBI	0.142514	0.26498	N	-0.578639723423026	0.19595	1.026739	-0.397556632567177	0.25069	1.376499	0.990441978563673	0.32155	0.562547	0.31514	0	0.577304	0.33150	0	0.55559	0.18752	1	0.635551	0.53088	0	.	.	4.97	2.44	0.28875	2.590000	0.45819	1.503000	0.26970	0.654000	0.53741	0.506000	0.27002	0.988000	0.31051	0.572000	0.30699	0.4888:0.0:0.5112:0.0	4.387	0.10753	831	0.39019	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1197.43	36	chr17	64055764	.	G	A	1197.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=430;ExcessHet=0;FS=0.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=2.24;SOR=0.602	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr17	64452651	64452651	A	G	exonic	MILR1	.	nonsynonymous SNV	MILR1:NM_001085423:exon3:c.A152G:p.N51S,MILR1:NM_001291316:exon3:c.A152G:p.N51S,MILR1:NM_001369493:exon3:c.A152G:p.N51S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943724004	0.0003	0.0002	0.0002	0.0004	0.0106	0.0003	0.0002	0.0087	0.0080	0	0	0	0	0	0	2.763e-05	0.0005	0.0106	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0	0	0	1.47e-05	0	0.0081	.	.	.	0.051	0.53788	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.27792	.	.	.	.	.	.	.	0.024773538	0.00693	T	.	.	.	.	.	.	.	.	.	0.05032861406408758	0.04975	.	.	.	.	.	0.015077	0.12713	T	.	.	.	.	.	.	.	.	.	0.712229	0.32987	T	.	.	.	.	.	.	.	.	-5.812	0.44679	T	0.4805473533885539	0.55928	0.108	0.27583	B	.;.;.	.;.;.	2.498316	0.32247	18.98	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.045000	0.29951	1.095000	0.24016	0.720000	0.85370	0.062000	0.21832	0.057000	0.21958	0.836000	0.39433	.	.	.	936	0.14734	Immunoglobulin-like domain;Immunoglobulin-like domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	529.43	34	chr17	64452651	.	A	G	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.725;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.15;ReadPosRankSum=-0.726;SOR=0.703	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1105	9	0	1	0
chr17	64465543	64465543	T	C	splicing	MILR1	NM_001291316:exon5:c.568+2T>C;NM_001291317:exon5:c.583+2T>C;NM_001369493:exon6:c.853+2T>C;NM_001085423:exon6:c.853+2T>C	.	.	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00479233	0.0044	0	0.0009	0.0004	0	8.194e-05	0	0.0273	0.002445	378	154602	rs200081783	0.0013	0.0014	0.0008	0.0019	0.0213	0.0013	0.0013	0.0205	0.0202	0	0.0001	0.0008	5.069e-05	0	0.0010	1.536e-05	0.0014	0.0213	0.0007	0.0007	0.0004	0.0011	0.0220	0.0006	0.0006	0.0186	0.0173	2.406e-05	0	0	0.0003	0.0004	0	0	1.47e-05	0	0.0220	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.313083	0.07480	T	-0.205578	0.54117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	3.624203	0.51305	23.1	0.61302414925877691	0.06675	0.62586	0.31826	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.0859098348252376	0.15994	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.870087	0.53741	4.24	4.24	0.49486	1.199000	0.31842	4.496000	0.43591	0.665000	0.62972	0.978000	0.35038	1.000000	0.68203	0.013000	0.09966	0.0:0.0:0.0:1.0	10.016	0.41186	927	0.17636	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	861.43	33	chr17	64465543	.	T	C	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.41;DP=382;ExcessHet=0;FS=0.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,38:79:99:873,0,936	9	0	1	0
chr17	64586147	64586147	T	C	exonic	SMURF2	.	nonsynonymous SNV	SMURF2:NM_022739:exon6:c.A424G:p.I142V	.	939	577	4	2	0	8	0.00688468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.00508436780846	7.7e-05	0.000798722	0.0005	0	0.0005	0	0	0.0006	0	0.0007	0.0004528	70	154602	rs145845053	0.0004	0.0004	0.0003	0.0004	0.0053	0.0004	0.0003	0.0037	0.0031	0.0002	0.0013	7.665e-05	0	1.875e-05	0.0053	0.0003	0.0007	0.0007	0.0004	0.0004	0.0004	0.0004	0.0021	0.0003	0.0003	0.0015	0.0013	4.81e-05	0	0.0021	0	0	9.416e-05	0.0068	0.0004	0	0.0006	0.717	0.03961	T	0.848	0.03527	T	0.235	0.30743	B	0.18	0.35854	B	0.000000	0.84330	D	0.075997	0.999999	0.58761	D	0.95	0.23787	L	1.0	0.42502	T	0.12	0.05604	N	0.416	0.45615	-1.0518	0.13899	T	0.072	0.29291	T	10	0.024222106	0.00659	T	0.005084	0.12877	T	0.161	0.41658	.	.	0.406146819375	0.40232	0.11133819393929613	0.11062	0.652302273137	0.58425	0.755264341831	0.75225	T	0.055475	0.30017	T	-0.378604	0.03179	T	-0.362166	0.37800	T	0.0469213081306338	0.04951	T	0.904909	0.67324	D	0.10002899	0.23614	0.08177325	0.18610	0.10002899	0.23614	0.08177325	0.18610	-4.304	0.28232	T	.	.	0.099	0.30529	B	.;.	.;.	3.852568	0.55822	23.7	0.97143993252549821	0.32555	0.98370	0.82087	D	AEFBI	0.907018	0.86052	D	0.0289340100920857	0.43173	2.615578	0.233042048140014	0.51689	3.349384	0.999846416847085	0.43971	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.645665	0.59343	0	.	.	5.45	5.45	0.79688	5.707000	0.68023	7.829000	0.70041	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.524	0.75620	939	0.14249	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	448.43	33	chr17	64586147	.	T	C	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=332;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.937;SOR=0.941	GT:AD:DP:GQ:PL	0/0:26,0:26:60:0,60,900	9	0	1	0
chr17	64895162	64895162	G	T	exonic	LRRC37A3	.	nonsynonymous SNV	LRRC37A3:NM_199340:exon4:c.C2096A:p.T699K	.	483	1038	1	0	0	1	0.000481464	.	.	.	3696855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.00691555698345	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1407466641	5.484e-05	6.423e-05	5.761e-05	5.212e-05	0.0003	4.433e-05	4.07e-05	4.783e-05	4.379e-05	0	2.257e-05	0	0	0	0.0003	6.075e-05	0.0001	3.613e-05	3.873e-05	4.989e-05	4.923e-05	2.715e-05	0.0004	1.029e-05	4.85e-06	7.25e-06	2.71e-06	0	0	0	0	0	0	0	4.374e-05	0	0.0004	0.044	0.41096	D	0.036	0.52060	D	0.765	0.43734	P	0.501	0.47677	P	.	.	.	.	1	0.22906	N	2.785	0.81254	M	0.14	0.60854	T	-4.26	0.76174	D	0.187	0.30687	-0.8666	0.50783	T	0.209	0.56839	T	9	0.16004762	0.30056	T	0.006916	0.18289	T	0.097	0.27909	0.288	0.24761	0.0762999501168	0.06990	0.13827700893021289	0.13751	.	.	0.719492316246	0.69972	T	0.114918	0.43311	T	-0.125564	0.32216	T	-0.418141	0.31288	T	0.264114456118625	0.23494	T	0.722228	0.33571	T	0.21868664	0.44383	0.21293445	0.45783	0.21868664	0.44383	0.21293445	0.45782	-8.013	0.61159	D	.	.	0.232	0.47611	B	.;.	.;.	1.632688	0.20842	14.94	0.92521673067682808	0.21963	0.05887	0.11836	N	AEFI	0.061498	0.11761	N	-0.380567168173399	0.26162	1.42572	-0.582824867011016	0.19941	1.07215	7.39948429643802E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	2.04	2.04	0.25787	0.501000	0.22286	-1.487000	0.05328	-0.935000	0.02124	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	7.680	0.27674	934	0.15400	Leucine-rich repeat-containing protein 37, N-terminal;Leucine-rich repeat-containing protein 37, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	306.43	34	chr17	64895162	.	G	T	306.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.1;DP=292;ExcessHet=0;FS=2.078;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.45;MQRankSum=0.547;QD=9.29;ReadPosRankSum=2.31;SOR=1.312	GT:AD:DP:GQ:PL	0/0:26,0:26:72:0,72,1080	9	0	1	0
chr17	65053567	65053567	T	C	exonic	GNA13	.	nonsynonymous SNV	GNA13:NM_001282425:exon2:c.A160G:p.I54V,GNA13:NM_006572:exon2:c.A445G:p.I149V	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0632272270042	0.0002	0.000399361	0.0002	0	0.0003	0.0002	0	0.0002	0	0.0005	0.0002199	34	154602	rs201626569	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0007	0.0005	8.963e-05	0.0002	0	0.0003	1.872e-05	0.0014	0.0003	0.0003	0.0006	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	6.535e-05	0	0	0	0	0.0005	0	0.0002	0.088	0.35349	T	0.125	0.37037	T	0.874	0.48047	P	0.926	0.66095	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.44	0.36004	L	-2.66	0.90272	D	-0.59	0.17624	N	0.359	0.40063	0.708	0.93271	D	0.786	0.92733	D	10	0.15986237	0.30025	T	0.063227	0.68900	D	0.577	0.82912	.	.	0.738346921943	0.73600	0.5162074885067635	0.51543	0.710361414038	0.61678	0.593113064766	0.51934	T	0.388412	0.74909	T	-0.117855	0.33475	T	-0.0708075	0.65568	T	0.0831566354084816	0.10385	T	0.783222	0.42574	T	0.21397711	0.43790	0.114751406	0.27700	0.21397711	0.43790	0.114751406	0.27699	-4.556	0.36644	T	.	.	0.107	0.19879	B	.;.	.;.	2.922234	0.38794	20.8	0.99662929608073791	0.78074	0.96961	0.71893	D	AEFDBHI	0.573232	0.57650	D	0.544900695550755	0.69771	5.40467	0.558676749192964	0.72004	5.741852	0.999999999999393	0.74766	0.744818	0.98587	0	0.672317	0.65289	0	0.732433	0.93434	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	3.968000	0.56516	2.407000	0.32622	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.496	0.75386	603	0.67726	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1118.43	34	chr17	65053567	.	T	C	1118.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=2.01;SOR=0.639	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	9	0	1	0
chr17	65536378	65536378	C	A	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon7:c.G1888T:p.A630S,AXIN2:NM_004655:exon8:c.G2083T:p.A695S	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	3	1516	3	0	0	3	0.000988468	.	.	.	402859	Oligodontia-cancer_predisposition_syndrome|not_provided|AXIN2-related_disorder|Hereditary_cancer-predisposing_syndrome|not_specified|Malignant_tumor_of_breast	MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MedGen:C3661900|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.203	0.0259602392288	7.7e-05	0.000399361	0.0001	0	0	0	0	0	0	0.0010	0.0001229	19	154602	rs140510381	9.648e-05	9.645e-05	6.536e-05	0.0001	0.0014	8.312e-05	7.852e-05	0.0009	0.0008	0	2.237e-05	0	0	0	0.0014	2.698e-05	0.0001	0.0011	5.907e-05	5.905e-05	3.853e-05	8.053e-05	0.0006	3.074e-05	2.208e-05	0.0002	8.992e-05	2.404e-05	0	6.534e-05	0	0	0	0	5.88e-05	0	0.0006	0.494	0.20381	T	0.576	0.10572	T	0.635	0.40310	P	0.14	0.33554	B	0.000031	0.55875	D	0.157578	0.999274	0.48716	D	.	.	.	-0.1	0.64264	T	-0.37	0.14782	N	0.565	0.78546	-0.9280	0.44429	T	0.151	0.47909	T	10	0.0501076	0.04695	T	0.02596	0.48901	D	0.203	0.48915	.	.	0.548022476061	0.54458	0.3028207375143608	0.30195	0.438787105072	0.43904	0.656439304352	0.60900	T	0.252994	0.62346	T	-0.196533	0.21306	T	-0.105523	0.62967	T	0.0572892616370493	0.06736	T	0.923708	0.72135	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.35726	B	.;.;.	.;.;.	3.861600	0.56000	23.7	0.99037057214820112	0.50939	0.95258	0.64026	D	AEFDGBCI	0.582171	0.58190	D	0.144223376187249	0.48538	3.064919	0.282852381203657	0.54538	3.618497	0.999999999956578	0.74766	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.528226	0.09195	0	.	.	5.41	5.41	0.78313	2.494000	0.44988	7.572000	0.60737	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9237:0.0:0.0763	12.529	0.55453	914	0.21048	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1287.43	34	chr17	65536378	.	C	A	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.057;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.592;SOR=0.749	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1375	9	0	1	0
chr17	65537801	65537801	T	C	exonic	AXIN2	.	nonsynonymous SNV	AXIN2:NM_001363813:exon6:c.A1235G:p.N412S,AXIN2:NM_004655:exon6:c.A1235G:p.N412S	Colorectal cancer, somatic;Oligodontia-colorectal cancer syndrome, Autosomal dominant	0	1450	68	4	0	76	0.0255376	.	.	.	140180	Oligodontia-cancer_predisposition_syndrome|Colorectal_cancer|not_specified|AXIN2-related_disorder|Hereditary_cancer-predisposing_syndrome|not_provided	MONDO:MONDO:0012075,MedGen:C1837750,OMIM:608615,Orphanet:300576|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MedGen:CN169374|.|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	.	0.0052	0.0109824	0.0255	0.0118	0.0246	0	0.0163	0.0171	0.0403	0.0720	0.0087386	1351	154602	rs115931022	0.0081	0.0082	0.0071	0.0091	0.0413	0.0079	0.0079	0.0402	0.0397	0.0049	0.0042	0.0110	5.144e-05	0.0075	0.0123	0.0060	0.0088	0.0413	0.0066	0.0066	0.0059	0.0075	0.0373	0.0063	0.0062	0.0328	0.0311	0.0045	0.0088	0.0046	0.0107	0	0.0074	0.0068	0.0064	0.0061	0.0373	0.711	0.04032	T	0.978	0.03232	T	0.0	0.02946	B	0.0	0.01387	B	0.564828	0.11299	N	0.831754	1	0.08975	N	.	.	.	-1.56	0.81815	D	0.92	0.01573	N	0.036	0.01911	-0.9358	0.43272	T	0.156	0.48790	T	10	0.0022900105	0.00034	T	.	.	.	0.119	0.33137	.	.	0.317667799068	0.31381	0.05896677085188693	0.05837	0.137606114231	0.15513	0.506385922432	0.39717	T	0.213036	0.57424	T	-0.588971	0.00170	T	-0.590929	0.13586	T	0.000142969275675003	0.00001	T	0.591241	0.21771	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.;.;.	.;.;.	-0.233198	0.02926	0.426	0.40458132405281355	0.02856	0.00666	0.02877	N	AEFBHCI	0.017376	0.00451	N	-1.31904659681124	0.03457	0.1544737	-1.27316756167192	0.04796	0.2271101	0.999999724797711	0.74766	0.631515	0.41029	0	0.653731	0.59785	0	0.697927	0.64325	0	0.491896	0.07777	0	.	.	4.9	1.49	0.21966	0.023000	0.13424	0.568000	0.19578	-1.413000	0.01131	0.000000	0.06391	0.272000	0.24054	0.001000	0.02609	0.2494:0.4817:0.1226:0.1463	2.543	0.04444	913	0.21160	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007606	0.005155	0.004087	0.017544	0.050000	0.000000	0.003106	0.015152	0.05	1176.43	39	chr17	65537801	.	T	C	1176.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.312;DP=586;ExcessHet=0;FS=0.726;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=-0.564;SOR=0.665	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	9	0	1	0
chr17	65902253	65902253	G	A	exonic	CEP112	.	stopgain	CEP112:NM_001302891:exon18:c.C1936T:p.R646X,CEP112:NM_001353128:exon18:c.C1936T:p.R646X,CEP112:NM_001199165:exon20:c.C2062T:p.R688X,CEP112:NM_001353127:exon20:c.C2062T:p.R688X,CEP112:NM_001353129:exon20:c.C2065T:p.R689X	.	428	1092	1	1	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0	8.681e-05	0	0	3.001e-05	0	0.0007	9.7e-05	15	154602	rs147238839	9.099e-05	9.098e-05	4.356e-05	0.0001	0.0010	7.824e-05	7.306e-05	0.0009	0.0008	2.987e-05	6.709e-05	0	0.0001	0	0	2.428e-05	0.0001	0.0010	6.583e-05	6.57e-05	2.573e-05	0.0001	0.0010	3.522e-05	2.62e-05	0.0004	0.0003	2.418e-05	0	0	0	0	0.0003	0	1.471e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.002130	0.37183	N	0.228496	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.172	0.18376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345844	0.86225	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	10.027894	0.99518	44	0.99745999079182024	0.83852	0.95627	0.65481	D	AEFBI	0.116351	0.22838	N	0.93812664074982	0.93498	12.07966	0.836161004257832	0.92180	11.282	0.841558383587104	0.24876	0.638212	0.43195	0	0.588066	0.40923	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.84	5.84	0.93373	6.466000	0.73458	11.702000	0.94515	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.857:0.143	14.934	0.70586	227	0.91186	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1381.43	34	chr17	65902253	.	G	A	1381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=435;ExcessHet=0;FS=6.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=1.5;SOR=0.338	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1000	9	0	1	0
chr17	67109406	67109406	T	C	exonic	HELZ	.	nonsynonymous SNV	HELZ:NM_001330447:exon29:c.A4202G:p.Q1401R,HELZ:NM_014877:exon29:c.A4199G:p.Q1400R	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.0235666447607	7.9e-05	.	4.14e-05	0	0	0	0	5.993e-05	0	6.056e-05	3.23e-05	5	154602	rs374438335	3.147e-05	3.147e-05	3.675e-05	2.613e-05	0.0002	2.412e-05	2.157e-05	2.54e-05	2.224e-05	0	4.472e-05	0	0	0	0.0002	3.417e-05	6.623e-05	1.159e-05	2.626e-05	2.625e-05	3.854e-05	1.343e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.94e-05	0.0005	0	0.162	0.23541	T	0.777	0.04372	T	0.281	0.32101	B	0.06	0.26717	B	0.000000	0.84330	D	0.000000	0.99923	0.46406	D	1.65	0.42232	L	-1.75	0.83495	D	-0.6	0.17834	N	0.362	0.42443	-0.4222	0.71319	T	0.386	0.74121	T	10	0.13737032	0.26131	T	0.023567	0.46536	T	0.356	0.67691	.	.	0.418638904736	0.41481	0.5081724066312158	0.50739	0.175126151092	0.19720	0.36485004425	0.20089	T	0.090076	0.38509	T	-0.0514423	0.44228	T	-0.125766	0.61326	T	0.0502128453772337	0.05538	T	0.761124	0.38584	T	0.22795604	0.45506	0.16237104	0.37720	0.22795604	0.45506	0.16237104	0.37719	-7.11	0.54832	T	.	.	0.114	0.28348	B	.;.	.;.	2.246091	0.28689	17.88	0.95780011122263609	0.27802	0.93035	0.57162	D	AEFGBI	0.343513	0.43930	N	-0.00615416198436297	0.41577	2.489312	0.170950299768431	0.48262	3.044582	0.999999999773283	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	2.855000	0.48032	3.357000	0.37830	0.568000	0.28809	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	16.330	0.82837	550	0.72197	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	905.43	43	chr17	67109406	.	T	C	905.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.328;DP=437;ExcessHet=0;FS=0.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.48;ReadPosRankSum=-0.392;SOR=0.78	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	9	0	1	0
chr17	67825999	67825999	G	-	exonic	BPTF	.	frameshift deletion	BPTF:NM_004459:exon1:c.275delG:p.R95Efs*142,BPTF:NM_182641:exon1:c.275delG:p.R95Efs*142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	8.368e-05	0.0001	0.0002	7.863e-05	7.129e-05	6.598e-05	5.792e-05	0.0002	0	0.0001	0.0002	0.0005	0	8.82e-05	4.74e-05	0	0	1.378e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	34.54	2	chr17	67825998	.	CG	C	34.54	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.842;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=5.76;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	7	0	1	2
chr17	67992921	67992921	A	G	exonic	C17orf58	.	stoploss	C17orf58:NM_181656:exon2:c.T226C:p.X76R	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0068	0.00319489	0.0077	0.0011	0.0056	0	0.0026	0.0118	0.0089	0.0024	0.0075808	1172	154602	rs190313223	0.0086	0.0086	0.0087	0.0086	0.0182	0.0085	0.0085	0.0154	0.0143	0.0011	0.0046	0.0116	2.519e-05	0.0026	0.0182	0.0101	0.0082	0.0021	0.0063	0.0063	0.0066	0.0059	0.0106	0.0059	0.0058	0.0099	0.0097	0.0018	0	0.0042	0.0144	0	0.0020	0.0102	0.0106	0.0057	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.014	0.00160	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.741056	0.00020	T	-0.824928	0.01355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207906	0.05916	2.358	0.59305894313049745	0.06193	0.02565	0.07104	N	AEFDGBHCI	.	.	.	-0.929955126842265	0.10146	0.4834939	-1.13365104741547	0.07065	0.3422861	0.999998403543863	0.74766	0.08998	0.02334	0	0.090139	0.02499	0	0.054209	0.00285	2	0.143876	0.04018	0	0.116346	0.24258	2.72	-1.23	0.08977	-0.321000	0.08060	-0.793000	0.07406	-0.212000	0.08331	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4314:0.2196:0.1354:0.2136	0.473	0.00499	909	0.22467	.	.	.	C17orf58	Heart_Atrial_Appendage	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013609	0.000000	0.016304	0.017544	0.050000	0.017241	0.015337	0.018939	0.05	1350.43	35	chr17	67992921	.	A	G	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.85;DP=443;ExcessHet=0;FS=2.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.47;ReadPosRankSum=0.092;SOR=0.499	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1161	9	0	1	0
chr17	68433508	68433508	C	T	exonic	WIPI1	.	nonsynonymous SNV	WIPI1:NM_001320772:exon7:c.G514A:p.E172K,WIPI1:NM_017983:exon8:c.G760A:p.E254K	.	435	1083	4	0	0	4	0.00184332	.	.	.	2384855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.382	0.0998048311896	0.0002	.	0.0002	9.61e-05	0	0	0	0.0002	0.0011	0.0002	0.0001358	21	154602	rs375682247	0.0001	0.0001	0.0001	9.488e-05	0.0038	9.092e-05	8.598e-05	0.0026	0.0022	2.987e-05	2.236e-05	0	0	0	0.0038	9.982e-05	0.0002	9.275e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.75e-05	8.263e-05	0.0001	7.896e-05	9.64e-05	0	6.548e-05	0	0	0	0.0102	0.0002	0.0005	0.0002	0.001	0.78490	D	0.007	0.69154	D	0.999	0.77913	D	0.866	0.61580	P	0.000002	0.62929	D	0.098479	1	0.81001	D	2.045	0.56016	M	0.81	0.69158	T	-3.75	0.71157	D	0.852	0.84817	-0.6884	0.60983	T	0.259	0.62955	T	10	0.564413	0.64969	D	0.099805	0.77169	D	0.382	0.69946	.	.	0.63145417221	0.62843	0.7856730729427183	0.78518	0.835685596605	0.67809	0.832173705101	0.86895	D	0.12585	0.56553	T	0.152161	0.69471	D	0.260228	0.86101	D	0.361298680305481	0.27460	T	0.922708	0.76517	D	0.7075556	0.78473	0.60327226	0.76944	0.7075556	0.78474	0.60327226	0.76945	-11.182	0.80647	D	.	.	0.906	0.83140	P	.;.;.	.;.;.	5.267578	0.88442	29.6	0.99936320603779605	0.99621	0.98405	0.82440	D	AEFBI	0.923596	0.90031	D	0.695854033433705	0.79359	7.061397	0.673726576736109	0.80389	7.287874	0.999999999999537	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.08	5.08	0.68373	7.415000	0.79344	7.472000	0.59162	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:1.0:0.0:0.0	18.724	0.91669	932	0.16191	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.005051	0.006793	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	1328.43	35	chr17	68433508	.	C	T	1328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.784;DP=433;ExcessHet=0;FS=0.692;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.694;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	9	0	1	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V,ABCA8:NM_001375772:exon18:c.C1004T:p.A335V,ABCA8:NM_007168:exon18:c.C2306T:p.A769V,ABCA8:NM_001288986:exon19:c.C2426T:p.A809V,ABCA8:NM_001288985:exon20:c.C2426T:p.A809V	.	437	1049	35	1	0	37	0.0173302	.	.	.	3886771	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	964	0.07719	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.026515	0.1	2308.14	37	chr17	68903472	.	G	A	2308.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.206;DP=474;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.072;SOR=0.689	GT:AD:DP:GQ:PL	0/1:55,37:92:99:836,0,1329	8	0	2	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P,ABCA10:NM_080282:exon13:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	117.73	36	chr17	69194391	.	T	G	117.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-3.796;DP=654;ExcessHet=0;FS=628.102;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=0.164;SOR=9.19	GT:AD:DP:GQ:PL	./.:51,0:51:0:0,0,1136	7	0	1	2
chr17	69201536	69201536	G	A	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon10:c.C1139T:p.P380L,ABCA10:NM_080282:exon11:c.C1139T:p.P380L	.	.	.	.	.	.	.	.	.	.	.	3654616	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.296	0.0488937626971	.	.	2.513e-05	0	0	0.0001	0	3.018e-05	0	0	2.59e-05	4	154602	rs754390363	1.515e-05	1.779e-05	8.221e-06	2.216e-05	0.0001	9.92e-06	8.47e-06	3.474e-05	1.999e-05	3.033e-05	0	0	0.0001	0	0	1.263e-05	1.669e-05	2.386e-05	6.578e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.056	0.38185	T	0.004	0.74150	D	0.416	0.35222	B	0.059	0.26602	B	0.004631	0.33547	U	0.000000	0.978462	0.39464	D	2.405	0.69568	M	-2.42	0.88611	D	-8.76	0.97728	D	0.313	0.35301	0.258	0.86883	D	0.634	0.87195	D	10	0.21374503	0.37876	T	0.048894	0.63575	D	0.296	0.61616	0.297	0.26202	0.760363118371	0.75817	0.2896127180240505	0.28874	0.044890219653	0.04851	0.459521412849	0.33245	T	0.057139	0.30484	T	-0.123666	0.32526	T	-0.189712	0.55616	T	0.766408383846283	0.44225	D	0.884611	0.60805	D	0.20670599	0.42853	0.28325626	0.54317	0.20670599	0.42853	0.28325626	0.54316	-6.806	0.52603	T	.	.	0.088	0.11510	B	.	.	3.071715	0.41293	21.3	0.99189506371971659	0.54935	0.95188	0.63763	D	AEFI	0.394292	0.47160	N	-0.0237721558886285	0.40781	2.427737	-0.00611033897366024	0.39437	2.338393	1.73813684249877E-4	0.05786	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.78	2.78	0.31702	4.342000	0.59122	7.384000	0.58471	0.527000	0.24520	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	0.0:0.208:0.792:0.0	9.966	0.40894	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	489.43	36	chr17	69201536	.	G	A	489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=356;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-0.216;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,823	9	0	1	0
chr17	69216249	69216249	A	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon7:c.T640C:p.F214L,ABCA10:NM_080282:exon8:c.T640C:p.F214L	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	.	7.7e-05	0.00279553	0.0025	0.0002	0.0160	0.0042	0.0060	0.0006	0.0011	0.0001	0.002128	329	154602	rs146540010	0.0010	0.0010	0.0011	0.0010	0.0110	0.0010	0.0010	0.0102	0.0099	8.966e-05	0.0110	0	0.0101	0.0066	0	0.0002	0.0008	6.964e-05	0.0014	0.0014	0.0009	0.0018	0.0062	0.0012	0.0012	0.0045	0.0039	0.0002	0	0.0037	0	0.0062	0.0080	0	0.0003	0.0014	0	0.063	0.36709	T	0.057	0.46406	T	0.267	0.31683	B	0.344	0.42549	B	0.003370	0.35041	U	0.000000	1	0.08975	N	2.88	0.83451	M	-1.66	0.82715	D	-4.94	0.81835	D	0.287	0.32481	-0.2868	0.75354	T	0.492	0.80727	T	10	0.008529007	0.00193	T	.	.	.	0.381	0.69863	0.374	0.38667	0.202086224978	0.19791	0.23306834098943174	0.23221	0.0523461774483	0.05764	0.469741284847	0.34644	T	0.282223	0.65496	T	-0.273755	0.11342	T	-0.155619	0.58744	T	0.0858461603260738	0.10717	T	0.89951	0.64815	D	0.40862107	0.61325	0.51277333	0.71845	0.40862107	0.61326	0.51277333	0.71846	-7.062	0.54486	T	.	.	0.666	0.71562	P	.	.	1.522449	0.19545	14.32	0.98789376668985696	0.46269	0.02520	0.07022	N	AEFI	0.045523	0.07454	N	-0.609304996247237	0.18664	0.9707909	-0.795088634469938	0.14615	0.7645752	7.29573119437111E-6	0.01202	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.34	-0.607	0.11033	0.996000	0.29320	-0.256000	0.10466	-0.731000	0.03728	0.008000	0.17931	0.000000	0.08366	0.326000	0.25110	0.4563:0.5437:0.0:0.0	9.665	0.39143	937	0.14592	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1429.43	36	chr17	69216249	.	A	G	1429.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.168;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-2.171;SOR=0.66	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1228	9	0	1	0
chr17	69301211	69301213	TAA	-	exonic	ABCA5	.	nonframeshift deletion	ABCA5:NM_018672:exon8:c.1193_1195del:p.I398del,ABCA5:NM_172232:exon9:c.1193_1195del:p.I398del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1416.39	33	chr17	69301210	.	GTAA	G	1416.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.22;DP=375;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.85;ReadPosRankSum=-0.678;SOR=0.527	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,926	9	0	1	0
chr17	72124022	72124022	C	A	exonic	SOX9	.	nonsynonymous SNV	SOX9:NM_000346:exon3:c.C1165A:p.P389T	Acampomelic campomelic dysplasia, Autosomal dominant;Campomelic dysplasia, Autosomal dominant;Campomelic dysplasia with autosomal sex reversal, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1328877	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.0870135506429	.	.	3.46e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs753584114	1.786e-05	2.052e-05	1.093e-05	2.488e-05	0.0003	1.243e-05	1.056e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.17069	T	0.318	0.19246	T	0.361	0.33905	B	0.034	0.22546	B	0.015566	0.28211	U	0.334519	0.999785	0.49076	D	2.015	0.55033	M	-1.07	0.76948	T	-1.76	0.41618	N	0.035	0.01004	-0.7585	0.57487	T	0.217	0.57928	T	10	0.12680069	0.24110	T	0.087014	0.74851	D	0.138	0.37187	0.176	0.08257	0.588800658163	0.58555	0.2300194752723587	0.22916	1.02818934709	0.75339	0.824259519577	0.85681	D	0.514728	0.82914	D	-0.332174	0.05949	T	-0.390978	0.34438	T	0.109951011836529	0.13418	T	0.782722	0.41876	T	0.25632077	0.48670	0.1608238	0.37440	0.25632077	0.48670	0.1608238	0.37439	-4.689	0.33270	T	0.21170665445218886	0.28391	0.073	0.04764	B	.;.	.;.	2.457989	0.31662	18.81	0.98938200706727808	0.48883	0.67125	0.33320	D	AEFDGBHCI	0.387455	0.46743	N	-0.389616575337592	0.25838	1.40561	-0.269054394373061	0.29123	1.629192	0.999999999999998	0.74766	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.63947	0.58350	0	.	.	4.18	4.18	0.48473	1.565000	0.35993	3.856000	0.40113	0.524000	0.24156	0.639000	0.28076	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.108	0.81046	963	0.08280	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	988.43	36	chr17	72124022	.	C	A	988.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=395;ExcessHet=0;FS=3.297;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0.935;SOR=1.136	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1061	9	0	1	0
chr17	73196607	73196607	A	G	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon2:c.A416G:p.Q139R	Congenital disorder of glycosylation, type IIg	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00375586574043	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs751246825	3.42e-06	3.42e-06	1.361e-06	5.5e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.15823	T	0.826	0.04636	T	0.002	0.09854	B	0.004	0.10090	B	0.000323	0.45700	N	0.192145	0.995773	0.42850	D	1.69	0.43327	L	1.93	0.22881	T	-1.67	0.39887	N	0.078	0.05287	-1.0488	0.14733	T	0.038	0.16246	T	10	0.069664806	0.10027	T	0.003756	0.08713	T	0.066	0.19193	0.409	0.44395	0.18995819373	0.18626	.	.	0.11206063664	0.12641	0.32307934761	0.13887	T	0.023954	0.22746	T	-0.307302	0.07988	T	-0.58234	0.14336	T	0.158192068338394	0.17737	T	0.729327	0.34443	T	0.068919614	0.15055	0.08269268	0.18892	0.068919614	0.15055	0.08269268	0.18892	-3.902	0.22333	T	0.17596894045100178	0.22429	0.063	0.01387	B	.;.	.;.	1.750119	0.22263	15.55	0.80178556987178384	0.13081	0.87059	0.46487	D	AEFDBHCI	0.179040	0.30632	N	-0.59113664408779	0.19212	1.00376	-0.500853710675711	0.22130	1.200523	0.999843352585562	0.43971	0.712529	0.81865	0	0.702456	0.74545	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	4.9	1.42	0.21524	3.739000	0.54795	1.321000	0.25603	0.756000	0.94297	1.000000	0.71638	0.585000	0.25641	0.931000	0.46843	0.6809:0.0:0.3191:0.0	9.075	0.35676	476	0.77720	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	804.43	35	chr17	73196607	.	A	G	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.374;DP=661;ExcessHet=0;FS=0.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.12;ReadPosRankSum=0.576;SOR=0.783	GT:AD:DP:GQ:PL	0/0:73,0:73:99:0,120,1800	9	0	1	0
chr17	73201862	73201862	G	A	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon7:c.G2035A:p.V679M	Congenital disorder of glycosylation, type IIg	.	.	.	.	.	.	.	.	.	.	1446402	COG1_congenital_disorder_of_glycosylation	MONDO:MONDO:0012637,MedGen:C2931011,OMIM:611209,Orphanet:263508	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00487490657069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229728305	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.319e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	4.496e-06	1.656e-05	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.344e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.221	0.18889	T	0.232	0.33780	T	0.336	0.33356	B	0.013	0.16460	B	0.000198	0.48115	D	0.148036	0.872728	0.35594	D	1.495	0.37439	L	1.91	0.23283	T	-0.1	0.08495	N	0.039	0.01274	-1.0419	0.16741	T	0.044	0.19111	T	10	0.10020012	0.18233	T	0.004875	0.12224	T	0.017	0.02790	0.242	0.17524	0.301789629655	0.29801	.	.	0.108429119813	0.12225	0.362176299095	0.19703	T	0.007546	0.11823	T	-0.24086	0.15239	T	-0.486901	0.23716	T	0.207738071680069	0.20834	T	0.889711	0.62218	D	0.055862147	0.10912	0.07928001	0.17834	0.055862147	0.10912	0.07928001	0.17834	-3.52	0.16713	T	0.07055172326588655	0.02735	0.080	0.13783	B	.;.	.;.	2.045765	0.26006	16.97	0.90705341072837375	0.19956	0.51207	0.28842	D	AEFDBCIJ	0.133686	0.25343	N	-0.192578300364029	0.33443	1.897368	-0.112845440726949	0.34872	2.010841	0.992240826757666	0.32771	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.44	3.36	0.37579	2.392000	0.44087	1.544000	0.27247	0.618000	0.50648	0.992000	0.37556	0.905000	0.28034	0.896000	0.43308	0.0:0.4735:0.4079:0.1186	9.422	0.37722	466	0.78352	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	950.43	39	chr17	73201862	.	G	A	950.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.521;DP=427;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.056;SOR=0.636	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr17	73208375	73208375	A	G	exonic	COG1	.	nonsynonymous SNV	COG1:NM_018714:exon14:c.A2867G:p.Q956R	Congenital disorder of glycosylation, type IIg	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.0171117305825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.162	0.23541	T	0.302	0.20228	T	0.911	0.50336	P	0.473	0.46845	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	1.85	0.24472	T	-0.88	0.23808	N	0.855	0.85132	-1.0858	0.06263	T	0.091	0.34737	T	10	0.73663557	0.74666	D	0.017112	0.38673	T	0.200	0.48430	0.379	0.39482	0.400468435593	0.39662	.	.	0.534834994756	0.50872	0.537371754646	0.44075	T	0.035774	0.23850	T	0.123064	0.66678	D	-0.0610041	0.66262	T	0.813271037649624	0.47280	D	0.880612	0.59878	D	0.3434767	0.56555	0.2530628	0.50947	0.3434767	0.56555	0.2530628	0.50946	-1.755	0.02378	T	.	.	0.169	0.37121	B	.	.	4.116440	0.61489	24.3	0.9976649973125612	0.85500	0.97634	0.76048	D	AEFDBCI	0.906027	0.85828	D	0.58575844758797	0.72285	5.781735	0.642925759467489	0.78087	6.80578	0.999999999692492	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	8.441000	0.90175	11.290000	0.92000	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	16.822	0.85699	453	0.79178	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1112.43	36	chr17	73208375	.	A	G	1112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.59;DP=428;ExcessHet=0;FS=6.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.386;SOR=1.252	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1308	9	0	1	0
chr17	73235565	73235565	-	TAAGATGATAGGACCA	exonic	C17orf80	.	stopgain	C17orf80:NM_001100621:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001100622:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001288770:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001288771:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001351264:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_001351265:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*,C17orf80:NM_017941:exon3:c.83_84insTAAGATGATAGGACCA:p.T34*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2921.39	33	chr17	73235565	.	G	GTAAGATGATAGGACCA	2921.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.081;DP=760;ExcessHet=0;FS=2.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.61;ReadPosRankSum=1.98;SOR=0.8	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,119,1648	9	0	1	0
chr17	73236035	73236035	C	G	exonic	C17orf80	.	nonsynonymous SNV	C17orf80:NM_001100621:exon3:c.C553G:p.Q185E,C17orf80:NM_001100622:exon3:c.C553G:p.Q185E,C17orf80:NM_001288770:exon3:c.C553G:p.Q185E,C17orf80:NM_001288771:exon3:c.C553G:p.Q185E,C17orf80:NM_001351264:exon3:c.C553G:p.Q185E,C17orf80:NM_001351265:exon3:c.C553G:p.Q185E,C17orf80:NM_017941:exon3:c.C553G:p.Q185E	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00582151915491	.	0.000599042	0.0004	0	0	0	0	3.006e-05	0	0.0029	0.0003363	52	154602	rs564081929	0.0002	0.0002	9.12e-05	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0	0.0003	3.597e-06	9.935e-05	0.0030	0.0001	0.0001	8.997e-05	0.0001	0.0035	7.088e-05	5.745e-05	0.0022	0.0018	0	0	0	0	0	0	0	0	0	0.0035	0.01	0.57480	D	0.456	0.12740	T	0.986	0.62824	D	0.775	0.59428	P	0.964496	0.08201	N	0.983418	1	0.08975	N	1.73	0.44655	L	1.65	0.27650	T	-1.87	0.43717	N	0.132	0.18376	-0.9349	0.43409	T	0.129	0.43706	T	10	0.0052781403	0.00115	T	0.005822	0.15131	T	0.075	0.21907	0.221	0.14371	0.117506650769	0.11410	0.017400652245767905	0.01695	0.170355777682	0.19206	.	.	.	0.028578	0.20668	T	-0.584994	0.00180	T	-0.616758	0.11442	T	0.110148750082047	0.13439	T	0.879912	0.61165	D	0.114024684	0.26923	0.14102693	0.33597	0.114024684	0.26922	0.14102693	0.33597	-2.947	0.09893	T	.	.	0.069	0.04277	B	.;.;.;.;.;.	.;.;.;.;.;.	2.943975	0.39155	20.9	0.94835533305519348	0.25619	0.12933	0.17566	N	AEFBI	0.054220	0.09838	N	-0.349276361158344	0.27299	1.496629	-0.481408430147474	0.22666	1.232253	0.991877320968134	0.32639	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.14	1.57	0.22490	0.799000	0.26688	2.364000	0.32389	-0.214000	0.08267	0.091000	0.22601	0.999000	0.35428	0.989000	0.64315	0.0:0.5384:0.4616:0.0	13.789	0.62620	416	0.81733	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	924.43	33	chr17	73236035	.	C	G	924.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.256;DP=662;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.509;SOR=0.418	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,119,1648	9	0	1	0
chr17	73350247	73350247	G	C	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon43:c.C6028G:p.L2010V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00389150208567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.184e-07	1.45e-06	0	1.864e-06	3.653e-05	0	0	.	.	3.653e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.02832	T	0.63	0.07196	T	0.0	0.02946	B	0.001	0.04355	B	0.000828	0.41547	D	0.163209	0.758269	0.29566	N	0	0.06538	N	0.34	0.58176	T	-0.14	0.12099	N	0.157	0.16308	-1.0444	0.16000	T	0.045	0.19275	T	10	0.11116895	0.20806	T	0.003892	0.09148	T	0.044	0.11924	0.317	0.29419	0.409533910539	0.40566	0.1565458422726856	0.15575	0.245839564261	0.27107	0.684024453163	0.64847	T	0.010942	0.09827	T	-0.261622	0.12710	T	-0.613578	0.11696	T	0.108988514530317	0.13318	T	0.922508	0.71813	D	0.026471697	0.01709	0.03421714	0.02451	0.026471697	0.01709	0.03421714	0.02450	-5.561	0.42434	T	.	.	0.116	0.23395	B	.;.	.;.	2.064548	0.26254	17.05	0.95998155094599669	0.28408	0.76742	0.37662	D	AEFGBI	0.147421	0.27109	N	-0.590754058430144	0.19223	1.004472	-0.358646527947232	0.26242	1.448234	0.976984664691974	0.29777	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.53	2.23	0.27189	1.334000	0.33433	2.982000	0.35844	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1917:0.0:0.439:0.3692	4.547	0.11485	486	0.77016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	778.43	36	chr17	73350247	.	G	C	778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.626;DP=418;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.97;MQRankSum=0;QD=11.12;ReadPosRankSum=-1.954;SOR=1.051	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1094	9	0	1	0
chr17	73423412	73423412	C	T	exonic	SDK2	.	nonsynonymous SNV	SDK2:NM_001144952:exon14:c.G1871A:p.R624H	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00584993893565	0.0003	0.000199681	0.0001	0.0009	0	0	0	0	0	0	4.53e-05	7	154602	rs147076298	2.587e-05	3.557e-05	2.556e-05	2.618e-05	0.0005	1.894e-05	1.681e-05	0.0003	0.0002	0.0005	0	0	0	0	0	1.769e-05	1.744e-05	1.332e-05	0.0001	0.0001	0.0001	9.395e-05	0.0003	6.505e-05	5.318e-05	0.0002	0.0002	0.0003	0	0	0.0006	0	0	0	0	0	0	0.164	0.23360	T	0.189	0.28575	T	0.001	0.07471	B	0.007	0.12992	B	0.000000	0.84330	D	0.054136	0.999999	0.58761	D	0.82	0.20857	L	0.39	0.57419	T	-0.35	0.12847	N	0.301	0.34012	-1.0590	0.12007	T	0.098	0.36600	T	10	0.039037645	0.02364	T	0.00585	0.15221	T	0.063	0.18251	.	.	0.575180444326	0.57186	0.35306431544063743	0.35220	0.377242744359	0.39159	0.36747944355	0.20470	T	0.037086	0.24346	T	-0.404015	0.02179	T	-0.438621	0.28963	T	0.103108546121319	0.12696	T	0.873613	0.58243	D	0.102301024	0.24172	0.09714098	0.23110	0.102301024	0.24172	0.09714098	0.23110	-6.457	0.49953	T	.	.	0.080	0.07650	B	.	.	3.463664	0.48288	22.6	0.9977809181700652	0.86519	0.89738	0.50397	D	AEFDGBI	0.275792	0.39067	N	-0.140896045913342	0.35623	2.048541	0.0852427269849397	0.43806	2.674762	0.176962221584233	0.17817	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.83	4.68	0.58319	1.828000	0.38750	1.050000	0.23629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:0.9244:0.0:0.0756	15.816	0.78379	474	0.77851	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	1985.12	63	chr17	73423412	.	C	T	1985.12	.	AC=2;AF=0.1;AN=20;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.51;SOR=0.724	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1276	9	1	0	0
chr17	74253227	74253227	C	T	exonic	TTYH2	.	nonsynonymous SNV	TTYH2:NM_052869:exon6:c.C443T:p.P148L,TTYH2:NM_001330453:exon12:c.C1343T:p.P448L,TTYH2:NM_032646:exon12:c.C1406T:p.P469L	.	420	1098	4	0	0	4	0.00181818	.	.	.	2431664	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0869067520025	7.7e-05	.	2.512e-05	0	0	0	0	4.54e-05	0	0	4.53e-05	7	154602	rs139572666	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	9.446e-05	0.0002	0.0002	0	4.634e-05	7.73e-05	0.0002	0	0.0007	0.0001	0.0002	0.0003	4.599e-05	4.597e-05	6.422e-05	2.69e-05	0.0004	2.109e-05	1.527e-05	7.285e-05	3.027e-05	0	0	0	0	0.0002	0	0	5.88e-05	0	0.0004	0.003	0.68238	D	0.003	0.76473	D	0.999	0.90584	D	0.881	0.66815	P	0.000001	0.84330	D	0.056131	1	0.81001	D	2.425	0.70256	M	2.77	0.26588	T	-4.11	0.81107	D	0.588	0.62018	-0.8381	0.52773	T	0.153	0.48343	T	10	0.6229635	0.68083	D	0.086907	0.74831	D	0.340	0.66202	.	.	0.347217280506	0.34334	0.6014720877794381	0.60078	0.469923097092	0.46284	0.563187539577	0.47718	T	0.376394	0.78668	T	-0.139307	0.30000	T	-0.145733	0.59619	T	0.643932580947876	0.38203	D	0.927707	0.73352	D	0.29059124	0.52047	0.24117856	0.49509	0.29059124	0.52047	0.24117856	0.49508	-6.77	0.52336	T	.	.	0.096	0.16800	B	.;.;.	.;.;.	4.664345	0.74481	26.2	0.99868715557063359	0.94637	0.99226	0.93090	D	AEFDGBI	0.913819	0.87634	D	0.611169462980644	0.73879	6.038952	0.528498571352983	0.69915	5.429048	0.999999982222728	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.65	4.65	0.57626	7.626000	0.82344	4.839000	0.45267	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.623000	0.31974	0.0:1.0:0.0:0.0	16.463	0.83913	726	0.54788	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1217.43	40	chr17	74253227	.	C	T	1217.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=427;ExcessHet=0;FS=3.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.685;SOR=0.415	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1307	9	0	1	0
chr17	74344842	74344842	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon7:c.G664A:p.A222T	.	400	1113	9	0	0	9	0.00402685	.	.	.	727408	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.722	0.131045244326	0.0019	0.00139776	0.0026	0.0004	0.0015	0	0.0009	0.0032	0.0081	0.0043	0.002445	378	154602	rs34016821	0.0023	0.0023	0.0021	0.0024	0.0063	0.0022	0.0022	0.0047	0.0041	0.0003	0.0018	0.0046	2.519e-05	0.0010	0.0063	0.0022	0.0026	0.0047	0.0019	0.0019	0.0019	0.0019	0.0041	0.0017	0.0017	0.0027	0.0023	0.0003	0	0.0030	0.0049	0	0.0008	0.0204	0.0026	0.0019	0.0041	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.995	0.92359	D	.	.	.	.	1	0.81001	D	1.985	0.53793	M	-0.78	0.73631	T	-4.0	0.74051	D	0.623	0.63798	0.099	0.84154	D	0.541	0.83065	D	9	0.035112053	0.01746	T	0.131045	0.81326	D	0.722	0.90191	.	.	0.895603428102	0.89457	0.5371819583033458	0.53643	0.680600731235	0.60007	0.598223686218	0.52653	T	0.392017	0.75179	T	-0.128646	0.31715	T	0.0421518	0.73068	D	0.0362551188062024	0.03025	T	0.810219	0.75038	T	0.52735984	0.68680	0.6823055	0.81327	0.52735984	0.68681	0.6823055	0.81328	-10.858	0.78873	D	.	.	0.958	0.87779	P	.;.	.;.	5.712651	0.93179	33	0.99921471427946362	0.98787	0.95128	0.63540	D	AEFDGBI	0.740181	0.68451	D	0.637508803447298	0.75562	6.328073	0.604808948241817	0.75289	6.284179	0.999999999996387	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.631631	0.49550	0	.	.	5.49	5.49	0.81022	5.476000	0.66520	8.282000	0.76904	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.200	0.89769	773	0.48803	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.002725	0.008772	0.000000	0.000000	0.000000	0.011364	0.05	411.43	36	chr17	74344842	.	G	A	411.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.994;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.53;ReadPosRankSum=-1.093;SOR=0.776	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1109	9	0	1	0
chr17	74372572	74372572	C	T	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon4:c.C1097T:p.P366L,GPR142:NM_001331077:exon4:c.C1097T:p.P366L,GPR142:NM_181790:exon4:c.C1361T:p.P454L	.	431	1072	18	1	0	20	0.00924214	.	.	.	2808330	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.0173496799223	0.0037	0.00159744	0.0043	0.0018	0.0037	0.0001	0.0008	0.0064	0.0062	0.0017	0.0039456	610	154602	rs140397567	0.0050	0.0049	0.0049	0.0050	0.0057	0.0049	0.0048	0.0055	0.0055	0.0012	0.0045	0.0051	0.0001	0.0010	0.0042	0.0057	0.0054	0.0017	0.0040	0.0040	0.0043	0.0037	0.0057	0.0038	0.0037	0.0053	0.0051	0.0018	0.0307	0.0052	0.0058	0.0002	0.0005	0.0034	0.0057	0.0043	0.0014	0.396	0.10623	T	0.288	0.21144	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.6	0.40776	L	-0.26	0.67187	T	-0.53	0.16393	N	0.081	0.05670	-1.0246	0.22214	T	0.099	0.36957	T	9	0.0063492656	0.00143	T	0.01735	0.39013	T	0.041	0.10877	.	.	0.455909487837	0.45213	0.18651384417242733	0.18569	0.117002942572	0.13191	0.265333026648	0.05543	T	0.006776	0.06208	T	-0.565623	0.00235	T	-0.581529	0.14409	T	0.00308196130042475	0.00032	T	0.447055	0.12542	T	0.013799263	0.00070	0.031015558	0.01634	0.013799263	0.00070	0.031015558	0.01634	-3.986	0.23594	T	.	.	0.065	0.01934	B	.	.	-0.182750	0.03181	0.521	0.40642597587774743	0.02881	0.00903	0.03537	N	AEFBI	0.054018	0.09785	N	-1.35594138810062	0.03064	0.1362827	-1.40841692912964	0.03167	0.1472094	0.0371806132958303	0.14283	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	-2.64	0.05757	-0.539000	0.06202	-2.401000	0.03800	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3702:0.0:0.6298	9.998	0.41081	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	1288.14	43	chr17	74372572	.	C	T	1288.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.07;DP=418;ExcessHet=0.2348;FS=6.662;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.05;SOR=1.333	GT:AD:DP:GQ:PL	0/1:28,24:52:99:588,0,586	8	0	2	0
chr17	74560754	74560754	C	T	exonic	CD300H	.	nonsynonymous SNV	CD300H:NM_001324073:exon4:c.G553A:p.G185S	.	899	608	12	3	0	18	0.0145867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00599042	.	.	.	.	.	.	.	.	0.0009508	147	154602	rs138914131	0.0078	0.0041	0.0080	0.0076	0.0236	0.0075	0.0074	0.0192	0.0176	0.0018	0.0032	0.0078	0.0005	0.0258	0.0062	0.0067	0.0068	0.0236	0.0064	0.0064	0.0050	0.0078	0.0212	0.0060	0.0059	0.0179	0.0166	0.0009	0	0.0025	0.0078	0.0006	0.0311	0.0068	0.0062	0.0052	0.0212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1379.43	40	chr17	74560754	.	C	T	1379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.08;ReadPosRankSum=-0.312;SOR=0.697	GT:AD:DP:GQ:PL	0/1:88,64:152:99:1391,0,1896	9	0	1	0
chr17	74850229	74850229	C	T	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon6:c.G1468A:p.V490I,GRIN2C:NM_001278553:exon6:c.G1468A:p.V490I	.	393	1103	26	0	0	26	0.0116487	.	.	.	717898	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0018	0.00678914	0.0045	0.0004	0.0017	0	0.0002	0.0024	0.0022	0.0214	0.0039909	617	154602	rs11575879	0.0026	0.0026	0.0021	0.0032	0.0195	0.0026	0.0025	0.0188	0.0184	0.0002	0.0017	0.0055	2.519e-05	0.0001	0.0094	0.0015	0.0038	0.0195	0.0024	0.0024	0.0021	0.0027	0.0222	0.0022	0.0021	0.0188	0.0175	0.0004	0	0.0039	0.0066	0.0002	0.0002	0.0204	0.0021	0.0028	0.0222	0.33	0.13131	T	0.283	0.22084	T	0.012	0.16265	B	0.006	0.12133	B	0.000493	0.43931	D	0.153988	0.866566	0.35484	D	0.46	0.12951	N	0.73	0.50721	T	-0.65	0.18877	N	0.137	0.20129	-1.0197	0.23812	T	0.078	0.31193	T	10	0.010271847	0.00229	T	.	.	.	0.062	0.17934	.	.	0.611931882649	0.60880	0.35387566347811217	0.35301	0.388676200589	0.40129	0.45320802927	0.32382	T	0.122326	0.44591	T	-0.595195	0.00156	T	-0.611476	0.11864	T	0.00969551111577982	0.00127	T	0.872813	0.58002	D	0.04485722	0.07242	0.039610934	0.04095	0.04485722	0.07242	0.039610934	0.04095	-6.864	0.53033	T	.	.	0.066	0.02313	B	.;.	.;.	3.849150	0.55744	23.6	0.96348833222253172	0.29510	0.74886	0.36645	D	AEFDBHCI	0.151619	0.27614	N	-0.257822359323592	0.30791	1.720286	-0.103504293223801	0.35248	2.037063	0.797738837798166	0.24130	0.653496	0.48692	0	0.613122	0.52510	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.06	3.09	0.34677	1.861000	0.39078	3.904000	0.40368	0.599000	0.40250	0.965000	0.33920	0.999000	0.35428	0.997000	0.79791	0.1604:0.7485:0.0:0.0911	8.195	0.30550	895	0.25842	Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain;Ionotropic glutamate receptor, L-glutamate and glycine-binding domain|Ionotropic glutamate receptor|Ionotropic glutamate receptor, L-glutamate and glycine-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.005051	0.004087	0.011696	0.000000	0.008621	0.006098	0.037879	0.05	1728.43	34	chr17	74850229	.	C	T	1728.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.005;DP=521;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.77;ReadPosRankSum=0.052;SOR=0.481	GT:AD:DP:GQ:PL	0/1:98,79:177:99:1740,0,2299	9	0	1	0
chr17	74854900	74854900	G	A	exonic	GRIN2C	.	nonsynonymous SNV	GRIN2C:NM_000835:exon2:c.C193T:p.L65F,GRIN2C:NM_001278553:exon2:c.C193T:p.L65F	.	430	1048	39	5	0	49	0.0228438	.	.	.	729756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.029	0.0106221511673	0.0049	0.00259585	0.0050	0.0008	0.0026	0	0.0032	0.0068	0.0035	0.0051	0.0048512	750	154602	rs78349823	0.0063	0.0063	0.0061	0.0065	0.0197	0.0062	0.0061	0.0167	0.0156	0.0010	0.0029	0.0036	0	0.0038	0.0197	0.0070	0.0059	0.0055	0.0045	0.0045	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0061	0.0012	0.0022	0.0051	0.0055	0	0.0030	0.0272	0.0069	0.0076	0.0027	0.008	0.58626	D	0.017	0.60337	D	0.93	0.51791	P	0.573	0.49966	P	0.020133	0.27106	N	0.344090	0.837722	0.28673	N	1.79	0.46772	L	2.77	0.11407	T	-1.76	0.41618	N	0.14	0.14905	-1.1322	0.01680	T	0.027	0.11397	T	10	0.009157836	0.00207	T	0.010622	0.27366	T	0.029	0.06676	.	.	0.726739929651	0.72432	0.49833384254028434	0.49754	1.19053074043	0.80270	0.541441082954	0.44649	T	0.235419	0.60267	T	-0.598941	0.00148	T	-0.629108	0.10482	T	0.0149162963541447	0.00317	T	0.789321	0.42944	T	0.114562035	0.27043	0.15262114	0.35901	0.114562035	0.27043	0.15262114	0.35900	-8.72	0.65877	D	.	.	0.100	0.28086	B	.;.	.;.	4.403692	0.68060	25.2	0.97318716847729081	0.33365	0.91189	0.53035	D	AEFBI	0.310797	0.41671	N	0.315904096523676	0.56964	3.862214	0.307413121967798	0.55973	3.760336	0.100368974678565	0.16352	0.580535	0.33130	0	0.626922	0.53725	0	0.616487	0.41570	0	0.530356	0.10902	0	.	.	4.4	3.36	0.37579	2.755000	0.47219	5.486000	0.48735	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.903000	0.43903	0.0:0.3511:0.3869:0.262	6.989	0.23927	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012097	0.005051	0.009511	0.023392	0.000000	0.025862	0.012195	0.011364	0.1	1757.14	33	chr17	74854900	.	G	A	1757.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.489;DP=417;ExcessHet=0.2348;FS=2.996;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=1.13;SOR=0.782	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1050	8	0	2	0
chr17	74931085	74931085	C	T	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon6:c.C1450T:p.P484S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00751464351678	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1210880166	2.052e-06	2.052e-06	0	4.126e-06	2.32e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	1.872e-05	0	0	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.425	0.13912	T	0.57	0.38545	P	0.133	0.33073	B	0.495406	0.12010	N	0.765925	0.620569	0.32701	D	1.12	0.28775	L	3.01	0.09075	T	0.15	0.05310	N	0.089	0.07262	-1.0394	0.17495	T	0.014	0.05417	T	10	0.084610164	0.14200	T	0.007515	0.19926	T	0.082	0.23913	0.382	0.39970	0.0611884634855	0.05136	0.3528539628892104	0.35199	0.188836824056	0.21202	0.382409214973	0.22598	T	0.005991	0.05431	T	-0.388954	0.02732	T	-0.695852	0.06055	T	0.0713237078918236	0.08835	T	0.423358	0.11306	T	0.02680129	0.01785	0.05504888	0.09583	0.02680129	0.01784	0.05504888	0.09582	-3.188	0.12334	T	.	.	0.081	0.08272	B	.;.	.;.	1.268098	0.16667	12.69	0.48984956677338404	0.04133	0.79884	0.39675	D	AEFBI	0.234497	0.35725	N	-0.822414885101916	0.12739	0.6228641	-0.778821866394629	0.15014	0.7875259	0.999288450485403	0.39007	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.96	2.98	0.33575	1.647000	0.36876	2.622000	0.33640	-0.175000	0.10903	0.648000	0.28154	0.288000	0.24148	0.005000	0.06747	0.0:0.8526:0.0:0.1474	11.429	0.49275	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1170.43	38	chr17	74931085	.	C	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=443;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.961;SOR=0.453	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr17	74935803	74935803	T	C	exonic	OTOP3	.	startloss	OTOP3:NM_178233:exon1:c.T2C:p.M1?	.	429	1058	35	0	0	35	0.0162715	.	.	.	2808352	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.307	0.240900684133	0.0028	0.000399361	0.0059	0	0.0074	0	0	0.0065	0	0.0075	0.000815	126	154602	rs368367098	0.0028	0.0027	0.0027	0.0029	0.0201	0.0027	0.0027	0.0171	0.0160	0.0005	0.0017	0.0002	0	0.0011	0.0201	0.0029	0.0034	0.0036	0.0019	0.0019	0.0019	0.0019	0.0028	0.0017	0.0017	0.0025	0.0024	0.0004	0.0022	0.0023	0.0003	0	0.0016	0.0374	0.0028	0.0038	0.0017	.	.	.	.	.	.	0.932	0.51990	P	0.775	0.57058	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-1.1759	0.00434	T	0.046	0.19599	T	8	0.013410479	0.00284	T	0.240901	0.88694	D	.	.	.	.	.	.	0.35152649025108534	0.35066	.	.	.	.	.	0.003197	0.02596	T	-0.281902	0.10467	T	-0.177991	0.56708	T	0.0652697690357915	0.07971	T	0.9	0.65058	D	0.8545362	0.87673	0.72875154	0.83974	0.8545362	0.87674	0.72875154	0.83975	-6.006	0.46330	T	.	.	.	.	.	.	.	2.574557	0.33367	19.32	0.95942560923393894	0.28247	0.66934	0.33252	D	AEFDBHCI	0.200952	0.32764	N	0.342361878231728	0.58337	4.005367	0.318435499155554	0.56623	3.825909	0.997488613492816	0.35668	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	4.08	4.08	0.46880	1.947000	0.39919	4.911000	0.45953	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	9.377	0.37453	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006494	0.000000	0.000000	0.022936	0.000000	0.000000	0.000000	0.000000	0.05	375.43	33	chr17	74935803	.	T	C	375.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=397;ExcessHet=0;FS=1.316;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.068;SOR=1.127	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr17	74947158	74947158	G	A	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon6:c.G1249A:p.V417M,OTOP3:NM_178233:exon6:c.G1303A:p.V435M	.	427	1018	75	2	0	79	0.0373522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	.	0.0015	0.0061901	0.0060	0.0004	0.0020	0	0.0005	0.0021	0.0100	0.0331	0.0052134	806	154602	rs36036654	0.0029	0.0029	0.0020	0.0038	0.0305	0.0028	0.0028	0.0296	0.0292	0.0002	0.0019	0.0160	0.0002	0.0006	0.0175	0.0006	0.0045	0.0305	0.0020	0.0020	0.0013	0.0028	0.0306	0.0019	0.0018	0.0266	0.0251	0.0004	0	0.0017	0.0135	0.0004	0.0002	0.0102	0.0009	0.0024	0.0306	0.099	0.30656	T	.	.	.	1.0	0.90584	D	0.995	0.83170	D	0.000007	0.62929	D	0.000000	0.999656	0.48079	D	3.115	0.87836	M	1.8	0.25344	T	-0.87	0.23590	N	.	.	-0.7817	0.56206	T	0.167	0.50632	T	10	0.012928009	0.00276	T	.	.	.	0.325	0.64725	.	.	0.629528454764	0.62650	0.41167949801164166	0.41083	0.222252166983	0.24760	0.715541243553	0.69397	T	0.018344	0.14803	T	-0.331264	0.06016	T	-0.225617	0.52195	T	0.0528079158904391	0.05987	T	0.89491	0.63503	D	0.24908622	0.47901	0.29670504	0.55704	0.24908622	0.47901	0.29670504	0.55703	-7.699	0.59001	D	.	.	0.401	0.59628	A	.;.	.;.	4.544321	0.71454	25.7	0.9990039393200798	0.97199	0.96533	0.69615	D	AEFGBI	0.795704	0.72305	D	0.715737068723012	0.80662	7.344704	0.637523299539449	0.77683	6.727076	0.17361676551724	0.17771	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.54	4.54	0.55220	6.905000	0.75535	8.674000	0.78019	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.524000	0.29567	0.0878:0.0:0.9122:0.0	10.906	0.46288	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.009511	0.023392	0.000000	0.008621	0.009146	0.007576	0.05	2150.43	36	chr17	74947158	.	G	A	2150.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.425;DP=483;ExcessHet=0;FS=5.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.05;ReadPosRankSum=-1.021;SOR=1.204	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr17	75502462	75502462	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C2366T:p.P789L,CASKIN2:NM_020753:exon18:c.C2612T:p.P871L	.	354	1166	2	0	0	2	0.000856898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.222680938321	.	0.000599042	0.0035	0.0020	0.0011	0	0.0054	0.0050	0	0.0022	0.0005304	82	154602	rs201436052	0.0019	0.0017	0.0020	0.0018	0.0022	0.0018	0.0018	0.0022	0.0021	0.0001	0.0003	5.394e-05	5.756e-05	0.0001	0.0002	0.0022	0.0018	0.0006	0.0010	0.0010	0.0010	0.0010	0.0018	0.0009	0.0008	0.0016	0.0015	0.0004	0	0.0004	0	0	0.0003	0	0.0018	0	0.0008	0.002	0.72154	D	0.002	0.79402	D	0.877	0.48223	P	0.139	0.33484	B	0.000300	0.46274	D	0.000000	1	0.81001	D	2.54	0.74080	M	-0.19	0.65931	T	-6.54	0.92942	D	0.449	0.49237	-0.7031	0.60290	T	0.173	0.51548	T	10	0.010706991	0.00237	T	0.222681	0.87866	D	0.142	0.37995	.	.	0.469615867019	0.46589	0.18695933713731536	0.18613	0.608772754758	0.55638	0.810003399849	0.83492	D	0.346391	0.71466	T	-0.0292388	0.47528	T	-0.279776	0.46827	T	0.0771728384102997	0.09621	T	0.884911	0.65300	D	0.5368682	0.69220	0.50823337	0.71580	0.5368682	0.69221	0.50823337	0.71580	-11.16	0.80544	D	.	.	0.344	0.68342	A	.;.	.;.	4.897622	0.80468	27.3	0.99841904518766633	0.92229	0.88654	0.48684	D	AEFDBI	0.537421	0.55523	D	0.162975515610479	0.49429	3.143339	0.191178196401183	0.49363	3.140339	0.99958973567481	0.40607	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	4.87	3.9	0.44240	5.163000	0.64791	9.506000	0.80914	0.513000	0.23382	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0781:0.0:0.9219:0.0	12.969	0.57902	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003122	0.000000	0.002793	0.002959	0.000000	0.000000	0.000000	0.011538	0.05	846.43	50	chr17	75502462	.	G	A	846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.4;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.038;SOR=0.776	GT:AD:DP:GQ:PL	0/1:34,33:67:99:858,0,711	9	0	1	0
chr17	75522195	75522195	G	A	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon8:c.G1114A:p.V372M	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	169410	Olivopontocerebellar_hypoplasia|Inborn_genetic_diseases|Pontocerebellar_hypoplasia_type_4|Pontocerebellar_hypoplasia_type_2A|Pontocerebellar_hypoplasia_type_5|Pontoneocerebellar_hypoplasia|not_provided	Human_Phenotype_Ontology:HP:0006955,Human_Phenotype_Ontology:HP:0007168,MedGen:C1859341|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063|MONDO:MONDO:0010190,MedGen:C1848526,OMIM:277470,Orphanet:2524|MONDO:MONDO:0012438,MedGen:C1857762,OMIM:610204,Orphanet:166068|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	0.118195196703	0.0005	.	0.0008	0.0004	0	0	0	0.0010	0	0.0008	0.0003299	51	154602	rs200434678	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0005	0.0007	0.0005	0.0003	0.0003	0.0002	5.582e-05	0.0004	0.0014	0.0006	0.0007	0.0006	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	4.811e-05	0	0.0002	0.0006	0.0002	0.0003	0	0.0007	0.0019	0.0006	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	-0.07	0.63738	T	-1.59	0.38345	N	0.752	0.75101	-0.0503	0.81200	T	0.458	0.78935	T	10	0.46890467	0.59741	T	0.118195	0.79817	D	0.274	0.59007	.	.	0.759759855957	0.75757	0.5178459661872079	0.51707	0.916772197932	0.71267	0.510220706463	0.40253	T	0.095302	0.39593	T	-0.13534	0.30636	T	-0.0502145	0.67008	D	0.0725286365497002	0.09002	T	0.90031	0.65351	D	0.37145868	0.58692	0.37359306	0.62543	0.37145868	0.58693	0.37359306	0.62542	-5.083	0.37727	T	0.5609203514789229	0.62870	0.703	0.73074	P	.	.	4.254328	0.64600	24.7	0.96142493142276453	0.28841	0.92706	0.56347	D	AEFBCI	0.747140	0.68929	D	0.756492624111109	0.83330	7.988636	0.705659080762641	0.82810	7.859844	0.999999999995956	0.74766	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	7.089000	0.76571	11.800000	0.96626	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.0:0.0:1.0:0.0	19.072	0.93128	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005160	0.010526	0.004190	0.005882	0.000000	0.000000	0.009740	0.000000	0.15	4394.43	87	chr17	75522195	.	G	A	4394.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.014;DP=854;ExcessHet=0;FS=2.325;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=27.29;ReadPosRankSum=1.57;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,47:88:99:.:.:1216,0,998:.	8	1	1	0
chr17	75610930	75610930	G	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon22:c.G4303A:p.E1435K	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0036	0	0	0	0	0	0.0063	0.0062	0.0003622	56	154602	rs550740455	0.0007	0.0007	0.0004	0.0011	0.0061	0.0007	0.0007	0.0056	0.0054	0.0001	0	0	3.115e-05	0	0.0002	3.47e-05	0.0004	0.0061	0.0003	0.0003	0.0001	0.0004	0.0064	0.0002	0.0002	0.0046	0.0040	0.0001	0	6.535e-05	0	0.0002	0	0	2.94e-05	0	0.0064	.	.	.	0.445	0.92824	T	0.053	0.22573	B	0.003	0.08700	B	.	.	.	.	0.999996	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.004454255	0.00201	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020946	0.16402	T	.	.	.	.	.	.	.	.	.	0.483852	0.21138	T	0.019628298	0.00498	0.047340468	0.06798	0.019628298	0.00497	0.047340468	0.06797	-4.814	0.34754	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	-1.248656	0.00484	0.010	0.32848713269841173	0.01925	0.05120	0.10925	N	AEFDGBHCI	0.078433	0.15824	N	.	.	.	.	.	.	0.999999999999548	0.74766	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	0.926	-1.85	0.07363	-1.593000	0.02200	-3.661000	0.02623	-1.572000	0.00931	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3164:0.3376:0.3461:0.0	2.194	0.03667	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1162.43	35	chr17	75610930	.	G	A	1162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.418;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=0.184;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1016	9	0	1	0
chr17	75613752	75613752	C	A	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon28:c.C5080A:p.L1694M	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0169728	0.0134	0.0217	0	0.0051	0	0	0	0.0199	0.0017723	274	154602	rs139523993	0.0031	0.0028	0.0023	0.0037	0.0201	0.0030	0.0029	0.0183	0.0176	0.0201	0.0015	0	0.0009	0	0.0015	0.0004	0.0032	0.0170	0.0064	0.0064	0.0063	0.0065	0.0197	0.0061	0.0059	0.0180	0.0176	0.0191	0	0.0028	0	0.0033	0	0	0.0003	0.0033	0.0197	.	.	.	0.066	0.54541	T	0.93	0.51791	P	0.365	0.43339	B	.	.	.	.	0.999997	0.08975	P	.	.	.	.	.	.	.	.	.	0.309	0.34874	.	.	.	.	.	.	.	0.0048088133	0.00102	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02609	0.19376	T	.	.	.	.	.	.	.	.	.	0.735926	0.36642	T	0.07234507	0.16086	0.16689095	0.38532	0.07234507	0.16085	0.16689095	0.38531	-8.746	0.66047	D	.	.	0.189	0.40666	B	.;.;.	.;.;.	0.612993	0.09813	6.579	0.87455459359359344	0.17240	0.18351	0.20225	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999528953865247	0.40175	0.262962	0.04601	0	0.304816	0.05638	0	0.117705	0.03188	2	0.24566	0.04862	0	0.206682	0.30772	5.42	-6.25	0.01863	-0.483000	0.06616	-2.720000	0.03431	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.831000	0.39176	0.092:0.1001:0.0:0.8079	12.267	0.54000	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	986.43	36	chr17	75613752	.	C	A	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.099;DP=434;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=0.904;SOR=0.848	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1408	9	0	1	0
chr17	75616381	75616389	AGGAGGAGG	-	exonic	MYO15B	.	nonframeshift deletion	MYO15B:NM_001309242:exon37:c.6065_6073del:p.E2031_E2033del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1386483374	0.0006	0.0005	0.0007	0.0005	0.0090	0.0005	0.0005	0.0077	0.0072	0.0090	0.0014	0	0.0001	3.333e-05	0.0013	0.0003	0.0011	8.63e-05	0.0028	0.0028	0.0030	0.0025	0.0084	0.0025	0.0024	0.0076	0.0073	0.0084	0	0.0032	0	0	0	0	0.0002	0.0034	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4683.74	37	chr17	75616380	.	CAGGAGGAGG	C	4683.74	.	AC=1;AF=0.05;AN=20;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=60;QD=31.3;SOR=0.922	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1112	9	0	1	0
chr17	75626100	75626100	C	T	exonic	MYO15B	.	nonsynonymous SNV	MYO15B:NM_001309242:exon62:c.C8971T:p.R2991C	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	.	0.000798722	0.0008	0.0018	0	0	0.0023	0.0016	0	0.0001	0.0005239	81	154602	rs75081344	0.0026	0.0023	0.0028	0.0025	0.0038	0.0025	0.0025	0.0036	0.0035	0.0005	0.0004	0.0007	0	0.0035	0.0027	0.0038	0.0025	0.0003	0.0022	0.0022	0.0020	0.0023	0.0035	0.0020	0.0019	0.0032	0.0030	0.0009	0	0.0007	0.0003	0	0.0030	0.0102	0.0035	0.0033	0.0002	.	.	.	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.299	0.33796	-0.6758	0.61566	T	0.408	0.75706	T	8	0.004975587	0.00107	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030608	0.21659	T	.	.	.	.	.	.	.	.	.	0.605339	0.22845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09675	B	.;.	.;.	1.540784	0.19760	14.42	0.73641456201959177	0.10402	0.00049	0.00384	N	ALL	.	.	.	-1.1626882262665	0.05574	0.2544628	-1.19380420959418	0.06012	0.2881587	0.999999978956456	0.74766	0.653496	0.48692	0	0.550933	0.16991	0	0.440796	0.06475	0	0.683535	0.66460	0	0.10771	0.23274	5.09	1.56	0.22423	0.165000	0.16380	0.873000	0.22330	-0.972000	0.01937	0.000000	0.06391	0.640000	0.25910	0.001000	0.02609	0.3921:0.1547:0.0:0.4532	3.709	0.07942	976	0.04745	FERM domain;FERM domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	877.43	34	chr17	75626100	.	C	T	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.667;DP=371;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.91;ReadPosRankSum=1.01;SOR=0.869	GT:AD:DP:GQ:PL	0/1:14,35:49:99:889,0,247	9	0	1	0
chr17	75629429	75629429	G	A	exonic	RECQL5	.	nonsynonymous SNV	RECQL5:NM_004259:exon16:c.C1994T:p.P665L	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00489422874464	0.0029	0.00259585	0.0009	0.0079	0.0008	0	0	0.0003	0.0013	0	0.0007956	123	154602	rs201916143	0.0003	0.0003	0.0003	0.0003	0.0068	0.0003	0.0003	0.0060	0.0057	0.0068	0.0011	0	2.604e-05	0	0.0015	0.0001	0.0007	2.956e-05	0.0025	0.0025	0.0027	0.0023	0.0076	0.0023	0.0022	0.0069	0.0066	0.0076	0	0.0032	0	0	0	0	0.0001	0.0038	0	1.0	0.00964	T	0.332	0.18560	T	0.01	0.15535	B	0.009	0.14300	B	0.548855	0.11457	N	0.804399	1	0.08975	N	0.625	0.15840	N	0.86	0.46777	T	-1.21	0.30762	N	0.043	0.01740	-1.0481	0.14932	T	0.039	0.16806	T	10	0.007410139	0.00168	T	0.004894	0.12286	T	0.074	0.21613	.	.	0.358744678677	0.35482	0.17709375427676688	0.17628	0.120506696489	0.13571	0.226647749543	0.01729	T	0.086847	0.37814	T	-0.507757	0.00517	T	-0.497569	0.22601	T	0.00410706811714907	0.00044	T	0.49935	0.26514	T	0.017435107	0.00273	0.021821104	0.00222	0.017435107	0.00272	0.021821104	0.00222	-3.332	0.14153	T	.	.	0.065	0.03552	B	.;.;.;.	.;.;.;.	-0.127380	0.03481	0.650	0.66025398599498064	0.07940	0.07325	0.13346	N	AEFGBHCI	0.059949	0.11360	N	-1.61479879002633	0.01192	0.05183411	-1.64725320836843	0.01390	0.06281301	0.953844460646219	0.28097	0.732398	0.92422	0	0.743671	0.97443	0	0.635938	0.45252	0	0.683762	0.67416	0	.	.	4.96	-4.09	0.03685	0.426000	0.21081	0.800000	0.21650	-1.549000	0.00965	0.001000	0.13787	0.025000	0.21018	0.000000	0.00833	0.5098:0.0:0.2624:0.2278	5.319	0.15177	976	0.04745	.;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5;RecQ helicase-like 5|RecQ helicase-like 5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004115	0.010204	0.006793	0.003311	0.000000	0.000000	0.006098	0.000000	0.05	1153.43	67	chr17	75629429	.	G	A	1153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.857;DP=749;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=0.783;SOR=0.436	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	9	0	1	0
chr17	75740005	75740005	G	A	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon19:c.G2380A:p.V794I,ITGB4:NM_000213:exon20:c.G2380A:p.V794I,ITGB4:NM_001005731:exon20:c.G2380A:p.V794I,ITGB4:NM_001321123:exon20:c.G2380A:p.V794I	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	2687826	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.0213210168191	.	.	0.0001	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs754958134	6.503e-05	6.498e-05	3.814e-05	9.219e-05	0.0010	5.432e-05	5.045e-05	0.0008	0.0008	0	0	0	0	0	0.0005	0	6.624e-05	0.0010	4.598e-05	4.597e-05	2.569e-05	6.723e-05	0.0012	2.109e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.002	0.11217	B	0.000972	0.40836	N	0.210842	0.963823	0.26008	N	-0.515	0.02571	N	-0.84	0.74265	T	0.03	0.06612	N	0.149	0.27910	-0.9893	0.32778	T	0.134	0.44739	T	10	0.020162344	0.00460	T	0.021321	0.44070	T	0.136	0.36778	0.21	0.12781	0.611956068543	0.60883	0.11414468944981494	0.11342	0.23204119155	0.25754	0.286404758692	0.08401	T	0.053916	0.29577	T	-0.485844	0.00685	T	-0.535413	0.18750	T	0.018950384745973	0.00605	T	0.843016	0.51993	T	0.022301989	0.00884	0.024824303	0.00509	0.022301989	0.00884	0.024824303	0.00509	-4.615	0.33125	T	0.08582318276270434	0.04878	0.070	0.06479	B	.;.;.;.	.;.;.;.	1.429213	0.18473	13.75	0.94573622522922873	0.25110	0.63771	0.32194	D	AEFDGBHCI	0.221504	0.34612	N	-0.807813043537061	0.13110	0.6435928	-0.610343478022644	0.19227	1.030661	0.0554815673064774	0.15018	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.94	1.34	0.21018	3.705000	0.54553	3.527000	0.38932	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.7635:0.0:0.2365:0.0	8.394	0.31709	970	0.06235	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	900.43	33	chr17	75740005	.	G	A	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.106;DP=403;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.711;SOR=0.546	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1322	9	0	1	0
chr17	75753902	75753965	CCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGC	-	exonic	ITGB4	.	frameshift deletion	ITGB4:NM_000213:exon33:c.4246_4309del:p.D1418Efs*5	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	42.47	17	chr17	75753901	.	GCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGC	G	42.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.812;DP=194;ExcessHet=0;FS=0;InbreedingCoeff=-0.0589;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=2.2;SOR=0.693	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	9	0	1	0
chr17	75828796	75828796	C	T	exonic	UNC13D	.	nonsynonymous SNV	UNC13D:NM_199242:exon31:c.G3142A:p.A1048T	Hemophagocytic lymphohistiocytosis, familial, 3	2	1516	4	0	0	4	0.00131752	.	.	.	531897	Inborn_genetic_diseases|Familial_hemophagocytic_lymphohistiocytosis_3	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012146,MedGen:C1837174,OMIM:608898,Orphanet:540	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.0277504685914	.	.	0.0002	0	0	0.0020	0	0	0	0.0003	1.94e-05	3	154602	rs758781229	4.668e-05	6.362e-05	3.541e-05	5.827e-05	0.0007	3.753e-05	3.419e-05	0.0002	9.51e-05	0	2.791e-05	0	2.773e-05	0	0.0007	3.431e-05	0.0002	0.0002	3.282e-05	3.281e-05	6.423e-05	0	5.88e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0034	5.88e-05	0	0	0.056	0.40319	T	0.172	0.30241	T	0.414	0.35185	B	0.026	0.20792	B	0.190540	0.16859	N	0.601504	1	0.08975	N	1.735	0.44892	L	-0.36	0.69027	T	-0.56	0.17003	N	0.138	0.14054	-1.0055	0.28307	T	0.132	0.44386	T	10	0.02714479	0.00866	T	0.02775	0.50522	D	0.081	0.23632	0.18	0.08751	0.451118754121	0.44735	0.415447528461492	0.41460	0.0938026689721	0.10595	0.332325816154	0.15286	T	0.076403	0.35409	T	-0.221117	0.17842	T	-0.555396	0.16812	T	0.0709956644946415	0.08789	T	0.585041	0.21304	T	0.04067574	0.05850	0.063032225	0.12424	0.04067574	0.05850	0.063032225	0.12423	-3.383	0.16125	T	0.0942750276413584	0.06291	0.075	0.08368	B	.;.	.;.	1.761488	0.22403	15.61	0.9873053746483802	0.45348	0.01162	0.04188	N	AEFDGBHI	0.047312	0.07954	N	-0.957916849672042	0.09515	0.4507193	-0.968812711271269	0.10490	0.5286572	0.992534279552083	0.32874	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.65	-1.26	0.08892	0.538000	0.22869	-1.368000	0.05605	-0.319000	0.05888	0.003000	0.16062	0.000000	0.08366	0.951000	0.49849	0.0:0.4009:0.0:0.5991	11.174	0.47815	945	0.12563	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005160	0.005376	0.004144	0.009091	0.050000	0.008621	0.006289	0.007692	0.05	1213.43	36	chr17	75828796	.	C	T	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=424;ExcessHet=0;FS=1.598;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.34;SOR=0.647	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1024	9	0	1	0
chr17	75878277	75878277	G	C	exonic	TRIM47	.	nonsynonymous SNV	TRIM47:NM_033452:exon1:c.C272G:p.P91R	.	411	1098	12	1	0	14	0.00633484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	.	0.00698882	0.0556	0.5	.	.	.	0	.	0	0.0004398	68	154602	rs577782968	0.0012	0.0010	0.0012	0.0012	0.0171	0.0011	0.0011	0.0157	0.0151	0.0171	0.0034	0.0110	0	8.509e-05	0.0162	0.0005	0.0038	0.0011	0.0057	0.0057	0.0063	0.0051	0.0167	0.0054	0.0053	0.0157	0.0153	0.0167	0.0011	0.0037	0.0127	0	9.526e-05	0.0342	0.0008	0.0038	0.0004	0.136	0.26085	T	0.034	0.52727	D	0.93	0.51791	P	0.578	0.50118	P	0.050333	0.23081	U	0.219521	1	0.08975	N	1.74	0.45129	L	0.93	0.44065	T	0.48	0.03041	N	0.258	0.29197	-0.8804	0.49730	T	0.092	0.35092	T	10	0.0017648935	0.00023	T	.	.	.	0.054	0.15330	.	.	0.503063991398	0.49945	.	.	2.12493175433	0.95057	0.833705663681	0.87130	D	0.022488	0.17329	T	-0.524503	0.00414	T	-0.511908	0.21119	T	0.0423051338128606	0.04110	T	0.322368	0.06563	T	0.049451187	0.08783	0.1390573	0.33192	0.049451187	0.08782	0.1390573	0.33191	-6.204	0.47955	T	.	.	0.089	0.12228	B	.	.	2.120363	0.26987	17.31	0.98909838452120091	0.48345	0.77563	0.38150	D	AEFDBHCI	0.246767	0.36746	N	-0.066640446153496	0.38862	2.282715	-0.170089722099639	0.32642	1.859201	0.99999962251974	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.372554	0.06265	0	.	.	2.37	2.37	0.28337	1.262000	0.32594	0.658000	0.20477	0.484000	0.22197	0.009000	0.18154	0.000000	0.08366	0.047000	0.14932	0.0:0.0:1.0:0.0	8.343	0.31418	883	0.28872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007991	0.007042	0.000000	0.028037	0.000000	0.000000	0.000000	0.000000	0.1	353.14	35	chr17	75878277	.	G	C	353.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.524;DP=267;ExcessHet=0.2348;FS=3.568;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=1.11;SOR=1.536	GT:AD:DP:GQ:PL	0/1:14,10:24:99:256,0,361	8	0	2	0
chr17	75921991	75921991	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon14:c.G1480A:p.G494R	.	404	1104	13	1	0	15	0.00674764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0008	0.00159744	0.0030	0.0040	0.0073	0	0	0.0040	0.0126	0.0018	0.0006856	106	154602	rs61744136	0.0011	0.0011	0.0010	0.0012	0.0260	0.0011	0.0010	0.0226	0.0213	0.0031	0.0028	0.0115	2.798e-05	6.08e-05	0.0260	0.0006	0.0028	0.0016	0.0015	0.0015	0.0017	0.0013	0.0022	0.0013	0.0013	0.0016	0.0015	0.0019	0.0011	0.0022	0.0124	0	9.418e-05	0.0340	0.0008	0.0014	0.0006	.	.	.	0.367	0.16668	T	0.127	0.26966	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.73	0.44655	L	2.29	0.17113	T	.	.	.	0.075	0.04913	-1.0274	0.21299	T	0.038	0.16203	T	9	0.005048305	0.00109	T	.	.	.	.	.	0.225	0.14960	0.151104730317	0.14643	0.1328563028633864	0.13209	.	.	0.311471223831	0.12129	T	0.024036	0.18239	T	-0.590542	0.00166	T	-0.625352	0.10769	T	0.00954904533907244	0.00124	T	0.716128	0.32863	T	0.042809766	0.06560	0.08133094	0.18473	0.042809766	0.06559	0.08133094	0.18472	-4.674	0.33149	T	.	.	0.109	0.24666	B	.;.;.	.;.;.	1.000004	0.13782	10.33	0.92157115828463076	0.21518	0.07827	0.13821	N	AEFBI	0.035051	0.04446	N	-0.634884174838293	0.17904	0.9252401	-0.656243889262236	0.18059	0.9630712	0.201818496286435	0.18132	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.6	4.4	0.52402	0.214000	0.17331	2.441000	0.32772	0.599000	0.40250	0.000000	0.06391	0.026000	0.21063	0.008000	0.08271	0.0:0.8541:0.0:0.1459	8.111	0.30072	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013189	0.005051	0.019366	0.031646	0.000000	0.000000	0.010204	0.004808	0.1	3053.14	33	chr17	75921991	.	C	T	3053.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.036;DP=561;ExcessHet=0.2348;FS=3.325;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.65;SOR=0.787	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1361,0,1326	8	0	2	0
chr17	75925371	75925371	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon12:c.G944A:p.R315Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0244943281272	.	.	8.57e-06	0	0	0	0	0	0	6.171e-05	1.29e-05	2	154602	rs768348404	6.161e-06	6.84e-06	6.811e-06	5.504e-06	2.239e-05	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	2.239e-05	0	0	0	0	6.297e-06	0	1.16e-05	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.092	0.39954	T	0.605	0.66517	P	0.072	0.52604	B	.	.	.	.	0.819881	0.34760	D	2.325	0.66631	M	1.44	0.32722	T	.	.	.	0.17	0.18103	-0.5265	0.67673	T	0.180	0.52644	T	9	0.19739434	0.35668	T	0.024494	0.47488	T	.	.	0.451	0.51285	0.258779203287	0.25495	0.12326812372106681	0.12252	.	.	0.282617986202	0.07860	T	0.102051	0.40940	T	-0.245941	0.14600	T	-0.490424	0.23347	T	0.783793091773987	0.45289	D	0.80082	0.44919	T	0.064274356	0.13619	0.11520228	0.27809	0.064274356	0.13618	0.11520228	0.27808	-6.491	0.50217	T	.	.	0.081	0.10014	B	.;.;.	.;.;.	2.375054	0.30480	18.45	0.99871595868142371	0.94902	0.85886	0.45072	D	AEFBI	0.279311	0.39338	N	0.182800740424742	0.50375	3.227974	0.183128379493449	0.48923	3.101882	0.00439047250466468	0.10527	0.638212	0.43195	0	0.670034	0.63936	0	0.616094	0.41390	0	0.655142	0.61905	0	.	.	5.33	4.35	0.51454	1.719000	0.37633	1.630000	0.27734	-0.171000	0.11205	0.853000	0.30494	0.897000	0.27914	0.673000	0.33338	0.0:0.8614:0.1386:0.0	15.576	0.76122	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	915.43	34	chr17	75925371	.	C	T	915.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=361;ExcessHet=0;FS=8.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.6;ReadPosRankSum=0.494;SOR=0.165	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1036	9	0	1	0
chr17	75978994	75978994	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_004035:exon1:c.C80T:p.P27L,ACOX1:NM_007292:exon1:c.C80T:p.P27L	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1502	18	2	0	22	0.00727032	.	.	.	237439	not_provided|Acyl-CoA_oxidase_deficiency	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.114	.	0.0072	0.00559105	0.0033	0.0183	0.0051	0	0.0002	0.0018	0.0077	0.0014	0.0030918	478	154602	rs145082938	0.0016	0.0016	0.0016	0.0016	0.0285	0.0016	0.0015	0.0249	0.0235	0.0183	0.0042	0.0114	2.519e-05	7.907e-05	0.0285	0.0006	0.0040	0.0016	0.0063	0.0063	0.0066	0.0060	0.0186	0.0060	0.0059	0.0175	0.0171	0.0186	0.0011	0.0041	0.0127	0	9.409e-05	0.0340	0.0009	0.0057	0.0006	0.09	0.31987	T	0.202	0.28300	T	0.0	0.07471	B	0.002	0.06944	B	0.002795	0.35935	N	0.296932	0.999699	0.81001	D	1.95	0.52479	M	-0.13	0.64818	T	-3.52	0.68412	D	0.168	0.19459	-0.8747	0.50173	T	0.113	0.40377	T	10	0.00561586	0.00125	T	.	.	.	0.114	0.32008	.	.	0.697566865013	0.69495	0.6616722337909623	0.66104	0.659582380596	0.58814	0.479379892349	0.35971	T	0.467308	0.80169	T	-0.463065	0.00941	T	-0.423657	0.30658	T	0.0533136793918528	0.06073	T	0.90211	0.65873	D	0.19369115	0.41090	0.26735798	0.52592	0.20065153	0.42047	0.28335834	0.54328	-3.908	0.28008	T	.	.	0.09	0.17488	B	.;.;.	.;.;.	3.891890	0.56638	23.8	0.99720487541705172	0.81984	0.93706	0.58959	D	ALL	0.542320	0.55811	D	0.0254650949938461	0.43015	2.602847	0.156769912805385	0.47500	2.979432	0.999999999857169	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.74	3.75	0.42236	4.244000	0.58522	6.122000	0.53799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.151:0.0:0.849:0.0	10.865	0.46054	726	0.54788	.;Acyl-coenzyme A oxidase, N-terminal;Acyl-coenzyme A oxidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019153	0.020202	0.020380	0.052632	0.000000	0.025862	0.006135	0.003788	0.1	1694.14	36	chr17	75978994	.	G	A	1694.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.032;DP=437;ExcessHet=0.2348;FS=0.611;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.979;SOR=0.765	GT:AD:DP:GQ:PL	0/1:27,37:64:99:870,0,593	8	0	2	0
chr17	76007755	76007755	G	C	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.C5516G:p.S1839C,EVPL:NM_001988:exon22:c.C5450G:p.S1817C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0629709911113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.077	0.45110	T	0.993	0.65571	D	0.72	0.54860	P	0.046725	0.23411	N	0.472008	1	0.08975	N	1.645	0.42016	L	-0.43	0.69657	T	-1.9	0.44284	N	0.228	0.26717	-0.6923	0.60801	T	0.298	0.66942	T	10	0.22776076	0.39664	T	0.062971	0.68822	D	0.108	0.30607	0.375	0.38830	0.709025157765	0.70648	0.3181217063644736	0.31725	0.21898844824	0.24440	0.352479279041	0.18286	T	0.193369	0.54882	T	-0.070111	0.41310	T	-0.338486	0.40516	T	0.424216330051422	0.29846	T	0.673733	0.28234	T	0.14577644	0.33402	0.15694636	0.36721	0.14577644	0.33401	0.15694636	0.36720	-7.225	0.55660	T	.	.	0.073	0.04764	B	.;.	.;.	2.745551	0.35970	20.1	0.90825066418719336	0.20074	0.39012	0.26117	N	AEFGBHCI	0.365960	0.45395	N	-0.182434568784347	0.33867	1.926306	-0.243046490386023	0.30011	1.686156	0.998800898080147	0.37711	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.25	5.25	0.73169	2.364000	0.43840	3.887000	0.40272	0.665000	0.62972	0.487000	0.26855	1.000000	0.68203	0.183000	0.21389	0.0:0.0:0.807:0.193	13.71	0.62143	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1901.43	169	chr17	76007755	.	G	C	1901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.064;DP=614;ExcessHet=0;FS=1.358;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.959;SOR=0.871	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1165	9	0	1	0
chr17	76009232	76009232	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G4039A:p.V1347M,EVPL:NM_001988:exon22:c.G3973A:p.V1325M	.	409	1111	2	0	0	2	0.000899281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0284445430023	.	0.000199681	2.517e-05	0	8.697e-05	0	0	1.529e-05	0	6.075e-05	2.59e-05	4	154602	rs574918697	1.374e-05	1.505e-05	9.571e-06	1.794e-05	0.0014	8.97e-06	7.29e-06	0.0007	0.0005	0	6.708e-05	0	0	0	0.0014	4.497e-06	4.971e-05	1.159e-05	6.566e-06	6.561e-06	1.285e-05	0	6.536e-05	0	0	.	.	0	0	6.536e-05	0	0	0	0	0	0	0	0.153	0.24372	T	0.108	0.37730	T	0.868	0.47740	P	0.486	0.47228	P	0.000243	0.46924	D	0.185800	0.544758	0.32083	D	2.3	0.65703	M	0.65	0.52642	T	-0.4	0.13805	N	0.305	0.44187	-0.3571	0.73348	T	0.240	0.60750	T	10	0.14446944	0.27416	T	0.028445	0.51122	D	0.152	0.39956	0.086	0.00867	0.557792573389	0.55439	0.12899997254055728	0.12824	0.540742379595	0.51266	0.436554908752	0.30106	T	0.144951	0.48183	T	-0.223353	0.17537	T	-0.45095	0.27592	T	0.463929504156113	0.31309	T	0.915808	0.69967	D	0.043604307	0.06825	0.077165514	0.17164	0.043604307	0.06824	0.077165514	0.17163	-6.664	0.51539	T	.	.	0.184	0.39848	B	.;.	.;.	3.498856	0.48938	22.7	0.9961459834764389	0.75052	0.90880	0.52436	D	AEFDBI	0.515195	0.54225	D	0.17069780738404	0.49796	3.176059	0.138219877561363	0.46520	2.896761	0.996214404915501	0.34598	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.41	4.43	0.52967	3.886000	0.55903	2.705000	0.34191	-0.217000	0.08171	1.000000	0.71638	0.993000	0.31925	0.891000	0.42908	0.0:0.6699:0.3301:0.0	15.337	0.73975	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1377.43	66	chr17	76009232	.	C	T	1377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.85;DP=550;ExcessHet=0;FS=2.007;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=1.38;SOR=0.77	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1453	9	0	1	0
chr17	76280707	76280707	T	C	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon10:c.A3910G:p.K1304E	.	429	1077	16	0	0	16	0.00737327	.	.	.	2808414	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.112	.	0.0048	0.00479233	0.0080	0.0015	0.0029	0.0003	0.0269	0.0085	0.0155	0.0095	0.007736	1196	154602	rs61759535	0.0091	0.0091	0.0089	0.0092	0.0112	0.0090	0.0089	0.0106	0.0104	0.0013	0.0043	0.0093	0.0004	0.0252	0.0101	0.0089	0.0085	0.0112	0.0084	0.0084	0.0073	0.0095	0.0114	0.0080	0.0078	0.0097	0.0095	0.0014	0.0110	0.0060	0.0069	0.0010	0.0288	0.0170	0.0104	0.0071	0.0114	0.078	0.52492	T	0.008	0.69154	D	0.999	0.77913	D	0.946	0.68276	D	.	.	.	.	0.999304	0.21385	N	2.045	0.56016	M	0.75	0.50192	T	-3.38	0.66780	D	0.252	0.28498	-0.9168	0.45984	T	0.151	0.47962	T	9	0.0057114363	0.00127	T	.	.	.	0.112	0.31546	.	.	0.426436156839	0.42259	0.1382083603234133	0.13744	0.720615140143	0.62189	0.374426335096	0.21464	T	0.107574	0.41989	T	-0.37865	0.03178	T	-0.305004	0.44194	T	0.0129402226686282	0.00223	T	0.647735	0.25884	T	0.3645914	0.58183	0.3721306	0.62428	0.2962175	0.52563	0.3721306	0.62427	-9.186	0.68887	D	.	.	0.175	0.52418	B	.;.;.	.;.;.	4.470458	0.69653	25.4	0.99860464885756628	0.93911	0.76354	0.37441	D	AEFBI	0.270147	0.38627	N	0.448306124971353	0.64105	4.657982	0.460413712390989	0.65389	4.817518	0.999817320763763	0.43459	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.1	5.1	0.68917	0.945000	0.28654	.	.	0.665000	0.62972	0.884000	0.31069	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	13.718	0.62194	964	0.07719	.;.;.	.	.	.	.	rs61759535	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.008621	0.006098	0.015152	0.05	1163.43	37	chr17	76280707	.	T	C	1163.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.836;DP=404;ExcessHet=0;FS=4.23;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.525;SOR=0.365	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	9	0	1	0
chr17	76293438	76293438	C	T	exonic	QRICH2	.	nonsynonymous SNV	QRICH2:NM_032134:exon4:c.G791A:p.R264Q	.	433	1065	22	2	0	26	0.0120594	.	.	.	2735961	not_provided|QRICH2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.014	.	0.0076	0.00439297	0.0075	0.0020	0.0047	0.0003	0.0029	0.0112	0.0055	0.0041	0.0077554	1199	154602	rs146697124	0.0089	0.0089	0.0090	0.0089	0.0097	0.0088	0.0088	0.0096	0.0095	0.0011	0.0052	0.0339	0.0001	0.0035	0.0088	0.0097	0.0088	0.0038	0.0066	0.0066	0.0069	0.0062	0.0102	0.0062	0.0061	0.0096	0.0093	0.0014	0	0.0031	0.0332	0.0004	0.0040	0.0034	0.0102	0.0095	0.0041	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.185	0.00856	N	3.21	0.07125	T	0.86	0.01712	N	0.033	0.00882	-0.9365	0.43164	T	0.006	0.01981	T	9	0.0038115978	0.00072	T	.	.	.	0.014	0.01968	.	.	0.0138822411134	0.00435	0.011023699316843768	0.01063	0.18710114538	0.21023	0.179027408361	0.00085	T	0.001195	0.00692	T	-0.785051	0.00010	T	-0.888772	0.00585	T	0.00163021575346866	0.00017	T	0.457154	0.13128	T	0.018621963	0.00384	0.025948703	0.00660	0.015293754	0.00131	0.025948703	0.00660	-3.354	0.14444	T	.	.	0.070	0.03372	B	.;.	.;.	0.150093	0.05423	1.898	0.35140611901603958	0.02189	0.02477	0.06943	N	AEFGBCI	0.014543	0.00236	N	-1.48470567004525	0.01957	0.08595295	-1.46775751333897	0.02613	0.1204818	3.75983502827641E-5	0.03775	0.500041	0.20204	0	0.624306	0.53593	0	0.463624	0.06942	0	0.508809	0.08732	0	.	.	3.98	0.23	0.14643	-0.582000	0.05907	.	.	-0.139000	0.12461	0.000000	0.06391	0.025000	0.21018	0.001000	0.02609	0.3641:0.1017:0.1625:0.3716	0.846	0.01088	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009567	0.000000	0.010870	0.002924	0.000000	0.008621	0.006098	0.018939	0.05	2514.43	35	chr17	76293438	.	C	T	2514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.38;DP=903;ExcessHet=0;FS=4.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.19;ReadPosRankSum=-0.357;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1132:.	9	0	1	0
chr17	76391157	76391157	G	T	exonic	UBE2O	.	nonsynonymous SNV	UBE2O:NM_022066:exon18:c.C3665A:p.T1222N	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0169220810635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.106e-06	4.104e-06	4.085e-06	4.127e-06	2.239e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.239e-05	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.007	0.69154	D	0.021	0.18474	B	0.005	0.11217	B	0.674387	0.10313	N	0.821717	1	0.08975	N	0	0.06538	N	-0.7	0.72785	T	-0.16	0.09460	N	0.042	0.01498	-0.9628	0.38645	T	0.147	0.47255	T	10	0.04604888	0.03747	T	0.016922	0.38399	T	0.205	0.49236	0.094	0.01195	0.395439683604	0.39153	0.10269441856943574	0.10199	0.696890761527	0.60867	0.393743395805	0.24195	T	0.022219	0.17168	T	-0.180251	0.23697	T	-0.496694	0.22690	T	0.0547132359415791	0.06309	T	0.715628	0.32820	T	0.09498702	0.22345	0.07486051	0.16422	0.09498702	0.22344	0.07486051	0.16422	-4.711	0.33537	T	.	.	0.080	0.07985	B	.	.	1.782627	0.22667	15.71	0.96197786419158016	0.29013	0.78238	0.38570	D	AEFDBI	0.259074	0.37749	N	-0.724099265369016	0.15346	0.7725539	-0.662466814718121	0.17903	0.9539985	0.43406380278765	0.20397	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.59	1.45	0.21708	2.298000	0.43262	.	.	0.674000	0.70861	0.447000	0.26542	0.952000	0.29052	0.662000	0.33024	0.1607:0.2949:0.5445:0.0	6.057	0.19042	828	0.39726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	898.43	36	chr17	76391157	.	G	T	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.106;DP=421;ExcessHet=0;FS=1.76;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.834;SOR=0.514	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1271	9	0	1	0
chr17	76469309	76469309	C	G	exonic	AANAT	.	nonsynonymous SNV	AANAT:NM_001088:exon3:c.C300G:p.D100E,AANAT:NM_001166579:exon6:c.C435G:p.D145E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.0267432342891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.45756	D	0.019	0.72224	D	0.992	0.64738	D	0.844	0.60373	P	0.000000	0.84330	D	0.044772	0.999274	0.46519	D	2.845	0.82663	M	1.98	0.55945	T	-1.55	0.39314	N	0.696	0.70088	-0.9140	0.46351	T	0.121	0.42101	T	10	0.6101575	0.67399	D	0.026743	0.49621	D	0.279	0.59619	0.618	0.75232	0.705817104749	0.70325	0.715930743043982	0.71536	0.0598001417922	0.06652	0.526738226414	0.42575	T	0.171302	0.51937	T	0.0917855	0.63389	D	-0.105933	0.62934	T	0.973727881908417	0.70213	D	0.925907	0.77272	D	0.6136177	0.73422	0.63211656	0.78535	0.6136177	0.73423	0.63211656	0.78536	-5.504	0.46422	T	.	.	0.612	0.73037	P	.;.;.	.;.;.	2.374005	0.30465	18.45	0.9966257590620301	0.78011	0.76675	0.37624	D	AEFDBHCI	0.442370	0.50012	N	0.0590456403539382	0.44559	2.727792	-0.117817477567166	0.34671	1.997053	0.0450048801370104	0.14635	0.421363	0.06395	0	0.514364	0.08380	0	0.536957	0.11973	0	0.645665	0.59343	0	.	.	4.98	-0.195	0.12586	0.891000	0.27944	.	.	0.599000	0.40250	0.517000	0.27088	0.000000	0.08366	0.974000	0.55675	0.0:0.8688:0.0:0.1312	13.184	0.59094	934	0.15400	.;GNAT domain|GNAT domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	741.43	35	chr17	76469309	.	C	G	741.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.739;DP=379;ExcessHet=0;FS=2.533;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=0.176;SOR=0.386	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1189	9	0	1	0
chr17	76778326	76778326	C	G	exonic	MFSD11	.	nonsynonymous SNV	MFSD11:NM_001242536:exon12:c.C1168G:p.R390G,MFSD11:NM_001242537:exon12:c.C1168G:p.R390G,MFSD11:NM_001242532:exon13:c.C1324G:p.R442G,MFSD11:NM_001242533:exon14:c.C1324G:p.R442G,MFSD11:NM_001242534:exon14:c.C1324G:p.R442G,MFSD11:NM_001242535:exon14:c.C1324G:p.R442G,MFSD11:NM_001353017:exon14:c.C1324G:p.R442G,MFSD11:NM_001353018:exon14:c.C1324G:p.R442G,MFSD11:NM_001353019:exon14:c.C1324G:p.R442G,MFSD11:NM_024311:exon14:c.C1324G:p.R442G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0183496292588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.67890	D	0.071	0.23930	B	0.015	0.17295	B	0.000004	0.62929	D	0.106725	0.998617	0.46865	D	2.8	0.81625	M	3.24	0.10291	T	-2.28	0.52451	N	0.484	0.55106	-1.0580	0.12260	T	0.024	0.10148	T	10	0.14210534	0.26994	T	0.01835	0.40384	T	0.073	0.21317	0.379	0.39482	0.0954503805726	0.09146	0.8729549221987506	0.87261	0.413097410689	0.42030	0.48746573925	0.37088	T	0.060401	0.31377	T	-0.130601	0.31398	T	-0.425376	0.30461	T	0.92708694934845	0.58974	D	0.918808	0.70803	D	0.2842441	0.51452	0.22806057	0.47835	0.2842441	0.51452	0.22806057	0.47834	-4.218	0.27011	T	.	.	0.167	0.36791	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.907821	0.38565	20.8	0.99359713535508731	0.60946	0.97752	0.76876	D	AEFBI	0.485213	0.52490	N	-0.273095080317508	0.30190	1.681127	-0.136708994764359	0.33924	1.94575	0.016787488056102	0.12873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.07	4.05	0.46415	2.218000	0.42530	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.143000	0.20056	0.3346:0.5503:0.1151:0.0	10.924	0.46395	827	0.39843	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1644.43	34	chr17	76778326	.	C	G	1644.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.327;DP=447;ExcessHet=0;FS=2.378;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.151;SOR=0.961	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1273	9	0	1	0
chr17	77209465	77209465	G	T	exonic	SEC14L1	.	nonsynonymous SNV	SEC14L1:NM_001144001:exon12:c.G1498T:p.A500S,SEC14L1:NM_001039573:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143998:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143999:exon14:c.G1600T:p.A534S,SEC14L1:NM_003003:exon14:c.G1600T:p.A534S,SEC14L1:NM_001204408:exon16:c.G1600T:p.A534S,SEC14L1:NM_001204410:exon16:c.G1600T:p.A534S	.	431	1066	25	0	0	25	0.0115902	.	.	.	715736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0035	0.00139776	0.0047	0.0004	0.0011	0	0.0031	0.0054	0.0045	0.0100	0.0044243	684	154602	rs143320926	0.0042	0.0042	0.0040	0.0043	0.0106	0.0041	0.0040	0.0100	0.0098	0.0008	0.0010	0.0026	0	0.0039	0.0021	0.0041	0.0036	0.0106	0.0030	0.0030	0.0028	0.0032	0.0085	0.0028	0.0027	0.0064	0.0057	0.0007	0	0.0017	0.0023	0	0.0041	0	0.0045	0.0028	0.0085	0.561	0.06691	T	0.531	0.24621	T	0.036	0.20732	B	0.02	0.19048	B	0.000000	0.84330	D	0.049517	0.999973	0.53665	D	2.6	0.76081	M	1.09	0.39223	T	-0.49	0.15578	N	0.392	0.46368	-1.0772	0.07901	T	0.058	0.24167	T	10	0.008954972	0.00203	T	.	.	.	0.080	0.23350	.	.	0.49530441419	0.49164	0.36858062195665303	0.36772	0.539670562832	0.51191	0.556917905807	0.46832	T	0.02022	0.15960	T	-0.393963	0.02536	T	-0.330716	0.41388	T	0.0287421153837563	0.01798	T	0.790321	0.45571	T	0.15130615	0.34402	0.117334686	0.28325	0.15130615	0.34402	0.117334686	0.28324	-6.096	0.47076	T	.	.	0.073	0.15296	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.138675	0.42441	21.5	0.8701665812032916	0.16930	0.90976	0.52619	D	AEFDBHCI	0.779930	0.71198	D	-0.160721858344382	0.34779	1.989405	0.0170941891234989	0.40509	2.418674	0.999999992349364	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.723	0.93126	0	.	.	5.48	5.48	0.80675	6.196000	0.72018	9.788000	0.81631	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:0.8421:0.1579	13.318	0.59857	988	0.01987	.;GOLD domain;GOLD domain;GOLD domain;.;.;.;GOLD domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.015152	0.1	2283.14	34	chr17	77209465	.	G	T	2283.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.215;DP=488;ExcessHet=0.2348;FS=8.046;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.59;SOR=0.351	GT:AD:DP:GQ:PL	0/1:54,54:108:99:1222,0,1363	8	0	2	0
chr17	78131664	78131664	A	T	exonic	TMC8	.	nonsynonymous SNV	TMC8:NM_152468:exon2:c.A76T:p.M26L	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3620251	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0436377313524	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224236608	2.825e-06	2.736e-06	1.397e-06	4.284e-06	3.67e-06	6.6e-07	4.5e-07	8.6e-07	5.8e-07	0	0	0	0	0	0	3.67e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.654	0.04786	T	0.145	0.36901	T	0.0	0.02946	B	0.0	0.01387	B	0.975995	0.07810	N	1.015750	1	0.81001	D	1.68	0.43186	L	-0.75	0.73311	T	-1.04	0.27259	N	0.238	0.26837	-0.8668	0.50768	T	0.137	0.45260	T	10	0.066233516	0.09054	T	0.043638	0.61084	D	0.074	0.21613	0.368	0.37687	0.311079019809	0.30711	0.5793361551651859	0.57862	1.12626040767	0.78466	0.67870080471	0.64083	T	0.008449	0.07757	T	-0.164481	0.26074	T	-0.474042	0.25082	T	0.0419952609311506	0.04054	T	0.671133	0.28021	T	0.069977865	0.15376	0.057595946	0.10497	0.069977865	0.15376	0.057595946	0.10497	-1.507	0.01778	T	0.09813306485725724	0.06981	0.581	0.68102	P	.;.	.;.	1.456606	0.18786	13.92	0.86652507681483981	0.16681	0.53722	0.29441	D	AEFDBHCI	0.237686	0.35993	N	-0.918827945622379	0.10402	0.4969062	-0.806547885474798	0.14337	0.7486091	0.999998815022834	0.74766	0.525926	0.21836	0	0.52208	0.09955	0	0.503968	0.08637	0	0.584449	0.35598	0	.	.	3.13	-0.645	0.10899	1.213000	0.32011	-0.799000	0.07382	0.658000	0.54486	0.992000	0.37556	0.000000	0.08366	0.859000	0.40722	0.4873:0.2361:0.2766:0.0	2.974	0.05571	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1050.43	39	chr17	78131664	.	A	T	1050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.249;DP=405;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.01;ReadPosRankSum=0.011;SOR=0.738	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1183	9	0	1	0
chr17	78137275	78137275	G	A	exonic	TMC8	.	nonsynonymous SNV	TMC8:NM_152468:exon10:c.G1168A:p.V390I	Epidermodysplasia verruciformis, Autosomal recessive	1	1498	21	2	0	25	0.00827541	.	.	.	467600	TMC8-related_disorder|Epidermodysplasia_verruciformis,_susceptibility_to,_2|Epidermodysplasia_verruciformis|not_provided|Epidermodysplasia_verruciformis,_susceptibility_to,_1	.|MONDO:MONDO:0032614,MedGen:C4722258,OMIM:618231|MONDO:MONDO:0009176,MedGen:C0014522,Orphanet:302|MedGen:C3661900|MONDO:MONDO:0100045,MedGen:C4722564,OMIM:226400,Orphanet:302	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	0.00410324993569	0.0005	0.000399361	0.0010	0	0.0012	0	0	0.0013	0.0011	0.0013	0.0010155	157	154602	rs150546646	0.0010	0.0010	0.0009	0.0010	0.0182	0.0009	0.0009	0.0154	0.0143	0.0002	0.0015	0.0039	0	5.633e-05	0.0182	0.0008	0.0014	0.0016	0.0008	0.0008	0.0007	0.0009	0.0025	0.0007	0.0007	0.0014	0.0011	0.0002	0	0.0010	0.0029	0	9.423e-05	0.0136	0.0010	0.0024	0.0025	0.048	0.40068	D	0.021	0.58089	D	0.001	0.07471	B	0.0	0.01387	B	0.011672	0.29444	N	0.401306	0.999988	0.18198	N	0.46	0.12951	N	0.84	0.47477	T	0.31	0.04022	N	0.101	0.09207	-1.0604	0.11656	T	0.056	0.23450	T	10	0.0096693635	0.00218	T	0.004103	0.09806	T	0.034	0.08419	.	.	0.130388298395	0.12655	0.13204019004798737	0.13129	0.130157849195	0.14680	0.437267661095	0.30204	T	0.003801	0.03212	T	-0.571598	0.00216	T	-0.629215	0.10474	T	0.00663798197383947	0.00074	T	0.562444	0.21221	T	0.030031534	0.02596	0.048360277	0.07165	0.03349852	0.03579	0.04933667	0.07518	-6.709	0.51878	T	0.11291909417836925	0.09823	0.073	0.05360	B	.;.	.;.	1.783694	0.22680	15.72	0.91118520682630066	0.20371	0.58023	0.30531	D	AEFBHCI	0.158626	0.28431	N	-1.18216701621197	0.05270	0.2398276	-1.06972452013257	0.08301	0.4075489	0.99999986114992	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.612816	0.40813	0	0.584449	0.35598	0	.	.	4.28	0.753	0.17552	0.314000	0.19182	2.676000	0.33982	-0.741000	0.03665	0.231000	0.24654	0.999000	0.35428	0.613000	0.31716	0.0:0.1697:0.151:0.6793	5.308	0.15122	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.010101	0.012262	0.017544	0.000000	0.000000	0.006098	0.000000	0.05	1007.43	33	chr17	78137275	.	G	A	1007.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=422;ExcessHet=0;FS=2.561;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=1.2;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1146	9	0	1	0
chr17	78171999	78171999	G	C	exonic	SYNGR2	.	stoploss	SYNGR2:NM_001363778:exon3:c.G827C:p.X276S	.	425	1036	59	2	0	63	0.0295082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	0.0079	0.0018	0.0076	0	0.0048	0.0099	0.0165	0.0083	0.0067334	1041	154602	rs143144653	0.0067	0.0067	0.0064	0.0071	0.0240	0.0066	0.0066	0.0208	0.0195	0.0017	0.0083	0.0146	0	0.0058	0.0240	0.0066	0.0080	0.0085	0.0063	0.0063	0.0066	0.0060	0.0135	0.0060	0.0058	0.0120	0.0115	0.0013	0	0.0135	0.0109	0	0.0051	0.0204	0.0079	0.0104	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.001	0.00004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.75592	0.00016	T	-0.847572	0.00991	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.232574	0.02928	0.427	0.50376417526431616	0.04373	0.07884	0.13873	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999987626685079	0.51787	0.256867	0.04430	0	0.261133	0.04861	0	0.203592	0.04532	1	0.375513	0.06772	0	0.0496666	0.09133	2.0	-0.67	0.10812	-0.824000	0.04545	-0.255000	0.10474	-1.506000	0.01022	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2093:0.0:0.4797:0.311	2.049	0.03351	923	0.18507	.	TK1|AFMID|LGALS3BP|TMC8|SYNGR2	Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Testis|Whole_Blood	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2495.14	33	chr17	78171999	.	G	C	2495.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=474;ExcessHet=0.2348;FS=2.702;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.89;MQRankSum=0;QD=12.8;ReadPosRankSum=0.374;SOR=0.941	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1074	8	0	2	0
chr17	78202555	78202555	G	A	exonic	AFMID	.	nonsynonymous SNV	AFMID:NM_001010982:exon3:c.G211A:p.G71S,AFMID:NM_001145526:exon3:c.G211A:p.G71S	.	440	1078	3	1	0	5	0.00231374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0116076046691	0.0002	.	0.0004	0	0.0002	0	0.0002	0.0004	0.0011	0.0010	0.0003881	60	154602	rs144866146	0.0004	0.0004	0.0004	0.0005	0.0026	0.0004	0.0004	0.0016	0.0013	2.987e-05	0.0002	0.0008	0	0.0003	0.0026	0.0004	0.0005	0.0012	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	4.813e-05	0	0.0003	0.0014	0	0	0	0.0004	0	0.0010	0.275	0.15770	T	0.398	0.50514	T	0.899	0.52645	P	0.14	0.39956	B	0.005604	0.32654	N	0.326436	1	0.21260	N	2.24	0.63355	M	.	.	.	-1.47	0.35991	N	0.185	0.21319	-1.0531	0.13547	T	0.063	0.26279	T	9	0.035892487	0.01860	T	0.011608	0.29407	T	0.096	0.27654	.	.	0.285316908763	0.28143	0.5640927354680952	0.56336	0.586344282559	0.54236	0.283833146095	0.08032	T	0.080117	0.36288	T	-0.454157	0.01067	T	-0.485739	0.23840	T	0.0663336908877156	0.08126	T	0.761924	0.43550	T	0.049111012	0.08670	0.04001659	0.04230	0.049111012	0.08669	0.04001659	0.04229	-5.428	0.42176	T	.	.	0.093	0.47228	B	.;.;.;.	.;.;.;.	1.988751	0.25265	16.70	0.99137035648845961	0.53437	0.60296	0.31155	D	AEFBI	0.380182	0.46292	N	-0.556372519874784	0.20284	1.068194	-0.640015214047353	0.18470	0.9867571	0.015122759323441	0.12677	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.69	1.47	0.21832	2.040000	0.40824	0.750000	0.21229	-0.301000	0.06190	0.958000	0.33488	0.149000	0.23162	0.001000	0.02609	0.0828:0.1496:0.6125:0.155	4.745	0.12406	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1730.43	34	chr17	78202555	.	G	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.17;DP=670;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-1.515;SOR=0.537	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	9	0	1	0
chr17	78414893	78414893	C	G	exonic	PGS1	.	nonsynonymous SNV	PGS1:NM_024419:exon8:c.C1417G:p.L473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00176104843523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.499	0.11227	T	0.172	0.28767	B	0.025	0.20508	B	0.000719	0.42254	U	0.100339	0.998973	0.46865	D	1.955	0.52871	M	.	.	.	-0.77	0.21429	N	0.32	0.36043	-1.0013	0.29545	T	0.128	0.43524	T	9	0.1865736	0.34129	T	0.001761	0.02986	T	0.115	0.32236	0.495	0.58363	0.366848117066	0.36290	0.4513748628990236	0.45055	0.471099041256	0.46381	0.606831789017	0.53868	T	0.043718	0.26591	T	-0.123228	0.32596	T	-0.414785	0.31673	T	0.472030296000789	0.31605	T	0.810019	0.46084	T	0.123008	0.28893	0.087404266	0.20313	0.123008	0.28893	0.087404266	0.20313	-9.651	0.71796	D	.	.	0.098	0.16407	B	.	.	3.102843	0.41819	21.4	0.98685017212660098	0.44667	0.94161	0.60297	D	AEFDGBIJ	0.533820	0.55311	D	-0.128729328185494	0.36143	2.085347	0.0223056789718178	0.40753	2.437181	0.999999974292116	0.74766	0.631515	0.41029	0	0.71359	0.82159	0	0.697927	0.64325	0	0.662433	0.64102	0	.	.	4.42	4.42	0.52775	2.875000	0.48189	5.805000	0.49965	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9134:0.0:0.0866	10.807	0.45725	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	619.43	37	chr17	78414893	.	C	G	619.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.199;DP=355;ExcessHet=0;FS=5.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.123;SOR=1.528	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1020	9	0	1	0
chr17	78537328	78537328	G	A	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon19:c.C2830T:p.R944W	.	425	1089	7	1	0	9	0.00411523	.	.	.	3547077	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.258	0.123250735721	0.0019	0.000199681	0.0047	0.0009	0.0061	0	0	0.0067	0.0035	0.0037	0.0017141	265	154602	rs200709141	0.0017	0.0017	0.0017	0.0017	0.0019	0.0016	0.0016	0.0019	0.0018	0.0002	0.0009	7.819e-05	0	0.0003	0.0019	0.0019	0.0012	0.0019	0.0013	0.0013	0.0012	0.0013	0.0023	0.0011	0.0011	0.0020	0.0019	0.0004	0.0011	0.0005	0	0	9.418e-05	0	0.0023	0	0.0012	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.987451	0.40594	D	3.435	0.92070	M	1.7	0.27184	T	-6.67	0.92346	D	0.853	0.85343	-0.8359	0.52917	T	0.145	0.46877	T	7	0.051567137	0.05059	T	0.123251	0.80439	D	0.258	0.56959	.	.	0.353125101423	0.34923	0.8174882663212304	0.81705	.	.	0.459829211235	0.33286	T	0.183748	0.53619	T	-0.163722	0.26188	T	-0.0135002	0.69455	D	0.0793807252968984	0.09907	T	0.904909	0.66542	D	0.2014628	0.42157	0.23772974	0.49077	0.190999	0.40708	0.14795312	0.34992	-10.071	0.74336	D	0.7397968848607426	0.82182	0.634	0.70276	P	.;.	.;.	3.287041	0.45060	22.1	0.99910595361872589	0.98022	0.94394	0.61025	D	AEFDGBI	0.710051	0.66394	D	0.062500683055526	0.44719	2.740899	-0.00799718714948586	0.39353	2.331963	0.999970626199619	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.75	0.31439	2.180000	0.42167	3.134000	0.36454	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.634000	0.32262	0.0:0.0:0.6865:0.3135	12.714	0.56474	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001517	0.000000	0.001366	0.002941	0.000000	0.000000	0.003086	0.000000	0.05	779.43	35	chr17	78537328	.	G	A	779.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.727;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.185;SOR=0.671	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	9	0	1	0
chr17	78537337	78537337	G	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon19:c.C2821A:p.L941I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0135303030759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.384e-06	1.368e-06	2.748e-06	0	2.571e-05	2.3e-07	9e-08	.	.	0	0	0	2.571e-05	0	0	9.055e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.970774	0.25687	N	2.875	0.83380	M	1.8	0.25678	T	-1.5	0.36586	N	0.379	0.42345	-1.0419	0.16741	T	0.083	0.32499	T	7	0.21330184	0.37817	T	0.01353	0.33003	T	0.062	0.17934	0.631	0.76699	0.0666544352282	0.05500	0.2593881892943262	0.25852	.	.	0.396355867386	0.24562	T	0.012182	0.10755	T	-0.177277	0.24142	T	-0.492423	0.23137	T	0.159496417778093	0.17834	T	0.718928	0.33194	T	0.038603242	0.05173	0.098648034	0.23525	0.038603242	0.05172	0.098648034	0.23525	-3.978	0.23473	T	0.4811075487487532	0.55975	0.101	0.17573	B	.;.	.;.	2.125318	0.27058	17.33	0.97042176451283546	0.32113	0.67293	0.33380	D	AEFDGBI	0.397685	0.47366	N	-0.245733994689482	0.31274	1.751983	-0.30011563374917	0.28095	1.563828	0.999596748001128	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.82	0.32061	0.967000	0.28941	1.875000	0.29413	-0.131000	0.13161	0.625000	0.27956	1.000000	0.68203	0.798000	0.37648	0.3709:0.0:0.6291:0.0	5.593	0.16595	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1498.43	35	chr17	78537337	.	G	T	1498.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=465;ExcessHet=0;FS=4.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.816;SOR=1.027	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1119	9	0	1	0
chr17	78799723	78799723	G	C	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon17:c.C2573G:p.S858C,USP36:NM_001385178:exon17:c.C2573G:p.S858C,USP36:NM_001385180:exon17:c.C2411G:p.S804C,USP36:NM_001321291:exon18:c.C3068G:p.S1023C,USP36:NM_001385169:exon18:c.C3071G:p.S1024C,USP36:NM_001385170:exon18:c.C3068G:p.S1023C,USP36:NM_001385171:exon18:c.C3068G:p.S1023C,USP36:NM_001385173:exon18:c.C3068G:p.S1023C,USP36:NM_001385174:exon18:c.C3068G:p.S1023C,USP36:NM_001385175:exon18:c.C3068G:p.S1023C,USP36:NM_001385176:exon18:c.C3068G:p.S1023C,USP36:NM_001385179:exon18:c.C2438G:p.S813C,USP36:NM_001385172:exon19:c.C3068G:p.S1023C	.	430	1086	6	0	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0008	0.0255591	0.0106	0.0006	0.0041	0.1160	0.0088	0.0017	0.0132	0.0026	0.0099158	1533	154602	rs75462245	0.0046	0.0047	0.0048	0.0044	0.1171	0.0045	0.0045	0.1142	0.1131	0.0005	0.0036	0.0137	0.1171	0.0084	0.0007	0.0004	0.0073	0.0031	0.0058	0.0059	0.0047	0.0070	0.1135	0.0055	0.0054	0.1059	0.1028	0.0008	0	0.0029	0.0136	0.1135	0.0083	0	0.0006	0.0066	0.0064	0.035	0.43708	D	0.117	0.36365	T	.	.	.	.	.	.	0.037127	0.24438	N	0.420350	1	0.08975	P	.	.	.	2.95	0.09635	T	-2.11	0.48020	N	0.092	0.07125	-1.0826	0.06852	T	0.001	0.00378	T	9	0.0016350746	0.00019	T	.	.	.	0.017	0.02790	.	.	.	.	0.1371697351331561	0.13640	0.082486663882	0.09310	0.276760399342	0.07045	T	.	.	.	-0.692027	0.00041	T	-0.670108	0.07602	T	0.00190848413790739	0.00020	T	0.522448	0.17034	T	0.06405324	0.13550	0.06045868	0.11518	0.06405324	0.13550	0.06045868	0.11517	-5.341	0.40347	T	.	.	0.085	0.10256	B	.;.	.;.	0.879961	0.12533	9.061	0.9602754076433615	0.28494	0.14011	0.18174	N	AEFDGBI	0.050059	0.08712	N	-0.807086790326673	0.13128	0.6446149	-0.816243374299534	0.14102	0.7351178	0.999997461138945	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.11	3.09	0.34677	0.921000	0.28338	1.388000	0.26092	0.674000	0.70861	0.000000	0.06391	0.001000	0.17328	0.080000	0.17246	0.0818:0.2939:0.6242:0.0	8.401	0.31749	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.012195	0.003788	0.05	1339.43	41	chr17	78799723	.	G	C	1339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.443;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=-0.817;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1161	9	0	1	0
chr17	78803753	78803753	C	A	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon15:c.G1947T:p.K649N,USP36:NM_001385178:exon15:c.G1947T:p.K649N,USP36:NM_001385180:exon15:c.G1785T:p.K595N,USP36:NM_001321291:exon16:c.G2442T:p.K814N,USP36:NM_001385169:exon16:c.G2442T:p.K814N,USP36:NM_001385170:exon16:c.G2442T:p.K814N,USP36:NM_001385171:exon16:c.G2442T:p.K814N,USP36:NM_001385173:exon16:c.G2442T:p.K814N,USP36:NM_001385174:exon16:c.G2442T:p.K814N,USP36:NM_001385175:exon16:c.G2442T:p.K814N,USP36:NM_001385176:exon16:c.G2442T:p.K814N,USP36:NM_001385179:exon16:c.G1812T:p.K604N,USP36:NM_001385172:exon17:c.G2442T:p.K814N	.	356	1157	8	1	0	10	0.00430293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0007	0.0253594	0.0112	0.0006	0.0054	0.1146	0.0088	0.0019	0.0136	0.0039	0.0101098	1563	154602	rs3744797	0.0048	0.0048	0.0049	0.0047	0.1174	0.0047	0.0046	0.1146	0.1134	0.0005	0.0042	0.0138	0.1174	0.0086	0.0009	0.0004	0.0076	0.0045	0.0059	0.0059	0.0047	0.0071	0.1128	0.0055	0.0054	0.1053	0.1023	0.0008	0	0.0030	0.0135	0.1128	0.0085	0	0.0005	0.0066	0.0083	0.005	0.63226	D	0.148	0.32675	T	0.013	0.16609	B	0.012	0.16012	B	0.713402	0.09995	N	0.870904	1	0.08975	P	1.195	0.30194	L	3.07	0.08547	T	-1.87	0.43717	N	0.059	0.03069	-1.0731	0.08745	T	0.001	0.00222	T	9	0.0016081333	0.00019	T	.	.	.	0.060	0.17295	0.308	0.27967	.	.	0.2171002894588818	0.21626	0.355312255275	0.37297	0.330501645803	0.15011	T	0.01276	0.11155	T	-0.737979	0.00021	T	-0.736116	0.04056	T	0.0217261528440665	0.00878	T	0.40026	0.10182	T	0.15621261	0.35265	0.12450262	0.30008	0.15621261	0.35265	0.12450262	0.30007	-5.834	0.44870	T	.	.	0.225	0.45678	B	.;.	.;.	1.651801	0.21074	15.04	0.9562223025392248	0.27391	0.13666	0.17984	N	AEFDBI	0.044329	0.07119	N	-0.691532801729322	0.16261	0.8269387	-0.712225190250055	0.16656	0.8821724	0.999582460376187	0.40607	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.42	2.99	0.33673	0.208000	0.17212	2.091000	0.30548	0.599000	0.40250	0.000000	0.06391	0.017000	0.20586	0.012000	0.09680	0.0:0.8131:0.0:0.1869	10.010	0.41153	940	0.13648	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.012270	0.003788	0.05	1105.43	49	chr17	78803753	.	C	A	1105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.335;DP=465;ExcessHet=0;FS=3.214;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.35;ReadPosRankSum=0.091;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	9	0	1	0
chr17	78812937	78812937	C	T	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001385177:exon12:c.G835A:p.G279S,USP36:NM_001385178:exon12:c.G835A:p.G279S,USP36:NM_001385180:exon12:c.G673A:p.G225S,USP36:NM_001321291:exon13:c.G1330A:p.G444S,USP36:NM_001385169:exon13:c.G1330A:p.G444S,USP36:NM_001385170:exon13:c.G1330A:p.G444S,USP36:NM_001385171:exon13:c.G1330A:p.G444S,USP36:NM_001385173:exon13:c.G1330A:p.G444S,USP36:NM_001385174:exon13:c.G1330A:p.G444S,USP36:NM_001385175:exon13:c.G1330A:p.G444S,USP36:NM_001385176:exon13:c.G1330A:p.G444S,USP36:NM_001385179:exon13:c.G700A:p.G234S,USP36:NM_001385172:exon14:c.G1330A:p.G444S	.	423	1095	4	0	0	4	0.00182315	.	.	.	715756	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0078	0.00239617	0.0060	0.0020	0.0016	0	0.0027	0.0098	0.0077	0.0005	0.006203	959	154602	rs117840411	0.0096	0.0096	0.0099	0.0093	0.0118	0.0095	0.0094	0.0116	0.0115	0.0018	0.0021	0.0035	0	0.0031	0.0023	0.0118	0.0071	0.0010	0.0057	0.0057	0.0062	0.0052	0.0100	0.0054	0.0053	0.0094	0.0091	0.0024	0.0022	0.0029	0.0035	0	0.0019	0	0.0100	0.0057	0.0006	1.0	0.00964	T	0.474	0.23029	T	0.0	0.02946	B	0.003	0.08700	B	0.064251	0.21966	N	0.546151	1	0.08975	N	-0.895	0.01383	N	3.3	0.16217	T	-1.83	0.42957	N	0.107	0.13626	-0.9714	0.36904	T	0.009	0.03403	T	10	0.0033639967	0.00059	T	.	.	.	0.025	0.05312	.	.	0.0920862733494	0.08535	0.16209183721105924	0.16130	0.0697944257895	0.07817	0.270783722401	0.06243	T	0.013594	0.16575	T	-0.717306	0.00029	T	-0.792749	0.02090	T	0.00189968842772483	0.00019	T	0.59724	0.22223	T	0.08094391	0.18573	0.050861277	0.08067	0.08094391	0.18573	0.050861277	0.08066	-1.594	0.01968	T	.	.	0.072	0.06387	B	.;.;.;.	.;.;.;.	-0.486531	0.01911	0.159	0.54832814248038975	0.05217	0.01097	0.04030	N	AEFDBI	0.021716	0.00998	N	-1.75227287833969	0.00673	0.02902292	-1.72628161309999	0.01026	0.04601851	0.98423523691446	0.30685	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	-2.88	0.05342	-0.240000	0.08970	-1.161000	0.06152	-2.079000	0.00404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3369:0.2732:0.3899	5.478	0.16002	940	0.13648	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002523	0.005051	0.000000	0.000000	0.000000	0.008621	0.000000	0.011364	0.05	1628.43	43	chr17	78812937	.	C	T	1628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=478;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=1.55;SOR=0.609	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1445	9	0	1	0
chr17	78835435	78835435	G	A	exonic	USP36	.	nonsynonymous SNV	USP36:NM_001321291:exon4:c.C320T:p.T107M,USP36:NM_001385169:exon4:c.C320T:p.T107M,USP36:NM_001385170:exon4:c.C320T:p.T107M,USP36:NM_001385171:exon4:c.C320T:p.T107M,USP36:NM_001385173:exon4:c.C320T:p.T107M,USP36:NM_001385174:exon4:c.C320T:p.T107M,USP36:NM_001385175:exon4:c.C320T:p.T107M,USP36:NM_001385176:exon4:c.C320T:p.T107M,USP36:NM_001385172:exon5:c.C320T:p.T107M	.	428	1088	6	0	0	6	0.00274977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00623924118201	0.0004	0.000798722	0.0002	0.0009	9.271e-05	0.0001	0	0.0002	0	0.0002	0.0002005	31	154602	rs201961301	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0004	5.974e-05	0.0001	0.0012	0	0	0.0007	0.0001	0.0003	0.0005	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	0.0006	0	0	0.0014	0	0	0	0.0001	0	0.0010	0.339	0.12754	T	0.071	0.43531	T	0.146	0.27821	B	0.011	0.15521	B	0.889193	0.08699	N	0.954591	1	0.08975	N	0.755	0.19153	N	3.27	0.44065	T	-1.59	0.38345	N	0.094	0.12627	-1.0326	0.19618	T	0.016	0.06329	T	10	0.00952667	0.00215	T	0.006239	0.16376	T	0.062	0.17934	.	.	0.192905019026	0.18896	0.1860797673951094	0.18525	0.0731156517845	0.08196	0.281240135431	0.07665	T	0.010935	0.21121	T	-0.624788	0.00103	T	-0.753273	0.03360	T	0.0133653404700865	0.00241	T	0.451355	0.26965	T	0.010468137	0.00008	0.036085486	0.02986	0.010468137	0.00008	0.036085486	0.02986	-6.571	0.50831	T	.	.	0.061	0.01367	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.116705	0.05149	1.672	0.89442664954442697	0.18801	0.13007	0.17609	N	AEFBCI	0.133776	0.25355	N	-1.51430784601464	0.01755	0.07686498	-1.58451913646094	0.01750	0.07958653	0.999745663472829	0.42466	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.4	-5.67	0.02247	-0.118000	0.10665	0.006000	0.13366	-0.894000	0.02369	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3457:0.0:0.6543:0.0	15.800	0.78223	952	0.10565	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2947.43	36	chr17	78835435	.	G	A	2947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.282;DP=539;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.725;SOR=0.866	GT:AD:DP:GQ:PL	0/1:86,121:207:99:2959,0,1946	9	0	1	0
chr17	79044105	79044105	C	T	exonic	C1QTNF1	.	nonsynonymous SNV	C1QTNF1:NM_030968:exon2:c.C137T:p.P46L,C1QTNF1:NM_153372:exon2:c.C137T:p.P46L,C1QTNF1:NM_198593:exon2:c.C137T:p.P46L	.	8	1508	6	0	0	6	0.00198544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0316476070791	0.0012	0.000399361	0.0011	0.0002	0.0002	0	0	0.0018	0	0.0004	0.0010026	155	154602	rs145629828	0.0019	0.0019	0.0020	0.0017	0.0023	0.0018	0.0018	0.0022	0.0022	0.0002	0.0003	0.0013	0	5.642e-05	0.0009	0.0023	0.0017	0.0006	0.0009	0.0009	0.0009	0.0010	0.0017	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0005	0.0014	0	9.407e-05	0	0.0017	0.0005	0.0008	0.266	0.16251	T	0.009	0.66756	D	0.005	0.12996	B	0.003	0.08700	B	0.595490	0.11009	N	0.780906	0.999995	0.08975	N	1.04	0.26193	L	-0.97	0.75670	T	-1.03	0.27052	N	0.096	0.08366	-0.8942	0.48558	T	0.198	0.55386	T	10	0.008351654	0.00189	T	0.031648	0.53678	D	0.090	0.26093	.	.	0.589488658231	0.58623	0.38534338611504604	0.38449	0.292905705012	0.31710	0.368779152632	0.20657	T	0.030712	0.21706	T	-0.509877	0.00503	T	-0.509795	0.21337	T	0.00255998146557581	0.00027	T	0.518148	0.16784	T	0.048267428	0.08386	0.043874234	0.05557	0.048267428	0.08386	0.043874234	0.05557	-3.777	0.20461	T	.	.	0.061	0.01161	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.358935	0.07319	3.929	0.97513558782709897	0.34363	0.00937	0.03624	N	AEFDGBI	0.098711	0.19884	N	-1.02365339569474	0.08114	0.3793611	-1.11117369492956	0.07486	0.3643085	0.302076495514675	0.19199	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	2.99	-0.413	0.11747	-1.023000	0.03718	-2.863000	0.03284	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.125000	0.19370	0.2556:0.438:0.0:0.3063	2.123	0.03503	940	0.13648	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	699.43	39	chr17	79044105	.	C	T	699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.05;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=0.741;SOR=0.662	GT:AD:DP:GQ:PL	0/1:18,26:44:99:711,0,678	9	0	1	0
chr17	79834749	79834749	G	A	exonic	CBX4	.	nonsynonymous SNV	CBX4:NM_003655:exon5:c.C893T:p.A298V	.	.	.	.	.	.	.	.	.	.	.	2389208	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0440953993077	7.7e-05	0.000199681	5.864e-05	9.743e-05	8.652e-05	0	0	6.085e-05	0	6.377e-05	5.17e-05	8	154602	rs199853951	2.678e-05	2.805e-05	1.911e-05	3.455e-05	0.0003	2.005e-05	1.76e-05	6.107e-05	2.527e-05	0	2.257e-05	0	0	0	0.0003	2.888e-05	4.99e-05	1.163e-05	2.626e-05	2.624e-05	2.57e-05	2.685e-05	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.406e-05	0	0	0	0	0	0	4.411e-05	0	0	0.111	0.29029	T	0.541	0.09725	T	0.011	0.15914	B	0.008	0.13708	B	0.914834	0.07439	U	1.046320	0.805938	0.29059	N	1.845	0.48678	L	.	.	.	-0.71	0.20145	N	0.125	0.11769	-1.0255	0.21919	T	0.112	0.40099	T	9	0.05150765	0.05044	T	0.044095	0.61317	D	0.082	0.23913	.	.	0.326345978581	0.32251	0.5210267859565084	0.52025	0.797753573997	0.66110	0.603797733784	0.53441	T	0.005306	0.04751	T	-0.209527	0.19445	T	-0.382381	0.35444	T	0.0521045364439487	0.05865	T	0.782022	0.41734	T	0.05765441	0.11502	0.067006044	0.13805	0.05765441	0.11501	0.067006044	0.13805	-4.999	0.36829	T	.	.	0.076	0.05756	B	.	.	1.765669	0.22456	15.63	0.99245164618547044	0.56695	0.67019	0.33282	D	AEFDBHCI	0.326395	0.42768	N	-0.745072104015524	0.14768	0.7384437	-0.743732213730339	0.15876	0.8371709	0.999999999781848	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.666236	0.60216	0	0.508809	0.08732	0	.	.	3.89	3.89	0.44098	2.283000	0.43131	6.431000	0.55633	0.604000	0.46097	0.091000	0.22601	0.997000	0.33255	0.158000	0.20581	0.1052:0.0:0.8948:0.0	9.015	0.35328	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1765.43	35	chr17	79834749	.	G	A	1765.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.795;DP=479;ExcessHet=0;FS=1.428;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=0.961;SOR=0.551	GT:AD:DP:GQ:PL	0/1:55,76:131:99:1777,0,1277	9	0	1	0
chr17	80048756	80048756	G	C	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_001243342:exon5:c.G850C:p.D284H,CCDC40:NM_001330508:exon5:c.G850C:p.D284H,CCDC40:NM_017950:exon5:c.G850C:p.D284H	Ciliary dyskinesia, primary, 15	0	1480	41	1	0	43	0.014319	.	.	.	256485	Primary_ciliary_dyskinesia_15|Primary_ciliary_dyskinesia|Male_infertility|not_specified|not_provided	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|Human_Phenotype_Ontology:HP:0003251,MONDO:MONDO:0005372,MedGen:C0021364|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0024	0.00139776	0.0041	0.0012	0.0013	0	0	0.0039	0.0145	0.0102	0.002639	408	154602	rs201042940	0.0025	0.0025	0.0023	0.0027	0.0191	0.0024	0.0024	0.0162	0.0151	0.0011	0.0013	0.0062	0	0.0002	0.0191	0.0021	0.0032	0.0087	0.0016	0.0016	0.0014	0.0018	0.0087	0.0014	0.0014	0.0066	0.0059	0.0004	0.0011	0.0008	0.0037	0	0.0002	0.0204	0.0021	0.0043	0.0087	0.004	0.72154	D	0.008	0.76473	D	1.0	0.90584	D	0.968	0.75168	D	.	.	.	.	0.633722	0.32813	D	2.83	0.82355	M	0.33	0.59314	T	-4.65	0.84601	D	0.53	0.55886	-0.2553	0.76216	T	0.347	0.71147	T	9	0.01399526	0.00295	T	.	.	.	0.174	0.44019	.	.	0.682504492806	0.67979	0.24220831427307404	0.24134	0.76162819002	0.64289	0.405483782291	0.25832	T	0.56747	0.85623	D	-0.250417	0.14046	T	-0.125376	0.61358	T	0.0493624269693155	0.05388	T	0.881912	0.64770	D	0.2342842	0.46246	0.24963558	0.50538	0.23541293	0.46377	0.29497436	0.55528	-7.763	0.62419	D	0.7666023762268043	0.84792	0.346	0.56831	A	.;.;.;.	.;.;.;.	2.747739	0.36012	20.1	0.99456458065418962	0.65581	0.51224	0.28846	D	AEFGBIJ	0.137980	0.25913	N	0.264883616036358	0.54378	3.603614	0.120231942431681	0.45586	2.81906	6.51723434342093E-4	0.07551	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.7	1.55	0.22356	0.526000	0.22680	0.951000	0.22923	0.676000	0.76740	0.531000	0.27197	0.039000	0.21534	0.958000	0.51230	0.2692:0.0:0.7308:0.0	8.520	0.32428	900	0.24599	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.017641	0.005051	0.019074	0.035088	0.050000	0.051724	0.003067	0.015152	0.1	3474.14	36	chr17	80048756	.	G	C	3474.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.113;DP=631;ExcessHet=0.2348;FS=0.406;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=1.13;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1195	8	0	2	0
chr17	80090216	80090216	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	38	25	77	71	15	234	0.814126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	39343.9	103	chr17	80090216	.	G	*	39343.9	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.578;DP=2135;ExcessHet=5.3821;FS=0.551;InbreedingCoeff=-0.3919;MLEAC=1;MLEAF=0.056;MQ=56.06;MQRankSum=-7.071;QD=20.96;ReadPosRankSum=-0.796;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:185:99:1|1:80090158_A_G:7090,7090,7090:80090158	8	0	1	1
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	24759.5	99	chr17	80090265	.	G	*	24759.5	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.12;DP=1591;ExcessHet=3.8694;FS=4.222;InbreedingCoeff=-0.2454;MLEAC=1;MLEAF=0.063;MQ=54.37;MQRankSum=-8.045;QD=20;ReadPosRankSum=0.184;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:1,0:60:99:1|1:80090158_A_G:2442,2445,2451:80090158	7	0	1	2
chr17	80099686	80099686	G	A	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_017950:exon20:c.G3340A:p.V1114M	Ciliary dyskinesia, primary, 15	0	1502	18	2	0	22	0.00727032	.	.	.	101777	Primary_ciliary_dyskinesia|not_specified|Glycogen_storage_disease,_type_II|not_provided|Primary_ciliary_dyskinesia_15	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365|MedGen:C3661900|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0020	0.0133786	0.0119	0.0011	0.0915	0.0001	0.0135	0.0028	0.0101	0.0050	0.0113388	1753	154602	rs61740509	0.0057	0.0057	0.0061	0.0054	0.0804	0.0056	0.0056	0.0782	0.0773	0.0008	0.0804	0	0	0.0119	0.0029	0.0030	0.0055	0.0051	0.0084	0.0084	0.0067	0.0101	0.0508	0.0080	0.0079	0.0479	0.0467	0.0014	0	0.0508	0	0.0004	0.0146	0	0.0034	0.0128	0.0054	0.008	0.58626	D	0.022	0.57587	D	0.99	0.63424	D	0.657	0.52725	P	.	.	.	.	0.999999	0.08975	N	2.085	0.57729	M	0.68	0.51952	T	-1.46	0.35792	N	0.137	0.13484	-1.1202	0.02319	T	0.021	0.08686	T	9	0.002135545	0.00031	T	.	.	.	0.193	0.47281	.	.	.	.	0.20466105173852012	0.20383	0.604538799879	0.55388	0.380866736174	0.22379	T	0.091463	0.38801	T	-0.436624	0.01354	T	-0.337424	0.40636	T	0.0120065135329067	0.00189	T	0.59504	0.22051	T	0.073619634	0.16465	0.089792505	0.21019	0.06872856	0.14997	0.089792505	0.21018	-6.161	0.47607	T	0.4338562103322819	0.52053	0.211	0.43949	B	.	.	2.856298	0.37726	20.6	0.99663980041635425	0.78138	0.08123	0.14090	N	AEFDBI	0.085725	0.17378	N	-0.152738319141504	0.35118	2.013125	-0.355627239107991	0.26335	1.453963	0.997528238130017	0.35716	0.700653	0.57754	0	0.491513	0.07743	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.61	2.42	0.28720	0.759000	0.26127	2.242000	0.31619	0.676000	0.76740	0.036000	0.20778	0.968000	0.29604	0.067000	0.16453	0.1705:0.1536:0.6759:0.0	6.333	0.20485	878	0.29785	.	.	.	.	.	rs61740509	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1787.43	34	chr17	80099686	.	G	A	1787.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.258;DP=671;ExcessHet=0;FS=2.098;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.116;SOR=0.524	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1220	9	0	1	0
chr17	80184162	80184162	G	A	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon4:c.G599A:p.S200N,CARD14:NM_024110:exon4:c.G599A:p.S200N,CARD14:NM_001366385:exon7:c.G599A:p.S200N	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	0	1494	25	1	2	29	0.00895522	.	.	.	79677	Pityriasis_rubra_pilaris|Psoriasis_2|Autoinflammatory_syndrome|not_provided	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.019	.	.	0.00219649	0.0110	0.0025	0.0058	0	0.0037	0.0140	0.0190	0.0120	0.0047218	730	154602	rs114688446	0.0076	0.0075	0.0074	0.0077	0.0082	0.0074	0.0074	0.0077	0.0077	0.0009	0.0022	0.0193	0	0.0055	0.0076	0.0079	0.0093	0.0082	0.0059	0.0059	0.0061	0.0058	0.0088	0.0056	0.0055	0.0082	0.0080	0.0012	0.0263	0.0052	0.0141	0	0.0052	0.0136	0.0088	0.0038	0.0075	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.364763	0.13616	N	0.717962	1	0.08975	N	0.025	0.08010	N	1.38	0.34050	T	1.25	0.01011	N	0.044	0.01658	-0.9915	0.32218	T	0.017	0.07092	T	10	0.003829211	0.00072	T	.	.	.	0.019	0.03383	.	.	0.402471007487	0.39861	0.04298658703997481	0.04243	0.137527042465	0.15505	0.439996689558	0.30577	T	0.004751	0.04164	T	-0.738554	0.00021	T	-0.826125	0.01333	T	0.000785814729074534	0.00007	T	0.552145	0.19060	T	0.03255677	0.03305	0.05866523	0.10878	0.039173733	0.05359	0.060511973	0.11535	-6.907	0.54789	T	0.1199088770354703	0.11220	0.097	0.15966	B	.;.;.;.	.;.;.;.	-0.966692	0.00820	0.028	0.19516134826937834	0.00662	0.00717	0.03025	N	AEFDBI	0.032680	0.03735	N	-1.67117466872922	0.00949	0.04110583	-1.68207961245203	0.01218	0.0548863	0.0168506280012361	0.12881	0.549168	0.22868	0	0.627178	0.54094	0	0.505578	0.09266	0	0.542086	0.14980	0	.	.	3.58	-3.66	0.04200	-0.279000	0.08512	-0.062000	0.12412	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.5403:0.1435:0.3162:0.0	5.853	0.17952	884	0.28482	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	2210.43	33	chr17	80184162	.	G	A	2210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.928;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=-1.275;SOR=0.664	GT:AD:DP:GQ:PL	0/1:131,101:232:99:2222,0,3281	9	0	1	0
chr17	80332150	80332150	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon21:c.C3662T:p.A1221V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0494924148924	.	.	0.0003	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs777134779	3.899e-05	3.694e-05	2.994e-05	4.829e-05	0.0006	3.054e-05	2.736e-05	0.0005	0.0005	0	0	0	0	0	0	9.269e-07	3.453e-05	0.0006	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.076	0.34269	T	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	0.93686	0.26906	N	.	.	.	1.62	0.28391	T	-2.61	0.56144	D	0.232	0.26111	-0.5074	0.68381	T	0.292	0.66355	T	8	0.07768121	0.12290	T	0.049492	0.63837	D	0.280	0.59740	.	.	0.464098490096	0.46036	.	.	1.05796501594	0.76374	0.408727765083	0.26281	T	0.03427	0.23581	T	-0.507013	0.00522	T	-0.561664	0.16222	T	0.251108399562672	0.22922	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.60068	A	.;.	.;.	1.970933	0.25037	16.62	0.89979148683726462	0.19272	0.89949	0.50755	D	AEFGBI	0.096577	0.19493	N	0.285179967165608	0.55396	3.703762	0.195729953180958	0.49614	3.162365	0.00254088067087355	0.09511	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.57	3.56	0.39892	2.260000	0.42923	2.515000	0.33093	0.599000	0.40250	0.967000	0.34061	0.989000	0.31174	0.091000	0.17840	0.0:0.7505:0.0:0.2495	10.928	0.46413	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1022.43	89	chr17	80332150	.	C	T	1022.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.083;DP=798;ExcessHet=0;FS=2.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.985;SOR=1.022	GT:AD:DP:GQ:PL	0/0:92,0:92:99:0,120,1800	9	0	1	0
chr17	80346013	80346013	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.C7678T:p.P2560S	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0318653279283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999918	0.51042	D	.	.	.	1.72	0.26588	T	-7.66	0.95511	D	0.614	0.63120	-0.7031	0.60290	T	0.196	0.55013	T	10	0.7384324	0.74786	D	0.031865	0.53843	D	0.265	0.57870	.	.	0.575045364607	0.57173	.	.	1.08423785368	0.77231	0.767387509346	0.77033	T	0.284914	0.65770	T	-0.00925805	0.50369	T	-0.251075	0.49712	T	0.999060332775116	0.96056	D	0.980002	0.93225	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.68276	P	.;.	.;.	3.643750	0.51676	23.1	0.96507638980641508	0.30065	0.98849	0.87668	D	AEFDGBI	0.847648	0.76450	D	0.818593130469345	0.87252	9.154863	0.753970942322189	0.86454	8.894099	0.999999999449475	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	7.603000	0.82048	7.564000	0.60548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:1.0:0.0:0.0	18.759	0.91809	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2994.43	78	chr17	80346013	.	C	T	2994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.95;DP=617;ExcessHet=0;FS=2.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=0.196;SOR=0.88	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1433	9	0	1	0
chr17	80353039	80353039	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon33:c.C10403T:p.A3468V	.	0	1521	1	0	0	1	0.000328623	.	.	.	3043379	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	0.00631646711528	7.7e-05	0.000599042	0.0002	0	8.655e-05	0.0009	0.0002	0.0002	0	0.0001	0.0001682	26	154602	rs142798005	0.0002	0.0002	0.0002	0.0002	0.0054	0.0002	0.0002	0.0048	0.0046	2.987e-05	4.472e-05	0	0.0054	3.827e-05	0	3.237e-05	8.28e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0021	8.657e-05	7.25e-05	0.0012	0.0009	7.216e-05	0	0.0001	0	0.0021	0	0	4.41e-05	0	0.0002	0.254	0.16903	T	0.26	0.23097	T	.	.	.	.	.	.	0.000039	0.00348	N	3.960300	1	0.08975	N	.	.	.	1.93	0.22881	T	-1.07	0.27876	N	0.078	0.05287	-1.0612	0.11459	T	0.029	0.12322	T	10	0.011434823	0.00250	T	0.006316	0.16580	T	0.021	0.04004	.	.	0.0297737177859	0.01360	.	.	0.326212291116	0.34772	0.196533188224	0.00363	T	0.019461	0.15501	T	-0.624186	0.00104	T	-0.764462	0.02955	T	0.032409523586149	0.02374	T	0.116088	0.00887	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09530	B	.;.	.;.	-0.295530	0.02636	0.333	0.829785224779647	0.14476	0.06935	0.12960	N	AEFDGBCI	0.032366	0.03643	N	-1.82817088362825	0.00480	0.02065534	-1.9618628707791	0.00368	0.01623934	0.999999921057964	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	-11.4	0.00070	-0.650000	0.05477	-1.974000	0.04407	-0.766000	0.03482	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1076:0.3611:0.2514:0.2798	2.554	0.04467	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1288.43	36	chr17	80353039	.	C	T	1288.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=461;ExcessHet=0;FS=2.288;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.305;SOR=0.507	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1345	9	0	1	0
chr17	81103988	81103988	C	T	exonic	BAIAP2	.	nonsynonymous SNV	BAIAP2:NM_001385157:exon4:c.C217T:p.R73C,BAIAP2:NM_001385159:exon4:c.C217T:p.R73C,BAIAP2:NM_001385150:exon7:c.C712T:p.R238C,BAIAP2:NM_001385151:exon7:c.C712T:p.R238C,BAIAP2:NM_001385152:exon7:c.C712T:p.R238C,BAIAP2:NM_001385153:exon7:c.C712T:p.R238C,BAIAP2:NM_001385154:exon7:c.C712T:p.R238C,BAIAP2:NM_001385155:exon7:c.C712T:p.R238C,BAIAP2:NM_001385156:exon7:c.C712T:p.R238C,BAIAP2:NM_001385158:exon7:c.C217T:p.R73C,BAIAP2:NM_001385147:exon8:c.C772T:p.R258C,BAIAP2:NM_001385149:exon8:c.C772T:p.R258C,BAIAP2:NM_001144888:exon9:c.C946T:p.R316C,BAIAP2:NM_001385127:exon9:c.C946T:p.R316C,BAIAP2:NM_001385128:exon9:c.C946T:p.R316C,BAIAP2:NM_001385131:exon9:c.C946T:p.R316C,BAIAP2:NM_001385138:exon9:c.C946T:p.R316C,BAIAP2:NM_001385139:exon9:c.C946T:p.R316C,BAIAP2:NM_001385140:exon9:c.C946T:p.R316C,BAIAP2:NM_001385141:exon9:c.C946T:p.R316C,BAIAP2:NM_001385144:exon9:c.C940T:p.R314C,BAIAP2:NM_001385145:exon9:c.C946T:p.R316C,BAIAP2:NM_001385146:exon9:c.C946T:p.R316C,BAIAP2:NM_001385148:exon9:c.C772T:p.R258C,BAIAP2:NM_006340:exon9:c.C946T:p.R316C,BAIAP2:NM_017450:exon9:c.C946T:p.R316C,BAIAP2:NM_017451:exon9:c.C946T:p.R316C,BAIAP2:NM_001385129:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385130:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385132:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385133:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385134:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385135:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385136:exon10:c.C1045T:p.R349C,BAIAP2:NM_001385137:exon10:c.C1021T:p.R341C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0503443484249	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1351746625	8.215e-06	8.209e-06	6.811e-06	9.633e-06	2.319e-05	4.38e-06	3.46e-06	3.85e-06	2.76e-06	0	0	0	0	1.91e-05	0	8.094e-06	0	2.319e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.825e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.825e-05	0	0	0	0	0	0	0	0	0	0.164	0.24090	T	0.183	0.44106	T	0.986	0.64738	D	0.541	0.52249	P	0.669181	0.10357	N	0.843085	0.954833	0.42649	D	1.39	0.34934	L	0.77	0.49642	T	-1.01	0.28084	N	0.536	0.57433	-1.0135	0.25816	T	0.137	0.45356	T	10	0.19489345	0.35319	T	0.050344	0.64202	D	0.078	0.22779	0.287	0.24601	0.828616411752	0.82699	0.5786446564406453	0.57793	1.53347345661	0.87619	0.477722197771	0.35743	T	0.238088	0.60592	T	-0.171319	0.25036	T	-0.483864	0.24036	T	0.766942977905273	0.44257	D	0.970103	0.89229	D	0.10961587	0.25914	0.06613475	0.13503	0.10961587	0.25914	0.06613475	0.13503	-8.017	0.61601	D	.	.	0.112	0.40489	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.808967	0.78206	26.9	0.99861370394027782	0.94002	0.79201	0.39202	D	AEFBI	0.504224	0.53588	D	0.258682633588004	0.54069	3.573539	0.302891368488111	0.55707	3.733754	0.932966822118829	0.27109	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.07	4.04	0.46262	1.133000	0.31043	5.905000	0.50941	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.994000	0.71098	0.3039:0.587:0.1091:0.0	8.991	0.35183	.	.	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1171.43	35	chr17	81103988	.	C	T	1171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.858;DP=428;ExcessHet=0;FS=0.727;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.885;SOR=0.585	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1120	9	0	1	0
chr17	81120894	81120896	CTT	-	exonic	AATK	.	nonframeshift deletion	AATK:NM_004920:exon10:c.2731_2733del:p.K911del,AATK:NM_001080395:exon11:c.3040_3042del:p.K1014del	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.012e-05	0	0	0	0	0.0001	0.0036	0	2.59e-05	4	154602	rs749135838	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	6.064e-05	0	0	0	0	0.0009	0.0001	0.0001	0.0002	7.891e-05	7.878e-05	7.717e-05	8.072e-05	0.0002	4.5e-05	3.515e-05	4.771e-05	3.343e-05	7.232e-05	0	6.537e-05	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1145.39	40	chr17	81120893	.	ACTT	A	1145.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.551;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=1.21;SOR=0.715	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	9	0	1	0
chr17	81447639	81447639	C	T	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon11:c.C3767T:p.A1256V,BAHCC1:NM_001291324:exon12:c.C3860T:p.A1287V	.	390	1130	1	1	0	3	0.00132567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00939808467228	0.0026	0.00239617	0.0051	0.0015	0.0071	0	0	0.0085	0.004	0.0008	0.0026196	405	154602	rs142418298	0.0033	0.0033	0.0033	0.0033	0.0048	0.0032	0.0031	0.0046	0.0045	0.0013	0.0026	0.0037	2.964e-05	0.0004	0.0007	0.0048	0.0038	0.0005	0.0035	0.0035	0.0036	0.0033	0.0055	0.0032	0.0031	0.0051	0.0049	0.0011	0	0.0047	0.0040	0	0.0005	0.0034	0.0055	0.0057	0.0004	0.27	0.16038	T	0.205	0.27414	T	0.005	0.12996	B	0.005	0.11217	B	0.996062	0.07997	N	0.997282	1	0.08975	N	.	.	.	1.81	0.25182	T	-1.08	0.28084	N	0.014	0.00160	-0.9790	0.35231	T	0.022	0.09193	T	10	0.0049081445	0.00105	T	0.009398	0.24646	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.17422729968219483	0.17341	0.0837104849126	0.09440	0.3782081604	0.22001	T	0.012878	0.11238	T	-0.593334	0.00160	T	-0.623969	0.10876	T	0.00221729881763438	0.00023	T	0.649135	0.26722	T	0.014207058	0.00084	0.031005628	0.01631	0.014207058	0.00084	0.031005628	0.01631	-5.128	0.38201	T	.	.	0.079	0.12465	B	.;.	.;.	0.124521	0.05214	1.723	0.85662281518378458	0.16033	0.13069	0.17645	N	AEFBHCI	0.061524	0.11769	N	-1.22940982936709	0.04578	0.206923	-1.27530979844889	0.04766	0.225622	0.00436527991188606	0.10516	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.07	-1.83	0.07410	-1.140000	0.03321	-2.669000	0.03486	-0.177000	0.10537	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1419:0.5308:0.0:0.3272	4.966	0.13438	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003543	0.005155	0.006831	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	845.43	38	chr17	81447639	.	C	T	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.21;DP=507;ExcessHet=0;FS=6.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=-0.407;SOR=1.418	GT:AD:DP:GQ:PL	0/0:55,0:55:99:0,120,1800	9	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I,BAHCC1:NM_001291324:exon25:c.G6085A:p.V2029I	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011089	0.005051	0.008152	0.002924	0.000000	0.000000	0.012195	0.034091	0.1	3125.14	36	chr17	81460363	.	G	A	3125.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.99;DP=584;ExcessHet=0.2348;FS=0.44;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.304;SOR=0.652	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	8	0	2	0
chr17	81536183	81536183	C	T	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon3:c.C1021T:p.R341W,FSCN2:NM_012418:exon3:c.C1021T:p.R341W	Retinitis pigmentosa 30	0	1520	2	0	0	2	0.000657462	.	.	.	846511	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.236948481749	.	.	5.612e-05	0	0	0	0	5.102e-05	0	0.0002	2.59e-05	4	154602	rs774101992	2.967e-05	3.01e-05	3.154e-05	2.779e-05	0.0002	2.236e-05	1.987e-05	8.155e-05	6.361e-05	6.003e-05	4.629e-05	0	2.543e-05	0	0.0002	1.628e-05	0.0001	0.0001	3.288e-05	3.284e-05	1.285e-05	5.385e-05	7.244e-05	1.261e-05	7.98e-06	1.921e-05	1.032e-05	7.244e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.004	0.65419	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000272	0.46590	D	0.150678	0.99893	0.45716	D	2.565	0.75005	M	1.45	0.32958	T	-3.79	0.71639	D	0.607	0.63798	-0.7148	0.59717	T	0.178	0.52396	T	10	0.6162586	0.67722	D	0.236948	0.88522	D	0.242	0.54781	0.599	0.72984	0.69193853668	0.68929	0.5778549564693469	0.57714	0.42870744388	0.43186	0.517102599144	0.41219	T	0.547279	0.84607	D	-0.187919	0.22565	T	-0.292374	0.45526	T	0.779930770397186	0.45045	D	0.957804	0.84101	D	0.2542238	0.48449	0.29539672	0.55571	0.2542238	0.48449	0.29539672	0.55570	-10.412	0.77414	D	0.5014380624579805	0.57659	0.110	0.25850	B	.;.	.;.	4.872576	0.79831	27.2	0.99908320555794961	0.97875	0.64562	0.32447	D	AEFDBCI	0.612807	0.60074	D	0.180611373950839	0.50270	3.218527	0.0136126093584109	0.40346	2.406366	0.999208789649505	0.38742	0.764865	0.99124	0	0.550933	0.16991	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.69	2.42	0.28720	0.283000	0.18605	2.553000	0.33274	0.549000	0.26987	0.014000	0.18986	0.999000	0.35428	0.984000	0.60418	0.2663:0.7337:0.0:0.0	12.803	0.56975	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.100000	0.000000	0.000000	0.000000	0.05	833.43	41	chr17	81536183	.	C	T	833.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=428;ExcessHet=0;FS=0.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.86;ReadPosRankSum=0.954;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	9	0	1	0
chr17	81537057	81537057	G	-	exonic	FSCN2	.	frameshift deletion	FSCN2:NM_001077182:exon5:c.1528delG:p.T511Pfs*23,FSCN2:NM_012418:exon5:c.1456delG:p.T487Pfs*23	Retinitis pigmentosa 30	2	1518	2	0	0	2	0.000658328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.049e-06	4.104e-06	1.501e-06	4.647e-06	5.722e-05	7.1e-07	4.8e-07	1.935e-05	1.1e-05	0	0	0	0	0	0	0	0	5.722e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	404.39	39	chr17	81537056	.	CG	C	404.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.996;DP=314;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.161;SOR=0.693	GT:AD:DP:GQ:PL	0/0:23,0:23:63:0,63,945	9	0	1	0
chr17	81565576	81565576	C	T	exonic	NPLOC4	.	nonsynonymous SNV	NPLOC4:NM_001369698:exon16:c.G1613A:p.R538Q,NPLOC4:NM_017921:exon16:c.G1598A:p.R533Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0212225685932	8e-05	.	4.459e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs371370139	9.983e-06	1.505e-05	7.043e-06	1.3e-05	2.736e-05	5.79e-06	4.53e-06	5.46e-06	3.99e-06	0	2.736e-05	0	0	0	0	1.017e-05	1.722e-05	1.259e-05	3.284e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	4.823e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.084	0.32929	T	0.107	0.65728	T	0.894	0.54824	P	0.463	0.46548	P	0.000002	0.62929	D	0.095949	0.999964	0.81001	D	1.955	0.52871	M	.	.	.	-2.3	0.51157	N	0.27	0.37717	-0.6296	0.63588	T	0.241	0.60941	T	9	0.39325237	0.55043	T	0.021223	0.43954	T	0.367	0.68670	.	.	0.494737054661	0.49108	0.3348561710470445	0.33398	1.76827272956	0.91258	0.716780781746	0.69577	T	0.077252	0.41054	T	-0.0110075	0.50126	T	-0.253588	0.49462	T	0.571511328220367	0.35292	D	0.979335	0.92822	D	0.19193189	0.40841	0.16268128	0.37777	0.19193189	0.40840	0.16268128	0.37776	-3.631	0.18539	T	.	.	0.109	0.37615	B	.;.;.	.;.;.	4.216798	0.63755	24.6	0.99694346204846673	0.80180	0.92923	0.56880	D	AEFGBI	0.501252	0.53416	D	0.295894600881606	0.55941	3.758157	0.28421219525576	0.54617	3.626187	0.999999998939791	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.02	5.02	0.66742	3.298000	0.51525	5.743000	0.49584	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.080000	0.17246	0.0:1.0:0.0:0.0	18.591	0.91167	.	.	Nuclear pore localisation protein NPL4, C-terminal;Nuclear pore localisation protein NPL4, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1083.43	35	chr17	81565576	.	C	T	1083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.376;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.93;ReadPosRankSum=0.673;SOR=0.752	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1174	9	0	1	0
chr17	81645388	81645388	G	A	exonic	TSPAN10	.	nonsynonymous SNV	TSPAN10:NM_001290212:exon3:c.G433A:p.E145K,TSPAN10:NM_031945:exon3:c.G433A:p.E145K	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.101894637628	0.0004	0.000998403	0.0007	0.0001	0.0003	0	0	0.0009	0.0012	0.0014	0.0005757	89	154602	rs200753733	0.0005	0.0005	0.0005	0.0005	0.0033	0.0005	0.0004	0.0022	0.0018	0.0002	0.0008	0.0092	5.066e-05	0	0.0033	0.0002	0.0011	0.0009	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0003	0.0004	0.0003	4.809e-05	0	0.0004	0.0092	0.0002	0	0.0034	0.0003	0.0005	0.0010	.	.	.	0.021	0.61642	D	.	.	.	.	.	.	0.000554	0.43413	D	0.151092	0.96065	0.26138	N	.	.	.	.	.	.	.	.	.	0.688	0.70088	0.033	0.82908	D	0.686	0.89154	D	10	0.016880631	0.00357	T	0.101895	0.77505	D	.	.	.	.	0.312001716656	0.30816	0.6988886885356386	0.69829	.	.	0.558574199677	0.47066	T	.	.	.	-0.00554941	0.50887	T	0.178719	0.81921	D	0.11735226213932	0.14168	T	0.857714	0.58002	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.44948	B	.;.	.;.	4.429691	0.68686	25.3	0.99917698568920754	0.98518	0.95764	0.66054	D	AEFBI	0.728626	0.67659	D	0.501199193131891	0.67160	5.044892	0.352255519516988	0.58644	4.036116	0.950736610003263	0.27914	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.075334	0.01956	0	.	.	4.15	4.15	0.47978	2.673000	0.46524	6.630000	0.56149	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.8412:0.1588	13.277	0.59627	.	.	Tetraspanin, conserved site;Tetraspanin, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.012228	0.000000	0.000000	0.008621	0.009146	0.003788	0.05	877.43	71	chr17	81645388	.	G	A	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.383;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=1.94;SOR=0.593	GT:AD:DP:GQ:PL	0/0:68,0:68:99:0,120,1800	9	0	1	0
chr17	81647992	81647992	G	C	exonic	TSPAN10	.	nonsynonymous SNV	TSPAN10:NM_001290212:exon4:c.G766C:p.D256H,TSPAN10:NM_031945:exon4:c.G766C:p.D256H	.	419	1083	20	0	0	20	0.00914913	.	.	.	3393259	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.156	.	0.0003	0.00259585	0.0026	0.0001	0.0008	0	0	0.0009	0.0059	0.0137	0.0018564	287	154602	rs201722214	0.0011	0.0011	0.0008	0.0015	0.0107	0.0011	0.0011	0.0101	0.0099	8.965e-05	0.0004	0.0013	0	3.851e-05	0.0038	0.0005	0.0010	0.0107	0.0009	0.0009	0.0007	0.0010	0.0103	0.0007	0.0007	0.0081	0.0072	2.405e-05	0	0.0003	0.0012	0.0004	0	0	0.0010	0.0009	0.0103	.	.	.	0.05	0.48336	T	.	.	.	.	.	.	0.060957	0.02139	N	2.072080	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.076	0.09772	-0.9687	0.37468	T	0.036	0.15509	T	9	0.0077396035	0.00176	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.8019243671101096	0.80146	.	.	0.333562344313	0.15471	T	.	.	.	-0.429711	0.01488	T	-0.380631	0.35649	T	0.111549477771691	0.13583	T	0.563244	0.19836	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.34094	B	.;.	.;.	1.474146	0.18984	14.03	0.94576230690916896	0.25115	0.05455	0.11333	N	AEFBI	0.337054	0.43497	N	-0.504914632844449	0.21921	1.16686	-0.739732861727419	0.15975	0.8428517	0.160109853412967	0.17579	0.163419	0.03694	0	0.059962	0.00310	0	0.172434	0.04157	0	0.085113	0.02366	1	.	.	4.48	-4.39	0.03360	-0.122000	0.10602	-0.210000	0.10862	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.893000	0.43066	0.387:0.0992:0.312:0.2018	1.321	0.01989	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.008772	0.000000	0.008621	0.012195	0.003788	0.05	1413.43	34	chr17	81647992	.	G	C	1413.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.363;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-1.07;SOR=0.74	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	9	0	1	0
chr17	81813627	81813627	G	C	exonic	GCGR	.	nonsynonymous SNV	GCGR:NM_000160:exon14:c.G1372C:p.D458H	.	400	1108	14	0	0	14	0.00627803	.	.	.	715832	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.00419329	0.0025	0.0095	0.0066	0	0	0.0028	0.0060	0.0005	0.0006468	100	154602	rs138492107	0.0012	0.0012	0.0012	0.0013	0.0118	0.0012	0.0012	0.0099	0.0096	0.0109	0.0025	0.0050	0	0	0.0118	0.0008	0.0028	0.0003	0.0040	0.0040	0.0042	0.0037	0.0103	0.0037	0.0036	0.0095	0.0092	0.0103	0.0143	0.0039	0.0026	0	0	0.0102	0.0011	0.0057	0.0004	0.117	0.28271	T	0.135	0.34124	T	0.574	0.38693	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	1.895	0.50365	L	0.67	0.52187	T	-0.25	0.11008	N	0.104	0.08786	-1.0786	0.07622	T	0.050	0.21182	T	9	0.0039077997	0.00074	T	.	.	.	0.035	0.08770	.	.	0.602481039113	0.59930	0.45310581307588915	0.45228	0.00427848688509	0.00378	0.51581710577	0.41038	T	0.09254	0.39024	T	-0.540583	0.00332	T	-0.539892	0.18306	T	0.00787486741859115	0.00093	T	0.491951	0.15143	T	0.034115586	0.03767	0.045958523	0.06299	0.027961636	0.02063	0.051370718	0.08253	-4.13	0.25730	T	.	.	0.106	0.19839	B	.	.	1.237391	0.16329	12.47	0.71745044104477607	0.09734	0.19543	0.20701	N	AEFDBI	0.703776	0.65970	D	-0.849401069739707	0.12065	0.5858335	-0.917859422455098	0.11672	0.5961128	0.0573001970497789	0.15087	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.21	2.21	0.27042	0.421000	0.20999	1.427000	0.26414	-0.113000	0.14837	0.000000	0.06391	0.004000	0.18990	0.003000	0.05239	0.2216:0.0:0.7784:0.0	6.665	0.22229	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013784	0.037975	0.034247	0.005000	0.000000	0.000000	0.000000	0.000000	0.05	1296.43	105	chr17	81813627	.	G	C	1296.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.53;DP=427;ExcessHet=0;FS=2.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.404;SOR=1.03	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1194	9	0	1	0
chr17	81902747	81902747	G	C	exonic	NPB	.	stoploss	NPB:NM_148896:exon2:c.G377C:p.X126S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.827e-05	0	0	0	0	3.354e-05	0	0	1.29e-05	2	154602	rs376467227	3.716e-05	3.694e-05	4.107e-05	3.32e-05	0.0003	2.911e-05	2.607e-05	6.123e-05	2.962e-05	0	0	3.856e-05	0	0	0.0003	4.326e-05	4.991e-05	0	3.285e-05	3.283e-05	1.285e-05	5.379e-05	7.35e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.35e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	N	.	.	.	.	.	.	.	.	.	0.133	0.13198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.271604	0.11579	T	-0.545051	0.17804	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.379649	0.17910	13.44	0.82676046289539962	0.14316	0.88962	0.49151	D	AEFDBHCI	.	.	.	0.609770981423588	0.73793	6.024354	0.313754009456253	0.56347	3.797943	0.999999999740359	0.74766	0.184171	0.03992	0	0.221468	0.04790	0	0.132232	0.03703	1	0.082385	0.02281	0	0.669507	0.42170	3.61	3.61	0.40494	1.630000	0.36693	3.481000	0.38649	0.656000	0.54149	1.000000	0.71638	0.999000	0.35428	0.045000	0.14751	0.1008:0.0:0.8992:0.0	9.331	0.37185	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1078.43	33	chr17	81902747	.	G	C	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=389;ExcessHet=0;FS=3.054;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=1.08;SOR=1.077	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1110	9	0	1	0
chr17	81941276	81941280	CCTGG	-	exonic	MYADML2	.	frameshift deletion	MYADML2:NM_001145113:exon3:c.462_466del:p.Q155Efs*29	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274229325	4.293e-06	4.104e-06	1.412e-06	7.253e-06	0.0002	1.54e-06	1.01e-06	7.4e-07	2.1e-07	0	0	0	0	0	0.0002	2.781e-06	3.45e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1725.39	72	chr17	81941275	.	ACCTGG	A	1725.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=528;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=0.448;SOR=0.708	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,107,1253	9	0	1	0
chr17	82080730	82080730	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon39:c.G6788A:p.R2263Q	.	.	.	.	.	.	.	.	.	.	.	572429	not_specified|Epileptic_encephalopathy	MedGen:CN169374|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.0140364135198	0.0002	.	7.181e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs377735574	5.312e-05	5.541e-05	6.031e-05	4.583e-05	6.14e-05	4.313e-05	3.986e-05	4.919e-05	4.502e-05	2.996e-05	2.348e-05	3.87e-05	2.548e-05	0	0	6.14e-05	5.005e-05	2.376e-05	7.889e-05	7.881e-05	5.14e-05	0.0001	0.0001	4.499e-05	3.514e-05	5.843e-05	4.24e-05	7.243e-05	0	6.545e-05	0	0	0	0	0.0001	0	0	0.082	0.33254	T	0.122	0.35710	T	0.27	0.31762	B	0.029	0.21540	B	0.051212	0.23002	N	0.412013	0.984209	0.24820	N	1.275	0.32135	L	1.73	0.26445	T	-0.86	0.23372	N	0.201	0.22228	-1.0572	0.12465	T	0.030	0.12717	T	10	0.12364861	0.23476	T	0.014036	0.33885	T	0.032	0.07718	.	.	0.313793572803	0.30980	0.2850345100746547	0.28416	.	.	0.295706242323	0.09763	T	0.262409	0.63398	T	-0.357633	0.04266	T	-0.55452	0.16894	T	0.0975277184799988	0.12083	T	0.89621	0.63821	D	0.1377711	0.31888	0.10189956	0.24406	0.1377711	0.31888	0.10189956	0.24406	-4.743	0.33920	T	.	.	0.076	0.05935	B	.;.	.;.	2.661588	0.34679	19.69	0.98842124901420891	0.47135	0.80792	0.40340	D	AEFBCI	0.148037	0.27183	N	-0.818435208494087	0.12839	0.6284859	-0.782693345345308	0.14919	0.7820732	0.133995310268271	0.17146	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.47	-0.911	0.09973	0.669000	0.24823	0.165000	0.15451	-0.242000	0.07441	1.000000	0.71638	0.986000	0.30841	0.667000	0.33166	0.0:0.4968:0.0:0.5032	10.441	0.43652	.	.	Thioesterase;Thioesterase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000509	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1415.43	40	chr17	82080730	.	C	T	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.443;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.161;SOR=0.737	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1147	9	0	1	0
chr17	82081769	82081769	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon37:c.G6238A:p.V2080I	.	.	.	.	.	.	.	.	.	.	.	467727	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.036	0.042255236126	.	.	8.489e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs766446511	9.587e-06	9.577e-06	8.176e-06	1.101e-05	4.472e-05	5.56e-06	4.35e-06	7.41e-06	2.77e-06	0	4.472e-05	7.653e-05	0	1.925e-05	0	7.194e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.898	0.02436	T	0.8	0.04066	T	0.001	0.07471	B	0.006	0.12133	B	0.002989	0.35606	N	0.268092	0.999905	0.19694	N	-0.72	0.01791	N	1.78	0.25678	T	-0.18	0.09796	N	0.075	0.08088	-0.9725	0.36670	T	0.015	0.06090	T	10	0.040068626	0.02546	T	0.042255	0.60367	D	0.036	0.09122	0.343	0.33626	0.171220215726	0.16700	0.13875362443298797	0.13798	.	.	0.304535120726	0.11081	T	0.258727	0.62991	T	-0.451272	0.01110	T	-0.71015	0.05287	T	0.0184988421316662	0.00566	T	0.805919	0.45429	T	0.061256893	0.12665	0.044182636	0.05666	0.061256893	0.12665	0.044182636	0.05665	-3.083	0.11102	T	.	.	0.070	0.03443	B	.;.	.;.	-0.829303	0.01051	0.045	0.33598804749917011	0.02010	0.68803	0.33941	D	AEFDGBHCI	0.094996	0.19200	N	-1.58294585894376	0.01352	0.05890653	-1.47685422598301	0.02535	0.1167565	0.853558214495612	0.25090	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.68	-1.72	0.07671	0.129000	0.15656	-5.033000	0.01877	-1.064000	0.01611	0.964000	0.33853	0.000000	0.08366	0.000000	0.00833	0.0:0.5001:0.0:0.4999	12.628	0.56002	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2083.43	66	chr17	82081769	.	C	T	2083.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.342;DP=607;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.62;SOR=0.616	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1320	9	0	1	0
chr17	82082654	82082654	C	T	exonic	FASN	.	nonsynonymous SNV	FASN:NM_004104:exon34:c.G5792A:p.R1931Q	.	3	1518	1	0	0	1	0.000329272	.	.	.	532051	Epileptic_encephalopathy	Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.050	0.00674757097754	0.0008	0.000998403	0.0003	0.0018	0.0003	0	0	8.043e-05	0.0012	0.0002	0.0002199	34	154602	rs148840593	0.0001	0.0001	0.0001	0.0001	0.0021	0.0001	0.0001	0.0017	0.0016	0.0021	0.0003	0	0.0003	2.015e-05	0.0017	3.418e-05	0.0002	0.0002	0.0007	0.0007	0.0007	0.0006	0.0023	0.0006	0.0005	0.0019	0.0018	0.0023	0	0.0001	0	0	0	0.0034	5.88e-05	0.0005	0	0.498	0.07797	T	0.393	0.17478	T	0.0	0.02946	B	0.001	0.04355	B	0.002507	0.36425	N	0.267827	0.999821	0.20203	N	1.005	0.25186	L	1.02	0.40749	T	-0.15	0.09297	N	0.173	0.18512	-1.0521	0.13818	T	0.061	0.25455	T	10	0.01549536	0.00325	T	0.006748	0.17840	T	0.050	0.13987	.	.	0.196089822672	0.19227	0.2991452484161038	0.29827	.	.	0.356190770864	0.18829	T	0.272486	0.64487	T	-0.620177	0.00110	T	-0.669166	0.07662	T	0.0148213349418483	0.00312	T	0.630737	0.24588	T	0.18019292	0.39128	0.056201965	0.09999	0.18019292	0.39127	0.056201965	0.09999	-2.869	0.08837	T	.	.	0.068	0.02765	B	.;.	.;.	1.869185	0.23742	16.13	0.7276514664502266	0.10088	0.61468	0.31493	D	AEFBHCI	0.083218	0.16858	N	-0.658788810407579	0.17204	0.8833234	-0.533336582978874	0.21249	1.148671	0.932199087745562	0.27079	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.62	3.54	0.39650	2.529000	0.45292	1.437000	0.26495	-0.153000	0.12021	0.937000	0.32526	0.192000	0.23504	0.002000	0.04165	0.0:0.0825:0.159:0.7584	6.322	0.20428	.	.	Polyketide synthase, ketoreductase domain;Polyketide synthase, ketoreductase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004036	0.000000	0.006812	0.005917	0.000000	0.008621	0.000000	0.003788	0.05	225.43	32	chr17	82082654	.	C	T	225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.62;DP=278;ExcessHet=0;FS=4.775;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.568;SOR=2.303	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,587	9	0	1	0
chr17	82084716	82084716	-	CTA	exonic	FASN	.	nonframeshift insertion	FASN:NM_004104:exon27:c.4564_4565insTAG:p.E1521_D1522insV	.	1	1519	2	0	0	2	0.000657895	.	.	.	469094	not_provided|Epileptic_encephalopathy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0200134,MedGen:C0543888	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0.0004	0	0.0002	3.84e-05	1	26028	rs764277201	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0005	0.0003	3.115e-05	0.0002	0	0	0	0.0011	0.0002	0.0002	9.965e-05	9.203e-05	9.194e-05	0.0002	1.346e-05	0.0002	5.53e-05	4.367e-05	9.049e-05	7.013e-05	2.415e-05	0	6.545e-05	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002047	0.000000	0.001385	0.003012	0.000000	0.000000	0.006289	0.000000	0.05	2606.39	40	chr17	82084716	.	T	TCTA	2606.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=0.461;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1210	9	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	75.4	40	chr17	82253179	.	G	C	75.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.094;DP=1337;ExcessHet=0;FS=177.423;InbreedingCoeff=-0.1786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.95;SOR=9.346	GT:AD:DP:GQ:PL	0/1:170,46:219:84:84,0,2813	5	0	1	4
chr17	82322268	82322268	A	T	exonic	SECTM1	.	nonsynonymous SNV	SECTM1:NM_003004:exon5:c.T640A:p.S214T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00265390067575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.06282	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.69	0.01958	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0348	0.18920	T	0.033	0.13986	T	8	0.031230569	0.01256	T	0.002654	0.05406	T	0.038	0.09825	0.077	0.00572	0.0297737177859	0.01360	0.027832803006205806	0.02733	0.121801063686	0.13726	0.262978225946	0.05249	T	0.008384	0.07706	T	-0.388804	0.02739	T	-0.796266	0.01997	T	0.019934226235784	0.00694	T	0.307069	0.05914	T	0.052567743	0.09824	0.036751214	0.03185	0.052567743	0.09824	0.036751214	0.03184	-3.763	0.20253	T	.	.	0.081	0.08176	B	.	.	-0.569078	0.01659	0.117	0.28252163804754304	0.01442	0.01036	0.03877	N	AEFDGBCI	0.061930	0.11872	N	-1.76810276438476	0.00628	0.02707791	-1.8390277119024	0.00642	0.0285435	0.999992511805906	0.74766	0.653496	0.48692	0	0.596491	0.49125	0	0.576033	0.28219	0	0.683535	0.66460	0	.	.	0.775	-1.55	0.08105	-0.693000	0.05222	0.050000	0.13987	-1.810000	0.00613	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.2668:0.0:0.4029:0.3303	1.648	0.02598	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1789.43	135	chr17	82322268	.	A	T	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=453;ExcessHet=0;FS=3.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=-1.699;SOR=0.479	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	9	0	1	0
chr17	82520042	82520042	C	T	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon1:c.C154T:p.R52C	.	472	1044	6	0	0	6	0.00286533	.	.	.	610472	not_provided|Premature_ovarian_insufficiency	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001587,Human_Phenotype_Ontology:HP:0008209,Human_Phenotype_Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.63785358001	0.0044	0.00199681	0.0038	0.0015	0.0032	0	0.0018	0.0055	0.0072	0.0016	0.0031759	491	154602	rs146516291	0.0047	0.0046	0.0049	0.0045	0.0053	0.0046	0.0046	0.0052	0.0052	0.0012	0.0036	0.0030	3.166e-05	0.0018	0.0036	0.0053	0.0047	0.0021	0.0037	0.0037	0.0037	0.0037	0.0068	0.0034	0.0033	0.0057	0.0053	0.0010	0	0.0068	0.0044	0	0.0024	0	0.0054	0.0015	0.0015	0.047	0.40319	D	0.112	0.37037	T	0.999	0.77913	D	0.772	0.56930	P	0.000003	0.62929	U	0.000000	0.999843	0.49770	D	0.895	0.22405	L	1.25	0.36512	T	-3.09	0.63438	D	0.344	0.38541	-1.1021	0.03846	T	0.067	0.27468	T	10	0.008000493	0.00182	T	0.637854	0.96906	D	0.234	0.53644	.	.	0.479466957844	0.47577	0.8517850827362373	0.85140	2.50374879105	0.97662	0.817937076092	0.84712	D	0.53292	0.83869	D	0.0309919	0.55856	T	0.27297	0.86740	D	0.0352724272889134	0.02855	T	0.927407	0.73262	D	0.2886949	0.51870	0.21817738	0.46511	0.2886949	0.51870	0.21817738	0.46510	-10.567	0.77231	D	.	.	0.774	0.76121	P	.	.	4.123439	0.61646	24.4	0.99873166464470431	0.95076	0.34924	0.25182	N	AEFDBHCI	0.397623	0.47362	N	0.0443036584654081	0.43881	2.672473	-0.0157698715275802	0.39002	2.306035	0.999999967480258	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	3.51	1.46	0.21769	3.040000	0.49489	3.156000	0.36547	0.558000	0.28311	1.000000	0.71638	1.000000	0.68203	0.616000	0.31793	0.1701:0.7359:0.0:0.094	7.124	0.24641	.	.	Forkhead-associated (FHA) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.010101	0.006793	0.005882	0.000000	0.000000	0.003049	0.003788	0.05	933.43	36	chr17	82520042	.	C	T	933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.091;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.81;SOR=0.593	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,967	9	0	1	0
chr17	82582894	82582894	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon5:c.G1063A:p.V355M	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.177455073429	7.7e-05	0.000399361	0.0001	0.0002	0	0	0	0.0001	0	0.0003	0.0001229	19	154602	rs144516241	0.0001	0.0001	0.0001	0.0001	0.0018	0.0001	0.0001	0.0010	0.0007	0.0002	4.599e-05	7.691e-05	0	1.887e-05	0.0018	0.0001	0.0002	0.0003	9.195e-05	9.186e-05	5.14e-05	0.0001	0.0004	5.525e-05	4.363e-05	7.287e-05	5.087e-05	0	0	0	0	0	9.432e-05	0.0034	0.0001	0.0005	0.0004	0.002	0.72154	D	0.015	0.61642	D	0.939	0.52645	P	0.5	0.47649	P	0.000001	0.62929	D	0.056512	1	0.81001	D	2.36	0.67893	M	-3.33	0.95891	D	-2.86	0.60188	D	0.571	0.59393	0.813	0.94569	D	0.848	0.94933	D	10	0.27218765	0.44761	T	0.177455	0.85290	D	0.510	0.78971	.	.	0.765658948725	0.76351	0.5614449098166626	0.56071	0.334266525191	0.35447	0.798527061939	0.81739	T	0.459379	0.79698	T	0.0614233	0.59791	T	0.164712	0.81092	D	0.31737145781517	0.25715	T	0.943106	0.78551	D	0.43314588	0.62957	0.51842636	0.72176	0.43314588	0.62958	0.51842636	0.72176	-8.479	0.64290	D	.	.	0.566	0.67458	P	.;.;.	.;.;.	5.099620	0.85202	28.5	0.99909740378296685	0.97949	0.99408	0.95647	D	AEFBI	0.928984	0.91404	D	0.743522557746792	0.82483	7.773525	0.813138054844017	0.90691	10.52411	0.999999999999892	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	9.810000	0.98267	11.763000	0.95675	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.644	0.99572	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.000000	0.05	440.43	36	chr17	82582894	.	G	A	440.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.043;DP=358;ExcessHet=0;FS=1.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.378;SOR=0.446	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1250	9	0	1	0
chr17	82941473	82941473	T	C	exonic	TBCD	.	nonsynonymous SNV	TBCD:NM_005993:exon38:c.T3554C:p.L1185P	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, Autosomal recessive	430	1076	15	1	0	17	0.00783771	.	.	.	727615	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	.	0.0043	0.00459265	0.0083	0.0023	0.0062	0.0025	0.0176	0.0088	0.0197	0.0102	0.0052975	819	154602	rs2292969	0.0077	0.0077	0.0076	0.0077	0.0173	0.0076	0.0075	0.0162	0.0157	0.0018	0.0035	0.0029	0.0173	0.0107	0.0030	0.0076	0.0072	0.0090	0.0062	0.0062	0.0055	0.0070	0.0078	0.0059	0.0058	0.0072	0.0070	0.0018	0	0.0067	0.0035	0.0062	0.0135	0.0068	0.0078	0.0066	0.0075	0.032	0.44694	D	0.002	0.92824	D	0.158	0.28271	B	0.067	0.27542	B	.	.	.	.	1	0.81001	D	2.945	0.84822	M	1.96	0.27331	T	-3.56	0.68880	D	0.31	0.40063	-0.4966	0.68772	T	0.270	0.64109	T	8	0.0075756013	0.00172	T	.	.	.	0.174	0.44019	.	.	0.657190473102	0.65432	0.5342911152067392	0.53354	0.552243147408	0.52039	0.600276112556	0.52943	T	0.195792	0.55198	T	-0.328184	0.06249	T	-0.229254	0.51844	T	0.0382744578565332	0.03381	T	0.760024	0.42899	T	0.5905107	0.72179	0.55882275	0.74477	0.5963501	0.72496	0.55882275	0.74477	-3.857	0.21659	T	.	.	0.082	0.14660	B	.;.;.	.;.;.	2.597518	0.33711	19.42	0.99323149992308701	0.59469	0.88904	0.49062	D	AEFDGBI	0.790059	0.71906	D	0.289027231533402	0.55591	3.72321	0.310240003057404	0.56139	3.777063	0.399914729279491	0.20121	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.96	4.96	0.65153	4.081000	0.57350	3.396000	0.38099	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:0.0:0.0:1.0	11.332	0.48716	.	.	.;.;.	.	.	.	.	rs2292969	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004541	0.005051	0.001359	0.008824	0.000000	0.000000	0.006098	0.003817	0.05	1359.43	44	chr17	82941473	.	T	C	1359.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.493;DP=464;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.056;SOR=0.661	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	9	0	1	0
chr17	83094385	83094385	A	G	exonic	METRNL	.	nonsynonymous SNV	METRNL:NM_001004431:exon4:c.A746G:p.H249R,METRNL:NM_001363853:exon5:c.A500G:p.H167R	.	428	1081	13	0	0	13	0.00597701	.	.	.	704524	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.069	.	0.0071	0.00219649	0.0076	0.0020	0.0036	0	0.0076	0.0118	0.0034	0.0014	0.0077683	1201	154602	rs142120953	0.0091	0.0091	0.0094	0.0089	0.0107	0.0090	0.0089	0.0105	0.0104	0.0020	0.0041	0.0086	2.525e-05	0.0062	0.0078	0.0107	0.0086	0.0013	0.0066	0.0066	0.0070	0.0061	0.0107	0.0062	0.0061	0.0101	0.0098	0.0024	0.0033	0.0040	0.0115	0	0.0040	0.0136	0.0107	0.0047	0.0023	0.864	0.02645	T	1.0	0.07946	T	0.0	0.02946	B	0.001	0.04355	B	0.705393	0.06227	U	1.184600	0.998019	0.22395	N	0.46	0.12951	N	1.63	0.28002	T	0.11	0.05706	N	0.033	0.02759	-1.0305	0.20292	T	0.016	0.06329	T	9	0.005649507	0.00125	T	.	.	.	0.069	0.20116	.	.	0.110392049598	0.10638	0.43763541918877424	0.43680	0.660348290048	0.58863	0.448381245136	0.31722	T	0.009953	0.09029	T	-0.673004	0.00053	T	-0.728469	0.04397	T	0.00632219274710579	0.00070	T	0.443756	0.12347	T	0.030983087	0.02856	0.0344135	0.02503	0.030983087	0.02856	0.0344135	0.02502	-2.128	0.03706	T	.	.	0.058	0.06896	B	.;.;.;.	.;.;.;.	0.492847	0.08619	5.389	0.24717151852336042	0.01106	0.23175	0.21990	N	AEFBI	0.052061	0.09257	N	-1.26250315225431	0.04137	0.1861455	-1.23862037219702	0.05301	0.2522801	0.994498627880659	0.33662	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.7	-5.4	0.02449	1.341000	0.33512	2.127000	0.30755	-0.089000	0.16174	0.889000	0.31176	1.000000	0.68203	0.031000	0.13245	0.2633:0.1543:0.2778:0.3047	0.288	0.00237	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005045	0.000000	0.008174	0.000000	0.000000	0.000000	0.009202	0.000000	0.05	1540.43	33	chr17	83094385	.	A	G	1540.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.958;DP=480;ExcessHet=0;FS=2.808;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=-0.589;SOR=0.49	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1121	9	0	1	0
chr18	2732448	2732448	G	A	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3232A:p.E1078K	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0252814111583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.046	0.49120	D	0.919	0.50927	P	0.395	0.44317	B	0.000043	0.53742	D	0.122583	0.960458	0.38181	D	1.175	0.29870	L	1.86	0.24285	T	-1.2	0.30555	N	0.386	0.42737	-1.1062	0.03417	T	0.063	0.26244	T	10	0.31736785	0.49147	T	0.025281	0.48255	D	0.179	0.44899	0.395	0.42099	0.171220215726	0.16700	0.5070269732976612	0.50624	0.249247192868	0.27497	0.647655010223	0.59653	T	0.118561	0.43946	T	0.0465045	0.57891	T	-0.170976	0.57354	T	0.877296686172485	0.52719	D	0.840116	0.51512	T	0.23279612	0.46073	0.16777822	0.38688	0.23279612	0.46073	0.16777822	0.38688	-6.096	0.47076	T	0.16198928617406946	0.19868	0.217	0.44720	B	.	.	3.509325	0.49139	22.7	0.99874730886920349	0.95160	0.90737	0.52166	D	AEFGBI	0.383586	0.46503	N	0.400945318371357	0.61476	4.349073	0.476679891659967	0.66448	4.953359	0.999639206483282	0.41205	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.27	5.27	0.73797	5.240000	0.65201	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.885	0.92343	561	0.71236	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	59.5	76	chr18	2732448	.	G	A	59.5	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.884;DP=519;ExcessHet=0;FS=64.077;InbreedingCoeff=-0.1061;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=0.298;SOR=6.593	GT:AD:DP:GQ:PL	0/0:38,0:38:66:0,66,893	8	0	1	1
chr18	2847889	2847889	A	G	exonic	EMILIN2	.	nonsynonymous SNV	EMILIN2:NM_032048:exon2:c.A215G:p.Y72C	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.148600782301	.	0.00119808	0.0009	0	0	0	0	1.521e-05	0	0.0067	0.0007633	118	154602	rs575376753	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0052	0	0	0	0	0	0.0004	3.598e-06	0.0005	0.0058	0.0002	0.0002	7.714e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	2.408e-05	0	0	0	0	0	0	0	0	0.0060	0.022	0.48642	D	0.009	0.66756	D	0.999	0.77913	D	0.962	0.70672	D	0.000028	0.55875	D	0.000000	0.996104	0.43019	D	2.685	0.78553	M	0.89	0.45636	T	-5.66	0.87063	D	0.775	0.77226	-0.6190	0.64030	T	0.251	0.62073	T	10	0.01813358	0.00392	T	0.148601	0.83050	D	0.328	0.65026	0.779	0.90388	0.597594485103	0.59439	0.6926829095650934	0.69208	0.520452191899	0.49844	0.633067429066	0.57581	T	0.299502	0.67203	T	-0.293899	0.09249	T	-0.192052	0.55397	T	0.196870964861962	0.20242	T	0.812119	0.46368	T	0.6148624	0.73489	0.66490734	0.80354	0.6148624	0.73490	0.66490734	0.80355	-9.411	0.70304	D	.	.	0.569	0.67577	P	.	.	4.930089	0.81271	27.5	0.99739096400838489	0.83337	0.90167	0.51132	D	ALL	0.738973	0.68368	D	0.555838050255534	0.70439	5.501581	0.50153971927306	0.68096	5.172883	0.999999905545182	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	5.46	4.28	0.50183	4.640000	0.61065	8.889000	0.78353	0.748000	0.86766	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8595:0.1405:0.0:0.0	12.430	0.54905	911	0.21964	EMI domain|EMI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	996.43	33	chr18	2847889	.	A	G	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.673;DP=383;ExcessHet=0;FS=5.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.12;SOR=0.247	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	9	0	1	0
chr18	2937817	2937817	G	A	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.C1043T:p.P348L,LPIN2:NM_001375809:exon7:c.C1043T:p.P348L,LPIN2:NM_014646:exon7:c.C1043T:p.P348L	Majeed syndrome	0	1501	21	0	0	21	0.00694674	.	.	YES	34370	not_provided|Autoinflammatory_syndrome|Majeed_syndrome	MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.471	0.0472440006302	0.0005	0.00119808	0.0015	9.61e-05	0.0005	0	0.0002	0.0013	0.0055	0.0050	0.0013713	212	154602	rs34676691	0.0010	0.0010	0.0008	0.0012	0.0071	0.0010	0.0010	0.0054	0.0048	8.961e-05	0.0006	0.0008	2.519e-05	5.616e-05	0.0071	0.0008	0.0010	0.0047	0.0007	0.0007	0.0008	0.0007	0.0039	0.0006	0.0006	0.0026	0.0021	0.0001	0	0.0005	0.0003	0	0	0.0102	0.0011	0.0024	0.0039	0.041	0.41915	D	0.191	0.28391	T	0.0	0.02946	B	0.001	0.04355	B	0.018035	0.27579	N	0.468640	1	0.08975	N	1.155	0.29575	L	-1.37	0.80214	T	-2.84	0.59873	D	0.163	0.17140	-0.7457	0.58159	T	0.341	0.70705	T	10	0.004683107	0.00098	T	0.047244	0.62833	D	0.471	0.76487	.	.	0.85556397381	0.85417	0.17955191147053634	0.17874	0.241005714091	0.26633	0.281983017921	0.07770	T	0.110259	0.42481	T	-0.201526	0.20586	T	-0.0619887	0.66193	T	0.0102228690827515	0.00139	T	0.730127	0.34567	T	0.05918796	0.11998	0.071224615	0.15228	0.056861125	0.11242	0.0612654	0.11800	-3.842	0.21433	T	0.103693821679052	0.08027	0.065	0.02012	B	.	.	2.156294	0.27469	17.47	0.69125950093582156	0.08873	0.66719	0.33176	D	AEFBI	0.079139	0.15979	N	-0.473775513693229	0.22942	1.228571	-0.419826692497712	0.24416	1.336864	0.997207291581435	0.35373	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.74	2.87	0.32523	2.408000	0.44227	4.225000	0.42617	0.676000	0.76740	0.191000	0.24200	0.998000	0.33993	0.745000	0.35611	0.0715:0.2706:0.6579:0.0	9.471	0.38007	741	0.52966	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.005435	0.000000	0.000000	0.008621	0.015244	0.011364	0.05	1353.43	35	chr18	2937817	.	G	A	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.17;DP=418;ExcessHet=0;FS=1.611;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.01;SOR=0.544	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,958	9	0	1	0
chr18	3067300	3067300	C	T	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_019856:exon37:c.G4732A:p.A1578T,MYOM1:NM_003803:exon38:c.G5020A:p.A1674T	.	.	.	.	.	.	.	.	.	.	.	2432574	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00786888402396	.	.	9.725e-06	0	0	0	0	1.744e-05	0	0	6.5e-06	1	154602	rs761995377	9.605e-06	1.026e-05	9.554e-06	9.658e-06	2.998e-05	5.57e-06	4.36e-06	6.53e-06	5.03e-06	2.998e-05	0	0	0	0	0	1.17e-05	0	0	6.57e-06	6.566e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.238	0.17821	T	0.507	0.11479	T	0.002	0.12183	B	0.001	0.06944	B	0.254121	0.03666	N	1.505790	1	0.08975	N	1.01	0.25309	L	0.98	0.47477	T	-0.47	0.17834	N	0.058	0.02964	-1.0505	0.14258	T	0.085	0.33185	T	10	0.060941756	0.07566	T	0.007869	0.20877	T	0.060	0.17295	0.23	0.15705	0.107399877778	0.10242	0.39910162728733783	0.39825	0.134347377349	0.15131	0.227364003658	0.01779	T	0.022761	0.17490	T	-0.384269	0.02928	T	-0.789752	0.02171	T	0.0578441768884659	0.06824	T	0.653935	0.26417	T	0.03268784	0.03342	0.047353525	0.06801	0.03268784	0.03342	0.047353525	0.06801	-5.372	0.42110	T	.	.	0.191	0.46585	B	.;.;.	.;.;.	-0.016653	0.04170	1.005	0.93115447722689726	0.22749	0.08415	0.14347	N	AEFDBCIJ	0.227062	0.35092	N	-1.26708683162456	0.04078	0.1834008	-1.38816250930932	0.03377	0.1574178	0.999941008848651	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.23	-6.19	0.01900	-1.680000	0.02040	-6.374000	0.01416	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1826:0.1476:0.4461:0.2238	3.148	0.06091	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1154.43	93	chr18	3067300	.	C	T	1154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.33;DP=425;ExcessHet=0;FS=0.846;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=1.38;SOR=0.524	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr18	3089561	3089561	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_019856:exon27:c.C3757T:p.R1253W,MYOM1:NM_003803:exon28:c.C4045T:p.R1349W	.	.	.	.	.	.	.	.	.	.	.	468819	Hypertrophic_cardiomyopathy|not_specified	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.443	0.0550707449951	.	.	7.809e-05	0	0	0.0007	0	1.575e-05	0	0.0001	6.47e-05	10	154602	rs762476268	3.709e-05	4.446e-05	3.416e-05	4.004e-05	0.0003	2.905e-05	2.602e-05	0.0001	0.0001	0	4.512e-05	0	0.0003	0	0	2.975e-05	8.313e-05	4.696e-05	8.543e-05	8.534e-05	0.0001	5.376e-05	0.0010	4.958e-05	3.963e-05	0.0004	0.0002	2.409e-05	0.0044	0	0	0.0010	0	0	2.941e-05	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	D	0.047503	0.999338	0.46701	D	2.01	0.54746	M	0.8	0.58897	T	-7.27	0.94404	D	0.42	0.55626	-0.2840	0.75431	T	0.312	0.68184	T	10	0.13920215	0.26469	T	0.055071	0.66098	D	0.443	0.74588	.	.	0.811525194345	0.80975	0.7612914839675	0.76077	0.298367429644	0.32220	0.627437114716	0.56782	T	0.41142	0.76587	T	-0.0933138	0.37530	T	-0.0268771	0.68575	D	0.579362502467047	0.35594	D	0.990301	0.96997	D	0.9086534	0.92169	0.7654029	0.86142	0.9086534	0.92170	0.7654029	0.86143	-11.792	0.85811	D	0.6407532412734096	0.71143	0.521	0.65533	A	.;.;.	.;.;.	3.690276	0.52580	23.3	0.99922325226235553	0.98852	0.96431	0.69105	D	AEFI	0.856941	0.77424	D	0.433544290313777	0.63277	4.558295	0.329724016605235	0.57294	3.894562	0.2027363714107	0.18144	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.97	0.191	0.14411	2.479000	0.44857	0.548000	0.19395	0.618000	0.50648	1.000000	0.71638	0.988000	0.31051	0.994000	0.71098	0.0:0.0:0.2049:0.7951	16.889	0.85949	788	0.46569	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	267.43	38	chr18	3089561	.	G	A	267.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.029;DP=264;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.1;ReadPosRankSum=-0.656;SOR=0.602	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,455	9	0	1	0
chr18	3188947	3188947	G	A	exonic	MYOM1	.	nonsynonymous SNV	MYOM1:NM_003803:exon4:c.C572T:p.T191M,MYOM1:NM_019856:exon4:c.C572T:p.T191M	.	428	1093	1	0	0	1	0.000457247	.	.	.	532358	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.072	0.00264655259875	0.0002	0.000599042	0.0006	0.0008	8.64e-05	0	0	0.0001	0.0033	0.0035	0.0005175	80	154602	rs191505313	0.0003	0.0003	0.0002	0.0004	0.0038	0.0003	0.0003	0.0035	0.0034	0.0002	0.0001	0	5.1e-05	1.879e-05	0.0005	7.26e-05	0.0002	0.0038	0.0003	0.0003	0.0002	0.0003	0.0036	0.0002	0.0002	0.0023	0.0019	0.0004	0	0.0001	0	0.0002	0	0	8.843e-05	0	0.0036	0.013	0.53900	D	0.097	0.40747	T	0.343	0.33512	B	0.099	0.30579	B	0.460697	0.12395	U	0.487974	1	0.08975	N	0	0.06538	N	0.9	0.49919	T	-0.01	0.07882	N	0.136	0.13341	-1.0506	0.14230	T	0.058	0.24242	T	10	0.0052524507	0.00115	T	0.002647	0.05406	T	0.072	0.21020	.	.	0.342865806769	0.33904	0.1413166893672989	0.14054	0.143490453161	0.16199	0.268105596304	0.05895	T	0.015016	0.12674	T	-0.489985	0.00650	T	-0.478711	0.24583	T	0.0143017170076648	0.00285	T	0.675032	0.28847	T	0.01710882	0.00246	0.03765141	0.03462	0.016993567	0.00237	0.039139763	0.03939	-8.618	0.65438	D	.	.	0.283	0.51959	B	.;.;.	.;.;.	1.330771	0.17359	13.12	0.8479877876880999	0.15504	0.01576	0.05139	N	AEFGBI	0.044316	0.07114	N	-0.983568528535678	0.08954	0.4218599	-1.05111903304481	0.08684	0.4281748	0.969021436352558	0.29096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	1.5	1.5	0.22029	-0.160000	0.10029	-1.786000	0.04729	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	6.413	0.20905	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	3476.43	54	chr18	3188947	.	G	A	3476.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=3.4;SOR=0.665	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr18	5419733	5419733	G	A	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281533:exon12:c.C1538T:p.S513L,EPB41L3:NM_001281534:exon12:c.C1538T:p.S513L,EPB41L3:NM_001330557:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384682:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384683:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384684:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384685:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384686:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384687:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384688:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384689:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384690:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384691:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384692:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384693:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384694:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384695:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384696:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384697:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384698:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384699:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384700:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384701:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384702:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384703:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384704:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384705:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384706:exon12:c.C1157T:p.S386L,EPB41L3:NM_012307:exon12:c.C1484T:p.S495L,EPB41L3:NM_001281535:exon14:c.C1211T:p.S404L	.	415	1105	2	0	0	2	0.000904159	.	.	.	3242202	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0559610711732	.	.	9.886e-05	9.61e-05	0	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs769159490	9.372e-05	9.371e-05	9.801e-05	8.938e-05	0.0014	8.092e-05	7.584e-05	0.0007	0.0005	0	2.236e-05	0	0	0	0.0014	9.083e-05	0.0002	0.0002	8.537e-05	8.53e-05	0.0001	6.716e-05	0.0004	4.954e-05	3.96e-05	7.296e-05	3.031e-05	7.217e-05	0	6.538e-05	0	0	0	0	7.351e-05	0.0009	0.0004	0.144	0.25255	T	0.371	0.27591	T	0.242	0.30930	B	0.022	0.19653	B	0.655275	0.10476	N	0.832580	0.997123	0.43648	D	1.59	0.40313	L	-1.63	0.82806	D	-1.05	0.35399	N	0.163	0.20395	0.364	0.88555	D	0.793	0.92973	D	10	0.110667974	0.20693	T	0.055961	0.66430	D	0.165	0.42395	.	.	0.915881041614	0.91503	0.19745220438870198	0.19662	0.139515389065	0.15724	0.332229316235	0.15271	T	0.177955	0.52843	T	-0.151785	0.28031	T	-0.163657	0.58022	T	0.0299825128167868	0.01987	T	0.921108	0.79443	D	0.028340364	0.02157	0.04473158	0.05862	0.028340364	0.02156	0.04473158	0.05862	-11.748	0.85122	D	.	.	0.071	0.19154	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.081525	0.60724	24.3	0.99483109656543145	0.67014	0.72001	0.35259	D	AEFBI	0.604491	0.59557	D	-0.3728509769995	0.26440	1.443034	-0.284790810522542	0.28599	1.595829	0.999950016724267	0.48110	0.706548	0.73137	0	0.563428	0.19063	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.61	3.81	0.43020	4.988000	0.63592	6.587000	0.56014	0.676000	0.76740	0.833000	0.30177	0.998000	0.33993	0.794000	0.37478	0.1398:0.0:0.8602:0.0	12.059	0.52850	828	0.39726	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	1413.43	37	chr18	5419733	.	G	A	1413.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.123;DP=344;ExcessHet=0;FS=5.797;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=-0.746;SOR=0.249	GT:AD:DP:GQ:PL	1/1:0,29:29:87:914,87,0	8	1	1	0
chr18	6948454	6948454	C	T	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.G8659A:p.A2887T	Poretti-Boltshauser syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00499135885665	.	.	8.24e-05	0	0	0.0006	0	2.997e-05	0	0.0002	7.12e-05	11	154602	rs747612750	2.599e-05	2.599e-05	2.45e-05	2.75e-05	0.0003	1.932e-05	1.692e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0003	0	0	1.079e-05	3.311e-05	0.0001	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.832e-05	2.859e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.208	0.19782	T	0.622	0.07394	T	0.019	0.17989	B	0.004	0.10090	B	0.119665	0.19065	N	0.507528	1	0.08975	N	1.175	0.29870	L	2.29	0.17113	T	-1.1	0.28497	N	0.11	0.09631	-1.0005	0.29774	T	0.031	0.13242	T	10	0.02549231	0.00741	T	0.004991	0.12598	T	0.009	0.00846	0.43	0.47843	0.0986583533028	0.09354	0.42138855929448016	0.42054	0.104874384788	0.11861	0.240239679813	0.02812	T	0.042492	0.26201	T	-0.605749	0.00134	T	-0.74486	0.03689	T	0.011347468723731	0.00168	T	0.670133	0.27879	T	0.018464042	0.00368	0.03448926	0.02525	0.018464042	0.00367	0.03448926	0.02524	-4.449	0.30216	T	0.08709620646588638	0.05081	0.075	0.05360	B	.	.	0.308330	0.06837	3.363	0.95578669671416361	0.27282	0.07000	0.13026	N	AEFDGBI	0.064590	0.12550	N	-1.03209011533866	0.07943	0.3707654	-1.03932772981758	0.08930	0.4415856	0.990406128005332	0.32142	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.7	1.42	0.21524	0.286000	0.18660	-0.089000	0.12081	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.1146:0.6243:0.0:0.2611	7.658	0.27553	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3137.43	44	chr18	6948454	.	C	T	3137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=579;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.358;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1271	9	0	1	0
chr18	7033062	7033062	A	-	exonic	LAMA1	.	frameshift deletion	LAMA1:NM_005559:exon15:c.2085delT:p.N696Mfs*102	Poretti-Boltshauser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2693.39	35	chr18	7033061	.	TA	T	2693.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=526;ExcessHet=0;FS=6.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.43;SOR=1.233	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	9	0	1	0
chr18	7037642	7037642	G	A	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon12:c.C1673T:p.A558V	Poretti-Boltshauser syndrome, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	727799	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.005	0.00297339597076	0.0045	0.00179712	0.0037	0.0020	0.0020	0	0.0008	0.0058	0.0022	0.0006	0.0040814	631	154602	rs143997842	0.0060	0.0060	0.0062	0.0059	0.0073	0.0059	0.0059	0.0072	0.0071	0.0017	0.0021	0.0012	0	0.0023	0.0009	0.0073	0.0056	0.0008	0.0034	0.0034	0.0039	0.0029	0.0058	0.0032	0.0031	0.0053	0.0051	0.0019	0	0.0012	0.0017	0	0.0008	0	0.0058	0.0028	0.0015	0.263	0.16412	T	0.285	0.21343	T	0.004	0.12183	B	0.002	0.06944	B	0.678899	0.06080	N	1.187530	1	0.08975	N	0.6	0.15550	N	2.18	0.18875	T	-1.2	0.30555	N	0.06	0.03175	-0.9808	0.34817	T	0.011	0.04274	T	10	0.0038349926	0.00072	T	0.002973	0.06339	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.2621892590172665	0.26131	0.107730605471	0.12152	0.244025737047	0.03165	T	0.046069	0.27314	T	-0.698991	0.00037	T	-0.770289	0.02758	T	0.0013587098851226	0.00014	T	0.485151	0.14792	T	0.019163352	0.00443	0.040829208	0.04502	0.019163352	0.00442	0.040829208	0.04502	-2.921	0.09355	T	.	.	0.072	0.04396	B	.	.	-0.032086	0.04066	0.946	0.94307563734160238	0.24622	0.04224	0.09741	N	AEFBI	0.062944	0.12132	N	-1.28727501896598	0.03828	0.1716946	-1.34773399438146	0.03833	0.1795877	0.999996033034349	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.53	-6.03	0.02001	-1.850000	0.01763	-1.961000	0.04429	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.383:0.0:0.2252:0.3918	5.922	0.18327	900	0.24599	Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1530.43	38	chr18	7037642	.	G	A	1530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.954;DP=513;ExcessHet=0;FS=5.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-2.629;SOR=0.453	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr18	8085816	8085816	G	A	exonic	PTPRM	.	nonsynonymous SNV	PTPRM:NM_001378142:exon6:c.G1058A:p.S353N,PTPRM:NM_001378143:exon6:c.G1058A:p.S353N,PTPRM:NM_001378144:exon6:c.G1058A:p.S353N,PTPRM:NM_001378145:exon6:c.G1058A:p.S353N,PTPRM:NM_001378146:exon6:c.G1058A:p.S353N,PTPRM:NM_001378147:exon6:c.G1058A:p.S353N,PTPRM:NM_001105244:exon10:c.G1697A:p.S566N,PTPRM:NM_002845:exon10:c.G1697A:p.S566N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0178076974896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1052122056	6.844e-07	6.84e-07	1.362e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.14945	T	0.072	0.43344	T	0.918	0.50838	P	0.711	0.54536	P	0.000000	0.84330	D	0.078794	0.999989	0.54805	D	2.375	0.68372	M	0.41	0.57100	T	-1.03	0.27052	N	0.874	0.87157	-0.6785	0.61442	T	0.323	0.69221	T	10	0.72675896	0.74025	D	0.017808	0.39652	T	0.258	0.56959	0.525	0.62967	0.646366940051	0.64343	0.5413807467112084	0.54063	0.526113108519	0.50245	0.834138214588	0.87197	D	0.097686	0.40075	T	-0.00867465	0.50452	T	-0.250237	0.49793	T	0.970704257488251	0.69046	D	0.975436	0.91320	D	0.49782422	0.66967	0.29391807	0.55421	0.49782422	0.66968	0.29391807	0.55420	-10.898	0.79926	D	.	.	0.473	0.64311	A	.;.;.	.;.;.	5.092370	0.85040	28.5	0.99686310993973748	0.79641	0.98409	0.82480	D	AEFGBI	0.940321	0.94212	D	0.73800863941768	0.82122	7.685303	0.771504567377732	0.87752	9.332068	0.999999999978072	0.74766	0.693126	0.56070	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	8.002000	0.88029	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	20.541	0.99263	763	0.50172	.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	69.43	35	chr18	8085816	.	G	A	69.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.355;DP=399;ExcessHet=0;FS=50.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.964;SOR=5.993	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	9	0	1	0
chr18	8798148	8798148	G	C	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon8:c.G3250C:p.G1084R,MTCL1:NM_001378207:exon8:c.G3250C:p.G1084R,MTCL1:NM_001378206:exon9:c.G3373C:p.G1125R,MTCL1:NM_015210:exon10:c.G2293C:p.G765R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.0120197201985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23360	T	0.198	0.30926	T	0.002	0.09854	B	0.004	0.10090	B	0.529970	0.05252	N	1.263710	1	0.08975	N	1.355	0.33814	L	0.98	0.42122	T	0.05	0.06369	N	0.194	0.24883	-1.0713	0.09129	T	0.050	0.21143	T	10	0.058656007	0.06929	T	0.01202	0.30212	T	0.019	0.03383	.	.	0.136095386433	0.13204	0.019041360833795373	0.01858	0.130242658533	0.14695	0.261842608452	0.05112	T	0.024864	0.18706	T	-0.231649	0.16431	T	-0.570524	0.15401	T	0.0938409338886357	0.11666	T	0.749925	0.37107	T	0.03434858	0.03837	0.036096565	0.02989	0.03434858	0.03837	0.036096565	0.02988	-3.892	0.23774	T	.	.	0.130	0.28492	B	.;.;.;.;.	.;.;.;.;.	0.382915	0.07547	4.199	0.53638328546977176	0.04979	0.14580	0.18478	N	AEFGBI	0.098332	0.19816	N	-1.53370885454679	0.01632	0.07136795	-1.57006069004703	0.01841	0.083892	0.999933773517828	0.46732	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	4.85	-1.64	0.07874	0.570000	0.23357	0.009000	0.13411	-0.782000	0.03316	0.002000	0.15269	0.000000	0.08366	0.010000	0.09038	0.2733:0.1061:0.5123:0.1083	3.451	0.07066	872	0.31118	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	595.43	40	chr18	8798148	.	G	C	595.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.428;DP=411;ExcessHet=0;FS=3.191;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.73;ReadPosRankSum=-1.207;SOR=1.088	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr18	9254360	9254362	GAT	-	exonic	ANKRD12	.	nonframeshift deletion	ANKRD12:NM_001083625:exon8:c.1024_1026del:p.D345del,ANKRD12:NM_001204056:exon8:c.1024_1026del:p.D345del,ANKRD12:NM_015208:exon9:c.1093_1095del:p.D368del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.251e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs767111396	4.796e-06	4.31e-05	6.816e-06	2.755e-06	2.528e-05	2e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.528e-05	0	0	4.5e-06	0	1.169e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095477	0.310606	0.027027	0.022581	0.214286	0.061224	0.149635	0.072072	0.05	2341.39	33	chr18	9254359	.	AGAT	A	2341.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.493;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.87;ReadPosRankSum=0.076;SOR=0.671	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A,ANKRD12:NM_001204056:exon8:c.A2137G:p.T713A,ANKRD12:NM_015208:exon9:c.A2206G:p.T736A	.	440	1057	25	0	0	25	0.0116877	.	.	.	3547058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010574	0.000000	0.013587	0.017544	0.050000	0.000000	0.006098	0.015152	0.05	550.43	33	chr18	9255473	.	A	G	550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=352;ExcessHet=0;FS=2.485;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-1.06;SOR=0.561	GT:AD:DP:GQ:PL	0/0:29,0:29:87:0,87,870	9	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	53060.1	364	chr18	9887397	.	C	*	53060.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.52;DP=4775;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=59.51;MQRankSum=-0.379;QD=15.12;ReadPosRankSum=-0.189;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:220,0:406:99:.:.:4336,5432,14399:.	4	0	6	0
chr18	10708372	10708372	T	C	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_001378183:exon40:c.A5491G:p.I1831V	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14222291	0.27016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439156	0.12095	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	1.151794	0.15400	11.82	0.70872949506404204	0.09439	0.77982	0.38409	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.031128271045097	0.13984	0.106106	0.02776	0	0.105846	0.03286	0	0.078618	0.02440	0	0.057018	0.00518	0	0.462877	0.38843	5.79	2.16	0.26663	0.405000	0.20738	2.530000	0.33163	-0.201000	0.08892	0.998000	0.41325	1.000000	0.68203	0.962000	0.52141	0.1897:0.0686:0.3727:0.369	3.194	0.06232	827	0.39843	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	37.79	.	chr18	10708372	.	T	C	37.79	.	AC=2;AF=0.167;AN=12;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=18.9;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	5	1	0	4
chr18	10773418	10773418	T	A	exonic	PIEZO2	.	nonsynonymous SNV	PIEZO2:NM_022068:exon18:c.A2704T:p.T902S,PIEZO2:NM_001378183:exon20:c.A2779T:p.T927S	Arthrogryposis, distal, type 3, Autosomal dominant;Arthrogryposis, distal, type 5, Autosomal dominant;Arthrogryposis, distal, with impaired proprioception and touch, Autosomal recessive	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00803099945335	.	.	0.0003	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs765555471	4.404e-05	4.241e-05	1.996e-05	6.877e-05	0.0006	3.494e-05	3.167e-05	0.0005	0.0004	0	0	0	0	0	0.0005	6.488e-06	1.726e-05	0.0006	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	0	0	0.0002	0.776	0.03326	T	0.658	0.06836	T	0.0	0.02946	B	0.001	0.04355	B	0.013887	0.01376	U	7.894050	0.999998	0.08975	N	1.555	0.39373	L	1.0	0.41392	T	-0.69	0.19720	N	0.289	0.32701	-1.0578	0.12311	T	0.075	0.30303	T	10	0.015678495	0.00329	T	0.008031	0.21290	T	0.053	0.14996	0.261	0.20473	0.043077524339	0.03247	0.08573925928855586	0.08507	0.271055600688	0.29627	0.413542240858	0.26947	T	0.003961	0.03373	T	-0.492164	0.00632	T	-0.590702	0.13604	T	0.017641257298882	0.00496	T	0.455254	0.13467	T	0.034007113	0.03734	0.03567973	0.02867	0.034007113	0.03734	0.03567973	0.02866	-2.583	0.06450	T	0.08065350969727716	0.04090	0.105	0.19438	B	.;.;.;.	.;.;.;.	0.609843	0.09781	6.549	0.81053975942947143	0.13497	0.30682	0.24145	N	AEFBI	0.144554	0.26755	N	-0.88360875434137	0.11232	0.5409388	-0.812680402127601	0.14189	0.7400814	0.999198082266831	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.5	3.07	0.34476	0.135000	0.15775	-0.437000	0.09184	0.605000	0.46263	0.005000	0.17040	0.004000	0.18990	0.930000	0.46718	0.1273:0.0698:0.0:0.8029	7.481	0.26573	790	0.46189	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1065.43	33	chr18	10773418	.	T	A	1065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.54;DP=389;ExcessHet=0;FS=1.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.857;SOR=0.464	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1072	9	0	1	0
chr18	12699902	12699902	T	C	exonic	CEP76	.	nonsynonymous SNV	CEP76:NM_001271989:exon3:c.A223G:p.S75G,CEP76:NM_024899:exon3:c.A223G:p.S75G	.	452	1068	2	0	0	2	0.000935454	.	.	.	4120373	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.0251757255277	.	.	4.088e-05	0	0	0	0	8.015e-05	0	0	3.88e-05	6	154602	rs752510161	2.306e-05	3.078e-05	2.083e-05	2.531e-05	0.0016	1.644e-05	1.447e-05	0.0009	0.0006	0	0	0	0	0	0.0016	1.914e-05	1.69e-05	2.49e-05	2.635e-05	2.629e-05	1.287e-05	4.049e-05	6.569e-05	8.16e-06	5.15e-06	.	.	0	0	6.569e-05	0	0	0	0	1.472e-05	0.0010	0	0.416	0.12961	T	0.389	0.15554	T	0.001	0.09854	B	0.0	0.10090	B	0.629813	0.05805	N	1.158660	1	0.08975	N	-0.345	0.03330	N	-1.29	0.79571	T	-0.15	0.20358	N	0.111	0.10056	-0.8684	0.50650	T	0.248	0.61704	T	10	0.045547605	0.03638	T	0.025176	0.48158	D	0.206	0.49396	.	.	0.676464442291	0.67371	0.14637729665394433	0.14559	0.424776390629	0.42897	0.273124098778	0.06552	T	0.025536	0.19075	T	-0.234503	0.16057	T	-0.457173	0.26907	T	0.0278832448154101	0.01671	T	0.531747	0.17685	T	0.07593309	0.17142	0.047085322	0.06705	0.07593309	0.17141	0.047085322	0.06704	-3.53	0.22362	T	0.088944710104166	0.05384	0.064	0.02313	B	.;.	.;.	2.486910	0.32083	18.93	0.777707301609318	0.12015	0.05865	0.11811	N	AEFDBHCI	0.121027	0.23549	N	-0.517336484371236	0.21519	1.142618	-0.339868836275048	0.26825	1.484204	0.999999920500012	0.74766	0.643511	0.44296	0	0.662677	0.63036	0	0.65145	0.50148	0	0.631631	0.49550	0	.	.	5.79	3.4	0.38031	1.300000	0.33040	4.237000	0.42685	0.665000	0.62972	0.004000	0.16614	0.991000	0.31484	0.995000	0.73285	0.0:0.0859:0.1671:0.7471	6.728	0.22557	619	0.66147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001362	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	385.51	29	chr18	12699902	.	T	C	385.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.106;DP=221;ExcessHet=0;FS=6.273;InbreedingCoeff=-0.0589;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-0.355;SOR=2.179	GT:AD:DP:GQ:PL	0/0:11,0:11:30:0,30,450	9	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	461.14	36	chr18	12814235	.	C	T	461.14	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-1.277;DP=363;ExcessHet=4.5998;FS=156.993;InbreedingCoeff=-0.5318;MLEAC=7;MLEAF=0.389;MQ=59.96;MQRankSum=0;QD=1.97;ReadPosRankSum=0.222;SOR=8.425	GT:AD:DP:GQ:PL	0/1:18,10:28:58:58,0,285	3	0	6	1
chr18	13038493	13038493	A	G	exonic	CEP192	.	nonsynonymous SNV	CEP192:NM_032142:exon13:c.A1723G:p.S575G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0122542630251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.22	0.07024	T	-2.05	0.47008	N	0.359	0.40063	-1.1592	0.00776	T	0.039	0.16677	T	9	0.36364126	0.52929	T	0.012254	0.30654	T	0.146	0.38789	0.272	0.22210	0.608522253762	0.60537	0.3917286154356826	0.39087	0.407279978005	0.41592	0.411654949188	0.26685	T	.	.	.	-0.17705	0.24176	T	-0.492096	0.23171	T	0.948224744946995	0.62849	D	0.757524	0.38090	T	0.3152734	0.54239	0.45974377	0.68618	0.3152734	0.54239	0.45974377	0.68618	-4.011	0.23968	T	.	.	0.193	0.41249	B	.	.	4.218363	0.63779	24.6	0.99847477494363823	0.92750	0.97138	0.72912	D	AEFBI	0.758444	0.69709	D	0.572559862292926	0.71465	5.655126	0.606092758664596	0.75383	6.300584	0.999999923883597	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	6.608000	0.74043	7.815000	0.69558	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	14.506	0.67338	492	0.76569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1846.43	35	chr18	13038493	.	A	G	1846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.49;DP=529;ExcessHet=0;FS=2.427;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.05;ReadPosRankSum=-1.374;SOR=0.698	GT:AD:DP:GQ:PL	0/1:116,88:204:99:1858,0,2536	9	0	1	0
chr18	14105212	14105213	CT	-	exonic	ZNF519	.	frameshift deletion	ZNF519:NM_145287:exon3:c.1327_1328del:p.R443Gfs*20	.	402	1098	20	1	1	23	0.00991885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8e-05	.	8.457e-05	0	0.0002	0.0001	0	9.314e-05	0	6.137e-05	6.47e-05	10	154602	rs763591495	6.19e-05	6.184e-05	5.602e-05	6.783e-05	0.0044	5.101e-05	4.757e-05	0.0030	0.0026	0	4.57e-05	0	0.0002	1.896e-05	0.0044	3.707e-05	0.0002	1.172e-05	4.097e-05	4.054e-05	5.348e-05	2.79e-05	0.0002	1.771e-05	1.166e-05	1.218e-05	6.38e-06	2.48e-05	0	0	0	0.0002	0	0	4.588e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002646	0.000000	0.004076	0.008197	0.000000	0.000000	0.000000	0.000000	0.05	1404.39	34	chr18	14105211	.	CCT	C	1404.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.111;DP=404;ExcessHet=0;FS=5.955;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=26.5;ReadPosRankSum=-1.445;SOR=0.339	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1148	9	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1306	2	0	8	0
chr18	14803765	14803765	T	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon24:c.T2225G:p.V742G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00706856498388	.	.	0.0004	0.0005	0.0002	0	0	1.837e-05	0	0.0019	0.0001035	16	154602	rs201930187	0.0003	0.0004	0.0002	0.0004	0.0026	0.0002	0.0002	0.0023	0.0022	0.0006	0.0003	7.697e-05	0.0008	3.752e-05	0.0014	6.846e-05	0.0002	0.0026	0.0008	0.0010	0.0007	0.0010	0.0044	0.0007	0.0007	0.0029	0.0025	0.0019	0	0.0004	0	0.0017	0	0	0.0002	0.0010	0.0044	0.004	0.65419	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.32	0.06214	T	-1.0	0.26422	N	0.178	0.19190	-0.9816	0.34632	T	0.011	0.04042	T	9	0.006880611	0.00156	T	0.007069	0.18731	T	0.065	0.18881	0.187	0.09646	0.0666544352282	0.05500	0.0014772188668790728	0.00136	0.199299692912	0.22328	0.738695383072	0.72779	T	0.003147	0.02546	T	-0.367802	0.03706	T	-0.766098	0.02899	T	0.00386776699539857	0.00041	T	0.275372	0.04709	T	0.069399394	0.15202	0.07285497	0.15767	0.069399394	0.15202	0.07285497	0.15767	-8.23	0.62627	D	.	.	0.208	0.43462	B	.	.	0.173881	0.05623	2.076	0.29473459778856803	0.01565	0.00111	0.00708	N	AEFI	0.020952	0.00882	N	-1.99680460218068	0.00215	0.009214503	-2.1186660006152	0.00170	0.007463557	6.02251916974329E-4	0.07437	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.65	-3.3	0.04692	-0.444000	0.06926	.	.	-1.470000	0.01072	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.313:0.0:0.2907:0.3963	3.013	0.05682	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	409.43	34	chr18	14803765	.	T	G	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.51;DP=382;ExcessHet=0;FS=3.945;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.09;MQRankSum=-3.917;QD=7.44;ReadPosRankSum=0.919;SOR=1.033	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,883	9	0	1	0
chr18	14808717	14808717	T	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon26:c.T2359G:p.L787V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.193e-06	2.056e-06	0	4.446e-06	9.435e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.435e-07	3.533e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	385.43	35	chr18	14808717	.	T	G	385.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.325;DP=254;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.01;MQRankSum=1.13;QD=14.28;ReadPosRankSum=-0.978;SOR=0.527	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,515	9	0	1	0
chr18	14851518	14851518	A	G	exonic	ANKRD30B	.	nonsynonymous SNV	ANKRD30B:NM_001367607:exon42:c.A3574G:p.T1192A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00291464088749	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1231796608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.135	0.34124	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.83	0.20963	L	2.34	0.16351	T	-1.11	0.28703	N	0.03	0.00717	-1.0115	0.26447	T	0.035	0.15074	T	9	0.065399736	0.08819	T	0.002915	0.06162	T	0.045	0.12272	.	.	0.0482279557977	0.04254	0.006452707389506797	0.00613	0.0318142403543	0.03299	0.849252104759	0.89502	D	0.003922	0.03333	T	-0.387684	0.02784	T	-0.794657	0.02039	T	0.102265505721601	0.12604	T	0.229577	0.03081	T	0.036108065	0.04378	0.040937223	0.04540	0.036108065	0.04378	0.040937223	0.04539	-4.339	0.28720	T	.	.	0.179	0.39012	B	.	.	0.356051	0.07288	3.897	0.29208554072945636	0.01538	0.08831	0.14701	N	AEFDGBI	0.045963	0.07577	N	-1.34053043592119	0.03223	0.1436517	-1.44559681357169	0.02810	0.129943	0.0927884093635131	0.16167	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.48	0.212	0.14516	1.721000	0.37654	.	.	-2.121000	0.00385	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.7483:0.2517:0.0:0.0	6.188	0.19722	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1159.43	34	chr18	14851518	.	A	G	1159.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.089;DP=392;ExcessHet=0;FS=4.68;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.4;MQRankSum=-1.345;QD=13.48;ReadPosRankSum=-1.189;SOR=0.32	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,977	9	0	1	0
chr18	20969173	20969173	A	C	exonic	ROCK1	.	nonsynonymous SNV	ROCK1:NM_005406:exon24:c.T2856G:p.I952M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00215237523393	.	.	8.307e-06	0	8.721e-05	0	0	0	0	0	6.5e-06	1	154602	rs745320980	4.133e-06	4.104e-06	1.372e-06	6.917e-06	0.0003	1.49e-06	9.8e-07	6.111e-05	2.528e-05	0	0	0	0	0	0.0003	0	0	4.643e-05	6.569e-06	6.564e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.144	0.25255	T	0.351	0.17425	T	0.019	0.17989	B	0.027	0.21085	B	0.018354	0.27503	N	0.392038	0.922108	0.27268	N	1.32	0.33002	L	2.48	0.14657	T	-0.98	0.25986	N	0.098	0.07949	-1.0631	0.10997	T	0.028	0.11971	T	10	0.063587666	0.08306	T	0.002152	0.04016	T	0.065	0.18881	0.382	0.39970	0.143184338766	0.13958	0.17008099268667182	0.16928	0.482400438877	0.47204	0.288331151009	0.08680	T	0.139733	0.47390	T	-0.472345	0.00822	T	-0.734739	0.04116	T	0.0480846527385701	0.05159	T	0.660634	0.26999	T	0.1821303	0.39416	0.14830372	0.35061	0.1821303	0.39416	0.14830372	0.35060	-5.298	0.39923	T	.	.	0.093	0.13969	B	.	.	1.929537	0.24505	16.42	0.71156537243256524	0.09534	0.82233	0.41492	D	AEFBI	0.163693	0.29000	N	-0.766453732786692	0.14190	0.7048887	-0.612595814970905	0.19170	1.027311	0.99993611919707	0.46732	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.25	4.1	0.47196	0.367000	0.20116	2.061000	0.30394	-0.059000	0.16651	0.984000	0.35821	0.986000	0.30841	0.975000	0.56047	0.7608:0.2392:0.0:0.0	13.705	0.62113	556	0.71678	Rho binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	936.43	33	chr18	20969173	.	A	C	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.561;DP=384;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.63;ReadPosRankSum=0.028;SOR=0.477	GT:AD:DP:GQ:PL	0/1:22,42:64:99:948,0,518	9	0	1	0
chr18	21495727	21495727	G	A	exonic	GREB1L	.	nonsynonymous SNV	GREB1L:NM_001142966:exon20:c.G3088A:p.G1030S	.	.	.	.	.	.	.	.	.	.	.	3131632	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.600	0.160334888851	.	.	4.594e-05	0	0.0025	0	0	0	0	0	6.5e-06	1	154602	rs199956733	1.505e-05	1.71e-05	1.414e-05	1.598e-05	0.0002	9.67e-06	8.21e-06	4.08e-05	2.864e-05	3.178e-05	0	0	0	0	0.0002	8.36e-06	5.181e-05	8.876e-05	1.315e-05	1.313e-05	0	2.692e-05	0.0002	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0	0.0002	0.013	0.53900	D	0.041	0.50514	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	2.175	0.60977	M	-0.78	0.73631	T	-4.38	0.77143	D	0.662	0.76111	0.212	0.86116	D	0.596	0.85596	D	10	0.2079092	0.37103	T	0.160335	0.84036	D	0.600	0.84183	0.332	0.31843	0.389126455913	0.38528	0.9436587044106117	0.94347	.	.	0.711199581623	0.68767	T	0.062051	0.31814	T	0.0572816	0.59270	T	0.0811731	0.75657	D	0.941144049167633	0.61412	D	0.965603	0.87267	D	0.5020853	0.67217	0.47366562	0.69492	0.5020853	0.67218	0.47366562	0.69493	-7.517	0.62539	D	0.6064690274456255	0.67378	0.164	0.40952	B	.;.;.	.;.;.	5.197752	0.87191	29.2	0.99883817309093414	0.95970	0.98989	0.89614	D	AEFBI	0.924448	0.90249	D	0.889334241782328	0.91227	10.77819	0.864085859988811	0.93812	12.29715	0.999999999996487	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.42	5.42	0.78666	9.602000	0.97623	11.793000	0.96431	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	19.244	0.93880	399	0.82780	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	564.43	33	chr18	21495727	.	G	A	564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.168;DP=353;ExcessHet=0;FS=4.365;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.875;SOR=0.937	GT:AD:DP:GQ:PL	0/1:21,22:43:99:576,0,542	9	0	1	0
chr18	22993611	22993611	A	G	exonic	RBBP8	.	nonsynonymous SNV	RBBP8:NM_002894:exon11:c.A1784G:p.E595G,RBBP8:NM_203291:exon11:c.A1784G:p.E595G,RBBP8:NM_203292:exon11:c.A1784G:p.E595G	Jawad syndrome, Autosomal recessive;Pancreatic carcinoma, somatic (3);Seckel syndrome 2, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0133261006627	.	.	8.28e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs775293996	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.101	0.38596	T	0.682	0.41464	P	0.255	0.39216	B	0.014793	0.28429	N	0.297899	0.767294	0.34109	D	.	.	.	1.35	0.35590	T	-2.68	0.59226	D	0.392	0.62526	-1.0157	0.25110	T	0.108	0.39123	T	10	0.24668676	0.41937	T	0.013326	0.32649	T	0.049	0.13647	0.296	0.26041	0.537216399577	0.53373	0.09258237550509744	0.09190	0.168900827507	0.19044	0.379694908857	0.22214	T	0.633531	0.88672	D	-0.158468	0.26998	T	-0.36855	0.37058	T	0.858604609966278	0.50924	D	0.838616	0.51225	T	0.09767423	0.23027	0.17560548	0.40038	0.09767423	0.23027	0.17560548	0.40037	-3.857	0.23683	T	0.5823436546982556	0.64916	0.101	0.28174	B	.;.;.;.;.	.;.;.;.;.	3.410416	0.47304	22.4	0.99794785720603574	0.88017	0.95057	0.63281	D	AEFGBI	0.595897	0.59027	D	0.36708336109311	0.59646	4.145901	0.462948182464366	0.65551	4.838308	0.999556512726071	0.40362	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	4.302000	0.58887	6.896000	0.56856	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.8572:0.0:0.0:0.1428	10.628	0.44709	937	0.14592	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1153.43	35	chr18	22993611	.	A	G	1153.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.175;DP=441;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=-0.06;SOR=0.897	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,101,1138	9	0	1	0
chr18	23136198	23136198	C	G	exonic	CABLES1	.	nonsynonymous SNV	CABLES1:NM_001100619:exon1:c.C436G:p.L146V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.183003954255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.494	0.11407	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999748	0.48716	D	0.695	0.17993	N	0.85	0.47130	T	-0.19	0.09965	N	0.107	0.09207	-1.0586	0.12108	T	0.085	0.33185	T	9	0.09517419	0.16979	T	0.183004	0.85657	D	0.073	0.21317	0.089	0.00982	0.225902525712	0.22197	0.14296103350842468	0.14219	1.14508194576	0.79051	0.792126655579	0.80765	T	0.029675	0.21209	T	-0.23759	0.15658	T	-0.579058	0.14628	T	0.109742569462285	0.13397	T	0.49515	0.15352	T	0.14540468	0.33332	0.110157035	0.26557	0.14540468	0.33332	0.110157035	0.26557	-4.971	0.36523	T	.	.	0.061	0.01161	B	.	.	1.555955	0.19936	14.51	0.77631832237655463	0.11957	0.02744	0.07423	N	AEFDBHCIJ	0.063684	0.12322	N	-0.913976402619673	0.10515	0.5028142	-0.967365333262658	0.10522	0.5305269	0.999999433560227	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	2.09	2.09	0.26154	0.781000	0.26435	3.277000	0.37202	0.432000	0.20950	0.001000	0.13787	0.981000	0.30433	0.026000	0.12556	0.0:1.0:0.0:0.0	7.655	0.27538	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	248.43	22	chr18	23136198	.	C	G	248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.693;DP=189;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.89;SOR=1.085	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,240	9	0	1	0
chr18	23536743	23536743	G	A	exonic	NPC1	.	stopgain	NPC1:NM_000271:exon21:c.C3175T:p.R1059X	Niemann-Pick disease, type C1, Autosomal recessive;Niemann-Pick disease, type D, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	187023	Niemann-Pick_disease,_type_C|Niemann-Pick_disease,_type_C1	MONDO:MONDO:0018982,MedGen:C0220756,Orphanet:646|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs786204455	3.42e-06	3.42e-06	5.445e-06	1.375e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.311e-05	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000930	0.41028	D	0.276784	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.966	0.97643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.101587	0.98466	39	0.99707147960794151	0.81074	0.94715	0.62081	D	AEFGBI	0.139991	0.26177	N	0.452690348008076	0.64357	4.688219	0.233351713113969	0.51707	3.350977	0.999987565186162	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.93	2.77	0.31614	4.021000	0.56907	4.591000	0.43958	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.632:0.368	16.385	0.83338	839	0.37672	.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1710.43	36	chr18	23536743	.	G	A	1710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.053;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.668;SOR=0.709	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr18	23561450	23561450	C	T	exonic	NPC1	.	nonsynonymous SNV	NPC1:NM_000271:exon5:c.G541A:p.A181T	Niemann-Pick disease, type C1, Autosomal recessive;Niemann-Pick disease, type D, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	489385	not_provided|Niemann-Pick_disease,_type_C1|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0009757,MedGen:C3179455,OMIM:257220,Orphanet:646|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.376	0.0887321777392	.	0.000199681	8.236e-05	0	0.0002	0.0005	0	4.495e-05	0	6.056e-05	9.06e-05	14	154602	rs199963560	0.0001	0.0001	9.529e-05	0.0001	0.0010	9.334e-05	8.817e-05	0.0005	0.0003	2.987e-05	0.0002	0	0.0004	0	0.0010	6.655e-05	0.0007	0.0001	0.0001	0.0001	8.993e-05	0.0001	0.0010	7.085e-05	5.742e-05	0.0004	0.0002	0	0	0.0004	0	0.0010	0	0	7.349e-05	0.0005	0	0.042	0.41637	D	0.111	0.37173	T	0.494	0.37037	P	0.082	0.29098	B	0.000004	0.62929	D	0.105771	1	0.81001	D	2.615	0.76484	M	-2.39	0.88377	D	-2.67	0.57110	D	0.586	0.60664	0.250	0.86749	D	0.613	0.86305	D	10	0.2908238	0.46662	T	0.088732	0.75190	D	0.376	0.69443	.	.	0.860940065329	0.85959	0.7748344976421648	0.77433	0.314042582292	0.33690	0.491284817457	0.37616	T	0.761398	0.93539	D	-0.156312	0.27329	T	-0.105931	0.62934	T	0.167528550450238	0.18411	T	0.817118	0.47377	T	0.25175914	0.48186	0.24432768	0.49896	0.25175914	0.48186	0.24432768	0.49895	-6.176	0.47728	T	.	.	0.085	0.10400	B	.	.	3.352708	0.46249	22.3	0.99833447753613591	0.91456	0.98369	0.82077	D	AEFBI	0.715380	0.66756	D	0.243589612786723	0.53324	3.501668	0.309670821834889	0.56107	3.77371	0.999999423432441	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	6.091000	0.71052	2.725000	0.34343	-0.212000	0.08331	0.999000	0.42656	0.993000	0.31925	0.791000	0.37352	0.0:0.8636:0.1364:0.0	15.771	0.77935	600	0.68026	Niemann-Pick C1, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1349.43	117	chr18	23561450	.	C	T	1349.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=0.554;SOR=0.713	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1026	9	0	1	0
chr18	23953103	23953103	G	T	exonic	LAMA3	.	nonsynonymous SNV	LAMA3:NM_001127718:exon36:c.G4855T:p.A1619S,LAMA3:NM_000227:exon37:c.G5023T:p.A1675S,LAMA3:NM_001127717:exon73:c.G9682T:p.A3228S,LAMA3:NM_198129:exon74:c.G9850T:p.A3284S	Epidermolysis bullosa, generalized atrophic benign, Autosomal recessive;Epidermolysis bullosa, junctional, Herlitz type, Autosomal recessive;Laryngoonychocutaneous syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	772090	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.130	0.095383222299	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001358	21	154602	rs563708367	6.294e-05	6.293e-05	3.948e-05	8.664e-05	0.0011	5.228e-05	4.846e-05	0.0009	0.0008	2.988e-05	0	0	0	0	0	0	0	0.0011	3.282e-05	3.281e-05	2.569e-05	4.028e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.021	0.72154	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.16	0.78082	T	-1.12	0.31778	N	0.172	0.20660	-0.8954	0.48446	T	0.208	0.56676	T	9	0.038548917	0.02280	T	0.095383	0.76418	D	0.130	0.35528	0.602	0.73346	0.445210270852	0.44144	0.4709130688852207	0.47010	0.141034383321	0.15908	0.229263484478	0.01914	T	0.014607	0.12402	T	-0.455603	0.01046	T	-0.467752	0.25758	T	0.0601339120120926	0.07190	T	0.851815	0.53646	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.10111	B	.;.;.;.;.	.;.;.;.;.	1.514306	0.19452	14.27	0.98789918032329005	0.46269	0.09544	0.15276	N	AEFDBI	0.210825	0.33667	N	-0.745309108471153	0.14761	0.7380653	-0.678902243770895	0.17489	0.9301591	0.103805662601731	0.16457	0.638212	0.43195	0	0.627178	0.54094	0	0.527494	0.11647	0	0.668105	0.65232	0	.	.	6.07	0.456	0.15868	-0.392000	0.07375	-0.018000	0.12964	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.968000	0.53726	0.4912:0.1318:0.377:0.0	6.233	0.19955	528	0.73785	.;Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1486.43	33	chr18	23953103	.	G	T	1486.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.302;DP=426;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.356;SOR=0.481	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1122	9	0	1	0
chr18	24159928	24159928	C	T	exonic	CABYR	.	nonsynonymous SNV	CABYR:NM_138643:exon3:c.C704T:p.S235F,CABYR:NM_138644:exon5:c.C998T:p.S333F,CABYR:NM_153769:exon5:c.C998T:p.S333F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0328141312055	.	0.000599042	0.0002	0	8.637e-05	0	0	0	0	0.0017	0.000207	32	154602	rs575183641	0.0001	0.0002	8.303e-05	0.0002	0.0024	0.0001	0.0001	0.0022	0.0020	0	0	0	0	0	0.0002	0	0.0001	0.0024	5.91e-05	5.906e-05	1.285e-05	0.0001	0.0019	3.076e-05	2.209e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.994	0.82059	D	.	.	.	.	.	.	.	.	.	.	0.34	0.58176	T	-1.75	0.58733	N	0.793	0.83167	-0.6126	0.64296	T	0.233	0.59904	T	9	0.12684605	0.24117	T	0.032814	0.54540	D	0.220	0.51569	0.459	0.52590	0.692475202585	0.68983	.	.	0.528918376042	0.50453	.	.	.	.	.	.	-0.329771	0.06129	T	-0.252946	0.49526	T	0.230367662698453	0.21969	T	0.752425	0.48487	T	.	.	.	.	.	.	.	.	-5.613	0.45102	T	.	.	0.551	0.66820	A	.;.;.	.;.;.	4.707856	0.75603	26.4	0.9981745863177357	0.90061	0.90694	0.52085	D	AEFGBI	0.482350	0.52325	N	0.54386405855352	0.69708	5.395687	0.578490697831354	0.73400	5.964309	0.999995549872913	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.51	5.51	0.81769	3.030000	0.49407	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	17.187	0.86751	949	0.11373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	1392.43	35	chr18	24159928	.	C	T	1392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.243;DP=449;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.601;SOR=0.793	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1213	9	0	1	0
chr18	26133996	26133996	G	C	exonic	PSMA8	.	nonsynonymous SNV	PSMA8:NM_001025096:exon1:c.G31C:p.V11L,PSMA8:NM_001025097:exon1:c.G31C:p.V11L,PSMA8:NM_144662:exon1:c.G31C:p.V11L	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.043441999963	.	0.00119808	0.0008	0	0.0002	0.0001	0	0	0.0011	0.0058	0.0006856	106	154602	rs550786252	0.0003	0.0003	0.0001	0.0005	0.0051	0.0003	0.0003	0.0048	0.0046	2.987e-05	2.236e-05	0	2.519e-05	0	0.0003	1.799e-06	0.0003	0.0051	0.0002	0.0002	6.425e-05	0.0003	0.0050	0.0001	9.233e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.003	0.72154	D	0.025	0.56192	D	0.08	0.25584	B	0.076	0.32546	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.95	0.43279	T	-2.08	0.50502	N	0.723	0.75559	-0.8076	0.54695	T	0.165	0.50340	T	10	0.021186411	0.00502	T	0.043442	0.60987	D	0.277	0.59375	0.697	0.83406	0.411401001288	0.40751	0.5059640973157141	0.50518	0.585436117462	0.54184	0.889961063862	0.95256	D	0.115793	0.43464	T	-0.200419	0.20745	T	-0.0592983	0.66382	T	0.142721730910002	0.16507	T	0.986101	0.95276	D	0.6918406	0.77611	0.81663495	0.89323	0.6918406	0.77612	0.81663495	0.89324	-12.374	0.87160	D	.	.	0.874	0.81386	P	.;.;.	.;.;.	4.477745	0.69836	25.4	0.98087640942309162	0.38157	0.94045	0.59947	D	ALL	0.918005	0.88643	D	0.356248354720923	0.59072	4.083559	0.471276387710045	0.66093	4.907585	0.999999999999864	0.74766	0.437478	0.07067	0	0.514364	0.08380	0	0.606814	0.37721	0	0.542086	0.14980	0	.	.	5.08	5.08	0.68373	9.052000	0.93306	9.294000	0.79816	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	16.019	0.80264	918	0.19598	.;.;Proteasome alpha-subunit, N-terminal domain|Proteasome alpha-subunit, N-terminal domain|Proteasome alpha-subunit, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1473.43	37	chr18	26133996	.	G	C	1473.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.424;DP=452;ExcessHet=0;FS=3.115;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.236;SOR=0.967	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1420	9	0	1	0
chr18	27142808	27142808	A	G	exonic	CHST9	.	startloss	CHST9:NM_001256316:exon2:c.T2C:p.M1?,CHST9:NM_031422:exon2:c.T2C:p.M1?	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0400831746227	.	.	4.15e-05	0	8.643e-05	0	0	1.501e-05	0	0.0002	4.53e-05	7	154602	rs751680562	8.305e-05	8.414e-05	8.804e-05	7.8e-05	0.0005	7.084e-05	6.629e-05	0.0002	0.0001	0	2.459e-05	0	0	0	0.0005	7.952e-05	0.0001	0.0003	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.0	0.92824	D	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.999942	0.19238	N	.	.	.	-0.18	0.65747	T	.	.	.	0.144	0.34228	-0.9432	0.42105	T	0.146	0.47074	T	8	0.6638545	0.70311	D	0.040083	0.59179	D	.	.	0.994	0.99935	0.798783965399	0.79691	0.5047316998995238	0.50395	.	.	.	.	.	0.091616	0.38833	T	-0.327718	0.06285	T	-0.416372	0.31492	T	0.213430689818649	0.21131	T	0.9	0.65058	D	0.62473595	0.74016	0.37634304	0.62759	0.62473595	0.74018	0.37634304	0.62758	-5.648	0.60551	T	.	.	.	.	.	.;.;.	.;.;.	2.236696	0.28556	17.84	0.97250674760076627	0.33043	0.54532	0.29639	D	AEFBI	0.029333	0.02749	N	-0.338144743300314	0.27711	1.522535	-0.229516509533909	0.30483	1.71676	0.999719863611714	0.42101	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.35	1.61	0.22752	1.037000	0.29850	1.433000	0.26463	0.691000	0.84096	0.997000	0.40164	0.001000	0.17328	0.934000	0.47231	0.6617:0.1626:0.1757:0.0	4.686	0.12138	974	0.05496	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	684.43	33	chr18	27142808	.	A	G	684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.437;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.305;SOR=0.601	GT:AD:DP:GQ:PL	0/1:27,34:61:99:696,0,629	9	0	1	0
chr18	31008383	31008383	G	A	exonic	DSC3	.	nonsynonymous SNV	DSC3:NM_001941:exon10:c.C1406T:p.P469L,DSC3:NM_024423:exon10:c.C1406T:p.P469L	.	1	1504	16	1	0	18	0.00594845	.	.	.	2337321	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.769	0.166685088767	0.0007	0.000599042	0.0006	0	0.0003	0	0	0.0010	0.0011	6.058e-05	0.0005821	90	154602	rs114245564	0.0007	0.0007	0.0007	0.0007	0.0040	0.0006	0.0006	0.0027	0.0023	8.961e-05	0.0003	0	0	0.0002	0.0040	0.0008	0.0010	0.0002	0.0007	0.0007	0.0008	0.0007	0.0016	0.0006	0.0006	0.0011	0.0009	7.224e-05	0	0.0016	0	0	0.0005	0.0034	0.0011	0.0019	0.0002	0.0	0.91255	D	0.005	0.72224	D	0.996	0.90584	D	0.958	0.88582	D	0.005479	0.32770	N	0.000000	1	0.81001	D	3.51	0.92865	H	-1.9	0.84628	D	-9.55	0.98488	D	0.914	0.91621	0.822	0.94676	D	0.814	0.93729	D	10	0.74781996	0.75417	D	0.166685	0.84525	D	0.769	0.92212	.	.	0.97301215591	0.97272	0.8723910396505815	0.87205	0.26967950493	0.29493	0.483787536621	0.36579	T	0.717995	0.92008	D	0.15163	0.69420	D	0.404497	0.92259	D	0.394849210977554	0.28748	T	0.989679	0.96647	D	0.7826117	0.82814	0.6335947	0.78616	0.7826117	0.82816	0.6335947	0.78617	-9.249	0.70003	D	.	.	0.515	0.70341	A	.;.	.;.	5.205348	0.87333	29.2	0.99846538883569147	0.92663	0.99033	0.90246	D	AEFBI	0.855418	0.77254	D	1.05904075351223	0.97298	15.89692	0.963641066868319	0.97792	16.77534	0.999999943122216	0.74766	0.638212	0.43195	0	0.627178	0.54094	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.34	5.34	0.75982	6.776000	0.74817	11.770000	0.95838	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.187	0.93632	849	0.35778	Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.010101	0.002717	0.005848	0.000000	0.000000	0.006098	0.000000	0.05	1562.43	33	chr18	31008383	.	G	A	1562.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.05;DP=458;ExcessHet=0;FS=6.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.28;SOR=0.829	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1200	9	0	1	0
chr18	31131742	31131742	A	G	exonic	DSC1	.	nonsynonymous SNV	DSC1:NM_004948:exon15:c.T2339C:p.F780S,DSC1:NM_024421:exon15:c.T2339C:p.F780S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0604204666885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	0.999	0.92359	D	0.000040	0.55875	D	0.000000	0.966955	0.38619	D	1.87	0.49600	L	0.46	0.56281	T	-4.29	0.76414	D	0.711	0.76019	-0.6058	0.64577	T	0.248	0.61693	T	10	0.7708557	0.77070	D	0.06042	0.67996	D	0.315	0.63694	0.521	0.62368	0.865298002018	0.86399	0.5791395874192566	0.57842	0.507237118892	0.48910	0.615261971951	0.55059	T	0.120216	0.44230	T	0.0650316	0.60238	T	-0.144363	0.59738	T	0.996919870376587	0.90354	D	0.916508	0.70155	D	0.46277747	0.64844	0.5793416	0.75620	0.46277747	0.64844	0.5793416	0.75621	-2.787	0.08064	T	.	.	0.526	0.68114	A	.;.	.;.	4.769460	0.77191	26.7	0.99871843139046357	0.94902	0.97281	0.73769	D	AEFI	0.560723	0.56901	D	0.564761994017948	0.70986	5.582666	0.556527348876073	0.71851	5.71851	0.273073457351517	0.18912	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	6.030000	0.70548	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.8026:0.1301:0.0674:0.0	8.569	0.32719	710	0.56735	.;Cadherin, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2123.43	43	chr18	31131742	.	A	G	2123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=584;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-2.274;SOR=0.719	GT:AD:DP:GQ:PL	0/1:105,88:193:99:2135,0,2536	9	0	1	0
chr18	31140159	31140159	C	A	exonic	DSC1	.	nonsynonymous SNV	DSC1:NM_004948:exon10:c.G1403T:p.G468V,DSC1:NM_024421:exon10:c.G1403T:p.G468V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0954329120144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000050	0.53742	D	0.000000	1	0.81001	D	3.55	0.93268	H	0.17	0.60485	T	-8.15	0.97055	D	0.848	0.85027	-0.0439	0.81335	T	0.458	0.78906	T	10	0.86742336	0.85992	D	0.095433	0.76427	D	0.386	0.70276	0.514	0.61307	0.912829283661	0.91195	0.8857443710965487	0.88543	0.431216112799	0.43339	0.456139117479	0.32783	T	0.433575	0.78096	T	0.182972	0.72316	D	0.0250499	0.71957	D	0.998927175998688	0.95599	D	0.977602	0.95568	D	0.96015245	0.97295	0.9365388	0.97538	0.96015245	0.97296	0.9365388	0.97539	-12.337	0.86454	D	.	.	0.775	0.80734	P	.;.	.;.	4.235375	0.64170	24.7	0.99798482676397537	0.88372	0.97300	0.73886	D	AEFI	0.508382	0.53829	D	0.779720946230751	0.84823	8.396275	0.724237118603478	0.84219	8.231477	0.991489546336187	0.32504	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.83	5.83	0.93059	4.140000	0.57795	7.622000	0.62351	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.900000	0.43643	0.0:1.0:0.0:0.0	17.903	0.88829	710	0.56735	Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	957.43	43	chr18	31140159	.	C	A	957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.843;DP=476;ExcessHet=0;FS=7.4;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.4;ReadPosRankSum=0.626;SOR=1.074	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr18	31355276	31355276	T	C	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.T3080C:p.I1027T	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1374829	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00992475357004	7.7e-05	.	7.467e-05	0	8.651e-05	0	0	0.0001	0	6.234e-05	6.47e-05	10	154602	rs149564748	7.527e-05	7.593e-05	6.944e-05	8.116e-05	9.355e-05	6.384e-05	5.94e-05	7.862e-05	7.346e-05	0	2.237e-05	0	0	0	0	9.355e-05	1.656e-05	4.642e-05	5.913e-05	5.91e-05	7.708e-05	4.035e-05	0.0002	3.077e-05	2.21e-05	3.762e-05	2.575e-05	0	0	0.0001	0	0	0	0	8.82e-05	0	0.0002	0.087	0.32453	T	0.146	0.62352	T	0.094	0.25382	B	0.026	0.20792	B	0.116016	0.19210	N	0.507121	0.987897	0.25138	N	1.24	0.30952	L	0.23	0.59717	T	-1.79	0.42191	N	0.058	0.03392	-0.9720	0.36776	T	0.144	0.46714	T	10	0.082832694	0.13713	T	0.009925	0.25833	T	0.052	0.14661	.	.	0.266724437049	0.26276	0.2511879651734945	0.25032	0.0906102888883	0.10225	0.330098778009	0.14949	T	0.046535	0.27452	T	-0.308581	0.07874	T	-0.45533	0.27108	T	0.0681469664010789	0.08389	T	0.70483	0.31676	T	0.14394285	0.33061	0.1268384	0.30542	0.14394285	0.33061	0.1268384	0.30542	-3.886	0.22092	T	.	.	0.079	0.07460	B	.;.	.;.	3.213820	0.43755	21.8	0.95573968782034324	0.27270	0.92541	0.55954	D	AEFDBI	.	.	.	-0.0547368733630735	0.39390	2.322208	0.139854305073548	0.46606	2.90396	0.999999754678052	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.11	6.11	0.99132	5.256000	0.65286	5.034000	0.46851	0.665000	0.62972	0.847000	0.30396	0.932000	0.28569	0.814000	0.38357	0.0:0.0:0.0:1.0	16.702	0.85216	531	0.73574	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	820.43	41	chr18	31355276	.	T	C	820.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.553;DP=425;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.043;SOR=0.458	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,114,1710	9	0	1	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.15	4496.45	135	chr18	31403566	.	C	T	4496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.43;DP=690;ExcessHet=0.7463;FS=1.778;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.474;SOR=0.851	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1475,0,1854	7	0	3	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1362.11	52	chr18	31541297	.	G	A	1362.11	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-0.721;DP=562;ExcessHet=7.0302;FS=370.853;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.35;ReadPosRankSum=1.53;SOR=10.577	GT:AD:DP:GQ:PL	0/1:39,24:63:99:159,0,499	1	0	7	2
chr18	33740124	33740124	A	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon11:c.A2720G:p.Y907C	Bainbridge-Ropers syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.00891449092696	.	.	1.661e-05	0	0	0	0	3.007e-05	0	0	1.94e-05	3	154602	rs774221607	1.916e-05	1.915e-05	1.361e-05	2.476e-05	2.236e-05	1.329e-05	1.144e-05	1.377e-05	1.151e-05	0	2.236e-05	0	0	0	0	2.069e-05	6.626e-05	0	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0001	1.261e-05	7.98e-06	2.26e-05	9.07e-06	0	0.0022	0.0001	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.045	0.49390	D	0.99	0.63424	D	0.751	0.56062	P	0.470313	0.12286	N	0.750078	0.582011	0.32383	D	2.765	0.80766	M	2.31	0.16794	T	-1.98	0.45769	N	0.736	0.73645	-1.0207	0.23486	T	0.061	0.25310	T	10	0.09611717	0.17216	T	0.008914	0.23487	T	0.184	0.45763	0.181	0.08877	0.204265027416	0.20035	0.3980445626819343	0.39719	0.546768111876	0.51660	0.536405444145	0.43938	T	0.068721	0.33530	T	0.0309089	0.55845	T	-0.177892	0.56718	T	0.766619980335236	0.44238	D	0.814619	0.47860	T	0.1363653	0.31615	0.14405255	0.34213	0.1363653	0.31615	0.14405255	0.34212	-2.618	0.06641	T	0.3485020929316617	0.44587	0.104	0.20235	B	.;.	.;.	2.898375	0.38406	20.7	0.98971440804134503	0.49540	0.91594	0.53855	D	AEGBI	0.376586	0.46068	N	0.0932708860584661	0.46149	2.859792	0.0291301551460953	0.41073	2.461606	0.911927050707701	0.26380	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.07	4.89	0.63387	3.024000	0.49358	2.472000	0.32901	0.756000	0.94297	1.000000	0.71638	0.823000	0.27144	0.681000	0.33571	0.8758:0.0:0.0:0.1242	12.623	0.55971	530	0.73653	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1850.43	33	chr18	33740124	.	A	G	1850.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.939;DP=453;ExcessHet=0;FS=1.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=1.09;SOR=0.845	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,991	9	0	1	0
chr18	33746048	33746048	T	G	exonic	ASXL3	.	nonsynonymous SNV	ASXL3:NM_030632:exon12:c.T6200G:p.L2067R	Bainbridge-Ropers syndrome	9	1502	10	1	0	12	0.00397878	.	.	.	215555	Severe_feeding_difficulties-failure_to_thrive-microcephaly_due_to_ASXL3_deficiency_syndrome|ASXL3-related_disorder|not_provided|not_specified	MONDO:MONDO:0014205,MedGen:C4750837,OMIM:615485,Orphanet:352577|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.139	0.00838704930115	0.0070	0.00239617	0.0063	0.0013	0.0030	0	0.0011	0.0096	0.0034	0.0040	0.0062483	966	154602	rs144534810	0.0096	0.0096	0.0098	0.0094	0.0113	0.0094	0.0094	0.0111	0.0111	0.0012	0.0050	0.0076	0	0.0008	0.0057	0.0113	0.0088	0.0041	0.0067	0.0067	0.0067	0.0066	0.0105	0.0063	0.0062	0.0099	0.0096	0.0018	0.0011	0.0095	0.0078	0	0.0011	0.0342	0.0105	0.0096	0.0019	0.001	0.78490	D	0.046	0.49120	D	0.994	0.66517	D	0.844	0.60373	P	.	.	.	.	0.994832	0.42435	D	1.04	0.26193	L	2.38	0.15843	T	-0.62	0.18248	N	0.391	0.43223	-1.1234	0.02127	T	0.042	0.18118	T	9	0.007854581	0.00178	T	0.008387	0.22206	T	0.139	0.37390	.	.	0.0934897674506	0.08844	0.6560833145381665	0.65544	0.168159749984	0.18958	0.671352028847	0.63031	T	0.053984	0.29597	T	-0.348477	0.04824	T	-0.263945	0.48430	T	0.0181071546874178	0.00533	T	0.59824	0.22282	T	0.4112579	0.61504	0.51290697	0.71854	0.4112579	0.61504	0.51290697	0.71854	-4.585	0.31982	T	0.6633343462471121	0.73718	0.440	0.61715	A	.	.	4.042049	0.59845	24.1	0.99750389958594343	0.84228	0.94429	0.61137	D	AEFDGBI	0.711550	0.66495	D	0.421137562254106	0.62584	4.476888	0.459852399805416	0.65351	4.812963	0.999998901175806	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.2	5.2	0.71720	4.196000	0.58203	6.107000	0.53619	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:0.0:1.0	15.078	0.71762	531	0.73574	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	1990.43	35	chr18	33746048	.	T	G	1990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.632;DP=515;ExcessHet=0;FS=1.195;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.181;SOR=0.798	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1083	9	0	1	0
chr18	34794117	34794117	A	G	exonic	DTNA	.	nonsynonymous SNV	DTNA:NM_001390:exon3:c.A229G:p.N77D,DTNA:NM_001391:exon3:c.A229G:p.N77D,DTNA:NM_001198941:exon4:c.A229G:p.N77D,DTNA:NM_032978:exon4:c.A229G:p.N77D,DTNA:NM_001128175:exon5:c.A229G:p.N77D,DTNA:NM_001198938:exon5:c.A229G:p.N77D,DTNA:NM_001198939:exon5:c.A229G:p.N77D,DTNA:NM_001198940:exon5:c.A229G:p.N77D,DTNA:NM_001198945:exon5:c.A229G:p.N77D,DTNA:NM_001392:exon5:c.A229G:p.N77D,DTNA:NM_032975:exon5:c.A229G:p.N77D,DTNA:NM_032979:exon5:c.A229G:p.N77D	Left ventricular noncompaction 1, with or without congenital heart defects, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	439168	not_specified|Left_ventricular_noncompaction_1|not_provided	MedGen:CN169374|MONDO:MONDO:0011403,MedGen:C1858725,OMIM:604169,Orphanet:54260|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0233338786392	0.0002	.	0.0001	0	0	0.0001	0	0.0002	0.0011	0	9.7e-05	15	154602	rs147782267	7.046e-05	7.046e-05	8.167e-05	5.913e-05	5.039e-05	5.913e-05	5.522e-05	3.171e-05	2.836e-05	0	0	0.0017	5.039e-05	0	0	4.137e-05	0.0002	0	7.222e-05	7.218e-05	8.994e-05	5.37e-05	0.0002	3.968e-05	3.125e-05	1.972e-05	1.124e-05	0	0	0	0.0017	0.0002	0	0	5.88e-05	0	0	0.645	0.19430	T	0.044	0.49942	D	0.222	0.33382	B	0.149	0.34106	B	0.000382	0.44960	D	0.231515	0.841251	0.81001	D	0.46	0.12951	N	0.26	0.59314	T	-2.17	0.52612	N	0.495	0.56576	-0.9772	0.35638	T	0.109	0.39486	T	10	0.04596007	0.03728	T	0.023334	0.46295	T	0.062	0.17934	.	.	0.714675657368	0.71216	0.4403739408731822	0.43954	0.448870680343	0.44700	0.512057781219	0.40510	T	0.025455	0.66109	T	-0.245436	0.14663	T	-0.364626	0.37517	T	0.100253373632028	0.12385	T	0.952705	0.82322	D	0.25371623	0.48395	0.22237366	0.47080	0.25371623	0.48395	0.22237366	0.47079	-12.959	0.89589	D	0.12363571310111428	0.12010	0.180	0.45678	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.386569	0.46868	22.4	0.99134666671583571	0.53356	0.91995	0.54713	D	AEFDGBI	0.527684	0.54952	D	-0.212891744152622	0.32605	1.840543	-0.0175229851377776	0.38924	2.300237	0.999999797415097	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	5.43	5.43	0.79006	4.567000	0.60566	11.279000	0.91668	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	1.0:0.0:0.0:0.0	14.339	0.66170	577	0.69927	.;.;.;EF-hand domain, type 1;EF-hand domain, type 1;.;.;.;.;.;.;EF-hand domain, type 1;EF-hand domain, type 1;.;EF-hand domain, type 1;EF-hand domain, type 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1990.43	35	chr18	34794117	.	A	G	1990.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=493;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.014;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1314	9	0	1	0
chr18	35479380	35479380	T	C	exonic	INO80C	.	nonsynonymous SNV	INO80C:NM_001308064:exon3:c.A134G:p.K45R,INO80C:NM_194281:exon3:c.A299G:p.K100R,INO80C:NM_001098817:exon5:c.A407G:p.K136R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.0113544223427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.092	0.39954	T	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999985	0.81001	D	2.045	0.56016	M	.	.	.	-1.55	0.38540	N	0.544	0.67132	-0.3121	0.74646	T	0.388	0.74268	T	9	0.38185862	0.54253	T	0.011354	0.28886	T	0.191	0.46948	0.374	0.38667	0.299427821978	0.29548	0.3612907871531562	0.36043	0.380965989734	0.39459	0.729613721371	0.71450	T	0.020344	0.16033	T	0.0599204	0.59604	T	-0.151705	0.59093	T	0.931210219860077	0.59641	D	0.90251	0.65969	D	0.25804892	0.48852	0.26882803	0.52756	0.25804892	0.48852	0.26882803	0.52755	-3.876	0.35042	T	.	.	0.197	0.41873	B	.;.;.;.	.;.;.;.	4.000160	0.58941	24.0	0.9980758163564013	0.89174	0.93652	0.58806	D	ALL	0.942758	0.94774	D	0.590924995463966	0.72609	5.832526	0.631199344943575	0.77217	6.637071	0.999999999999998	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.58	5.58	0.84361	7.608000	0.82114	5.980000	0.52153	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	13.999	0.63937	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2111.43	33	chr18	35479380	.	T	C	2111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.232;DP=464;ExcessHet=0;FS=8.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.478;SOR=0.292	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr18	35497843	35497843	G	C	exonic	INO80C	.	nonsynonymous SNV	INO80C:NM_001098817:exon1:c.C32G:p.T11S,INO80C:NM_194281:exon1:c.C32G:p.T11S	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0046	0.00259585	0.0049	0.0011	0.0044	0	0.0005	0.0050	0.0023	0.0124	0.0046895	725	154602	rs142615973	0.0059	0.0059	0.0057	0.0061	0.0110	0.0058	0.0057	0.0105	0.0102	0.0012	0.0039	0.0016	5.33e-05	0.0007	0.0072	0.0062	0.0061	0.0110	0.0040	0.0040	0.0042	0.0038	0.0087	0.0037	0.0036	0.0066	0.0059	0.0011	0	0.0046	0.0017	0	0.0005	0.0068	0.0063	0.0061	0.0087	0.354	0.18000	T	0.049	0.48336	D	0.007	0.14184	B	0.011	0.15521	B	0.089493	0.20425	N	0.537042	1	0.08975	N	1.155	0.29575	L	.	.	.	-0.72	0.20358	N	0.249	0.33030	-1.0241	0.22377	T	0.022	0.09559	T	9	0.0042429864	0.00085	T	.	.	.	0.047	0.12962	0.088	0.00943	0.152612264143	0.14878	0.25346530868476075	0.25260	0.00395600209074	0.12011	0.423425346613	0.28308	T	0.008884	0.08431	T	-0.532999	0.00369	T	-0.528997	0.19387	T	0.0231104224058204	0.01037	T	0.563244	0.20399	T	0.13163888	0.30677	0.13530593	0.32400	0.13163888	0.30677	0.13530593	0.32399	-2.74	0.11353	T	.	.	0.432	0.61295	A	.;.;.;.;.;.	.;.;.;.;.;.	2.261002	0.28888	17.95	0.9220023961927466	0.21570	0.03696	0.08973	N	ALL	0.131494	0.25046	N	-0.731417821595529	0.15143	0.7605722	-0.561203880842036	0.20508	1.105262	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.61	3.72	0.41857	2.440000	0.44513	3.780000	0.39787	0.676000	0.76740	0.966000	0.33990	0.999000	0.35428	0.998000	0.85391	0.0:0.2283:0.7717:0.0	10.499	0.43983	895	0.25842	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.006793	0.020468	0.000000	0.000000	0.000000	0.007576	0.05	813.43	38	chr18	35497843	.	G	C	813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.796;DP=404;ExcessHet=0;FS=0.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-1.398;SOR=0.512	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr18	36142283	36142283	T	G	exonic	ELP2	.	nonsynonymous SNV	ELP2:NM_001242877:exon6:c.T513G:p.F171L,ELP2:NM_001242878:exon6:c.T513G:p.F171L,ELP2:NM_001324468:exon6:c.T144G:p.F48L,ELP2:NM_001242876:exon7:c.T708G:p.F236L,ELP2:NM_001324465:exon7:c.T591G:p.F197L,ELP2:NM_001324466:exon7:c.T708G:p.F236L,ELP2:NM_001324467:exon7:c.T591G:p.F197L,ELP2:NM_018255:exon7:c.T591G:p.F197L,ELP2:NM_001242875:exon8:c.T786G:p.F262L	Mental retardation, autosomal recessive 58, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0713508645133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.43708	T	0.0	0.92824	D	0.177	0.29860	B	0.137	0.34953	B	0.000006	0.62929	D	0.110187	1	0.81001	D	1.435	0.35949	L	-0.03	0.63077	T	-4.49	0.78046	D	0.624	0.68603	-0.8318	0.53185	T	0.225	0.58932	T	10	0.79805803	0.79250	D	0.071351	0.71246	D	0.176	0.44373	0.792	0.91365	0.735530147054	0.73316	0.2806657595594459	0.27979	0.289761338798	0.31384	0.603861927986	0.53449	T	0.225378	0.59009	T	0.0303436	0.55769	T	-0.19419	0.55196	T	0.989435434341431	0.79671	D	0.865513	0.56452	D	0.2913573	0.52118	0.26689702	0.52541	0.2913573	0.52118	0.26689702	0.52540	-10.939	0.81331	D	0.2430607500841921	0.32923	0.901	0.85176	P	.;.;.;.;.;.	.;.;.;.;.;.	3.064650	0.41174	21.3	0.99764221175143764	0.85335	0.91552	0.53768	D	AEFBI	0.456307	0.50823	N	-0.0584432559306879	0.39226	2.309813	0.0501382868745135	0.42077	2.538915	0.999937062705154	0.46732	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.7	4.54	0.55220	3.523000	0.53243	4.165000	0.42235	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0797:0.0:0.9203	10.097	0.41653	956	0.09877	.;WD40-repeat-containing domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1447.43	37	chr18	36142283	.	T	G	1447.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.521;DP=422;ExcessHet=0;FS=2.631;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=-0.297;SOR=0.464	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	9	0	1	0
chr18	36355611	36355611	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon2:c.C238T:p.R80W,FHOD3:NM_001281740:exon2:c.C238T:p.R80W,FHOD3:NM_025135:exon2:c.C238T:p.R80W	.	.	.	.	.	.	.	.	.	.	.	1289924	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0129592782551	0.0002	.	0.0001	0	0	0	0	0.0003	0	6.066e-05	0.0001423	22	154602	rs199791578	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	5.974e-05	6.708e-05	0.0017	0	0	0	0.0002	0.0001	4.637e-05	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	9.707e-05	0.0002	0.0001	0	0	6.546e-05	0.0020	0	0	0	0.0002	0	0	0.102	0.30515	T	0.004	0.74150	D	1.0	0.90584	D	0.923	0.67262	D	0.000086	0.51296	D	0.125561	0.809879	0.34626	D	1.545	0.39105	L	1.72	0.26588	T	-5.37	0.84882	D	0.726	0.72746	-0.8920	0.48758	T	0.112	0.40075	T	10	0.24238086	0.41433	T	0.012959	0.31981	T	0.201	0.48592	.	.	0.290620346082	0.28682	0.4230178241528686	0.42218	0.680399982641	0.59990	0.753525614738	0.74967	T	0.167645	0.51434	T	-0.167944	0.25545	T	-0.188873	0.55695	T	0.484872579574585	0.32076	T	0.985835	0.95907	D	0.39227214	0.60193	0.3274499	0.58643	0.39227214	0.60193	0.3274499	0.58642	-7.879	0.60352	D	.	.	0.223	0.57987	B	.;.;.	.;.;.	4.765186	0.77079	26.6	0.99931823290973243	0.99387	0.83211	0.42347	D	AEFDBIJ	0.533402	0.55287	D	0.616290011207627	0.74205	6.09318	0.641851382683528	0.78006	6.78997	0.999999999126531	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	6.06	5.16	0.70563	2.698000	0.46736	4.704000	0.44424	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1456:0.8544:0.0:0.0	14.625	0.68214	860	0.33753	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1123.43	39	chr18	36355611	.	C	T	1123.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.383;DP=410;ExcessHet=0;FS=5.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.512;SOR=1.251	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1157	9	0	1	0
chr18	36625569	36625569	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon10:c.G1016A:p.R339Q,FHOD3:NM_001281740:exon10:c.G1016A:p.R339Q,FHOD3:NM_025135:exon10:c.G1016A:p.R339Q	.	415	1104	3	0	0	3	0.00135685	.	.	.	1691541	Cardiomyopathy,_familial_hypertrophic,_28	MONDO:MONDO:0030317,MedGen:C5543616,OMIM:619402	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.0119382311789	.	0.000399361	0.0002	0	8.717e-05	0	0	0	0	0.0022	0.0001746	27	154602	rs545624410	7.198e-05	8.961e-05	5.448e-05	8.999e-05	0.0010	6.026e-05	5.591e-05	0.0008	0.0008	0	8.233e-05	0	2.799e-05	0	0.0007	9.43e-06	7.128e-05	0.0010	3.94e-05	3.937e-05	5.14e-05	2.686e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.014	0.53172	D	0.044	0.53426	D	0.954	0.67487	P	0.308	0.52336	B	0.000010	0.62929	D	0.109671	0.984104	0.25506	N	1.32	0.33002	L	1.73	0.26445	T	-1.77	0.42957	N	0.281	0.33030	-1.0263	0.21658	T	0.064	0.26349	T	10	0.015672743	0.00329	T	0.011938	0.30057	T	0.070	0.20419	0.191	0.10171	0.102598925029	0.09809	0.3083834091754695	0.30751	0.416021963706	0.42244	0.406161308289	0.25926	T	0.017944	0.14550	T	-0.318395	0.07029	T	-0.275681	0.47244	T	0.198446497321129	0.20330	T	0.956404	0.85587	D	0.12848788	0.30038	0.09239054	0.21771	0.12848788	0.30038	0.09239054	0.21771	-8.428	0.63971	D	.	.	0.104	0.21987	B	.;.;.	.;.;.	4.217236	0.63755	24.6	0.99940197949040677	0.99767	0.83711	0.42811	D	AEFDBI	0.257242	0.37600	N	0.393626176853714	0.61076	4.303986	0.469700684946105	0.65990	4.894347	0.999956844652046	0.48110	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.75	4.77	0.60425	4.212000	0.58311	8.562000	0.77571	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.778000	0.36829	0.1841:0.0:0.8159:0.0	5.590	0.16579	832	0.38914	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1534.43	41	chr18	36625569	.	G	A	1534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=591;ExcessHet=0;FS=3.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=1.37;SOR=0.437	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	9	0	1	0
chr18	36625617	36625617	G	A	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon10:c.G1064A:p.R355Q,FHOD3:NM_001281740:exon10:c.G1064A:p.R355Q,FHOD3:NM_025135:exon10:c.G1064A:p.R355Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00465162762275	.	0.000199681	0.0003	0	8.663e-05	0	0	0	0	0.0024	0.0002652	41	154602	rs561334570	0.0001	0.0002	8.141e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0.0002	9.106e-06	8.449e-05	0.0023	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	6.532e-05	0	0	0	0	0	0	0.0012	0.435	0.09401	T	0.244	0.30534	T	0.003	0.13644	B	0.003	0.10090	B	0.002746	0.36001	N	0.269957	0.541281	0.32056	D	1.37	0.34214	L	1.43	0.33842	T	-0.44	0.16598	N	0.17	0.24883	-1.0495	0.14537	T	0.051	0.21572	T	10	0.009750605	0.00219	T	0.004652	0.11534	T	0.063	0.18251	0.46	0.52753	0.0675242888579	0.06100	0.26077761781650166	0.25991	0.186722640128	0.20978	0.23260769248	0.02167	T	0.006197	0.05637	T	-0.380702	0.03085	T	-0.325177	0.42005	T	0.0553591810923854	0.06418	T	0.89721	0.65830	D	0.022878155	0.00983	0.028030286	0.01002	0.022878155	0.00982	0.028030286	0.01002	-4.42	0.39205	T	.	.	0.066	0.03661	B	.;.;.	.;.;.	1.967460	0.24995	16.60	0.99660505941585698	0.77883	0.79822	0.39631	D	AEFBI	0.133685	0.25343	N	-0.495957021488548	0.22212	1.184483	-0.444238626475743	0.23712	1.294603	0.995282927097734	0.34045	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.28	1.14	0.19817	1.975000	0.40192	1.769000	0.28618	-0.107000	0.15377	1.000000	0.71638	0.999000	0.35428	0.335000	0.25317	0.33:0.173:0.497:0.0	4.072	0.09361	832	0.38914	.;.;Rho GTPase-binding/formin homology 3 (GBD/FH3) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	41	chr18	36625617	.	G	A	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.13;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=2.1;SOR=0.686	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1201,0,1329	9	0	1	0
chr18	36718000	36718000	C	T	exonic	FHOD3	.	nonsynonymous SNV	FHOD3:NM_001281739:exon15:c.C2126T:p.A709V,FHOD3:NM_025135:exon16:c.C2177T:p.A726V,FHOD3:NM_001281740:exon19:c.C2702T:p.A901V	.	.	.	.	.	.	.	.	.	.	.	4011070	Cardiovascular_phenotype	MedGen:CN230736	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.048	0.00579109969768	7.7e-05	.	3.377e-05	0	0.0002	0	0	3.034e-05	0	0	3.88e-05	6	154602	rs146524905	3.77e-05	3.967e-05	3.818e-05	3.721e-05	0.0002	2.965e-05	2.661e-05	8.911e-05	6.463e-05	2.989e-05	0.0002	0	0	0	0.0002	3.512e-05	8.302e-05	1.168e-05	2.629e-05	2.627e-05	2.569e-05	2.692e-05	0.0001	8.14e-06	5.14e-06	2.261e-05	9.07e-06	2.413e-05	0	0.0001	0	0	0	0	1.47e-05	0	0	0.068	0.35726	T	0.29	0.21011	T	0.001	0.64738	B	0.002	0.40614	B	0.146252	0.18119	N	0.488061	1	0.08975	N	2.25	0.63811	M	1.54	0.30401	T	-1.34	0.33401	N	0.061	0.03726	-1.0585	0.12134	T	0.107	0.39051	T	10	0.078346014	0.12477	T	0.005791	0.15042	T	0.048	0.13305	.	.	0.246926113748	0.24311	0.21432052352625625	0.21348	0.161166695707	0.18189	0.324776887894	0.14144	T	0.01042	0.09410	T	-0.463008	0.00941	T	-0.605296	0.12371	T	0.0854900479316711	0.10674	T	0.893711	0.63970	D	0.062850885	0.13171	0.09788601	0.23316	0.062850885	0.13171	0.09788601	0.23315	-4.85	0.36004	T	.	.	0.089	0.13032	B	.;.;.	.;.;.	2.671843	0.34836	19.74	0.97709223630835595	0.35483	0.57682	0.30441	D	AEFDBI	0.310499	0.41649	N	-0.185083112960452	0.33754	1.918681	-0.211770350341817	0.31111	1.757751	0.866642591993319	0.25331	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.0	4.13	0.47661	2.930000	0.48618	3.949000	0.40660	0.599000	0.40250	0.420000	0.26330	0.994000	0.32194	0.102000	0.18378	0.1666:0.746:0.0:0.0874	7.327	0.25737	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1317.43	46	chr18	36718000	.	C	T	1317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.667;DP=441;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.51;SOR=0.619	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1088	9	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	558.45	33	chr18	37067196	.	T	C	558.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-6.944;DP=1078;ExcessHet=0.7463;FS=174.631;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.47;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:213,59:272:99:.:.:193,0,4413:.	7	0	3	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	592.8	251	chr18	37067197	.	G	A	592.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-7.587;DP=1619;ExcessHet=1.5895;FS=165.612;InbreedingCoeff=-0.2259;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.5;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1392:.	6	0	4	0
chr18	43273924	43273924	C	T	exonic	SYT4	.	nonsynonymous SNV	SYT4:NM_020783:exon2:c.G505A:p.A169T	.	436	1066	17	3	0	23	0.0106729	.	.	.	741358	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	.	0.00359425	0.0023	9.688e-05	0.0006	0	0	0.0004	0.0022	0.0142	0.001934	299	154602	rs200418581	0.0010	0.0010	0.0006	0.0014	0.0126	0.0010	0.0009	0.0120	0.0118	2.987e-05	0.0011	0.0006	2.521e-05	5.618e-05	0.0068	0.0002	0.0013	0.0126	0.0009	0.0009	0.0006	0.0011	0.0126	0.0007	0.0007	0.0101	0.0092	0.0001	0	0.0022	0.0006	0	0	0.0102	0.0003	0.0033	0.0126	0.088	0.32296	T	0.199	0.27679	T	0.759	0.43487	P	0.193	0.36509	B	0.000001	0.84330	N	0.094256	1	0.81001	D	0.47	0.13106	N	3.17	0.07599	T	-2.6	0.55983	D	0.251	0.28381	-0.8488	0.52051	T	0.012	0.04558	T	10	0.007933378	0.00180	T	.	.	.	0.118	0.32913	.	.	0.33835085245	0.33439	0.5888931291434116	0.58819	0.265606145851	0.29113	0.464711070061	0.33955	T	0.194227	0.54994	T	-0.543455	0.00319	T	-0.541736	0.18126	T	0.0338073278630554	0.02604	T	0.774123	0.42343	T	0.23277618	0.46070	0.2432143	0.49760	0.23277618	0.46070	0.2432143	0.49758	-7.445	0.57222	T	.	.	0.377	0.69653	A	.;.	.;.	2.924898	0.38838	20.8	0.97077810241835594	0.32268	0.95618	0.65444	D	AEFBI	.	.	.	-0.280176094789357	0.29914	1.663	-0.155317752507187	0.33205	1.896954	0.0100621963047524	0.11960	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.87	3.16	0.35406	3.214000	0.50863	1.791000	0.28799	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.8085:0.0:0.1915	11.714	0.50907	801	0.44448	Synaptotagmin|C2 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004532	0.000000	0.002717	0.008772	0.000000	0.008621	0.003049	0.003788	0.05	1044.43	35	chr18	43273924	.	C	T	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.366;DP=392;ExcessHet=0;FS=4.223;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.143;SOR=0.343	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	9	0	1	0
chr18	45663865	45663865	G	A	exonic	SLC14A2	.	nonsynonymous SNV	SLC14A2:NM_007163:exon11:c.G1432A:p.V478I,SLC14A2:NM_001242692:exon12:c.G1432A:p.V478I,SLC14A2:NM_001371319:exon15:c.G1432A:p.V478I	.	399	1122	1	0	0	1	0.000445434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0076056943464	0.0018	.	0.0014	0.0001	0.0013	0	0.0005	0.0020	0	0.0011	0.0014553	225	154602	rs150313115	0.0024	0.0024	0.0025	0.0023	0.0028	0.0023	0.0023	0.0027	0.0027	0.0003	0.0008	0.0016	0	0.0003	0.0007	0.0028	0.0023	0.0012	0.0014	0.0014	0.0016	0.0013	0.0028	0.0013	0.0012	0.0024	0.0023	0.0003	0	0.0004	0.0012	0	0	0	0.0028	0.0009	0.0008	0.06	0.37326	T	0.354	0.17268	T	0.005	0.12996	B	0.005	0.11217	B	0.271488	0.15119	N	0.629214	0.887842	0.27935	N	2.295	0.65404	M	1.29	0.35775	T	-0.02	0.07299	N	0.214	0.23884	-1.0359	0.18575	T	0.090	0.34683	T	10	0.014525443	0.00305	T	0.007606	0.20192	T	0.069	0.20116	.	.	0.0551355673512	0.04727	0.4659877895542462	0.46517	0.167689513179	0.18908	0.34398496151	0.17033	T	0.144645	0.48138	T	-0.527335	0.00398	T	-0.533935	0.18895	T	0.0195424297055923	0.00658	T	.	.	.	0.0354843	0.04184	0.054159045	0.09262	0.0354843	0.04184	0.054159045	0.09261	-3.507	0.16529	T	.	.	0.081	0.08081	B	.;.	.;.	2.761019	0.36214	20.2	0.99739897002858979	0.83409	0.73877	0.36135	D	AEFBI	0.158108	0.28372	N	-0.061269694468375	0.39100	2.300471	0.0537772868847524	0.42254	2.552615	0.999835688219983	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.52	4.46	0.53567	2.894000	0.48339	8.432000	0.77174	-0.108000	0.15293	0.995000	0.38783	1.000000	0.68203	0.098000	0.18187	0.1054:0.0:0.8946:0.0	10.126	0.41823	971	0.05719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	715.43	35	chr18	45663865	.	G	A	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.473;DP=370;ExcessHet=0;FS=2.175;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=0.48;SOR=0.906	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	9	0	1	0
chr18	45837719	45837719	G	A	exonic	SIGLEC15	.	nonsynonymous SNV	SIGLEC15:NM_213602:exon3:c.G319A:p.A107T	.	427	1063	30	2	0	34	0.0157407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	.	.	0.00299521	0.0204	0	0.0342	0	0.125	0.0092	0.0319	0.0248	0.0023738	367	154602	rs62095363	0.0037	0.0036	0.0032	0.0042	0.0191	0.0036	0.0036	0.0183	0.0180	0.0003	0.0010	0.0080	0	0.0010	0.0090	0.0028	0.0038	0.0191	0.0028	0.0028	0.0028	0.0028	0.0190	0.0026	0.0025	0.0159	0.0147	0.0007	0	0.0012	0.0078	0	0.0003	0.0034	0.0036	0.0052	0.0190	0.515	0.07378	T	0.324	0.18903	T	0.062	0.23277	B	0.033	0.22329	B	0.033438	0.24899	N	0.377486	1	0.24643	N	-0.28	0.03718	N	-0.02	0.62918	T	-0.07	0.08033	N	0.093	0.07262	-1.0649	0.10572	T	0.063	0.26208	T	10	0.0019133389	0.00026	T	.	.	.	0.089	0.25827	.	.	0.468504517574	0.46476	0.34350939334654673	0.34263	0.492210877652	0.47877	0.825304865837	0.85843	D	0.001769	0.01195	T	-0.583491	0.00184	T	-0.594664	0.13264	T	0.0102953173564013	0.00140	T	0.507849	0.16117	T	0.05689249	0.11252	0.07087038	0.15110	0.05689249	0.11252	0.07087038	0.15110	-6.549	0.50663	T	.	.	0.085	0.10304	B	.	.	3.451763	0.48069	22.6	0.98895844859401605	0.48091	0.21767	0.21517	N	AEFDBHCIJ	0.116215	0.22818	N	-0.629701454152184	0.18055	0.9343636	-0.501972471921448	0.22099	1.198679	0.999999995230794	0.74766	0.55562	0.30534	0	0.68496	0.65989	0	0.606814	0.37721	0	0.765457	0.99879	0	.	.	3.55	2.66	0.30672	1.703000	0.37465	8.228000	0.76834	0.590000	0.31872	0.012000	0.18695	1.000000	0.68203	0.990000	0.65344	0.2953:0.0:0.7046:0.0	6.395	0.20808	977	0.04225	Immunoglobulin V-set domain|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011339	0.000000	0.005865	0.006369	0.055556	0.008929	0.019868	0.031496	0.05	633.43	36	chr18	45837719	.	G	A	633.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=-0.829;SOR=0.77	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1059	9	0	1	0
chr18	46240073	46240073	G	A	exonic	C18orf25	.	nonsynonymous SNV	C18orf25:NM_145055:exon3:c.G784A:p.D262N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00601378408792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.37310	T	0.728	0.42542	P	0.346	0.42645	B	0.000003	0.62929	D	0.101468	0.997918	0.81001	D	1.79	0.46772	L	.	.	.	.	.	.	0.679	0.68603	-0.8202	0.53921	T	0.161	0.49581	T	9	0.4463662	0.58422	T	0.006014	0.15698	T	.	.	0.38	0.39645	0.134007934775	0.12933	0.2153016546476291	0.21446	.	.	.	.	.	0.029891	0.21315	T	-0.0775697	0.40108	T	-0.3492	0.39297	T	0.70624303817749	0.41018	D	0.891811	0.62701	D	0.2797932	0.51029	0.28083086	0.54061	0.2797932	0.51028	0.28083086	0.54060	-4.486	0.30705	T	.	.	0.104	0.18950	B	.	.	4.220875	0.63840	24.6	0.99714486759230658	0.81563	0.94905	0.62737	D	AEFGBI	0.637919	0.61652	D	0.414078563030535	0.62197	4.431631	0.532581244434388	0.70194	5.469631	0.999999984624883	0.74766	0.653281	0.48532	0	0.653731	0.59785	0	0.675528	0.61593	0	0.664235	0.64389	0	.	.	5.76	5.76	0.90726	5.325000	0.65649	9.910000	0.82419	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.138:0.862:0.0	15.455	0.75037	960	0.08626	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1200.43	33	chr18	46240073	.	G	A	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=399;ExcessHet=0;FS=2.756;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.478;SOR=1.075	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1038	9	0	1	0
chr18	46533293	46533293	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001308013:exon8:c.G623A:p.R208Q,LOXHD1:NM_001145472:exon10:c.G911A:p.R304Q,LOXHD1:NM_001384474:exon28:c.G4244A:p.R1415Q,LOXHD1:NM_144612:exon28:c.G4244A:p.R1415Q	Deafness, autosomal recessive 77, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	756467	not_provided|LOXHD1-related_disorder|Inborn_genetic_diseases|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.422	0.0773955985352	0.0007	0.000399361	0.0003	0.0025	0	0	0	0	0	0	7.76e-05	12	154602	rs374728484	6.645e-05	6.362e-05	6.627e-05	6.664e-05	0.0023	5.53e-05	5.129e-05	0.0019	0.0017	0.0023	0.0001	0	8.394e-05	0	0	1.854e-06	0.0002	0	0.0007	0.0007	0.0006	0.0008	0.0024	0.0006	0.0005	0.0020	0.0018	0.0024	0	0.0003	0	0	0	0	0	0.0009	0.0002	0.018	0.58626	D	0.008	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.003714	0.34585	N	0.296966	0.996829	0.43441	D	.	.	.	-0.16	0.65378	T	-3.04	0.62863	D	0.479	0.54671	-0.2249	0.77021	T	0.431	0.77251	T	10	0.042151928	0.02938	T	0.077396	0.72761	D	0.422	0.73078	.	.	0.350088858571	0.34617	0.7385305804961996	0.73798	.	.	0.593587875366	0.52000	T	0.06482	0.32531	T	-0.310801	0.07679	T	-0.225079	0.52247	T	0.179427893704415	0.19199	T	0.963904	0.92384	D	0.14613418	0.33468	0.17977802	0.40734	0.14613418	0.33467	0.17977802	0.40733	-11.234	0.80925	D	.	.	0.301	0.59398	B	.;.;.;.;.;.	.;.;.;.;.;.	5.267804	0.88451	29.6	0.99298319788728595	0.58541	0.95188	0.63763	D	AEFBI	0.777791	0.71049	D	0.735772273073473	0.81976	7.650053	0.705401688450861	0.82790	7.854872	0.999821045946097	0.43622	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	5.824000	0.68964	7.631000	0.62734	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.9254:0.0:0.0746	13.624	0.61621	946	0.12043	PLAT/LH2 domain|PLAT/LH2 domain;.;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1353.43	33	chr18	46533293	.	C	T	1353.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.119;DP=415;ExcessHet=0;FS=2.625;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.435;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1173	9	0	1	0
chr18	46592025	46592025	T	C	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001384474:exon12:c.A1562G:p.N521S,LOXHD1:NM_144612:exon12:c.A1562G:p.N521S	Deafness, autosomal recessive 77, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	1514212	Autosomal_recessive_nonsyndromic_hearing_loss_77|not_specified|not_provided	MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00938406953772	.	.	4.192e-05	0	0	0	0	0.0001	0	0	1.29e-05	2	154602	rs556312555	4.643e-05	4.446e-05	5.074e-05	4.2e-05	0.0004	3.733e-05	3.401e-05	9.627e-05	7.623e-05	3.165e-05	5.601e-05	0	0	0	0.0004	4.263e-05	1.719e-05	0.0002	3.942e-05	3.94e-05	1.285e-05	6.723e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.349e-05	0	0	0.349	0.12345	T	0.285	0.21343	T	0.372	0.34134	B	0.083	0.29179	B	0.009605	0.30282	N	0.349882	0.991833	0.23976	N	.	.	.	-0.01	0.62762	T	-1.67	0.39887	N	0.309	0.34874	-0.9299	0.44153	T	0.148	0.47451	T	10	0.27571225	0.45131	T	0.009384	0.24600	T	0.112	0.31546	0.594	0.72371	0.1749357433	0.17121	0.21887134088810448	0.21803	.	.	0.397155761719	0.24673	T	.	.	.	-0.346565	0.04946	T	-0.439401	0.28876	T	0.0537868254201606	0.06152	T	0.878312	0.59782	D	0.09839408	0.23207	0.17584577	0.40078	0.084497586	0.19560	0.18354107	0.41349	-3.942	0.22933	T	.	.	0.095	0.14979	B	.;.;.	.;.;.	2.281690	0.29178	18.04	0.95679221224961231	0.27536	0.91654	0.53980	D	AEFDGBI	0.447924	0.50337	N	0.0340080657684986	0.43408	2.634307	0.224138781229668	0.51191	3.303715	0.999996580645464	0.74766	0.500041	0.20204	0	0.563428	0.19063	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	6.06	6.06	0.98340	4.407000	0.59512	2.826000	0.34993	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.184	0.72667	798	0.45050	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain;PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1534.43	150	chr18	46592025	.	T	C	1534.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.262;DP=485;ExcessHet=0;FS=2.059;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=1.46;SOR=0.524	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1125	9	0	1	0
chr18	49962319	49962319	C	G	exonic	MYO5B	.	nonsynonymous SNV	MYO5B:NM_001080467:exon12:c.G1492C:p.D498H	Microvillus inclusion disease, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.796	0.114853419778	.	.	8.283e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs200175136	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.051	0.47828	T	0.987	0.61912	D	0.856	0.61001	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.47	0.71715	M	-2.67	0.90332	D	-4.65	0.79399	D	0.812	0.80767	0.957	0.96495	D	0.873	0.95779	D	10	0.9055432	0.89918	D	0.114853	0.79385	D	0.796	0.93306	0.749	0.87988	0.960864856233	0.96044	0.7907087408859507	0.79022	0.701343491077	0.61143	0.837810695171	0.87760	D	0.812171	0.95318	D	0.407216	0.90327	D	0.347161	0.90205	D	0.975379288196564	0.70906	D	0.90391	0.66280	D	0.8933113	0.90793	0.84521174	0.91184	0.8933113	0.90794	0.84521174	0.91184	-12.985	0.89302	D	0.7044267611928188	0.78383	0.746	0.74896	P	.	.	4.971387	0.82278	27.7	0.99557002112526738	0.71521	0.93835	0.59328	D	AEFGBI	0.719100	0.67009	D	0.657582752391225	0.76862	6.564988	0.624285382013282	0.76708	6.541034	0.999999816573192	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	2.186000	0.42224	5.984000	0.52218	0.599000	0.40250	0.952000	0.33172	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.173	0.93571	953	0.10115	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class V myosin, motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1227.43	34	chr18	49962319	.	C	G	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=438;ExcessHet=0;FS=3.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.218;SOR=0.762	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1239,0,1180	9	0	1	0
chr18	50729657	50729657	C	T	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.C934T:p.P312S,MAPK4:NM_002747:exon6:c.C1567T:p.P523S	.	368	1152	2	0	0	2	0.000867303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0769248881832	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1261055141	7.298e-06	7.525e-06	7.2e-06	7.4e-06	0.0007	3.69e-06	2.69e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	8.001e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21467	T	0.159	0.31527	T	0.004	0.12183	B	0.003	0.08700	B	0.729747	0.09865	U	0.805472	0.999981	0.24005	N	0.345	0.11182	N	-0.47	0.70133	T	0.17	0.05810	N	0.088	0.16028	-0.9777	0.35526	T	0.146	0.47111	T	10	0.078787506	0.12599	T	0.076925	0.72647	D	0.061	0.17616	0.14	0.04369	0.651728555758	0.64883	0.28378989775089536	0.28291	0.598347336993	0.55009	0.529507696629	0.42964	T	0.010642	0.09586	T	-0.257883	0.13150	T	-0.466673	0.25875	T	0.0609492796593152	0.07318	T	0.483852	0.14720	T	0.044144493	0.07004	0.041486688	0.04725	0.044144493	0.07003	0.041486688	0.04724	-3.433	0.15504	T	.	.	0.067	0.03372	B	.;.	.;.	1.691932	0.21554	15.25	0.67964079602389016	0.08513	0.85605	0.44755	D	AEFDBI	0.196546	0.32351	N	-0.699736918773551	0.16030	0.8131146	-0.620997432857088	0.18954	1.014857	0.0162486238041506	0.12809	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	4.97	3.17	0.35510	2.781000	0.47437	0.951000	0.22923	0.520000	0.23804	0.987000	0.36337	0.001000	0.17328	0.023000	0.12082	0.156:0.6099:0.1509:0.0833	4.691	0.12163	734	0.53889	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001073	0.000000	0.002941	0.003086	0.000000	0.000000	0.000000	0.000000	0.05	1272.43	36	chr18	50729657	.	C	T	1272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.373;DP=389;ExcessHet=0;FS=2.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.67;ReadPosRankSum=0.55;SOR=0.438	GT:AD:DP:GQ:PL	0/1:23,49:72:99:1284,0,467	9	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	966.14	144	chr18	51177112	.	A	G	966.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.834;DP=781;ExcessHet=0.2348;FS=197.103;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.07;ReadPosRankSum=2.75;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1095:.	8	0	2	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	542.14	138	chr18	51177115	.	C	T	542.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.501;DP=927;ExcessHet=0.2348;FS=171.228;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=2.28;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:118,0:118:99:.:.:0,120,1800:.	8	0	2	0
chr18	51177121	51177121	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210A:p.E404K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0122661931489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.021	0.58089	D	0.979	0.59044	D	0.501	0.47677	P	0.000001	0.62929	D	0.098325	0.999904	0.50806	D	2.325	0.66631	M	0.98	0.42122	T	-3.19	0.64593	D	0.32	0.36043	-0.9494	0.41075	T	0.141	0.46202	T	10	0.28042933	0.45618	T	0.012266	0.30692	T	0.170	0.43303	0.553	0.66995	0.510982393985	0.50737	.	.	1.71487367527	0.90482	0.764943540096	0.76666	T	0.369304	0.73404	T	0.0264276	0.55246	T	-0.199815	0.54664	T	0.925537884235382	0.58731	D	0.986501	0.95398	D	0.38318136	0.59546	0.3377756	0.59564	0.38318136	0.59546	0.3377756	0.59563	-13.877	0.92651	D	.	.	0.622	0.70077	P	.;.	.;.	5.385764	0.90245	31	0.99905138994392295	0.97576	0.94671	0.61932	D	AEFBI	0.339062	0.43633	N	0.581503911233906	0.72020	5.740569	0.646825649859684	0.78374	6.863556	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	493.43	37	chr18	51177121	.	C	T	493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.365;DP=503;ExcessHet=0;FS=75.161;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.74;ReadPosRankSum=0.88;SOR=6.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr18	53157503	53157503	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon8:c.G1409A:p.G470D	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	1	1516	5	0	0	5	0.00164636	.	.	.	185695	not_provided|Amenorrhea|Mirror_movements_1	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000141,MONDO:MONDO:0001836,MedGen:C0002453|MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.0186963007183	0.0046	0.000798722	0.0032	0.0008	0.0010	0.0001	0.0021	0.0052	0.0066	6.061e-05	0.0032276	499	154602	rs141813053	0.0043	0.0043	0.0045	0.0042	0.0052	0.0042	0.0042	0.0051	0.0051	0.0007	0.0012	0.0008	2.519e-05	0.0023	0.0031	0.0052	0.0041	0.0001	0.0029	0.0029	0.0032	0.0027	0.0052	0.0027	0.0026	0.0047	0.0046	0.0010	0	0.0014	0	0	0.0022	0.0034	0.0052	0.0024	0.0010	0.001	0.78490	D	0.003	0.76473	D	0.72	0.42342	P	0.775	0.57058	P	0.000001	0.84330	D	0.000000	0.999916	0.53665	D	1.74	0.45129	L	0.39	0.57419	T	-4.79	0.80595	D	0.662	0.69825	-0.6421	0.63056	T	0.230	0.59521	T	10	0.009430081	0.00213	T	0.018696	0.40848	T	0.344	0.66582	.	.	0.819190257506	0.81748	0.49064139777321825	0.48984	0.271221807874	0.29642	0.600528478622	0.52979	T	0.355735	0.72269	T	-0.116387	0.33715	T	0.0630708	0.74449	D	0.0460880255931831	0.04800	T	0.948305	0.80601	D	0.8650983	0.88477	0.88993573	0.94262	0.854984	0.87708	0.9052229	0.95349	-8.518	0.64548	D	.	.	0.245	0.47976	B	.;.;.	.;.;.	4.364282	0.67135	25.1	0.9731862044675279	0.33365	0.98425	0.82644	D	AEFI	0.866774	0.78631	D	0.380686620629782	0.60376	4.225858	0.484920809019952	0.66990	5.024568	0.999012098707405	0.38212	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.4	5.4	0.77957	7.294000	0.78101	9.919000	0.82489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.966	0.89020	643	0.63827	Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Immunoglobulin subtype|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1661.43	33	chr18	53157503	.	G	A	1661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.675;DP=457;ExcessHet=0;FS=4.32;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=1.65;SOR=0.414	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1400	9	0	1	0
chr18	54361983	54361985	TAA	-	exonic	C18orf54	.	nonframeshift deletion	C18orf54:NM_001370309:exon3:c.624_626del:p.N210del,C18orf54:NM_001288980:exon4:c.624_626del:p.N210del,C18orf54:NM_001288981:exon4:c.624_626del:p.N210del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339457	0.0022	0	0	0.0001	0	1.748e-05	0.0012	0.0155	0.0016429	254	154602	rs577971817	0.0008	0.0008	0.0005	0.0011	0.0125	0.0007	0.0007	0.0118	0.0116	2.988e-05	0	0	5.045e-05	0	0	8.096e-06	0.0008	0.0125	0.0004	0.0004	0.0002	0.0006	0.0127	0.0003	0.0003	0.0101	0.0092	0	0	0	0	0	0	0	0	0	0.0127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	3036.39	34	chr18	54361982	.	CTAA	C	3036.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.547;DP=498;ExcessHet=0;FS=0.581;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=-1.676;SOR=0.774	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1138	9	0	1	0
chr18	54936933	54936933	G	A	exonic	CCDC68	.	nonsynonymous SNV	CCDC68:NM_001143829:exon6:c.C371T:p.A124V,CCDC68:NM_025214:exon6:c.C371T:p.A124V	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0223508631609	.	.	8.239e-06	0	0	0	0	0	0.0011	0	6.5e-06	1	154602	rs759606240	6.157e-06	6.156e-06	4.084e-06	8.251e-06	0.0003	2.9e-06	2.1e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	3.312e-05	4.638e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.152	0.32249	T	1.0	0.90584	D	0.999	0.92359	D	0.000007	0.62929	D	0.000000	0.99453	0.42318	D	2.78	0.81115	M	0.75	0.50192	T	-3.28	0.65627	D	0.392	0.43320	-0.5666	0.66150	T	0.309	0.67967	T	10	0.4467377	0.58444	T	0.022351	0.45230	T	0.226	0.52472	0.179	0.08626	0.564986160551	0.56162	0.40386311393440577	0.40302	0.186650198017	0.20973	0.450941056013	0.32073	T	0.036477	0.24118	T	-0.138292	0.30163	T	-0.254896	0.49333	T	0.886937763460279	0.53739	D	0.759324	0.38363	T	0.5604223	0.70533	0.5035192	0.71301	0.5604223	0.70534	0.5035192	0.71301	-5.328	0.40219	T	.	.	0.195	0.41977	B	.;.;.	.;.;.	4.262302	0.64784	24.7	0.99910604401030934	0.98022	0.92014	0.54755	D	AEFGBI	0.754317	0.69423	D	0.765463030623623	0.83906	8.142234	0.742897468423255	0.85625	8.63692	0.999999781496608	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.53	5.53	0.82530	3.841000	0.55557	9.957000	0.82769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	16.736	0.85306	756	0.51065	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	774.43	34	chr18	54936933	.	G	A	774.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.729;DP=391;ExcessHet=0;FS=0.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.464;SOR=0.891	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr18	58579253	58579253	A	G	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.T1523C:p.M508T	.	426	1095	1	0	0	1	0.000456413	.	.	.	3448642	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00911311370784	.	.	8.239e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs771346367	2.736e-06	2.736e-06	0	5.5e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.20002	T	0.192	0.28300	T	0.037	0.20876	B	0.004	0.10090	B	0.370640	0.04360	N	1.414480	1	0.08975	N	1.5	0.37844	L	1.01	0.41058	T	-1.38	0.34198	N	0.148	0.15046	-1.0563	0.12698	T	0.064	0.26667	T	10	0.04836282	0.04276	T	0.009113	0.23965	T	0.087	0.25287	0.201	0.11522	0.241664281697	0.23763	0.1381398356559239	0.13737	0.111227701114	0.12544	0.254994153976	0.04312	T	0.006091	0.05528	T	-0.28498	0.10146	T	-0.465603	0.25992	T	0.0603064931929111	0.07217	T	0.289271	0.05243	T	0.09846204	0.23224	0.14261323	0.33920	0.09846204	0.23224	0.14261323	0.33919	-2.038	0.03327	T	.	.	0.184	0.39881	B	.	.	-0.158430	0.03310	0.575	0.46262098907248439	0.03692	0.03449	0.08593	N	ALL	0.077237	0.15556	N	-1.09443692211684	0.06745	0.3113777	-1.15994908556816	0.06592	0.317772	0.999999999923523	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.58	-3.6	0.04277	-0.010000	0.12681	0.512000	0.19089	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2639:0.2713:0.3563:0.1085	2.785	0.05043	938	0.14419	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3162.43	129	chr18	58579253	.	A	G	3162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=1012;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.09;SOR=0.6	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	9	0	1	0
chr18	59225572	59225572	T	G	exonic	GRP	.	nonsynonymous SNV	GRP:NM_001012512:exon2:c.T220G:p.Y74D,GRP:NM_001012513:exon2:c.T220G:p.Y74D,GRP:NM_002091:exon2:c.T220G:p.Y74D	.	434	1083	5	0	0	5	0.00230309	.	.	.	2350375	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00674750783151	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.058e-05	0.0001229	19	154602	rs374866055	0.0001	0.0001	0.0001	0.0001	0.0042	9.536e-05	9.016e-05	0.0029	0.0024	0	4.472e-05	0.0026	0	0	0.0042	2.788e-05	0.0003	0.0002	8.547e-05	8.534e-05	0.0001	6.725e-05	0.0002	4.96e-05	3.965e-05	.	.	2.409e-05	0	6.547e-05	0.0020	0	0	0.0068	0	0.0005	0.0002	0.088	0.33585	T	0.018	0.61642	D	0.012	0.18474	B	0.009	0.19346	B	0.955312	0.08260	N	0.976842	1	0.08975	N	1.465	0.36909	L	1.3	0.35590	T	-5.71	0.87457	D	0.332	0.39760	-0.9607	0.39050	T	0.064	0.26632	T	10	0.01652065	0.00349	T	0.006748	0.17840	T	0.163	0.42028	.	.	0.297031009988	0.29315	0.4948388366197035	0.49404	0.312340773906	0.33537	0.368663668633	0.20640	T	0.373304	0.73732	T	-0.317592	0.07096	T	-0.434297	0.29448	T	0.046915277838707	0.04949	T	0.522748	0.17058	T	0.11569133	0.27297	0.2409287	0.49478	0.11569133	0.27296	0.2409287	0.49477	-2.939	0.13302	T	.	.	0.175	0.38336	B	.;.;.	.;.;.	0.833389	0.12048	8.604	0.7945276910553063	0.12748	0.04476	0.10088	N	AEFDBI	0.072157	0.14391	N	-1.0141051000883	0.08310	0.3892169	-1.13274943323984	0.07081	0.3431496	0.965595431093013	0.28842	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.03	-4.47	0.03278	0.362000	0.20020	-1.524000	0.05246	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.073000	0.16832	0.1265:0.2286:0.261:0.3839	1.182	0.01734	887	0.27948	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	863.43	33	chr18	59225572	.	T	G	863.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.735;DP=391;ExcessHet=0;FS=2.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.66;ReadPosRankSum=1.31;SOR=0.815	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,966	9	0	1	0
chr18	59900287	59900287	G	A	exonic	PMAIP1	.	nonsynonymous SNV	PMAIP1:NM_001382617:exon1:c.G110A:p.R37Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs925026884	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	307.49	25	chr18	59900287	.	G	A	307.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=199;ExcessHet=0;FS=0;InbreedingCoeff=-0.0576;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=1.29;SOR=1.085	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	9	0	1	0
chr18	62895898	62895898	A	C	exonic	PHLPP1	.	nonsynonymous SNV	PHLPP1:NM_194449:exon6:c.A2331C:p.E777D	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00921952939623	0.0049	0.00119808	0.0041	0.0012	0.0023	0	0.0006	0.0067	0.0011	0.0003	0.0041332	639	154602	rs112206318	0.0046	0.0046	0.0047	0.0045	0.0050	0.0045	0.0045	0.0049	0.0048	0.0008	0.0027	0.0250	0	0.0009	0.0049	0.0050	0.0051	0.0002	0.0038	0.0038	0.0040	0.0036	0.0053	0.0035	0.0034	0.0048	0.0046	0.0008	0.0230	0.0037	0.0222	0	0.0011	0.0102	0.0053	0.0076	0	0.227	0.18498	T	0.4	0.15010	T	0.304	0.32663	B	0.096	0.30313	B	.	.	.	.	0.940525	0.26805	N	0.58	0.15352	N	1.79	0.25509	T	-0.82	0.22508	N	0.179	0.19325	-1.0005	0.29774	T	0.023	0.09878	T	9	0.006659955	0.00151	T	0.00922	0.24225	T	0.010	0.01040	0.39	0.41279	0.110392049598	0.10638	0.2569646249391286	0.25610	0.304468408288	0.32754	0.316565811634	0.12901	T	0.108052	0.42077	T	-0.583012	0.00185	T	-0.605105	0.12385	T	0.0065710510570949	0.00073	T	0.720728	0.33361	T	0.08035627	0.18408	0.07458776	0.16333	0.08035627	0.18408	0.07458776	0.16332	-5.035	0.37218	T	.	.	0.104	0.18910	B	.	.	1.631356	0.20829	14.93	0.98761874788161219	0.45831	0.81546	0.40928	D	AEFGBI	0.305918	0.41321	N	-0.583447532344961	0.19448	1.017905	-0.445745247042492	0.23669	1.292022	0.958021093377469	0.28338	0.661447	0.50134	0	0.633656	0.55848	0	0.644132	0.48003	0	0.655142	0.61905	0	.	.	5.07	2.32	0.27895	0.556000	0.23144	2.497000	0.33011	-0.137000	0.12594	0.996000	0.39380	1.000000	0.68203	0.832000	0.39227	0.4039:0.0:0.5961:0.0	8.026	0.29601	986	0.02773	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1670.43	35	chr18	62895898	.	A	C	1670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.783;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.133;SOR=0.668	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr18	63351009	63351009	C	T	exonic	KDSR	.	nonsynonymous SNV	KDSR:NM_002035:exon6:c.G488A:p.R163H	Lymphoma/leukemia, B-cell, variant (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.684	0.139069495198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1374415594	9.585e-06	9.578e-06	6.813e-06	1.238e-05	1.08e-05	5.56e-06	4.35e-06	5.76e-06	4.55e-06	0	0	0	0	1.872e-05	0	1.08e-05	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.029	0.54541	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.046294	1	0.81001	D	2.2	0.62015	M	-2.67	0.90332	D	-3.43	0.67359	D	0.81	0.80572	0.790	0.94283	D	0.841	0.94677	D	10	0.7782662	0.77638	D	0.139069	0.82155	D	0.684	0.88443	0.51	0.60693	0.871323320213	0.87007	0.8418157764441112	0.84141	1.10155356664	0.77751	0.823471665382	0.85561	D	0.797789	0.94811	D	0.264549	0.79947	D	0.14223	0.79689	D	0.976192653179169	0.71270	D	0.960404	0.86020	D	0.29960656	0.52870	0.23007621	0.48099	0.29960656	0.52869	0.23007621	0.48098	-11.488	0.82267	D	.	.	0.500	0.64577	A	.;.;.	.;.;.	5.526542	0.91831	32	0.999543220592641	0.99963	0.98996	0.89714	D	AEFBI	0.942472	0.94711	D	0.8860537270378	0.91059	10.69594	0.887143920921449	0.94988	13.21234	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	7.905000	0.86479	7.605000	0.61698	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.393	0.98966	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	210.43	34	chr18	63351009	.	C	T	210.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.84;DP=432;ExcessHet=0;FS=105.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=2.49;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1110:.	9	0	1	0
chr18	63655736	63655736	C	A	exonic	SERPINB3	.	nonsynonymous SNV	SERPINB3:NM_006919:exon8:c.G1094T:p.C365F	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.0680666691362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs769288329	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.519e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.519e-05	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.059787	0.22297	N	0.324668	0.985473	0.24707	N	1.115	0.28702	L	-1.43	0.80730	T	-9.14	0.98205	D	0.16	0.19325	-0.5200	0.67914	T	0.483	0.80260	T	10	0.7667825	0.76766	D	0.068067	0.70345	D	0.341	0.66297	0.761	0.88972	0.841184084333	0.83966	0.602305111425158	0.60161	0.225417381781	0.25083	0.343318462372	0.16933	T	0.384897	0.74642	T	-0.0919597	0.37752	T	-0.200742	0.54576	T	0.966641306877136	0.67650	D	0.866213	0.79487	D	0.8796616	0.89639	0.80530673	0.88603	0.8796616	0.89640	0.80530673	0.88603	-9.743	0.72359	D	.	.	0.809	0.77698	P	.;.	.;.	2.959829	0.39413	21.0	0.98471048900146796	0.41861	0.31278	0.24297	N	AEFGHCI	0.158365	0.28401	N	-0.0988808927893998	0.37440	2.178344	-0.283346498354853	0.28647	1.598854	0.0102414048378568	0.11992	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	2.05	0.25860	1.227000	0.32179	-20.000000	0.00162	0.410000	0.20643	0.260000	0.24949	0.000000	0.08366	0.960000	0.51673	0.3358:0.3501:0.3141:0.0	5.904	0.18227	966	0.07191	Serpin domain|Serpin, conserved site|Serpin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1282.43	61	chr18	63655736	.	C	A	1282.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.705;DP=538;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=0.395;SOR=0.546	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,108,1243	9	0	1	0
chr18	63656931	63656931	G	C	exonic	SERPINB3	.	nonsynonymous SNV	SERPINB3:NM_006919:exon7:c.C668G:p.S223W	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.0778688777569	.	.	3.306e-05	0	0	0	0	6.007e-05	0	0	2.59e-05	4	154602	rs151099886	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.699e-06	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.05	0.39575	D	0.069	0.43913	T	0.896	0.49324	P	0.696	0.54017	P	0.815809	0.09216	N	0.887814	1	0.08975	N	2.425	0.70256	M	-1.9	0.84628	D	-1.48	0.36189	N	0.399	0.43995	-0.3906	0.72323	T	0.535	0.82815	D	10	0.4725989	0.59953	T	0.077869	0.72872	D	0.399	0.71321	0.674	0.81200	0.523444149082	0.51990	0.720060882845045	0.71949	0.153926028674	0.17371	0.264727532864	0.05467	T	0.147116	0.48505	T	-0.166844	0.25713	T	-0.346985	0.39549	T	0.350385278463364	0.27034	T	0.281772	0.04941	T	0.20792913	0.43013	0.16698062	0.38547	0.20792913	0.43013	0.16698062	0.38546	-6.377	0.49330	T	.	.	0.192	0.41078	B	.	.	0.180341	0.05678	2.127	0.93619564988064286	0.23487	0.03756	0.09064	N	AEFGCI	0.072671	0.14510	N	-0.92029509825457	0.10368	0.4951152	-1.25235199752494	0.05096	0.2420187	6.1420941389491E-4	0.07460	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.64	-5.29	0.02535	-3.376000	0.00546	-4.461000	0.02144	-0.353000	0.05553	0.000000	0.06391	0.000000	0.08366	0.389000	0.26536	0.3088:0.1219:0.3277:0.2416	0.977	0.01337	966	0.07191	Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2114.43	39	chr18	63656931	.	G	C	2114.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.05;DP=508;ExcessHet=0;FS=6.231;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.048;SOR=1.023	GT:AD:DP:GQ:PL	0/1:88,95:183:99:2126,0,1874	9	0	1	0
chr18	63987019	63987019	T	C	exonic	SERPINB8	.	nonsynonymous SNV	SERPINB8:NM_001348370:exon5:c.T326C:p.I109T,SERPINB8:NM_001276490:exon6:c.T320C:p.I107T,SERPINB8:NM_001366198:exon7:c.T866C:p.I289T,SERPINB8:NM_002640:exon7:c.T866C:p.I289T,SERPINB8:NM_198833:exon7:c.T866C:p.I289T	Peeling skin syndrome 5, Autosomal recessive	423	1098	0	1	0	2	0.000909918	.	.	.	2274192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.202	0.0209079919901	.	.	4.118e-05	0	8.64e-05	0	0	2.997e-05	0	0.0001	3.23e-05	5	154602	rs771466710	9.577e-06	9.577e-06	1.089e-05	8.25e-06	0.0002	5.56e-06	4.35e-06	0.0001	7.816e-05	0	0.0002	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.169176	0.17426	N	0.652062	1	0.08975	N	-2.025	0.00183	N	-1.65	0.82625	D	0.18	0.05035	N	0.025	0.00825	-0.8440	0.52379	T	0.120	0.41886	T	10	0.03254801	0.01409	T	0.020908	0.43593	T	0.202	0.48754	0.467	0.53891	0.470566500458	0.46685	0.3240759160774431	0.32320	0.0155832966435	0.01485	0.322310000658	0.13770	T	0.085732	0.37567	T	-0.416684	0.01796	T	-0.581268	0.14432	T	0.0178277370677556	0.00510	T	0.531447	0.31087	T	0.028188232	0.02119	0.040138032	0.04269	0.028188232	0.02119	0.040138032	0.04269	-1.842	0.03363	T	0.0454300259803171	0.00583	0.052	0.00514	B	.;.;.	.;.;.	0.399607	0.07708	4.386	0.61267874388198762	0.06666	0.01826	0.05672	N	ALL	0.058467	0.10971	N	-1.46908010252327	0.02071	0.09108025	-1.28778309204476	0.04595	0.2171039	0.999572546114837	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.65	0.348	0.15264	-2.570000	0.00989	-2.358000	0.03855	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.885000	0.42453	0.0:0.5518:0.109:0.3392	8.084	0.29922	933	0.16026	Serpin domain|Serpin domain;Serpin domain|Serpin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1928.43	33	chr18	63987019	.	T	C	1928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=487;ExcessHet=0;FS=0.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.292;SOR=0.763	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1091	9	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,21:74:99:0|1:65824683_C_G:136,0,1105:65824683	1	0	8	1
chr18	68836942	68836942	A	C	exonic	CCDC102B	.	nonsynonymous SNV	CCDC102B:NM_024781:exon2:c.A179C:p.H60P,CCDC102B:NM_001093729:exon4:c.A179C:p.H60P	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00628241751533	8.2e-05	0.000199681	0.0003	0	0	0.0031	0	0.0001	0	6.058e-05	0.0002329	36	154602	rs149880637	0.0001	0.0001	0.0001	0.0001	0.0029	0.0001	0.0001	0.0025	0.0024	0	0	0	0.0029	0	0.0003	3.147e-05	0.0001	0.0004	0.0001	0.0001	0.0001	9.408e-05	0.0017	6.512e-05	5.323e-05	0.0009	0.0007	0	0	6.545e-05	0	0.0017	0	0	7.354e-05	0.0005	0	0.284	0.15303	T	0.169	0.30534	T	0.033	0.20350	B	0.027	0.21085	B	0.024769	0.26205	N	0.323197	1	0.08975	N	1.555	0.39373	L	1.42	0.33189	T	-0.92	0.24676	N	0.218	0.25499	-1.0066	0.27973	T	0.024	0.10329	T	10	0.006343305	0.00143	T	0.006282	0.16493	T	0.073	0.21317	.	.	0.30921473904	0.30521	0.08864189039066304	0.08797	0.0141255948297	0.01346	0.309746384621	0.11869	T	0.005007	0.04439	T	-0.485758	0.00686	T	-0.476392	0.24830	T	0.0121526584879671	0.00194	T	0.608739	0.23025	T	0.13411316	0.31171	0.07369087	0.16041	0.13411316	0.31170	0.07369087	0.16040	-2.64	0.06998	T	.	.	0.071	0.04041	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.636760	0.01474	0.091	0.19295516230967008	0.00645	0.09622	0.15337	N	AEFGBI	0.175954	0.30315	N	-1.12097346809674	0.06271	0.2882252	-1.14984194804044	0.06770	0.3270445	0.998999025891151	0.38161	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.97	-0.602	0.11051	0.408000	0.20787	-1.327000	0.05707	-0.738000	0.03683	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5373:0.3:0.1627:0.0	4.896	0.13107	992	0.01359	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2582.43	182	chr18	68836942	.	A	C	2582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.25;DP=1285;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.01;SOR=0.881	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	9	0	1	0
chr18	68838844	68838844	C	T	exonic	CCDC102B	.	nonsynonymous SNV	CCDC102B:NM_024781:exon3:c.C745T:p.P249S,CCDC102B:NM_001093729:exon5:c.C745T:p.P249S	.	435	1083	4	0	0	4	0.00184332	.	.	.	2441771	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00784405730811	.	.	7.427e-05	0	0	0	0	3.002e-05	0	0.0004	5.82e-05	9	154602	rs754882534	3.694e-05	3.694e-05	1.77e-05	5.638e-05	0.0005	2.894e-05	2.592e-05	0.0004	0.0003	0	0	0	0	0	0	1.079e-05	1.656e-05	0.0005	1.973e-05	1.97e-05	0	4.039e-05	0.0004	5.25e-06	2.46e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.248	0.17239	T	0.564	0.18617	T	0.041	0.21357	B	0.029	0.21540	B	0.136802	0.18433	N	0.534747	1	0.08975	N	1.04	0.26193	L	1.56	0.29602	T	-1.41	0.34795	N	0.053	0.05287	-0.9788	0.35277	T	0.017	0.06998	T	10	0.04221627	0.02949	T	0.007844	0.20798	T	0.031	0.07369	0.386	0.40624	0.275641507738	0.27180	0.05977134354040572	0.05917	0.0220361217425	0.02206	0.23146250844	0.02078	T	0.002219	0.01623	T	-0.506871	0.00523	T	-0.649705	0.08975	T	0.0326493661223319	0.02414	T	0.691131	0.30052	T	0.042634614	0.06500	0.06708329	0.13829	0.042634614	0.06500	0.06708329	0.13828	-2.189	0.03987	T	.	.	0.141	0.31048	B	.;.;.	.;.;.	1.131309	0.15179	11.65	0.53052986083861731	0.04865	0.11663	0.16781	N	AEFGBCI	0.069051	0.13649	N	-1.02270634194803	0.08133	0.3803255	-0.994005665060109	0.09919	0.4963636	0.99991732232418	0.45857	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.61	1.71	0.23429	0.560000	0.23204	1.109000	0.24140	0.549000	0.26987	0.001000	0.13787	0.022000	0.20871	0.380000	0.26335	0.1472:0.4878:0.1279:0.2371	1.853	0.02980	990	0.01402	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	555.43	39	chr18	68838844	.	C	T	555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.606;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.178;SOR=0.623	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	9	0	1	0
chr18	70020730	70020730	C	A	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon44:c.G3302T:p.C1101F,RTTN:NM_173630:exon45:c.G6038T:p.C2013F	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	9	1472	39	2	0	43	0.0143957	.	.	.	135637	RTTN-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.171	.	0.0061	0.00419329	0.0071	0.0015	0.0046	0	0.0008	0.0085	0.0033	0.0128	0.0068563	1060	154602	rs145976466	0.0079	0.0079	0.0078	0.0081	0.0206	0.0078	0.0078	0.0176	0.0165	0.0017	0.0047	0.0046	5.039e-05	0.0019	0.0206	0.0085	0.0067	0.0129	0.0054	0.0054	0.0053	0.0054	0.0084	0.0051	0.0050	0.0078	0.0076	0.0012	0.0197	0.0077	0.0037	0	0.0009	0.0034	0.0084	0.0043	0.0070	0.03	0.45393	D	0.032	0.53426	D	0.989	0.62824	D	0.689	0.53736	P	0.027691	0.25717	N	0.454682	0.544657	0.32083	D	1.95	0.52479	M	0.66	0.52416	T	-1.77	0.41809	N	0.369	0.41063	-0.6193	0.64018	T	0.136	0.45068	T	10	0.005443305	0.00120	T	.	.	.	0.171	0.43483	.	.	0.510230903827	0.50662	0.30996790440081773	0.30909	0.167520044428	0.18895	0.308870136738	0.11737	T	0.139244	0.47317	T	-0.365889	0.03808	T	-0.287319	0.46051	T	0.00781058271793566	0.00092	T	0.835416	0.52437	T	0.12677795	0.29686	0.09754753	0.23223	0.10329817	0.24415	0.11255301	0.27158	-2.083	0.03512	T	0.5437217846477904	0.61307	0.209	0.43640	B	.;.;.	.;.;.	2.770700	0.36367	20.2	0.98568032777208736	0.43063	0.58772	0.30732	D	AEFGBI	0.235831	0.35837	N	0.419131343728332	0.62475	4.463965	0.404103181547507	0.61821	4.387615	0.999810614893077	0.43459	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.07	6.07	0.98675	1.717000	0.37612	4.040000	0.41416	0.599000	0.40250	0.174000	0.23986	0.999000	0.35428	0.555000	0.30293	0.0:0.8541:0.0:0.1459	10.571	0.44388	981	0.03995	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.010101	0.013587	0.032164	0.000000	0.000000	0.000000	0.011364	0.05	991.43	34	chr18	70020730	.	C	A	991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.999;DP=413;ExcessHet=0;FS=1.823;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.533;SOR=0.993	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr18	75285823	75285823	C	T	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.C416T:p.S139L,TSHZ1:NM_005786:exon2:c.C281T:p.S94L	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0338018592142	.	0.000199681	2.528e-05	0.0001	0	0.0001	0	1.53e-05	0	0	2.59e-05	4	154602	rs202178783	1.231e-05	1.231e-05	1.361e-05	1.1e-05	8.945e-05	7.7e-06	6.35e-06	2.985e-05	1.804e-05	0	8.945e-05	0	2.519e-05	0	0	1.169e-05	0	0	3.285e-05	3.281e-05	2.571e-05	4.031e-05	0.0002	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.817e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.003	0.68238	D	0.013	0.67890	D	0.992	0.64738	D	0.642	0.52168	P	0.559478	0.11351	N	0.753193	0.999702	0.20638	N	2.645	0.77386	M	2.51	0.26445	T	-1.18	0.80682	N	0.452	0.48963	-1.0321	0.19777	T	0.065	0.26737	T	10	0.10943073	0.20413	T	0.033802	0.55234	D	0.211	0.50185	.	.	0.46885814876	0.46514	0.37170766583637427	0.37084	0.347164696279	0.36609	0.495270490646	0.38170	T	0.147126	0.48506	T	-0.202909	0.20387	T	-0.303539	0.44350	T	0.277972549200058	0.24086	T	0.907309	0.67374	D	0.14732246	0.33683	0.16713934	0.38576	0.14732246	0.33683	0.16713934	0.38575	-3.414	0.15300	T	.	.	0.103	0.27939	B	.;.;.	.;.;.	4.616673	0.73272	26.0	0.98019857813896494	0.37620	0.86445	0.45727	D	AEFDBI	0.521762	0.54606	D	-0.0243245680421337	0.40757	2.425856	-0.10256909152508	0.35285	2.03967	0.929157677337903	0.26957	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	4.96	4.96	0.65153	5.666000	0.67729	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	0.835000	0.39381	0.0:1.0:0.0:0.0	16.408	0.83536	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2922.43	102	chr18	75285823	.	C	T	2922.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.642;DP=929;ExcessHet=0;FS=5.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.433;SOR=1.044	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	9	0	1	0
chr18	75286467	75286467	C	T	exonic	TSHZ1	.	nonsynonymous SNV	TSHZ1:NM_001308210:exon2:c.C1060T:p.R354W,TSHZ1:NM_005786:exon2:c.C925T:p.R309W	Aural atresia, congenital, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0625543740935	0.0003	.	0.0002	0.0005	0	0	0	1.501e-05	0.0011	0.0009	0.0001488	23	154602	rs144240769	6.02e-05	6.02e-05	4.22e-05	7.838e-05	0.0005	4.961e-05	4.626e-05	0.0003	0.0003	0.0002	2.236e-05	0	0	0	0	3.417e-05	3.311e-05	0.0005	0.0001	0.0001	0.0001	0.0001	0.0004	8.656e-05	7.25e-05	0.0001	0.0001	0.0003	0	6.531e-05	0	0.0004	0	0	7.35e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.965	0.71173	D	0.000001	0.84330	D	0.000000	0.998694	0.46578	D	2.42	0.70002	M	2.26	0.20959	T	-5.4	0.85103	D	0.755	0.78546	-0.9896	0.32702	T	0.105	0.38440	T	10	0.5162336	0.62382	D	0.062554	0.68689	D	0.203	0.48915	.	.	0.453878812622	0.45013	0.5435145822723325	0.54277	1.10781785835	0.77950	0.796907544136	0.81492	T	0.696746	0.91231	D	-0.214373	0.18768	T	-0.202977	0.54363	T	0.262787222862244	0.23436	T	0.979502	0.92959	D	0.34166765	0.56412	0.18347879	0.41340	0.32285425	0.54879	0.2015713	0.44142	-15.141	0.96210	D	.	.	0.438	0.61597	A	.;.	.;.	4.122307	0.61622	24.4	0.91139019926326759	0.20392	0.97183	0.73178	D	AEFDBI	0.696618	0.65490	D	0.622048510773033	0.74571	6.155322	0.56837924072822	0.72684	5.849063	0.999999044917681	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.27	3.34	0.37357	3.040000	0.49489	1.392000	0.26124	-0.223000	0.07921	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.4226:0.5774:0.0:0.0	12.806	0.56997	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2120.43	67	chr18	75286467	.	C	T	2120.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2;DP=729;ExcessHet=0;FS=0.623;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-0.255;SOR=0.611	GT:AD:DP:GQ:PL	0/1:65,80:145:99:2132,0,1438	9	0	1	0
chr18	78993258	78993258	C	G	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.C1267G:p.R423G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0326279586177	.	.	9.383e-06	0	0	0	0	0	0	6.562e-05	6.5e-06	1	154602	rs758753258	4.115e-06	4.104e-06	2.729e-06	5.514e-06	3.484e-05	1.48e-06	9.7e-07	9.25e-06	4.57e-06	0	0	0	0	0	0	1.799e-06	1.658e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.924	0.65913	D	0.000030	0.55875	D	0.000000	0.999995	0.58761	D	1.765	0.45800	L	3.17	0.07599	T	-5.75	0.87760	D	0.839	0.87373	-1.1248	0.02048	T	0.064	0.26349	T	10	0.6858777	0.71558	D	0.032628	0.54402	D	0.278	0.59497	0.366	0.37361	0.422762650823	0.41893	0.6795173186319645	0.67890	1.38368132577	0.84841	0.8781042099	0.93704	D	0.086181	0.81713	T	0.0804279	0.62090	D	-0.0216174	0.68921	D	0.946431219577789	0.62469	D	0.934107	0.75346	D	0.7670328	0.81870	0.66878235	0.80571	0.7670328	0.81871	0.66878235	0.80572	-12.633	0.87954	D	.	.	0.994	0.95244	P	.;.;.;.	.;.;.;.	3.156180	0.42741	21.6	0.92059331908066278	0.21404	0.62580	0.31824	D	AEFDBCI	0.391552	0.46995	N	0.296892808557188	0.55991	3.763288	0.206034559655425	0.50182	3.212956	0.985007809249711	0.30811	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.562822	0.20929	0	.	.	4.54	2.1	0.26226	0.758000	0.26113	1.703000	0.28145	-0.322000	0.05848	0.995000	0.38783	0.997000	0.33255	0.974000	0.55675	0.5206:0.4794:0.0:0.0	12.510	0.55347	.	.	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1739.43	44	chr18	78993258	.	C	G	1739.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.15;DP=536;ExcessHet=0;FS=2.272;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=1.69;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,941	9	0	1	0
chr18	78993717	78993717	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1726A:p.G576S	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00564127734618	0.0002	.	0.0002	0	0	0	0	4.698e-05	0.0021	0.0016	0.0001488	23	154602	rs376550476	7.553e-05	8.277e-05	4.517e-05	0.0001	0.0010	6.368e-05	5.936e-05	0.0009	0.0008	6.228e-05	0	0.0004	0	0	0.0004	6.413e-06	5.163e-05	0.0010	3.283e-05	3.281e-05	0	6.714e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	2.405e-05	0	0	0	0	0	0	0	0	0.0008	0.195	0.20759	T	0.498	0.16376	T	0.07	0.23866	B	0.005	0.11217	B	0.006350	0.32094	N	0.213955	1	0.08975	N	1.455	0.36767	L	3.35	0.08547	T	-1.56	0.37759	N	0.142	0.14622	-0.9285	0.44357	T	0.012	0.04747	T	10	0.018353522	0.00399	T	0.005641	0.14591	T	0.026	0.05648	.	.	0.299427821978	0.29548	0.35816941693963383	0.35730	0.409573402614	0.41769	0.273529291153	0.06606	T	0.024249	0.38900	T	-0.589863	0.00168	T	-0.676422	0.07204	T	0.0264562012873222	0.01468	T	0.691131	0.30052	T	0.043939248	0.06937	0.04265139	0.05128	0.043939248	0.06937	0.04265139	0.05127	-3.163	0.12141	T	.	.	0.071	0.04477	B	.;.;.;.	.;.;.;.	1.065060	0.14470	11.04	0.71998401907729881	0.09821	0.55929	0.29988	D	AEFDBCI	0.271850	0.38761	N	-1.01838387538899	0.08222	0.3847651	-0.961788461378512	0.10651	0.5377615	0.98510935163251	0.30829	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.14	2.4	0.28568	1.210000	0.31975	2.821000	0.34963	-0.110000	0.15115	0.825000	0.30060	0.998000	0.33993	0.002000	0.04165	0.2091:0.0:0.6543:0.1365	5.629	0.16776	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1782.43	76	chr18	78993717	.	G	A	1782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=885;ExcessHet=0;FS=7.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.096;SOR=0.397	GT:AD:DP:GQ:PL	0/0:76,0:76:99:0,120,1800	9	0	1	0
chr18	79096627	79096627	G	C	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon2:c.G271C:p.G91R,ATP9B:NM_198531:exon2:c.G271C:p.G91R	.	436	1075	11	0	0	11	0.00509024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	0.0053	0.00279553	0.0036	0.0005	0.0045	0.0001	0.0010	0.0053	0.0024	0.0013	0.003564	551	154602	rs144519079	0.0046	0.0046	0.0048	0.0045	0.0054	0.0045	0.0045	0.0052	0.0051	0.0006	0.0054	0.0067	0	0.0008	0.0052	0.0053	0.0049	0.0010	0.0037	0.0037	0.0038	0.0036	0.0087	0.0035	0.0034	0.0075	0.0070	0.0009	0	0.0087	0.0040	0.0002	0.0012	0.0068	0.0051	0.0066	0.0008	0.105	0.39334	T	0.567	0.15355	T	0.021	0.21686	B	0.01	0.25995	B	0.000145	0.49130	D	0.133676	0.999929	0.51308	D	0.455	0.12820	N	0.2	0.60111	T	-0.72	0.33598	N	0.611	0.66700	-1.0282	0.21038	T	0.075	0.30272	T	10	0.008199632	0.00186	T	.	.	.	0.251	0.56024	.	.	0.681388529596	0.67867	0.7343745236082765	0.73382	0.278618513711	0.30347	0.529201447964	0.42922	T	0.05476	0.41339	T	-0.147162	0.28757	T	0.0237968	0.71876	D	0.0278091546740154	0.01661	T	0.948405	0.80130	D	0.13663392	0.31667	0.10433816	0.25056	0.13663392	0.31666	0.10433816	0.25055	-2.491	0.05720	T	.	.	0.231	0.52639	B	.;.;.;.	.;.;.;.	3.766465	0.54074	23.4	0.99053735340692595	0.51321	0.97268	0.73690	D	AEFGBI	0.718729	0.66984	D	-0.402754952391943	0.25372	1.376839	-0.304849600468498	0.27942	1.554153	0.997609323701015	0.35808	0.643511	0.44296	0	0.653731	0.59785	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.03	4.13	0.47661	7.209000	0.77424	9.606000	0.81076	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.1384:0.8616:0.0	15.574	0.76101	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.010101	0.014946	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1203.43	33	chr18	79096627	.	G	C	1203.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.437;DP=438;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.129;SOR=0.814	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1215,0,1431	9	0	1	0
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V,ATP9B:NM_198531:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	584.25	36	chr18	79373903	.	A	G	584.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.212;DP=369;ExcessHet=0.2633;FS=110.902;InbreedingCoeff=-0.2125;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=0.242;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:66:.:.:0,66,663:.	5	0	2	3
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	669.49	35	chr18	79373905	.	C	G	669.49	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.918;DP=365;ExcessHet=2.1085;FS=142.794;InbreedingCoeff=-0.3888;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=4.38;ReadPosRankSum=1.2;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:25,0:33:48:0|1:79373902_C_T:48,122,991:79373902	1	0	3	6
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	663.14	35	chr18	79373906	.	C	G	663.14	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.034;DP=374;ExcessHet=2.1085;FS=138.543;InbreedingCoeff=-0.3888;MLEAC=6;MLEAF=0.75;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=1.26;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,8:33:48:0|1:79373902_C_T:48,0,847:79373902	0	0	4	6
chr18	80137253	80137253	A	G	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.A1840G:p.T614A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0122819648781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	4.084e-06	5.5e-06	2.519e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	2.519e-05	0	0	4.496e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.07	0.43721	T	0.946	0.53363	P	0.723	0.54990	P	0.000002	0.62929	D	0.000000	0.998345	0.44796	D	2.175	0.60977	M	.	.	.	-2.18	0.49187	N	0.649	0.66016	-0.6148	0.64205	T	0.264	0.63544	T	8	0.65507615	0.69826	D	0.012282	0.30711	T	0.155	0.40530	0.505	0.59924	0.715051379167	0.71254	0.8196360381692313	0.81920	0.620895996431	0.56390	0.64833521843	0.59749	T	0.203092	0.56146	T	0.0595897	0.59561	T	-0.15218	0.59050	T	0.915191531181335	0.57212	D	0.707729	0.31835	T	0.19208002	0.40862	0.19763075	0.43554	0.19208002	0.40862	0.19763075	0.43553	-4.338	0.28706	T	.	.	0.328	0.55067	B	.	.	3.603973	0.50915	23.0	0.99652084222060089	0.77380	0.89476	0.49965	D	AEFGBCI	0.245421	0.36636	N	0.387039851805356	0.60720	4.264019	0.355624480142265	0.58849	4.05799	0.999999284680407	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	4.973000	0.63479	11.044000	0.85213	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	1.0:0.0:0.0:0.0	14.630	0.68251	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1904.43	98	chr18	80137253	.	A	G	1904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=841;ExcessHet=0;FS=0.609;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.46;SOR=0.753	GT:AD:DP:GQ:PL	0/0:117,0:117:99:0,120,1800	9	0	1	0
chr19	110747	110747	-	T	exonic	OR4F17	.	frameshift insertion	OR4F17:NM_001005240:exon3:c.70dupT:p.V26Cfs*20	.	454	1047	21	0	0	21	0.00992908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	0.00479233	0.0060	0.0013	0.0060	0	0.0026	0.0078	0.0033	0.0065	0.0004786	74	154602	rs560302340	0.0052	0.0082	0.0053	0.0051	0.0057	0.0051	0.0050	0.0056	0.0055	0.0006	0.0046	0.0084	5.04e-05	0.0016	0.0046	0.0057	0.0047	0.0051	0.0040	0.0060	0.0043	0.0038	0.0067	0.0038	0.0037	0.0055	0.0052	0.0008	0.0011	0.0066	0.0099	0	0.0008	0.0069	0.0057	0.0067	0.0067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005220	0.006849	0.004087	0.004425	0.000000	0.008929	0.007194	0.012097	0.1	1478.1	323	chr19	110747	.	G	GT	1478.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.13;DP=838;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=36.59;MQRankSum=-2.939;QD=2.76;ReadPosRankSum=-0.459;SOR=0.69	GT:AD:DP:GQ:PL	0/1:159,54:213:99:1037,0,4306	8	0	2	0
chr19	501786	501786	-	CTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.785_786insCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA:p.E263Sfs*46	.	504	981	36	0	1	37	0.018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0046	0.0044	0	0.0003	0	0	0	0.0015	7.713e-05	0.0005	0.0052	0.0015	0.0017	0.0008	0.0023	0.0439	0.0011	0.0009	0.0305	0.0261	0	0	0	0	0	0	0	0	0.0070	0.0439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	925.85	58	chr19	501786	.	C	CCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCA	925.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.066;DP=539;ExcessHet=0;FS=3.907;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.333;MQ=59.22;MQRankSum=-1.266;QD=18.15;ReadPosRankSum=-1.782;SOR=1.132	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:28,0:28:0:.:.:0,0,169:.	2	0	1	7
chr19	549093	549093	C	T	exonic	GZMM	.	nonsynonymous SNV	GZMM:NM_001258351:exon4:c.C403T:p.R135C,GZMM:NM_005317:exon4:c.C520T:p.R174C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.327217623926	.	0.000399361	0.0003	0	0	0.0003	0	4.627e-05	0	0.0009	9.7e-05	15	154602	rs549703952	0.0001	0.0001	9.122e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3.011e-05	2.491e-05	0	5.19e-05	0	0.0005	2.91e-05	0.0002	0.0017	6.582e-05	6.564e-05	2.575e-05	0.0001	0.0021	3.522e-05	2.62e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.001	0.78490	D	0.015	0.61642	D	0.998	0.73220	D	0.94	0.67560	D	0.588851	0.11070	U	0.663319	1	0.08975	N	1.06	0.26948	L	-2.45	0.88847	D	-3.43	0.67359	D	0.283	0.32037	-0.1359	0.79264	T	0.678	0.88870	D	10	0.07312745	0.11007	T	0.327218	0.91647	D	0.345	0.66676	.	.	0.834332070228	0.83275	0.4897540887096439	0.48895	0.394897662239	0.40640	0.46452575922	0.33930	T	0.552066	0.84851	D	-0.327706	0.06287	T	-0.293944	0.45361	T	0.158856993623988	0.17787	T	0.832517	0.50110	T	0.3691063	0.58519	0.53796077	0.73299	0.3691063	0.58519	0.53796077	0.73299	-10.589	0.77357	D	.	.	0.313	0.56520	B	.;.	.;.	2.494783	0.32192	18.97	0.99411775081558751	0.63310	0.03467	0.08621	N	AEFDBHCI	0.037406	0.05139	N	-0.573420865056525	0.19755	1.036402	-0.944051513637879	0.11061	0.5612132	0.633807362706232	0.21992	0.581397	0.33459	0	0.78372	0.99691	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.87	-5.74	0.02197	-1.995000	0.01562	-2.028000	0.04322	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4748:0.2527:0.1576:0.115	1.956	0.03171	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001021	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	612.43	34	chr19	549093	.	C	T	612.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.495;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=-0.477;SOR=0.633	GT:AD:DP:GQ:PL	0/1:43,30:73:99:624,0,980	9	0	1	0
chr19	616432	616432	C	A	exonic	HCN2	.	nonsynonymous SNV	HCN2:NM_001194:exon8:c.C2628A:p.D876E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.978007204354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	2.463e-05	3.552e-06	1.877e-06	3.243e-06	7.3e-07	2e-07	8.6e-07	2.4e-07	0	0	0	0	0	0	3.243e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.944	0.02662	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.967275	0.25856	N	1.61	0.41143	L	-4.26	0.97078	D	-0.2	0.10136	N	0.056	0.02759	-0.1680	0.78477	T	0.641	0.87473	D	9	0.23685226	0.40775	T	0.978007	0.99879	D	0.219	0.51417	0.25	0.18757	0.487670455057	0.48399	0.3411996603622228	0.34032	1.01988730095	0.75077	0.890513300896	0.95325	D	0.225386	0.59010	T	-0.0828773	0.39245	T	-0.356824	0.38420	T	0.0549709312617779	0.06352	T	0.360464	0.08297	T	0.0562255	0.11033	0.04526727	0.06052	0.0562255	0.11033	0.04526727	0.06052	-2.368	0.04940	T	.	.	0.098	0.16451	B	.	.	1.177492	0.15679	12.02	0.97607662530695471	0.34887	0.03428	0.08560	N	AEFDHI	0.072296	0.14424	N	-0.992390280506066	0.08766	0.4122564	-0.932042838423473	0.11340	0.5771219	0.00108109281431683	0.08194	0.646311	0.45356	0	0.514364	0.08380	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.37	-0.27	0.12287	-0.831000	0.04512	-1.096000	0.06343	-0.388000	0.05360	0.396000	0.26137	0.000000	0.08366	0.021000	0.11733	0.2829:0.5419:0.0:0.1753	2.585	0.04536	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	369.43	34	chr19	616432	.	C	A	369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.902;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.54;MQRankSum=0;QD=11.19;ReadPosRankSum=1.15;SOR=0.818	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,639	9	0	1	0
chr19	617466	617466	A	G	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon20:c.T3596C:p.L1199S	.	427	1077	18	0	0	18	0.00828729	.	.	.	728450	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.056	.	0.0047	0.00319489	0.0061	0.0018	0.0059	0	0.0022	0.0090	0.0049	0.0028	0.0057826	894	154602	rs151287767	0.0077	0.0077	0.0078	0.0075	0.0130	0.0075	0.0075	0.0105	0.0096	0.0014	0.0068	0.0052	0	0.0032	0.0130	0.0087	0.0079	0.0033	0.0058	0.0059	0.0061	0.0055	0.0097	0.0055	0.0053	0.0085	0.0080	0.0014	0	0.0097	0.0049	0	0.0033	0.0136	0.0085	0.0109	0.0031	.	.	.	0.445	0.13140	T	0.003	0.11197	B	0.026	0.20792	B	0.000046	0.00387	N	9.009160	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.149	0.15187	-1.0240	0.22410	T	0.042	0.17952	T	10	0.0049084723	0.00105	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.4567661953493399	0.45594	0.0288100514737	0.02965	0.396012067795	0.24514	T	0.007223	0.06635	T	-0.60466	0.00136	T	-0.63408	0.10107	T	0.000821622846927263	0.00008	T	0.19908	0.02235	T	0.13238767	0.30827	0.1380573	0.32981	0.13238767	0.30827	0.1380573	0.32980	-2.29	0.04501	T	.	.	0.084	0.09868	B	.	.	0.119766	0.05175	1.692	0.31913970483794329	0.01823	0.00796	0.03248	N	AEFDGBHCI	0.015781	0.00318	N	-1.89541605862479	0.00351	0.01507178	-1.96734416740588	0.00358	0.01582588	0.898859477897704	0.26036	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.64	-5.27	0.02551	0.219000	0.17426	-0.050000	0.12557	-0.986000	0.01871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6335:0.0:0.2206:0.146	6.106	0.19293	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008081	0.005102	0.010870	0.014620	0.000000	0.000000	0.003067	0.003788	0.05	208.43	57	chr19	617466	.	A	G	208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.476;DP=451;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.95;ReadPosRankSum=-0.181;SOR=0.793	GT:AD:DP:GQ:PL	0/0:50,0:50:99:0,115,1672	9	0	1	0
chr19	621467	621467	G	A	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon10:c.C2231T:p.A744V	.	408	1112	2	0	0	2	0.000898473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.0121379177113	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749760358	9.033e-06	1.37e-05	7.964e-06	1.017e-05	0.0006	4.85e-06	3.54e-06	0.0001	4.288e-05	0	0	0	0	0	0.0006	5.988e-06	4.007e-05	1.799e-05	1.998e-05	1.983e-05	2.606e-05	1.363e-05	0.0002	5.31e-06	2.47e-06	4.9e-06	1.83e-06	0	0	0	0	0	0	0	2.951e-05	0	0.0002	.	.	.	0.503	0.11078	T	0.0	0.02946	B	0.001	0.04355	B	0.960173	0.08229	N	0.980975	1	0.08975	N	-0.205	0.04094	N	.	.	.	.	.	.	0.154	0.15888	-1.0103	0.26823	T	0.054	0.22770	T	10	0.041947126	0.02897	T	0.012138	0.30444	T	.	.	0.248	0.18447	0.239305524855	0.23518	0.3060076991650319	0.30513	0.203805891023	0.22797	0.303723961115	0.10959	T	0.004051	0.03463	T	-0.381293	0.03058	T	-0.785477	0.02292	T	0.0459431371622113	0.04773	T	0.213579	0.02626	T	0.047182154	0.08021	0.0302614	0.01460	0.047182154	0.08021	0.0302614	0.01459	-3.828	0.21223	T	.	.	0.076	0.06159	B	.	.	-0.877564	0.00963	0.038	0.76422692817752824	0.11462	0.03664	0.08924	N	AEFDBI	0.067920	0.13374	N	-1.28055835657691	0.03909	0.1755183	-1.34790339116945	0.03831	0.1794927	0.54354252695101	0.21273	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.42	-3.38	0.04577	-1.902000	0.01687	-1.673000	0.04942	-1.069000	0.01598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3366:0.1667:0.4968	5.692	0.17107	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003392	0.000000	0.001748	0.000000	0.000000	0.000000	0.011719	0.009901	0.05	731.43	12	chr19	621467	.	G	A	731.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.607;DP=259;ExcessHet=0;FS=0;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=59.84;MQRankSum=-0.786;QD=16.62;ReadPosRankSum=-0.645;SOR=0.637	GT:AD:DP:GQ:PL	0/0:25,0:25:60:0,60,900	9	0	1	0
chr19	691995	691995	G	A	exonic	PRSS57	.	nonsynonymous SNV	PRSS57:NM_001308209:exon3:c.C241T:p.R81C,PRSS57:NM_214710:exon3:c.C244T:p.R82C	.	429	1076	15	2	0	19	0.00875173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	.	0.0005	0.0181709	0.0131	0.0001	0.0033	0.1229	0.0003	0.0007	0.0063	0.0241	0.0082082	1269	154602	rs76977862	0.0037	0.0038	0.0037	0.0038	0.1050	0.0036	0.0036	0.1019	0.1007	0.0002	0.0012	0.0004	0.1050	0.0013	0.0031	0.0002	0.0044	0.0214	0.0042	0.0043	0.0031	0.0055	0.0927	0.0040	0.0039	0.0858	0.0831	0.0001	0	0.0004	0.0003	0.0927	0.0018	0	0.0003	0.0033	0.0224	.	.	.	0.049	0.49120	D	0.998	0.73220	D	0.892	0.63276	P	0.057210	0.02095	N	2.309790	1	0.08975	N	1.65	0.42232	L	.	.	.	.	.	.	0.337	0.38129	-0.4828	0.69267	T	0.075	0.30210	T	10	0.0027598143	0.00043	T	.	.	.	0.364	0.68407	.	.	0.24896430686	0.24499	0.3307757033672906	0.32990	0.0849568686431	0.09603	0.43369615078	0.29715	T	0.310892	0.68282	T	-0.500311	0.00569	T	-0.414874	0.31663	T	0.0506395642369326	0.05612	T	0.775222	0.40690	T	0.36636472	0.58315	0.2687452	0.52747	0.36636472	0.58316	0.2687452	0.52746	-7.427	0.57095	T	.	.	0.276	0.52630	B	.;.	.;.	2.755273	0.36121	20.2	0.99553447963465358	0.71273	0.02967	0.07808	N	AEFI	0.108193	0.21531	N	-0.452267172667099	0.23662	1.272	-0.744613108377847	0.15854	0.8359072	7.77420006893371E-6	0.01202	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.28	-3.68	0.04175	-0.065000	0.11575	0.144000	0.15210	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0896:0.4038:0.3696:0.1371	4.661	0.12030	994	0.00715	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004555	0.005102	0.000000	0.002924	0.000000	0.000000	0.003106	0.018939	0.05	1198.43	37	chr19	691995	.	G	A	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.85;DP=474;ExcessHet=0;FS=5.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.45;SOR=1.277	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr19	746498	746498	C	T	exonic	PALM	.	nonsynonymous SNV	PALM:NM_001040134:exon8:c.C716T:p.A239V,PALM:NM_002579:exon9:c.C848T:p.A283V	.	.	.	.	.	.	.	.	.	.	.	1622166	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.118	.	.	0.00479233	0.0016	0	0.0050	0.0135	0	8.428e-05	0	6.242e-05	0.0013066	202	154602	rs188184317	0.0004	0.0004	0.0004	0.0004	0.0088	0.0004	0.0004	0.0081	0.0078	0	0.0037	0.0005	0.0088	0	0	7.198e-06	0.0006	2.322e-05	0.0007	0.0007	0.0007	0.0006	0.0118	0.0006	0.0005	0.0094	0.0086	2.407e-05	0	0.0018	0.0009	0.0118	0	0	4.411e-05	0.0024	0	0.098	0.30800	T	0.328	0.20745	T	0.999	0.77913	D	0.93	0.66466	D	0.057840	0.22450	N	0.438594	0.983598	0.24871	N	2.285	0.65182	M	2.03	0.20959	T	-1.72	0.40850	N	0.185	0.22614	-1.0718	0.09022	T	0.047	0.19998	T	10	0.0047614574	0.00101	T	.	.	.	0.118	0.32913	.	.	0.41859458845	0.41473	0.38475656102346106	0.38390	0.532187503926	0.50693	0.60855036974	0.54111	T	0.035397	0.23703	T	-0.53541	0.00357	T	-0.530179	0.19268	T	0.0523603404593343	0.05910	T	0.837416	0.59928	T	0.14912626	0.34013	0.1276646	0.30727	0.14912626	0.34012	0.1276646	0.30726	-4.206	0.26838	T	.	.	0.189	0.40683	B	.;.;.;.	.;.;.;.	3.781525	0.54376	23.5	0.9981551519521521	0.89885	0.83633	0.42737	D	AEFDBI	0.376854	0.46084	N	0.263808312233776	0.54326	3.598368	0.273280935127986	0.53984	3.56495	0.927850544575192	0.26905	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.82	4.82	0.61641	0.758000	0.26113	4.715000	0.44476	0.524000	0.24156	0.354000	0.25792	1.000000	0.68203	0.571000	0.30675	0.0:1.0:0.0:0.0	16.855	0.85870	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1558.43	35	chr19	746498	.	C	T	1558.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=465;ExcessHet=0;FS=1.435;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=1.15;SOR=0.551	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1275	9	0	1	0
chr19	804080	804080	G	A	exonic	PTBP1	.	nonsynonymous SNV	PTBP1:NM_002819:exon4:c.G160A:p.A54T,PTBP1:NM_031990:exon4:c.G160A:p.A54T,PTBP1:NM_031991:exon4:c.G160A:p.A54T	.	421	1095	6	0	0	6	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.0133249577241	0.0002	0.000599042	0.0004	0	0.0003	0	0	0.0003	0.0044	0.0015	0.000401	62	154602	rs140945539	0.0004	0.0004	0.0003	0.0005	0.0028	0.0004	0.0004	0.0017	0.0016	0.0002	0.0003	0.0002	0	0	0.0028	0.0003	0.0004	0.0020	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	9.626e-05	0	0.0004	0	0	0	0	0.0004	0.0014	0.0010	0.661	0.04685	T	0.749	0.55759	T	0.0	0.02946	B	0.0	0.04355	B	0.244093	0.15649	N	0.637948	1	0.19694	N	0.41	0.12415	N	0.98	0.76300	T	0.04	0.06488	N	0.061	0.10340	-1.0100	0.26917	T	0.027	0.11441	T	10	0.006631106	0.00246	T	0.013325	0.32631	T	0.008	0.00669	.	.	0.535086823406	0.53158	0.20850507075653904	0.20766	0.450773833729	0.44841	0.261978507042	0.05128	T	0.078103	0.35813	T	-0.574493	0.00208	T	-0.60526	0.12373	T	0.0154378628760949	0.00346	T	0.886911	0.78979	D	0.13256857	0.30865	0.04693348	0.06651	0.13256857	0.30865	0.04693348	0.06651	-4.213	0.26939	T	.	.	0.067	0.02861	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.391652	0.07630	4.297	0.60285721859604402	0.06427	0.27978	0.23427	N	AEFDBHCI	0.210636	0.33650	N	-1.60501465250336	0.01239	0.05392185	-1.66155470508485	0.01317	0.05943287	0.999999996834908	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.41	-7.53	0.01194	0.010000	0.13140	0.060000	0.14119	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3673:0.1367:0.3993:0.0968	2.859	0.05239	994	0.00715	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.002717	0.005848	0.000000	0.008621	0.003049	0.003788	0.05	2529.43	33	chr19	804080	.	G	A	2529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=670;ExcessHet=0;FS=0.521;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.162;SOR=0.625	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1406	9	0	1	0
chr19	804613	804613	G	A	exonic	PTBP1	.	nonsynonymous SNV	PTBP1:NM_002819:exon6:c.G517A:p.A173T,PTBP1:NM_031990:exon6:c.G517A:p.A173T,PTBP1:NM_031991:exon6:c.G517A:p.A173T	.	418	1099	5	0	0	5	0.00226963	.	.	.	728499	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0155470771083	0.0016	0.00199681	0.0015	0.0009	0.0014	0.0007	0.0005	0.0012	0	0.0037	0.0012936	200	154602	rs150661031	0.0013	0.0013	0.0013	0.0014	0.0037	0.0013	0.0013	0.0034	0.0033	0.0005	0.0016	3.83e-05	0.0005	0.0007	0.0024	0.0012	0.0016	0.0037	0.0013	0.0013	0.0013	0.0013	0.0035	0.0012	0.0011	0.0022	0.0019	0.0007	0	0.0028	0	0.0008	0.0008	0	0.0014	0.0028	0.0035	0.611	0.05918	T	0.405	0.14771	T	0.005	0.15093	B	0.004	0.10090	B	0.000203	0.47681	N	0.185182	0.999884	0.81001	D	1.59	0.40313	L	0.89	0.78082	T	-0.38	0.16799	N	0.386	0.43610	-1.0802	0.07310	T	0.070	0.28577	T	10	0.008741975	0.00198	T	0.015547	0.36344	T	0.071	0.20720	.	.	0.649387415322	0.64647	0.36775442874402686	0.36689	0.452908181747	0.44994	0.551088869572	0.46011	T	0.103971	0.41311	T	-0.326055	0.06414	T	-0.243237	0.50481	T	0.00798985297716621	0.00094	T	0.881612	0.63503	D	0.08433749	0.19516	0.06541323	0.13253	0.08433749	0.19516	0.06541323	0.13252	-7.362	0.58353	T	.	.	0.080	0.22318	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.045508	0.40845	21.2	0.9613748780065573	0.28826	0.94186	0.60374	D	AEFDBHCI	0.318971	0.42251	N	-0.465473880726451	0.23219	1.245318	-0.347831135856457	0.26576	1.468855	0.999999672944588	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.81	4.81	0.61401	3.536000	0.53338	8.425000	0.77158	-0.108000	0.15293	0.997000	0.40164	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	16.906	0.85995	994	0.00715	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.007576	0.05	855.43	33	chr19	804613	.	G	A	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.856;DP=714;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=0.112;SOR=0.632	GT:AD:DP:GQ:PL	0/0:61,0:61:99:0,120,1800	9	0	1	0
chr19	1041872	1041872	C	G	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon4:c.C202G:p.P68A	.	410	1108	4	0	0	4	0.0018018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.229377202545	.	0.000599042	0.0004	0	0	0	0.0003	0.0002	0	0.0021	0.0003299	51	154602	rs148580487	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0002	0.0016	0.0015	5.983e-05	0.0001	0	0	9.037e-05	0.0024	6.852e-05	0.0002	0.0018	0.0001	0.0001	6.422e-05	0.0002	0.0017	7.569e-05	6.275e-05	0.0008	0.0006	0	0	0.0002	0	0	0	0	0.0001	0	0.0017	0.068	0.44694	T	0.02	0.58613	D	0.673	0.41222	P	0.268	0.39801	B	.	.	.	.	0.838512	0.35029	D	2.945	0.84822	M	-7.43	0.99877	D	-5.77	0.94958	D	0.399	0.43995	1.068	0.98546	D	0.985	0.99551	D	9	0.085891426	0.14546	T	0.229377	0.88181	D	0.675	0.88013	.	.	0.953123744604	0.95262	0.5166572780344041	0.51588	0.145133145497	0.16409	0.38816139102	0.23411	T	0.637807	0.88855	D	-0.110784	0.34638	T	0.0548597	0.73904	D	0.211479053344443	0.21031	T	0.845915	0.67928	T	0.15308574	0.34718	0.20698264	0.44937	0.15308574	0.34718	0.20698264	0.44936	-8.418	0.63884	D	.	.	0.075	0.07841	B	.;.;.;.	.;.;.;.	0.979052	0.13562	10.09	0.99193043765300282	0.55053	0.80388	0.40039	D	ALL	0.364065	0.45274	N	0.0701313893029329	0.45072	2.770053	0.0660987616574241	0.42858	2.599657	0.999999886826082	0.74766	0.660377	0.49826	0	0.627608	0.54475	0	0.696353	0.63694	0	0.604944	0.38103	0	.	.	4.59	2.44	0.28875	1.481000	0.35083	-0.332000	0.09882	0.587000	0.30956	0.993000	0.37899	0.000000	0.08366	0.307000	0.24666	0.0:0.8079:0.0:0.1921	8.687	0.33404	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002024	0.000000	0.001362	0.005882	0.000000	0.000000	0.000000	0.003788	0.05	732.43	35	chr19	1041872	.	C	G	732.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.61;DP=299;ExcessHet=0;FS=4.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=1.28;SOR=1.249	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,721	9	0	1	0
chr19	1043184	1043184	C	G	exonic	ABCA7	.	stopgain	ABCA7:NM_019112:exon8:c.C723G:p.Y241X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.431e-06	0	0	0	0	1.545e-05	0	0	6.5e-06	1	154602	rs145274467	2.058e-06	2.052e-06	0	4.14e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.01e-07	1.662e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.712	0.71498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314474	0.84076	D	0.22943	0.84642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	3.260957	0.44598	22.0	0.98564277285526081	0.43025	0.36323	0.25507	N	ALL	0.219039	0.34397	N	-0.432309745693959	0.24343	1.313791	-0.787482242147436	0.14802	0.7753225	0.999999897607919	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.1	-3.27	0.04735	-2.692000	0.00901	-9.531000	0.00809	-1.837000	0.00584	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.3918:0.0:0.6082	9.020	0.35357	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3338.43	41	chr19	1043184	.	C	G	3338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=539;ExcessHet=0;FS=0.505;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.092;SOR=0.754	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1209	9	0	1	0
chr19	1053439	1053439	G	A	exonic	ABCA7	.	nonsynonymous SNV	ABCA7:NM_019112:exon24:c.G3331A:p.G1111S	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.101329137782	0.0003	0.000599042	0.0006	0	0	0.0002	0.0004	0.0003	0	0.0027	0.0003363	52	154602	rs150012110	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0017	0.0015	9.014e-05	0.0001	0	0	8.044e-05	0.0027	7.665e-05	0.0002	0.0018	0.0001	0.0001	7.708e-05	0.0002	0.0019	9.738e-05	8.253e-05	0.0010	0.0007	2.407e-05	0	0.0002	0	0	0	0	0.0001	0	0.0019	0.058	0.37750	T	0.199	0.27679	T	0.996	0.68779	D	0.781	0.57337	P	.	.	.	.	0.93646	0.27743	N	1.495	0.37439	L	-2.19	0.86815	D	-3.16	0.64246	D	0.414	0.45992	-0.2198	0.77156	T	0.583	0.85035	D	9	0.025553018	0.00746	T	0.101329	0.77414	D	0.314	0.63588	.	.	0.870678369749	0.86941	0.466299937592426	0.46548	0.352166808134	0.37058	0.485178291798	0.36770	T	0.479067	0.80863	T	-0.372922	0.03449	T	-0.315717	0.43042	T	0.0920561350070638	0.11459	T	0.806319	0.45525	T	0.10761576	0.25447	0.16194937	0.37644	0.10761576	0.25446	0.16194937	0.37643	-8.001	0.61077	D	.	.	0.137	0.30502	B	.;.;.	.;.;.	2.914408	0.38671	20.8	0.99599520203835112	0.74101	0.84661	0.43746	D	AEFDGBHCI	0.160229	0.28614	N	-0.0739297274613822	0.38539	2.25872	-0.194026871940787	0.31755	1.800126	0.239940124118795	0.18560	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.49	2.34	0.28071	3.823000	0.55415	4.988000	0.46508	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.1085:0.0:0.8915:0.0	11.527	0.49834	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002049	0.000000	0.001362	0.005917	0.055556	0.000000	0.000000	0.003846	0.05	1670.43	34	chr19	1053439	.	G	A	1670.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=643;ExcessHet=0;FS=2.31;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-1.766;SOR=0.925	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1138	9	0	1	0
chr19	1223126	1223126	C	G	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon8:c.C1062G:p.F354L	Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic	0	1511	11	0	0	11	0.00362677	.	.	.	22500	Hereditary_cancer-predisposing_syndrome|Breast_and/or_ovarian_cancer|not_specified|not_provided|Malignant_tumor_of_breast|Melanoma,_cutaneous_malignant,_susceptibility_to,_1|Peutz-Jeghers_syndrome|Carcinoma_of_pancreas|Germ_cell_tumor_of_testis	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN221562|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0007963,MedGen:C1835047,OMIM:155600,Orphanet:618|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,Orphanet:1333,Orphanet:217074|MONDO:MONDO:0010108,MedGen:C1336708,OMIM:273300,Orphanet:363504	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.156	.	0.0038	0.0111821	0.0058	0.0008	0.0009	0.0365	0.0007	0.0042	0.0028	0.0030	0.0048576	751	154602	rs59912467	0.0052	0.0052	0.0054	0.0051	0.0393	0.0051	0.0051	0.0377	0.0371	0.0010	0.0012	0.0061	0.0393	0.0007	0.0040	0.0046	0.0068	0.0030	0.0040	0.0040	0.0039	0.0040	0.0408	0.0037	0.0036	0.0363	0.0346	0.0010	0.0022	0.0026	0.0072	0.0408	0.0003	0.0068	0.0036	0.0024	0.0063	0.244	0.17468	T	0.566	0.10245	T	0.062	0.23277	B	0.04	0.23831	B	0.003767	0.34511	N	0.324638	0.00688864	0.23769	A	1.78	0.46185	L	-0.27	0.67367	T	-1.38	0.34198	N	0.324	0.36779	-0.9853	0.33760	T	0.032	0.13592	T	9	0.05135572	0.05003	T	.	.	.	0.156	0.40720	0.789	0.91142	0.381939241115	0.37810	0.18934256613256994	0.18852	0.0457737829898	0.04968	0.509584367275	0.40164	T	0.283548	0.78293	T	-0.557979	0.00261	T	-0.548512	0.17468	T	0.00313528897622283	0.00033	T	0.737926	0.35508	T	0.057750497	0.11534	0.07133077	0.15261	0.06577843	0.14090	0.07267152	0.15704	-2.86	0.08749	T	0.1138401736734748	0.10008	0.649	0.70901	P	.;.	.;.	-0.763119	0.01182	0.057	0.56351914956756033	0.05534	0.00944	0.03642	N	AEFDGBHCI	0.098805	0.19902	N	-1.74830152434135	0.00684	0.02953055	-1.90158491065381	0.00486	0.02153518	0.999999999991109	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	3.79	-7.52	0.01198	-1.116000	0.03397	-3.917000	0.02454	-1.665000	0.00808	0.011000	0.18532	0.000000	0.08366	0.011000	0.09372	0.0:0.409:0.1149:0.4761	7.814	0.28412	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001514	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2495.43	33	chr19	1223126	.	C	G	2495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.972;DP=537;ExcessHet=0;FS=2.966;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=-0.849;SOR=0.854	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1273	9	0	1	0
chr19	1482081	1482081	C	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon15:c.G1946T:p.C649F	.	425	1096	1	0	0	1	0.000455996	.	.	.	2815102	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0060	0.00199681	0.0047	0.0009	0	0	0.0417	0.0112	0	0.0003	0.0023738	367	154602	rs78359732	0.0099	0.0096	0.0101	0.0097	0.0120	0.0098	0.0097	0.0118	0.0117	0.0012	0.0027	0.0007	0	0.0027	0	0.0120	0.0099	0.0003	0.0054	0.0054	0.0061	0.0048	0.0099	0.0051	0.0050	0.0093	0.0090	0.0017	0	0.0026	0	0	0.0028	0	0.0099	0.0047	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.94	0.52768	P	0.564	0.49695	P	0.013495	0.28825	U	0.230057	1	0.08975	N	2.61	0.76335	M	-1.09	0.77206	T	-6.95	0.93475	D	0.552	0.57775	-0.4212	0.71353	T	0.397	0.74951	T	10	0.010106891	0.00226	T	.	.	.	0.256	0.56694	.	.	0.604448947905	0.60128	0.9259797671004093	0.92574	0.793273405956	0.65909	0.513420581818	0.40701	T	0.736539	0.92668	D	-0.299283	0.08727	T	-0.195284	0.55092	T	0.0976235792380246	0.12093	T	0.527447	0.17405	T	0.71563065	0.78919	0.5579329	0.74427	0.71563065	0.78920	0.5579329	0.74428	-15.876	0.97569	D	.	.	0.911	0.83519	P	.	.	2.769284	0.36341	20.2	0.98154600230988309	0.38722	0.21451	0.21406	N	AEFDBI	0.209846	0.33579	N	-0.225323071609274	0.32097	1.806569	-0.471306364129177	0.22949	1.249011	0.739921853871163	0.23195	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.86	2.79	0.31792	0.832000	0.27143	1.302000	0.25481	0.520000	0.23804	0.005000	0.17040	0.049000	0.21787	0.018000	0.11154	0.0:0.8554:0.0:0.1446	6.657	0.22185	970	0.06235	.	DAZAP1|AC004156.3|CIRBP	Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Nerve_Tibial	FGF22	Skin_Sun_Exposed_Lower_leg	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002629	0.000000	0.000000	0.005988	0.000000	0.000000	0.006623	0.003876	0.05	529.43	40	chr19	1482081	.	C	A	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.573;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.632;SOR=0.698	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1114	9	0	1	0
chr19	1619162	1619162	T	C	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon16:c.A1399G:p.S467G,TCF3:NM_001351778:exon16:c.A1396G:p.S466G,TCF3:NM_001351779:exon16:c.A1399G:p.S467G,TCF3:NM_003200:exon16:c.A1399G:p.S467G	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0553090472168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.32296	T	0.133	0.35205	T	0.003	0.11197	B	0.004	0.12133	B	0.517640	0.11777	N	0.795267	0.921956	0.36704	D	1.9	0.50570	L	0.57	0.54347	T	-2.44	0.58896	N	0.195	0.27077	-0.6670	0.61964	T	0.241	0.60857	T	10	0.12659332	0.24068	T	0.055309	0.66184	D	0.063	0.18251	0.145	0.04843	0.54848712621	0.54504	0.22248688467334266	0.22163	0.0337965628679	0.03547	0.549770772457	0.45825	T	0.673285	0.90327	D	-0.142934	0.29423	T	-0.443091	0.28463	T	0.0961645888915409	0.11929	T	0.79722	0.44782	T	0.19499446	0.41271	0.0837528	0.19218	0.19499446	0.41271	0.0837528	0.19218	-2.79	0.08092	T	0.2070601033968039	0.27666	0.060	0.04477	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.740851	0.22151	15.50	0.98389309481552245	0.40936	0.42130	0.26810	N	AEFDBCI	0.181369	0.30869	N	-0.21834914043765	0.32381	1.82555	-0.186777367954665	0.32022	1.817742	0.224299795386438	0.18392	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.94	2.86	0.32427	0.080000	0.14657	0.411000	0.18111	0.665000	0.62972	0.191000	0.24200	0.624000	0.25831	0.427000	0.27384	0.3568:0.1361:0.0:0.507	3.060	0.05822	970	0.06235	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2469.43	34	chr19	1619162	.	T	C	2469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.865;DP=521;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.126;SOR=0.526	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1363	9	0	1	0
chr19	1621909	1621911	GAG	-	exonic	TCF3	.	nonframeshift deletion	TCF3:NM_001136139:exon11:c.882_884del:p.S295del,TCF3:NM_001351778:exon11:c.882_884del:p.S295del,TCF3:NM_001351779:exon11:c.882_884del:p.S295del,TCF3:NM_003200:exon11:c.882_884del:p.S295del	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	338	1182	2	0	0	2	0.000845309	.	.	.	728000	not_provided|TCF3-related_disorder|Agammaglobulinemia_8,_autosomal_dominant	MedGen:C3661900|.|MONDO:MONDO:0014840,MedGen:C4310786,OMIM:616941	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0022	0.000998403	0.0036	0.0006	0.0019	0.0009	0	0.0057	0.0029	0.0006	0.0018111	280	154602	rs550914200	0.0031	0.0031	0.0032	0.0031	0.0038	0.0031	0.0030	0.0037	0.0037	0.0009	0.0012	0.0002	5.101e-05	0.0007	0.0030	0.0038	0.0023	0.0006	0.0020	0.0019	0.0020	0.0019	0.0035	0.0018	0.0017	0.0031	0.0030	0.0007	0	0.0010	0.0006	0.0004	0.0005	0.0034	0.0035	0.0014	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003557	0.000000	0.010929	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1445.39	33	chr19	1621908	.	TGAG	T	1445.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.74;DP=405;ExcessHet=0;FS=7.108;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.21;ReadPosRankSum=-0.306;SOR=1.087	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1168	9	0	1	0
chr19	1787158	1787158	A	T	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon25:c.T2987A:p.L996H,ATP8B3:NM_138813:exon25:c.T3098A:p.L1033H	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.791	.	0.0007	0.00259585	0.0030	0	0.0010	0	0	0.0016	0.0108	0.0136	0.0020181	312	154602	rs200106210	0.0015	0.0015	0.0012	0.0018	0.0113	0.0014	0.0014	0.0100	0.0098	8.972e-05	0.0007	0.0128	2.523e-05	1.886e-05	0.0113	0.0006	0.0027	0.0106	0.0011	0.0011	0.0010	0.0011	0.0100	0.0009	0.0009	0.0077	0.0069	2.406e-05	0	0.0003	0.0124	0	0	0.0102	0.0009	0.0009	0.0100	0.001	0.78490	D	0.021	0.58089	D	0.998	0.73220	D	0.816	0.58888	P	0.000065	0.52346	D	0.078047	0.980305	0.39652	D	3.67	0.94359	H	-2.62	0.90017	D	-5.45	0.85468	D	0.814	0.80964	0.959	0.96523	D	0.858	0.95258	D	10	0.019571215	0.00439	T	.	.	.	0.791	0.93108	.	.	0.894014465091	0.89296	0.53269945904347	0.53194	0.478852830938	0.46947	0.497497439384	0.38479	T	0.414104	0.76776	T	-0.0160005	0.49420	T	0.213635	0.83852	D	0.127613595384541	0.15159	T	0.715628	0.32820	T	0.72139674	0.79239	0.6979147	0.82208	0.77133715	0.82130	0.7310875	0.84111	-13.241	0.90331	D	.	.	0.541	0.66394	A	.;.	.;.	4.184609	0.63024	24.5	0.98070360785366339	0.38023	0.97819	0.77366	D	AEFGBHCI	0.911787	0.87154	D	0.537951208265048	0.69350	5.34464	0.353545343044294	0.58720	4.044432	0.99999724342468	0.74766	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.25	4.25	0.49658	8.782000	0.91448	10.816000	0.83832	0.750000	0.87069	1.000000	0.71638	0.996000	0.32793	0.074000	0.16894	1.0:0.0:0.0:0.0	12.823	0.57087	988	0.01987	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004028	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.007576	0.05	724.43	33	chr19	1787158	.	A	T	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.122;DP=359;ExcessHet=0;FS=3.515;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.008;SOR=0.626	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	1805931	1805931	C	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon9:c.G619C:p.E207Q,ATP8B3:NM_138813:exon9:c.G778C:p.E260Q	.	429	1090	2	0	1	3	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.0504869883364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.72454	0.33653	D	3.605	0.93784	H	-1.29	0.79475	T	-2.56	0.60188	D	0.561	0.71143	0.765	0.93982	D	0.686	0.89165	D	10	0.66654754	0.70461	D	0.050487	0.64262	D	0.468	0.76289	0.387	0.40788	0.891256671117	0.89018	0.6913434148138818	0.69074	0.440762058902	0.44078	0.511945188046	0.40494	T	0.686729	0.90854	D	0.0571413	0.59253	T	-0.155697	0.58736	T	0.994954526424408	0.86582	D	0.957004	0.87589	D	0.8680031	0.88704	0.67476267	0.80905	0.8680031	0.88706	0.67476267	0.80906	-10.476	0.76709	D	.	.	0.416	0.62869	A	.;.;.	.;.;.	4.847063	0.79187	27.1	0.99807380318874994	0.89174	0.97687	0.76416	D	AEFBI	0.509873	0.53916	D	0.609865490429506	0.73797	6.025351	0.503700896441069	0.68238	5.19267	0.0252085331082764	0.13633	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.75	3.75	0.42236	3.950000	0.56384	7.432000	0.58801	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	14.679	0.68613	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1560.43	33	chr19	1805931	.	C	G	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.31;DP=447;ExcessHet=0;FS=2.406;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-0.586;SOR=0.926	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1080	9	0	1	0
chr19	1816442	1816442	G	C	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon14:c.C3445G:p.L1149V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0185939576694	.	.	1.861e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs780598344	4.796e-06	4.788e-06	0	9.641e-06	8.12e-05	1.99e-06	1.28e-06	3.767e-05	2.663e-05	0	0	0	0	0	0	0	0	8.12e-05	6.569e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.355	0.12109	T	0.113	0.36901	T	0.563	0.38396	P	0.374	0.43683	B	0.000036	0.55875	D	0.123056	0.832777	0.34944	D	2.3	0.65703	M	1.94	0.22678	T	-1.87	0.43717	N	0.411	0.45142	-1.0575	0.12388	T	0.052	0.21999	T	10	0.29645532	0.47210	T	0.018594	0.40703	T	0.107	0.30369	0.513	0.61153	0.218628672733	0.21463	0.5041923986478717	0.50341	0.495459876918	0.48080	0.606400847435	0.53808	T	0.040496	0.25546	T	-0.294518	0.09186	T	-0.457232	0.26900	T	0.717337608337402	0.41565	D	0.960404	0.85096	D	0.0865907	0.20133	0.07845002	0.17573	0.0865907	0.20133	0.07845002	0.17572	-7.791	0.59637	D	.	.	0.329	0.55117	B	.;.	.;.	3.567158	0.50221	22.9	0.99735659099986684	0.83119	0.93340	0.57955	D	AEFBI	0.675959	0.64116	D	0.121527742664544	0.47469	2.97213	0.119392877966648	0.45541	2.816	0.00164438703123643	0.08740	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.01	2.97	0.33479	4.751000	0.61865	3.761000	0.39718	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.768000	0.36443	0.3088:0.0:0.6912:0.0	4.276	0.10258	952	0.10565	Exonuclease, RNase T/DNA polymerase III|RNA exonuclease 1-like, exonuclease domain;Exonuclease, RNase T/DNA polymerase III|Exonuclease, RNase T/DNA polymerase III|RNA exonuclease 1-like, exonuclease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	567.43	36	chr19	1816442	.	G	C	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.12;DP=399;ExcessHet=0;FS=6.064;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=-1.538;SOR=0.877	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1303	9	0	1	0
chr19	1923156	1923156	C	T	exonic	SCAMP4	.	nonsynonymous SNV	SCAMP4:NM_001329539:exon5:c.C350T:p.S117L,SCAMP4:NM_001329540:exon5:c.C380T:p.S127L,SCAMP4:NM_079834:exon6:c.C482T:p.S161L	.	415	1057	47	3	0	53	0.0244578	.	.	.	2815119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.0181471237354	0.0012	0.000998403	0.0044	0	0	0	0	0.0032	0	0.0089	0.0011707	181	154602	rs201575102	0.0017	0.0017	0.0015	0.0019	0.0109	0.0016	0.0016	0.0087	0.0082	0.0004	0.0028	0.0098	2.795e-05	4.059e-05	0.0109	0.0010	0.0030	0.0090	0.0012	0.0012	0.0012	0.0013	0.0085	0.0011	0.0010	0.0064	0.0057	0.0003	0	0.0017	0.0072	0	9.427e-05	0	0.0012	0.0028	0.0085	0.666	0.04616	T	0.662	0.08961	T	0.178	0.28960	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.47	0.36993	L	2.26	0.17596	T	-0.72	0.28703	N	0.507	0.55280	-1.0258	0.21821	T	0.032	0.13548	T	9	0.010071874	0.00225	T	0.018147	0.40116	T	0.063	0.18251	.	.	0.168933306366	0.16529	0.8777534529285248	0.87742	0.185573042328	0.20862	0.556228518486	0.46735	T	0.008228	0.07566	T	-0.505838	0.00530	T	-0.491987	0.23182	T	0.0164431426993568	0.00410	T	0.80282	0.45805	T	0.14684372	0.33596	0.11954387	0.28853	0.14684372	0.33596	0.11954387	0.28852	-4.346	0.46877	T	.	.	0.261	0.52385	B	.;.;.;.	.;.;.;.	2.687015	0.35067	19.80	0.95875198977648801	0.28060	0.67837	0.33578	D	AEFGBI	0.284643	0.39746	N	-0.370526598003247	0.26525	1.448272	-0.282638707139203	0.28670	1.60032	0.997094890971606	0.35269	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	2.002000	0.40454	5.853000	0.50357	0.599000	0.40250	0.473000	0.26745	1.000000	0.68203	0.103000	0.18424	0.0:0.9128:0.0:0.0872	10.727	0.45273	988	0.01987	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009937	0.005051	0.005682	0.018072	0.000000	0.027273	0.009677	0.000000	0.05	1241.43	40	chr19	1923156	.	C	T	1241.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.495;DP=391;ExcessHet=0;FS=4.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=-0.059;SOR=1.256	GT:AD:DP:GQ:PL	0/1:31,49:80:99:1253,0,663	9	0	1	0
chr19	2120961	2120961	G	A	exonic	AP3D1	.	nonsynonymous SNV	AP3D1:NM_001261826:exon14:c.C1382T:p.A461V,AP3D1:NM_001374799:exon14:c.C1382T:p.A461V,AP3D1:NM_003938:exon14:c.C1382T:p.A461V	.	.	.	.	.	.	.	.	.	.	.	2240229	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00352789778742	0.0002	.	3.347e-05	0	0	0	0	6.075e-05	0	0	2.59e-05	4	154602	rs374029882	1.439e-05	1.505e-05	1.636e-05	1.239e-05	0.0003	9.24e-06	7.85e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.529e-05	0	2.319e-05	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.291	0.14945	T	0.292	0.21210	T	0.513	0.37366	P	0.112	0.31615	B	0.070585	0.21529	N	0.503387	1	0.08975	N	0.83	0.20963	L	1.71	0.26737	T	0.05	0.06369	N	0.16	0.20660	-1.0373	0.18140	T	0.035	0.15030	T	10	0.15526417	0.29267	T	0.003528	0.08031	T	0.033	0.08068	.	.	0.442105453903	0.43831	0.11815798202345687	0.11742	0.832042045282	0.67660	0.292900800705	0.09346	T	0.071818	0.34303	T	-0.367211	0.03738	T	-0.634798	0.10053	T	0.0579557307064533	0.06843	T	0.838916	0.54589	T	0.033929966	0.03710	0.040078957	0.04250	0.033929966	0.03710	0.040078957	0.04249	-5.081	0.37706	T	.	.	0.072	0.04806	B	.;.;.;.;.	.;.;.;.;.	1.209614	0.16023	12.27	0.9761216598911816	0.34915	0.12558	0.17342	N	AEFDBHI	0.093464	0.18910	N	-0.83575019366947	0.12403	0.6043873	-0.923357880085977	0.11543	0.5887237	5.20928927127161E-4	0.07201	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.67	-0.774	0.10437	1.953000	0.39977	2.860000	0.35197	0.676000	0.76740	0.043000	0.21118	0.091000	0.22535	0.014000	0.10232	0.6174:0.0:0.3826:0.0	7.978	0.29330	946	0.12043	Clathrin/coatomer adaptor, adaptin-like, N-terminal;.;.;Clathrin/coatomer adaptor, adaptin-like, N-terminal;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3046.43	33	chr19	2120961	.	G	A	3046.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.691;DP=529;ExcessHet=0;FS=2.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=2.9;SOR=0.893	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1348	9	0	1	0
chr19	2226215	2226215	G	A	exonic	DOT1L	.	nonsynonymous SNV	DOT1L:NM_032482:exon27:c.G3694A:p.A1232T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0137651842955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954955213	1.602e-05	1.915e-05	1.714e-05	1.485e-05	2.958e-05	1.049e-05	8.96e-06	8.88e-06	7.19e-06	0	2.958e-05	9.344e-05	0	0	0	1.5e-05	3.538e-05	1.373e-05	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.013	0.53900	D	0.278	0.21812	T	0.024	0.19075	B	0.002	0.06944	B	0.878134	0.08775	N	0.940200	1	0.08975	N	1.43	0.35840	L	1.91	0.31470	T	-0.87	0.35991	N	0.075	0.04913	-0.9872	0.33298	T	0.051	0.21806	T	10	0.059856266	0.07262	T	0.013765	0.33405	T	0.050	0.13987	0.132	0.03662	0.336424232111	0.33258	0.12215441885091569	0.12142	0.294171915598	0.31839	0.329987496138	0.14932	T	0.082659	0.36877	T	-0.281494	0.10511	T	-0.642123	0.09516	T	0.060081005247755	0.07182	T	0.692831	0.30243	T	0.053712424	0.10204	0.048356146	0.07165	0.053712424	0.10204	0.048356146	0.07165	-4.74	0.33884	T	.	.	0.067	0.03128	B	.;.	.;.	0.542586	0.09114	5.895	0.98151137049267256	0.38688	0.08342	0.14284	N	AEFBCI	0.039019	0.05607	N	-0.80768897940767	0.13113	0.6437696	-0.864838229289158	0.12931	0.6680471	0.00171354335458361	0.08808	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.49	0.857	0.18162	0.104000	0.15148	0.558000	0.19484	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.002000	0.04165	0.1521:0.2621:0.4341:0.1517	2.486	0.04318	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2160.43	35	chr19	2226215	.	G	A	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=476;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.211;SOR=0.904	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr19	2251328	2251328	C	T	exonic	AMH	.	nonsynonymous SNV	AMH:NM_000479:exon5:c.C1054T:p.P352S	Persistent Mullerian duct syndrome, type I, Autosomal recessive	3	1516	3	0	0	3	0.000988468	.	.	.	1294004	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.217	0.929583967051	.	.	0	0	0	0	.	0	0	0	7.76e-05	12	154602	rs764049634	0.0009	0.0009	0.0009	0.0010	0.0011	0.0009	0.0009	0.0010	0.0010	0.0003	0.0002	0.0012	0	9.003e-05	0	0.0011	0.0011	9.303e-05	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0005	0.0011	0.0010	0.0001	0	0.0002	0.0009	0	0	0.0034	0.0013	0.0005	0	0.042	0.41637	D	0.0	0.92824	D	0.058	0.22967	B	0.042	0.24114	B	0.613208	0.10846	U	0.794111	1	0.08975	N	2.485	0.72352	M	-1.64	0.82533	D	-0.8	0.22078	N	0.157	0.16308	-0.5720	0.65935	T	0.422	0.76690	T	10	0.18485287	0.33879	T	0.929584	0.99489	D	0.217	0.51112	.	.	0.743774606261	0.74147	0.20893410733524342	0.20809	2.0454015372	0.94308	0.771631240845	0.77668	T	0.313025	0.68480	T	-0.370469	0.03570	T	-0.355371	0.38588	T	0.0411444371634786	0.03898	T	0.511449	0.16356	T	0.032263376	0.03219	0.03507361	0.02690	0.032263376	0.03218	0.03507361	0.02689	-5.091	0.37812	T	.	.	0.111	0.21466	B	.	.	2.244472	0.28667	17.87	0.93440069400700387	0.23217	0.11701	0.16806	N	AEFDBCI	0.100988	0.20294	N	-0.899655074734455	0.10850	0.520583	-0.972017803758207	0.10417	0.5245016	0.999646402427622	0.41316	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.620976	0.48614	0	.	.	3.12	2.06	0.25932	2.899000	0.48378	2.268000	0.31810	0.430000	0.20916	0.096000	0.22710	0.060000	0.22018	0.078000	0.17132	0.0:0.8857:0.0:0.1143	9.464	0.37967	982	0.03397	Anti-Mullerian hormone, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000780	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.05	596.43	36	chr19	2251328	.	C	T	596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.038;DP=295;ExcessHet=0;FS=1.366;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=1.58;SOR=0.869	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,625	9	0	1	0
chr19	2278630	2278630	C	T	exonic	PEAK3	.	nonsynonymous SNV	PEAK3:NM_198532:exon3:c.G566A:p.R189H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0689209612997	.	0.000199681	2.952e-05	0.0001	0	0	0	1.705e-05	0	0.0001	2.59e-05	4	154602	rs573675978	7.407e-06	9.577e-06	2.897e-06	1.213e-05	5.237e-05	3.75e-06	2.73e-06	1.153e-05	6.2e-06	0	0	0	5.237e-05	0	0	3.783e-06	1.801e-05	4.344e-05	6.564e-06	6.562e-06	0	1.342e-05	2.405e-05	0	0	.	.	2.405e-05	0	0	0	0	0	0	0	0	0	0.029	0.45756	D	0.0	0.92824	D	1.0	0.90584	D	0.983	0.75793	D	.	.	.	.	0.869982	0.28222	N	.	.	.	2.41	0.15492	T	-1.83	0.42957	N	0.502	0.53445	-1.0533	0.13493	T	0.096	0.36133	T	9	0.368971	0.53325	T	0.068921	0.70586	D	0.212	0.50341	0.486	0.56939	0.376216005999	0.37235	0.3685832522242355	0.36772	0.671657670081	0.59470	0.69732093811	0.66757	T	0.016474	0.13610	T	-0.239237	0.15447	T	-0.394251	0.34054	T	0.647868394851685	0.38371	D	0.649135	0.25986	T	0.11828602	0.27871	0.1308974	0.31443	0.11828602	0.27871	0.1308974	0.31443	-8.526	0.64601	D	.	.	0.233	0.46619	B	.	.	3.824449	0.55248	23.6	0.99922450379713734	0.98852	0.76879	0.37742	D	AEFDBHCI	0.195545	0.32257	N	0.253482221050617	0.53811	3.548544	0.153809363342835	0.47344	2.96607	0.999990921859323	0.74766	0.536635	0.22144	0	0.611049	0.52481	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	4.37	4.37	0.51830	1.806000	0.38530	0.169000	0.15496	0.513000	0.23382	0.921000	0.31989	0.009000	0.19889	0.056000	0.15673	0.0:1.0:0.0:0.0	13.631	0.61664	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	568.43	33	chr19	2278630	.	C	T	568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.281;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=-0.307;SOR=0.763	GT:AD:DP:GQ:PL	0/1:21,24:45:99:580,0,493	9	0	1	0
chr19	2421948	2421948	A	C	exonic	TMPRSS9	.	nonsynonymous SNV	TMPRSS9:NM_001385642:exon14:c.A1553C:p.K518T,TMPRSS9:NM_182973:exon14:c.A2147C:p.K716T	.	423	1092	7	0	0	7	0.00319489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.218524965312	7.7e-05	0.000399361	0.0003	9.731e-05	0	0	0	0.0002	0.0023	0.0012	0.0002458	38	154602	rs200218981	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	0.0001	0.0001	0.0002	0	0	0.0031	7.285e-05	0.0003	0.0010	0.0002	0.0002	0.0002	0.0002	0.0014	0.0001	9.694e-05	0.0007	0.0005	9.621e-05	0	0	0.0006	0	0	0.0102	0.0001	0	0.0014	0.049	0.39820	D	0.108	0.37589	T	0.934	0.52202	P	0.688	0.53700	P	0.000810	0.41658	D	0.106373	0.971937	0.38908	D	-0.045	0.04980	N	-2.51	0.89293	D	-3.79	0.71639	D	0.303	0.34228	-0.0136	0.81973	T	0.531	0.82593	D	10	0.044545382	0.03424	T	0.218525	0.87662	D	0.402	0.71558	.	.	0.832739032746	0.83115	0.6063347089036045	0.60564	0.347782444603	0.36658	0.240099936724	0.02799	T	0.238331	0.60621	T	-0.266684	0.12128	T	-0.206291	0.54050	T	0.0920588615031339	0.11460	T	0.833117	0.50161	T	0.18503538	0.39847	0.09095931	0.21359	0.18503538	0.39847	0.09095931	0.21359	-9.09	0.68273	D	.	.	0.184	0.47513	B	.;.;.;.	.;.;.;.	0.653371	0.10217	6.956	0.99612385780692692	0.74873	0.40429	0.26434	N	AEFDGBHCI	0.249309	0.36956	N	-0.379438831198932	0.26203	1.428258	-0.506838112446382	0.21966	1.19088	0.711336291501599	0.22823	0.660377	0.49826	0	0.577304	0.33150	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.48	3.43	0.38372	1.636000	0.36758	0.257000	0.16498	-0.054000	0.16847	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.8965:0.0:0.1035:0.0	8.244	0.30836	964	0.07719	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.008772	0.000000	0.008621	0.006098	0.000000	0.05	1748.43	159	chr19	2421948	.	A	C	1748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.324;DP=483;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.162;SOR=0.599	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1130	9	0	1	0
chr19	2933605	2933607	GAA	-	exonic	ZNF77	.	nonframeshift deletion	ZNF77:NM_021217:exon4:c.1520_1522del:p.L507del	.	410	1107	4	1	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00199681	0.0020	0.0008	0.0010	0	0.0020	0.0021	0	0.0041	0.0001811	28	154602	rs565530193	0.0029	0.0029	0.0028	0.0030	0.0066	0.0028	0.0028	0.0049	0.0046	0.0003	0.0010	7.654e-05	0	0.0015	0.0066	0.0031	0.0026	0.0052	0.0017	0.0017	0.0018	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0004	0	0.0024	0	0	0.0024	0.0034	0.0024	0.0028	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	3190.39	93	chr19	2933604	.	CGAA	C	3190.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.926;DP=1071;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.72;ReadPosRankSum=0.412;SOR=0.779	GT:AD:DP:GQ:PL	0/0:93,0:93:99:0,120,1800	9	0	1	0
chr19	2934622	2934622	G	T	exonic	ZNF77	.	nonsynonymous SNV	ZNF77:NM_021217:exon4:c.C505A:p.Q169K	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00381560902365	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	6.5e-06	1	154602	rs773146315	4.036e-05	4.173e-05	3.539e-05	4.538e-05	5.126e-05	3.179e-05	2.91e-05	4.005e-05	3.658e-05	0	0	0	0	0	0	5.126e-05	3.312e-05	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	6.555e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.555e-05	0	0	0	0	4.41e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.07	0.01043	N	5.2	0.01165	T	0.94	0.01529	N	0.063	0.03502	-0.9197	0.45594	T	0.001	0.00348	T	9	0.03154379	0.01291	T	0.003816	0.08899	T	0.051	0.14325	0.419	0.46036	0.143124449307	0.13826	0.029400167064681695	0.02889	0.0733574000126	0.08227	0.196183815598	0.00354	T	0.028399	0.20579	T	-0.343133	0.05174	T	-0.730663	0.04298	T	0.0201581377414037	0.00716	T	0.708429	0.31914	T	0.02448798	0.01285	0.040775493	0.04483	0.02448798	0.01285	0.040775493	0.04482	-0.174	0.00417	T	.	.	0.067	0.02518	B	.	.	-1.520908	0.00282	0.005	0.25819487483597159	0.01208	0.00002	0.00064	N	AEFBCI	0.031722	0.03446	N	-1.55604749293839	0.01500	0.06547266	-1.52390752913598	0.02161	0.09897872	3.39794087705124E-5	0.03775	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.93	-3.38	0.04577	0.279000	0.18532	-10.707000	0.00674	-0.171000	0.11205	0.001000	0.13787	0.000000	0.08366	0.025000	0.12405	0.0:0.3298:0.2361:0.4342	5.729	0.17297	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1955.43	36	chr19	2934622	.	G	T	1955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.873;DP=519;ExcessHet=0;FS=1.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.971;SOR=0.565	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr19	2991892	2991892	T	C	exonic	TLE6	.	nonsynonymous SNV	TLE6:NM_024760:exon13:c.T925C:p.Y309H,TLE6:NM_001143986:exon14:c.T1294C:p.Y432H	Preimplantation embryonic lethality, Autosomal recessive	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00560817857747	0.0003	0.000199681	0.0007	9.612e-05	0.0002	0	0	0.0007	0	0.0021	0.0006015	93	154602	rs148540573	0.0004	0.0004	0.0003	0.0005	0.0019	0.0004	0.0004	0.0016	0.0016	0.0001	0.0003	0.0052	2.519e-05	0	0.0014	0.0002	0.0006	0.0019	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0004	2.41e-05	0	0.0004	0.0020	0	0	0.0034	0.0005	0.0005	0.0010	0.053	0.38863	T	0.206	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.83	0.10771	T	-0.4	0.13805	N	0.166	0.17553	-1.0422	0.16651	T	0.020	0.08453	T	9	0.007812589	0.00177	T	0.005608	0.14500	T	0.042	0.11227	.	.	0.341934017632	0.33809	0.19031741766222754	0.18949	0.0813673231391	0.09155	0.33832013607	0.16186	T	0.039216	0.25113	T	-0.696276	0.00038	T	-0.780192	0.02448	T	0.0177759870061575	0.00506	T	0.489851	0.16619	T	0.03579766	0.04282	0.035318732	0.02761	0.036575682	0.04525	0.03242879	0.01978	-1.367	0.01513	T	.	.	0.085	0.18663	B	.;.	.;.	-0.051813	0.03937	0.876	0.18496055640184669	0.00584	0.00717	0.03025	N	AEFBI	0.033380	0.03948	N	-1.08324507703957	0.06951	0.3215063	-1.28026040472279	0.04697	0.2221896	1.32155205067531E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	3.09	-4.28	0.03475	0.647000	0.24500	-1.282000	0.05824	-0.757000	0.03535	0.023000	0.19925	0.000000	0.08366	0.001000	0.02609	0.1551:0.2407:0.4833:0.1209	3.279	0.06500	988	0.01987	WD40-repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	973.43	42	chr19	2991892	.	T	C	973.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.486;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=0.642;SOR=0.684	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr19	3543566	3543566	C	A	exonic	C19orf71	.	nonsynonymous SNV	C19orf71:NM_001135580:exon3:c.C334A:p.H112N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0372368786659	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1001730263	1.657e-05	1.779e-05	1.705e-05	1.607e-05	2.136e-05	1.103e-05	9.22e-06	1.422e-05	1.188e-05	0	0	0	0	0	0	2.136e-05	0	0	1.316e-05	1.314e-05	2.572e-05	0	2.943e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.943e-05	0	0	0.074	0.34621	T	0.15	0.32461	T	0.557	0.38282	P	0.208	0.37221	B	0.333854	0.14070	N	0.618704	0.967986	0.81001	N	1.445	0.36358	L	1.46	0.32238	T	-4.22	0.75854	D	0.222	0.24883	-1.0528	0.13628	T	0.066	0.27052	T	10	0.11646089	0.21969	T	0.037237	0.57491	D	0.033	0.08068	0.276	0.22845	0.0920862733494	0.08535	0.08188235058227927	0.08123	.	.	.	.	.	0.022662	0.17431	T	-0.205707	0.19988	T	-0.533261	0.18961	T	0.224771857261658	0.21699	T	0.677432	0.28627	T	0.21137129	0.43460	0.221466	0.46958	0.21137129	0.43460	0.221466	0.46957	-4.341	0.28748	T	.	.	0.323	0.54718	B	.	.	2.845984	0.37562	20.5	0.98005277149306436	0.37513	0.80623	0.40213	D	AEFBCI	0.206746	0.33298	N	-0.200986721986876	0.33093	1.873689	-0.196505569096845	0.31665	1.794145	0.992459290176803	0.32845	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.51	3.47	0.38831	0.130000	0.15676	1.972000	0.29992	0.469000	0.21855	0.029000	0.20367	0.961000	0.29326	0.191000	0.21631	0.0:0.8897:0.0:0.1103	8.648	0.33178	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	678.43	40	chr19	3543566	.	C	A	678.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.093;DP=408;ExcessHet=0;FS=3.281;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.479;SOR=0.392	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1429	9	0	1	0
chr19	3574588	3574588	-	GGGCG	splicing	HMG20B	NM_006339:exon4:c.351+2->GGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs769689501	2.226e-05	2.326e-05	2.485e-05	1.962e-05	0.0001	1.611e-05	1.378e-05	4.107e-05	2.389e-05	0.0001	4.786e-05	0	0	0	0	2.085e-05	5.035e-05	0	8.554e-05	8.537e-05	9.009e-05	8.078e-05	0.0003	4.964e-05	3.968e-05	0.0001	0.0001	0.0003	0	6.556e-05	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	608.39	35	chr19	3574588	.	T	TGGGCG	608.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.719;DP=376;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.37;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	9	0	1	0
chr19	3599988	3599988	G	C	exonic	TBXA2R	.	nonsynonymous SNV	TBXA2R:NM_001060:exon2:c.C647G:p.T216R,TBXA2R:NM_201636:exon2:c.C647G:p.T216R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.301739077892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.815	0.81989	M	-0.72	0.72994	T	-4.0	0.74269	D	0.93	0.94550	0.182	0.85600	D	0.537	0.82911	D	10	0.9603721	0.95440	D	0.301739	0.90905	D	0.793	0.93188	0.838	0.94479	0.904398984465	0.90344	0.9502874882467663	0.95011	1.79259073175	0.91533	0.740241765976	0.73008	T	0.703087	0.91468	D	0.355092	0.86875	D	0.272289	0.86703	D	0.996451139450073	0.89378	D	0.908709	0.67605	D	0.8210688	0.85292	0.8166286	0.89323	0.8210688	0.85294	0.8166286	0.89323	-11.466	0.82559	D	0.8133081219546029	0.88780	0.873	0.82369	P	.;.	.;.	5.004811	0.83070	27.9	0.99126333787980847	0.53142	0.95041	0.63223	D	AEFDGBHCI	0.957688	0.97702	D	0.592655580110154	0.72715	5.84958	0.487292021220433	0.67148	5.045243	0.999999908410568	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	4.53	4.53	0.55009	6.725000	0.74561	8.478000	0.77291	0.499000	0.22661	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	0.0:0.0:1.0:0.0	16.211	0.81984	970	0.06235	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1387.43	39	chr19	3599988	.	G	C	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.05;DP=446;ExcessHet=0;FS=8.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.38;SOR=1.096	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1103	9	0	1	0
chr19	3633475	3633475	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.G1966A:p.A656T	Lethal congenital contractural syndrome 3, Autosomal recessive	2	1435	81	4	0	89	0.0300777	.	.	.	728142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0094	0.00678914	0.0090	0.0071	0.0047	0.0003	0.0011	0.0105	0.0115	0.0190	0.0072767	1125	154602	rs35014191	0.0089	0.0089	0.0086	0.0092	0.0245	0.0088	0.0087	0.0210	0.0197	0.0076	0.0036	0.0119	0.0001	0.0021	0.0245	0.0091	0.0097	0.0148	0.0072	0.0071	0.0077	0.0066	0.0095	0.0068	0.0067	0.0087	0.0085	0.0058	0	0.0060	0.0101	0.0002	0.0012	0.0137	0.0093	0.0109	0.0095	0.654	0.04786	T	0.289	0.21078	T	0.0	0.02946	B	0.0	0.01387	B	0.166351	0.17507	N	0.500976	0.999999	0.58761	D	0.46	0.12951	N	1.77	0.25841	T	-0.18	0.09796	N	0.221	0.24758	-0.9682	0.37571	T	0.014	0.05513	T	10	0.0037704706	0.00070	T	.	.	.	0.044	0.11924	.	.	0.2338531098	0.23012	.	.	0.312340773906	0.33537	0.507543921471	0.39879	T	0.061217	0.31596	T	-0.697437	0.00038	T	-0.762273	0.03031	T	0.0212357035127134	0.00825	T	0.524848	0.17228	T	0.02699458	0.01829	0.05359838	0.09058	0.020723399	0.00641	0.05359838	0.09057	-3.673	0.18920	T	.	.	0.065	0.01859	B	.	.	0.556133	0.09249	6.029	0.95846893947190781	0.27981	0.09924	0.15567	N	AEFDBI	0.030074	0.02958	N	-1.54024051632928	0.01592	0.0695826	-1.52061237559987	0.02186	0.1001557	0.0531868005994395	0.14930	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	-6.18	0.01906	-0.473000	0.06694	-0.968000	0.06755	-0.919000	0.02208	0.568000	0.27489	0.006000	0.19429	0.419000	0.27206	0.0:0.2685:0.0:0.7315	12.367	0.54565	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027919	0.015464	0.039402	0.014793	0.050000	0.008621	0.033951	0.018939	0.05	894.43	36	chr19	3633475	.	C	T	894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.974;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.821;SOR=0.701	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1089	9	0	1	0
chr19	3754018	3754018	C	T	splicing	APBA3	NM_004886:exon5:c.849+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.461e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs370070756	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.574e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290325	0.82182	D	0.179256	0.81953	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.352983	0.95067	34	0.99293071045697656	0.58326	0.99420	0.95802	D	AEFBI	.	.	.	0.921913712581023	0.92791	11.63105	0.694973464929064	0.81995	7.659161	0.999983778849116	0.51787	0.322412	0.05557	0	0.31918	0.05746	0	0.072005	0.02045	0	0.079188	0.02158	0	0.874145	0.54150	4.03	4.03	0.46115	7.721000	0.83731	7.438000	0.58849	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.0:1.0:0.0:0.0	15.506	0.75476	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1605.43	42	chr19	3754018	.	C	T	1605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.222;DP=471;ExcessHet=0;FS=3.28;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-0.083;SOR=1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1019	9	0	1	0
chr19	4164626	4164626	C	G	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon5:c.C697G:p.L233V,CREB3L3:NM_001271996:exon5:c.C694G:p.L232V,CREB3L3:NM_001271997:exon5:c.C700G:p.L234V,CREB3L3:NM_032607:exon5:c.C700G:p.L234V	.	426	1084	12	0	0	12	0.00550459	.	.	.	2107445	CREB3L3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.445	0.0865862899059	7.7e-05	0.00119808	0.0011	9.722e-05	0.0002	0	0	0.0005	0.0011	0.0060	0.0009379	145	154602	rs199855279	0.0006	0.0006	0.0003	0.0008	0.0065	0.0005	0.0005	0.0061	0.0059	5.974e-05	0.0002	0.0005	0	0	0.0035	0.0001	0.0007	0.0065	0.0004	0.0004	0.0003	0.0005	0.0064	0.0003	0.0003	0.0046	0.0040	2.406e-05	0	0.0003	0.0003	0	0	0	0.0003	0.0009	0.0064	0.05	0.39575	D	0.007	0.69154	D	0.662	0.43974	P	0.215	0.44011	B	0.000048	0.53742	D	0.077781	0.974887	0.39142	D	2.755	0.80505	M	-1.74	0.83413	D	-2.48	0.54059	N	0.509	0.62188	0.289	0.87388	D	0.632	0.87090	D	10	0.011080146	0.00244	T	0.086586	0.74767	D	0.445	0.74727	.	.	0.927350273213	0.92660	0.2954007802062201	0.29453	0.155983573288	0.17608	0.596422791481	0.52399	T	0.510736	0.82697	D	-0.325442	0.06462	T	-0.237361	0.51055	T	0.0582912226679409	0.06897	T	0.956904	0.83579	D	0.14352398	0.32983	0.13784626	0.32937	0.14352398	0.32982	0.13784626	0.32936	-9.073	0.68299	D	0.5323115917537679	0.60301	0.444	0.63886	A	.;.;.;.	.;.;.;.	2.419255	0.31107	18.64	0.99057696694821962	0.51413	0.92436	0.55708	D	AEFGBI	0.890591	0.82575	D	0.00695416808564403	0.42171	2.535917	-0.0506952438786307	0.37460	2.193625	3.90697413804634E-4	0.06781	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.99	2.81	0.31971	2.543000	0.45411	2.676000	0.33982	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1442:0.7757:0.0:0.0801	9.108	0.35871	946	0.12043	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	1128.43	36	chr19	4164626	.	C	G	1128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.939;DP=399;ExcessHet=0;FS=4.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-1.081;SOR=0.334	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1137	9	0	1	0
chr19	4171905	4171905	T	C	exonic	CREB3L3	.	nonsynonymous SNV	CREB3L3:NM_001271995:exon10:c.T1319C:p.V440A,CREB3L3:NM_001271996:exon10:c.T1316C:p.V439A,CREB3L3:NM_032607:exon10:c.T1322C:p.V441A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0847384949965	.	.	1.003e-05	0	0	0	0	1.849e-05	0	0	6.5e-06	1	154602	rs779615016	6.849e-07	6.84e-07	0	1.377e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.539	0.09795	T	0.0	0.07471	B	0.001	0.06944	B	0.404043	0.04552	N	1.545720	0.99998	0.30126	N	0.625	0.15840	N	-1.79	0.83893	D	-0.62	0.18248	N	0.036	0.07262	-0.8048	0.54861	T	0.260	0.63066	T	10	0.053468674	0.05542	T	0.084738	0.74389	D	0.173	0.43840	0.37	0.38013	0.685456958132	0.68276	0.09355673127751435	0.09287	0.121745610629	0.13719	0.386765539646	0.23212	T	0.081471	0.36606	T	-0.197287	0.21195	T	-0.521166	0.20175	T	0.0161838810890913	0.00393	T	0.341266	0.07400	T	0.03231076	0.03233	0.050798908	0.08046	0.03231076	0.03232	0.050798908	0.08045	-1.945	0.03026	T	.	.	0.072	0.04198	B	.;.;.	.;.;.	0.310590	0.06857	3.388	0.72996625140192917	0.10170	0.00321	0.01686	N	AEFDBCI	0.098657	0.19875	N	-1.18471501821477	0.05231	0.2379743	-1.18209270741944	0.06208	0.2981324	0.108116942133187	0.16574	0.59774	0.34471	0	0.610034	0.51514	0	0.596491	0.31596	0	0.542086	0.14980	0	.	.	3.83	0.221	0.14559	-0.207000	0.09388	-0.005000	0.13145	0.580000	0.29708	0.000000	0.06391	0.002000	0.18203	0.151000	0.20341	0.0:0.525:0.0:0.475	5.485	0.16038	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	809.43	36	chr19	4171905	.	T	C	809.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=1.68;SOR=0.739	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,971	9	0	1	0
chr19	4358129	4358129	A	G	exonic	MPND	.	nonsynonymous SNV	MPND:NM_001159846:exon9:c.A1133G:p.Y378C,MPND:NM_001300862:exon11:c.A1283G:p.Y428C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.216	0.0121096540249	.	.	9.336e-05	0	0	0	0	0.0002	0	0	2.59e-05	4	154602	rs747315621	1.93e-05	1.847e-05	1.551e-05	2.319e-05	3.165e-05	1.322e-05	1.133e-05	1.36e-06	9.9e-07	3.165e-05	0	0.0004	0	0	0	4.634e-06	0.0002	1.262e-05	3.941e-05	3.94e-05	6.422e-05	1.344e-05	9.646e-05	1.715e-05	1.129e-05	3.248e-05	1.914e-05	9.646e-05	0	0	0.0006	0	0	0	0	0	0	0.135	0.26192	T	0.007	0.69154	D	0.063	0.23376	B	0.04	0.23831	B	0.000000	0.84330	U	0.000000	0.99977	0.81001	D	.	.	.	.	.	.	-2.43	0.53258	N	0.455	0.50418	-0.9866	0.33445	T	0.137	0.45413	T	8	0.13556245	0.25795	T	0.01211	0.30386	T	0.216	0.50959	.	.	0.315903272564	0.31202	0.5737436554434296	0.57303	.	.	.	.	.	.	.	.	-0.253828	0.13633	T	-0.365714	0.37389	T	0.346722424030304	0.26890	T	0.849215	0.53201	T	.	.	.	.	.	.	.	.	-8.661	0.65491	D	.	.	0.154	0.34183	B	.;.	.;.	3.234185	0.44118	21.9	0.98377031217021416	0.40812	0.94803	0.62383	D	AEFDBHCI	0.849015	0.76584	D	-0.153972341567435	0.35066	2.009464	-0.0207007052070644	0.38781	2.289783	0.999908004981217	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.636168	0.56350	0	.	.	4.9	3.88	0.43959	5.574000	0.67124	3.036000	0.36061	0.691000	0.84096	1.000000	0.71638	0.957000	0.29195	0.993000	0.69303	0.9053:0.0:0.0947:0.0	8.521	0.32434	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	952.43	39	chr19	4358129	.	A	G	952.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.27;DP=422;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.376;SOR=0.407	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1351	9	0	1	0
chr19	4510758	4510758	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A3202G:p.T1068A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0125255011953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299046204	7.087e-06	7.524e-06	9.793e-06	4.309e-06	8.294e-06	3.58e-06	2.61e-06	3.9e-06	2.83e-06	0	0	0	0	0	0	8.294e-06	1.723e-05	0	1.97e-05	1.969e-05	1.285e-05	2.686e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	0.614	0.05404	T	0.189	0.28575	T	0.007	0.14184	B	0.015	0.17295	B	0.162466	0.17621	N	0.409334	1	0.08975	N	1.395	0.35261	L	3.73	0.03982	T	-1.1	0.28497	N	0.05	0.02179	-0.9152	0.46194	T	0.009	0.03271	T	10	0.07253334	0.10841	T	0.012526	0.31184	T	0.027	0.05988	0.21	0.12781	0.0297737177859	0.01360	0.05321918174000491	0.05263	.	.	0.278061419725	0.07223	T	0.011918	0.10560	T	-0.420443	0.01699	T	-0.841714	0.01073	T	0.031483456492424	0.02223	T	0.235876	0.03275	T	0.041209213	0.06027	0.027696185	0.00943	0.041209213	0.06027	0.027696185	0.00943	-3.396	0.15003	T	.	.	0.067	0.02993	B	.;.	.;.	-0.884582	0.00952	0.037	0.71893092685122273	0.09784	0.02209	0.06439	N	AEFDBCI	0.059753	0.11308	N	-1.29663781274889	0.03716	0.1664896	-1.4373978426608	0.02886	0.1336135	0.907118145340481	0.26250	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.65	-6.28	0.01844	-1.366000	0.02692	-7.510000	0.01142	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1257:0.2669:0.3819:0.2255	2.196	0.03673	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3596.14	109	chr19	4510758	.	T	C	3596.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.813;DP=929;ExcessHet=0.2348;FS=4.254;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.196;SOR=0.932	GT:AD:DP:GQ:PL	0/1:67,69:136:99:1781,0,1727	8	0	2	0
chr19	4511597	4511597	G	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.C2363G:p.T788S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.00419329	0.0014	0.0166	0.0007	0	0	6.053e-05	0	0.0002	0.0012936	200	154602	rs115045260	0.0004	0.0004	0.0004	0.0004	0.0138	0.0004	0.0004	0.0127	0.0123	0.0138	0.0007	4.439e-05	0	0	0.0015	3.536e-05	0.0009	4.157e-05	0.0035	0.0037	0.0036	0.0034	0.0122	0.0033	0.0032	0.0113	0.0109	0.0122	0	0.0012	0	0	0	0	9.147e-05	0.0015	0	0.322	0.13479	T	0.747	0.05128	T	0.112	0.26290	B	0.05	0.25278	B	0.521625	0.05205	N	1.362730	1	0.08975	N	1.795	0.47270	L	3.45	0.05311	T	-1.5	0.36586	N	0.105	0.08925	-0.9391	0.42759	T	0.009	0.03183	T	10	0.004151106	0.00082	T	.	.	.	0.061	0.17616	0.363	0.36874	0.0401082797425	0.02173	0.023888255436604725	0.02339	.	.	0.26491600275	0.05490	T	0.012856	0.11224	T	-0.683044	0.00046	T	-0.742245	0.03796	T	0.0163744631013981	0.00405	T	0.460054	0.13307	T	0.06763664	0.14664	0.05834863	0.10766	0.06763664	0.14664	0.05834863	0.10765	-4.679	0.33149	T	.	.	0.103	0.18331	B	.;.	.;.	0.177782	0.05660	2.107	0.80674651622318982	0.13315	0.09388	0.15154	N	AEFDBCI	0.095467	0.19287	N	-1.17546817825882	0.05372	0.244761	-1.25279074790973	0.05090	0.2416957	1.88150629742845E-4	0.05844	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.63	-2.52	0.05978	-0.117000	0.10681	-5.224000	0.01800	0.670000	0.69193	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5845:0.4155:0.0	17.563	0.87809	946	0.12043	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004541	0.000000	0.012228	0.000000	0.000000	0.000000	0.000000	0.000000	0.0625	4213.78	261	chr19	4511597	.	G	C	4213.78	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2.63;DP=4707;ExcessHet=0;FS=13.821;InbreedingCoeff=0.3464;MLEAC=1;MLEAF=0.063;MQ=58.87;MQRankSum=-1.846;QD=10.69;ReadPosRankSum=-3.2;SOR=0.659	GT:AD:DP:GQ:PL	0/0:371,0:371:99:0,120,1800	7	0	1	2
chr19	4512102	4512102	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A1858G:p.M620V	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0041	0.00379393	0.0013	0.0144	0.0004	0	0	5.994e-05	0	0.0003	0.0012225	189	154602	rs141457177	0.0004	0.0005	0.0004	0.0004	0.0150	0.0004	0.0004	0.0139	0.0135	0.0150	0.0007	4.339e-05	2.781e-05	9.697e-05	0.0035	2.235e-05	0.0008	5.846e-05	0.0049	0.0073	0.0052	0.0045	0.0181	0.0045	0.0044	0.0168	0.0163	0.0181	0.0015	0.0016	0	0.0003	0.0003	0	0.0002	0.0025	0	0.463	0.08660	T	0.716	0.05470	T	0.0	0.02946	B	0.0	0.01387	B	0.330847	0.04130	N	1.625020	1	0.08975	N	-0.855	0.01474	N	3.53	0.04852	T	-0.32	0.12283	N	0.066	0.03841	-1.0155	0.25175	T	0.003	0.01092	T	10	0.003845334	0.00073	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.020647614293595646	0.02017	.	.	0.22078743577	0.01356	T	0.010783	0.09704	T	-0.783231	0.00010	T	-0.88551	0.00610	T	0.00789288766643281	0.00093	T	0.235876	0.03275	T	0.039515752	0.05469	0.045844138	0.06260	0.039515752	0.05469	0.045844138	0.06260	-0.628	0.00668	T	.	.	0.065	0.01834	B	.;.	.;.	-3.648458	0.00002	0.001	0.18429946470286698	0.00579	0.01614	0.05222	N	AEFDGBCI	0.052167	0.09284	N	-2.74775631786101	0.00004	0.0001804259	-2.77716432186007	0.00005	0.000230338	0.99999999981674	0.74766	0.676563	0.55306	0	0.550933	0.16991	0	0.673471	0.61138	0	0.604944	0.38103	0	.	.	5.2	-10.4	0.00257	-6.493000	0.00079	-20.000000	0.00162	-7.328000	0.00001	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0519:0.3388:0.0931:0.5161	9.558	0.38516	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.016304	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	4623.43	189	chr19	4512102	.	T	C	4623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.666;DP=3137;ExcessHet=0;FS=2.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.031;SOR=0.634	GT:AD:DP:GQ:PL	0/0:290,0:290:99:0,120,1800	9	0	1	0
chr19	4513136	4513136	A	G	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.T824C:p.V275A	.	438	1083	1	0	0	1	0.000461467	.	.	.	2815230	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.069	.	0.0072	0.00559105	0.0007	0.0080	0.0003	0	0	3.025e-05	0	0	0.000705	109	154602	rs375161179	0.0001	0.0001	0.0001	0.0001	0.0040	9.417e-05	8.878e-05	0.0034	0.0032	0.0040	0.0002	0	0	0	0.0005	2.822e-06	0.0003	1.176e-05	0.0004	0.0008	0.0005	0.0004	0.0016	0.0003	0.0003	0.0012	0.0011	0.0016	0	0.0001	0	0	0	0	0	0.0015	0	0.228	0.18434	T	0.684	0.06052	T	0.82	0.45712	P	0.278	0.40236	B	0.754080	0.06501	N	1.166430	1	0.08975	N	1.665	0.42610	L	2.79	0.11189	T	-1.58	0.38151	N	0.104	0.13911	-1.0148	0.25400	T	0.012	0.04416	T	10	0.006348133	0.00143	T	.	.	.	0.069	0.20116	.	.	0.0920862733494	0.08535	0.04972337709942519	0.04915	.	.	0.283740699291	0.08019	T	0.013821	0.11884	T	-0.561135	0.00250	T	-0.727652	0.04434	T	0.0150459888924285	0.00324	T	0.623338	0.24205	T	0.059853837	0.12212	0.053697396	0.09093	0.059853837	0.12212	0.053697396	0.09093	-9.467	0.70654	D	.	.	0.369	0.57763	A	.;.	.;.	1.424040	0.18411	13.72	0.80160125837235374	0.13072	0.03722	0.09012	N	AEFBI	0.079928	0.16152	N	-0.553767843390093	0.20366	1.07306	-0.667787043759565	0.17768	0.9462669	3.2763381772053E-4	0.06540	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	4.31	3.26	0.36471	1.392000	0.34095	2.437000	0.32756	0.568000	0.28809	0.001000	0.13787	0.002000	0.18203	0.012000	0.09680	0.7159:0.0:0.1035:0.1806	4.035	0.09211	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007553	0.005051	0.019022	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2436.43	101	chr19	4513136	.	A	G	2436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.409;DP=1006;ExcessHet=0;FS=8.372;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.12;MQRankSum=0.697;QD=12.89;ReadPosRankSum=1.59;SOR=1.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:88,0:88:99:.:.:0,120,1800:.	9	0	1	0
chr19	4543875	4543875	C	T	exonic	SEMA6B	.	nonsynonymous SNV	SEMA6B:NM_032108:exon17:c.G2393A:p.R798Q	.	.	.	.	.	.	.	.	.	.	.	3602075	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.775707512224	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1045115813	4.74e-06	6.156e-06	3.59e-06	6.026e-06	5.531e-06	1.39e-06	1.01e-06	1.62e-06	1.18e-06	0	0	0	0	0	0	5.531e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.39645	T	0.136	0.27347	B	0.007	0.12992	B	.	.	.	.	0.554746	0.81001	D	1.975	0.53506	M	1.25	0.36512	T	.	.	.	0.078	0.05287	-1.0336	0.19300	T	0.051	0.21728	T	9	0.14718261	0.27892	T	0.775708	0.98230	D	.	.	0.165	0.06955	0.043077524339	0.03247	0.6054171861904176	0.60472	3.36241963825	0.99660	0.921305179596	0.98421	D	0.137741	0.47085	T	-0.213665	0.18866	T	-0.544691	0.17838	T	0.669272257912238	0.39305	D	0.854315	0.54093	D	0.15709089	0.35416	0.11536778	0.27850	0.15709089	0.35415	0.11536778	0.27850	-5.118	0.38096	T	.	.	0.656	0.71172	P	.	.	4.725738	0.76062	26.4	0.99832094386507808	0.91370	0.15332	0.18859	N	AEFDBI	0.113011	0.22315	N	-0.701043828237677	0.15992	0.8109042	-0.628256982109547	0.18769	1.004078	0.990089359331425	0.32033	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	2.96	1.9	0.24770	1.289000	0.32913	5.345000	0.48357	0.437000	0.21030	0.818000	0.29961	1.000000	0.68203	0.977000	0.56843	0.0:0.8443:0.0:0.1557	6.177	0.19662	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	90.75	12	chr19	4543875	.	C	T	90.75	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.836;DP=74;ExcessHet=0;FS=0;InbreedingCoeff=-0.0774;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.92;SOR=1.27	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,148	9	0	1	0
chr19	4898028	4898028	A	G	exonic	ARRDC5	.	nonsynonymous SNV	ARRDC5:NM_001367189:exon2:c.T311C:p.L104P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.45	5	chr19	4898028	.	A	G	34.45	.	AC=2;AF=0.111;AN=18;DP=24;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.23;SOR=0.693	GT:AD:DP:GQ:PL	0/0:3,0:3:9:0,9,82	8	1	0	1
chr19	5594041	5594055	CGCTCCCGCTCCATG	-	exonic	SAFB2	.	nonframeshift deletion	SAFB2:NM_014649:exon15:c.2043_2057del:p.M682_R686del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0	0	0	0.0006	0	0.0003	1.94e-05	3	154602	rs748161277	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0001	9.79e-05	0.0002	0.0002	2.469e-05	0.0004	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	7.215e-05	0	0.0001	0.0003	0	0	0	0.0003	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1079.39	41	chr19	5594040	.	CCGCTCCCGCTCCATG	C	1079.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.014;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.627;SOR=0.836	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,949	9	0	1	0
chr19	5693380	5693380	C	A	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon17:c.G2033T:p.R678L,LONP1:NM_004793:exon17:c.G2621T:p.R874L,LONP1:NM_001276479:exon18:c.G2429T:p.R810L	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0984476041981	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759340786	6.16e-06	6.156e-06	8.172e-06	4.128e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	0	0	0	0	1.894e-05	0.0005	1.799e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.152	0.32249	T	0.048	0.22112	B	0.056	0.26147	B	0.000003	0.62929	N	0.062563	0.997237	0.47497	D	3.12	0.87914	M	1.42	0.33189	T	-5.84	0.89211	D	0.455	0.50688	-0.9927	0.31906	T	0.107	0.38906	T	10	0.82924783	0.82093	D	0.098448	0.76943	D	0.219	0.51417	0.781	0.90541	0.531577502507	0.52806	0.8847310432966006	0.88441	0.461339892586	0.45675	0.509242415428	0.40115	T	0.604794	0.87387	D	-0.0808605	0.39574	T	-0.353927	0.38755	T	0.534226627248298	0.33890	D	0.928457	0.74412	D	0.73439765	0.79973	0.5769376	0.75487	0.73439765	0.79974	0.5769376	0.75488	-9.887	0.77494	D	0.2786247320978517	0.37356	0.360	0.60046	A	.;.;.;.;.;.	.;.;.;.;.;.	4.095247	0.61022	24.3	0.98275998727123259	0.39805	0.97699	0.76499	D	AEFDGBHCI	0.677895	0.64244	D	-0.163033099989352	0.34681	1.982559	-0.150541311784277	0.33389	1.909318	0.999999999999055	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	4.75	3.68	0.41359	4.705000	0.61527	5.154000	0.47766	0.585000	0.30472	0.999000	0.42656	1.000000	0.68203	0.569000	0.30626	0.1869:0.8131:0.0:0.0	11.564	0.50050	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1237.43	41	chr19	5693380	.	C	A	1237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.25;DP=462;ExcessHet=0;FS=2.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.227;SOR=0.628	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1411	9	0	1	0
chr19	5693431	5693431	C	G	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_001276480:exon17:c.G1982C:p.G661A,LONP1:NM_004793:exon17:c.G2570C:p.G857A,LONP1:NM_001276479:exon18:c.G2378C:p.G793A	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.376061892636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	5.12	0.99930	H	0.26	0.59314	T	-5.83	0.89029	D	0.959	0.96871	0.300	0.87562	D	0.568	0.84336	D	10	0.98989666	0.99472	D	0.376062	0.92860	D	0.564	0.82175	0.968	0.99691	0.758281169645	0.75608	0.9572457027693523	0.95709	1.12472233803	0.78418	0.819110751152	0.84892	D	0.754472	0.93298	D	0.199201	0.73817	D	0.0483627	0.73475	D	0.998794555664062	0.95188	D	0.997259	0.98983	D	0.98734725	0.99615	0.9515408	0.98491	0.98734725	0.99615	0.9515408	0.98492	-13.437	0.91083	D	0.9046979468569508	0.95494	0.914	0.85116	P	.;.;.;.;.;.	.;.;.;.;.;.	4.658961	0.74342	26.1	0.99563198679584386	0.71892	0.98658	0.85234	D	AEFDGBHCI	0.909645	0.86654	D	0.728801224455	0.81521	7.541666	0.50740457712726	0.68486	5.226888	0.999999999999317	0.74766	0.675202	0.55065	0	0.672317	0.65289	0	0.67197	0.60751	0	0.711	0.71501	0	.	.	4.75	3.72	0.41857	7.564000	0.81307	7.552000	0.60294	0.585000	0.30472	1.000000	0.71638	1.000000	0.68203	0.157000	0.20547	0.0:0.9027:0.0:0.0973	10.389	0.43344	819	0.41190	Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;.;.;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain;Peptidase S16, Lon proteolytic domain|Peptidase S16, Lon proteolytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1066.43	97	chr19	5693431	.	C	G	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.096;DP=429;ExcessHet=0;FS=9.939;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.475;SOR=0.918	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1411	9	0	1	0
chr19	5719808	5719808	T	C	exonic	LONP1	.	nonsynonymous SNV	LONP1:NM_004793:exon1:c.A325G:p.I109V,LONP1:NM_001276479:exon2:c.A133G:p.I45V	CODAS syndrome, Autosomal recessive	423	1098	1	0	0	1	0.000455166	.	.	.	1323969	Inborn_genetic_diseases|CODAS_syndrome|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010879,MedGen:C1838180,OMIM:600373,Orphanet:1458|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.00674745930397	0.0002	.	6.923e-05	0.0008	0	0	0	0	0	0	5.17e-05	8	154602	rs141593936	3.151e-05	3.147e-05	4.226e-05	2.066e-05	0.0008	2.415e-05	2.16e-05	0.0006	0.0005	0.0008	2.237e-05	0	0	0	0.0002	1.799e-06	0.0002	2.32e-05	0.0001	0.0001	0.0001	0.0001	0.0004	8.167e-05	6.723e-05	0.0003	0.0002	0.0004	0	0.0001	0	0	0	0	0	0	0	1.0	0.00964	T	0.658	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.000202	0.47681	N	0.209720	1	0.81001	D	0.205	0.09354	N	2.32	0.41058	T	0.06	0.06253	N	0.186	0.30461	-1.0084	0.27416	T	0.018	0.07659	T	10	0.035190195	0.01757	T	0.006747	0.17840	T	0.035	0.08770	.	.	0.110392049598	0.10638	0.15961095781042536	0.15882	0.276049919379	0.30084	0.632070183754	0.57438	T	0.108395	0.42140	T	-0.501411	0.00561	T	-0.583375	0.14244	T	0.00494339379154037	0.00053	T	0.717928	0.34274	T	0.020991785	0.00680	0.024274334	0.00444	0.020991785	0.00680	0.024274334	0.00444	-2.212	0.04098	T	.	.	0.093	0.39949	B	.;.;.	.;.;.	2.062254	0.26218	17.04	0.80160262214641909	0.13072	0.70233	0.34506	D	AEFDBHCI	0.307894	0.41464	N	-0.44271295239507	0.23987	1.292089	-0.259387456146259	0.29449	1.649996	0.999999972463417	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.57	3.55	0.39770	3.150000	0.50359	0.559000	0.19493	0.651000	0.53179	1.000000	0.71638	0.790000	0.26855	0.501000	0.29039	0.0:0.2215:0.0:0.7785	5.489	0.16057	867	0.32089	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1160.43	34	chr19	5719808	.	T	C	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.752;DP=395;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.59;SOR=0.65	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1180	9	0	1	0
chr19	5719945	5719947	CCC	-	exonic	LONP1	.	nonframeshift deletion	LONP1:NM_004793:exon1:c.186_188del:p.G63del	CODAS syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.926e-05	0	0.0015	0	0	0	0	0	6.5e-06	1	154602	rs751406962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1167.39	34	chr19	5719944	.	GCCC	G	1167.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.216;DP=342;ExcessHet=0;FS=3.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.48;ReadPosRankSum=-0.368;SOR=0.289	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,920	9	0	1	0
chr19	5893087	5893087	A	T	exonic	NDUFA11	.	nonsynonymous SNV	NDUFA11:NM_001193375:exon4:c.T517A:p.C173S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	0	1521	1	0	0	1	0.000328623	.	.	.	1306554	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.124	0.00101429060957	.	0.000798722	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs563761118	8.383e-05	7.935e-05	7.989e-05	8.787e-05	0.0016	7.113e-05	6.62e-05	0.0012	0.0011	0.0016	0.0007	0	0	0	0.0002	1.668e-05	0.0003	1.262e-05	0.0005	0.0005	0.0006	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0007	0	0	0	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.368	0.16570	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.53	0.02808	N	0.162	0.17002	-1.0458	0.15592	T	0.035	0.15291	T	8	0.008442968	0.00191	T	0.001014	0.01096	T	0.124	0.34239	0.288	0.24761	0.043077524339	0.03247	0.04455966607775297	0.04399	0.247142046853	0.27250	0.295294761658	0.09701	T	.	.	.	-0.650238	0.00072	T	-0.720029	0.04794	T	0.00857984934102058	0.00105	T	0.217178	0.02724	T	.	.	.	.	.	.	.	.	-2.267	0.04378	T	.	.	0.148	0.32589	B	.	.	0.157884	0.05491	1.955	0.48001654758283091	0.03970	0.00859	0.03418	N	AEFBCI	0.053762	0.09715	N	-1.63976978240089	0.01079	0.04682274	-1.748097748773	0.00940	0.0420967	0.992371969443156	0.32817	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	0.788	-1.58	0.08029	-0.711000	0.05121	-0.524000	0.08673	-1.017000	0.01747	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2401:0.3158:0.2259:0.2182	0.343	0.00314	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001250	0.010638	0.007143	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1419.43	42	chr19	5893087	.	A	T	1419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=476;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=-0.383;SOR=0.619	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr19	5908837	5908837	C	T	exonic	VMAC	.	nonsynonymous SNV	VMAC:NM_001017921:exon2:c.C205T:p.L69F	.	.	.	.	.	.	.	.	.	.	.	2341857	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.178	0.0289067094189	.	.	1.656e-05	0	0	0	0.0003	0	0	0	1.29e-05	2	154602	rs753648226	0.0001	0.0001	0.0001	9.627e-05	0.0003	9.807e-05	9.223e-05	0.0001	0.0001	2.988e-05	0	0	0	0.0001	0.0003	0.0001	8.281e-05	1.159e-05	5.917e-05	5.91e-05	6.426e-05	5.384e-05	7.351e-05	3.079e-05	2.211e-05	2.847e-05	1.858e-05	4.829e-05	0	0	0	0	0.0002	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000016	0.62929	D	0.000000	0.999671	0.48205	D	2.24	0.63355	M	.	.	.	-3.14	0.64019	D	0.464	0.50056	-0.1983	0.77714	T	0.393	0.74634	T	9	0.27951092	0.45524	T	0.028907	0.51509	D	0.178	0.44724	.	.	0.0401082797425	0.02173	0.4859143662543775	0.48511	1.37465409467	0.84631	0.569711744785	0.48637	T	0.137542	0.47054	T	-0.0307273	0.47311	T	-0.174257	0.57053	T	0.919108331203461	0.57766	D	0.708829	0.31953	T	0.5873185	0.72006	0.5316848	0.72939	0.5873185	0.72007	0.5316848	0.72940	-7.508	0.57667	D	.	.	0.439	0.61649	A	.	.	4.929482	0.81258	27.5	0.99856393403738708	0.93548	0.75487	0.36962	D	AEFDBHCIJ	0.143872	0.26669	N	0.373911947704189	0.60012	4.185746	0.238480443137259	0.51996	3.377652	0.999999999961395	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	3.95	3.95	0.44952	3.275000	0.51342	7.602000	0.61596	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	11.874	0.51818	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1502.43	137	chr19	5908837	.	C	T	1502.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.49;DP=455;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.977;SOR=0.763	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1297	9	0	1	0
chr19	5994944	5994944	A	G	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_134433:exon17:c.T1988C:p.M663T,RFX2:NM_000635:exon18:c.T2063C:p.M688T	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0276815546243	.	0.000199681	4.264e-05	0	0	0	0.0002	4.668e-05	0	6.167e-05	3.88e-05	6	154602	rs546787693	4.609e-05	4.583e-05	3.835e-05	5.39e-05	0.0002	3.682e-05	3.366e-05	3.893e-05	3.493e-05	0	6.711e-05	0	0	4.32e-05	0.0002	4.949e-05	8.291e-05	1.16e-05	5.913e-05	5.907e-05	3.857e-05	8.062e-05	0.0002	3.077e-05	2.21e-05	5.282e-05	2.834e-05	2.407e-05	0	0.0002	0	0	9.427e-05	0	4.412e-05	0	0.0002	0.402	0.10412	T	0.569	0.08870	T	0.0	0.02946	B	0.0	0.01387	B	0.008195	0.30970	N	0.379586	0.993544	0.23692	N	0.205	0.09354	N	0.06	0.61923	T	0.19	0.04947	N	0.071	0.12484	-1.0503	0.14313	T	0.104	0.38193	T	10	0.056996018	0.06477	T	0.027682	0.50460	D	0.334	0.65620	0.204	0.11936	0.65606726329	0.65319	0.20949863712203226	0.20865	0.923174689541	0.71542	0.395254135132	0.24407	T	0.00986	0.08945	T	-0.168496	0.25463	T	-0.282838	0.46512	T	0.0643163546919823	0.07829	T	0.480552	0.14510	T	0.11825163	0.27864	0.09367339	0.22137	0.11825163	0.27864	0.09367339	0.22137	-2.843	0.10116	T	.	.	0.064	0.01715	B	.;.;.	.;.;.	1.115757	0.15011	11.52	0.42159892171998181	0.03089	0.94848	0.62539	D	AEFDBI	0.471184	0.51683	N	-0.605334368647334	0.18783	0.9779524	-0.482407372334839	0.22639	1.230608	0.999999998957028	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.662433	0.64102	0	.	.	4.87	4.87	0.62877	5.037000	0.63964	4.485000	0.43549	0.756000	0.94297	0.990000	0.36992	0.290000	0.24159	0.002000	0.04165	1.0:0.0:0.0:0.0	11.889	0.51900	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.05	460.43	53	chr19	5994944	.	A	G	460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.893;DP=366;ExcessHet=0;FS=3.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=0.164;SOR=1.23	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr19	6010199	6010199	C	T	exonic	RFX2	.	nonsynonymous SNV	RFX2:NM_134433:exon8:c.G877A:p.G293S,RFX2:NM_000635:exon9:c.G952A:p.G318S	.	422	1099	1	0	0	1	0.000454752	.	.	.	3312728	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.221	0.0119354853871	0.0004	.	0.0003	0.0019	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs144879552	5.729e-05	5.814e-05	7.49e-05	3.92e-05	0.0017	4.687e-05	4.342e-05	0.0014	0.0012	0.0017	2.801e-05	7.943e-05	0	0	0	9.268e-06	0.0002	1.263e-05	0.0004	0.0004	0.0005	0.0003	0.0014	0.0003	0.0003	0.0012	0.0010	0.0014	0	0.0001	0	0	0	0	0	0	0	0.462	0.08685	T	0.544	0.12562	T	0.0	0.02946	B	0.001	0.04355	B	0.046674	0.23417	N	0.537533	0.999969	0.18878	N	-1.03	0.01126	N	-0.01	0.81900	T	0.34	0.03824	N	0.076	0.12055	-1.0150	0.25336	T	0.064	0.26385	T	10	0.00796327	0.00181	T	0.011935	0.30037	T	0.221	0.51721	.	.	0.359705090764	0.35578	0.16441498318295042	0.16361	0.800589739096	0.66227	0.317093849182	0.12980	T	0.009161	0.11008	T	-0.357342	0.04282	T	-0.305088	0.44185	T	0.00407829643301156	0.00043	T	0.756924	0.40417	T	0.023906138	0.01171	0.04029353	0.04322	0.023906138	0.01170	0.04029353	0.04322	-5.463	0.41521	T	.	.	0.052	0.00341	B	.;.;.;.;.	.;.;.;.;.	0.404707	0.07760	4.442	0.70347752552470744	0.09266	0.14212	0.18283	N	AEFDBI	0.077005	0.15505	N	-1.33498323872629	0.03283	0.1463923	-1.11230053714194	0.07464	0.3631874	0.90182914900868	0.26111	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.37	2.14	0.26518	1.004000	0.29423	-0.031000	0.12795	-1.853000	0.00569	1.000000	0.71638	0.310000	0.24267	0.030000	0.13115	0.0:0.2196:0.0:0.7804	8.848	0.34340	916	0.20744	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1625.43	40	chr19	6010199	.	C	T	1625.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.766;DP=426;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=-0.332;SOR=0.703	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr19	6183124	6183124	C	G	exonic	ACSBG2	.	nonsynonymous SNV	ACSBG2:NM_001289177:exon10:c.C1174G:p.H392D,ACSBG2:NM_001289178:exon10:c.C1174G:p.H392D,ACSBG2:NM_001289179:exon10:c.C1174G:p.H392D,ACSBG2:NM_001289180:exon10:c.C613G:p.H205D,ACSBG2:NM_001321384:exon10:c.C1024G:p.H342D,ACSBG2:NM_030924:exon10:c.C1174G:p.H392D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00968171512336	0.0026	0.000798722	0.0013	0.0005	0.0003	0	0.0002	0.0017	0.0033	0.0019	0.0014553	225	154602	rs147652076	0.0028	0.0028	0.0029	0.0028	0.0034	0.0027	0.0027	0.0033	0.0033	0.0004	0.0004	0.0002	0	0.0001	0.0003	0.0034	0.0015	0.0019	0.0014	0.0014	0.0014	0.0014	0.0029	0.0013	0.0012	0.0021	0.0020	0.0004	0	0.0008	0	0.0002	0.0003	0	0.0024	0.0019	0.0029	.	.	.	0.288	0.21144	T	0.244	0.31025	B	0.216	0.37572	B	0.577490	0.11176	N	0.758456	1	0.08975	N	1.875	0.49914	L	1.06	0.39781	T	.	.	.	0.312	0.35194	-0.9911	0.32321	T	0.082	0.32148	T	10	0.008499205	0.00193	T	0.009682	0.25290	T	.	.	.	.	0.353336612579	0.34937	0.7060770996703132	0.70549	0.156178610109	0.17630	0.244652628899	0.03226	T	0.017225	0.14089	T	-0.491899	0.00634	T	-0.478951	0.24558	T	0.00471728563711094	0.00050	T	0.523548	0.19007	T	0.29162294	0.52143	0.25518137	0.51196	0.29162294	0.52143	0.25518137	0.51195	-6.116	0.47240	T	.	.	0.190	0.41663	B	.;.;.;.	.;.;.;.	0.977926	0.13551	10.08	0.89263132295779946	0.18648	0.09210	0.15012	N	AEFDBI	0.190515	0.31775	N	-0.724093006570382	0.15346	0.7725653	-0.783480245484795	0.14899	0.7809481	1.52068153037033E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.315538	0.05692	2	0.530356	0.10902	0	.	.	5.16	1.38	0.21262	0.324000	0.19357	-0.133000	0.11598	0.599000	0.40250	0.018000	0.19461	0.000000	0.08366	0.021000	0.11733	0.1971:0.5146:0.1218:0.1664	2.777	0.05022	923	0.18507	.;.;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1907.43	35	chr19	6183124	.	C	G	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.195;DP=615;ExcessHet=0;FS=1.143;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=-0.175;SOR=0.586	GT:AD:DP:GQ:PL	0/1:101,85:186:99:1919,0,2356	9	0	1	0
chr19	6361708	6361708	A	C	exonic	CLPP	.	nonsynonymous SNV	CLPP:NM_006012:exon1:c.A134C:p.Q45P	Perrault syndrome 3, Autosomal recessive	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0139409055014	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1003287000	1.109e-05	1.094e-05	4.356e-06	1.808e-05	0.0002	6.66e-06	5.28e-06	2.575e-05	1.634e-05	0	0	0	0	0	0.0002	4.709e-06	7.098e-05	6.761e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.034	0.52727	D	0.453	0.36131	P	0.127	0.32738	B	0.033273	0.24919	N	0.402653	0.997661	0.22562	N	0.46	0.12951	N	.	.	.	0.16	0.05217	N	0.187	0.20395	-1.0597	0.11830	T	0.026	0.11176	T	9	0.10147992	0.18544	T	0.013941	0.33715	T	0.084	0.24469	0.449	0.50957	0.261638197198	0.25763	0.5988824998327508	0.59819	0.918722139017	0.71365	0.595567584038	0.52279	T	0.138479	0.47199	T	-0.0937202	0.37462	T	-0.372399	0.36609	T	0.247177168726921	0.22747	T	0.471053	0.13966	T	0.13161634	0.30673	0.16564664	0.38310	0.13161634	0.30673	0.16564664	0.38309	-3.179	0.12226	T	.	.	0.056	0.00452	B	.	.	0.971792	0.13488	10.00	0.87898376866580563	0.17564	0.08177	0.14139	N	ALL	0.178809	0.30608	N	-0.840000287526107	0.12296	0.5985209	-0.850215119958	0.13283	0.688179	0.999999999997655	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.45	0.919	0.18518	-0.350000	0.07769	0.469000	0.18693	-0.330000	0.05784	0.014000	0.18986	0.084000	0.22431	0.005000	0.06747	0.503:0.1684:0.1617:0.1669	1.007	0.01395	793	0.45818	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002116	0.000000	0.000000	0.009091	0.000000	0.000000	0.006536	0.000000	0.05	904.43	33	chr19	6361708	.	A	C	904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.152;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.28;ReadPosRankSum=-1.812;SOR=0.651	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,120,1800	9	0	1	0
chr19	6375494	6375494	G	A	exonic	PSPN	.	nonsynonymous SNV	PSPN:NM_004158:exon2:c.C271T:p.R91C	.	418	1084	18	2	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.423871069852	0.0006	0.000399361	0.0024	0	0.0058	0	0	0.0047	0.0058	0.0010	0.0006856	106	154602	rs199881560	0.0010	0.0010	0.0010	0.0011	0.0141	0.0010	0.0009	0.0116	0.0107	0.0010	0.0013	0.0020	0	0.0003	0.0141	0.0009	0.0018	0.0017	0.0009	0.0009	0.0008	0.0011	0.0031	0.0008	0.0008	0.0024	0.0022	0.0005	0	0.0031	0.0026	0	9.414e-05	0.0137	0.0008	0.0024	0.0004	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.765	0.56630	P	0.005456	0.32788	N	0.206931	0.999861	0.50061	D	2.815	0.81989	M	-1.88	0.84487	D	-6.72	0.92561	D	0.457	0.49420	0.347	0.88284	D	0.640	0.87419	D	10	0.051564932	0.05056	T	0.423871	0.93847	D	0.754	0.91583	.	.	0.869336624702	0.86806	0.6008403966575716	0.60015	1.28444644439	0.82614	0.542785406113	0.44839	T	0.931102	0.98836	D	0.161253	0.70316	D	0.445622	0.93469	D	0.0494534286816615	0.05403	T	0.968203	0.88468	D	0.5794814	0.71580	0.33474544	0.59296	0.5794814	0.71581	0.33474544	0.59295	-13.146	0.89955	D	.	.	0.306	0.53425	B	.	.	5.032840	0.83719	28.1	0.99917466821320478	0.98518	0.76001	0.37243	D	AEFDBCI	0.663711	0.63313	D	0.510018647440075	0.67679	5.114119	0.46060518330418	0.65400	4.819082	0.999590146156428	0.40745	0.679555	0.55442	0	0.550933	0.16991	0	0.645312	0.48771	0	0.602482	0.37289	1	.	.	4.21	4.21	0.48984	3.446000	0.52692	5.032000	0.46835	0.511000	0.23309	1.000000	0.71638	1.000000	0.68203	0.906000	0.44173	0.0:0.0:0.6769:0.3231	9.764	0.39713	748	0.52143	Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal|Transforming growth factor-beta, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010769	0.010989	0.012465	0.017647	0.000000	0.000000	0.003145	0.007576	0.05	740.43	35	chr19	6375494	.	G	A	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.414;DP=407;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.503;SOR=0.834	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1137	9	0	1	0
chr19	6387534	6387534	C	T	exonic	GTF2F1	.	nonsynonymous SNV	GTF2F1:NM_002096:exon5:c.G352A:p.V118I	.	392	1129	1	0	0	1	0.000442674	.	.	.	2353394	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.097	0.012296018018	0.0004	.	9.924e-05	0.0010	0	0	0	3.009e-05	0	0	7.76e-05	12	154602	rs141810642	2.6e-05	2.599e-05	3.267e-05	1.925e-05	0.0004	1.932e-05	1.692e-05	0.0003	0.0002	0.0004	2.236e-05	0	5.038e-05	0	0	6.295e-06	0.0002	2.319e-05	0.0002	0.0002	0.0003	0.0001	0.0007	0.0002	0.0001	0.0005	0.0004	0.0007	0	0.0002	0	0	0	0	0	0	0	0.273	0.15876	T	0.863	0.18846	T	0.014	0.16867	B	0.032	0.22131	B	0.000006	0.62929	D	0.062581	0.999999	0.81001	D	1.725	0.44537	L	0.79	0.49068	T	-0.44	0.14588	N	0.723	0.72477	-1.0669	0.10108	T	0.089	0.34271	T	10	0.07309526	0.10999	T	0.012296	0.30749	T	0.097	0.27909	.	.	0.536240654335	0.53275	0.38996809884782435	0.38911	0.278449452073	0.30327	0.546894550323	0.45419	T	0.093098	0.39141	T	-0.342174	0.05238	T	-0.333108	0.41123	T	0.0845597453266989	0.10560	T	0.909109	0.72722	D	0.17477754	0.38300	0.14067537	0.33524	0.17477754	0.38300	0.14067537	0.33524	-5.469	0.41578	T	.	.	0.099	0.30608	B	.;.;.	.;.;.	2.204875	0.28123	17.69	0.99307926160598337	0.58869	0.91771	0.54228	D	AEFDBCI	0.699106	0.65656	D	-0.140730689553509	0.35630	2.049036	0.0485047652101648	0.41999	2.532814	0.999933881785268	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	4.36	0.51643	7.501000	0.80435	5.883000	0.50667	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.921:0.0:0.079	13.135	0.58823	766	0.49742	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1539.43	35	chr19	6387534	.	C	T	1539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.256;DP=448;ExcessHet=0;FS=1.36;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.16;SOR=0.636	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	9	0	1	0
chr19	6427473	6427473	C	T	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon5:c.G653A:p.R218Q,SLC25A41:NM_001321298:exon6:c.G239A:p.R80Q	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0320289930778	7.7e-05	0.00119808	0.0010	0	0.0024	0	0	0.0008	0.0047	0.0022	0.0005433	84	154602	rs370967882	0.0004	0.0004	0.0003	0.0005	0.0084	0.0004	0.0004	0.0065	0.0058	0.0002	0.0006	0.0027	0.0001	0	0.0084	0.0003	0.0008	0.0010	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	9.621e-05	0	0.0009	0.0020	0	0	0	0.0003	0.0014	0.0017	0.065	0.36310	T	0.01	0.65728	D	0.581	0.38837	P	0.094	0.30180	B	.	.	.	.	1	0.81001	D	0.61	0.15665	N	-1.16	0.78082	T	-1.84	0.43149	N	0.121	0.11197	-0.8827	0.49545	T	0.208	0.56771	T	9	0.0052732825	0.00115	T	0.032029	0.53962	D	0.154	0.40340	.	.	0.329282125956	0.32538	0.21025020509890177	0.20941	0.0426198176388	0.04596	0.257188558578	0.04561	T	0.055096	0.29909	T	-0.433726	0.01408	T	-0.446235	0.28112	T	0.0350473004095516	0.02815	T	0.889011	0.61998	D	0.079493165	0.18164	0.074608445	0.16339	0.079493165	0.18163	0.074608445	0.16339	-4.404	0.29612	T	.	.	0.075	0.05317	B	.	.	1.307874	0.17108	12.96	0.99471717513587254	0.66365	0.05453	0.11331	N	AEFBI	0.115421	0.22695	N	-0.659157792231801	0.17193	0.8826803	-0.730294490387425	0.16208	0.8563167	0.0271245656806612	0.13754	0.615465	0.37627	0	0.633656	0.55848	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.07	1.82	0.24209	1.316000	0.33226	-0.740000	0.07623	0.599000	0.40250	0.157000	0.23755	0.000000	0.08366	0.046000	0.14843	0.1761:0.6309:0.0:0.1931	4.945	0.13336	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011156	0.000000	0.016304	0.014706	0.000000	0.017241	0.003106	0.003788	0.05	1861.43	160	chr19	6427473	.	C	T	1861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.43;DP=498;ExcessHet=0;FS=5.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.249;SOR=0.894	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr19	6433680	6433680	G	C	exonic	SLC25A41	.	nonsynonymous SNV	SLC25A41:NM_173637:exon1:c.C14G:p.P5R	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0313249890407	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs754641726	8.144e-05	8.209e-05	6.979e-05	9.344e-05	9.784e-05	6.901e-05	6.419e-05	8.248e-05	7.688e-05	3.095e-05	2.502e-05	0	0	0	0	9.784e-05	0.0001	0	3.946e-05	3.941e-05	3.856e-05	4.039e-05	7.351e-05	1.717e-05	1.13e-05	2.847e-05	1.858e-05	0	0	6.559e-05	0	0	0	0	7.351e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.047	0.21998	B	0.027	0.21085	B	0.152526	0.17920	U	0.502519	1	0.08975	N	0.805	0.20218	L	-1.71	0.83157	D	-0.09	0.08340	N	0.401	0.44187	-0.7964	0.55356	T	0.277	0.64885	T	10	0.10124686	0.18488	T	0.031325	0.53437	D	0.078	0.22779	.	.	0.165133752707	0.16062	0.08792468114477948	0.08725	0.0440490187585	0.04745	0.371021687984	0.20979	T	0.006698	0.06126	T	-0.112965	0.34281	T	-0.277498	0.47059	T	0.0950702735553747	0.11806	T	0.390761	0.09705	T	0.06807105	0.14799	0.12817834	0.30841	0.06807105	0.14799	0.12817834	0.30841	-4.176	0.26403	T	.	.	0.078	0.06849	B	.	.	1.148179	0.15359	11.79	0.94042062167607599	0.24164	0.04530	0.10162	N	AEFI	0.052149	0.09281	N	-1.02975331633391	0.07991	0.3731156	-1.11129256652991	0.07484	0.3641899	1.17142957300295E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	3.09	-0.753	0.10510	1.140000	0.31128	1.170000	0.24618	0.613000	0.49114	0.006000	0.17386	0.001000	0.17328	0.002000	0.04165	0.1459:0.0:0.4007:0.4533	3.225	0.06331	818	0.41518	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1256.43	35	chr19	6433680	.	G	C	1256.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.927;DP=424;ExcessHet=0;FS=0.746;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.737;SOR=0.605	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1187	9	0	1	0
chr19	6534749	6534749	C	T	exonic	TNFSF9	.	nonsynonymous SNV	TNFSF9:NM_003811:exon3:c.C448T:p.R150W	.	414	1081	27	0	0	27	0.0123344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.156715041905	0.0002	0.000599042	0.0016	0.0002	0.0013	0.0009	0	0.0007	0.0077	0.0048	0.000608	94	154602	rs77313944	0.0005	0.0005	0.0003	0.0007	0.0043	0.0005	0.0005	0.0040	0.0038	6.029e-05	7.121e-05	0.0029	0.0006	0	0.0040	0.0001	0.0011	0.0043	0.0004	0.0004	0.0003	0.0004	0.0052	0.0003	0.0003	0.0036	0.0031	0.0001	0	6.541e-05	0.0026	0.0012	0	0	0.0002	0	0.0052	0.012	0.54683	D	0.006	0.70582	D	0.967	0.56408	D	0.257	0.39298	B	0.407458	0.04571	U	1.486760	1	0.08975	N	0.345	0.11182	N	-3.73	0.95458	D	-3.58	0.69118	D	0.133	0.12913	-0.0060	0.82132	T	0.638	0.87344	D	10	0.014418662	0.00303	T	0.156715	0.83744	D	0.256	0.56694	.	.	0.814758757958	0.81302	0.4046565733981127	0.40381	0.104834384068	0.11861	0.353660434484	0.18459	T	0.65478	0.89567	D	-0.31116	0.07648	T	-0.22121	0.52620	T	0.0678301304311287	0.08344	T	0.359864	0.08266	T	0.42899168	0.62686	0.21123959	0.45544	0.42899168	0.62687	0.21123959	0.45543	-7.576	0.58143	D	.	.	0.182	0.39477	B	.	.	1.624958	0.20752	14.89	0.99018241354323389	0.50527	0.06716	0.12738	N	AEFDBHCI	0.055189	0.10098	N	-0.640434869499832	0.17739	0.915376	-0.74969168509557	0.15730	0.8287335	0.999977776660373	0.50053	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.655142	0.61905	0	.	.	4.13	1.5	0.22029	-0.875000	0.04314	0.184000	0.15665	0.526000	0.24426	0.000000	0.06391	0.005000	0.19230	0.010000	0.09038	0.5435:0.4565:0.0:0.0	8.476	0.32173	964	0.07719	Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain|Tumour necrosis factor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004061	0.000000	0.002740	0.002941	0.000000	0.000000	0.000000	0.018939	0.05	1198.43	39	chr19	6534749	.	C	T	1198.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=415;ExcessHet=0;FS=1.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.55;SOR=0.49	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1202	9	0	1	0
chr19	6684412	6684412	G	T	exonic	C3	.	nonsynonymous SNV	C3:NM_000064:exon33:c.C4148A:p.T1383N	C3 deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	622120	Age_related_macular_degeneration_9|Atypical_hemolytic-uremic_syndrome_with_C3_anomaly|Complement_component_3_deficiency|not_provided	MONDO:MONDO:0012659,MedGen:C1969651,OMIM:611378|MONDO:MONDO:0013043,MedGen:C2752037,OMIM:612925,Orphanet:2134|MONDO:MONDO:0013417,MedGen:C3151071,OMIM:613779,Orphanet:280133|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.090	0.0355977832293	7.7e-05	.	9.06e-05	0	0	0	0.0002	0.0001	0	0.0002	7.12e-05	11	154602	rs139100972	0.0001	0.0001	0.0001	0.0001	0.0003	9.334e-05	8.818e-05	0.0002	0.0002	2.987e-05	0.0003	0	0	1.872e-05	0	0.0001	9.935e-05	0.0002	0.0001	0.0001	0.0001	0.0001	0.0005	6.51e-05	5.322e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0001	0	0	0.036	0.43393	D	0.306	0.40110	T	0.267	0.31683	B	0.328	0.42011	B	0.745233	0.09744	N	0.889824	1	0.08975	N	2.72	0.79541	M	1.51	0.30937	T	-1.62	0.38924	N	0.768	0.76573	-0.9295	0.44212	T	0.114	0.40627	T	10	0.07993618	0.12917	T	0.035598	0.56449	D	0.090	0.26093	.	.	0.383278103999	0.37944	0.654829751042006	0.65418	0.893539204681	0.70324	0.365060985088	0.20120	T	0.111076	0.42628	T	-0.476637	0.00774	T	-0.594472	0.13281	T	0.0744952192898771	0.09267	T	0.723828	0.33737	T	0.11335231	0.26772	0.10496659	0.25223	0.122153655	0.28711	0.12852927	0.30920	-7.124	0.54933	T	0.5881665006178586	0.65495	0.393	0.61623	A	.;.	.;.	1.429961	0.18479	13.76	0.92197123050211582	0.21566	0.15785	0.19080	N	AEFDBCI	0.437231	0.49712	N	-0.795294492064554	0.13432	0.6616512	-0.89075522230061	0.12312	0.632604	0.984899966926433	0.30793	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.05	1.59	0.22622	0.423000	0.21032	1.723000	0.28273	-1.075000	0.01584	0.001000	0.13787	0.006000	0.19429	0.471000	0.28363	0.0:0.4702:0.5298:0.0	13.211	0.59251	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1170.43	33	chr19	6684412	.	G	T	1170.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.83;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.17;SOR=0.632	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1044	9	0	1	0
chr19	6735933	6735933	C	T	exonic	GPR108	.	nonsynonymous SNV	GPR108:NM_001080452:exon3:c.G266A:p.R89Q	.	429	1092	1	0	0	1	0.000457666	.	.	.	2393119	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00935523476456	8.3e-05	0.000199681	0.0002	0	0.0001	0.0008	0	0.0002	0	0	0.0001229	19	154602	rs375471822	9.936e-05	9.987e-05	9.133e-05	0.0001	0.0013	8.593e-05	8.062e-05	0.0010	0.0009	5.987e-05	4.498e-05	3.842e-05	0.0013	0	0.0009	6.483e-05	0.0002	1.166e-05	7.887e-05	7.875e-05	6.428e-05	9.413e-05	0.0004	4.498e-05	3.513e-05	6.85e-05	5.09e-05	2.409e-05	0	0	0	0.0004	0	0	0.0001	0	0	0.231	0.18246	T	0.467	0.12351	T	0.222	0.30359	B	0.016	0.17743	B	0.001651	0.38382	N	0.105080	1	0.81001	D	1.78	0.46185	L	1.91	0.23283	T	-1.22	0.30964	N	0.151	0.15469	-1.0505	0.14258	T	0.035	0.15117	T	10	0.01843226	0.00401	T	0.009355	0.24530	T	0.018	0.03083	.	.	0.222439326576	0.21863	0.3481148404021109	0.34725	0.265635106217	0.29118	0.372787535191	0.21231	T	0.009837	0.08928	T	-0.472065	0.00825	T	-0.545951	0.17716	T	0.0281888831496896	0.01716	T	0.738826	0.35731	T	0.05898652	0.11934	0.04925073	0.07486	0.05898652	0.11933	0.04925073	0.07485	-6.732	0.52051	T	.	.	0.075	0.05668	B	.	.	1.499537	0.19277	14.18	0.99414742445323134	0.63453	0.15964	0.19166	N	AEFDGBHCI	0.104361	0.20883	N	-0.7228713108931	0.15380	0.7745733	-0.71050897053774	0.16699	0.8846313	0.999982225318609	0.51787	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	4.23	-0.477	0.11493	0.453000	0.21523	-0.322000	0.09956	0.549000	0.26987	0.013000	0.18845	0.000000	0.08366	0.881000	0.42162	0.0:0.5414:0.0:0.4586	6.315	0.20391	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001009	0.000000	0.000000	0.005917	0.000000	0.000000	0.000000	0.000000	0.05	421.43	34	chr19	6735933	.	C	T	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.901;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.643;SOR=0.631	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1223	9	0	1	0
chr19	6755168	6755168	C	T	exonic	SH2D3A	.	nonsynonymous SNV	SH2D3A:NM_005490:exon5:c.G644A:p.R215Q	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0130555189363	0.0006	0.000199681	0.0006	0	0.0003	0.0001	0	0.0009	0.0023	0.0006	0.0004657	72	154602	rs139813452	0.0006	0.0006	0.0006	0.0007	0.0058	0.0006	0.0006	0.0042	0.0037	0.0003	0.0002	0.0117	0	0	0.0058	0.0004	0.0015	0.0008	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0001	7.235e-05	0	0.0003	0.0075	0	0	0	0.0003	0.0005	0.0004	0.151	0.24564	T	0.0	0.92824	D	1.0	0.90584	D	0.95	0.68788	D	0.003790	0.34487	N	0.000000	0.622903	0.33738	D	2.515	0.73286	M	1.32	0.35219	T	-1.17	0.32387	N	0.238	0.29081	-0.5966	0.64955	T	0.200	0.55625	T	10	0.007838309	0.00178	T	0.013056	0.32163	T	0.114	0.32008	.	.	0.697679765967	0.69506	0.4191840507844904	0.41834	0.948468269422	0.72514	0.386554598808	0.23182	T	0.081848	0.36692	T	-0.307122	0.08005	T	-0.319252	0.42656	T	0.554415106773376	0.34643	D	0.829317	0.49436	T	0.104006454	0.24584	0.064677715	0.12999	0.104006454	0.24584	0.064677715	0.12998	-9.529	0.71039	D	.	.	0.102	0.17785	B	.;.	.;.	3.860392	0.55978	23.7	0.99897786711129255	0.97048	0.97645	0.76123	D	AEFDBHI	0.584879	0.58353	D	0.460673285849471	0.64810	4.744259	0.388358732190324	0.60845	4.276993	0.999999999322786	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	3.683000	0.54396	1.666000	0.27927	0.524000	0.24156	1.000000	0.71638	0.998000	0.33993	0.432000	0.27494	0.0:1.0:0.0:0.0	14.758	0.69208	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.05	1546.43	127	chr19	6755168	.	C	T	1546.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=478;ExcessHet=0;FS=6.725;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.512;SOR=1.109	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	7019175	7019175	G	A	exonic	MBD3L2B	.	nonsynonymous SNV	MBD3L2B:NM_001364674:exon2:c.C601T:p.R201W	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	0.000399361	0.0005	0	0	0	0	0	0	0.0013	0.0001164	18	154602	rs373185857	0.0002	0.0002	0.0001	0.0002	0.0012	0.0002	0.0001	0.0009	0.0009	0	0	0	0	0	0.0005	5.987e-05	0.0003	0.0012	0.0001	0.0001	7.717e-05	0.0001	0.0027	7.093e-05	5.749e-05	0.0016	0.0013	0	0	0	0	0.0002	0	0	4.413e-05	0	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	0.291589	0.14759	N	0.500961	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9765	0.35794	T	0.094	0.35684	T	6	0.012144089	0.00262	T	.	.	.	.	.	.	.	.	.	0.40558127082025486	0.40474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344566	0.07542	T	0.12333005	0.28961	0.13203688	0.31693	0.12333005	0.28961	0.13203688	0.31692	-5.692	0.43623	T	.	.	0.193	0.41541	B	.;.	.;.	1.880415	0.23884	16.19	0.8822533936491902	0.17812	0.00198	0.01140	N	AEFBI	.	.	.	-0.942452097261537	0.09863	0.4686974	-1.17092006574531	0.06400	0.3079479	1.877769576949E-6	0.01202	0.070013	0.01499	0	0.082579	0.02020	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0473252	0.06615	2.08	-2.01	0.07003	-0.298000	0.08302	0.424000	0.18252	-1.302000	0.01243	0.019000	0.19563	0.000000	0.08366	0.001000	0.02609	0.2047:0.3773:0.4181:0.0	5.022	0.13707	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	343.43	27	chr19	7019175	.	G	A	343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.916;DP=207;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.95;MQRankSum=-0.075;QD=15.61;ReadPosRankSum=-0.703;SOR=0.446	GT:AD:DP:GQ:PL	0/0:20,0:20:57:0,57,855	9	0	1	0
chr19	7056494	7056494	C	T	exonic	MBD3L3	.	nonsynonymous SNV	MBD3L3:NM_001164425:exon2:c.G455A:p.G152E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000539388683999	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343504458	3.276e-06	6.361e-06	7.178e-06	0	4.863e-05	5.5e-07	2e-07	8.06e-06	3.01e-06	0	4.863e-05	0	0	0	0	0	0	0	6.578e-06	6.567e-06	1.286e-05	0	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.215	0.03996	N	.	.	.	2.18	0.00332	N	0.137	0.13484	-0.9919	0.32115	T	0.031	0.13504	T	5	0.05543104	0.06057	T	5.39E-4	0.00196	T	0.042	0.11227	0.201	0.11522	0.0401082797425	0.02173	0.08539423979111213	0.08473	2.35881551398	0.96850	0.514297127724	0.40824	T	0.004363	0.03768	T	-0.316575	0.07183	T	-0.692514	0.06245	T	0.0598464784453847	0.07144	T	0.50435	0.15896	T	0.0658236	0.14106	0.10573925	0.25424	0.0658236	0.14106	0.10573925	0.25424	-3.882	0.22032	T	.	.	0.094	0.14431	B	.	.	-0.055069	0.03916	0.865	0.79399228381151099	0.12724	0.00151	0.00912	N	AEFI	0.030117	0.02969	N	-1.06501342529025	0.07296	0.3385065	-1.21870207145886	0.05610	0.2677609	1.20879728309131E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.292	0.292	0.14987	0.172000	0.16518	-1.238000	0.05941	0.206000	0.17947	0.001000	0.13787	0.000000	0.08366	0.129000	0.19529	.	.	.	952	0.10565	Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	134.43	34	chr19	7056494	.	C	T	134.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.3;MQRankSum=0.44;QD=1.49;ReadPosRankSum=-2.209;SOR=0.773	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,111,1665	9	0	1	0
chr19	7083311	7083311	C	T	exonic	ZNF557	.	nonsynonymous SNV	ZNF557:NM_001044387:exon8:c.C860T:p.T287M,ZNF557:NM_001044388:exon8:c.C839T:p.T280M,ZNF557:NM_024341:exon8:c.C860T:p.T287M	.	425	1095	2	0	0	2	0.000912409	.	.	.	2281275	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00712544142379	0.0003	.	0.0003	0.0002	8.64e-05	0	0.0002	0.0005	0	0.0002	0.0001229	19	154602	rs200539541	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0006	4.472e-05	0	0	7.488e-05	0.0005	0.0006	0.0004	4.637e-05	0.0003	0.0003	0.0005	0.0002	0.0006	0.0003	0.0002	0.0004	0.0004	0.0002	0	0.0001	0	0	9.448e-05	0	0.0006	0	0.0004	0.047	0.47320	D	0.004	0.74150	D	1.0	0.90584	D	0.951	0.72444	D	.	.	.	.	0.998765	0.22536	N	2.745	0.80253	M	1.74	0.26301	T	-5.37	0.84882	D	0.369	0.41063	-1.0438	0.16177	T	0.137	0.45375	T	9	0.21291697	0.37767	T	0.007125	0.18869	T	0.138	0.37187	.	.	0.492952963295	0.48930	0.030227999030409007	0.02971	0.391853242021	0.40381	0.554976761341	0.46559	T	0.234898	0.60203	T	-0.344428	0.05088	T	-0.362609	0.37750	T	0.916126847267151	0.57342	D	0.50225	0.15758	T	0.11654145	0.27487	0.19018579	0.42407	0.11654145	0.27487	0.19018579	0.42407	-8.453	0.64157	D	.	.	0.245	0.49645	B	.;.	.;.	3.100588	0.41782	21.4	0.99546344161697653	0.70836	0.00006	0.00120	N	AEFDGBHCI	0.063469	0.12268	N	0.0124829018256928	0.42423	2.555737	-0.246635620373899	0.29887	1.678151	0.915431190843468	0.26483	0.250623	0.04238	3	0.552637	0.17590	0	0.465395	0.07113	1	0.549297	0.17558	0	.	.	1.32	1.32	0.20897	2.373000	0.43920	0.345000	0.17419	-0.696000	0.04083	0.974000	0.34632	0.001000	0.17328	0.049000	0.15107	0.0:1.0:0.0:0.0	8.549	0.32598	946	0.12043	.;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2387.43	166	chr19	7083311	.	C	T	2387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=481;ExcessHet=0;FS=4.483;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.38;ReadPosRankSum=0.297;SOR=0.585	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,111,1216	9	0	1	0
chr19	7529119	7529119	G	A	exonic	MCOLN1	.	nonsynonymous SNV	MCOLN1:NM_020533:exon10:c.G1153A:p.V385I	Mucolipidosis IV, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3703285	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.0251333720172	.	0.000399361	1.65e-05	0.0002	0	0	0	0	0	0	2.59e-05	4	154602	rs550264072	1.368e-05	1.368e-05	1.498e-05	1.238e-05	7.557e-05	8.94e-06	7.26e-06	2.003e-05	1.055e-05	2.987e-05	6.708e-05	0	7.557e-05	1.88e-05	0	8.993e-06	3.311e-05	0	2.627e-05	2.625e-05	1.285e-05	4.029e-05	7.217e-05	8.14e-06	5.14e-06	1.914e-05	1.03e-05	7.217e-05	0	0	0	0	0	0	0	0.0005	0	0.13	0.26740	T	0.274	0.22084	T	0.006	0.13644	B	0.009	0.14300	B	0.001252	0.39669	N	0.244527	0.998076	0.46174	D	1.89	0.50145	L	-1.83	0.84122	D	-0.55	0.16799	N	0.208	0.23125	-0.5756	0.65791	T	0.386	0.74150	T	10	0.14777279	0.27994	T	0.025133	0.48109	D	0.136	0.36778	.	.	0.749927015805	0.74766	0.3446438373945996	0.34377	0.352532212189	0.37085	0.575296342373	0.49424	T	0.15494	0.49645	T	-0.249737	0.14131	T	-0.359838	0.38071	T	0.077054182709583	0.09606	T	0.732927	0.34859	T	0.07378976	0.16514	0.06450458	0.12937	0.07378976	0.16514	0.06450458	0.12936	-8.956	0.67413	D	0.17839980350318455	0.22862	0.072	0.04316	B	.	.	2.903260	0.38485	20.7	0.98871094049096242	0.47649	0.85520	0.44661	D	AEFGBI	0.331213	0.43101	N	-0.312442045261299	0.28674	1.58359	-0.185843385104111	0.32056	1.820015	0.981304745005637	0.30245	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.27	3.14	0.35196	1.693000	0.37360	5.132000	0.47660	0.676000	0.76740	0.977000	0.34929	1.000000	0.68203	0.947000	0.49155	0.1679:0.0:0.8321:0.0	9.929	0.40681	846	0.36215	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2279.43	51	chr19	7529119	.	G	A	2279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.492;DP=526;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=-0.606;SOR=0.729	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1181	9	0	1	0
chr19	7631506	7631506	C	T	exonic	PET100	.	nonsynonymous SNV	PET100:NM_001171155:exon4:c.C172T:p.R58W	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	.	.	.	.	.	.	.	.	.	.	2013604	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.617	0.112943574383	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756201257	4.335e-06	4.104e-06	1.426e-06	7.321e-06	3.789e-05	1.56e-06	1.02e-06	1.006e-05	4.79e-06	0	0	0	2.801e-05	0	0	1.854e-06	0	3.789e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.92824	D	0.999	0.77913	D	0.855	0.60933	P	.	.	.	.	0.952959	0.37808	D	.	.	.	.	.	.	.	.	.	0.616	0.63204	-0.3924	0.72266	T	0.295	0.66669	T	7	0.6535407	0.69741	D	0.112944	0.79128	D	0.617	0.85091	0.557	0.67547	0.281381271821	0.27740	0.9524434676313074	0.95228	.	.	0.467569559813	0.34347	T	0.178755	0.52951	T	-0.0715108	0.41085	T	-0.212718	0.53435	T	0.875953316688538	0.52583	D	0.927707	0.73352	D	0.57235867	0.71190	0.6748621	0.80910	0.57235867	0.71191	0.6748621	0.80911	-10.48	0.76732	D	0.3999891913204591	0.49193	0.149	0.48039	B	.;.	.;.	4.892634	0.80347	27.3	0.9991533336835775	0.98379	0.91513	0.53688	D	AEFBI	0.711800	0.66513	D	0.42160677699456	0.62611	4.479925	0.378319711846455	0.60231	4.208351	0.999992279707028	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.17	4.17	0.48303	1.927000	0.39724	5.825000	0.50115	0.599000	0.40250	0.947000	0.32937	1.000000	0.68203	0.955000	0.50612	0.2142:0.7858:0.0:0.0	9.302	0.37010	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	940.43	33	chr19	7631506	.	C	T	940.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.149;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.746;SOR=0.828	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	9	0	1	0
chr19	7631533	7631533	C	T	exonic	PET100	.	nonsynonymous SNV	PET100:NM_001171155:exon4:c.C199T:p.R67C	Mitochondrial complex IV deficiency, Autosomal recessive, Mitochondrial	423	1091	8	0	0	8	0.00365297	.	.	.	377914	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.169	.	.	0.0267572	0.0041	0.0017	0.0072	0.0977	0	0.0016	0.0139	0.0026	0.0020892	323	154602	rs117661715	0.0040	0.0039	0.0041	0.0039	0.0817	0.0039	0.0039	0.0793	0.0783	0.0003	0.0085	0.0028	0.0817	0.0334	0.0008	0.0004	0.0064	0.0026	0.0076	0.0076	0.0054	0.0098	0.1001	0.0072	0.0070	0.0930	0.0901	0.0007	0	0.0050	0.0020	0.1001	0.0383	0	0.0010	0.0052	0.0064	.	.	.	0.002	0.79402	D	0.999	0.77913	D	0.855	0.60933	P	.	.	.	.	0.994581	0.42337	D	.	.	.	.	.	.	.	.	.	0.441	0.47949	-0.8826	0.49553	T	0.018	0.07706	T	7	0.002824366	0.00045	T	.	.	.	0.169	0.43123	.	.	.	.	0.8000398010438059	0.79957	.	.	0.267800301313	0.05856	T	0.069941	0.33837	T	-0.397193	0.02415	T	-0.268564	0.47965	T	0.0446705245562831	0.04542	T	0.850115	0.54891	D	0.4398117	0.63391	0.40352994	0.64806	0.46711275	0.65113	0.3854686	0.63462	-10.484	0.76755	D	0.36386840389665337	0.46005	0.130	0.35225	B	.;.	.;.	3.137424	0.42422	21.5	0.99882673285282308	0.95813	0.49489	0.28445	N	AEFBI	0.647298	0.62252	D	0.0612813298377884	0.44663	2.736262	-0.0726924661619282	0.36525	2.126648	0.999999803655976	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.17	4.17	0.48303	0.639000	0.24378	1.369000	0.25941	0.599000	0.40250	0.009000	0.18154	0.101000	0.22673	0.031000	0.13245	0.0:1.0:0.0:0.0	13.531	0.61079	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003086	0.000000	0.000000	0.007692	0.000000	0.000000	0.008929	0.000000	0.05	697.43	33	chr19	7631533	.	C	T	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-1.574;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	9	0	1	0
chr19	7689215	7689215	G	A	exonic	FCER2	.	nonsynonymous SNV	FCER2:NM_001207019:exon10:c.C941T:p.P314L,FCER2:NM_001220500:exon11:c.C944T:p.P315L,FCER2:NM_002002:exon11:c.C944T:p.P315L	.	385	1136	1	0	0	1	0.000439947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0101	0.0101837	0.0032	0.0365	0.0013	0	0	0.0002	0	0	0.0030142	466	154602	rs34694289	0.0010	0.0010	0.0011	0.0008	0.0315	0.0009	0.0009	0.0299	0.0293	0.0315	0.0017	0	0	0.0003	0.0011	0.0001	0.0020	5.802e-05	0.0093	0.0094	0.0095	0.0091	0.0324	0.0089	0.0088	0.0310	0.0304	0.0324	0	0.0025	0	0	0	0.0102	0.0001	0.0104	0	0.0	0.91255	D	0.0	0.92824	D	0.009	0.15093	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.71	0.04114	T	-0.64	0.18670	N	0.044	0.01658	-0.9321	0.43829	T	0.003	0.00864	T	9	0.0031080246	0.00052	T	.	.	.	0.015	0.02232	.	.	0.294918367191	0.29099	0.3984717539420206	0.39762	0.0753772190041	0.08448	0.33345502615	0.15455	T	0.019513	0.15531	T	-0.72204	0.00027	T	-0.783477	0.02350	T	0.00665360539833033	0.00075	T	0.593441	0.21910	T	0.07669258	0.17361	0.0744209	0.16278	0.07669258	0.17361	0.0744209	0.16278	-4.348	0.28844	T	.	.	0.087	0.11076	B	.;.;.	.;.;.	0.803929	0.11744	8.323	0.95204584216940502	0.26403	0.02252	0.06522	N	AEFDBCI	0.043745	0.06953	N	-1.13192165711044	0.06082	0.2790529	-1.17794849200178	0.06280	0.3017636	0.938286168991519	0.27336	0.67177	0.52595	0	0.702456	0.74545	0	0.603688	0.36954	0	0.542086	0.14980	0	.	.	2.72	-0.925	0.09926	-0.171000	0.09872	1.869000	0.29374	-0.171000	0.11205	0.000000	0.06391	0.062000	0.22056	0.003000	0.05239	0.1588:0.4449:0.3963:0.0	4.264	0.10203	793	0.45818	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	744.43	34	chr19	7689215	.	G	A	744.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.33;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.123;SOR=0.622	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1035	9	0	1	0
chr19	7730841	7730841	T	A	exonic	CLEC4G	.	nonsynonymous SNV	CLEC4G:NM_001244856:exon5:c.A266T:p.Q89L,CLEC4G:NM_198492:exon5:c.A302T:p.Q101L	.	636	861	20	5	0	30	0.0171233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	.	.	0.0101837	0.0229	0.0053	0	0	0	0.0082	0.0082	0.0303	0.0031953	494	154602	rs36064197	0.0097	0.0093	0.0089	0.0105	0.0289	0.0096	0.0095	0.0279	0.0275	0.0016	0.0032	0.0032	0	0.0140	0.0148	0.0091	0.0084	0.0289	0.0077	0.0077	0.0073	0.0081	0.0292	0.0073	0.0071	0.0253	0.0238	0.0019	0	0.0033	0.0026	0	0.0172	0.0274	0.0100	0.0061	0.0292	0.163	0.23450	T	0.318	0.19246	T	0.001	0.07471	B	0.001	0.04355	B	0.062862	0.22066	N	0.233416	1	0.08975	N	1.355	0.33814	L	5.39	0.01025	T	-2.44	0.53420	N	0.13	0.12484	-0.9024	0.47739	T	0.003	0.00929	T	10	0.003191352	0.00054	T	.	.	.	0.021	0.04004	.	.	.	.	0.281461959459011	0.28059	0.475177538353	0.46692	0.34300673008	0.16888	T	0.034478	0.23338	T	-0.613224	0.00121	T	-0.631318	0.10315	T	0.000717836883073348	0.00006	T	0.447355	0.12562	T	0.084376894	0.19527	0.077011086	0.17113	0.084376894	0.19527	0.077011086	0.17112	-4.601	0.32184	T	.	.	0.071	0.18828	B	.;.	.;.	1.426226	0.18436	13.74	0.73743340794885404	0.10439	0.01741	0.05494	N	AEFDBHI	0.067515	0.13275	N	-0.925637646405639	0.10245	0.4886584	-0.948569541555381	0.10956	0.5552066	0.992607985525564	0.32901	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	4.03	1.92	0.24912	0.209000	0.17231	1.305000	0.25500	0.640000	0.52149	0.012000	0.18695	0.684000	0.26137	0.028000	0.12845	0.2408:0.1198:0.0:0.6394	2.824	0.05143	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006993	0.012500	0.004310	0.000000	0.000000	0.000000	0.012097	0.010417	0.05	332.43	30	chr19	7730841	.	T	A	332.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=272;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=1.8;SOR=0.765	GT:AD:DP:GQ:PL	0/0:21,0:21:60:0,60,675	9	0	1	0
chr19	7846639	7846639	G	A	exonic	EVI5L	.	nonsynonymous SNV	EVI5L:NM_001159944:exon2:c.G97A:p.D33N,EVI5L:NM_145245:exon2:c.G97A:p.D33N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.01411501964	.	.	8.437e-06	0	8.696e-05	0	0	0	0	0	6.5e-06	1	154602	rs752591195	8.211e-06	8.209e-06	6.808e-06	9.629e-06	5.8e-05	4.38e-06	3.46e-06	2.194e-05	1.43e-05	0	2.237e-05	0	2.52e-05	0	0	4.497e-06	0	5.8e-05	6.572e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.057	0.37966	T	0.114	0.36901	T	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	N	0.057490	0.999964	0.52935	D	1.91	0.51138	L	3.44	0.05375	T	-2.88	0.60507	D	0.329	0.44090	-1.1811	0.00354	T	0.051	0.21611	T	10	0.2734401	0.44893	T	0.014115	0.34021	T	0.192	0.47115	0.151	0.05441	0.401767401478	0.39795	0.773925030984139	0.77342	2.11594841372	0.94961	0.710477471352	0.68663	T	0.21438	0.57595	T	-0.379119	0.03155	T	-0.578755	0.14655	T	0.859674751758575	0.51021	D	0.90401	0.66351	D	0.2496083	0.47956	0.20666046	0.44889	0.2496083	0.47956	0.20666046	0.44888	-7.278	0.56038	T	.	.	0.527	0.65789	A	.;.	.;.	5.194908	0.87139	29.1	0.99847246983305293	0.92663	0.98330	0.81695	D	AEFDBI	0.844460	0.76142	D	0.594645945216863	0.72838	5.869409	0.517729503302975	0.69182	5.324245	0.316327309149483	0.19339	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.78	3.74	0.42108	8.057000	0.89250	9.744000	0.81446	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0939:0.0:0.9061:0.0	10.774	0.45540	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1044.43	37	chr19	7846639	.	G	A	1044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.37;DP=411;ExcessHet=0;FS=5.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.314;SOR=0.96	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1234	9	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	233.11	92	chr19	7871678	.	G	C	233.11	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.979;DP=756;ExcessHet=0.2348;FS=265.489;InbreedingCoeff=-0.2145;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.776;SOR=8.838	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,103,1581	6	0	2	2
chr19	7899883	7899883	C	G	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.C974G:p.P325R,LRRC8E:NM_025061:exon3:c.C1361G:p.P454R,LRRC8E:NM_001268284:exon4:c.C1361G:p.P454R	.	399	1118	5	0	0	5	0.00223115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.019314781932	0.0025	0.000998403	0.0024	0.0008	0.0017	0	0.0041	0.0033	0.0023	0.0007	0.0023803	368	154602	rs146365216	0.0037	0.0037	0.0037	0.0036	0.0042	0.0036	0.0036	0.0041	0.0041	0.0006	0.0017	0.0047	0	0.0029	0.0016	0.0042	0.0034	0.0009	0.0024	0.0024	0.0026	0.0022	0.0037	0.0022	0.0021	0.0033	0.0032	0.0006	0	0.0022	0.0020	0	0.0036	0	0.0037	0.0024	0.0006	0.105	0.29823	T	0.029	0.54541	D	0.904	0.49848	P	0.451	0.46123	P	0.000002	0.62929	D	0.059184	0.99639	0.43179	D	1.15	0.29295	L	2.2	0.18570	T	-1.31	0.32791	N	0.347	0.40264	-1.1371	0.01470	T	0.054	0.22846	T	10	0.009659946	0.00217	T	0.019315	0.41651	T	0.097	0.27909	.	.	0.883975914383	0.88284	0.5380779568896664	0.53732	0.924933325198	0.71604	0.49977940321	0.38797	T	0.004615	0.04018	T	-0.444796	0.01212	T	-0.414117	0.31751	T	0.00709060371173374	0.00081	T	0.758424	0.38228	T	0.20297141	0.42359	0.16559795	0.38301	0.20297141	0.42359	0.16559795	0.38300	-6.193	0.47866	T	.	.	0.234	0.47404	B	.;.	.;.	3.308599	0.45448	22.1	0.99652609866015096	0.77380	0.95551	0.65172	D	AEFDBCI	0.829514	0.74840	D	0.353465002440647	0.58923	4.06764	0.38243287015595	0.60481	4.236286	0.999999650394081	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.64	4.64	0.57399	6.062000	0.70788	4.825000	0.45150	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.0:1.0:0.0:0.0	15.043	0.71471	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.010101	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1103.43	83	chr19	7899883	.	C	G	1103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.26;DP=445;ExcessHet=0;FS=0.824;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=-1.141;SOR=0.805	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,101,1483	9	0	1	0
chr19	7900767	7900767	C	T	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.C1858T:p.R620C,LRRC8E:NM_025061:exon3:c.C2245T:p.R749C,LRRC8E:NM_001268284:exon4:c.C2245T:p.R749C	.	.	.	.	.	.	.	.	.	.	.	2697032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.00730594665891	.	.	1.719e-05	0	8.735e-05	0	0	1.563e-05	0	0	2.59e-05	4	154602	rs766935308	3.84e-05	3.831e-05	3.546e-05	4.138e-05	0.0005	3.033e-05	2.726e-05	0.0003	0.0003	2.995e-05	0.0005	0	0	0	0.0002	1.892e-05	0.0001	5.807e-05	7.883e-05	7.88e-05	8.99e-05	6.724e-05	0.0007	4.496e-05	3.511e-05	0.0004	0.0003	2.411e-05	0	0.0007	0	0	0	0	0	0.0005	0	0.08	0.33585	T	0.252	0.23570	T	0.023	0.18885	B	0.003	0.08700	B	0.013584	0.28793	N	0.355460	0.998739	0.45356	D	1.56	0.39490	L	1.8	0.25344	T	-2.1	0.47852	N	0.395	0.43610	-1.0858	0.06263	T	0.036	0.15509	T	10	0.09487566	0.16904	T	0.007306	0.19388	T	0.066	0.19193	.	.	0.449956787536	0.44615	0.5403833382270999	0.53963	0.613671870099	0.55921	0.517971634865	0.41340	T	0.004997	0.04428	T	-0.412473	0.01914	T	-0.51411	0.20893	T	0.0526075572583939	0.05951	T	0.953705	0.82322	D	0.11459764	0.27052	0.052502625	0.08661	0.11459764	0.27052	0.052502625	0.08660	-7.029	0.54245	T	.	.	0.171	0.38117	B	.;.	.;.	3.211824	0.43726	21.8	0.99872480205851388	0.94989	0.31245	0.24289	N	AEFDGBCI	0.242272	0.36375	N	-0.390096714530565	0.25820	1.404532	-0.24989531169729	0.29774	1.670941	0.999995988815996	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.35	4.35	0.51454	1.045000	0.29951	4.015000	0.41197	0.549000	0.26987	0.407000	0.26226	1.000000	0.68203	0.886000	0.42526	0.2089:0.7911:0.0:0.0	9.595	0.38735	879	0.29470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	935.43	46	chr19	7900767	.	C	T	935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.28;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.221;SOR=0.71	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,101,1483	9	0	1	0
chr19	8094545	8094545	G	A	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon47:c.C5806T:p.L1936F,FBN3:NM_032447:exon47:c.C5806T:p.L1936F	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0412036112534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.368e-06	1.362e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.714	0.03996	T	0.385	0.15746	T	0.046	0.21875	B	0.066	0.27432	B	0.005131	0.33071	N	0.253757	0.996104	0.43019	D	0.345	0.11182	N	-2.99	0.92108	D	-1.11	0.28703	N	0.117	0.12341	-0.5277	0.67628	T	0.505	0.81368	D	10	0.058603406	0.06915	T	0.041204	0.59800	D	0.131	0.35738	0.474	0.55020	0.56468994859	0.56133	0.48926036958206537	0.48846	0.282033691063	0.30668	0.295805752277	0.09777	T	0.097982	0.40135	T	-0.0287404	0.47599	T	-0.27906	0.46901	T	0.133787676692009	0.15728	T	0.161184	0.01454	T	0.043630704	0.06835	0.044588026	0.05809	0.043630704	0.06834	0.044588026	0.05809	-8.437	0.64010	D	.	.	0.070	0.03407	B	.;.;.	.;.;.	1.017488	0.13970	10.53	0.56148507846704143	0.05490	0.20652	0.21119	N	AEFBI	0.094381	0.19083	N	-0.799212729628742	0.13330	0.6559477	-0.745521817087744	0.15832	0.8346343	2.10565451128842E-5	0.02871	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.613276	0.41899	0	.	.	4.82	0.922	0.18534	0.509000	0.22414	.	.	-0.113000	0.14837	0.018000	0.19461	0.014000	0.20376	0.642000	0.32476	0.1682:0.1302:0.7016:0.0	8.594	0.32869	768	0.49510	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	893.43	69	chr19	8094545	.	G	A	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=428;ExcessHet=0;FS=3.26;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=1.24;SOR=0.951	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr19	8096554	8096554	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon44:c.G5429A:p.R1810Q,FBN3:NM_032447:exon44:c.G5429A:p.R1810Q	.	.	.	.	.	.	.	.	.	.	.	742227	not_provided|FBN3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.362	0.0329796350637	0.0024	0.000998403	0.0006	0.0066	0	0	0	9.048e-05	0	0	0.0005369	83	154602	rs145090095	0.0003	0.0003	0.0003	0.0002	0.0060	0.0002	0.0002	0.0053	0.0051	0.0060	0.0005	0	0.0001	0	0.0003	0.0001	0.0005	8.126e-05	0.0017	0.0017	0.0018	0.0017	0.0059	0.0016	0.0015	0.0053	0.0051	0.0059	0	0.0005	0	0.0004	0	0	0.0001	0	0	0.348	0.12386	T	0.91	0.02961	T	0.716	0.42206	P	0.089	0.29769	B	0.000018	0.62929	U	0.070016	0.996404	0.23025	N	-0.23	0.03940	N	-2.98	0.92057	D	0.45	0.03191	N	0.064	0.03841	-0.3880	0.72404	T	0.244	0.61308	T	10	0.008636445	0.00196	T	0.03298	0.54655	D	0.362	0.68230	.	.	0.313518423057	0.30959	0.2967384571808825	0.29586	0.223144157896	0.24838	0.243772476912	0.03140	T	0.041329	0.25821	T	-0.377622	0.03225	T	-0.31287	0.43351	T	0.0256642780895959	0.01361	T	0.582942	0.21167	T	0.030904753	0.02834	0.048950773	0.07378	0.030904753	0.02834	0.048950773	0.07378	-2.947	0.09621	T	.	.	0.060	0.00890	B	.;.;.	.;.;.	0.292891	0.06690	3.195	0.64013242098421097	0.07378	0.07333	0.13354	N	AEFBCI	0.059081	0.11133	N	-1.24329081102799	0.04389	0.1979648	-1.25750399727652	0.05020	0.2382538	0.00808213200123637	0.11607	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.503917	0.08554	0	.	.	3.63	-4.65	0.03100	-0.064000	0.11593	.	.	-0.780000	0.03343	0.150000	0.23655	0.000000	0.08366	0.667000	0.33166	0.0:0.1441:0.0:0.8559	12.211	0.53690	778	0.48011	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	824.43	35	chr19	8096554	.	C	T	824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.64;DP=385;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.109;SOR=0.713	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr19	8111069	8111069	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon33:c.G4199A:p.R1400Q,FBN3:NM_032447:exon33:c.G4199A:p.R1400Q	.	415	1089	17	1	0	19	0.00864816	.	.	.	1128262	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0572352569287	0.0012	0.000998403	0.0016	0.0002	0.0020	0.0019	0.0006	0.0021	0.0034	0.0006	0.0016041	248	154602	rs140448414	0.0017	0.0017	0.0017	0.0017	0.0142	0.0017	0.0016	0.0117	0.0108	0.0003	0.0026	0.0005	0.0018	0.0002	0.0142	0.0018	0.0016	0.0007	0.0017	0.0017	0.0019	0.0016	0.0032	0.0016	0.0015	0.0025	0.0022	0.0004	0.0077	0.0032	0.0006	0.0017	0	0.0102	0.0025	0.0024	0.0004	0.319	0.13610	T	0.402	0.14912	T	0.044	0.21686	B	0.027	0.21085	B	0.002601	0.36243	U	0.206112	0.999418	0.21230	N	2.05	0.56469	M	-2.93	0.91800	D	-1.57	0.37955	N	0.09	0.06854	-0.4500	0.70400	T	0.493	0.80757	T	10	0.0081424415	0.00185	T	0.057235	0.66892	D	0.077	0.22490	.	.	0.664903063441	0.66208	0.2750296332005099	0.27415	0.319035525961	0.34116	0.213713020086	0.00979	T	0.124644	0.44982	T	-0.429756	0.01487	T	-0.394706	0.34001	T	0.0168729701527566	0.00440	T	0.292171	0.05356	T	0.06540151	0.13973	0.05813196	0.10688	0.06540151	0.13973	0.05813196	0.10688	-5.347	0.40406	T	.	.	0.066	0.02091	B	.;.;.	.;.;.	1.502334	0.19308	14.20	0.95475789574083936	0.27030	0.04438	0.10037	N	AEFDBI	0.063337	0.12232	N	-0.821365042290503	0.12765	0.624336	-0.856969919442249	0.13121	0.6788787	0.532305430104596	0.21185	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.542086	0.14980	0	.	.	3.67	1.43	0.21585	-0.509000	0.06419	.	.	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.0:0.4446:0.0:0.5554	6.422	0.20953	923	0.18507	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012085	0.005051	0.016304	0.023392	0.000000	0.000000	0.003049	0.007576	0.05	2062.43	35	chr19	8111069	.	C	T	2062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.888;DP=489;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.282;SOR=0.628	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1223	9	0	1	0
chr19	8123798	8123798	C	T	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon23:c.G2942A:p.R981Q,FBN3:NM_032447:exon23:c.G2942A:p.R981Q	.	422	1082	17	1	0	19	0.00870362	.	.	.	1149199	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.213	0.00630185888527	0.0010	0.000998403	0.0015	0.0008	0.0020	0.0002	0.0002	0.0020	0.0047	0.0005	0.0015977	247	154602	rs147035742	0.0017	0.0017	0.0017	0.0017	0.0146	0.0016	0.0016	0.0121	0.0112	0.0005	0.0030	0.0005	7.557e-05	3.789e-05	0.0146	0.0019	0.0016	0.0008	0.0017	0.0017	0.0018	0.0016	0.0029	0.0015	0.0015	0.0022	0.0021	0.0007	0.0077	0.0029	0.0006	0.0002	0	0.0102	0.0025	0.0019	0.0004	0.025	0.47320	D	0.034	0.52727	D	0.105	0.25993	B	0.005	0.11217	B	0.004892	0.33292	N	0.265877	0.967826	0.38619	D	1.21	0.30464	L	-2.21	0.86963	D	-1.98	0.45769	N	0.199	0.21969	-0.7912	0.55659	T	0.334	0.70142	T	10	0.015554756	0.00326	T	0.006302	0.16551	T	0.213	0.50496	.	.	0.485991781493	0.48229	0.6298403361476462	0.62918	0.232148426963	0.25761	0.223081871867	0.01496	T	0.047907	0.27862	T	-0.407141	0.02077	T	-0.361285	0.37903	T	0.00994885775574709	0.00132	T	0.860814	0.55431	D	0.043586027	0.06818	0.04302608	0.05258	0.043586027	0.06818	0.04302608	0.05258	-7.864	0.60140	D	.	.	0.067	0.02342	B	.;.;.	.;.;.	-0.265406	0.02772	0.375	0.95980123835058828	0.28354	0.15338	0.18862	N	AEFDBI	0.137104	0.25798	N	-1.23649935210711	0.04481	0.2023165	-1.35407493213619	0.03758	0.1759698	0.00144747819953945	0.08543	0.631515	0.41029	0	0.573888	0.26702	0	0.697927	0.64325	0	0.613276	0.41899	0	.	.	3.41	-2.4	0.06204	-0.300000	0.08280	.	.	-1.112000	0.01489	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6111:0.0:0.3889	8.030	0.29619	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012158	0.010101	0.016304	0.023529	0.000000	0.000000	0.003106	0.007692	0.05	434.43	34	chr19	8123798	.	C	T	434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=301;ExcessHet=0;FS=2.928;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.451;SOR=1.053	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,692	9	0	1	0
chr19	8138221	8138221	G	C	exonic	FBN3	.	nonsynonymous SNV	FBN3:NM_001321431:exon10:c.C1121G:p.P374R,FBN3:NM_032447:exon10:c.C1121G:p.P374R	.	403	1112	7	0	0	7	0.00313761	.	.	.	757357	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.155	0.00874525464862	0.0005	0.000798722	0.0008	0	0.0003	0.0001	0	0.0012	0.0012	0.0006	0.0007438	115	154602	rs142847357	0.0007	0.0007	0.0006	0.0007	0.0021	0.0006	0.0006	0.0012	0.0009	2.997e-05	0.0003	0.0116	2.519e-05	0	0.0021	0.0005	0.0010	0.0007	0.0005	0.0005	0.0004	0.0005	0.0006	0.0004	0.0004	0.0004	0.0004	9.616e-05	0	0.0001	0.0063	0	0	0	0.0006	0.0005	0.0006	0.564	0.06302	T	0.631	0.07173	T	0.0	0.02946	B	0.0	0.01387	B	0.006873	0.31745	U	0.000000	1	0.08975	N	-0.345	0.03330	N	-2.16	0.86549	D	-1.96	0.45404	N	0.135	0.13198	-0.8284	0.53403	T	0.293	0.66450	T	10	0.0046862364	0.00098	T	0.008745	0.23074	T	0.155	0.40530	.	.	0.471052466308	0.46733	0.6606728285068566	0.66004	0.201026677279	0.22505	0.351193159819	0.18097	T	0.049061	0.28197	T	-0.41214	0.01924	T	-0.468993	0.25625	T	0.00987980011636055	0.00131	T	0.20258	0.02331	T	0.025027743	0.01394	0.040235918	0.04303	0.025027743	0.01394	0.040235918	0.04302	-3.828	0.21223	T	.	.	0.057	0.00514	B	.;.;.	.;.;.	-0.294046	0.02643	0.335	0.18974491837811952	0.00620	0.00373	0.01896	N	AEFDBI	0.020907	0.00875	N	-1.41721890646738	0.02487	0.1099057	-1.4378587572183	0.02882	0.1334057	1.28309282417661E-4	0.05386	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.562822	0.20929	0	.	.	3.85	-1.63	0.07900	-0.014000	0.12594	.	.	-1.915000	0.00511	0.068000	0.22015	0.090000	0.22521	0.000000	0.00833	0.1505:0.4119:0.4376:0.0	8.995	0.35211	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	981.43	34	chr19	8138221	.	G	C	981.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.764;DP=406;ExcessHet=0;FS=0.739;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.401;SOR=0.809	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1089	9	0	1	0
chr19	8366293	8366293	C	T	exonic	ANGPTL4	.	nonsynonymous SNV	ANGPTL4:NM_001039667:exon3:c.C521T:p.P174L,ANGPTL4:NM_139314:exon3:c.C521T:p.P174L	Plasma triglyceride level QTL, low, Autosomal dominant	414	1097	10	1	0	12	0.00543971	.	.	.	2238822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.0149133322065	.	0.000199681	0.0003	0	0.0003	0.0001	0	4.524e-05	0.0011	0.0014	0.000207	32	154602	rs533599788	0.0001	0.0001	8.713e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0011	0	0.0002	0	5.038e-05	0	0.0007	3.327e-05	0.0002	0.0013	4.597e-05	4.593e-05	3.855e-05	5.372e-05	0.0004	2.108e-05	1.526e-05	7.31e-05	3.036e-05	0	0	0.0001	0	0	0	0	2.94e-05	0.0005	0.0004	0.401	0.10447	T	0.199	0.27679	T	0.005	0.12996	B	0.002	0.06944	B	0.246194	0.03616	N	1.531500	1	0.08975	N	1.185	0.30054	L	0.61	0.55439	T	-0.65	0.20358	N	0.217	0.24260	-1.0447	0.15913	T	0.094	0.35631	T	10	0.011360824	0.00249	T	0.014913	0.35329	T	0.021	0.04004	.	.	0.498705051145	0.49506	0.38831998144325564	0.38746	0.198025470267	0.22181	0.253936111927	0.04194	T	0.04107	0.25738	T	-0.582513	0.00186	T	-0.644894	0.09315	T	0.00671661183022176	0.00075	T	0.581242	0.21054	T	0.024967367	0.01382	0.027465342	0.00901	0.024967367	0.01382	0.027465342	0.00901	-3.404	0.19067	T	.	.	0.064	0.03026	B	.;.	.;.	-0.223972	0.02971	0.442	0.43929190638016752	0.03342	0.05610	0.11516	N	AEFDBHCI	0.236161	0.35865	N	-1.31637936465698	0.03487	0.1558593	-1.32129358580669	0.04156	0.1954131	0.999998903670004	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.655142	0.61905	0	.	.	4.19	0.861	0.18186	-0.450000	0.06877	.	.	-1.690000	0.00773	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.678:0.0:0.322	6.294	0.20283	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002018	0.000000	0.001359	0.002924	0.000000	0.000000	0.006173	0.000000	0.05	1065.43	41	chr19	8366293	.	C	T	1065.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=441;ExcessHet=0;FS=0.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=0.045;SOR=0.572	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1133	9	0	1	0
chr19	8550318	8550318	C	T	exonic	MYO1F	.	nonsynonymous SNV	MYO1F:NM_001348355:exon10:c.G931A:p.G311R,MYO1F:NM_012335:exon10:c.G943A:p.G315R	.	412	1107	3	0	0	3	0.00135318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.211646175916	8e-05	.	0.0002	0.0001	0.0004	0.0005	0	0.0001	0	0.0002	0.0001682	26	154602	rs372083345	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	8.966e-05	0.0004	0	0.0002	0	0.0047	0.0002	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.711e-05	0.0002	8.375e-05	4.81e-05	0	0.0001	0	0.0006	0	0.0034	0.0002	0.0009	0.0004	0.333	0.13003	T	0.41	0.14544	T	0.489	0.36925	P	0.133	0.33073	B	0.285886	0.14858	N	0.669254	0.962979	0.26044	N	1.59	0.40313	L	-3.64	0.95145	D	-1.03	0.27052	N	0.207	0.22998	-0.1541	0.78815	T	0.691	0.89342	D	10	0.10761917	0.19997	T	0.211646	0.87315	D	0.280	0.59740	0.441	0.49648	0.848643455395	0.84719	0.4089715755658112	0.40813	0.715634832544	0.61964	0.403786063194	0.25596	T	0.421795	0.77308	T	-0.128765	0.31697	T	-0.121017	0.61720	T	0.0281013088045631	0.01703	T	0.69663	0.30630	T	0.0485345	0.08476	0.060151204	0.11409	0.0485345	0.08476	0.060151204	0.11409	-8.472	0.64244	D	.	.	0.115	0.23113	B	.;.;.	.;.;.	2.350253	0.30131	18.34	0.99010852296665242	0.50356	0.12221	0.17135	N	AEFBI	0.162640	0.28884	N	-0.488469292343104	0.22458	1.199334	-0.506897719047823	0.21965	1.190787	4.69699127710005E-4	0.07066	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	3.02	0.33970	0.441000	0.21325	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.990000	0.65344	0.0:0.8416:0.0:0.1584	10.419	0.43523	624	0.65661	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.005102	0.002717	0.014620	0.000000	0.008621	0.000000	0.000000	0.05	913.43	36	chr19	8550318	.	C	T	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.13;DP=372;ExcessHet=0;FS=2.652;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.03;ReadPosRankSum=0.401;SOR=0.943	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr19	8813136	8813136	T	G	exonic	ZNF558	.	nonsynonymous SNV	ZNF558:NM_001304350:exon3:c.A121C:p.T41P,ZNF558:NM_144693:exon8:c.A334C:p.T112P	.	430	1078	13	1	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.00139776	0.0065	0.0004	0.0108	0	0	0.0110	0.0140	0.0021	0.0028137	435	154602	rs61745089	0.0026	0.0026	0.0026	0.0026	0.0103	0.0025	0.0025	0.0082	0.0074	0.0004	0.0026	0.0346	0	0.0001	0.0103	0.0020	0.0053	0.0014	0.0026	0.0026	0.0028	0.0024	0.0053	0.0024	0.0023	0.0044	0.0040	0.0004	0	0.0053	0.0349	0	9.43e-05	0.0170	0.0022	0.0076	0.0012	0.211	0.19569	T	0.261	0.22962	T	0.001	0.07471	B	0.001	0.04355	B	0.548881	0.11457	N	0.712043	1	0.08975	N	0.7	0.18542	N	3.29	0.06445	T	-1.97	0.45587	N	0.095	0.09349	-0.9355	0.43318	T	0.010	0.03537	T	10	0.0049788654	0.00107	T	.	.	.	0.009	0.00846	.	.	0.0551355673512	0.04727	0.4434731397212186	0.44265	0.259224279476	0.28482	0.265417158604	0.05552	T	0.029155	0.20955	T	-0.67211	0.00053	T	-0.737812	0.03984	T	0.0015984344054372	0.00016	T	9.73128E-5	0.00000	T	0.14202425	0.32702	0.08483872	0.19547	0.14202425	0.32701	0.08483872	0.19547	-0.735	0.00748	T	.	.	0.065	0.01810	B	.;.	.;.	0.735706	0.11051	7.704	0.39315862816394936	0.02705	0.04976	0.10745	N	AEFBI	0.080046	0.16178	N	-1.18259583298992	0.05263	0.2395078	-1.19635402717445	0.05970	0.2860118	1.5385123730191E-5	0.02871	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	3.96	1.8	0.24069	0.035000	0.13685	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.1117:0.212:0.6764	4.053	0.09285	923	0.18507	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013623	0.035354	0.017711	0.008772	0.000000	0.008621	0.006135	0.003788	0.05	1070.43	38	chr19	8813136	.	T	G	1070.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.835;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.006;SOR=0.719	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	9	0	1	0
chr19	8843036	8843036	C	T	exonic	MBD3L1	.	nonsynonymous SNV	MBD3L1:NM_145208:exon1:c.C358T:p.P120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00622639104455	0.0018	0.00239617	0.0005	0.0056	0.0003	0	0	0	0	0	0.0004722	73	154602	rs140645228	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0.0066	0.0003	0	0	0	0.0002	4.497e-06	0.0004	0	0.0018	0.0018	0.0018	0.0017	0.0060	0.0016	0.0015	0.0054	0.0052	0.0060	0	0.0008	0	0	0	0	0	0.0019	0	0.029	0.45756	D	0.134	0.34241	T	0.35	0.33644	B	0.093	0.30104	B	0.387251	0.13306	N	0.565138	0.999996	0.08975	N	2.065	0.56745	M	0.87	0.46412	T	-6.17	0.90254	D	0.133	0.12913	-1.0621	0.11239	T	0.034	0.14726	T	10	0.007997811	0.00181	T	0.006226	0.16317	T	0.041	0.10877	.	.	0.327419511103	0.32360	0.36601532611475907	0.36515	0.128282148798	0.14463	0.250603288412	0.03832	T	0.511468	0.82737	D	-0.588299	0.00172	T	-0.615215	0.11565	T	0.0208333475691835	0.00783	T	0.294271	0.05429	T	0.14613718	0.33468	0.13781574	0.32931	0.14613718	0.33467	0.13781574	0.32930	-3.176	0.12190	T	.	.	0.088	0.11701	B	.;.	.;.	0.021249	0.04431	1.162	0.84848652854533779	0.15534	0.01674	0.05351	N	AEFDBI	0.035062	0.04449	N	-0.895901446049186	0.10939	0.5253167	-0.977839028693149	0.10284	0.5169462	1.66276414737991E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.71	0.177	0.14338	0.335000	0.19546	.	.	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2027:0.5701:0.0:0.2272	3.323	0.06643	958	0.09170	Methyl-CpG binding protein 2/3, C-terminal domain;Methyl-CpG binding protein 2/3, C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1798.43	35	chr19	8843036	.	C	T	1798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.771;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.472;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr19	8871528	8871528	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.C42071G:p.T14024S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0355230483822	0.0006	0.00179712	0.0003	0.0033	8.715e-05	0	0	0	0	0	0.0002911	45	154602	rs147970211	8.203e-05	8.687e-05	8.777e-05	7.623e-05	0.0030	6.988e-05	6.536e-05	0.0025	0.0024	0.0030	0.0001	0	0	0	0	0	0.0002	0	0.0009	0.0009	0.0010	0.0008	0.0031	0.0008	0.0007	0.0026	0.0025	0.0031	0	0.0005	0	0	0	0	0	0.0009	0	0.083	0.33091	T	0.113	0.36901	T	.	.	.	.	.	.	0.003002	0.35573	N	0.000000	0.999982	0.18198	N	.	.	.	1.18	0.37746	T	-2.47	0.53898	N	0.117	0.10626	-0.8404	0.52620	T	0.116	0.40919	T	9	0.007791728	0.00177	T	0.035523	0.56403	D	0.151	0.39764	.	.	0.295974979623	0.29207	0.382904205406767	0.38205	.	.	0.51866465807	0.41438	T	.	.	.	-0.476434	0.00776	T	-0.459877	0.26613	T	0.117810374017442	0.14214	T	0.506949	0.16072	T	.	.	.	.	.	.	.	.	-7.802	0.59713	D	.	.	0.198	0.42067	B	.	.	2.462671	0.31732	18.83	0.99239332510921197	0.56501	0.83743	0.42841	D	AEFDBI	0.258740	0.37722	N	0.174495721338541	0.49977	3.192296	0.0871415409408761	0.43900	2.682314	7.05646693136259E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	2.85	0.32333	4.541000	0.60381	.	.	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.1158:0.0:0.8842:0.0	7.686	0.27706	958	0.09170	SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	541.43	37	chr19	8871528	.	G	C	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=386;ExcessHet=0;FS=1.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=0.657;SOR=0.775	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1108	9	0	1	0
chr19	8882357	8882357	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.A41726C:p.H13909P	.	405	1047	70	0	0	70	0.0323475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00792783571824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796735167	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.375e-05	0.0031	2.685e-05	0	5.047e-05	2.28e-06	8.6e-07	8.36e-06	3.13e-06	5.047e-05	0	0	0	0	0	0	0	0	0	0.013	0.53900	D	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.42	0.33189	T	-2.13	0.48354	N	0.169	0.17966	-0.9248	0.44886	T	0.118	0.41538	T	8	0.10297388	0.18905	T	0.007928	0.21033	T	0.032	0.07718	.	.	0.12205267543	0.11705	0.27533970181248574	0.27446	.	.	0.296447068453	0.09873	T	.	.	.	-0.231789	0.16411	T	-0.570725	0.15383	T	0.117542110383511	0.14187	T	0.136186	0.01076	T	.	.	.	.	.	.	.	.	-5.776	0.44365	T	.	.	0.094	0.14523	B	.	.	1.063717	0.14459	11.03	0.92759947552597488	0.22269	0.03584	0.08802	N	AEFBI	0.044049	0.07038	N	-0.65132752016793	0.17421	0.8963414	-0.848972519843682	0.13313	0.6899027	8.8082630228839E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	0.168	0.14298	-0.323000	0.08039	.	.	0.481000	0.22134	0.000000	0.06391	0.000000	0.08366	0.263000	0.23594	0.0:0.1579:0.2494:0.5927	3.103	0.05949	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	276.98	78	chr19	8882357	.	T	G	276.98	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.24;DP=1173;ExcessHet=0;FS=3.776;InbreedingCoeff=-0.1261;MLEAC=1;MLEAF=0.063;MQ=58.78;MQRankSum=-8.023;QD=2.15;ReadPosRankSum=0.011;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,15:129:99:0|1:8882357_T_G:287,0,4708:8882357	7	0	1	2
chr19	8882360	8882360	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon67:c.C41723A:p.T13908N	.	407	1050	65	0	0	65	0.0300231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00551552653495	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175263485	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.846e-06	0.0029	1.337e-05	0	2.514e-05	0	0	.	.	2.514e-05	0	0	0	0	0	0	0	0	0	0.167	0.23095	T	0.11	0.37310	T	.	.	.	.	.	.	.	.	.	.	0.99995	0.19072	N	.	.	.	1.43	0.32958	T	-1.48	0.36189	N	0.215	0.24010	-0.9114	0.46682	T	0.117	0.41165	T	8	0.12792793	0.24332	T	0.005516	0.14197	T	0.036	0.09122	.	.	0.17948927462	0.17512	0.1012481156749268	0.10055	.	.	0.334889471531	0.15672	T	.	.	.	-0.280333	0.10633	T	-0.640456	0.09636	T	0.303562044834163	0.25150	T	0.377862	0.09067	T	.	.	.	.	.	.	.	.	-8.949	0.67368	D	.	.	0.129	0.27553	B	.	.	1.151135	0.15394	11.82	0.98214552204547234	0.39246	0.04046	0.09490	N	AEFBI	0.032139	0.03572	N	-0.171701422619438	0.34317	1.957244	-0.381415807223033	0.25551	1.405855	1.60312416966797E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.64	1.57	0.22490	0.080000	0.14657	.	.	0.488000	0.22294	0.002000	0.15269	0.022000	0.20871	0.320000	0.24970	0.1933:0.0:0.8067:0.0	4.506	0.11297	958	0.09170	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	270.73	78	chr19	8882360	.	G	T	270.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.527;DP=1171;ExcessHet=0;FS=2.357;InbreedingCoeff=-0.1114;MLEAC=1;MLEAF=0.063;MQ=58.8;MQRankSum=-8.095;QD=2.07;ReadPosRankSum=0.456;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,15:131:99:0|1:8882357_T_G:281,0,4792:8882357	7	0	1	2
chr19	8885665	8885665	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon61:c.A41231G:p.N13744S	.	427	1087	7	0	1	8	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00778774216405	.	0.000599042	0.0006	0	0.0021	0	0.0002	0.0007	0.0011	0.0002	0.0006274	97	154602	rs200034208	0.0004	0.0004	0.0004	0.0004	0.0080	0.0004	0.0004	0.0062	0.0055	0.0002	0.0019	0.0030	0	1.873e-05	0.0080	0.0003	0.0009	0.0002	0.0005	0.0005	0.0005	0.0005	0.0020	0.0004	0.0004	0.0014	0.0012	0	0	0.0020	0.0029	0	0	0.0034	0.0004	0.0014	0.0004	0.143	0.25355	T	0.109	0.37449	T	.	.	.	.	.	.	0.677227	0.06071	U	1.270180	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.69	0.19720	N	0.133	0.12913	-0.9356	0.43303	T	0.121	0.42058	T	9	0.0050973296	0.00110	T	0.007788	0.20668	T	0.045	0.12272	.	.	0.0138822411134	0.00435	0.2538184944056412	0.25295	.	.	0.202915936708	0.00546	T	.	.	.	-0.687575	0.00043	T	-0.79051	0.02151	T	0.0212829370191823	0.00830	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	-1.803	0.02518	T	.	.	0.080	0.07841	B	.	.	-0.943135	0.00856	0.030	0.51618427193325223	0.04596	0.00659	0.02856	N	AEFBI	0.033601	0.04018	N	-1.75824916017505	0.00655	0.02827615	-2.00815151153331	0.00295	0.0129998	0.243931175949956	0.18603	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.4	-6.81	0.01543	-2.590000	0.00974	.	.	-1.283000	0.01266	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4517:0.2274:0.3209	7.535	0.26875	952	0.10565	SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.013587	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	2955.43	38	chr19	8885665	.	T	C	2955.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=562;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-2.086;SOR=0.825	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1268	9	0	1	0
chr19	8886853	8886853	-	A	exonic	MUC16	.	frameshift insertion	MUC16:NM_024690:exon59:c.40892_40893insT:p.L13633Sfs*17	.	428	1083	11	0	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242170661	1.374e-06	0.0005	1.367e-06	1.38e-06	3.011e-05	2.3e-07	9e-08	.	.	3.011e-05	0	0	0	0	0	9.019e-07	0	0	4.022e-05	0.0074	2.622e-05	5.485e-05	0.0001	1.744e-05	1.148e-05	2.302e-05	9.22e-06	4.903e-05	0	0.0001	0	0	9.593e-05	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	257.39	194	chr19	8886853	.	G	GA	257.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.08;DP=1827;ExcessHet=0;FS=31.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.56;MQRankSum=-12.69;QD=1.33;ReadPosRankSum=-0.024;SOR=6.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:127,0:127:99:.:.:0,120,1800:.	9	0	1	0
chr19	8886858	8886858	C	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon59:c.40888delG:p.A13630Pfs*60	.	428	1072	8	0	14	22	0.00371747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359563111	2.072e-06	0.0006	2.749e-06	1.389e-06	3.052e-05	5.5e-07	1.5e-07	.	.	3.052e-05	0	0	0	0	0	9.056e-07	1.679e-05	0	8.314e-05	0.0078	5.418e-05	0.0001	0.0002	4.725e-05	3.692e-05	5.578e-05	2.916e-05	5.081e-05	0	0.0002	0	0	0.0003	0	3.101e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	241.39	185	chr19	8886857	.	GC	G	241.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.07;DP=1611;ExcessHet=0;FS=28.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.65;MQRankSum=-13.19;QD=1.3;ReadPosRankSum=-0.416;SOR=6.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:127,0:127:99:.:.:0,120,1800:.	9	0	1	0
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	1805.06	363	chr19	8888745	.	G	A	1805.06	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.46;DP=4623;ExcessHet=0.7463;FS=1.775;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.125;MQ=56.82;MQRankSum=-12.22;QD=1.23;ReadPosRankSum=-3.94;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:430,0:430:99:.:.:0,120,1800:.	6	0	2	2
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	185.37	363	chr19	8888746	.	T	G	185.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=1.19;DP=4612;ExcessHet=0.2348;FS=1.108;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=56.67;MQRankSum=-9.603;QD=0.2;ReadPosRankSum=-4.817;SOR=0.975	GT:AD:DP:GQ:PL	0/0:430,0:430:99:0,120,1800	7	0	2	1
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1666.14	467	chr19	8888803	.	G	A	1666.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.64;DP=4501;ExcessHet=0.2348;FS=0.824;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.71;MQRankSum=-9.691;QD=1.65;ReadPosRankSum=1.46;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:520,0:520:60:.:.:0,60,12602:.	8	0	2	0
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	11246.2	434	chr19	8888822	.	GCTTT	*	11246.2	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.98;DP=4397;ExcessHet=22.563;FS=10.155;InbreedingCoeff=-1;MLEAC=1;MLEAF=0.05;MQ=57.39;MQRankSum=-11.2;QD=2.91;ReadPosRankSum=0.825;SOR=1.313	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:279,55:441:99:.:.:3961,1602,13446:.	9	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,85:422:99:0|1:8888826_T_*:2731,0,11579:8888826	2	0	8	0
chr19	8892957	8892957	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon49:c.A40007G:p.Y13336C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0152631141602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	0	5.502e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.657e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.59	0.53943	T	-3.74	0.71042	D	0.34	0.38129	-0.5802	0.65609	T	0.261	0.63154	T	8	0.23707598	0.40801	T	0.015263	0.35889	T	0.117	0.32689	.	.	0.238096912614	0.23440	0.45698288257662006	0.45616	.	.	0.592661857605	0.51870	T	.	.	.	-0.248269	0.14311	T	-0.41287	0.31894	T	0.778244018554688	0.44941	D	0.851715	0.53598	D	.	.	.	.	.	.	.	.	-10.003	0.73930	D	.	.	0.198	0.42052	B	.	.	0.532885	0.09013	5.798	0.97907316584701476	0.36787	0.03572	0.08784	N	AEFDBI	0.035424	0.04558	N	-0.328040160153745	0.28086	1.546307	-0.624120027502041	0.18874	1.010208	9.73656288565854E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.07	0.609	0.16752	-1.084000	0.03503	.	.	-0.332000	0.05765	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4493:0.0:0.0:0.5507	5.659	0.16934	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2351.43	41	chr19	8892957	.	T	C	2351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.683;DP=877;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=-1.643;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:99:.:.:0,120,1800:.	9	0	1	0
chr19	8896826	8896826	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon43:c.G39466A:p.V13156I	.	428	1093	1	0	0	1	0.000457247	.	.	.	3206720	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.020	.	0.0084	0.00778754	0.0022	0.0223	0.0015	0.0005	0.0003	0.0003	0	0.0004	0.0022121	342	154602	rs142323715	0.0010	0.0010	0.0011	0.0009	0.0269	0.0009	0.0009	0.0254	0.0249	0.0269	0.0020	0.0009	0.0001	5.62e-05	0.0019	0.0002	0.0024	0.0003	0.0073	0.0073	0.0075	0.0072	0.0248	0.0070	0.0068	0.0235	0.0230	0.0248	0	0.0034	0.0020	0.0006	0	0.0034	0.0002	0.0058	0	0.459	0.08762	T	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.05	0.06369	N	0.052	0.02366	-0.9089	0.46989	T	0.002	0.00615	T	8	0.0045438707	0.00094	T	.	.	.	0.020	0.03691	.	.	0.0666544352282	0.05500	0.07506791943052477	0.07442	.	.	0.214643150568	0.01024	T	.	.	.	-0.446748	0.01180	T	-0.879499	0.00658	T	0.00319338679289188	0.00034	T	0.108189	0.00808	T	.	.	.	.	.	.	.	.	-4.217	0.26997	T	.	.	0.072	0.04436	B	.	.	-1.371850	0.00381	0.007	0.13827388158368059	0.00285	0.00148	0.00897	N	AEFBI	0.015171	0.00277	N	-2.07616999955008	0.00144	0.006180012	-2.20809762126666	0.00107	0.00471975	0.109941546180556	0.16620	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.1	-2.19	0.06621	-2.122000	0.01408	.	.	-4.626000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2394:0.3543:0.2117:0.1946	0.651	0.00774	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.005051	0.009511	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1695.43	34	chr19	8896826	.	C	T	1695.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.319;DP=429;ExcessHet=0;FS=1.576;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=2.54;SOR=0.52	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1055	9	0	1	0
chr19	8897503	8897503	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon41:c.G39373A:p.V13125I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00265140438751	0.0005	0.000399361	0.0001	0.0007	0	0.0001	0	0.0001	0	0.0001	0.0001358	21	154602	rs200225844	9.989e-05	9.987e-05	9.666e-05	0.0001	0.0011	8.647e-05	8.135e-05	0.0008	0.0007	0.0011	0	0	5.038e-05	5.618e-05	0.0002	8.455e-05	9.941e-05	4.637e-05	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	6.538e-05	0	0.0002	0	0	1.47e-05	0	0	0.075	0.34444	T	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	1.72	0.26588	T	-0.13	0.08971	N	0.262	0.29659	-1.0356	0.18668	T	0.042	0.17869	T	8	0.026220798	0.00793	T	0.002651	0.05406	T	0.037	0.09474	.	.	0.136095386433	0.13204	0.08302162826342877	0.08237	.	.	0.281300902367	0.07674	T	.	.	.	-0.243732	0.14876	T	-0.58788	0.13850	T	0.0342445273724449	0.02679	T	0.712229	0.32360	T	.	.	.	.	.	.	.	.	-7.294	0.56153	T	.	.	0.096	0.15160	B	.	.	1.442241	0.18620	13.84	0.30759885406050658	0.01699	0.03235	0.08251	N	AEFBI	0.031229	0.03294	N	-0.689652024995524	0.16316	0.8301428	-0.848947398426104	0.13313	0.6899354	8.81344906046729E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.04	-0.194	0.12590	0.075000	0.14547	.	.	0.540000	0.25189	0.023000	0.19925	0.000000	0.08366	0.002000	0.04165	0.0:0.6271:0.0:0.3729	4.282	0.10284	946	0.12043	SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1609.43	51	chr19	8897503	.	C	T	1609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=510;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.598;SOR=0.629	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	515.45	40	chr19	8899972	.	T	C	515.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.927;DP=1142;ExcessHet=0.7463;FS=2.187;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.1;MQRankSum=-13.95;QD=0.81;ReadPosRankSum=-0.363;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,15:196:85:0|1:8899972_T_C:85,0,7534:8899972	7	0	3	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	473.45	40	chr19	8899974	.	G	A	473.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.234;DP=1156;ExcessHet=0.7463;FS=2.163;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.12;MQRankSum=-14.13;QD=0.73;ReadPosRankSum=-0.18;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,15:201:70:0|1:8899972_T_C:70,0,7744:8899972	7	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	421.44	40	chr19	8899979	.	G	T	421.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.2;DP=1185;ExcessHet=0.7463;FS=2.271;InbreedingCoeff=-0.176;MLEAC=3;MLEAF=0.15;MQ=59.14;MQRankSum=-14.64;QD=0.62;ReadPosRankSum=0.317;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,15:217:22:0|1:8899972_T_C:22,0,8437:8899972	7	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	867.56	40	chr19	8900001	.	C	T	867.56	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.397;DP=1750;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2495;MLEAC=4;MLEAF=0.2;MQ=59.02;MQRankSum=-14.38;QD=0.95;ReadPosRankSum=1.8;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,16:232:22:0|1:8900000_C_T:22,0,9022:8900000	6	0	4	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:226,15:241:50:0|1:8900000_C_T:0,50,9475:8900000	3	0	7	0
chr19	8902124	8902124	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.A38644G:p.T12882A	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00130802677798	.	.	0.0011	0.0015	0.0007	0.0003	0.0015	0.0009	0.0011	0.0023	3.84e-05	1	26028	rs748307682	1.372e-06	0.0001	2.729e-06	0	1.802e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.802e-06	0	0	2.018e-05	0.0003	1.314e-05	2.756e-05	0.0002	5.36e-06	2.49e-06	8.23e-06	3.08e-06	4.967e-05	0	0	0	0	0	0	0	0	0.0002	0.039	0.42487	D	0.02	0.58613	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	-1.48	0.36189	N	0.127	0.12055	-1.0275	0.21266	T	0.037	0.15899	T	8	0.02569434	0.00756	T	0.001308	0.01834	T	0.020	0.03691	0.561	0.68093	0.0716867268079	0.06686	0.22195393186857817	0.22110	.	.	0.272835761309	0.06513	T	.	.	.	-0.349911	0.04733	T	-0.740399	0.03874	T	0.04631998853856	0.04842	T	0.285271	0.05070	T	.	.	.	.	.	.	.	.	-8.103	0.61771	D	.	.	0.092	0.13690	B	.	.	-0.298037	0.02627	0.330	0.85565914628400708	0.15973	0.00334	0.01740	N	AEFBI	0.020162	0.00768	N	-1.33487180102627	0.03285	0.1464488	-1.45727964619671	0.02705	0.1248931	1.7085068416542E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	1.92	-1.95	0.07135	-4.214000	0.00310	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.259:0.3885:0.0:0.3525	2.267	0.03831	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	62.43	197	chr19	8902124	.	T	C	62.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=1913;ExcessHet=0;FS=26.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.08;MQRankSum=-12.34;QD=0.32;ReadPosRankSum=1.16;SOR=3.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:247,0:247:99:.:.:0,120,1800:.	9	0	1	0
chr19	8902135	8902135	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.G38633A:p.R12878K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00223406049432	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1375895040	7.526e-06	7.524e-06	2.723e-06	1.238e-05	0.0002	4.04e-06	2.95e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0.0002	5.397e-06	4.969e-05	0	6.564e-06	6.561e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.606	0.05534	T	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.28836	T	-0.22	0.10480	N	0.11	0.09631	-0.9515	0.40712	T	0.064	0.26632	T	8	0.068083465	0.09580	T	0.002234	0.04233	T	0.034	0.08419	0.42	0.46200	0.0986583533028	0.09354	0.258637075761594	0.25777	.	.	0.215941622853	0.01088	T	.	.	.	-0.375955	0.03303	T	-0.714164	0.05083	T	0.0922640338540077	0.11483	T	0.121688	0.00942	T	.	.	.	.	.	.	.	.	-8.931	0.67252	D	.	.	0.113	0.22464	B	.	.	-0.545122	0.01728	0.128	0.53621158834514715	0.04975	0.00221	0.01247	N	AEFBI	0.030353	0.03037	N	-1.3032011885107	0.03639	0.1628907	-1.51130414800331	0.02257	0.1035132	1.0174086819561E-4	0.05123	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	1.92	-3.84	0.03976	-7.875000	0.00036	.	.	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1977:0.2581:0.3923:0.152	1.480	0.02288	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2032.43	214	chr19	8902135	.	C	T	2032.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.22;DP=1933;ExcessHet=0;FS=10.326;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.56;MQRankSum=4.89;QD=9.5;ReadPosRankSum=0.488;SOR=0.613	GT:AD:DP:GQ:PL	0/0:247,0:247:99:0,120,1800	9	0	1	0
chr19	8902149	8902149	A	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.T38619A:p.H12873Q	.	430	1008	83	1	0	85	0.0404569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0008685953051	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs763878122	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0078	0.0002	0.0004	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0014	0.0002	0	0.0005	0.0001	0	0.0003	0	0.0005	0.607	0.05517	T	0.056	0.46632	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.6	0.28604	T	-0.29	0.11728	N	0.102	0.08506	-1.0289	0.20811	T	0.030	0.12804	T	8	0.037195653	0.02060	T	8.69E-4	0.00777	T	0.033	0.08068	0.342	0.33464	0.0611884634855	0.05136	0.14136123866378772	0.14059	.	.	0.244068399072	0.03168	T	.	.	.	-0.348709	0.04808	T	-0.738673	0.03947	T	0.0328181248851721	0.02442	T	0.019898	0.00108	T	.	.	.	.	.	.	.	.	-5.305	0.39993	T	.	.	0.118	0.24088	B	.	.	-1.387499	0.00369	0.007	0.27685392094022832	0.01386	0.00136	0.00836	N	AEFBI	0.019284	0.00656	N	-1.77835524694418	0.00600	0.02586545	-1.89270376065956	0.00506	0.022424	1.56527611817999E-4	0.05650	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	1.74	-3.49	0.04424	-7.806000	0.00038	.	.	-2.013000	0.00440	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2555:0.1984:0.1534:0.3928	0.264	0.00206	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	179.43	247	chr19	8902149	.	A	T	179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.633;DP=2785;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.7;MQRankSum=-10.1;QD=0.81;ReadPosRankSum=-2.871;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:311,0:311:99:.:.:0,120,1800:.	9	0	1	0
chr19	8902156	8902156	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon34:c.A38612C:p.D12871A	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00357473049568	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796235811	2.749e-06	0.0004	2.736e-06	2.763e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.801e-06	1.663e-05	0	0.0003	0.0079	0.0002	0.0005	0.0007	0.0002	0.0002	0.0002	0.0002	0.0004	0	0.0002	0	0.0007	0.0001	0	0.0003	0	0.0005	0.006	0.61437	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.44	0.56609	T	-2.2	0.49519	N	0.169	0.17966	-0.9350	0.43394	T	0.113	0.40422	T	8	0.06955856	0.09996	T	0.003575	0.08154	T	0.088	0.25558	.	.	0.130388298395	0.12655	0.41753436348199285	0.41669	.	.	0.351333498955	0.18118	T	.	.	.	-0.136654	0.30423	T	-0.434071	0.29475	T	0.159036123118717	0.17800	T	0.0969903	0.00718	T	.	.	.	.	.	.	.	.	-9.51	0.70921	D	.	.	0.156	0.34427	B	.	.	0.663459	0.10320	7.049	0.72664277129859833	0.10052	0.03658	0.08916	N	AEFBI	0.025685	0.01801	N	-1.34071273102934	0.03222	0.1435622	-1.5030359029776	0.02321	0.1065499	5.23920445838216E-5	0.04171	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	2.07	-3.17	0.04882	-0.020000	0.12466	.	.	-1.068000	0.01600	0.064000	0.21895	0.000000	0.08366	0.001000	0.02609	0.2051:0.3044:0.208:0.2826	0.411	0.00411	934	0.15400	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	182.43	247	chr19	8902156	.	T	G	182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.087;DP=2865;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.33;MQRankSum=-6.506;QD=0.83;ReadPosRankSum=-2.692;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:315,0:315:99:.:.:0,120,1800:.	9	0	1	0
chr19	8906310	8906310	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.G38009C:p.S12670T	.	426	1063	32	1	0	34	0.0157407	.	.	YES	2752290	Ovarian_cancer	MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	0.053	0.00246779091888	.	0.000199681	1.681e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs565425582	1.644e-05	2.941e-05	1.772e-05	1.514e-05	2.52e-05	1.112e-05	9.34e-06	1.296e-05	1.107e-05	0	2.242e-05	0	2.52e-05	0	0	1.98e-05	0	0	4.176e-05	0.0026	5.432e-05	2.855e-05	0.0001	1.799e-05	1.184e-05	3.51e-05	2.123e-05	0.0001	0	0	0	0	0	0	3.066e-05	0	0	1.0	0.00964	T	0.139	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.57	0.01917	T	1.25	0.01011	N	0.113	0.10056	-0.9100	0.46854	T	0.002	0.00676	T	8	0.033523023	0.01532	T	0.002468	0.04896	T	0.053	0.14996	0.176	0.08257	0.0297737177859	0.01360	0.07544984530033015	0.07480	.	.	0.284053891897	0.08063	T	.	.	.	-0.547718	0.00301	T	-0.842388	0.01063	T	0.0276999553474265	0.01645	T	0.143886	0.01170	T	.	.	.	.	.	.	.	.	-0.597	0.00646	T	.	.	0.062	0.01215	B	.	.	0.261277	0.06395	2.864	0.32924370785203677	0.01934	0.00006	0.00120	N	AEFBI	0.008428	0.00039	N	-1.59481043750724	0.01290	0.05618882	-1.61343246278626	0.01576	0.07143936	1.53118084225164E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-1.23	0.08977	-0.346000	0.07809	.	.	-1.191000	0.01374	0.001000	0.13787	0.000000	0.08366	0.091000	0.17840	0.1779:0.2378:0.3437:0.2407	0.617	0.00722	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	38.43	113	chr19	8906310	.	C	G	38.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=554;ExcessHet=0;FS=2.904;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.81;MQRankSum=-11.47;QD=0.29;ReadPosRankSum=-3.688;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1300:.	9	0	1	0
chr19	8906323	8906323	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.C37996T:p.P12666S	.	428	1055	38	1	0	40	0.0186047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00247585488613	.	.	1.687e-05	0.0001	8.658e-05	0	0	0	0	0	1.29e-05	2	154602	rs762490369	1.713e-05	5.336e-05	1.772e-05	1.653e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.245e-05	0	2.52e-05	0	0	2.071e-05	0	0	4.24e-05	0.0059	4.138e-05	4.346e-05	0.0001	1.822e-05	1.199e-05	3.556e-05	2.154e-05	0.0001	0	0	0	0	0	0	3.104e-05	0	0	0.261	0.16520	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.52	0.01997	T	0.2	0.04861	N	0.092	0.07125	-0.9233	0.45098	T	0.002	0.00676	T	8	0.057982862	0.06746	T	0.002476	0.04896	T	0.027	0.05988	0.184	0.09259	0.0297737177859	0.01360	0.08237352206848209	0.08172	.	.	0.263990014791	0.05375	T	.	.	.	-0.536376	0.00352	T	-0.839115	0.01112	T	0.0242580187876096	0.01178	T	0.180682	0.01803	T	.	.	.	.	.	.	.	.	0.883	0.00148	T	.	.	0.076	0.06069	B	.	.	0.362648	0.07355	3.971	0.31856550423288121	0.01817	0.00006	0.00120	N	AEFBI	0.009687	0.00059	N	-1.5920726816332	0.01304	0.05680634	-1.57521878403105	0.01808	0.08232029	9.67824463248396E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	0.419	0.15657	-0.191000	0.09598	.	.	-0.953000	0.02023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.562:0.0:0.438:0.0	4.268	0.10218	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	53.43	139	chr19	8906323	.	G	A	53.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.871;DP=787;ExcessHet=0;FS=2.558;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.03;MQRankSum=-11.73;QD=0.37;ReadPosRankSum=-1.767;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1300:.	9	0	1	0
chr19	8906325	8906325	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37994G:p.I12665S	.	429	1045	47	1	0	49	0.0229079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0038760848155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs759086518	0	3.625e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.251e-05	0.0063	4.15e-05	4.357e-05	0.0002	1.826e-05	1.202e-05	3.56e-05	2.156e-05	0.0001	0	0	0	0.0002	0	0	1.556e-05	0	0	0.826	0.02913	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	0.44	0.03243	N	0.074	0.04790	-0.8304	0.53276	T	0.002	0.00738	T	8	0.04098645	0.02714	T	0.003876	0.09086	T	0.018	0.03083	0.31	0.28289	0.170165803431	0.16609	0.11517879774076815	0.11445	.	.	0.232001110911	0.02120	T	.	.	.	-0.408333	0.02040	T	-0.824318	0.01367	T	0.0416706942861189	0.03995	T	0.152385	0.01298	T	.	.	.	.	.	.	.	.	0.068	0.00326	T	.	.	0.085	0.10400	B	.	.	-0.401111	0.02208	0.221	0.45356006519564063	0.03554	0.00037	0.00318	N	AEFBI	0.009398	0.00054	N	-2.70207499388071	0.00005	0.0002332206	-2.71802947991178	0.00007	0.000320448	0.0912899574800445	0.16130	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-5.644000	0.00129	.	.	-4.429000	0.00030	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1528:0.3792:0.4679:0.0	7.234	0.25234	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	53.49	142	chr19	8906325	.	A	C	53.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.681;DP=794;ExcessHet=0;FS=2.542;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.05;MQ=59.01;MQRankSum=-11.86;QD=0.37;ReadPosRankSum=-1.469;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1300:.	9	0	1	0
chr19	8906329	8906329	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon27:c.T37990C:p.W12664R	.	426	1037	58	1	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00123485330843	.	.	1.69e-05	0.0001	8.66e-05	0	0	0	0	0	3.84e-05	1	26028	rs752664873	1.713e-05	7.251e-05	1.909e-05	1.516e-05	2.52e-05	1.176e-05	9.94e-06	1.379e-05	1.152e-05	0	2.246e-05	0	2.52e-05	0	0	2.071e-05	0	0	9.122e-05	0.0074	9.589e-05	8.632e-05	0.0002	5.38e-05	4.211e-05	6.784e-05	4.563e-05	0.0002	0	0	0	0.0002	0.0001	0	7.725e-05	0	0	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	1.73	0.00557	N	0.164	0.17278	-1.0123	0.26196	T	0.021	0.08917	T	8	0.05845517	0.06874	T	0.001235	0.01633	T	0.022	0.04323	0.511	0.60846	0.0666544352282	0.05500	0.12290162140986033	0.12216	.	.	0.17153711617	0.00038	T	.	.	.	-0.364945	0.03858	T	-0.761995	0.03041	T	0.0350373052446737	0.02814	T	0.0657934	0.00479	T	.	.	.	.	.	.	.	.	0.629	0.00188	T	.	.	0.081	0.08417	B	.	.	0.120328	0.05179	1.696	0.50828146212189185	0.04453	0.00012	0.00170	N	AEFBI	0.011720	0.00110	N	-2.20480432650005	0.00075	0.003199722	-2.24327977203405	0.00089	0.003930338	8.9415780060643E-4	0.07974	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	1.48	-2.96	0.05212	-1.082000	0.03510	.	.	-6.395000	0.00004	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5741:0.0:0.2467:0.1792	4.013	0.09120	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	137.43	138	chr19	8906329	.	A	G	137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.765;DP=797;ExcessHet=0;FS=1.814;InbreedingCoeff=-0.053;MLEAC=1;MLEAF=0.05;MQ=58.87;MQRankSum=-11.86;QD=0.95;ReadPosRankSum=-0.988;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,100,1300:.	9	0	1	0
chr19	8908599	8908599	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.A37612G:p.T12538A	.	429	1090	3	0	0	3	0.00137426	0	0.03	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00112796486292	.	.	.	.	.	.	.	.	.	.	0.00073	19	26028	rs1292275692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.331e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.69	0.27032	T	-0.45	0.14782	N	0.116	0.10483	-0.9581	0.39534	T	0.019	0.07753	T	7	0.071532875	0.10556	T	0.001128	0.01385	T	0.016	0.02506	0.249	0.18602	0.0297737177859	0.01360	0.08480375160435995	0.08414	.	.	0.244860142469	0.03246	T	.	.	.	-0.374715	0.03362	T	-0.776029	0.02575	T	0.0510332249104977	0.05680	T	0.138886	0.01109	T	.	.	.	.	.	.	.	.	-5.524	0.42092	T	.	.	0.069	0.02993	B	.	.	0.253012	0.06321	2.781	0.42206208933571693	0.03095	0.00009	0.00143	N	AEFBI	0.011238	0.00095	N	-1.58080858776645	0.01363	0.05940262	-1.61877208500018	0.01545	0.07001183	9.87328335879298E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.03	0.09586	0.325000	0.19374	.	.	-0.528000	0.04966	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.7516:0.0:0.2484	4.299	0.10357	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	84.17	199	chr19	8908599	.	T	C	84.17	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.29;DP=1746;ExcessHet=0.2348;FS=31.552;InbreedingCoeff=-0.1956;MLEAC=2;MLEAF=0.143;MQ=59.35;MQRankSum=-7.493;QD=0.3;ReadPosRankSum=1.16;SOR=6.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:144,0:144:99:.:.:0,120,1800:.	5	0	2	3
chr19	8908602	8908602	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37609A:p.A12537T	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00131490758785	.	.	4.182e-05	0.0001	0	0.0001	0	1.508e-05	0	0.0001	0.0001552	24	154602	rs138748436	4.107e-05	4.104e-05	3.95e-05	4.266e-05	0.0004	3.247e-05	2.921e-05	0.0003	0.0002	0.0004	0	0	0.0001	0	0.0002	3.24e-05	3.316e-05	2.32e-05	0.0001	0.0001	0.0002	5.568e-05	0.0003	7.282e-05	6.004e-05	0.0002	0.0002	0.0003	0	6.974e-05	0	0	0	0	4.448e-05	0	0	0.545	0.06691	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.39	0.33842	T	0.37	0.03639	N	0.078	0.05287	-1.0434	0.16294	T	0.040	0.17404	T	8	0.03682396	0.02000	T	0.001315	0.01834	T	0.025	0.05312	.	.	0.0297737177859	0.01360	0.061949370351122544	0.06134	.	.	0.279441058636	0.07415	T	.	.	.	-0.624425	0.00103	T	-0.804718	0.01787	T	0.00817964850258335	0.00098	T	0.242476	0.03503	T	.	.	.	.	.	.	.	.	1.346	0.00095	T	.	.	0.065	0.01834	B	.	.	0.570840	0.09394	6.173	0.33756429216317418	0.02028	0.00011	0.00159	N	AEFBI	0.008518	0.00040	N	-1.36706097997437	0.02952	0.131134	-1.41654224597646	0.03086	0.1432886	1.09906045987142E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	0.018000	0.13315	.	.	-0.524000	0.04973	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.0:0.238:0.0:0.762	3.410	0.06930	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	93.24	200	chr19	8908602	.	C	T	93.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.62;DP=1748;ExcessHet=0.2348;FS=31.645;InbreedingCoeff=-0.2022;MLEAC=2;MLEAF=0.143;MQ=59.35;MQRankSum=-7.464;QD=0.33;ReadPosRankSum=1.36;SOR=6.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:144,0:144:99:.:.:0,120,1800:.	5	0	2	3
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	880.23	222	chr19	8908637	.	C	G	880.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.15;DP=1758;ExcessHet=2.8389;FS=21.496;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=58.66;MQRankSum=-8.787;QD=0.95;ReadPosRankSum=0.427;SOR=3.3	GT:AD:DP:GQ:PL	0/1:164,21:185:99:388,0,6783	4	0	5	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	871.27	217	chr19	8908644	.	C	G	871.27	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.73;DP=1791;ExcessHet=2.8389;FS=21.084;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.278;MQ=58.43;MQRankSum=-8.048;QD=0.95;ReadPosRankSum=0.948;SOR=3.012	GT:AD:DP:GQ:PL	0/1:162,21:183:99:394,0,6684	4	0	5	1
chr19	8913794	8913794	-	TGGTATG	exonic	MUC16	.	frameshift insertion	MUC16:NM_024690:exon17:c.37062_37063insCATACCA:p.T12355Hfs*96	.	418	1097	7	0	0	7	0.00318037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1408023747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	109.39	133	chr19	8913794	.	T	TTGGTATG	109.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.68;DP=951;ExcessHet=0;FS=1.083;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.14;MQRankSum=-10.77;QD=0.71;ReadPosRankSum=0.629;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,118,1800:.	9	0	1	0
chr19	8913797	8913803	ACACAGA	-	exonic	MUC16	.	frameshift deletion	MUC16:NM_024690:exon17:c.37054_37060del:p.S12352Pfs*89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs1327054083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	85.39	133	chr19	8913796	.	GACACAGA	G	85.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.033;DP=959;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.23;MQRankSum=-11.07;QD=0.53;ReadPosRankSum=1.11;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,118,1800:.	9	0	1	0
chr19	8913808	8913808	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon17:c.A37049G:p.Q12350R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00242608576165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs759620819	4.789e-06	5.472e-06	4.084e-06	5.502e-06	2.236e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.397e-06	0	0	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.132	0.26519	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	0.33	0.03889	N	0.086	0.06322	-0.9020	0.47782	T	0.004	0.01226	T	8	0.039474815	0.02440	T	0.002426	0.04757	T	0.029	0.06676	0.199	0.11247	0.0138822411134	0.00435	0.12891028179309774	0.12816	.	.	0.163704261184	0.00015	T	.	.	.	-0.461877	0.00957	T	-0.818366	0.01486	T	0.101391582637809	0.12509	T	0.0669933	0.00488	T	.	.	.	.	.	.	.	.	-0.541	0.00609	T	.	.	0.059	0.00793	B	.	.	-0.294309	0.02643	0.335	0.15538801178461156	0.00384	0.00338	0.01756	N	AEFBI	0.021699	0.00995	N	-2.14677206213676	0.00101	0.004315622	-2.20892277407453	0.00107	0.004697573	0.00161392486598595	0.08707	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-5.35	0.02488	-1.054000	0.03607	.	.	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.489:0.0:0.511	9.540	0.38411	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	133.43	146	chr19	8913808	.	T	C	133.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.503;DP=1055;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.21;MQRankSum=-11.1;QD=0.83;ReadPosRankSum=0.334;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,118,1800:.	9	0	1	0
chr19	8913809	8913809	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon17:c.C37048T:p.Q12350X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343794696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.647	0.65844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	Low	9.825524	0.99351	43	0.91393941691125624	0.20660	0.01948	0.05923	N	AEFBI	0.019628	0.00699	N	-0.0950171539886091	0.37610	2.190638	-0.572942064464123	0.20199	1.087212	7.90230937884117E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.68	-4.17	0.03595	0.024000	0.13447	.	.	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1432:0.1948:0.2692:0.3929	0.906	0.01203	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	130.43	146	chr19	8913809	.	G	A	130.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.497;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.22;MQRankSum=-11.14;QD=0.81;ReadPosRankSum=0.376;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,118,1800:.	9	0	1	0
chr19	8939543	8939543	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon5:c.G31412A:p.R10471K	.	434	1080	8	0	0	8	0.00369004	.	.	.	2815404	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.010	0.00218904695316	0.0052	0.00319489	0.0052	0.0010	0.0048	0	0.0086	0.0068	0.0069	0.0018	0.0048188	745	154602	rs147543535	0.0066	0.0066	0.0067	0.0064	0.0071	0.0065	0.0064	0.0069	0.0069	0.0009	0.0047	0.0169	0	0.0088	0.0009	0.0071	0.0067	0.0019	0.0050	0.0050	0.0051	0.0048	0.0063	0.0047	0.0046	0.0058	0.0057	0.0014	0.0099	0.0054	0.0202	0	0.0072	0.0034	0.0063	0.0090	0.0015	0.0	0.91255	D	0.089	0.40426	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.24	0.02590	T	-0.92	0.24676	N	0.073	0.04668	-0.9982	0.30423	T	0.006	0.02206	T	8	0.0044139028	0.00090	T	0.002189	0.04124	T	0.010	0.01040	.	.	0.0806252709748	0.07271	0.20082274769980346	0.19999	.	.	0.241119429469	0.02892	T	.	.	.	-0.668193	0.00056	T	-0.728164	0.04410	T	0.0099043597099172	0.00131	T	0.211379	0.02567	T	.	.	.	.	.	.	.	.	-3.465	0.15945	T	.	.	0.140	0.30582	B	.	.	0.589568	0.09582	6.355	0.52587376443082878	0.04776	0.01091	0.04015	N	AEFBI	0.019632	0.00699	N	-1.00990654510154	0.08397	0.3935977	-1.10968312981351	0.07514	0.3658214	1.4237924925357E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	-0.807	0.10323	0.074000	0.14525	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.0:0.4488:0.0:0.5512	6.564	0.21697	923	0.18507	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.002924	0.000000	0.008621	0.003049	0.000000	0.05	1102.43	39	chr19	8939543	.	C	T	1102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.443;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.07;ReadPosRankSum=1.31;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1187	9	0	1	0
chr19	8952999	8952999	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23771T:p.T7924M	.	419	1095	7	1	0	9	0.00409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00131915574947	0.0002	.	0.0004	0	0.0009	0	0.0002	0.0004	0	0.0002	0.000304	47	154602	rs201509856	0.0003	0.0003	0.0003	0.0003	0.0059	0.0003	0.0002	0.0043	0.0038	0.0002	0.0010	0	0	1.873e-05	0.0059	0.0002	0.0007	0.0001	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0002	4.813e-05	0	0.0005	0	0.0002	0	0.0034	0.0004	0.0005	0.0004	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.56	0.29602	T	-1.11	0.28703	N	0.083	0.05929	-0.9042	0.47538	T	0.079	0.31466	T	8	0.028915823	0.01021	T	0.001319	0.01860	T	0.059	0.16972	.	.	0.290590437066	0.28656	0.0859577918344541	0.08529	.	.	0.188898384571	0.00206	T	.	.	.	-0.587777	0.00173	T	-0.662629	0.08089	T	0.0287179128233308	0.01795	T	0.319468	0.06419	T	.	.	.	.	.	.	.	.	-5.587	0.42674	T	.	.	0.084	0.09772	B	.	.	0.878587	0.12517	9.047	0.38050217989944235	0.02543	0.01884	0.05793	N	AEFBI	0.015952	0.00330	N	-0.350549341603676	0.27251	1.493698	-0.569674404847815	0.20285	1.092233	9.75075109686685E-4	0.08079	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.34	2.34	0.28071	0.580000	0.23505	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	8.242	0.30827	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.005051	0.009511	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	2427.43	134	chr19	8952999	.	G	A	2427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.45;DP=1211;ExcessHet=0;FS=3.239;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.074;SOR=0.501	GT:AD:DP:GQ:PL	0/0:110,0:110:99:0,120,1800	9	0	1	0
chr19	8958661	8958661	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.G18109A:p.G6037R	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000579492234173	.	.	4.974e-05	0	0	0	0	2.999e-05	0	0.0002	3.88e-05	6	154602	rs771448044	4.995e-05	4.994e-05	4.22e-05	5.777e-05	0.0003	4.059e-05	3.734e-05	0.0002	0.0002	8.962e-05	2.237e-05	0	2.52e-05	0	0.0002	3.508e-05	8.282e-05	0.0003	4.6e-05	4.594e-05	2.572e-05	6.721e-05	0.0008	2.11e-05	1.527e-05	0.0003	0.0002	2.408e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0008	0.01	0.56456	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.94	0.22678	T	-1.26	0.31778	N	0.073	0.04668	-1.0279	0.21136	T	0.023	0.09923	T	8	0.05082473	0.04872	T	5.79E-4	0.00246	T	0.024	0.04979	0.182	0.09004	0.0884992946249	0.08302	0.037956854412596115	0.03741	.	.	0.181066870689	0.00104	T	.	.	.	-0.494026	0.00618	T	-0.687732	0.06521	T	0.0186468182197877	0.00578	T	0.267673	0.04439	T	.	.	.	.	.	.	.	.	-2.113	0.03640	T	.	.	0.074	0.05231	B	.	.	0.254544	0.06335	2.796	0.17751909371551683	0.00530	0.00075	0.00520	N	AEFGBI	0.013440	0.00178	N	-1.63652966738656	0.01093	0.04744405	-1.72245048183275	0.01042	0.04673543	0.00168891622618524	0.08780	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.22	-2.44	0.06126	-0.995000	0.03823	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6308:0.0:0.3692	6.293	0.20279	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2102.43	99	chr19	8958661	.	C	T	2102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.6;DP=1133;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=0.6;SOR=0.676	GT:AD:DP:GQ:PL	0/0:108,0:108:99:0,120,1800	9	0	1	0
chr19	8973725	8973725	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G7414A:p.V2472I	.	428	1093	1	0	0	1	0.000457247	.	.	.	2811533	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.000999084052726	0.0054	0.00179712	0.0053	0.0014	0.0038	0	0.0064	0.0080	0.0078	6.131e-05	0.0052522	812	154602	rs142278154	0.0073	0.0073	0.0075	0.0071	0.0087	0.0072	0.0071	0.0086	0.0085	0.0010	0.0040	0.0003	0	0.0068	0.0014	0.0087	0.0055	0.0002	0.0055	0.0055	0.0057	0.0053	0.0094	0.0052	0.0051	0.0088	0.0086	0.0012	0.0011	0.0046	0	0	0.0059	0.0034	0.0094	0.0057	0.0002	0.0	0.91255	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.3	0.02437	T	-0.24	0.10833	N	0.036	0.01068	-0.9273	0.44530	T	0.006	0.02055	T	7	0.004289329	0.00086	T	9.99E-4	0.01073	T	0.038	0.09825	.	.	0.136095386433	0.13204	0.06460640882461109	0.06399	.	.	0.424237787724	0.28420	T	.	.	.	-0.691843	0.00041	T	-0.75553	0.03275	T	0.042550897210317	0.04156	T	0.246775	0.03632	T	.	.	.	.	.	.	.	.	-4.129	0.25716	T	.	.	0.114	0.22825	B	.	.	0.373315	0.07453	4.091	0.62577137540306527	0.06998	0.00042	0.00346	N	AEFDGBHCI	0.018746	0.00592	N	-0.773409634749327	0.14005	0.6942353	-0.987013381913116	0.10076	0.5052477	0.0029268178305843	0.09804	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.225	0.225	0.14598	0.470000	0.21795	.	.	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	3414.43	116	chr19	8973725	.	C	T	3414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.759;DP=1339;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.752;SOR=0.724	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	9	0	1	0
chr19	8974738	8974738	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.C6401T:p.T2134I	.	.	.	.	.	.	.	.	.	.	.	2811534	MUC16-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.091	0.00124070720829	0.0032	0.00139776	0.0034	0.0009	0.0024	0	0.0056	0.0050	0.0056	6.057e-05	0.0034282	530	154602	rs183496438	0.0050	0.0050	0.0052	0.0049	0.0060	0.0049	0.0049	0.0059	0.0059	0.0006	0.0020	0.0003	0	0.0057	0.0003	0.0060	0.0038	0.0001	0.0041	0.0040	0.0040	0.0041	0.0070	0.0038	0.0037	0.0064	0.0062	0.0008	0.0011	0.0027	0	0	0.0056	0	0.0070	0.0033	0	0.0	0.91255	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.28	0.02487	T	-1.44	0.35399	N	0.029	0.00666	-0.9231	0.45126	T	0.008	0.02842	T	7	0.0044414103	0.00091	T	0.001241	0.01658	T	0.091	0.26358	.	.	0.101711395817	0.09552	0.10168362463982893	0.10099	.	.	0.490618556738	0.37525	T	.	.	.	-0.513247	0.00481	T	-0.502059	0.22134	T	0.0273807779103841	0.01599	T	0.237776	0.03353	T	.	.	.	.	.	.	.	.	-4.351	0.28886	T	.	.	0.183	0.39681	B	.	.	0.496615	0.08656	5.428	0.28931227529973647	0.01510	0.00657	0.02850	N	AEFGBI	0.023592	0.01336	N	-0.594606807413959	0.19107	0.9974567	-0.853523037627541	0.13203	0.683643	4.16915037276686E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	0.796000	0.26646	.	.	0.373000	0.20310	0.008000	0.17931	0.021000	0.20819	0.059000	0.15899	.	.	.	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2036.43	116	chr19	8974738	.	G	A	2036.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.837;DP=1117;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.384;SOR=0.7	GT:AD:DP:GQ:PL	0/0:128,0:128:99:0,120,1800	9	0	1	0
chr19	8975176	8975176	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.A5963C:p.H1988P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.00113401747389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.109	0.37449	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.23	0.02616	T	-2.41	0.52938	N	0.198	0.21839	-0.9058	0.47355	T	0.004	0.01295	T	7	0.066522956	0.09136	T	0.001134	0.01385	T	0.110	0.31079	0.104	0.01698	0.0806252709748	0.07271	0.04058596522819306	0.04004	.	.	0.340788960457	0.16556	T	.	.	.	-0.206037	0.19940	T	-0.533734	0.18916	T	0.144465987361972	0.16653	T	0.171083	0.01625	T	.	.	.	.	.	.	.	.	-2.408	0.05182	T	.	.	0.139	0.30423	B	.	.	0.755727	0.11254	7.883	0.19440033369117385	0.00656	0.00977	0.03727	N	AEFDBI	0.053340	0.09602	N	-0.888664294137666	0.11112	0.5344758	-1.02673881565049	0.09199	0.4563462	6.83989850364727E-4	0.07622	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.235	0.235	0.14697	-0.143000	0.10278	.	.	0.366000	0.20181	0.000000	0.06391	0.000000	0.08366	0.740000	0.35438	.	.	.	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2629.43	116	chr19	8975176	.	T	G	2629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=1279;ExcessHet=0;FS=0.974;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=-1.139;SOR=0.789	GT:AD:DP:GQ:PL	0/1:146,107:253:99:2641,0,3670	9	0	1	0
chr19	8975467	8975467	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G5672A:p.S1891N	.	434	1069	19	0	0	19	0.00880853	.	.	.	3208423	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.074	0.00179810945064	0.0027	0.00199681	0.0043	0.0013	0.0014	0	0.0095	0.0057	0.0011	0.0025	0.0039909	617	154602	rs138381516	0.0041	0.0041	0.0041	0.0042	0.0044	0.0041	0.0040	0.0043	0.0042	0.0005	0.0016	0.0050	0	0.0101	0.0024	0.0044	0.0037	0.0023	0.0035	0.0035	0.0033	0.0037	0.0044	0.0032	0.0031	0.0040	0.0038	0.0006	0	0.0044	0.0032	0	0.0107	0.0068	0.0044	0.0028	0.0017	0.0	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.21	0.02664	T	-0.72	0.20358	N	0.029	0.00666	-0.9098	0.46879	T	0.006	0.02018	T	7	0.0061928034	0.00139	T	0.001798	0.03089	T	0.074	0.21613	.	.	0.0954503805726	0.09146	0.0777041636419737	0.07706	.	.	0.255685806274	0.04390	T	.	.	.	-0.707094	0.00033	T	-0.787102	0.02246	T	0.0210152579785477	0.00802	T	0.206179	0.02447	T	.	.	.	.	.	.	.	.	-4.977	0.36589	T	.	.	0.262	0.49673	B	.	.	0.132691	0.05280	1.777	0.45457973557953463	0.03569	0.00122	0.00764	N	AEFBI	0.019231	0.00649	N	-0.755817455938322	0.14476	0.7213874	-0.992618378551014	0.09950	0.4981169	9.78190115938903E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.225	0.225	0.14598	-0.501000	0.06479	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	.	.	.	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1006.43	137	chr19	8975467	.	C	T	1006.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.042;DP=1211;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=0.029;SOR=0.777	GT:AD:DP:GQ:PL	0/0:119,0:119:99:0,120,1800	9	0	1	0
chr19	9093854	9093854	G	A	exonic	OR1M1	.	nonsynonymous SNV	OR1M1:NM_001004456:exon1:c.G610A:p.G204R	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00622908793777	.	.	0.0002	0	0	0	0.0002	0.0002	0.0011	0.0002	0.0001552	24	154602	rs199800381	0.0001	0.0001	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	5.974e-05	2.236e-05	0.0026	0	1.875e-05	0.0003	8.723e-05	0.0003	0.0002	0.0001	0.0001	0.0001	8.07e-05	0.0002	6.511e-05	5.322e-05	1.972e-05	1.124e-05	2.412e-05	0	6.549e-05	0.0026	0	0	0	5.879e-05	0	0.0002	0.012	0.54683	D	0.032	0.53426	D	1.0	0.90584	D	0.99	0.78936	D	0.000769	0.41888	D	0.106084	1	0.08975	N	2.575	0.75298	M	1.14	0.38397	T	-4.85	0.81107	D	0.144	0.14480	-0.9186	0.45743	T	0.193	0.54535	T	10	0.054546326	0.05823	T	0.006229	0.16347	T	0.228	0.52768	0.828	0.93851	0.413503789086	0.40968	0.41813801677769197	0.41729	0.19754653574	0.22128	0.21161210537	0.00881	T	0.022994	0.17632	T	-0.312938	0.07491	T	-0.412991	0.31879	T	0.232299303024359	0.22060	T	0.20418	0.02377	T	0.33885804	0.56189	0.23945656	0.49295	0.33885804	0.56189	0.23945656	0.49294	-9.254	0.69318	D	.	.	0.617	0.69583	P	.;.	.;.	1.996753	0.25370	16.74	0.99351054911950598	0.60574	0.00996	0.03776	N	AEFBI	0.031637	0.03423	N	-0.228864113813338	0.31953	1.797015	-0.549841391674191	0.20810	1.122921	1.78817032685594E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.8	0.329	0.15164	-3.280000	0.00585	.	.	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.2075:0.1754:0.4372:0.1798	1.146	0.01666	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.05	4331.43	37	chr19	9093854	.	G	A	4331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=648;ExcessHet=0;FS=2.536;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=2.54;SOR=0.864	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr19	9126601	9126601	A	T	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.T350A:p.M117K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00235854071747	.	0.000599042	0.0003	9.61e-05	0	0	0	0	0	0.0021	0.0002652	41	154602	rs530415844	0.0001	0.0001	7.895e-05	0.0002	0.0019	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0.0005	1.529e-05	0.0001	0.0019	6.567e-05	6.562e-05	2.57e-05	0.0001	0.0021	3.515e-05	2.615e-05	0.0011	0.0009	0	0	0	0	0	0	0	0	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.32	0.32998	B	0.045	0.24526	B	0.090127	0.20391	U	0.350596	1	0.08975	N	1.845	0.48678	L	4.08	0.03003	T	-2.51	0.54546	D	0.409	0.44952	-1.0046	0.28577	T	0.009	0.03403	T	10	0.018099695	0.00391	T	0.002359	0.04590	T	0.104	0.29647	0.518	0.61915	0.195762928549	0.19159	0.44183708574283975	0.44100	0.137836223077	0.15542	0.217940568924	0.01194	T	0.01383	0.11891	T	-0.472854	0.00816	T	-0.457547	0.26868	T	0.0765630749412029	0.09542	T	0.920508	0.71260	D	0.9285215	0.94089	0.83281976	0.90369	0.9285215	0.94090	0.83281976	0.90369	-7.348	0.56536	T	.	.	0.290	0.52210	B	.	.	1.769411	0.22502	15.65	0.72284575861056688	0.09920	0.11947	0.16963	N	AEFBI	0.067119	0.13179	N	-1.07358739207392	0.07133	0.3304537	-1.19577202690455	0.05980	0.2865036	2.91341718143256E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.96	-2.01	0.07003	0.339000	0.19617	.	.	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.5693:0.0:0.4307:0.0	9.491	0.38125	976	0.04745	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2164.43	36	chr19	9126601	.	A	T	2164.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.83;DP=781;ExcessHet=0;FS=4.46;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.501;SOR=1.041	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr19	9126862	9126862	A	G	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.T89C:p.L30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.00615011496865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.924	0.51285	P	0.413	0.44885	B	0.940681	0.08356	U	0.955333	0.999611	0.47849	D	1.985	0.53793	M	2.26	0.17596	T	-4.7	0.79829	D	0.551	0.57690	-0.9424	0.42234	T	0.081	0.32031	T	10	0.89328647	0.88677	D	0.00615	0.16111	T	0.243	0.54921	0.618	0.75232	0.225215365344	0.22153	0.597788184579124	0.59709	0.140614320253	0.15858	0.264840036631	0.05481	T	0.040883	0.25675	T	-0.0912216	0.37876	T	-0.36881	0.37028	T	0.980639755725861	0.73466	D	0.486851	0.14885	T	0.8658379	0.88535	0.80879086	0.88824	0.8658379	0.88537	0.80879086	0.88824	-10.135	0.74716	D	.	.	0.183	0.39765	B	.	.	1.965188	0.24961	16.59	0.98749675460518138	0.45633	0.41510	0.26673	N	AEFDBI	0.199798	0.32657	N	-0.0544483382949705	0.39404	2.323158	-0.241758644519134	0.30056	1.689058	0.667303414536461	0.22336	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.02	4.02	0.45968	3.389000	0.52255	.	.	0.629000	0.51854	0.046000	0.21249	0.660000	0.26011	0.411000	0.27028	1.0:0.0:0.0:0.0	12.258	0.53949	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1436.43	36	chr19	9126862	.	A	G	1436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.737;DP=915;ExcessHet=0;FS=3.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.719;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr19	9186245	9186245	C	T	exonic	OR7D2	.	nonsynonymous SNV	OR7D2:NM_175883:exon1:c.C464T:p.T155I	.	.	.	.	.	.	.	.	.	.	.	3570790	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.000639121609213	.	.	1.648e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs746042979	9.577e-06	9.577e-06	1.225e-05	6.875e-06	0.0004	5.56e-06	4.35e-06	0.0002	0.0002	0	0	0	0.0004	0	0	0	0	0	6.57e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.374	0.11406	T	0.384	0.15794	T	0.0	0.02946	B	0.004	0.10090	B	0.781946	0.09464	N	0.851711	1	0.08975	N	-0.075	0.04822	N	1.35	0.34648	T	-1.2	0.30555	N	0.079	0.05414	-1.0414	0.16890	T	0.033	0.13986	T	10	0.035771668	0.01842	T	6.39E-4	0.00334	T	0.007	0.00512	0.357	0.35897	0.192905019026	0.18896	.	.	0.0724221476597	0.08119	0.245019584894	0.03261	T	0.032862	0.22669	T	-0.585499	0.00178	T	-0.778482	0.02500	T	0.0222593999542051	0.00939	T	0.0821918	0.00603	T	0.06542294	0.13980	0.054926995	0.09540	0.06542294	0.13979	0.054926995	0.09539	-3.426	0.15408	T	.	.	0.09	0.12607	B	.;.;.	.;.;.	0.070835	0.04792	1.404	0.14059084153967302	0.00297	0.01220	0.04328	N	AEFBI	0.027082	0.02148	N	-1.61701867512621	0.01182	0.05138053	-1.7094324417471	0.01096	0.04924888	7.89036249435932E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.21	-4.43	0.03319	-3.478000	0.00509	.	.	-0.286000	0.06345	0.000000	0.06391	.	.	0.001000	0.02609	0.3925:0.2796:0.0:0.3278	3.545	0.07379	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	146.43	109	chr19	9186245	.	C	T	146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.041;DP=815;ExcessHet=0;FS=114.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=2.89;SOR=6.735	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	9380794	9380795	AA	-	exonic	ZNF177;ZNF559-ZNF177	.	frameshift deletion	ZNF177:NM_001172651:exon8:c.463_464del:p.K155Sfs*9,ZNF559-ZNF177:NM_001384659:exon13:c.463_464del:p.K155Sfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs748916868	2.529e-05	2.394e-05	1.284e-05	3.808e-05	0.0004	1.837e-05	1.625e-05	0.0003	0.0002	0	0	0	2.799e-05	0	0	1.854e-06	5.181e-05	0.0004	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001225	0.000000	0.000000	0.000000	0.000000	0.000000	0.006173	0.000000	0.05	1756.39	48	chr19	9380793	.	CAA	C	1756.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.425;DP=518;ExcessHet=0;FS=4.365;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.16;SOR=0.412	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	9	0	1	0
chr19	9474319	9474319	C	T	exonic	ZNF560	.	nonsynonymous SNV	ZNF560:NM_152476:exon4:c.G37A:p.V13M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.000729447120499	0.0025	0.00279553	0.0009	0.0090	0.0004	0.0001	0	3.041e-05	0	0	0.0007891	122	154602	rs145060906	0.0003	0.0003	0.0003	0.0003	0.0088	0.0002	0.0002	0.0080	0.0077	0.0088	0.0005	0	0	0	0	3.06e-05	0.0005	0.0001	0.0026	0.0026	0.0027	0.0024	0.0091	0.0024	0.0023	0.0083	0.0080	0.0091	0	0.0007	0	0.0002	0	0	0	0.0005	0.0002	0.122	0.27663	T	0.13	0.34716	T	0.269	0.31731	B	0.071	0.27960	B	.	.	.	.	1	0.08975	N	2.48	0.72069	M	3.37	0.05847	T	-0.41	0.14000	N	0.208	0.23125	-1.0459	0.15563	T	0.012	0.04416	T	9	0.007064134	0.00161	T	7.29E-4	0.00491	T	0.098	0.28162	.	.	0.0551355673512	0.04727	0.035258502835717645	0.03472	0.054329733866	0.06005	0.341424107552	0.16651	T	0.028315	0.20539	T	-0.628307	0.00098	T	-0.667762	0.07753	T	0.00997424594693502	0.00133	T	0.654235	0.26451	T	0.025838537	0.01567	0.04169071	0.04796	0.025838537	0.01567	0.04169071	0.04795	-5.364	0.40572	T	.	.	0.303	0.53198	B	.	.	1.533441	0.19672	14.38	0.51282988038426214	0.04535	0.06005	0.11969	N	AEFDBI	0.038370	0.05420	N	-1.12573857565081	0.06188	0.2842062	-1.23417017797945	0.05369	0.2556693	1.23002082296815E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.08	1.02	0.19102	1.004000	0.29423	.	.	-0.260000	0.06918	0.622000	0.27931	0.000000	0.08366	0.025000	0.12405	0.0:0.7709:0.2291:0.0	9.082	0.35717	952	0.10565	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	822.43	35	chr19	9474319	.	C	T	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.29;DP=399;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.45;ReadPosRankSum=1.28;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	9	0	1	0
chr19	9565999	9565999	C	T	exonic	ZNF121	.	nonsynonymous SNV	ZNF121:NM_001008727:exon4:c.G1114A:p.E372K,ZNF121:NM_001308269:exon5:c.G1114A:p.E372K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00102270968806	0.0006	0.000998403	0.0007	0.0002	0.0003	0	0.0018	0.0010	0	0	0.0006792	105	154602	rs142394580	0.0007	0.0007	0.0007	0.0006	0.0007	0.0007	0.0006	0.0007	0.0007	3.04e-05	0.0004	3.9e-05	0	0.0023	0.0004	0.0007	0.0008	1.194e-05	0.0007	0.0007	0.0006	0.0008	0.0009	0.0006	0.0006	0.0007	0.0007	0.0002	0	0.0005	0	0	0.0032	0	0.0009	0.0009	0	0.521	0.07235	T	0.05	0.48080	T	0.975	0.58077	D	0.538	0.48781	P	.	.	.	.	1	0.08975	N	1.28	0.32218	L	3.2	0.07236	T	-2.34	0.51811	N	0.172	0.19055	-1.0448	0.15884	T	0.031	0.13155	T	9	0.009579092	0.00216	T	0.001023	0.01120	T	0.048	0.13305	.	.	0.043077524339	0.03247	0.047824020942107866	0.04725	0.774958124404	0.64968	0.239520043135	0.02747	T	0.151144	0.49095	T	-0.636214	0.00088	T	-0.727187	0.04456	T	0.0472852260027183	0.05015	T	0.391661	0.09743	T	0.056790665	0.11220	0.07720338	0.17176	0.056790665	0.11219	0.07720338	0.17176	-5.909	0.45512	T	.	.	0.277	0.51032	B	.;.	.;.	1.240324	0.16358	12.49	0.96839886452135338	0.31297	0.00005	0.00104	N	AEFDBHCI	0.025743	0.01815	N	-0.429494239062672	0.24441	1.319688	-0.693773716119763	0.17115	0.908639	0.850758366374547	0.25040	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.3	1.3	0.20778	-2.305000	0.01214	.	.	0.531000	0.24825	0.000000	0.06391	0.000000	0.08366	0.329000	0.25179	0.0:1.0:0.0:0.0	8.511	0.32381	952	0.10565	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	951.43	38	chr19	9565999	.	C	T	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.4;ReadPosRankSum=0.737;SOR=0.755	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,985	9	0	1	0
chr19	9757825	9757825	C	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G865A:p.G289R,ZNF846:NM_001077624:exon6:c.G1252A:p.G418R,ZNF846:NM_001353799:exon6:c.G1249A:p.G417R	.	377	1128	16	1	0	18	0.00791557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.0025198218614	0.0007	0.000998403	0.0008	0.0003	0.0004	0.0001	0	0.0009	0.0022	0.0018	0.000815	126	154602	rs78118057	0.0007	0.0007	0.0006	0.0008	0.0057	0.0007	0.0007	0.0042	0.0037	0.0001	0.0010	0	5.039e-05	1.872e-05	0.0057	0.0007	0.0012	0.0021	0.0010	0.0010	0.0010	0.0009	0.0035	0.0008	0.0008	0.0028	0.0025	0.0001	0	0.0035	0	0	0	0.0102	0.0009	0.0043	0.0027	0.018	0.50676	D	0.01	0.65728	D	0.998	0.73220	D	0.861	0.61279	P	.	.	.	.	1	0.81001	D	1.985	0.53793	M	4.72	0.01636	T	-7.56	0.95216	D	0.188	0.20528	-0.9866	0.33445	T	0.010	0.03492	T	8	0.016305774	0.00343	T	0.00252	0.05037	T	0.092	0.26621	0.402	0.43245	0.156986980423	0.15292	0.012246333069599663	0.01183	0.0754831300525	0.08464	0.358091592789	0.19107	T	0.076781	0.35499	T	-0.455752	0.01044	T	-0.457511	0.26870	T	0.109626964581686	0.13384	T	0.605039	0.22725	T	0.37053517	0.58624	0.38306525	0.63279	0.37053517	0.58625	0.38306525	0.63278	-8.044	0.61370	D	.	.	0.602	0.68946	P	.	.	2.732761	0.35776	19.99	0.99696630778219697	0.80316	0.00271	0.01473	N	AEFDBHCI	0.142696	0.26521	N	-0.272408540502247	0.30217	1.682853	-0.527505241717213	0.21408	1.157922	0.0131411454864635	0.12423	0.460665	0.09802	0	0.486142	0.07564	0	0.575934	0.27490	0	0.567892	0.33627	0	.	.	2.01	-0.196	0.12582	1.792000	0.38387	.	.	0.493000	0.22426	0.178000	0.24038	0.000000	0.08366	0.893000	0.43066	0.0:0.6966:0.0:0.3034	5.979	0.18627	906	0.23090	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.05	1142.43	33	chr19	9757825	.	C	T	1142.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.993;DP=392;ExcessHet=0;FS=5.123;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=-0.742;SOR=1.254	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	9	0	1	0
chr19	9758008	9758008	C	G	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.G682C:p.V228L,ZNF846:NM_001077624:exon6:c.G1069C:p.V357L,ZNF846:NM_001353799:exon6:c.G1066C:p.V356L	.	403	1116	3	0	0	3	0.00134228	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000684223319064	0.0009	0.00119808	0.0003	0.0033	8.661e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs139394148	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0011	0.0011	0.0011	0.0010	0.0036	0.0009	0.0009	0.0032	0.0030	0.0036	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.24	0.17701	T	0.112	0.37037	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.275	0.00739	N	2.46	0.14907	T	-0.57	0.17210	N	0.03	0.00717	-0.9797	0.35071	T	0.007	0.02321	T	8	0.0042680204	0.00085	T	6.84E-4	0.00400	T	0.017	0.02790	0.398	0.42590	0.148003135375	0.14442	0.01252868058920087	0.01211	0.0113269033365	0.01058	0.240777403116	0.02861	T	0.002564	0.01954	T	-0.753927	0.00017	T	-0.855885	0.00888	T	0.0128012063783363	0.00218	T	0.714629	0.32694	T	0.05465445	0.10516	0.05546819	0.09736	0.05465445	0.10516	0.05546819	0.09736	-4.459	0.30348	T	.	.	0.129	0.27702	B	.	.	-0.269736	0.02752	0.369	0.86483364896799642	0.16566	0.00018	0.00208	N	AEFBHCI	0.049982	0.08690	N	-1.58284560719604	0.01352	0.05893196	-1.5915029531941	0.01707	0.07756527	0.00676574419427502	0.11302	0.615465	0.37627	0	0.588015	0.36545	0	0.463624	0.06942	0	0.655142	0.61905	0	.	.	2.01	-4.02	0.03764	-1.461000	0.02472	.	.	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.989000	0.64315	0.1567:0.2111:0.1553:0.4768	1.371	0.02079	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.019022	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1230.43	101	chr19	9758008	.	C	G	1230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=439;ExcessHet=0;FS=3.711;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.422;SOR=0.973	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	9	0	1	0
chr19	9758284	9758284	G	T	exonic	ZNF846	.	nonsynonymous SNV	ZNF846:NM_001353798:exon5:c.C406A:p.Q136K,ZNF846:NM_001077624:exon6:c.C793A:p.Q265K,ZNF846:NM_001353799:exon6:c.C790A:p.Q264K,ZNF846:NM_001353800:exon6:c.C790A:p.Q264K	.	405	1114	3	0	0	3	0.00134469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00097886745271	0.0009	0.00119808	0.0003	0.0033	8.651e-05	0	0	0.0001	0	0	0.0003363	52	154602	rs182871540	0.0002	0.0002	0.0002	0.0002	0.0044	0.0002	0.0002	0.0038	0.0036	0.0044	0.0002	0	0	0	0.0029	7.194e-05	0.0006	2.319e-05	0.0010	0.0011	0.0011	0.0010	0.0035	0.0009	0.0008	0.0031	0.0029	0.0035	0	0.0001	0	0	0	0	0.0001	0.0010	0	0.454	0.08891	T	0.124	0.35455	T	0.023	0.18885	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	0.565	0.15224	N	2.26	0.17596	T	-0.33	0.12472	N	0.092	0.07125	-0.9341	0.43530	T	0.010	0.03582	T	8	0.006107986	0.00137	T	9.79E-4	0.01026	T	0.011	0.01250	.	.	0.117506650769	0.11410	0.014851344574885825	0.01442	0.0148240308815	0.01408	0.304430782795	0.11065	T	0.001032	0.00564	T	-0.745748	0.00019	T	-0.844136	0.01038	T	0.0150262008645624	0.00323	T	0.29517	0.10821	T	0.041941877	0.06271	0.04298797	0.05245	0.041941877	0.06271	0.04298797	0.05244	-6.171	0.47687	T	.	.	0.626	0.69954	P	.;.;.	.;.;.	0.187358	0.05738	2.184	0.72009358512007882	0.09824	0.00006	0.00120	N	AEFDGBHCI	0.033337	0.03933	N	-1.43370730371528	0.02348	0.103581	-1.56290727170255	0.01888	0.08610339	0.00418278900172782	0.10449	0.553676	0.25195	0	0.588015	0.36545	0	0.463624	0.06942	0	0.567892	0.33627	0	.	.	1.18	-2.02	0.06981	-5.735000	0.00122	.	.	0.557000	0.28285	0.000000	0.06391	0.000000	0.08366	0.816000	0.38450	0.0:0.2443:0.5079:0.2478	4.437	0.10978	906	0.23090	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.019022	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1011.43	84	chr19	9758284	.	G	T	1011.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.347;DP=422;ExcessHet=0;FS=2.923;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.068;SOR=0.513	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1080	9	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	272.26	125	chr19	9854801	.	G	C	272.26	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.834;DP=873;ExcessHet=0.2348;FS=206.967;InbreedingCoeff=-0.1687;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.16;SOR=10.125	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1278	7	0	2	1
chr19	9997385	9997385	C	T	exonic	COL5A3	.	nonsynonymous SNV	COL5A3:NM_015719:exon11:c.G1249A:p.D417N	.	287	1229	6	0	0	6	0.00243506	.	.	.	3306128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.537	0.241052484757	.	0.000399361	0.0005	0.0001	0	0	0	0.0006	0.0017	0.0008	0.0002975	46	154602	rs140286940	0.0003	0.0003	0.0002	0.0003	0.0016	0.0002	0.0002	0.0010	0.0009	0	0.0002	0.0048	0	1.885e-05	0.0016	8.286e-05	0.0007	0.0012	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	2.408e-05	0	0.0001	0.0032	0	0	0	0.0001	0.0005	0.0015	0.045	0.40832	D	0.102	0.38450	T	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	U	0.000000	0.999972	0.53665	D	1.695	0.43389	L	-3.19	0.93170	D	-4.25	0.76094	D	0.602	0.62018	0.703	0.93214	D	0.848	0.94912	D	10	0.1428481	0.27128	T	0.241052	0.88700	D	0.537	0.80605	.	.	0.87749050222	0.87629	0.09848756033537757	0.09779	0.100806566589	0.11392	0.560047864914	0.47274	T	0.323454	0.69437	T	-0.223128	0.17567	T	-0.16076	0.58284	T	0.143126945182441	0.16541	T	0.929607	0.73996	D	0.3709836	0.58658	0.28299966	0.54290	0.3709836	0.58658	0.28299966	0.54289	-4.981	0.36633	T	.	.	0.137	0.29833	B	.	.	4.149754	0.62235	24.4	0.99748158069957049	0.84077	0.98247	0.80904	D	AEFBI	0.724680	0.67390	D	0.362095756556885	0.59380	4.11706	0.258086803487973	0.53111	3.481694	0.999932263388699	0.46732	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	5.632000	0.67493	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.184000	0.21420	0.0:1.0:0.0:0.0	12.283	0.54095	926	0.17793	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002020	0.000000	0.000000	0.002941	0.000000	0.000000	0.009202	0.000000	0.05	1147.43	87	chr19	9997385	.	C	T	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=406;ExcessHet=0;FS=1.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.824;SOR=0.578	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1090	9	0	1	0
chr19	10338838	10338838	T	C	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.A187G:p.I63V,ICAM3:NM_002162:exon2:c.A187G:p.I63V	.	427	1086	9	0	0	9	0.00412655	.	.	.	727847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.008	.	0.0009	0.00938498	0.0077	0.0004	0.0003	0.0495	0.0354	0.0028	0.0166	0.0035	0.0067916	1050	154602	rs17697947	0.0043	0.0043	0.0043	0.0044	0.0588	0.0042	0.0042	0.0569	0.0560	0.0002	0.0007	0.0010	0.0588	0.0369	0.0026	0.0013	0.0046	0.0029	0.0058	0.0058	0.0037	0.0079	0.0466	0.0054	0.0053	0.0418	0.0400	0.0003	0	0.0017	0.0003	0.0466	0.0439	0	0.0015	0.0047	0.0039	0.712	0.04020	T	0.819	0.03840	T	0.001	0.07471	B	0.013	0.16460	B	0.766272	0.09582	N	0.853625	1	0.22763	N	1.26	0.31868	L	2.54	0.13916	T	-0.53	0.16393	N	0.06	0.03175	-0.9342	0.43515	T	0.004	0.01435	T	10	0.0026617646	0.00041	T	.	.	.	0.008	0.00669	.	.	0.128392430309	0.12331	0.32726545291155884	0.32639	0.366126919708	0.38193	0.387051075697	0.23253	T	0.03386	0.23088	T	-0.693733	0.00040	T	-0.720596	0.04767	T	0.00489653433331906	0.00053	T	0.50435	0.15896	T	0.101566344	0.23993	0.04078051	0.04486	0.101566344	0.23992	0.04078051	0.04486	-2.093	0.03554	T	.	.	0.136	0.29533	B	.;.	.;.	-0.723412	0.01267	0.066	0.25413303159105682	0.01170	0.04019	0.09450	N	AEFBCIJ	0.052109	0.09270	N	-1.52066017625794	0.01714	0.07501812	-1.57356518576762	0.01819	0.0828294	0.999993280911081	0.74766	0.643511	0.44296	0	0.672317	0.65289	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-5.54	0.02343	-0.529000	0.06273	-1.347000	0.05657	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.218:0.5242:0.2578	8.062	0.29799	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal	.	.	.	.	rs17697947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	3045.14	83	chr19	10338838	.	T	C	3045.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.537;DP=859;ExcessHet=0.2348;FS=0.891;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.394;SOR=0.76	GT:AD:DP:GQ:PL	0/1:87,63:150:99:1370,0,2022	8	0	2	0
chr19	10359252	10359252	G	A	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385199:exon14:c.C1912T:p.R638W,TYK2:NM_001385201:exon14:c.C1900T:p.R634W,TYK2:NM_001385197:exon15:c.C2098T:p.R700W,TYK2:NM_001385198:exon15:c.C2098T:p.R700W,TYK2:NM_001385200:exon15:c.C2098T:p.R700W,TYK2:NM_001385203:exon15:c.C2098T:p.R700W,TYK2:NM_001385204:exon15:c.C2098T:p.R700W,TYK2:NM_001385205:exon15:c.C2008T:p.R670W,TYK2:NM_001385206:exon15:c.C1972T:p.R658W,TYK2:NM_001385207:exon15:c.C2080T:p.R694W,TYK2:NM_003331:exon15:c.C2098T:p.R700W,TYK2:NM_001385202:exon16:c.C2014T:p.R672W	Immunodeficiency 35, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.688951514796	.	.	3.527e-05	0	0	0.0004	0.0002	0	0	0	2.59e-05	4	154602	rs766131781	4.18e-05	4.446e-05	5.455e-05	2.893e-05	0.0005	3.316e-05	3.006e-05	0.0003	0.0003	5.974e-05	0	0	0.0005	1.96e-05	0.0002	3.148e-05	3.313e-05	1.16e-05	2.629e-05	2.626e-05	2.57e-05	2.69e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.989	0.79672	D	0.004791	0.33389	N	0.127944	0.999918	0.58761	D	2.765	0.80766	M	-1.87	0.84415	D	-4.95	0.81910	D	0.734	0.73916	0.700	0.93175	D	0.770	0.92167	D	10	0.8909832	0.88440	D	0.688952	0.97436	D	0.638	0.86181	0.675	0.81299	0.866428657405	0.86512	0.6404422011368099	0.63979	0.956637058499	0.72843	0.452429115772	0.32276	T	0.629162	0.89423	D	-0.117035	0.33611	T	-0.0428557	0.67508	D	0.588689438836838	0.35955	D	0.955004	0.88094	D	0.56761074	0.70929	0.48864645	0.70411	0.56761074	0.70930	0.48864645	0.70411	-12.718	0.88168	D	.	.	0.135	0.41873	B	.;.;.;.	.;.;.;.	4.755712	0.76843	26.6	0.99925941479507341	0.99042	0.98409	0.82480	D	AEFDBI	0.703701	0.65965	D	0.655337625050763	0.76717	6.537889	0.560642212316703	0.72141	5.763255	0.999942527502328	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	2.536000	0.45351	8.435000	0.77180	0.639000	0.52094	0.892000	0.31242	1.000000	0.68203	0.043000	0.14563	0.0:0.0:1.0:0.0	15.825	0.78473	769	0.49307	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1166.43	33	chr19	10359252	.	G	A	1166.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.004;DP=412;ExcessHet=0;FS=9.358;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-0.514;SOR=0.852	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1090	9	0	1	0
chr19	10417810	10417810	A	G	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_001243121:exon3:c.A199G:p.T67A	.	418	1101	3	0	0	3	0.00136054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0393971841346	.	.	9.572e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs762249549	2.995e-05	2.873e-05	1.695e-05	4.322e-05	0.0005	2.243e-05	1.989e-05	0.0002	0.0001	0	0	0	0	0	0.0005	1.284e-05	8.525e-05	0.0002	2.631e-05	2.626e-05	5.148e-05	0	0.0004	8.15e-06	5.15e-06	7.31e-05	3.036e-05	0	0	0	0	0	0	0.0034	1.472e-05	0	0.0004	.	.	.	0.518	0.10536	T	.	.	.	.	.	.	.	.	.	.	0.997838	0.22484	N	.	.	.	-0.32	0.68181	T	.	.	.	0.304	0.34336	-1.0135	0.25816	T	0.099	0.36983	T	6	0.0982925	0.17760	T	0.039397	0.58785	D	.	.	.	.	0.134007934775	0.12933	.	.	.	.	.	.	.	.	.	.	-0.34408	0.05110	T	-0.431699	0.29742	T	0.0503598702691813	0.05564	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	-3.086	0.11136	T	.	.	0.124	0.26138	B	.	.	1.820715	0.23134	15.90	0.6344079258611699	0.07224	0.83864	0.42957	D	AEFDBHCI	0.234164	0.35696	N	-0.385022190274682	0.26002	1.415791	-0.388494587779634	0.25339	1.392872	0.999997767040046	0.74766	0.676563	0.55306	0	0.958517	0.99986	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	3.96	2.95	0.33285	2.972000	0.48948	4.781000	0.44836	-0.051000	0.17024	1.000000	0.71638	0.966000	0.29516	0.526000	0.29613	0.8839:0.0:0.1161:0.0	6.280	0.20213	764	0.49969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	600.43	64	chr19	10417810	.	A	G	600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=378;ExcessHet=0;FS=5.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.492;SOR=0.574	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1010	9	0	1	0
chr19	10420933	10420933	C	T	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_001111307:exon1:c.C169T:p.R57W	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	0.00678914	0.0105	0.0004	0.0005	0.0596	0.0696	0.0047	0.0167	0.0056	0.0045795	708	154602	rs201432982	0.0031	0.0033	0.0030	0.0031	0.0437	0.0030	0.0030	0.0419	0.0412	0.0002	0.0007	0.0009	0.0437	0.0338	0.0023	0.0008	0.0037	0.0035	0.0051	0.0051	0.0031	0.0071	0.0304	0.0048	0.0047	0.0265	0.0250	0.0003	0	0.0016	0.0003	0.0304	0.0441	0	0.0012	0.0047	0.0037	.	.	.	0.028	0.54934	D	0.912	0.50421	P	0.109	0.31370	B	0.084477	0.02389	N	1.840680	0.999986	0.54805	D	0	0.06538	N	.	.	.	.	.	.	0.229	0.25745	-1.0545	0.13172	T	0.006	0.02168	T	10	0.003028363	0.00050	T	.	.	.	.	.	.	.	0.102598925029	0.09809	.	.	.	.	0.788813471794	0.80261	T	0.050592	0.28638	T	-0.499693	0.00574	T	-0.453307	0.27332	T	0.0611437898960345	0.07347	T	0.485151	0.14792	T	0.11001145	0.26006	0.18093538	0.40924	0.11001145	0.26006	0.18093538	0.40923	-6.478	0.50116	T	.	.	0.169	0.37159	B	.	.	3.320444	0.45663	22.2	0.99268790816438879	0.57491	0.72601	0.35530	D	AEFDBHCIJ	0.219032	0.34396	N	-0.364526428777785	0.26741	1.462	-0.402129127772751	0.24934	1.368285	0.999999943656591	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.79	2.73	0.31266	0.514000	0.22492	0.823000	0.21872	0.597000	0.34315	0.989000	0.36753	0.977000	0.30130	0.408000	0.26961	0.2277:0.7723:0.0:0.0	8.586	0.32819	759	0.50631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004111	0.000000	0.002778	0.000000	0.000000	0.000000	0.012579	0.007634	0.1	1512.14	34	chr19	10420933	.	C	T	1512.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.038;DP=439;ExcessHet=0.2348;FS=2.737;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.172;SOR=0.908	GT:AD:DP:GQ:PL	0/1:37,39:76:99:832,0,776	8	0	2	0
chr19	10514162	10514162	C	T	exonic	S1PR5	.	nonsynonymous SNV	S1PR5:NM_001166215:exon2:c.G850A:p.V284I,S1PR5:NM_030760:exon2:c.G850A:p.V284I	.	333	1181	8	0	0	8	0.00337553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0008	0.00479233	0.0050	0.0003	0.0003	0.0174	0.0389	0.0025	0.0193	0.0020	0.0040491	626	154602	rs150461309	0.0031	0.0031	0.0031	0.0031	0.0335	0.0030	0.0030	0.0320	0.0314	5.978e-05	0.0007	0.0010	0.0335	0.0365	0.0038	0.0008	0.0030	0.0018	0.0048	0.0048	0.0029	0.0068	0.0216	0.0045	0.0044	0.0184	0.0172	0.0002	0	0.0023	0.0003	0.0216	0.0441	0	0.0012	0.0033	0.0029	1.0	0.00964	T	1.0	0.03296	T	0.045	0.21781	B	0.021	0.19346	B	0.089285	0.20435	U	0.440276	0.999994	0.08975	N	-0.415	0.02918	N	1.23	0.36872	T	0.17	0.05125	N	0.078	0.05287	-1.0134	0.25848	T	0.014	0.05608	T	10	0.0031430721	0.00053	T	.	.	.	0.046	0.12618	.	.	0.531531992086	0.52802	0.32803289889116455	0.32716	.	.	0.648723840714	0.59804	T	0.033523	0.22947	T	-0.654708	0.00068	T	-0.700246	0.05813	T	0.00794326790643292	0.00094	T	0.652235	0.26282	T	0.061632678	0.12783	0.03606189	0.02977	0.061632678	0.12782	0.03606189	0.02977	-6.549	0.50663	T	.	.	0.099	0.26232	B	.;.;.	.;.;.	1.992013	0.25307	16.72	0.83038261321540119	0.14509	0.06877	0.12903	N	AEFDBCI	0.080054	0.16180	N	-1.11962483273056	0.06294	0.2893701	-1.04034974972405	0.08909	0.4404267	0.976464743820542	0.29727	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.21	1.84	0.24348	-0.655000	0.05447	3.954000	0.40696	0.465000	0.21702	0.000000	0.06391	0.999000	0.35428	0.947000	0.49155	0.147:0.4824:0.143:0.2276	1.722	0.02738	743	0.52768	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	rs150461309	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.1	3239.14	34	chr19	10514162	.	C	T	3239.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.876;DP=622;ExcessHet=0.2348;FS=0.424;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.23;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,72:123:99:1572,0,1104	8	0	2	0
chr19	10552121	10552121	G	C	exonic	ATG4D	.	nonsynonymous SNV	ATG4D:NM_001281504:exon8:c.G933C:p.E311D,ATG4D:NM_032885:exon8:c.G1122C:p.E374D	.	426	1076	20	0	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	.	0.0002	0.000599042	0.0007	0	0.0003	0	0	0.0003	0.0022	0.0033	0.0005563	86	154602	rs141346756	0.0003	0.0003	0.0002	0.0005	0.0040	0.0003	0.0003	0.0033	0.0032	0	0.0002	0.0001	0	0	0.0040	0.0001	0.0005	0.0037	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	0	0.0003	0	0	0	0.0002	0.0005	0.0031	0.025	0.47320	D	0.118	0.59159	T	0.392	0.34646	B	0.261	0.39516	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.465	0.36909	L	0.99	0.41750	T	-1.99	0.45949	N	0.553	0.57860	-1.0952	0.04723	T	0.084	0.32843	T	10	0.016469032	0.00347	T	0.023869	0.46847	T	0.202	0.48754	0.542	0.65446	0.458101713262	0.45433	0.403865083192334	0.40302	0.981003695399	0.73741	0.661559700966	0.61633	T	0.061153	0.31577	T	-0.405011	0.02146	T	-0.356336	0.38476	T	0.0440389193697354	0.04428	T	0.925307	0.72522	D	0.5230501	0.68434	0.35204622	0.60789	0.5230501	0.68435	0.35204622	0.60788	-7.826	0.59879	D	.	.	0.305	0.54616	B	.;.;.	.;.;.	4.653263	0.74205	26.1	0.99712663118766443	0.81423	0.95848	0.66412	D	AEFDGBHCI	0.951781	0.96665	D	-0.15424566245146	0.35055	2.008676	-0.0828658949234684	0.36099	2.096491	0.999999999811327	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.17	4.12	0.47504	7.096000	0.76614	8.309000	0.76944	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.802000	0.37819	0.0:0.0:0.8489:0.1511	14.217	0.65341	735	0.53711	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.000000	0.050000	0.000000	0.000000	0.003788	0.05	1449.43	105	chr19	10552121	.	G	C	1449.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=435;ExcessHet=0;FS=1.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=-0.487;SOR=0.898	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	9	0	1	0
chr19	10631646	10631646	G	A	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon8:c.G517A:p.A173T,SLC44A2:NM_001363611:exon8:c.G523A:p.A175T,SLC44A2:NM_020428:exon8:c.G523A:p.A175T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00500901989889	.	.	8.271e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs760046078	6.843e-06	1.026e-05	5.447e-06	8.254e-06	5.797e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	2.237e-05	0	2.519e-05	0	0	2.698e-06	0	5.797e-05	1.314e-05	1.313e-05	2.569e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0	0.751	0.03576	T	0.177	0.56192	T	0.002	0.09854	B	0.002	0.06944	B	0.000031	0.55875	D	0.118870	0.839216	0.35039	D	2.135	0.59519	M	2.21	0.18414	T	-0.34	0.12661	N	0.549	0.57946	-1.0525	0.13709	T	0.028	0.12103	T	10	0.14656931	0.27786	T	0.005009	0.12660	T	0.142	0.37995	0.422	0.46529	0.351180957027	0.34734	0.8066983716275047	0.80624	0.31972383323	0.34172	0.469737440348	0.34644	T	0.00571	0.14410	T	-0.166154	0.25818	T	-0.476445	0.24826	T	0.407502174377441	0.29224	T	0.919208	0.70896	D	0.08889599	0.20753	0.12194454	0.29418	0.08889599	0.20753	0.12194454	0.29417	-7.708	0.60694	D	.	.	0.299	0.52921	B	.;.;.;.;.	.;.;.;.;.	4.372976	0.67337	25.1	0.84242597941807129	0.15178	0.98308	0.81482	D	AEFGBI	0.741705	0.68556	D	-0.163665312308865	0.34656	1.980691	-0.0202575475888222	0.38800	2.291238	0.999996955087461	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.73	4.73	0.59485	6.716000	0.74519	11.733000	0.95036	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.932000	0.46971	0.0:0.0:1.0:0.0	16.687	0.85169	814	0.42100	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2151.43	147	chr19	10631646	.	G	A	2151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=1665;ExcessHet=0;FS=1.094;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.073;SOR=0.795	GT:AD:DP:GQ:PL	0/0:179,0:179:99:0,120,1800	9	0	1	0
chr19	10986422	10986422	C	T	exonic	SMARCA4	.	nonsynonymous SNV	SMARCA4:NM_001128845:exon3:c.C589T:p.P197S,SMARCA4:NM_001128846:exon3:c.C589T:p.P197S,SMARCA4:NM_001128848:exon3:c.C589T:p.P197S,SMARCA4:NM_001128847:exon4:c.C589T:p.P197S,SMARCA4:NM_001128849:exon4:c.C589T:p.P197S,SMARCA4:NM_001374457:exon4:c.C589T:p.P197S,SMARCA4:NM_003072:exon4:c.C589T:p.P197S,SMARCA4:NM_001128844:exon5:c.C589T:p.P197S	Coffin-Siris syndrome 4, Autosomal dominant	0	1497	24	1	0	26	0.00860927	.	.	.	138990	not_provided|Intellectual_disability,_autosomal_dominant_16|Rhabdoid_tumor_predisposition_syndrome_2|Hereditary_cancer-predisposing_syndrome|Coffin-Siris_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.653	.	0.0009	0.00139776	0.0057	0.0003	0.0014	0	0.0231	0.0049	0.0081	0.0096	0.0021733	336	154602	rs200664441	0.0019	0.0020	0.0018	0.0021	0.0072	0.0019	0.0019	0.0067	0.0065	3.049e-05	0.0002	0.0007	0	0.0101	0.0047	0.0014	0.0017	0.0072	0.0019	0.0019	0.0014	0.0025	0.0054	0.0017	0.0017	0.0038	0.0032	0.0002	0	0.0003	0.0003	0.0002	0.0113	0	0.0019	0.0009	0.0054	0.178	0.22138	T	0.357	0.19845	T	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.01	0.25309	L	-2.37	0.88220	D	-2.54	0.55025	D	0.776	0.77413	0.313	0.87761	D	0.708	0.89947	D	10	0.008630902	0.00196	T	.	.	.	0.653	0.86936	.	.	0.657837784098	0.65497	0.6235723534144302	0.62290	0.913241329037	0.71139	0.714207053185	0.69203	T	0.675847	0.90428	D	-0.201606	0.20572	T	-0.0585044	0.66437	T	0.0357437925679412	0.02936	T	0.970203	0.89274	D	0.13477674	0.31302	0.16040199	0.37361	0.15440038	0.34949	0.16865475	0.38840	-10.812	0.78616	D	0.23241403128316984	0.31457	0.496	0.71937	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.208073	0.63548	24.6	0.9989858992289542	0.97124	0.98040	0.79094	D	AEFDBHCI	0.912643	0.87356	D	0.50929276600967	0.67637	5.108343	0.495885789513639	0.67717	5.121527	0.999999999802393	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.830000	0.84907	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:1.0:0.0:0.0	15.759	0.77828	508	0.75398	Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004065	0.000000	0.008219	0.000000	0.000000	0.008772	0.000000	0.007576	0.05	1485.43	36	chr19	10986422	.	C	T	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=439;ExcessHet=0;FS=2.23;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.464;SOR=0.83	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1011	9	0	1	0
chr19	11221884	11221884	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon28:c.C3517T:p.R1173W,DOCK6:NM_001367830:exon29:c.C3622T:p.R1208W	Adams-Oliver syndrome 2, Autosomal recessive	1	1495	25	1	0	27	0.00894929	.	.	.	438086	not_provided|DOCK6-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.024716856273	0.0027	0.00159744	0.0025	0.0023	0.0012	0	0.0003	0.0029	0.0033	0.0042	0.0023544	364	154602	rs145081732	0.0026	0.0026	0.0025	0.0027	0.0083	0.0025	0.0025	0.0064	0.0058	0.0015	0.0014	0.0032	2.519e-05	0.0002	0.0083	0.0028	0.0023	0.0035	0.0018	0.0018	0.0021	0.0016	0.0025	0.0017	0.0016	0.0021	0.0020	0.0016	0	0.0013	0.0023	0	0	0.0102	0.0024	0.0014	0.0025	0.002	0.72154	D	0.005	0.72224	D	0.981	0.59675	D	0.586	0.50343	P	0.047094	0.23377	N	0.416055	0.657158	0.30481	N	1.1	0.28011	L	1.85	0.24472	T	-3.22	0.64939	D	0.425	0.46462	-1.0565	0.12646	T	0.044	0.18742	T	10	0.010068476	0.00225	T	0.024717	0.47706	T	0.128	0.35103	.	.	0.414150184683	0.41028	0.5947782358054443	0.59407	0.462280186915	0.45762	0.568136334419	0.48413	T	0.040953	0.25698	T	-0.406529	0.02097	T	-0.357008	0.38398	T	0.0362760959576312	0.03028	T	0.926807	0.73035	D	0.08433924	0.19516	0.108308405	0.26088	0.08433924	0.19516	0.108308405	0.26087	-9.738	0.72328	D	.	.	0.198	0.42126	B	.	.	4.949368	0.81744	27.6	0.99899746864282124	0.97199	0.94870	0.62616	D	AEFBI	0.548525	0.56177	D	-0.0397028517292993	0.40063	2.372941	-0.0379795339695781	0.38015	2.233739	5.09064424599943E-5	0.03989	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.44	3.37	0.37692	1.997000	0.40406	.	.	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.599000	0.31363	0.0:0.0:0.6585:0.3415	11.223	0.48098	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.010870	0.014620	0.000000	0.008621	0.003049	0.015152	0.15	3219.45	33	chr19	11221884	.	G	A	3219.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.06;DP=541;ExcessHet=0.7463;FS=2.77;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.13;SOR=0.873	GT:AD:DP:GQ:PL	0/1:64,43:107:99:1036,0,1527	7	0	3	0
chr19	11232216	11232216	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_001367830:exon23:c.C2792T:p.A931V	Adams-Oliver syndrome 2, Autosomal recessive	8	1501	13	0	0	13	0.00431177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0164832661021	.	.	0.0012	0.0038	0.0060	0	0	0.0012	0	0.0009	0.0001164	18	154602	rs546483832	0.0009	0.0007	0.0009	0.0010	0.0010	0.0009	0.0009	0.0010	0.0010	8.195e-05	0.0001	0.0004	0	7.682e-05	0.0005	0.0010	0.0005	0.0008	0.0007	0.0007	0.0008	0.0007	0.0017	0.0006	0.0006	0.0012	0.0011	0.0001	0	6.544e-05	0.0003	0	0	0	0.0014	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.58761	D	.	.	.	1.55	0.29866	T	.	.	.	.	.	-0.9962	0.30974	T	0.027	0.11707	T	8	0.008235186	0.00187	T	0.016483	0.37757	T	.	.	.	.	0.166414681773	0.16258	.	.	.	.	.	.	.	0.009036	0.08254	T	-0.66842	0.00056	T	-0.7397	0.03903	T	0.0294352531274465	0.01903	T	0.656534	0.26618	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03515	B	.	.	2.410188	0.30976	18.60	0.97299676562686588	0.33271	0.64346	0.32377	D	AEFBHI	0.071678	0.14279	N	-0.437391869190072	0.24170	1.303172	-0.362738375310932	0.26118	1.440591	0.134523148348208	0.17156	0.67177	0.52595	0	0.601575	0.49859	0	0.575934	0.27490	0	0.711	0.71501	0	.	.	4.52	-0.877	0.10083	1.618000	0.36565	.	.	0.618000	0.50648	0.982000	0.35529	0.021000	0.20819	0.993000	0.69303	0.2092:0.0:0.3912:0.3996	4.190	0.09877	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	421.43	33	chr19	11232216	.	G	A	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=358;ExcessHet=0;FS=1.114;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-0.248;SOR=0.889	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	9	0	1	0
chr19	11364166	11364166	C	T	exonic	PLPPR2	.	nonsynonymous SNV	PLPPR2:NM_022737:exon9:c.C953T:p.P318L	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0177260916207	.	.	8.411e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs750147684	6.168e-06	8.209e-06	4.089e-06	8.27e-06	2.993e-05	2.9e-06	2.1e-06	1.94e-06	1.28e-06	2.993e-05	0	0	0	0	0	5.404e-06	1.66e-05	1.163e-05	6.571e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.805	0.03077	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.366202	0.04333	N	1.422770	1	0.81001	D	.	.	.	1.55	0.29866	T	1.41	0.00825	N	0.409	0.44952	-1.0659	0.10339	T	0.058	0.24204	T	9	0.073316365	0.11060	T	0.017726	0.39542	T	0.072	0.21020	0.232	0.16005	0.486707162081	0.48303	.	.	.	.	.	.	.	0.011716	0.10413	T	-0.183172	0.23265	T	-0.40026	0.33354	T	0.331740647554398	0.26294	T	0.507449	0.16094	T	0.036405016	0.04471	0.03604941	0.02974	0.036405016	0.04471	0.03604941	0.02974	-4.029	0.24236	T	.	.	0.090	0.12750	B	.	.	1.282316	0.16821	12.79	0.89859793520718456	0.19165	0.54024	0.29514	D	AEFDGBI	0.074389	0.14909	N	-0.354070184586498	0.27123	1.485594	-0.249486611460038	0.29789	1.671847	0.988282708574113	0.31463	0.706548	0.73137	0	0.633656	0.55848	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.3	2.07	0.26004	0.492000	0.22144	.	.	0.549000	0.26987	1.000000	0.71638	0.985000	0.30750	0.998000	0.85391	0.0:0.7068:0.1882:0.1049	6.176	0.19659	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1273.43	35	chr19	11364166	.	C	T	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=467;ExcessHet=0;FS=1.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-1.194;SOR=0.864	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1334	9	0	1	0
chr19	11383211	11383211	C	T	exonic	EPOR	.	nonsynonymous SNV	EPOR:NM_000121:exon2:c.G137A:p.G46E	.	418	1072	31	1	0	33	0.0151585	.	.	.	342728	not_provided|Primary_familial_polycythemia_due_to_EPO_receptor_mutation	MedGen:C3661900|MONDO:MONDO:0007572,MedGen:C4551637,OMIM:133100,Orphanet:90042	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.138	.	0.0048	0.00419329	0.0056	0.0029	0.0029	0	0.0009	0.0065	0.0046	0.0107	0.0053233	823	154602	rs45516306	0.0071	0.0071	0.0070	0.0073	0.0114	0.0070	0.0070	0.0108	0.0106	0.0018	0.0037	0.0068	0	0.0009	0.0054	0.0077	0.0065	0.0114	0.0046	0.0046	0.0047	0.0045	0.0122	0.0043	0.0042	0.0097	0.0088	0.0016	0	0.0049	0.0052	0.0002	0.0008	0	0.0068	0.0043	0.0122	1.0	0.00964	T	0.548	0.10678	T	0.004	0.12183	B	0.009	0.14300	B	0.217787	0.16210	N	0.588615	1	0.08975	N	0.685	0.16464	N	-1.53	0.81559	D	-0.91	0.24460	N	0.084	0.06059	-0.9572	0.39699	T	0.125	0.42966	T	10	0.0049070716	0.00105	T	.	.	.	0.138	0.37187	.	.	0.564541561611	0.56117	0.6439902255400745	0.64334	1.05196235552	0.76184	0.47251406312	0.35026	T	0.216065	0.57812	T	-0.52474	0.00413	T	-0.518568	0.20440	T	0.00488103608185247	0.00052	T	0.614539	0.23442	T	0.12722376	0.29776	0.09064179	0.21267	0.12652256	0.29632	0.08392942	0.19272	-2.562	0.06220	T	.	.	0.084	0.10691	B	.;.	.;.	0.683896	0.10526	7.236	0.71319046514445861	0.09589	0.08374	0.14311	N	ALL	0.087113	0.17664	N	-1.27220848452605	0.04014	0.1803893	-1.27620343391686	0.04754	0.2249996	0.999934561351446	0.46732	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	4.93	-2.21	0.06581	-0.065000	0.11575	.	.	0.469000	0.21855	0.157000	0.23755	0.000000	0.08366	0.529000	0.29684	0.3403:0.2465:0.1679:0.2454	0.198	0.00132	856	0.34373	Growth hormone/erythropoietin receptor, ligand binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.007049	0.000000	0.002717	0.000000	0.000000	0.000000	0.012195	0.022727	0.05	624.43	32	chr19	11383211	.	C	T	624.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.972;DP=334;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-1.837;SOR=0.382	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1115	9	0	1	0
chr19	11405406	11405406	G	C	exonic	RGL3	.	nonsynonymous SNV	RGL3:NM_001035223:exon8:c.C1017G:p.N339K,RGL3:NM_001161616:exon8:c.C1017G:p.N339K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.196437592837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.003	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999782	0.49076	D	.	.	.	-0.44	0.69777	T	-5.56	0.86296	D	0.955	0.96416	0.121	0.84545	D	0.587	0.85193	D	10	0.9687301	0.96415	D	0.196438	0.86479	D	0.633	0.85924	0.856	0.95547	0.645372302287	0.64243	0.7254216986829906	0.72486	0.56572969357	0.52901	0.781132102013	0.79098	T	0.497296	0.81923	T	0.0551969	0.59008	T	-0.15849	0.58488	T	0.997808158397675	0.92464	D	0.953905	0.82456	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.96466	P	.;.	.;.	3.588069	0.50618	23.0	0.99736088181629057	0.83119	0.90066	0.50957	D	AEFDBI	0.565574	0.57190	D	0.48326814403872	0.66114	4.908338	0.284030260583653	0.54608	3.625159	1.08984404763921E-4	0.05123	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.26	0.744	0.17503	0.403000	0.20706	.	.	0.676000	0.76740	0.998000	0.41325	0.995000	0.32472	0.700000	0.34141	0.3282:0.0:0.6718:0.0	8.708	0.33527	862	0.33134	Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	167.94	69	chr19	11405406	.	G	C	167.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.82;DP=544;ExcessHet=0.2348;FS=40.504;InbreedingCoeff=-0.2501;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.53;ReadPosRankSum=1;SOR=5.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:50,0:50:78:.:.:0,78,916:.	4	0	2	4
chr19	11507462	11507462	T	C	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon5:c.A404G:p.N135S,ECSIT:NM_016581:exon7:c.A1046G:p.N349S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.0134218067431	7.7e-05	.	5.776e-05	0	8.657e-05	0	0	7.51e-05	0	6.059e-05	6.47e-05	10	154602	rs141979045	2.6e-05	2.668e-05	2.042e-05	3.163e-05	0.0003	1.933e-05	1.692e-05	8.861e-05	6.427e-05	2.987e-05	0.0002	0.0005	2.519e-05	0	0.0003	3.598e-06	1.656e-05	0.0001	3.289e-05	3.284e-05	3.858e-05	2.693e-05	0.0001	1.262e-05	7.99e-06	2.267e-05	9.09e-06	0	0	0.0001	0.0003	0	0	0	1.471e-05	0.0005	0	0.27	0.24564	T	0.043	0.51421	D	0.005	0.12996	B	0.006	0.12133	B	0.175607	0.17247	N	0.595355	1	0.81001	D	0.69	0.16971	N	0.97	0.42502	T	-1.47	0.38734	N	0.089	0.07673	-1.0987	0.04252	T	0.065	0.27017	T	10	0.058678895	0.06937	T	0.013422	0.32810	T	0.080	0.23350	.	.	0.0954503805726	0.09146	0.24754526490829468	0.24668	0.212226253368	0.23721	0.277329444885	0.07123	T	0.115772	0.43461	T	-0.486031	0.00683	T	-0.666626	0.07826	T	0.0223439029607609	0.00947	T	0.339666	0.07323	T	0.111172535	0.26273	0.06776163	0.14062	0.111172535	0.26272	0.06776163	0.14061	-2.268	0.04610	T	.	.	0.073	0.07985	B	.;.	.;.	2.577212	0.33407	19.33	0.81426514600414679	0.13680	0.91279	0.53214	D	AEFDBI	0.397490	0.47354	N	-0.653047008345584	0.17372	0.8933216	-0.588042418265683	0.19804	1.064211	0.999971827993049	0.50053	0.722319	0.85440	0	0.698795	0.70079	0	0.0	0.00061	3	0.645665	0.59343	0	.	.	5.1	3.0	0.33773	4.462000	0.59857	.	.	0.590000	0.31872	0.938000	0.32564	0.823000	0.27144	0.219000	0.22435	0.0:0.162:0.0:0.838	8.644	0.33156	759	0.50631	ECSIT, C-terminal domain|ECSIT, C-terminal domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1431.43	40	chr19	11507462	.	T	C	1431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=557;ExcessHet=0;FS=0.713;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=1.85;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	9	0	1	0
chr19	11507562	11507700	CCTACTCCAAGGTGGGGAGTGCAGGCGGGGTCAGAGGCCAGGGCTCTCTCGGTCTCCCTCCTCCAGCCTCTCCCATGCACCCTCAGGGTAGTGCCAGCCCACTCCCCAGCCCCAACACATGCTTTGCTTTAAGCCCTCA	-	exonic	ECSIT	.	frameshift deletion	ECSIT:NM_001142465:exon5:c.304delG:p.E102Kfs*22,ECSIT:NM_001142464:exon6:c.797delG:p.G266Efs*117,ECSIT:NM_001243204:exon7:c.825delG:p.K276Sfs*31,ECSIT:NM_016581:exon7:c.946delG:p.E316Kfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	6.84e-06	1.361e-06	4.126e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1157.39	40	chr19	11507561	.	TCCTACTCCAAGGTGGGGAGTGCAGGCGGGGTCAGAGGCCAGGGCTCTCTCGGTCTCCCTCCTCCAGCCTCTCCCATGCACCCTCAGGGTAGTGCCAGCCCACTCCCCAGCCCCAACACATGCTTTGCTTTAAGCCCTCA	T	1157.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.49;DP=681;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-2.409;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1243:.	9	0	1	0
chr19	11507779	11507779	G	A	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon4:c.C226T:p.P76S,ECSIT:NM_016581:exon6:c.C868T:p.P290S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676	0.071656567893	.	.	3.305e-05	0	0	0	0	1.505e-05	0.0011	0.0001	2.59e-05	4	154602	rs779179352	7.525e-06	7.524e-06	2.723e-06	1.238e-05	0.0007	4.04e-06	2.95e-06	0.0002	0.0001	0	0	0	0	0	0.0007	8.993e-07	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.91255	D	0.105	0.92824	T	0.981	0.59675	D	0.727	0.55167	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.905	0.84014	M	0.38	0.57575	T	-6.93	0.93404	D	0.923	0.92667	-0.4090	0.71742	T	0.334	0.70142	T	10	0.9459584	0.93921	D	0.071657	0.71328	D	0.676	0.88061	0.834	0.94231	0.619203848162	0.61612	0.7712171360803775	0.77071	0.844783948381	0.68233	0.537290930748	0.44064	T	0.51909	0.83148	D	0.168771	0.71010	D	0.278951	0.87069	D	0.674984893225039	0.39561	D	0.935906	0.76011	D	0.638093	0.74729	0.5389049	0.73352	0.638093	0.74730	0.5389049	0.73353	-7.198	0.55467	T	.	.	0.533	0.69987	A	.;.;.	.;.;.	4.826878	0.78677	26.9	0.9992829389431187	0.99222	0.98021	0.78937	D	AEFDBI	0.881651	0.80917	D	0.697260719209088	0.79451	7.080709	0.662458555835147	0.79543	7.104368	0.999999999999965	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.83	4.83	0.61880	9.424000	0.96702	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.0:1.0:0.0	16.721	0.85268	759	0.50631	ECSIT, C-terminal domain|ECSIT, C-terminal domain;.;ECSIT, C-terminal domain|ECSIT, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1258.43	40	chr19	11507779	.	G	A	1258.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.886;DP=524;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.469;SOR=0.833	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	9	0	1	0
chr19	11507850	11507989	CCTGGTGTGGAGACATACATGCCCTGTGCCCTGCAAGGGACTCGGCCCAGAGGCCCAGGGAGCCCAGCCTAGGCCCAGCGAGAACCTGGCAGGGCCTGGGTAAGGTTAGAGACTTGGCTGCCCCCATGCTCTCGGACTTA	-	exonic	ECSIT	.	frameshift deletion	ECSIT:NM_001142465:exon4:c.155delG:p.G52Efs*72,ECSIT:NM_016581:exon6:c.797delG:p.G266Efs*72	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	7.524e-06	1.362e-06	1.376e-06	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	50.39	40	chr19	11507849	.	TCCTGGTGTGGAGACATACATGCCCTGTGCCCTGCAAGGGACTCGGCCCAGAGGCCCAGGGAGCCCAGCCTAGGCCCAGCGAGAACCTGGCAGGGCCTGGGTAAGGTTAGAGACTTGGCTGCCCCCATGCTCTCGGACTTA	T	50.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.28;DP=605;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.2;ReadPosRankSum=-1.49;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1243	9	0	1	0
chr19	11616924	11616924	C	T	exonic	ZNF627	.	nonsynonymous SNV	ZNF627:NM_001290084:exon4:c.C91T:p.R31C,ZNF627:NM_001290085:exon4:c.C91T:p.R31C,ZNF627:NM_145295:exon4:c.C421T:p.R141C,ZNF627:NM_001290083:exon5:c.C325T:p.R109C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00222674930716	0.0013	0.00199681	0.0004	0.0040	0.0003	0	0	6.004e-05	0	0.0001	0.0003881	60	154602	rs115761607	0.0002	0.0002	0.0002	0.0002	0.0063	0.0002	0.0002	0.0056	0.0053	0.0063	0.0004	0	0.0002	0	0.0002	1.888e-05	0.0003	5.797e-05	0.0016	0.0016	0.0017	0.0014	0.0056	0.0014	0.0014	0.0050	0.0047	0.0056	0	0.0003	0	0	0	0	5.879e-05	0.0009	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	0.685427	0.33274	D	-3.64	0.00002	N	3.08	0.08460	T	4.32	0.00042	N	0.088	0.06587	-0.9441	0.41960	T	0.002	0.00707	T	9	0.010224074	0.00228	T	0.002227	0.04233	T	0.084	0.24469	.	.	0.171388866994	0.16791	0.06358278029088446	0.06297	0.327290207429	0.34864	0.205992653966	0.00652	T	0.020161	0.15924	T	-0.643796	0.00079	T	-0.695626	0.06068	T	0.00989546419169491	0.00131	T	0.814619	0.46840	T	0.046252348	0.07711	0.03415314	0.02431	0.046252348	0.07710	0.03415314	0.02431	-1.609	0.02003	T	.	.	0.081	0.08368	B	.	.	0.689757	0.10586	7.290	0.046142137339089923	0.00004	0.00010	0.00151	N	AEFDGBCI	0.014783	0.00250	N	-1.63560701172435	0.01097	0.04762301	-1.55708366683387	0.01927	0.08795023	0.0344922843129689	0.14157	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.674467	0.66132	0	.	.	1.36	0.283	0.14947	0.574000	0.23416	.	.	0.537000	0.25018	0.176000	0.24013	0.000000	0.08366	0.327000	0.25133	0.0:0.2435:0.0:0.7565	4.245	0.10118	798	0.45050	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	1405.43	34	chr19	11616924	.	C	T	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0.375;SOR=0.67	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1174	9	0	1	0
chr19	11867712	11867712	A	C	exonic	ZNF439	.	nonsynonymous SNV	ZNF439:NM_001348724:exon3:c.A235C:p.K79Q,ZNF439:NM_001348725:exon3:c.A235C:p.K79Q,ZNF439:NM_152262:exon3:c.A643C:p.K215Q,ZNF439:NM_001348718:exon4:c.A667C:p.K223Q,ZNF439:NM_001348719:exon4:c.A658C:p.K220Q,ZNF439:NM_001348721:exon4:c.A604C:p.K202Q,ZNF439:NM_001348722:exon4:c.A502C:p.K168Q,ZNF439:NM_001348720:exon5:c.A604C:p.K202Q,ZNF439:NM_001348723:exon5:c.A502C:p.K168Q	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00157691329888	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs762134920	7.525e-06	7.524e-06	1.361e-06	1.375e-05	0.0001	4.04e-06	2.95e-06	7.124e-05	5.482e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.42487	D	0.049	0.48336	D	0.993	0.65571	D	0.892	0.63276	P	.	.	.	.	1	0.08975	N	1.345	0.33447	L	1.28	0.35960	T	-3.37	0.66665	D	0.155	0.16028	-1.0279	0.21136	T	0.103	0.37994	T	9	0.19453731	0.35269	T	0.001577	0.02523	T	0.037	0.09474	0.492	0.57890	0.452834868696	0.44909	0.00646029522949608	0.00614	0.270498781505	0.29572	0.214980989695	0.01040	T	0.039342	0.25157	T	-0.472571	0.00819	T	-0.679924	0.06988	T	0.363287270069122	0.27538	T	0.337066	0.07816	T	0.13422662	0.31194	0.112491064	0.27144	0.13422662	0.31194	0.112491064	0.27143	-5.679	0.43506	T	.	.	0.134	0.28920	B	.;.	.;.	1.105597	0.14901	11.42	0.95442497820137684	0.26950	0.01357	0.04648	N	AEBI	0.038122	0.05348	N	-0.620888928728691	0.18317	0.9500372	-0.917231524689483	0.11688	0.5969714	0.0118636514083672	0.12247	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.749	-0.398	0.11800	-0.460000	0.06797	.	.	0.504000	0.22967	0.000000	0.06391	0.000000	0.08366	0.200000	0.21896	0.4123:0.0:0.2607:0.327	1.407	0.02145	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	9736.12	33	chr19	11867712	.	A	C	9736.12	.	AC=2;AF=0.1;AN=20;DP=588;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.97;QD=34.9;SOR=0.79	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1078	9	1	0	0
chr19	11904902	11904902	C	-	exonic	ZNF69	.	frameshift deletion	ZNF69:NM_001364730:exon4:c.505delC:p.P169Lfs*44,ZNF69:NM_001364731:exon4:c.463delC:p.P155Lfs*44	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5107.39	346	chr19	11904901	.	AC	A	5107.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.348;DP=672;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.036;QD=14.76;ReadPosRankSum=-0.973;SOR=0.516	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1133	9	0	1	0
chr19	11949256	11949256	T	G	exonic	ZNF700	.	nonsynonymous SNV	ZNF700:NM_001271848:exon4:c.T1241G:p.I414S,ZNF700:NM_144566:exon4:c.T1232G:p.I411S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00295440193811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.15406	T	0.072	0.43344	T	0.202	0.29746	B	0.122	0.32387	B	.	.	.	.	0.999999	0.25037	N	0.885	0.21608	L	3.03	0.08898	T	-0.19	0.09965	N	0.233	0.26233	-0.9746	0.36213	T	0.015	0.05994	T	9	0.09279549	0.16369	T	0.002954	0.06280	T	0.076	0.22200	0.569	0.69167	0.0551355673512	0.04727	0.01697358492499179	0.01652	0.0110904619344	0.01030	0.354834079742	0.18631	T	0.006371	0.05804	T	-0.295149	0.09126	T	-0.661738	0.08150	T	0.0918844201735657	0.11439	T	0.060394	0.00444	T	0.043982346	0.06951	0.049046073	0.07414	0.043982346	0.06950	0.049046073	0.07414	-4.272	0.27783	T	.	.	0.397	0.66012	A	.;.;.	.;.;.	-0.007791	0.04228	1.039	0.7109500214402954	0.09513	0.00000	0.00017	N	AEFDBHCI	0.022704	0.01168	N	-1.38489915699074	0.02779	0.1231968	-1.53222494551938	0.02101	0.09611428	0.0206977468918727	0.13282	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	0.672	-1.34	0.08665	-0.648000	0.05489	.	.	-0.417000	0.05242	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.1756:0.2247:0.5997	3.457	0.07087	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1312.43	38	chr19	11949256	.	T	G	1312.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.757;DP=449;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=0.348;SOR=0.781	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1265	9	0	1	0
chr19	12015504	12015504	A	G	exonic	ZNF433	.	nonsynonymous SNV	ZNF433:NM_001080411:exon4:c.T1363C:p.C455R,ZNF433:NM_001308348:exon4:c.T1354C:p.C452R,ZNF433:NM_001308346:exon5:c.T1360C:p.C454R,ZNF433:NM_001308355:exon5:c.T1258C:p.C420R,ZNF433:NM_001308357:exon5:c.T1258C:p.C420R,ZNF433:NM_001308351:exon6:c.T1258C:p.C420R	.	.	.	.	.	.	.	.	.	.	.	3634896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.00502484625534	.	.	8.277e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs776039130	3.078e-05	3.078e-05	2.859e-05	3.3e-05	0.0007	2.347e-05	2.095e-05	0.0002	0.0001	0	4.472e-05	0	0	0	0.0007	3.058e-05	6.623e-05	1.159e-05	2.635e-05	2.629e-05	2.574e-05	2.698e-05	0.0001	8.16e-06	5.15e-06	2.266e-05	9.09e-06	0	0	0.0001	0	0	0	0	2.942e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	0.999996	0.58761	D	3.72	0.94773	H	-2.05	0.85799	D	-11.41	0.99431	D	0.452	0.49511	0.614	0.92087	D	0.815	0.93751	D	9	0.70023286	0.72397	D	0.005025	0.12690	T	0.346	0.66769	0.641	0.77795	0.909186868059	0.90827	0.0717668096751873	0.07113	0.34301483754	0.36231	0.559039235115	0.47132	T	0.566547	0.85578	D	0.0451849	0.57722	T	-0.0900062	0.64160	T	0.99540376663208	0.87363	D	0.518148	0.16784	T	0.837258	0.86413	0.7794095	0.86993	0.837258	0.86414	0.7794095	0.86994	-8.705	0.69997	D	.	.	0.567	0.67488	P	.;.	.;.	2.991824	0.39941	21.1	0.99546446332219718	0.70836	0.39001	0.26114	N	AEFBHCI	0.424979	0.48993	N	0.379331126998933	0.60303	4.217819	0.0866898294093438	0.43876	2.680502	0.998239619263761	0.36618	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	1.18	1.18	0.20058	4.379000	0.59342	.	.	0.575000	0.29119	0.988000	0.36536	0.002000	0.18203	0.023000	0.12082	1.0:0.0:0.0:0.0	7.857	0.28647	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2096.43	34	chr19	12015504	.	A	G	2096.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.544;DP=465;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-0.692;SOR=0.892	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	9	0	1	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30759.7	133	chr19	12430730	.	A	*	30759.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.79;DP=1275;ExcessHet=0.3701;FS=0.587;InbreedingCoeff=0.1667;MLEAC=1;MLEAF=0.05;MQ=57.68;MQRankSum=-5.478;QD=28.56;ReadPosRankSum=-0.16;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:120:99:1|1:12430718_C_A:5399,5399,5399:12430718	9	0	1	0
chr19	12948357	12948357	G	T	exonic	RAD23A	.	nonsynonymous SNV	RAD23A:NM_001270362:exon3:c.G415T:p.G139C,RAD23A:NM_001270363:exon3:c.G415T:p.G139C,RAD23A:NM_005053:exon3:c.G415T:p.G139C	.	433	1088	1	0	0	1	0.000459348	0.9146	0.702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0194174586983	.	0.00179712	0.0004	0	0	0	0	3.115e-05	0	0.0043	0.0004657	72	154602	rs200506311	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0004	1.923e-05	0.0002	0.0032	0.0001	0.0001	6.426e-05	0.0001	0.0033	6.508e-05	5.32e-05	0.0021	0.0017	0	0	0	0	0	0	0	0	0	0.0033	0.148	0.24857	T	0.12	0.37173	T	0.987	0.61912	D	0.74	0.55692	P	0.000614	0.42945	D	0.206503	0.997307	0.81001	D	0.895	0.22405	L	2.21	0.18414	T	-1.86	0.43524	N	0.641	0.73015	-1.0895	0.05616	T	0.055	0.23224	T	10	0.011325091	0.00248	T	0.019417	0.41777	T	0.124	0.34239	0.324	0.30549	0.78743447906	0.78546	0.5885609993342256	0.58786	0.96515572476	0.73150	0.639250457287	0.58457	T	0.296653	0.66928	T	-0.310437	0.07709	T	-0.220488	0.52692	T	0.127707374012873	0.15168	T	0.728627	0.34859	T	0.20205094	0.42236	0.12369042	0.29823	0.20205094	0.42236	0.12369042	0.29822	-6.517	0.50417	T	.	.	0.164	0.36889	B	.;.;.	.;.;.	4.361528	0.67072	25.0	0.99564046101039161	0.71953	0.91426	0.53509	D	AEFBHCI	0.783811	0.71469	D	0.366119121013865	0.59596	4.140268	0.399187591842465	0.61513	4.352648	0.99999999947816	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.68	4.68	0.58319	3.921000	0.56166	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:0.0:1.0:0.0	13.108	0.58673	528	0.73785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	979.43	34	chr19	12948357	.	G	T	979.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.946;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.556;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1485:.	9	0	1	0
chr19	13207859	13207873	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6961_6975del:p.Q2321_Q2325del	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1687327	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs1260368899	0.0046	0.0044	0.0047	0.0046	0.0047	0.0045	0.0045	0.0046	0.0046	0.0034	0.0009	0.0060	0.0008	0.0123	0.0032	0.0047	0.0039	0.0027	0.0053	0.0053	0.0052	0.0054	0.0060	0.0050	0.0049	0.0055	0.0053	0.0037	0.0033	0.0037	0.0073	0.0004	0.0119	0.0072	0.0060	0.0020	0.0047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6884.28	34	chr19	13207858	.	CCTGCTGCTGCTGCTG	C	6884.28	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.56;DP=264;ExcessHet=0.0405;FS=5.034;InbreedingCoeff=0.375;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.38;ReadPosRankSum=0.327;SOR=1.111	GT:AD:DP:GQ:PL	0/0:0,0:13:48:537,533,530	9	0	1	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1875	263.11	49	chr19	13261453	.	C	T	263.11	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.237;DP=472;ExcessHet=0.7463;FS=167.371;InbreedingCoeff=-0.2237;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=0.963;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,25:68:99:.:.:245,0,583:.	5	0	3	2
chr19	13285126	13285126	C	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon21:c.G3637T:p.D1213Y,CACNA1A:NM_001127222:exon21:c.G3634T:p.D1212Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	426285	Developmental_and_epileptic_encephalopathy,_42|Episodic_ataxia_type_2|Spinocerebellar_ataxia_type_6|Migraine,_familial_hemiplegic,_1|Inborn_genetic_diseases|not_provided	MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086,Orphanet:98758|MONDO:MONDO:0020756,MedGen:C1832884,OMIM:141500,Orphanet:569|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.195	0.0476742013943	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201269793	2.326e-05	2.326e-05	2.314e-05	2.338e-05	8.944e-05	1.674e-05	1.477e-05	2.985e-05	1.804e-05	0	8.944e-05	0	0	0	0	2.698e-05	0	0	7.887e-05	7.88e-05	6.425e-05	9.416e-05	0.0006	4.498e-05	3.513e-05	0.0003	0.0002	0	0	0.0006	0	0	0	0	4.41e-05	0	0	0.008	0.58626	D	0.027	0.55341	D	.	.	.	.	.	.	0.819365	0.06874	N	1.098850	0.655486	0.33003	D	1.845	0.48678	L	1.28	0.35960	T	-4.9	0.81514	D	0.614	0.64563	-0.8976	0.48234	T	0.140	0.45941	T	10	0.19524652	0.35368	T	0.047674	0.63029	D	0.195	0.47612	0.238	0.16912	0.639976270493	0.63700	0.5619502930104315	0.56122	0.187512237378	0.21068	0.561688899994	0.47506	T	0.068971	0.33593	T	-0.260887	0.12797	T	-0.357476	0.38346	T	0.478609218957081	0.31846	T	0.947705	0.79824	D	0.19888611	0.41808	0.2130414	0.45798	0.19888611	0.41808	0.2130414	0.45797	-14.859	0.96437	D	0.22294043448666434	0.30087	0.213	0.51798	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.032265	0.59633	24.1	0.98587359988502632	0.43323	0.86537	0.45838	D	AEFDBHCI	0.506571	0.53724	D	0.400355355991355	0.61443	4.345404	0.414195229727383	0.62447	4.46038	0.0388051330761208	0.14364	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	4.92	4.92	0.64147	1.237000	0.32298	4.780000	0.44829	0.599000	0.40250	0.450000	0.26566	0.999000	0.35428	0.934000	0.47231	0.0:0.8172:0.0:0.1828	7.646	0.27488	923	0.18507	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	866.43	35	chr19	13285126	.	C	A	866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.124;DP=384;ExcessHet=0;FS=6.184;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=0.244;SOR=0.647	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1036	9	0	1	0
chr19	13298896	13298896	G	A	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon19:c.C2740T:p.P914S,CACNA1A:NM_001127222:exon19:c.C2737T:p.P913S	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	YES	133997	Inborn_genetic_diseases|not_provided|CACNA1A-related_disorder|Episodic_ataxia_type_2|Developmental_and_epileptic_encephalopathy,_42|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500,Orphanet:97|MONDO:MONDO:0014917,MedGen:C4310716,OMIM:617106|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.268	.	0.0058	0.0061901	0.0019	0.0286	0.0009	0.0001	0	2.083e-05	0.0017	7.488e-05	0.0014618	226	154602	rs16020	0.0006	0.0006	0.0007	0.0005	0.0215	0.0006	0.0006	0.0202	0.0197	0.0215	0.0008	0	0	0	0.0007	3.243e-05	0.0014	5.843e-05	0.0062	0.0062	0.0066	0.0058	0.0216	0.0059	0.0058	0.0204	0.0200	0.0216	0	0.0023	0	0	0	0.0034	7.35e-05	0.0047	0.0002	0.073	0.34800	T	0.899	0.03548	T	.	.	.	.	.	.	0.000000	0.00162	N	37.132800	1	0.08975	N	0.345	0.11182	N	-3.69	0.95317	D	-1.08	0.28084	N	0.049	0.02366	-0.2213	0.77117	T	0.406	0.75579	T	10	0.0057442784	0.00128	T	.	.	.	0.268	0.58254	.	.	0.701433802764	0.69885	0.4861409410844023	0.48534	1.10474106338	0.77854	0.753217101097	0.74922	T	0.026235	0.20004	T	-0.378581	0.03180	T	-0.299662	0.44760	T	0.00417597975361133	0.00044	T	0.865813	0.56549	D	0.10689364	0.25275	0.08029019	0.18149	0.106848985	0.25265	0.08381529	0.19236	-4.042	0.24430	T	.	.	0.079	0.19559	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.339482	0.29980	18.29	0.76031098517207896	0.11306	0.02191	0.06404	N	AEFDBI	0.047001	0.07866	N	-1.06651868995235	0.07267	0.3370809	-1.02772172087118	0.09178	0.4551633	0.0149148565773325	0.12653	0.700653	0.57754	0	0.573888	0.26702	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	4.22	3.18	0.35615	1.977000	0.40211	5.871000	0.50535	0.546000	0.25710	0.018000	0.19461	1.000000	0.68203	0.019000	0.11356	0.2058:0.0:0.7942:0.0	7.425	0.26266	929	0.16858	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003535	0.020408	0.001362	0.002941	0.000000	0.008621	0.000000	0.003788	0.05	606.43	35	chr19	13298896	.	G	A	606.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.404;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.84;ReadPosRankSum=-0.311;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,16:34:99:0|1:13298894_G_A:618,0,708:13298894	9	0	1	0
chr19	13819456	13819456	C	T	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_023072:exon9:c.C1673T:p.P558L,ZSWIM4:NM_001367834:exon10:c.C2024T:p.P675L	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	.	0.0052	0.00119808	0.0062	0.0010	0.0022	0.0002	0.0033	0.0102	0.0035	0.0007	0.0044954	695	154602	rs80004758	0.0059	0.0059	0.0061	0.0058	0.0070	0.0058	0.0058	0.0068	0.0068	0.0009	0.0024	0.0086	7.605e-05	0.0038	0.0049	0.0070	0.0045	0.0006	0.0041	0.0041	0.0040	0.0043	0.0069	0.0039	0.0038	0.0064	0.0061	0.0010	0	0.0033	0.0078	0	0.0032	0.0034	0.0069	0.0019	0.0008	0.036	0.43393	D	0.066	0.53788	T	0.56	0.38344	P	0.145	0.33871	B	0.038186	0.24313	N	0.278603	0.999946	0.51968	D	1.67	0.42885	L	0.95	0.43279	T	-4.61	0.79060	D	0.524	0.55366	-1.0415	0.16860	T	0.061	0.25492	T	10	0.008598864	0.00195	T	.	.	.	0.173	0.43840	.	.	0.432379865206	0.42856	0.5226925853693279	0.52192	0.61309136302	0.55890	0.593764662743	0.52025	T	0.212548	0.57363	T	-0.478577	0.00754	T	-0.455794	0.27058	T	0.0684627819465921	0.08434	T	0.980402	0.93314	D	0.13601625	0.31547	0.17891277	0.40592	0.13601625	0.31547	0.17891277	0.40591	-8.772	0.66217	D	.	.	0.115	0.24967	B	.;.	.;.	4.429057	0.68660	25.3	0.99744684289133723	0.83778	0.95780	0.66122	D	AEFDBI	0.766473	0.70264	D	0.192736198623042	0.50850	3.271183	0.237823797273816	0.51958	3.374195	0.999999735615527	0.74766	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.87	3.87	0.43823	7.578000	0.81790	5.791000	0.49870	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	13.410	0.60383	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.000000	0.005435	0.002924	0.000000	0.000000	0.012270	0.003788	0.05	884.43	37	chr19	13819456	.	C	T	884.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.92;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.391;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1021	9	0	1	0
chr19	13890276	13890276	G	T	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon5:c.C226A:p.P76T,C19orf57:NM_001345847:exon5:c.C226A:p.P76T,C19orf57:NM_001345843:exon6:c.C997A:p.P333T,C19orf57:NM_001345844:exon6:c.C997A:p.P333T,C19orf57:NM_024323:exon6:c.C580A:p.P194T	.	432	1066	22	2	0	26	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00222259260129	0.0025	0.00299521	0.0031	0.0004	0.0039	0	0.0006	0.0043	0	0.0024	0.0030401	470	154602	rs148701997	0.0037	0.0037	0.0037	0.0038	0.0068	0.0037	0.0036	0.0051	0.0045	0.0006	0.0046	0.0035	0	0.0003	0.0068	0.0042	0.0040	0.0022	0.0026	0.0026	0.0029	0.0022	0.0041	0.0024	0.0023	0.0037	0.0035	0.0007	0.0033	0.0035	0.0009	0.0002	9.411e-05	0.0034	0.0041	0.0047	0.0023	1.0	0.00964	T	1.0	0.01155	T	0.571	0.38591	P	0.118	0.32088	B	0.149035	0.02947	N	1.964930	1	0.08975	N	1.245	0.31408	L	1.54	0.30133	T	-0.22	0.10480	N	0.03	0.01911	-1.0669	0.10108	T	0.027	0.11663	T	10	0.005736828	0.00128	T	0.002223	0.04206	T	0.029	0.06676	.	.	0.0954503805726	0.09146	0.050621165920226106	0.05005	0.492064510921	0.47869	.	.	.	0.002431	0.01826	T	-0.679696	0.00048	T	-0.748159	0.03558	T	0.00320091885852061	0.00034	T	0.519848	0.16911	T	0.025641004	0.01525	0.037875064	0.03534	0.025641004	0.01524	0.037875064	0.03533	-3.629	0.18277	T	.	.	0.064	0.01810	B	.;.	.;.	0.306323	0.06816	3.341	0.41223039643330117	0.02960	0.01139	0.04132	N	AEFBI	0.039699	0.05802	N	-1.07992004097226	0.07014	0.3245773	-1.17551119598222	0.06320	0.3038937	0.00464940957536661	0.10654	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.34	-0.589	0.11097	-0.679000	0.05304	0.393000	0.17912	-0.272000	0.06708	0.000000	0.06391	0.053000	0.21875	0.040000	0.14268	0.5637:0.0:0.4363:0.0	6.327	0.20455	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.005435	0.000000	0.000000	0.000000	0.018293	0.007576	0.05	1740.43	37	chr19	13890276	.	G	T	1740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.474;DP=494;ExcessHet=0;FS=2.774;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.21;SOR=0.921	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr19	13890393	13890393	G	A	exonic	C19orf57	.	nonsynonymous SNV	C19orf57:NM_001345846:exon5:c.C109T:p.L37F,C19orf57:NM_001345847:exon5:c.C109T:p.L37F,C19orf57:NM_001345843:exon6:c.C880T:p.L294F,C19orf57:NM_001345844:exon6:c.C880T:p.L294F,C19orf57:NM_024323:exon6:c.C463T:p.L155F	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0046	0.00279553	0.0072	0.0015	0.0028	0	0.0040	0.0113	0.0026	0.0001	0.0064682	1000	154602	rs144502446	0.0070	0.0068	0.0071	0.0068	0.0078	0.0069	0.0068	0.0077	0.0076	0.0013	0.0030	0.0173	0	0.0051	0.0067	0.0078	0.0070	0.0002	0.0047	0.0047	0.0053	0.0042	0.0073	0.0044	0.0043	0.0068	0.0066	0.0013	0.0143	0.0041	0.0138	0	0.0026	0.0068	0.0073	0.0071	0.0004	0.604	0.05567	T	0.598	0.07999	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	1.67	0.27331	T	-1.19	0.30346	N	0.037	0.01825	-1.0658	0.10362	T	0.020	0.08220	T	9	0.0036529899	0.00067	T	.	.	.	0.011	0.01250	.	.	0.0297737177859	0.01360	0.012856665317013483	0.01244	0.0991058270923	0.11200	.	.	.	0.012156	0.10734	T	-0.780489	0.00011	T	-0.886219	0.00605	T	0.00558051398797225	0.00061	T	0.336666	0.07200	T	0.02566097	0.01529	0.0453923	0.06098	0.02566097	0.01529	0.0453923	0.06098	-5.561	0.42737	T	.	.	0.086	0.10497	B	.;.	.;.	-1.022119	0.00740	0.023	0.51180923202065431	0.04516	0.00471	0.02257	N	AEFBI	0.034124	0.04171	N	-2.10169368753845	0.00127	0.005439932	-2.21224444178932	0.00105	0.004618754	0.997728130125674	0.35952	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.65	-5.29	0.02535	-4.629000	0.00238	-2.031000	0.04317	-3.274000	0.00101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.2127:0.323:0.2083	0.575	0.00656	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.005051	0.010870	0.005848	0.000000	0.017241	0.003049	0.000000	0.05	784.43	37	chr19	13890393	.	G	A	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=401;ExcessHet=0;FS=3.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.534;SOR=1.179	GT:AD:DP:GQ:PL	0/1:32,28:60:99:796,0,739	9	0	1	0
chr19	13934294	13934294	G	A	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001146254:exon6:c.C626T:p.P209L,PODNL1:NM_001370095:exon6:c.C632T:p.P211L,PODNL1:NM_024825:exon6:c.C611T:p.P204L	.	423	1090	9	0	0	9	0.00411147	.	.	.	3463898	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0408230760106	.	.	8.16e-05	0.0002	0	0	0	0	0.004	0.0006	2.59e-05	4	154602	rs777679884	1.661e-05	1.915e-05	1.136e-05	2.204e-05	0.0001	1.106e-05	9.24e-06	8.264e-05	6.414e-05	0	0	0	0	0	0	1.115e-05	0	0.0001	3.285e-05	3.283e-05	2.569e-05	4.035e-05	7.239e-05	1.261e-05	7.98e-06	1.92e-05	1.032e-05	7.239e-05	0	6.545e-05	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.012	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000391	0.44960	D	0.000000	0.999914	0.81001	D	3.19	0.88972	M	1.9	0.32238	T	-7.27	0.95455	D	0.468	0.53445	-0.2197	0.77159	T	0.294	0.66602	T	10	0.64301467	0.69166	D	0.040823	0.59591	D	0.301	0.62179	0.359	0.36222	0.515715180578	0.51213	0.5058954073958112	0.50511	0.835004575118	0.67782	0.610998153687	0.54457	T	0.129637	0.45804	T	-0.187087	0.22688	T	-0.199098	0.54732	T	0.983963668346405	0.75439	D	0.876112	0.59977	D	0.78351694	0.82870	0.81243515	0.89055	0.78351694	0.82872	0.81243515	0.89056	-13.792	0.92536	D	.	.	0.292	0.56091	B	.;.;.;.;.	.;.;.;.;.	5.033582	0.83731	28.1	0.99906746876083963	0.97726	0.95236	0.63943	D	AEFDBHCI	0.869602	0.79021	D	0.890537474875987	0.91288	10.80841	0.781644438141896	0.88487	9.601435	0.999999988990375	0.74766	0.403107	0.06075	0	0.514364	0.08380	0	0.298653	0.05632	1	0.562822	0.20929	0	.	.	5.35	5.35	0.76297	4.237000	0.58477	11.500000	0.92961	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.486000	0.28701	0.0:0.0:1.0:0.0	15.954	0.79650	934	0.15400	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001038	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.05	874.43	36	chr19	13934294	.	G	A	874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.021;DP=420;ExcessHet=0;FS=2.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-1.226;SOR=0.861	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr19	13937915	13937915	A	G	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001146254:exon2:c.T110C:p.L37S,PODNL1:NM_001146255:exon2:c.T110C:p.L37S,PODNL1:NM_001370095:exon2:c.T116C:p.L39S,PODNL1:NM_024825:exon2:c.T95C:p.L32S	.	383	1088	48	3	0	54	0.0242152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0053	0.00778754	0.0086	0.0173	0.0039	0	0	0.0039	0	0.0135	0.0030401	470	154602	rs138002759	0.0023	0.0023	0.0020	0.0026	0.0167	0.0022	0.0022	0.0146	0.0141	0.0157	0.0030	0.0050	8.078e-05	0.0001	0.0167	0.0011	0.0038	0.0121	0.0056	0.0056	0.0057	0.0055	0.0142	0.0053	0.0052	0.0133	0.0129	0.0142	0	0.0046	0.0052	0	0	0.0136	0.0016	0.0033	0.0106	0.53	0.07025	T	0.854	0.05292	T	0.001	0.07471	B	0.001	0.04355	B	0.224036	0.16071	N	0.520751	1	0.21303	N	-1.445	0.00556	N	0.8	0.90451	T	1.09	0.02721	N	0.122	0.11340	-1.0197	0.23812	T	0.015	0.06138	T	10	0.0027478933	0.00043	T	.	.	.	0.037	0.09474	.	.	0.327686398923	0.32377	0.43842433421110827	0.43759	0.301711307818	0.32506	0.636624932289	0.58085	T	0.001701	0.01130	T	-0.520466	0.00437	T	-0.508713	0.21448	T	0.000207637940343668	0.00001	T	0.159184	0.01637	T	0.023944188	0.01178	0.039862506	0.04177	0.023944188	0.01178	0.039862506	0.04176	-3.872	0.21884	T	.	.	0.055	0.06756	B	.;.;.;.;.;.	.;.;.;.;.;.	0.792610	0.11628	8.217	0.63685854503355543	0.07290	0.00089	0.00592	N	AEFDBHI	0.040439	0.06014	N	-1.43840650099168	0.02309	0.1018238	-1.33528064533313	0.03982	0.1869006	0.999649798510355	0.41316	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.620976	0.48614	0	.	.	4.68	1.19	0.20120	0.054000	0.14087	0.377000	0.17739	-0.171000	0.11205	0.217000	0.24502	0.008000	0.19753	0.202000	0.21954	0.332:0.1387:0.3877:0.1415	1.436	0.02202	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008180	0.010417	0.011050	0.008982	0.050000	0.000000	0.009434	0.003817	0.05	906.43	35	chr19	13937915	.	A	G	906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.783;DP=424;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.042;SOR=0.805	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,101,1033	9	0	1	0
chr19	13963629	13963629	C	T	exonic	RFX1	.	nonsynonymous SNV	RFX1:NM_002918:exon18:c.G2479A:p.G827S	.	382	1136	4	0	0	4	0.00175747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.00736238725974	0.0023	0.000998403	0.0019	0.0004	0.0004	0.0009	0.0013	0.0031	0	0.0002	0.0014036	217	154602	rs147242039	0.0018	0.0018	0.0018	0.0018	0.0040	0.0017	0.0017	0.0027	0.0023	0.0005	0.0008	0.0029	0.0004	0.0014	0.0040	0.0020	0.0021	0.0002	0.0015	0.0015	0.0016	0.0014	0.0024	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0015	0.0020	0.0004	0.0017	0.0034	0.0024	0.0028	0	0.734	0.03764	T	0.686	0.05995	T	0.107	0.26081	B	0.044	0.24394	B	0.000000	0.84330	D	0.050264	0.999339	0.46701	D	-0.065	0.04868	N	1.27	0.36146	T	-1.48	0.36189	N	0.159	0.16586	-1.0588	0.12058	T	0.037	0.16160	T	10	0.007933676	0.00180	T	0.007362	0.19523	T	0.134	0.36365	.	.	0.0675242888579	0.06100	0.4885811683913005	0.48778	1.13632118652	0.78799	0.461911380291	0.33573	T	0.138134	0.47145	T	-0.497451	0.00591	T	-0.493188	0.23058	T	0.0197417471307011	0.00676	T	0.910709	0.68343	D	0.282156	0.51255	0.23849182	0.49173	0.282156	0.51254	0.23849182	0.49172	-2.967	0.09830	T	.	.	0.075	0.05404	B	.	.	3.431726	0.47700	22.5	0.99086576950421479	0.52100	0.48510	0.28223	N	AEFDBCI	0.386394	0.46677	N	-0.440972605028472	0.24046	1.295702	-0.201870427470649	0.31469	1.781234	0.999999999914542	0.74766	0.72623	0.87236	0	0.643519	0.57511	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	5.33	5.33	0.75683	1.284000	0.32855	4.851000	0.45376	0.498000	0.22619	0.777000	0.29437	1.000000	0.68203	0.997000	0.79791	0.0:0.915:0.0:0.085	11.373	0.48949	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009100	0.005155	0.004087	0.026471	0.000000	0.017241	0.006135	0.003788	0.05	748.43	36	chr19	13963629	.	C	T	748.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.307;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.885;SOR=0.721	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1141	9	0	1	0
chr19	14695076	14695076	C	G	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon3:c.C70G:p.R24G,ZNF333:NM_001352244:exon3:c.C70G:p.R24G,ZNF333:NM_032433:exon3:c.C70G:p.R24G	.	428	1071	22	1	0	24	0.0110803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0048	0.00179712	0.0051	0.0012	0.0030	0	0.0012	0.0070	0.0044	0.0059	0.0050064	774	154602	rs61995698	0.0054	0.0054	0.0052	0.0056	0.0069	0.0053	0.0052	0.0062	0.0060	0.0009	0.0024	0.0217	0	0.0016	0.0069	0.0055	0.0063	0.0066	0.0037	0.0037	0.0040	0.0035	0.0056	0.0035	0.0034	0.0051	0.0049	0.0008	0.0066	0.0019	0.0219	0	0.0010	0.0034	0.0055	0.0057	0.0056	0.063	0.36709	T	0.323	0.62352	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.755	0.19153	N	4.6	0.01868	T	-0.34	0.12661	N	0.203	0.46086	-0.9369	0.43103	T	0.005	0.01651	T	9	0.0104111135	0.00232	T	.	.	.	0.026	0.05648	.	.	0.0611884634855	0.05136	0.17252882160459376	0.17172	0.385318713924	0.39823	0.195522025228	0.00338	T	0.00122	0.00717	T	-0.602352	0.00141	T	-0.635401	0.10008	T	0.0053354593183709	0.00058	T	0.844016	0.52772	T	0.040952135	0.05941	0.041216798	0.04634	0.040952135	0.05941	0.041216798	0.04634	-5.228	0.39225	T	.	.	0.185	0.56258	B	.;.;.	.;.;.	0.208017	0.05921	2.359	0.94935240856241476	0.25824	0.04830	0.10558	N	AEFDBHCI	0.041360	0.06278	N	-1.22139540723132	0.04691	0.2122363	-1.36471555759378	0.03635	0.1699831	0.00137244476311614	0.08487	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.636168	0.56350	0	.	.	2.24	-2.75	0.05564	-0.126000	0.10539	.	.	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3614:0.2075:0.4311	3.484	0.07175	952	0.10565	.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.009146	0.003788	0.05	892.43	35	chr19	14695076	.	C	G	892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=444;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.44;SOR=0.848	GT:AD:DP:GQ:PL	0/1:51,37:88:99:904,0,1191	9	0	1	0
chr19	14827916	14827916	C	T	exonic	OR7A5	.	nonsynonymous SNV	OR7A5:NM_017506:exon2:c.G326A:p.G109E,OR7A5:NM_001370480:exon3:c.G326A:p.G109E,OR7A5:NM_001370482:exon3:c.G326A:p.G109E,OR7A5:NM_001370483:exon3:c.G326A:p.G109E,OR7A5:NM_001370481:exon4:c.G326A:p.G109E	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0047	0.00179712	0.0034	0.0016	0.0010	0	0.0113	0.0042	0.0011	0.0017	0.0034928	540	154602	rs151164893	0.0050	0.0050	0.0052	0.0048	0.0056	0.0049	0.0049	0.0055	0.0054	0.0006	0.0009	0	0	0.0115	0.0012	0.0056	0.0043	0.0020	0.0035	0.0035	0.0034	0.0037	0.0044	0.0033	0.0032	0.0040	0.0038	0.0013	0.0011	0.0012	0	0	0.0143	0	0.0044	0.0009	0.0021	0.34	0.12714	T	0.291	0.20944	T	0.002	0.09854	B	0.007	0.12992	B	0.015875	0.01427	N	6.110550	1	0.08975	N	2.65	0.77586	M	3.52	0.04905	T	-3.01	0.62518	D	0.074	0.04790	-0.9832	0.34258	T	0.012	0.04700	T	10	0.005552739	0.00123	T	.	.	.	0.028	0.06331	.	.	0.303453137403	0.29957	0.4307170442688907	0.42988	0.0652125274148	0.07282	0.17109797895	0.00036	T	0.011802	0.10480	T	-0.646957	0.00075	T	-0.699474	0.05855	T	0.0240240720208212	0.01148	T	0.337566	0.07230	T	0.105336525	0.24904	0.11635654	0.28090	0.105336525	0.24904	0.11635654	0.28089	-6.912	0.53388	T	.	.	0.259	0.49412	B	.;.	.;.	-1.239253	0.00493	0.011	0.44122356033848198	0.03370	0.00866	0.03436	N	AEFBI	0.066614	0.13055	N	-1.83313438440145	0.00469	0.02018344	-2.00840549909386	0.00294	0.01298251	0.0954768510885733	0.16228	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.13	-6.26	0.01856	-4.005000	0.00356	.	.	-1.999000	0.00450	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3036:0.1885:0.3399:0.168	1.339	0.02020	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2410.43	38	chr19	14827916	.	C	T	2410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.225;DP=532;ExcessHet=0;FS=6.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.924;SOR=0.977	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,108,1620	9	0	1	0
chr19	14952972	14952972	C	G	exonic	SLC1A6	.	nonsynonymous SNV	SLC1A6:NM_001384669:exon9:c.G1455C:p.L485F,SLC1A6:NM_005071:exon9:c.G1455C:p.L485F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.122696587035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.01	0.65728	D	0.995	0.90584	D	0.885	0.92359	P	0.000001	0.84330	D	0.000000	0.99997	0.53665	D	3.175	0.88760	M	-0.04	0.63240	T	-3.69	0.70674	D	0.873	0.87049	-0.3727	0.72879	T	0.384	0.74002	T	10	0.8845182	0.87774	D	0.122697	0.80372	D	0.452	0.75211	0.831	0.94042	0.629396092934	0.62636	0.9816604799376272	0.98158	1.67296278305	0.89877	0.867198467255	0.92164	D	0.110645	0.88082	T	0.0921078	0.63427	D	-0.10547	0.62970	T	0.975513935089111	0.70968	D	0.983202	0.94289	D	0.382367	0.59487	0.27660137	0.53606	0.382367	0.59488	0.27660137	0.53605	-11.433	0.81979	D	.	.	0.952	0.88195	P	.;.;.	.;.;.	3.649608	0.51790	23.1	0.99854234902361871	0.93279	0.77007	0.37817	D	AEFDBI	0.266611	0.38349	N	0.453894669651976	0.64423	4.696683	0.342383057947675	0.58050	3.973451	1.92610476560303E-4	0.05898	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.41	2.1	0.26226	0.825000	0.27047	.	.	0.510000	0.23265	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1807:0.5423:0.1753:0.1017	2.894	0.05336	976	0.04745	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	3151.43	45	chr19	14952972	.	C	G	3151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.098;DP=623;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.561;SOR=0.693	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1211	9	0	1	0
chr19	15372978	15372978	G	A	exonic	AKAP8	.	nonsynonymous SNV	AKAP8:NM_005858:exon5:c.C734T:p.P245L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.098938575206	.	.	3.337e-05	0	0	0	0	0	0.0017	0.0002	3.23e-05	5	154602	rs774386640	2.408e-05	3.283e-05	6.997e-06	4.159e-05	0.0003	1.733e-05	1.53e-05	0.0002	0.0002	0	2.616e-05	0	0	1.982e-05	0.0002	3.68e-06	0	0.0003	1.97e-05	1.969e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.997	0.86255	D	0.000058	0.53742	D	0.000000	1	0.81001	D	2.255	0.64187	M	-0.11	0.64445	T	-1.97	0.45587	N	0.565	0.58883	-0.1520	0.78867	T	0.416	0.76292	T	10	0.52828854	0.63036	D	0.098939	0.77025	D	0.196	0.47777	0.229	0.15556	0.618175850084	0.61509	0.4913953343680154	0.49060	0.490765636778	0.47787	0.428801476955	0.29045	T	0.434456	0.78153	T	-0.213946	0.18827	T	-0.228939	0.51873	T	0.350140444676526	0.27024	T	0.838216	0.51127	T	0.23907952	0.46794	0.27562323	0.53500	0.23907952	0.46794	0.27562323	0.53499	-7.297	0.56174	T	.	.	0.117	0.23848	B	.	.	5.004690	0.83070	27.9	0.99855136497786934	0.93368	0.86912	0.46301	D	AEFDBCI	0.388636	0.46817	N	0.497309583088427	0.66931	5.014688	0.366046253725354	0.59480	4.126224	0.997171614148199	0.35344	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.71	4.71	0.59010	5.806000	0.68817	.	.	0.674000	0.70861	0.999000	0.42656	1.000000	0.68203	0.524000	0.29567	0.0:0.0:1.0:0.0	15.065	0.71654	656	0.62345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001010	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	703.43	33	chr19	15372978	.	G	A	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.071;DP=387;ExcessHet=0;FS=1.892;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.366;SOR=0.951	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	9	0	1	0
chr19	15440453	15440453	G	A	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.C541T:p.R181C	.	616	905	1	0	0	1	0.000552181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00597420066654	.	.	.	.	.	.	.	.	.	.	.	.	.	rs891524314	1.301e-05	1.231e-05	1.569e-05	1.025e-05	0.0002	8.13e-06	6.71e-06	1.678e-05	9.94e-06	0	0	3.971e-05	0	0	0.0002	9.269e-06	3.454e-05	5.048e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707913	0.10038	N	0.826016	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9218	0.45307	T	0.010	0.03582	T	7	0.11376575	0.21383	T	0.005974	0.15579	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13644	B	.	.	2.174325	0.27707	17.55	0.98882872628573015	0.47859	0.01343	0.04616	N	AEFDBI	0.089041	0.18049	N	-0.565746638321631	0.19992	1.05066	-0.67171260657054	0.17670	0.9405706	4.91132086973205E-5	0.03989	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	5.23	2.84	0.32241	0.794000	0.26619	.	.	-0.722000	0.03793	0.033000	0.20612	1.000000	0.68203	0.002000	0.04165	0.1008:0.0:0.656:0.2432	5.451	0.15863	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	35.2	2	chr19	15440453	.	G	A	35.2	.	AC=2;AF=0.125;AN=16;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;QD=17.6;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,65	7	1	0	2
chr19	15647244	15647244	C	T	exonic	CYP4F3	.	nonsynonymous SNV	CYP4F3:NM_001369696:exon4:c.C445T:p.R149W,CYP4F3:NM_000896:exon5:c.C445T:p.R149W,CYP4F3:NM_001199208:exon5:c.C445T:p.R149W,CYP4F3:NM_001199209:exon5:c.C445T:p.R149W	.	389	1132	1	0	0	1	0.000441501	.	.	.	3654908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.765	0.249841670851	7.7e-05	0.000199681	4.118e-05	9.61e-05	8.637e-05	0	0	4.495e-05	0	0	3.88e-05	6	154602	rs143175634	5.199e-05	5.199e-05	4.356e-05	6.05e-05	0.0002	4.258e-05	3.888e-05	4.358e-05	3.657e-05	0.0001	0.0001	0	7.557e-05	0	0.0002	5.126e-05	8.279e-05	1.159e-05	4.595e-05	4.593e-05	7.708e-05	1.342e-05	9.621e-05	2.107e-05	1.526e-05	3.242e-05	1.91e-05	9.621e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.014	0.62352	D	0.738	0.42905	P	0.431	0.45421	B	0.000007	0.62929	U	0.000000	0.999999	0.58761	D	4.295	0.98240	H	-1.56	0.81815	D	-6.31	0.90812	D	0.628	0.65074	0.413	0.89291	D	0.615	0.86389	D	10	0.91011107	0.90375	D	0.249842	0.89067	D	0.765	0.92046	.	.	0.842280437902	0.84077	0.6855717677047924	0.68497	0.124666510737	0.14042	0.383934378624	0.22813	T	0.321105	0.69224	T	0.139261	0.68255	D	0.231562	0.84744	D	0.965765714645386	0.67369	D	0.989101	0.96368	D	0.9029198	0.91646	0.8651175	0.92530	0.9029198	0.91647	0.8651175	0.92530	-8.026	0.61410	D	.	.	0.213	0.45396	B	.;.;.;.	.;.;.;.	3.455510	0.48139	22.6	0.99783081970925225	0.86955	0.82287	0.41537	D	AEFDBI	0.752785	0.69318	D	0.300295036542769	0.56165	3.780779	0.225430976094757	0.51261	3.310321	0.458522545423958	0.20603	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.4	3.4	0.38031	2.348000	0.43701	.	.	0.549000	0.26987	0.400000	0.26170	0.002000	0.18203	0.986000	0.61781	0.0:1.0:0.0:0.0	12.305	0.54216	929	0.16858	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2172.43	168	chr19	15647244	.	C	T	2172.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=522;ExcessHet=0;FS=2.71;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=0.478;QD=12.93;ReadPosRankSum=0.512;SOR=0.508	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr19	15807802	15807802	G	A	exonic	OR10H1	.	nonsynonymous SNV	OR10H1:NM_013940:exon1:c.C236T:p.P79L	.	424	1096	2	0	0	2	0.000911577	.	.	.	3574091	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.467	0.0137008403364	0.0002	.	0.0001	0	0	0.0001	0	8.053e-05	0	0.0005	0.0001229	19	154602	rs369544216	6.052e-05	6.02e-05	3.553e-05	8.585e-05	0.0004	4.988e-05	4.651e-05	0.0002	0.0002	0	0	3.868e-05	5.044e-05	0	0.0004	4.34e-05	9.986e-05	0.0003	2.629e-05	2.627e-05	3.855e-05	1.346e-05	6.549e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	6.549e-05	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.953	0.69275	D	0.000141	0.49130	D	0.000000	1	0.81001	D	3.65	0.94181	H	1.78	0.25678	T	-9.82	0.98684	D	0.963	0.97317	-0.2838	0.75437	T	0.246	0.61495	T	10	0.88470393	0.87793	D	0.013701	0.33301	T	0.467	0.76222	.	.	0.676708332946	0.67396	.	.	1.40817712881	0.85376	0.303865611553	0.10980	T	0.02616	0.19414	T	-0.0704798	0.41250	T	-0.0315992	0.68262	D	0.995269358158112	0.87117	D	0.908309	0.67561	D	0.8307742	0.85956	0.6929018	0.81925	0.8307742	0.85958	0.6929018	0.81926	-10.362	0.76050	D	.	.	0.608	0.71233	P	.;.	.;.	4.620077	0.73354	26.0	0.9990239879319327	0.97426	0.99344	0.94786	D	AEFGBI	0.761687	0.69933	D	0.892689815611404	0.91396	10.86303	0.762809365721193	0.87111	9.110633	0.999983696520051	0.51787	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	9.155000	0.93856	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0:0.0:1.0:0.0	15.153	0.72401	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000530	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3278.43	38	chr19	15807802	.	G	A	3278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.176;DP=984;ExcessHet=0;FS=2.173;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.09;MQRankSum=1.31;QD=13.55;ReadPosRankSum=-0.28;SOR=0.696	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,99,1485	9	0	1	0
chr19	15886299	15886299	C	T	exonic	CYP4F2	.	nonsynonymous SNV	CYP4F2:NM_001082:exon8:c.G928A:p.G310R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.0495286203251	.	.	6.592e-05	9.614e-05	0	0.0008	0	0	0	0	5.17e-05	8	154602	rs754533672	3.352e-05	3.352e-05	3.403e-05	3.3e-05	0.0007	2.566e-05	2.312e-05	0.0005	0.0004	0.0002	0	0	0.0007	0	0	1.259e-05	1.656e-05	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.981	0.75168	D	0.006607	0.31916	U	0.194761	0.999971	0.81001	D	3.625	0.93960	H	-0.53	0.70833	T	-7.29	0.94457	D	0.665	0.67391	0.249	0.86728	D	0.561	0.84003	D	10	0.7260611	0.73981	D	0.049529	0.63850	D	0.442	0.74518	0.506	0.60078	0.867009118844	0.86571	0.41598202362211645	0.41514	0.722711852425	0.62306	0.65931648016	0.61312	T	0.257931	0.62903	T	-0.134062	0.30840	T	-0.110337	0.62584	T	0.983151435852051	0.74927	D	0.867413	0.74741	D	0.7533006	0.81060	0.8061137	0.88654	0.7533006	0.81062	0.8061137	0.88655	-9.527	0.71026	D	.	.	0.248	0.48219	B	.;.	.;.	4.247477	0.64452	24.7	0.99846428839127466	0.92663	0.97840	0.77522	D	AEFBI	0.797192	0.72410	D	0.449209279067	0.64158	4.664179	0.242482305621895	0.52223	3.398575	0.101062082911926	0.16369	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.73	2.73	0.31266	6.322000	0.72847	.	.	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.660000	0.32968	0.0:1.0:0.0:0.0	11.180	0.47847	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	859.43	79	chr19	15886299	.	C	T	859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=779;ExcessHet=0;FS=11.359;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-3.182;SOR=0.146	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	9	0	1	0
chr19	15934266	15934266	A	T	exonic	CYP4F11	.	nonsynonymous SNV	CYP4F11:NM_021187:exon1:c.T143A:p.L48H,CYP4F11:NM_001128932:exon2:c.T143A:p.L48H	.	408	1080	31	3	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	.	0.0028	0.00299521	0.0046	0.0006	0.0018	0	0.0006	0.0044	0.0099	0.0135	0.0041979	649	154602	rs144570608	0.0046	0.0046	0.0042	0.0050	0.0144	0.0045	0.0044	0.0132	0.0129	0.0007	0.0019	0.0031	2.519e-05	0.0007	0.0144	0.0044	0.0052	0.0138	0.0029	0.0030	0.0031	0.0028	0.0108	0.0027	0.0026	0.0085	0.0076	0.0008	0.0055	0.0021	0.0038	0	0.0005	0.0137	0.0044	0.0024	0.0108	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.036421	0.24525	U	0.316936	1	0.08975	N	3.755	0.95055	H	-4.34	0.97267	D	-5.28	0.88839	D	0.526	0.55540	0.437	0.89649	D	0.876	0.95898	D	10	0.005805701	0.00130	T	.	.	.	0.346	0.66769	.	.	0.542187413537	0.53871	0.7430607826194562	0.74252	0.220839230322	0.24634	0.446682691574	0.31490	T	0.428567	0.77766	T	-0.13998	0.29893	T	0.0253141	0.71974	D	0.119659566035645	0.14397	T	0.911709	0.68863	D	0.23202594	0.45984	0.27280214	0.53194	0.23202594	0.45984	0.27280214	0.53193	-14.393	0.94264	D	.	.	0.622	0.69767	P	.;.;.;.	.;.;.;.	3.131093	0.42311	21.5	0.97493538681267755	0.34256	0.34168	0.25003	N	AEFDBCI	0.268574	0.38504	N	-0.0686690424743155	0.38772	2.276047	-0.331987048678435	0.27071	1.499678	0.998000120437217	0.36301	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.18	1.15	0.19876	2.134000	0.41725	.	.	0.584000	0.30380	0.017000	0.19353	1.000000	0.68203	0.001000	0.02609	0.8435:0.0:0.1565:0.0	5.460	0.15909	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.004076	0.014620	0.000000	0.017241	0.015244	0.007576	0.05	1068.43	46	chr19	15934266	.	A	T	1068.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.282;DP=454;ExcessHet=0;FS=2.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.09;ReadPosRankSum=-0.877;SOR=0.651	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1217	9	0	1	0
chr19	16154571	16154571	G	T	exonic	HSH2D	.	nonsynonymous SNV	HSH2D:NM_001369809:exon5:c.G502T:p.A168S	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs188868946	0.0003	0.0003	0.0003	0.0004	0.0020	0.0003	0.0003	0.0010	0.0007	0	0.0003	0	0	0	0.0020	0.0004	0.0004	0.0004	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0002	0.0003	0.0003	0	0	0.0003	0	0	0	0	0.0004	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	532.43	27	chr19	16154571	.	G	T	532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.318;DP=336;ExcessHet=0;FS=1.141;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.166;SOR=0.513	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	9	0	1	0
chr19	16157610	16157610	A	G	exonic	HSH2D	.	nonsynonymous SNV	HSH2D:NM_001369808:exon6:c.A800G:p.K267R,HSH2D:NM_001382417:exon6:c.A875G:p.K292R,HSH2D:NM_032855:exon8:c.A875G:p.K292R	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00300081724648	0.0046	0.00119808	0.0039	0.0009	0.0010	0	0.0014	0.0058	0.0034	0.0031	0.0038357	593	154602	rs199804128	0.0047	0.0047	0.0047	0.0048	0.0120	0.0046	0.0046	0.0097	0.0089	0.0005	0.0015	0.0039	0	0.0023	0.0120	0.0053	0.0042	0.0040	0.0041	0.0041	0.0044	0.0039	0.0072	0.0039	0.0038	0.0067	0.0065	0.0008	0	0.0030	0.0035	0.0002	0.0024	0.0102	0.0072	0.0024	0.0027	.	.	.	0.513	0.10714	T	0.014	0.16867	B	0.004	0.10090	B	0.040388	0.01877	N	2.147890	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.076	0.05037	-1.0694	0.09545	T	0.057	0.23942	T	9	0.0037436783	0.00070	T	0.003001	0.06427	T	.	.	.	.	0.482574385019	0.47888	0.08723493134161577	0.08656	.	.	0.319280058146	0.13311	T	0.087332	0.37919	T	-0.648595	0.00074	T	-0.697331	0.05973	T	0.00116073254836227	0.00011	T	0.382662	0.09313	T	0.04141958	0.06096	0.038501974	0.03732	0.04141958	0.06096	0.038501974	0.03731	-2.71	0.07387	T	.	.	0.086	0.10594	B	.;.	.;.	0.825531	0.11971	8.528	0.90479400204510996	0.19737	0.21305	0.21354	N	AEFDBHCI	0.037032	0.05029	N	-0.949049384628444	0.09713	0.4609599	-1.01892541169492	0.09369	0.4657339	0.962544551025244	0.28630	0.631515	0.41029	0	0.697927	0.68747	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	3.5	0.289	0.14974	0.990000	0.29242	0.166000	0.15462	-0.050000	0.17177	0.091000	0.22601	0.000000	0.08366	0.076000	0.17014	0.6544:0.0:0.3456:0.0	5.909	0.18258	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.025253	0.012228	0.023392	0.050000	0.017241	0.003049	0.000000	0.05	1000.43	35	chr19	16157610	.	A	G	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.355;DP=419;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.44;ReadPosRankSum=0.901;SOR=0.597	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr19	16164746	16164746	T	C	exonic	CIB3	.	nonsynonymous SNV	CIB3:NM_001300922:exon3:c.A367G:p.M123V,CIB3:NM_054113:exon5:c.A514G:p.M172V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.0644180049562	.	.	8.243e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs760914092	6.157e-06	6.156e-06	5.445e-06	6.875e-06	0.0002	2.9e-06	2.1e-06	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.597e-06	4.967e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.015	0.17086	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-0.57	0.71307	T	-0.07	0.08033	N	0.64	0.65245	-0.9150	0.46220	T	0.153	0.48326	T	10	0.31901783	0.49294	T	0.064418	0.69272	D	0.402	0.71558	0.536	0.64585	0.594339124078	0.59111	0.8646875505138758	0.86432	0.302698484363	0.32595	0.622470021248	0.56078	T	0.106514	0.41792	T	0.18397	0.72406	D	0.123338	0.78456	D	0.648940920829773	0.38417	D	0.940406	0.77539	D	0.27048913	0.50121	0.23100002	0.48219	0.27048913	0.50120	0.23100002	0.48218	-3.098	0.11273	T	.	.	0.192	0.41171	B	.;.	.;.	2.412780	0.31014	18.61	0.29451352984000628	0.01563	0.96008	0.67117	D	AEFI	0.745432	0.68811	D	-0.394328254209281	0.25670	1.395235	-0.185207648157864	0.32078	1.821561	0.999996831123112	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	6.014000	0.70438	5.042000	0.46920	0.645000	0.52629	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	13.776	0.62538	976	0.04745	EF-hand domain|EF-hand domain|EF-hand domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	4309.12	90	chr19	16164746	.	T	C	4309.12	.	AC=2;AF=0.1;AN=20;DP=816;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.13;SOR=1.345	GT:AD:DP:GQ:PL	0/0:60,0:60:99:0,120,1800	9	1	0	0
chr19	16736665	16736665	T	C	exonic	NWD1	.	nonsynonymous SNV	NWD1:NM_001007525:exon4:c.T113C:p.I38T	.	423	1071	27	1	0	29	0.0133579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.00658946	0.0144	0.0017	0	0	0.0188	0.0108	0.0109	0.0172	0.0030013	464	154602	rs117353506	0.0103	0.0098	0.0101	0.0106	0.0166	0.0102	0.0101	0.0158	0.0155	0.0016	0.0033	0.0147	0.0008	0.0178	0.0104	0.0104	0.0090	0.0166	0.0078	0.0078	0.0077	0.0080	0.0155	0.0075	0.0073	0.0127	0.0117	0.0017	0	0.0039	0.0118	0	0.0175	0.0068	0.0110	0.0028	0.0155	0.579	0.06779	T	0.616	0.07543	T	0.0	0.02946	B	0.001	0.04355	B	0.433353	0.04717	N	1.357460	1	0.08975	N	-1.445	0.00556	N	2.1	0.19990	T	1.27	0.00985	N	0.031	0.01658	-0.9820	0.34538	T	0.009	0.03448	T	10	0.0031747222	0.00053	T	.	.	.	0.020	0.03691	.	.	.	.	0.11415311732290649	0.11343	0.182636527527	0.20529	0.348507583141	0.17702	T	4.5E-4	0.00158	T	-0.776052	0.00012	T	-0.873896	0.00706	T	3.4540116757853e-05	0.00000	T	0.212579	0.02598	T	0.02336708	0.01070	0.0443684	0.05732	0.02336708	0.01070	0.0443684	0.05732	-1.137	0.01165	T	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-0.012211	0.04199	1.022	0.37945950114817406	0.02530	0.00191	0.01107	N	AEFGBI	0.014931	0.00259	N	-1.47867275774287	0.02001	0.08791167	-1.408386698553	0.03168	0.1472257	0.00454810159913068	0.10609	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	-2.14	0.06725	-0.053000	0.11802	-0.037000	0.12718	-1.433000	0.01113	0.000000	0.06391	0.000000	0.08366	0.231000	0.22761	0.0:0.3142:0.4857:0.2001	5.798	0.17660	824	0.40336	.;.;.;.	.	.	.	.	rs117353506	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009804	0.000000	0.024194	0.004425	0.000000	0.045455	0.011628	0.012500	0.1	5067.14	36	chr19	16736665	.	T	C	5067.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.831;DP=733;ExcessHet=0.2348;FS=1.114;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.1;SOR=0.599	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1229	8	0	2	0
chr19	16914686	16914686	C	T	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon28:c.G3757A:p.V1253M	Anterior segement dysgenesis 8, Autosomal recessive	421	1097	4	0	0	4	0.00181984	.	.	.	3235856	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.00241005587261	0.0002	.	4.202e-05	0.0001	8.673e-05	0.0001	0	3.045e-05	0	0	3.23e-05	5	154602	rs371740384	6.363e-05	6.362e-05	5.854e-05	6.876e-05	0.0021	5.295e-05	4.911e-05	0.0012	0.0009	2.987e-05	4.472e-05	0	5.038e-05	3.748e-05	0.0021	6.116e-05	3.313e-05	4.637e-05	5.912e-05	5.91e-05	5.137e-05	6.724e-05	0.0002	3.077e-05	2.21e-05	1.972e-05	1.124e-05	4.823e-05	0	6.542e-05	0	0	0	0	5.879e-05	0.0005	0.0002	.	.	.	0.453	0.12848	T	.	.	.	.	.	.	0.000531	0.43581	U	0.187072	0.999878	0.19925	N	.	.	.	1.35	0.34648	T	.	.	.	0.226	0.25377	-1.0974	0.04420	T	0.080	0.31586	T	9	0.1455132	0.27601	T	0.00241	0.04729	T	.	.	.	.	0.296329037015	0.29243	.	.	0.200901905111	0.22489	0.452781021595	0.32324	T	.	.	.	-0.427025	0.01545	T	-0.58674	0.13950	T	0.0601690821349621	0.07196	T	0.675332	0.28377	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.582318	0.20247	14.66	0.9338358179203875	0.23134	0.09797	0.15471	N	AEFBI	0.039163	0.05650	N	-0.553958930874403	0.20359	1.072705	-0.613063292998282	0.19158	1.026623	2.43948660974913E-6	0.01202	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	2.93	0.344	0.15244	0.983000	0.29150	-0.453000	0.09087	-0.177000	0.10537	0.711000	0.28732	0.000000	0.08366	0.405000	0.26894	0.0:0.3977:0.0:0.6023	5.829	0.17828	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	584.43	39	chr19	16914686	.	C	T	584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.555;DP=378;ExcessHet=0;FS=3.715;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.81;SOR=0.97	GT:AD:DP:GQ:PL	0/1:30,24:54:99:596,0,780	9	0	1	0
chr19	17011679	17011679	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon4:c.C346T:p.H116Y	Anterior segement dysgenesis 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3650943	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.167	0.00520946136751	.	.	4.179e-05	0	8.66e-05	0	0	6.072e-05	0	0	3.88e-05	6	154602	rs779986442	4.242e-05	4.241e-05	4.084e-05	4.401e-05	0.0002	3.377e-05	3.065e-05	3.631e-05	3.288e-05	0	4.472e-05	3.826e-05	0	0	0.0002	4.676e-05	3.313e-05	4.638e-05	3.939e-05	3.937e-05	3.854e-05	4.028e-05	7.35e-05	1.714e-05	1.129e-05	2.846e-05	1.858e-05	0	0	6.539e-05	0	0	0	0	7.35e-05	0	0	0.218	0.19090	T	0.11	0.74150	T	.	.	.	.	.	.	0.000005	0.62929	U	0.000000	0.822882	0.36530	D	.	.	.	1.4	0.52642	T	-1.44	0.35399	N	0.418	0.47857	-0.9934	0.31722	T	0.093	0.35390	T	10	0.33098286	0.50327	T	0.005209	0.13279	T	0.167	0.42761	.	.	0.433936292671	0.43013	.	.	0.213971234726	0.23928	0.726978182793	0.71065	T	0.022758	0.17490	T	-0.189665	0.22308	T	-0.324314	0.42100	T	0.219379335641861	0.21433	T	0.740526	0.35940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.998378	0.25390	16.74	0.99188204616090547	0.54906	0.91123	0.52905	D	AEFDBI	0.809672	0.73312	D	-0.3190085812801	0.28426	1.567805	-0.21704035084649	0.30924	1.745487	0.992412850232678	0.32831	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	3.06	3.06	0.34374	6.051000	0.70697	2.631000	0.33693	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.0:0.0:1.0:0.0	13.063	0.58426	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	724.43	33	chr19	17011679	.	G	A	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.244;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.69;MQRankSum=1.63;QD=10.06;ReadPosRankSum=0.961;SOR=0.702	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1069	9	0	1	0
chr19	17022092	17022092	G	A	exonic	CPAMD8	.	nonsynonymous SNV	CPAMD8:NM_015692:exon2:c.C182T:p.T61M	Anterior segement dysgenesis 8, Autosomal recessive	428	1092	1	1	0	3	0.00137174	.	.	.	2103652	CPAMD8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.037	.	0.0019	.	0.0037	0.0002	0.0014	0	0.0256	0.0040	0.0033	0	0.0023609	365	154602	rs186779378	0.0028	0.0028	0.0028	0.0027	0.0026	0.0027	0.0027	0.0025	0.0024	0.0006	0.0013	0.0007	2.535e-05	0.0176	0.0010	0.0026	0.0023	2.365e-05	0.0028	0.0028	0.0022	0.0034	0.0026	0.0025	0.0024	0.0023	0.0021	0.0005	0	0.0020	0.0012	0	0.0171	0.0103	0.0026	0.0009	0	0.187	0.21385	T	0.343	0.19131	T	.	.	.	.	.	.	0.391969	0.13243	N	0.669254	1	0.08975	N	.	.	.	1.22	0.55775	T	-2.0	0.46146	N	0.125	0.14622	-1.0590	0.12007	T	0.051	0.21611	T	10	0.010692209	0.00237	T	.	.	.	0.051	0.14325	.	.	0.101711395817	0.09552	.	.	0.148201495314	0.16711	0.377703130245	0.21930	T	0.037709	0.24575	T	-0.548723	0.00297	T	-0.564657	0.15942	T	0.00423873721844161	0.00045	T	0.334567	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.586975	0.09555	6.330	0.71657000680136362	0.09703	0.02646	0.07250	N	AEFDGBCIJ	0.043370	0.06847	N	-1.63853439224072	0.01084	0.04706102	-1.66356516165487	0.01307	0.0589845	0.999263500262267	0.38940	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.526803	0.08958	0	.	.	3.06	-3.25	0.04765	0.429000	0.21131	-0.554000	0.08512	-0.719000	0.03822	0.009000	0.18154	0.000000	0.08366	0.004000	0.06068	0.1617:0.0:0.5007:0.3376	4.889	0.13075	970	0.06235	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003040	0.010204	0.005450	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	635.43	34	chr19	17022092	.	G	A	635.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=358;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.695;SOR=0.812	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1109	9	0	1	0
chr19	17154031	17154031	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon5:c.C1063T:p.L355F,MYO9B:NM_004145:exon5:c.C1063T:p.L355F	.	420	1091	11	0	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.740	0.356938495134	0.0004	0.000199681	0.0002	0	0.0002	0	0	0.0002	0.0033	0.0001	0.0001682	26	154602	rs188640121	0.0002	0.0002	0.0002	0.0002	0.0047	0.0002	0.0002	0.0033	0.0028	8.961e-05	0.0006	3.826e-05	0	0	0.0047	0.0002	0.0003	0.0001	0.0003	0.0003	0.0002	0.0005	0.0020	0.0003	0.0002	0.0015	0.0013	0	0	0.0020	0.0003	0	0	0.0034	0.0002	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000277	0.46590	D	0.000000	0.990556	0.41184	D	3.01	0.86067	M	-3.62	0.95077	D	-3.83	0.72120	D	0.436	0.47580	1.081	0.98897	D	0.926	0.97547	D	10	0.5154297	0.62338	D	0.356938	0.92414	D	0.740	0.90982	.	.	0.830697795113	0.82909	0.5685933574093247	0.56787	1.36181686996	0.84354	0.536704838276	0.43980	T	0.713955	0.91863	D	0.026396	0.55241	T	0.16205	0.80932	D	0.273745328187943	0.23906	T	0.881612	0.60121	D	.	.	.	.	.	.	.	.	-10.139	0.74740	D	.	.	0.727	0.75565	P	.;.;.;.	.;.;.;.	4.524919	0.70976	25.6	0.99904497049022711	0.97576	0.91574	0.53814	D	AEFDBCI	0.420251	0.48715	N	0.77194824234332	0.84325	8.256309	0.695121413246929	0.82007	7.661871	0.893366742207769	0.25904	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.15	5.15	0.70287	2.587000	0.45793	5.844000	0.50275	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	15.783	0.78052	929	0.16858	.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX myosin, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class IX myosin, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.005051	0.010870	0.011696	0.000000	0.000000	0.000000	0.003788	0.05	948.43	33	chr19	17154031	.	C	T	948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.704;DP=384;ExcessHet=0;FS=0.856;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-1.011;SOR=0.817	GT:AD:DP:GQ:PL	0/1:36,41:77:99:960,0,765	9	0	1	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L,MYO9B:NM_004145:exon39:c.C6053T:p.S2018L	.	367	1108	46	1	0	48	0.0212014	.	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.023666	0.005102	0.019022	0.032164	0.050000	0.034483	0.024390	0.030303	0.1	1501.14	35	chr19	17211769	.	C	T	1501.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.79;DP=403;ExcessHet=0.2348;FS=2.24;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.738;SOR=0.916	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1187	8	0	2	0
chr19	17264280	17264280	C	T	exonic	USHBP1	.	nonsynonymous SNV	USHBP1:NM_001321417:exon2:c.G20A:p.R7Q,USHBP1:NM_031941:exon2:c.G20A:p.R7Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0624639857634	.	.	9.077e-06	0	0	0	0	1.632e-05	0	0	6.5e-06	1	154602	rs768803771	6.161e-06	6.156e-06	4.086e-06	8.257e-06	2.322e-05	2.9e-06	2.1e-06	3.86e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	2.322e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.016223	0.28032	N	0.167681	0.572476	0.81001	D	1.83	0.48079	L	1.15	0.38236	T	-1.2	0.30555	N	0.582	0.60325	-0.7231	0.59309	T	0.144	0.46750	T	10	0.294846	0.47055	T	0.062464	0.68660	D	0.153	0.40148	0.267	0.21418	0.512134464093	0.50855	0.27610450375347445	0.27523	0.16793613129	0.18938	0.778774380684	0.78742	T	0.007914	0.07283	T	-0.044808	0.45232	T	-0.286654	0.46118	T	0.93496710062027	0.60283	D	0.877212	0.59013	D	0.29538044	0.52488	0.34593177	0.60268	0.29538044	0.52488	0.34593177	0.60268	-6.28	0.48563	T	.	.	0.632	0.78128	P	.;.;.	.;.;.	4.133300	0.61874	24.4	0.9986194686778368	0.94002	0.61755	0.31578	D	AEFDBCI	0.414359	0.48366	N	0.331187807201236	0.57756	3.944243	0.262401081079184	0.53358	3.505159	0.999998682870298	0.74766	0.538715	0.22204	0	0.547309	0.14657	0	0.78367	0.99111	0	0.375	0.06713	1	.	.	3.75	3.75	0.42236	3.355000	0.51978	5.825000	0.50115	0.596000	0.33519	0.673000	0.28375	0.986000	0.30841	0.896000	0.43308	0.0:1.0:0.0:0.0	11.787	0.51320	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3238.12	34	chr19	17264280	.	C	T	3238.12	.	AC=2;AF=0.1;AN=20;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.06;SOR=0.795	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1156	9	1	0	0
chr19	17286458	17286458	G	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1537A:p.A513T,ANKLE1:NM_001278443:exon9:c.G1643A:p.R548H,ANKLE1:NM_001278445:exon9:c.G1634A:p.R545H,ANKLE1:NM_152363:exon9:c.G1754A:p.R585H	.	.	.	.	.	.	.	.	.	.	.	2204288	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.017292828929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761566717	8.22e-06	8.893e-06	9.54e-06	6.886e-06	5.974e-05	4.38e-06	3.46e-06	9.89e-06	4.57e-06	5.974e-05	4.481e-05	0	0	0	0	3.599e-06	1.658e-05	3.487e-05	3.942e-05	3.94e-05	2.57e-05	5.379e-05	0.0002	1.715e-05	1.129e-05	1.918e-05	1.032e-05	7.235e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.134	0.34241	T	.	.	.	.	.	.	0.006450	0.32025	N	0.305630	0.551371	0.81001	D	.	.	.	.	.	.	.	.	.	0.164	0.29429	-0.2184	0.77193	T	0.408	0.75706	T	10	0.24126422	0.41301	T	0.017293	0.38928	T	0.261	0.57352	.	.	0.479056812784	0.47537	0.28460258157871304	0.28373	0.719982598912	0.62158	0.566581487656	0.48195	T	.	.	.	-0.0475657	0.44818	T	-0.223236	0.52423	T	0.951850295066833	0.63654	D	0.864214	0.56114	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19760	B	.;.	.;.	5.168871	0.86628	29.0	0.99954334554824342	0.99963	0.89786	0.50478	D	AEFDGBI	0.250428	0.37048	N	0.566366763725946	0.71084	5.598	0.57412097816838	0.73091	5.913953	0.967492108602789	0.28981	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.42	5.42	0.78666	5.413000	0.66140	5.694000	0.49349	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.826000	0.38927	0.0:0.0:0.8235:0.1764	11.737	0.51036	846	0.36215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1687.43	129	chr19	17286458	.	G	A	1687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.178;DP=460;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.504;SOR=0.723	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	9	0	1	0
chr19	17286567	17286567	G	A	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1646A:p.G549D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00195957454238	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866890035	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1146.43	82	chr19	17286567	.	G	A	1146.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.983;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.49;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	9	0	1	0
chr19	17286647	17286647	-	GT	exonic	ANKLE1	.	frameshift insertion	ANKLE1:NM_001278444:exon8:c.1726_1727insGT:p.L591Vfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235741244	0.0022	0.0034	0.0021	0.0024	0.0649	0.0022	0.0021	0.0624	0.0614	0.0030	0.0042	4.463e-05	0.0649	0.0036	0.0008	0.0003	0.0025	0.0046	0.0082	0.0095	0.0076	0.0088	0.0986	0.0078	0.0076	0.0911	0.0881	0.0090	0	0.0091	0.0003	0.0986	0.0059	0	0.0019	0.0061	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	423.09	40	chr19	17286647	.	G	GGT	423.09	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=465;ExcessHet=0.2348;FS=2.115;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=-0.205;SOR=0.46	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1219	9	0	1	0
chr19	17286680	17286680	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	310.58	58	chr19	17286680	.	G	*	310.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=532;ExcessHet=0.2348;FS=8.115;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=4;SOR=0.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,102,1530:.	9	0	1	0
chr19	17286680	17286680	G	T	exonic	ANKLE1	.	nonsynonymous SNV	ANKLE1:NM_001278444:exon8:c.G1759T:p.V587L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00928099929901	.	.	0	0	0	0	0	0	0	0	0.0003074	8	26028	rs760441656	0.0002	0.0014	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0003	0.0003	0.0001	0.0001	0	5.428e-05	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	9.116e-05	0.0005	0.0004	0.0007	0	0	0	0	0	0	1.978e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	310.58	58	chr19	17286680	.	G	T	310.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.28;DP=532;ExcessHet=0.2348;FS=8.115;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=4;SOR=0.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,102,1530:.	9	0	1	0
chr19	17286682	17286692	GTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	535	734	32	0	221	253	0.0213333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	580.72	58	chr19	17286682	.	GTGTGTGTGTT	*	580.72	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=537;ExcessHet=0.7463;FS=3.854;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=3.97;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:30,0:43:99:.:.:315,405,1504:.	9	0	1	0
chr19	17286684	17286692	GTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	522	639	135	2	224	363	0.0980946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	141.87	58	chr19	17286684	.	GTGTGTGTT	*	141.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.893;DP=543;ExcessHet=1.5895;FS=10.81;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.97;ReadPosRankSum=1.96;SOR=0.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,13:38:99:.:.:410,0,1000:.	7	0	3	0
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	361.99	58	chr19	17286686	.	GTGTGTT	*	361.99	.	AC=4;AF=0.2;AN=20;DP=541;ExcessHet=0.2065;FS=5.819;InbreedingCoeff=0.2;MLEAC=4;MLEAF=0.2;MQ=60;QD=2.46;SOR=0.337	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:25,13:38:99:.:.:410,0,1000:.	6	0	4	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	292.77	55	chr19	17286688	.	GTGTT	*	292.77	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.579;DP=553;ExcessHet=2.8549;FS=4.441;InbreedingCoeff=-0.2462;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.28;SOR=0.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,13:34:99:.:.:419,0,859:.	6	1	3	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1361.57	55	chr19	17286690	.	GTT	*	1361.57	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.542;DP=552;ExcessHet=5.1594;FS=4.31;InbreedingCoeff=-0.4141;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=2;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,13:26:99:.:.:672,0,501:.	6	1	3	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	0/1:0,23:32:99:1969,272,123	2	1	7	0
chr19	17301217	17301217	C	T	exonic	ABHD8	.	nonsynonymous SNV	ABHD8:NM_024527:exon2:c.G400A:p.G134S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00652007887235	.	.	1.948e-05	0.0001	0	0	0	1.806e-05	0	0	1.29e-05	2	154602	rs773620898	1.384e-06	3.42e-06	0	2.784e-06	3.038e-05	2.3e-07	9e-08	.	.	3.038e-05	0	0	0	0	0	9.036e-07	0	0	1.314e-05	1.313e-05	1.285e-05	1.344e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.662	0.04671	T	0.46	0.12597	T	0.031	0.20130	B	0.002	0.06944	B	0.102943	0.19770	N	0.552403	0.991768	0.23986	N	1.78	0.46185	L	1.51	0.30937	T	0.32	0.03955	N	0.147	0.14905	-1.0112	0.26541	T	0.041	0.17785	T	10	0.070322335	0.10214	T	0.00652	0.17186	T	0.031	0.07369	0.194	0.10571	0.325710239843	0.32177	0.5254403611888953	0.52468	0.744691420979	0.63447	0.843164086342	0.88577	D	0.005	0.04113	T	-0.314604	0.07348	T	-0.499947	0.22353	T	0.0266595556489573	0.01497	T	0.59464	0.22023	T	0.028615313	0.02227	0.036042552	0.02971	0.028615313	0.02227	0.036042552	0.02971	-4.037	0.24355	T	.	.	0.085	0.18080	B	.;.	.;.	1.141315	0.15289	11.73	0.90797691817729742	0.20047	0.35697	0.25362	N	AEFBI	0.110955	0.21984	N	-0.943749516523671	0.09833	0.4671732	-0.921001563037939	0.11600	0.5918958	0.996898363269271	0.35096	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.528226	0.09195	0	.	.	5.09	2.98	0.33575	0.635000	0.24318	1.218000	0.24956	-0.198000	0.09030	0.000000	0.06391	0.046000	0.21717	0.002000	0.04165	0.0:0.8212:0.0:0.1788	9.157	0.36160	789	0.46346	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	803.43	34	chr19	17301217	.	C	T	803.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=-0.463;SOR=0.776	GT:AD:DP:GQ:PL	0/1:30,29:59:99:815,0,715	9	0	1	0
chr19	17323550	17323555	GGGGCT	-	exonic	ANO8	.	nonframeshift deletion	ANO8:NM_020959:exon18:c.3661_3666del:p.S1221_P1222del	.	430	1089	2	0	1	3	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0018	0	3.645e-05	0	0	0.0001035	16	154602	rs775368243	6.658e-05	7.251e-05	7.227e-05	6.039e-05	0.0019	5.453e-05	4.978e-05	0.0015	0.0014	0	0	0.0004	0.0019	0	0	8.403e-06	6.527e-05	0	3.947e-05	4.594e-05	2.573e-05	5.383e-05	0.0004	1.717e-05	1.13e-05	6.899e-05	2.884e-05	0	0	0	0.0012	0.0004	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	747.39	32	chr19	17323549	.	GGGGGCT	G	747.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=257;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.36;ReadPosRankSum=3;SOR=0.776	GT:AD:DP:GQ:PL	0/0:28,0:28:81:0,81,1215	9	0	1	0
chr19	17365894	17365894	G	A	exonic	PLVAP	.	nonsynonymous SNV	PLVAP:NM_031310:exon3:c.C571T:p.R191C	.	.	.	.	.	.	.	.	.	.	.	2309854	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.00798599860043	.	.	8.248e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs776368180	8.893e-06	8.893e-06	5.445e-06	1.238e-05	0.0002	4.96e-06	3.82e-06	8.861e-05	6.427e-05	0	0.0002	0	0	0	0	2.698e-06	0	2.319e-05	6.571e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.01	0.56456	D	0.014	0.62352	D	0.999	0.77913	D	0.877	0.62241	P	0.040289	0.24075	N	0.430329	0.999999	0.08975	N	1.905	0.50856	L	.	.	.	-3.47	0.67824	D	0.454	0.49146	-1.0622	0.11215	T	0.109	0.39415	T	9	0.7096852	0.72963	D	0.007986	0.21188	T	0.114	0.32008	0.767	0.89452	0.126345400529	0.12197	0.2555060795949818	0.25464	1.03364375487	0.75500	0.310299247503	0.11952	T	0.304708	0.67700	T	-0.274548	0.11254	T	-0.362846	0.37723	T	0.426881968975067	0.29945	T	0.755224	0.37818	T	0.16044834	0.35987	0.08807175	0.20513	0.16044834	0.35986	0.08807175	0.20512	-10.703	0.78004	D	0.828651602834334	0.89999	0.202	0.42692	B	.	.	2.820528	0.37159	20.4	0.9980851298830371	0.89264	0.05221	0.11050	N	AEFDBI	0.248628	0.36900	N	-0.293380910425987	0.29402	1.630228	-0.464722190432195	0.23133	1.259949	0.00642255594916012	0.11214	0.615465	0.37627	0	0.588066	0.40923	0	0.573078	0.19857	0	0.655142	0.61905	0	.	.	4.74	2.37	0.28337	0.563000	0.23250	1.214000	0.24928	-0.244000	0.07312	0.004000	0.16614	0.001000	0.17328	0.000000	0.00833	0.0:0.0:0.6148:0.3852	9.438	0.37814	769	0.49307	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2467.43	34	chr19	17365894	.	G	A	2467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.02;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.799;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1073	9	0	1	0
chr19	17436570	17436570	A	G	exonic	TMEM221	.	nonsynonymous SNV	TMEM221:NM_001190844:exon3:c.T764C:p.M255T	.	411	1105	6	0	0	6	0.00270758	.	.	.	3913749	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00292631923195	.	0.000199681	0.0002	0	0	0	0	0	0	0.0004	2.59e-05	4	154602	rs573622370	4.914e-05	4.652e-05	3.709e-05	6.151e-05	0.0005	3.938e-05	3.604e-05	0.0004	0.0003	0	5.602e-05	0	0	0	0	2.41e-05	3.454e-05	0.0005	3.285e-05	3.281e-05	3.856e-05	2.688e-05	0.0004	1.261e-05	7.98e-06	7.301e-05	3.033e-05	0	0	0.0001	0	0	0	0	1.471e-05	0	0.0004	0.9	0.02424	T	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	0.995786	0.23201	N	0.805	0.20218	L	.	.	.	-0.04	0.07590	N	0.086	0.06322	-0.9794	0.35139	T	0.024	0.10013	T	5	0.018371105	0.00399	T	0.002926	0.06192	T	0.029	0.06676	0.318	0.29581	0.0482279557977	0.04254	0.1280051116978245	0.12725	.	.	0.442565858364	0.30928	T	0.014553	0.12369	T	-0.479415	0.00745	T	-0.565629	0.15852	T	0.0118093704981101	0.00183	T	0.289471	0.05256	T	0.038176417	0.05035	0.08073529	0.18288	0.038176417	0.05034	0.08073529	0.18287	-2.48	0.05646	T	.	.	0.126	0.26545	B	.	.	-0.904622	0.00918	0.034	0.36753775677044831	0.02382	0.10798	0.16200	N	AEFDGBHI	0.053828	0.09734	N	-0.943653311448718	0.09836	0.4672837	-1.05588260059252	0.08584	0.4228009	5.9702559998017E-4	0.07414	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.43	1.05	0.19280	0.723000	0.25609	-1.784000	0.04733	-0.107000	0.15377	0.070000	0.22072	0.000000	0.08366	0.016000	0.10718	0.6567:0.0:0.1861:0.1572	3.859	0.08496	653	0.62661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1169.43	37	chr19	17436570	.	A	G	1169.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.057;DP=525;ExcessHet=0;FS=1.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-0.839;SOR=0.585	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1181,0,1457	9	0	1	0
chr19	17998254	17998254	G	A	exonic	KCNN1	.	nonsynonymous SNV	KCNN1:NM_002248:exon11:c.G1480A:p.A494T	.	367	1153	1	1	0	3	0.00129926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00239617	0.0011	0	0	0.0233	0	0	0	0	0.0007438	115	154602	rs149096191	0.0003	0.0003	0.0003	0.0003	0.0108	0.0003	0.0003	0.0099	0.0096	0	0	3.939e-05	0.0108	0	0.0002	1.009e-05	0.0003	2.47e-05	0.0005	0.0005	0.0004	0.0006	0.0133	0.0004	0.0004	0.0108	0.0099	4.811e-05	0	0.0001	0	0.0133	0	0	2.941e-05	0	0	.	.	.	0.528	0.10173	T	0.0	0.02946	B	0.001	0.04355	B	0.407627	0.13040	N	0.727019	0.999975	0.18612	N	0.695	0.17993	N	.	.	.	.	.	.	0.017	0.03175	-1.0198	0.23780	T	0.043	0.18659	T	9	0.0031675398	0.00053	T	.	.	.	0.033	0.08068	.	.	0.102598925029	0.09809	0.1650186089365806	0.16421	0.512403420068	0.49281	0.502120137215	0.39123	T	0.221836	0.58551	T	-0.552901	0.00280	T	-0.552701	0.17066	T	0.0157639158705297	0.00366	T	0.464054	0.13535	T	0.028872564	0.02293	0.07513438	0.16509	0.028872564	0.02293	0.07513438	0.16508	-6.109	0.47182	T	.	.	0.065	0.01986	B	.;.	.;.	0.457991	0.08281	5.023	0.97298891999226544	0.33271	0.02548	0.07073	N	AEFDGBHCI	0.078131	0.15758	N	-1.12540476248548	0.06194	0.2844897	-1.17640017147478	0.06306	0.3031097	0.999999991572996	0.74766	0.17398	0.03958	1	0.255197	0.04854	0	0.340697	0.05905	0	0.109439	0.03173	0	.	.	3.78	-1.93	0.07180	-0.828000	0.04526	-0.493000	0.08848	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.1542:0.0:0.5757:0.27	3.992	0.09032	958	0.09170	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1116.43	86	chr19	17998254	.	G	A	1116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.883;DP=428;ExcessHet=0;FS=2.886;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=2.34;SOR=1.051	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr19	18080970	18080970	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon4:c.G271A:p.A91T,IL12RB1:NM_005535:exon4:c.G271A:p.A91T,IL12RB1:NM_153701:exon4:c.G271A:p.A91T,IL12RB1:NM_001290024:exon5:c.G391A:p.A131T	Immunodeficiency 30, Autosomal recessive	3	1518	1	0	0	1	0.000329272	.	.	.	348416	IL12RB1-related_disorder|not_provided|Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency	.|MedGen:C3661900|MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	.	0.00758786	0.0031	9.792e-05	8.681e-05	0.0427	0	1.518e-05	0	0.0001	0.0027619	427	154602	rs147215816	0.0008	0.0008	0.0008	0.0008	0.0268	0.0008	0.0007	0.0254	0.0249	0	0	0	0.0268	0	0.0004	3.238e-05	0.0008	0.0001	0.0014	0.0014	0.0010	0.0017	0.0375	0.0012	0.0012	0.0332	0.0315	9.631e-05	0	0.0003	0	0.0375	0	0	2.941e-05	0.0009	0.0004	.	.	.	1.0	0.03852	T	0.002	0.28654	B	0.001	0.15521	B	0.842018	0.07005	N	1.097780	1	0.08975	N	0.93	0.23535	L	-1.07	0.76948	T	-1.18	0.30140	N	0.068	0.04072	-1.0557	0.12855	T	0.048	0.20355	T	10	0.004359752	0.00089	T	.	.	.	0.076	0.22200	.	.	0.575246599268	0.57192	0.24676397903905337	0.24590	0.0818033332625	0.09213	0.319861829281	0.13400	T	0.113666	0.43087	T	-0.596258	0.00154	T	-0.591275	0.13556	T	0.00226171801557827	0.00023	T	0.568643	0.20211	T	0.0209483	0.00674	0.03047106	0.01506	0.015479997	0.00141	0.026404653	0.00728	-4.922	0.38860	T	.	.	0.080	0.13221	B	.;.;.;.	.;.;.;.	0.054221	0.04668	1.318	0.16546379459423061	0.00448	0.00702	0.02982	N	AEFBI	0.031371	0.03344	N	-1.32563143327205	0.03384	0.1510951	-1.32359630855542	0.04127	0.1940063	3.18874825317848E-4	0.06498	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.59	-0.158	0.12728	-0.714000	0.05104	-1.979000	0.04399	-0.204000	0.08590	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1946:0.4885:0.0:0.3169	3.171	0.06160	952	0.10565	Fibronectin type III;Fibronectin type III;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1750.43	133	chr19	18080970	.	C	T	1750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.236;SOR=0.717	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr19	18258063	18258063	C	T	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.G3221A:p.R1074H,IQCN:NM_001145305:exon4:c.G2522A:p.R841H,IQCN:NM_025249:exon4:c.G2660A:p.R887H	.	427	1059	34	2	0	38	0.0176252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	.	0.0038	0.00299521	0.0047	0.0012	0.0047	0.0001	0.0002	0.0066	0.0092	0.0034	0.0042884	663	154602	rs141048177	0.0041	0.0041	0.0040	0.0042	0.0265	0.0040	0.0040	0.0231	0.0218	0.0014	0.0049	0.0208	2.519e-05	0.0003	0.0265	0.0040	0.0053	0.0035	0.0036	0.0036	0.0038	0.0033	0.0054	0.0033	0.0032	0.0045	0.0041	0.0010	0	0.0054	0.0216	0	0.0003	0.0374	0.0043	0.0104	0.0037	0.163	0.23450	T	0.095	0.48336	T	0.092	0.25296	B	0.002	0.06944	B	0.157719	0.03014	N	1.971570	1	0.08975	N	.	.	.	3.94	0.03597	T	-0.59	0.17624	N	0.075	0.11626	-0.9618	0.38839	T	0.007	0.02518	T	10	0.0044397414	0.00091	T	.	.	.	0.073	0.21317	.	.	0.0138822411134	0.00435	0.45776120767345174	0.45694	0.222400704968	0.24772	0.377672582865	0.21925	T	0.021313	0.16617	T	-0.62893	0.00097	T	-0.674686	0.07311	T	0.00170340232547441	0.00017	T	0.509649	0.16214	T	0.028322374	0.02152	0.030063309	0.01416	0.028322374	0.02151	0.030063309	0.01415	-5.103	0.40376	T	.	.	0.105	0.19559	B	.;.;.;.	.;.;.;.	1.248499	0.16447	12.55	0.94216204161609229	0.24461	0.05184	0.11004	N	AEFDBCI	0.064026	0.12409	N	-1.13637647039827	0.06007	0.2754035	-1.18334913895505	0.06187	0.2970505	1.35823505308899E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	2.58	1.52	0.22158	0.373000	0.20215	0.117000	0.14863	-0.881000	0.02461	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3029:0.6971:0.0	7.229	0.25209	871	0.31377	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027190	0.030303	0.036685	0.055556	0.000000	0.008621	0.015244	0.007576	0.15	4012.43	38	chr19	18258063	.	C	T	4012.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.65;DP=510;ExcessHet=0;FS=4.525;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=22.42;ReadPosRankSum=-0.754;SOR=1.169	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,117,1755	8	1	1	0
chr19	18266981	18266981	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon3:c.A559G:p.M187V,IQCN:NM_001145305:exon3:c.A421G:p.M141V,IQCN:NM_025249:exon3:c.A559G:p.M187V	.	418	1026	72	6	0	84	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0031	0.00758786	0.0073	0.0009	0.0029	0	0.0005	0.0036	0.0112	0.0358	0.0066105	1022	154602	rs146146831	0.0046	0.0046	0.0036	0.0056	0.0358	0.0045	0.0045	0.0347	0.0343	0.0009	0.0034	0.0110	0.0001	0.0006	0.0324	0.0023	0.0066	0.0358	0.0033	0.0033	0.0028	0.0039	0.0339	0.0031	0.0030	0.0297	0.0281	0.0004	0	0.0059	0.0112	0.0002	0.0008	0.0306	0.0025	0.0066	0.0339	0.114	0.28646	T	0.244	0.48594	T	0.378	0.34287	B	0.05	0.25278	B	0.021713	0.26779	N	0.180201	1	0.08975	N	.	.	.	3.92	0.03650	T	-1.52	0.36980	N	0.203	0.22870	-0.9422	0.42266	T	0.008	0.02968	T	10	0.003352046	0.00058	T	.	.	.	0.016	0.02506	.	.	0.0482279557977	0.04254	0.05319012485728733	0.05261	0.24097835035	0.26633	0.285850286484	0.08321	T	0.029514	0.21131	T	-0.508874	0.00509	T	-0.477976	0.24662	T	0.00489690506692615	0.00053	T	0.551245	0.19298	T	0.2013452	0.42141	0.13866098	0.33107	0.2013452	0.42141	0.13866098	0.33106	-2.483	0.05666	T	.	.	0.108	0.30868	B	.;.;.;.	.;.;.;.	0.527022	0.08959	5.739	0.50393029527930266	0.04376	0.03004	0.07870	N	AEFDBCI	0.049198	0.08476	N	-0.809732432116235	0.13061	0.6408367	-0.892680457518492	0.12266	0.6299993	0.061590484083595	0.15236	0.660377	0.49826	0	0.694456	0.67091	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	3.23	2.15	0.26590	1.648000	0.36886	0.443000	0.18445	0.609000	0.47794	0.009000	0.18154	0.000000	0.08366	0.035000	0.13729	0.0:0.0:0.2574:0.7426	6.295	0.20289	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.022659	0.015152	0.023098	0.035088	0.000000	0.025862	0.033537	0.015152	0.05	1182.43	73	chr19	18266981	.	T	C	1182.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.288;DP=699;ExcessHet=0;FS=1.654;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.627;SOR=0.641	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1194,0,1269	9	0	1	0
chr19	18612988	18612990	GCT	-	exonic	TMEM59L	.	nonframeshift deletion	TMEM59L:NM_012109:exon1:c.30_32del:p.L17del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	.	0.0303	0.0208	0.0333	0.0172	0	0.0203	0	0.0353	0.0003946	61	154602	rs748071337	0.0007	0.0035	0.0006	0.0009	0.0026	0.0007	0.0007	0.0023	0.0021	0.0002	0.0016	0.0013	0.0002	0.0013	0.0009	0.0006	0.0007	0.0026	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0001	0	0	0	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010458	0.005814	0.007843	0.021930	0.050000	0.000000	0.011111	0.005051	0.05	402.39	34	chr19	18612987	.	CGCT	C	402.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.387;DP=258;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=1.38;SOR=0.627	GT:AD:DP:GQ:PL	0/0:30,0:30:90:0,90,844	9	0	1	0
chr19	19051950	19051950	G	A	exonic	ARMC6	.	nonsynonymous SNV	ARMC6:NM_033415:exon4:c.G533A:p.R178H,ARMC6:NM_001199196:exon5:c.G608A:p.R203H	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.0238042463074	7.7e-05	.	8.276e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs373198003	1.915e-05	1.915e-05	1.906e-05	1.925e-05	8.945e-05	1.328e-05	1.144e-05	2.985e-05	1.804e-05	2.987e-05	8.945e-05	0	0	0	0	1.439e-05	3.311e-05	5.797e-05	1.314e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.016	0.56456	D	0.09	0.40267	T	0.574	0.38693	P	0.073	0.28123	B	0.000070	0.52346	D	0.173879	0.999428	0.47006	D	2.46	0.71463	M	0.74	0.50459	T	-3.27	0.65512	D	0.742	0.74189	-0.9128	0.46505	T	0.131	0.44088	T	10	0.3983691	0.55390	T	0.023804	0.46785	T	0.247	0.55478	.	.	0.548188646194	0.54475	0.592489090517643	0.59178	0.350567368242	0.36905	0.44028994441	0.30616	T	0.26134	0.63281	T	-0.17367	0.24681	T	-0.305713	0.44118	T	0.739114105701447	0.42690	D	0.89801	0.64352	D	0.19791077	0.41673	0.12217051	0.29471	0.19791077	0.41673	0.12217051	0.29470	-11.064	0.80669	D	.	.	0.168	0.43241	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.965239	0.82122	27.7	0.99675221103255462	0.78846	0.97396	0.74483	D	AEFDGBHCI	0.835163	0.75311	D	0.0553000525415758	0.44388	2.713668	0.0884152427431304	0.43963	2.687439	0.999997936951251	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.197000	0.77336	9.571000	0.81011	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.112000	0.18829	0.0:0.0:1.0:0.0	17.717	0.88248	934	0.15400	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2089.43	37	chr19	19051950	.	G	A	2089.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.45;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.186;SOR=0.662	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1070	9	0	1	0
chr19	19268050	19268050	G	A	exonic	TM6SF2	.	nonsynonymous SNV	TM6SF2:NM_001001524:exon7:c.C647T:p.P216L	.	406	1099	17	0	0	17	0.00767494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.109003907136	0.0002	0.000599042	0.0004	0	0.0012	0	0	0.0005	0.0045	0.0002	0.0003881	60	154602	rs186811910	0.0004	0.0004	0.0004	0.0004	0.0113	0.0003	0.0003	0.0091	0.0083	0.0004	0.0011	0.0008	0	0	0.0113	0.0003	0.0011	0.0003	0.0006	0.0006	0.0006	0.0006	0.0038	0.0005	0.0005	0.0030	0.0027	9.632e-05	0	0.0038	0.0003	0	0	0.0034	0.0003	0.0028	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000240	0.47286	U	0.000000	1	0.81001	D	3.11	0.87757	M	0.75	0.50192	T	-7.98	0.96395	D	0.879	0.87699	-0.4054	0.71857	T	0.248	0.61762	T	10	0.42586207	0.57169	T	0.109004	0.78579	D	0.596	0.83965	.	.	0.356484672536	0.35262	0.6789202065776354	0.67831	0.806251199678	0.66477	0.468622773886	0.34490	T	0.298611	0.67117	T	0.0305121	0.55791	T	0.191791	0.82669	D	0.424041986465454	0.29840	T	0.973803	0.90577	D	0.6937057	0.77712	0.49910516	0.71039	0.6937057	0.77714	0.49910516	0.71040	-10.515	0.76933	D	.	.	0.327	0.55011	B	.	.	4.483275	0.69966	25.5	0.99820414673699931	0.90326	0.98494	0.83372	D	AEFDBI	0.845905	0.76280	D	0.584315029465696	0.72196	5.767704	0.446677935506681	0.64503	4.707086	0.999998193255724	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.74	4.74	0.59717	7.921000	0.86938	.	.	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.058000	0.15825	0.0:0.0:1.0:0.0	15.219	0.72983	794	0.45591	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.012228	0.023392	0.000000	0.025862	0.006098	0.007576	0.05	1200.43	35	chr19	19268050	.	G	A	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=437;ExcessHet=0;FS=0.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.11;SOR=0.863	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr19	19635648	19635648	G	T	exonic	GMIP	.	nonsynonymous SNV	GMIP:NM_016573:exon14:c.C1401A:p.D467E	.	406	1080	35	1	0	37	0.0168411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0010	0.00519169	0.0048	9.61e-05	0.0009	0.0002	0.0012	0.0018	0.0077	0.0261	0.0041849	647	154602	rs141198269	0.0026	0.0026	0.0018	0.0033	0.0247	0.0025	0.0025	0.0238	0.0235	2.987e-05	0.0010	0.0076	5.038e-05	0.0009	0.0080	0.0010	0.0030	0.0247	0.0017	0.0017	0.0013	0.0021	0.0222	0.0015	0.0014	0.0188	0.0175	0.0002	0	0.0012	0.0072	0	0.0009	0.0034	0.0012	0.0014	0.0222	0.75	0.03587	T	0.0	0.92824	D	0.998	0.73220	D	0.899	0.63802	P	0.000916	0.41128	D	0.000000	0.964895	0.81001	D	1.475	0.37068	L	2.06	0.20523	T	-0.79	0.21860	N	0.067	0.03956	-1.0170	0.24690	T	0.045	0.19356	T	10	0.006407529	0.00145	T	.	.	.	0.102	0.29158	0.187	0.09646	0.404733080969	0.40085	0.3468900445969443	0.34603	0.873673126028	0.69486	0.513045012951	0.40648	T	0.029571	0.21161	T	-0.584628	0.00181	T	-0.59363	0.13354	T	0.0327127017805036	0.02424	T	0.534247	0.17838	T	0.06920902	0.15142	0.03692319	0.03239	0.06920902	0.15142	0.03692319	0.03238	-1.025	0.01027	T	.	.	0.133	0.28721	B	.	.	2.211830	0.28218	17.72	0.98102960630547464	0.38286	0.44499	0.27332	N	AEFDBCI	0.058329	0.10935	N	-0.124031639927003	0.36347	2.099781	-0.153208107527142	0.33286	1.902394	0.998886779435873	0.37891	0.722319	0.85440	0	0.698795	0.70079	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.01	0.513	0.16200	0.252000	0.18046	.	.	0.672000	0.70159	0.997000	0.40164	0.999000	0.35428	0.998000	0.85391	0.3952:0.0:0.6048:0.0	7.225	0.25183	437	0.80299	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.002717	0.005848	0.000000	0.008621	0.006098	0.022727	0.15	2907.45	75	chr19	19635648	.	G	T	2907.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.926;DP=514;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.916;SOR=0.711	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1481	7	0	3	0
chr19	19679881	19679881	C	T	exonic	ZNF101	.	nonsynonymous SNV	ZNF101:NM_001300949:exon4:c.C532T:p.H178Y,ZNF101:NM_033204:exon4:c.C892T:p.H298Y	.	431	1056	32	3	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0055	0.00579073	0.0066	0.0014	0.0020	0	0.0017	0.0072	0.0133	0.0159	0.0065846	1018	154602	rs35358946	0.0066	0.0066	0.0062	0.0070	0.0165	0.0065	0.0064	0.0150	0.0147	0.0011	0.0026	0.0054	0	0.0022	0.0165	0.0067	0.0062	0.0157	0.0051	0.0051	0.0050	0.0051	0.0133	0.0048	0.0047	0.0107	0.0097	0.0010	0	0.0058	0.0069	0	0.0015	0.0034	0.0078	0.0033	0.0133	0.002	0.72154	D	0.035	0.52389	D	0.433	0.35643	B	0.105	0.31087	B	.	.	.	.	0.799821	0.34496	D	0.17	0.09006	N	1.66	0.27486	T	-2.15	0.48687	N	0.069	0.04188	-1.0257	0.21853	T	0.018	0.07470	T	8	0.0066495836	0.00151	T	.	.	.	0.055	0.15663	.	.	0.202949470691	0.19918	0.02114780580737193	0.02067	0.313643459158	0.33653	0.245766609907	0.03335	T	0.021994	0.17036	T	-0.656461	0.00066	T	-0.702764	0.05676	T	0.00789343768369429	0.00093	T	0.337566	0.07230	T	0.061647203	0.12789	0.06612032	0.13500	0.061647203	0.12789	0.06612032	0.13499	-4.655	0.38075	T	.	.	0.118	0.24054	B	.;.	.;.	0.849582	0.12215	8.761	0.87621516478624661	0.17360	0.06040	0.12008	N	AEFBCI	0.027750	0.02323	N	-1.11226993416245	0.06423	0.2956533	-1.23360278248095	0.05378	0.2561064	0.00301293587973306	0.09869	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.235	0.235	0.14697	-0.876000	0.04309	.	.	-0.617000	0.04568	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4753:0.5244:1.0E-4:1.0E-4	3.123	0.06012	560	0.71333	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.010101	0.019022	0.011696	0.000000	0.000000	0.006098	0.022727	0.05	422.43	34	chr19	19679881	.	C	T	422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.669;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.03;ReadPosRankSum=-1.222;SOR=0.675	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1189	9	0	1	0
chr19	19892100	19892100	A	C	exonic	ZNF253	.	nonsynonymous SNV	ZNF253:NM_001331134:exon2:c.A625C:p.K209Q,ZNF253:NM_001331133:exon3:c.A661C:p.K221Q,ZNF253:NM_021047:exon4:c.A853C:p.K285Q	.	428	1087	5	2	0	9	0.00412277	.	.	.	2397650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.00567467081579	.	0.000199681	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0011	0.000194	30	154602	rs187512338	0.0001	0.0001	0.0001	0.0002	0.0035	0.0001	0.0001	0.0023	0.0019	5.974e-05	8.946e-05	0	0	0	0.0035	3.237e-05	0.0002	0.0016	0.0001	0.0001	6.424e-05	0.0002	0.0014	7.085e-05	5.742e-05	0.0007	0.0005	2.405e-05	0	0	0	0	0	0.0102	7.35e-05	0.0005	0.0014	.	.	.	0.048	0.52060	D	0.935	0.52277	P	0.545	0.49043	P	.	.	.	.	1	0.08975	N	1.655	0.42436	L	0.38	0.57575	T	.	.	.	0.075	0.05799	-1.0332	0.19427	T	0.090	0.34683	T	7	0.015888035	0.00334	T	0.005675	0.14681	T	0.024	0.04979	.	.	0.173771789658	0.16945	0.007938133792926001	0.00758	0.543497612951	0.51426	0.320516884327	0.13500	T	0.188357	0.54224	T	-0.546321	0.00307	T	-0.592907	0.13415	T	0.0741419968192751	0.09221	T	0.030397	0.00190	T	0.27340212	0.50407	0.13585807	0.32517	0.27340212	0.50407	0.13585807	0.32517	-7.203	0.55503	T	.	.	0.194	0.41480	B	.;.	.;.	2.239256	0.28593	17.85	0.88696181030245036	0.18182	0.00013	0.00170	N	AEFBHCI	0.021877	0.01026	N	-0.656725849229931	0.17265	0.8869186	-0.907151032703557	0.11925	0.6104944	0.00190466313171431	0.08993	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	0.876	0.876	0.18274	-0.635000	0.05568	.	.	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.6686:0.0:0.3314:0.0	2.921	0.05416	940	0.13648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1168.43	36	chr19	19892100	.	A	C	1168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.914;DP=439;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-1.374;SOR=0.808	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1088	9	0	1	0
chr19	20197340	20197340	C	G	exonic	ZNF486	.	stopgain	ZNF486:NM_052852:exon4:c.C630G:p.Y210X	.	433	1072	16	1	0	18	0.00832562	.	.	.	2811883	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0047	0.00339457	0.0047	0.0016	0.0030	0.0001	0.0030	0.0061	0.0011	0.0053	0.0045278	700	154602	rs184976796	0.0057	0.0057	0.0056	0.0058	0.0064	0.0056	0.0056	0.0062	0.0062	0.0011	0.0047	0.0006	0	0.0037	0.0063	0.0064	0.0045	0.0056	0.0044	0.0044	0.0048	0.0039	0.0067	0.0041	0.0040	0.0062	0.0060	0.0016	0.0066	0.0048	0.0003	0	0.0035	0.0068	0.0067	0.0057	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.017	0.00226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0527374	0.44031	T	0.155056	0.80503	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant|Recessive	High|High	4.910334	0.80791	27.4	0.98924855435612324	0.48639	0.04990	0.10763	N	AEFDBI	0.039349	0.05702	N	-0.251276041805254	0.31053	1.737418	-0.674202188330889	0.17607	0.9369882	1.41767813861451E-5	0.02871	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	0.814	0.814	0.17897	-0.643000	0.05518	.	.	0.258000	0.18382	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:1.0:0.0:0.0	6.977	0.23863	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006566	0.000000	0.009511	0.000000	0.000000	0.017241	0.003049	0.015152	0.05	1383.43	34	chr19	20197340	.	C	G	1383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=477;ExcessHet=0;FS=1.549;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=0.15;SOR=0.53	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1395,0,1252	9	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8514.43	92	chr19	20624371	.	G	*	8514.43	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.15;DP=689;ExcessHet=0.3476;FS=0.648;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.36;MQRankSum=-3.697;QD=16.53;ReadPosRankSum=1.87;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:51,0:51:0:.:.:0,0,0:.	4	3	0	3
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8119.48	92	chr19	20624379	.	C	*	8119.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.28;DP=686;ExcessHet=0.3476;FS=1.394;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.571;MQ=58.2;MQRankSum=-3.191;QD=15.67;ReadPosRankSum=0.506;SOR=0.54	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:51,0:51:0:.:.:0,0,0:.	4	3	0	3
chr19	20624804	20624804	G	C	exonic	ZNF626	.	nonsynonymous SNV	ZNF626:NM_001076675:exon4:c.C1073G:p.T358R	.	423	1030	69	0	0	69	0.0324096	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00052238757973	.	.	0.0029	0.0034	0.0017	0.0005	0.0015	0.0031	0.0022	0.0044	3.84e-05	1	26028	rs201684374	2.334e-05	0.0006	2.869e-05	1.794e-05	2.521e-05	1.68e-05	1.482e-05	3e-07	1.1e-07	0	0	3.839e-05	2.521e-05	0.0006	0	1.803e-06	0	1.162e-05	0.0005	0.0094	0.0004	0.0006	0.0009	0.0004	0.0004	0.0003	0.0003	0.0005	0.0036	0.0005	0.0003	0.0006	0.0005	0	0.0004	0.0010	0.0009	.	.	.	0.898	0.04587	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	-1.33	0.00679	N	3.18	0.07478	T	.	.	.	0.078	0.05287	-0.9935	0.31696	T	0.023	0.09696	T	8	0.010496229	0.00233	T	5.22E-4	0.00174	T	.	.	.	.	0.124217242631	0.12060	0.014608698947642334	0.01417	0.253056736109	0.27872	.	.	.	0.00116	0.00668	T	-0.335464	0.05708	T	-0.719647	0.04813	T	0.0263409838080406	0.01452	T	0.0307969	0.00205	T	0.05529088	0.10726	0.041683216	0.04792	0.05529088	0.10725	0.041683216	0.04792	-5.04	0.37271	T	.	.	0.180	0.44201	B	.;.	.;.	-0.312537	0.02564	0.311	0.10407538250522598	0.00130	0.00409	0.02034	N	AEFBHCI	0.029335	0.02749	N	-2.04734225397827	0.00167	0.007157553	-2.12141737029828	0.00167	0.007357579	4.19159266624134E-6	0.01202	0.651	0.46895	0	0.588015	0.36545	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	0.898	-1.8	0.07480	-9.429000	0.00015	.	.	-0.591000	0.04649	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4716:0.2552:0.2732:0.0	2.796	0.05071	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019556	0.040404	0.013587	0.008197	0.050000	0.017241	0.018293	0.011364	0.05	113.43	187	chr19	20624804	.	G	C	113.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=1105;ExcessHet=0;FS=4.965;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=59.15;MQRankSum=-7.878;QD=0.61;ReadPosRankSum=1.66;SOR=1.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0:75:99:.:.:0,120,1800:.	9	0	1	0
chr19	20806781	20806781	A	G	exonic	ZNF66	.	nonsynonymous SNV	ZNF66:NM_001355197:exon4:c.A1181G:p.K394R	.	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00339335260755	.	0.000599042	0.0011	0	9.694e-05	0	0	8.339e-05	0.0023	0.0074	0.0008861	137	154602	rs182710691	0.0006	0.0006	0.0003	0.0009	0.0078	0.0006	0.0006	0.0073	0.0071	0	6.832e-05	0	0	0	0.0025	7.191e-05	0.0006	0.0078	0.0004	0.0004	0.0002	0.0006	0.0081	0.0003	0.0003	0.0061	0.0054	0.0001	0	6.542e-05	0	0	0.0002	0	0.0002	0.0014	0.0081	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.07	0.20387	T	.	.	.	0.098	0.07949	.	.	.	.	.	.	.	0.0064466596	0.00146	T	0.003393	0.07603	T	.	.	.	.	0.530655398971	0.52714	0.001867889343568664	0.00172	.	.	.	.	.	0.011904	0.10552	T	-0.644809	0.00078	T	-0.694013	0.06159	T	.	.	.	0.720328	0.33319	T	0.04003843	0.05641	0.05763141	0.10512	0.04003843	0.05640	0.05763141	0.10511	-6.271	0.48493	T	.	.	0.096	0.15296	B	.	.	1.356420	0.17649	13.29	0.96973816004531155	0.31831	0.03573	0.08786	N	AEFDBHCI	0.063575	0.12293	N	.	.	.	.	.	.	8.405884905278E-5	0.04703	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	1.46	0.206	0.14485	1.614000	0.36522	.	.	-0.461000	0.05115	0.017000	0.19353	0.000000	0.08366	0.000000	0.00833	0.7134:0.0:0.0:0.2866	4.542	0.11462	982	0.03397	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1504.43	92	chr19	20806781	.	A	G	1504.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.819;DP=649;ExcessHet=0;FS=3.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.61;ReadPosRankSum=-0.13;SOR=0.593	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,116,1648	9	0	1	0
chr19	20949647	20949647	C	G	exonic	ZNF85	.	nonsynonymous SNV	ZNF85:NM_001256173:exon3:c.C941G:p.A314G,ZNF85:NM_003429:exon4:c.C1133G:p.A378G,ZNF85:NM_001256171:exon5:c.C1223G:p.A408G	.	375	1136	11	0	0	11	0.00481822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00126973633422	0.0005	0.000399361	0.0006	0	0.0003	0	0	0.0005	0.0011	0.0020	0.0005239	81	154602	rs146063134	0.0004	0.0004	0.0003	0.0005	0.0023	0.0004	0.0004	0.0020	0.0019	6.012e-05	0.0001	0	0	1.876e-05	0.0014	0.0003	0.0004	0.0023	0.0005	0.0005	0.0005	0.0005	0.0015	0.0004	0.0004	0.0007	0.0005	4.816e-05	0.0351	6.545e-05	0	0	9.446e-05	0	0.0005	0	0.0015	0.047	0.40319	D	0.042	0.52060	D	0.898	0.49442	P	0.808	0.58514	P	.	.	.	.	0.992349	0.23897	N	1.115	0.28702	L	2.13	0.19588	T	-2.66	0.62151	D	0.069	0.13626	-1.0873	0.05995	T	0.079	0.31254	T	9	0.023931056	0.00642	T	0.00127	0.01733	T	0.069	0.20116	.	.	0.274366138417	0.27033	0.004797676925637488	0.00451	0.00488180606936	0.00433	0.262346506119	0.05173	T	0.064196	0.32372	T	-0.645892	0.00077	T	-0.706723	0.05466	T	0.0237080765646791	0.01109	T	0.461354	0.13375	T	0.15592387	0.35214	0.1766237	0.40209	0.15592387	0.35213	0.1766237	0.40209	-6.406	0.49634	T	.	.	0.146	0.32324	B	.;.;.	.;.;.	1.320891	0.17251	13.05	0.97586435889627676	0.34764	0.02057	0.06141	N	AEFBCI	.	.	.	-0.513198518143494	0.21652	1.150691	-0.735954771581635	0.16068	0.8482777	1.09068303503754E-5	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	1.35	1.35	0.21078	-0.190000	0.09612	.	.	0.493000	0.22426	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.4775:0.5225:0.0	6.830	0.23090	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002125	0.000000	0.000000	0.008264	0.000000	0.000000	0.003106	0.003788	0.05	706.43	68	chr19	20949647	.	C	G	706.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.895;DP=456;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.207;SOR=0.892	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	9	0	1	0
chr19	20949670	20949670	A	T	exonic	ZNF85	.	nonsynonymous SNV	ZNF85:NM_001256173:exon3:c.A964T:p.T322S,ZNF85:NM_003429:exon4:c.A1156T:p.T386S,ZNF85:NM_001256171:exon5:c.A1246T:p.T416S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00063649670564	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002264	35	154602	rs529155145	0.0001	0.0001	5.448e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	0	1.657e-05	0.0022	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.115	0.28520	T	0.189	0.34837	T	0.054	0.24078	B	0.142	0.33681	B	.	.	.	.	1	0.08975	N	0.58	0.15352	N	3.21	0.07125	T	-3.35	0.67589	D	0.043	0.03502	-1.0059	0.28186	T	0.017	0.07187	T	9	0.012609988	0.00270	T	6.36E-4	0.00319	T	0.023	0.04649	0.338	0.32816	0.148003135375	0.14442	0.004208923889227671	0.00394	0.00575121171634	0.00504	0.253939956427	0.04195	T	0.067733	0.33278	T	-0.689641	0.00042	T	-0.770661	0.02746	T	0.0286268917252715	0.01780	T	0.0953905	0.01061	T	0.1487764	0.33950	0.097073466	0.23091	0.1487764	0.33949	0.097073466	0.23090	-6.996	0.54537	T	.	.	0.159	0.35119	B	.;.;.	.;.;.	0.988683	0.13663	10.20	0.70569711356515796	0.09339	0.04963	0.10728	N	AEFBCI	.	.	.	-1.09515863081429	0.06732	0.3107404	-1.21297993799094	0.05701	0.2723685	8.86229337463511E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	1.35	-0.176	0.12658	-0.821000	0.04560	.	.	0.617000	0.49538	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.5613:0.0:0.1841:0.2546	2.166	0.03603	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000531	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	421.43	68	chr19	20949670	.	A	T	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.48;ReadPosRankSum=-0.856;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1077	9	0	1	0
chr19	21183736	21183736	A	G	exonic	ZNF431	.	nonsynonymous SNV	ZNF431:NM_001319124:exon5:c.A1436G:p.H479R,ZNF431:NM_133473:exon5:c.A1433G:p.H478R,ZNF431:NM_001319126:exon6:c.A1160G:p.H387R,ZNF431:NM_001319127:exon6:c.A1112G:p.H371R	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.00739976855454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.004	0.74150	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.798611	0.29142	N	2.785	0.81254	M	-0.27	0.67367	T	-7.58	0.95276	D	0.209	0.23253	-0.3862	0.72460	T	0.472	0.79695	T	9	0.78775024	0.78393	D	0.007	0.19630	T	0.231	0.53208	0.775	0.90080	0.669898965789	0.66711	0.12047323719260056	0.11974	0.550751557973	0.51932	0.522294342518	0.41950	T	0.32579	0.69648	T	-0.0477848	0.44783	T	-0.306416	0.44042	T	0.981172740459442	0.73763	D	0.913309	0.69109	D	0.29948932	0.52859	0.22288305	0.47147	0.29948932	0.52859	0.22288305	0.47146	-10.685	0.77902	D	.	.	0.845	0.79500	P	.	.	2.437996	0.31376	18.72	0.98728672334215895	0.45318	0.82137	0.41411	D	AEFBCI	0.302120	0.41045	N	0.194709525310886	0.50944	3.279832	-0.0752933973573061	0.36415	2.11891	0.00163163268491718	0.08729	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.04	1.04	0.19220	6.584000	0.73948	.	.	0.563000	0.28513	1.000000	0.71638	0.000000	0.08366	0.049000	0.15107	1.0:0.0:0.0:0.0	6.994	0.23951	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1327.43	35	chr19	21183736	.	A	G	1327.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.193;DP=422;ExcessHet=0;FS=2.45;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.85;MQRankSum=1.1;QD=11.96;ReadPosRankSum=-1.483;SOR=0.6	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1071	9	0	1	0
chr19	21294212	21294213	AG	-	exonic	ZNF708	.	frameshift deletion	ZNF708:NM_001297561:exon3:c.561_562del:p.Y188Qfs*3,ZNF708:NM_001297560:exon4:c.561_562del:p.Y188Qfs*3,ZNF708:NM_021269:exon4:c.753_754del:p.Y252Qfs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.477e-06	5.472e-06	8.174e-06	2.752e-06	2.987e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0	5.396e-06	1.656e-05	0	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1226.39	34	chr19	21294211	.	TAG	T	1226.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.374;DP=429;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=-1.194;QD=14.96;ReadPosRankSum=1.58;SOR=0.972	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	9	0	1	0
chr19	21294236	21294236	T	A	exonic	ZNF708	.	nonsynonymous SNV	ZNF708:NM_001297561:exon3:c.A538T:p.I180L,ZNF708:NM_001297560:exon4:c.A538T:p.I180L,ZNF708:NM_021269:exon4:c.A730T:p.I244L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00171705738883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.129e-06	2.319e-05	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	1.656e-05	2.319e-05	6.58e-06	6.57e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.165	0.23271	T	0.093	0.39799	T	.	.	.	.	.	.	.	.	.	.	0.982533	0.24956	N	.	.	.	2.24	0.17923	T	-0.65	0.18877	N	0.059	0.03069	-0.9781	0.35435	T	0.014	0.05465	T	9	0.051650822	0.05079	T	0.001717	0.02882	T	0.024	0.04979	.	.	0.165133752707	0.16062	0.010182798639410778	0.00980	0.105121137339	0.11884	0.292081832886	0.09226	T	.	.	.	-0.351257	0.04648	T	-0.742333	0.03793	T	0.106490677033784	0.13057	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32969	B	.	.	0.446572	0.08165	4.900	0.89073130106039755	0.18488	0.13350	0.17806	N	AEFBI	0.051525	0.09111	N	-1.15522017357557	0.05694	0.2602689	-1.13496951564565	0.07041	0.3410368	0.00656685664709986	0.11251	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.05	1.05	0.19280	-0.464000	0.06765	.	.	-0.261000	0.06906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.0:1.0	7.056	0.24278	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1160.43	34	chr19	21294236	.	T	A	1160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.585;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.82;MQRankSum=-1.582;QD=11.16;ReadPosRankSum=1.12;SOR=0.71	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	9	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	1141.45	50	chr19	21383191	.	G	A	1141.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.762;DP=611;ExcessHet=0.7463;FS=22.899;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.49;MQRankSum=-8.835;QD=3.29;ReadPosRankSum=-2.09;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,12:99:99:0|1:21383168_A_G:242,0,3617:21383168	7	0	3	0
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	682.45	50	chr19	21383196	.	T	C	682.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.86;DP=598;ExcessHet=0.7463;FS=20.497;InbreedingCoeff=-0.1764;MLEAC=3;MLEAF=0.15;MQ=58.72;MQRankSum=-9.572;QD=2.04;ReadPosRankSum=-2.152;SOR=2.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,7:94:32:0|1:21383168_A_G:32,0,3632:21383168	7	0	3	0
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	455.23	50	chr19	21383203	.	A	AACTC	455.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.81;DP=588;ExcessHet=0.2348;FS=29.19;InbreedingCoeff=-0.1168;MLEAC=2;MLEAF=0.1;MQ=58.89;MQRankSum=-9.611;QD=1.96;ReadPosRankSum=-1.622;SOR=2.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:87,6:93:10:0|1:21383168_A_G:0,10,3645:21383168	8	0	2	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	371.89	50	chr19	21383205	.	GTCAA	G	371.89	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.9;DP=592;ExcessHet=0;FS=30.89;InbreedingCoeff=-0.0781;MLEAC=1;MLEAF=0.05;MQ=58.91;MQRankSum=-9.454;QD=2.93;ReadPosRankSum=-1.376;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:91,6:97:22:0|1:21383168_A_G:0,22,3825:21383168	9	0	1	0
chr19	21383216	21383216	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A670G:p.I224V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297183634	6.926e-07	3.424e-05	0	1.391e-06	9.106e-07	0	0	.	.	0	0	0	0	0	0	9.106e-07	0	0	6.679e-06	0.0003	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	152.43	50	chr19	21383216	.	A	G	152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.77;DP=459;ExcessHet=0;FS=26.477;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=-10.41;QD=1.39;ReadPosRankSum=-1.362;SOR=4.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1242:.	9	0	1	0
chr19	21383222	21383222	C	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.C676A:p.H226N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370539829	0	2.739e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.693e-06	0.0003	1.307e-05	0	1.491e-05	0	0	.	.	0	0	0	0	0	0	0	1.491e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	161.43	50	chr19	21383222	.	C	A	161.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.76;DP=456;ExcessHet=0;FS=25.992;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.63;MQRankSum=-10.27;QD=1.51;ReadPosRankSum=-0.687;SOR=4.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1242:.	9	0	1	0
chr19	21383228	21383228	A	G	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.A682G:p.R228G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224923620	0	2.466e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.677e-06	0.0004	1.304e-05	0	1.489e-05	0	0	.	.	0	0	0	0	0	0	0	1.489e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	59.43	50	chr19	21383228	.	A	G	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=445;ExcessHet=0;FS=20.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.58;MQRankSum=-9.721;QD=0.62;ReadPosRankSum=-1.437;SOR=4.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1242:.	9	0	1	0
chr19	21383229	21383229	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G683A:p.R228K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307063752	0	2.465e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.692e-06	0.0003	1.305e-05	0	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	62.43	50	chr19	21383229	.	G	A	62.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=444;ExcessHet=0;FS=20.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.57;MQRankSum=-9.669;QD=0.66;ReadPosRankSum=-1.649;SOR=4.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1242:.	9	0	1	0
chr19	21383231	21383231	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G685A:p.E229K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232738302	0	2.329e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.685e-06	0.0004	1.304e-05	0	1.49e-05	0	0	.	.	0	0	0	0	0	0	0	1.49e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	68.43	50	chr19	21383231	.	G	A	68.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.68;DP=442;ExcessHet=0;FS=17.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.54;MQRankSum=-9.565;QD=0.74;ReadPosRankSum=-2.063;SOR=4.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1242:.	9	0	1	0
chr19	21383236	21383240	TTCTT	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.690_694del:p.N230Kfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1282987711	0	1.781e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.573e-06	0.0003	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	68.39	50	chr19	21383235	.	ATTCTT	A	68.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.11;DP=442;ExcessHet=0;FS=17.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.54;MQRankSum=-9.565;QD=0.74;ReadPosRankSum=-1.967;SOR=4.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1242:.	9	0	1	0
chr19	21383242	21383242	-	CCCA	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.696_697insCCCA:p.Q233Pfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486170617	0	1.644e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.576e-06	0.0003	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	35.39	50	chr19	21383242	.	C	CCCCA	35.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=438;ExcessHet=0;FS=14.138;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.51;MQRankSum=-9.354;QD=0.4;ReadPosRankSum=-2.421;SOR=3.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1242:.	9	0	1	0
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2025.92	50	chr19	21383393	.	G	*	2025.92	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.512;DP=557;ExcessHet=10.3881;FS=1.769;InbreedingCoeff=-0.6667;MLEAC=3;MLEAF=0.15;MQ=59.92;MQRankSum=0;QD=4.73;ReadPosRankSum=-0.219;SOR=0.6	GT:AD:DP:GQ:PL	0/0:20,0:38:99:394,454,1099	7	0	3	0
chr19	21536295	21536295	T	A	exonic	ZNF429	.	nonsynonymous SNV	ZNF429:NM_001346916:exon3:c.T50A:p.F17Y,ZNF429:NM_001001415:exon4:c.T242A:p.F81Y,ZNF429:NM_001346912:exon4:c.T236A:p.F79Y,ZNF429:NM_001346914:exon4:c.T146A:p.F49Y,ZNF429:NM_001346913:exon5:c.T146A:p.F49Y,ZNF429:NM_001346915:exon5:c.T146A:p.F49Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00144174704633	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.405e-06	1.368e-06	0	2.83e-06	2.47e-05	2.3e-07	9e-08	4.1e-06	1.53e-06	0	0	0	0	0	0	0	0	2.47e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.383	0.25591	T	0.997	0.70673	D	0.989	0.78396	D	.	.	.	.	1	0.08975	N	2.2	0.62015	M	3.25	0.06762	T	-2.68	0.57275	D	0.244	0.32148	-1.0002	0.29860	T	0.041	0.17573	T	9	0.1538648	0.29034	T	0.001442	0.02164	T	0.040	0.10527	0.275	0.22687	0.110078149338	0.10416	0.009690869746312482	0.00931	0.15326966785	0.17296	0.466576367617	0.34211	T	0.03375	0.23043	T	-0.305842	0.08119	T	-0.677097	0.07161	T	0.425138741731644	0.29880	T	0.463154	0.14720	T	0.11131964	0.26307	0.08127684	0.18457	0.11131964	0.26307	0.08127684	0.18457	-5.571	0.42526	T	.	.	0.093	0.31608	B	.;.	.;.	1.832998	0.23289	15.96	0.89216345620272497	0.18608	0.00130	0.00805	N	AEFBCI	0.020918	0.00876	N	-0.5275966608558	0.21192	1.122834	-0.857418098847048	0.13109	0.67825	0.54525536615808	0.21288	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	1.32	-2.64	0.05757	0.027000	0.13512	.	.	0.327000	0.19478	0.004000	0.16614	0.000000	0.08366	0.094000	0.17991	0.3231:0.2187:0.2138:0.2444	0.052	0.00011	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1347.43	33	chr19	21536295	.	T	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.092;DP=438;ExcessHet=0;FS=5.437;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.964;SOR=1.348	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	9	0	1	0
chr19	21808895	21808895	C	T	exonic	ZNF43	.	nonsynonymous SNV	ZNF43:NM_001256651:exon3:c.G947A:p.R316Q,ZNF43:NM_001256654:exon3:c.G947A:p.R316Q,ZNF43:NM_001256653:exon4:c.G1169A:p.R390Q,ZNF43:NM_003423:exon4:c.G1142A:p.R381Q,ZNF43:NM_001256650:exon6:c.G1124A:p.R375Q,ZNF43:NM_001256648:exon7:c.G1124A:p.R375Q,ZNF43:NM_001256649:exon7:c.G1124A:p.R375Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000970814847618	7.7e-05	0.000199681	4.128e-05	9.707e-05	0	0	0	6.004e-05	0	0	5.82e-05	9	154602	rs185493878	4.584e-05	4.72e-05	5.174e-05	3.988e-05	0.0002	3.662e-05	3.348e-05	4.092e-05	3.742e-05	2.988e-05	2.236e-05	0	0.0001	0	0.0002	5.217e-05	3.313e-05	0	4.002e-05	5.291e-05	3.906e-05	4.104e-05	7.371e-05	1.737e-05	1.144e-05	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	4.441e-05	0	0	0.825	0.02921	T	1.0	0.01155	T	0.041	0.21357	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-0.225	0.03956	N	3.19	0.07353	T	-0.19	0.09965	N	0.058	0.03613	-0.9253	0.44815	T	0.007	0.02518	T	9	0.033709824	0.01555	T	9.71E-4	0.01003	T	0.011	0.01250	.	.	0.193865811164	0.18958	0.00888841779710105	0.00851	0.0253099499521	0.02582	0.258942961693	0.04766	T	0.022673	0.17437	T	-0.510352	0.00500	T	-0.789334	0.02183	T	0.0282589742835046	0.01727	T	0.0342966	0.00229	T	0.018707262	0.00393	0.029916361	0.01383	0.018707262	0.00393	0.029916361	0.01383	-4.112	0.25481	T	.	.	0.12	0.31100	B	.;.;.;.;.	.;.;.;.;.	0.119688	0.05175	1.691	0.58500280611248889	0.06007	0.00000	0.00017	N	AEFBHCI	0.012528	0.00139	N	-1.62774167285205	0.01132	0.04918485	-1.69064715971469	0.01179	0.05306784	4.34651278043083E-4	0.06970	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	1.68	-2.26	0.06478	-7.176000	0.00053	.	.	0.290000	0.18761	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1539:0.4012:0.4449	4.043	0.09242	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1384.43	35	chr19	21808895	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.509;DP=450;ExcessHet=0;FS=0.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=1.06;QD=12.25;ReadPosRankSum=1.27;SOR=0.66	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1194	9	0	1	0
chr19	21972027	21972027	A	T	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.T3007A:p.C1003S	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0127552100504	0.0026	0.00119808	0.0024	0.0003	0.0018	0	0.0011	0.0038	0	0.0002	0.0023092	357	154602	rs181871198	0.0035	0.0035	0.0035	0.0035	0.0042	0.0034	0.0034	0.0041	0.0040	0.0007	0.0023	0.0017	0	0.0011	0.0024	0.0042	0.0027	0.0007	0.0025	0.0025	0.0028	0.0022	0.0041	0.0023	0.0022	0.0037	0.0036	0.0008	0	0.0027	0.0023	0	0.0008	0.0034	0.0041	0.0033	0.0008	0.0	0.91255	D	0.018	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	3.9	0.96120	H	-1.95	0.85003	D	-6.11	0.90023	D	0.411	0.45142	-0.2286	0.76924	T	0.625	0.86805	D	8	0.008183271	0.00186	T	0.012755	0.31594	T	0.298	0.61843	.	.	0.919954206972	0.91914	0.04710017405761299	0.04653	0.0494434710685	0.05415	0.557136833668	0.46863	T	0.04547	0.27132	T	-0.250673	0.14016	T	-0.134324	0.60607	T	0.125758097410143	0.14985	T	0.0730927	0.00774	T	0.71712226	0.79001	0.7036205	0.82531	0.71712226	0.79003	0.7036205	0.82532	-9.502	0.70871	D	.	.	0.699	0.72906	P	.;.	.;.	2.938460	0.39058	20.9	0.98202972220813578	0.39140	0.71944	0.35234	D	AEFBCI	0.363035	0.45207	N	0.124559381030849	0.47610	2.984333	-0.0554330176747897	0.37256	2.178919	3.74685629436072E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.39	2.39	0.28492	6.679000	0.74347	.	.	0.605000	0.46263	0.997000	0.40164	0.000000	0.08366	0.226000	0.22626	1.0:0.0:0.0:0.0	9.158	0.36164	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004251	0.000000	0.006812	0.008197	0.000000	0.008621	0.003106	0.000000	0.05	1328.43	122	chr19	21972027	.	A	T	1328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.155;DP=752;ExcessHet=0;FS=4.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.28;MQRankSum=1.42;QD=10.8;ReadPosRankSum=-0.122;SOR=0.492	GT:AD:DP:GQ:PL	0/0:79,0:79:99:0,120,1800	9	0	1	0
chr19	22073501	22073501	T	C	exonic	ZNF257	.	nonsynonymous SNV	ZNF257:NM_033468:exon3:c.T163C:p.C55R,ZNF257:NM_001316996:exon4:c.T67C:p.C23R	.	429	1070	21	2	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0098	0.00519169	0.0078	0.0115	0.0034	0.0001	0.0106	0.0103	0.0066	0.0018	0.0073673	1139	154602	rs140340371	0.0091	0.0092	0.0092	0.0090	0.0122	0.0090	0.0089	0.0107	0.0103	0.0117	0.0041	0.0034	0.0001	0.0095	0.0122	0.0102	0.0082	0.0028	0.0093	0.0093	0.0091	0.0094	0.0118	0.0089	0.0087	0.0109	0.0106	0.0118	0	0.0048	0.0035	0.0004	0.0111	0.0102	0.0099	0.0114	0.0023	.	.	.	0.17	0.36630	T	0.046	0.21875	B	0.03	0.21741	B	.	.	.	.	0.999996	0.08975	N	0.525	0.13617	N	5.74	0.00711	T	.	.	.	0.394	0.43514	-1.0199	0.23747	T	0.028	0.11838	T	8	0.0069460273	0.00158	T	.	.	.	.	.	.	.	0.260249123532	0.25628	0.16124184765088048	0.16045	0.0335249413607	0.03509	0.448565125465	0.31748	T	0.063971	0.32312	T	-0.626921	0.00100	T	-0.66391	0.08005	T	0.00530471252972828	0.00057	T	0.0126987	0.00070	T	0.41284332	0.61612	0.438038	0.67203	0.41284332	0.61613	0.438038	0.67203	-9.446	0.70523	D	.	.	0.134	0.30945	B	.;.;.	.;.;.	0.681434	0.10498	7.214	0.55642375102258312	0.05385	0.00101	0.00653	N	AEFBI	0.027052	0.02141	N	-1.21465401055954	0.04787	0.2167791	-1.29097713094608	0.04552	0.2149569	1.1391893242295E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.86	-0.384	0.11853	0.223000	0.17501	.	.	0.335000	0.19678	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.4405:0.0:0.5595	2.618	0.04611	988	0.01987	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.005051	0.017663	0.023392	0.000000	0.043103	0.009146	0.015152	0.1	5894.14	251	chr19	22073501	.	T	C	5894.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.727;DP=765;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.054;SOR=0.679	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1053	8	0	2	0
chr19	22663887	22663887	A	C	exonic	ZNF492	.	nonsynonymous SNV	ZNF492:NM_020855:exon4:c.A218C:p.K73T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	.	0.00239617	0.0021	0.0002	0	0.0227	0.0004	0.0005	0.0044	0.0009	0.00152	235	154602	rs182350726	0.0006	0.0006	0.0006	0.0007	0.0118	0.0006	0.0006	0.0109	0.0106	0	0.0001	0.0039	0.0118	7.579e-05	0.0004	9.637e-05	0.0019	0.0012	0.0009	0.0009	0.0007	0.0011	0.0181	0.0007	0.0007	0.0151	0.0140	0	0	0.0001	0.0040	0.0181	0	0	0.0001	0.0014	0.0027	0.006	0.61437	D	0.067	0.44302	T	0.992	0.64738	D	0.917	0.65306	D	.	.	.	.	1	0.08975	N	3.3	0.90472	M	3.15	0.07820	T	-4.75	0.80256	D	0.156	0.16168	-1.0747	0.08410	T	0.040	0.17191	T	9	0.006600052	0.00149	T	.	.	.	0.039	0.10176	.	.	0.373173300195	0.36924	0.007697829241541273	0.00735	2.30488031714	0.96506	0.403195083141	0.25514	T	0.021306	0.16617	T	-0.548209	0.00299	T	-0.539969	0.18300	T	0.0913139892996536	0.11373	T	0.641436	0.25361	T	0.18524426	0.39878	0.12098622	0.29193	0.18524426	0.39878	0.12098622	0.29192	-6.798	0.52544	T	.	.	0.106	0.19679	B	.	.	1.862249	0.23653	16.10	0.98899941722877971	0.48163	0.02431	0.06858	N	AEBI	0.042936	0.06725	N	-0.471710861083964	0.23011	1.232725	-0.814302994396891	0.14149	0.7378355	1.45021957866012E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.17	-0.16	0.12720	0.228000	0.17594	.	.	0.264000	0.18430	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7056:0.0:0.2944:0.0	3.234	0.06357	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000541	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.000000	0.05	1152.43	60	chr19	22663887	.	A	C	1152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=420;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.99;MQRankSum=1.09;QD=14.23;ReadPosRankSum=-0.076;SOR=0.802	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	9	0	1	0
chr19	22663895	22663895	T	A	exonic	ZNF492	.	nonsynonymous SNV	ZNF492:NM_020855:exon4:c.T226A:p.C76S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000492105191183	.	.	4.997e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs62118831	1.643e-05	1.726e-05	8.52e-06	2.445e-05	0.0002	1.094e-05	9.14e-06	0.0002	0.0001	0	0	0	0	0	0	1.867e-06	1.729e-05	0.0002	1.329e-05	1.317e-05	0	2.723e-05	0.0004	2.21e-06	8.3e-07	7.347e-05	3.05e-05	0	0	0	0	0	0	0	0	0	0.0004	0.008	0.58626	D	0.445	0.13140	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	3.24	0.06845	T	1.74	0.00550	N	0.042	0.01498	-0.9545	0.40185	T	0.011	0.03996	T	9	0.03200808	0.01345	T	4.92E-4	0.00143	T	0.017	0.02790	0.516	0.61611	0.117506650769	0.11410	0.010476025276238	0.01008	1.44831164804	0.86095	0.349095225334	0.17789	T	5.09E-4	0.00188	T	-0.655531	0.00067	T	-0.884566	0.00617	T	0.0644635543814978	0.07851	T	0.119588	0.00922	T	0.101327084	0.23935	0.13376671	0.32068	0.101327084	0.23935	0.13376671	0.32068	-0.072	0.00375	T	.	.	0.112	0.22061	B	.	.	0.735010	0.11045	7.698	0.3117240056194725	0.01743	0.00042	0.00346	N	AEFBI	0.034291	0.04221	N	-1.69765843561396	0.00850	0.0367745	-1.78118629272536	0.00821	0.0366803	2.48937154139745E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.769	-0.852	0.10171	-3.676000	0.00444	.	.	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2798:0.0:0.7202	4.625	0.11858	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1668.16	70	chr19	22663895	.	T	A	1668.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.601;DP=436;ExcessHet=0.2348;FS=2.158;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-2.685;QD=11.2;ReadPosRankSum=-0.141;SOR=0.944	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,993	9	0	1	0
chr19	22757930	22757930	C	T	exonic	ZNF99	.	stopgain	ZNF99:NM_001080409:exon4:c.G1979A:p.W660X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.00399361	0.0019	0.0001	0	0.0215	0.0002	0.0004	0.0045	0.0008	0.0017788	275	154602	rs148884059	0.0007	0.0007	0.0007	0.0008	0.0155	0.0007	0.0007	0.0145	0.0141	2.988e-05	8.949e-05	0.0039	0.0155	7.49e-05	0.0003	9.265e-05	0.0022	0.0012	0.0013	0.0013	0.0010	0.0015	0.0282	0.0011	0.0011	0.0242	0.0227	5.643e-05	0	0.0004	0.0043	0.0282	0	0	0.0001	0.0016	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.025	0.00571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.171458	0.25013	T	0.00879901	0.70905	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.612865	0.73176	25.9	0.87854393034042289	0.17531	0.00088	0.00587	N	AEFBI	0.013149	0.00165	N	-0.280667390874064	0.29894	1.661958	-0.766582310151963	0.15315	0.8048706	3.71806308195691E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.57	0.05885	-2.924000	0.00758	.	.	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3589:0.3515:0.2897	4.301	0.10369	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001060	0.000000	0.001366	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1943.43	141	chr19	22757930	.	C	T	1943.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.433;DP=596;ExcessHet=0;FS=1.419;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.1;MQRankSum=-1.036;QD=15.3;ReadPosRankSum=-1.248;SOR=0.655	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1410	9	0	1	0
chr19	22976595	22976595	C	T	exonic	ZNF728	.	nonsynonymous SNV	ZNF728:NM_001267716:exon4:c.G742A:p.V248I	.	418	1088	16	0	0	16	0.00729927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00638978	0.0095	0.0006	0.0040	0.0006	0.0286	0.0083	0.0136	0.0196	0.0083569	1292	154602	rs144080172	0.0083	0.0083	0.0079	0.0086	0.0184	0.0081	0.0081	0.0176	0.0173	0.0012	0.0032	0.0048	0.0007	0.0247	0.0024	0.0076	0.0072	0.0184	0.0071	0.0070	0.0056	0.0087	0.0212	0.0067	0.0066	0.0178	0.0166	0.0011	0	0.0051	0.0041	0.0006	0.0332	0.0037	0.0070	0.0039	0.0212	.	.	.	0.473	0.12142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.10161	N	2.3	0.16953	T	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	0.004285425	0.00086	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.0031814532368857817	0.00297	0.0224550323184	0.02262	0.225423663855	0.01647	T	0.001299	0.00775	T	-0.767209	0.00013	T	-0.859882	0.00844	T	.	.	.	0.168083	0.01566	T	0.013797643	0.00070	0.031487882	0.01744	0.013797643	0.00070	0.031487882	0.01744	-4.486	0.30705	T	.	.	0.080	0.07554	B	.	.	-0.321829	0.02522	0.300	0.40345600745476201	0.02841	0.00004	0.00092	N	AEFBHCI	0.013671	0.00190	N	.	.	.	.	.	.	2.29534227667703E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.945	-1.69	0.07747	-1.672000	0.02054	.	.	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.419:0.0:0.581	5.127	0.14220	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1194.43	34	chr19	22976595	.	C	T	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.007;DP=485;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.127;SOR=0.703	GT:AD:DP:GQ:PL	0/1:57,47:104:99:1206,0,1476	9	0	1	0
chr19	23146120	23146120	-	GAT	exonic	ZNF730	.	nonframeshift insertion	ZNF730:NM_001277403:exon4:c.1076_1077insGAT:p.K359_I360insM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	2.738e-06	2.731e-06	2.758e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.703e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	703.39	77	chr19	23146120	.	A	AGAT	703.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.75;ReadPosRankSum=-1.209;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,102,1027:.	9	0	1	0
chr19	23827184	23827184	T	-	exonic	RPSAP58	.	frameshift deletion	RPSAP58:NM_001355283:exon4:c.23delT:p.L8Rfs*3,RPSAP58:NM_001355287:exon5:c.23delT:p.L8Rfs*3	.	50	1471	1	0	0	1	0.000339789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.851e-06	2.834e-06	2.527e-06	6.996e-06	1.763e-06	1.14e-06	7.7e-07	.	.	0	0	0	0	0	0	1.763e-06	7.608e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	53.55	7	chr19	23827183	.	CT	C	53.55	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.524;DP=70;ExcessHet=0;FS=0;InbreedingCoeff=-0.0662;MLEAC=1;MLEAF=0.05;MQ=24;MQRankSum=0;QD=10.71;ReadPosRankSum=-1.036;SOR=0.446	GT:AD:DP:GQ:PL	0/0:9,0:9:24:0,24,360	9	0	1	0
chr19	23932577	23932584	TTTATAAA	-	exonic	ZNF726	.	frameshift deletion	ZNF726:NM_001244038:exon4:c.461_468del:p.I158Kfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.383e-05	0	0	0.0002	0	0	0	0	6.5e-06	1	154602	rs760287729	4.26e-06	5.475e-06	2.822e-06	5.718e-06	5.429e-05	1.53e-06	1.01e-06	8.99e-06	3.36e-06	0	5.429e-05	0	0	0	0	3.679e-06	0	0	6.57e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	889.09	38	chr19	23932576	.	TTTTATAAA	T	889.09	.	AC=2;AF=0.1;AN=20;DP=247;ExcessHet=0;FS=0;InbreedingCoeff=0.997;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.62;SOR=0.99	GT:AD:DP:GQ:PL	0/0:11,0:11:24:0,24,360	9	1	0	0
chr19	30009234	30009239	GATGAC	-	exonic	URI1	.	nonframeshift deletion	URI1:NM_001252641:exon8:c.862_867del:p.D292_D293del,URI1:NM_003796:exon8:c.916_921del:p.D310_D311del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0.0002	0	0.0002	0.0002	0	0.0002	3.84e-05	1	26028	rs775535103	8.478e-05	0.0002	9.742e-05	7.202e-05	0.0001	7.258e-05	6.801e-05	7.926e-05	7.406e-05	0	0.0001	0	0	9.453e-05	0	9.43e-05	1.666e-05	8.147e-05	0.0001	0.0002	0.0002	0.0001	0.0002	9.77e-05	8.281e-05	0.0001	0.0001	7.238e-05	0	0.0001	0	0.0002	9.484e-05	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1033.39	99	chr19	30009233	.	TGATGAC	T	1033.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=981;ExcessHet=0;FS=3.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=3.28;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:140,0:140:99:.:.:0,120,1800:.	9	0	1	0
chr19	30445577	30445577	G	A	exonic	ZNF536	.	nonsynonymous SNV	ZNF536:NM_001352260:exon2:c.G2015A:p.R672H,ZNF536:NM_014717:exon2:c.G2015A:p.R672H,ZNF536:NM_001376110:exon3:c.G2015A:p.R672H,ZNF536:NM_001376111:exon3:c.G2015A:p.R672H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.0228019778218	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409346557	6.845e-07	6.84e-07	1.362e-06	0	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.166	0.39340	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	1.1	0.28011	L	2.99	0.09635	T	-0.69	0.19720	N	0.79	0.78641	-1.0554	0.12934	T	0.049	0.20987	T	10	0.35147578	0.51997	T	0.022802	0.45720	T	0.245	0.55201	.	.	0.204265027416	0.20035	0.30503438999123417	0.30416	2.08877544307	0.94702	0.760856807232	0.76057	T	0.011627	0.14923	T	-0.0844035	0.38997	T	-0.276151	0.47198	T	0.873841524124146	0.52371	D	0.959604	0.85028	D	0.14585385	0.33415	0.14245452	0.33888	0.14585385	0.33414	0.14245452	0.33887	-5.452	0.41417	T	.	.	0.307	0.53564	B	.;.	.;.	5.682143	0.93006	33	0.99917972248775433	0.98518	0.98765	0.86563	D	AEFDBI	0.908830	0.86465	D	0.602692948853097	0.73343	5.950903	0.653921711295097	0.78904	6.97086	0.999999876047756	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	9.503000	0.96975	11.794000	0.96459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	19.215	0.93760	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	995.43	38	chr19	30445577	.	G	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.4;DP=436;ExcessHet=0;FS=6.767;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.204;SOR=1.101	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1077	9	0	1	0
chr19	31278387	31278387	T	C	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.A1406G:p.E469G	.	425	1043	52	2	0	56	0.0261438	.	.	.	2811945	not_provided|TSHZ3-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0085	0.00359425	0.0081	0.0020	0.0055	0	0.0070	0.0114	0.0077	0.0047	0.0079947	1236	154602	rs143453460	0.0088	0.0088	0.0088	0.0089	0.0331	0.0087	0.0087	0.0293	0.0278	0.0014	0.0075	0.0135	5.038e-05	0.0072	0.0331	0.0096	0.0088	0.0051	0.0079	0.0079	0.0078	0.0079	0.0118	0.0075	0.0073	0.0111	0.0109	0.0016	0.0088	0.0086	0.0132	0.0002	0.0083	0.0204	0.0118	0.0090	0.0050	0.095	0.31235	T	0.064	0.44905	T	0.998	0.73220	D	0.979	0.74454	D	0.000000	0.84330	D	0.052145	1	0.81001	D	2.845	0.82663	M	1.16	0.38073	T	-2.53	0.54864	D	0.672	0.67995	-0.8215	0.53840	T	0.158	0.49178	T	10	0.00796181	0.00181	T	.	.	.	0.099	0.28413	.	.	0.668435367997	0.66563	0.44621226733114294	0.44539	0.575786504129	0.53563	0.549082219601	0.45728	T	0.212995	0.57419	T	-0.405	0.02146	T	-0.342207	0.40095	T	0.0473550736142879	0.05028	T	0.853215	0.53849	D	0.26470783	0.49538	0.26104176	0.51876	0.26470783	0.49538	0.26104176	0.51875	-7.154	0.55150	T	.	.	0.269	0.50343	B	.	.	3.996679	0.58859	24.0	0.99862304394547563	0.94093	0.97677	0.76345	D	AEFBI	0.849500	0.76632	D	0.675782667056535	0.78046	6.793271	0.6573475887853	0.79160	7.023753	0.999993336927848	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.827000	0.68989	7.888000	0.72886	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:0.0:1.0	15.718	0.77443	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.032226	0.020202	0.036685	0.038012	0.000000	0.025862	0.012195	0.037879	0.05	2631.43	35	chr19	31278387	.	T	C	2631.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.457;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.547;SOR=0.69	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	9	0	1	0
chr19	31279167	31279167	G	A	exonic	TSHZ3	.	nonsynonymous SNV	TSHZ3:NM_020856:exon2:c.C626T:p.T209M	.	.	.	.	.	.	.	.	.	.	.	3487002	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.452	0.0498371643909	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1210168815	1.917e-05	1.984e-05	2.315e-05	1.514e-05	3.479e-05	1.329e-05	1.144e-05	1.461e-05	1.228e-05	2.989e-05	0	0	0	0	0	2.16e-05	0	3.479e-05	6.572e-06	6.567e-06	1.285e-05	0	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.055638	1	0.81001	D	2.175	0.60977	M	2.04	0.20808	T	-3.2	0.64710	D	0.861	0.85766	-0.7918	0.55624	T	0.170	0.51133	T	10	0.82841927	0.82012	D	0.049837	0.63984	D	0.452	0.75211	.	.	0.501308276186	0.49768	0.6108650900503092	0.61018	1.0736861455	0.76906	0.876175522804	0.93438	D	0.714105	0.91868	D	0.080176	0.62061	D	-0.0589633	0.66405	T	0.970334053039551	0.68911	D	0.997	0.98879	D	0.44393432	0.63655	0.45563993	0.68354	0.44393432	0.63656	0.45563993	0.68355	-11.826	0.83993	D	.	.	0.814	0.77921	P	.	.	4.849901	0.79257	27.1	0.99881475483367532	0.95733	0.98847	0.87641	D	AEFDBI	0.910360	0.86818	D	0.930927006735151	0.93192	11.87881	0.893710830782997	0.95292	13.48612	0.999999999527102	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.42	5.42	0.78666	9.597000	0.97445	11.896000	0.99222	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.215	0.93760	896	0.25515	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2914.43	35	chr19	31279167	.	G	A	2914.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.03;DP=578;ExcessHet=0;FS=5.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=0.748;SOR=1.071	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1185	9	0	1	0
chr19	32354953	32354953	A	G	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon2:c.A2123G:p.Y708C,ZNF507:NM_001136156:exon3:c.A2123G:p.Y708C	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0228515914963	0.0003	0.000399361	0.0006	0	0.0004	0	0	0.0004	0.0012	0.0025	0.0005239	81	154602	rs148274835	0.0003	0.0003	0.0003	0.0004	0.0028	0.0003	0.0003	0.0018	0.0014	3.008e-05	0.0002	0.0029	2.529e-05	0	0.0028	0.0002	0.0007	0.0018	0.0002	0.0002	0.0001	0.0003	0.0012	0.0002	0.0001	0.0005	0.0004	0	0	0.0005	0.0026	0	0	0.0034	0.0001	0.0009	0.0012	0.008	0.58626	D	0.03	0.54159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.053600	0.997674	0.44089	D	0.725	0.18768	N	1.6	0.28604	T	-4.37	0.77061	D	0.436	0.51226	-1.0489	0.14705	T	0.118	0.41495	T	10	0.01825124	0.00395	T	0.022852	0.45774	T	0.327	0.64926	.	.	0.276254252017	0.27237	0.46156508412601016	0.46074	0.391633832925	0.40362	0.661580622196	0.61636	T	0.270718	0.64300	T	-0.359891	0.04136	T	-0.296999	0.45039	T	0.173527146085768	0.18817	T	0.852615	0.54939	D	0.45657945	0.64457	0.31779838	0.57752	0.45657945	0.64458	0.31779838	0.57752	-12.521	0.87296	D	.	.	0.213	0.45906	B	.;.;.	.;.;.	4.621103	0.73381	26.0	0.99804337238406182	0.88906	0.94500	0.61366	D	AEBCI	0.856164	0.77336	D	0.449697657612272	0.64186	4.667572	0.446656965763622	0.64503	4.706922	0.999999161387728	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.43	4.42	0.52775	7.152000	0.77009	8.159000	0.76731	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.9281:0.0:0.0719:0.0	11.263	0.48323	905	0.23532	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001014	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1425.43	33	chr19	32354953	.	A	G	1425.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.003;DP=448;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.51;SOR=0.576	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	9	0	1	0
chr19	32454966	32454966	A	T	exonic	DPY19L3	.	nonsynonymous SNV	DPY19L3:NM_001172774:exon10:c.A1015T:p.N339Y,DPY19L3:NM_207325:exon10:c.A1015T:p.N339Y	.	741	779	2	0	0	2	0.00128205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0105430629319	7.7e-05	.	0.0002	9.862e-05	0	0	0	0.0002	0.0011	0.0003	0.0001488	23	154602	rs370340923	0.0002	0.0002	0.0002	0.0002	0.0060	0.0002	0.0002	0.0044	0.0039	0.0002	3.256e-05	0.0013	0	0	0.0060	0.0001	0.0004	0.0006	0.0001	0.0001	8.994e-05	0.0001	0.0002	7.57e-05	6.276e-05	3.762e-05	2.575e-05	2.405e-05	0	6.533e-05	0.0014	0	0	0.0102	8.82e-05	0.0005	0.0002	0.038	0.42783	D	0.342	0.17910	T	0.096	0.25489	B	0.121	0.32300	B	0.031043	0.25222	N	0.479278	0.980927	0.25077	N	1.1	0.28011	L	0.51	0.55439	T	-1.63	0.39119	N	0.185	0.23125	-0.9673	0.37754	T	0.137	0.45432	T	10	0.0767799	0.12038	T	0.010543	0.27195	T	0.098	0.28162	.	.	0.439018943094	0.43523	0.5081814266587893	0.50740	0.33676110885	0.35672	0.376158237457	0.21711	T	0.041063	0.25735	T	-0.297062	0.08939	T	-0.355618	0.38561	T	0.0361607457760339	0.03009	T	0.874613	0.58533	D	0.08065795	0.18492	0.10251203	0.24570	0.08065795	0.18492	0.10251203	0.24570	-4.246	0.27412	T	.	.	0.074	0.05231	B	.;.;.	.;.;.	0.948975	0.13252	9.751	0.97689134615893713	0.35364	0.52437	0.29132	D	AEGBI	0.090476	0.18334	N	-0.258187366611987	0.30778	1.719352	-0.117094120805838	0.34699	1.999059	0.835461355058652	0.24770	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	6.08	5.04	0.67293	0.922000	0.28351	1.112000	0.24166	0.691000	0.84096	0.473000	0.26745	0.013000	0.20296	0.998000	0.85391	0.8568:0.1432:0.0:0.0	12.106	0.53115	886	0.28090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.025862	0.000000	0.003788	0.05	368.43	33	chr19	32454966	.	A	T	368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.172;DP=276;ExcessHet=0;FS=1.34;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.608;SOR=0.473	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,586	9	0	1	0
chr19	32468761	32468761	G	A	exonic	DPY19L3	.	nonsynonymous SNV	DPY19L3:NM_001172774:exon16:c.G1645A:p.E549K,DPY19L3:NM_207325:exon16:c.G1645A:p.E549K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.030554813726	.	.	1.649e-05	0	0	0.0001	0	1.5e-05	0	0	1.94e-05	3	154602	rs751146451	1.3e-05	1.3e-05	1.362e-05	1.238e-05	0.0002	8.31e-06	6.7e-06	8.207e-05	5.79e-05	0	0	0	0.0002	0	0	1.079e-05	0	0	6.575e-06	6.569e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.104	0.29959	T	0.128	0.35710	T	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.34	0.67151	M	0.51	0.55439	T	-2.2	0.49519	N	0.719	0.72120	-0.7258	0.59174	T	0.302	0.67307	T	10	0.7326218	0.74402	D	0.030555	0.52842	D	0.424	0.73226	0.543	0.65589	0.681492719615	0.67878	0.7669641861939706	0.76645	0.631884088958	0.57135	0.730714082718	0.71611	T	0.053632	0.29498	T	0.172558	0.71359	D	0.17922	0.81949	D	0.465784799326658	0.31377	T	0.974103	0.94055	D	0.40597588	0.61144	0.37846848	0.62924	0.40597588	0.61145	0.37846848	0.62923	-8.873	0.66875	D	.	.	0.326	0.57274	B	.;.;.	.;.;.	5.783656	0.93535	33	0.99922359057855836	0.98852	0.99072	0.90815	D	AEFGBI	0.932507	0.92296	D	0.741569157457809	0.82354	7.74206	0.764533751585273	0.87240	9.15391	0.999999999969854	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	9.353000	0.96486	11.842000	0.97836	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.825	0.96608	940	0.13648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	317.43	33	chr19	32468761	.	G	A	317.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.017;DP=320;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=0.062;SOR=0.721	GT:AD:DP:GQ:PL	0/0:25,0:25:75:0,75,683	9	0	1	0
chr19	32974193	32974193	C	T	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon2:c.C92T:p.S31F,FAAP24:NM_152266:exon4:c.C377T:p.S126F	.	435	1066	21	0	0	21	0.00975383	.	.	.	716358	FAAP24-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.149	.	0.0045	0.00319489	0.0050	0.0013	0.0059	0	0	0.0073	0.0055	0.0022	0.0050129	775	154602	rs36017455	0.0061	0.0061	0.0060	0.0061	0.0154	0.0059	0.0059	0.0129	0.0119	0.0018	0.0064	0.0230	2.519e-05	0.0003	0.0154	0.0064	0.0077	0.0021	0.0048	0.0048	0.0052	0.0045	0.0073	0.0045	0.0044	0.0062	0.0059	0.0016	0	0.0073	0.0207	0	0.0002	0.0102	0.0066	0.0090	0.0029	.	.	.	0.005	0.74150	D	0.895	0.49247	P	0.548	0.49136	P	0.000428	0.44522	D	0.236287	0.974761	0.39132	D	2.515	0.73286	M	2.39	0.15724	T	.	.	.	0.746	0.74553	-1.0132	0.25912	T	0.006	0.01907	T	9	0.0065547526	0.00149	T	.	.	.	.	.	.	.	0.358340041657	0.35441	0.7600141654368904	0.75949	0.774584001353	0.64956	.	.	.	0.11925	0.44064	T	-0.442531	0.01250	T	-0.404856	0.32820	T	0.0322807306470619	0.02352	T	0.855114	0.54241	D	0.5251441	0.68554	0.30245417	0.56277	0.5251441	0.68555	0.30245417	0.56276	-9.045	0.67987	D	.	.	0.688	0.72544	P	.;.;.;.	.;.;.;.	4.586012	0.72498	25.8	0.99745702293790872	0.83852	0.97280	0.73763	D	AEFDBI	0.808333	0.73213	D	0.35307389746861	0.58902	4.06541	0.293026039342718	0.55131	3.67652	0.999997386101816	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.645948	0.59608	0	.	.	4.53	4.53	0.55009	7.028000	0.76204	7.532000	0.59933	0.545000	0.25583	1.000000	0.71638	0.999000	0.35428	0.865000	0.41091	0.0:1.0:0.0:0.0	17.213	0.86818	338	0.86082	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013105	0.005102	0.016304	0.026316	0.000000	0.000000	0.015244	0.007576	0.05	871.43	81	chr19	32974193	.	C	T	871.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.04;DP=406;ExcessHet=0;FS=4.953;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.116;SOR=1.421	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr19	32976521	32976521	G	A	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon3:c.G202A:p.V68M,FAAP24:NM_152266:exon5:c.G487A:p.V163M	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0298446743324	0.0004	0.000199681	0.0006	9.61e-05	0.0002	0	0	0.0006	0.0011	0.0020	0.0005498	85	154602	rs141801484	0.0004	0.0004	0.0004	0.0005	0.0019	0.0004	0.0004	0.0017	0.0016	2.987e-05	6.708e-05	0.0006	0	0	0.0010	0.0003	0.0005	0.0019	0.0004	0.0004	0.0004	0.0004	0.0033	0.0004	0.0003	0.0021	0.0017	7.216e-05	0	0.0005	0.0009	0	0	0.0102	0.0005	0.0005	0.0033	.	.	.	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999985	0.54805	D	2.14	0.59869	M	2.47	0.14783	T	.	.	.	0.55	0.57604	0.099	0.84152	D	0.525	0.82297	D	9	0.039657116	0.02473	T	0.029845	0.52278	D	.	.	.	.	0.489174143269	0.48549	0.4716489516538365	0.47083	0.983466857233	0.73822	.	.	.	0.119873	0.44172	T	-0.179385	0.23827	T	-0.0605291	0.66295	T	0.174500122666359	0.18881	T	0.828817	0.50110	T	0.52517223	0.68555	0.3434324	0.60054	0.52517223	0.68556	0.3434324	0.60054	-12.337	0.86454	D	.	.	0.257	0.49206	B	.;.;.;.	.;.;.;.	5.042305	0.83928	28.2	0.99909670555530605	0.97949	0.74694	0.36546	D	ALL	0.791732	0.72024	D	0.810132349245945	0.86737	8.982076	0.767648368191244	0.87469	9.232843	1.0	0.98316	0.696267	0.57585	0	0.637152	0.57089	0	0.691665	0.62940	0	0.629945	0.49285	0	.	.	5.35	5.35	0.76297	5.870000	0.69370	8.639000	0.77885	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.076	0.93144	358	0.85037	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1017.43	35	chr19	32976521	.	G	A	1017.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=558;ExcessHet=0;FS=4.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=2.55;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,980	9	0	1	0
chr19	32976669	32976669	C	T	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon3:c.C350T:p.T117M,FAAP24:NM_152266:exon5:c.C635T:p.T212M	.	428	1082	10	2	0	14	0.00642792	.	.	.	1289153	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.328	0.0348122791162	0.0015	0.00139776	0.0027	0.0005	0.0016	0	0.0026	0.0034	0.0011	0.0032	0.0024903	385	154602	rs148106526	0.0026	0.0026	0.0026	0.0026	0.0038	0.0026	0.0025	0.0031	0.0029	0.0002	0.0013	0.0005	0	0.0042	0.0038	0.0028	0.0024	0.0034	0.0022	0.0022	0.0024	0.0019	0.0048	0.0020	0.0019	0.0039	0.0036	0.0006	0	0.0048	0.0006	0.0002	0.0034	0.0034	0.0025	0.0028	0.0037	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.954	0.69447	D	0.000392	0.44960	D	0.226611	0.919453	0.37174	D	1.6	0.40776	L	2.52	0.14160	T	.	.	.	0.442	0.80180	-0.2184	0.77193	T	0.302	0.67325	T	9	0.0058882535	0.00132	T	0.034812	0.55931	D	.	.	.	.	0.28297238246	0.27903	0.20282100742663625	0.20199	0.95380284473	0.72739	.	.	.	0.050693	0.28669	T	-0.451339	0.01109	T	-0.421238	0.30934	T	0.020310959559876	0.00731	T	0.69903	0.30897	T	0.47475508	0.65581	0.47809625	0.69766	0.47475508	0.65582	0.47809625	0.69766	-7.246	0.55811	T	.	.	0.108	0.20469	B	.;.;.;.	.;.;.;.	4.024142	0.59457	24.1	0.99869682912059199	0.94726	0.88265	0.48115	D	AEFDGBCI	0.450678	0.50497	N	0.354377324027661	0.58969	4.072858	0.265603429066642	0.53542	3.522629	0.999998589771638	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.599892	0.37169	0	.	.	5.21	4.17	0.48303	3.220000	0.50909	4.016000	0.41206	0.544000	0.25403	0.988000	0.36536	1.000000	0.68203	0.214000	0.22296	0.0:0.8566:0.1434:0.0	15.048	0.71506	361	0.84870	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007583	0.000000	0.006793	0.011696	0.000000	0.008621	0.003106	0.007576	0.1	1584.14	65	chr19	32976669	.	C	T	1584.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.876;DP=460;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.15;SOR=0.629	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	8	0	2	0
chr19	32999594	32999594	C	T	exonic	RHPN2	.	nonsynonymous SNV	RHPN2:NM_033103:exon10:c.G1217A:p.R406Q	.	393	1026	102	1	0	104	0.0482375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0142889467842	.	.	7.456e-05	0.0002	8.699e-05	0.0002	0	6.023e-05	0	0	3.84e-05	1	26028	rs201438314	6.167e-06	7.524e-06	4.091e-06	8.265e-06	0.0002	2.9e-06	2.1e-06	8.222e-05	5.8e-05	0	2.239e-05	0	0.0002	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.13131	T	0.262	0.22895	T	0.046	0.21875	B	0.011	0.15521	B	0.546131	0.05342	N	1.251570	1	0.08975	N	0.72	0.18721	N	1.92	0.23082	T	-1.58	0.38151	N	0.079	0.05414	-1.0477	0.15045	T	0.066	0.27364	T	10	0.048371255	0.04278	T	0.014289	0.34307	T	0.081	0.23632	.	.	0.27132560031	0.26736	0.06164481015293202	0.06104	0.382972438731	0.39630	0.201459959149	0.00501	T	0.059124	0.31030	T	-0.36165	0.04038	T	-0.757261	0.03211	T	0.0508323867332556	0.05645	T	0.756024	0.37907	T	0.041213904	0.06027	0.04124066	0.04644	0.041213904	0.06027	0.04124066	0.04643	-5.092	0.37823	T	.	.	0.066	0.02257	B	.	.	1.142576	0.15300	11.74	0.98445629126539858	0.41564	0.00752	0.03125	N	AEFDBI	0.050936	0.08950	N	-1.11366119687686	0.06399	0.2944523	-1.21024942297574	0.05744	0.2745707	0.999756840206791	0.42595	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.72	-6.97	0.01459	-0.603000	0.05770	-3.390000	0.02823	0.537000	0.25018	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1977:0.0875:0.0954:0.6194	3.396	0.06880	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010585	0.050505	0.000000	0.011765	0.000000	0.000000	0.018405	0.000000	0.05	57.43	84	chr19	32999594	.	C	T	57.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=1023;ExcessHet=0;FS=8.599;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=53.25;MQRankSum=-4.052;QD=0.65;ReadPosRankSum=-2.496;SOR=1.515	GT:AD:DP:GQ:PL	0/0:107,0:107:99:0,103,1800	9	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.2	1287.57	84	chr19	32999679	.	G	A	1287.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.493;DP=1779;ExcessHet=1.5895;FS=0.727;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=54.17;MQRankSum=-5.929;QD=1.54;ReadPosRankSum=2.84;SOR=0.708	GT:AD:DP:GQ:PL	0/1:184,44:228:99:423,0,4746	6	0	4	0
chr19	33215893	33215893	C	T	exonic	SLC7A10	.	nonsynonymous SNV	SLC7A10:NM_019849:exon2:c.G232A:p.V78I	.	419	1101	2	0	0	2	0.000907441	.	.	.	2333088	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0202656663744	7.7e-05	0.000199681	7.299e-05	0.0001	0	0.0003	0	6.595e-05	0	0	5.17e-05	8	154602	rs370643237	4.045e-05	4.036e-05	3.545e-05	4.55e-05	0.0002	3.185e-05	2.917e-05	3.462e-05	3.124e-05	0	4.499e-05	0	2.522e-05	1.893e-05	0.0002	4.501e-05	4.976e-05	1.17e-05	8.534e-05	8.53e-05	0.0001	6.713e-05	0.0004	4.953e-05	3.959e-05	6.842e-05	2.863e-05	4.811e-05	0	0.0002	0	0.0004	0	0	8.82e-05	0	0	0.363	0.11807	T	0.515	0.10643	T	0.008	0.14655	B	0.03	0.21741	B	0.067094	0.21765	N	0.493565	0.568163	0.32271	D	0.795	0.19620	N	-2.68	0.90391	D	-0.63	0.18459	N	0.223	0.25006	-0.6636	0.62117	T	0.440	0.77827	T	10	0.12036559	0.22796	T	0.020266	0.42829	T	0.171	0.43483	.	.	0.621853638575	0.61878	0.332912045256687	0.33204	0.332056083419	0.35265	0.390078693628	0.23680	T	0.285982	0.65877	T	-0.197338	0.21190	T	-0.336596	0.40729	T	0.0237407413877736	0.01113	T	0.852415	0.53747	D	0.059362926	0.12056	0.06493065	0.13085	0.059362926	0.12055	0.06493065	0.13084	-6.099	0.47100	T	.	.	0.071	0.03925	B	.	.	2.721479	0.35600	19.94	0.97893996669518679	0.36690	0.70374	0.34564	D	AEFDGBI	0.251389	0.37126	N	-0.564818403238559	0.20021	1.052387	-0.407857279743887	0.24766	1.358077	0.195680510041145	0.18055	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.79	1.5	0.22029	0.603000	0.23848	1.833000	0.29130	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.0:0.5084:0.0:0.4916	5.939	0.18419	550	0.72197	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	601.43	35	chr19	33215893	.	C	T	601.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.232;DP=397;ExcessHet=0;FS=0.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.52;ReadPosRankSum=1.28;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,972	9	0	1	0
chr19	33812913	33812913	A	G	exonic	KCTD15	.	nonsynonymous SNV	KCTD15:NM_001129994:exon7:c.A817G:p.T273A,KCTD15:NM_001129995:exon7:c.A817G:p.T273A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.011009075441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.147e-06	2.052e-06	2.824e-06	1.451e-06	3.167e-05	5.7e-07	1.6e-07	3.1e-07	1.2e-07	3.167e-05	0	0	0	0	0	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.195	0.28032	T	0.007	0.14184	B	0.002	0.06944	B	.	.	.	.	0.999976	0.81001	D	1.59	0.40313	L	0.96	0.42888	T	-0.65	0.18877	N	0.418	0.46274	-1.0770	0.07942	T	0.083	0.32585	T	9	0.16162735	0.30311	T	0.011009	0.28187	T	0.195	0.47612	0.103	0.01643	0.597924155889	0.59472	0.28581171971769487	0.28494	0.61528847301	0.56016	0.534117937088	0.43615	T	0.025462	0.19037	T	-0.0552289	0.43647	T	-0.317109	0.42889	T	0.609166324138641	0.36767	D	0.524548	0.17205	T	0.066633336	0.14355	0.07921968	0.17815	0.066633336	0.14355	0.07921968	0.17815	-3.007	0.10256	T	.	.	0.052	0.00243	B	.;.;.	.;.;.	1.982157	0.25182	16.67	0.99092719787411421	0.52247	0.97794	0.77181	D	AEFDBCI	0.702373	0.65877	D	-0.0952213137572732	0.37601	2.189985	0.0898613728953346	0.44038	2.693292	0.999983343034474	0.51787	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	5.72	5.72	0.89380	5.380000	0.65953	6.162000	0.54356	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	1.0:0.0:0.0:0.0	15.197	0.72782	823	0.40596	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1051.43	33	chr19	33812913	.	A	G	1051.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.111;DP=397;ExcessHet=0;FS=11.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-1.989;SOR=1.435	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1163	9	0	1	0
chr19	34482606	34482606	G	T	exonic	WTIP	.	nonsynonymous SNV	WTIP:NM_001080436:exon1:c.G632T:p.R211L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.581402753589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.28e-07	9.577e-06	0	1.964e-06	5.104e-05	0	0	.	.	0	0	0	0	0	0	0	0	5.104e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	0.211888	0.16345	U	0.489229	0.945777	0.27464	N	0.895	0.22405	L	-0.09	0.64086	T	.	.	.	0.118	0.10769	-0.8676	0.50709	T	0.176	0.51990	T	10	0.18737546	0.34245	T	0.581403	0.96250	D	.	.	.	.	0.51891315781	0.51535	0.469580404567103	0.46877	1.05456718301	0.76280	0.923379063606	0.98570	D	0.094549	0.39438	T	-0.0917987	0.37780	T	-0.369639	0.36932	T	0.720017433166504	0.41700	D	0.790821	0.43180	T	0.18089464	0.39233	0.13434947	0.32195	0.18089464	0.39233	0.13434947	0.32194	-6.901	0.53306	T	.	.	0.158	0.34906	B	.	.	4.146609	0.62163	24.4	0.97806768242502018	0.36103	0.64071	0.32289	D	AEFDBHCIJ	0.207018	0.33322	N	-0.4929581522126	0.22311	1.190441	-0.50408156662455	0.22041	1.19528	0.99999936920084	0.74766	0.652421	0.48094	0	0.563428	0.19063	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.17	2.1	0.26226	1.751000	0.37967	5.961000	0.51824	0.516000	0.23499	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.114:0.0:0.6818:0.2043	5.368	0.15425	905	0.23532	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	33.43	27	chr19	34482606	.	G	T	33.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.669;DP=196;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-0.693;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:18,0:18:54:.:.:0,54,495:.	9	0	1	0
chr19	34482617	34482617	G	T	exonic	WTIP	.	nonsynonymous SNV	WTIP:NM_001080436:exon1:c.G643T:p.A215S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.372909289735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.18789	T	.	.	.	.	.	.	0.582720	0.11128	U	0.765588	0.999361	0.21783	N	1.24	0.30952	L	0.02	0.62318	T	.	.	.	0.039	0.01274	-1.0309	0.20163	T	0.105	0.38489	T	10	0.08760473	0.15005	T	0.372909	0.92790	D	.	.	.	.	0.285316908763	0.28143	0.26319556358963825	0.26232	0.88397339587	0.69886	0.849152624607	0.89486	D	0.013872	0.11917	T	-0.181387	0.23530	T	-0.498327	0.22522	T	0.279888689517975	0.24167	T	0.546745	0.18722	T	0.09913007	0.23390	0.14552008	0.34510	0.09913007	0.23390	0.14552008	0.34509	-5.253	0.39476	T	.	.	0.096	0.15251	B	.	.	3.398596	0.47086	22.4	0.98439631819654994	0.41497	0.56428	0.30115	D	AEFDBHCIJ	0.162927	0.28915	N	-0.673831960745651	0.16769	0.8573175	-0.585302514790341	0.19876	1.068381	0.999998941336965	0.74766	0.72623	0.87236	0	0.563428	0.19063	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	3.7	1.09	0.19517	0.619000	0.24083	6.597000	0.56044	0.516000	0.23499	0.144000	0.23566	1.000000	0.68203	0.855000	0.40485	0.1092:0.2125:0.6783:0.0	8.890	0.34585	905	0.23532	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	30.43	30	chr19	34482617	.	G	T	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.73;DP=208;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.398;SOR=0.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:17,0:17:51:.:.:0,51,493:.	9	0	1	0
chr19	34958015	34958015	C	T	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1840A:p.A614T	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	0.0002	0.0197684	0.0113	0.0002	0.0010	0.0100	0	0.0003	0.0085	0.0785	0.0095212	1472	154602	rs200278064	0.0047	0.0047	0.0029	0.0065	0.0703	0.0046	0.0046	0.0688	0.0682	0.0003	0.0005	0.0013	0.0070	0.0003	0.0035	0.0001	0.0060	0.0703	0.0028	0.0028	0.0015	0.0041	0.0728	0.0026	0.0025	0.0665	0.0640	0.0002	0	0.0001	0.0026	0.0071	0	0	0.0001	0.0019	0.0728	0.084	0.32929	T	0.372	0.19362	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.34	0.06063	T	-0.2	0.10136	N	0.14	0.13911	-0.9359	0.43257	T	0.008	0.02926	T	9	0.0024052262	0.00036	T	.	.	.	0.033	0.08068	.	.	.	.	0.13585855362880117	0.13509	0.247095792662	0.27244	0.224681705236	0.01598	T	0.002028	0.10204	T	-0.646089	0.00076	T	-0.648189	0.09081	T	0.0184147399786136	0.00558	T	0.390461	0.09684	T	0.036278095	0.04431	0.05228279	0.08582	0.036278095	0.04430	0.05228279	0.08581	-2.71	0.07387	T	.	.	0.069	0.03093	B	.;.	.;.	1.257329	0.16549	12.61	0.99372635559404843	0.61498	0.00058	0.00432	N	AEFDBHCI	0.031105	0.03259	N	-1.10928015456417	0.06477	0.2982812	-1.15851108829091	0.06616	0.3190628	0.317559909742204	0.19351	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.64	0.355	0.15305	0.283000	0.18605	-2.383000	0.03823	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2321:0.3876:0.2278:0.1524	1.006	0.01394	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.000000	0.002717	0.011696	0.000000	0.000000	0.000000	0.026515	0.05	1295.43	34	chr19	34958015	.	C	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.676;DP=647;ExcessHet=0;FS=2.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-0.789;SOR=0.601	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	9	0	1	0
chr19	34958041	34958041	C	G	exonic	ZNF792	.	nonsynonymous SNV	ZNF792:NM_175872:exon4:c.G1814C:p.S605T	.	426	1077	19	0	0	19	0.00874367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	7.7e-05	0.0197684	0.0112	0.0002	0.0009	0.0099	0	4.833e-05	0.0085	0.0772	0.0093919	1452	154602	rs201800628	0.0046	0.0046	0.0028	0.0064	0.0702	0.0045	0.0045	0.0687	0.0681	0.0003	0.0005	0	0.0070	0	0.0028	3.239e-05	0.0057	0.0702	0.0027	0.0027	0.0014	0.0040	0.0732	0.0025	0.0024	0.0669	0.0644	0.0002	0	0.0001	0	0.0071	0	0	5.879e-05	0.0019	0.0732	0.855	0.02705	T	0.479	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.37	0.05847	T	-0.01	0.07155	N	0.142	0.14196	-0.9333	0.43650	T	0.006	0.02055	T	9	0.0021786094	0.00031	T	.	.	.	0.012	0.01476	.	.	.	.	0.0653250227160099	0.06471	0.16430499449	0.18538	0.245909079909	0.03349	T	4.45E-4	0.05823	T	-0.734228	0.00022	T	-0.774795	0.02614	T	0.000397459311521812	0.00003	T	0.160684	0.01448	T	0.023038864	0.01011	0.03799009	0.03572	0.023038864	0.01010	0.03799009	0.03571	-3.949	0.23038	T	.	.	0.068	0.03625	B	.;.	.;.	0.131981	0.05276	1.772	0.60119208613842268	0.06386	0.00090	0.00598	N	AEFDBHCI	0.038494	0.05455	N	-1.80736661476347	0.00527	0.02270495	-1.85435263990769	0.00600	0.02666944	0.654660405635976	0.22203	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	2.27	-3.6	0.04277	-0.933000	0.04067	-5.939000	0.01546	-0.995000	0.01833	0.001000	0.13787	0.000000	0.08366	0.231000	0.22761	0.1689:0.4061:0.1664:0.2586	1.076	0.01530	307	0.87649	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.002717	0.008772	0.000000	0.000000	0.000000	0.026515	0.05	1342.43	34	chr19	34958041	.	C	G	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.259;DP=641;ExcessHet=0;FS=0.782;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-2.625;SOR=0.558	GT:AD:DP:GQ:PL	0/0:69,0:69:99:0,120,1800	9	0	1	0
chr19	35033703	35033703	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_001037:exon3:c.G412A:p.V138I,SCN1B:NM_001321605:exon3:c.G313A:p.V105I,SCN1B:NM_199037:exon3:c.G412A:p.V138I	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	0	1497	25	0	0	25	0.00828089	.	.	.	178737	Long_QT_syndrome|Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|SCN1B-related_disorder|Cardiovascular_phenotype|not_provided|not_specified	MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233,Orphanet:36387|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|.|MedGen:CN230736|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.262	.	0.0002	0.0209665	0.0117	0.0011	0.0008	0.0057	0	0.0001	0.0155	0.0804	0.0103621	1602	154602	rs72558029	0.0052	0.0052	0.0031	0.0072	0.0784	0.0051	0.0050	0.0768	0.0762	0.0007	0.0003	0	0.0030	1.872e-05	0.0035	8.453e-05	0.0086	0.0784	0.0034	0.0035	0.0020	0.0049	0.0882	0.0032	0.0031	0.0813	0.0785	0.0009	0	0.0002	0	0.0085	0	0	5.88e-05	0.0052	0.0882	0.398	0.26085	T	0.643	0.24477	T	0.279	0.52105	B	0.013	0.45631	B	0.058319	0.22412	N	0.436536	0.989249	0.40915	D	0.445	0.12748	N	-4.53	0.97713	D	-0.53	0.16393	N	0.041	0.01421	0.604	0.91953	D	0.795	0.93057	D	10	0.0017569363	0.00023	T	.	.	.	0.262	0.57482	.	.	.	.	0.6908096357470496	0.69020	0.712814376389	0.61783	0.553019821644	0.46284	T	0.075724	0.35245	T	-0.332975	0.05890	T	-0.191892	0.55411	T	0.00667188954088941	0.00075	T	0.755224	0.39577	T	0.068868704	0.15040	0.051318746	0.08236	0.089256935	0.20848	0.051318746	0.08236	-3.791	0.29312	T	0.11411305614658733	0.10062	0.075	0.26638	B	.;.;.;.;.	.;.;.;.;.	2.971009	0.39600	21.0	0.99838461454441818	0.91886	0.75004	0.36706	D	AEFBI	0.187454	0.31475	N	-0.0515020911810638	0.39536	2.333031	0.0647403313162013	0.42791	2.594436	0.958561964384985	0.28371	0.706548	0.73137	0	0.610034	0.51514	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.22	4.22	0.49153	2.945000	0.48735	5.616000	0.49070	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	12.276	0.54054	895	0.25842	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010574	0.000000	0.001359	0.011696	0.000000	0.000000	0.000000	0.045455	0.05	3318.43	40	chr19	35033703	.	G	A	3318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.56;DP=619;ExcessHet=0;FS=0.423;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.113;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1111	9	0	1	0
chr19	35131998	35131998	A	C	exonic	LGI4	.	nonsynonymous SNV	LGI4:NM_139284:exon4:c.T359G:p.L120R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.352264652903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.951	0.73562	D	0.004895	0.33292	N	0.130653	0.880492	0.81001	D	2.51	0.73131	M	0.07	0.61677	T	-2.75	0.60507	D	0.897	0.89689	0.099	0.84161	D	0.422	0.76684	T	10	0.9784908	0.97728	D	0.352265	0.92299	D	0.581	0.83137	0.893	0.97460	0.909415158807	0.90850	0.9013088624621514	0.90102	1.15439653339	0.79321	0.701942801476	0.67424	T	0.671541	0.90257	D	0.204576	0.74321	D	0.0560824	0.73985	D	0.992367327213287	0.82825	D	0.948505	0.80194	D	0.76217467	0.81582	0.63858205	0.78892	0.76217467	0.81583	0.63858205	0.78893	-17.897	0.99479	D	0.3018059014984798	0.39921	0.960	0.89791	P	.;.;.	.;.;.	5.258995	0.88304	29.5	0.99757995125210031	0.84851	0.99558	0.97425	D	AEFBI	0.883589	0.81262	D	0.71785536023478	0.80802	7.37591	0.611416608750583	0.75766	6.369279	0.999999909433651	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.19	4.19	0.48645	8.932000	0.92420	11.001000	0.84769	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.260	0.48310	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3297.14	41	chr19	35131998	.	A	C	3297.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.087;DP=670;ExcessHet=0.2348;FS=2.346;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.885;SOR=0.781	GT:AD:DP:GQ:PL	0/1:80,67:147:99:1445,0,1979	8	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2788.18	80	chr19	35511491	.	C	*	2788.18	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.19;DP=565;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=1.51;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:39,0:56:99:0|1:35511491_C_T:481,599,2056:35511491	8	0	2	0
chr19	35615272	35615272	G	A	exonic	HAUS5	.	nonsynonymous SNV	HAUS5:NM_015302:exon6:c.G371A:p.R124H	.	.	.	.	.	.	.	.	.	.	.	3682192	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00551338936702	.	.	5.214e-05	0	0	0.0002	0	6.27e-05	0	0	3.88e-05	6	154602	rs766423063	2.258e-05	2.257e-05	2.859e-05	1.65e-05	7.557e-05	1.61e-05	1.417e-05	2.004e-05	1.15e-05	2.987e-05	0	0	7.557e-05	3.753e-05	0	2.068e-05	4.968e-05	1.16e-05	3.285e-05	3.283e-05	3.854e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0.0002	0.617	0.05357	T	0.121	0.35840	T	0.013	0.16609	B	0.004	0.10090	B	0.136159	0.18456	N	0.593826	1	0.08975	N	1.6	0.40776	L	1.47	0.31987	T	0.48	0.03041	N	0.262	0.29659	-1.0327	0.19586	T	0.055	0.23072	T	10	0.03557688	0.01812	T	0.005513	0.14197	T	0.025	0.05312	0.341	0.33302	0.221734844693	0.21761	0.4733317307521494	0.47252	0.264401177313	0.28988	0.27648037672	0.07007	T	0.00468	0.04092	T	-0.416049	0.01813	T	-0.6097	0.12010	T	0.0655163031390108	0.08007	T	0.761624	0.38671	T	0.019150298	0.00441	0.024246376	0.00441	0.019150298	0.00441	0.024246376	0.00441	-4.219	0.27026	T	.	.	0.075	0.05711	B	.	.	2.176805	0.27743	17.57	0.96535929960015787	0.30168	0.30683	0.24145	N	AEFBI	0.090739	0.18385	N	-0.545435280842682	0.20627	1.088763	-0.478862891432013	0.22737	1.236436	0.00309560428675037	0.09922	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.84	1.31	0.20837	1.178000	0.31590	0.188000	0.15711	0.671000	0.69459	0.783000	0.29509	0.000000	0.08366	0.953000	0.50222	0.2705:0.0:0.7295:0.0	8.811	0.34124	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1347.43	41	chr19	35615272	.	G	A	1347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=495;ExcessHet=0;FS=4.221;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.022;SOR=1.054	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr19	35720516	35720516	T	C	exonic	KMT2B	.	nonsynonymous SNV	KMT2B:NM_014727:exon3:c.T1169C:p.M390T	Dystonia 28, childhood-onset, Autosomal dominant	421	1076	25	0	0	25	0.0114837	.	.	.	1208549	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.000	.	0.0010	0.00479233	0.0087	0.0005	0	0	0.0015	0.0025	0.0092	0.0203	0.0017658	273	154602	rs191195577	0.0034	0.0033	0.0028	0.0041	0.0210	0.0033	0.0033	0.0202	0.0198	0.0005	0.0018	0.0034	2.798e-05	0.0004	0.0032	0.0025	0.0031	0.0210	0.0018	0.0018	0.0018	0.0019	0.0142	0.0017	0.0016	0.0115	0.0105	0.0005	0	0.0014	0.0012	0	0.0005	0.0034	0.0022	0.0038	0.0142	0.195	0.20759	T	0.463	0.12491	T	0.0	0.02946	B	0.0	0.01387	B	0.698985	0.06191	N	1.215830	1	0.08975	N	0.55	0.14455	N	2.25	0.17761	T	0.06	0.06253	N	0.043	0.01577	-0.9735	0.36453	T	0.012	0.04795	T	10	0.002669692	0.00041	T	.	.	.	0.000	0.00003	.	.	0.0675242888579	0.06100	0.1289655174123301	0.12821	.	.	0.339985907078	0.16436	T	0.028464	0.20614	T	-0.739682	0.00021	T	-0.819022	0.01472	T	0.00103793005777794	0.00010	T	0.265573	0.04334	T	0.03789585	0.04945	0.0910314	0.21379	0.03789585	0.04944	0.0910314	0.21379	-1.818	0.02563	T	0.11670112200966196	0.10578	0.143	0.31532	B	.	.	-1.126052	0.00610	0.016	0.42476038207020123	0.03134	0.03203	0.08199	N	AEFDBCI	0.025352	0.01723	N	-1.82998506622539	0.00476	0.02048146	-1.86884891316905	0.00563	0.02498569	0.999990691745033	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.14	-2.77	0.05529	-1.914000	0.01670	-1.222000	0.05984	-0.889000	0.02397	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.2008:0.3094:0.0:0.4898	3.905	0.08682	733	0.53988	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.012873	0.000000	0.015837	0.006897	0.000000	0.013158	0.014706	0.021053	0.05	1859.43	42	chr19	35720516	.	T	C	1859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.374;DP=509;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=0.293;SOR=0.542	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1234	9	0	1	0
chr19	35765019	35765037	GCCTTCTCCCTGCAGCAAA	-	exonic	PROSER3	.	frameshift deletion	PROSER3:NM_001039887:exon7:c.627_630del:p.S209Rfs*103,PROSER3:NM_001367856:exon7:c.627_630del:p.S209Rfs*103	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.799e-05	0	8.639e-05	0	0	4.497e-05	0	0.0002	3.84e-05	1	26028	rs750968211	3.559e-05	3.557e-05	2.724e-05	4.403e-05	0.0003	2.764e-05	2.503e-05	9.794e-05	7.84e-05	0	8.944e-05	0	0	0	0.0003	2.069e-05	0.0001	0.0002	1.313e-05	1.312e-05	0	2.685e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1815.39	109	chr19	35765018	.	TGCCTTCTCCCTGCAGCAAA	T	1815.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.586;DP=440;ExcessHet=0;FS=3.57;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.65;ReadPosRankSum=2.43;SOR=1.046	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1575	9	0	1	0
chr19	35806769	35806769	G	A	exonic	PRODH2	.	nonsynonymous SNV	PRODH2:NM_001378293:exon6:c.C740T:p.A247V,PRODH2:NM_021232:exon6:c.C740T:p.A247V	.	411	1086	25	0	0	25	0.0113792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.433	0.0848196410209	0.0018	0.00199681	0.0018	0.0003	0.0014	0.0003	0	0.0023	0	0.0028	0.0014942	231	154602	rs148996461	0.0013	0.0013	0.0012	0.0013	0.0182	0.0012	0.0012	0.0153	0.0143	0.0003	0.0016	0.0149	0.0001	9.379e-05	0.0182	0.0008	0.0023	0.0028	0.0015	0.0015	0.0016	0.0015	0.0048	0.0014	0.0013	0.0040	0.0036	0.0003	0	0.0048	0.0150	0	0	0.0170	0.0010	0.0047	0.0035	0.001	0.78490	D	0.002	0.79402	D	0.998	0.73220	D	0.886	0.62898	P	.	.	.	.	0.999999	0.58761	D	.	.	.	1.28	0.35960	T	-3.41	0.67129	D	0.527	0.55626	-0.5622	0.66320	T	0.185	0.53361	T	9	0.024158657	0.00655	T	0.08482	0.74405	D	0.433	0.73879	.	.	0.495038369364	0.49138	0.917729499040338	0.91747	0.592755175315	0.54650	0.541399598122	0.44643	T	0.629359	0.88493	D	-0.228277	0.16878	T	-0.104672	0.63032	T	0.0630171359686066	0.07634	T	0.80292	0.44963	T	0.27929047	0.50980	0.3533046	0.60894	0.27929047	0.50979	0.3533046	0.60894	-7.737	0.59264	D	.	.	0.150	0.33179	B	.	.	4.528629	0.71068	25.6	0.99937806449776112	0.99698	0.96758	0.70782	D	AEFDBI	0.928981	0.91404	D	0.694588966654963	0.79276	7.044066	0.587258987438839	0.74024	6.06752	0.999999205579871	0.74766	0.55562	0.30534	0	0.59043	0.45803	0	0.68496	0.61776	0	0.613276	0.41899	0	.	.	4.94	4.94	0.64645	6.769000	0.74780	9.703000	0.81309	-0.167000	0.11441	1.000000	0.71638	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	15.710	0.77376	747	0.52260	Proline dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009082	0.010101	0.005435	0.035088	0.000000	0.008621	0.000000	0.003788	0.05	453.43	36	chr19	35806769	.	G	A	453.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.723;DP=359;ExcessHet=0;FS=1.463;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=0.091;SOR=0.368	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1575	9	0	1	0
chr19	35857151	35857153	TCC	-	exonic	KIRREL2	.	nonframeshift deletion	KIRREL2:NM_001329530:exon1:c.32_34del:p.L13del,KIRREL2:NM_001363667:exon1:c.32_34del:p.L13del,KIRREL2:NM_032123:exon1:c.32_34del:p.L13del,KIRREL2:NM_199179:exon1:c.32_34del:p.L13del,KIRREL2:NM_199180:exon1:c.32_34del:p.L13del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0001	0	0.0003	0	0	0.0001	0.0022	0.0002	0.00011	17	154602	rs765791761	0.0002	0.0002	0.0002	0.0002	0.0056	0.0001	0.0001	0.0040	0.0035	0.0001	0.0002	0	0	0	0.0056	0.0001	0.0004	0.0002	9.936e-05	9.875e-05	0.0001	5.431e-05	0.0002	6.055e-05	4.918e-05	6.817e-05	5.097e-05	2.438e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004536	0.005051	0.009537	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2393.39	37	chr19	35857150	.	GTCC	G	2393.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.015;DP=440;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=-1.777;SOR=0.867	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1028	9	0	1	0
chr19	35866506	35866506	G	A	exonic	KIRREL2	.	stopgain	KIRREL2:NM_199179:exon15:c.G1722A:p.W574X,KIRREL2:NM_032123:exon16:c.G1872A:p.W624X	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	7.459e-05	9.779e-05	0	0	0	7.54e-05	0	0.0002	5.82e-05	9	154602	rs200403065	2.532e-05	2.531e-05	2.042e-05	3.026e-05	0.0002	1.868e-05	1.631e-05	3.765e-05	2.662e-05	0	0	0	0	0	0.0002	2.069e-05	9.936e-05	8.116e-05	1.973e-05	1.97e-05	0	4.039e-05	2.94e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999629	0.20843	N	.	.	.	.	.	.	.	.	.	0.1	0.08227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.546939	0.00304	T	-0.819817	0.01456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	0.749083	0.11188	7.823	0.8745265434086309	0.17238	0.13095	0.17660	N	AEFBI	0.074235	0.14873	N	-0.463501199331234	0.23284	1.249293	-0.607897981590258	0.19290	1.034286	0.0011454087177538	0.08272	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.478617	0.07155	0	.	.	4.31	2.08	0.26079	0.551000	0.23068	1.876000	0.29420	0.676000	0.76740	0.048000	0.21332	0.884000	0.27742	0.047000	0.14932	0.1063:0.192:0.7017:0.0	5.990	0.18684	856	0.34373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1140.43	75	chr19	35866506	.	G	A	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.765;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1074	9	0	1	0
chr19	35940216	35940216	C	T	exonic	LRFN3	.	nonsynonymous SNV	LRFN3:NM_024509:exon2:c.C791T:p.A264V	.	427	1039	54	2	0	58	0.0271536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0007	0.00239617	0.0025	0.0001	0.0007	0	0	0.0012	0.0075	0.0117	0.0020375	315	154602	rs150434674	0.0016	0.0016	0.0013	0.0019	0.0184	0.0016	0.0015	0.0155	0.0145	0.0002	0.0009	0.0025	0.0001	2.062e-05	0.0184	0.0009	0.0019	0.0114	0.0010	0.0010	0.0008	0.0012	0.0087	0.0009	0.0008	0.0066	0.0059	0.0003	0	0.0006	0.0020	0	9.413e-05	0.0306	0.0010	0.0028	0.0087	0.14	0.25664	T	0.232	0.24987	T	0.089	0.25085	B	0.018	0.18489	B	0.005369	0.32858	N	0.000000	0.90302	0.36218	D	-0.805	0.01590	N	0.74	0.50459	T	-0.73	0.20576	N	0.414	0.45426	-1.0263	0.21658	T	0.074	0.29928	T	10	0.009973824	0.00223	T	.	.	.	0.027	0.05988	.	.	0.278043722374	0.27408	0.3785036988860858	0.37765	0.772160025859	0.64823	0.664005935192	0.61982	T	0.010888	0.09781	T	-0.522562	0.00425	T	-0.513012	0.21006	T	0.0113585220233361	0.00169	T	0.838916	0.51225	T	0.10931355	0.25844	0.10662158	0.25653	0.10931355	0.25844	0.10662158	0.25652	-7.651	0.58666	D	.	.	0.270	0.50370	B	.;.	.;.	2.410331	0.30976	18.60	0.9962837130970269	0.75898	0.97765	0.76970	D	AEFDBI	0.512208	0.54052	D	-0.31305055587487	0.28652	1.582126	-0.128854334573934	0.34232	1.966829	0.999409230194575	0.39524	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.72	4.72	0.59248	3.092000	0.49904	5.921000	0.51166	0.549000	0.26987	0.988000	0.36536	1.000000	0.68203	0.640000	0.32422	0.0:1.0:0.0:0.0	15.170	0.72544	792	0.45996	Cysteine-rich flanking region, C-terminal;Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013105	0.000000	0.005435	0.046784	0.000000	0.017544	0.018405	0.000000	0.05	1699.43	36	chr19	35940216	.	C	T	1699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=1.09;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	9	0	1	0
chr19	36017436	36017436	G	T	exonic	CLIP3	.	nonsynonymous SNV	CLIP3:NM_001199570:exon11:c.C1466A:p.T489N,CLIP3:NM_015526:exon12:c.C1466A:p.T489N	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0223782995277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.269	0.22426	T	0.0	0.02946	B	0.001	0.04355	B	0.007807	0.31183	N	0.291024	0.784272	0.34306	D	0.55	0.14455	N	-0.9	0.74896	T	-1.46	0.35792	N	0.549	0.57518	-0.9163	0.46050	T	0.156	0.48790	T	10	0.12263501	0.23268	T	0.022378	0.45263	T	0.109	0.30843	0.184	0.09259	0.430026717358	0.42623	0.28562367624209845	0.28475	0.549599089488	0.51857	0.552181601524	0.46166	T	0.050131	0.28506	T	-0.151761	0.28037	T	-0.45577	0.27061	T	0.117335453629494	0.14166	T	0.524548	0.17205	T	0.052801367	0.09900	0.06020558	0.11427	0.052801367	0.09900	0.06020558	0.11426	-4.972	0.36534	T	.	.	0.084	0.09868	B	.;.	.;.	2.244746	0.28667	17.87	0.96951388979265629	0.31739	0.68765	0.33926	D	AEFBI	0.132267	0.25151	N	-0.609143200544095	0.18669	0.9710826	-0.426727354603106	0.24216	1.324867	1.29712705254719E-4	0.05386	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.23	1.57	0.22490	1.824000	0.38710	7.186000	0.57761	-0.132000	0.13132	0.954000	0.33273	1.000000	0.68203	0.838000	0.39538	0.0:0.1442:0.4223:0.4334	8.108	0.30059	706	0.57215	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1584.43	42	chr19	36017436	.	G	T	1584.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.998;DP=457;ExcessHet=0;FS=3.201;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=1.23;SOR=0.458	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr19	36103640	36103640	C	T	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon30:c.C3812T:p.A1271V,WDR62:NM_173636:exon30:c.C3797T:p.A1266V	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	1517	4	1	0	6	0.00197368	.	.	.	193774	not_specified|Inborn_genetic_diseases|not_provided|Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.025	0.029453733648	0.0045	0.00139776	0.0030	0.0006	0.0003	0	0.0018	0.0049	0.0033	0.0006	0.0032535	503	154602	rs111294536	0.0045	0.0045	0.0046	0.0044	0.0054	0.0044	0.0044	0.0053	0.0053	0.0007	0.0006	0.0034	0.0001	0.0018	0.0012	0.0054	0.0036	0.0006	0.0029	0.0029	0.0033	0.0026	0.0055	0.0027	0.0026	0.0051	0.0049	0.0008	0.0022	0.0003	0.0023	0	0.0015	0	0.0055	0.0019	0.0010	0.75	0.03587	T	0.248	0.23845	T	0.308	0.32740	B	0.057	0.26280	B	0.656336	0.05953	N	1.203910	1	0.08975	N	0	0.06538	N	0.87	0.49358	T	-0.27	0.11366	N	0.049	0.02088	-1.0480	0.14960	T	0.044	0.18783	T	10	0.0037599802	0.00070	T	0.029454	0.51963	D	0.025	0.05312	.	.	0.409398589964	0.40557	0.1223632428175173	0.12163	0.224555843083	0.24988	0.239935591817	0.02784	T	0.002905	0.02299	T	-0.660273	0.00063	T	-0.714532	0.05064	T	0.00231105682310841	0.00024	T	0.60344	0.22635	T	0.034834187	0.03986	0.03335124	0.02216	0.03587681	0.04306	0.030085668	0.01420	-3.734	0.19821	T	0.0822271729829223	0.04324	0.080	0.08417	B	.;.	.;.	0.566278	0.09345	6.129	0.21531012670184754	0.00824	0.05036	0.10821	N	AEFBCI	0.039757	0.05818	N	-1.03347441876775	0.07916	0.3693647	-1.1086378245104	0.07535	0.3668569	0.995392839461892	0.34103	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.93	-2.72	0.05616	-0.401000	0.07293	.	.	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1416:0.2677:0.4161:0.1746	2.644	0.04677	415	0.81806	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	2152.43	215	chr19	36103640	.	C	T	2152.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=1122;ExcessHet=0;FS=6.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-0.191;SOR=0.723	GT:AD:DP:GQ:PL	0/0:113,0:113:99:0,120,1800	9	0	1	0
chr19	36819281	36819282	GA	-	exonic	ZNF790	.	frameshift deletion	ZNF790:NM_001242800:exon5:c.1062_1063del:p.Q355Afs*8,ZNF790:NM_001242801:exon5:c.1062_1063del:p.Q355Afs*8,ZNF790:NM_001242802:exon5:c.1062_1063del:p.Q355Afs*8,ZNF790:NM_206894:exon5:c.1062_1063del:p.Q355Afs*8	.	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.000599042	0.0008	0	0.0003	0	0	0.0012	0.0011	0.0006	0.0001537	4	26028	rs556524944	0.0006	0.0006	0.0006	0.0007	0.0028	0.0006	0.0006	0.0017	0.0014	2.997e-05	0.0003	0.0125	0	0.0001	0.0028	0.0004	0.0012	0.0004	0.0007	0.0007	0.0007	0.0007	0.0008	0.0006	0.0006	0.0005	0.0004	0	0	0.0003	0.0147	0	0	0.0034	0.0006	0.0024	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.007576	0.05	2185.39	34	chr19	36819280	.	TGA	T	2185.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=-1.193;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	9	0	1	0
chr19	36891688	36891688	-	T	exonic	ZNF829	.	frameshift insertion	ZNF829:NM_001037232:exon6:c.1102dupA:p.I368Nfs*10,ZNF829:NM_001171979:exon6:c.1345dupA:p.I449Nfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467098547	3.421e-06	3.42e-06	2.723e-06	4.126e-06	2.24e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.24e-05	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1168.39	34	chr19	36891688	.	A	AT	1168.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.991;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.98;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1013	9	0	1	0
chr19	36937237	36937237	G	A	exonic	ZNF568	.	nonsynonymous SNV	ZNF568:NM_001204837:exon4:c.G161A:p.C54Y,ZNF568:NM_001204836:exon5:c.G161A:p.C54Y,ZNF568:NM_001204839:exon5:c.G161A:p.C54Y,ZNF568:NM_001204835:exon6:c.G353A:p.C118Y,ZNF568:NM_001204838:exon6:c.G353A:p.C118Y,ZNF568:NM_198539:exon6:c.G353A:p.C118Y	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00431679964732	.	.	8.347e-05	0	0	0	0	1.507e-05	0	0.0006	6.47e-05	10	154602	rs752347391	3.08e-05	3.078e-05	1.634e-05	4.54e-05	0.0005	2.348e-05	2.096e-05	0.0004	0.0003	0	0	0	0	0	0	8.996e-07	3.314e-05	0.0005	1.971e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.094	0.31383	T	0.416	0.79402	T	0.073	0.24078	B	0.018	0.18489	B	0.832781	0.09093	N	0.896444	1	0.08975	N	0.655	0.16177	N	5.57	0.08194	T	-2.67	0.57110	D	0.177	0.21580	-0.9154	0.46168	T	0.015	0.05897	T	10	0.034677297	0.01684	T	0.004317	0.10498	T	0.107	0.30369	0.35	0.34760	0.235664433957	0.23186	0.05907260125173746	0.05848	0.336704254348	0.35663	0.445661395788	0.31352	T	0.024527	0.18515	T	-0.565543	0.00235	T	-0.713881	0.05098	T	0.0324947279667343	0.02387	T	0.385361	0.17838	T	0.043590777	0.06821	0.11758004	0.28385	0.043590777	0.06821	0.11758004	0.28384	-3.996	0.35407	T	.	.	0.117	0.26388	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.072873	0.14556	11.12	0.47056146817446903	0.03818	0.02310	0.06631	N	AEFBI	0.040397	0.06003	N	-0.92234834343784	0.10321	0.4926109	-0.934514015222264	0.11283	0.5738673	2.14745711921286E-5	0.03498	0.638212	0.43195	0	0.670034	0.63936	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.2	-2.72	0.05616	-1.273000	0.02931	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2884:0.3186:0.2688:0.1243	1.444	0.02218	667	0.61242	Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated box;.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	253.43	35	chr19	36937237	.	G	A	253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.012;DP=322;ExcessHet=0;FS=13.457;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.213;SOR=0.018	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	9	0	1	0
chr19	37363386	37363386	G	A	exonic	ZNF875	.	nonsynonymous SNV	ZNF875:NM_001329773:exon4:c.G1411A:p.G471R,ZNF875:NM_001329776:exon4:c.G1408A:p.G470R,ZNF875:NM_001329761:exon5:c.G1537A:p.G513R,ZNF875:NM_001329762:exon5:c.G1537A:p.G513R,ZNF875:NM_001329764:exon5:c.G1534A:p.G512R,ZNF875:NM_001329768:exon5:c.G1495A:p.G499R,ZNF875:NM_001329769:exon5:c.G1492A:p.G498R,ZNF875:NM_001329779:exon5:c.G1249A:p.G417R,ZNF875:NM_001353803:exon5:c.G1534A:p.G512R,ZNF875:NM_001329772:exon6:c.G1411A:p.G471R,ZNF875:NM_001329775:exon6:c.G1408A:p.G470R,ZNF875:NM_001329777:exon6:c.G1408A:p.G470R,ZNF875:NM_001329778:exon6:c.G1408A:p.G470R,ZNF875:NM_181786:exon6:c.G1591A:p.G531R,ZNF875:NM_001329766:exon7:c.G1519A:p.G507R,ZNF875:NM_001329771:exon7:c.G1411A:p.G471R,ZNF875:NM_001329774:exon7:c.G1408A:p.G470R,ZNF875:NM_001329763:exon8:c.G1534A:p.G512R,ZNF875:NM_001329765:exon8:c.G1519A:p.G507R,ZNF875:NM_001329767:exon8:c.G1516A:p.G506R,ZNF875:NM_001329770:exon8:c.G1477A:p.G493R	.	418	1096	7	1	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0032	0.0061901	0.0056	0.0004	0.0005	0.0018	0.0012	0.0034	0.0055	0.0245	0.0051487	796	154602	rs150628887	0.0044	0.0044	0.0037	0.0051	0.0240	0.0043	0.0043	0.0232	0.0228	0.0003	0.0007	0.0028	0.0013	0.0012	0.0016	0.0035	0.0039	0.0240	0.0025	0.0025	0.0023	0.0027	0.0239	0.0023	0.0022	0.0203	0.0190	0.0004	0	0.0008	0.0035	0.0017	0.0008	0	0.0030	0.0019	0.0239	0.034	0.78490	D	0.02	0.74150	D	1.0	0.90584	D	0.974	0.73157	D	.	.	.	.	1	0.81001	D	2.525	0.73725	M	2.01	0.22678	T	-6.41	0.91226	D	0.206	0.30914	-1.0571	0.12491	T	0.104	0.38144	T	9	0.005761355	0.00128	T	.	.	.	0.186	0.46104	0.694	0.83126	0.110078149338	0.10416	0.06289950287391849	0.06228	0.115367463393	0.13009	0.477684020996	0.35738	T	0.154281	0.51483	T	-0.400692	0.02292	T	-0.329419	0.41535	T	0.0412854200666894	0.03923	T	0.864413	0.57175	D	0.39097175	0.60101	0.32962814	0.58840	0.39097175	0.60101	0.32962814	0.58839	-7.552	0.58722	D	.	.	0.395	0.60878	A	.;.;.;.;.;.	.;.;.;.;.;.	2.652812	0.34540	19.66	0.99836355148312439	0.91714	0.83284	0.42414	D	AEFDBI	0.245503	0.36642	N	0.128706712354709	0.47806	3.001184	0.011668260501179	0.40255	2.399558	0.999063389189316	0.38343	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.58	0.421	0.15669	3.609000	0.53867	.	.	0.671000	0.69459	1.000000	0.71638	0.002000	0.18203	0.934000	0.47231	0.2384:0.0:0.7616:0.0	7.503	0.26695	689	0.59000	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.011364	0.05	2293.43	166	chr19	37363386	.	G	A	2293.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.798;DP=871;ExcessHet=0;FS=0.564;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=-0.035;SOR=0.756	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	9	0	1	0
chr19	37740177	37740177	C	T	exonic	ZNF573	.	nonsynonymous SNV	ZNF573:NM_001172692:exon4:c.G49A:p.E17K,ZNF573:NM_001172690:exon5:c.G313A:p.E105K,ZNF573:NM_001172691:exon5:c.G307A:p.E103K,ZNF573:NM_001172689:exon6:c.G49A:p.E17K,ZNF573:NM_152360:exon8:c.G139A:p.E47K	.	482	1036	4	0	0	4	0.00192678	.	.	.	3361361	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.000806178261955	.	.	0.0001	0	0	0	0	0.0002	0.0012	0	0.0001164	18	154602	rs200216101	9.976e-05	0.0001	0.0001	9.52e-05	0.0002	8.603e-05	8.129e-05	4.983e-05	4.56e-05	0	2.62e-05	0.0021	0	0.0001	0.0002	6.22e-05	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	8.173e-05	6.728e-05	5.287e-05	2.835e-05	0	0	0.0002	0.0035	0	0	0	4.411e-05	0.0005	0	0.33	0.16793	T	0.551	0.17217	T	0.22	0.30288	B	0.112	0.31615	B	.	.	.	.	1	0.23248	N	.	.	.	3.41	0.06762	T	0.84	0.01761	N	0.122	0.17278	-0.9437	0.42025	T	0.011	0.04181	T	9	0.007248968	0.00165	T	8.06E-4	0.00629	T	0.030	0.07022	.	.	0.149567049428	0.14543	0.2739243562034503	0.27305	0.0895599370888	0.10117	0.502771377563	0.39214	T	0.005076	0.04506	T	-0.459629	0.00988	T	-0.6723	0.07462	T	0.0253506547036189	0.01319	T	0.544846	0.24302	T	0.08940624	0.20888	0.21477821	0.46041	0.08940624	0.20887	0.21477821	0.46040	-2.775	0.21629	T	.	.	0.095	0.31279	B	.;.;.;.;.;.	.;.;.;.;.;.	1.326899	0.17317	13.09	0.97991247037071583	0.37401	0.01710	0.05428	N	AEFGBI	0.038663	0.05503	N	-0.826511789408889	0.12635	0.6171349	-0.830441399210184	0.13758	0.7154902	0.00483881552429486	0.10731	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.97	0.919	0.18518	-0.375000	0.07532	.	.	0.597000	0.34315	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.8327:0.0:0.1673	6.440	0.21045	648	0.63242	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	878.43	41	chr19	37740177	.	C	T	878.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.078;DP=419;ExcessHet=0;FS=2.53;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.69;ReadPosRankSum=0.745;SOR=1.151	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr19	37885098	37885098	T	C	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.A8573G:p.Q2858R,WDR87:NM_031951:exon6:c.A8456G:p.Q2819R	.	437	1068	17	0	0	17	0.00789596	.	.	.	1662152	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.007	0.0136131210889	0.0013	0.000399361	0.0029	0	0	0	0.0055	0.0039	0	0	0.0005045	78	154602	rs200123506	0.0019	0.0018	0.0019	0.0019	0.0028	0.0018	0.0018	0.0018	0.0017	7.011e-05	0.0011	0.0090	0	0.0058	0.0028	0.0018	0.0023	0.0004	0.0019	0.0019	0.0017	0.0020	0.0024	0.0017	0.0016	0.0021	0.0020	0.0001	0	0.0009	0.0133	0	0.0043	0.0034	0.0024	0.0019	0.0006	0.109	0.29288	T	0.293	0.20811	T	0.035	0.20614	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	.	.	.	3.01	0.09075	T	-0.3	0.11913	N	0.091	0.07125	-0.9616	0.38877	T	0.014	0.05608	T	9	0.005478412	0.00121	T	0.013613	0.33144	T	0.007	0.00512	.	.	0.0297737177859	0.01360	0.07583108261841237	0.07519	.	.	0.251006901264	0.03875	T	.	.	.	-0.679969	0.00048	T	-0.748964	0.03526	T	0.00149872047570043	0.00015	T	0.264874	0.04312	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08754	B	.;.	.;.	1.064228	0.14459	11.03	0.17725466412183147	0.00528	0.01657	0.05315	N	AEFBI	0.054095	0.09806	N	-1.34952930495152	0.03130	0.1393119	-1.38707649216665	0.03389	0.1579785	2.36522375841724E-4	0.06095	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.81	-2.55	0.05922	0.245000	0.17917	.	.	-0.770000	0.03453	0.022000	0.19841	0.000000	0.08366	0.000000	0.00833	0.2831:0.0:0.3996:0.3173	4.200	0.09923	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001217	0.000000	0.000000	0.008696	0.000000	0.000000	0.000000	0.012500	0.05	1463.43	125	chr19	37885098	.	T	C	1463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.249;DP=1139;ExcessHet=0;FS=5.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.182;SOR=1.255	GT:AD:DP:GQ:PL	0/0:114,0:114:99:0,120,1800	9	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	1219.23	94	chr19	37887093	.	A	G	1219.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-4.045;DP=912;ExcessHet=2.8389;FS=220.707;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.746;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,10:73:27:0|1:37887093_A_G:27,0,1984:37887093	4	0	5	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1684.09	82	chr19	37887095	.	C	T	1684.09	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.008;DP=898;ExcessHet=4.5998;FS=234.958;InbreedingCoeff=-0.6664;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=0.853;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,10:73:27:0|1:37887093_A_G:27,0,1984:37887093	0	0	6	4
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1987.18	91	chr19	37887096	.	A	G	1987.18	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.166;DP=879;ExcessHet=2.8389;FS=279.749;InbreedingCoeff=-0.5261;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=0.833;SOR=9.883	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:47,0:47:0:.:.:0,0,1077:.	2	0	5	3
chr19	37890060	37890060	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T3611C:p.I1204T,WDR87:NM_031951:exon6:c.T3494C:p.I1165T	.	425	1091	5	1	0	7	0.00319781	.	.	.	2229803	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00833711579251	.	.	0.0002	0	0	0	0	0	0	0.0005	2.59e-05	4	154602	rs758520294	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0012	0.0010	3.165e-05	0.0002	0	0	0	0.0021	0.0002	0.0004	0.0008	0.0002	0.0002	0.0003	0.0002	0.0015	0.0002	0.0002	0.0007	0.0005	0	0.0033	0.0001	0	0	0	0.0034	0.0003	0.0014	0.0015	0.416	0.10115	T	0.162	0.31225	T	0.0	0.02946	B	0.0	0.01387	B	0.000613	0.00648	N	4.052960	1	0.08975	N	.	.	.	2.91	0.10008	T	-0.68	0.19509	N	0.037	0.01911	-0.9787	0.35299	T	0.020	0.08546	T	10	0.016028851	0.00337	T	0.008337	0.22080	T	0.029	0.06676	.	.	0.0297737177859	0.01360	0.024826889145623813	0.02433	.	.	0.362318187952	0.19724	T	.	.	.	-0.648623	0.00074	T	-0.788751	0.02199	T	0.0165518793706152	0.00417	T	0.346465	0.07620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.24532	B	.;.	.;.	0.287644	0.06639	3.139	0.24587196415232887	0.01094	0.01817	0.05653	N	AEFGBI	0.042187	0.06514	N	-1.21600318709541	0.04767	0.2158694	-1.27286455628604	0.04801	0.2273266	0.437327525487447	0.20424	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.29	-1.7	0.07721	0.621000	0.24112	.	.	-0.076000	0.16278	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3051:0.1559:0.3874:0.1515	1.961	0.03180	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002445	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.05	2097.43	113	chr19	37890060	.	A	G	2097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.421;DP=597;ExcessHet=0;FS=1.943;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-1.016;SOR=0.756	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr19	38320264	38320264	C	T	exonic	KCNK6	.	nonsynonymous SNV	KCNK6:NM_004823:exon1:c.C314T:p.T105I	.	421	1088	13	0	0	13	0.00593878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	.	.	0.00379393	0.0031	0.0001	0.0003	0	0	0.0003	0.0036	0.0202	0.0024967	386	154602	rs201520164	0.0014	0.0014	0.0008	0.0019	0.0197	0.0013	0.0013	0.0189	0.0186	6.024e-05	0.0007	0.0003	2.532e-05	0	0.0035	0.0001	0.0018	0.0197	0.0008	0.0008	0.0005	0.0010	0.0163	0.0006	0.0006	0.0134	0.0124	0	0	0.0015	0.0006	0	0	0.0102	0.0001	0.0005	0.0163	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.978	0.74104	D	0.000001	0.84330	D	0.054079	0.999999	0.58761	D	2.645	0.77386	M	1.23	0.36872	T	-4.47	0.77881	D	0.82	0.81559	-0.4025	0.71948	T	0.263	0.63405	T	10	0.011172533	0.00245	T	.	.	.	0.338	0.66010	.	.	0.67526397899	0.67251	0.9613861708462629	0.96124	0.45283389639	0.44990	0.762634932995	0.76322	T	0.801009	0.94926	D	-0.281556	0.10503	T	-0.162275	0.58147	T	0.310088872909546	0.25418	T	0.874313	0.58483	D	0.88425577	0.90020	0.7882379	0.87537	0.88425577	0.90021	0.7882379	0.87537	-12.015	0.84925	D	.	.	0.969	0.89197	P	.	.	5.528987	0.91856	32	0.99838099389374102	0.91886	0.88725	0.48791	D	ALL	0.467504	0.51470	N	0.756002455077173	0.83297	7.980286	0.657682372197412	0.79184	7.02907	0.999999928797158	0.74766	0.789315	0.99827	0	0.748881	0.99253	0	0.768056	0.98339	0	0.618803	0.45993	0	.	.	4.57	3.48	0.38946	4.937000	0.63213	5.966000	0.51911	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8162:0.1838:0.0	12.440	0.54956	607	0.67291	Potassium channel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	780.43	33	chr19	38320264	.	C	T	780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.518;DP=363;ExcessHet=0;FS=10.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=1.34;SOR=0.145	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1059	9	0	1	0
chr19	38362267	38362267	G	C	exonic	CATSPERG	.	nonsynonymous SNV	CATSPERG:NM_001330496:exon17:c.G2032C:p.D678H,CATSPERG:NM_021185:exon18:c.G2152C:p.D718H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.022606607569	.	.	2.812e-05	0	0	0	0	5.151e-05	0	0	1.94e-05	3	154602	rs778867060	1.506e-05	1.505e-05	1.362e-05	1.651e-05	0.0002	9.86e-06	8.42e-06	9.32e-06	7.62e-06	0	2.238e-05	0	0	0	0.0002	1.529e-05	4.977e-05	0	6.574e-06	6.567e-06	1.285e-05	0	6.546e-05	0	0	.	.	0	0	6.546e-05	0	0	0	0	0	0	0	0.16	0.24090	T	0.181	0.29346	T	0.971	0.57185	D	0.875	0.62107	P	0.219940	0.16162	N	0.550566	1	0.22348	N	1.87	0.49600	L	1.13	0.38556	T	-1.5	0.36586	N	0.615	0.63120	-1.0204	0.23584	T	0.127	0.43421	T	10	0.23514801	0.40570	T	0.022607	0.45515	T	0.062	0.17934	0.341	0.33302	0.213573922156	0.20996	0.5404564624201001	0.53970	2.02551538596	0.94040	0.420376002789	0.27888	T	0.02877	0.20767	T	-0.261193	0.12760	T	-0.453485	0.27313	T	0.0607620105147362	0.07288	T	0.70043	0.31009	T	0.055918846	0.10932	0.04745525	0.06840	0.055918846	0.10931	0.04745525	0.06840	-3.694	0.19230	T	.	.	0.374	0.58066	A	.;.	.;.	2.002627	0.25446	16.76	0.98059599497142336	0.37936	0.06500	0.12510	N	ALL	0.092834	0.18790	N	-0.605178544570238	0.18788	0.9782331	-0.764732146120991	0.15361	0.8074878	0.999997904221317	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.519653	0.09787	0	0.618803	0.45993	0	.	.	4.61	-0.999	0.09686	-0.289000	0.08401	0.694000	0.20791	0.590000	0.31872	0.000000	0.06391	0.151000	0.23179	0.003000	0.05239	0.0968:0.1552:0.4306:0.3174	2.625	0.04628	610	0.67008	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	772.43	35	chr19	38362267	.	G	C	772.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.386;DP=371;ExcessHet=0;FS=0.998;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.74;SOR=0.471	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1017	9	0	1	0
chr19	38734855	38734855	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon15:c.G1702A:p.A568T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0123639991189	.	.	4.244e-05	0	0	0	0	7.746e-05	0	0	3.23e-05	5	154602	rs750315892	2.191e-05	2.257e-05	2.18e-05	2.202e-05	5.974e-05	1.586e-05	1.357e-05	1.663e-05	1.425e-05	5.974e-05	0	0	0	0	0	2.428e-05	4.97e-05	0	2.628e-05	2.627e-05	1.285e-05	4.035e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.038	0.42783	D	0.119	0.39954	T	0.004	0.12183	B	0.002	0.06944	B	0.239627	0.15740	N	0.620129	1	0.08975	N	1.715	0.44382	L	1.46	0.32238	T	-1.69	0.40274	N	0.303	0.34228	-1.0333	0.19395	T	0.056	0.23753	T	10	0.10209006	0.18691	T	0.012364	0.30863	T	0.034	0.08419	0.367	0.37524	0.254761474806	0.25079	0.24446629570988485	0.24360	0.0604135776628	0.06713	0.332114040852	0.15254	T	0.04745	0.27726	T	-0.350615	0.04688	T	-0.561115	0.16273	T	0.0491500688427592	0.05350	T	0.656534	0.26618	T	0.14248285	0.32787	0.11007891	0.26537	0.14248285	0.32787	0.11007891	0.26536	-6.539	0.50586	T	.	.	0.083	0.12228	B	.;.	.;.	1.584963	0.20279	14.67	0.94986304704948099	0.25931	0.06282	0.12275	N	AEFDGBCI	0.118368	0.23148	N	-0.78551077520995	0.13686	0.6760529	-0.837271604009136	0.13594	0.7060332	0.999999750419889	0.74766	0.72623	0.87236	0	0.484254	0.07192	0	0.594344	0.31042	0	0.662026	0.63922	0	.	.	4.1	1.86	0.24489	0.934000	0.28510	2.150000	0.30904	0.599000	0.40250	0.012000	0.18695	0.974000	0.29927	0.006000	0.07323	0.0:0.7748:0.0:0.2252	6.86	0.23244	680	0.59965	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.05	831.43	33	chr19	38734855	.	C	T	831.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.575;DP=380;ExcessHet=0;FS=0.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=1.04;SOR=0.555	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1097	9	0	1	0
chr19	38740121	38740122	TT	-	exonic	CAPN12	.	frameshift deletion	CAPN12:NM_144691:exon5:c.658_659del:p.N220Qfs*25	.	421	1096	5	0	0	5	0.00227583	.	.	.	772675	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0008	0	0.0002	0	0	6.307e-05	0	0.0055	0.0001921	5	26028	rs576857054	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0	0.0005	0	0	0	0.0007	2.248e-05	0.0001	0.0046	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0001	0.0018	0.0014	0	0	0.0012	0	0	0	0	1.47e-05	0	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	544.39	33	chr19	38740120	.	GTT	G	544.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=350;ExcessHet=0;FS=4.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=0.573;SOR=0.936	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	9	0	1	0
chr19	38945097	38945097	C	G	exonic	FBXO17	.	nonsynonymous SNV	FBXO17:NM_024907:exon5:c.G565C:p.A189P,FBXO17:NM_148169:exon5:c.G592C:p.A198P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	0.0166350756511	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1039081740	2.737e-06	2.736e-06	1.361e-06	4.126e-06	8.962e-05	6.4e-07	4.3e-07	2.375e-05	1.258e-05	8.962e-05	0	0	0	0	0	8.993e-07	0	0	2.627e-05	2.626e-05	1.284e-05	4.033e-05	9.647e-05	8.14e-06	5.14e-06	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	0	0	0	0.124	0.27426	T	0.166	0.30828	T	1.0	0.90584	D	0.999	0.92359	D	0.002926	0.35704	N	0.118955	.	.	.	0.83	0.20963	L	1.59	0.28836	T	-2.28	0.50830	N	0.705	0.70878	-0.9370	0.43088	T	0.116	0.41075	T	9	0.73151624	0.74330	D	0.016635	0.37992	T	0.161	0.41658	.	.	0.507031862817	0.50341	0.4806312741349429	0.47983	1.2737914311	0.82358	.	.	.	0.044688	0.26894	T	-0.119082	0.33274	T	-0.408829	0.32360	T	0.698192656040192	0.40633	D	.	.	.	0.14477232	0.33217	0.28989258	0.55011	0.14477232	0.33216	0.28989258	0.55010	-7.839	0.59968	D	.	.	0.304	0.53340	B	.;.	.;.	3.729169	0.53338	23.4	0.99041129319524046	0.51028	0.43789	0.27175	N	AEFDBI	0.180066	0.30737	N	-0.00889660447297425	0.41451	2.479655	0.0100426092953897	0.40179	2.393867	0.0916481878131122	0.16140	0.706548	0.73137	0	0.588066	0.40923	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.58	4.58	0.56077	1.925000	0.39705	1.324000	0.25623	0.549000	0.26987	0.949000	0.33028	0.780000	0.26771	0.165000	0.20815	0.0:0.8108:0.1892:0.0	10.991	0.46763	666	0.61362	F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain|F-box associated (FBA) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	920.43	34	chr19	38945097	.	C	G	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.95;DP=378;ExcessHet=0;FS=2.092;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=0.754;SOR=0.98	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1099	9	0	1	0
chr19	39244094	39244094	T	C	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon3:c.A322G:p.T108A,IFNL3:NM_001346937:exon4:c.A334G:p.T112A	.	408	1081	33	0	0	33	0.0150342	.	.	.	716424	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.027	.	0.0080	0.00658946	0.0063	0.0084	0.0023	0	0.0009	0.0072	0.0033	0.0096	0.0057502	889	154602	rs148543092	0.0076	0.0077	0.0076	0.0076	0.0153	0.0075	0.0075	0.0127	0.0117	0.0075	0.0028	0.0169	2.519e-05	0.0005	0.0153	0.0080	0.0090	0.0096	0.0065	0.0066	0.0069	0.0061	0.0098	0.0062	0.0061	0.0076	0.0068	0.0072	0.0011	0.0033	0.0170	0	0.0003	0.0272	0.0075	0.0057	0.0098	0.598	0.05668	T	0.564	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.181763	0.03187	N	1.646800	1	0.08975	N	-0.805	0.01590	N	1.63	0.28002	T	0.07	0.06138	N	0.095	0.08786	-1.0032	0.28992	T	0.013	0.04843	T	10	0.004872024	0.00104	T	.	.	.	0.027	0.05988	.	.	0.0551355673512	0.04727	0.06321474939485254	0.06260	0.194421687405	0.21778	0.238838389516	0.02687	T	0.00212	0.01528	T	-0.653927	0.00068	T	-0.704564	0.05580	T	0.000677952636739895	0.00006	T	0.0663934	0.00484	T	0.06118931	0.12643	0.05127555	0.08218	0.06118931	0.12643	0.05127555	0.08217	-2.013	0.03230	T	.	.	0.061	0.01161	B	.;.	.;.	-1.429335	0.00340	0.006	0.26308200845364488	0.01254	0.00123	0.00769	N	AEFDGI	0.018149	0.00528	N	-2.01541304609239	0.00196	0.008400045	-2.0513431503479	0.00237	0.01046984	0.0605367096954669	0.15200	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.1	-5.88	0.02100	-3.477000	0.00510	.	.	-1.370000	0.01171	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.2254:0.0:0.7746	10.056	0.41419	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011078	0.000000	0.005435	0.023392	0.000000	0.025862	0.018293	0.011364	0.05	1374.43	34	chr19	39244094	.	T	C	1374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.358;DP=476;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.66;MQRankSum=1.61;QD=10.82;ReadPosRankSum=-0.884;SOR=0.922	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1168	9	0	1	0
chr19	39244889	39244889	G	A	exonic	IFNL3	.	nonsynonymous SNV	IFNL3:NM_172139:exon1:c.C79T:p.L27F,IFNL3:NM_001346937:exon2:c.C91T:p.L31F	.	403	1115	4	0	0	4	0.00179051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	0.00279553	0.0012	9.632e-05	8.64e-05	0	0	0	0.0011	0.0086	0.0010608	164	154602	rs201680991	0.0005	0.0005	0.0002	0.0007	0.0075	0.0004	0.0004	0.0070	0.0068	0	4.473e-05	0	0	0	0	1.799e-06	0.0003	0.0075	0.0002	0.0002	0.0001	0.0004	0.0077	0.0002	0.0002	0.0057	0.0050	2.406e-05	0	0	0	0	0	0	0	0	0.0077	0.43	0.09543	T	0.524	0.11621	T	0.589	0.39027	P	0.122	0.32387	B	0.736970	0.09808	N	0.862148	1	0.08975	N	0.69	0.16971	N	2.47	0.14783	T	-0.62	0.18248	N	0.109	0.09490	-0.9860	0.33590	T	0.016	0.06664	T	10	0.0033676326	0.00059	T	.	.	.	0.015	0.02232	0.283	0.23961	0.0297737177859	0.01360	0.08008041072275539	0.07943	0.276752541315	0.30141	0.300304949284	0.10446	T	0.005311	0.04761	T	-0.678019	0.00049	T	-0.741717	0.03819	T	0.927309036254883	0.59008	D	0.377062	0.09013	T	0.04015777	0.05680	0.06262698	0.12281	0.04015777	0.05680	0.06262698	0.12280	-4.893	0.35656	T	.	.	0.100	0.17275	B	.;.	.;.	0.258687	0.06375	2.838	0.11735391697985101	0.00185	0.01293	0.04500	N	AEFDGI	0.031894	0.03500	N	-1.08820821815591	0.06859	0.3169788	-1.19666409138047	0.05966	0.2857517	4.17995357617156E-4	0.06899	0.59774	0.34471	0	0.547309	0.14657	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.14	-1.25	0.08920	-0.860000	0.04380	.	.	0.588000	0.31329	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1408:0.4055:0.4537:0.0	5.555	0.16400	584	0.69381	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001138	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004167	0.05	2459.43	34	chr19	39244889	.	G	A	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.056;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.37;MQRankSum=0.178;QD=12;ReadPosRankSum=0.048;SOR=0.712	GT:AD:DP:GQ:PL	0/1:100,105:205:99:2471,0,2364	9	0	1	0
chr19	39418017	39418017	G	T	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon9:c.G818T:p.G273V,PLEKHG2:NM_001351694:exon9:c.G995T:p.G332V,PLEKHG2:NM_022835:exon9:c.G995T:p.G332V	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	420	1070	30	2	0	34	0.0156394	.	.	.	1610372	not_provided|Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B	MedGen:C3661900|MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.530	.	0.0062	0.00658946	0.0189	0.0029	0.0141	0.0007	0.0113	0.0208	0.0312	0.0415	0.0079042	1222	154602	rs117405645	0.0095	0.0095	0.0093	0.0097	0.0217	0.0094	0.0093	0.0185	0.0174	0.0017	0.0074	0.0086	0.0001	0.0031	0.0217	0.0099	0.0096	0.0169	0.0074	0.0074	0.0072	0.0076	0.0176	0.0070	0.0069	0.0146	0.0135	0.0024	0	0.0112	0.0089	0.0002	0.0021	0.0308	0.0099	0.0142	0.0176	0.004	0.65419	D	0.012	0.63918	D	1.0	0.90584	D	0.998	0.88582	D	0.000279	0.46590	D	0.143807	0.999999	0.58761	D	1.245	0.31408	L	-2.24	0.87194	D	-2.04	0.49684	N	0.383	0.46835	-0.1804	0.78170	T	0.381	0.73774	T	10	0.0092255175	0.00208	T	.	.	.	0.530	0.80188	.	.	0.830166376265	0.82855	0.4847988160656083	0.48399	.	.	0.773349881172	0.77925	T	0.004272	0.03680	T	-0.211521	0.19166	T	-0.0629856	0.66123	T	0.0240597923232598	0.01153	T	0.875712	0.58780	D	0.1913511	0.40759	0.16917193	0.38932	0.1935495	0.41069	0.16917193	0.38931	-13.033	0.89499	D	.	.	0.61	0.69292	P	.;.;.	.;.;.	4.848343	0.79229	27.1	0.99764376607998473	0.85335	0.94590	0.61662	D	AEFBI	0.628148	0.61034	D	0.261891830940901	0.54231	3.589069	0.349564429723923	0.58480	4.018855	0.999999469872948	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.65	4.65	0.57626	3.909000	0.56076	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1:0.0:0.9:0.0	8.934	0.34849	688	0.59122	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021047	0.021978	0.028610	0.002924	0.000000	0.034483	0.022013	0.026718	0.05	893.43	36	chr19	39418017	.	G	T	893.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.488;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.34;SOR=0.746	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,961	9	0	1	0
chr19	39605345	39605345	A	G	exonic	LGALS13	.	nonsynonymous SNV	LGALS13:NM_013268:exon3:c.A260G:p.K87R	.	415	1096	11	0	0	11	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000939910630321	0.0026	0.00119808	0.0021	0.0004	0.0010	0	0.0002	0.0032	0.0033	0.0015	0.0022186	343	154602	rs74400185	0.0029	0.0029	0.0029	0.0029	0.0035	0.0028	0.0028	0.0034	0.0033	0.0005	0.0012	3.826e-05	0	0.0005	0.0016	0.0035	0.0027	0.0015	0.0018	0.0018	0.0019	0.0016	0.0031	0.0016	0.0015	0.0028	0.0027	0.0005	0	0.0015	0	0	0.0003	0.0034	0.0031	0.0028	0.0006	0.108	0.29420	T	0.194	0.28120	T	0.164	0.28467	B	0.16	0.34752	B	.	.	.	.	1	0.08975	N	2.28	0.64929	M	3.24	0.06845	T	-1.6	0.38540	N	0.123	0.11769	-1.0021	0.29313	T	0.019	0.07893	T	8	0.0072447658	0.00165	T	9.4E-4	0.00934	T	0.024	0.04979	.	.	0.264081493735	0.26024	0.08971709144845476	0.08904	0.12895111221	0.14542	0.346894532442	0.17463	T	0.026941	0.31449	T	-0.659815	0.00063	T	-0.722661	0.04668	T	0.568535149097443	0.35179	D	0.485951	0.42712	T	0.30519283	0.53366	0.31238282	0.57241	0.30519283	0.53366	0.31238282	0.57240	-4.766	0.34192	T	.	.	0.083	0.11269	B	.;.;.	.;.;.	0.712856	0.10815	7.499	0.94801021998491752	0.25550	0.01032	0.03867	N	AEFDBI	0.036845	0.04973	N	-0.848353706862818	0.12090	0.5872528	-1.0208118497283	0.09328	0.463455	1.07707322580509E-4	0.05123	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.744	0.744	0.17503	1.250000	0.32453	.	.	0.413000	0.20698	0.003000	0.16062	0.000000	0.08366	0.024000	0.12247	.	.	.	819	0.41190	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2497.43	34	chr19	39605345	.	A	G	2497.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.215;DP=480;ExcessHet=0;FS=1.284;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=-0.976;SOR=0.832	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1269	9	0	1	0
chr19	39658623	39658623	G	A	exonic	LGALS16	.	nonsynonymous SNV	LGALS16:NM_001190441:exon3:c.G256A:p.G86S	.	419	1091	12	0	0	12	0.00546946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.000903845796717	.	0.000998403	0.0012	0.0005	0.0008	0	0.0002	0.0016	0.0030	0.0009	0.0009444	146	154602	rs187604453	0.0012	0.0012	0.0012	0.0012	0.0073	0.0012	0.0012	0.0055	0.0049	0.0002	0.0007	0.0032	5.084e-05	2.113e-05	0.0073	0.0013	0.0018	0.0009	0.0009	0.0009	0.0010	0.0008	0.0013	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0005	0.0026	0	9.422e-05	0.0136	0.0013	0.0024	0.0010	0.039	0.42487	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.71	0.26737	T	-5.27	0.84175	D	0.251	0.28381	-0.9872	0.33298	T	0.168	0.50681	T	9	0.009722263	0.00219	T	9.04E-4	0.00844	T	0.047	0.12962	.	.	0.183819452728	0.17975	0.5909253620122654	0.59022	0.167835925792	0.18923	0.361620247364	0.19622	T	.	.	.	-0.476054	0.00780	T	-0.481222	0.24317	T	0.0975939031019295	0.12090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.45136	B	.	.	1.446714	0.18669	13.86	0.99286401174468941	0.58113	0.00717	0.03025	N	AEFDGBI	0.035108	0.04464	N	-0.150566375532353	0.35211	2.019585	-0.480343203511703	0.22695	1.234002	1.04301909415642E-4	0.05123	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.21	1.21	0.20240	0.536000	0.22838	.	.	0.366000	0.20181	0.003000	0.16062	0.001000	0.17328	0.008000	0.08271	0.0:0.0:1.0:0.0	5.719	0.17244	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005699	0.000000	0.009511	0.010490	0.000000	0.017241	0.003049	0.000000	0.05	2115.43	33	chr19	39658623	.	G	A	2115.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.184;DP=477;ExcessHet=0;FS=1.24;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.347;SOR=0.59	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	39734391	39734391	G	C	exonic	CLC	.	nonsynonymous SNV	CLC:NM_001828:exon3:c.C195G:p.N65K	.	432	1068	22	0	0	22	0.0101946	.	.	.	1226484	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0048	0.0175719	0.0156	0.0016	0.0858	0.0001	0.0212	0.0082	0.0198	0.0108	0.0149545	2312	154602	rs146776010	0.0092	0.0092	0.0095	0.0089	0.0770	0.0091	0.0091	0.0749	0.0740	0.0014	0.0770	0.0080	0.0003	0.0197	0.0064	0.0064	0.0098	0.0114	0.0099	0.0099	0.0089	0.0109	0.0393	0.0095	0.0093	0.0367	0.0357	0.0017	0	0.0393	0.0069	0.0006	0.0275	0	0.0066	0.0104	0.0102	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.525	0.93020	H	2.08	0.20255	T	-5.65	0.86988	D	0.274	0.31027	-1.0830	0.06776	T	0.049	0.20829	T	9	0.013160795	0.00280	T	.	.	.	0.172	0.43662	0.944	0.99279	.	.	0.7935249587468006	0.79305	0.572193134915	0.53323	0.513832569122	0.40758	T	0.242098	0.61076	T	-0.442899	0.01243	T	-0.350619	0.39134	T	0.117375244126459	0.14170	T	0.774523	0.40643	T	0.8447447	0.86950	0.6914708	0.81843	0.8447447	0.86952	0.6914708	0.81844	-9.506	0.70896	D	.	.	0.793	0.76947	P	.	.	2.256304	0.28829	17.92	0.98271926166454837	0.39768	0.18700	0.20367	N	AEFBI	0.057236	0.10646	N	0.0414603438479702	0.43750	2.661897	-0.295433822146976	0.28248	1.573534	2.66176801233615E-5	0.03498	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	1.3	1.3	0.20778	1.593000	0.36297	.	.	0.367000	0.20222	0.660000	0.28260	0.083000	0.22416	0.007000	0.07825	0.0:0.0:1.0:0.0	5.870	0.18043	862	0.33134	Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain|Galectin, carbohydrate recognition domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.022727	0.05	2230.43	34	chr19	39734391	.	G	C	2230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.935;DP=629;ExcessHet=0;FS=4.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.109;SOR=0.491	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	9	0	1	0
chr19	39893102	39893102	C	A	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon14:c.G6265T:p.D2089Y	.	.	.	.	.	.	.	.	.	.	.	2341781	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.314	0.0218388449998	.	.	5.416e-05	0	0.0005	0	0	0	0	0	6.5e-06	1	154602	rs777205080	0.0018	0.0017	0.0019	0.0017	0.0064	0.0017	0.0017	0.0056	0.0052	0.0001	0.0064	0.0008	9.203e-05	0.0005	0	0.0019	0.0012	0.0003	0.0014	0.0019	0.0017	0.0011	0.0038	0.0012	0.0012	0.0030	0.0027	0.0002	0.0148	0.0038	0.0015	0.0002	0	0	0.0017	0.0016	0.0014	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.956106	0.26310	N	.	.	.	.	.	.	.	.	.	.	.	-0.7413	0.58386	T	0.314	0.68379	T	9	0.022603244	0.00569	T	0.021839	0.44662	T	.	.	.	.	0.231873229951	0.22792	.	.	.	.	0.855603575706	0.90458	D	0.210689	0.57125	T	0.0406017	0.57124	T	-0.179455	0.56573	T	0.259375568377271	0.23287	T	0.875013	0.58582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.643	0.70645	P	.	.	3.726654	0.53285	23.3	0.9944077615537259	0.64770	0.39781	0.26290	N	AEFI	0.239127	0.36114	N	0.0984551086942722	0.46391	2.880135	-0.0475550126627741	0.37597	2.203448	6.40343135156876E-5	0.04366	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	2.48	2.48	0.29194	1.046000	0.29964	.	.	0.299000	0.18918	0.440000	0.26487	0.086000	0.22461	0.938000	0.47775	0.0:1.0:0.0:0.0	12.116	0.53167	721	0.55360	von Willebrand factor, type D domain|von Willebrand factor, type D domain|VWFC domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	77.67	9	chr19	39893102	.	C	A	77.67	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.498;DP=52;ExcessHet=0;FS=7.404;MLEAC=1;MLEAF=0.056;MQ=35.26;MQRankSum=1.25;QD=7.06;ReadPosRankSum=-0.285;SOR=2.8	GT:AD:DP:GQ:PL	0/0:1,0:1:3:0,3,16	8	0	1	1
chr19	39915399	39915399	T	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon5:c.A2615G:p.Y872C	.	425	1091	6	0	0	6	0.00274223	.	.	.	2359022	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.519	0.0963856147158	0.0013	0.000798722	0.0011	0.0005	0.0008	0	0	0.0015	0	0.0011	0.0008279	128	154602	rs150766794	0.0012	0.0010	0.0012	0.0012	0.0025	0.0011	0.0011	0.0014	0.0012	0.0002	0.0009	0.0028	0	3.098e-05	0.0025	0.0013	0.0009	0.0007	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0014	0.0032	0	0	0.0034	0.0010	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	0.000008	0.62929	D	0.000000	0.971595	0.38883	D	.	.	.	.	.	.	.	.	.	.	.	0.252	0.86771	D	0.510	0.81604	D	10	0.047246516	0.04017	T	0.096386	0.76594	D	.	.	.	.	.	.	.	.	.	.	0.768693327904	0.77229	T	.	.	.	0.143401	0.68648	D	0.387657	0.91697	D	0.176212698221207	0.18993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.166289	0.86585	29.0	0.99788736684908597	0.87484	0.99263	0.93634	D	AEFDBI	0.814095	0.73640	D	0.749172804148579	0.82851	7.865983	0.643834752409823	0.78152	6.819207	0.919517521321482	0.26604	0.59774	0.34471	0	0.588066	0.40923	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	4.59	4.59	0.56297	6.150000	0.71577	.	.	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	13.237	0.59404	627	0.65350	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003535	0.005102	0.002717	0.000000	0.100000	0.000000	0.000000	0.003788	0.05	2055.43	36	chr19	39915399	.	T	C	2055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.714;DP=453;ExcessHet=0;FS=4.953;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.444;SOR=1.085	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	9	0	1	0
chr19	40015045	40015045	G	A	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.G1697A:p.R566H,ZNF546:NM_178544:exon7:c.G1775A:p.R592H	.	.	.	.	.	.	.	.	.	.	.	3638963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00155790494283	.	0.000199681	1.651e-05	0	0	0.0001	0	0	0	6.061e-05	1.29e-05	2	154602	rs559273469	3.489e-05	3.489e-05	3.403e-05	3.575e-05	0.0002	2.697e-05	2.438e-05	2.711e-05	2.387e-05	8.961e-05	4.472e-05	0	7.557e-05	0	0.0002	3.597e-05	1.656e-05	1.159e-05	6.582e-05	6.567e-05	9.014e-05	4.039e-05	0.0006	3.522e-05	2.62e-05	0.0002	8.452e-05	4.83e-05	0	0	0	0.0006	0	0.0034	5.886e-05	0	0	0.591	0.05790	T	0.218	0.26066	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.665	0.16292	N	3.5	0.05014	T	-0.79	0.21860	N	0.079	0.05414	-0.9069	0.47227	T	0.008	0.02842	T	9	0.044699043	0.03456	T	0.001558	0.02471	T	0.112	0.31546	0.405	0.43738	0.165133752707	0.16062	0.031019268899636233	0.03050	0.221501517117	0.24687	0.300437986851	0.10466	T	0.003887	0.03292	T	-0.446543	0.01183	T	-0.710076	0.05291	T	0.0483104089973084	0.05200	T	.	.	.	0.026038075	0.01611	0.02657722	0.00754	0.026038075	0.01611	0.02657722	0.00754	-5.193	0.38871	T	.	.	0.346	0.56331	A	.;.	.;.	1.258559	0.16560	12.62	0.8988779881672434	0.19191	0.01820	0.05660	N	AEFGBHCI	0.039225	0.05668	N	-1.03901532867675	0.07805	0.3638066	-1.02016818519924	0.09342	0.464229	0.00117264440454315	0.08304	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	3.0	0.758	0.17579	-1.331000	0.02779	.	.	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2629:0.0:0.4985:0.2386	2.469	0.04281	769	0.49307	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1012.43	43	chr19	40015045	.	G	A	1012.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=471;ExcessHet=0;FS=5.033;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.472;SOR=0.936	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1366	9	0	1	0
chr19	40034701	40034701	T	C	exonic	ZNF780B	.	nonsynonymous SNV	ZNF780B:NM_001005851:exon5:c.A2158G:p.T720A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00258519917037	7.7e-05	.	2.484e-05	0	8.648e-05	0	0	3e-05	0	0	2.59e-05	4	154602	rs373373493	3.42e-05	3.42e-05	3.539e-05	3.3e-05	0.0001	2.631e-05	2.375e-05	5.849e-05	3.758e-05	0.0001	2.236e-05	0	0	0	0	3.417e-05	9.935e-05	0	1.972e-05	1.97e-05	3.854e-05	0	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.024	0.47745	D	0.012	0.63918	D	0.613	0.39753	P	0.219	0.37734	B	.	.	.	.	0.919031	0.27336	N	0.905	0.23240	L	1.73	0.26445	T	-3.56	0.71276	D	0.111	0.17691	-1.0568	0.12569	T	0.053	0.22346	T	9	0.14339045	0.27224	T	0.002585	0.05206	T	0.024	0.04979	.	.	0.390842690916	0.38694	0.01044163900318312	0.01005	0.206097687803	0.23033	0.346213757992	0.17363	T	0.043313	0.26462	T	-0.268015	0.11979	T	-0.539896	0.18306	T	0.715585291385651	0.41476	D	.	.	.	0.11701718	0.27593	0.13169685	0.31619	0.11701718	0.27593	0.13169685	0.31619	-8.153	0.62108	D	.	.	0.147	0.37005	B	.;.;.	.;.;.	2.548186	0.32975	19.20	0.99494304994160321	0.67630	0.00626	0.02758	N	AEFDGBCI	0.148654	0.27258	N	-0.450745307934087	0.23714	1.275441	-0.553404586287914	0.20716	1.117371	0.740502284768092	0.23204	0.615465	0.37627	0	0.53679	0.11191	0	0.575934	0.27490	0	0.655142	0.61905	0	.	.	2.42	2.42	0.28720	1.712000	0.37560	.	.	0.497000	0.22564	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.0:0.0:0.0:1.0	8.08	0.29901	784	0.47045	Zinc finger C2H2-type;Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2679.43	178	chr19	40034701	.	T	C	2679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.05;ReadPosRankSum=-0.038;SOR=0.734	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1174	9	0	1	0
chr19	40380589	40380589	C	T	exonic	HIPK4	.	nonsynonymous SNV	HIPK4:NM_144685:exon3:c.G1402A:p.D468N	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00319489	0.0015	9.724e-05	8.655e-05	0	0	0	0	0.0105	0.0012484	193	154602	rs541882458	0.0005	0.0005	0.0003	0.0007	0.0078	0.0005	0.0004	0.0073	0.0071	2.987e-05	0.0002	0	2.519e-05	0	0.0002	4.497e-06	0.0004	0.0078	0.0002	0.0002	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	0.0002	0	0.0002	0	0	0	0	1.47e-05	0	0.0054	0.099	0.30656	T	0.558	0.09175	T	0.001	0.07471	B	0.001	0.04355	B	0.013707	0.28756	N	0.243373	0.999413	0.21230	N	0.345	0.11182	N	-0.16	0.65378	T	-0.41	0.14000	N	0.203	0.22486	-0.9320	0.43844	T	0.130	0.44009	T	10	0.005753994	0.00128	T	.	.	.	0.059	0.16972	.	.	0.776910363928	0.77485	0.16769956769693192	0.16689	0.315794426157	0.33856	0.426644384861	0.28750	T	0.005508	0.04962	T	-0.581452	0.00189	T	-0.601169	0.12714	T	0.023439875047356	0.01076	T	0.676232	0.28483	T	0.035019863	0.04044	0.031988587	0.01867	0.035019863	0.04044	0.031988587	0.01867	-4.454	0.30283	T	.	.	0.074	0.05103	B	.	.	0.987706	0.13652	10.19	0.99182591871840386	0.54730	0.25623	0.22754	N	AEFBCI	.	.	.	-0.665538206149021	0.17009	0.8716475	-0.612938999266589	0.19160	1.026805	2.86557649046093E-4	0.06355	0.514905	0.20481	0	0.514364	0.08380	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.18	3.15	0.35301	1.173000	0.31529	.	.	-0.190000	0.09434	0.038000	0.20882	0.076000	0.22303	0.001000	0.02609	0.0:0.8964:0.0:0.1036	9.292	0.36954	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	824.43	33	chr19	40380589	.	C	T	824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.92;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.336;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	9	0	1	0
chr19	40534293	40534293	G	C	exonic	SPTBN4	.	nonsynonymous SNV	SPTBN4:NM_025213:exon3:c.G337C:p.D113H,SPTBN4:NM_020971:exon20:c.G4309C:p.D1437H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.014924753043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.016	0.66756	D	0.999	0.77913	D	0.947	0.68407	D	0.003244	0.35212	N	0.179093	0.999984	0.54805	D	2.445	0.70938	M	0.43	0.56772	T	-4.85	0.82896	D	0.353	0.39861	-0.4130	0.71614	T	0.322	0.69099	T	10	0.43295938	0.57610	T	0.014925	0.35361	T	0.335	0.65718	0.652	0.78963	0.756102065754	0.75388	0.504818884318711	0.50403	.	.	0.697182059288	0.66737	T	0.286867	0.86581	T	0.0664873	0.60418	T	-0.142272	0.59921	T	0.992745578289032	0.83306	D	0.918808	0.83363	D	0.38694748	0.59814	0.42492506	0.66317	0.38694748	0.59815	0.42492506	0.66317	-9.537	0.71089	D	.	.	0.191	0.51209	B	.;.;.;.;.;.	.;.;.;.;.;.	5.240157	0.87974	29.4	0.99450564320435075	0.65274	0.99323	0.94492	D	AEFDGBI	0.946320	0.95564	D	0.792783816344261	0.85651	8.640394	0.787598624844167	0.88919	9.766446	0.999999989130681	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.03	5.03	0.67015	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	17.316	0.87111	735	0.53711	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	965.43	82	chr19	40534293	.	G	C	965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.573;DP=416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.633;SOR=0.633	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,120,1800	9	0	1	0
chr19	40617195	40617195	G	A	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon21:c.G3040A:p.E1014K,LTBP4:NM_001042544:exon24:c.G3241A:p.E1081K,LTBP4:NM_003573:exon24:c.G3130A:p.E1044K	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	1257542	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.596	.	.	0.00698882	0.0026	0.0001	0.0002	0.0001	0	0	0.0012	0.0186	0.0021992	340	154602	rs541226628	0.0011	0.0011	0.0006	0.0016	0.0177	0.0011	0.0010	0.0170	0.0167	0.0001	2.237e-05	0	7.557e-05	0	0.0003	1.079e-05	0.0012	0.0177	0.0007	0.0007	0.0004	0.0010	0.0215	0.0006	0.0006	0.0182	0.0169	7.213e-05	0	0	0	0.0002	0	0	0	0	0.0215	.	.	.	0.107	0.45961	T	1.0	0.90584	D	0.998	0.88582	D	0.001087	0.40303	N	0.000000	0.980339	0.81001	D	.	.	.	.	.	.	.	.	.	0.74	0.77978	0.699	0.93166	D	0.840	0.94663	D	9	0.011909097	0.00258	T	.	.	.	0.596	0.83965	0.583	0.70990	0.707571196339	0.70502	0.5703692011585406	0.56964	0.895510846688	0.70446	0.666666150093	0.62363	T	0.129047	0.76787	T	0.0537309	0.58821	T	0.31803	0.89008	D	0.0771758010593924	0.09621	T	0.753825	0.46176	T	0.21313031	0.43683	0.24123685	0.49516	0.19511667	0.41288	0.23232652	0.48389	-11.845	0.84087	D	.	.	0.648	0.70840	P	.;.;.	.;.;.	5.269281	0.88479	29.6	0.99916336103374936	0.98449	0.95866	0.66491	D	AEFBI	0.687413	0.64876	D	0.933598305929685	0.93304	11.95268	0.757843225491464	0.86742	8.987668	0.999999695775457	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.19	4.19	0.48645	3.198000	0.50738	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.810	0.78327	749	0.51929	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.1	2648.14	33	chr19	40617195	.	G	A	2648.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.931;DP=474;ExcessHet=0.2348;FS=0.59;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=2.06;SOR=0.619	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1130,0,1033	8	0	2	0
chr19	40744680	40744680	G	A	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353805:exon4:c.C4T:p.R2W	.	420	1058	41	3	0	47	0.0217291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0037	0.00738818	0.0084	0.0005	0.0028	0.0001	0.0028	0.0053	0.0074	0.0413	0.0071603	1107	154602	rs73047039	0.0057	0.0057	0.0046	0.0067	0.0342	0.0056	0.0055	0.0332	0.0328	0.0005	0.0019	0.0123	5.043e-05	0.0021	0.0157	0.0039	0.0061	0.0342	0.0038	0.0038	0.0036	0.0039	0.0325	0.0035	0.0034	0.0284	0.0268	0.0007	0	0.0020	0.0121	0.0002	0.0029	0.0204	0.0040	0.0033	0.0325	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.32	0.36043	-0.9902	0.32551	T	0.090	0.34573	T	7	0.004359305	0.00089	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.685291	0.00045	T	-0.731387	0.04265	T	0.0130569372381809	0.00228	T	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29697	B	.	.	0.138148	0.05325	1.814	0.994728603804239	0.66419	0.01489	0.04946	N	ALL	0.047537	0.08015	N	-1.28611122526482	0.03842	0.1723511	-1.39020398705293	0.03355	0.1563541	0.999999999997689	0.74766	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	5.56	-9.34	0.00539	-1.494000	0.02401	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.8088:0.0:0.1912:0.0	19.119	0.93338	493	0.76500	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019737	0.015152	0.013587	0.017857	0.000000	0.008621	0.009202	0.049242	0.05	295.43	34	chr19	40744680	.	G	A	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=354;ExcessHet=0;FS=2.687;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=1.83;SOR=1.074	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,980	9	0	1	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A,C19orf54:NM_001353809:exon1:c.A4G:p.T2A,C19orf54:NM_198476:exon1:c.A4G:p.T2A	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018223	0.000000	0.023529	0.004167	0.125000	0.088235	0.017647	0.032609	0.1	2884.12	78	chr19	40749800	.	T	C	2884.12	.	AC=2;AF=0.1;AN=20;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.36;SOR=0.999	GT:AD:DP:GQ:PL	0/0:78,0:78:99:0,120,1800	9	1	0	0
chr19	40800650	40800650	G	C	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G78C:p.E26D,EGLN2:NM_080732:exon2:c.G78C:p.E26D	.	417	1085	20	0	0	20	0.00913242	.	.	.	741905	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0006	0.00399361	0.0028	9.917e-05	0.0004	0.0001	0.0002	0.0008	0.0047	0.0163	0.0024515	379	154602	rs73047080	0.0014	0.0014	0.0010	0.0019	0.0152	0.0014	0.0014	0.0145	0.0142	0.0001	0.0002	0.0043	0	7.512e-05	0.0069	0.0005	0.0017	0.0152	0.0009	0.0009	0.0009	0.0009	0.0147	0.0008	0.0007	0.0120	0.0110	0.0001	0	0.0003	0.0020	0	0	0.0136	0.0006	0.0014	0.0147	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005365	0.32858	N	0.200262	0.990905	0.24109	N	0.55	0.14455	N	1.94	0.22678	T	-0.13	0.08971	N	0.129	0.12341	-1.0206	0.23519	T	0.026	0.11264	T	7	0.003999889	0.00077	T	.	.	.	0.025	0.05312	0.117	0.02508	0.456647468687	0.45291	0.11087046075374986	0.11016	0.508924225675	0.49035	0.592218577862	0.51808	T	0.261926	0.63345	T	-0.550966	0.00288	T	-0.551227	0.17209	T	0.0171338292415777	0.00458	T	0.469553	0.13966	T	0.10713312	0.25332	0.10244342	0.24554	0.10713312	0.25331	0.10244342	0.24554	-4.025	0.24177	T	.	.	0.116	0.26762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.216571	0.28284	17.75	0.97879448873417629	0.36594	0.20637	0.21114	N	AEFDBCI	0.101483	0.20381	N	-0.605174886077519	0.18788	0.97824	-0.699690217910423	0.16968	0.9001154	0.999998765061	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	.	.	0.171000	0.17763	0.368000	0.25908	0.999000	0.35428	0.907000	0.44265	.	.	.	507	0.75469	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	920.43	33	chr19	40800650	.	G	C	920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.364;DP=366;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-1.233;SOR=0.509	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1079	9	0	1	0
chr19	40843869	40843869	A	G	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon9:c.T1412C:p.I471T	Coumarin resistance, Autosomal dominant	1	1502	19	0	0	19	0.00628515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	.	0.0006	.	0.0111	0.0006	0.0026	0.1291	0.0005	0.0024	0.0111	0.0030	0.0004463	69	154602	rs5031016	0.0055	0.0066	0.0055	0.0055	0.1362	0.0054	0.0053	0.1331	0.1318	0.0005	0.0017	0.0117	0.1362	0.0004	0.0068	0.0015	0.0081	0.0028	0.0060	0.0069	0.0058	0.0063	0.1272	0.0057	0.0056	0.1189	0.1156	0.0006	0.0022	0.0018	0.0142	0.1272	0.0003	0.0136	0.0020	0.0081	0.0074	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.014717	0.28452	U	0.279854	1	0.08975	N	.	.	.	-0.4	0.69287	T	-3.99	0.73893	D	0.274	0.31027	-1.0839	0.06609	T	0.018	0.07518	T	10	0.0038813949	0.00074	T	.	.	.	0.253	0.56294	.	.	.	.	0.3881246117773247	0.38727	4.01563215202	0.99884	0.478828430176	0.35896	T	.	.	.	-0.27782	0.10900	T	-0.177703	0.56734	T	0.0609264555018425	0.07313	T	0.731327	0.34690	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.37216	B	.	.	4.071743	0.60497	24.2	0.99457983801950189	0.65633	0.84569	0.43652	D	AEFDGBHCI	0.414533	0.48376	N	0.210907081393665	0.51727	3.35171	0.0525245960247107	0.42194	2.547905	0.997483884696846	0.35668	0.608966	0.35542	0	0.606814	0.50340	0	0.769059	0.98459	0	0.530356	0.10902	0	.	.	2.87	2.87	0.32523	4.840000	0.62513	.	.	0.496000	0.22519	0.278000	0.25122	0.024000	0.20971	0.171000	0.21011	1.0:0.0:0.0:0.0	10.215	0.42339	518	0.74548	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007058	0.000000	0.005450	0.012712	0.000000	0.008621	0.013072	0.000000	0.05	656.43	59	chr19	40843869	.	A	G	656.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=672;ExcessHet=0;FS=2.649;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.53;MQRankSum=-2.896;QD=2.36;ReadPosRankSum=-0.48;SOR=0.919	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,114,1710	9	0	1	0
chr19	40848304	40848304	C	A	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon4:c.G569T:p.R190L	Coumarin resistance, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	757037	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.312	0.0133573829576	.	0.00119808	0.0011	9.614e-05	0.0002	0	0	0	0	0.0081	0.000925	143	154602	rs571335587	0.0005	0.0005	0.0003	0.0007	0.0077	0.0004	0.0004	0.0072	0.0070	0	2.236e-05	0	0.0002	0	0.0005	0	0.0003	0.0077	0.0002	0.0003	9.029e-05	0.0004	0.0075	0.0002	0.0002	0.0056	0.0049	0	0	0	0	0	0	0.0034	0	0	0.0075	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.000019	0.62929	U	0.076273	0.97056	0.38807	D	.	.	.	4.87	0.01449	T	-6.0	0.89534	D	0.833	0.82862	-1.0574	0.12414	T	0.019	0.07753	T	10	0.067304075	0.09357	T	0.013357	0.32703	T	0.312	0.63375	0.902	0.97858	0.461845970543	0.45810	0.5540309291374791	0.55330	0.145491712787	0.16441	0.683118224144	0.64716	T	.	.	.	-0.238855	0.15494	T	-0.111169	0.62518	T	0.280504385249554	0.24193	T	0.982102	0.93912	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.789	0.76764	P	.	.	5.178715	0.86829	29.0	0.99754944722346384	0.84537	0.97533	0.75370	D	AEFBI	0.803802	0.72884	D	0.382337450239645	0.60465	4.235684	0.238952943873192	0.52023	3.380125	0.999985846913211	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.69	2.69	0.30923	5.586000	0.67198	.	.	0.350000	0.19923	1.000000	0.71638	0.984000	0.30665	0.221000	0.22489	0.0:1.0:0.0:0.0	12.588	0.55779	525	0.74024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	2290.43	33	chr19	40848304	.	C	A	2290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=529;ExcessHet=0;FS=2.501;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=1.29;QD=11.63;ReadPosRankSum=0.163;SOR=0.886	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1317	9	0	1	0
chr19	40875766	40875766	A	G	exonic	CYP2A7	.	nonsynonymous SNV	CYP2A7:NM_030589:exon8:c.T1259C:p.I420T,CYP2A7:NM_000764:exon9:c.T1412C:p.I471T	.	3	1508	11	0	0	11	0.00363396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	.	.	0.0189696	0.0098	0.0006	0.0024	0.1093	0.0003	0.0021	0.0103	0.0032	0.0008344	129	154602	rs200525410	0.0025	0.0059	0.0025	0.0024	0.0642	0.0024	0.0024	0.0619	0.0610	0.0003	0.0008	0.0053	0.0642	0.0002	0.0030	0.0008	0.0035	0.0011	0.0032	0.0061	0.0030	0.0033	0.0698	0.0030	0.0029	0.0635	0.0610	0.0004	0.0011	0.0009	0.0085	0.0698	0.0003	0.0069	0.0012	0.0024	0.0030	0.001	0.91255	D	0.001	0.83351	D	0.997	0.70673	D	0.98	0.74843	D	0.014717	0.28452	U	0.279854	1	0.08975	N	2.675	0.78361	M	-0.4	0.69287	T	-3.79	0.74269	D	0.329	0.42541	-1.1489	0.01058	T	0.009	0.03403	T	10	0.0042277277	0.00084	T	.	.	.	0.257	0.56827	.	.	0.776745378001	0.77469	0.6012149412529046	0.60052	3.4135721607	0.99707	0.499792814255	0.38799	T	0.021666	0.16835	T	-0.0207267	0.48749	T	-0.267549	0.48067	T	0.0656934016344075	0.08033	T	0.759324	0.41649	T	0.48969555	0.66485	0.6075213	0.77178	0.48969555	0.66486	0.6075213	0.77179	-8.27	0.62895	D	.	.	0.181	0.39305	B	.;.	.;.	4.594287	0.72701	25.9	0.98915877059138224	0.48454	0.84261	0.43343	D	AEFDGBCI	0.436522	0.49671	N	0.0817997945026348	0.45613	2.815041	-0.128856776648593	0.34232	1.966824	0.999933536041714	0.46732	0.580535	0.33130	0	0.491552	0.07993	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	2.18	2.18	0.26813	6.624000	0.74108	.	.	0.382000	0.20414	0.785000	0.29533	0.000000	0.08366	0.304000	0.24594	1.0:0.0:0.0:0.0	9.085	0.35738	563	0.71062	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007198	0.000000	0.004110	0.012712	0.000000	0.008621	0.013245	0.003937	0.05	723.43	72	chr19	40875766	.	A	G	723.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.117;DP=649;ExcessHet=0;FS=8.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.04;MQRankSum=1.11;QD=5.24;ReadPosRankSum=0.079;SOR=1.574	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,105,1575	9	0	1	0
chr19	41088481	41088481	T	G	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon1:c.T10G:p.S4A	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00934251760206	.	.	1.686e-05	0	0	0	0	3.04e-05	0	0	1.29e-05	2	154602	rs749106936	1.163e-05	1.163e-05	9.533e-06	1.376e-05	0.0002	7.09e-06	5.79e-06	7.31e-06	5.72e-06	0	0	0	0	0	0.0002	1.259e-05	3.313e-05	0	1.313e-05	1.312e-05	0	2.685e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0	0.495	0.07870	T	0.423	0.13993	T	0.431	0.35606	B	0.071	0.27960	B	0.278728	0.14986	U	0.555882	0.999958	0.19072	N	2.095	0.58118	M	-0.35	0.68616	T	-0.59	0.17624	N	0.241	0.27197	-0.9877	0.33175	T	0.144	0.46714	T	10	0.15571707	0.29343	T	0.009343	0.24506	T	0.072	0.21020	0.327	0.31034	0.689064770846	0.68639	0.45085306463217445	0.45003	0.0842505692678	0.09510	0.588306367397	0.51256	T	0.020545	0.16160	T	-0.185437	0.22930	T	-0.440498	0.28752	T	0.114265814423561	0.13860	T	0.433957	0.11861	T	0.07853695	0.17891	0.055832453	0.09868	0.07853695	0.17891	0.055832453	0.09867	-3.414	0.15245	T	.	.	0.069	0.03162	B	.	.	2.633994	0.34254	19.58	0.9672076781186123	0.30847	0.30910	0.24203	N	AEFGBI	0.054027	0.09787	N	-0.381124370542439	0.26142	1.424471	-0.31414143063272	0.27640	1.535246	2.36197179150067E-4	0.06095	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.3	3.3	0.36912	0.261000	0.18211	2.023000	0.30218	0.622000	0.51765	0.307000	0.25387	0.897000	0.27914	0.848000	0.40082	0.0:0.0:0.242:0.758	6.734	0.22587	730	0.54327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000541	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	690.43	33	chr19	41088481	.	T	G	690.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.715;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0.824;QD=7.94;ReadPosRankSum=0.87;SOR=0.704	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1172	9	0	1	0
chr19	41414125	41414125	C	T	exonic	BCKDHA	.	nonsynonymous SNV	BCKDHA:NM_000709:exon4:c.C452T:p.T151M,BCKDHA:NM_001164783:exon4:c.C452T:p.T151M	Maple syrup urine disease, type Ia, Autosomal recessive	1	1439	78	4	0	86	0.0290148	.	.	YES	99268	Maple_syrup_urine_disease|not_specified|Maple_syrup_urine_disease_type_1A|not_provided	MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511|MedGen:CN169374|MONDO:MONDO:0023691,MedGen:C1855369,OMIM:248600|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	.	0.0075	0.00419329	0.0108	0.0018	0.0035	0.0001	0.0296	0.0145	0.0113	0.0050	0.0100775	1558	154602	rs34442879	0.0090	0.0090	0.0090	0.0089	0.0468	0.0088	0.0088	0.0422	0.0404	0.0019	0.0044	0.0054	2.519e-05	0.0251	0.0468	0.0090	0.0093	0.0054	0.0079	0.0079	0.0071	0.0087	0.0103	0.0075	0.0073	0.0097	0.0094	0.0015	0	0.0051	0.0040	0.0004	0.0261	0.0612	0.0103	0.0123	0.0041	0.02	0.56456	D	0.044	0.49663	D	0.963	0.55692	D	0.622	0.51475	P	0.000089	0.51296	D	0.167160	0.927282	0.39958	D	1.845	0.48678	L	-3.88	0.95953	D	-1.21	0.31375	N	0.185	0.34012	0.800	0.94407	D	0.837	0.94546	D	10	0.017781347	0.00382	T	.	.	.	0.434	0.73951	.	.	.	.	0.7002436206164835	0.69965	1.23621605308	0.85030	0.532821595669	0.43432	T	0.534257	0.83937	D	-0.208204	0.19633	T	-0.0608155	0.66276	T	0.0228603141182863	0.01008	T	0.928207	0.73493	D	0.15023611	0.34212	0.08159312	0.18555	0.15023611	0.34212	0.08159312	0.18554	-5.983	0.49852	T	0.289193797445513	0.38554	0.089	0.31532	B	.;.;.;.	.;.;.;.	3.389103	0.46917	22.4	0.99873433679432777	0.95076	0.68246	0.33730	D	AEFBI	0.639883	0.61778	D	0.332885079307658	0.57843	3.953436	0.299358951351295	0.55501	3.713204	0.987086427242392	0.31181	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	1.309000	0.33145	3.999000	0.41057	0.599000	0.40250	0.226000	0.24601	0.994000	0.32194	0.989000	0.64315	0.0:1.0:0.0:0.0	16.831	0.85808	856	0.34373	.;Dehydrogenase, E1 component;Dehydrogenase, E1 component;.	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19	Adipose_Subcutaneous|Nerve_Tibial|Ovary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|PCAT19|LTBP4|LTBP4	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Esophagus_Mucosa|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen|Spleen	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.035282	0.020202	0.040761	0.093567	0.050000	0.017241	0.015244	0.007576	0.05	941.43	39	chr19	41414125	.	C	T	941.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.031;DP=390;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.52;ReadPosRankSum=0.73;SOR=0.969	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1198	9	0	1	0
chr19	41425979	41425979	G	A	exonic	B3GNT8	.	nonsynonymous SNV	B3GNT8:NM_001385648:exon2:c.C800T:p.S267L,B3GNT8:NM_198540:exon3:c.C800T:p.S267L	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00665605262985	.	0.000199681	6.754e-05	0	0	0.0001	0	3.098e-05	0	0.0003	5.82e-05	9	154602	rs527781792	4.589e-05	4.583e-05	3.679e-05	5.509e-05	0.0004	3.666e-05	3.351e-05	0.0003	0.0002	0	0	0	2.521e-05	0	0	2.88e-05	3.314e-05	0.0004	3.283e-05	3.281e-05	1.285e-05	5.372e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0004	0.168	0.23007	T	0.32	0.19131	T	0.059	0.23051	B	0.017	0.18140	B	0.850900	0.08963	N	0.926171	1	0.08975	N	0.385	0.12166	N	0.95	0.43279	T	-1.42	0.34992	N	0.164	0.17278	-1.0575	0.12388	T	0.061	0.25492	T	10	0.042707026	0.03045	T	0.006656	0.17557	T	0.077	0.22490	0.57	0.69299	0.0716867268079	0.06686	0.49738839216920594	0.49659	0.13049011374	0.14724	0.405054330826	0.25771	T	0.014462	0.12310	T	-0.496482	0.00598	T	-0.64042	0.09638	T	0.0246302100548231	0.01225	T	0.735426	0.35200	T	0.058417954	0.11750	0.117888354	0.28459	0.058417954	0.11750	0.117888354	0.28458	-3.234	0.12901	T	.	.	0.091	0.12938	B	.	.	0.558091	0.09265	6.048	0.7832413728191836	0.12251	0.20201	0.20952	N	AEFDBCI	0.233090	0.35607	N	-1.50130839407769	0.01842	0.08075155	-1.55938935250207	0.01912	0.08721308	0.999996918760477	0.74766	0.489673	0.17934	0	0.379588	0.06130	0	0.536957	0.11973	0	0.662433	0.64102	0	.	.	4.09	-5.15	0.02648	0.077000	0.14593	-0.367000	0.09633	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2996:0.7004:0.0	19.166	0.93545	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1886.43	117	chr19	41425979	.	G	A	1886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=452;ExcessHet=0;FS=3.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=-0.239;SOR=1	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1211	9	0	1	0
chr19	41426222	41426222	G	A	exonic	B3GNT8	.	nonsynonymous SNV	B3GNT8:NM_001385648:exon2:c.C557T:p.S186F,B3GNT8:NM_198540:exon3:c.C557T:p.S186F	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278	0.0340720550959	0.0023	0.00159744	0.0027	0.0007	0.0054	0	0.0002	0.0031	0.0033	0.0026	0.002639	408	154602	rs137913069	0.0023	0.0023	0.0022	0.0024	0.0109	0.0023	0.0022	0.0088	0.0080	0.0007	0.0043	0.0038	0	0.0002	0.0109	0.0024	0.0025	0.0028	0.0022	0.0022	0.0023	0.0020	0.0060	0.0020	0.0019	0.0050	0.0047	0.0006	0	0.0060	0.0046	0	0.0002	0.0034	0.0027	0.0009	0.0017	0.008	0.58626	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.741107	0.09776	N	0.889305	0.967866	0.38622	D	1.5	0.37844	L	0.93	0.44065	T	-3.41	0.67129	D	0.217	0.24260	-0.7002	0.60429	T	0.208	0.56730	T	10	0.011784792	0.00256	T	0.034072	0.55422	D	0.278	0.59497	.	.	0.46289702323	0.45912	0.6850469811234646	0.68443	0.653243935436	0.58470	0.565470933914	0.48039	T	0.066533	0.32970	T	-0.391998	0.02611	T	-0.335999	0.40797	T	0.0129328424757217	0.00223	T	0.736326	0.35288	T	0.21279617	0.43641	0.24291565	0.49723	0.21279617	0.43641	0.24291565	0.49722	-7.499	0.57603	T	.	.	0.33	0.55222	B	.	.	4.518750	0.70831	25.6	0.99798363596175832	0.88372	0.85241	0.44356	D	AEFDBCI	0.663140	0.63276	D	0.564019505575301	0.70939	5.575905	0.48267809687269	0.66843	5.005076	0.999999992232519	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.662433	0.64102	0	.	.	4.21	4.21	0.48984	3.264000	0.51256	11.877000	0.98731	0.676000	0.76740	0.812000	0.29879	1.000000	0.68203	0.848000	0.40082	0.0:0.0:1.0:0.0	13.929	0.63487	856	0.34373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.012228	0.020468	0.100000	0.017241	0.012195	0.000000	0.05	3224.43	106	chr19	41426222	.	G	A	3224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.567;DP=868;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.42;ReadPosRankSum=0.551;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,99,1211:.	9	0	1	0
chr19	41439476	41439476	T	C	exonic	DMAC2	.	nonsynonymous SNV	DMAC2:NM_001167867:exon1:c.A34G:p.N12D,DMAC2:NM_001167868:exon1:c.A34G:p.N12D,DMAC2:NM_001320839:exon1:c.A34G:p.N12D,DMAC2:NM_001320840:exon1:c.A34G:p.N12D,DMAC2:NM_001320841:exon1:c.A34G:p.N12D	.	411	1100	10	1	0	12	0.00542495	0.0004	0.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00110049937574	0.0020	0.00119808	0.0026	0.0006	0.0098	0	0	0.0039	0	0.0019	0.0006792	105	154602	rs201128960	0.0027	0.0026	0.0026	0.0027	0.0088	0.0026	0.0026	0.0068	0.0062	0.0006	0.0028	0.0061	5.598e-05	0.0004	0.0088	0.0028	0.0035	0.0025	0.0021	0.0021	0.0022	0.0019	0.0031	0.0019	0.0018	0.0028	0.0026	0.0004	0	0.0026	0.0075	0	0	0.0136	0.0031	0.0038	0.0029	0.094	0.31383	T	0.255	0.23365	T	0.038	0.21002	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	0.26	0.12099	N	0.102	0.09914	-1.0237	0.22508	T	0.021	0.08824	T	9	0.0041080415	0.00081	T	0.001	0.01312	T	0.015	0.02232	.	.	0.104622674875	0.10061	0.21388719038479934	0.21304	0.19170983959	0.21502	0.315076291561	0.12675	T	.	.	.	-0.618595	0.00112	T	-0.656218	0.08524	T	0.0133141045603256	0.00239	T	0.389061	0.10685	T	.	.	.	.	.	.	.	.	-2.981	0.27910	T	.	.	0.138	0.30157	B	.;.;.	.;.;.	0.274733	0.06519	3.003	0.96524717080362576	0.30129	0.01968	0.05963	N	AEFGBHCIJ	0.064140	0.12438	N	-1.47661935674408	0.02016	0.08858215	-1.58487868797724	0.01748	0.07948693	0.999999981194011	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.249971	0.05119	0	.	.	2.39	-4.78	0.02975	-0.503000	0.06464	-1.111000	0.06297	0.543000	0.25316	0.000000	0.06391	0.000000	0.08366	0.043000	0.14563	0.2913:0.1899:0.3133:0.2055	0.396	0.00389	862	0.33134	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012788	0.029412	0.019231	0.005882	0.000000	0.000000	0.000000	0.012195	0.05	1677.43	38	chr19	41439476	.	T	C	1677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.26;DP=451;ExcessHet=0;FS=0.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.771;SOR=0.797	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1075	9	0	1	0
chr19	41584430	41584430	C	T	exonic	CEACAM21	.	stopgain	CEACAM21:NM_001098506:exon4:c.C784T:p.R262X,CEACAM21:NM_001290113:exon4:c.C397T:p.R133X,CEACAM21:NM_033543:exon4:c.C781T:p.R261X,CEACAM21:NM_001288773:exon5:c.C400T:p.R134X	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	8.389e-05	0.0002	0	0	0	2.548e-05	0	0.0004	5.17e-05	8	154602	rs568421412	6.465e-05	6.635e-05	4.921e-05	8.028e-05	0.0006	5.39e-05	5.003e-05	0.0004	0.0004	5.999e-05	0	0	0.0002	0	0	3.069e-05	1.663e-05	0.0006	9.198e-05	9.187e-05	7.713e-05	0.0001	0.0008	5.527e-05	4.364e-05	0.0003	0.0002	0.0001	0	6.54e-05	0	0	0	0	4.411e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999986	0.54805	A	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0587832	0.59460	T	0.174622	0.81684	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant	.;.;High	4.648874	0.74080	26.1	0.93670412390119573	0.23566	0.00125	0.00780	N	AEFBI	0.027050	0.02141	N	-0.264749021892834	0.30519	1.702471	-0.682383687831159	0.17402	0.9251175	9.27357188301096E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	1.16	-0.0482	0.13169	-0.126000	0.10539	-1.639000	0.05008	-3.106000	0.00123	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6024:0.3976:0.0:0.0	3.906	0.08685	839	0.37672	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1927.14	35	chr19	41584430	.	C	T	1927.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=500;ExcessHet=0.2348;FS=0.54;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.702;SOR=0.747	GT:AD:DP:GQ:PL	0/1:63,47:110:99:1115,0,1390	8	0	2	0
chr19	41625900	41625900	G	A	exonic	CEACAM4	.	nonsynonymous SNV	CEACAM4:NM_001362492:exon2:c.C125T:p.P42L,CEACAM4:NM_001362495:exon2:c.C125T:p.P42L,CEACAM4:NM_001817:exon2:c.C125T:p.P42L	.	215	1291	16	0	0	16	0.00615858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0039856705986	0.0012	0.00119808	0.0018	0.0002	0.0003	0	0	0.0015	0.0033	0.0069	0.0016559	256	154602	rs148045742	0.0015	0.0015	0.0013	0.0017	0.0082	0.0014	0.0014	0.0066	0.0064	0.0001	0.0004	0.0003	5.038e-05	0.0002	0.0082	0.0012	0.0015	0.0071	0.0010	0.0010	0.0011	0.0010	0.0056	0.0009	0.0008	0.0040	0.0034	0.0002	0	0.0005	0	0	0	0	0.0016	0.0014	0.0056	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.08975	N	2.71	0.79292	M	-0.24	0.66834	T	-8.87	0.97888	D	0.206	0.22870	-0.4897	0.69019	T	0.544	0.83208	D	9	0.00583449	0.00130	T	0.003986	0.09431	T	0.113	0.31778	.	.	0.651368938621	0.64847	0.15995245192304647	0.15916	0.202668687371	0.22686	0.285314321518	0.08243	T	0.231281	0.59757	T	-0.393684	0.02546	T	-0.335942	0.40805	T	0.119876057199896	0.14417	T	.	.	.	0.12219163	0.28720	0.12415128	0.29929	0.12219163	0.28719	0.12415128	0.29928	-8.312	0.63176	D	.	.	0.468	0.67221	A	.;.	.;.	1.468730	0.18922	14.00	0.9919974733455057	0.55231	0.01485	0.04937	N	AEFDBI	0.030968	0.03219	N	-0.0433440237286437	0.39899	2.360587	-0.38461111959841	0.25455	1.399978	0.99988676870225	0.44867	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.76	1.76	0.23776	0.651000	0.24559	0.029000	0.13704	0.478000	0.22058	0.019000	0.19563	0.000000	0.08366	0.003000	0.05239	0.0:0.0:1.0:0.0	6.954	0.23738	840	0.37365	Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004541	0.000000	0.000000	0.011834	0.000000	0.008621	0.009146	0.003788	0.05	986.43	43	chr19	41625900	.	G	A	986.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=475;ExcessHet=0;FS=2.875;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-2.604;SOR=1.061	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	9	0	1	0
chr19	41715163	41715163	C	T	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon3:c.C617T:p.T206I,CEACAM5:NM_001308398:exon3:c.C617T:p.T206I,CEACAM5:NM_004363:exon3:c.C617T:p.T206I	.	7	1513	2	0	0	2	0.000660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00119498654094	.	.	4.942e-05	0	0	0	0	5.993e-05	0	0.0001	4.53e-05	7	154602	rs782198510	5.472e-05	5.472e-05	5.717e-05	5.225e-05	0.0012	4.476e-05	4.147e-05	0.0006	0.0004	2.987e-05	8.944e-05	0	0.0001	0	0.0012	4.406e-05	0.0001	9.275e-05	4.596e-05	4.593e-05	6.424e-05	2.685e-05	5.88e-05	2.108e-05	1.526e-05	1.972e-05	1.124e-05	2.407e-05	0	0	0	0	0	0.0034	5.88e-05	0.0005	0	0.006	0.61437	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.79	0.03809	T	-4.52	0.78302	D	0.376	0.43417	-1.0862	0.06191	T	0.058	0.24354	T	9	0.3596049	0.52625	T	0.001195	0.01533	T	0.021	0.04004	.	.	0.388970301349	0.38507	0.262803268130882	0.26193	0.801649802431	0.66281	0.387098252773	0.23260	T	0.102539	0.41036	T	-0.401326	0.02270	T	-0.577585	0.14760	T	0.140527382493019	0.16321	T	0.59464	0.22023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.46700	B	.;.;.;.	.;.;.;.	1.325098	0.17300	13.08	0.96606472345298833	0.30427	0.01019	0.03833	N	AEFDBI	0.045837	0.07542	N	-0.556884873533913	0.20269	1.067243	-0.798221193485567	0.14539	0.7601626	1.22992125199492E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.94	0.549	0.16403	0.575000	0.23431	-2.299000	0.03932	0.444000	0.21144	0.040000	0.20979	0.000000	0.08366	0.003000	0.05239	0.0:0.6319:0.2262:0.1419	4.563	0.11567	840	0.37365	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	4096.43	33	chr19	41715163	.	C	T	4096.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.169;DP=622;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.508;SOR=0.717	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	41718368	41718368	C	A	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon6:c.C1478A:p.T493K,CEACAM5:NM_001308398:exon6:c.C1475A:p.T492K,CEACAM5:NM_004363:exon6:c.C1478A:p.T493K	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.000920496056268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.806	0.03068	T	0.154	0.32040	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.68	0.12371	T	-1.2	0.30555	N	0.178	0.19190	-1.0777	0.07801	T	0.041	0.17785	T	9	0.07884061	0.12613	T	9.2E-4	0.00889	T	0.036	0.09122	0.397	0.42426	0.202086224978	0.19791	0.19471143802567653	0.19389	0.438197802347	0.43858	0.307134151459	0.11474	T	0.029513	0.30451	T	-0.346061	0.04979	T	-0.734869	0.04110	T	0.116694410426311	0.14103	T	0.225177	0.05508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.22609	B	.;.;.;.;.	.;.;.;.;.	-0.850757	0.01011	0.042	0.32377863381708927	0.01873	0.00204	0.01168	N	AEFBI	0.031960	0.03520	N	-1.2277872459574	0.04601	0.2079845	-1.47214771546951	0.02575	0.1186755	3.12280794266525E-4	0.06498	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.39	-4.78	0.02975	-0.910000	0.04163	-20.000000	0.00162	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4716:0.2545:0.0:0.2739	2.905	0.05368	830	0.39242	.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1756.43	38	chr19	41718368	.	C	A	1756.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.037;DP=466;ExcessHet=0;FS=1.371;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.827;SOR=0.561	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1323	9	0	1	0
chr19	41838976	41838976	G	A	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_173506:exon3:c.C116T:p.A39V	.	431	1070	20	1	0	22	0.0101758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	7.7e-05	0.00419329	0.0045	0.0002	0.0002	0.0003	0	0.0002	0.0011	0.0321	0.0038292	592	154602	rs202011969	0.0020	0.0020	0.0012	0.0029	0.0306	0.0020	0.0020	0.0296	0.0292	5.974e-05	0.0001	0	7.557e-05	1.876e-05	0.0052	0.0002	0.0023	0.0306	0.0012	0.0012	0.0006	0.0018	0.0328	0.0010	0.0010	0.0286	0.0270	7.236e-05	0	6.549e-05	0	0.0004	0	0.0102	0.0001	0.0019	0.0328	.	.	.	0.0	0.92824	D	0.884	0.48618	P	0.268	0.39801	B	0.011196	0.29626	N	0.158192	0.999997	0.58761	D	2.35	0.67516	M	.	.	.	.	.	.	0.515	0.54584	-1.0003	0.29831	T	0.019	0.07753	T	10	0.008364201	0.00190	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.19926414201924622	0.19843	.	.	0.547485947609	0.45503	T	0.01609	0.13370	T	-0.389767	0.02700	T	-0.308965	0.43769	T	0.0276001529773976	0.01631	T	0.549145	0.18877	T	0.02735461	0.01916	0.098622054	0.23520	0.02735461	0.01916	0.098622054	0.23519	-4.139	0.25863	T	.	.	0.505	0.64803	A	.	.	2.269414	0.29007	17.98	0.98122709793049778	0.38448	0.47354	0.27964	N	AEFBCI	0.063194	0.12195	N	-0.2488027782671	0.31151	1.743895	-0.319272301007583	0.27476	1.524913	0.0271449519002789	0.13756	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.91	1.65	0.23015	2.281000	0.43113	2.360000	0.32366	-0.165000	0.11486	0.994000	0.38300	0.996000	0.32793	0.189000	0.21571	0.0:0.403:0.597:0.0	10.029	0.41260	754	0.51307	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.000000	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	1790.43	33	chr19	41838976	.	G	A	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.067;DP=694;ExcessHet=0;FS=1.5;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.27;SOR=0.52	GT:AD:DP:GQ:PL	0/0:87,0:87:99:0,120,1800	9	0	1	0
chr19	42080447	42080447	G	A	exonic	ZNF574	.	nonsynonymous SNV	ZNF574:NM_001330519:exon2:c.G2111A:p.R704H,ZNF574:NM_022752:exon2:c.G1841A:p.R614H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00998756900412	.	.	8.28e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs764730148	4.788e-06	4.788e-06	4.084e-06	5.5e-06	5.974e-05	1.99e-06	1.28e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	1.799e-06	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.042	0.50226	D	0.012	0.16265	B	0.004	0.10090	B	0.001957	0.37596	N	0.232409	0.869465	0.29609	N	2.5	0.72771	M	2.37	0.15964	T	-3.15	0.65056	D	0.561	0.60579	-1.0460	0.15534	T	0.049	0.21065	T	10	0.36119935	0.52746	T	0.009988	0.25990	T	0.187	0.46274	0.504	0.59770	0.286597616719	0.28274	0.3352617968671613	0.33439	1.35702460636	0.84203	0.716514587402	0.69538	T	0.281263	0.65399	T	-0.114501	0.34025	T	-0.305395	0.44153	T	0.465183258056641	0.31355	T	0.838616	0.54342	T	0.10279514	0.24291	0.081995	0.18680	0.10279514	0.24291	0.081995	0.18679	-7.741	0.59292	D	.	.	0.553	0.66923	A	.;.;.	.;.;.	4.941638	0.81561	27.6	0.99567832895250141	0.72197	0.86053	0.45263	D	AEFDBCI	.	.	.	-0.318190739850905	0.28457	1.569765	-0.238384773650571	0.30173	1.696646	0.999681648509105	0.41756	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.42	4.39	0.52211	2.315000	0.43412	9.955000	0.82755	0.676000	0.76740	0.920000	0.31959	1.000000	0.68203	0.548000	0.30127	0.0809:0.0:0.7631:0.156	8.185	0.30491	846	0.36215	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2966.43	211	chr19	42080447	.	G	A	2966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=531;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=2.09;SOR=0.799	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1065	9	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	424.85	82	chr19	42095399	.	C	G	424.85	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-3.357;DP=824;ExcessHet=0.7463;FS=238.433;InbreedingCoeff=-0.2273;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.83;ReadPosRankSum=-0.96;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:69,0:69:0:.:.:0,0,1436:.	6	0	3	1
chr19	42240097	42240097	C	A	exonic	GSK3A	.	nonsynonymous SNV	GSK3A:NM_019884:exon2:c.G329T:p.G110V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.0761684454369	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1285630690	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.028	0.54934	D	0.977	0.58535	D	0.599	0.50715	P	0.000160	0.49130	D	0.139320	1	0.81001	D	1.04	0.26193	L	1.38	0.69536	T	-6.0	0.89534	D	0.808	0.80375	-0.4299	0.71070	T	0.298	0.66914	T	10	0.7102798	0.72999	D	0.076168	0.72467	D	0.360	0.68052	0.356	0.35734	0.898236776464	0.89722	0.8613371955392976	0.86097	2.15529414545	0.95345	0.80333840847	0.82473	D	0.866228	0.97072	D	0.23943	0.77607	D	0.203002	0.83290	D	0.973077476024628	0.69949	D	0.989923	0.96830	D	0.806033	0.84293	0.6908007	0.81805	0.806033	0.84295	0.6908007	0.81806	-12.16	0.85622	D	.	.	0.525	0.65723	A	.;.;.	.;.;.	4.916850	0.80951	27.4	0.995443829330667	0.70711	0.98899	0.88348	D	AEFBI	0.876655	0.80079	D	0.526754671959987	0.68678	5.250248	0.588854973770847	0.74139	6.086504	1.0	0.98316	0.736574	0.97449	0	0.698795	0.70079	0	0.732669	0.93749	0	0.711	0.71501	0	.	.	5.22	5.22	0.72285	7.542000	0.81035	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.928	0.88909	774	0.48577	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1910.43	35	chr19	42240097	.	C	A	1910.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.086;DP=509;ExcessHet=0;FS=0.536;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.758;SOR=0.748	GT:AD:DP:GQ:PL	0/1:97,89:186:99:1922,0,2236	9	0	1	0
chr19	42249729	42249729	A	C	exonic	ERF	.	nonsynonymous SNV	ERF:NM_001301035:exon4:c.T158G:p.V53G,ERF:NM_001308402:exon4:c.T158G:p.V53G,ERF:NM_001312656:exon4:c.T158G:p.V53G,ERF:NM_006494:exon4:c.T383G:p.V128G	Chitayat syndrome, Autosomal dominant;Craniosynostosis 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	679667	Inborn_genetic_diseases|Craniosynostosis_syndrome	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0001363,Human_Phenotype_Ontology:HP:0001365,Human_Phenotype_Ontology:HP:0004494,Human_Phenotype_Ontology:HP:0005448,Human_Phenotype_Ontology:HP:0005457,Human_Phenotype_Ontology:HP:0005467,Human_Phenotype_Ontology:HP:0008492,MONDO:MONDO:0015469,MeSH:D003398,MedGen:C0010278,OMIM:PS123100,Orphanet:1531	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0479306554676	.	.	6.036e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs781452659	2.965e-05	2.941e-05	1.781e-05	4.165e-05	0.0005	2.234e-05	1.985e-05	0.0004	0.0003	0	0	0	0	0	0.0004	0	1.669e-05	0.0005	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.91255	D	0.002	0.79402	D	0.988	0.62325	D	0.621	0.51426	P	0.017066	0.27816	N	0.325909	1	0.81001	D	2.02	0.55341	M	0.48	0.55945	T	-2.64	0.62630	D	0.441	0.56489	-0.7700	0.56857	T	0.180	0.52736	T	10	0.27994004	0.45568	T	0.047931	0.63147	D	0.282	0.59981	0.414	0.45216	0.498282089621	0.49464	0.6296733072706407	0.62901	1.55285992361	0.87930	0.593680799007	0.52013	T	0.696458	0.91221	D	-0.103252	0.35885	T	-0.092604	0.63965	T	0.459747018543215	0.31156	T	0.909809	0.68064	D	0.52291423	0.68427	0.37089854	0.62330	0.52291423	0.68428	0.37089854	0.62330	-1.13	0.01155	T	0.5640658994147699	0.63163	0.581	0.68086	P	.;.;.	.;.;.	4.886562	0.80184	27.3	0.99662676109903237	0.78074	0.99318	0.94422	D	AEFDBHCI	0.943026	0.94834	D	0.543604280442607	0.69691	5.393433	0.558827081192153	0.72015	5.743503	0.999999999999797	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	2.793000	0.47537	11.029000	0.85041	0.740000	0.86194	0.854000	0.30511	1.000000	0.68203	0.899000	0.43558	1.0:0.0:0.0:0.0	12.472	0.55132	769	0.49307	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1705.43	42	chr19	42249729	.	A	C	1705.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.532;DP=507;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.762;SOR=0.795	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1440	9	0	1	0
chr19	42271989	42271989	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.G206A:p.R69Q,CIC:NM_001379480:exon2:c.G206A:p.R69Q,CIC:NM_001379482:exon2:c.G206A:p.R69Q	.	381	1087	50	4	0	58	0.0259857	.	.	.	2752947	Intellectual_disability,_autosomal_dominant_45|CIC-related_disorder	MONDO:MONDO:0030910,MedGen:C4539848,OMIM:617600|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0	0	.	.	0	0	.	.	0.0036115	94	26028	rs188464728	0.0030	0.0019	0.0030	0.0029	0.0244	0.0028	0.0027	0.0178	0.0155	0.0007	0.0035	0.0050	0.0001	0.0013	0.0244	0.0030	0.0032	0.0187	0.0026	0.0026	0.0025	0.0028	0.0201	0.0024	0.0023	0.0168	0.0156	0.0004	0	0.0036	0.0026	0.0010	0.0008	0.0136	0.0029	0.0038	0.0201	.	.	.	0.409	0.14588	T	.	.	.	.	.	.	.	.	.	.	0.999967	0.18878	N	.	.	.	-5.0	0.98525	D	.	.	.	0.074	0.04790	.	.	.	.	.	.	.	0.0054611266	0.00120	T	.	.	.	.	.	.	.	0.58454684225	0.58127	.	.	.	.	.	.	.	0.003292	0.31165	T	-0.326754	0.06361	T	-0.247063	0.50106	T	.	.	.	0.541546	0.26514	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.	.;.	0.516583	0.08853	5.633	0.80446239995739754	0.13207	0.31796	0.24427	N	AEFBCI	0.051563	0.09122	N	.	.	.	.	.	.	0.999988671698017	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.08	-5.5	0.02373	-0.685000	0.05269	-1.411000	0.05502	-0.874000	0.02518	0.000000	0.06391	0.000000	0.08366	0.425000	0.27339	0.5491:0.1939:0.2569:0.0	6.592	0.21847	662	0.61715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1347.14	36	chr19	42271989	.	G	A	1347.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.192;DP=399;ExcessHet=0.2348;FS=1.593;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=-0.952;SOR=0.508	GT:AD:DP:GQ:PL	0/1:22,27:49:99:673,0,588	8	0	2	0
chr19	42272348	42272348	C	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001304815:exon2:c.C565A:p.P189T,CIC:NM_001379480:exon2:c.C565A:p.P189T,CIC:NM_001379482:exon2:c.C565A:p.P189T	.	493	1016	13	0	0	13	0.00635697	.	.	.	1687354	not_specified|CIC-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.0021899	57	26028	rs543498277	0.0017	0.0008	0.0018	0.0016	0.0131	0.0016	0.0015	0.0084	0.0069	0.0007	0.0028	0.0042	0	0.0006	0.0131	0.0018	0.0019	0.0082	0.0015	0.0015	0.0014	0.0016	0.0089	0.0013	0.0013	0.0068	0.0060	0.0003	0	0.0031	0.0020	0	0.0006	0.0136	0.0015	0.0019	0.0089	.	.	.	0.152	0.32249	T	.	.	.	.	.	.	.	.	.	.	0.994921	0.23412	N	.	.	.	-5.06	0.98629	D	.	.	.	0.231	0.25989	.	.	.	.	.	.	.	0.011315763	0.00248	T	.	.	.	.	.	.	.	0.62136615551	0.61829	.	.	.	.	.	.	.	0.012308	0.10839	T	-0.219127	0.18111	T	-0.100767	0.63339	T	.	.	.	0.640436	0.25296	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.14706	B	.	.	2.520873	0.32578	19.08	0.98787946920913361	0.46237	0.76396	0.37464	D	AEFBCI	0.107073	0.21344	N	.	.	.	.	.	.	0.999994729941838	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.09	1.91	0.24841	1.927000	0.39724	2.635000	0.33717	0.599000	0.40250	0.972000	0.34453	1.000000	0.68203	0.659000	0.32940	0.1765:0.7262:0.0:0.0973	6.711	0.22466	662	0.61715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1420.43	36	chr19	42272348	.	C	A	1420.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.959;DP=443;ExcessHet=0;FS=4.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.28;SOR=0.365	GT:AD:DP:GQ:PL	0/1:44,61:105:99:1432,0,1017	9	0	1	0
chr19	42287057	42287057	G	A	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001379484:exon3:c.G269A:p.G90E,CIC:NM_001379485:exon3:c.G269A:p.G90E,CIC:NM_015125:exon3:c.G269A:p.G90E,CIC:NM_001304815:exon4:c.G2996A:p.G999E,CIC:NM_001379480:exon4:c.G2996A:p.G999E,CIC:NM_001379482:exon4:c.G2996A:p.G999E	.	417	1103	2	0	0	2	0.000905797	.	.	.	2669099	See_cases	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.107948825106	.	.	8.427e-06	0	0	0	0	1.535e-05	0	0	6.5e-06	1	154602	rs763416532	5.479e-06	6.156e-06	2.726e-06	8.26e-06	0.0002	2.36e-06	1.7e-06	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	3.597e-06	1.658e-05	2.319e-05	1.972e-05	1.97e-05	1.284e-05	2.691e-05	4.412e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0	0.002	0.72154	D	0.257	0.39492	T	0.991	0.64070	D	0.766	0.56676	P	.	.	.	.	0.64796	0.32937	D	0.205	0.09354	N	-4.97	0.98468	D	-1.68	0.40082	N	0.577	0.59901	-0.9301	0.44124	T	0.096	0.36029	T	8	0.32193577	0.49550	T	0.107949	0.78425	D	0.089	0.25827	.	.	0.427830603989	0.42401	0.1502565832912238	0.14947	0.433213654183	0.43486	0.673859000206	0.63388	T	0.004745	0.42008	T	0.0983212	0.64110	D	-0.0810589	0.64827	T	0.162007868633253	0.18019	T	0.865613	0.56501	D	0.14626774	0.33491	0.23902562	0.49240	0.14626774	0.33491	0.23902562	0.49239	-4.731	0.33777	T	.	.	0.188	0.40570	B	.;.;.	.;.;.	4.494974	0.70253	25.5	0.98975686107859906	0.49620	0.74834	0.36618	D	AEFDBHCI	0.218171	0.34321	N	0.273929304669584	0.54832	3.647834	0.288167754516497	0.54848	3.648652	0.999998496726187	0.74766	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	4.29	3.19	0.35720	1.026000	0.29708	8.587000	0.77670	0.614000	0.49286	0.956000	0.33378	1.000000	0.68203	0.909000	0.44452	0.0:0.181:0.6326:0.1864	7.450	0.26405	645	0.63593	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	621.43	39	chr19	42287057	.	G	A	621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=339;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=1.19;SOR=0.936	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	9	0	1	0
chr19	42295055	42295055	C	T	exonic	CIC	.	nonsynonymous SNV	CIC:NM_001379484:exon20:c.C4685T:p.S1562L,CIC:NM_001379485:exon20:c.C4682T:p.S1561L,CIC:NM_015125:exon20:c.C4691T:p.S1564L,CIC:NM_001304815:exon21:c.C7418T:p.S2473L,CIC:NM_001379480:exon21:c.C7415T:p.S2472L,CIC:NM_001379482:exon21:c.C7415T:p.S2472L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.265794719012	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1308540080	1.012e-05	1.026e-05	9.995e-06	1.025e-05	3.164e-05	5.87e-06	4.6e-06	4.69e-06	3.42e-06	3.164e-05	0	0	2.787e-05	0	0	9.274e-06	0	2.501e-05	6.587e-06	6.568e-06	0	1.349e-05	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	.	.	.	0.055	0.51421	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.970305	0.27887	N	0	0.06538	N	-5.48	0.99131	D	.	.	.	0.152	0.15609	-1.0409	0.17041	T	0.064	0.26456	T	8	0.11448333	0.21541	T	0.265795	0.89687	D	0.112	0.31546	0.1	0.01484	0.292174397486	0.28832	0.24776580802522458	0.24690	0.902315638145	0.70680	0.760424792767	0.75993	T	0.023373	0.41104	T	-0.124681	0.32359	T	-0.157193	0.58604	T	0.0529498487319	0.06011	T	0.913509	0.70110	D	0.14045821	0.32405	0.19731392	0.43506	0.14045821	0.32405	0.19731392	0.43505	-4.094	0.25201	T	.	.	0.096	0.15430	B	.;.;.;.	.;.;.;.	3.459560	0.48208	22.6	0.98825999114537133	0.46869	0.74855	0.36629	D	AEFDBCI	0.154100	0.27907	N	-0.331121663963494	0.27972	1.539028	-0.168046049707077	0.32720	1.864329	0.991091485452338	0.32370	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.42	4.42	0.52775	0.618000	0.24068	3.947000	0.40646	0.587000	0.30956	0.899000	0.31403	1.000000	0.68203	0.834000	0.39329	0.0:1.0:0.0:0.0	12.733	0.56579	637	0.64373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	539.43	46	chr19	42295055	.	C	T	539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.3;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=-1.351;SOR=0.84	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,627	9	0	1	0
chr19	42376413	42376413	C	T	exonic	MEGF8	.	nonsynonymous SNV	MEGF8:NM_001410:exon41:c.C7975T:p.R2659C,MEGF8:NM_001271938:exon42:c.C8176T:p.R2726C	Carpenter syndrome 2, Autosomal recessive	412	1103	7	0	0	7	0.00316313	.	.	.	694463	not_provided|MEGF8-related_Carpenter_syndrome	MedGen:C3661900|MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.117	0.00965331931724	0.0021	0.000798722	0.0021	0.0005	0.0019	0	0.0011	0.0032	0.0024	0.0005	0.0018952	293	154602	rs141224456	0.0022	0.0022	0.0022	0.0021	0.0029	0.0021	0.0021	0.0022	0.0022	0.0004	0.0022	0.0095	5.039e-05	0.0010	0.0029	0.0023	0.0020	0.0006	0.0018	0.0018	0.0019	0.0017	0.0026	0.0016	0.0016	0.0023	0.0022	0.0003	0	0.0024	0.0098	0	0.0007	0	0.0026	0.0024	0.0004	0.023	0.49117	D	0.085	0.92824	T	0.0	0.17989	B	0.001	0.08700	B	0.812889	0.09237	N	0.905736	0.999998	0.58761	D	0.955	0.23872	L	1.96	0.22270	T	-2.58	0.61722	D	0.16	0.17416	-1.0988	0.04239	T	0.044	0.18865	T	10	0.00673303	0.00153	T	0.009653	0.25222	T	0.117	0.32689	.	.	0.179529687257	0.17594	0.5728963374639368	0.57217	0.732359198622	0.62783	0.758656084538	0.75730	T	0.184389	0.53703	T	-0.429655	0.01489	T	-0.393937	0.34092	T	0.0159459515029174	0.00378	T	0.868613	0.57861	D	0.16157554	0.36177	0.09934851	0.23717	0.16157554	0.36176	0.09934851	0.23716	-4.316	0.28400	T	.	.	0.111	0.36134	B	.;.;.	.;.;.	3.070899	0.41274	21.3	0.99869368422323146	0.94726	0.49394	0.28423	N	AEFBI	0.259593	0.37790	N	-0.48042692670959	0.22723	1.215323	-0.397762149140082	0.25063	1.376133	0.306898076868932	0.19247	0.718356	0.82227	0	0.633656	0.55848	0	0.570548	0.19454	0	0.683762	0.67416	0	.	.	3.9	2.84	0.32241	0.677000	0.24942	3.943000	0.40617	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.950000	0.49671	0.0:0.9052:0.0:0.0948	11.142	0.47631	553	0.71930	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1242.43	41	chr19	42376413	.	C	T	1242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=401;ExcessHet=0;FS=2.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-1.615;SOR=0.438	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1288	9	0	1	0
chr19	42410516	42410516	G	A	exonic	LIPE	.	nonsynonymous SNV	LIPE:NM_005357:exon2:c.C1210T:p.R404C	Lipodystrophy, familial partial, type 6, Autosomal recessive	410	1095	17	0	0	17	0.00770276	.	.	.	728230	LIPE-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.566	0.217913522877	0.0044	0.000599042	0.0036	0.0015	0.0010	0	0.0080	0.0049	0.0056	0.0018	0.0004269	66	154602	rs138983180	0.0048	0.0048	0.0049	0.0048	0.0055	0.0047	0.0047	0.0053	0.0053	0.0007	0.0013	0.0010	2.519e-05	0.0076	0.0038	0.0055	0.0051	0.0019	0.0036	0.0036	0.0036	0.0035	0.0059	0.0033	0.0032	0.0054	0.0053	0.0010	0	0.0012	0.0014	0	0.0062	0	0.0059	0.0005	0.0012	0.003	0.68238	D	0.001	0.92824	D	0.999	0.77913	D	0.861	0.61279	P	0.003323	0.35096	N	0.232206	1	0.81001	D	2.585	0.75554	M	0.65	0.52642	T	-7.28	0.94430	D	0.881	0.87917	-0.3808	0.72626	T	0.249	0.61866	T	10	0.0105186105	0.00234	T	0.217914	0.87632	D	0.566	0.82289	.	.	0.869721110156	0.86845	0.8210747669947854	0.82064	1.22324046253	0.81136	0.691025555134	0.65854	T	0.46375	0.79958	T	-0.0509617	0.44301	T	0.156355	0.80581	D	0.0337942663889258	0.02603	T	0.974103	0.91674	D	0.49857038	0.67011	0.5631909	0.74722	0.5365773	0.69205	0.5071764	0.71518	-11.802	0.83873	D	.	.	0.789	0.76787	P	.;.;.;.	.;.;.;.	5.589615	0.92369	32	0.99942172151798381	0.99824	0.96976	0.71977	D	AEFDBI	0.901363	0.84798	D	0.789468981113959	0.85442	8.577299	0.728123934369746	0.84515	8.31318	0.999999973223675	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	4.42	4.42	0.52775	5.337000	0.65713	11.704000	0.94545	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.327	0.82823	564	0.70960	Hormone-sensitive lipase, N-terminal;Hormone-sensitive lipase, N-terminal;Hormone-sensitive lipase, N-terminal;Hormone-sensitive lipase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	372.43	34	chr19	42410516	.	G	A	372.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.03;DP=349;ExcessHet=0;FS=1.309;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=-2.095;SOR=1.022	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1044	9	0	1	0
chr19	42589522	42589522	T	C	exonic	CEACAM8	.	nonsynonymous SNV	CEACAM8:NM_001816:exon3:c.A638G:p.Y213C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.00702874050868	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs148250749	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999473	0.21134	N	4.865	0.99737	H	-1.35	0.80035	T	-8.11	0.96693	D	0.675	0.68255	-0.1061	0.79959	T	0.745	0.91306	D	9	0.948245	0.94154	D	0.007029	0.18621	T	0.518	0.79461	.	.	0.87510105639	0.87388	0.7743490549062987	0.77384	0.149189735459	0.16824	0.404167443514	0.25648	T	0.46702	0.80152	T	0.239255	0.77591	D	0.105897	0.77300	D	0.993394911289215	0.84176	D	0.886711	0.61387	D	0.5721011	0.71176	0.45882046	0.68558	0.5721011	0.71177	0.45882046	0.68559	-5.918	0.45588	T	.	.	0.623	0.69816	P	.	.	2.518469	0.32539	19.07	0.98659887581910966	0.44317	0.03328	0.08400	N	AEFBI	0.039221	0.05665	N	0.00754318262126388	0.42198	2.538027	-0.339046687462679	0.26850	1.485792	1.75108207965476E-5	0.02871	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	2.7	1.64	0.22949	1.386000	0.34025	-0.346000	0.09780	0.609000	0.47794	0.555000	0.27385	0.000000	0.08366	0.016000	0.10718	0.0:0.0:0.2752:0.7247	5.806	0.17702	312	0.87382	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3128.43	35	chr19	42589522	.	T	C	3128.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.964;DP=606;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-2.274;SOR=0.782	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	42754453	42754453	A	G	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.T757C:p.S253P,PSG8:NM_001130167:exon5:c.T1123C:p.S375P,PSG8:NM_182707:exon5:c.T1123C:p.S375P	.	10	1494	18	0	0	18	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0044	0.0125799	0.0070	0.0019	0.0015	0.0303	0.0009	0.0041	0.0033	0.0166	0.0067011	1036	154602	rs114673766	0.0066	0.0066	0.0062	0.0069	0.0265	0.0065	0.0064	0.0252	0.0246	0.0008	0.0012	0.0010	0.0265	0.0010	0.0017	0.0058	0.0078	0.0171	0.0050	0.0050	0.0047	0.0053	0.0301	0.0047	0.0046	0.0263	0.0248	0.0011	0	0.0014	0.0014	0.0301	0.0009	0.0034	0.0059	0.0009	0.0234	0.054	0.38633	T	0.029	0.65728	D	0.014	0.16867	B	0.011	0.16012	B	.	.	.	.	1	0.08975	N	2.075	0.57047	M	2.64	0.12780	T	-2.81	0.65397	D	0.243	0.28616	-0.9589	0.39386	T	0.008	0.02760	T	9	0.003725946	0.00069	T	.	.	.	0.031	0.07369	.	.	0.0297737177859	0.01360	0.05822754172189655	0.05763	0.00627687952972	0.00547	0.451715141535	0.32179	T	0.010489	0.09467	T	-0.587922	0.00173	T	-0.593601	0.13356	T	0.00400876256644669	0.00043	T	0.339366	0.09705	T	0.2428199	0.47214	0.2267307	0.47660	0.2428199	0.47214	0.2267307	0.47659	-7.537	0.57870	D	.	.	0.058	0.04119	B	.;.;.;.	.;.;.;.	0.276961	0.06543	3.026	0.70176179802681282	0.09210	0.00202	0.01159	N	AEFI	0.036801	0.04962	N	-1.31928889131163	0.03454	0.1543454	-1.46388242005994	0.02647	0.1221067	2.1595115367846E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-1.15	0.09211	0.564000	0.23265	-0.799000	0.07382	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4296:0.0:0.2426:0.3278	1.393	0.02118	432	0.80690	.;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003723	0.000000	0.000000	0.004132	0.000000	0.008621	0.006173	0.007576	0.05	4430.43	33	chr19	42754453	.	A	G	4430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.853;DP=653;ExcessHet=0;FS=0.398;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.67;MQRankSum=-5.628;QD=13.23;ReadPosRankSum=-1.647;SOR=0.721	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr19	42754576	42754576	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon4:c.C634T:p.L212F,PSG8:NM_001130167:exon5:c.C1000T:p.L334F,PSG8:NM_182707:exon5:c.C1000T:p.L334F	.	13	1491	17	1	0	19	0.00633122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00344463947793	0.0018	0.00219649	0.0029	0.0003	0.0008	0	0.0003	0.0033	0.0045	0.0069	0.0003881	60	154602	rs138526624	0.0037	0.0037	0.0036	0.0038	0.0070	0.0036	0.0036	0.0066	0.0064	0.0007	0.0018	0.0207	0	0.0009	0.0042	0.0035	0.0039	0.0070	0.0028	0.0028	0.0028	0.0027	0.0069	0.0025	0.0024	0.0050	0.0044	0.0005	0	0.0042	0.0194	0	0.0006	0.0137	0.0031	0.0062	0.0069	0.081	0.40068	T	0.715	0.30045	T	0.071	0.33288	B	0.071	0.37221	B	.	.	.	.	1	0.08975	N	1.265	0.31966	L	-0.67	0.72458	T	-1.53	0.38540	N	0.087	0.14763	-0.9856	0.33687	T	0.150	0.47804	T	9	0.0065600574	0.00149	T	0.003445	0.07755	T	0.190	0.46781	.	.	0.0138822411134	0.00435	0.03401639684023063	0.03349	0.035168581249	0.03706	0.317776501179	0.13084	T	0.017075	0.13992	T	-0.564746	0.00238	T	-0.580688	0.14484	T	0.00582703217703218	0.00064	T	0.166083	0.12757	T	0.039860595	0.05583	0.051991552	0.08479	0.039860595	0.05582	0.051991552	0.08479	-8.873	0.66875	D	.	.	0.081	0.11076	B	.;.;.;.	.;.;.;.	-0.926013	0.00883	0.032	0.75198454189926567	0.10982	0.00073	0.00509	N	AEFI	0.018037	0.00516	N	-1.61674121924936	0.01183	0.05143476	-1.77913934481223	0.00828	0.03699086	3.96889294915688E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.38	-2.76	0.05547	-3.903000	0.00381	-20.000000	0.00162	-3.051000	0.00132	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2365:0.1888:0.2255:0.3492	0.099	0.00043	431	0.80762	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003735	0.000000	0.001359	0.004098	0.000000	0.008621	0.006289	0.003817	0.05	2431.43	33	chr19	42754576	.	G	A	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.82;DP=463;ExcessHet=0;FS=0.685;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.94;MQRankSum=-0.732;QD=17.62;ReadPosRankSum=0.986;SOR=0.611	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1530	9	0	1	0
chr19	42755266	42755266	G	A	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130168:exon3:c.C344T:p.P115L,PSG8:NM_001130167:exon4:c.C710T:p.P237L,PSG8:NM_182707:exon4:c.C710T:p.P237L	.	12	1504	6	0	0	6	0.00199071	0	0.066	.	2765841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.010	.	.	.	6.071e-05	0	8.67e-05	0	0	4.617e-05	0.0012	0.0002	3.84e-05	1	26028	rs780177782	4.179e-05	4.241e-05	2.317e-05	6.059e-05	0.0004	3.315e-05	3.005e-05	0.0003	0.0002	0	0	0	2.519e-05	0	0.0004	1.889e-05	6.642e-05	0.0004	5.254e-05	5.25e-05	3.857e-05	6.715e-05	0.0004	2.556e-05	1.829e-05	7.301e-05	3.033e-05	0	0.0011	0	0	0	0	0	7.352e-05	0	0.0004	1.0	0.10245	T	0.653	0.23570	T	0.002	0.15093	B	0.001	0.10090	B	.	.	.	.	0.999991	0.18198	N	1.51	0.38214	L	1.84	0.26885	T	-1.22	0.50337	N	0.066	0.06854	-0.9867	0.33420	T	0.036	0.15334	T	9	0.031339675	0.01268	T	7.46E-4	0.00510	T	0.010	0.01040	.	.	0.0138822411134	0.00435	0.2093215140767652	0.20848	0.00664363069739	0.00580	0.439954578876	0.30571	T	0.001592	0.01030	T	-0.465938	0.00902	T	-0.652018	0.08814	T	0.0177414547010075	0.00504	T	0.0711929	0.12604	T	0.022837056	0.00976	0.029335039	0.01259	0.022837056	0.00975	0.029335039	0.01259	-5.975	0.47182	T	.	.	0.109	0.34492	B	.;.;.;.	.;.;.;.	0.339724	0.07133	3.713	0.16617952444257789	0.00453	0.00548	0.02514	N	AEFI	0.047399	0.07976	N	-1.20162848032802	0.04977	0.2258106	-1.29968004654873	0.04435	0.2092047	1.67146454815707E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.44	0.257	0.14830	-1.920000	0.01662	-9.345000	0.00833	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2621:0.0:0.7379:0.0	3.869	0.08533	421	0.81399	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000571	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	3286.43	42	chr19	42755266	.	G	A	3286.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.317;DP=684;ExcessHet=0;FS=0.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.43;MQRankSum=-3.581;QD=12.08;ReadPosRankSum=0.634;SOR=0.743	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	9	0	1	0
chr19	42764233	42764233	A	G	exonic	PSG8	.	nonsynonymous SNV	PSG8:NM_001130167:exon2:c.T113C:p.I38T,PSG8:NM_182707:exon2:c.T113C:p.I38T	.	10	1495	17	0	0	17	0.00565348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0052	0.0129792	0.0075	0.0019	0.0016	0.0322	0.0009	0.0047	0.0033	0.0167	0.0071668	1108	154602	rs75687580	0.0071	0.0071	0.0067	0.0075	0.0277	0.0070	0.0069	0.0264	0.0258	0.0008	0.0013	0.0010	0.0277	0.0010	0.0017	0.0064	0.0087	0.0173	0.0054	0.0054	0.0051	0.0057	0.0318	0.0051	0.0049	0.0278	0.0263	0.0013	0	0.0016	0.0014	0.0318	0.0009	0.0034	0.0065	0.0014	0.0237	0.092	0.31682	T	0.042	0.50514	D	0.927	0.77913	P	0.939	0.92359	D	.	.	.	.	1	0.08975	N	3.095	0.87515	M	-0.02	0.62918	T	-2.83	0.64593	D	0.175	0.22614	-0.8374	0.52819	T	0.150	0.47699	T	9	0.0044965744	0.00092	T	.	.	.	0.147	0.38986	.	.	0.136095386433	0.13204	0.10076108927009744	0.10007	0.0336267795191	0.03527	0.473297297955	0.35134	T	0.022587	0.17389	T	-0.479419	0.00745	T	-0.436362	0.29217	T	0.0581251568778658	0.06870	T	0.777722	0.41106	T	0.17170264	0.37819	0.2813132	0.54112	0.17170264	0.37818	0.2813132	0.54111	-6.143	0.47460	T	.	.	0.118	0.29004	B	.;.;.	.;.;.	1.386717	0.17989	13.48	0.97959423630021947	0.37165	0.00618	0.02733	N	AEFDI	0.032792	0.03771	N	-0.317218749949818	0.28494	1.572	-0.674468267505684	0.17600	0.9365933	0.00202115787133327	0.09096	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.35	0.277	0.14921	0.407000	0.20770	0.372000	0.17687	-0.483000	0.05064	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7496:0.0:0.2504:0.0	3.299	0.06565	410	0.82135	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003209	0.000000	0.000000	0.004167	0.000000	0.008621	0.003125	0.007692	0.05	2896.43	42	chr19	42764233	.	A	G	2896.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.771;DP=702;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=1.46;QD=13.47;ReadPosRankSum=0.508;SOR=0.766	GT:AD:DP:GQ:PL	0/0:111,0:111:99:0,120,1800	9	0	1	0
chr19	42868881	42868881	C	T	exonic	PSG1	.	nonsynonymous SNV	PSG1:NM_001330524:exon3:c.G584A:p.R195Q,PSG1:NM_001184825:exon4:c.G863A:p.R288Q,PSG1:NM_001184826:exon4:c.G863A:p.R288Q,PSG1:NM_001297773:exon4:c.G863A:p.R288Q,PSG1:NM_006905:exon4:c.G863A:p.R288Q	.	15	1459	46	2	0	50	0.0168464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000604984014835	0.0045	0.00259585	0.0053	0.0008	0.0047	0.0004	0.0017	0.0073	0.0046	0.0046	0.0019978	52	26028	rs148212160	0.0062	0.0062	0.0060	0.0063	0.0269	0.0061	0.0060	0.0230	0.0215	0.0015	0.0056	0.0290	7.566e-05	0.0017	0.0269	0.0062	0.0080	0.0045	0.0051	0.0051	0.0056	0.0045	0.0062	0.0048	0.0046	0.0057	0.0055	0.0009	0.0670	0.0058	0.0283	0.0002	0.0015	0.0204	0.0062	0.0090	0.0044	0.389	0.65419	T	0.39	0.33109	T	0.024	0.27209	B	0.023	0.23607	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	2.99	0.09262	T	0.04	0.08187	N	0.105	0.13198	-0.9417	0.42346	T	0.007	0.02321	T	9	0.0033926368	0.00059	T	6.05E-4	0.00274	T	0.013	0.01715	.	.	0.0666544352282	0.05500	0.086408958465541	0.08574	0.00866364585856	0.00788	.	.	.	5.36E-4	0.03393	T	-0.683374	0.00046	T	-0.75303	0.03369	T	3.38542813551612e-05	0.00000	T	0.70163	0.32905	T	0.029852921	0.02548	0.035667937	0.02861	0.029852921	0.02548	0.035667937	0.02861	-2.088	0.03533	T	.	.	0.077	0.13969	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.490925	0.01897	0.157	0.7445620437142858	0.10702	0.00188	0.01093	N	AEFI	0.024380	0.01501	N	-1.65265184355464	0.01024	0.04439887	-1.70450507736129	0.01118	0.05023568	1.53626025775916E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.63	-1.44	0.08391	0.571000	0.23372	0.432000	0.18335	-2.143000	0.00376	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.4426:0.2838:0.0:0.2736	2.353	0.04027	326	0.86709	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.026570	0.040984	0.031680	0.039823	0.000000	0.035714	0.014815	0.000000	0.05	4108.43	41	chr19	42868881	.	C	T	4108.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.412;DP=656;ExcessHet=0;FS=3.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.11;MQRankSum=2.66;QD=13.6;ReadPosRankSum=0.475;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	9	0	1	0
chr19	42916188	42916188	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C364T:p.H122Y,PSG6:NM_002782:exon2:c.C364T:p.H122Y	.	12	1467	36	7	0	50	0.016756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	0.0012	0.00259585	0.0040	0.0002	0.0014	0	0.0002	0.0021	0.0044	0.0194	0.0034282	530	154602	rs139119415	0.0025	0.0025	0.0020	0.0031	0.0185	0.0025	0.0024	0.0178	0.0174	0.0003	0.0010	0.0033	5.044e-05	0.0001	0.0141	0.0016	0.0027	0.0185	0.0016	0.0017	0.0014	0.0019	0.0133	0.0015	0.0014	0.0107	0.0097	0.0001	0	0.0017	0.0009	0	0.0002	0.0171	0.0021	0.0010	0.0133	0.004	0.68238	D	0.047	0.72224	D	0.93	0.51791	P	0.758	0.59611	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.15	0.65192	T	-1.86	0.45587	N	0.115	0.12770	-0.8301	0.53295	T	0.225	0.58881	T	9	0.006159097	0.00139	T	.	.	.	0.239	0.54358	.	.	0.176091768786	0.17195	0.06928119303869801	0.06866	.	.	.	.	.	0.072374	0.34437	T	-0.46887	0.00864	T	-0.452752	0.27393	T	0.0163900769818029	0.00407	T	0.626737	0.27137	T	0.087712385	0.20436	0.13352163	0.32015	0.087712385	0.20436	0.13352163	0.32014	-5.809	0.44653	T	.	.	0.087	0.18037	B	.;.;.;.	.;.;.;.	0.732079	0.11013	7.671	0.95392029452268079	0.26832	0.00242	0.01343	N	AEFGI	0.035754	0.04655	N	-0.81176743570302	0.13009	0.637949	-1.08289132577062	0.08037	0.3934445	0.00276824863812657	0.09691	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.24	-4.05	0.03730	-0.455000	0.06837	-14.841000	0.00384	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.2257:0.2665:0.2268	0.152	0.00088	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010440	0.000000	0.009511	0.008333	0.000000	0.017241	0.022581	0.003968	0.05	4137.43	259	chr19	42916188	.	G	A	4137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.96;DP=2384;ExcessHet=0;FS=1.126;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=-1.179;QD=9.58;ReadPosRankSum=0.821;SOR=0.814	GT:AD:DP:GQ:PL	0/0:305,0:305:99:0,120,1800	9	0	1	0
chr19	42916416	42916416	A	-	exonic	PSG6	.	frameshift deletion	PSG6:NM_001031850:exon2:c.136delT:p.S46Pfs*27,PSG6:NM_002782:exon2:c.136delT:p.S46Pfs*27	.	11	1478	28	5	0	38	0.0126921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0003	0.0016	0	0	0.0020	0.0022	0.0010	0.0011966	185	154602	rs766441817	0.0010	0.0010	0.0009	0.0011	0.0257	0.0010	0.0009	0.0223	0.0210	0.0006	0.0023	0.0097	0	5.617e-05	0.0257	0.0006	0.0021	0.0012	0.0012	0.0012	0.0013	0.0011	0.0040	0.0010	0.0010	0.0032	0.0029	9.671e-05	0	0.0040	0.0055	0.0002	0	0.0136	0.0012	0.0029	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019210	0.015464	0.032609	0.033333	0.000000	0.000000	0.009259	0.003817	0.05	4335.39	40	chr19	42916415	.	GA	G	4335.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.734;DP=672;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=-1.2;SOR=0.872	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1389	9	0	1	0
chr19	42925908	42925908	C	T	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon4:c.G742A:p.G248R,PSG7:NM_002783:exon5:c.G1108A:p.G370R	.	11	1486	20	5	0	30	0.00999334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.000399361	0.0012	0.0002	0.0012	0	0	0.0017	0.0022	0.0007	0.0011707	181	154602	rs201797371	0.0008	0.0008	0.0007	0.0009	0.0220	0.0008	0.0008	0.0189	0.0177	0.0005	0.0020	0.0097	0	5.617e-05	0.0220	0.0005	0.0016	0.0008	0.0010	0.0010	0.0011	0.0009	0.0038	0.0009	0.0008	0.0030	0.0028	0.0001	0	0.0038	0.0055	0.0002	0	0.0136	0.0009	0.0019	0.0002	.	.	.	0.014	0.67890	D	0.544	0.37968	P	0.786	0.57542	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37820	.	.	.	.	.	.	.	0.0067870617	0.00154	T	.	.	.	.	.	.	.	0.151104730317	0.14643	0.051088954189910225	0.05050	.	.	0.416956722736	0.27419	T	0.034807	0.23469	T	-0.231353	0.16470	T	-0.111266	0.62510	T	.	.	.	0.816118	0.48291	T	0.055556834	0.10814	0.17338873	0.39662	0.055556834	0.10813	0.17338873	0.39661	-6.721	0.51969	T	.	.	0.155	0.40328	B	.;.;.	.;.;.	1.499847	0.19283	14.18	0.96772207504775054	0.31042	0.00770	0.03176	N	AEFI	0.027467	0.02249	N	.	.	.	.	.	.	1.94330297761093E-4	0.05898	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.34	1.34	0.21018	0.593000	0.23700	-0.251000	0.10506	0.420000	0.20791	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	6.042	0.18968	757	0.50970	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014878	0.020408	0.024457	0.020833	0.000000	0.000000	0.003067	0.000000	0.05	4607.43	33	chr19	42925908	.	C	T	4607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.091;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=-1.317;QD=13.32;ReadPosRankSum=2.74;SOR=0.676	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr19	42929524	42929524	G	C	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon2:c.C261G:p.N87K,PSG7:NM_002783:exon3:c.C627G:p.N209K	.	10	1462	47	3	0	53	0.0178032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055	0.00439297	0.0059	0.0010	0.0048	0.0024	0.0017	0.0078	0.0066	0.0060	0.0055885	864	154602	rs146569565	0.0065	0.0065	0.0063	0.0066	0.0307	0.0064	0.0063	0.0270	0.0256	0.0016	0.0057	0.0291	0.0010	0.0017	0.0307	0.0064	0.0089	0.0057	0.0053	0.0054	0.0058	0.0049	0.0065	0.0050	0.0049	0.0060	0.0058	0.0009	0.0680	0.0058	0.0289	0.0023	0.0016	0.0204	0.0065	0.0085	0.0063	.	.	.	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.07535	.	.	.	.	.	.	.	0.004633993	0.00097	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.08514320760388049	0.08448	.	.	0.434188365936	0.29781	T	0.003173	0.02576	T	-0.518392	0.00450	T	-0.507023	0.21621	T	.	.	.	0.0775922	0.01553	T	0.04992332	0.08939	0.08294131	0.18968	0.04992332	0.08938	0.08294131	0.18968	-0.974	0.00971	T	.	.	0.076	0.22573	B	.;.;.	.;.;.	-0.905720	0.00916	0.034	0.24092682129794563	0.01049	0.00005	0.00104	N	AEFBI	0.014013	0.00207	N	.	.	.	.	.	.	0.00201933433724678	0.09087	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.36	0.167	0.14292	0.309000	0.19094	-3.405000	0.02812	-1.286000	0.01263	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.6421:0.3579:0.0	5.471	0.15967	754	0.51307	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027404	0.035714	0.031335	0.044218	0.000000	0.043103	0.015432	0.000000	0.05	4084.43	218	chr19	42929524	.	G	C	4084.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.577;DP=1486;ExcessHet=0;FS=1.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.02;MQRankSum=-6.983;QD=11.94;ReadPosRankSum=-0.371;SOR=0.793	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	9	0	1	0
chr19	42929584	42929584	C	A	exonic	PSG7	.	nonsynonymous SNV	PSG7:NM_001206650:exon2:c.G201T:p.M67I,PSG7:NM_002783:exon3:c.G567T:p.M189I	.	11	1494	16	1	0	18	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.013778	0.0069	0.0235	0.0016	0.0022	0	4.497e-05	0.0022	0.0333	0.0061577	952	154602	rs142253248	0.0029	0.0029	0.0020	0.0038	0.0335	0.0028	0.0028	0.0325	0.0321	0.0255	0.0015	0	0.0014	0	0.0035	6.119e-05	0.0041	0.0335	0.0079	0.0079	0.0075	0.0083	0.0376	0.0075	0.0074	0.0331	0.0314	0.0229	0	0.0020	0	0.0033	0	0.0068	5.893e-05	0.0071	0.0376	.	.	.	0.243	0.24406	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.07125	.	.	.	.	.	.	.	0.0036530495	0.00067	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.052343743308137944	0.05176	.	.	0.504371106625	0.39437	T	0.00281	0.02207	T	-0.40364	0.02191	T	-0.328203	0.41669	T	.	.	.	0.39616	0.10064	T	0.19525424	0.41307	0.16165401	0.37590	0.19525424	0.41307	0.16165401	0.37589	-3.333	0.14166	T	.	.	0.121	0.35393	B	.;.;.	.;.;.	-0.621029	0.01515	0.097	0.46984665577688489	0.03806	0.00118	0.00744	N	AEFBI	0.014153	0.00215	N	.	.	.	.	.	.	0.00296000797150983	0.09827	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	.	.	1.36	-1.7	0.07721	0.163000	0.16338	-1.217000	0.05997	-0.436000	0.05186	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2468:0.3346:0.4186:0.0	2.460	0.04262	754	0.51307	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005051	0.005051	0.000000	0.002941	0.000000	0.000000	0.006098	0.015152	0.05	3661.43	218	chr19	42929584	.	C	A	3661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.319;DP=1543;ExcessHet=0;FS=1.882;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-1.412;SOR=0.828	GT:AD:DP:GQ:PL	0/0:141,0:141:99:0,120,1800	9	0	1	0
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D,PSG5:NM_002781:exon3:c.A510C:p.E170D	.	11	1445	66	0	0	66	0.0223275	.	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	938.14	120	chr19	43176069	.	T	G	938.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.891;DP=1745;ExcessHet=0.2348;FS=0.923;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=53.56;MQRankSum=-6.276;QD=1.16;ReadPosRankSum=4.56;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:342,31:373:99:0|1:43176063_C_T:272,0,14081:43176063	8	0	2	0
chr19	43195052	43195052	C	A	exonic	PSG4	.	stopgain	PSG4:NM_001276495:exon3:c.G652T:p.E218X,PSG4:NM_001316339:exon3:c.G565T:p.E189X,PSG4:NM_002780:exon4:c.G931T:p.E311X	.	14	1445	63	0	0	63	0.0213342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00439297	0.0054	9.628e-05	0.0013	0.0001	0.0012	0.0033	0.0055	0.0246	0.0047606	736	154602	rs147584129	0.0038	0.0038	0.0031	0.0045	0.0246	0.0037	0.0037	0.0237	0.0234	0.0004	0.0017	0.0092	0.0001	0.0007	0.0154	0.0024	0.0042	0.0246	0.0024	0.0025	0.0020	0.0029	0.0235	0.0022	0.0021	0.0200	0.0187	0.0005	0	0.0016	0.0076	0.0004	0.0006	0.0034	0.0025	0.0033	0.0235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.053	0.02462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00454612	0.51026	T	0.238947	0.85101	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;.	High;.;.	6.631227	0.95511	35	0.98047665674102158	0.37843	0.02893	0.07682	N	AEFI	0.065985	0.12899	N	0.0948068697086606	0.46220	2.865795	-0.329135309425047	0.27162	1.505306	3.08458017946517E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.45	1.45	0.21708	0.768000	0.26252	.	.	-0.748000	0.03609	0.084000	0.22438	0.000000	0.08366	0.003000	0.05239	0.0:1.0:0.0:0.0	6.272	0.20167	814	0.42100	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018605	0.013699	0.010929	0.034483	0.000000	0.000000	0.025000	0.032787	0.15	7772.45	262	chr19	43195052	.	C	A	7772.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.64;DP=1055;ExcessHet=0.7463;FS=1.745;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=54.21;MQRankSum=-8.608;QD=10.09;ReadPosRankSum=1.2;SOR=0.591	GT:AD:DP:GQ:PL	0/1:144,115:259:99:2464,0,3512	7	0	3	0
chr19	43486867	43486867	G	T	exonic	PHLDB3	.	nonsynonymous SNV	PHLDB3:NM_198850:exon11:c.C1253A:p.S418Y	.	425	1092	5	0	0	5	0.00228415	.	.	.	741959	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.0100657709054	0.0002	0.000798722	0.0005	0	0.0003	0.0002	0	0.0002	0	0.0045	0.0003752	58	154602	rs141588036	0.0003	0.0003	0.0001	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	3.112e-05	7.786e-05	0	2.555e-05	0	0.0027	4.713e-05	0.0003	0.0041	0.0002	0.0002	0.0001	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.406e-05	0	0	0	0	0	0	5.881e-05	0	0.0052	0.004	0.65419	D	0.036	0.72224	D	0.679	0.41373	P	0.143	0.33763	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	0.86	0.46777	T	-2.0	0.46146	N	0.342	0.38335	-1.0548	0.13093	T	0.076	0.30584	T	9	0.008742094	0.00198	T	0.010066	0.26169	T	0.077	0.22490	.	.	0.573511999043	0.57018	0.47402899954013006	0.47321	0.254992952433	0.28080	0.515467464924	0.40989	T	0.004917	0.38036	T	-0.579452	0.00194	T	-0.607855	0.12159	T	0.0582364144455476	0.06887	T	0.748825	0.36981	T	0.103424236	0.24446	0.17320788	0.39630	0.103424236	0.24445	0.17320788	0.39630	-4.034	0.24311	T	.	.	0.110	0.32153	B	.;.	.;.	3.211600	0.43716	21.8	0.99171605430664289	0.54412	0.65249	0.32674	D	AEFDBI	0.107075	0.21344	N	-0.313991726659636	0.28616	1.579841	-0.296880375292858	0.28201	1.570482	0.173957573083162	0.17776	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	3.99	2.92	0.32998	3.040000	0.49489	.	.	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.261000	0.23543	0.0:0.0:0.7795:0.2205	9.020	0.35357	889	0.27310	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	757.43	36	chr19	43486867	.	G	T	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.953;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=0.37;SOR=0.728	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr19	43497792	43497792	G	A	exonic	PHLDB3	.	stopgain	PHLDB3:NM_198850:exon5:c.C619T:p.Q207X	.	430	1089	3	0	0	3	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0	0	0	0	0	0.0009	0.00011	17	154602	rs563015561	8.83e-05	8.824e-05	5.625e-05	0.0001	0.0012	7.504e-05	7.075e-05	0.0009	0.0008	0	2.772e-05	0	0	0	0.0012	2.588e-05	0.0001	0.0010	6.566e-05	6.562e-05	3.854e-05	9.399e-05	0.0010	3.514e-05	2.614e-05	0.0004	0.0003	0	0	6.54e-05	0	0	0	0	5.88e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000034	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.132	0.12770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220907	0.75862	D	0.452991	0.93651	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.808236	0.98051	38	0.99773129263003846	0.86088	0.58017	0.30529	D	AEFBI	0.037392	0.05136	N	0.651246397598985	0.76450	6.488681	0.444715919746618	0.64377	4.691608	0.0297200218086353	0.13902	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.26	3.15	0.35301	2.612000	0.46007	.	.	0.607000	0.46521	0.992000	0.37556	1.000000	0.68203	0.848000	0.40082	0.0:0.0:0.7989:0.2011	9.982	0.40988	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	826.43	40	chr19	43497792	.	G	A	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.266;DP=448;ExcessHet=0;FS=2.646;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=1.49;SOR=0.906	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr19	43554740	43554740	C	T	exonic	XRCC1	.	nonsynonymous SNV	XRCC1:NM_006297:exon4:c.G320A:p.R107H	.	403	1113	6	0	0	6	0.00268817	.	.	.	741963	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.464	0.0530495574626	0.0003	0.000798722	0.0005	0	8.637e-05	0.0002	0	0.0002	0	0.0029	0.0004398	68	154602	rs2228487	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	5.974e-05	8.947e-05	0	2.519e-05	0	0.0017	7.555e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0003	0.0048	0.0002	0.0001	0.0033	0.0028	2.407e-05	0	6.54e-05	0	0	0	0	8.821e-05	0.0005	0.0048	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.77	0.25841	T	-4.42	0.77470	D	0.613	0.62950	-0.7742	0.56625	T	0.170	0.51133	T	10	0.016597629	0.00350	T	0.05305	0.65316	D	0.464	0.76023	.	.	0.706338937978	0.70378	0.5654144105007113	0.56468	0.7923309474	0.65863	0.663354516029	0.61889	T	0.130731	0.45980	T	-0.20468	0.20134	T	-0.0698351	0.65637	T	0.173886074572367	0.18840	T	0.89601	0.66542	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.75696	P	.;.;.;.	.;.;.;.	4.111503	0.61381	24.3	0.99948199941252902	0.99923	0.90956	0.52581	D	AEFDBCI	0.547814	0.56136	D	0.534067131463498	0.69117	5.311878	0.415212351183495	0.62511	4.467798	0.999422425849182	0.39630	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.92	3.88	0.43959	5.457000	0.66411	.	.	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.453000	0.27962	0.0:0.9123:0.0:0.0877	11.950	0.52237	889	0.27310	.;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, N-terminal;DNA-repair protein Xrcc1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1427.43	33	chr19	43554740	.	C	T	1427.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=458;ExcessHet=0;FS=2.977;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.365;SOR=0.914	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1198	9	0	1	0
chr19	43613643	43613643	C	G	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1522G:p.Q508E	.	441	1044	36	1	0	38	0.0178739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0028	0.00698882	0.0147	0	0.0105	0.0018	0	0.0036	0.0158	0.0314	0.0024967	386	154602	rs201956919	0.0044	0.0042	0.0034	0.0055	0.0342	0.0043	0.0043	0.0332	0.0327	0.0007	0.0024	0.0041	8.424e-05	0.0002	0.0121	0.0027	0.0050	0.0342	0.0037	0.0048	0.0034	0.0040	0.0336	0.0034	0.0033	0.0291	0.0274	0.0013	0.0231	0.0034	0.0045	0.0007	0.0002	0.0309	0.0035	0.0036	0.0336	1.0	0.00964	T	0.603	0.07868	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	.	.	.	0.74	0.02038	N	0.02	0.00308	-0.9896	0.32702	T	0.020	0.08266	T	8	0.0035606325	0.00064	T	.	.	.	0.004	0.00165	.	.	.	.	0.003820140044259554	0.00358	0.0132014889306	0.01271	0.201208040118	0.00493	T	5.44E-4	0.00213	T	-0.714455	0.00030	T	-0.775357	0.02596	T	0.000448618851655258	0.00004	T	0.146485	0.01205	T	0.03308003	0.03456	0.038168784	0.03628	0.03308003	0.03455	0.038168784	0.03628	0.626	0.00188	T	.	.	0.066	0.02257	B	.;.	.;.	-2.353351	0.00045	0.001	0.52147503178587262	0.04693	0.00072	0.00504	N	AEFBI	0.014288	0.00221	N	-1.69771834808168	0.00850	0.03676546	-1.7240476626815	0.01035	0.04643669	0.00149454894049602	0.08586	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.31	-5.2	0.02608	-3.864000	0.00391	.	.	-0.691000	0.04129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.146:0.3384:0.2883:0.2272	2.269	0.03837	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012626	0.000000	0.000000	0.000000	0.000000	0.000000	0.041667	0.045455	0.05	4769.43	160	chr19	43613643	.	C	G	4769.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.37;DP=1665;ExcessHet=0;FS=1.747;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=-1.054;QD=11.78;ReadPosRankSum=0.06;SOR=0.837	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	9	0	1	0
chr19	43613809	43613809	C	T	exonic	SRRM5	.	nonsynonymous SNV	SRRM5:NM_001145641:exon1:c.C1688T:p.P563L	.	420	1085	17	0	0	17	0.00777321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0153751566796	0.0024	0.00199681	0.0055	0.0014	0.0082	0.0019	0	0.0077	0	0.0044	0.0014036	217	154602	rs189487564	0.0044	0.0042	0.0044	0.0044	0.0172	0.0043	0.0043	0.0145	0.0134	0.0007	0.0049	0.0154	0.0003	0.0009	0.0172	0.0042	0.0072	0.0060	0.0033	0.0032	0.0031	0.0034	0.0064	0.0030	0.0029	0.0047	0.0043	0.0007	0	0.0056	0.0161	0.0006	0.0002	0.0068	0.0040	0.0066	0.0064	0.007	0.59928	D	0.01	0.65728	D	0.793	0.44725	P	0.422	0.45143	B	.	.	.	.	0.999999	0.08975	N	0.975	0.24501	L	.	.	.	-4.68	0.79659	D	0.224	0.25130	-1.0707	0.09260	T	0.054	0.22693	T	8	0.005734563	0.00128	T	0.015375	0.36078	T	0.029	0.06676	.	.	0.104622674875	0.10061	0.019280012861044506	0.01881	0.0417772331007	0.04490	0.200203061104	0.00463	T	0.02123	0.16569	T	-0.570039	0.00221	T	-0.59037	0.13634	T	0.0468255951324705	0.04933	T	0.530647	0.17608	T	0.049736846	0.08879	0.08718135	0.20249	0.049736846	0.08878	0.08718135	0.20248	-6.677	0.51637	T	.	.	0.205	0.43325	B	.;.	.;.	1.128449	0.15150	11.63	0.98062548651974801	0.37960	0.06784	0.12808	N	AEFBI	0.054408	0.09890	N	-0.585054194560243	0.19397	1.014898	-0.692573163760456	0.17145	0.9103878	1.94930341135553E-4	0.05898	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.8	2.69	0.30923	-0.702000	0.05171	.	.	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.811:0.0:0.189	8.668	0.33294	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005682	0.000000	0.000000	0.004348	0.000000	0.125000	0.000000	0.000000	0.05	3605.43	160	chr19	43613809	.	C	T	3605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.63;DP=1339;ExcessHet=0;FS=2.565;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.189;SOR=0.544	GT:AD:DP:GQ:PL	0/0:118,0:118:99:0,120,1800	9	0	1	0
chr19	43626808	43626808	A	G	exonic	CADM4	.	nonsynonymous SNV	CADM4:NM_145296:exon4:c.T475C:p.Y159H	.	378	1093	48	3	0	54	0.0241071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	.	0.0048	0.0091853	0.0069	0.0077	0.0026	0.0003	0.0003	0.0032	0.0104	0.0329	0.0061901	957	154602	rs112876885	0.0047	0.0047	0.0037	0.0057	0.0338	0.0046	0.0045	0.0327	0.0323	0.0095	0.0027	0.0040	0.0001	0.0003	0.0138	0.0027	0.0054	0.0338	0.0054	0.0054	0.0052	0.0056	0.0297	0.0051	0.0050	0.0257	0.0242	0.0083	0.0208	0.0036	0.0043	0.0002	9.422e-05	0.0204	0.0033	0.0062	0.0297	0.056	0.38185	T	0.011	0.64786	D	0.001	0.07471	B	0.002	0.06944	B	0.002595	0.36278	N	0.235044	0.606865	0.32586	D	2.58	0.75369	M	-1.14	0.77843	T	-3.09	0.63438	D	0.255	0.28849	-0.5179	0.67993	T	0.289	0.66036	T	10	0.011398047	0.00249	T	.	.	.	0.313	0.63482	.	.	0.710195464035	0.70766	0.7519354844662318	0.75140	2.27231841279	0.96288	0.561181128025	0.47434	T	0.499057	0.82023	T	-0.351502	0.04633	T	-0.254687	0.49352	T	0.0259419428038908	0.01398	T	0.835616	0.50622	T	0.13797368	0.31927	0.17674974	0.40231	0.13797368	0.31927	0.17674974	0.40230	-7.972	0.60879	D	.	.	0.392	0.59143	A	.	.	3.999448	0.58918	24.0	0.99369497534935214	0.61368	0.87655	0.47267	D	AEFDBI	0.337104	0.43501	N	-0.495223544451615	0.22237	1.185929	-0.426924970423787	0.24210	1.324519	0.0138866362619238	0.12523	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.48	3.35	0.37468	1.865000	0.39117	.	.	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.7721:0.1484:0.0795:0.0	7.041	0.24198	895	0.25842	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013092	0.010101	0.008152	0.002924	0.000000	0.000000	0.021341	0.037879	0.05	939.43	44	chr19	43626808	.	A	G	939.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.465;SOR=0.749	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	43797757	43797757	G	A	exonic	LYPD5	.	nonsynonymous SNV	LYPD5:NM_001288763:exon4:c.C461T:p.P154L,LYPD5:NM_001031749:exon5:c.C590T:p.P197L,LYPD5:NM_182573:exon5:c.C461T:p.P154L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.043782776311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.566e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.004	0.68238	D	0.025	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.037739	0.24367	N	0.179558	0.994423	0.42277	D	1.845	0.48678	L	-0.33	0.68329	T	-4.69	0.90060	D	0.291	0.32921	-0.5661	0.66170	T	0.266	0.63684	T	10	0.31208014	0.48671	T	0.043783	0.61161	D	0.414	0.72479	0.571	0.69431	0.761549872988	0.75938	0.5553560606997454	0.55462	0.799070416977	0.66161	0.440112531185	0.30592	T	0.054642	0.29782	T	0.0268098	0.55296	T	-0.199266	0.54716	T	0.986146867275238	0.76940	D	0.822018	0.48145	T	0.21015973	0.43304	0.2536725	0.51019	0.21015973	0.43304	0.2536725	0.51018	-2.789	0.08082	T	.	.	0.407	0.59992	A	.;.;.	.;.;.	4.501928	0.70423	25.5	0.99677533615708847	0.79043	0.73591	0.35996	D	AEFDBCI	0.251189	0.37110	N	0.350484261339935	0.58764	4.050863	0.323820595969576	0.56943	3.858571	0.766036696712954	0.23589	0.625279	0.40028	0	0.610034	0.51514	0	0.687403	0.62504	0	0.663205	0.64265	0	.	.	3.82	2.71	0.31092	2.958000	0.48838	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.6262:0.3738	8.040	0.29673	900	0.24599	Ly-6 antigen/uPA receptor-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1034.43	34	chr19	43797757	.	G	A	1034.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=405;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.79;SOR=0.566	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1063	9	0	1	0
chr19	43996525	43996525	A	T	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon5:c.A668T:p.Q223L,ZNF155:NM_001260487:exon5:c.A668T:p.Q223L,ZNF155:NM_003445:exon5:c.A668T:p.Q223L,ZNF155:NM_198089:exon5:c.A668T:p.Q223L,ZNF155:NM_001260488:exon6:c.A701T:p.Q234L	.	419	1050	49	4	0	57	0.0264256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	.	0.0049	0.00519169	0.0063	0.0062	0.0062	0	0.0003	0.0047	0.0044	0.0184	0.0056209	869	154602	rs62640893	0.0041	0.0041	0.0035	0.0047	0.0199	0.0040	0.0040	0.0191	0.0188	0.0064	0.0055	0.0411	2.519e-05	0.0003	0.0160	0.0020	0.0066	0.0199	0.0053	0.0053	0.0050	0.0057	0.0168	0.0050	0.0049	0.0138	0.0127	0.0074	0	0.0084	0.0374	0	9.411e-05	0.0136	0.0021	0.0066	0.0168	0.084	0.32929	T	0.087	0.41742	T	0.981	0.59675	D	0.905	0.64260	P	.	.	.	.	0.997188	0.22759	N	0.18	0.09070	N	3.42	0.05507	T	-4.18	0.75615	D	0.116	0.13769	-1.0267	0.21527	T	0.039	0.16849	T	9	0.004463047	0.00092	T	.	.	.	0.030	0.07022	.	.	0.31077124679	0.30691	0.030600505512641492	0.03009	0.0959658060652	0.10830	0.27735710144	0.07127	T	0.042552	0.26220	T	-0.615684	0.00117	T	-0.642884	0.09460	T	0.051471745858201	0.05757	T	0.20468	0.02388	T	0.06652734	0.14321	0.08079469	0.18306	0.06652734	0.14321	0.08079469	0.18306	-5.602	0.42810	T	.	.	0.177	0.42375	B	.;.;.;.	.;.;.;.	1.051754	0.14328	10.91	0.99437527373424284	0.64571	0.11856	0.16905	N	AEFBI	0.057234	0.10646	N	-0.680687512903077	0.16572	0.8455478	-0.791843044207809	0.14695	0.7691477	0.00535347471497114	0.10912	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	2.59	1.48	0.21900	0.053000	0.14067	.	.	-0.701000	0.04053	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7917:0.0:0.0:0.2083	6.836	0.23118	620	0.66037	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.030303	0.019022	0.017544	0.000000	0.000000	0.012195	0.022727	0.05	3318.43	161	chr19	43996525	.	A	T	3318.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=2094;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.703;SOR=0.701	GT:AD:DP:GQ:PL	0/0:202,0:202:99:0,120,1800	9	0	1	0
chr19	44081096	44081096	T	C	exonic	ZNF284	.	nonsynonymous SNV	ZNF284:NM_001037813:exon3:c.T97C:p.Y33H	.	429	1059	33	1	0	35	0.0162564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	0.0026	0.00299521	0.0040	9.612e-05	0.0007	0.0001	0	0.0035	0.0055	0.0144	0.0034928	540	154602	rs200252807	0.0022	0.0022	0.0019	0.0026	0.0142	0.0022	0.0022	0.0136	0.0133	2.989e-05	0.0006	0.0327	7.56e-05	5.637e-05	0.0076	0.0008	0.0042	0.0142	0.0021	0.0021	0.0018	0.0023	0.0149	0.0019	0.0018	0.0122	0.0111	0.0002	0	0.0010	0.0357	0	0	0.0034	0.0013	0.0028	0.0149	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999744	0.20516	N	2.68	0.78455	M	3.15	0.07820	T	-4.41	0.77391	D	0.833	0.82862	-1.0953	0.04709	T	0.076	0.30522	T	9	0.010199189	0.00228	T	.	.	.	0.204	0.49076	.	.	0.347217280506	0.34334	0.3909353900795616	0.39008	0.263362769857	0.28890	0.538397312164	0.44219	T	0.025173	0.18878	T	-0.366003	0.03802	T	-0.286838	0.46101	T	0.101037793179473	0.12471	T	0.760924	0.38541	T	0.47300163	0.65475	0.4574436	0.68470	0.47300163	0.65475	0.4574436	0.68471	-8.649	0.65411	D	.	.	0.684	0.72315	P	.	.	3.128092	0.42255	21.5	0.996016645120815	0.74219	0.50088	0.28582	D	AEFDGBI	0.075101	0.15072	N	0.22012002918773	0.52175	3.393368	-0.0357576965561809	0.38114	2.240851	7.25890864065083E-4	0.07704	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	1.64	1.64	0.22949	1.750000	0.37956	.	.	0.497000	0.22564	1.000000	0.71638	0.003000	0.18671	0.132000	0.19645	0.0:0.0:0.0:1.0	5.343	0.15295	622	0.65860	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008056	0.000000	0.002717	0.011696	0.000000	0.000000	0.015244	0.015152	0.05	4649.43	39	chr19	44081096	.	T	C	4649.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.51;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.842;SOR=0.674	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,114,1710	9	0	1	0
chr19	44131342	44131342	G	A	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.G728A:p.R243H,ZNF225:NM_001321685:exon6:c.G728A:p.R243H	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00111256620679	0.0018	0.000599042	0.0014	0.0003	0.0008	0	0	0.0022	0	0.0006	0.0015071	233	154602	rs189754665	0.0024	0.0024	0.0025	0.0024	0.0029	0.0024	0.0023	0.0029	0.0028	0.0004	0.0013	0.0014	2.519e-05	0.0001	0.0002	0.0029	0.0017	0.0008	0.0019	0.0019	0.0018	0.0019	0.0031	0.0017	0.0016	0.0025	0.0024	0.0008	0	0.0031	0.0012	0	0.0002	0	0.0029	0.0009	0.0006	0.492	0.07944	T	0.263	0.22828	T	0.994	0.66517	D	0.766	0.56676	P	.	.	.	.	1	0.08975	N	1.14	0.29013	L	3.42	0.05507	T	-1.58	0.38151	N	0.054	0.04547	-0.9863	0.33518	T	0.014	0.05608	T	9	0.0075659156	0.00172	T	0.001113	0.01336	T	0.142	0.37995	.	.	0.251116650651	0.24721	0.024480960759905513	0.02399	0.37284623432	0.38767	0.208990484476	0.00769	T	0.003965	0.03373	T	-0.652491	0.00070	T	-0.709082	0.05343	T	0.0286330944940852	0.01782	T	0.576842	0.20728	T	0.024888055	0.01366	0.033431817	0.02237	0.024888055	0.01365	0.033431817	0.02236	-3.117	0.11492	T	.	.	0.278	0.55713	B	.;.	.;.	2.309853	0.29567	18.16	0.9964347356459311	0.76819	0.02756	0.07444	N	AEFGBI	0.046436	0.07711	N	-0.539811700572955	0.20805	1.099465	-0.678001436027585	0.17511	0.9314648	0.00780157269580083	0.11547	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	2.97	0.744	0.17503	-1.998000	0.01558	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.3692:0.0:0.4246:0.2062	2.734	0.04913	615	0.66512	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3442.43	38	chr19	44131342	.	G	A	3442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.69;DP=640;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.318;SOR=0.698	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,103,1553	9	0	1	0
chr19	44132312	44132312	A	T	exonic	ZNF225	.	nonsynonymous SNV	ZNF225:NM_013362:exon5:c.A1698T:p.R566S,ZNF225:NM_001321685:exon6:c.A1698T:p.R566S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0007	0.00579073	0.0041	0.0001	0.0007	0.0001	0.0003	0.0012	0.0022	0.0240	0.0035575	550	154602	rs183264537	0.0022	0.0022	0.0015	0.0029	0.0230	0.0022	0.0021	0.0221	0.0218	0.0001	0.0004	0.0017	5.04e-05	0.0005	0.0069	0.0009	0.0026	0.0230	0.0015	0.0015	0.0011	0.0019	0.0251	0.0013	0.0012	0.0215	0.0201	0.0001	0	0.0003	0.0023	0	0.0005	0.0102	0.0011	0.0014	0.0251	0.001	0.78490	D	0.0	0.92824	D	0.949	0.53761	P	0.719	0.54822	P	.	.	.	.	1	0.81001	D	1.515	0.38264	L	2.16	0.19166	T	-1.96	0.45404	N	0.127	0.12913	-1.0569	0.12543	T	0.079	0.31466	T	9	0.004302144	0.00087	T	.	.	.	0.054	0.15330	.	.	0.313210971179	0.30940	0.029882056873656238	0.02937	0.434351109688	0.43575	0.381959468126	0.22535	T	0.014165	0.12111	T	-0.568964	0.00225	T	-0.572468	0.15224	T	0.0614131835042637	0.07389	T	0.608739	0.23025	T	0.14984234	0.34141	0.20630753	0.44839	0.14984234	0.34141	0.20630753	0.44838	-7.151	0.55128	T	.	.	0.932	0.86453	P	.;.	.;.	2.171386	0.27671	17.54	0.99258111684314854	0.57121	0.48042	0.28118	N	AEFBCI	0.299817	0.40877	N	-0.352147202336826	0.27193	1.490012	-0.603015465912891	0.19415	1.041559	1.1580317453342E-4	0.05269	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	2.76	1.67	0.23149	-1.716000	0.01978	.	.	0.733000	0.85838	0.000000	0.06391	0.000000	0.08366	0.737000	0.35335	0.7499:0.0:0.2501:0.0	6.024	0.18872	625	0.65529	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.001359	0.002924	0.000000	0.008621	0.015244	0.022727	0.1	3307.14	38	chr19	44132312	.	A	T	3307.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.845;DP=625;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=1.38;SOR=0.712	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,103,1553	8	0	2	0
chr19	44176223	44176223	C	T	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C961T:p.H321Y,ZNF226:NM_001032373:exon6:c.C961T:p.H321Y,ZNF226:NM_001319088:exon6:c.C961T:p.H321Y,ZNF226:NM_001319090:exon6:c.C961T:p.H321Y,ZNF226:NM_001319089:exon7:c.C961T:p.H321Y,ZNF226:NM_016444:exon7:c.C961T:p.H321Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00191142744322	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1045613286	9.577e-06	9.577e-06	5.445e-06	1.375e-05	4.638e-05	5.56e-06	4.35e-06	1.583e-05	9.3e-06	0	0	0	2.519e-05	0	0	5.396e-06	4.967e-05	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.709	0.05544	T	0.602	0.39365	P	0.27	0.39872	B	0.721745	0.09929	N	0.813564	1	0.08975	N	0.47	0.13106	N	2.62	0.12988	T	-1.76	0.41618	N	0.135	0.17553	-1.0357	0.18637	T	0.023	0.09832	T	10	0.07923156	0.12721	T	0.001911	0.03377	T	0.048	0.13305	0.352	0.35084	0.394837016283	0.39092	0.041072785067505474	0.04052	0.0464492927924	0.05053	0.325263917446	0.14217	T	0.023364	0.17850	T	-0.516654	0.00460	T	-0.77726	0.02537	T	0.0669023379589594	0.08209	T	0.184782	0.01911	T	0.027527794	0.01957	0.046466757	0.06484	0.027527794	0.01957	0.046466757	0.06484	-4.185	0.26534	T	.	.	0.075	0.05979	B	.;.;.	.;.;.	0.204754	0.05893	2.331	0.22185248547138245	0.00881	0.11749	0.16837	N	AEFDGBCI	0.062371	0.11986	N	-0.896080508370334	0.10934	0.5250862	-0.978954873402179	0.10258	0.5155132	0.173383940192697	0.17768	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.88	2.84	0.32241	-1.129000	0.03356	.	.	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.1778:0.5481:0.173:0.1012	3.018	0.05699	906	0.23090	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2684.43	214	chr19	44176223	.	C	T	2684.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.617;DP=532;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.689;SOR=0.774	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1096	9	0	1	0
chr19	44386662	44386662	T	C	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.A1118G:p.N373S,ZNF285:NM_001291489:exon4:c.A1583G:p.N528S,ZNF285:NM_152354:exon4:c.A1583G:p.N528S,ZNF285:NM_001291488:exon5:c.A1604G:p.N535S,ZNF285:NM_001291490:exon5:c.A1118G:p.N373S	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00141542308911	.	0.00219649	0.0015	0.0009	0.0007	0.0058	0.0006	0.0013	0.0011	0.0019	0.0013648	211	154602	rs138614800	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0032	0.0030	0.0006	0.0007	0.0002	0.0037	0.0008	0.0005	0.0006	0.0008	0.0018	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0007	0.0026	0.0021	0.0008	0	0.0005	0	0.0039	0.0009	0	0.0008	0.0005	0.0027	.	.	.	0.248	0.23845	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	.	.	.	0.029	0.01203	-0.9240	0.44999	T	0.007	0.02360	T	9	0.0034068823	0.00060	T	0.001415	0.02088	T	0.034	0.08419	.	.	0.0482279557977	0.04254	0.011753991045467467	0.01135	.	.	.	.	.	.	.	.	-0.41856	0.01747	T	-0.839009	0.01114	T	0.000429330163235466	0.00003	T	0.676632	0.28519	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.35456	B	.;.;.	.;.;.	0.920123	0.12949	9.457	0.96089562142337637	0.28679	0.10380	0.15903	N	AEFBI	0.160663	0.28662	N	-1.08584268200692	0.06904	0.3191383	-1.04220910674553	0.08870	0.4382764	9.65829093234977E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.6	0.88	0.18296	-1.134000	0.03340	.	.	0.566000	0.28629	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.1449:0.1134:0.2138:0.528	1.685	0.02669	912	0.21483	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1380.43	44	chr19	44386662	.	T	C	1380.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.489;DP=816;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.28;MQRankSum=-10.04;QD=10.54;ReadPosRankSum=0.71;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800:.	9	0	1	0
chr19	44386663	44386663	T	G	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.A1117C:p.N373H,ZNF285:NM_001291489:exon4:c.A1582C:p.N528H,ZNF285:NM_152354:exon4:c.A1582C:p.N528H,ZNF285:NM_001291488:exon5:c.A1603C:p.N535H,ZNF285:NM_001291490:exon5:c.A1117C:p.N373H	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00101066471441	.	0.00219649	0.0015	0.0009	0.0007	0.0058	0.0006	0.0013	0.0011	0.0019	0.0013648	211	154602	rs148896964	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0032	0.0030	0.0006	0.0007	0.0002	0.0037	0.0008	0.0005	0.0006	0.0008	0.0018	0.0009	0.0009	0.0009	0.0010	0.0039	0.0008	0.0007	0.0026	0.0021	0.0008	0	0.0005	0	0.0039	0.0009	0	0.0008	0.0005	0.0027	.	.	.	0.428	0.13872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.16	0.07711	T	.	.	.	0.053	0.03841	-0.9305	0.44066	T	0.013	0.05321	T	9	0.0035752356	0.00065	T	0.001011	0.01096	T	0.055	0.15663	.	.	0.0551355673512	0.04727	0.019606482775066155	0.01914	.	.	.	.	.	.	.	.	-0.386023	0.02853	T	-0.792272	0.02103	T	0.000133310270030051	0.00001	T	0.0275972	0.00170	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.02927	B	.;.;.	.;.;.	0.504703	0.08736	5.512	0.11405484501887174	0.00170	0.00672	0.02895	N	AEFBI	0.040189	0.05941	N	-0.977769937584768	0.09080	0.4282675	-0.93696322861287	0.11226	0.5706405	1.33638809868785E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	3.6	2.23	0.27189	0.257000	0.18137	.	.	-0.210000	0.08370	0.000000	0.06391	0.000000	0.08366	0.988000	0.63387	0.1506:0.1873:0.2786:0.3835	0.905	0.01201	912	0.21483	.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1352.43	44	chr19	44386663	.	T	G	1352.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.845;DP=815;ExcessHet=0;FS=2.456;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.44;MQRankSum=-9.981;QD=10.4;ReadPosRankSum=1.4;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:86,0:86:99:.:.:0,120,1800:.	9	0	1	0
chr19	44758776	44758776	C	T	exonic	BCL3	.	nonsynonymous SNV	BCL3:NM_005178:exon8:c.C1112T:p.P371L	Leukemia/lymphoma, B-cell, 3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0194240501935	.	0.000199681	1.331e-05	0	0	0	0	0	0	8.576e-05	1.29e-05	2	154602	rs542865146	3.432e-06	4.788e-06	0	6.903e-06	3.519e-05	1.01e-06	7.3e-07	9.35e-06	4.59e-06	0	0	0	0	0	0	0	3.324e-05	3.519e-05	6.576e-06	6.563e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.012	0.63918	D	0.099	0.25639	B	0.027	0.21085	B	0.064017	0.21983	N	0.322384	0.999974	0.18612	N	0.46	0.12951	N	0.98	0.42122	T	-1.48	0.36189	N	0.222	0.24883	-1.0279	0.21136	T	0.067	0.27674	T	10	0.048370898	0.04278	T	0.019424	0.41777	T	0.047	0.12962	0.165	0.06955	0.478074523868	0.47436	0.2791716987174182	0.27830	0.117414492115	0.13229	0.415433883667	0.27207	T	0.187121	0.54062	T	-0.334905	0.05749	T	-0.535453	0.18746	T	0.229865804186128	0.21944	T	0.80172	0.44782	T	0.09141612	0.21421	0.06911029	0.14521	0.09141612	0.21420	0.06911029	0.14521	-4.287	0.27994	T	.	.	0.085	0.10208	B	.	.	2.868804	0.37927	20.6	0.98928590678678341	0.48695	0.27545	0.23307	N	AEFDBCI	0.126801	0.24390	N	-0.587405131620681	0.19327	1.010583	-0.553311953885278	0.20718	1.117512	0.999999185624005	0.74766	0.789315	0.99827	0	0.702456	0.74545	0	0.768056	0.98339	0	0.735409	0.98432	0	.	.	4.15	1.83	0.24279	1.359000	0.33717	.	.	0.545000	0.25583	0.001000	0.13787	0.143000	0.23109	0.569000	0.30626	0.3639:0.4587:0.1774:0.0	6.595	0.21860	645	0.63593	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1357.43	37	chr19	44758776	.	C	T	1357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.139;DP=406;ExcessHet=0;FS=3.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.75;ReadPosRankSum=0.446;SOR=1.027	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1131	9	0	1	0
chr19	44878273	44878273	G	A	exonic	NECTIN2	.	nonsynonymous SNV	NECTIN2:NM_002856:exon6:c.G1093A:p.V365M	.	409	1093	20	0	0	20	0.00906618	.	.	.	2808886	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.150	.	0.0025	0.00399361	0.0102	0	0.0038	0	0.0238	0.0054	0	0.0428	0.0014618	226	154602	rs201037066	0.0038	0.0036	0.0035	0.0041	0.0116	0.0037	0.0037	0.0109	0.0107	0.0006	0.0006	0.0025	5.91e-05	0.0085	0.0040	0.0033	0.0033	0.0116	0.0028	0.0028	0.0024	0.0032	0.0121	0.0026	0.0025	0.0096	0.0087	0.0007	0	0.0010	0.0020	0.0002	0.0071	0.0034	0.0035	0.0005	0.0121	0.054	0.38633	T	0.084	0.41239	T	0.861	0.47410	P	0.173	0.35463	B	.	.	.	.	1	0.81001	D	.	.	.	-0.53	0.70833	T	-1.27	0.31981	N	0.219	0.24510	-0.6000	0.64817	T	0.234	0.60124	T	9	0.008009136	0.00182	T	.	.	.	0.150	0.39571	.	.	0.737711754149	0.73536	.	.	.	.	.	.	.	.	.	.	-0.446057	0.01191	T	-0.404112	0.32908	T	0.0117879295304798	0.00182	T	0.623938	0.24053	T	.	.	.	.	.	.	.	.	-7.608	0.58367	D	.	.	0.223	0.45384	B	.	.	3.629833	0.51407	23.1	0.99887540941415998	0.96204	0.89664	0.50274	D	AEFDBI	0.388972	0.46837	N	0.301856988620212	0.56242	3.789	0.355470249689991	0.58839	4.056976	0.976040442937437	0.29689	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.66	4.63	0.57175	2.479000	0.44857	.	.	0.657000	0.54293	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1701:0.0:0.8299:0.0	8.778	0.33933	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003342	0.000000	0.000000	0.017361	0.000000	0.000000	0.000000	0.010309	0.05	494.43	41	chr19	44878273	.	G	A	494.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.514;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.24;ReadPosRankSum=-1.019;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1147	9	0	1	0
chr19	44892888	44892888	G	A	exonic	TOMM40	.	nonsynonymous SNV	TOMM40:NM_001128917:exon3:c.G394A:p.G132R,TOMM40:NM_001128916:exon4:c.G394A:p.G132R,TOMM40:NM_006114:exon4:c.G394A:p.G132R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.142130106639	.	.	8.315e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs750526666	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.014	0.64786	D	0.999	0.77913	D	0.951	0.71173	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.275	0.90144	M	0.84	0.47477	T	-5.16	0.83422	D	0.846	0.84194	-0.2161	0.77255	T	0.341	0.70648	T	10	0.922724	0.91624	D	0.14213	0.82452	D	0.615	0.84986	0.792	0.91365	0.583166538999	0.57988	.	.	0.208935064865	0.23359	0.765007138252	0.76677	T	0.338988	0.70818	T	0.121078	0.66480	D	0.105272	0.77258	D	0.980931347966373	0.73629	D	0.90231	0.67171	D	0.93511105	0.94751	0.8334214	0.90408	0.93511105	0.94751	0.8334214	0.90409	-14.593	0.94824	D	.	.	0.991	0.95886	P	.;.;.;.;.	.;.;.;.;.	5.820117	0.93695	33	0.99921330901934668	0.98787	0.95035	0.63201	D	AEFBHC	0.928417	0.91259	D	0.740202579240378	0.82265	7.720245	0.654042618046364	0.78912	6.972725	0.999999993550998	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.12	4.06	0.46572	6.157000	0.71647	.	.	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1612:0.8388:0.0	13.258	0.59519	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1410.43	98	chr19	44892888	.	G	A	1410.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.12;DP=670;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-0.339;SOR=0.446	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1231	9	0	1	0
chr19	44942329	44942329	G	A	exonic	APOC4	.	nonsynonymous SNV	APOC4:NM_001646:exon1:c.G52A:p.V18M	.	410	1110	1	1	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	0.0002	0.00698882	0.0053	0	0.0004	0.0392	0.0216	0.0021	0.0167	0.0005	0.0043531	673	154602	rs13306210	0.0021	0.0021	0.0021	0.0021	0.0336	0.0020	0.0020	0.0321	0.0315	0	0.0003	0	0.0336	0.0227	0	0.0003	0.0024	0.0005	0.0031	0.0031	0.0022	0.0041	0.0409	0.0029	0.0028	0.0363	0.0346	2.404e-05	0	0.0003	0	0.0409	0.0205	0	0.0005	0.0019	0.0010	.	.	.	0.013	0.63109	D	0.998	0.73220	D	0.866	0.61580	P	0.610869	0.05700	N	1.286830	1	0.08975	N	1.04	0.26193	L	1.96	0.75789	T	.	.	.	0.413	0.47857	-1.0368	0.18295	T	0.020	0.08500	T	10	0.0046800673	0.00098	T	.	.	.	.	.	.	.	0.690867673639	0.68821	0.13119788472503913	0.13044	.	.	.	.	.	0.364608	0.73016	T	-0.481309	0.00727	T	-0.423164	0.30714	T	0.0635384996668278	0.07714	T	0.60194	0.22516	T	0.01601908	0.00171	0.037269965	0.03346	0.01601908	0.00171	0.037269965	0.03346	-5.693	0.43632	T	.	.	0.242	0.49334	B	.;.;.	.;.;.	-0.168586	0.03255	0.552	0.96280441406628137	0.29279	0.02453	0.06899	N	AEFDBHCI	0.262049	0.37987	N	-0.519758414961375	0.21442	1.137932	-0.796960322257361	0.14570	0.7619345	0.00419112216386002	0.10453	0.487112	0.14033	0	0.491513	0.07743	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	3.25	-1.98	0.07070	-2.896000	0.00774	.	.	0.656000	0.54149	0.000000	0.06391	0.000000	0.08366	0.066000	0.16387	0.2671:0.3942:0.3387:0.0	3.877	0.08566	873	0.30802	.;.;.	.	.	.	.	rs13306210	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1689.43	170	chr19	44942329	.	G	A	1689.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-1.794;SOR=0.662	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1217	9	0	1	0
chr19	45138592	45138592	A	G	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon2:c.A281G:p.K94R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0201002044893	.	0.00119808	0.0029	0	0	0	0	0	0	0.0047	0.0002846	44	154602	rs556098955	0.0004	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	0	0	0	0	0	0	1.581e-05	0.0003	0.0056	0.0001	0.0001	9.167e-05	0.0002	0.0046	9.923e-05	8.411e-05	0.0031	0.0026	2.437e-05	0	0	0	0	0	0	0	0	0.0046	0.246	0.17353	T	0.135	0.34124	T	0.473	0.36591	P	0.1	0.30674	B	0.000027	0.55875	D	0.115163	0.996988	0.43549	D	0.69	0.16971	N	0.62	0.53302	T	-1.38	0.34198	N	0.428	0.46742	-1.0872	0.06013	T	0.082	0.32237	T	10	0.009864211	0.00221	T	0.020	0.42623	T	0.097	0.27909	0.295	0.25881	0.241664281697	0.23763	0.3623328137889258	0.36147	.	.	0.488511919975	0.37232	T	0.008333	0.07654	T	-0.426233	0.01562	T	-0.384078	0.35245	T	0.189226498679949	0.19799	T	0.713029	0.32487	T	0.1488567	0.33964	0.1003509	0.23991	0.1488567	0.33964	0.1003509	0.23991	-6.395	0.49471	T	.	.	0.087	0.11269	B	.	.	4.000348	0.58941	24.0	0.99357701882587957	0.60862	0.98617	0.84749	D	AEFDGBI	0.929003	0.91408	D	0.0106329400120594	0.42338	2.549089	0.116088472383014	0.45372	2.801472	0.999966815252751	0.48965	0.741868	0.97996	0	0.633563	0.54681	0	0.774882	0.98623	0	0.613276	0.41899	0	.	.	4.54	3.5	0.39181	6.882000	0.75391	9.213000	0.79249	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8191:0.1809:0.0:0.0	9.347	0.37276	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001214	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	652.14	35	chr19	45138592	.	A	G	652.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.111;DP=412;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.18;ReadPosRankSum=0.309;SOR=0.636	GT:AD:DP:GQ:PL	0/1:44,18:62:99:304,0,1044	8	0	2	0
chr19	45143599	45143599	C	A	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon8:c.C953A:p.T318K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.24813453289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	.	.	.	.	.	.	0.000001	0.84330	D	0.055039	0.999979	0.53665	D	0.975	0.24501	L	0.42	0.56937	T	-5.08	0.82896	D	0.673	0.68082	-0.4482	0.70460	T	0.303	0.67390	T	8	0.7040319	0.72624	D	0.248135	0.88997	D	0.354	0.67510	0.561	0.68093	0.320256813643	0.31633	0.7913260275057685	0.79084	.	.	0.766764044762	0.76939	T	0.121408	0.44434	T	0.198459	0.73747	D	0.0472964	0.73406	D	0.994463622570038	0.85769	D	0.885311	0.61048	D	0.73083866	0.79771	0.6251771	0.78153	0.73083866	0.79772	0.6251771	0.78154	-15.552	0.97011	D	.	.	0.832	0.78812	P	.	.	5.152047	0.86294	28.9	0.99408513365842832	0.63169	0.91756	0.54196	D	AEFDGBHCI	0.633527	0.61374	D	0.374623414827294	0.60049	4.189881	0.387100998496991	0.60768	4.268279	0.999994444251754	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.714379	0.83352	0	.	.	5.1	4.0	0.45673	4.602000	0.60805	5.879000	0.50621	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:0.8332:0.1668:0.0	12.736	0.56595	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1003.43	34	chr19	45143599	.	C	A	1003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=401;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-1.341;SOR=0.765	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1174	9	0	1	0
chr19	45144962	45144962	C	T	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon9:c.C1096T:p.L366F	.	406	1102	14	0	0	14	0.00631199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.828	.	.	0.00299521	0.0055	0.0018	0.0110	0	0	0.0048	0.0076	0.0061	0.0020828	322	154602	rs146723120	0.0098	0.0093	0.0099	0.0098	0.0113	0.0097	0.0096	0.0111	0.0110	0.0016	0.0026	0.0008	2.801e-05	0.0110	0.0033	0.0113	0.0078	0.0054	0.0077	0.0077	0.0077	0.0076	0.0117	0.0073	0.0072	0.0111	0.0108	0.0022	0.0493	0.0022	0.0006	0.0004	0.0141	0	0.0117	0.0038	0.0072	0.004	0.65419	D	0.086	0.40909	T	.	.	.	.	.	.	0.013611	0.28787	N	0.318910	0.999719	0.48481	D	2.85	0.82803	M	-1.5	0.81318	D	-3.37	0.66665	D	0.868	0.86511	0.031	0.82872	D	0.435	0.77510	T	8	0.013455033	0.00285	T	.	.	.	0.828	0.94541	.	.	0.598116539115	0.59492	0.7204627216306844	0.71989	.	.	0.755184829235	0.75213	T	0.252006	0.62233	T	0.0177854	0.54082	T	0.263159	0.86239	D	0.0185308713044781	0.00569	T	0.905609	0.66735	D	0.30629918	0.53463	0.31038934	0.57050	0.30629918	0.53463	0.31038934	0.57049	-7.431	0.57123	T	.	.	0.875	0.81176	P	.	.	4.347695	0.66745	25.0	0.99879613756968999	0.95572	0.84915	0.44010	D	AEFDBI	0.479137	0.52141	N	0.273710996863994	0.54821	3.64675	0.257900779730125	0.53099	3.480709	0.999716271027713	0.42101	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.66	3.63	0.40741	3.234000	0.51019	3.942000	0.40610	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.972000	0.54974	0.0:0.9035:0.0:0.0965	10.267	0.42637	929	0.16858	.	.	.	.	.	rs146723120	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003326	0.000000	0.000000	0.000000	0.000000	0.000000	0.010417	0.000000	0.05	1279.43	38	chr19	45144962	.	C	T	1279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.283;DP=420;ExcessHet=0;FS=0.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.651;SOR=0.865	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1291,0,891	9	0	1	0
chr19	45145960	45145960	A	C	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon11:c.A1904C:p.N635T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.383450949843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.494	0.11407	T	.	.	.	.	.	.	0.000063	0.52346	D	0.128852	0.674482	0.30335	N	2.125	0.59049	M	-1.19	0.78427	T	-1.67	0.39887	N	0.254	0.28732	-0.0036	0.82181	T	0.494	0.80791	T	10	0.31699622	0.49114	T	0.383451	0.93025	D	0.297	0.61730	0.108	0.01928	0.470318359215	0.46658	0.204325561796925	0.20349	.	.	0.719209909439	0.69931	T	0.008682	0.07952	T	-0.0152207	0.49531	T	-0.25964	0.48860	T	0.909197807312012	0.56402	D	0.767423	0.39577	T	0.14088982	0.32488	0.11177651	0.26964	0.14088982	0.32488	0.11177651	0.26964	-5.133	0.38253	T	.	.	0.377	0.58257	A	.	.	3.288581	0.45089	22.1	0.9954649483533502	0.70836	0.97287	0.73806	D	AEFDBI	0.668651	0.63635	D	0.491995863998126	0.66620	4.973914	0.508507079167324	0.68562	5.237117	0.925024085227782	0.26800	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	5.27	5.27	0.73797	5.944000	0.69931	11.010000	0.84848	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	1.0:0.0:0.0:0.0	11.564	0.50048	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	545.43	33	chr19	45145960	.	A	C	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.94;DP=323;ExcessHet=0;FS=2.843;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.042;SOR=1.201	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	9	0	1	0
chr19	45796039	45796039	G	A	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon6:c.C1984T:p.P662S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.022907408339	.	0.000599042	0.0005	0	8.64e-05	0	0	0	0	0.0037	0.000414	64	154602	rs577242494	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	2.237e-05	0	0	0	0	0	0.0001	0.0037	9.203e-05	9.188e-05	2.572e-05	0.0002	0.0029	5.53e-05	4.367e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.03	0.45393	D	0.007	0.69154	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.613011	0.32638	D	2.39	0.68882	M	1.75	0.26152	T	-6.37	0.91058	D	0.722	0.74280	-0.6448	0.62940	T	0.155	0.48550	T	10	0.05384752	0.05640	T	0.022907	0.45838	T	0.271	0.58633	0.653	0.79068	0.246773566709	0.24272	0.716266081504198	0.71569	0.478316878913	0.46915	0.49934720993	0.38736	T	0.207589	0.56728	T	-0.401312	0.02270	T	-0.350071	0.39196	T	0.14916477342403	0.17036	T	0.638636	0.25495	T	0.4274042	0.62582	0.4804461	0.69910	0.4274042	0.62582	0.4804461	0.69911	-6.493	0.50232	T	.	.	0.311	0.53838	B	.;.	.;.	4.513395	0.70700	25.6	0.99903144355144935	0.97426	0.95662	0.65626	D	AEFI	0.794929	0.72249	D	0.699307618809292	0.79585	7.109213	0.641185947001469	0.77957	6.78021	0.999999123276188	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	4.25	0.49658	6.193000	0.71999	9.627000	0.81118	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	14.616	0.68148	769	0.49307	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2204.14	33	chr19	45796039	.	G	A	2204.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2;DP=449;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=2.09;SOR=0.674	GT:AD:DP:GQ:PL	0/1:31,38:69:99:985,0,629	8	0	2	0
chr19	45815053	45815053	C	T	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon1:c.G124A:p.E42K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00678813160548	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs779379990	5.817e-05	5.814e-05	3.54e-05	8.116e-05	0.0009	4.811e-05	4.433e-05	0.0008	0.0007	0	0	0	0	3.781e-05	0	0	3.312e-05	0.0009	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.039	0.42487	D	0.452	0.16280	T	0.421	0.35387	B	0.055	0.25995	B	0.002003	0.00849	N	3.707800	1	0.08975	N	0.975	0.24501	L	2.38	0.19860	T	-0.76	0.21215	N	0.265	0.33904	-1.0284	0.20973	T	0.029	0.12453	T	10	0.017505616	0.00374	T	0.006788	0.17953	T	0.041	0.10877	0.145	0.04843	0.115124310173	0.11017	0.27755270705073937	0.27668	0.114985143858	0.12974	0.442571520805	0.30929	T	0.018614	0.14973	T	-0.554336	0.00275	T	-0.60442	0.12442	T	0.0553966191110962	0.06423	T	0.650635	0.26150	T	0.054562982	0.10487	0.0848366	0.19544	0.054562982	0.10486	0.0848366	0.19544	-5.201	0.38952	T	.	.	0.095	0.23325	B	.;.	.;.	1.819098	0.23114	15.89	0.99366227593854295	0.61240	0.12132	0.17079	N	AEFDBCI	0.067628	0.13304	N	-0.762410070206934	0.14298	0.7111056	-0.835302361159191	0.13641	0.7087477	0.99997156411594	0.50053	0.421363	0.06395	0	0.550933	0.16991	0	0.179345	0.04352	3	0.554799	0.18163	0	.	.	3.94	1.74	0.23636	1.500000	0.35290	0.782000	0.21490	0.599000	0.40250	0.010000	0.18352	0.001000	0.17328	0.126000	0.19410	0.238:0.6386:0.0:0.1234	3.998	0.09056	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1762.14	35	chr19	45815053	.	C	T	1762.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.435;DP=449;ExcessHet=0.2348;FS=1.235;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.534;SOR=0.574	GT:AD:DP:GQ:PL	0/1:49,42:91:99:948,0,1295	8	0	2	0
chr19	46704589	46704589	G	A	exonic	PRKD2	.	nonsynonymous SNV	PRKD2:NM_001079882:exon3:c.C101T:p.A34V,PRKD2:NM_016457:exon4:c.C572T:p.A191V,PRKD2:NM_001079880:exon5:c.C572T:p.A191V,PRKD2:NM_001079881:exon5:c.C572T:p.A191V	.	423	1089	10	0	0	10	0.00457038	.	.	.	3203962	PRKD2-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.204	0.0256358216951	0.0008	0.000599042	0.0011	0	0.0004	0	0	0.0013	0	0.0027	0.0009896	153	154602	rs144404837	0.0010	0.0010	0.0009	0.0011	0.0045	0.0010	0.0010	0.0032	0.0027	0.0001	0.0006	0.0044	2.519e-05	5.62e-05	0.0045	0.0009	0.0014	0.0025	0.0009	0.0009	0.0008	0.0010	0.0013	0.0008	0.0007	0.0011	0.0010	0.0002	0	0.0009	0.0049	0	0	0.0034	0.0013	0.0024	0.0008	1.0	0.00964	T	0.855	0.03945	T	0.003	0.11197	B	0.015	0.17295	B	0.001758	0.38106	N	0.162744	0.999309	0.46608	D	-0.46	0.02758	N	-0.03	0.92560	T	-0.33	0.12472	N	0.131	0.12627	-0.9968	0.30810	T	0.100	0.37085	T	10	0.009878814	0.00222	T	0.025636	0.48598	D	0.204	0.49076	.	.	0.71007069086	0.70753	0.5638156347126245	0.56308	1.71216609492	0.90455	0.750138163567	0.74467	T	0.209326	0.56952	T	-0.239222	0.15449	T	-0.121018	0.61720	T	0.035997201792016	0.02980	T	0.837116	0.50934	T	0.07590912	0.17133	0.16023646	0.37331	0.07590912	0.17132	0.16023646	0.37330	-7.243	0.57631	T	0.08714391335082297	0.05089	0.119	0.43338	B	.;.;.;.;.;.	.;.;.;.;.;.	3.613999	0.51109	23.0	0.92824869533502874	0.22355	0.59092	0.30820	D	ALL	0.291573	0.40267	N	-0.41376785263946	0.24986	1.353083	-0.160875210951204	0.32992	1.882591	0.999999999981396	0.74766	0.77792	0.99625	0	0.779548	0.99637	0	0.854111	0.99894	0	0.756233	0.99697	0	.	.	5.4	5.4	0.77957	3.368000	0.52084	9.742000	0.81438	0.511000	0.23309	0.999000	0.42656	1.000000	0.68203	0.979000	0.57723	0.0841:0.0:0.9159:0.0	11.453	0.49407	929	0.16858	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003024	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.007576	0.05	671.43	33	chr19	46704589	.	G	A	671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.003;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-0.121;SOR=0.754	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr19	46722813	46722813	T	G	exonic	STRN4	.	nonsynonymous SNV	STRN4:NM_001039877:exon14:c.A1924C:p.S642R,STRN4:NM_013403:exon14:c.A1903C:p.S635R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0556821470172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.30800	T	0.257	0.23231	T	0.937	0.52445	P	0.4	0.44481	B	0.000003	0.62929	D	0.104196	0.987904	0.40670	D	1.87	0.49600	L	-0.2	0.66113	T	-1.48	0.42001	N	0.249	0.40264	-0.8486	0.52065	T	0.139	0.45715	T	10	0.17901903	0.33015	T	0.055682	0.66325	D	0.221	0.51721	0.329	0.31357	0.271610670623	0.26767	0.23132193971189838	0.23047	0.574447789344	0.53476	0.509414970875	0.40140	T	0.028227	0.20494	T	-0.00540614	0.50908	T	-0.245542	0.50257	T	0.783340811729431	0.45260	D	0.825517	0.48813	T	0.23014061	0.45764	0.1973257	0.43509	0.23014061	0.45764	0.1973257	0.43508	-7.439	0.57180	T	.	.	0.280	0.52052	B	.;.;.	.;.;.	3.281533	0.44963	22.0	0.9959222493415667	0.73690	0.76359	0.37444	D	AEFDBCI	0.463482	0.51238	N	-0.0605444532853647	0.39132	2.302845	0.0210565242209879	0.40694	2.432728	0.999999955780788	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.29	5.29	0.74430	1.816000	0.38630	4.976000	0.46431	0.665000	0.62972	0.945000	0.32849	1.000000	0.68203	0.914000	0.44937	0.0:0.0:0.0:1.0	11.621	0.50378	929	0.16858	WD40-repeat-containing domain;.;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1189.43	33	chr19	46722813	.	T	G	1189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.606;DP=394;ExcessHet=0;FS=2.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=2;SOR=0.938	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr19	46777006	46777006	T	G	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon6:c.A751C:p.I251L,SLC1A5:NM_001145144:exon7:c.A673C:p.I225L,SLC1A5:NM_005628:exon7:c.A1357C:p.I453L	.	411	1069	41	1	0	43	0.0197157	.	.	.	705105	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0085	0.00259585	0.0075	0.0014	0.0041	0	0.0012	0.0108	0.0100	0.0065	0.0074967	1159	154602	rs79376478	0.0086	0.0086	0.0085	0.0087	0.0163	0.0085	0.0084	0.0136	0.0126	0.0015	0.0045	0.0239	2.519e-05	0.0017	0.0163	0.0094	0.0085	0.0068	0.0061	0.0061	0.0064	0.0058	0.0095	0.0058	0.0056	0.0089	0.0087	0.0015	0	0.0037	0.0245	0	0.0017	0.0170	0.0095	0.0095	0.0062	0.202	0.20230	T	0.227	0.26883	T	0.005	0.12996	B	0.019	0.18783	B	0.000078	0.52346	N	0.168732	0.984442	0.41804	D	0.825	0.20901	L	0.3	0.58755	T	-1.27	0.31981	N	0.23	0.26596	-1.0443	0.16030	T	0.087	0.33718	T	10	0.009442538	0.00213	T	.	.	.	0.062	0.17934	.	.	0.517047913619	0.51347	0.8662070877696606	0.86585	0.62724228678	0.56829	0.394909203053	0.24359	T	0.124516	0.44960	T	-0.488867	0.00659	T	-0.467039	0.25835	T	0.0100967667990245	0.00136	T	0.837116	0.50934	T	0.15600532	0.35229	0.106057376	0.25506	0.15600532	0.35229	0.106057376	0.25505	-4.657	0.41700	T	.	.	0.089	0.16582	B	.;.;.;.	.;.;.;.	1.876225	0.23830	16.17	0.96731452154264008	0.30888	0.86232	0.45473	D	AEFDBHCI	0.404100	0.47752	N	-0.41891105816171	0.24806	1.342061	-0.250921610411475	0.29741	1.66865	0.999994424925588	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.59	0.56297	1.814000	0.38610	4.342000	0.43061	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.508000	0.29198	0.0:0.0:0.1779:0.8221	12.044	0.52767	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012601	0.010101	0.016304	0.002924	0.000000	0.008621	0.018293	0.019084	0.05	846.43	34	chr19	46777006	.	T	G	846.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=391;ExcessHet=0;FS=0.86;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-1.811;SOR=0.804	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1110	9	0	1	0
chr19	46782545	46782545	G	C	exonic	SLC1A5	.	nonsynonymous SNV	SLC1A5:NM_001145145:exon3:c.C56G:p.P19R,SLC1A5:NM_005628:exon4:c.C662G:p.P221R	.	427	1092	3	0	0	3	0.00137174	.	.	.	3214267	SLC1A5-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.255	0.0768672815685	0.0022	0.000998403	0.0020	0.0006	0.0010	0	0.0002	0.0027	0.0022	0.0029	0.0021022	325	154602	rs140908383	0.0027	0.0027	0.0027	0.0027	0.0031	0.0026	0.0026	0.0031	0.0030	0.0002	0.0006	3.826e-05	0	0.0005	0.0026	0.0031	0.0019	0.0031	0.0018	0.0019	0.0019	0.0018	0.0031	0.0017	0.0016	0.0027	0.0026	0.0007	0	0.0015	0	0.0002	0.0003	0	0.0031	0.0024	0.0023	0.05	0.39575	D	0.057	0.46406	T	0.031	0.20130	B	0.114	0.31755	B	.	.	.	.	0.700633	0.81001	D	2.135	0.59519	M	0.58	0.71543	T	-5.12	0.86073	D	0.719	0.87157	-0.9299	0.44153	T	0.159	0.49296	T	9	0.050892085	0.04889	T	0.076867	0.72635	D	0.255	0.56562	.	.	0.866366014938	0.86506	0.8064361160471855	0.80598	0.685980076296	0.60309	0.549354553223	0.45767	T	0.395609	0.75445	T	-0.234837	0.16013	T	-0.107769	0.62789	T	0.133869610420539	0.15735	T	0.777022	0.40965	T	0.18600923	0.39990	0.23905762	0.49245	0.18600923	0.39989	0.23905762	0.49244	-4.254	0.40425	T	.	.	0.129	0.56933	B	.;.;.	.;.;.	2.537396	0.32816	19.16	0.95137448044191542	0.26256	0.98593	0.84474	D	AEFBHCI	0.892414	0.82932	D	-0.369517364913626	0.26561	1.450529	-0.3600786081502	0.26198	1.445537	0.999999989571933	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.696144	0.63334	0	0.714379	0.83352	0	.	.	4.77	2.6	0.30173	7.584000	0.81862	4.807000	0.45013	0.647000	0.52776	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0827:0.0:0.7642:0.1531	8.546	0.32580	917	0.20147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	1891.14	89	chr19	46782545	.	G	C	1891.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.348;DP=456;ExcessHet=0.2348;FS=4.732;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.127;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1017	8	0	2	0
chr19	47041046	47041046	C	T	exonic	NPAS1	.	nonsynonymous SNV	NPAS1:NM_001321086:exon6:c.C563T:p.A188V	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0130399152142	.	.	0.0001	0	0	0	0.0009	0.0002	0	0	7.76e-05	12	154602	rs758940170	7.39e-05	7.867e-05	6.78e-05	8.01e-05	0.0009	6.231e-05	5.809e-05	0.0003	0.0002	0	0	0	0	0.0006	0.0009	5.723e-05	8.423e-05	6.131e-05	0.0001	0.0001	8.994e-05	0.0001	8.821e-05	6.514e-05	5.325e-05	3.762e-05	2.575e-05	0	0	0	0	0	0.0008	0.0032	8.821e-05	0.0005	0	0.538	0.06847	T	0.54	0.09760	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.92	0.44461	T	0.34	0.03824	N	0.27	0.30574	-1.0324	0.19681	T	0.057	0.23980	T	8	0.027771652	0.00918	T	0.01304	0.32127	T	0.063	0.18251	0.29	0.25081	0.425142668821	0.42132	.	.	.	.	.	.	.	.	.	.	-0.183067	0.23281	T	-0.375596	0.36237	T	0.0204383887940936	0.00744	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	-4.225	0.27112	T	.	.	0.138	0.32969	B	.;.	.;.	1.136714	0.15237	11.70	0.95869146670694583	0.28041	0.81866	0.41186	D	AEFBHCI	0.103743	0.20776	N	-0.61421798050443	0.18516	0.9619678	-0.490616327307722	0.22411	1.217114	0.996171598466527	0.34572	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	5.03	3.99	0.45527	1.104000	0.30687	2.587000	0.33447	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.9042:0.0:0.0958	9.901	0.40518	917	0.20147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	994.43	34	chr19	47041046	.	C	T	994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.464;DP=388;ExcessHet=0;FS=1.81;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.866;SOR=0.929	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	9	0	1	0
chr19	47725925	47725925	G	A	exonic	EHD2	.	nonsynonymous SNV	EHD2:NM_014601:exon4:c.G616A:p.A206T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.772	0.341854372435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.41364	D	0.133	0.41074	T	0.939	0.52645	P	0.611	0.51118	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.395	0.35261	L	-3.69	0.95317	D	-2.84	0.63323	D	0.655	0.67218	0.729	0.93532	D	0.821	0.93980	D	10	0.69782674	0.72255	D	0.341854	0.92036	D	0.772	0.92336	0.405	0.43738	0.738570925959	0.73623	0.8039836876037527	0.80352	0.793696552197	0.65932	0.713210105896	0.69058	T	0.708883	0.91680	D	0.215432	0.75344	D	0.0716774	0.75023	D	0.974225103855133	0.70419	D	0.986501	0.95398	D	0.4618836	0.64788	0.43320188	0.66881	0.4618836	0.64788	0.43320188	0.66881	-8.461	0.67600	D	.	.	0.179	0.46179	B	.;.	.;.	4.649478	0.74094	26.1	0.9991327098802012	0.98238	0.96558	0.69741	D	AEFDGBHI	0.756293	0.69560	D	0.403867492454189	0.61634	4.367228	0.382804446641032	0.60504	4.238809	0.999999999999917	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.0	0.00061	3	0.711	0.71501	0	.	.	3.66	3.66	0.41111	7.948000	0.87248	11.614000	0.93566	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.805000	0.37950	0.0:0.0:1.0:0.0	13.284	0.59666	796	0.45353	Dynamin-type guanine nucleotide-binding (G) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2290.43	33	chr19	47725925	.	G	A	2290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.439;DP=546;ExcessHet=0;FS=0.496;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=0.395;SOR=0.76	GT:AD:DP:GQ:PL	0/1:121,99:220:99:2302,0,2788	9	0	1	0
chr19	47780906	47780906	C	T	exonic	SELENOW	.	unknown	UNKNOWN	.	421	1091	9	1	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0002	0.0253594	0.0100	0.0006	0.0007	0.1208	0.0019	0.0010	0.0060	0.0031	0.0090296	1396	154602	rs80333860	0.0042	0.0042	0.0043	0.0041	0.1184	0.0041	0.0041	0.1156	0.1144	0.0004	0.0004	0.0015	0.1184	0.0018	0.0021	0.0005	0.0072	0.0036	0.0048	0.0049	0.0042	0.0055	0.1215	0.0045	0.0044	0.1135	0.1104	0.0004	0	0.0009	0.0012	0.1215	0.0008	0	0.0006	0.0052	0.0050	0.054	0.38633	T	0.059	0.46182	T	0.0	0.02946	B	0.0	0.01387	B	0.918827	0.08501	N	0.961651	0.999999	0.08975	N	.	.	.	0.94	0.43672	T	-0.18	0.09796	N	0.278	0.32591	-1.0375	0.18078	T	0.001	0.00438	T	9	0.0016022921	0.00019	T	.	.	.	0.037	0.09474	.	.	0.134241683229	0.13084	.	.	0.0979953761928	0.11061	0.443825602531	0.31099	T	0.015291	0.14613	T	-0.650431	0.00072	T	-0.599954	0.12816	T	0.0146846796753103	0.00305	T	0.178882	0.01767	T	0.04818381	0.08357	0.05038276	0.07897	0.04818381	0.08356	0.05038276	0.07896	.	.	.	.	.	0.056	0.01367	B	.;.;.;.;.	.;.;.;.;.	1.235350	0.16305	12.45	0.95245460720698705	0.26495	0.03834	0.09181	N	AEFDBCI	0.175896	0.30309	N	-1.07627306900191	0.07082	0.3279762	-1.13093928832153	0.07115	0.344888	0.999903079962271	0.45458	0.744818	0.98587	0	0.732433	0.95613	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.27	-3.89	0.03916	-0.055000	0.11763	-0.328000	0.09912	-1.689000	0.00774	0.269000	0.25036	0.000000	0.08366	0.031000	0.13245	0.0:0.7264:0.0:0.2736	11.183	0.47869	906	0.23090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	2242.43	144	chr19	47780906	.	C	T	2242.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.66;DP=494;ExcessHet=0;FS=5.135;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.57;ReadPosRankSum=1.16;SOR=1.166	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr19	47802409	47802409	A	C	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.T602G:p.V201G	.	.	.	.	.	.	.	.	.	.	.	2735427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00423765404556	.	.	5.469e-05	0	0	0	0	0.0001	0	0	7.68e-05	2	26028	rs200748871	4.503e-05	8.003e-05	4.636e-05	4.367e-05	0.0002	3.464e-05	3.126e-05	0.0001	7.873e-05	4.244e-05	3.507e-05	5.33e-05	0.0002	9.673e-05	0	2.575e-05	8.983e-05	0.0002	0.0004	0.0009	0.0003	0.0004	0.0016	0.0003	0.0002	0.0005	0.0003	0.0006	0	0.0003	0	0.0016	0	0	0.0002	0	0.0005	0.571	0.09430	T	0.388	0.22494	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	1.0	0.41392	T	0.96	0.04091	N	0.034	0.07949	-1.0325	0.19650	T	0.038	0.16246	T	8	0.017377675	0.00371	T	0.004238	0.10247	T	0.016	0.02506	.	.	0.0401082797425	0.02173	0.11663670961732966	0.11591	0.0772875809066	0.08693	0.31706649065	0.12976	T	0.009287	0.08464	T	-0.55859	0.00259	T	-0.732736	0.04205	T	0.00423360126837781	0.00045	T	0.0366963	0.00254	T	0.048329886	0.08406	0.12003961	0.28972	0.048329886	0.08406	0.12003961	0.28971	2.341	0.00038	T	.	.	0.055	0.00390	B	.;.;.	.;.;.	-0.794307	0.01118	0.051	0.20255595652771158	0.00720	0.00032	0.00291	N	AEFDBI	0.017397	0.00453	N	-2.10881371858474	0.00122	0.005240635	-2.18713165531064	0.00120	0.005257149	0.0455254057432558	0.14655	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	0.401	-0.802	0.10340	-2.510000	0.01035	-4.269000	0.02247	-3.175000	0.00114	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.019576	0.018750	0.027473	0.019084	0.000000	0.020000	0.017699	0.013699	0.05	900.43	47	chr19	47802409	.	A	C	900.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.94;DP=407;ExcessHet=0;FS=2.499;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.16;ReadPosRankSum=0.462;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,992:.	9	0	1	0
chr19	48062060	48062060	G	A	exonic	PLA2G4C	.	nonsynonymous SNV	PLA2G4C:NM_001159322:exon14:c.C1225T:p.P409S,PLA2G4C:NM_001159323:exon14:c.C1195T:p.P399S,PLA2G4C:NM_003706:exon14:c.C1195T:p.P399S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00672958649144	0.0015	0.00259585	0.0004	0.0046	0.0002	0	0	1.502e-05	0	6.161e-05	0.0004334	67	154602	rs148052871	0.0002	0.0002	0.0002	0.0001	0.0061	0.0002	0.0002	0.0054	0.0051	0.0061	0.0003	3.827e-05	2.521e-05	0	0.0009	9.893e-06	0.0004	1.16e-05	0.0018	0.0018	0.0018	0.0018	0.0060	0.0016	0.0016	0.0054	0.0052	0.0060	0	0.0014	0.0003	0	0	0	1.47e-05	0.0009	0	0.202	0.20230	T	0.615	0.07617	T	0.004	0.12183	B	0.002	0.06944	B	0.756130	0.06513	U	1.141090	0.999999	0.08975	N	0.955	0.23872	L	3.12	0.08106	T	-2.31	0.51319	N	0.101	0.08366	-0.9494	0.41075	T	0.009	0.03315	T	10	0.009972185	0.00223	T	0.00673	0.17784	T	0.045	0.12272	.	.	0.268660756437	0.26461	0.40475419626142306	0.40391	0.0982251182252	0.11086	0.476905494928	0.35630	T	0.002951	0.23589	T	-0.607661	0.00131	T	-0.643167	0.09440	T	0.0079400527196051	0.00094	T	0.430857	0.14839	T	0.057396073	0.11417	0.062701546	0.12309	0.057396073	0.11417	0.062701546	0.12308	-6.801	0.52567	T	.	.	0.426	0.61004	A	.;.;.;.	.;.;.;.	0.669049	0.10374	7.101	0.94011673416395058	0.24113	0.16448	0.19394	N	AEFDBHCI	0.059844	0.11331	N	-0.951250223009228	0.09664	0.4584008	-0.959725776874871	0.10698	0.5404766	0.999999971842046	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.52208	0.10781	0	0.613276	0.41899	0	.	.	2.79	0.352	0.15287	2.263000	0.42950	0.762000	0.21323	-0.447000	0.05153	0.983000	0.35670	0.999000	0.35428	0.026000	0.12556	0.1418:0.0:0.6282:0.23	3.905	0.08679	609	0.67094	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1090.43	38	chr19	48062060	.	G	A	1090.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.318;DP=420;ExcessHet=0;FS=0.836;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.66;SOR=0.883	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1294	9	0	1	0
chr19	48121298	48121298	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon22:c.G2053A:p.V685M,LIG1:NM_001289063:exon23:c.G2164A:p.V722M,LIG1:NM_001320971:exon23:c.G2167A:p.V723M,LIG1:NM_000234:exon24:c.G2257A:p.V753M,LIG1:NM_001320970:exon24:c.G2254A:p.V752M	DNA ligase I deficiency (3)	402	1073	44	3	0	50	0.0227687	.	.	.	705135	not_provided|LIG1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.267	.	0.0045	0.00519169	0.0072	0.0013	0.0075	0.0004	0.0027	0.0099	0.0081	0.0049	0.0067658	1046	154602	rs146309259	0.0075	0.0075	0.0076	0.0074	0.0282	0.0074	0.0074	0.0247	0.0233	0.0010	0.0069	0.0111	0.0003	0.0031	0.0282	0.0082	0.0086	0.0043	0.0063	0.0063	0.0065	0.0060	0.0091	0.0059	0.0058	0.0085	0.0082	0.0018	0.0724	0.0059	0.0112	0.0006	0.0018	0.0374	0.0091	0.0066	0.0044	0.052	0.39097	T	0.044	0.76473	D	0.254	0.77913	B	0.034	0.64984	B	0.000049	0.53742	D	0.121396	0.999997	0.81001	D	0.21	0.09513	N	0.48	0.57729	T	-2.72	0.57920	D	0.544	0.57092	-0.8443	0.52359	T	0.162	0.49748	T	10	0.009888917	0.00222	T	.	.	.	0.267	0.58126	.	.	0.486707162081	0.48303	0.6877962717568229	0.68719	0.52801659779	0.50392	0.702495098114	0.67505	T	0.564074	0.85457	D	-0.329051	0.06184	T	-0.232462	0.51533	T	0.0459140205099629	0.04768	T	0.989301	0.96474	D	0.16692582	0.37058	0.09929493	0.23703	0.16692582	0.37057	0.09929493	0.23703	-10.761	0.85868	D	.	.	0.132	0.34754	B	.;.;.;.	.;.;.;.	3.443177	0.47909	22.5	0.99730661908994123	0.82761	0.93628	0.58739	D	AEFDBI	0.624604	0.60811	D	-0.16406644344385	0.34637	1.979539	-0.107215287758839	0.35099	2.026604	0.99999999158571	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	5.29	4.25	0.49658	5.365000	0.65866	1.025000	0.23435	-0.218000	0.08083	1.000000	0.71638	0.467000	0.25033	0.218000	0.22407	0.1579:0.8421:0.0:0.0	13.463	0.60692	846	0.36215	DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central;.;.	.	.	.	.	rs146309259	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.010101	0.028533	0.026316	0.050000	0.025862	0.021341	0.015152	0.05	621.43	34	chr19	48121298	.	C	T	621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.7;DP=288;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.8;ReadPosRankSum=0.049;SOR=0.38	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,513	9	0	1	0
chr19	48123309	48123309	G	A	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon20:c.C1810T:p.R604C,LIG1:NM_001289063:exon21:c.C1921T:p.R641C,LIG1:NM_001320971:exon21:c.C1924T:p.R642C,LIG1:NM_000234:exon22:c.C2014T:p.R672C,LIG1:NM_001320970:exon22:c.C2011T:p.R671C	DNA ligase I deficiency (3)	422	1099	1	0	0	1	0.000454752	.	.	.	1347348	not_provided|Immunodeficiency_96	MedGen:C3661900|MONDO:MONDO:0030693,MedGen:C5676930,OMIM:619774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.598	0.0969984534884	0.0005	0.000199681	0.0002	9.897e-05	0	0	0.0002	0.0003	0	0.0001	0.0001876	29	154602	rs55950593	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0003	0.0003	5.974e-05	2.236e-05	0	5.038e-05	1.894e-05	0.0007	0.0003	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	6.535e-05	0	0	0	0.0034	0.0004	0.0014	0	0.002	0.72154	D	0.01	0.70582	D	0.999	0.90584	D	0.893	0.65739	P	0.000002	0.62929	D	0.060149	1	0.81001	D	3.555	0.93317	H	-1.53	0.81559	D	-5.92	0.88963	D	0.546	0.58629	0.482	0.90296	D	0.679	0.88903	D	10	0.50501317	0.61767	D	0.096998	0.76699	D	0.598	0.84074	.	.	0.846800510397	0.84533	0.3703831264285899	0.36952	1.08646876882	0.77298	0.604157567024	0.53492	T	0.748744	0.93098	D	0.0191525	0.54267	T	0.0986023	0.76816	D	0.913288116455078	0.56950	D	0.977202	0.93576	D	0.7803998	0.82678	0.5671814	0.74945	0.7803998	0.82680	0.5671814	0.74945	-10.951	0.81027	D	.	.	0.124	0.29200	B	.;.;.;.	.;.;.;.	5.628418	0.92656	32	0.99943225451266759	0.99848	0.89343	0.49750	D	AEFBI	0.403335	0.47706	N	0.696412663512058	0.79398	7.069019	0.60249595135458	0.75120	6.254853	0.999978676157658	0.50053	0.730579	0.87903	0	0.702456	0.74545	0	0.743671	0.96076	0	0.648885	0.59868	0	.	.	5.06	5.06	0.67838	3.495000	0.53043	9.619000	0.81102	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8196:0.1804	11.423	0.49239	846	0.36215	DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;DNA ligase, ATP-dependent, central|DNA ligase, ATP-dependent, central;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	545.43	33	chr19	48123309	.	G	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.854;DP=360;ExcessHet=0;FS=2.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.5;SOR=0.357	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1031	9	0	1	0
chr19	48140013	48140013	C	T	exonic	LIG1	.	nonsynonymous SNV	LIG1:NM_001289064:exon10:c.G841A:p.V281M,LIG1:NM_001289063:exon11:c.G952A:p.V318M,LIG1:NM_001320971:exon11:c.G955A:p.V319M,LIG1:NM_000234:exon12:c.G1045A:p.V349M,LIG1:NM_001320970:exon12:c.G1042A:p.V348M	DNA ligase I deficiency (3)	415	1099	7	1	0	9	0.00407793	.	.	.	1158606	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.103	.	0.0022	0.00199681	0.0033	9.639e-05	0.0004	0	0.0136	0.0032	0.0077	0.0050	0.0029689	459	154602	rs3730947	0.0027	0.0027	0.0026	0.0028	0.0055	0.0026	0.0026	0.0051	0.0049	0.0002	0.0004	0.0095	0	0.0153	0.0016	0.0020	0.0028	0.0055	0.0028	0.0028	0.0021	0.0035	0.0054	0.0026	0.0025	0.0038	0.0032	0.0006	0	0.0005	0.0101	0.0002	0.0165	0	0.0022	0.0019	0.0054	0.001	0.78490	D	0.002	0.79402	D	0.994	0.66517	D	0.816	0.58888	P	0.045139	0.23568	N	0.447839	0.759073	0.34017	D	2.135	0.59519	M	2.13	0.19588	T	-2.28	0.50830	N	0.386	0.47672	-0.9917	0.32167	T	0.058	0.24502	T	10	0.014671981	0.00308	T	.	.	.	0.103	0.29403	.	.	0.440394187108	0.43661	0.5568665366148533	0.55613	0.80779589675	0.66579	0.355817586184	0.18775	T	0.225735	0.59056	T	-0.435523	0.01374	T	-0.396595	0.33782	T	0.0345920890856649	0.02739	T	0.98999	0.96889	D	0.46690133	0.65099	0.4419109	0.67459	0.46690133	0.65100	0.4419109	0.67459	-9.456	0.72857	D	.	.	0.171	0.51703	B	.;.;.;.	.;.;.;.	2.513593	0.32468	19.05	0.99762343674211051	0.85172	0.08890	0.14750	N	AEFGBI	0.031938	0.03514	N	-0.122491504024009	0.36413	2.104502	-0.276718362843338	0.28866	1.612848	4.2750514314573E-4	0.06935	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	1.55	0.22356	0.416000	0.20918	1.646000	0.27819	0.599000	0.40250	0.092000	0.22623	0.925000	0.28409	0.825000	0.38878	0.0:0.6204:0.0:0.3796	7.081	0.24408	846	0.36215	DNA ligase, ATP-dependent, N-terminal;DNA ligase, ATP-dependent, N-terminal;.;.	.	.	.	.	rs3730947	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.000000	0.004076	0.002924	0.050000	0.000000	0.012195	0.011364	0.05	2421.43	38	chr19	48140013	.	C	T	2421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.5;DP=597;ExcessHet=0;FS=0.516;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.934;SOR=0.649	GT:AD:DP:GQ:PL	0/0:54,0:54:99:0,120,1800	9	0	1	0
chr19	48195621	48195621	G	T	exonic	ZSWIM9	.	nonsynonymous SNV	ZSWIM9:NM_199341:exon4:c.G1557T:p.Q519H	.	405	1096	20	1	0	22	0.00993677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	.	.	0.000998403	0.0089	0.0099	0	0	0	0.0113	0	0	0.0012872	199	154602	rs141761031	0.0068	0.0063	0.0068	0.0069	0.0088	0.0067	0.0067	0.0072	0.0072	0.0009	0.0054	0.0142	3.132e-05	0.0016	0.0088	0.0074	0.0072	0.0045	0.0049	0.0049	0.0053	0.0044	0.0075	0.0046	0.0045	0.0069	0.0067	0.0017	0.0143	0.0042	0.0150	0	0.0010	0.0204	0.0075	0.0019	0.0027	0.246	0.17353	T	0.122	0.41239	T	0.004	0.12183	B	0.004	0.10090	B	0.334267	0.04149	N	1.567960	1	0.08975	N	.	.	.	.	.	.	-0.4	0.13805	N	0.102	0.18376	-1.0534	0.13466	T	0.040	0.17191	T	9	0.00380525	0.00071	T	.	.	.	0.005	0.00259	0.353	0.35246	0.0138822411134	0.00435	0.06381303198711097	0.06320	.	.	.	.	.	0.016713	0.13762	T	-0.61782	0.00113	T	-0.653409	0.08717	T	0.00163488460081814	0.00017	T	0.508649	0.16166	T	0.04801557	0.08301	0.035852104	0.02916	0.04801557	0.08300	0.035852104	0.02915	-5.667	0.43399	T	.	.	0.178	0.46002	B	.;.	.;.	-0.297818	0.02627	0.330	0.89131792795174947	0.18537	0.06455	0.12462	N	AEFDBCI	0.056442	0.10434	N	-1.39042873836555	0.02727	0.1208298	-1.50786003231585	0.02283	0.1047612	0.972593993847761	0.29384	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.55	-7.11	0.01389	-1.360000	0.02706	-1.309000	0.05753	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.2161:0.314:0.3627:0.1072	2.421	0.04177	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1298.43	129	chr19	48195621	.	G	T	1298.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.373;DP=456;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-1.036;SOR=0.788	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1052	9	0	1	0
chr19	48297304	48297304	A	G	exonic	CCDC114	.	nonsynonymous SNV	CCDC114:NM_144577:exon14:c.T1685C:p.F562S,CCDC114:NM_001364171:exon16:c.T1796C:p.F599S	Ciliary dyskinesia, primary, 20, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	847809	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.0474610487581	0.0008	.	0.0002	0.0018	0	0	0	0	0	0	0.0001229	19	154602	rs144225230	4.995e-05	4.994e-05	5.991e-05	3.989e-05	0.0018	4.06e-05	3.735e-05	0.0014	0.0013	0.0018	4.472e-05	0	0	0	0	8.993e-07	0.0001	1.159e-05	0.0006	0.0006	0.0006	0.0006	0.0020	0.0005	0.0005	0.0016	0.0015	0.0020	0	0.0005	0	0	0	0	0	0.0005	0	0.477	0.08310	T	0.61	0.07691	T	0.998	0.73220	D	0.917	0.65306	D	.	.	.	.	0.999364	0.21303	N	1.04	0.26193	L	1.56	0.29602	T	-2.09	0.47683	N	0.348	0.38950	-1.0606	0.11607	T	0.091	0.34737	T	9	0.039813906	0.02500	T	0.047461	0.62934	D	0.114	0.32008	.	.	0.559773648941	0.55639	0.48078943446575395	0.47998	1.05267121501	0.76208	0.366484433413	0.20327	T	0.009907	0.08988	T	-0.421778	0.01667	T	-0.391862	0.34335	T	0.0746764762499282	0.09292	T	0.359964	0.08281	T	0.12575203	0.29471	0.11653903	0.28132	0.12575203	0.29471	0.11653903	0.28132	-2.841	0.08567	T	.	.	0.408	0.60046	A	.	.	2.638695	0.34328	19.60	0.99752216586457532	0.84382	0.45680	0.27592	N	AEFDBHCI	0.065857	0.12867	N	-0.0373602571752742	0.40170	2.38098	-0.160266920782633	0.33015	1.884181	0.075738928902504	0.15705	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.97	2.95	0.33285	1.650000	0.36908	5.836000	0.50206	0.756000	0.94297	0.764000	0.29288	1.000000	0.68203	0.069000	0.16583	0.8697:0.0:0.1303:0.0	5.277	0.14967	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1042.43	69	chr19	48297304	.	A	G	1042.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.439;DP=489;ExcessHet=0;FS=0.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=-0.076;SOR=0.717	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,120,1800	9	0	1	0
chr19	48345297	48345297	C	T	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303538:exon3:c.G322A:p.D108N,TMEM143:NM_018273:exon4:c.G427A:p.D143N	.	431	1072	19	0	0	19	0.0087841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	0.0072	0.00379393	0.0081	0.0014	0.0108	0	0.0015	0.0114	0.0059	0.0035	0.0076713	1186	154602	rs34488893	0.0086	0.0086	0.0088	0.0084	0.0098	0.0084	0.0084	0.0096	0.0096	0.0013	0.0096	0.0083	0	0.0027	0.0084	0.0098	0.0086	0.0029	0.0063	0.0063	0.0062	0.0064	0.0101	0.0060	0.0059	0.0088	0.0084	0.0025	0.0121	0.0101	0.0058	0	0.0016	0.0306	0.0092	0.0076	0.0023	0.2	0.23997	T	0.0	0.92824	D	0.009	0.20732	B	0.007	0.16012	B	0.000018	0.62929	D	0.000000	0.647612	0.81001	D	2.095	0.58118	M	0.81	0.49358	T	-1.23	0.31170	N	0.315	0.36148	-1.0577	0.12337	T	0.073	0.29419	T	10	0.004316032	0.00087	T	.	.	.	0.140	0.37593	.	.	0.292062946507	0.28806	0.5104324674942305	0.50965	0.291305071471	0.31533	0.473314523697	0.35136	T	0.040388	0.25509	T	-0.603541	0.00139	T	-0.629334	0.10466	T	0.0141490791173392	0.00277	T	0.752425	0.37456	T	0.14458154	0.33180	0.1222838	0.29499	0.14458154	0.33180	0.1222838	0.29498	-4.601	0.32184	T	.	.	0.111	0.36174	B	.;.;.	.;.;.	3.197432	0.43469	21.7	0.99240108211587252	0.56501	0.85516	0.44656	D	AEFDBI	0.393075	0.47086	N	-0.357937413184623	0.26981	1.47683	-0.241450322178204	0.30068	1.689757	0.978063105480638	0.29883	0.695654	0.57023	0	0.723109	0.82256	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.33	4.33	0.51083	3.270000	0.51303	4.728000	0.44539	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.788000	0.37229	0.0:1.0:0.0:0.0	15.989	0.79977	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006048	0.015152	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	804.43	37	chr19	48345297	.	C	T	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.636;DP=393;ExcessHet=0;FS=2.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.671;SOR=1.061	GT:AD:DP:GQ:PL	0/1:43,37:80:99:816,0,1010	9	0	1	0
chr19	48442702	48442702	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G2776A:p.A926T	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.039860558081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.884e-07	4.447e-05	1.895e-06	0	1.14e-06	0	0	.	.	0	0	0	0	0	0	1.14e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.246	0.23984	T	0.014	0.16867	B	0.007	0.12992	B	0.966414	0.07750	N	1.034810	1	0.08975	N	0.345	0.11182	N	0.92	0.44461	T	-0.07	0.08033	N	0.076	0.05037	-1.0186	0.24171	T	0.056	0.23639	T	10	0.07767245	0.12287	T	0.039861	0.59048	D	0.016	0.02506	0.269	0.21735	0.416446257289	0.41261	0.2737244558671809	0.27285	.	.	0.896963834763	0.96096	D	0.06191	0.31777	T	-0.248062	0.14337	T	-0.5941	0.13313	T	0.0714632456199657	0.08855	T	0.49515	0.15352	T	0.057356976	0.11405	0.09663981	0.22970	0.057356976	0.11404	0.09663981	0.22969	-5.64	0.43156	T	.	.	0.084	0.09627	B	.	.	1.486237	0.19127	14.10	0.97680817101345607	0.35311	0.03743	0.09044	N	AEFDBI	0.031790	0.03466	N	-0.91960826770863	0.10384	0.4959481	-0.91649022663941	0.11706	0.5979691	0.504657700782257	0.20971	0.59774	0.34471	0	0.547309	0.14657	0	0.550215	0.18615	0	0.63947	0.58350	0	.	.	2.78	-0.0939	0.12983	0.422000	0.21016	0.892000	0.22480	0.540000	0.25189	0.000000	0.06391	0.108000	0.22760	0.267000	0.23694	0.0:0.2211:0.4072:0.3717	4.382	0.10733	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	39.02	1	chr19	48442702	.	G	A	39.02	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.812;DP=85;ExcessHet=0;FS=0;InbreedingCoeff=-0.0902;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.282;SOR=0.551	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,215	9	0	1	0
chr19	48443875	48443875	G	A	exonic	GRIN2D	.	nonsynonymous SNV	GRIN2D:NM_000836:exon14:c.G3949A:p.G1317S	Epileptic encephalopathy, early infantile, 46, Autosomal dominant	439	1065	17	1	0	19	0.00884132	.	.	.	1610322	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	.	0.0123802	0.0528	0	0.0312	0	0	0.0064	0.0125	0.0720	0.0048641	752	154602	rs191119443	0.0059	0.0058	0.0044	0.0074	0.0551	0.0058	0.0058	0.0537	0.0531	0.0005	0.0040	0.0047	3.448e-05	9.159e-05	0.0051	0.0030	0.0066	0.0551	0.0038	0.0037	0.0032	0.0043	0.0555	0.0035	0.0034	0.0501	0.0479	0.0008	0	0.0037	0.0040	0.0004	0	0	0.0028	0.0033	0.0555	0.401	0.10447	T	0.616	0.07543	T	0.011	0.15914	B	0.01	0.14941	B	0.911519	0.08549	U	0.924145	0.986144	0.24644	N	-0.205	0.04094	N	2.96	0.09542	T	0.17	0.05125	N	0.166	0.17553	-0.9666	0.37894	T	0.005	0.01725	T	10	0.0019791722	0.00028	T	.	.	.	0.035	0.08770	.	.	.	.	0.14639003486082292	0.14561	.	.	0.900060594082	0.96447	D	0.046192	0.27349	T	-0.613197	0.00121	T	-0.612612	0.11774	T	0.0198147061849218	0.00683	T	0.567543	0.20130	T	0.062713966	0.13127	0.07339499	0.15944	0.068769485	0.15009	0.07339499	0.15943	-3.692	0.19200	T	.	.	0.106	0.19839	B	.	.	3.550016	0.49897	22.9	0.9749647172538225	0.34272	0.39949	0.26327	N	AEFDBCI	0.124563	0.24068	N	-0.495661383120007	0.22223	1.185071	-0.335326958120525	0.26967	1.493161	0.999996145135024	0.74766	0.700653	0.57754	0	0.596491	0.49125	0	0.717052	0.78885	0	0.63947	0.58350	0	.	.	3.24	3.24	0.36257	1.751000	0.37967	10.920000	0.84231	0.504000	0.22967	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1385:0.0:0.8615:0.0	6.535	0.21543	958	0.09170	.	.	.	.	.	rs191119443	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010808	0.006494	0.004601	0.009615	0.000000	0.000000	0.017730	0.021186	0.05	307.43	18	chr19	48443875	.	G	A	307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.569;DP=181;ExcessHet=0;FS=0;InbreedingCoeff=-0.0529;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.08;ReadPosRankSum=1.18;SOR=0.693	GT:AD:DP:GQ:PL	0/0:10,0:10:24:0,24,360	9	0	1	0
chr19	48703561	48703561	G	A	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.G605A:p.R202Q,FUT2:NM_001097638:exon2:c.G605A:p.R202Q	.	414	1106	2	0	0	2	0.000903342	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.184141044099	0.0026	0.00119808	0.0027	0.0011	8.654e-05	0	0.0036	0.0044	0	6.101e-05	0.0027813	430	154602	rs142821014	0.0036	0.0036	0.0038	0.0034	0.0045	0.0035	0.0035	0.0044	0.0044	0.0005	0.0003	7.652e-05	0	0.0020	0.0003	0.0045	0.0022	6.985e-05	0.0018	0.0018	0.0020	0.0016	0.0033	0.0017	0.0016	0.0030	0.0028	0.0007	0	0.0002	0	0	0.0018	0	0.0033	0.0009	0	0.012	0.56456	D	0.0	0.92824	D	0.921	0.51088	P	0.557	0.49454	P	.	.	.	.	0.977958	0.39415	D	3.005	0.85968	M	-5.26	0.98928	D	-3.33	0.68298	D	0.735	0.75283	1.128	0.99920	D	0.958	0.98653	D	9	0.029679626	0.01094	T	0.184141	0.85730	D	0.794	0.93227	.	.	0.978187736363	0.97795	0.9084123613983252	0.90814	0.595181292919	0.54804	0.515976130962	0.41060	T	0.247905	0.61762	T	0.14077	0.68398	D	0.434557	0.93173	D	0.0577554860687988	0.06810	T	0.932107	0.74696	D	0.6640445	0.76115	0.53771865	0.73285	0.69642836	0.77863	0.47672263	0.69682	-9.861	0.73075	D	.	.	0.376	0.60079	A	.;.;.	.;.;.	4.421931	0.68494	25.2	0.99922493442964244	0.98852	0.90461	0.51656	D	AEFGBI	0.640911	0.61844	D	0.499767533852993	0.67077	5.033773	0.415194802067914	0.62511	4.467667	0.999785654062136	0.43007	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.05	5.05	0.67566	4.243000	0.58516	4.643000	0.44164	0.665000	0.62972	0.985000	0.35982	0.999000	0.35428	0.585000	0.31016	0.0:0.0:1.0:0.0	16.275	0.82465	878	0.29785	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1596.43	35	chr19	48703561	.	G	A	1596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=767;ExcessHet=0;FS=1.577;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.922;SOR=0.549	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	9	0	1	0
chr19	48703674	48703674	G	A	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.G718A:p.V240M,FUT2:NM_001097638:exon2:c.G718A:p.V240M	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.152824151099	0.0002	0.00119808	0.0010	0	0.0002	0.0001	0	1.5e-05	0	0.0068	0.0008215	127	154602	rs375360260	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0057	0.0056	0	6.708e-05	0	2.52e-05	0	0.0005	4.676e-05	0.0007	0.0062	0.0002	0.0002	7.712e-05	0.0003	0.0063	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	1.47e-05	0	0.0063	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.706334	0.33473	D	3.005	0.85968	M	-4.32	0.97218	D	-2.55	0.55181	D	0.566	0.58968	1.116	0.99894	D	0.935	0.97876	D	8	0.019301653	0.00429	T	0.152824	0.83418	D	0.658	0.87184	.	.	0.985653670733	0.98550	0.5706347204740276	0.56991	0.727271124552	0.62562	0.589356601238	0.51403	T	0.206651	0.56606	T	0.17117	0.71230	D	0.205069	0.83401	D	0.151803081501774	0.17246	T	0.968903	0.88767	D	0.5254448	0.68571	0.6236554	0.78068	0.53149617	0.68917	0.55897135	0.74486	-6.583	0.50923	T	.	.	0.391	0.59915	A	.;.	.;.	4.577262	0.72268	25.8	0.99841667262069855	0.92229	0.78778	0.38919	D	AEFGBI	0.373145	0.45852	N	0.441996171182935	0.63749	4.614874	0.314404183972094	0.56386	3.801801	0.970591819348323	0.29219	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.16	4.09	0.47038	4.289000	0.58806	6.770000	0.56558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.692000	0.33898	0.09:0.0:0.7318:0.1782	6.741	0.22621	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	2672.43	35	chr19	48703674	.	G	A	2672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.037;DP=874;ExcessHet=0;FS=1.835;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.182;SOR=0.557	GT:AD:DP:GQ:PL	0/0:64,0:64:99:0,120,1800	9	0	1	0
chr19	48894997	48894997	C	T	splicing	TULP2	NM_003323:exon6:c.514+1G>A	.	.	.	433	1088	1	0	0	1	0.000459348	1.0000	0.858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.00519169	0.0021	0.0237	0.0007	0	0	1.512e-05	0	0	0.0019599	303	154602	rs76100543	0.0007	0.0007	0.0008	0.0007	0.0265	0.0007	0.0007	0.0250	0.0245	0.0265	0.0011	0	0	0	0.0011	1.531e-05	0.0018	1.166e-05	0.0068	0.0069	0.0072	0.0064	0.0240	0.0065	0.0063	0.0227	0.0222	0.0240	0	0.0024	0	0	0	0.0034	2.941e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.119577	0.33194	T	0.0737129	0.75159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.474150	0.69744	25.4	0.99172097161484851	0.54412	0.94806	0.62393	D	AEFBI	.	.	.	0.865008050564996	0.89945	10.18537	0.650654699435265	0.78660	6.920941	0.999883441152607	0.44867	0.095506	0.02484	0	0.079893	0.02001	0	0.091713	0.02954	0	0.109499	0.03221	0	0.956633	0.63860	4.8	4.8	0.61157	3.286000	0.51430	7.182000	0.57752	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.048000	0.15020	0.0:1.0:0.0:0.0	13.736	0.62300	739	0.53257	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1430.43	33	chr19	48894997	.	C	T	1430.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.67;DP=423;ExcessHet=0;FS=1.53;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.684;SOR=0.54	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1190	9	0	1	0
chr19	48922390	48922390	G	A	exonic	NUCB1	.	nonsynonymous SNV	NUCB1:NM_006184:exon13:c.G1352A:p.R451Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00227274376151	7.7e-05	.	8.243e-06	9.619e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs372475843	4.789e-06	4.788e-06	5.446e-06	4.126e-06	4.474e-05	1.99e-06	1.28e-06	7.42e-06	2.77e-06	2.987e-05	4.474e-05	0	0	0	0	2.698e-06	0	1.159e-05	1.315e-05	1.314e-05	0	2.693e-05	2.416e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	0	0	0	0	0	1.471e-05	0	0	1.0	0.00964	T	0.632	0.07150	T	0.0	0.02946	B	0.0	0.01387	B	0.637683	0.10628	N	0.826076	1	0.08975	N	-1.245	0.00777	N	2.37	0.15964	T	1.07	0.01280	N	0.082	0.17278	-0.9520	0.40625	T	0.013	0.05225	T	10	0.029623121	0.01089	T	0.002273	0.04342	T	0.016	0.02506	.	.	0.151104730317	0.14643	0.04406923822741117	0.04350	0.324208047398	0.34584	0.251807779074	0.03961	T	0.076325	0.35392	T	-0.579659	0.00194	T	-0.790982	0.02138	T	0.00585613073548723	0.00064	T	0.468753	0.13831	T	0.010430109	0.00007	0.020544218	0.00142	0.010430109	0.00007	0.020544218	0.00142	-2.975	0.09914	T	.	.	0.053	0.00274	B	.;.	.;.	-0.001793	0.04269	1.064	0.52787274488535774	0.04814	0.00311	0.01644	N	AEFDBI	0.081665	0.16527	N	-1.59171622418934	0.01306	0.05688611	-1.57356073326375	0.01819	0.08283093	0.021080060761488	0.13317	0.732398	0.92422	0	0.643519	0.57511	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	3.5	-0.419	0.11725	-0.183000	0.09707	2.528000	0.33154	-0.991000	0.01849	0.000000	0.06391	1.000000	0.68203	0.025000	0.12405	0.4842:0.3982:0.1176:0.0	4.418	0.10895	744	0.52588	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1220.43	37	chr19	48922390	.	G	A	1220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.264;DP=455;ExcessHet=0;FS=1.395;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.53;ReadPosRankSum=0.387;SOR=0.839	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,948	9	0	1	0
chr19	49032576	49032576	C	G	exonic	CGB2	.	nonsynonymous SNV	CGB2:NM_001319065:exon2:c.C46G:p.R16G,CGB2:NM_033378:exon2:c.C82G:p.R28G	.	175	1315	28	4	0	36	0.0135034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	.	0.0038	0.00599042	0.0125	0.0018	0.0190	0	0.0062	0.0164	0.0294	0.0101	0.0025357	66	26028	rs369311910	0.0083	0.0082	0.0083	0.0083	0.0429	0.0082	0.0081	0.0377	0.0357	0.0031	0.0114	0.0270	2.661e-05	0.0029	0.0429	0.0081	0.0123	0.0074	0.0071	0.0071	0.0073	0.0069	0.0119	0.0067	0.0066	0.0104	0.0099	0.0025	0.0011	0.0119	0.0249	0	0.0027	0.0442	0.0089	0.0106	0.0058	0.004	0.65419	D	0.22	0.31629	T	.	.	.	.	.	.	0.003164	0.35330	N	0.277463	0.949426	0.26537	N	.	.	.	-2.77	0.90904	D	-3.56	0.68880	D	0.439	0.47765	0.091	0.84012	D	0.727	0.90655	D	10	0.013537228	0.00287	T	.	.	.	0.314	0.63588	.	.	0.914968962474	0.91411	0.44295366875919373	0.44212	3.3389385424	0.99635	0.413342803717	0.26920	T	.	.	.	-0.293793	0.09258	T	-0.185395	0.56020	T	0.0318637057931176	0.02284	T	0.928407	0.73561	D	0.42292413	0.62286	0.26347303	0.52154	0.42292413	0.62286	0.26347303	0.52153	-6.17	0.47679	T	.	.	0.268	0.53024	B	.;.	.;.	2.957116	0.39368	20.9	0.98790799955104336	0.46285	0.66708	0.33172	D	AEFI	0.251763	0.37157	N	0.0205258550701362	0.42790	2.584822	-0.190588880306432	0.31882	1.808461	5.27173936388819E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	0.624	0.16833	0.886000	0.27878	1.148000	0.24458	0.291000	0.18778	0.987000	0.36337	0.871000	0.27593	0.009000	0.08673	0.2676:0.7324:0.0:0.0	7.147	0.24764	769	0.49307	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.041339	0.049020	0.062500	0.049383	0.000000	0.026786	0.028689	0.000000	0.05	93.54	5	chr19	49032576	.	C	G	93.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.96;DP=85;ExcessHet=0;FS=0;InbreedingCoeff=-0.062;MLEAC=1;MLEAF=0.05;MQ=40;MQRankSum=0;QD=15.59;ReadPosRankSum=-1.96;SOR=0.693	GT:AD:DP:GQ:PL	0/0:6,0:6:15:0,15,225	9	0	1	0
chr19	49154166	49154166	A	G	exonic	HRC	.	nonsynonymous SNV	HRC:NM_002152:exon1:c.T1072C:p.S358P	.	409	1102	9	2	0	13	0.00586378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	0.0102	0.0107827	0.0093	0.0153	0.0031	0	0.0153	0.0107	0.0110	0.0067	0.0089844	1389	154602	rs113958500	0.0078	0.0078	0.0078	0.0078	0.0146	0.0077	0.0077	0.0135	0.0131	0.0146	0.0030	0.0258	2.519e-05	0.0125	0.0071	0.0076	0.0083	0.0060	0.0100	0.0099	0.0100	0.0099	0.0139	0.0095	0.0094	0.0130	0.0126	0.0139	0.0154	0.0037	0.0294	0	0.0135	0.0208	0.0084	0.0100	0.0054	0.103	0.30097	T	0.076	0.42794	T	0.995	0.67487	D	0.795	0.57940	P	.	.	.	.	0.951632	0.26465	N	1.935	0.51832	L	0.92	0.47477	T	-2.86	0.60188	D	0.485	0.52475	-1.0724	0.08894	T	0.063	0.26279	T	9	0.0057840645	0.00129	T	.	.	.	0.070	0.20419	.	.	0.43923137753	0.43544	0.04311629641358471	0.04256	0.319603573961	0.34159	0.364207446575	0.19996	T	0.284922	0.65771	T	-0.510504	0.00499	T	-0.494403	0.22929	T	0.0198032157728752	0.00682	T	0.561144	0.20346	T	0.2746389	0.50529	0.32155833	0.58102	0.2746389	0.50529	0.32155833	0.58102	-6.789	0.52477	T	0.6761795334033261	0.75191	0.119	0.32251	B	.;.	.;.	2.436692	0.31353	18.72	0.99686955211630224	0.79641	0.61327	0.31452	D	AEFGBI	0.760266	0.69834	D	0.0136805537129671	0.42478	2.560057	-0.0775322643419425	0.36322	2.112237	0.999948874094765	0.47345	0.497415	0.19182	0	0.547309	0.14657	0	0.0	0.00061	3	0.542086	0.14980	0	.	.	3.39	2.24	0.27264	1.602000	0.36393	0.000000	0.13247	0.756000	0.94297	0.066000	0.21956	0.011000	0.20116	0.018000	0.11154	0.7371:0.2629:0.0:0.0	6.126	0.19397	734	0.53889	.;.	TRPM4	Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.003788	0.05	1602.43	33	chr19	49154166	.	A	G	1602.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=530;ExcessHet=0;FS=1.363;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=-1.78;SOR=0.846	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,120,1262	9	0	1	0
chr19	49167950	49167950	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001195227:exon4:c.G301A:p.A101T,TRPM4:NM_017636:exon4:c.G301A:p.A101T	Progressive familial heart block, type IB, Autosomal dominant	15	1502	5	0	0	5	0.00166168	.	.	.	222811	Cardiovascular_phenotype|not_provided|not_specified|Progressive_familial_heart_block_type_IB|TRPM4-related_disorder	MedGen:CN230736|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:CN239424	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0176	0.0159744	0.0211	0.0145	0.0076	0.0002	0.0358	0.0222	0.0253	0.0352	0.0197151	3048	154602	rs113984787	0.0016	0.0016	0.0014	0.0019	0.0043	0.0016	0.0016	0.0040	0.0038	0.0022	0.0010	0.0051	0	0.0053	0.0027	0.0012	0.0017	0.0043	0.0066	0.0066	0.0064	0.0068	0.0109	0.0063	0.0061	0.0085	0.0076	0.0056	0	0.0026	0.0123	0	0.0115	0.0106	0.0075	0.0034	0.0109	0.358	0.12511	T	0.699	0.05844	T	0.0	0.02946	B	0.0	0.04355	B	0.004823	0.33350	N	0.246918	1	0.18198	N	-0.665	0.02058	N	4.12	0.02891	T	0.7	0.02228	N	0.052	0.04426	-0.8954	0.48446	T	0.002	0.00585	T	10	0.0020435154	0.00029	T	.	.	.	0.030	0.07022	.	.	.	.	0.17717151930838118	0.17636	0.27738686629	0.30214	0.43352586031	0.29691	T	0.101722	0.40875	T	-0.758679	0.00015	T	-0.850243	0.00957	T	0.013697212561965	0.00256	T	0.128487	0.01008	T	0.047344178	0.08078	0.04773141	0.06941	0.06390272	0.13503	0.049486957	0.07571	-3.466	0.17338	T	.	.	0.059	0.00847	B	.;.	.;.	0.905646	0.12797	9.314	0.95410164167274136	0.26873	0.00918	0.03575	N	AEFDBI	0.028975	0.02651	N	-1.25136982216713	0.04281	0.1929372	-1.13029696517047	0.07127	0.3454977	0.979470975839449	0.30032	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	4.54	2.27	0.27501	0.266000	0.18300	1.094000	0.24007	-0.092000	0.16129	0.000000	0.06391	0.014000	0.20376	0.971000	0.54645	0.4789:0.0:0.5211:0.0	7.937	0.29097	729	0.54495	.;.	.	.	.	.	rs113984787	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.015152	0.012228	0.014706	0.000000	0.043103	0.027439	0.022727	0.05	1587.43	34	chr19	49167950	.	G	A	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.09;DP=411;ExcessHet=0;FS=1.721;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.64;ReadPosRankSum=1.5;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:36,0:36:99:.:.:0,102,1168:.	9	0	1	0
chr19	49417172	49417172	G	A	exonic	KASH5	.	nonsynonymous SNV	KASH5:NM_144688:exon19:c.G1453A:p.E485K	.	426	1066	30	0	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00640059775023	0.0002	0.000399361	0.0012	0.0001	0.0037	0	0	0.0003	0.0049	0.0049	0.0009379	145	154602	rs201622869	0.0005	0.0005	0.0003	0.0007	0.0063	0.0005	0.0004	0.0046	0.0041	5.974e-05	0.0020	0	2.519e-05	0	0.0063	0.0001	0.0008	0.0046	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0005	0.0031	0.105	0.29823	T	0.103	0.38305	T	0.027	0.19556	B	0.017	0.18140	B	0.096214	0.02504	N	2.057350	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.82	0.22508	N	0.119	0.10911	-1.0236	0.22541	T	0.096	0.36133	T	10	0.004294127	0.00086	T	0.006401	0.16841	T	0.016	0.02506	.	.	0.272639205421	0.26888	0.31387674367805546	0.31300	0.189435828692	0.21264	0.384228229523	0.22854	T	0.027182	0.19962	T	-0.626133	0.00101	T	-0.671907	0.07487	T	0.00689805907607765	0.00078	T	0.545245	0.18642	T	0.052053366	0.09652	0.04890713	0.07364	0.052053366	0.09651	0.04890713	0.07364	-4.057	0.24654	T	.	.	0.112	0.22024	B	.	.	0.641357	0.10099	6.845	0.89207228624722734	0.18600	0.03502	0.08676	N	AEFDBHCI	0.034679	0.04338	N	-0.884965404244193	0.11199	0.539188	-1.00257850412567	0.09728	0.4856888	0.926450152088173	0.26852	0.525926	0.21836	0	0.615948	0.52940	0	0.600433	0.31921	0	0.530356	0.10902	0	.	.	2.94	0.652	0.16995	-0.228000	0.09119	1.951000	0.29885	0.670000	0.69193	0.000000	0.06391	0.472000	0.25058	0.296000	0.24405	0.3184:0.0:0.6816:0.0	4.945	0.13338	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.000000	0.001359	0.008772	0.000000	0.008621	0.018293	0.015152	0.05	1307.43	34	chr19	49417172	.	G	A	1307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.492;DP=394;ExcessHet=0;FS=1.805;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.652;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,969	9	0	1	0
chr19	49427301	49427301	C	G	exonic	GFY	.	nonsynonymous SNV	GFY:NM_001195256:exon2:c.C871G:p.P291A,GFY:NM_001385187:exon3:c.C871G:p.P291A	.	.	.	.	.	.	.	.	.	.	.	2197793	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0214674237314	.	.	8.122e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs753351759	3.469e-05	3.283e-05	2.996e-05	3.954e-05	0.0002	2.686e-05	2.375e-05	8.651e-05	6.751e-05	0	0	0	0	0	0	3.244e-05	1.727e-05	0.0002	2.628e-05	2.626e-05	3.853e-05	1.345e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.088	0.06587	.	.	.	.	.	.	.	0.056796998	0.06423	T	0.021467	0.44242	T	.	.	.	.	0.115124310173	0.11017	0.09474283047583909	0.09406	.	.	.	.	.	0.007453	0.06855	T	-0.522841	0.00423	T	-0.719501	0.04819	T	.	.	.	0.441756	0.12241	T	0.017502159	0.00278	0.04742861	0.06829	0.017502159	0.00278	0.04742861	0.06829	-3.175	0.12177	T	.	.	0.082	0.08802	B	.;.	.;.	-0.169019	0.03252	0.551	0.94419985140581764	0.24826	0.06909	0.12935	N	AEFDBI	0.045785	0.07529	N	.	.	.	.	.	.	0.976147372326668	0.29698	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	3.4	-6.79	0.01554	-0.957000	0.03971	-2.422000	0.03774	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2472:0.1971:0.167:0.3887	0.395	0.00388	862	0.33134	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2782.43	33	chr19	49427301	.	C	G	2782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.131;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.005;SOR=0.705	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1000	9	0	1	0
chr19	49596837	49596837	-	CCACCT	exonic	PRR12	.	nonframeshift insertion	PRR12:NM_020719:exon4:c.2502_2503insCCACCT:p.P845_M846insPP	.	370	1149	2	0	1	3	0.000869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.112e-05	0	0	0	0	4.436e-05	0	0.0002	3.84e-05	1	26028	rs778541464	8.058e-05	8.218e-05	7.33e-05	8.794e-05	0.0004	6.838e-05	6.364e-05	0.0003	0.0002	0	0	0	0	0	0	7.044e-05	0.0001	0.0004	3.958e-05	3.944e-05	5.156e-05	2.702e-05	0.0004	1.721e-05	1.133e-05	7.327e-05	3.042e-05	0	0	0	0	0	0	0	5.894e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	822.39	37	chr19	49596837	.	G	GCCACCT	822.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.35;DP=356;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.69;ReadPosRankSum=-1.068;SOR=0.748	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,928	9	0	1	0
chr19	49601568	49601568	C	A	exonic	PRR12	.	nonsynonymous SNV	PRR12:NM_020719:exon6:c.C4423A:p.P1475T	.	436	1082	4	0	0	4	0.00184502	.	.	.	2308853	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.064	.	.	0.000798722	0.0033	0.0049	0	0	0	0.0050	0.0147	0.0024	0.0010349	160	154602	rs201085398	0.0075	0.0072	0.0076	0.0074	0.0088	0.0074	0.0073	0.0086	0.0086	0.0016	0.0032	0.0011	2.802e-05	0.0052	0.0014	0.0088	0.0062	0.0025	0.0053	0.0053	0.0057	0.0048	0.0089	0.0050	0.0049	0.0083	0.0081	0.0016	0	0.0036	0.0014	0.0002	0.0045	0	0.0089	0.0062	0.0023	0.126	0.27194	T	0.063	0.57104	T	0.998	0.73220	D	0.882	0.62632	P	.	.	.	.	0.68898	0.30209	N	.	.	.	.	.	.	0.11	0.05706	N	0.367	0.40864	-0.8855	0.49315	T	0.167	0.50551	T	7	0.0067171752	0.00152	T	.	.	.	0.064	0.18567	.	.	0.220282294035	0.21616	0.5105150799299759	0.50973	0.239103485473	0.26464	0.781184792519	0.79106	T	0.001622	0.01056	T	-0.428862	0.01506	T	-0.382692	0.35406	T	0.00843588810460558	0.00102	T	0.514049	0.16524	T	0.09577984	0.22548	0.0833263	0.19086	0.09577984	0.22548	0.0833263	0.19085	.	.	.	.	.	0.085	0.10449	B	.;.	.;.	1.522176	0.19539	14.32	0.86546273947298658	0.16609	0.80976	0.40481	D	AEFDBI	0.064218	0.12458	N	-0.0340359885917116	0.40317	2.392333	-0.185247029661872	0.32078	1.821458	0.998823525256097	0.37755	0.67177	0.52595	0	0.577304	0.33150	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.2	2.2	0.26966	1.375000	0.33900	0.000000	0.13247	0.306000	0.19039	0.258000	0.24929	0.358000	0.24506	0.125000	0.19370	0.0:1.0:0.0:0.0	7.948	0.29157	753	0.51500	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004818	0.000000	0.001462	0.009202	0.050000	0.000000	0.006536	0.007937	0.05	1236.43	35	chr19	49601568	.	C	A	1236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.938;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.27;ReadPosRankSum=1.95;SOR=0.728	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	9	0	1	0
chr19	49651512	49651512	G	A	exonic	SCAF1	.	nonsynonymous SNV	SCAF1:NM_021228:exon7:c.G1123A:p.G375S	.	417	1104	1	0	0	1	0.000452694	.	.	.	3316975	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.008	0.229150613755	.	0.000199681	0.0004	0	0	0	0	0.0004	0	0.0008	0.0001552	24	154602	rs572089161	0.0002	0.0002	0.0001	0.0002	0.0013	0.0002	0.0002	0.0006	0.0006	0	0.0002	0.0010	0	0	0.0013	0.0001	0.0003	0.0008	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	9.732e-05	0.0002	0.0001	4.828e-05	0	6.548e-05	0.0009	0	0	0	0.0002	0	0.0006	0.005	0.63226	D	0.433	0.13595	T	0.011	0.15914	B	0.015	0.17295	B	0.232996	0.15878	N	0.526148	1	0.08975	N	0.805	0.20218	L	1.12	0.38718	T	-0.65	0.18877	N	0.231	0.25989	-1.0496	0.14509	T	0.060	0.24981	T	9	0.02151668	0.00516	T	0.229151	0.88171	D	0.008	0.00669	.	.	0.0675242888579	0.06100	0.28996675754906764	0.28909	0.628977153861	0.56955	0.876125812531	0.93432	D	0.025432	0.19020	T	-0.450458	0.01122	T	-0.497816	0.22574	T	0.0425427037674954	0.04154	T	0.511749	0.16382	T	0.051017817	0.09307	0.05866094	0.10878	0.051017817	0.09307	0.05866094	0.10877	-3.92	0.22602	T	.	.	0.082	0.08851	B	.	.	2.271346	0.29029	17.99	0.87114068048166138	0.16998	0.39815	0.26297	N	AEFDBI	0.101416	0.20370	N	-0.69676448409675	0.16114	0.8181229	-0.670036593030106	0.17712	0.9429877	0.550870969481843	0.21333	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.47	1.95	0.25130	2.452000	0.44619	2.721000	0.34312	0.590000	0.31872	0.991000	0.37257	0.998000	0.33993	0.235000	0.22869	0.12:0.0:0.6916:0.1884	5.473	0.15975	783	0.47268	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001542	0.000000	0.004110	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	466.43	33	chr19	49651512	.	G	A	466.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.907;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-1.918;SOR=0.704	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1052	9	0	1	0
chr19	49859986	49859986	G	C	exonic	PTOV1	.	nonsynonymous SNV	PTOV1:NM_001305105:exon11:c.G1042C:p.A348P,PTOV1:NM_001364745:exon11:c.G946C:p.A316P,PTOV1:NM_001364747:exon11:c.G1087C:p.A363P,PTOV1:NM_001364748:exon11:c.G619C:p.A207P,PTOV1:NM_001364749:exon11:c.G1087C:p.A363P,PTOV1:NM_001364750:exon11:c.G619C:p.A207P,PTOV1:NM_017432:exon11:c.G1042C:p.A348P	.	.	.	.	.	.	.	.	0.9993	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.0911102946676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	0.996	0.68779	D	0.975	0.73362	D	0.000011	0.62929	D	0.064020	0.999989	0.81001	D	2.44	0.70756	M	.	.	.	-2.49	0.54217	N	0.857	0.85766	-0.2445	0.76508	T	0.403	0.75366	T	8	0.89464617	0.88815	D	0.09111	0.75645	D	0.600	0.84183	0.712	0.84781	0.30921473904	0.30521	0.7937781805285119	0.79330	0.294501942292	0.31871	0.649490118027	0.59913	T	0.167256	0.51381	T	0.266272	0.80104	D	0.144705	0.79848	D	0.966139554977417	0.67487	D	0.947205	0.82243	D	0.68079406	0.77012	0.69628984	0.82117	0.68079406	0.77014	0.69628984	0.82118	-9.527	0.71026	D	.	.	0.994	0.97084	P	.;.;.;.	.;.;.;.	5.215660	0.87525	29.3	0.99475926031139206	0.66579	0.98837	0.87508	D	AEFDGBHCI	0.978614	0.99775	D	0.625636144366496	0.74799	6.194697	0.539015490318265	0.70638	5.534505	0.999999999999781	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.28	4.28	0.50183	8.284000	0.89839	11.497000	0.92950	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.056000	0.15673	0.0:0.0:1.0:0.0	15.979	0.79881	594	0.68584	Mediator complex, subunit Med25, PTOV domain;Mediator complex, subunit Med25, PTOV domain;Mediator complex, subunit Med25, PTOV domain;Mediator complex, subunit Med25, PTOV domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1980.43	48	chr19	49859986	.	G	C	1980.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.759;DP=491;ExcessHet=0;FS=6.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.53;ReadPosRankSum=-0.474;SOR=1.284	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1288	9	0	1	0
chr19	49865193	49865193	G	T	exonic	PNKP	.	nonsynonymous SNV	PNKP:NM_007254:exon4:c.C432A:p.N144K	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	938796	Developmental_and_epileptic_encephalopathy,_12	MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.00586738889499	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs367883177	4.104e-06	4.104e-06	8.167e-06	0	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	5.974e-05	2.236e-05	0	0	0	0.0003	0	0	1.159e-05	1.313e-05	1.312e-05	1.285e-05	1.342e-05	6.536e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	6.536e-05	0	0	0	0	0	0	0	0.644	0.04943	T	0.238	0.24549	T	0.0	0.02946	B	0.001	0.04355	B	0.969078	0.08171	N	0.984266	1	0.08975	N	-0.205	0.04094	N	0.75	0.50192	T	-0.87	0.23590	N	0.144	0.14480	-1.0035	0.28903	T	0.038	0.16376	T	10	0.04579863	0.03692	T	0.005867	0.15281	T	0.042	0.11227	0.363	0.36874	0.267299060538	0.26338	0.1294158853234181	0.12866	0.102023578772	0.11547	0.329780101776	0.14901	T	0.015777	0.31019	T	-0.376447	0.03280	T	-0.695651	0.06066	T	0.0160742436267629	0.00386	T	0.794021	0.43594	T	0.123806685	0.29062	0.03893016	0.03872	0.123806685	0.29062	0.03893016	0.03872	-2.824	0.08406	T	0.054931591386298564	0.01192	0.101	0.25850	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.666120	0.10347	7.074	0.86835527237485932	0.16805	0.14102	0.18224	N	AEFDGBI	0.112369	0.22213	N	-1.09270090092415	0.06776	0.3129374	-1.01210911849659	0.09518	0.4740133	0.99999964420505	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	3.94	0.491	0.16076	-0.262000	0.08706	0.740000	0.21154	0.676000	0.76740	0.001000	0.13787	0.936000	0.28664	0.597000	0.31313	0.3634:0.0:0.6366:0.0	5.755	0.17438	594	0.68584	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1634.43	42	chr19	49865193	.	G	T	1634.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=496;ExcessHet=0;FS=3.09;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-1.024;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1132	9	0	1	0
chr19	49932811	49932811	T	C	exonic	ATF5	.	nonsynonymous SNV	ATF5:NM_001193646:exon3:c.T568C:p.S190P,ATF5:NM_001290746:exon3:c.T568C:p.S190P,ATF5:NM_012068:exon4:c.T568C:p.S190P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0127494099845	.	.	0.0001	0.0003	0.0001	0	0	0.0001	0	7.313e-05	7.76e-05	12	154602	rs749451398	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0002	2.994e-05	0	3.85e-05	5.052e-05	0	0	0.0003	0.0004	4.682e-05	9.275e-05	9.201e-05	7.766e-05	0.0001	0.0004	5.571e-05	4.399e-05	7.94e-05	6.017e-05	2.434e-05	0	0	0	0.0002	0	0	0.0001	0	0.0004	0.372	0.11478	T	0.24	0.24406	T	0.0	0.02946	B	0.0	0.01387	B	0.760095	0.09630	N	0.875438	1	0.08975	N	0	0.06538	N	0.79	0.49068	T	-2.05	0.47008	N	0.116	0.10483	-1.0491	0.14649	T	0.042	0.18160	T	10	0.036156088	0.01900	T	0.012749	0.31594	T	0.029	0.06676	.	.	0.208816687407	0.20498	0.2759113099109887	0.27504	0.0198653729747	0.01948	0.531372368336	0.43228	T	0.044053	0.26695	T	-0.447439	0.01169	T	-0.632183	0.10250	T	0.0119760109048667	0.00188	T	0.155284	0.01352	T	0.09927329	0.23427	0.11041564	0.26622	0.09927329	0.23426	0.11041564	0.26621	-0.812	0.00813	T	.	.	0.051	0.00183	B	.;.	.;.	0.169767	0.05591	2.045	0.4561461242350307	0.03593	0.00270	0.01469	N	AEFDBHCI	0.093126	0.18845	N	-1.56597402625388	0.01443	0.06296617	-1.64540642605163	0.01400	0.06326373	0.999999945882003	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	3.85	-6.63	0.01641	0.582000	0.23535	0.865000	0.22263	-0.208000	0.08445	0.001000	0.13787	0.028000	0.21151	0.054000	0.15518	0.1105:0.2834:0.2064:0.3998	1.879	0.03028	825	0.40060	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1030.43	55	chr19	49932811	.	T	C	1030.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.926;DP=467;ExcessHet=0;FS=1.771;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.61;SOR=0.46	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr19	49970473	49970473	G	A	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon3:c.G563A:p.R188K	.	442	1058	22	0	0	22	0.01029	.	.	.	2818621	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.127	.	.	0.00179712	0.0027	0.0004	0.0051	0	0	0.0022	0.0099	0.0067	0.0001358	21	154602	rs544619308	0.0014	0.0014	0.0012	0.0015	0.0369	0.0013	0.0013	0.0324	0.0307	0.0013	0.0034	0.0011	0	0	0.0369	0.0010	0.0026	0.0043	0.0014	0.0013	0.0012	0.0016	0.0070	0.0012	0.0012	0.0049	0.0042	0.0003	0	0.0025	0.0010	0	0	0.0468	0.0015	0.0054	0.0070	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	713.45	45	chr19	49970473	.	G	A	713.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=398;ExcessHet=0;FS=7.133;InbreedingCoeff=-0.0543;MLEAC=1;MLEAF=0.05;MQ=36.36;MQRankSum=-0.53;QD=8.02;ReadPosRankSum=-1.423;SOR=0.218	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	9	0	1	0
chr19	49971294	49971294	G	A	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon4:c.G871A:p.G291R	.	428	1093	0	1	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	.	.	1.215e-05	0	0	0	0	2.318e-05	0	0	6.5e-06	1	154602	rs765091387	1.463e-05	1.506e-05	1.387e-05	1.54e-05	0.0002	9.4e-06	7.98e-06	3.804e-05	2.686e-05	0	2.265e-05	0	0	0	0.0002	9.161e-06	3.375e-05	8.208e-05	6.717e-06	6.578e-06	0	1.38e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	912.43	78	chr19	49971294	.	G	A	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.123;DP=469;ExcessHet=0;FS=0.783;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=42.91;MQRankSum=-4.609;QD=9.41;ReadPosRankSum=0.594;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1334	9	0	1	0
chr19	49972089	49972089	T	C	exonic	SIGLEC16	.	nonsynonymous SNV	SIGLEC16:NM_001348364:exon6:c.T1255C:p.F419L	.	413	1089	17	3	0	23	0.0104498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	.	0.00758786	0.0004	9.99e-05	8.702e-05	0.0001	0	0.0006	0	0.0001	0.0003493	54	154602	rs567880477	0.0006	0.0032	0.0006	0.0007	0.0016	0.0006	0.0006	0.0008	0.0006	0.0002	0.0004	0.0013	7.566e-05	0.0017	0.0016	0.0006	0.0013	8.164e-05	0.0049	0.0088	0.0051	0.0047	0.0075	0.0046	0.0045	0.0069	0.0067	0.0012	0.0056	0.0041	0.0081	0	0.0066	0.0180	0.0075	0.0064	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	173.43	69	chr19	49972089	.	T	C	173.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.939;DP=643;ExcessHet=0;FS=11.382;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.08;MQRankSum=-5.603;QD=2.25;ReadPosRankSum=-3.312;SOR=1.499	GT:AD:DP:GQ:PL	0/0:75,0:75:99:0,120,1800	9	0	1	0
chr19	50232065	50232065	T	C	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon9:c.T1085C:p.I362T,MYH14:NM_001077186:exon10:c.T1109C:p.I370T,MYH14:NM_001145809:exon10:c.T1109C:p.I370T	Deafness, autosomal dominant 4A, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.103539643622	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1168584760	6.852e-07	1.368e-06	0	1.377e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.412	0.14456	T	0.683	0.42641	P	0.358	0.47360	B	.	.	.	.	0.919653	0.36640	D	2.255	0.64187	M	-0.7	0.72785	T	-1.84	0.43149	N	0.642	0.68603	-0.1655	0.78537	T	0.359	0.72085	T	9	0.24970132	0.42286	T	0.10354	0.77763	D	0.451	0.75143	0.494	0.58206	0.671364786094	0.66858	0.210533860866777	0.20969	0.659080485588	0.58788	0.723029613495	0.70489	T	0.451234	0.79204	T	-0.0121562	0.49962	T	-0.255238	0.49298	T	0.247574753885184	0.22764	T	0.954005	0.82493	D	0.24083985	0.46991	0.31997666	0.57955	0.24083985	0.46991	0.31997666	0.57954	-7.056	0.54442	T	0.18932274676848795	0.24762	0.260	0.52817	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.446123	0.47959	22.5	0.95951909457013485	0.28275	0.87833	0.47510	D	AEFDBI	0.267899	0.38451	N	0.225818250265179	0.52453	3.419367	0.226912086162061	0.51347	3.317938	8.99114917103179E-4	0.07974	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.09	4.09	0.47038	0.145000	0.15978	2.178000	0.31107	0.605000	0.46263	0.000000	0.06391	1.000000	0.68203	0.970000	0.54328	0.0:0.0:0.0:1.0	11.328	0.48697	856	0.34373	.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	594.43	35	chr19	50232065	.	T	C	594.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.015;DP=409;ExcessHet=0;FS=0.887;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.82;ReadPosRankSum=0.633;SOR=0.54	GT:AD:DP:GQ:PL	0/0:51,0:51:99:0,120,1800	9	0	1	0
chr19	50454099	50454099	G	A	exonic	MYBPC2	.	nonsynonymous SNV	MYBPC2:NM_004533:exon17:c.G1829A:p.R610Q	.	.	.	.	.	.	.	.	.	.	.	3983098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.0633557330806	7.9e-05	.	3.166e-05	0.0003	0	0	0	1.85e-05	0	0	1.94e-05	3	154602	rs373805656	1.918e-05	1.915e-05	2.044e-05	1.79e-05	0.0004	1.33e-05	1.145e-05	0.0002	0.0002	0.0004	2.247e-05	0	0	0	0	7.199e-06	4.974e-05	4.658e-05	6.574e-05	6.563e-05	9.001e-05	4.036e-05	0.0002	3.518e-05	2.617e-05	0.0001	9.929e-05	0.0002	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.067	0.44302	T	0.959	0.55135	D	0.477	0.46994	P	0.007641	0.31286	U	0.000000	0.83435	0.28717	N	2.68	0.78455	M	0.93	0.44065	T	-2.5	0.54382	D	0.488	0.52208	-0.7461	0.58138	T	0.163	0.49864	T	10	0.4824118	0.60510	T	0.063356	0.68941	D	0.203	0.48915	.	.	0.751577878647	0.74933	0.6312417867829081	0.63058	0.311374362248	0.33442	0.391689360142	0.23907	T	0.03862	0.24903	T	-0.335907	0.05677	T	-0.440848	0.28714	T	0.311428040266037	0.25473	T	0.882412	0.60266	D	0.2735399	0.50421	0.29413718	0.55443	0.2735399	0.50421	0.29413718	0.55442	-8.556	0.64798	D	.	.	0.532	0.66016	A	.	.	4.104838	0.61238	24.3	0.99263808892670247	0.57322	0.74455	0.36424	D	AEFDBHCI	0.267914	0.38451	N	0.0376727160788656	0.43577	2.647852	-0.141101458644722	0.33752	1.934052	0.899800700585154	0.26060	0.696267	0.57585	0	0.69481	0.67340	0	0.691665	0.62940	0	0.542086	0.14980	0	.	.	2.93	2.93	0.33092	3.037000	0.49465	3.297000	0.37352	0.652000	0.53365	0.984000	0.35821	0.461000	0.25002	0.005000	0.06747	0.0:0.0:1.0:0.0	13.109	0.58677	867	0.32089	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1097.43	36	chr19	50454099	.	G	A	1097.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.826;DP=430;ExcessHet=0;FS=2.507;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.469;SOR=0.945	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr19	50455606	50455606	G	A	exonic	MYBPC2	.	nonsynonymous SNV	MYBPC2:NM_004533:exon20:c.G2300A:p.G767D	.	.	.	.	.	.	.	.	.	.	.	3983108	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.458	0.0629672730287	.	.	1.659e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs763763191	1.368e-05	1.368e-05	1.361e-05	1.375e-05	0.0004	8.94e-06	7.26e-06	0.0002	0.0002	0.0004	2.236e-05	0	0	0	0	8.994e-07	4.969e-05	3.478e-05	6.565e-05	6.561e-05	8.992e-05	4.028e-05	0.0002	3.514e-05	2.614e-05	0.0001	9.911e-05	0.0002	0	0	0	0	0	0	0	0	0	0.031	0.45039	D	0.056	0.46632	T	0.936	0.52359	P	0.734	0.55432	P	0.076721	0.21147	U	0.193771	0.99999	0.58761	D	1.535	0.38868	L	0.52	0.55266	T	-5.11	0.83092	D	0.879	0.87699	-0.7922	0.55601	T	0.196	0.55100	T	10	0.8395362	0.83107	D	0.062967	0.68819	D	0.458	0.75619	0.644	0.78117	0.830896529316	0.82929	0.7854859934395343	0.78499	0.702873162905	0.61236	0.760173380375	0.75955	T	0.028379	0.20569	T	0.0485881	0.58161	T	0.111452	0.77669	D	0.65466570854187	0.38663	D	0.951105	0.81346	D	0.5755206	0.71363	0.5964312	0.76567	0.5755206	0.71364	0.5964312	0.76568	-10.019	0.74026	D	.	.	0.373	0.58029	A	.	.	4.383623	0.67590	25.1	0.99827997265905088	0.91026	0.98743	0.86283	D	AEFBI	0.903508	0.85269	D	0.517594575613437	0.68132	5.17509	0.53887850610493	0.70627	5.53312	0.999845085308175	0.43971	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	9.406000	0.96653	11.653000	0.93904	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:0.0:1.0:0.0	16.109	0.81055	862	0.33134	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1147.43	33	chr19	50455606	.	G	A	1147.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.424;DP=423;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=-0.924;SOR=0.73	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,104,1272	9	0	1	0
chr19	50791771	50791771	C	T	exonic	ACP4	.	nonsynonymous SNV	ACP4:NM_033068:exon4:c.C419T:p.P140L	.	.	.	.	.	.	.	.	.	.	.	1015152	Amelogenesis_imperfecta	Human_Phenotype_Ontology:HP:0000705,Human_Phenotype_Ontology:HP:0006284,Human_Phenotype_Ontology:HP:0006310,Human_Phenotype_Ontology:HP:0006325,Human_Phenotype_Ontology:HP:0006327,Human_Phenotype_Ontology:HP:0006331,MONDO:MONDO:0019507,MedGen:C0002452,OMIM:PS104500,Orphanet:88661	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.574	0.207660314198	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1371134137	4.798e-06	4.788e-06	6.819e-06	2.756e-06	7.564e-05	2e-06	1.28e-06	2.005e-05	1.056e-05	0	2.247e-05	0	7.564e-05	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.635	0.99338	H	1.88	0.23884	T	-9.43	0.98401	D	0.96	0.96984	-0.6189	0.64034	T	0.202	0.55891	T	10	0.98738027	0.99101	D	0.20766	0.87105	D	0.574	0.82742	0.892	0.97414	0.126345400529	0.12197	0.8174035606882466	0.81697	0.567331723874	0.53003	0.798939704895	0.81802	T	0.376312	0.73973	T	0.246534	0.78275	D	0.199218	0.83084	D	0.982794046401978	0.74707	D	0.972603	0.90144	D	0.82119566	0.85300	0.699551	0.82300	0.82119566	0.85302	0.699551	0.82301	-10.398	0.76259	D	0.7223140284445471	0.80348	0.679	0.72120	P	.	.	4.760906	0.76968	26.6	0.99885062741259578	0.96049	0.91628	0.53926	D	AEFDBHCI	0.613813	0.60136	D	0.600358190757522	0.73198	5.927052	0.467591732296627	0.65855	4.876688	0.999999999977713	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	4.87	4.87	0.62877	6.492000	0.73560	7.365000	0.58365	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:1.0:0.0:0.0	15.873	0.78917	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	275.43	35	chr19	50791771	.	C	T	275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.293;DP=305;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.616;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,13:26:99:287,0,302	9	0	1	0
chr19	51027466	51027466	T	C	exonic	KLK11	.	nonsynonymous SNV	KLK11:NM_144947:exon1:c.A52G:p.T18A	.	410	1111	1	0	0	1	0.000449843	.	.	.	2239513	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.161	0.0280285906316	.	.	0.0002	0	0.0002	0	0	0.0003	0.0011	6.058e-05	0.000194	30	154602	rs372936267	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0006	0.0005	0.0008	0.0002	0.0039	0	0	0.0009	4.68e-05	0.0005	6.957e-05	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	4.765e-05	3.339e-05	9.62e-05	0	0.0001	0.0043	0	0	0.0034	0.0001	0.0005	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.3	0.87671	D	.	.	.	0.07	0.04307	-0.8517	0.51850	T	0.243	0.61131	T	9	0.0067301095	0.00153	T	0.028029	0.50763	D	.	.	.	.	0.554640639675	0.55122	0.3093030113148603	0.30843	0.0823916925326	0.09297	.	.	.	0.001326	0.00800	T	-0.368242	0.03684	T	-0.473244	0.25167	T	0.00645530221249256	0.00072	T	0.225377	0.02951	T	0.02749089	0.01947	0.031440496	0.01734	0.02749089	0.01947	0.031440496	0.01734	-2.307	0.04593	T	.	.	0.057	0.00583	B	.	.	0.803983	0.11749	8.323	0.39615928335889122	0.02744	0.01233	0.04359	N	AEFDBI	0.050643	0.08872	N	-1.68206516820955	0.00907	0.03927055	-1.70057515490452	0.01135	0.05102804	0.409417816720503	0.20199	0.615755	0.39536	0	0.59043	0.45803	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	2.39	-1.8	0.07480	-0.096000	0.11027	-1.102000	0.06325	-0.983000	0.01888	0.002000	0.15269	0.000000	0.08366	0.031000	0.13245	0.0:0.1485:0.2612:0.5903	4.219	0.10006	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	997.43	33	chr19	51027466	.	T	C	997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.365;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-2.139;SOR=0.69	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,108,1620	9	0	1	0
chr19	51034590	51034590	A	G	exonic	KLK12	.	nonsynonymous SNV	KLK12:NM_001370125:exon2:c.T32C:p.V11A,KLK12:NM_019598:exon2:c.T32C:p.V11A,KLK12:NM_145894:exon2:c.T32C:p.V11A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.0233649334957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	0.14793	T	0.58	0.19599	T	0.0	0.07471	B	0.002	0.12133	B	0.371735	0.04366	N	1.625630	1	0.08975	N	0	0.06538	N	-2.98	0.92057	D	-0.24	0.11913	N	0.06	0.04547	-0.5341	0.67386	T	0.479	0.80047	T	10	0.05334899	0.05511	T	0.023365	0.46327	T	0.242	0.54781	0.448	0.50793	0.575279034457	0.57196	0.4476983547442164	0.44687	0.195611412408	0.21904	0.331084519625	0.15098	T	0.017607	0.14333	T	-0.0868079	0.38602	T	-0.36247	0.37765	T	0.0322044864296913	0.02339	T	0.286971	0.06521	T	0.02575076	0.01548	0.03170942	0.01799	0.02575076	0.01548	0.03170942	0.01799	-3.751	0.21343	T	.	.	0.105	0.20702	B	.;.;.;.	.;.;.;.	1.345173	0.17522	13.21	0.91471755035038849	0.20744	0.04922	0.10676	N	AEFDBI	0.069678	0.13801	N	-0.989057021020255	0.08837	0.4158926	-0.967241554922437	0.10526	0.5306858	1.32911820858569E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.11	-0.889	0.10044	0.522000	0.22617	2.194000	0.31231	0.756000	0.94297	0.000000	0.06391	0.001000	0.17328	0.993000	0.69303	0.5957:0.1678:0.2365:0.0	4.404	0.10831	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	523.43	34	chr19	51034590	.	A	G	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.981;DP=400;ExcessHet=0;FS=4.145;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.67;SOR=1.436	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,112,1224	9	0	1	0
chr19	51079638	51079638	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C277T:p.R93C,KLK14:NM_001311182:exon5:c.C277T:p.R93C,KLK14:NM_022046:exon5:c.C277T:p.R93C	.	421	1089	11	1	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	.	0.0071	0.00838658	0.0072	0.0246	0.0086	0	0.0025	0.0058	0.0115	0.0062	0.0043014	665	154602	rs112145183	0.0029	0.0030	0.0028	0.0031	0.0190	0.0029	0.0028	0.0178	0.0173	0.0190	0.0043	0.0032	5.088e-05	0.0020	0.0063	0.0023	0.0049	0.0044	0.0074	0.0074	0.0076	0.0072	0.0171	0.0070	0.0069	0.0160	0.0156	0.0171	0	0.0049	0.0035	0	0.0013	0.0137	0.0040	0.0095	0.0027	0.026	0.46910	D	0.043	0.49942	D	0.999	0.77913	D	0.93	0.66466	D	.	.	.	.	0.642493	0.32889	D	1.54	0.38927	L	-2.44	0.88767	D	-3.59	0.69236	D	0.268	0.30347	-0.0050	0.82153	T	0.368	0.72826	T	9	0.01293987	0.00276	T	.	.	.	0.422	0.73078	.	.	0.902430433393	0.90145	0.7780944457754915	0.77759	0.689168275035	0.60470	0.391560435295	0.23890	T	0.533063	0.83876	D	-0.381316	0.03057	T	-0.305574	0.44132	T	0.0382964345424098	0.03384	T	0.708829	0.31953	T	0.35127887	0.57166	0.32171455	0.58117	0.35127887	0.57166	0.32171455	0.58116	-9.514	0.70946	D	.	.	0.689	0.72503	P	.;.;.	.;.;.	4.780459	0.77484	26.7	0.99889421025040326	0.96359	0.09365	0.15136	N	AEFDBCI	0.086503	0.17538	N	0.104245408592214	0.46660	2.903034	-0.0434936137331627	0.37772	2.216228	6.39416331259149E-4	0.07505	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.04	0.235	0.14697	-0.255000	0.08789	.	.	0.616000	0.49467	0.000000	0.06391	0.966000	0.29516	0.951000	0.49849	0.1652:0.1632:0.3398:0.3319	1.055	0.01489	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021191	0.061224	0.027174	0.002924	0.000000	0.025862	0.003049	0.003788	0.05	1178.43	34	chr19	51079638	.	G	A	1178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.266;DP=449;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.77;SOR=0.603	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1258	9	0	1	0
chr19	51483197	51483197	G	A	exonic	CEACAM18	.	nonsynonymous SNV	CEACAM18:NM_001278392:exon4:c.G854A:p.S285N	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0040	0.00399361	0.0038	0.0010	0.0029	0	0.0002	0.0055	0.0022	0.0028	0.0040232	622	154602	rs185908180	0.0061	0.0061	0.0063	0.0059	0.0073	0.0060	0.0060	0.0071	0.0071	0.0010	0.0040	0.0001	5.038e-05	0.0008	0.0049	0.0073	0.0052	0.0028	0.0043	0.0043	0.0044	0.0042	0.0067	0.0040	0.0039	0.0062	0.0060	0.0013	0.0121	0.0062	0.0006	0.0002	0.0002	0.0034	0.0067	0.0071	0.0033	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.32	0.33002	L	.	.	.	0.9	0.01618	N	0.14	0.13911	-1.0060	0.28156	T	0.054	0.23034	T	9	0.0060718954	0.00136	T	.	.	.	0.016	0.02506	.	.	0.0884992946249	0.08302	0.12791582031036441	0.12716	.	.	0.521655142307	0.41859	T	6.73E-4	0.00299	T	-0.644282	0.00078	T	-0.691846	0.06283	T	0.0116658611041585	0.00178	T	0.306369	0.05889	T	0.038369063	0.05099	0.077239774	0.17185	0.038369063	0.05098	0.077239774	0.17185	-4.063	0.24743	T	.	.	0.153	0.33891	B	.	.	0.341903	0.07154	3.737	0.19025385960722976	0.00624	0.00697	0.02968	N	AEFDBI	0.045155	0.07351	N	-0.908399482289071	0.10645	0.509661	-0.999886000534558	0.09788	0.4890248	8.37199790890469E-5	0.04703	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.76	0.353	0.15294	0.404000	0.20722	.	.	0.561000	0.28422	0.233000	0.24675	0.000000	0.08366	0.003000	0.05239	0.1691:0.0:0.5687:0.2622	2.910	0.05383	964	0.07719	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006546	0.010101	0.002717	0.008772	0.000000	0.008621	0.006098	0.022727	0.05	1094.43	34	chr19	51483197	.	G	A	1094.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.245;DP=431;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=1.19;SOR=0.701	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1257	9	0	1	0
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V,FPR1:NM_001193306:exon3:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	66.14	91	chr19	51746559	.	T	C	66.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-6.057;DP=1532;ExcessHet=0.2348;FS=164.549;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.19;ReadPosRankSum=-0.656;SOR=9.641	GT:AD:DP:GQ:PL	0/0:167,0:167:99:0,120,1800	8	0	2	0
chr19	51965274	51965274	T	G	exonic	ZNF350	.	nonsynonymous SNV	ZNF350:NM_021632:exon5:c.A1179C:p.Q393H	.	386	1122	12	2	0	16	0.00707965	.	.	.	2818707	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.055	0.00145382532368	0.0014	0.00139776	0.0017	0.0002	0.0008	0	0.0005	0.0014	0	0.0061	0.0016623	257	154602	rs4988335	0.0017	0.0017	0.0016	0.0017	0.0085	0.0016	0.0016	0.0066	0.0059	0.0002	0.0008	0.0001	2.519e-05	0.0003	0.0085	0.0015	0.0022	0.0055	0.0011	0.0011	0.0011	0.0012	0.0046	0.0010	0.0009	0.0031	0.0026	0.0004	0	0.0008	0	0	0.0002	0.0034	0.0017	0	0.0046	0.058	0.37750	T	0.073	0.43159	T	0.059	0.23051	B	0.042	0.24114	B	0.003175	0.35330	N	0.000000	0.999981	0.18198	N	1.555	0.39373	L	3.18	0.07478	T	-3.84	0.72240	D	0.183	0.19861	-1.0223	0.22965	T	0.021	0.08732	T	10	0.007285595	0.00166	T	0.001454	0.02189	T	0.055	0.15663	0.554	0.67133	0.117506650769	0.11410	0.13985376483419276	0.13908	0.744836898648	0.63452	0.479540765285	0.35993	T	0.108632	0.42184	T	-0.558061	0.00261	T	-0.572196	0.15249	T	0.0498061578783311	0.05466	T	0.447355	0.12562	T	0.35781085	0.57669	0.27973923	0.53944	0.35781085	0.57669	0.27973923	0.53943	-5.577	0.42582	T	.	.	0.823	0.78383	P	.	.	1.392598	0.18056	13.52	0.98199288933276874	0.39105	0.19220	0.20575	N	AEFDBCI	0.077809	0.15685	N	-0.847201414148941	0.12119	0.5888097	-0.920739106781187	0.11605	0.5922507	6.92460446046409E-4	0.07645	0.631515	0.41029	0	0.697927	0.68747	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.41	-3.03	0.05100	-2.109000	0.01422	.	.	0.601000	0.45875	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.615:0.0:0.385	10.996	0.46792	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.05	1696.43	61	chr19	51965274	.	T	G	1696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.402;DP=596;ExcessHet=0;FS=2.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.357;SOR=0.742	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1118	9	0	1	0
chr19	52034081	52034081	C	T	exonic	ZNF432	.	nonsynonymous SNV	ZNF432:NM_001322284:exon5:c.G1598A:p.R533Q,ZNF432:NM_001322285:exon5:c.G1598A:p.R533Q,ZNF432:NM_014650:exon5:c.G1598A:p.R533Q	.	402	1114	6	0	0	6	0.00268577	.	.	.	705216	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.118	.	0.0089	0.00579073	0.0074	0.0026	0.0054	0.0001	0.0178	0.0100	0.0154	0.0007	0.0077101	1192	154602	rs117633649	0.0090	0.0090	0.0090	0.0089	0.0113	0.0088	0.0088	0.0096	0.0096	0.0016	0.0083	0.0013	5.038e-05	0.0201	0.0113	0.0098	0.0090	0.0008	0.0079	0.0079	0.0073	0.0086	0.0160	0.0075	0.0074	0.0144	0.0137	0.0019	0.0110	0.0160	0.0006	0.0002	0.0201	0.0068	0.0092	0.0099	0.0010	0.013	0.53900	D	0.027	0.55341	D	0.988	0.62325	D	0.569	0.49832	P	.	.	.	.	0.999734	0.20548	N	1.165	0.29723	L	1.84	0.24656	T	-2.89	0.60665	D	0.185	0.26837	-1.0703	0.09348	T	0.049	0.20750	T	9	0.0055719614	0.00123	T	.	.	.	0.118	0.32913	.	.	0.298056030225	0.29408	0.06553176725640754	0.06492	0.313201615579	0.33613	0.413404345512	0.26928	T	0.102706	0.41069	T	-0.566776	0.00231	T	-0.576523	0.14858	T	0.0355470686176569	0.02901	T	0.275372	0.04709	T	0.2838641	0.51416	0.24361204	0.49809	0.2838641	0.51416	0.24361204	0.49808	-6.198	0.47907	T	.	.	0.403	0.59854	A	.;.	.;.	3.605418	0.50945	23.0	0.99951997338411658	0.99951	0.00131	0.00809	N	AEFDGBHCI	0.143086	0.26570	N	0.0608843360165002	0.44645	2.734748	-0.0710903196948234	0.36591	2.131401	0.30805057368628	0.19258	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	2.81	2.81	0.31971	-1.130000	0.03353	.	.	0.463000	0.21641	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.0:0.7867:0.2133:0.0	9.779	0.39806	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.000000	0.005435	0.020468	0.000000	0.000000	0.000000	0.003788	0.05	1139.43	35	chr19	52034081	.	C	T	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.647;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.527;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1057	9	0	1	0
chr19	52067122	52067122	T	C	exonic	ZNF841	.	nonsynonymous SNV	ZNF841:NM_001369830:exon3:c.A412G:p.T138A,ZNF841:NM_001321349:exon5:c.A412G:p.T138A,ZNF841:NM_001369826:exon5:c.A760G:p.T254A,ZNF841:NM_001352298:exon6:c.A760G:p.T254A,ZNF841:NM_001352299:exon6:c.A760G:p.T254A,ZNF841:NM_001369825:exon6:c.A763G:p.T255A,ZNF841:NM_001369828:exon6:c.A760G:p.T254A,ZNF841:NM_001136499:exon7:c.A760G:p.T254A,ZNF841:NM_001369827:exon7:c.A760G:p.T254A,ZNF841:NM_001369829:exon7:c.A760G:p.T254A	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	.	0.00299521	0.0039	0	0	0	0	0	0	0.0152	0.0012936	200	154602	rs369750870	0.0007	0.0007	0.0004	0.0011	0.0120	0.0007	0.0007	0.0114	0.0112	3.107e-05	2.671e-05	0	5.379e-05	0	0.0003	3.678e-06	0.0007	0.0120	0.0005	0.0005	0.0002	0.0007	0.0135	0.0004	0.0003	0.0108	0.0099	9.62e-05	0	0	0	0	0	0	0	0	0.0135	0.788	0.13349	T	0.263	0.38742	T	0.974	0.57829	D	0.953	0.69275	D	.	.	.	.	1	0.08975	N	1.68	0.43186	L	2.34	0.16351	T	-0.38	0.13418	N	0.019	0.00717	-1.0461	0.15505	T	0.058	0.24465	T	9	0.0055580437	0.00123	T	.	.	.	0.037	0.09474	.	.	0.188950314367	0.18478	0.021517778419263164	0.02104	0.288721649116	0.31282	0.239013701677	0.02703	T	.	.	.	-0.723673	0.00026	T	-0.801895	0.01855	T	0.0305502623573663	0.02075	T	0.237876	0.03362	T	0.019535288	0.00486	0.026971946	0.00817	0.019535288	0.00485	0.026971946	0.00817	-5.289	0.39834	T	.	.	0.075	0.05535	B	.;.;.	.;.;.	-0.090801	0.03695	0.752	0.94154508831863271	0.24354	0.01040	0.03887	N	AEFBCI	0.021707	0.00997	N	-0.790143117489296	0.13566	0.669235	-1.0459557455195	0.08791	0.4340003	0.00287413118125788	0.09767	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.96	-2.14	0.06725	-0.858000	0.04389	.	.	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2032:0.2907:0.0:0.5061	2.805	0.05092	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002022	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2341.43	151	chr19	52067122	.	T	C	2341.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.172;DP=474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-1.53;SOR=0.641	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	9	0	1	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.017663	0.011696	0.000000	0.017241	0.009146	0.011364	0.1	1706.14	35	chr19	52115218	.	C	T	1706.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.73;DP=467;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.135;SOR=0.651	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1194	8	0	2	0
chr19	52321680	52321680	G	C	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.G301C:p.D101H,ZNF480:NM_001297625:exon4:c.G199C:p.D67H,ZNF480:NM_144684:exon5:c.G430C:p.D144H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00308758147372	.	.	8.252e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs773223002	1.368e-06	1.368e-06	1.361e-06	1.375e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.872e-05	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.31235	T	0.215	0.28764	T	0.947	0.61523	P	0.453	0.58514	P	.	.	.	.	1	0.08975	N	1.15	0.29295	L	3.35	0.07236	T	-1.1	0.28497	N	0.135	0.13198	-1.0087	0.27323	T	0.027	0.11529	T	9	0.07949197	0.12792	T	0.003088	0.06696	T	0.041	0.10877	0.298	0.26362	0.195762928549	0.19159	0.21709009889337896	0.21625	0.26005264081	0.28572	0.272967875004	0.06531	T	0.007851	0.07229	T	-0.277421	0.10944	T	-0.636273	0.09943	T	0.185041289044061	0.19547	T	0.0467953	0.00383	T	0.038076647	0.05002	0.040264063	0.04312	0.038076647	0.05002	0.040264063	0.04312	-4.337	0.36093	T	.	.	0.095	0.18372	B	.;.;.	.;.;.	1.310774	0.17138	12.98	0.9685548969273573	0.31358	0.01059	0.03935	N	AEFBI	0.033279	0.03917	N	-0.804450662065105	0.13197	0.6484033	-0.920822052190615	0.11604	0.5921423	2.74421949225783E-4	0.06300	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	2.02	-0.8	0.10347	-0.069000	0.11501	.	.	0.367000	0.20222	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.4511:0.0:0.2353:0.3136	1.471	0.02271	988	0.01987	.;Krueppel-associated box;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1526.43	44	chr19	52321680	.	G	C	1526.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.205;DP=454;ExcessHet=0;FS=2.511;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=-0.52;SOR=0.489	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	9	0	1	0
chr19	52322814	52322814	C	T	exonic	ZNF480	.	nonsynonymous SNV	ZNF480:NM_001297624:exon4:c.C1435T:p.R479C,ZNF480:NM_001297625:exon4:c.C1333T:p.R445C,ZNF480:NM_144684:exon5:c.C1564T:p.R522C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00373538716359	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997457483	3.299e-05	3.283e-05	3.279e-05	3.319e-05	7.576e-05	2.555e-05	2.259e-05	2.839e-05	2.517e-05	2.997e-05	4.507e-05	0	7.576e-05	0	0	3.792e-05	0	0	6.573e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.106	0.29688	T	0.072	0.48594	T	0.999	0.77913	D	0.789	0.57669	P	.	.	.	.	1	0.08975	N	2.25	0.63811	M	2.14	0.19450	T	-2.3	0.51157	N	0.064	0.07949	-1.0614	0.11410	T	0.068	0.27879	T	9	0.15304208	0.28897	T	0.003735	0.08651	T	0.055	0.15663	0.62	0.75461	0.203808441222	0.19973	0.1312030350919284	0.13045	0.375685216108	0.39028	0.229436218739	0.01927	T	0.03811	0.24721	T	-0.28755	0.09883	T	-0.650822	0.08897	T	0.214945079449722	0.21208	T	0.288571	0.05217	T	0.08718202	0.20291	0.05358357	0.09054	0.08718202	0.20290	0.05358357	0.09054	-5.534	0.42856	T	.	.	0.538	0.66286	A	.;.;.	.;.;.	1.904491	0.24190	16.30	0.99211356394692396	0.55594	0.00019	0.00214	N	AEFGBCI	0.029688	0.02848	N	-0.93873745593251	0.09947	0.4730843	-1.14324779735726	0.06889	0.3332095	0.00133316644986829	0.08454	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	2.25	1.18	0.20058	-2.225000	0.01295	.	.	-0.506000	0.05009	0.000000	0.06391	0.001000	0.17328	0.002000	0.04165	0.0:0.7119:0.0:0.2881	6.046	0.18986	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1719.43	44	chr19	52322814	.	C	T	1719.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.27;DP=518;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.444;SOR=0.589	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,105,1575	9	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2849.21	64	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	2849.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.15;DP=644;ExcessHet=4.5998;FS=83.429;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=58.68;MQRankSum=-2.192;QD=6.8;ReadPosRankSum=-0.071;SOR=7.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1305.48	61	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	1305.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=544;ExcessHet=2.8389;FS=106.465;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=59.07;MQRankSum=-3.021;QD=4.14;ReadPosRankSum=-1.312;SOR=7.297	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	9	0	1	0
chr19	52384822	52384822	-	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1242_1243insATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415Mfs*11	.	493	994	8	0	27	35	0.00400802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0006	0	0.0002	0	0.0001	3.84e-05	1	26028	rs773157264	0.0013	0.0029	0.0013	0.0014	0.0027	0.0013	0.0012	0.0020	0.0019	0.0016	0.0014	0.0030	0.0025	0.0026	0.0027	0.0012	0.0024	0.0006	0.0056	0.0093	0.0068	0.0044	0.0079	0.0052	0.0050	0.0059	0.0056	0.0046	0.0065	0.0058	0.0047	0.0036	0.0043	0.0104	0.0066	0.0044	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	464.48	71	chr19	52384822	.	C	CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	464.48	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=553;ExcessHet=0;FS=14.227;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=56.75;MQRankSum=-3.166;QD=12.55;ReadPosRankSum=-0.764;SOR=3.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	6	0	1	3
chr19	52384824	52384824	-	GGTC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1244_1245insGGTC:p.A416Vfs*4	.	460	995	45	1	21	68	0.0230731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0057	0.0055	0.0061	0.0135	0.0084	0.0078	0.0072	3.84e-05	1	26028	rs752060609	4.129e-05	0.0002	3.922e-05	4.339e-05	0.0029	3.13e-05	2.787e-05	0.0016	0.0013	3.986e-05	0	0	0	0.0002	0.0029	2.828e-05	0	3.396e-05	0.0012	0.0055	0.0012	0.0011	0.0023	0.0010	0.0009	0.0011	0.0010	0.0007	0	0.0015	0	0.0014	0.0006	0	0.0014	0.0031	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	263.42	68	chr19	52384824	.	A	AGGTC	263.42	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.2;DP=562;ExcessHet=0;FS=22.615;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=59.84;MQRankSum=0.456;QD=3.56;ReadPosRankSum=-3.61;SOR=4.424	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	5	0	1	4
chr19	52384826	52384826	-	GAGATCGAGAC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1246_1247insGAGATCGAGAC:p.A416Gfs*17	.	475	1021	5	0	21	26	0.0024426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.0059	0.0058	0.0065	0.0145	0.0089	0.0081	0.0077	3.84e-05	1	26028	rs754636078	3.296e-05	0.0002	2.99e-05	3.603e-05	0.0022	2.35e-05	2.067e-05	0.0011	0.0008	4.215e-05	0	0	0	0.0002	0.0022	2.111e-05	0	3.582e-05	0.0008	0.0051	0.0010	0.0007	0.0017	0.0007	0.0006	0.0007	0.0006	0.0006	0	0.0012	0	0.0014	0	0	0.0009	0.0030	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	265.94	68	chr19	52384826	.	G	GGAGATCGAGAC	265.94	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=561;ExcessHet=0.2348;FS=29.038;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.083;MQ=59.11;MQRankSum=0.445;QD=2.05;ReadPosRankSum=-3.35;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	5	0	1	4
chr19	52384826	52384826	-	GTGAAAC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1246_1247insGTGAAAC:p.A416Gfs*5	.	475	1021	5	0	21	26	0.0024426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0	0.0004	0	0.0004	0	0.0003	3.84e-05	1	26028	rs754636078	0.0030	0.0085	0.0028	0.0033	0.0147	0.0030	0.0029	0.0139	0.0135	0.0028	0.0044	0.0043	0.0025	0.0030	0.0039	0.0021	0.0040	0.0147	0.0017	0.0062	0.0019	0.0014	0.0040	0.0014	0.0013	0.0019	0.0016	0.0010	0.0021	0.0013	0.0031	0.0010	0.0009	0	0.0021	0.0030	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	265.94	68	chr19	52384826	.	G	GGTGAAAC	265.94	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=561;ExcessHet=0.2348;FS=29.038;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.083;MQ=59.11;MQRankSum=0.445;QD=2.05;ReadPosRankSum=-3.35;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:41,0:41:99:.:.:0,105,1575:.	5	0	1	4
chr19	52415946	52415946	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1094A:p.R365H	.	400	1067	54	1	0	56	0.0255708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	.	0.0062	0.00698882	0.0109	0.0007	0.0039	0	0.0210	0.0096	0.0233	0.0282	0.0098382	1521	154602	rs142156816	0.0085	0.0085	0.0077	0.0093	0.0260	0.0084	0.0083	0.0251	0.0247	0.0014	0.0039	0.0280	2.519e-05	0.0226	0.0258	0.0065	0.0106	0.0260	0.0074	0.0074	0.0064	0.0085	0.0237	0.0071	0.0069	0.0202	0.0188	0.0011	0	0.0042	0.0289	0.0002	0.0231	0.0342	0.0078	0.0081	0.0237	0.176	0.22312	T	0.546	0.09555	T	0.956	0.54666	P	0.114	0.31755	B	.	.	.	.	1	0.08975	N	1.115	0.28702	L	1.54	0.30133	T	0.51	0.02898	N	0.028	0.00618	-1.0120	0.26291	T	0.023	0.09968	T	9	0.004389435	0.00089	T	.	.	.	0.132	0.35948	.	.	.	.	0.015923970449232903	0.01548	0.00915006470918	0.00832	0.254826724529	0.04293	T	0.00476	0.04174	T	-0.595046	0.00156	T	-0.607922	0.12154	T	0.0049661892188208	0.00053	T	0.127587	0.00998	T	0.03501476	0.04041	0.037924096	0.03550	0.03501476	0.04041	0.037924096	0.03549	-4.929	0.36060	T	.	.	0.197	0.41947	B	.	.	1.344308	0.17510	13.21	0.30149128901172884	0.01635	0.04522	0.10151	N	AEFBCI	0.029627	0.02830	N	-0.797295779312745	0.13380	0.6587443	-0.993186387495532	0.09937	0.4973981	9.35688065139829E-6	0.01202	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	2.08	-0.657	0.10858	-0.925000	0.04100	.	.	-0.245000	0.07249	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1644:0.229:0.6066:0.0	4.592	0.11703	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1016.43	34	chr19	52415946	.	G	A	1016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=500;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.541;SOR=0.558	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	9	0	1	0
chr19	52416068	52416068	G	A	exonic	ZNF528	.	nonsynonymous SNV	ZNF528:NM_032423:exon7:c.G1216A:p.E406K	.	421	1099	2	0	0	2	0.000909091	.	.	.	716664	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.203	.	0.0111	0.00978435	0.0031	0.0336	0.0021	0	0	0.0001	0.0056	0	0.0029689	459	154602	rs61997201	0.0010	0.0010	0.0011	0.0009	0.0322	0.0009	0.0009	0.0306	0.0299	0.0322	0.0026	0	0	0	0.0043	4.946e-05	0.0020	0.0001	0.0092	0.0092	0.0094	0.0090	0.0318	0.0088	0.0086	0.0303	0.0298	0.0318	0.0088	0.0039	0	0	0	0.0034	4.41e-05	0.0057	0	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.81001	D	1.66	0.42513	L	1.86	0.24285	T	-3.36	0.66549	D	0.136	0.13341	-1.0319	0.19841	T	0.031	0.13286	T	9	0.004878819	0.00104	T	.	.	.	0.203	0.48915	.	.	0.511907979761	0.50829	0.013010611711278805	0.01259	0.0590495618008	0.06558	0.347129583359	0.17499	T	0.115285	0.43376	T	-0.55737	0.00263	T	-0.547638	0.17553	T	0.0241147925947462	0.01159	T	0.540346	0.18307	T	0.2723458	0.50304	0.3510622	0.60706	0.2723458	0.50304	0.3510622	0.60706	-7.11	0.54832	T	.	.	0.475	0.63409	A	.	.	2.636881	0.34303	19.59	0.99767413990791265	0.85583	0.51027	0.28800	D	AEFBCI	0.318172	0.42195	N	0.052805968092687	0.44271	2.704252	-0.157686899341948	0.33113	1.89083	0.781812715402645	0.23857	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.615788	0.45269	1	.	.	2.08	2.08	0.26079	3.073000	0.49755	.	.	0.564000	0.28548	0.908000	0.31627	0.000000	0.08366	0.128000	0.19490	0.0:0.0:1.0:0.0	11.173	0.47808	988	0.01987	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.015152	0.014946	0.014620	0.000000	0.008621	0.000000	0.003788	0.05	1121.43	34	chr19	52416068	.	G	A	1121.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.451;DP=517;ExcessHet=0;FS=3.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.279;SOR=0.909	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1193	9	0	1	0
chr19	52511465	52511465	C	T	exonic	ZNF578	.	nonsynonymous SNV	ZNF578:NM_001099694:exon6:c.C1084T:p.R362C,ZNF578:NM_001366182:exon6:c.C1084T:p.R362C	.	0	224	2	0	0	2	0.00444444	.	.	.	2693308	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.00147225469559	7.7e-05	.	0.0002	0	0	0	0.0002	0.0004	0	6.057e-05	0.0002264	35	154602	rs200994015	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0005	0.0003	8.962e-05	0.0001	0	0	0.0002	0.0010	0.0003	0.0002	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	9.621e-05	0	0.0003	0	0	0	0.0034	0.0004	0.0005	0	.	.	.	0.031	0.53788	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	1.35	0.33515	L	2.21	0.18414	T	.	.	.	0.09	0.06854	-1.0177	0.24463	T	0.082	0.32148	T	7	0.054403603	0.05786	T	0.001472	0.02241	T	.	.	.	.	0.243972157842	0.24002	0.029594641613372535	0.02908	0.0845940308932	0.09560	.	.	.	0.013991	0.11998	T	-0.53721	0.00348	T	-0.65086	0.08894	T	0.122458937506422	0.14668	T	0.262274	0.04237	T	0.2704103	0.50113	0.17964076	0.40711	0.2704103	0.50113	0.17964076	0.40710	-5.343	0.40366	T	.	.	0.195	0.41557	B	.	.	1.614978	0.20630	14.84	0.89106050341668275	0.18516	0.02284	0.06582	N	AEFBI	0.049754	0.08629	N	-0.532024431405468	0.21051	1.114342	-0.788364451517187	0.14781	0.77408	1.38293913134505E-5	0.02871	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	1.48	0.041	0.13529	0.218000	0.17407	.	.	-0.383000	0.05380	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.2425:0.3287:0.2393:0.1895	0.493	0.00528	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3158.43	280	chr19	52511465	.	C	T	3158.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.56;DP=1167;ExcessHet=0;FS=1.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=-0.781;SOR=0.607	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1080	9	0	1	0
chr19	52613160	52613160	G	A	exonic	ZNF83	.	nonsynonymous SNV	ZNF83:NM_001277951:exon3:c.C1405T:p.R469C,ZNF83:NM_018300:exon3:c.C1405T:p.R469C,ZNF83:NM_001105552:exon4:c.C1405T:p.R469C,ZNF83:NM_001277946:exon4:c.C1405T:p.R469C,ZNF83:NM_001348016:exon4:c.C1405T:p.R469C,ZNF83:NM_001105550:exon5:c.C1405T:p.R469C,ZNF83:NM_001105551:exon5:c.C1405T:p.R469C,ZNF83:NM_001277948:exon5:c.C1405T:p.R469C,ZNF83:NM_001277949:exon5:c.C1405T:p.R469C,ZNF83:NM_001277952:exon5:c.C1405T:p.R469C,ZNF83:NM_001105549:exon6:c.C1405T:p.R469C,ZNF83:NM_001277945:exon6:c.C1405T:p.R469C,ZNF83:NM_001277947:exon6:c.C1405T:p.R469C,ZNF83:NM_001348018:exon6:c.C1405T:p.R469C,ZNF83:NM_001348015:exon7:c.C1405T:p.R469C,ZNF83:NM_001348017:exon7:c.C1405T:p.R469C,ZNF83:NM_001348019:exon7:c.C1405T:p.R469C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0056669528179	.	0.000199681	2.471e-05	0.0003	0	0	0	0	0	0	2.59e-05	4	154602	rs571856338	1.095e-05	1.094e-05	1.361e-05	8.252e-06	5.975e-05	6.48e-06	5.24e-06	9.9e-06	3.7e-06	5.975e-05	2.238e-05	0	0	0	0	8.994e-06	4.968e-05	0	5.296e-05	5.269e-05	5.178e-05	5.42e-05	0.0002	2.574e-05	1.842e-05	9.629e-05	7.008e-05	0.0002	0	0	0	0	0	0	0	0	0	0.314	0.13834	T	0.166	0.30828	T	0.998	0.73220	D	0.588	0.50402	P	.	.	.	.	1	0.08975	N	1.035	0.25616	L	1.55	0.29866	T	-1.89	0.44094	N	0.07	0.08227	-1.0740	0.08556	T	0.075	0.30055	T	9	0.07459533	0.11421	T	0.005667	0.14681	T	0.020	0.03691	.	.	0.0920862733494	0.08535	0.023818780567737338	0.02332	0.127965630687	0.14428	.	.	.	0.026187	0.19430	T	-0.516844	0.00459	T	-0.700752	0.05784	T	0.0278044023908634	0.01659	T	0.20228	0.02325	T	0.0379109	0.04951	0.031820226	0.01825	0.0379109	0.04951	0.031820226	0.01825	-6.024	0.46480	T	.	.	0.265	0.49922	B	.;.;.;.;.	.;.;.;.;.	0.498641	0.08677	5.449	0.97401092545364965	0.33775	0.01896	0.05817	N	AEFGBCI	0.040358	0.05992	N	-1.17492210835473	0.05381	0.2451717	-1.42300022151343	0.03023	0.1402449	0.00145537947931807	0.08551	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	1.97	-3.94	0.03856	-1.842000	0.01775	.	.	-5.762000	0.00007	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2474:0.0:0.17:0.5826	4.097	0.09470	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2039.43	36	chr19	52613160	.	G	A	2039.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.582;DP=509;ExcessHet=0;FS=2.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-1.525;SOR=0.516	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1094	9	0	1	0
chr19	52706036	52706036	T	C	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon5:c.A1019G:p.E340G,ZNF611:NM_001161501:exon5:c.A812G:p.E271G,ZNF611:NM_001161499:exon6:c.A1019G:p.E340G,ZNF611:NM_030972:exon7:c.A1019G:p.E340G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0057	0.00539137	0.0017	0.0187	0.0006	0	0	2.999e-05	0	0	0.0015977	247	154602	rs4087790	0.0005	0.0005	0.0006	0.0004	0.0176	0.0005	0.0005	0.0164	0.0160	0.0176	0.0011	0	0	0	0.0009	1.799e-05	0.0010	1.159e-05	0.0049	0.0049	0.0051	0.0047	0.0169	0.0046	0.0045	0.0158	0.0154	0.0169	0	0.0024	0	0	0	0	2.94e-05	0.0033	0	0.0	0.91255	D	0.017	0.60337	D	0.752	0.43309	P	0.561	0.49582	P	.	.	.	.	0.995968	0.23152	N	2.395	0.69210	M	2.08	0.20255	T	-5.56	0.86296	D	0.132	0.13484	-1.0485	0.14818	T	0.046	0.19800	T	9	0.003975421	0.00077	T	.	.	.	0.060	0.17295	.	.	0.501060295512	0.49743	0.014385139974164988	0.01395	0.134211828644	0.15117	0.253722727299	0.04170	T	0.036139	0.23989	T	-0.524525	0.00414	T	-0.511284	0.21183	T	0.139155205949128	0.16202	T	0.10049	0.00746	T	0.1753298	0.38386	0.22448131	0.47361	0.1753298	0.38386	0.22448131	0.47360	-6.898	0.53284	T	.	.	0.113	0.22282	B	.;.;.;.;.;.	.;.;.;.;.;.	2.162928	0.27555	17.50	0.97220792762563935	0.32901	0.24888	0.22532	N	AEFBCI	0.249267	0.36953	N	-0.323688471262654	0.28251	1.556671	-0.587952893062773	0.19806	1.064351	0.0026259405185001	0.09584	0.562547	0.31514	0	0.653731	0.59785	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	1.53	1.53	0.22224	3.105000	0.50005	.	.	0.361000	0.20101	0.164000	0.23853	0.000000	0.08366	0.002000	0.04165	0.2686:0.0:0.0:0.7314	4.946	0.13341	923	0.18507	.;Zinc finger C2H2-type;Zinc finger C2H2-type;.;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	2543.43	33	chr19	52706036	.	T	C	2543.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=516;ExcessHet=0;FS=1.135;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=1.8;SOR=0.801	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1227	9	0	1	0
chr19	52906302	52906302	A	T	exonic	ZNF888	.	nonsynonymous SNV	ZNF888:NM_001384656:exon3:c.T1912A:p.Y638N,ZNF888:NM_001310127:exon4:c.T2020A:p.Y674N,ZNF888:NM_001384652:exon5:c.T2077A:p.Y693N,ZNF888:NM_001384653:exon5:c.T2020A:p.Y674N,ZNF888:NM_001384655:exon5:c.T1912A:p.Y638N,ZNF888:NM_001384654:exon6:c.T1912A:p.Y638N	.	2	222	2	0	0	2	0.0044843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs377511797	1.232e-05	1.231e-05	1.635e-05	8.257e-06	0.0002	7.7e-06	6.36e-06	9.757e-05	6.955e-05	0.0002	0	0	0	0	0.0002	0	0.0001	2.325e-05	2.651e-05	2.634e-05	1.296e-05	4.069e-05	7.299e-05	8.19e-06	5.18e-06	1.935e-05	1.036e-05	7.299e-05	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08752164	0.14981	T	.	.	.	.	.	.	.	.	.	0.00316250429346427	0.00295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285671	0.05095	T	0.039784748	0.05556	0.06783965	0.14089	0.039784748	0.05556	0.06783965	0.14088	-0.402	0.00527	T	.	.	0.248	0.48261	B	.	.	-0.753600	0.01202	0.059	0.58321992640919562	0.05967	0.00097	0.00633	N	AEFBI	.	.	.	.	.	.	.	.	.	3.70800120584567E-5	0.03775	0.156188	0.03335	0	0.156173	0.03658	0	0.231514	0.04749	0	0.117559	0.03655	0	0.0492226	0.08869	1.71	-3.41	0.04535	-0.982000	0.03873	.	.	-1.538000	0.00984	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1803:0.1318:0.3503:0.3375	1.030	0.01441	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1887.43	35	chr19	52906302	.	A	T	1887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.163;DP=737;ExcessHet=0;FS=13.455;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=0.065;SOR=1.076	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,103,1220	9	0	1	0
chr19	53068979	53068979	T	C	exonic	ZNF160	.	nonsynonymous SNV	ZNF160:NM_001322136:exon5:c.A1555G:p.S519G,ZNF160:NM_001322129:exon6:c.A1555G:p.S519G,ZNF160:NM_001322131:exon6:c.A1555G:p.S519G,ZNF160:NM_001322135:exon6:c.A1555G:p.S519G,ZNF160:NM_033288:exon6:c.A1555G:p.S519G,ZNF160:NM_001102603:exon7:c.A1555G:p.S519G,ZNF160:NM_001322128:exon7:c.A1555G:p.S519G,ZNF160:NM_001322130:exon7:c.A1555G:p.S519G,ZNF160:NM_001322132:exon7:c.A1555G:p.S519G,ZNF160:NM_001322133:exon7:c.A1555G:p.S519G,ZNF160:NM_001322134:exon7:c.A1555G:p.S519G,ZNF160:NM_001322138:exon7:c.A1447G:p.S483G,ZNF160:NM_198893:exon7:c.A1555G:p.S519G,ZNF160:NM_001322137:exon8:c.A1447G:p.S483G,ZNF160:NM_001322139:exon9:c.A1447G:p.S483G	.	362	1151	8	1	0	10	0.00432526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00209075876345	.	0.000199681	0.0003	0	0	0	0	2.997e-05	0	0.0018	0.000207	32	154602	rs200276728	0.0001	0.0001	6.806e-05	0.0002	0.0016	0.0001	9.833e-05	0.0014	0.0013	0	0	0	0	0	0.0002	1.888e-05	0.0002	0.0016	4.598e-05	4.594e-05	2.571e-05	6.717e-05	0.0010	2.109e-05	1.526e-05	0.0004	0.0003	0	0	0	0	0	0	0	2.941e-05	0	0.0010	0.172	0.22660	T	0.159	0.35455	T	0.998	0.73220	D	0.796	0.58006	P	.	.	.	.	1	0.08975	N	1.06	0.26948	L	3.18	0.07478	T	-3.08	0.63323	D	0.048	0.02861	-1.0088	0.27292	T	0.019	0.07893	T	9	0.013474643	0.00286	T	0.002091	0.03855	T	0.047	0.12962	0.464	0.53404	0.171388866994	0.16791	0.040058727402730844	0.03951	0.749576938025	0.63700	0.295720815659	0.09765	T	0.131981	0.46179	T	-0.610948	0.00125	T	-0.657145	0.08460	T	0.0872179200446261	0.10885	T	0.79772	0.44184	T	0.15585148	0.35202	0.10675747	0.25688	0.15585148	0.35201	0.10675747	0.25688	-5.482	0.41700	T	.	.	0.316	0.54213	B	.;.;.;.;.	.;.;.;.;.	1.752434	0.22296	15.56	0.97398537508219962	0.33760	0.00153	0.00922	N	AEFBCI	0.041226	0.06238	N	-0.626760234602297	0.18144	0.9396112	-0.84322114708684	0.13450	0.6978239	2.70257518746824E-4	0.06244	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.41	0.082	0.13739	0.629000	0.24229	.	.	0.643000	0.52288	0.007000	0.17678	0.000000	0.08366	0.299000	0.24476	0.1991:0.2596:0.0:0.5412	2.655	0.04705	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2302.43	34	chr19	53068979	.	T	C	2302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.245;DP=677;ExcessHet=0;FS=1.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=1.07;QD=13.87;ReadPosRankSum=0.9;SOR=0.554	GT:AD:DP:GQ:PL	0/1:78,88:166:99:2314,0,2028	9	0	1	0
chr19	53140820	53140820	T	C	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.A2011G:p.R671G,ZNF347:NM_001172675:exon5:c.A2011G:p.R671G,ZNF347:NM_032584:exon5:c.A2008G:p.R670G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00137988342975	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs758767285	3.147e-05	3.215e-05	2.314e-05	3.988e-05	0.0005	2.412e-05	2.158e-05	0.0001	0.0001	0	0	0	0	0	0.0005	2.069e-05	3.312e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	0.06891	T	0.388	0.15602	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.84	0.48285	L	3.21	0.07125	T	-1.25	0.31576	N	0.071	0.06454	-1.0214	0.23259	T	0.010	0.03627	T	9	0.06141916	0.07696	T	0.00138	0.02011	T	0.003	0.00094	.	.	0.110078149338	0.10416	0.0260525662969961	0.02556	0.0131583040169	0.01267	0.246135801077	0.03372	T	0.059541	0.31144	T	-0.516432	0.00461	T	-0.742927	0.03769	T	0.306434094905853	0.25267	T	0.0506949	0.00362	T	0.08044055	0.18431	0.05891121	0.10967	0.08044055	0.18430	0.05891121	0.10966	-6.919	0.53440	T	.	.	0.528	0.65846	A	.;.;.	.;.;.	0.244292	0.06242	2.695	0.77692016682137022	0.11982	0.00448	0.02174	N	AEFGBCI	0.062020	0.11895	N	-1.87483198791765	0.00387	0.01661762	-2.04148436257142	0.00250	0.01101303	0.857081371931328	0.25154	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	2.94	-5.89	0.02093	-9.588000	0.00014	.	.	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.3956:0.2999:0.1988:0.1057	2.326	0.03965	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1985.43	35	chr19	53140820	.	T	C	1985.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.736;DP=504;ExcessHet=0;FS=0.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=-0.868;QD=14.49;ReadPosRankSum=0.128;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1293	9	0	1	0
chr19	53165697	53165697	T	C	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.A793G:p.N265D,ZNF665:NM_024733:exon4:c.A793G:p.N265D,ZNF665:NM_001353457:exon5:c.A787G:p.N263D,ZNF665:NM_001353458:exon5:c.A877G:p.N293D	.	383	1138	1	0	0	1	0.000439174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0070	0.00539137	0.0018	0.0209	8.637e-05	0	0	2.997e-05	0	0.0001	0.0017141	265	154602	rs79224520	0.0005	0.0005	0.0005	0.0004	0.0174	0.0005	0.0004	0.0162	0.0157	0.0174	0.0008	0	0	0	0.0005	2.338e-05	0.0010	2.319e-05	0.0050	0.0050	0.0053	0.0047	0.0175	0.0047	0.0046	0.0164	0.0160	0.0175	0	0.0021	0	0	0	0	4.41e-05	0.0024	0	0.24	0.17701	T	0.164	0.31026	T	0.004	0.12183	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.495	0.02627	N	2.38	0.15843	T	-2.56	0.55339	D	0.059	0.05287	-0.9744	0.36257	T	0.009	0.03140	T	9	0.0029756725	0.00048	T	.	.	.	0.039	0.10176	.	.	0.128392430309	0.12331	0.015205824773005841	0.01476	0.0318536855555	0.03304	0.280150294304	0.07513	T	0.049407	0.28298	T	-0.7782	0.00011	T	-0.875011	0.00697	T	0.00729956563191857	0.00084	T	0.0719928	0.00526	T	0.28612664	0.51631	0.23860982	0.49188	0.28612664	0.51630	0.23860982	0.49187	.	.	.	.	.	0.115	0.25166	B	.;.	.;.	1.154671	0.15429	11.84	0.95898492381716982	0.28123	0.00353	0.01817	N	AEFDBHCI	0.071163	0.14156	N	-1.08309207512457	0.06954	0.3216486	-1.0943778836598	0.07810	0.3813942	1.06917366472756E-5	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	2.31	1.24	0.20416	-2.265000	0.01254	.	.	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.216000	0.22352	0.2114:0.1431:0.2154:0.4301	0.427	0.00433	994	0.00715	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001058	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1362.43	119	chr19	53165697	.	T	C	1362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=1037;ExcessHet=0;FS=1.958;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-2.149;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:75,0:75:99:.:.:0,120,1800:.	9	0	1	0
chr19	53259064	53259064	A	-	exonic	VN1R2	.	frameshift deletion	VN1R2:NM_173856:exon1:c.689delA:p.Y230Lfs*36	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1938.39	39	chr19	53259063	.	TA	T	1938.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.556;DP=469;ExcessHet=0;FS=2.266;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=-0.561;SOR=0.515	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	9	0	1	0
chr19	53267316	53267316	G	C	exonic	VN1R4	.	nonsynonymous SNV	VN1R4:NM_173857:exon1:c.C350G:p.A117G	.	429	996	97	0	0	97	0.0464337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0745	.	0.0723	0.1661	0.0578	0.1678	0.0343	0.0512	0.0526	0.0748	0.0574507	8882	154602	rs74359534	0.0001	0.0012	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0002	0.0005	2.243e-05	3.834e-05	0.0003	0.0005	0	8.66e-05	0.0002	0.0002	0.0005	0.0022	0.0004	0.0006	0.0016	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0002	0.0003	0.0016	0.0002	0	0.0002	0.0005	0.0013	0.022	0.48642	D	0.031	0.53788	D	.	.	.	.	.	.	0.544248	0.05332	N	1.356640	1	0.08975	N	.	.	.	1.22	0.37052	T	-2.67	0.57110	D	0.067	0.03956	-0.9924	0.31985	T	0.002	0.00526	T	10	0.0025487542	0.00039	T	.	.	.	0.048	0.13305	.	.	.	.	0.05313922711391094	0.05255	0.384759530948	0.39774	0.249634504318	0.03729	T	.	.	.	-0.723375	0.00026	T	-0.704733	0.05570	T	0.0342202795027098	0.02675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12084	B	.	.	1.325632	0.17306	13.08	0.87963315563257027	0.17613	0.00907	0.03546	N	AEFGBI	0.029181	0.02709	N	-0.884326474785515	0.11215	0.5400046	-1.06817902281054	0.08332	0.4092313	4.69142761911595E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.28	-0.254	0.12350	0.747000	0.25956	.	.	-0.917000	0.02218	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.4302:0.3517:0.2182	5.387	0.15525	994	0.00715	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.090131	0.111111	0.103261	0.064327	0.050000	0.077586	0.091463	0.087121	0.1	1041.14	44	chr19	53267316	.	G	C	1041.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.954;DP=817;ExcessHet=0.2348;FS=2.179;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=50.6;MQRankSum=-9.454;QD=2.36;ReadPosRankSum=3.25;SOR=0.573	GT:AD:DP:GQ:PL	0/0:52,0:52:99:0,120,1800	8	0	2	0
chr19	53351964	53351964	G	A	exonic	ZNF845	.	nonsynonymous SNV	ZNF845:NM_138374:exon4:c.G1289A:p.R430H,ZNF845:NM_001321522:exon5:c.G1289A:p.R430H,ZNF845:NM_001321523:exon5:c.G1289A:p.R430H,ZNF845:NM_001321524:exon5:c.G1289A:p.R430H	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00102895212837	0.0004	0.000399361	0.0003	0.0008	0.0003	0	0	6.02e-05	0	0.0015	0.0002781	43	154602	rs376557003	0.0001	0.0001	9.529e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0.0003	8.945e-05	3.827e-05	0	0	0.0009	3.867e-05	0.0002	0.0013	0.0002	0.0002	0.0002	0.0003	0.0019	0.0002	0.0002	0.0010	0.0007	0.0005	0	0.0001	0	0	9.445e-05	0	5.884e-05	0	0.0019	0.139	0.25768	T	0.167	0.30729	T	0.028	0.19712	B	0.036	0.22909	B	.	.	.	.	1	0.08975	N	1.005	0.25186	L	1.26	0.36330	T	-0.77	0.21429	N	0.042	0.02658	-1.0109	0.26635	T	0.056	0.23413	T	9	0.012166947	0.00262	T	0.001029	0.01144	T	0.004	0.00165	.	.	0.0806252709748	0.07271	0.034721129528890435	0.03419	0.206282902371	0.23055	0.192700564861	0.00277	T	0.001982	0.01394	T	-0.638461	0.00085	T	-0.735433	0.04086	T	0.00375390209304877	0.00040	T	0.948805	0.80311	D	0.020439645	0.00602	0.030393867	0.01490	0.020439645	0.00602	0.030393867	0.01490	-5.937	0.45749	T	.	.	0.117	0.23814	B	.;.	.;.	0.024079	0.04450	1.175	0.9180740453976769	0.21114	0.00560	0.02552	N	AEFBI	0.016032	0.00337	N	-1.29779017112939	0.03703	0.1658628	-1.41217129364416	0.03129	0.1453832	3.37234305476604E-4	0.06583	0.562547	0.31514	0	0.546412	0.12157	0	0.575934	0.27490	0	0.635551	0.53088	0	.	.	1.9	-0.996	0.09696	-0.516000	0.06367	.	.	-1.220000	0.01339	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5171:0.0:0.2842:0.1987	2.676	0.04766	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001057	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.003788	0.05	2412.43	160	chr19	53351964	.	G	A	2412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=677;ExcessHet=0;FS=1.072;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.42;MQRankSum=-0.247;QD=11.6;ReadPosRankSum=-1.378;SOR=0.788	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1244	9	0	1	0
chr19	53353432	53353433	GT	-	exonic	ZNF845	.	frameshift deletion	ZNF845:NM_138374:exon4:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321522:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321523:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321524:exon5:c.2757_2758del:p.C920Wfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0002	0	0.0015	0.0002329	36	154602	rs779634863	0.0001	0.0001	8.441e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	2.237e-05	0.0014	0	0	0.0007	2.248e-05	0.0003	0.0013	9.196e-05	9.187e-05	7.713e-05	0.0001	0.0015	5.526e-05	4.363e-05	0.0007	0.0005	0	0	0	0.0009	0	0	0	4.411e-05	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1814.39	37	chr19	53353431	.	AGT	A	1814.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.555;DP=490;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.088;SOR=0.588	GT:AD:DP:GQ:PL	0/0:56,0:56:99:0,120,1800	9	0	1	0
chr19	53890002	53890002	G	A	exonic	PRKCG	.	nonsynonymous SNV	PRKCG:NM_001316329:exon5:c.G514A:p.E172K,PRKCG:NM_002739:exon5:c.G514A:p.E172K	Spinocerebellar ataxia 14, Autosomal dominant	5	1514	3	0	0	3	0.000989772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.127978717015	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1443767012	5.657e-06	5.472e-06	2.798e-06	8.579e-06	0.0004	2.43e-06	1.76e-06	7.878e-05	3.21e-05	0	0	0	0	0	0.0004	0	3.419e-05	4.969e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.995722	0.42826	D	-0.48	0.02689	N	-0.94	0.75325	T	0.31	0.04022	N	0.178	0.19190	-1.0376	0.18048	T	0.041	0.17446	T	8	0.14105639	0.26806	T	0.127979	0.80986	D	0.110	0.31079	0.534	0.64293	0.738385687522	0.73604	0.6790032872285526	0.67839	1.5806642636	0.88385	0.761054813862	0.76085	T	0.175726	0.52541	T	-0.0221309	0.48548	T	-0.269566	0.47862	T	0.14738835874272	0.16894	T	0.59614	0.40460	T	0.2094736	0.43216	0.14154191	0.33703	0.2094736	0.43215	0.14154191	0.33702	-2.479	0.05640	T	0.06574076316535618	0.02191	0.133	0.28835	B	.;.	.;.	2.730534	0.35742	19.98	0.81435273496656857	0.13684	0.50257	0.28621	D	ALL	0.500656	0.53382	D	-0.359755500768041	0.26916	1.472695	-0.172676474489549	0.32546	1.85269	0.999999999999972	0.74766	0.72623	0.87236	0	0.578056	0.33634	0	0.594344	0.31042	0	0.553173	0.17726	1	.	.	4.75	4.75	0.59954	1.937000	0.39821	.	.	0.672000	0.70159	0.987000	0.36337	1.000000	0.68203	0.187000	0.21511	0.0:0.0:1.0:0.0	15.637	0.76716	994	0.00715	C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	483.43	33	chr19	53890002	.	G	A	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.154;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.15;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1172	9	0	1	0
chr19	53998287	53998287	G	A	exonic	CACNG6	.	nonsynonymous SNV	CACNG6:NM_145814:exon2:c.G380A:p.R127H,CACNG6:NM_145815:exon2:c.G380A:p.R127H	.	.	.	.	.	.	.	.	.	.	.	2215440	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.024	0.00540006137836	7.7e-05	.	7.44e-05	0	0.0005	0	0	4.511e-05	0	0	7.76e-05	12	154602	rs113933127	3.421e-05	3.42e-05	3.812e-05	3.025e-05	0.0003	2.631e-05	2.375e-05	0.0001	0.0001	0.0003	0.0002	0	0	0	0	2.698e-05	0	1.159e-05	5.256e-05	5.25e-05	5.142e-05	5.375e-05	0.0001	2.557e-05	1.83e-05	4.732e-05	3.049e-05	0.0001	0	6.544e-05	0	0	0	0	2.941e-05	0	0	0.166	0.23183	T	0.528	0.12562	T	0.001	0.07471	B	0.001	0.04355	B	0.297160	0.14663	N	0.633990	1	0.20103	N	1.735	0.44892	L	1.52	0.30669	T	0.47	0.03352	N	0.118	0.20793	-1.0821	0.06946	T	0.035	0.14900	T	10	0.024690866	0.00688	T	0.005	0.13862	T	0.024	0.04979	.	.	0.17258766438	0.16869	0.3994814461888703	0.39863	0.609390119141	0.55673	0.217751145363	0.01184	T	0.021242	0.16575	T	-0.53176	0.00375	T	-0.704054	0.05606	T	0.0226135645061731	0.00978	T	0.748825	0.40277	T	0.026247876	0.01658	0.04861786	0.07258	0.026247876	0.01657	0.04861786	0.07257	-5.128	0.38201	T	.	.	0.067	0.04159	B	.;.	.;.	-0.413192	0.02164	0.211	0.87930942361653985	0.17589	0.00916	0.03571	N	AEFDBI	0.033651	0.04033	N	-1.5302080840591	0.01654	0.072346	-1.54871263411618	0.01985	0.09066822	0.99816564220091	0.36515	0.615465	0.37627	0	0.547309	0.14657	0	0.61531	0.40942	0	0.655142	0.61905	0	.	.	5.36	-6.34	0.01808	-1.156000	0.03270	.	.	-0.641000	0.04447	0.000000	0.06391	0.000000	0.08366	0.238000	0.22948	0.2834:0.0:0.7166:0.0	16.540	0.84230	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	737.43	36	chr19	53998287	.	G	A	737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.669;DP=393;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.177;SOR=0.571	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	9	0	1	0
chr19	54155759	54155759	G	A	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.C757T:p.R253W	.	417	1100	4	1	0	6	0.00271985	.	.	.	3984386	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.371	0.117704580639	.	.	0.0002	0	0.0001	0	0	0.0001	0.0015	0.0004	0.0001035	16	154602	rs777385300	6.039e-05	6.02e-05	6.006e-05	6.072e-05	0.0009	4.977e-05	4.641e-05	0.0004	0.0002	0	6.77e-05	0	0	0	0.0009	3.78e-05	0.0001	0.0004	5.916e-05	5.91e-05	5.14e-05	6.728e-05	0.0001	3.078e-05	2.211e-05	5.845e-05	4.241e-05	0	0	6.545e-05	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.001	0.83351	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999949	0.51968	D	.	.	.	0.33	0.58323	T	-5.92	0.88963	D	0.367	0.40864	-0.7886	0.55811	T	0.198	0.55315	T	10	0.33208445	0.50420	T	0.117705	0.79755	D	0.371	0.69016	.	.	0.747070109847	0.74478	0.4820694658901529	0.48126	0.181823898196	0.20437	0.429835557938	0.29185	T	.	.	.	-0.0657476	0.42004	T	-0.0262417	0.68617	D	0.776181101799011	0.44814	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.222	0.45285	B	.	.	4.393390	0.67818	25.1	0.99897115577812612	0.96971	0.88645	0.48671	D	AEFBCI	0.567521	0.57307	D	0.105500638150517	0.46719	2.908028	0.0904711565519992	0.44068	2.695745	0.996197280061498	0.34585	0.631515	0.41029	0	0.697927	0.68747	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	4.81	1.34	0.21018	1.701000	0.37444	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0954:0.0:0.5453:0.3593	5.367	0.15423	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	817.43	34	chr19	54155759	.	G	A	817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.827;DP=404;ExcessHet=0;FS=0.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.13;SOR=0.906	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,922	9	0	1	0
chr19	54155817	54155817	T	G	exonic	LENG1	.	nonsynonymous SNV	LENG1:NM_024316:exon4:c.A699C:p.E233D	.	418	1098	6	0	0	6	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00331538677278	0.0009	0.000599042	0.0009	0.0008	0.0007	0.0023	0	0.0009	0.0027	0.0005	0.000705	109	154602	rs146921339	0.0006	0.0006	0.0006	0.0006	0.0042	0.0005	0.0005	0.0029	0.0024	0.0008	0.0008	0	0.0013	1.9e-05	0.0042	0.0005	0.0008	0.0005	0.0006	0.0006	0.0007	0.0005	0.0019	0.0005	0.0004	0.0010	0.0007	0.0008	0	0.0003	0	0.0012	0	0.0034	0.0005	0.0009	0.0019	0.41	0.10148	T	0.202	0.27414	T	.	.	.	.	.	.	0.000931	0.00711	N	10.451800	0.999996	0.08975	N	.	.	.	0.82	0.48142	T	-1.1	0.28497	N	0.09	0.06854	-0.9557	0.39970	T	0.169	0.50842	T	10	0.004676223	0.00098	T	0.003315	0.07359	T	0.062	0.17934	0.11	0.02049	0.33835085245	0.33439	0.16810999960807635	0.16730	0.0208642183432	0.02063	0.48943144083	0.37359	T	.	.	.	-0.579198	0.00195	T	-0.623769	0.10891	T	0.0190144803108184	0.00610	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10304	B	.	.	-0.575392	0.01640	0.114	0.97684303309218157	0.35335	0.15684	0.19032	N	AEFDBHCI	0.093529	0.18923	N	-1.2269822642748	0.04612	0.2085157	-1.38205659021072	0.03443	0.160615	0.999945673737073	0.47345	0.631515	0.41029	0	0.697927	0.68747	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.17	-2.72	0.05616	-3.251000	0.00597	.	.	-0.915000	0.02235	0.000000	0.06391	0.052000	0.21854	0.003000	0.05239	0.0:0.3636:0.1387:0.4978	5.792	0.17630	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001517	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	672.43	34	chr19	54155817	.	T	G	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.042;DP=387;ExcessHet=0;FS=2.208;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.637;SOR=0.404	GT:AD:DP:GQ:PL	0/1:27,32:59:99:684,0,659	9	0	1	0
chr19	54172000	54172002	CCC	-	exonic	TMC4	.	nonframeshift deletion	TMC4:NM_001145303:exon2:c.179_181del:p.G60del,TMC4:NM_144686:exon2:c.161_163del:p.54_55del	.	398	1114	8	1	1	11	0.00446828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0182	0.0227636	0.0136	0.0034	0.0363	0.0970	0.0269	0.0019	0.0133	0.0018	0.0046104	120	26028	rs140898828	0.0052	0.0053	0.0055	0.0049	0.0968	0.0051	0.0051	0.0942	0.0932	0.0029	0.0324	0.0027	0.0968	0.0262	0.0003	0.0003	0.0054	0.0016	0.0086	0.0087	0.0066	0.0108	0.0849	0.0082	0.0081	0.0783	0.0757	0.0031	0	0.0221	0.0017	0.0849	0.0284	0	0.0009	0.0095	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.000000	0.000000	0.002924	0.000000	0.000000	0.018293	0.003788	0.05	1125.39	37	chr19	54171999	.	GCCC	G	1125.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.141;DP=382;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.86;ReadPosRankSum=-0.895;SOR=0.648	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1034	9	0	1	0
chr19	54221344	54221344	-	CGG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.693_694insCCG:p.G232_A630delinsPGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.693_694insCCG:p.G232delinsPG,LILRB3:NM_006864:exon5:c.693_694insCCG:p.S232_L604delinsPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	35	1231	253	3	0	259	0.0951856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0028	0.0001	0.0001	0.0014	0.0001	0.0001	0.0011	0.0009	0.0009	0.0014	8.203e-05	0.0007	8.106e-05	0.0002	7.586e-05	0.0002	7.712e-05	0.0002	0.0038	0.0002	0.0002	0.0006	0.0001	0.0001	0.0003	0.0003	0.0005	0	0.0002	0	0.0006	0	0	2.989e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	102.39	52	chr19	54221344	.	C	CCGG	102.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=476;ExcessHet=0;FS=17.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.69;MQRankSum=1.29;QD=2.77;ReadPosRankSum=-2.172;SOR=3.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,5:37:99:0|1:54221256_T_C:114,0,1329:54221256	9	0	1	0
chr19	54221348	54221348	-	ACTGAG	exonic	LILRB3	.	nonframeshift insertion	LILRB3:NM_001081450:exon5:c.689_690insCTCAGT:p.Q231_A630delinsSVQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*,LILRB3:NM_001320960:exon5:c.689_690insCTCAGT:p.L230delinsLSV,LILRB3:NM_006864:exon5:c.689_690insCTCAGT:p.K230_L604delinsNSVPSLLTLQGPVLAPGQSLTLQCGSDVGYDRFVLYKEGERDFLQRPGQQPQAGLSQANFTLGPVSRSYGGQYRCYGAHNLSSEWSAPSDPLDILITGQIYDTVSLSAQPGPTVASGENVTLLCQSRGYFDTFLLTKEGAAHPPLRLRSMYGAHKYQAEFPMSPVTSAHAGTYRCYGSRSSNPHLLSFPSEPLELMVSGHSGGSSLPPTGPPSTPGLGRYLEVLIGVSVAFVLLLFLLLFLLLRRQRHSKHRTSDQRKTDFQRPAGAAETEPKDRGLLRRSSPAADVQEENLYAAVKDTQSEDRVELDSQSPHDEDPQAVTYAPVKHSSPRREMASPPSSLSGEFLDTKDRQVEEDRQMDTEAAASEASQDVTYAQLHSLTLRRKATEPPPSQEGEPPAEPSIYATLAIH*	.	40	1377	86	2	17	107	0.0316456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.611e-05	0.0006	2.863e-05	2.352e-05	0.0004	1.911e-05	1.696e-05	0.0002	0.0002	0.0003	0.0004	0	8.523e-05	4.043e-05	0	6.539e-06	3.528e-05	2.565e-05	2.706e-05	0.0007	0	5.539e-05	7.634e-05	8.32e-06	5.26e-06	2.024e-05	1.061e-05	7.634e-05	0	0	0	0	0	0	1.488e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	102.39	47	chr19	54221348	.	C	CACTGAG	102.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.638;DP=464;ExcessHet=0;FS=17.065;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.96;MQRankSum=1.18;QD=2.77;ReadPosRankSum=-2.189;SOR=3.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,5:37:99:0|1:54221256_T_C:114,0,1309:54221256	9	0	1	0
chr19	54274798	54274798	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon13:c.C1334T:p.T445I,LILRB2:NM_001080978:exon14:c.C1679T:p.T560I,LILRB2:NM_001278403:exon14:c.C1679T:p.T560I,LILRB2:NM_005874:exon14:c.C1682T:p.T561I	.	10	1511	1	0	0	1	0.000330797	.	.	.	2193765	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.138	0.00471035166838	0.0005	0.000199681	9.885e-05	0.0011	8.637e-05	0	0	0	0	0	9.7e-05	15	154602	rs111579555	5.473e-05	5.472e-05	6.534e-05	4.4e-05	0.0013	4.477e-05	4.147e-05	0.0010	0.0008	0.0013	2.236e-05	0	0	0	0	0	0.0006	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0.0005	0	0.064	0.38185	T	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	6.28	0.00561	T	-3.05	0.65171	D	0.285	0.39254	-0.9821	0.34515	T	0.003	0.01026	T	9	0.056836396	0.06434	T	0.00471	0.11722	T	0.138	0.37187	.	.	0.339316883193	0.33537	0.2502560241872246	0.24939	0.0541991921509	0.05990	0.576643645763	0.49613	T	.	.	.	-0.471694	0.00829	T	-0.50668	0.21657	T	0.0550931821369486	0.06373	T	0.776822	0.40920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.50481	B	.;.;.;.	.;.;.;.	2.334774	0.29912	18.27	0.9711247467198364	0.32417	0.49752	0.28505	N	AEFBI	0.173827	0.30092	N	-0.33866266530532	0.27691	1.521322	-0.391209350245484	0.25258	1.387943	0.226338654326415	0.18414	0.615755	0.39536	0	0.610034	0.51514	0	0.618376	0.41669	0	0.542086	0.14980	0	.	.	1.31	1.31	0.20837	3.334000	0.51814	.	.	0.601000	0.45875	0.321000	0.25511	0.290000	0.24159	0.255000	0.23391	0.0:0.0:1.0:0.0	6.172	0.19638	994	0.00715	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000529	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1273.43	34	chr19	54274798	.	G	A	1273.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.985;DP=425;ExcessHet=0;FS=9.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.29;MQRankSum=-0.355;QD=12.36;ReadPosRankSum=-0.974;SOR=1.504	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,108,1543	9	0	1	0
chr19	54277919	54277919	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon7:c.C931T:p.P311S,LILRB2:NM_001278405:exon7:c.C1279T:p.P427S,LILRB2:NM_001278406:exon7:c.C1279T:p.P427S,LILRB2:NM_001080978:exon8:c.C1279T:p.P427S,LILRB2:NM_001278403:exon8:c.C1279T:p.P427S,LILRB2:NM_005874:exon8:c.C1279T:p.P427S	.	9	1511	2	0	0	2	0.000661376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0016	0.00239617	0.0015	0.0101	0	0	0	0.0001	0	0	0.0004075	63	154602	rs148321423	0.0003	0.0003	0.0003	0.0002	0.0063	0.0002	0.0002	0.0055	0.0053	0.0063	0.0005	0	0	0.0002	0.0005	8.942e-05	0.0009	2.57e-05	0.0019	0.0019	0.0018	0.0019	0.0063	0.0017	0.0016	0.0056	0.0054	0.0063	0	0.0006	0	0	9.407e-05	0	0.0001	0.0014	0	0.498	0.07797	T	0.193	0.30926	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	7.09	0.00460	T	-1.52	0.38924	N	0.175	0.19459	-0.9670	0.37814	T	0.001	0.00222	T	9	0.0036373734	0.00066	T	.	.	.	0.015	0.02232	.	.	0.104622674875	0.10061	0.10683828809185875	0.10613	0.0456341534263	0.04953	0.264221608639	0.05404	T	.	.	.	-0.660261	0.00063	T	-0.715646	0.05009	T	0.00258418771117385	0.00027	T	0.540746	0.18332	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.02960	B	.;.;.;.;.	.;.;.;.;.	-0.697642	0.01326	0.073	0.50950757218013176	0.04475	0.00200	0.01150	N	AEFDBI	0.039096	0.05631	N	-2.22959982801494	0.00066	0.002815392	-2.30280245182774	0.00065	0.002872331	0.999971029731205	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.33	-4.66	0.03090	-1.340000	0.02756	.	.	-2.803000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6203:0.0:0.2089:0.1708	4.700	0.12206	994	0.00715	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000562	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.05	313.43	35	chr19	54277919	.	G	A	313.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=355;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.29;ReadPosRankSum=-0.166;SOR=0.615	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1079	9	0	1	0
chr19	54422281	54422281	C	T	exonic	TTYH1	.	nonsynonymous SNV	TTYH1:NM_001005367:exon4:c.C509T:p.A170V,TTYH1:NM_001201461:exon4:c.C509T:p.A170V,TTYH1:NM_020659:exon4:c.C509T:p.A170V	.	.	.	.	.	.	.	.	.	.	.	4090302	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00613847517154	.	0.000399361	0.0002	0	0	0	0	0	0	0.0006	5.82e-05	9	154602	rs553843392	3.18e-05	3.283e-05	9.781e-06	5.434e-05	0.0005	2.425e-05	2.164e-05	0.0004	0.0003	0	0	0	2.635e-05	0	0	9.187e-07	3.409e-05	0.0005	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0004	2.18e-06	8.2e-07	7.282e-05	3.026e-05	0	0	0	0	0	0	0	0	0	0.0004	0.325	0.13699	T	0.82	0.17064	T	0.893	0.77913	P	0.303	0.80445	B	0.000405	0.44736	D	0.147775	0.975241	0.40334	D	1.56	0.39490	L	2.77	0.11407	T	-1.35	0.34795	N	0.337	0.40364	-1.1233	0.02133	T	0.045	0.19194	T	10	0.06457007	0.08582	T	0.006138	0.16082	T	0.083	0.24192	.	.	0.0675242888579	0.06100	0.2429836235133583	0.24212	1.09937565494	0.77680	0.654090762138	0.60568	T	0.178974	0.52981	T	-0.36091	0.04079	T	-0.426198	0.30368	T	0.224110782146454	0.21667	T	0.850515	0.53399	D	0.08514667	0.19738	0.07747801	0.17261	0.08514667	0.19737	0.07747801	0.17261	-6.834	0.53358	T	.	.	0.101	0.32517	B	.;.;.;.	.;.;.;.	3.654389	0.51883	23.2	0.99888544740667817	0.96281	0.49273	0.28396	N	AEFDBHCI	0.306125	0.41336	N	0.171095858414237	0.49815	3.177785	0.2194880180494	0.50928	3.280026	0.999999051840413	0.74766	0.741868	0.97996	0	0.547309	0.14657	0	0.774882	0.98623	0	0.586402	0.36253	0	.	.	5.4	5.4	0.77957	1.872000	0.39185	.	.	0.599000	0.40250	0.941000	0.32681	1.000000	0.68203	0.428000	0.27405	0.0:0.9112:0.0:0.0888	10.495	0.43961	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1350.43	34	chr19	54422281	.	C	T	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.87;DP=420;ExcessHet=0;FS=0.788;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=-0.307;SOR=0.841	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,108,1274	9	0	1	0
chr19	54456182	54456182	C	T	exonic	LENG8	.	nonsynonymous SNV	LENG8:NM_001375639:exon8:c.C1187T:p.S396F,LENG8:NM_001375638:exon9:c.C1241T:p.S414F,LENG8:NM_001375640:exon9:c.C1241T:p.S414F,LENG8:NM_001375641:exon9:c.C1241T:p.S414F,LENG8:NM_052925:exon9:c.C1241T:p.S414F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.16412894691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.66756	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	1.04	0.26193	L	1.22	0.37052	T	-2.49	0.54217	N	0.449	0.54496	-0.7376	0.58576	T	0.200	0.55612	T	10	0.32863194	0.50129	T	0.164129	0.84331	D	0.131	0.35738	0.289	0.24921	0.102598925029	0.09809	0.7063576431843996	0.70577	1.03705223134	0.75649	0.647749304771	0.59666	T	.	.	.	-0.0449542	0.45210	T	-0.30235	0.44477	T	0.96903270483017	0.68449	D	0.942806	0.78426	D	0.53893065	0.69337	0.49298054	0.70673	0.53893065	0.69338	0.49298054	0.70673	-8.25	0.62761	D	.	.	0.715	0.73595	P	.;.;.;.	.;.;.;.	5.063688	0.84412	28.3	0.99851029367331168	0.93013	0.95890	0.66595	D	AEFDBCI	0.637347	0.61617	D	0.662083468808827	0.77153	6.620172	0.636299110933498	0.77595	6.709521	0.999999999999999	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.77	4.77	0.60425	4.948000	0.63290	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	15.670	0.77022	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4515.12	39	chr19	54456182	.	C	T	4515.12	.	AC=2;AF=0.1;AN=20;DP=475;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.51;SOR=0.866	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1322	9	1	0	0
chr19	54633081	54633081	G	A	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.G1024A:p.V342M,LILRB1:NM_001081638:exon7:c.G1024A:p.V342M,LILRB1:NM_001081639:exon7:c.G1024A:p.V342M,LILRB1:NM_001278398:exon7:c.G1024A:p.V342M,LILRB1:NM_001278399:exon7:c.G1024A:p.V342M,LILRB1:NM_006669:exon8:c.G1024A:p.V342M	.	0	1507	15	0	0	15	0.00495213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00102281044022	.	.	1.648e-05	0	0	0.0001	0	0	0	6.056e-05	1.29e-05	2	154602	rs747657206	1.71e-05	2.052e-05	1.906e-05	1.513e-05	5.974e-05	1.174e-05	9.92e-06	1.583e-05	9.3e-06	5.974e-05	0	0	2.519e-05	0	0	1.349e-05	4.967e-05	4.637e-05	1.97e-05	1.97e-05	2.568e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0.0002	0	0	0	0	0	0.04	0.42199	D	0.034	0.53072	D	1.0	0.90584	D	0.982	0.75477	D	0.786297	0.06684	N	1.155720	0.999532	0.21028	N	.	.	.	5.16	0.01191	T	-2.18	0.50502	N	0.278	0.34336	-1.0074	0.27727	T	0.016	0.06616	T	10	0.45277146	0.58803	T	0.001023	0.01120	T	0.131	0.35738	0.775	0.90080	0.685802083804	0.68311	0.0738663278184288	0.07323	0.159280941883	0.17976	0.360618680716	0.19476	T	0.060983	0.31532	T	-0.256387	0.13327	T	-0.43693	0.29152	T	0.491022676229477	0.32301	T	0.884312	0.62289	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.50600	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.345404	0.30063	18.32	0.99692323807098115	0.80044	0.03860	0.09219	N	AEFDBHCI	0.107775	0.21461	N	-0.187593301730475	0.33651	1.911516	-0.456010667312151	0.23379	1.27461	0.970439761532573	0.29207	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	1.16	0.19936	0.616000	0.24038	.	.	0.522000	0.23927	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.1912:0.0:0.8088:0.0	4.948	0.13349	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	377.43	243	chr19	54633081	.	G	A	377.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.76;DP=2474;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.34;MQRankSum=-7.715;QD=1.07;ReadPosRankSum=-1.114;SOR=0.689	GT:AD:DP:GQ:PL	0/0:262,0:262:99:0,120,1800	9	0	1	0
chr19	54729493	54729493	G	A	exonic	KIR3DL3	.	nonsynonymous SNV	KIR3DL3:NM_153443:exon5:c.G656A:p.G219D	.	422	1073	25	2	0	29	0.0133333	0.0157	0.208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00113306265672	.	.	.	.	.	.	.	.	.	.	0.0002199	34	154602	rs764066889	0.0017	0.0017	0.0017	0.0018	0.0218	0.0017	0.0016	0.0187	0.0175	0.0009	0.0021	0.0134	0	0	0.0218	0.0015	0.0028	0.0007	0.0016	0.0016	0.0016	0.0016	0.0027	0.0015	0.0014	0.0020	0.0018	0.0005	0	0.0027	0.0136	0	0	0.0312	0.0016	0.0070	0.0004	0.004	0.65419	D	0.001	0.83351	D	.	.	.	.	.	.	0.189329	0.16889	U	0.338725	0.999997	0.08975	N	.	.	.	5.22	0.01150	T	-5.43	0.85323	D	0.221	0.24758	-1.0618	0.11312	T	0.014	0.05705	T	9	0.09719387	0.17486	T	0.001133	0.01385	T	0.064	0.18567	0.737	0.86978	0.501484525772	0.49784	0.191655246118269	0.19083	4.01563215202	0.99884	0.487657159567	0.37114	T	.	.	.	-0.144822	0.29125	T	-0.445803	0.28160	T	0.895166993141174	0.54667	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.63028	A	.	.	2.524135	0.32625	19.10	0.99519703192959086	0.69161	0.03114	0.08053	N	AEFBI	0.050332	0.08785	N	-0.171640536624951	0.34319	1.95742	-0.493388739204565	0.22335	1.212629	4.23643939921456E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.37	1.37	0.21200	1.483000	0.35105	.	.	0.418000	0.20770	0.020000	0.19661	0.000000	0.08366	0.010000	0.09038	0.0:0.0:1.0:0.0	6.108	0.19305	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5199.14	302	chr19	54729493	.	G	A	5199.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.189;DP=2321;ExcessHet=0.2348;FS=1.112;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.98;MQRankSum=1.15;QD=11.79;ReadPosRankSum=0.36;SOR=0.606	GT:AD:DP:GQ:PL	0/0:273,0:273:99:0,120,1800	8	0	2	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	5010.71	35	chr19	54739533	.	C	A	5010.71	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.5;DP=3120;ExcessHet=4.5998;FS=1.537;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=55.29;MQRankSum=0.189;QD=2;ReadPosRankSum=1.51;SOR=0.525	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1215	3	0	6	1
chr19	54752248	54752248	A	G	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon7:c.A853G:p.N285D	.	472	988	53	9	0	71	0.0346849	.	.	.	2344988	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	0.000468388808781	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796591477	3.719e-06	8.145e-05	2.959e-06	4.488e-06	3.319e-05	1.09e-06	7.9e-07	4.37e-06	1.64e-06	3.319e-05	0	0	0	0	0	1.955e-06	0	2.636e-05	0	2.062e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.681	0.04417	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.885	0.01428	N	7.23	0.00430	T	1.41	0.00825	N	0.067	0.03956	-0.9794	0.35139	T	0.000	0.00152	T	9	0.046813875	0.03919	T	4.68E-4	0.00124	T	0.023	0.04649	0.254	0.19378	0.141422826196	0.13715	0.021484480057930886	0.02101	0.102646631919	0.11614	.	.	.	0.00138	0.00849	T	-0.424676	0.01598	T	-0.847794	0.00988	T	0.0696372147959041	0.08599	T	.	.	.	0.038748864	0.05221	0.03373727	0.02318	0.038748864	0.05221	0.03373727	0.02318	0.058	0.00329	T	.	.	0.059	0.00834	B	.	.	-0.515056	0.01820	0.143	0.70665495962579383	0.09370	0.00004	0.00092	N	AEFI	0.012143	0.00125	N	-1.67441242710064	0.00936	0.04055573	-1.68607278265976	0.01200	0.0540247	1.80848887901061E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.102000	0.10926	.	.	-0.344000	0.05652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2968:0.0:0.7032:0.0	3.427	0.06984	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05556	125.05	36	chr19	54752248	.	A	G	125.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3;DP=423;ExcessHet=0;FS=10.296;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=40.02;MQRankSum=-1.692;QD=7.82;ReadPosRankSum=-3.075;SOR=3.604	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	8	0	1	1
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	13352.9	36	chr19	54752378	.	A	T	13352.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.661;DP=2061;ExcessHet=0.0952;FS=1.132;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=54.42;MQRankSum=-18.14;QD=9.48;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	5	2	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	15224.9	36	chr19	54752434	.	G	C	15224.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.173;DP=2440;ExcessHet=0.0952;FS=14.799;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.51;MQRankSum=-21.06;QD=8.6;ReadPosRankSum=0.272;SOR=1.201	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1222	5	2	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	20676.9	36	chr19	54752445	.	C	T	20676.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.537;DP=2468;ExcessHet=0.0952;FS=18.645;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.72;MQRankSum=-21.3;QD=11.38;ReadPosRankSum=-0.49;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1222:.	5	2	3	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	11914.1	36	chr19	54752485	.	T	C	11914.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.66;DP=971;ExcessHet=0;FS=49.012;InbreedingCoeff=0.7333;MLEAC=5;MLEAF=0.25;MQ=50.72;MQRankSum=-17.83;QD=19.86;ReadPosRankSum=-4.048;SOR=2.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1222:.	7	2	1	0
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K	.	471	887	74	90	0	254	0.125247	.	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6625.53	36	chr19	54752511	.	G	A	6625.53	.	AC=4;AF=0.2;AN=20;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=37.57;QD=24.49;SOR=5.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1222:.	8	2	0	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6634.15	40	chr19	54760643	.	A	G	6634.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.84;DP=2035;ExcessHet=2.8389;FS=3.768;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=52.78;MQRankSum=-8.43;QD=3.78;ReadPosRankSum=-0.638;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	5	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	7734.15	40	chr19	54760651	.	G	C	7734.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.862;DP=2076;ExcessHet=2.8389;FS=1.571;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.18;MQRankSum=-8.828;QD=4.28;ReadPosRankSum=0.57;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	5	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	5155.45	40	chr19	54760659	.	G	A	5155.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.195;DP=2068;ExcessHet=0.7463;FS=1.6;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=53.42;MQRankSum=-9.151;QD=4.06;ReadPosRankSum=1.15;SOR=0.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	7	0	3	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9106.15	40	chr19	54760665	.	T	C	9106.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.066;DP=2055;ExcessHet=2.8389;FS=1.509;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.84;MQRankSum=-9.565;QD=5.11;ReadPosRankSum=1.84;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	5	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9167.15	40	chr19	54760676	.	T	A	9167.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.168;DP=2031;ExcessHet=2.8389;FS=1.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.64;MQRankSum=-10.59;QD=5.2;ReadPosRankSum=3.64;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	5	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9455.15	40	chr19	54760692	.	A	G	9455.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.915;DP=1868;ExcessHet=2.8389;FS=2.358;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.24;MQRankSum=-11.98;QD=5.68;ReadPosRankSum=4.04;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	5	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	9560.15	40	chr19	54760695	.	T	C	9560.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.898;DP=1846;ExcessHet=2.8389;FS=3.299;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.33;MQRankSum=-12.2;QD=5.86;ReadPosRankSum=3.72;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	5	0	5	0
chr19	54766500	54766500	C	G	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon6:c.C739G:p.L247V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866597056	1.797e-05	1.813e-05	2.005e-05	1.587e-05	0.0022	1.234e-05	1.043e-05	0.0012	0.0010	0	0	0	0	0	0.0022	8.536e-06	3.475e-05	2.41e-05	6.88e-06	6.707e-06	0	1.414e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	6043.13	34	chr19	54766500	.	C	G	6043.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.271;DP=907;ExcessHet=0.2348;FS=1.753;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=0.985;QD=12.67;ReadPosRankSum=-0.347;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	9	0	1	0
chr19	54766501	54766501	T	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon6:c.740delT:p.L247fs	.	419	1086	13	4	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs543833510	0.0008	0.0008	0.0007	0.0009	0.0175	0.0008	0.0008	0.0147	0.0136	0.0006	0.0009	0.0131	0	0	0.0175	0.0005	0.0018	0.0007	0.0010	0.0010	0.0009	0.0012	0.0021	0.0009	0.0009	0.0015	0.0013	0.0002	0	0.0021	0.0136	0	0	0.0210	0.0009	0.0030	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6043.13	34	chr19	54766500	.	CT	C	6043.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.271;DP=907;ExcessHet=0.2348;FS=1.753;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=0.985;QD=12.67;ReadPosRankSum=-0.347;SOR=0.553	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,989	9	0	1	0
chr19	54767313	54767313	G	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G992C:p.R331T	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020182	1.906e-05	2.713e-05	2.388e-05	1.419e-05	4.618e-05	1.305e-05	1.119e-05	1.508e-05	1.267e-05	0	4.618e-05	0	0	1.907e-05	0	2.23e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	357.43	39	chr19	54767313	.	G	C	357.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.648;DP=1794;ExcessHet=0;FS=3.495;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.84;MQRankSum=-18;QD=1.1;ReadPosRankSum=-1.492;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr19	54767314	54767314	A	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.A993C:p.R331S	.	437	1046	27	12	0	51	0.0237984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs4020183	9.31e-05	0.0054	7.637e-05	0.0001	0.0003	7.988e-05	7.514e-05	0.0002	0.0001	0.0003	0.0003	0.0002	0.0001	0.0001	0.0002	7.38e-05	5.179e-05	0.0001	0.0002	0.0045	0.0002	0.0003	0.0005	0.0002	0.0002	0.0001	9.824e-05	0.0002	0	0.0003	0	0.0002	0	0.0039	0.0002	0.0016	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	438.43	39	chr19	54767314	.	A	C	438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.711;DP=1796;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.78;MQRankSum=-18.08;QD=1.33;ReadPosRankSum=-1.309;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr19	54767315	54767315	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G994A:p.V332M	.	436	1047	27	12	0	51	0.0237762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1339510286	2.758e-05	0.0016	1.97e-05	3.554e-05	0.0001	2.065e-05	1.813e-05	4.488e-05	2.953e-05	6.119e-05	0.0001	8.191e-05	5.081e-05	1.91e-05	0	1.767e-05	3.428e-05	7.226e-05	0.0001	0.0020	6.973e-05	0.0002	0.0005	7.182e-05	5.784e-05	0.0001	6.24e-05	2.598e-05	0	0.0003	0	0.0002	0	0	0.0001	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	432.43	39	chr19	54767315	.	G	A	432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.422;DP=1794;ExcessHet=0;FS=3.37;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.77;MQRankSum=-18.14;QD=1.31;ReadPosRankSum=-1.137;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	9	0	1	0
chr19	54767322	54767322	C	T	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.C1001T:p.T334M	.	436	1034	40	12	0	64	0.0300188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1274559595	3.256e-05	0.0020	3.239e-05	3.273e-05	0.0002	2.496e-05	2.232e-05	7.519e-05	5.313e-05	0.0001	0.0002	8.218e-05	0.0001	1.911e-05	0	1.768e-05	3.432e-05	8.472e-05	0.0001	0.0028	8.339e-05	0.0002	0.0004	9.419e-05	7.868e-05	0.0001	9.679e-05	2.591e-05	0	0.0004	0	0.0002	0	0	0.0002	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	614.52	39	chr19	54767322	.	C	T	614.52	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=2009;ExcessHet=0.2348;FS=2.123;InbreedingCoeff=-0.1055;MLEAC=2;MLEAF=0.1;MQ=58.15;MQRankSum=-17.88;QD=0.75;ReadPosRankSum=-0.902;SOR=1.03	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	0	2	0
chr19	54767339	54767339	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.G1018A:p.E340K	.	437	984	91	10	0	111	0.0533911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1372790026	1.835e-05	2.225e-05	2.247e-05	1.418e-05	2.535e-05	1.277e-05	1.085e-05	1.422e-05	1.188e-05	0	0	0	2.535e-05	1.906e-05	0	2.136e-05	1.709e-05	0	6.928e-06	6.727e-06	1.348e-05	0	1.538e-05	0	0	.	.	0	0	0	0	0	0	0	1.538e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	699.14	39	chr19	54767339	.	G	A	699.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.396;DP=1980;ExcessHet=0.2348;FS=2.063;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.12;MQRankSum=-17.15;QD=0.88;ReadPosRankSum=1.59;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	0	2	0
chr19	54767342	54767342	T	C	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	KIR2DL1:NM_014218:exon8:c.T1021C:p.S341P	.	439	981	92	10	0	112	0.0540019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213695475	0.0003	0.0051	0.0002	0.0003	0.0011	0.0002	0.0002	0.0009	0.0008	0.0004	0.0011	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0005	0.0067	0.0006	0.0004	0.0011	0.0004	0.0004	0.0009	0.0008	0.0011	0.0012	0.0004	0.0003	0	0	0.0037	0.0002	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	696.14	39	chr19	54767342	.	T	C	696.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.281;DP=1973;ExcessHet=0.2348;FS=2.075;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.1;MQRankSum=-16.91;QD=0.87;ReadPosRankSum=2.38;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	0	2	0
chr19	54767349	54767349	C	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon8:c.1028delC:p.S343fs	.	439	964	109	10	0	129	0.0627127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.062e-07	3.477e-06	1.406e-06	0	2.535e-05	0	0	.	.	0	0	0	2.535e-05	0	0	0	0	0	0	6.726e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	689.1	39	chr19	54767348	.	TC	T	689.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.763;DP=1972;ExcessHet=0.2348;FS=0.992;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.06;MQRankSum=-17.02;QD=0.86;ReadPosRankSum=3.21;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	0	2	0
chr19	54767352	54767354	AAG	-	exonic	KIR2DL1;LOC112267881	.	nonframeshift deletion	KIR2DL1:NM_014218:exon8:c.1031_1033del:p.344_345del	.	437	959	116	10	0	136	0.0662123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.118e-06	3.477e-06	2.811e-06	1.419e-06	2.535e-05	5.6e-07	1.6e-07	.	.	0	0	0	2.535e-05	0	0	0	1.709e-05	1.198e-05	0	6.715e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	775.1	39	chr19	54767351	.	AAAG	A	775.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.786;DP=1983;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.04;MQRankSum=-16.03;QD=0.97;ReadPosRankSum=3.42;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	0	2	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	35164.4	39	chr19	54767353	.	A	*	35164.4	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.93;DP=2347;ExcessHet=0.0072;FS=0;InbreedingCoeff=0.5833;MLEAC=2;MLEAF=0.1;MQ=58.93;MQRankSum=-0.302;QD=17.01;ReadPosRankSum=-0.063;SOR=0.734	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1485	8	0	2	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I,KIR2DL1:NM_014218:exon1:c.G16A:p.V6I	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1066.43	35	chr19	54769866	.	G	A	1066.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.3;DP=1275;ExcessHet=0;FS=5.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.92;MQRankSum=-8.711;QD=4.35;ReadPosRankSum=-3.583;SOR=1.133	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1225	9	0	1	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	4973.14	37	chr19	54773464	.	G	C	4973.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.28;DP=3684;ExcessHet=0.2348;FS=9.291;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.36;MQRankSum=-16.31;QD=3.58;ReadPosRankSum=-0.647;SOR=1.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1223:.	8	0	2	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	8236.14	37	chr19	54773510	.	C	G	8236.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.459;DP=4037;ExcessHet=0.2348;FS=6.633;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.16;MQRankSum=-21.98;QD=5.07;ReadPosRankSum=2.62;SOR=1.172	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1223	8	0	2	0
chr19	54773566	54773566	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G304A:p.G102S,KIR2DL1:NM_014218:exon3:c.G304A:p.G102S,KIR2DS1:NM_014512:exon3:c.G304A:p.G102S,KIR2DS5:NM_014513:exon3:c.G304A:p.G102S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.000906809707648	.	.	6.784e-05	0	0	0	0.0005	7.741e-05	0	0	5.17e-05	8	154602	rs753437903	0.0002	0.0005	0.0001	0.0003	0.0018	0.0002	0.0002	0.0015	0.0015	0	6.814e-05	7.882e-05	2.536e-05	0.0003	0	8e-05	0.0001	0.0018	0.0001	0.0003	7.883e-05	0.0002	0.0017	7.248e-05	5.975e-05	0.0008	0.0006	0	0	0.0001	0	0	9.643e-05	0	7.549e-05	0.0005	0.0017	0.027	0.47320	D	0.089	0.40426	T	0.971	0.57185	D	0.918	0.65394	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-5.14	0.83625	D	0.191	0.22228	-0.9410	0.42458	T	0.009	0.03140	T	9	0.103799045	0.19101	T	9.07E-4	0.00866	T	0.061	0.17616	0.634	0.77032	0.357724736475	0.35387	0.10501949248615178	0.10431	0.597683246291	0.54955	0.410481452942	0.26524	T	0.030452	0.21583	T	-0.29606	0.09037	T	-0.552987	0.17040	T	0.130864865621135	0.15461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.31882	B	.;.	.;.	0.990606	0.13686	10.22	0.98974812337137963	0.49600	0.00301	0.01603	N	AEFBI	0.039299	0.05688	N	-0.465999152572575	0.23200	1.244239	-0.718764225425959	0.16494	0.8727873	2.64208282316089E-5	0.03498	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	1.24	0.20416	-0.634000	0.05575	.	.	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.895	0.18180	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000532	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3230.43	37	chr19	54773566	.	G	A	3230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.397;DP=3766;ExcessHet=0;FS=8.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.41;MQRankSum=-24.73;QD=2.73;ReadPosRankSum=-0.246;SOR=1.459	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1223	9	0	1	0
chr19	54775258	54775258	A	T	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A464T:p.Y155F,KIR2DL1:NM_014218:exon4:c.A464T:p.Y155F,KIR2DS1:NM_014512:exon4:c.A464T:p.Y155F,KIR2DS5:NM_014513:exon4:c.A464T:p.Y155F	.	413	1094	15	0	0	15	0.0068089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000485302517296	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403622068	0	8.233e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292	0.14996	T	1.0	0.01155	T	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	1.24	0.01037	N	0.071	0.06720	-0.9729	0.36583	T	0.017	0.06759	T	9	0.03911847	0.02379	T	4.85E-4	0.00133	T	0.012	0.01476	0.482	0.56302	0.112648838833	0.10856	0.020301396716153615	0.01983	0.920550017077	0.71431	0.410283654928	0.26495	T	0.001332	0.00808	T	-0.28797	0.09841	T	-0.651426	0.08854	T	0.0829859076827499	0.10364	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.14706	B	.;.	.;.	-0.303199	0.02603	0.323	0.33138870032821505	0.01958	0.00038	0.00324	N	AEFBI	0.017241	0.00439	N	-1.85737701345998	0.00419	0.01803751	-1.91465860294619	0.00458	0.02026758	5.1668644097163E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.472000	0.06702	.	.	-0.596000	0.04633	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3016:0.0:0.296:0.4023	1.999	0.03252	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	117.43	41	chr19	54775258	.	A	T	117.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=2546;ExcessHet=0;FS=20.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.64;MQRankSum=-20.91;QD=0.19;ReadPosRankSum=-0.592;SOR=3.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775282	54775282	A	-	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift deletion	LOC112267881:NM_001368251:exon4:c.488delA:p.E163fs,KIR2DL1:NM_014218:exon4:c.488delA:p.E163fs,KIR2DS1:NM_014512:exon4:c.488delA:p.E165Rfs*83,KIR2DS5:NM_014513:exon4:c.488delA:p.E163fs	.	419	1064	39	0	0	39	0.0179972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	279.1	41	chr19	54775281	.	GA	G	279.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.06;DP=2697;ExcessHet=0.2348;FS=12.427;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=58.58;MQRankSum=-13.8;QD=0.27;ReadPosRankSum=2.45;SOR=2.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	8	0	2	0
chr19	54775288	54775288	-	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon4:c.495dupG:p.E165fs,KIR2DL1:NM_014218:exon4:c.495dupG:p.E165fs,KIR2DS1:NM_014512:exon4:c.495dupG:p.A166Gfs*3,KIR2DS5:NM_014513:exon4:c.495dupG:p.E165fs	.	421	1059	42	0	0	42	0.0194444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	374.39	41	chr19	54775288	.	A	AG	374.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.269;DP=2651;ExcessHet=0;FS=14.785;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.44;MQRankSum=-14.24;QD=0.95;ReadPosRankSum=-2.018;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775300	54775300	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G506C:p.R169P,KIR2DL1:NM_014218:exon4:c.G506C:p.R169P,KIR2DS1:NM_014512:exon4:c.G506C:p.R169P,KIR2DS5:NM_014513:exon4:c.G506C:p.R169P	.	418	1060	44	0	0	44	0.0203327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000533817443437	.	.	9.182e-06	0	0	0	0	1.664e-05	0	0	6.5e-06	1	154602	rs377404034	2.07e-06	2.746e-06	2.746e-06	1.387e-06	2.723e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.723e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.50676	D	0.244	0.24123	T	0.008	0.14655	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.08	0.20255	T	-1.07	0.28703	N	0.109	0.09490	-1.0143	0.25561	T	0.022	0.09421	T	9	0.07263684	0.10869	T	5.34E-4	0.00185	T	0.034	0.08419	0.471	0.54537	0.255777322467	0.25185	0.12622002758448372	0.12548	1.08736435357	0.77331	0.269752025604	0.06108	T	0.009314	0.08490	T	-0.266831	0.12114	T	-0.62106	0.11103	T	0.0555891335135268	0.06456	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.43909	B	.;.	.;.	-0.151872	0.03345	0.590	0.78658180529256316	0.12396	0.00141	0.00861	N	AEFBI	0.041804	0.06403	N	-1.7447477935692	0.00695	0.02999557	-1.85797119578351	0.00591	0.02624484	1.18491246197326E-4	0.05269	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-2.190000	0.01332	.	.	-0.551000	0.04898	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2:0.3202:0.2042:0.2755	0.428	0.00435	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	302.43	41	chr19	54775300	.	G	C	302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.14;DP=2650;ExcessHet=0;FS=11.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.57;MQRankSum=-13.94;QD=0.78;ReadPosRankSum=0.385;SOR=1.615	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,105,1575	9	0	1	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R,KIR2DL1:NM_014218:exon4:c.A527G:p.K176R,KIR2DS1:NM_014512:exon4:c.A527G:p.K176R,KIR2DS5:NM_014513:exon4:c.A527G:p.K176R	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.042793	0.134409	0.005698	0.065789	0.111111	0.035714	0.053333	0.028455	0.05	326.58	41	chr19	54775321	.	A	G	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.02;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.25;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	326.58	41	chr19	54775321	.	A	*	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.02;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.25;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N,KIR2DL1:NM_014218:exon4:c.G528C:p.K176N,KIR2DS1:NM_014512:exon4:c.G528C:p.K176N,KIR2DS5:NM_014513:exon4:c.G528C:p.K176N	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038851	0.123656	0.004261	0.061404	0.111111	0.027273	0.050000	0.028455	0.05	326.58	41	chr19	54775322	.	G	C	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.639;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.42;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	326.58	41	chr19	54775322	.	G	*	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.639;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.42;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775326	54775326	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A532G:p.N178D,KIR2DL1:NM_014218:exon4:c.A532G:p.N178D,KIR2DS1:NM_014512:exon4:c.A532G:p.N178D,KIR2DS5:NM_014513:exon4:c.A532G:p.N178D	.	422	1064	36	0	0	36	0.0166359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000681058510757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215468336	6.977e-07	6.902e-07	0	1.402e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.444	0.13177	T	0.003	0.11197	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-2.9	0.61580	D	0.082	0.05799	-1.0121	0.26259	T	0.038	0.16376	T	9	0.12823194	0.24391	T	6.81E-4	0.00400	T	0.017	0.02790	0.601	0.73226	0.274366138417	0.27033	0.013315020428090234	0.01289	0.358671969282	0.37580	0.3478320539	0.17603	T	0.011679	0.10383	T	-0.256694	0.13289	T	-0.606499	0.12271	T	0.06326756290711	0.07672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.22644	B	.;.	.;.	0.069814	0.04784	1.399	0.87986939868078262	0.17631	0.00176	0.01036	N	AEFBI	0.030299	0.03023	N	-1.1105273196534	0.06455	0.2971903	-1.21311527541954	0.05699	0.2722578	2.47110482199817E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	0.929	0.18575	-1.728000	0.01958	.	.	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	4.103	0.09495	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	383.43	41	chr19	54775326	.	A	G	383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.432;DP=2961;ExcessHet=0;FS=4.924;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.65;MQRankSum=-12.07;QD=0.94;ReadPosRankSum=3.33;SOR=1.3	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775384	54775384	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G590C:p.R197T,KIR2DL1:NM_014218:exon4:c.G590C:p.R197T,KIR2DS1:NM_014512:exon4:c.G590C:p.R197T,KIR2DS5:NM_014513:exon4:c.G590C:p.R197T	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.000894665299984	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs371438548	0.0004	0.0008	0.0005	0.0004	0.0162	0.0004	0.0004	0.0150	0.0146	0.0162	0.0007	0	2.525e-05	0	0.0004	1.56e-05	0.0006	3.515e-05	0.0056	0.0078	0.0061	0.0051	0.0197	0.0053	0.0052	0.0185	0.0181	0.0197	0	0.0020	0	0	0	0	3.027e-05	0.0034	0	0.003	0.68238	D	0.008	0.69154	D	0.912	0.50421	P	0.292	0.40739	B	.	.	.	.	1	0.18612	N	.	.	.	2.31	0.16794	T	-4.38	0.77637	D	0.364	0.43126	-1.0551	0.13013	T	0.076	0.30397	T	9	0.08121961	0.13272	T	8.95E-4	0.00822	T	0.078	0.22779	0.728	0.86198	0.518697010188	0.51514	0.2688665995209388	0.26799	0.495754958489	0.48109	0.335689872503	0.15792	T	0.102698	0.41067	T	-0.153878	0.27706	T	-0.458811	0.26729	T	0.309333021477853	0.25387	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.38640	B	.;.	.;.	1.943256	0.24685	16.49	0.78307117121168801	0.12244	0.01494	0.04957	N	AEFBI	0.038374	0.05420	N	-0.37991661132699	0.26186	1.427204	-0.6587236976745	0.17997	0.9594499	3.25848057682871E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	1.1	0.19578	0.024000	0.13447	.	.	-0.340000	0.05703	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.593	0.16593	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	500.43	41	chr19	54775384	.	G	C	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=2892;ExcessHet=0;FS=5.147;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.05;MQRankSum=-11.61;QD=1.27;ReadPosRankSum=-1.026;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775392	54775392	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G598A:p.G200S,KIR2DL1:NM_014218:exon4:c.G598A:p.G200S,KIR2DS1:NM_014512:exon4:c.G598A:p.G200S,KIR2DS5:NM_014513:exon4:c.G598A:p.G200S	.	425	1048	49	0	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0070	0.00638978	0.0019	0.0216	0.0007	0	0	6.211e-05	0	0.0001	0.001727	267	154602	rs111277046	0.0006	0.0007	0.0007	0.0005	0.0207	0.0006	0.0006	0.0195	0.0189	0.0207	0.0008	0	0	0	0.0007	6.239e-05	0.0010	0.0002	0.0054	0.0056	0.0057	0.0051	0.0187	0.0051	0.0050	0.0176	0.0171	0.0187	0	0.0018	0	0	0	0	0.0001	0.0024	0.0004	0.001	0.78490	D	0.217	0.28860	T	0.999	0.77913	D	0.912	0.64797	D	.	.	.	.	1	0.08975	N	.	.	.	5.68	0.00759	T	-4.8	0.81187	D	0.152	0.17002	-0.8802	0.49746	T	0.002	0.00769	T	9	0.0055010617	0.00121	T	.	.	.	0.057	0.16321	.	.	0.310458034454	0.30648	0.19989379502801208	0.19906	1.04360297355	0.75885	0.300670742989	0.10500	T	0.045065	0.27007	T	-0.5975	0.00151	T	-0.61279	0.11760	T	0.0457227073311307	0.04733	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.48008	B	.;.	.;.	2.460036	0.31693	18.82	0.9847287461623232	0.41884	0.00273	0.01482	N	AEFBI	0.035321	0.04525	N	-0.747881428606765	0.14690	0.7339538	-0.97225822960036	0.10410	0.524182	1.6460515239701E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0552	0.13141	0.061000	0.14242	.	.	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2948:0.0:0.7052:0.0	3.457	0.07086	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001615	0.000000	0.001362	0.000000	0.000000	0.000000	0.003106	0.000000	0.05	443.43	41	chr19	54775392	.	G	A	443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=2891;ExcessHet=0;FS=4.976;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.97;MQRankSum=-11.61;QD=1.1;ReadPosRankSum=-1.987;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775398	54775398	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T604C:p.F202L,KIR2DL1:NM_014218:exon4:c.T604C:p.F202L,KIR2DS1:NM_014512:exon4:c.T604C:p.F202L,KIR2DS5:NM_014513:exon4:c.T604C:p.F202L	.	426	1039	57	0	0	57	0.0266979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00100448710875	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796519937	1.393e-06	3.111e-05	1.387e-06	1.4e-06	2.27e-05	2.3e-07	9e-08	.	.	0	2.27e-05	0	0	0	0	0	1.684e-05	0	6.752e-06	1.998e-05	1.317e-05	0	6.802e-05	0	0	.	.	0	0	6.802e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.373	0.17064	T	0.296	0.32457	B	0.03	0.21741	B	.	.	.	.	1	0.08975	N	.	.	.	5.85	0.00643	T	-3.67	0.70793	D	0.052	0.03392	-0.9051	0.47435	T	0.002	0.00707	T	9	0.1291396	0.24569	T	0.001004	0.01073	T	0.101	0.28911	0.61	0.74300	0.143124449307	0.13826	0.09827000553292622	0.09757	0.666767740789	0.59216	0.413420438766	0.26930	T	0.014801	0.12535	T	-0.18997	0.22262	T	-0.510655	0.21248	T	0.129981735902841	0.15380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.770	0.80517	P	.;.	.;.	0.851745	0.12237	8.783	0.86419233700547171	0.16523	0.00346	0.01789	N	AEFBI	0.031805	0.03473	N	-0.98016430785819	0.09027	0.4256011	-1.14646743373112	0.06831	0.3301903	1.66287446658842E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.17	0.12681	-0.343000	0.07838	.	.	0.472000	0.21952	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3925:0.0:0.0:0.6075	3.035	0.05751	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	383.43	41	chr19	54775398	.	T	C	383.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.686;DP=2877;ExcessHet=0;FS=8.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.88;MQRankSum=-11.13;QD=0.99;ReadPosRankSum=-1.904;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775425	54775425	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A631G:p.K211E,KIR2DL1:NM_014218:exon4:c.A631G:p.K211E,KIR2DS1:NM_014512:exon4:c.A631G:p.K211E,KIR2DS5:NM_014513:exon4:c.A631G:p.K211E	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.000592734597817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160831907	0	1.383e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.554	0.09298	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	5.87	0.00635	T	1.39	0.00857	N	0.07	0.05037	-0.8467	0.52195	T	0.002	0.00615	T	9	0.028063536	0.00943	T	5.93E-4	0.00260	T	0.059	0.16972	0.323	0.30387	0.16115917748	0.15686	0.029241745084215797	0.02873	2.21200435668	0.95776	0.31968459487	0.13373	T	4.12E-4	0.00135	T	-0.28523	0.10121	T	-0.647489	0.09131	T	0.0937598886220576	0.11657	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.11414	B	.;.	.;.	0.318454	0.06933	3.475	0.20862290473268763	0.00769	0.00019	0.00214	N	AEFBI	0.018778	0.00597	N	-2.32359019538145	0.00040	0.001725136	-2.43884286613337	0.00032	0.001406827	0.936798265882266	0.27269	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-2.21	0.06581	-0.210000	0.09349	.	.	-1.332000	0.01214	0.006000	0.17386	0.000000	0.08366	0.000000	0.00833	0.1649:0.2413:0.4377:0.1561	2.064	0.03380	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1393.14	41	chr19	54775425	.	A	G	1393.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.98;DP=2563;ExcessHet=0.2348;FS=6.62;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=55.24;MQRankSum=-9.538;QD=1.25;ReadPosRankSum=0.357;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	8	0	2	0
chr19	54775427	54775427	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G633C:p.K211N,KIR2DL1:NM_014218:exon4:c.G633C:p.K211N,KIR2DS1:NM_014512:exon4:c.G633C:p.K211N,KIR2DS5:NM_014513:exon4:c.G633C:p.K211N	.	424	1013	85	0	0	85	0.0402653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.001147116708	.	.	8.585e-06	0.0001	0	0	0	0	0	0	.	.	.	rs753170536	2.16e-05	0.0002	1.941e-05	2.38e-05	4.687e-05	1.548e-05	1.349e-05	1.594e-05	1.051e-05	3.01e-05	4.543e-05	0	0	1.904e-05	0	1.927e-05	3.37e-05	4.687e-05	3.365e-05	0.0001	5.26e-05	1.378e-05	9.802e-05	1.284e-05	8.15e-06	3.284e-05	1.938e-05	9.802e-05	0	0	0	0	0	0	1.511e-05	0	0	1.0	0.00964	T	0.573	0.08715	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.73	0.00718	T	1.38	0.00857	N	0.059	0.04426	-0.9366	0.43149	T	0.001	0.00378	T	9	0.023357421	0.00609	T	0.001147	0.01434	T	0.014	0.01968	0.35	0.34760	0.12205267543	0.11705	0.03264276369458457	0.03212	1.93871876743	0.93220	0.327257335186	0.14520	T	0.001399	0.00865	T	-0.474619	0.00796	T	-0.734262	0.04137	T	0.0274483388068723	0.01609	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.08754	B	.;.	.;.	0.327897	0.07020	3.580	0.21825878329223575	0.00850	0.00013	0.00170	N	AEFBI	0.013717	0.00192	N	-1.7759001691404	0.00606	0.0261499	-1.79421127190689	0.00778	0.03469607	1.85822177357133E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-6.75E-4	0.13359	-0.508000	0.06426	.	.	-1.225000	0.01333	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4246:0.3291:0.2463	2.428	0.04193	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1416.92	41	chr19	54775427	.	G	C	1416.92	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.51;DP=2553;ExcessHet=0;FS=6.673;InbreedingCoeff=-0.0777;MLEAC=1;MLEAF=0.05;MQ=55.27;MQRankSum=-9.394;QD=1.9;ReadPosRankSum=0.549;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54775428	54775428	T	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.T634C:p.S212P,KIR2DL1:NM_014218:exon4:c.T634C:p.S212P,KIR2DS1:NM_014512:exon4:c.T634C:p.S212P,KIR2DS5:NM_014513:exon4:c.T634C:p.S212P	.	426	994	102	0	0	102	0.0488038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00119730649929	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219946054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.04643	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.92	0.00621	T	4.32	0.00042	N	0.054	0.03841	-0.9543	0.40221	T	0.001	0.00318	T	9	0.048239112	0.04248	T	0.001197	0.01558	T	0.041	0.10877	0.381	0.39807	0.124217242631	0.12060	0.09862332896415132	0.09793	3.5385108973	0.99787	0.337671220303	0.16090	T	0.020959	0.16408	T	-0.296781	0.08966	T	-0.664082	0.07993	T	0.037209109262974	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00234	B	.;.	.;.	-0.377649	0.02298	0.242	0.20061086774987852	0.00705	0.00014	0.00181	N	AEFBI	0.017768	0.00489	N	-2.16889315936069	0.00090	0.003848594	-2.13850442775353	0.00153	0.006750525	1.85327816143771E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.0517	0.13155	0.152000	0.16120	.	.	-2.805000	0.00184	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7488:0.0:0.2512	5.420	0.15691	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1538.71	41	chr19	54775428	.	T	C	1538.71	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.61;DP=2576;ExcessHet=0;FS=5.175;InbreedingCoeff=-0.0734;MLEAC=1;MLEAF=0.05;MQ=55.66;MQRankSum=-12.71;QD=2.05;ReadPosRankSum=0.537;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,105,1575:.	9	0	1	0
chr19	54778621	54778621	-	A	exonic	KIR2DL1;KIR2DL2;LOC112267881	.	frameshift insertion	LOC112267881:NM_001368251:exon5:c.675dupA:p.S225fs,KIR2DL1:NM_014218:exon5:c.675dupA:p.S225fs,KIR2DL2:NM_014219:exon5:c.675dupA:p.N226Kfs*2	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.274e-06	0	0	0	0	0	0	7.529e-05	6.5e-06	1	154602	rs752426907	1.054e-05	1.097e-05	7.001e-06	1.411e-05	0.0006	6.33e-06	5.02e-06	0.0002	8.073e-05	0	0	0	0	0	0.0006	7.403e-06	1.701e-05	3.544e-05	6.818e-06	6.607e-06	1.33e-05	0	1.52e-05	0	0	.	.	0	0	0	0	0	0	0	1.52e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3955.08	39	chr19	54778621	.	C	CA	3955.08	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.138;DP=1689;ExcessHet=0;FS=11.941;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=56.1;MQRankSum=4.36;QD=30.66;ReadPosRankSum=1.61;SOR=0.035	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	1	0	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R,KIR2DL4:NM_001080772:exon3:c.A128G:p.Q43R	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	301.43	34	chr19	54804844	.	A	G	301.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.433;DP=534;ExcessHet=0;FS=5.994;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.44;MQRankSum=-12.86;QD=1.44;ReadPosRankSum=-2.091;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L,KIR2DL4:NM_001080772:exon3:c.G149T:p.R50L	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	331.43	34	chr19	54804865	.	G	T	331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.22;DP=553;ExcessHet=0;FS=7.462;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.39;MQRankSum=-13.61;QD=1.44;ReadPosRankSum=1.39;SOR=1.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R,KIR2DL4:NM_001080772:exon3:c.A155G:p.H52R	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	319.43	34	chr19	54804871	.	A	G	319.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.773;DP=557;ExcessHet=0;FS=9.101;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.42;MQRankSum=-13.73;QD=1.37;ReadPosRankSum=2.36;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S,KIR2DL4:NM_001080772:exon3:c.A158C:p.Y53S	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	23808.9	34	chr19	54804874	.	A	C	23808.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=1234;ExcessHet=0.0072;FS=0;InbreedingCoeff=0.5833;MLEAC=1;MLEAF=0.05;MQ=59.38;MQRankSum=0;QD=23.03;ReadPosRankSum=2.5;SOR=0.697	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	9	0	1	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L,KIR2DL4:NM_001080772:exon3:c.G164T:p.R55L	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	379.43	34	chr19	54804880	.	G	T	379.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.22;DP=1054;ExcessHet=0;FS=10.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.27;MQRankSum=-13.63;QD=1.66;ReadPosRankSum=3.21;SOR=1.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T,KIR2DL4:NM_001080772:exon3:c.A173C:p.N58T	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	496.43	34	chr19	54804889	.	A	C	496.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=1060;ExcessHet=0;FS=14.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.02;MQRankSum=-13.96;QD=2.11;ReadPosRankSum=2.78;SOR=2.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R,KIR2DL4:NM_001080772:exon3:c.C182G:p.T61R	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	579.43	34	chr19	54804898	.	C	G	579.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.66;DP=1077;ExcessHet=0;FS=17.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.95;MQRankSum=-14.59;QD=2.3;ReadPosRankSum=3.05;SOR=2.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E,KIR2DL4:NM_001080772:exon3:c.A193G:p.K65E	.	408	993	118	3	0	124	0.0587678	.	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	798.43	34	chr19	54804909	.	A	G	798.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.43;DP=1129;ExcessHet=0;FS=15.05;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.39;MQRankSum=-12.63;QD=2.97;ReadPosRankSum=1.46;SOR=2.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	9	0	1	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K,KIR2DL4:NM_001080772:exon3:c.G227A:p.R76K	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1798.14	34	chr19	54804943	.	G	A	1798.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.49;DP=1166;ExcessHet=0.2348;FS=13.715;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.97;MQRankSum=-13.26;QD=3.51;ReadPosRankSum=-1.927;SOR=1.989	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	8	0	2	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2374.45	34	chr19	54804956	.	C	G	2374.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.15;DP=1422;ExcessHet=0.7463;FS=12.453;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.29;MQRankSum=-16.12;QD=2.96;ReadPosRankSum=-2.862;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	7	0	3	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2530.45	34	chr19	54804960	.	T	A	2530.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.519;DP=1424;ExcessHet=0.7463;FS=17.072;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.32;MQRankSum=-15.73;QD=3.12;ReadPosRankSum=-2.895;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	7	0	3	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2780.45	34	chr19	54804968	.	T	G	2780.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1435;ExcessHet=0.7463;FS=16.177;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.31;MQRankSum=-15.32;QD=3.4;ReadPosRankSum=-1.498;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	7	0	3	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2699.45	34	chr19	54804969	.	A	G	2699.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.383;DP=1440;ExcessHet=0.7463;FS=19.076;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.38;MQRankSum=-15.34;QD=3.32;ReadPosRankSum=-1.654;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	7	0	3	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6712.57	34	chr19	54805015	.	T	C	6712.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.265;DP=1562;ExcessHet=1.5895;FS=8.159;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.78;QD=5.8;ReadPosRankSum=1.44;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	6	0	4	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6847.57	34	chr19	54805016	.	T	A	6847.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.245;DP=1562;ExcessHet=1.5895;FS=8.174;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.71;QD=5.92;ReadPosRankSum=1.08;SOR=1.162	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	6	0	4	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	7942.57	34	chr19	54805024	.	A	G	7942.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.474;DP=1576;ExcessHet=1.5895;FS=9.137;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.61;MQRankSum=-11.4;QD=6.79;ReadPosRankSum=1.21;SOR=1.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	6	0	4	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	8952.15	34	chr19	54805033	.	C	T	8952.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.399;DP=1643;ExcessHet=2.8389;FS=9.437;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.68;MQRankSum=-11.65;QD=6.18;ReadPosRankSum=0.528;SOR=1.101	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,102,1530:.	5	0	5	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7881.15	34	chr19	54805068	.	A	G	7881.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.173;DP=1562;ExcessHet=2.8389;FS=6.858;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.36;MQRankSum=-9.918;QD=5.83;ReadPosRankSum=0.563;SOR=0.761	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,102,1530	5	0	5	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	9915.15	99	chr19	54805957	.	A	T	9915.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.97;DP=1771;ExcessHet=2.8389;FS=3.192;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-16.36;QD=6.82;ReadPosRankSum=0.635;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1260:.	5	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	10422.2	99	chr19	54805960	.	A	G	10422.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.89;DP=1798;ExcessHet=2.8389;FS=2.226;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.88;MQRankSum=-16.33;QD=7.05;ReadPosRankSum=0.668;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1260:.	5	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14776.2	99	chr19	54805974	.	A	T	14776.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.69;DP=2009;ExcessHet=2.8389;FS=0.612;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-15.55;QD=8.75;ReadPosRankSum=0.322;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1260:.	5	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.25	17370.2	99	chr19	54805981	.	G	A	17370.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.4;DP=2150;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.11;MQRankSum=-15.01;QD=9.52;ReadPosRankSum=-0.322;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1260:.	5	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	22716.2	99	chr19	54806034	.	C	A	22716.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.229;DP=2912;ExcessHet=2.8389;FS=3.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.45;MQRankSum=-17.44;QD=9.52;ReadPosRankSum=4.68;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	5	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22899.2	99	chr19	54806035	.	A	G	22899.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.07;DP=2921;ExcessHet=2.8389;FS=4.623;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.42;MQRankSum=-17.54;QD=9.54;ReadPosRankSum=5.03;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	5	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	22299.2	99	chr19	54806051	.	C	G	22299.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.563;DP=2945;ExcessHet=2.8389;FS=4.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=-18.03;QD=9.15;ReadPosRankSum=5.19;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	5	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20457.1	38	chr19	54806072	.	GGA	G	20457.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.688;DP=2835;ExcessHet=2.8389;FS=5.882;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.84;MQRankSum=-17.65;QD=8.45;ReadPosRankSum=2.6;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	5	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20353.1	38	chr19	54806075	.	A	AGG	20353.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.636;DP=2810;ExcessHet=2.8389;FS=5.92;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.83;MQRankSum=-17.42;QD=8.49;ReadPosRankSum=2.06;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	5	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	19703.2	38	chr19	54806086	.	T	C	19703.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.793;DP=2800;ExcessHet=2.8389;FS=7.273;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.94;MQRankSum=-17.24;QD=8.27;ReadPosRankSum=-0.791;SOR=1.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	5	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	17023.2	38	chr19	54806109	.	A	G	17023.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.044;DP=2734;ExcessHet=2.8389;FS=10.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.35;MQRankSum=-16.97;QD=7.33;ReadPosRankSum=-4.427;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	5	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	9901.57	38	chr19	54806112	.	A	G	9901.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.987;DP=2693;ExcessHet=1.5895;FS=8.425;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.15;MQRankSum=-15.74;QD=5.16;ReadPosRankSum=-2.953;SOR=1.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	6	0	4	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2447.14	38	chr19	54806161	.	A	G	2447.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.72;DP=1561;ExcessHet=0.2348;FS=31.76;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.26;MQRankSum=-18.58;QD=3.39;ReadPosRankSum=3.91;SOR=3.185	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	8	0	2	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2025.14	38	chr19	54806170	.	G	C	2025.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.49;DP=1537;ExcessHet=0.2348;FS=20.559;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.48;MQRankSum=-18.32;QD=2.91;ReadPosRankSum=2.48;SOR=2.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	8	0	2	0
chr19	54806178	54806178	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G589A:p.G197S,KIR2DL4:NM_001080772:exon4:c.G589A:p.G197S	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00399361	0.0068	0.05	0	0	.	0	0	0	0.0003234	50	154602	rs562937136	0.0007	0.0007	0.0007	0.0006	0.0229	0.0007	0.0006	0.0216	0.0210	0.0229	0.0010	0	0	0	0.0023	5.847e-05	0.0014	0.0004	0.0061	0.0061	0.0064	0.0058	0.0214	0.0057	0.0056	0.0203	0.0198	0.0214	0	0.0013	0	0	0	0.0068	0.0001	0.0043	0.0009	0.028	0.46129	D	0.063	0.45110	T	0.981	0.60036	D	0.611	0.51118	P	0.093193	0.20236	U	0.246155	1	0.08975	N	1.84	0.48285	L	2.58	0.13434	T	-5.08	0.84457	D	0.261	0.29544	-1.0726	0.08851	T	0.044	0.18742	T	10	0.0045753717	0.00095	T	.	.	.	0.059	0.16972	.	.	0.328504224676	0.32467	0.06988589293301634	0.06926	2.68827321764	0.98538	.	.	.	.	.	.	-0.580043	0.00192	T	-0.582971	0.14280	T	0.0881467788318275	0.10995	T	.	.	.	.	.	.	.	.	.	.	.	-6.097	0.50340	T	.	.	0.213	0.55665	B	.;.;.;.;.;.	.;.;.;.;.;.	1.579481	0.20215	14.64	0.98519973530265537	0.42447	0.00237	0.01320	N	AEFDBI	0.040798	0.06117	N	-0.646128351039815	0.17573	0.9054126	-0.934422807103989	0.11285	0.573984	1.21157652715662E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.474	0.11504	-0.555000	0.06089	.	.	0.348000	0.19902	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3456:0.0:0.6544:0.0	3.151	0.06099	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1376.43	38	chr19	54806178	.	G	A	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.57;DP=1529;ExcessHet=0;FS=23.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.04;MQRankSum=-18.89;QD=3.81;ReadPosRankSum=0.699;SOR=1.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	9	0	1	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L,KIR2DL4:NM_001080772:exon4:c.T595C:p.F199L	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2346.14	38	chr19	54806184	.	T	C	2346.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.35;DP=1535;ExcessHet=0.2348;FS=16.985;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.32;MQRankSum=-18.45;QD=3.38;ReadPosRankSum=-1.215;SOR=2.272	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	8	0	2	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E,KIR2DL4:NM_001080772:exon4:c.G602A:p.G201E	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2384.14	38	chr19	54806191	.	G	A	2384.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.486;DP=1537;ExcessHet=0.2348;FS=14.988;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.32;MQRankSum=-18.53;QD=3.42;ReadPosRankSum=-2.326;SOR=2.119	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:267,0:267:99:.:.:0,120,1800:.	8	0	2	0
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L,KIR2DL4:NM_001080772:exon4:c.C641T:p.P214L	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	595.14	38	chr19	54806230	.	C	T	595.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.47;DP=977;ExcessHet=0.2348;FS=13.849;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.73;MQRankSum=-16.8;QD=0.98;ReadPosRankSum=-2.77;SOR=1.912	GT:AD:DP:GQ:PL	0/0:63,0:63:99:0,120,1800	8	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13059.2	37	chr19	54808838	.	C	T	13059.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.81;DP=2070;ExcessHet=2.8389;FS=3.037;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.16;MQRankSum=-17.43;QD=7.13;ReadPosRankSum=0.745;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1530:.	5	0	5	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15064.1	37	chr19	54808850	.	TGG	T	15064.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.12;DP=2228;ExcessHet=2.8389;FS=2.1;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.39;MQRankSum=-16.24;QD=7.59;ReadPosRankSum=-0.095;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1530:.	5	0	5	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15589.1	37	chr19	54808853	.	C	CAT	15589.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.82;DP=2244;ExcessHet=2.8389;FS=1.315;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.46;MQRankSum=-16.1;QD=7.83;ReadPosRankSum=-0.41;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1530:.	5	0	5	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.25	17966.2	37	chr19	54808875	.	T	C	17966.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=2329;ExcessHet=2.8389;FS=1.259;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.6;MQRankSum=-15.46;QD=8.7;ReadPosRankSum=-2.176;SOR=0.677	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	5	0	5	0
chr19	54818396	54818396	A	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001083539:exon3:c.A152G:p.Y51C,KIR3DL1:NM_001322168:exon3:c.A152G:p.Y51C,LOC112268355:NM_001368254:exon3:c.A152G:p.Y51C,KIR3DL1:NM_013289:exon3:c.A152G:p.Y51C	.	409	1037	58	1	17	77	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0084	0.00499201	0.0082	0.0014	0.0045	0	0.0020	0.0110	0.0037	0.0109	0.0073156	1131	154602	rs145262243	0.0076	0.0076	0.0075	0.0076	0.0103	0.0075	0.0074	0.0082	0.0076	0.0007	0.0039	0.0344	7.56e-05	0.0024	0.0103	0.0078	0.0082	0.0066	0.0051	0.0050	0.0055	0.0048	0.0072	0.0048	0.0047	0.0066	0.0064	0.0012	0.0077	0.0034	0.0362	0	0.0011	0.0034	0.0072	0.0044	0.0059	0.024	0.48186	D	0.033	0.53072	D	0.022	0.18677	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	2.69	0.12268	T	-2.31	0.51319	N	0.146	0.14763	-1.0581	0.12235	T	0.036	0.15334	T	9	0.007935494	0.00180	T	.	.	.	0.061	0.17616	.	.	0.119812018005	0.11559	0.18560298663992075	0.18478	0.528210940665	0.50417	.	.	.	0.002372	0.01768	T	-0.682385	0.00046	T	-0.742588	0.03782	T	0.0381217510769765	0.03354	T	.	.	.	0.19847932	0.41752	0.14993146	0.35380	0.19847932	0.41752	0.14993146	0.35379	-6.516	0.50410	T	.	.	0.183	0.39731	B	.;.	.;.	0.471660	0.08413	5.168	0.89335038371403175	0.18708	0.00128	0.00795	N	AEFDBI	0.048260	0.08217	N	-1.07536318344464	0.07100	0.3288053	-1.33713906919339	0.03960	0.1857968	2.52494180885675E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.25	-2.51	0.05996	-0.314000	0.08132	.	.	-2.965000	0.00148	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3118:0.4675:0.0:0.2207	2.032	0.03317	982	0.03397	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007269	0.010204	0.004190	0.003030	0.000000	0.000000	0.019231	0.000000	0.05	3951.43	257	chr19	54818396	.	A	G	3951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.841;DP=1560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=-1.876;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:175,0:175:99:.:.:0,120,1800:.	9	0	1	0
chr19	54825064	54825064	C	G	exonic	KIR3DL1;KIR3DS1;LOC112268355	.	nonsynonymous SNV	KIR3DS1:NM_001282171:exon4:c.C665G:p.P222R,KIR3DS1:NM_001282170:exon5:c.C701G:p.P234R,KIR3DS1:NM_001083539:exon6:c.C986G:p.P329R,KIR3DL1:NM_001322168:exon6:c.C986G:p.P329R,LOC112268355:NM_001368254:exon6:c.C986G:p.P329R,KIR3DL1:NM_013289:exon6:c.C986G:p.P329R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000538701120536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.448e-06	2.071e-06	1.446e-06	1.45e-06	1.923e-06	2.4e-07	9e-08	3.2e-07	1.2e-07	0	0	0	0	0	0	1.923e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.036	0.52060	D	0.967	0.56408	D	0.818	0.58969	P	.	.	.	.	1	0.08975	N	3.155	0.88459	M	6.83	0.00490	T	-4.61	0.81675	D	0.234	0.26354	-0.9398	0.42648	T	0.004	0.01192	T	9	0.15433282	0.29113	T	5.39E-4	0.00196	T	0.034	0.08419	0.443	0.49975	0.224531998449	0.22054	0.07559245813323216	0.07495	2.71460215636	0.98613	.	.	.	0.064285	0.32395	T	-0.256801	0.13278	T	-0.606654	0.12259	T	0.777831971645355	0.44916	D	.	.	.	0.15852536	0.35659	0.16635545	0.38436	0.15852536	0.35659	0.16635545	0.38436	-8.848	0.66713	D	.	.	0.124	0.29697	B	.;.	.;.	2.251726	0.28762	17.90	0.99173528652221188	0.54469	0.00757	0.03139	N	AEFDI	0.034423	0.04260	N	-0.442062859569343	0.24009	1.29345	-0.794657092075482	0.14626	0.7651832	5.44035575126597E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.35	-1.29	0.08805	-0.285000	0.08444	.	.	0.384000	0.20435	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.3226:0.4444:0.0:0.233	1.843	0.02962	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3271.12	33	chr19	54825064	.	C	G	3271.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.279;DP=440;ExcessHet=0;FS=15.935;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=40.86;MQRankSum=2.28;QD=25.16;ReadPosRankSum=-0.029;SOR=0.492	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1306	9	1	0	0
chr19	54829403	54829403	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.T1043C:p.V348A,KIR3DL1:NM_013289:exon7:c.T1043C:p.V348A	.	465	1015	27	15	0	57	0.0273119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000628392889641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.507e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	7.088e-06	4.001e-05	1.373e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.135	0.32296	T	0.832	0.06511	T	0.004	0.12183	B	0.007	0.12992	B	0.023237	0.01588	N	3.575530	1	0.08975	N	0.125	0.08623	N	7.44	0.00421	T	-0.82	0.22508	N	0.164	0.17278	-0.9472	0.41448	T	0.001	0.00255	T	10	0.09152645	0.16040	T	6.28E-4	0.00319	T	0.064	0.18567	0.554	0.67133	0.0297737177859	0.01360	0.08161495840610522	0.08096	0.271329387605	0.29656	.	.	.	6.92E-4	0.00312	T	-0.245446	0.14661	T	-0.590343	0.13636	T	0.123887033531142	0.14805	T	.	.	.	0.030742982	0.02791	0.031628843	0.01780	0.030742982	0.02790	0.031628843	0.01780	-4.925	0.37153	T	.	.	0.095	0.25000	B	.;.;.	.;.;.	-0.454121	0.02019	0.180	0.41419724317776613	0.02987	0.00085	0.00571	N	AEFBI	0.023178	0.01257	N	-1.321185949015	0.03433	0.1533551	-1.42447646540238	0.03009	0.1395471	2.30784262624693E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	-1.27	0.08863	-0.027000	0.12319	.	.	-2.024000	0.00433	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.4576:0.0:0.5424	3.398	0.06890	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829403	.	T	C	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	1	0	1
chr19	54829426	54829426	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.C1066T:p.L356F,KIR3DL1:NM_013289:exon7:c.C1066T:p.L356F	.	466	1013	21	22	0	65	0.0310856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000881710101063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357591195	2.204e-06	1.333e-05	1.461e-06	2.955e-06	3.075e-05	5.9e-07	1.6e-07	3.2e-07	1.2e-07	3.075e-05	0	0	0	0	0	1.918e-06	0	0	1.419e-05	6.004e-05	0	2.933e-05	3.142e-05	2.36e-06	8.8e-07	5.21e-06	1.95e-06	0	0	0	0	0	0	0	3.142e-05	0	0	0.676	0.15509	T	0.11	0.42261	T	0.083	0.24734	B	0.111	0.31539	B	0.889553	0.08697	U	0.917207	1	0.08975	N	1.91	0.51138	L	6.76	0.00513	T	-0.54	0.24244	N	0.166	0.24634	-0.9058	0.47355	T	0.003	0.00994	T	10	0.0681749	0.09605	T	8.82E-4	0.00800	T	0.030	0.07022	0.46	0.52753	0.0482279557977	0.04254	0.05777243657495314	0.05718	0.251727071068	0.27752	.	.	.	0.005257	0.04708	T	-0.276679	0.11022	T	-0.635207	0.10023	T	0.0421530902385712	0.04083	T	.	.	.	0.031986482	0.03139	0.033634726	0.02292	0.031986482	0.03138	0.033634726	0.02292	-5.291	0.39854	T	.	.	0.086	0.15921	B	.;.;.	.;.;.	0.063715	0.04739	1.367	0.67501303190261086	0.08373	0.00186	0.01083	N	AEFBI	0.030864	0.03186	N	-1.04433514916623	0.07700	0.3585571	-1.23934790095235	0.05291	0.2517261	1.77605386034773E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	-0.682	0.10769	-0.511000	0.06404	.	.	-0.952000	0.02027	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5698:0.4302:0.0	4.367	0.10665	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829426	.	C	T	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	1	0	1
chr19	54829444	54829444	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.C1084T:p.L362F,KIR3DL1:NM_013289:exon7:c.C1084T:p.L362F	.	469	1016	18	19	0	56	0.0268199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000467105551924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1379917357	6.623e-06	1.825e-05	7.317e-06	5.921e-06	.	3.12e-06	2.26e-06	.	.	0	0	0	0	0.0002	0	0	0	0	0	5.38e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.72154	D	0.332	0.18846	T	0.007	0.14184	B	0.003	0.08700	B	0.002088	0.00857	U	899.158000	1	0.08975	N	0	0.06538	N	7.05	0.00452	T	0.04	0.13611	N	0.101	0.08925	-0.9318	0.43874	T	0.001	0.00318	T	10	0.14012018	0.26636	T	4.67E-4	0.00124	T	0.025	0.05312	0.461	0.52916	0.0401082797425	0.02173	0.02443178439583704	0.02394	0.254399891782	0.28010	.	.	.	0.001306	0.00783	T	-0.291158	0.09520	T	-0.656005	0.08539	T	0.147834339200674	0.16930	T	.	.	.	0.04845032	0.08446	0.062126793	0.12107	0.04845032	0.08446	0.062126793	0.12107	-5.453	0.41426	T	.	.	0.083	0.09094	B	.;.;.	.;.;.	0.533017	0.09019	5.799	0.90015249230934702	0.19304	0.00132	0.00814	N	AEFBI	0.028434	0.02505	N	-1.23477188791507	0.04504	0.2034267	-1.33360428072536	0.04003	0.1879124	1.70711295274268E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	-0.443	0.11638	-0.028000	0.12299	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:0.6513:0.0:0.3487	3.121	0.06008	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829444	.	C	T	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	1	0	1
chr19	54829449	54829449	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon7:c.G1089C:p.W363C,KIR3DL1:NM_013289:exon7:c.G1089C:p.W363C	.	469	1016	17	20	0	57	0.0272858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.000494672355364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1435361878	6.636e-06	1.758e-05	7.332e-06	5.932e-06	.	3.12e-06	2.26e-06	.	.	0	0	0	0	0.0002	0	0	0	0	0	4.749e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.012	0.58626	D	0.033	0.54934	D	0.416	0.35222	B	0.325	0.41883	B	0.011943	0.01321	U	3.755810	1	0.08975	N	2.575	0.75298	M	7.13	0.00446	T	-7.6	0.97265	D	0.372	0.41459	-0.9456	0.41715	T	0.005	0.01725	T	10	0.7728967	0.77225	D	4.95E-4	0.00143	T	0.104	0.29647	0.755	0.88484	0.115124310173	0.11017	0.09110718098028447	0.09043	0.378968767957	0.39302	.	.	.	0.036431	0.24100	T	-0.151919	0.28011	T	-0.455998	0.27035	T	0.751542329788208	0.43371	D	.	.	.	0.23327339	0.46129	0.22795105	0.47821	0.23327339	0.46129	0.22795105	0.47820	-6.195	0.49829	T	.	.	0.259	0.51480	B	.;.;.	.;.;.	1.702392	0.21685	15.30	0.76359821396054217	0.11436	0.00692	0.02953	N	AEFBI	0.043777	0.06962	N	-0.378517656521147	0.26237	1.43033	-0.694004366493408	0.17109	0.9083015	2.38927755847897E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.743	0.743	0.17496	0.483000	0.22001	.	.	0.254000	0.18348	0.133000	0.23395	0.000000	0.08366	0.029000	0.12982	0.0:0.0:1.0:0.0	4.835	0.12825	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	31.41	137	chr19	54829449	.	G	C	31.41	.	AC=2;AF=0.111;AN=18;DP=715;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=44;QD=31.41;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1485:.	8	1	0	1
chr19	54830110	54830110	A	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.A1170T:p.E390D,KIR3DL1:NM_013289:exon9:c.A1170T:p.E390D	.	487	1018	4	13	0	30	0.0145208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00295037248364	.	0.000998403	7.89e-05	0.0002	0.0002	0	0	7.895e-05	0	0	0.0001921	5	26028	rs577254016	1.882e-05	0.0015	1.15e-05	2.624e-05	0.0001	1.309e-05	1.112e-05	4.711e-05	3.035e-05	3.065e-05	0.0001	0	2.641e-05	0	0	1.796e-05	0	0	8.649e-05	0.0010	6.973e-05	0.0001	0.0001	4.903e-05	3.833e-05	5.029e-05	3.246e-05	0.0001	0	0.0001	0	0	0.0001	0.0037	3.177e-05	0.0005	0	0.016	0.51853	D	0.452	0.18560	T	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.485	0.37223	L	7.16	0.00448	T	-1.23	0.31981	N	0.044	0.02861	-0.9655	0.38112	T	0.002	0.00497	T	8	0.018143237	0.00392	T	0.00295	0.06280	T	0.025	0.05312	0.321	0.30064	0.233785782151	0.22967	0.08289795060291379	0.08224	0.208071757028	0.23278	.	.	.	0.005634	0.05080	T	-0.276028	0.11093	T	-0.634272	0.10092	T	0.0382154940498127	0.03370	T	.	.	.	0.20277482	0.42333	0.12719326	0.30622	0.20277482	0.42333	0.12719326	0.30622	-6.204	0.49228	T	.	.	0.108	0.27583	B	.;.;.	.;.;.	0.477189	0.08466	5.226	0.92327634821417748	0.21724	0.01652	0.05304	N	AEFBI	0.030493	0.03080	N	-0.939294173757901	0.09934	0.472429	-1.08733637988935	0.07949	0.388757	2.17517074619218E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	0.719	0.17362	0.965000	0.28916	.	.	0.280000	0.18617	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	867.51	36	chr19	54830110	.	A	T	867.51	.	AC=4;AF=0.2;AN=20;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=0.9992;MLEAC=4;MLEAF=0.2;MQ=34.98;QD=34.46;SOR=6.091	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	4962.53	371	chr19	54830166	.	G	C	4962.53	.	AC=4;AF=0.2;AN=20;DP=1855;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.76;QD=30.62;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830177	.	C	T	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=27.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830178	.	G	C	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=22.61;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5187.53	371	chr19	54830217	.	T	C	5187.53	.	AC=4;AF=0.2;AN=20;DP=1860;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.25;QD=24.46;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	5051.53	371	chr19	54830219	.	T	A	5051.53	.	AC=4;AF=0.2;AN=20;DP=1857;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.22;QD=31.23;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	4961.53	371	chr19	54830226	.	C	T	4961.53	.	AC=4;AF=0.2;AN=20;DP=1855;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=43.38;QD=31.42;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4427.49	371	chr19	54830252	.	TC	T	4427.49	.	AC=4;AF=0.2;AN=20;DP=1844;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.19;QD=32.44;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4377.49	371	chr19	54830255	.	AAAG	A	4377.49	.	AC=4;AF=0.2;AN=20;DP=1842;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.17;QD=28.75;SOR=1.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1216:.	8	2	0	0
chr19	54837615	54837615	A	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A110G:p.H37R,KIR2DS4:NM_001281972:exon3:c.A110G:p.H37R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1143507	1.168e-05	0.0006	1.304e-05	1.029e-05	2.666e-05	6.91e-06	5.59e-06	5.62e-06	4.11e-06	0	0	0	2.666e-05	4.072e-05	0	1.047e-05	1.774e-05	1.349e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	178.36	35	chr19	54837615	.	A	G	178.36	.	AC=2;AF=0.1;AN=20;DP=596;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=36.01;QD=29.73;SOR=3.912	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1396	9	1	0	0
chr19	54837615	54837615	A	C	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A110C:p.H37P,KIR2DS4:NM_001281972:exon3:c.A110C:p.H37P	.	497	1014	4	7	0	18	0.00879765	.	.	.	3393472	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0005	0	0	0.0002	0	0.0002	0	0.0035	0.0004075	63	154602	rs1143507	0.0003	0.0078	0.0002	0.0004	0.0032	0.0003	0.0003	0.0029	0.0028	6.182e-05	9.708e-05	0.0002	0.0001	0.0001	0.0007	0.0001	0.0004	0.0032	0.0006	0.0074	0.0005	0.0006	0.0035	0.0005	0.0004	0.0020	0.0016	0.0009	0	0.0005	0.0007	0	0.0002	0	0.0003	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004334	0.005155	0.004132	0.004274	0.000000	0.000000	0.000000	0.012097	0.1	178.36	35	chr19	54837615	.	A	C	178.36	.	AC=2;AF=0.1;AN=20;DP=596;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=36.01;QD=29.73;SOR=3.912	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1396	9	1	0	0
chr19	54837707	54837707	A	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.A202G:p.N68D,KIR2DS4:NM_001281972:exon3:c.A202G:p.N68D	.	466	1018	7	24	7	62	0.0263032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.633e-05	0	0.0002	0	0	0	0	6.952e-05	0.0001229	19	154602	rs1130481	0.0010	0.0082	0.0007	0.0013	0.0051	0.0009	0.0009	0.0047	0.0045	0.0004	0.0020	0.0015	0.0013	0.0012	0.0004	0.0006	0.0008	0.0051	3.049e-05	0.0001	4.406e-05	1.584e-05	0.0003	1.012e-05	5.8e-06	0.0001	6.639e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012419	0.000000	0.011050	0.004274	0.000000	0.043860	0.015823	0.011905	0.1	319.49	35	chr19	54837707	.	A	G	319.49	.	AC=2;AF=0.1;AN=20;DP=597;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=1;MLEAF=0.05;MQ=36.53;QD=33.21;SOR=4.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,105,1396:.	9	1	0	0
chr19	54842911	54842911	C	T	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;LOC102725023	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon5:c.C686T:p.P229L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388095435	1.374e-05	0.0002	1.006e-05	1.747e-05	0.0001	8.79e-06	7.08e-06	6.123e-05	4.495e-05	0	2.384e-05	0	0	0	0	6.618e-06	3.508e-05	0.0001	2.13e-05	0.0003	1.376e-05	2.935e-05	0.0003	5.66e-06	2.57e-06	.	.	0	0	0	0	0.0002	0	0	1.573e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	58.43	255	chr19	54842911	.	C	T	58.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.967;DP=974;ExcessHet=0;FS=0;InbreedingCoeff=-0.0133;MLEAC=1;MLEAF=0.05;MQ=33.71;MQRankSum=0.967;QD=19.48;ReadPosRankSum=-0.967;SOR=1.179	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1225	9	0	1	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	10350.0	35	chr19	54847203	.	T	*	10350.0	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=3363;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=59.44;MQRankSum=-4.651;QD=3.7;ReadPosRankSum=-0.14;SOR=0.77	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1077	9	0	1	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13924.2	34	chr19	54855625	.	A	T	13924.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.782;DP=1986;ExcessHet=2.8389;FS=8.748;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.55;MQRankSum=-15.08;QD=7.77;ReadPosRankSum=1.52;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1260:.	5	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13459.2	34	chr19	54855628	.	A	G	13459.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.78;DP=1991;ExcessHet=2.8389;FS=8.887;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.62;MQRankSum=-15.1;QD=7.49;ReadPosRankSum=1.58;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1260:.	5	0	5	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10,KIR3DL2:NM_006737:exon5:c.704_705del:p.Q235Rfs*10	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5465.14	34	chr19	54855666	.	CAG	C	5465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.371;DP=1815;ExcessHet=0.2348;FS=18.008;InbreedingCoeff=-0.113;MLEAC=2;MLEAF=0.1;MQ=57.45;MQRankSum=-17.68;QD=6.46;ReadPosRankSum=-1.523;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1260:.	8	0	2	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5,KIR3DL2:NM_006737:exon5:c.706_707insCA:p.G237Qfs*5	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5477.14	34	chr19	54855669	.	G	GCA	5477.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.22;DP=1780;ExcessHet=0.2348;FS=18.008;InbreedingCoeff=-0.113;MLEAC=2;MLEAF=0.1;MQ=57.54;MQRankSum=-17.68;QD=6.5;ReadPosRankSum=-1.742;SOR=1.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1260:.	8	0	2	0
chr19	54855702	54855702	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.T739A:p.W247R,KIR3DL2:NM_006737:exon5:c.T739A:p.W247R	.	418	1096	7	0	1	8	0.00318327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.000513965063079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.844e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.23	0.25827	T	0.0	0.02946	B	0.002	0.06944	B	0.007305	0.01163	N	6.284920	1	0.08975	N	-0.905	0.01334	N	4.12	0.02891	T	2.77	0.00192	N	0.074	0.05287	-0.9554	0.40024	T	0.004	0.01159	T	10	0.0278669	0.00925	T	5.14E-4	0.00163	T	0.006	0.00375	0.383	0.40134	0.148003135375	0.14442	0.03313264070354783	0.03261	2.56269628182	0.97972	0.291219711304	0.09100	T	0.013561	0.11709	T	-0.45857	0.01003	T	-0.896481	0.00528	T	0.0652051243997332	0.07961	T	.	.	.	0.038792573	0.05237	0.03620834	0.03021	0.038792573	0.05237	0.03620834	0.03021	-1.24	0.01520	T	.	.	0.056	0.00444	B	.;.	.;.	-1.017771	0.00746	0.023	0.28703814929394555	0.01487	0.00064	0.00463	N	AEFBI	0.018163	0.00530	N	-2.08547964821295	0.00138	0.005896707	-2.12188863542438	0.00167	0.007337207	3.705165035272E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-1.99	0.07047	-2.672000	0.00915	.	.	-3.099000	0.00124	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4704:0.3018:0.2278	4.218	0.09998	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1511.14	34	chr19	54855702	.	T	A	1511.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7;DP=1322;ExcessHet=0.2348;FS=48.567;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.76;MQRankSum=-18.72;QD=1.99;ReadPosRankSum=-4.941;SOR=5.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1260:.	8	0	2	0
chr19	54855712	54855712	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A749T:p.Y250F,KIR3DL2:NM_006737:exon5:c.A749T:p.Y250F	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00162832317537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.011	0.15521	B	0.582363	0.11131	N	0.677554	1	0.08975	N	-0.85	0.01485	N	4.1	0.02944	T	1.46	0.00775	N	0.114	0.12198	-0.9161	0.46076	T	0.003	0.01026	T	10	0.027252734	0.00875	T	0.001628	0.02651	T	0.012	0.01476	0.509	0.60540	0.101711395817	0.09552	0.01728898292730494	0.01683	1.5806642636	0.88385	0.423110246658	0.28265	T	0.012224	0.10783	T	-0.376184	0.03293	T	-0.778139	0.02510	T	0.0609680625727	0.07321	T	.	.	.	0.084882095	0.19667	0.028344387	0.01062	0.084882095	0.19666	0.028344387	0.01062	-0.036	0.00374	T	.	.	0.096	0.15296	B	.;.	.;.	-0.434923	0.02086	0.194	0.28175452013278124	0.01434	0.00020	0.00220	N	AEFBI	0.013809	0.00197	N	-1.90629648151444	0.00333	0.01431343	-1.91087114090788	0.00466	0.02062847	1.66258050066668E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.121	0.12875	-0.128000	0.10508	.	.	-0.281000	0.06419	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3866:0.0:0.0:0.6134	3.114	0.05984	982	0.03397	Immunoglobulin|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	455.14	34	chr19	54855712	.	A	T	455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=8.15;DP=1313;ExcessHet=0.2348;FS=43.825;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.42;MQRankSum=-19.01;QD=0.6;ReadPosRankSum=-4.024;SOR=5.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1260:.	8	0	2	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3569.14	42	chr19	54859084	.	C	T	3569.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.235;DP=1085;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=43.89;MQRankSum=-7.057;QD=4.55;ReadPosRankSum=-1.051;SOR=0.673	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	8	0	2	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3545.1	42	chr19	54859096	.	TGG	T	3545.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.709;DP=1098;ExcessHet=0.2348;FS=0.72;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.67;MQRankSum=-5.643;QD=4.49;ReadPosRankSum=1.42;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	8	0	2	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3545.1	42	chr19	54859099	.	C	CAT	3545.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.597;DP=1096;ExcessHet=0.2348;FS=0.72;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.52;MQRankSum=-5.643;QD=4.49;ReadPosRankSum=1.8;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1485:.	8	0	2	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3103.14	42	chr19	54859126	.	T	A	3103.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.578;DP=1051;ExcessHet=0.2348;FS=0.733;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=41.87;MQRankSum=-3.739;QD=4.17;ReadPosRankSum=5.77;SOR=0.608	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	8	0	2	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15828.2	34	chr19	54865810	.	T	C	15828.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.521;DP=1456;ExcessHet=2.8389;FS=1.162;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-9.966;QD=12.94;ReadPosRankSum=1.02;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15804.2	34	chr19	54865825	.	G	A	15804.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.712;DP=1509;ExcessHet=2.8389;FS=0.548;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.56;MQRankSum=-10.27;QD=12.39;ReadPosRankSum=1.42;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15765.2	34	chr19	54865847	.	T	C	15765.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.92;DP=1527;ExcessHet=2.8389;FS=1.17;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-10.24;QD=12.22;ReadPosRankSum=-0.054;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	15501.2	34	chr19	54865852	.	T	A	15501.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.003;DP=1520;ExcessHet=2.8389;FS=1.853;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.54;MQRankSum=-10.09;QD=12.04;ReadPosRankSum=-0.456;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14715.2	34	chr19	54865864	.	C	A	14715.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.33;DP=1488;ExcessHet=2.8389;FS=1.176;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.7;MQRankSum=-9.413;QD=11.76;ReadPosRankSum=-0.902;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	14632.2	34	chr19	54865870	.	C	T	14632.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.51;DP=1465;ExcessHet=2.8389;FS=0.553;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.69;MQRankSum=-9.557;QD=11.88;ReadPosRankSum=-1.277;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13373.2	34	chr19	54865885	.	T	C	13373.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.07;DP=1392;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.61;MQRankSum=-9.308;QD=11.56;ReadPosRankSum=-1.506;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	13039.2	34	chr19	54865888	.	C	T	13039.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.85;DP=1373;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.58;MQRankSum=-9.099;QD=11.43;ReadPosRankSum=-1.48;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	12453.2	34	chr19	54865893	.	G	C	12453.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.03;DP=1329;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.55;MQRankSum=-8.765;QD=11.42;ReadPosRankSum=-1.821;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1253:.	5	0	5	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	12846.6	33	chr19	54866420	.	C	G	12846.6	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.779;DP=1543;ExcessHet=1.5895;FS=6.87;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=56.21;MQRankSum=-16.34;QD=10.73;ReadPosRankSum=2;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1186:.	6	0	4	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D,KIR3DL2:NM_006737:exon9:c.A1170T:p.E390D	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3037.14	33	chr19	54866533	.	A	T	3037.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.496;DP=1938;ExcessHet=0.2348;FS=49.868;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=56.52;MQRankSum=-21.85;QD=3.08;ReadPosRankSum=0.433;SOR=2.928	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1186	8	0	2	0
chr19	54983484	54983484	C	T	exonic	NLRP2	.	nonsynonymous SNV	NLRP2:NM_001174082:exon5:c.C1720T:p.H574Y,NLRP2:NM_001174081:exon6:c.C1786T:p.H596Y,NLRP2:NM_001348003:exon6:c.C1777T:p.H593Y,NLRP2:NM_017852:exon6:c.C1786T:p.H596Y,NLRP2:NM_001174083:exon7:c.C1717T:p.H573Y	.	0	1489	33	0	0	33	0.0109598	.	.	.	2818828	not_provided|NLRP2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0039	0.00479233	0.0048	0.0010	0.0028	0	0.0026	0.0058	0.0044	0.0079	0.0046312	716	154602	rs145361990	0.0046	0.0046	0.0044	0.0048	0.0088	0.0045	0.0044	0.0083	0.0081	0.0010	0.0030	0.0007	2.519e-05	0.0019	0.0054	0.0048	0.0047	0.0088	0.0042	0.0042	0.0041	0.0044	0.0093	0.0040	0.0039	0.0072	0.0064	0.0012	0.0208	0.0077	0.0003	0	0.0011	0	0.0058	0.0052	0.0093	1.0	0.00964	T	0.499	0.11933	T	0.0	0.02946	B	0.001	0.06944	B	0.074628	0.02289	N	2.378200	1	0.08975	N	0.41	0.12415	N	-0.77	0.73949	T	0.06	0.06253	N	0.07	0.05162	-0.9344	0.43485	T	0.182	0.53011	T	10	0.00559476	0.00124	T	.	.	.	0.093	0.26882	.	.	0.395143324098	0.39128	0.03770287522398932	0.03716	0.0496665203147	0.05445	0.261837333441	0.05111	T	0.007063	0.06479	T	-0.558919	0.00258	T	-0.570216	0.15430	T	0.00170639181622296	0.00017	T	.	.	.	0.028675193	0.02242	0.030178016	0.01442	0.028675193	0.02242	0.030178016	0.01442	-4.825	0.35836	T	.	.	0.071	0.05711	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.149311	0.00584	0.015	0.31505606775996231	0.01779	0.00872	0.03453	N	AEFDBI	0.067742	0.13331	N	-1.27453258896287	0.03984	0.1790299	-1.37898663334734	0.03477	0.1622601	9.90866055990346E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	1.79	-0.749	0.10525	-2.326000	0.01195	.	.	-0.300000	0.06199	0.000000	0.06391	.	.	0.000000	0.00833	0.0:0.5254:0.0:0.4746	4.275	0.10253	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.1	4609.14	212	chr19	54983484	.	C	T	4609.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.15;DP=1377;ExcessHet=0.2348;FS=1.674;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=1.44;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	8	0	2	0
chr19	55087331	55087331	G	A	exonic	EPS8L1	.	nonsynonymous SNV	EPS8L1:NM_017729:exon14:c.G1600A:p.G534R,EPS8L1:NM_133180:exon19:c.G1981A:p.G661R	.	.	.	.	.	.	.	.	.	.	.	3671341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.594	0.205932614112	.	.	0.0002	0	0	0.0023	0	0	0	0	0.0001035	16	154602	rs577392527	6.031e-05	6.02e-05	5.591e-05	6.476e-05	0.0020	4.971e-05	4.635e-05	0.0017	0.0015	0	0	0	0.0020	0	0	1.8e-06	6.649e-05	2.327e-05	4.596e-05	4.593e-05	5.139e-05	4.028e-05	0.0008	2.108e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000578	0.43250	D	0.192830	1	0.81001	D	3.42	0.91902	M	-0.01	0.62762	T	-7.31	0.95305	D	0.79	0.78641	0.087	0.83944	D	0.470	0.79621	T	10	0.53926057	0.63625	D	0.205933	0.87012	D	0.594	0.83857	0.757	0.88648	0.695673701671	0.69304	0.7779599578529227	0.77745	1.0017946729	0.74433	0.72983700037	0.71482	T	0.448486	0.79494	T	-0.0925813	0.37651	T	0.0641579	0.74522	D	0.539944362852598	0.34102	D	0.866813	0.58915	D	0.88180476	0.89816	0.8620714	0.92321	0.88180476	0.89817	0.8620714	0.92321	-14.331	0.94083	D	.	.	0.870	0.84754	P	.;.;.;.	.;.;.;.	5.524215	0.91810	32	0.99830121862200205	0.91198	0.90852	0.52383	D	ALL	0.857240	0.77457	D	0.52037463976133	0.68294	5.197661	0.352716818440246	0.58670	4.039078	0.999999999999999	0.74766	0.72623	0.87236	0	0.609123	0.50646	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.02	4.02	0.45968	6.116000	0.71264	6.481000	0.55737	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.593000	0.31214	0.0:0.0:1.0:0.0	14.413	0.66694	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	977.43	34	chr19	55087331	.	G	A	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=414;ExcessHet=0;FS=3.919;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=-2.214;SOR=0.85	GT:AD:DP:GQ:PL	0/1:52,41:93:99:989,0,1174	9	0	1	0
chr19	55165381	55165381	A	G	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256714:exon4:c.T515C:p.M172T,DNAAF3:NM_001256715:exon4:c.T311C:p.M104T,DNAAF3:NM_001256716:exon4:c.T149C:p.M50T,DNAAF3:NM_178837:exon4:c.T452C:p.M151T	Ciliary dyskinesia, primary, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0128572177481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1290601485	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.007	0.74150	D	0.933	0.52105	P	0.623	0.51505	P	0.000000	0.84330	D	0.000000	0.994482	0.42299	D	2.255	0.64187	M	2.05	0.20808	T	-4.83	0.80943	D	0.504	0.57348	-1.0063	0.28065	T	0.117	0.41231	T	10	0.430144	0.57436	T	0.012857	0.31797	T	0.128	0.35103	0.254	0.19378	0.559348659643	0.55595	0.7127735543698205	0.71219	1.10095850674	0.77725	0.744287192822	0.73603	T	0.605949	0.92711	D	-0.0399891	0.45950	T	-0.198364	0.54802	T	0.9838587641716	0.75369	D	0.673433	0.29211	T	0.5422754	0.69523	0.35876024	0.61346	0.5422754	0.69524	0.35876024	0.61346	-4.769	0.75624	T	0.5869029530105394	0.65371	0.513	0.71713	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.708058	0.52926	23.3	0.98773357466028244	0.46002	0.97330	0.74070	D	AEFDBI	0.716711	0.66846	D	0.465970295216277	0.65115	4.782046	0.435989282958109	0.63822	4.623796	0.999999278397075	0.74766	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.586402	0.36253	0	.	.	4.56	4.56	0.55644	3.796000	0.55211	10.869000	0.84005	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.552000	0.30221	1.0:0.0:0.0:0.0	13.218	0.59296	988	0.01987	Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470;Domain of unknown function DUF4470	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	672.43	35	chr19	55165381	.	A	G	672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.477;DP=355;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.708;SOR=0.756	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1283	9	0	1	0
chr19	55165795	55165795	A	C	exonic	DNAAF3	.	nonsynonymous SNV	DNAAF3:NM_001256716:exon3:c.T53G:p.I18S	Ciliary dyskinesia, primary, 2, Autosomal recessive	0	1494	26	2	0	30	0.00994036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	0.000199681	0.0024	0	0	0	0	0.0033	0.0104	0.0023	0.0006404	99	154602	rs537635826	0.0006	0.0006	0.0005	0.0007	0.0044	0.0006	0.0005	0.0030	0.0026	6.182e-05	0.0005	0.0020	0	2.046e-05	0.0044	0.0005	0.0012	0.0022	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	4.824e-05	0	0.0010	0.0020	0	0	0.0068	0.0007	0.0005	0.0008	0.011	0.55530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.3	0.16953	T	0.4	0.03463	N	0.202	0.22357	-0.9537	0.40327	T	0.016	0.06425	T	8	0.00550279	0.00121	T	.	.	.	0.014	0.01968	.	.	0.0716867268079	0.06686	.	.	.	.	.	.	.	.	.	.	-0.674487	0.00052	T	-0.748106	0.03560	T	0.012129488222065	0.00193	T	0.361964	0.08365	T	.	.	.	.	.	.	.	.	-1.348	0.01480	T	.	.	0.134	0.29060	B	.	.	0.599689	0.09679	6.452	0.95362320973247905	0.26763	0.06154	0.12135	N	AEFGBCI	0.088806	0.18002	N	-1.02745366790125	0.08037	0.3754451	-1.10485010075216	0.07607	0.3706807	0.999224403668781	0.38808	0.516011	0.20929	0	0.563428	0.19063	0	0.491513	0.07944	0	0.586402	0.36253	0	.	.	2.4	0.442	0.15794	-0.566000	0.06013	-1.184000	0.06088	0.684000	0.82519	0.000000	0.06391	0.000000	0.08366	0.141000	0.19983	0.6684:0.3316:0.0:0.0	6.101	0.19268	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	899.43	33	chr19	55165795	.	A	C	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.674;DP=366;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.78;ReadPosRankSum=-0.32;SOR=0.741	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:46,0:78:99:0|1:55358524_C_T:1181,1319,3169:55358524	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:48,0:81:99:0|1:55358524_C_T:1198,1341,3206:55358524	1	8	1	0
chr19	55359702	55359702	C	G	exonic	FAM71E2	.	nonsynonymous SNV	FAM71E2:NM_001145402:exon9:c.G1166C:p.G389A	.	405	1110	7	0	0	7	0.00314324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00486256591241	.	0.000798722	0.0031	0	0	0	0	0.0001	0	0.0076	0.0004398	68	154602	rs577584429	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	0	0	0.0005	3.151e-05	0.0003	0.0054	0.0001	0.0001	5.139e-05	0.0002	0.0035	9.144e-05	7.7e-05	0.0022	0.0018	2.407e-05	0	0	0	0	0	0	4.412e-05	0	0.0035	0.099	0.30656	T	0.368	0.16570	T	0.447	0.36006	B	0.043	0.24256	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.58	0.13434	T	-1.76	0.41618	N	0.028	0.00618	-0.9583	0.39497	T	0.009	0.03271	T	9	0.0068130493	0.00155	T	0.004863	0.12192	T	0.067	0.19503	0.225	0.14960	0.0138822411134	0.00435	0.04264334400597685	0.04209	.	.	0.294133484364	0.09529	T	0.004891	0.04311	T	-0.708739	0.00032	T	-0.788497	0.02206	T	0.0473001382491958	0.05019	T	0.458654	0.13238	T	0.062285375	0.12991	0.06880546	0.14417	0.062285375	0.12991	0.06880546	0.14417	-2.467	0.05560	T	.	.	0.115	0.22933	B	.	.	0.520331	0.08890	5.671	0.86026786248374432	0.16265	0.08367	0.14305	N	AEFDGBC	0.036357	0.04831	N	-1.28534167356301	0.03851	0.1727849	-1.39877483382382	0.03265	0.1519673	0.00631235876970771	0.11185	0.517182	0.21443	0	0.626922	0.53725	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.88	-4.78	0.02975	-1.233000	0.03043	.	.	0.594000	0.32500	0.000000	0.06391	.	.	0.008000	0.08271	0.2986:0.3138:0.1582:0.2294	0.406	0.00404	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001082	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.009091	0.05	1406.43	40	chr19	55359702	.	C	G	1406.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.928;DP=440;ExcessHet=0;FS=1.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.4;SOR=0.47	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,105,1575	9	0	1	0
chr19	55513092	55513092	G	T	exonic	SSC5D	.	nonsynonymous SNV	SSC5D:NM_001144950:exon13:c.G2867T:p.G956V	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00872518189615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.43e-06	2.052e-06	0	2.9e-06	9.274e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.274e-07	1.725e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.52727	D	0.437	0.35811	B	0.108	0.31289	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.91	0.01413	T	-0.09	0.08340	N	0.135	0.13198	-0.9607	0.39050	T	0.005	0.01688	T	9	0.10866365	0.20237	T	0.008725	0.23025	T	0.035	0.08770	0.464	0.53404	0.0401082797425	0.02173	0.2831891914565714	0.28231	0.0264939278089	0.02708	0.277382791042	0.07130	T	0.010862	0.09766	T	-0.277932	0.10887	T	-0.637007	0.09888	T	0.112168523841548	0.13647	T	0.508649	0.16166	T	0.042842507	0.06570	0.05884488	0.10942	0.042842507	0.06570	0.05884488	0.10941	-6.185	0.47801	T	.	.	0.125	0.26482	B	.	.	0.861922	0.12343	8.883	0.79676536692223499	0.12850	0.01235	0.04363	N	AEFBI	0.038664	0.05506	N	-0.987340426412752	0.08873	0.4177448	-1.1684334673802	0.06444	0.3101761	0.00122716859316664	0.08353	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.91	-2.28	0.06438	-0.062000	0.11631	-0.110000	0.11840	-0.199000	0.08999	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.2637:0.4104:0.3259:0.0	4.059	0.09307	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	768.43	67	chr19	55513092	.	G	T	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.66;DP=390;ExcessHet=0;FS=2.063;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.309;SOR=1.074	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1033	9	0	1	0
chr19	55615050	55615050	G	A	exonic	ZNF865	.	nonsynonymous SNV	ZNF865:NM_001195605:exon2:c.G1432A:p.A478T	.	458	1063	1	0	0	1	0.000470146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068909372648	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs537830532	5.456e-06	4.174e-05	5.251e-06	5.678e-06	0.0001	1.96e-06	1.29e-06	3.494e-05	2.112e-05	0	0	0	0	0	0	1.077e-06	2.34e-05	0.0001	1.996e-05	1.974e-05	1.3e-05	2.726e-05	0.0002	5.31e-06	2.47e-06	.	.	0	0	6.611e-05	0	0	0	0	1.487e-05	0	0.0002	0.373	0.11442	T	0.017	0.60337	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	3.23	0.06931	T	-0.3	0.11913	N	0.216	0.24135	.	.	.	.	.	.	.	0.045002043	0.03520	T	0.068909	0.70584	D	.	.	.	.	0.348324211639	0.34438	0.3166449970258697	0.31577	.	.	0.814589500427	0.84196	D	0.010889	0.09781	T	-0.310285	0.07722	T	-0.683479	0.06773	T	.	.	.	0.373163	0.08852	T	0.025289046	0.01451	0.040424768	0.04366	0.025289046	0.01451	0.040424768	0.04365	-5.193	0.38871	T	.	.	0.078	0.06942	B	.	.	0.700411	0.10689	7.386	0.93472094106774439	0.23265	0.08115	0.14083	N	AEFDBI	0.017042	0.00421	N	.	.	.	.	.	.	0.0155067361493744	0.12721	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	4.41	-0.511	0.11372	2.485000	0.44909	0.424000	0.18252	-0.242000	0.07441	0.085000	0.22462	0.000000	0.08366	0.088000	0.17685	0.1868:0.1509:0.5076:0.1547	2.389	0.04105	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	103.01	17	chr19	55615050	.	G	A	103.01	.	AC=2;AF=0.1;AN=20;DP=140;ExcessHet=0;FS=0;InbreedingCoeff=0.857;MLEAC=1;MLEAF=0.05;MQ=60;QD=25.75;SOR=0.693	GT:AD:DP:GQ:PL	0/0:11,0:11:24:0,24,360	9	1	0	0
chr19	55693034	55693034	G	A	exonic	EPN1	.	nonsynonymous SNV	EPN1:NM_013333:exon8:c.G1183A:p.A395T,EPN1:NM_001130071:exon9:c.G1519A:p.A507T,EPN1:NM_001130072:exon9:c.G1261A:p.A421T,EPN1:NM_001321263:exon9:c.G1258A:p.A420T	.	387	1131	4	0	0	4	0.00176523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0291393409283	0.0002	0.000599042	0.0006	0	0.0002	0.0005	0.0002	0.0004	0	0.0024	0.000511	79	154602	rs199812536	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0022	0.0021	5.976e-05	0.0001	0.0023	5.042e-05	9.424e-05	0.0016	0.0002	0.0006	0.0024	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.405e-05	0	0.0001	0.0006	0.0002	0	0	0.0002	0.0005	0.0027	0.892	0.10482	T	0.68	0.12142	T	0.0	0.07471	B	0.0	0.04355	B	0.133674	0.18543	N	0.528443	1	0.81001	D	-0.515	0.02571	N	2.56	0.14284	T	0.32	0.03955	N	0.162	0.23125	-0.9852	0.33784	T	0.014	0.05561	T	10	0.0073438287	0.00167	T	0.029139	0.51700	D	0.013	0.01715	.	.	0.151104730317	0.14643	0.2265663746096497	0.22571	0.0725149634754	0.08127	0.674110293388	0.63424	T	.	.	.	-0.701029	0.00036	T	-0.785923	0.02279	T	0.0251136059617373	0.01287	T	0.59724	0.22311	T	0.016734658	0.00218	0.03213483	0.01904	0.016734658	0.00218	0.03213483	0.01903	-3.988	0.25936	T	.	.	0.054	0.00573	B	.;.;.	.;.;.	2.093171	0.26629	17.18	0.95348320618777849	0.26729	0.15014	0.18701	N	AEFDBCI	0.075686	0.15206	N	-0.871003509529483	0.11536	0.5572507	-0.716286222329028	0.16556	0.8763526	0.016434803962656	0.12831	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	1.77	0.23848	1.189000	0.31723	6.735000	0.56468	-0.121000	0.13915	0.999000	0.42656	1.000000	0.68203	0.571000	0.30675	0.6915:0.1973:0.1112:0.0	4.531	0.11411	889	0.27310	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001582	0.005618	0.000000	0.000000	0.000000	0.000000	0.003185	0.003906	0.05	1909.43	33	chr19	55693034	.	G	A	1909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.956;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=2.02;SOR=0.66	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1135	9	0	1	0
chr19	55711849	55711849	C	T	exonic	NLRP9	.	nonsynonymous SNV	NLRP9:NM_176820:exon8:c.G2794A:p.V932M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00295133415361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.20912	T	0.196	0.32040	T	0.107	0.26081	B	0.094	0.30180	B	.	.	.	.	1	0.08975	N	.	.	.	1.02	0.40749	T	-0.25	0.11008	N	0.277	0.31365	-1.0027	0.29139	T	0.054	0.22808	T	9	0.16734806	0.31224	T	0.002951	0.06280	T	0.014	0.01968	0.513	0.61153	0.295623431141	0.29171	0.07242330243012213	0.07179	0.055191105415	0.06109	0.335673987865	0.15790	T	0.013125	0.11410	T	-0.323353	0.06627	T	-0.702251	0.05704	T	0.0939414625412152	0.11677	T	0.531747	0.17685	T	0.028623257	0.02227	0.05184922	0.08425	0.028623257	0.02227	0.05184922	0.08425	-4.256	0.27556	T	.	.	0.120	0.29088	B	.;.	.;.	-0.371252	0.02323	0.248	0.69831593299366335	0.09098	0.00780	0.03203	N	AEFDBI	0.036383	0.04840	N	-1.46234217500512	0.02121	0.09334319	-1.57228087575093	0.01827	0.08322415	0.00607051202303455	0.11119	0.487112	0.14033	0	0.550933	0.16991	0	0.573888	0.23631	0	0.562822	0.20929	0	.	.	3.13	-4.15	0.03617	-1.624000	0.02141	-5.906000	0.01557	-0.915000	0.02235	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.3193:0.313:0.1568:0.2109	0.532	0.00588	912	0.21483	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2581.43	37	chr19	55711849	.	C	T	2581.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.72;DP=568;ExcessHet=0;FS=4.302;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-1.156;SOR=0.951	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1392	9	0	1	0
chr19	55761991	55761991	A	G	exonic	RFPL4A	.	nonsynonymous SNV	RFPL4A:NM_001145014:exon2:c.A191G:p.K64R	.	452	1061	8	1	0	10	0.00469043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	.	0.00219649	0.0043	0	0.0024	0	0.0201	0.0048	0.0103	0.0031	0.0011061	171	154602	rs202102526	0.0050	0.0049	0.0050	0.0050	0.0052	0.0049	0.0048	0.0051	0.0051	0.0006	0.0031	0.0012	8.399e-05	0.0138	0.0042	0.0052	0.0040	0.0026	0.0046	0.0047	0.0042	0.0050	0.0060	0.0043	0.0042	0.0050	0.0046	0.0011	0	0.0060	0.0020	0.0002	0.0158	0	0.0052	0.0035	0.0028	0.177	0.22224	T	0.424	0.13953	T	0.0	0.02946	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	1.9	0.23486	T	-0.31	0.12099	N	0.065	0.03726	-1.0358	0.18606	T	0.026	0.11220	T	9	0.0036705732	0.00067	T	.	.	.	0.002	0.00045	.	.	0.0297737177859	0.01360	0.052387686679110354	0.05180	0.642582153666	0.57820	0.470957577229	0.34812	T	0.007892	0.07266	T	-0.70033	0.00036	T	-0.777936	0.02516	T	0.00230836032271605	0.00024	T	0.345165	0.07572	T	0.0277982	0.02022	0.03040241	0.01490	0.0277982	0.02022	0.03040241	0.01490	-4.089	0.25128	T	.	.	0.081	0.08417	B	.	.	0.157165	0.05482	1.950	0.67676882740748467	0.08426	0.00236	0.01316	N	AEFGI	0.020793	0.00858	N	-1.86359620726495	0.00407	0.0175176	-1.99654613396975	0.00311	0.01374765	0.777143047110315	0.23771	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.31	-6.62	0.01646	-2.308000	0.01212	-20.000000	0.00162	-0.971000	0.01942	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1583:0.4539:0.1847:0.2031	2.282	0.03865	834	0.38640	RDM domain, Ret finger protein-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1598.12	40	chr19	55761991	.	A	G	1598.12	.	AC=2;AF=0.1;AN=20;DP=327;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=38.17;QD=33.59;SOR=1.005	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,789	9	1	0	0
chr19	55789307	55789307	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon9:c.G2309A:p.S770N,NLRP11:NM_001385451:exon9:c.G2444A:p.S815N,NLRP11:NM_145007:exon10:c.G2606A:p.S869N	.	425	1094	3	0	0	3	0.00136924	.	.	.	2370935	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.004	0.00643214121854	7.7e-05	.	2.472e-05	0	8.639e-05	0	0	2.999e-05	0	0	1.94e-05	3	154602	rs148312368	2.805e-05	2.805e-05	3.267e-05	2.338e-05	0.0002	2.087e-05	1.878e-05	2.116e-05	1.862e-05	0	0	0	0	0	0.0002	2.968e-05	6.623e-05	3.478e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0002	8.14e-06	5.14e-06	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.074	0.42976	T	0.067	0.26290	B	0.076	0.28435	B	.	.	.	.	1	0.19925	N	0.345	0.11182	N	1.11	0.38883	T	.	.	.	0.15	0.15328	-1.0104	0.26791	T	0.049	0.20868	T	9	0.14866751	0.28149	T	0.006432	0.16927	T	.	.	.	.	0.239901079897	0.23603	0.10230109028309474	0.10160	.	.	0.318358033895	0.13173	T	0.004339	0.03748	T	-0.43344	0.01413	T	-0.729932	0.04330	T	0.0354650147283263	0.02887	T	0.506949	0.16072	T	0.034988057	0.04032	0.057601508	0.10501	0.034988057	0.04031	0.057601508	0.10500	-3.235	0.12914	T	.	.	0.302	0.58023	B	.;.;.	.;.;.	-0.562674	0.01677	0.120	0.12947213888588519	0.00240	0.00529	0.02453	N	AEFBI	0.039079	0.05625	N	-1.32085684422296	0.03437	0.1535312	-1.37159011779358	0.03558	0.1661998	1.1790205231912E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.92	-0.426	0.11700	-1.130000	0.03353	-3.745000	0.02565	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.586:0.0:0.414	5.271	0.14937	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5620.12	39	chr19	55789307	.	C	T	5620.12	.	AC=2;AF=0.1;AN=20;DP=535;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.88;SOR=0.883	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1244	9	1	0	0
chr19	56027629	56027629	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1396A:p.D466N	.	429	1085	8	0	0	8	0.00367309	.	.	.	742126	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0150634975102	.	0.000199681	0.0003	0	0	0	0	3.02e-05	0	0.0021	0.0002523	39	154602	rs564724393	0.0002	0.0002	9.669e-05	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	3.826e-05	7.557e-05	0	0.0010	2.248e-05	0.0003	0.0024	6.565e-05	6.561e-05	1.285e-05	0.0001	0.0019	3.514e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	1.47e-05	0	0.0019	0.523	0.07187	T	0.007	0.69154	D	0.308	0.32740	B	0.044	0.24394	B	0.390255	0.13265	N	0.619175	1	0.08975	N	1.405	0.35469	L	-0.56	0.71187	T	-0.32	0.12283	N	0.243	0.28732	-1.0161	0.24980	T	0.150	0.47717	T	10	0.011842996	0.00257	T	0.015063	0.35570	T	0.061	0.17616	.	.	0.499600832404	0.49597	0.1981575292318437	0.19732	0.0373431891755	0.03961	0.293145656586	0.09382	T	0.048647	0.28079	T	-0.556538	0.00266	T	-0.57868	0.14663	T	0.029054005660662	0.01845	T	0.645335	0.25688	T	0.051006146	0.09301	0.034077313	0.02410	0.051006146	0.09300	0.034077313	0.02409	-3.457	0.15835	T	.	.	0.127	0.26917	B	.;.	.;.	1.616677	0.20655	14.85	0.99583085326899112	0.73159	0.01011	0.03813	N	AEFDBI	0.035793	0.04666	N	-0.819370924252605	0.12815	0.6271583	-0.894638395897221	0.12220	0.6273383	2.14375670872194E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	1.77	0.23848	1.831000	0.38781	3.301000	0.37383	0.675000	0.71128	0.012000	0.18695	0.684000	0.26137	0.007000	0.07825	0.1486:0.0:0.8514:0.0	5.889	0.18146	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1662.43	139	chr19	56027629	.	G	A	1662.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=917;ExcessHet=0;FS=7.896;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.498;SOR=0.948	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	9	0	1	0
chr19	56027647	56027647	G	A	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.G1414A:p.A472T	.	429	1075	17	1	0	19	0.0087598	.	.	.	716699	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.108	.	0.0036	0.00658946	0.0053	0.0058	0.0030	0	0	0.0029	0.0033	0.0213	0.0049353	763	154602	rs138053847	0.0043	0.0043	0.0038	0.0048	0.0216	0.0042	0.0042	0.0207	0.0204	0.0063	0.0022	0.0004	2.519e-05	0.0003	0.0033	0.0034	0.0045	0.0216	0.0040	0.0040	0.0038	0.0042	0.0191	0.0037	0.0036	0.0159	0.0147	0.0060	0.0165	0.0024	0.0003	0.0002	0	0	0.0030	0.0038	0.0191	0.596	0.05703	T	0.218	0.26066	T	0.734	0.42776	P	0.156	0.34472	B	0.170130	0.03104	N	1.955820	1	0.08975	N	0.55	0.14455	N	-0.69	0.72678	T	-0.31	0.12099	N	0.116	0.11340	-0.9232	0.45112	T	0.116	0.40986	T	10	0.0054012835	0.00119	T	.	.	.	0.108	0.30607	.	.	0.335661160332	0.33175	0.12466704048598752	0.12392	0.0220801985691	0.02212	0.188550025225	0.00200	T	0.062841	0.32021	T	-0.531602	0.00376	T	-0.520791	0.20215	T	0.0106503735744448	0.00149	T	0.570043	0.20293	T	0.023743112	0.01140	0.037205417	0.03324	0.023743112	0.01140	0.037205417	0.03324	-5.311	0.40052	T	.	.	0.097	0.15654	B	.;.	.;.	-0.870174	0.00977	0.039	0.87840626277462941	0.17521	0.00258	0.01414	N	AEFDBI	0.017920	0.00505	N	-1.35429293064307	0.03081	0.1370572	-1.56594203968662	0.01868	0.08516214	0.00234955334658641	0.09341	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.82	-5.63	0.02276	-3.609000	0.00465	-6.271000	0.01446	-0.246000	0.07238	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6778:0.0:0.1761:0.1461	6.094	0.19232	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.018939	0.1	5290.12	139	chr19	56027647	.	G	A	5290.12	.	AC=2;AF=0.1;AN=20;DP=895;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.06;SOR=0.881	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1123	9	1	0	0
chr19	56032678	56032678	C	T	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon8:c.C2344T:p.H782Y	.	423	1096	3	0	0	3	0.00136674	.	.	.	742130	NLRP5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.275	.	.	0.00219649	0.0014	0	0	0	0	0	0.0011	0.0099	0.0011643	180	154602	rs577329143	0.0006	0.0006	0.0003	0.0009	0.0100	0.0006	0.0006	0.0094	0.0092	5.974e-05	0	0	0	0	0.0003	6.296e-06	0.0007	0.0100	0.0003	0.0003	0.0002	0.0005	0.0101	0.0003	0.0002	0.0079	0.0071	2.405e-05	0	0	0	0	0	0	0	0	0.0101	0.114	0.28646	T	0.09	0.40267	T	0.773	0.44016	P	0.285	0.40506	B	0.322249	0.04081	N	1.570170	1	0.08975	N	1.445	0.36358	L	-2.55	0.89561	D	-2.82	0.59545	D	0.136	0.13341	-0.4095	0.71726	T	0.596	0.85565	D	10	0.012106985	0.00261	T	.	.	.	0.275	0.59130	0.425	0.47021	0.655252992372	0.65237	0.11425488526759034	0.11353	0.0277034684457	0.02835	0.288168340921	0.08655	T	0.349518	0.71736	T	-0.488488	0.00662	T	-0.466494	0.25896	T	0.120404414611017	0.14469	T	0.646635	0.25786	T	0.05983277	0.12206	0.071719706	0.15391	0.05983277	0.12205	0.071719706	0.15391	-5.247	0.39416	T	.	.	0.082	0.08948	B	.;.	.;.	0.577378	0.09458	6.237	0.92357357041159305	0.21760	0.01374	0.04687	N	AEFDBI	0.029794	0.02878	N	-0.733236453017967	0.15093	0.7575935	-0.911964827490416	0.11812	0.604019	1.66394303621064E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.64	-0.115	0.12899	-1.442000	0.02514	0.947000	0.22895	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4645:0.3449:0.1906:0.0	4.556	0.11532	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2869.43	34	chr19	56032678	.	C	T	2869.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.961;DP=560;ExcessHet=0;FS=3.563;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-0.785;SOR=0.6	GT:AD:DP:GQ:PL	0/1:120,121:241:99:2881,0,2883	9	0	1	0
chr19	56158515	56158515	G	A	exonic	ZNF444	.	nonsynonymous SNV	ZNF444:NM_001253792:exon4:c.G319A:p.G107R,ZNF444:NM_018337:exon4:c.G319A:p.G107R	.	426	1061	35	0	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0067	0.00339457	0.0082	0.0020	0.0049	0	0.0043	0.0115	0.0125	0.0069	0.007943	1228	154602	rs61736532	0.0094	0.0094	0.0095	0.0093	0.0109	0.0093	0.0092	0.0107	0.0107	0.0014	0.0046	0.0007	0	0.0043	0.0096	0.0109	0.0082	0.0066	0.0064	0.0064	0.0069	0.0058	0.0108	0.0060	0.0059	0.0101	0.0099	0.0020	0.0044	0.0029	0.0006	0.0002	0.0030	0	0.0108	0.0095	0.0095	0.697	0.04213	T	0.439	0.13365	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.68	0.05014	T	0.6	0.02518	N	0.128	0.12198	-0.9002	0.47973	T	0.005	0.01542	T	9	0.0043236613	0.00087	T	.	.	.	0.004	0.00165	0.283	0.23961	0.110392049598	0.10638	0.2570395806797124	0.25617	0.937401965757	0.72080	0.565487921238	0.48041	T	0.004692	0.04103	T	-0.724695	0.00026	T	-0.803363	0.01820	T	4.98587724118808e-05	0.00000	T	0.317668	0.06346	T	0.029129205	0.02357	0.04610857	0.06352	0.029129205	0.02357	0.04610857	0.06352	-4.002	0.24177	T	.	.	0.294	0.52524	B	.;.	.;.	-0.074704	0.03794	0.801	0.45673323173144625	0.03602	0.01628	0.05253	N	AEFDBI	0.048564	0.08300	N	-1.46357144132358	0.02112	0.09293035	-1.50598447123722	0.02297	0.1054501	0.0246714341579052	0.13596	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	2.69	-1.29	0.08805	-0.132000	0.10446	.	.	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4134:0.4452:0.1414	5.051	0.13849	928	0.17405	SCAN domain;SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008065	0.010101	0.006793	0.002924	0.000000	0.008621	0.015337	0.007576	0.05	941.43	36	chr19	56158515	.	G	A	941.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=420;ExcessHet=0;FS=3.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=0.04;SOR=0.778	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1034	9	0	1	0
chr19	56191902	56191902	G	A	exonic	ZSCAN5B	.	nonsynonymous SNV	ZSCAN5B:NM_001080456:exon3:c.C536T:p.A179V,ZSCAN5B:NM_001385638:exon3:c.C536T:p.A179V	.	427	1081	13	1	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.000443102438536	0.0012	0.000399361	0.0010	0	0.0003	0	0	0.0012	0.0011	0.0018	0.0008732	135	154602	rs199497935	0.0011	0.0011	0.0009	0.0012	0.0090	0.0010	0.0010	0.0071	0.0064	2.987e-05	0.0005	0.0010	0	0.0001	0.0090	0.0010	0.0014	0.0023	0.0008	0.0008	0.0009	0.0006	0.0019	0.0007	0.0006	0.0010	0.0008	0.0003	0	0.0008	0.0017	0	0.0002	0	0.0010	0.0024	0.0019	0.196	0.20683	T	0.269	0.22426	T	0.997	0.70673	D	0.985	0.76457	D	.	.	.	.	1	0.08975	N	1.68	0.43186	L	3.4	0.05642	T	-0.74	0.20791	N	0.03	0.00717	-1.0366	0.18357	T	0.031	0.13461	T	9	0.006159246	0.00139	T	4.43E-4	0.00099	T	0.032	0.07718	.	.	0.143124449307	0.13826	0.07072266230011033	0.07009	0.0983498862426	0.11110	0.299490571022	0.10324	T	0.004394	0.03798	T	-0.727601	0.00025	T	-0.816971	0.01514	T	0.041492736840577	0.03961	T	0.720728	0.33361	T	0.029086264	0.02347	0.04209941	0.04935	0.029086264	0.02346	0.04209941	0.04935	-3.655	0.18656	T	.	.	0.181	0.39442	B	.;.	.;.	-0.032296	0.04066	0.945	0.61490145670609297	0.06722	0.00126	0.00785	N	AEFBI	0.023150	0.01251	N	-0.592595103882097	0.19168	1.001098	-0.92303017783393	0.11551	0.5891608	4.4305189627458E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	1.9	-2.78	0.05512	-0.944000	0.04022	.	.	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4016:0.2459:0.3525:0.0	2.803	0.05087	922	0.19044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.010101	0.002717	0.005848	0.000000	0.025862	0.018293	0.007576	0.05	1661.43	33	chr19	56191902	.	G	A	1661.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.536;DP=490;ExcessHet=0;FS=2.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-1.685;SOR=0.861	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr19	56442142	56442142	T	C	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon5:c.A853G:p.K285E,ZNF667:NM_001321355:exon6:c.A682G:p.K228E,ZNF667:NM_001321356:exon7:c.A853G:p.K285E	.	428	1079	15	0	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	0.0007	0.00179712	0.0018	0	0.0010	0	0.0005	0.0011	0.0044	0.0073	0.0016429	254	154602	rs61740676	0.0011	0.0011	0.0009	0.0014	0.0075	0.0011	0.0011	0.0070	0.0068	0.0001	0.0007	0.0003	0	0.0002	0.0047	0.0008	0.0014	0.0075	0.0009	0.0009	0.0009	0.0009	0.0075	0.0008	0.0007	0.0055	0.0049	0.0002	0	0.0013	0	0	0	0	0.0010	0.0009	0.0075	0.821	0.02951	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.208724	0.03371	N	1.674900	1	0.08975	N	-0.04	0.05001	N	1.74	0.26301	T	1.02	0.01369	N	0.18	0.19459	-0.9517	0.40678	T	0.022	0.09467	T	10	0.0065746307	0.00149	T	.	.	.	0.013	0.01715	.	.	0.15556083564	0.15200	0.10657271369223385	0.10587	0.151848470416	0.17138	0.219145566225	0.01261	T	3.55E-4	0.01432	T	-0.65079	0.00072	T	-0.703306	0.05647	T	0.0184695826267453	0.00563	T	0.0211645	0.00700	T	0.038967323	0.05292	0.04279775	0.05179	0.038967323	0.05291	0.04279775	0.05179	-4.344	0.28789	T	.	.	0.149	0.33039	B	.;.;.	.;.;.	-0.155148	0.03328	0.582	0.17765566777017688	0.00531	0.06742	0.12763	N	AEBCI	0.068570	0.13532	N	-1.80583441221974	0.00531	0.02286186	-1.83561495927138	0.00652	0.0289824	0.00498625705129191	0.10786	0.475973	0.10046	0	0.573888	0.26702	0	0.670488	0.60580	0	0.564101	0.26826	0	.	.	5.05	-6.97	0.01459	-2.666000	0.00919	.	.	-0.417000	0.05242	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.5388:0.2417:0.2195	10.418	0.43521	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.008152	0.000000	0.050000	0.000000	0.006098	0.000000	0.05	1450.43	34	chr19	56442142	.	T	C	1450.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=487;ExcessHet=0;FS=2.759;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.43;ReadPosRankSum=0.568;SOR=0.431	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1462,0,900	9	0	1	0
chr19	56814194	56814194	-	GCAGCCTCCACTTCTGGCTCAGCAGCCTCCACTTCTGGCTCG	exonic	PEG3	.	nonframeshift insertion	PEG3:NM_001369735:exon8:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369736:exon8:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001146184:exon9:c.4247_4248insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1418_N1419insEVEAAEPEVEAAEP,PEG3:NM_001146185:exon9:c.3869_3870insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1292_N1293insEVEAAEPEVEAAEP,PEG3:NM_001146187:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369717:exon9:c.4253_4254insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1420_N1421insEVEAAEPEVEAAEP,PEG3:NM_001369719:exon9:c.4160_4161insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1389_N1390insEVEAAEPEVEAAEP,PEG3:NM_001369721:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369725:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369733:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369734:exon9:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369737:exon9:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369718:exon10:c.4253_4254insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1420_N1421insEVEAAEPEVEAAEP,PEG3:NM_001369722:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369727:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369729:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369730:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369732:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369738:exon10:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369739:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_006210:exon10:c.4247_4248insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1418_N1419insEVEAAEPEVEAAEP,PEG3:NM_001369723:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369726:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369728:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369731:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369720:exon12:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369724:exon12:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.85e-07	1.363e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1321.39	35	chr19	56814194	.	A	AGCAGCCTCCACTTCTGGCTCAGCAGCCTCCACTTCTGGCTCG	1321.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.07;DP=492;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=-3.66;SOR=0.594	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr19	56821692	56821692	C	T	exonic	PEG3;ZIM2	.	nonsynonymous SNV	PEG3:NM_001146184:exon6:c.G628A:p.E210K,PEG3:NM_001146185:exon6:c.G250A:p.E84K,PEG3:NM_001146187:exon6:c.G253A:p.E85K,PEG3:NM_001369717:exon6:c.G631A:p.E211K,PEG3:NM_001369721:exon6:c.G253A:p.E85K,PEG3:NM_001369725:exon6:c.G253A:p.E85K,PEG3:NM_001369733:exon6:c.G253A:p.E85K,PEG3:NM_001369735:exon6:c.G253A:p.E85K,PEG3:NM_001369736:exon6:c.G253A:p.E85K,ZIM2:NM_001369772:exon6:c.G253A:p.E85K,ZIM2:NM_001369773:exon6:c.G253A:p.E85K,ZIM2:NM_001369774:exon6:c.G253A:p.E85K,ZIM2:NM_015363:exon6:c.G253A:p.E85K,ZIM2:NM_001146326:exon7:c.G253A:p.E85K,ZIM2:NM_001146327:exon7:c.G253A:p.E85K,PEG3:NM_001369718:exon7:c.G631A:p.E211K,PEG3:NM_001369719:exon7:c.G631A:p.E211K,PEG3:NM_001369722:exon7:c.G253A:p.E85K,PEG3:NM_001369727:exon7:c.G253A:p.E85K,PEG3:NM_001369729:exon7:c.G253A:p.E85K,PEG3:NM_001369730:exon7:c.G253A:p.E85K,PEG3:NM_001369732:exon7:c.G253A:p.E85K,PEG3:NM_001369734:exon7:c.G253A:p.E85K,PEG3:NM_001369737:exon7:c.G253A:p.E85K,PEG3:NM_001369739:exon7:c.G253A:p.E85K,ZIM2:NM_001369770:exon7:c.G253A:p.E85K,ZIM2:NM_001369771:exon7:c.G253A:p.E85K,PEG3:NM_006210:exon7:c.G628A:p.E210K,PEG3:NM_001369723:exon8:c.G253A:p.E85K,PEG3:NM_001369726:exon8:c.G253A:p.E85K,PEG3:NM_001369728:exon8:c.G253A:p.E85K,PEG3:NM_001369731:exon8:c.G253A:p.E85K,PEG3:NM_001369738:exon8:c.G253A:p.E85K,PEG3:NM_001369720:exon9:c.G253A:p.E85K,PEG3:NM_001369724:exon9:c.G253A:p.E85K	.	422	1070	30	0	0	30	0.0138249	.	.	.	716715	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.033	.	0.0036	0.00459265	0.0060	0.0006	0.0050	0	0.0002	0.0048	0.0099	0.0197	0.0056015	866	154602	rs142391687	0.0058	0.0058	0.0055	0.0062	0.0192	0.0057	0.0057	0.0184	0.0181	0.0007	0.0034	0.0208	2.519e-05	0.0004	0.0081	0.0051	0.0064	0.0192	0.0039	0.0039	0.0037	0.0040	0.0185	0.0036	0.0035	0.0154	0.0142	0.0011	0.0264	0.0020	0.0213	0	0.0003	0.0102	0.0046	0.0047	0.0185	0.084	0.32929	T	0.007	0.69154	D	0.079	0.24468	B	0.025	0.20508	B	0.550415	0.11442	N	0.742182	.	.	.	0.895	0.22405	L	3.45	0.05311	T	-0.59	0.17624	N	0.215	0.25130	-1.0752	0.08307	T	0.014	0.05608	T	9	0.002678901	0.00041	T	.	.	.	0.033	0.08068	.	.	0.0401082797425	0.02173	0.008895647590194285	0.00852	0.0596439142696	0.06633	0.365860044956	0.20237	T	0.047046	0.47669	T	-0.627072	0.00100	T	-0.658585	0.08362	T	0.00955369215377232	0.00124	T	0.583442	0.22516	T	0.09814445	0.25510	0.1896965	0.42330	0.09814445	0.25509	0.1896965	0.42329	-4.273	0.27797	T	.	.	0.149	0.43018	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.999244	0.25404	16.75	0.99768227467087223	0.85666	0.30846	0.24187	N	AEFBHCI	0.122367	0.23747	N	-0.611517876920625	0.18597	0.966803	-0.576384793105431	0.20109	1.081964	0.847041824562309	0.24973	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	1.214000	0.32023	.	.	0.599000	0.40250	0.002000	0.15269	0.285000	0.24131	0.642000	0.32476	0.0:1.0:0.0:0.0	10.967	0.46629	975	0.05339	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007772	0.005051	0.004076	0.003497	0.000000	0.017241	0.006098	0.015152	0.05	1254.43	34	chr19	56821692	.	C	T	1254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.976;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=0.047;SOR=0.629	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	9	0	1	0
chr19	57131045	57131045	C	A	exonic	USP29	.	nonsynonymous SNV	USP29:NM_020903:exon4:c.C2370A:p.D790E	.	428	1050	44	0	0	44	0.0205224	.	.	.	2815428	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	.	0.0052	0.00459265	0.0059	0.0012	0.0032	0	0.0009	0.0077	0.0056	0.0089	0.0059443	919	154602	rs35394887	0.0070	0.0070	0.0069	0.0071	0.0196	0.0069	0.0068	0.0167	0.0156	0.0013	0.0041	0.0155	2.519e-05	0.0012	0.0196	0.0073	0.0076	0.0096	0.0052	0.0052	0.0055	0.0048	0.0081	0.0049	0.0047	0.0064	0.0062	0.0011	0.0451	0.0068	0.0147	0	0.0009	0.0170	0.0069	0.0085	0.0081	0.089	0.32141	T	0.199	0.27679	T	0.897	0.49385	P	0.498	0.47596	P	.	.	.	.	1	0.08975	N	1.75	0.45442	L	-0.7	0.72785	T	-0.66	0.19085	N	0.017	0.00445	-0.8132	0.54356	T	0.203	0.56045	T	9	0.0063093305	0.00142	T	.	.	.	0.209	0.49871	0.439	0.49321	0.643592481467	0.64065	0.025657874678243223	0.02516	0.163922921691	0.18491	0.342741340399	0.16848	T	0.031903	0.22250	T	-0.587765	0.00173	T	-0.610946	0.11908	T	0.0112532268028135	0.00166	T	0.258674	0.04115	T	0.046043307	0.07641	0.04808295	0.07066	0.046043307	0.07640	0.04808295	0.07066	-2.455	0.05481	T	.	.	0.114	0.22789	B	.;.	.;.	0.128065	0.05241	1.746	0.93809292540599365	0.23783	0.08314	0.14259	N	AEFBI	0.039674	0.05796	N	-0.670287111582421	0.16871	0.8634115	-0.888872341669777	0.12356	0.6351659	2.36954909793107E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.05	-1.45	0.08365	-1.450000	0.02496	.	.	-0.218000	0.08083	0.029000	0.20367	0.000000	0.08366	0.068000	0.16518	0.0:0.5297:0.0:0.4703	5.801	0.17677	952	0.10565	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.016113	0.005051	0.017663	0.040936	0.000000	0.025862	0.012195	0.000000	0.1	2787.14	98	chr19	57131045	.	C	A	2787.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.46;DP=895;ExcessHet=0.2348;FS=10.788;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.173;SOR=1.11	GT:AD:DP:GQ:PL	0/0:65,0:65:99:0,120,1800	8	0	2	0
chr19	57377431	57377431	C	T	exonic	ZNF547	.	nonsynonymous SNV	ZNF547:NM_173631:exon4:c.C455T:p.A152V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00250871906923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.169	0.30534	T	0.816	0.45573	P	0.132	0.33005	B	.	.	.	.	1	0.08975	N	1.125	0.28843	L	3.44	0.05375	T	-2.0	0.46146	N	0.131	0.12627	-0.9336	0.43605	T	0.009	0.03011	T	9	0.15458286	0.29155	T	0.002509	0.05009	T	0.018	0.03083	0.481	0.56142	0.1749357433	0.17121	0.016327682095559248	0.01588	0.166988957348	0.18835	0.250086665154	0.03776	T	0.059449	0.31119	T	-0.285829	0.10059	T	-0.64835	0.09069	T	0.133351516947101	0.15688	T	0.0089991	0.00043	T	0.053352192	0.10085	0.05442464	0.09358	0.053352192	0.10084	0.05442464	0.09357	-5.374	0.40669	T	.	.	0.110	0.21353	B	.	.	0.199072	0.05841	2.282	0.98494759323159364	0.42144	0.06981	0.13008	N	AEFBHCI	0.030530	0.03092	N	-0.928881611729613	0.10171	0.4847664	-1.02069474484393	0.09330	0.4635948	8.93155213940687E-5	0.04703	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	2.09	0.999	0.18981	-0.717000	0.05088	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.5882:0.4118:0.0	9.566	0.38561	690	0.58899	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2459.43	34	chr19	57377431	.	C	T	2459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.206;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-0.179;SOR=0.696	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1088	9	0	1	0
chr19	57455498	57455498	G	C	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.C989G:p.T330S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00185719441718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.126	0.26920	B	0.044	0.24394	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	3.01	0.09075	T	-1.57	0.37955	N	0.037	0.01135	-0.9435	0.42057	T	0.010	0.03811	T	9	0.037141323	0.02051	T	0.001857	0.03245	T	0.019	0.03383	0.356	0.35734	0.119812018005	0.11559	0.027788584214544124	0.02728	0.0564297188094	0.06233	0.520052194595	0.41634	T	0.006109	0.05549	T	-0.424798	0.01595	T	-0.84797	0.00986	T	0.0496394987449854	0.05437	T	0.348865	0.07732	T	0.08155163	0.18743	0.05191539	0.08450	0.08155163	0.18743	0.05191539	0.08450	-2.721	0.07481	T	.	.	0.112	0.22098	B	.	.	-0.039583	0.04016	0.919	0.15813665621730297	0.00401	0.01566	0.05117	N	AEFBI	0.033459	0.03972	N	-1.54661842337973	0.01554	0.06790209	-1.61617004726267	0.01560	0.07070299	2.30622176197677E-4	0.06048	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.07	-5.31	0.02519	-0.189000	0.09625	.	.	-0.170000	0.11276	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0803:0.3901:0.2843:0.2453	4.032	0.09199	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	60.5	33	chr19	57455498	.	G	C	60.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.671;DP=768;ExcessHet=0;FS=263.647;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=2.77;SOR=8.318	GT:AD:DP:GQ:PL	0/0:81,0:81:27:0,27,1618	9	0	1	0
chr19	57474334	57474334	C	A	exonic	ZNF772	.	nonsynonymous SNV	ZNF772:NM_001330613:exon3:c.G74T:p.G25V,ZNF772:NM_001144068:exon4:c.G287T:p.G96V,ZNF772:NM_001024596:exon5:c.G410T:p.G137V	.	428	1064	29	1	0	31	0.0143585	.	.	.	2815433	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	.	0.0065	0.00179712	0.0052	0.0012	0.0042	0	0.0005	0.0080	0.0121	0.0016	0.0051552	797	154602	rs149559142	0.0056	0.0056	0.0056	0.0057	0.0479	0.0055	0.0055	0.0432	0.0414	0.0016	0.0052	0.0325	0	0.0002	0.0479	0.0056	0.0078	0.0018	0.0049	0.0049	0.0051	0.0047	0.0066	0.0046	0.0045	0.0061	0.0059	0.0013	0	0.0061	0.0314	0	0.0004	0.0442	0.0066	0.0090	0.0017	0.082	0.42783	T	0.1	0.43913	T	0.015	0.17086	B	0.006	0.12133	B	.	.	.	.	0.999999	0.08975	N	0.91	0.23283	L	3.4	0.06445	T	-2.55	0.75297	D	0.075	0.07535	-0.9246	0.44915	T	0.007	0.02282	T	9	0.003584683	0.00065	T	.	.	.	0.014	0.01968	.	.	0.242825505644	0.23883	0.06286079249604214	0.06225	0.265364884536	0.29093	0.231391102076	0.02073	T	0.082708	0.36889	T	-0.692122	0.00041	T	-0.762956	0.03008	T	0.00628874385665996	0.00070	T	0.00682563	0.00163	T	0.053275492	0.10058	0.0621461	0.12114	0.053275492	0.10058	0.0621461	0.12114	-4.803	0.41388	T	.	.	0.086	0.16538	B	.;.;.	.;.;.	-0.622206	0.01512	0.096	0.38261841953168846	0.02570	0.08835	0.14704	N	AEFBCI	0.082553	0.16716	N	-1.8198645664141	0.00498	0.02145112	-1.91443553567497	0.00458	0.02028973	0.999532729199548	0.40238	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.99	-7.18	0.01354	-1.430000	0.02541	.	.	-1.832000	0.00589	0.000000	0.06391	.	.	0.000000	0.00833	0.3455:0.2572:0.1076:0.2898	0.653	0.00777	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.034778	0.020202	0.046196	0.064706	0.050000	0.025862	0.015244	0.003788	0.05	1308.43	37	chr19	57474334	.	C	A	1308.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.267;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=0.582;SOR=0.66	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr19	57504659	57504659	G	T	exonic;splicing	ZNF773;ZNF773	NM_001304336:exon2:c.34-1G>T;NM_001304334:exon2:c.34-1G>T;NM_001304335:exon2:c.34-1G>T;NM_001304337:exon2:c.34-1G>T	nonsynonymous SNV	ZNF773:NM_198542:exon2:c.G36T:p.Q12H	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00338598078491	0.0020	0.000199681	0.0022	0.0003	0.0005	0	0.0003	0.0037	0.0011	0.0004	0.0019857	307	154602	rs139350568	0.0018	0.0018	0.0017	0.0019	0.0066	0.0017	0.0017	0.0049	0.0044	0.0004	0.0008	0.0341	0	0.0005	0.0066	0.0012	0.0034	0.0006	0.0015	0.0015	0.0017	0.0012	0.0014	0.0013	0.0013	0.0011	0.0010	0.0002	0	0.0005	0.0297	0	0.0003	0.0034	0.0014	0.0024	0.0006	0.002	0.72154	D	0.024	0.74150	D	0.412	0.35138	B	0.259	0.39405	B	.	.	.	.	0.999673	0.20721	N	3.08	0.87267	M	5.39	0.01025	T	-1.28	0.32185	N	0.353	0.54932	-1.0118	0.26353	T	0.008	0.02679	T	9	0.0077340305	0.00176	T	0.003386	0.07572	T	0.143	0.38195	0.485	0.56780	0.518531843619	0.51497	0.240037117895451	0.23917	0.115565582649	0.13036	0.578223586082	0.49835	T	0.072953	0.34579	T	-0.480532	0.00734	T	-0.482042	0.24230	T	0.0766035314277966	0.09547	T	0.0480952	0.00344	T	0.14792615	0.33794	0.1702864	0.39127	0.14792615	0.33794	0.1702864	0.39126	-7.516	0.57723	D	.	.	0.26	0.49470	B	.;.	.;.	3.854529	0.55855	23.7	0.97995320386553897	0.37431	0.88205	0.48030	D	AEFGBI	0.322502	0.42497	N	-0.218345725223112	0.32381	1.825563	-0.33855104907062	0.26866	1.486759	0.190774963267218	0.17997	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	1.39	1.39	0.21325	4.644000	0.61092	.	.	0.504000	0.22967	0.999000	0.42656	0.999000	0.35428	0.029000	0.12982	0.0:0.0:1.0:0.0	8.707	0.33522	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006042	0.000000	0.005435	0.005848	0.000000	0.008621	0.006098	0.011364	0.05	1852.43	38	chr19	57504659	.	G	T	1852.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.773;DP=563;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.96;MQRankSum=0.035;QD=11.36;ReadPosRankSum=0.126;SOR=0.724	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr19	57573220	57573220	G	C	exonic	ZNF416	.	nonsynonymous SNV	ZNF416:NM_001353405:exon3:c.C468G:p.H156Q,ZNF416:NM_017879:exon4:c.C684G:p.H228Q	.	426	1064	32	0	0	32	0.0148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	0.0058	0.00439297	0.0060	0.0012	0.0021	0	0.0095	0.0073	0.0066	0.0085	0.0058667	907	154602	rs145794172	0.0074	0.0074	0.0073	0.0074	0.0106	0.0073	0.0072	0.0085	0.0079	0.0007	0.0035	0.0028	2.519e-05	0.0091	0.0106	0.0078	0.0090	0.0086	0.0059	0.0059	0.0059	0.0059	0.0083	0.0055	0.0054	0.0075	0.0073	0.0013	0.0055	0.0076	0.0012	0	0.0097	0.0068	0.0081	0.0090	0.0083	0.165	0.23271	T	0.132	0.34477	T	0.035	0.20614	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.785	0.19527	N	3.24	0.06845	T	-4.87	0.81269	D	0.061	0.03283	-0.9943	0.31485	T	0.008	0.02968	T	9	0.004246503	0.00085	T	.	.	.	0.007	0.00512	0.294	0.25720	0.0482279557977	0.04254	0.01641161655061311	0.01597	0.237101060126	0.26249	0.245162144303	0.03276	T	0.219429	0.58244	T	-0.685344	0.00045	T	-0.74783	0.03571	T	0.0223640182416722	0.00950	T	0.0281972	0.00174	T	0.06999825	0.15382	0.13588358	0.32522	0.06999825	0.15382	0.13588358	0.32521	-2.779	0.07991	T	.	.	0.108	0.20508	B	.	.	-1.202347	0.00528	0.012	0.34883764537529655	0.02159	0.02714	0.07370	N	AEFBHCI	0.028361	0.02483	N	-2.06612509115374	0.00152	0.00650423	-2.18827142712601	0.00119	0.00522519	0.999545044357143	0.40300	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.55	-7.09	0.01399	-2.087000	0.01447	.	.	-1.485000	0.01053	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1783:0.2491:0.4888:0.0837	4.009	0.09103	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009063	0.000000	0.009511	0.002924	0.000000	0.008621	0.015244	0.015152	0.05	2398.43	35	chr19	57573220	.	G	C	2398.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.305;DP=542;ExcessHet=0;FS=3.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.718;SOR=0.959	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr19	57702381	57702381	C	A	exonic	ZNF154	.	stopgain	ZNF154:NM_001085384:exon3:c.G568T:p.E190X	.	419	1100	2	1	0	4	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0012	0	0	0	0	2.997e-05	0	0.0090	0.0011255	174	154602	rs544751825	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	2.238e-05	0	0	0	0.0005	9.902e-06	0.0008	0.0075	0.0003	0.0003	0.0002	0.0006	0.0106	0.0003	0.0002	0.0083	0.0074	0	0	0	0	0	0	0	2.94e-05	0	0.0106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.033	0.00882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00520038	0.50936	T	0.225868	0.84469	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.835431	0.93756	33	0.99234664489689184	0.56342	0.03468	0.08623	N	AEFDGBI	0.033577	0.04009	N	-0.0838766128490845	0.38098	2.226296	-0.482090163027226	0.22646	1.231126	4.03404832875359E-4	0.06860	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	2.6	0.444	0.15803	-3.811000	0.00405	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2476:0.458:0.0:0.2944	2.249	0.03793	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1831.43	37	chr19	57702381	.	C	A	1831.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=602;ExcessHet=0;FS=3.068;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.812;SOR=0.46	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	9	0	1	0
chr19	57702458	57702458	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G491A:p.S164N	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	0.0073	0.00439297	0.0066	0.0013	0.0025	0.0122	0.0150	0.0079	0.0066	0.0010	0.0064165	992	154602	rs61738876	0.0091	0.0091	0.0093	0.0088	0.0104	0.0089	0.0089	0.0102	0.0101	0.0015	0.0027	0.0010	0.0091	0.0124	0.0002	0.0104	0.0063	0.0013	0.0065	0.0065	0.0065	0.0065	0.0114	0.0062	0.0060	0.0092	0.0090	0.0014	0	0.0026	0.0012	0.0114	0.0136	0	0.0099	0.0038	0.0014	0.14	0.25664	T	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	3.71	0.04046	T	-0.75	0.21003	N	0.09	0.06854	-0.9203	0.45513	T	0.003	0.00994	T	9	0.004165828	0.00082	T	.	.	.	0.040	0.10527	.	.	0.0986583533028	0.09354	0.03319861772966154	0.03267	0.086980305371	0.09809	0.242131650448	0.02985	T	0.005791	0.05238	T	-0.787549	0.00010	T	-0.891712	0.00563	T	0.00463790540218513	0.00050	T	.	.	.	0.14616975	0.33473	0.10676776	0.25691	0.14616975	0.33473	0.10676776	0.25690	-5.569	0.42508	T	.	.	0.158	0.34970	B	.	.	-0.437667	0.02075	0.192	0.86377061022671786	0.16495	0.01518	0.05011	N	AEFBI	0.025335	0.01718	N	-1.2493264316387	0.04309	0.194205	-1.23585155959919	0.05344	0.254384	1.03873629729759E-4	0.05123	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	3.03	-0.407	0.11768	-5.338000	0.00155	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.4907:0.233:0.2763	3.104	0.05954	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs61738876	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	4811.14	37	chr19	57702458	.	C	T	4811.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.65;DP=807;ExcessHet=0.2348;FS=1.738;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.701;SOR=0.856	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	8	0	2	0
chr19	57808794	57808794	G	A	exonic	ZNF552	.	nonsynonymous SNV	ZNF552:NM_024762:exon3:c.C470T:p.A157V	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00090596807728	.	0.000399361	8.236e-05	0.0002	8.637e-05	0	0	8.99e-05	0	6.056e-05	0.0001537	4	26028	rs576029108	8.421e-05	0.0002	7.084e-05	9.771e-05	0.0019	7.209e-05	6.755e-05	0.0011	0.0008	0.0004	4.473e-05	0	0.0001	3.75e-05	0.0019	5.58e-05	0.0002	0.0001	0.0003	0.0020	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0003	0	0	9.61e-05	0.0034	0.0002	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.17	0.04298	N	3.71	0.04046	T	2.84	0.00165	N	0.044	0.01658	-0.9175	0.45891	T	0.005	0.01688	T	9	0.017190516	0.00366	T	9.06E-4	0.00844	T	0.018	0.03083	.	.	0.248417906384	0.24464	0.031522407414787665	0.03101	0.557334318704	0.52354	0.230389162898	0.01997	T	0.008331	0.07654	T	-0.405658	0.02125	T	-0.820476	0.01443	T	0.00920337763139408	0.00116	T	0.186781	0.01946	T	0.019427126	0.00472	0.031151643	0.01664	0.019427126	0.00472	0.031151643	0.01664	0.26	0.00269	T	.	.	0.110	0.21239	B	.	.	-0.155911	0.03322	0.580	0.18782001308032792	0.00605	0.00096	0.00628	N	AEFBI	0.009771	0.00061	N	-1.78118286330107	0.00593	0.02554289	-1.7870117084999	0.00802	0.03578075	0.0912039099692399	0.16128	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.96	-0.803	0.10336	0.125000	0.15577	.	.	-0.227000	0.07798	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.6156:0.0:0.163:0.2214	2.784	0.05039	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4362.43	34	chr19	57808794	.	G	A	4362.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.81;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=53.29;MQRankSum=-4.701;QD=9.91;ReadPosRankSum=-1.376;SOR=0.657	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1327	9	0	1	0
chr19	57916383	57916383	G	C	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon1:c.C29G:p.T10S,ZNF417:NM_152475:exon1:c.C29G:p.T10S	.	424	1091	7	0	0	7	0.00319781	.	.	.	705299	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0070	0.00479233	0.0072	0.0020	0.0017	0.0177	0.0155	0.0080	0.0089	0.0019	0.007115	1100	154602	rs146519620	0.0089	0.0089	0.0092	0.0087	0.0110	0.0088	0.0087	0.0102	0.0098	0.0018	0.0017	0.0009	0.0110	0.0125	0.0019	0.0100	0.0072	0.0027	0.0068	0.0068	0.0067	0.0069	0.0166	0.0065	0.0063	0.0138	0.0127	0.0020	0	0.0020	0.0012	0.0166	0.0134	0	0.0096	0.0047	0.0056	0.637	0.05046	T	0.932	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19694	N	-1.33	0.00679	N	3.41	0.05574	T	0.29	0.04161	N	0.141	0.14054	-0.9145	0.46285	T	0.003	0.01092	T	9	0.0040403306	0.00079	T	.	.	.	0.012	0.01476	0.163	0.06730	0.221734844693	0.21761	0.04225834719548614	0.04170	.	.	0.465177088976	0.34019	T	0.001322	0.02166	T	-0.703322	0.00035	T	-0.767454	0.02853	T	0.00642501536434136	0.00071	T	0.00833667	0.00038	T	0.059754975	0.12180	0.05152348	0.08307	0.059754975	0.12180	0.05152348	0.08307	-2.413	0.05213	T	.	.	0.081	0.20313	B	.;.	.;.	0.411567	0.07823	4.518	0.22904005190390489	0.00943	0.01326	0.04577	N	ALL	0.041021	0.06181	N	-1.38757939138697	0.02753	0.1220436	-1.4236380656846	0.03017	0.1399422	0.999856282716645	0.44174	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	1.93	-0.389	0.11835	1.056000	0.30089	.	.	0.597000	0.34315	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.181:0.2821:0.5369:0.0	3.18	0.06188	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.1	2852.14	36	chr19	57916383	.	G	C	2852.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.2;DP=559;ExcessHet=0.2348;FS=1.465;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.87;MQRankSum=-1.791;QD=10.45;ReadPosRankSum=0.161;SOR=0.815	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1054	8	0	2	0
chr19	57972498	57972498	G	T	exonic	C19orf18	.	nonsynonymous SNV	C19orf18:NM_152474:exon3:c.C233A:p.S78Y	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.0133405295004	.	.	8.252e-06	0	0	0	0	0	0	6.082e-05	6.5e-06	1	154602	rs758741294	1.368e-06	1.368e-06	0	2.75e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.104	0.38160	T	0.852	0.47012	P	0.211	0.37346	B	.	.	.	.	1	0.08975	N	1.5	0.37844	L	0.18	0.60361	T	-1.44	0.35399	N	0.163	0.17140	-1.0270	0.21429	T	0.072	0.29355	T	9	0.12094131	0.22917	T	0.013341	0.32667	T	0.138	0.37187	0.265	0.21103	0.0297737177859	0.01360	0.07795182192576185	0.07731	0.369485843614	0.38475	.	.	.	0.022864	0.17556	T	-0.333969	0.05816	T	-0.535972	0.18694	T	0.113625757396221	0.13795	T	0.380662	0.09189	T	0.04793263	0.08274	0.04748329	0.06847	0.04793263	0.08274	0.04748329	0.06847	-5.669	0.43417	T	.	.	0.119	0.24329	B	.	.	0.641967	0.10104	6.851	0.91771427402881767	0.21074	0.01313	0.04547	N	AEFBI	0.041047	0.06187	N	-1.23389690616436	0.04516	0.203992	-1.45877111708427	0.02692	0.1242668	0.159036127419817	0.17563	0.615465	0.37627	0	0.588066	0.40923	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	3.04	-6.08	0.01969	-1.121000	0.03381	.	.	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.308:0.3838:0.1792:0.1291	1.899	0.03066	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	700.43	33	chr19	57972498	.	G	T	700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.02;DP=377;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.488;SOR=0.926	GT:AD:DP:GQ:PL	0/1:27,30:57:99:712,0,654	9	0	1	0
chr19	57999867	57999867	C	T	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348022:exon4:c.G118A:p.V40M,ZNF606:NM_025027:exon4:c.G118A:p.V40M	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00439297	0.0030	0.0003	0.0015	0	0.0011	0.0019	0.0078	0.0122	0.0030207	467	154602	rs139131343	0.0033	0.0033	0.0030	0.0036	0.0122	0.0032	0.0032	0.0116	0.0114	0.0005	0.0021	0.0003	0	0.0007	0.0061	0.0030	0.0031	0.0122	0.0024	0.0023	0.0021	0.0026	0.0124	0.0021	0.0021	0.0099	0.0090	0.0004	0	0.0046	0.0003	0	0.0006	0.0068	0.0029	0.0033	0.0124	0.358	0.14894	T	0.136	0.34009	T	0.001	0.07471	B	0.001	0.04355	B	0.496443	0.05066	N	1.397780	1	0.08975	N	-0.345	0.03330	N	3.28	0.06523	T	-0.02	0.07299	N	0.154	0.15888	-0.9227	0.45182	T	0.008	0.02842	T	10	0.0033984184	0.00059	T	.	.	.	0.009	0.00846	.	.	0.101711395817	0.09552	0.0532256403551682	0.05264	0.187770376275	0.21096	0.31148403883	0.12130	T	0.013822	0.11884	T	-0.683172	0.00046	T	-0.743718	0.03736	T	0.00987046295893953	0.00131	T	0.150485	0.11714	T	0.013685049	0.00066	0.027382242	0.00887	0.013685049	0.00066	0.027382242	0.00887	-3.616	0.18088	T	.	.	0.089	0.36134	B	.;.;.;.	.;.;.;.	-0.392850	0.02240	0.228	0.67414471268308063	0.08347	0.02725	0.07389	N	AEFDBCI	0.029107	0.02687	N	-1.57734524046376	0.01381	0.06021506	-1.64153807407759	0.01420	0.06421428	0.998019947658434	0.36314	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	3.55	-5.24	0.02576	-1.692000	0.02019	.	.	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.148:0.2494:0.0:0.6026	5.819	0.17774	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007553	0.000000	0.006793	0.011696	0.000000	0.000000	0.009146	0.018939	0.05	593.43	39	chr19	57999867	.	C	T	593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.517;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=2.05;SOR=0.6	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,986	9	0	1	0
chr19	58212452	58212452	A	G	exonic	ZNF274	.	nonsynonymous SNV	ZNF274:NM_016324:exon5:c.A956G:p.N319S,ZNF274:NM_016325:exon7:c.A1175G:p.N392S,ZNF274:NM_001278734:exon8:c.A1145G:p.N382S,ZNF274:NM_133502:exon8:c.A1271G:p.N424S	.	426	1078	16	0	2	18	0.00736648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00918949002761	0.0010	0.000998403	0.0010	0.0002	0.0008	0	0	0.0012	0.0011	0.0016	0.0009444	146	154602	rs190213013	0.0014	0.0014	0.0013	0.0014	0.0068	0.0013	0.0013	0.0051	0.0045	0.0003	0.0009	0	0	1.876e-05	0.0068	0.0015	0.0018	0.0016	0.0010	0.0010	0.0011	0.0009	0.0015	0.0009	0.0008	0.0013	0.0012	0.0002	0.0220	0.0009	0	0	0	0	0.0015	0.0009	0.0015	.	.	.	1.0	0.01155	T	0.473	0.36591	P	0.088	0.29688	B	0.274199	0.03791	N	1.646620	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.011	0.00445	-1.0017	0.29430	T	0.008	0.02760	T	8	0.004541546	0.00094	T	0.009189	0.24154	T	0.024	0.04979	.	.	0.207176502487	0.20327	0.042041687510274914	0.04149	0.235332845833	0.26065	0.206556916237	0.00673	T	0.026574	0.19638	T	-0.675816	0.00051	T	-0.75677	0.03230	T	0.0034575339530296	0.00036	T	0.463454	0.13490	T	0.033697676	0.03639	0.04140205	0.04698	0.033697676	0.03638	0.04140205	0.04697	-5.31	0.43228	T	.	.	0.103	0.35288	B	.;.;.;.;.	.;.;.;.;.	-0.826013	0.01057	0.046	0.22980009723723005	0.00950	0.00068	0.00484	N	AEFDBHCI	0.031618	0.03417	N	-1.72447613793533	0.00758	0.03275647	-1.87319309313305	0.00552	0.02450146	0.176455474352768	0.17811	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	0.235	-0.47	0.11525	-0.130000	0.10477	-0.833000	0.07248	-0.462000	0.05112	0.000000	0.06391	0.009000	0.19889	0.031000	0.13245	.	.	.	964	0.07719	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.005051	0.004076	0.000000	0.000000	0.017241	0.003049	0.000000	0.1	3422.14	39	chr19	58212452	.	A	G	3422.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.44;DP=633;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.899;SOR=0.678	GT:AD:DP:GQ:PL	0/1:103,59:162:99:1397,0,2556	8	0	2	0
chr19	58352307	58352307	C	T	exonic	A1BG	.	nonsynonymous SNV	A1BG:NM_130786:exon4:c.G589A:p.A197T	.	421	1098	3	0	0	3	0.00136426	.	.	.	4156662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.00431231738522	7.7e-05	.	0.0002	0	0	0	0	0.0003	0.0011	0	0.0001617	25	154602	rs144826779	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0002	0.0001	2.987e-05	0.0001	0	0	0	0.0007	0.0001	0.0003	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0002	0.0001	0.0006	0.0005	0	0	0.0010	0	0	0	0	0.0002	0.0010	0	0.445	0.09128	T	0.134	0.34241	T	0.988	0.62325	D	0.841	0.60228	P	0.517293	0.11780	N	0.730498	1	0.08975	N	2.31	0.66127	M	2.84	0.10674	T	-1.34	0.33401	N	0.08	0.05542	-1.0520	0.13845	T	0.042	0.18160	T	10	0.055089265	0.05967	T	0.004312	0.10467	T	0.016	0.02506	.	.	0.390531646278	0.38663	0.13604056539130271	0.13528	0.440054656448	0.44022	0.535411715508	0.43797	T	0.189101	0.54322	T	-0.582029	0.00187	T	-0.776262	0.02568	T	0.102672815322876	0.12648	T	0.478952	0.15565	T	0.03136811	0.02964	0.042350035	0.05024	0.03136811	0.02964	0.042350035	0.05024	-6.42	0.49665	T	.	.	0.083	0.17953	B	.;.	.;.	0.813613	0.11844	8.414	0.98922388499240144	0.48583	0.05302	0.11149	N	AEFDBCI	0.120631	0.23490	N	-0.556076229741275	0.20294	1.068741	-0.810572058593686	0.14239	0.7430059	0.989332410214383	0.31792	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	3.39	0.00313	0.13375	-0.085000	0.11215	-0.724000	0.07692	-0.835000	0.02838	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2148:0.5455:0.0:0.2397	2.966	0.05548	958	0.09170	Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1713.43	36	chr19	58352307	.	C	T	1713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.07;DP=462;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.28;ReadPosRankSum=-1.396;SOR=0.818	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr19	58471354	58471354	G	A	exonic	ZNF324	.	nonsynonymous SNV	ZNF324:NM_014347:exon4:c.G862A:p.A288T	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00534984152794	.	0.000798722	0.0004	9.891e-05	0.0003	0.0001	0	0.0003	0	0.0013	0.0010373	27	26028	rs551264244	0.0006	0.0011	0.0005	0.0007	0.0047	0.0006	0.0006	0.0033	0.0029	0.0004	0.0013	0.0025	0.0007	9.386e-05	0.0047	0.0003	0.0009	0.0029	0.0013	0.0014	0.0012	0.0014	0.0046	0.0012	0.0011	0.0031	0.0026	0.0007	0	0.0027	0.0037	0.0002	0	0.0102	0.0012	0.0028	0.0046	0.62	0.05309	T	0.614	0.07592	T	0.006	0.13644	B	0.01	0.14941	B	0.099107	0.19949	N	0.367674	1	0.08975	N	-0.57	0.02306	N	3.18	0.07478	T	-0.3	0.11913	N	0.05	0.03175	-0.9615	0.38897	T	0.006	0.02206	T	10	0.0055633485	0.00123	T	0.00535	0.13710	T	0.010	0.01040	.	.	0.0846915920261	0.08053	0.16134223849211798	0.16055	0.649115808177	0.58234	0.559035897255	0.47132	T	0.010764	0.09688	T	-0.720144	0.00028	T	-0.800675	0.01885	T	0.00201486172379058	0.00021	T	0.0159984	0.00089	T	0.04087226	0.05915	0.03931121	0.03994	0.04087226	0.05915	0.03931121	0.03994	-4.856	0.35237	T	.	.	0.073	0.04806	B	.;.	.;.	1.127975	0.15144	11.62	0.95695102627777662	0.27577	0.02760	0.07451	N	AEFGBI	0.055402	0.10157	N	-1.35891339963348	0.03034	0.1348826	-1.29580727690239	0.04487	0.2117628	0.935660705798886	0.27223	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.38	-1.79	0.07504	-2.737000	0.00871	-5.551000	0.01678	-0.197000	0.09056	0.000000	0.06391	0.000000	0.08366	0.977000	0.56843	0.1777:0.151:0.2538:0.4175	1.099	0.01576	911	0.21964	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006135	0.005051	0.006793	0.003205	0.000000	0.034483	0.006098	0.000000	0.05	40.43	42	chr19	58471354	.	G	A	40.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.52;DP=516;ExcessHet=0;FS=27.418;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.6;MQRankSum=-4.42;QD=0.35;ReadPosRankSum=-1.583;SOR=4.804	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,104,1800	9	0	1	0
chr19	58498582	58498582	G	C	exonic	SLC27A5	.	nonsynonymous SNV	SLC27A5:NM_001321196:exon10:c.C1754G:p.A585G,SLC27A5:NM_012254:exon10:c.C2006G:p.A669G	.	424	1054	43	1	0	45	0.0209011	.	.	.	269235	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.022	.	0.0062	0.00439297	0.0072	0.0010	0.0091	0	0.0044	0.0087	0.0125	0.0084	0.0068757	1063	154602	rs145618122	0.0063	0.0063	0.0060	0.0065	0.0225	0.0062	0.0061	0.0194	0.0182	0.0007	0.0087	0.0523	0	0.0033	0.0225	0.0051	0.0102	0.0087	0.0054	0.0054	0.0054	0.0054	0.0102	0.0051	0.0050	0.0079	0.0071	0.0008	0	0.0071	0.0527	0	0.0033	0.0204	0.0057	0.0123	0.0102	0.14	0.25664	T	0.14	0.33554	T	0.004	0.12183	B	0.015	0.17295	B	0.016500	0.27965	N	0.370857	1	0.08975	N	2.18	0.61292	M	-1.05	0.76690	T	-1.7	0.40468	N	0.164	0.26475	-1.0548	0.13093	T	0.055	0.23186	T	10	0.003809452	0.00071	T	.	.	.	0.022	0.04323	.	.	0.657588586956	0.65472	0.27433375528701	0.27346	0.295824562722	0.31980	0.273551166058	0.06608	T	0.132586	0.46276	T	-0.431819	0.01445	T	-0.387364	0.34861	T	0.00934378138432285	0.00119	T	0.680532	0.28920	T	0.11716695	0.27626	0.09850016	0.23484	0.11716695	0.27626	0.09850016	0.23484	-6.486	0.52171	T	.	.	0.093	0.14062	B	.;.;.	.;.;.	1.351631	0.17595	13.26	0.95864334032436205	0.28030	0.07487	0.13503	N	AEFBI	0.283998	0.39697	N	-0.80902216731682	0.13079	0.6418616	-0.788469485847166	0.14778	0.7739335	0.999996703293463	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.685571	0.62057	0	0.651492	0.60203	0	.	.	4.85	2.51	0.29435	0.397000	0.20608	3.576000	0.39140	0.676000	0.76740	0.000000	0.06391	0.982000	0.30508	0.120000	0.19168	0.0:0.0:0.6228:0.3772	9.675	0.39199	866	0.32446	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.035354	0.014946	0.005848	0.050000	0.017241	0.018293	0.011364	0.05	509.43	46	chr19	58498582	.	G	C	509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.946;DP=401;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.08;ReadPosRankSum=-1.596;SOR=0.495	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	9	0	1	0
chr19	58562965	58562965	G	C	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_003422:exon6:c.C1312G:p.Q438E,MZF1:NM_198055:exon6:c.C1312G:p.Q438E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0166526145939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.142e-06	4.104e-06	5.496e-06	2.775e-06	5.401e-06	1.49e-06	9.8e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.401e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.019	0.59159	D	0.779	0.44223	P	0.281	0.40336	B	0.002245	0.36929	N	0.000000	0.649555	0.30545	N	0.015	0.07966	N	2.26	0.17596	T	-0.34	0.12661	N	0.254	0.29544	-1.0967	0.04514	T	0.021	0.09056	T	10	0.123583555	0.23461	T	0.016653	0.38007	T	0.050	0.13987	0.35	0.34760	0.494500980894	0.49084	0.12532299617057827	0.12458	0.351201735041	0.36964	0.770335018635	0.77475	T	0.101142	0.40761	T	-0.24823	0.14316	T	-0.594342	0.13292	T	0.518106730616632	0.33296	D	0.310469	0.06031	T	0.12377291	0.29056	0.14509374	0.34425	0.12377291	0.29056	0.14509374	0.34424	-5.064	0.37526	T	.	.	0.190	0.40794	B	.;.	.;.	3.850363	0.55778	23.7	0.98976759904038047	0.49640	0.61424	0.31480	D	AEFDGBHIJ	0.265472	0.38259	N	-0.109516186035965	0.36977	2.144843	-0.060961733911379	0.37019	2.161979	0.999999982634335	0.74766	0.789315	0.99827	0	0.52208	0.09955	0	0.768056	0.98339	0	0.71	0.69187	0	.	.	3.46	3.46	0.38718	0.186000	0.16787	1.013000	0.23346	0.618000	0.50648	0.000000	0.06391	0.147000	0.23145	0.883000	0.42306	0.0:0.0:0.7648:0.2352	8.336	0.31374	952	0.10565	Zinc finger C2H2-type;Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2360.14	93	chr19	58562965	.	G	C	2360.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.42;DP=456;ExcessHet=0.2348;FS=5.459;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=1.61;SOR=1.094	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1023	8	0	2	0
chr19	58571272	58571272	G	A	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon2:c.C118T:p.P40S,MZF1:NM_003422:exon2:c.C118T:p.P40S,MZF1:NM_198055:exon2:c.C118T:p.P40S	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0005	0.0135783	0.0042	0.0005	9.346e-05	0.0489	0	0.0001	0.0037	0.0046	0.0040232	622	154602	rs11557617	0.0021	0.0021	0.0020	0.0023	0.0592	0.0021	0.0021	0.0572	0.0564	0.0004	8.962e-05	0	0.0592	0	0.0007	9.984e-05	0.0038	0.0048	0.0021	0.0021	0.0019	0.0022	0.0487	0.0019	0.0018	0.0438	0.0419	0.0005	0	0.0003	0	0.0487	0	0	5.881e-05	0.0019	0.0066	0.572	0.06145	T	0.045	0.49390	D	0.084	0.24799	B	0.077	0.28532	B	0.127254	0.18774	N	0.390912	0.941574	0.26776	N	1.65	0.42232	L	3.39	0.05710	T	-0.79	0.21860	N	0.241	0.37093	-1.0082	0.27479	T	0.002	0.00707	T	9	0.003115654	0.00052	T	.	.	.	0.037	0.09474	.	.	0.336155897331	0.33225	0.5333883137293937	0.53263	0.289516481914	0.31364	0.598865032196	0.52744	T	0.101817	0.66410	T	-0.580611	0.00191	T	-0.545935	0.17718	T	0.0121366811207368	0.00193	T	0.430857	0.28201	T	0.14260836	0.32812	0.098404296	0.23460	0.14260836	0.32811	0.098404296	0.23459	-9.705	0.72954	D	.	.	0.171	0.38025	B	.;.;.;.;.	.;.;.;.;.	2.720594	0.35583	19.94	0.99831639199648325	0.91284	0.36670	0.25586	N	AEFDBIJ	0.079327	0.16021	N	-0.449052395559032	0.23772	1.278954	-0.428818191842389	0.24156	1.321211	0.99999991193212	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.35	3.31	0.37025	0.540000	0.22900	5.242000	0.48065	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.994000	0.71098	0.1106:0.0:0.8894:0.0	8.084	0.29922	952	0.10565	.;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;SCAN domain|SCAN domain|SCAN domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.003788	0.05	1467.43	89	chr19	58571272	.	G	A	1467.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=423;ExcessHet=0;FS=2.885;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-1.286;SOR=0.984	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr20	353433	353433	T	C	exonic	NRSN2	.	nonsynonymous SNV	NRSN2:NM_001323680:exon4:c.T413C:p.M138T,NRSN2:NM_001323681:exon4:c.T413C:p.M138T,NRSN2:NM_001323685:exon4:c.T413C:p.M138T,NRSN2:NM_024958:exon4:c.T413C:p.M138T,NRSN2:NM_001323682:exon5:c.T413C:p.M138T,NRSN2:NM_001323683:exon5:c.T413C:p.M138T,NRSN2:NM_001323684:exon5:c.T413C:p.M138T	.	.	.	.	.	.	.	.	.	.	.	3359283	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00253502302236	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917712322	1.231e-05	1.231e-05	1.497e-05	9.626e-06	1.619e-05	7.7e-06	6.35e-06	1.012e-05	8.35e-06	0	0	0	0	0	0	1.619e-05	0	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.262	0.16466	T	0.186	0.47581	T	0.0	0.02946	B	0.0	0.01387	B	0.496762	0.05068	N	1.279960	1	0.08975	N	1.1	0.28011	L	2.33	0.16492	T	-0.5	0.15782	N	0.087	0.07949	-0.9902	0.32551	T	0.040	0.17362	T	10	0.061744004	0.07788	T	0.002535	0.05065	T	0.011	0.01250	0.442	0.49811	0.0551355673512	0.04727	0.30023226502146505	0.29936	0.247549296302	0.27304	0.298125982285	0.10122	T	0.003967	0.11224	T	-0.297139	0.08932	T	-0.64911	0.09016	T	0.017400617876515	0.00478	T	0.430757	0.11694	T	0.016668627	0.00214	0.04453407	0.05791	0.016668627	0.00213	0.04453407	0.05791	-1.761	0.02395	T	.	.	0.073	0.04764	B	.;.;.;.	.;.;.;.	-0.267064	0.02765	0.373	0.27816353052468407	0.01399	0.01897	0.05819	N	AEFDBI	0.078388	0.15815	N	-1.05070870787632	0.07574	0.3522884	-1.09286301062711	0.07840	0.3829763	0.425514450338456	0.20327	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.66	1.1	0.19578	-0.136000	0.10384	1.055000	0.23671	-0.133000	0.13014	0.000000	0.06391	0.946000	0.28899	0.229000	0.22707	0.0:0.322:0.0:0.678	6.292	0.20270	951	0.11083	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	929.43	34	chr20	353433	.	T	C	929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.023;DP=418;ExcessHet=0;FS=2.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.497;SOR=0.693	GT:AD:DP:GQ:PL	0/1:53,43:96:99:941,0,1327	9	0	1	0
chr20	396235	396235	G	A	exonic	TRIB3	.	nonsynonymous SNV	TRIB3:NM_001301188:exon4:c.G622A:p.V208M,TRIB3:NM_001301190:exon4:c.G622A:p.V208M,TRIB3:NM_001301193:exon4:c.G622A:p.V208M,TRIB3:NM_001301196:exon4:c.G622A:p.V208M,TRIB3:NM_021158:exon4:c.G622A:p.V208M,TRIB3:NM_001301201:exon5:c.G703A:p.V235M	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0238887266644	.	0.000199681	1.659e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs562068333	1.437e-05	1.505e-05	1.634e-05	1.239e-05	0.0001	9.24e-06	7.84e-06	4.909e-05	3.167e-05	0	0	0	0.0001	0	0	9.897e-06	1.657e-05	4.638e-05	6.564e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.54683	D	0.005	0.72224	D	0.998	0.73220	D	0.923	0.65830	D	0.000432	0.44522	D	0.000000	0.588955	0.31036	N	1.985	0.53793	M	-0.19	0.65931	T	-1.61	0.38734	N	0.157	0.31590	-0.3652	0.73108	T	0.327	0.69487	T	10	0.18726933	0.34229	T	0.023889	0.46868	T	0.219	0.51417	0.352	0.35084	0.69588290463	0.69326	0.3061388269551915	0.30526	0.681505250009	0.60048	0.632900357246	0.57557	T	0.231057	0.59728	T	-0.00899072	0.50408	T	-0.250691	0.49748	T	0.895061433315277	0.54655	D	0.881612	0.60121	D	0.07491922	0.16844	0.09121326	0.21433	0.07491922	0.16844	0.09121326	0.21432	-7.437	0.57165	T	.	.	0.141	0.33412	B	.;.;.	.;.;.	4.746515	0.76605	26.5	0.99889822340725831	0.96436	0.64568	0.32449	D	AEFDBHCI	0.179165	0.30645	N	0.455855408620202	0.64535	4.71034	0.392163142923593	0.61080	4.303366	0.999995373160929	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.18	4.19	0.48645	0.998000	0.29345	7.085000	0.57485	0.676000	0.76740	0.479000	0.26792	1.000000	0.68203	0.596000	0.31288	0.0969:0.1953:0.7078:0.0	6.602	0.21901	835	0.38313	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1053.43	33	chr20	396235	.	G	A	1053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.54;DP=413;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.248;SOR=0.816	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	0	1	0
chr20	1619877	1619877	C	A	exonic	SIRPB1	.	nonsynonymous SNV	SIRPB1:NM_001083910:exon1:c.G68T:p.R23I,SIRPB1:NM_001135844:exon1:c.G68T:p.R23I,SIRPB1:NM_001329157:exon1:c.G68T:p.R23I,SIRPB1:NM_006065:exon1:c.G68T:p.R23I	.	.	.	.	.	.	.	.	.	.	.	2765855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.113	0.000997540058738	.	.	.	.	.	.	.	.	.	.	.	.	.	rs865983979	1.233e-05	1.3e-05	1.09e-05	1.376e-05	0.0017	7.7e-06	6.36e-06	0.0009	0.0007	0	2.243e-05	0	0	0	0.0017	6.302e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.192	0.29153	T	0.0	0.15093	B	0.002	0.19048	B	0.013381	0.01363	U	3.043770	1	0.08975	N	0	0.06538	N	4.62	0.10386	T	1.18	0.01369	N	0.159	0.20793	-1.0114	0.26478	T	0.016	0.06711	T	10	0.3414393	0.51194	T	9.98E-4	0.01073	T	0.113	0.31778	0.76	0.88892	0.255270683199	0.25152	0.3580609975853042	0.35720	0.230124363935	0.25565	0.361215442419	0.19563	T	0.003486	0.02889	T	-0.29588	0.09053	T	-0.662788	0.08079	T	0.134217822777187	0.15766	T	0.453055	0.21717	T	0.031100648	0.02890	0.059880704	0.11311	0.031100648	0.02889	0.059880704	0.11311	-4.526	0.44635	T	.	.	0.122	0.25850	B	.;.;.;.;.	.;.;.;.;.	-0.036355	0.04038	0.931	0.62163497144357815	0.06892	0.03397	0.08510	N	AEFDBHCI	0.053936	0.09763	N	-1.46565855142027	0.02097	0.09222223	-1.56957573653143	0.01844	0.08404051	0.999999767880778	0.74766	0.428477	0.06694	0	0.405561	0.06353	1	0.547309	0.15389	0	0.631631	0.49550	0	.	.	1.85	-3.11	0.04975	-0.503000	0.06464	-5.477000	0.01704	-4.285000	0.00034	0.527000	0.27166	0.000000	0.08366	0.000000	0.00833	0.2091:0.2806:0.2066:0.3037	0.224	0.00160	958	0.09170	.;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.05	2781.43	36	chr20	1619877	.	C	A	2781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.355;DP=429;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=23.98;ReadPosRankSum=-1.389;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,1097:.	9	0	1	0
chr20	2102135	2102135	G	C	exonic	STK35	.	nonsynonymous SNV	STK35:NM_080836:exon1:c.G254C:p.G85A	.	442	1018	58	4	0	66	0.0313987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.00499201	0.0290	0	0.0312	0	.	0.0226	0	0.0336	0.0022509	348	154602	rs35569160	0.0093	0.0086	0.0090	0.0096	0.0207	0.0091	0.0091	0.0172	0.0168	0.0013	0.0037	0.0145	3.46e-05	0.0030	0.0207	0.0093	0.0106	0.0181	0.0065	0.0065	0.0067	0.0064	0.0183	0.0062	0.0061	0.0152	0.0140	0.0017	0.0022	0.0057	0.0130	0.0002	0.0028	0.0171	0.0096	0.0062	0.0183	0.969	0.02057	T	0.955	0.02582	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.20048	N	0.345	0.11182	N	-0.27	0.67367	T	-0.31	0.12099	N	0.087	0.06454	-1.0002	0.29860	T	0.088	0.33885	T	9	0.0032199621	0.00055	T	.	.	.	0.048	0.13305	.	.	0.550461726676	0.54703	0.16462568001023903	0.16382	1.13840482688	0.78847	0.568786382675	0.48506	T	0.003846	0.03252	T	-0.455329	0.01050	T	-0.411889	0.32008	T	0.0035260295607513	0.00037	T	0.478252	0.14398	T	0.026215747	0.01651	0.049031965	0.07407	0.026215747	0.01651	0.049031965	0.07407	-3.411	0.15204	T	.	.	0.065	0.01859	B	.	.	0.154691	0.05464	1.931	0.712979375028716	0.09582	0.12875	0.17532	N	ALL	0.041294	0.06258	N	-1.46821197340051	0.02078	0.09137222	-1.46390537359334	0.02646	0.1220965	0.999999999998893	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.98	-1.58	0.08029	-0.011000	0.12659	0.363000	0.17596	-0.212000	0.08331	0.000000	0.06391	0.226000	0.23749	0.044000	0.14658	0.4268:0.1785:0.3947:0.0	4.043	0.09242	806	0.43582	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001445	0.000000	0.000000	0.014286	0.100000	0.000000	0.000000	0.000000	0.05	338.43	45	chr20	2102135	.	G	C	338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.408;DP=376;ExcessHet=0;FS=3.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-0.31;SOR=1.473	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,931	9	0	1	0
chr20	2796623	2796623	G	T	exonic	CPXM1	.	nonsynonymous SNV	CPXM1:NM_001184699:exon8:c.C949A:p.P317T,CPXM1:NM_019609:exon8:c.C949A:p.P317T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.454	0.0156708581116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.008	0.67890	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.375	0.91388	M	3.38	0.05778	T	-5.97	0.89272	D	0.64	0.65245	-0.9653	0.38151	T	0.094	0.35604	T	10	0.87225926	0.86498	D	0.015671	0.36531	T	0.454	0.75347	0.8	0.91946	0.639027027806	0.63605	0.8243501799998144	0.82393	1.07623771461	0.76979	0.61884188652	0.55565	T	0.247088	0.61667	T	0.197391	0.73648	D	0.0457626	0.73304	D	0.992619454860687	0.83140	D	0.937406	0.76468	D	0.79925287	0.83858	0.6683214	0.80545	0.79925287	0.83859	0.6683214	0.80546	-6.936	0.53566	T	.	.	0.232	0.46447	B	.	.	4.849270	0.79243	27.1	0.99769878929784084	0.85834	0.99285	0.93953	D	AEFDBI	0.941523	0.94490	D	0.963490328934644	0.94505	12.811	0.905740515374052	0.95817	14.00003	0.997843130398488	0.36100	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.43	5.43	0.79006	6.812000	0.75016	11.922000	0.99834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	16.769	0.85392	740	0.53092	Peptidase M14, carboxypeptidase A|AEBP1/CPX, carboxypeptidase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1378.43	36	chr20	2796623	.	G	T	1378.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=428;ExcessHet=0;FS=2.651;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=-1.162;SOR=0.976	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	9	0	1	0
chr20	2865406	2865406	T	C	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.T1750C:p.W584R,VPS16:NM_022575:exon22:c.T2182C:p.W728R	.	429	1043	45	5	0	55	0.0256889	.	.	.	2736087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.688	.	0.0059	0.00359425	0.0068	0.0010	0.0062	0	0.0009	0.0081	0.0077	0.0115	0.0064488	997	154602	rs61729229	0.0057	0.0057	0.0054	0.0061	0.0276	0.0056	0.0056	0.0241	0.0227	0.0018	0.0074	0.0353	2.519e-05	0.0007	0.0276	0.0048	0.0083	0.0113	0.0053	0.0053	0.0052	0.0055	0.0109	0.0050	0.0049	0.0095	0.0090	0.0013	0.0044	0.0109	0.0409	0.0002	0.0006	0.0170	0.0053	0.0147	0.0083	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	0.72	0.50976	T	-13.03	0.99887	D	0.778	0.77507	-0.5647	0.66223	T	0.217	0.57915	T	10	0.017725319	0.00380	T	.	.	.	0.688	0.88632	0.91	0.98190	0.727100791208	0.72467	0.896248764703781	0.89595	0.859348079951	0.68892	0.761442005634	0.76143	T	0.258767	0.62995	T	-0.0480361	0.44744	T	0.167618	0.81267	D	0.0540455955808897	0.06196	T	0.769823	0.39947	T	0.9643266	0.97712	0.9436374	0.98003	0.96964383	0.98227	0.9436374	0.98003	-9.093	0.73558	D	.	.	0.978	0.90664	P	.;.	.;.	5.227488	0.87742	29.3	0.99530452978001271	0.69839	0.93689	0.58911	D	AEFDBCI	0.769772	0.70493	D	0.736808766137726	0.82044	7.666397	0.720030717527245	0.83901	8.144543	0.999996139414198	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.669000	0.67750	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.810	0.62751	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.015609	0.015152	0.023098	0.020468	0.000000	0.017241	0.006098	0.011364	0.05	1587.43	34	chr20	2865406	.	T	C	1587.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.59;DP=453;ExcessHet=0;FS=3.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=0.746;SOR=0.995	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1210	9	0	1	0
chr20	3082760	3082760	C	T	exonic	AVP	.	nonsynonymous SNV	AVP:NM_000490:exon3:c.G365A:p.R122H	Diabetes insipidus, neurohypophyseal, Autosomal dominant	12	1506	4	0	0	4	0.00132626	.	.	.	2137009	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.314	.	.	0.000399361	0.0261	.	0	0	.	0	0	0.0307	0.0001164	18	154602	rs549545938	0.0002	0.0002	0.0001	0.0002	0.0043	0.0001	0.0001	0.0038	0.0035	0	0.0001	0	0	0	0.0003	8.488e-06	0.0004	0.0043	9.233e-05	9.193e-05	6.45e-05	0.0001	0.0021	5.548e-05	4.38e-05	0.0011	0.0009	0	0	0	0	0	0	0	5.904e-05	0	0.0021	0.085	0.32769	T	0.041	0.50514	D	0.997	0.70673	D	0.683	0.53559	P	0.006253	0.32164	N	0.255699	1	0.08975	N	2.215	0.62545	M	-4.25	0.97054	D	-0.49	0.15578	N	0.076	0.05037	0.296	0.87496	D	0.791	0.92917	D	10	0.0065873265	0.00149	T	.	.	.	0.314	0.63588	0.386	0.40624	0.994563733753	0.99450	0.38411864539401724	0.38326	0.68430610145	0.60211	0.732278764248	0.71839	T	0.114361	0.43212	T	-0.20407	0.20219	T	-0.0652299	0.65964	T	0.122880162436963	0.14709	T	0.624837	0.24114	T	0.08540013	0.19808	0.09721158	0.23130	0.07577989	0.17095	0.106729135	0.25680	-5.839	0.44913	T	.	.	0.108	0.20313	B	.	.	3.350368	0.46210	22.3	0.99890620438818334	0.96513	0.15115	0.18752	N	AEFDBHI	0.068088	0.13416	N	-0.311088638870626	0.28726	1.586844	-0.403878540627956	0.24883	1.365146	0.999651936875583	0.41424	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.37	3.39	0.37919	0.296000	0.18839	2.133000	0.30793	0.502000	0.22824	0.001000	0.13787	1.000000	0.68203	0.772000	0.36596	0.1816:0.8184:0.0:0.0	11.464	0.49473	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001555	0.000000	0.000000	0.000000	0.000000	0.014706	0.000000	0.000000	0.1	1366.14	43	chr20	3082760	.	C	T	1366.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.43;DP=287;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=17.51;ReadPosRankSum=-0.238;SOR=0.793	GT:AD:DP:GQ:PL	0/0:33,0:33:93:0,93,1395	8	0	2	0
chr20	3148406	3148406	T	C	exonic	FASTKD5	.	nonsynonymous SNV	FASTKD5:NM_021826:exon2:c.A665G:p.H222R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.014954345043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.577e-06	9.577e-06	1.225e-05	6.876e-06	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.121	0.35840	T	0.993	0.65571	D	0.796	0.58006	P	0.006376	0.32080	N	0.132116	1	0.81001	D	2.515	0.73286	M	2.44	0.15145	T	-2.29	0.50992	N	0.471	0.50688	-1.0737	0.08619	T	0.046	0.19720	T	10	0.32221422	0.49574	T	0.014954	0.35393	T	0.164	0.42212	0.391	0.41443	0.310458034454	0.30648	0.28966821529293757	0.28879	0.382706904123	0.39604	0.448393911123	0.31725	T	0.050247	0.28540	T	-0.0905129	0.37990	T	-0.367792	0.37146	T	0.91414475440979	0.57067	D	0.508249	0.16142	T	0.055329464	0.10739	0.09641478	0.22907	0.055329464	0.10738	0.09641478	0.22906	-4.757	0.34086	T	.	.	0.325	0.54876	B	.	.	3.451966	0.48069	22.6	0.98622727819252065	0.43798	0.94245	0.60556	D	AEFBCI	0.484817	0.52467	N	0.186823077964043	0.50566	3.245407	0.212628582345707	0.50547	3.245652	0.949933261760798	0.27870	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	3.61	0.40494	4.511000	0.60181	4.619000	0.44068	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.1222:0.0:0.1284:0.7494	9.238	0.36640	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1439.43	35	chr20	3148406	.	T	C	1439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.639;DP=479;ExcessHet=0;FS=1.27;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=0.906;SOR=0.726	GT:AD:DP:GQ:PL	0/1:89,67:156:99:1451,0,2190	9	0	1	0
chr20	3270526	3270526	G	A	exonic	C20orf194	.	nonsynonymous SNV	C20orf194:NM_001009984:exon30:c.C2687T:p.T896M	.	433	1076	11	2	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00706387392754	0.0020	0.000399361	0.0016	0.0001	0.0010	0	0	0.0025	0.0022	0.0010	0.001423	220	154602	rs61734536	0.0010	0.0010	0.0009	0.0011	0.0104	0.0010	0.0009	0.0082	0.0074	0.0004	0.0009	0.0199	7.557e-05	0	0.0104	0.0005	0.0031	0.0009	0.0010	0.0010	0.0012	0.0008	0.0008	0.0009	0.0008	0.0006	0.0006	4.813e-05	0	0.0008	0.0202	0	0	0.0068	0.0008	0.0028	0.0008	0.172	0.22660	T	0.264	0.22761	T	0.005	0.12996	B	0.002	0.06944	B	0.683345	0.10239	N	0.868192	1	0.08975	N	1.155	0.29575	L	2.19	0.18724	T	-1.57	0.37955	N	0.124	0.11626	-1.0246	0.22214	T	0.031	0.13242	T	10	0.002697289	0.00042	T	0.007064	0.18704	T	0.059	0.16972	.	.	0.448498829774	0.44469	0.3119763271510845	0.31110	0.180957177562	0.20352	.	.	.	0.027973	0.20368	T	-0.632024	0.00093	T	-0.739827	0.03897	T	0.0122767947871683	0.00198	T	0.240176	0.03436	T	0.022769598	0.00963	0.07199755	0.15482	0.022769598	0.00963	0.07199755	0.15482	-4.375	0.29216	T	.	.	0.067	0.02370	B	.	.	0.591787	0.09604	6.376	0.93264850271802124	0.22961	0.06461	0.12469	N	AEFBI	0.051133	0.09005	N	-1.41053819242941	0.02545	0.1125367	-1.45039972113467	0.02766	0.1278428	0.020266759278747	0.13241	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.26	-6.97	0.01459	0.092000	0.14905	-1.840000	0.04631	-1.405000	0.01138	0.000000	0.06391	0.000000	0.08366	0.628000	0.32104	0.6024:0.0:0.3976:0.0	14.476	0.67123	376	0.83959	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.013265	0.000000	0.012262	0.035294	0.055556	0.025862	0.006250	0.000000	0.05	1291.43	34	chr20	3270526	.	G	A	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.998;DP=386;ExcessHet=0;FS=2.125;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.99;ReadPosRankSum=0.877;SOR=0.424	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1151	9	0	1	0
chr20	3672800	3672800	G	A	exonic	ADAM33	.	nonsynonymous SNV	ADAM33:NM_001282447:exon12:c.C1232T:p.P411L,ADAM33:NM_025220:exon12:c.C1232T:p.P411L,ADAM33:NM_153202:exon12:c.C1232T:p.P411L	.	405	1115	2	0	0	2	0.000896057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0124492320735	.	0.000998403	0.0010	0.0002	0	0	0	7.375e-05	0.0021	0.0066	0.0005757	89	154602	rs532929915	0.0003	0.0003	0.0001	0.0004	0.0043	0.0003	0.0002	0.0039	0.0038	3.091e-05	0	0	0	0	0.0009	1.281e-05	0.0002	0.0043	0.0002	0.0002	0.0001	0.0002	0.0043	0.0001	0.0001	0.0029	0.0024	2.404e-05	0	0	0	0	0	0	5.879e-05	0	0.0043	0.138	0.27783	T	0.095	0.39492	T	0.015	0.19406	B	0.021	0.24676	B	.	.	.	.	1	0.08975	N	.	.	.	4.73	0.01620	T	-2.18	0.49187	N	0.155	0.24135	-0.9125	0.46543	T	0.006	0.01870	T	9	0.0047920346	0.00101	T	0.012449	0.31033	T	0.015	0.02232	0.335	0.32329	0.186928172975	0.18263	0.43242996816164375	0.43159	0.758253607898	0.64117	0.554195821285	0.46448	T	0.086319	0.37698	T	-0.645673	0.00077	T	-0.699838	0.05835	T	0.0104120472063197	0.00143	T	0.680032	0.28847	T	0.05982978	0.12206	0.06801808	0.14149	0.05982978	0.12205	0.06801808	0.14148	-3.389	0.18088	T	.	.	0.072	0.06849	B	.;.;.;.	.;.;.;.	1.407142	0.18221	13.62	0.9163655327292306	0.20923	0.03492	0.08660	N	AEFDBCI	0.159601	0.28542	N	-0.946985684577288	0.09760	0.4633692	-0.97610970232954	0.10324	0.5192061	0.999876307426344	0.44625	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	4.43	1.36	0.21139	1.656000	0.36971	3.512000	0.38846	0.616000	0.49467	0.013000	0.18845	0.732000	0.26423	0.011000	0.09372	0.1717:0.149:0.6793:0.0	6.520	0.21469	632	0.64850	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	621.43	37	chr20	3672800	.	G	A	621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.252;DP=388;ExcessHet=0;FS=1.006;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=1.06;SOR=0.527	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr20	3705864	3705864	C	T	exonic	SIGLEC1	.	nonsynonymous SNV	SIGLEC1:NM_001367089:exon3:c.G586A:p.V196I,SIGLEC1:NM_023068:exon4:c.G586A:p.V196I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.0219512541813	.	.	3.299e-05	0	8.64e-05	0.0001	0	3.002e-05	0	0	4.53e-05	7	154602	rs745472020	4.105e-06	4.104e-06	5.445e-06	2.75e-06	5.038e-05	1.48e-06	9.7e-07	8.35e-06	3.12e-06	0	2.236e-05	0	5.038e-05	0	0	2.698e-06	0	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.232e-05	5.24e-06	2.45e-06	1.918e-05	1.031e-05	7.232e-05	0	0	0	0	0	0	0	0	0	0.363	0.11807	T	0.777	0.04372	T	0.162	0.28404	B	0.022	0.19653	B	0.656192	0.10468	N	0.798511	1	0.08975	N	-0.355	0.03127	N	-1.07	0.76948	T	-0.48	0.15379	N	0.073	0.04668	-1.0125	0.26133	T	0.186	0.53631	T	10	0.059565783	0.07181	T	0.021951	0.44785	T	0.141	0.37795	0.201	0.11522	0.396645960531	0.39282	0.06842486880266611	0.06780	0.105708572132	0.11951	0.263902902603	0.05364	T	0.204689	0.56352	T	-0.44808	0.01159	T	-0.616984	0.11422	T	0.0486358661772412	0.05257	T	0.558744	0.19484	T	0.025470912	0.01489	0.043481164	0.05418	0.025470912	0.01488	0.043481164	0.05418	-4.665	0.32978	T	.	.	0.07	0.03479	B	.	.	-0.895936	0.00932	0.035	0.79266953525668238	0.12664	0.00489	0.02319	N	AEFDBI	0.053998	0.09779	N	-1.68049636004167	0.00913	0.0395394	-1.77180340056427	0.00854	0.03814817	0.980020661655821	0.30090	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.68	-7.08	0.01404	-1.093000	0.03473	-1.512000	0.05273	-1.020000	0.01735	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.6103:0.0:0.3897	14.418	0.66740	749	0.51929	CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1565.43	128	chr20	3705864	.	C	T	1565.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.831;DP=491;ExcessHet=0;FS=4.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.031;SOR=1.053	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:80,44:130:99:159,0,1108	1	0	7	2
chr20	5106224	5106224	T	C	exonic	TMEM230	.	nonsynonymous SNV	TMEM230:NM_001009925:exon3:c.A186G:p.I62M,TMEM230:NM_001330985:exon3:c.A186G:p.I62M,TMEM230:NM_001330986:exon3:c.A186G:p.I62M,TMEM230:NM_001330987:exon3:c.A186G:p.I62M,TMEM230:NM_014145:exon3:c.A186G:p.I62M,TMEM230:NM_001009923:exon4:c.A375G:p.I125M,TMEM230:NM_001009924:exon4:c.A186G:p.I62M,TMEM230:NM_001330984:exon4:c.A186G:p.I62M	.	498	1023	1	0	0	1	0.00048852	.	.	.	1526231	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.247	0.0223845270806	0.0005	0.000599042	0.0009	9.614e-05	8.637e-05	0	0.0035	0.0012	0.0022	6.061e-05	0.0008538	132	154602	rs148033002	0.0010	0.0010	0.0010	0.0010	0.0009	0.0010	0.0010	0.0009	0.0008	0.0003	0.0006	0.0080	0	0.0033	0.0003	0.0009	0.0013	2.319e-05	0.0011	0.0011	0.0011	0.0010	0.0010	0.0009	0.0009	0.0007	0.0006	0.0002	0	0.0010	0.0084	0	0.0040	0	0.0009	0.0028	0	0.285	0.21968	T	0.054	0.47097	T	0.934	0.77913	P	0.64	0.72692	P	0.000000	0.84330	D	0.000000	0.999934	0.51612	D	1.935	0.51832	L	0.84	0.47477	T	-0.68	0.22727	N	0.522	0.57775	-0.9138	0.46377	T	0.182	0.53011	T	10	0.012658149	0.00271	T	0.022385	0.45274	T	0.247	0.55478	.	.	0.151104730317	0.14643	0.8339449554676419	0.83353	0.787649090982	0.65612	0.636922240257	0.58127	T	0.016888	0.19745	T	-0.296397	0.09005	T	-0.223157	0.52432	T	0.045536301761534	0.04699	T	0.813219	0.47377	T	0.10336895	0.24431	0.068868764	0.14438	0.10336895	0.24431	0.068868764	0.14437	-5.254	0.41284	T	.	.	0.286	0.51857	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.562008	0.33183	19.26	0.99254734236094277	0.56989	0.79956	0.39726	D	AEFBI	0.353055	0.44561	N	0.0586384747242887	0.44542	2.72624	-0.0187462732004428	0.38868	2.29622	0.634208787341043	0.21995	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	1.43	0.21585	-0.250000	0.08849	0.886000	0.22434	0.661000	0.55757	0.751000	0.29144	1.000000	0.68203	0.992000	0.67800	0.4205:0.0:0.2584:0.321	5.677	0.17026	952	0.10565	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	845.43	47	chr20	5106224	.	T	C	845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=415;ExcessHet=0;FS=0.99;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.104;SOR=0.709	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr20	6041172	6041172	G	C	exonic	LRRN4	.	nonsynonymous SNV	LRRN4:NM_152611:exon5:c.C2073G:p.S691R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0476249960658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.913e-07	6.841e-07	1.373e-06	0	9.056e-07	0	0	.	.	0	0	0	0	0	0	9.056e-07	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.032	0.44694	D	0.035	0.52389	D	0.973	0.57599	D	0.554	0.49340	P	0.599905	0.10968	N	0.824844	0.990244	0.24196	N	1.79	0.46772	L	0.29	0.58897	T	-2.37	0.52289	N	0.492	0.52563	-0.8451	0.52304	T	0.171	0.51165	T	10	0.29089683	0.46669	T	0.047625	0.63006	D	0.188	0.46444	0.409	0.44395	0.404870348458	0.40103	0.4657862091517723	0.46497	0.749429864137	0.63691	0.431870043278	0.29464	T	0.089327	0.38349	T	-0.16599	0.25843	T	-0.476209	0.24851	T	0.776780784130096	0.44850	D	0.689231	0.29860	T	0.30458525	0.53313	0.33507508	0.59326	0.30458525	0.53313	0.33507508	0.59325	-12.92	0.89031	D	.	.	0.936	0.85584	P	.	.	1.261996	0.16596	12.64	0.99198863146736094	0.55201	0.25120	0.22602	N	AEFDBHCI	0.129013	0.24702	N	-0.447500123576726	0.23825	1.282179	-0.626746130160562	0.18806	1.006302	0.9824000632931	0.30394	0.405899	0.06291	1	0.379588	0.06130	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.54	-1.72	0.07671	-0.596000	0.05816	-0.299000	0.10130	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.094000	0.17991	0.5863:0.0:0.4137:0.0	11.938	0.52171	772	0.48957	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	740.43	33	chr20	6041172	.	G	C	740.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.997;DP=374;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.386;SOR=0.855	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1030	9	0	1	0
chr20	6084039	6084039	C	T	splicing	FERMT1	NM_017671:exon13:c.1718+1G>A	.	.	Kindler syndrome, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.954	YES	3860516	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.697050	0.93091	33	0.99548748988546631	0.71023	0.99001	0.89785	D	AEFDBI	.	.	.	1.09719036326994	0.98081	17.38615	0.922481559643636	0.96479	14.74772	0.99999999987483	0.74766	0.106106	0.02776	0	0.059962	0.00310	0	0.125526	0.03468	0	0.057018	0.00518	0	0.978593	0.82806	4.8	4.8	0.61157	7.905000	0.86479	7.656000	0.63963	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	18.243	0.89912	808	0.43318	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2629.43	37	chr20	6084039	.	C	T	2629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=995;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.72;SOR=0.707	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1198	9	0	1	0
chr20	9516096	9516096	G	A	exonic	LAMP5	.	nonsynonymous SNV	LAMP5:NM_012261:exon3:c.G334A:p.D112N	.	421	1078	22	1	0	24	0.0110092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.010784639031	.	0.00119808	0.0009	0	0.0002	0	0	0.0001	0.0026	0.0092	0.0008279	128	154602	rs200509210	0.0005	0.0005	0.0003	0.0007	0.0065	0.0005	0.0005	0.0060	0.0058	0	0.0002	0.0003	5.085e-05	0	0.0037	0.0001	0.0008	0.0065	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0002	0.0036	0.0031	0	0	6.531e-05	0.0003	0	0	0.0034	0.0001	0.0005	0.0052	0.202	0.20230	T	0.429	0.13752	T	0.001	0.07471	B	0.007	0.12992	B	0.000036	0.55875	N	0.189333	0.99512	0.81001	D	1.175	0.29870	L	1.48	0.31731	T	-0.84	0.22944	N	0.144	0.14480	-1.0935	0.04974	T	0.043	0.18451	T	9	0.0056346953	0.00125	T	0.010785	0.27705	T	0.072	0.21020	.	.	0.0986583533028	0.09354	0.38427635128069104	0.38342	0.0586717605693	0.06507	0.443458497524	0.31050	T	0.002241	0.01642	T	-0.640608	0.00083	T	-0.68896	0.06449	T	0.0260834277092017	0.01417	T	0.70423	0.31438	T	0.1910646	0.40718	0.15757488	0.36839	0.1910646	0.40718	0.15757488	0.36838	-4.421	0.29840	T	.	.	0.088	0.11558	B	.	.	2.559794	0.33151	19.25	0.99532716215292638	0.69963	0.88439	0.48367	D	AEFBCI	0.427236	0.49126	N	-0.235245939257997	0.31697	1.779919	-0.0266056507923178	0.38518	2.270409	0.999998762075356	0.74766	0.766844	0.99359	0	0.851219	0.99844	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	6.01	4.08	0.46880	3.572000	0.53593	5.883000	0.50667	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.1339:0.0:0.8661:0.0	12.568	0.55670	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	713.43	33	chr20	9516096	.	G	A	713.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.25;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.27;ReadPosRankSum=-3.004;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V,ANKEF1:NM_001303472:exon7:c.C569T:p.A190V,ANKEF1:NM_022096:exon7:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	317.55	81	chr20	10049705	.	C	T	317.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.332;DP=805;ExcessHet=1.5895;FS=229.965;InbreedingCoeff=-0.2493;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.222;SOR=9.688	GT:AD:DP:GQ:PL	0/1:41,17:58:42:42,0,909	6	0	4	0
chr20	13714910	13714911	CT	-	exonic	ESF1	.	frameshift deletion	ESF1:NM_001276380:exon14:c.2519_2520del:p.E840Afs*21,ESF1:NM_016649:exon14:c.2519_2520del:p.E840Afs*21	.	542	978	0	2	0	4	0.00204082	.	.	.	716859	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0027	0.000998403	0.0025	0.0008	0.0010	0	0.0027	0.0039	0.0044	0.0003	0.0001921	5	26028	rs534749610	0.0027	0.0027	0.0028	0.0026	0.0060	0.0026	0.0026	0.0044	0.0039	0.0003	0.0017	0.0029	0	0.0026	0.0060	0.0031	0.0025	0.0003	0.0024	0.0024	0.0026	0.0021	0.0039	0.0022	0.0021	0.0036	0.0034	0.0006	0	0.0020	0.0043	0	0.0010	0	0.0039	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2145.39	43	chr20	13714909	.	GCT	G	2145.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.425;DP=537;ExcessHet=0;FS=0.663;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-1.767;SOR=0.769	GT:AD:DP:GQ:PL	0/0:57,0:57:99:0,120,1800	9	0	1	0
chr20	13865502	13865502	C	T	exonic	SEL1L2	.	nonsynonymous SNV	SEL1L2:NM_025229:exon16:c.G1417A:p.V473I	.	442	1075	3	2	0	7	0.00324525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	0.00781339917218	0.0022	0.000798722	0.0021	0.0006	0.0007	0	0.0027	0.0031	0.0045	0.0007	0.0019857	307	154602	rs146654307	0.0021	0.0021	0.0022	0.0020	0.0057	0.0020	0.0020	0.0042	0.0037	0.0002	0.0013	0.0026	0	0.0025	0.0057	0.0023	0.0020	0.0009	0.0019	0.0019	0.0021	0.0016	0.0030	0.0017	0.0016	0.0027	0.0025	0.0005	0	0.0014	0.0040	0	0.0010	0.0034	0.0030	0.0043	0.0006	0.0	0.91255	D	0.011	0.64786	D	0.997	0.70673	D	0.994	0.82059	D	0.000124	0.49741	D	0.000000	0.999997	0.81001	D	2.25	0.63811	M	0.7	0.51474	T	-0.91	0.24460	N	0.535	0.56317	-0.6493	0.62745	T	0.270	0.64182	T	10	0.015165657	0.00318	T	0.007813	0.20720	T	0.228	0.52768	.	.	0.712539859807	0.71002	.	.	.	.	.	.	.	0.005166	0.04603	T	-0.317004	0.07147	T	-0.233057	0.51476	T	0.0856563854190605	0.10694	T	0.964104	0.86689	D	0.37297702	0.58804	0.31177217	0.57182	0.37297702	0.58804	0.31177217	0.57181	-6.207	0.47980	T	.	.	0.116	0.23325	B	.	.	4.279637	0.65178	24.8	0.99841023307149668	0.92143	0.96530	0.69600	D	AEFGBIJ	0.702153	0.65862	D	0.806793336629456	0.86530	8.914912	0.818767408618871	0.91067	10.702	0.999999999999994	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.88	5.88	0.94564	7.376000	0.78918	4.830000	0.45191	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	17.738	0.88307	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	222.43	37	chr20	13865502	.	C	T	222.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.235;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.17;ReadPosRankSum=-0.446;SOR=0.631	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr20	17659478	17659480	CCT	-	exonic	RRBP1	.	nonframeshift deletion	RRBP1:NM_001365613:exon3:c.1028_1030del:p.E343del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	822.39	41	chr20	17659477	.	CCCT	C	822.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.564;DP=434;ExcessHet=0;FS=2.328;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.76;MQRankSum=-0.117;QD=14.43;ReadPosRankSum=1.12;SOR=0.382	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1174	9	0	1	0
chr20	17975704	17975704	C	T	exonic	MGME1	.	nonsynonymous SNV	MGME1:NM_001363738:exon3:c.C292T:p.R98W,MGME1:NM_052865:exon3:c.C532T:p.R178W,MGME1:NM_001310338:exon4:c.C577T:p.R193W	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	438	1079	5	0	0	5	0.0023116	.	.	.	438876	not_provided|Mitochondrial_DNA_depletion_syndrome_11	MedGen:C3661900|MONDO:MONDO:0014039,MedGen:C3554462,OMIM:615084,Orphanet:352447	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.671	.	0.0032	0.00219649	0.0042	0.0010	0.0011	0	0.0165	0.0054	0.0055	0.0007	0.0043208	668	154602	rs143417446	0.0057	0.0057	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0015	0.0023	0	0.0151	0.0014	0.0063	0.0049	0.0007	0.0043	0.0043	0.0042	0.0044	0.0058	0.0040	0.0039	0.0053	0.0051	0.0012	0.0011	0.0027	0.0017	0	0.0144	0	0.0058	0.0033	0.0004	0.077	0.53172	T	0.113	0.36901	T	0.996	0.68779	D	0.663	0.52893	P	0.535039	0.11597	N	0.798993	1	0.81001	D	2.08	0.57402	M	0.9	0.46028	T	-2.08	0.47514	N	0.687	0.76296	-1.0329	0.19522	T	0.092	0.35228	T	10	0.008896202	0.00201	T	.	.	.	0.671	0.87820	.	.	0.564094393547	0.56072	0.52699069047774	0.52623	0.109337524117	0.12337	0.196669816971	0.00366	T	0.015923	0.21190	T	-0.464948	0.00915	T	-0.436916	0.29154	T	0.030974595485354	0.02142	T	0.594241	0.25103	T	0.21189569	0.43527	0.088061295	0.20510	0.22310755	0.44925	0.09451987	0.22375	-8.07	0.61546	D	0.2913666882063881	0.38796	0.107	0.22428	B	.;.	.;.	4.180714	0.62939	24.5	0.99920452701939011	0.98721	0.97725	0.76683	D	AEFBI	0.571564	0.57550	D	0.3142665459232	0.56879	3.853546	0.302518660635743	0.55685	3.731617	0.99999985021651	0.74766	0.732398	0.92422	0	0.71359	0.82159	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.49	4.55	0.55429	5.691000	0.67911	1.807000	0.28930	0.599000	0.40250	0.897000	0.31356	0.229000	0.23770	0.935000	0.47363	0.0:0.8552:0.0:0.1448	11.489	0.49619	782	0.47442	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.005051	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	509.43	36	chr20	17975704	.	C	T	509.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.848;DP=324;ExcessHet=0;FS=3.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.063;SOR=0.269	GT:AD:DP:GQ:PL	0/1:19,23:42:99:521,0,490	9	0	1	0
chr20	18396525	18396525	C	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon14:c.G1057A:p.E353K,DZANK1:NM_001099407:exon15:c.G1558A:p.E520K,DZANK1:NM_001351683:exon15:c.G1642A:p.E548K,DZANK1:NM_001351684:exon15:c.G1615A:p.E539K,DZANK1:NM_001367611:exon15:c.G1576A:p.E526K,DZANK1:NM_001367612:exon15:c.G1591A:p.E531K,DZANK1:NM_001367613:exon15:c.G1591A:p.E531K,DZANK1:NM_001367614:exon15:c.G1633A:p.E545K,DZANK1:NM_001367617:exon15:c.G1633A:p.E545K,DZANK1:NM_001367618:exon15:c.G1633A:p.E545K,DZANK1:NM_001367619:exon16:c.G1216A:p.E406K	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	.	0.0049	0.00339457	0.0015	0.0162	0.0015	0	0	0	0	0.0001	0.0013519	209	154602	rs13347177	0.0005	0.0005	0.0006	0.0005	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0014	0	2.523e-05	0	0.0023	1.799e-05	0.0013	0.0001	0.0046	0.0046	0.0046	0.0046	0.0157	0.0043	0.0042	0.0147	0.0143	0.0157	0	0.0022	0	0	0	0	1.47e-05	0.0038	0.0002	0.033	0.44358	D	0.024	0.56640	D	0.742	0.43019	P	0.181	0.35894	B	0.000000	0.84330	D	0.047358	0.998739	0.46639	D	2.56	0.74772	M	-0.54	0.70950	T	-3.75	0.71157	D	0.278	0.38027	-0.7285	0.59039	T	0.158	0.49094	T	10	0.007812202	0.00177	T	.	.	.	0.160	0.41473	.	.	0.39208347742	0.38818	0.6288972681655299	0.62822	0.0568055738289	0.06281	0.594399392605	0.52114	T	0.216969	0.65372	T	-0.375299	0.03334	T	-0.298894	0.44842	T	0.047714322021288	0.05092	T	0.838616	0.51512	T	0.3735312	0.58845	0.27250674	0.53161	0.3735312	0.58845	0.27250674	0.53160	-8.58	0.64957	D	.	.	0.162	0.57355	B	.;.;.;.;.	.;.;.;.;.	3.211383	0.43716	21.8	0.99411981810677286	0.63310	0.82906	0.42073	D	AEFBI	0.237564	0.35983	N	-0.130395289610873	0.36073	2.080267	-0.0729276817171575	0.36513	2.125947	0.966140876803176	0.28882	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.99	2.98	0.33575	2.598000	0.45887	5.028000	0.46802	-0.187000	0.09635	0.998000	0.41325	1.000000	0.68203	0.902000	0.43815	0.0:0.7091:0.1373:0.1535	7.580	0.27124	666	0.61362	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1116.43	34	chr20	18396525	.	C	T	1116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=430;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.529;SOR=0.576	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1266	9	0	1	0
chr20	18542375	18542375	G	A	exonic	SEC23B	.	nonsynonymous SNV	SEC23B:NM_001172745:exon13:c.G1484A:p.R495H,SEC23B:NM_001172746:exon13:c.G1430A:p.R477H,SEC23B:NM_006363:exon13:c.G1484A:p.R495H,SEC23B:NM_032985:exon13:c.G1484A:p.R495H,SEC23B:NM_032986:exon13:c.G1484A:p.R495H	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	257333	not_provided|Congenital_dyserythropoietic_anemia,_type_II|not_specified|Cowden_syndrome_7	MedGen:C3661900|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|MedGen:CN169374|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.670	.	0.0073	0.00499201	0.0022	0.0227	0.0019	0.0002	0	2.998e-05	0	6.056e-05	0.0020246	313	154602	rs141588462	0.0007	0.0007	0.0008	0.0007	0.0239	0.0007	0.0007	0.0225	0.0219	0.0239	0.0017	0	0.0001	0	0.0024	3.417e-05	0.0017	0.0002	0.0062	0.0062	0.0061	0.0063	0.0217	0.0059	0.0057	0.0205	0.0201	0.0217	0	0.0020	0	0	0	0	4.41e-05	0.0038	0.0002	0.123	0.29288	T	0.055	0.46862	T	0.961	0.55431	D	0.613	0.51171	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.7	0.79018	M	-1.33	0.98229	T	-3.67	0.74269	D	0.878	0.87590	0.712	0.93330	D	0.891	0.96368	D	10	0.011357635	0.00249	T	.	.	.	0.670	0.87771	.	.	0.972762489249	0.97246	0.7749315972061656	0.77443	0.273388309675	0.29839	0.712621927261	0.68973	T	0.158999	0.58215	T	-0.053244	0.43954	T	0.167662	0.81269	D	0.0336981880692407	0.02588	T	0.992526	0.97582	D	0.3885153	0.59926	0.42148572	0.66079	0.46717665	0.65117	0.4326478	0.66844	-9.27	0.69419	D	0.14981508671212346	0.17548	0.242	0.51005	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.660206	0.92868	33	0.99952247555547336	0.99951	0.99503	0.96817	D	AEFDBI	0.931750	0.92104	D	0.775513872632098	0.84553	8.319949	0.760084945912707	0.86909	9.042831	0.999999999999929	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	10.003000	0.99689	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.111	0.86552	544	0.72685	Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2175.43	33	chr20	18542375	.	G	A	2175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.016;DP=544;ExcessHet=0;FS=1.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.33;SOR=0.576	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1316	9	0	1	0
chr20	18630384	18630384	G	T	exonic	DTD1	.	nonsynonymous SNV	DTD1:NM_001318043:exon5:c.G481T:p.D161Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	.	0	0	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10786182	0.20054	T	.	.	.	.	.	.	.	.	.	0.22195270624651095	0.22110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170083	0.01604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.23779	B	.	.	0.058162	0.04700	1.338	0.22651361776058013	0.00921	0.00218	0.01233	N	AEFBI	.	.	.	.	.	.	.	.	.	0.120322708292356	0.16865	0.078448	0.01964	0	0.09434	0.02614	0	0.083675	0.02720	0	0.062806	0.01542	0	0.046875	0.06002	.	.	.	-0.467000	0.06741	.	.	0.243000	0.18268	0.000000	0.06391	.	.	0.002000	0.04165	.	.	.	641	0.64016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	33.33	1	chr20	18630384	.	G	T	33.33	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=14;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0;SOR=0.223	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,130	5	0	1	4
chr20	19960701	19960701	T	A	exonic	RIN2	.	nonsynonymous SNV	RIN2:NM_001242581:exon5:c.T500A:p.I167N,RIN2:NM_018993:exon6:c.T353A:p.I118N	Macrocephaly, alopecia, cutis laxa, and scoliosis, Autosomal recessive	.	.	.	.	.	.	.	0.6389	0.48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0348046016736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.395e-06	2.052e-06	0	2.814e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.68e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.61437	D	0.03	0.79402	D	0.868	0.68779	P	0.312	0.61233	B	0.005879	0.32444	N	0.360127	0.982924	0.39951	D	1.075	0.27130	L	1.03	0.40469	T	-3.05	0.62976	D	0.799	0.79889	-0.9919	0.32115	T	0.118	0.41385	T	9	0.34764817	0.51695	T	0.034805	0.55924	D	0.155	0.40530	0.66	0.79791	0.497481867153	0.49385	0.4421560917561823	0.44132	0.737364546988	0.63054	0.640012741089	0.58566	T	0.168476	0.51550	T	0.0279195	0.55447	T	-0.197672	0.54867	T	0.933669865131378	0.60058	D	0.945505	0.79230	D	0.244807	0.47433	0.26932576	0.52811	0.244807	0.47433	0.26932576	0.52810	-3.51	0.18031	T	.	.	0.372	0.60453	A	.;.;.	.;.;.	3.998859	0.58906	24.0	0.99382626456124123	0.61935	0.91334	0.53324	D	AEFBI	0.378816	0.46207	N	0.259333065067972	0.54102	3.576677	0.310452880144909	0.56152	3.778318	0.99995689878635	0.48110	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.911000	0.48472	4.241000	0.42707	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.1485:0.0:0.8515	8.337	0.31380	880	0.29376	SH2 domain|Ras and Rab interactor 2, SH2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	734.43	33	chr20	19960701	.	T	A	734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.035;DP=381;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.05;SOR=0.456	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1049	9	0	1	0
chr20	21303711	21303711	C	A	exonic	XRN2	.	stopgain	XRN2:NM_001317960:exon1:c.C173A:p.S58X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs773874400	3.001e-05	3.078e-05	3.295e-05	2.677e-05	3.54e-05	2.14e-05	1.883e-05	2.524e-05	2.22e-05	0	0	0	0	0	0	3.54e-05	0	0	6.569e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1213.43	35	chr20	21303711	.	C	A	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.271;DP=430;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-1.059;SOR=0.762	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1117	9	0	1	0
chr20	21705818	21705818	C	G	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_001257096:exon1:c.C106G:p.R36G,PAX1:NM_006192:exon1:c.C106G:p.R36G	.	.	.	.	.	.	.	.	.	.	.	742292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.273	0.568604408843	.	0.000998403	0	0	0	0	.	0	0	0	0.0003458	9	26028	rs552831589	0.0001	0.0001	0.0001	0.0001	0.0052	0.0001	0.0001	0.0045	0.0042	0.0052	0.0003	0	0	0	0.0003	4.147e-06	0.0005	0	0.0019	0.0019	0.0018	0.0020	0.0067	0.0017	0.0016	0.0060	0.0058	0.0067	0	0.0004	0	0	0	0	0	0.0010	0.0002	0.884	0.02519	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	-4.3	0.97172	D	0.11	0.05706	N	0.038	0.01999	-0.2437	0.76529	T	0.655	0.88012	D	9	0.0068674386	0.00156	T	0.568604	0.96090	D	0.273	0.58883	0.272	0.22210	0.245697971988	0.24196	0.24743659767534473	0.24657	1.65484946215	0.89605	0.812348663807	0.83851	D	0.078488	0.35903	T	-0.441857	0.01261	T	-0.404305	0.32885	T	0.00976049934364785	0.00128	T	0.388561	0.09605	T	0.0791306	0.18059	0.12500758	0.30124	0.0791306	0.18058	0.12500758	0.30123	-3.527	0.16812	T	.	.	0.052	0.00211	B	.;.	.;.	-0.619487	0.01519	0.097	0.36208049102972278	0.02316	0.00931	0.03609	N	AEFDBHCI	0.022093	0.01062	N	-1.25606075384765	0.04220	0.1900511	-1.21958375180221	0.05595	0.2670525	0.970563955730226	0.29217	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.25	0.668	0.17081	-0.269000	0.08626	0.091000	0.14516	-1.383000	0.01158	0.000000	0.06391	0.691000	0.26176	0.001000	0.02609	0.0:0.5239:0.4761:0.0	12.424	0.54870	839	0.37672	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	439.43	29	chr20	21705818	.	C	G	439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.11;DP=322;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=0.121;SOR=0.622	GT:AD:DP:GQ:PL	0/0:25,0:25:66:0,66,990	9	0	1	0
chr20	23444852	23444852	G	C	exonic	CSTL1	.	nonsynonymous SNV	CSTL1:NM_138283:exon4:c.G412C:p.E138Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0089	0.00798722	0.0024	0.0260	0.0015	0	0	3.001e-05	0.0011	0	0.0022703	351	154602	rs76182203	0.0007	0.0007	0.0009	0.0006	0.0266	0.0007	0.0007	0.0252	0.0246	0.0266	0.0017	0	0	0	0.0002	7.198e-06	0.0016	0	0.0078	0.0078	0.0079	0.0076	0.0266	0.0074	0.0072	0.0253	0.0248	0.0266	0	0.0041	0	0	0	0	4.411e-05	0.0047	0.0002	0.041	0.41915	D	0.16	0.31427	T	0.649	0.40609	P	0.104	0.31021	B	0.005802	0.01096	N	3.081050	1	0.08975	N	.	.	.	2.79	0.11189	T	-0.24	0.10833	N	0.141	0.14054	-1.0131	0.25943	T	0.006	0.01907	T	10	0.0041763783	0.00083	T	.	.	.	0.041	0.10877	.	.	0.0716867268079	0.06686	0.32155565151824417	0.32068	0.062640037526	0.06974	0.26288792491	0.05238	T	0.004528	0.03938	T	-0.725916	0.00025	T	-0.795233	0.02024	T	0.00458963428081075	0.00049	T	0.370463	0.08742	T	0.057640087	0.11495	0.03334155	0.02213	0.057640087	0.11495	0.03334155	0.02213	-3.432	0.15490	T	.	.	0.091	0.12891	B	.;.	.;.	0.312772	0.06877	3.412	0.86081908924461303	0.16301	0.35667	0.25355	N	AEFDBCI	0.039732	0.05813	N	-0.969755328472281	0.09254	0.437234	-1.0564043768251	0.08573	0.4221996	0.0135651373175953	0.12481	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.9	0.547	0.16392	0.308000	0.19071	3.023000	0.36010	-0.694000	0.04098	0.016000	0.19238	0.996000	0.32793	0.002000	0.04165	0.5037:0.0:0.4963:0.0	5.617	0.16718	824	0.40336	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1004.43	34	chr20	23444852	.	G	C	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.687;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.256;SOR=0.669	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1081	9	0	1	0
chr20	31544998	31544998	G	T	exonic	HM13	.	nonsynonymous SNV	HM13:NM_030789:exon4:c.G417T:p.Q139H,HM13:NM_178580:exon4:c.G417T:p.Q139H,HM13:NM_178581:exon4:c.G417T:p.Q139H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00605534548123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.518	0.07307	T	0.485	0.27591	T	0.014	0.16867	B	0.018	0.18489	B	0.000028	0.55875	D	0.165528	0.999995	0.58761	D	0.22	0.09567	N	2.26	0.17596	T	2.62	0.00206	N	0.637	0.64989	-0.9947	0.31379	T	0.018	0.07565	T	10	0.27679768	0.45244	T	0.006055	0.15816	T	0.211	0.50185	0.615	0.74884	0.718883813532	0.71641	0.6881043297977671	0.68750	0.591526734513	0.54588	0.719070196152	0.69911	T	0.067	0.33011	T	0.0114537	0.53223	T	-0.221324	0.52610	T	0.622413396835327	0.37305	D	0.952205	0.82980	D	0.066964515	0.14457	0.09873329	0.23549	0.066964515	0.14456	0.09873329	0.23549	-3.895	0.22542	T	.	.	0.418	0.66168	A	.;.;.;.;.	.;.;.;.;.	3.462168	0.48258	22.6	0.83261949730233187	0.14629	0.98353	0.81919	D	AEFDBI	0.872569	0.79448	D	-0.180370502505688	0.33954	1.932238	0.0617513614844255	0.42644	2.582907	0.999999999986413	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	4.07	0.46726	5.978000	0.70187	8.488000	0.77320	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0858:0.0:0.9142:0.0	11.291	0.48487	711	0.56613	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1295.43	33	chr20	31544998	.	G	T	1295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.44;DP=424;ExcessHet=0;FS=0.708;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.619;SOR=0.644	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1236	9	0	1	0
chr20	32022793	32022793	G	A	exonic	CCM2L	.	nonsynonymous SNV	CCM2L:NM_001365692:exon6:c.G1067A:p.R356H,CCM2L:NM_080625:exon6:c.G1067A:p.R356H	.	.	.	.	.	.	.	.	0.0144	0.232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0275390476818	7.7e-05	.	0.0001	0.0003	0	0	0	7.712e-05	0	0.0003	8.41e-05	13	154602	rs376576656	4.519e-05	4.583e-05	4.224e-05	4.817e-05	0.0006	3.545e-05	3.325e-05	0.0003	0.0002	8.969e-05	0	0	2.52e-05	0	0.0006	2.248e-05	3.318e-05	0.0004	3.945e-05	3.941e-05	5.141e-05	2.692e-05	0.0002	1.716e-05	1.13e-05	1.921e-05	1.032e-05	7.245e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.191	0.29823	T	0.138	0.63918	T	0.015	0.17086	B	0.01	0.14941	B	0.003241	0.35212	N	0.299915	0.83185	0.34930	D	2.045	0.56016	M	-0.25	0.67011	T	-0.66	0.41428	N	0.294	0.33250	-0.7784	0.56392	T	0.199	0.55414	T	10	0.12418729	0.23585	T	0.027539	0.50338	D	0.071	0.20720	.	.	0.495372917472	0.49173	0.4995093793551757	0.49871	0.906940308468	0.70879	0.361169546843	0.19556	T	0.017244	0.14102	T	-0.250747	0.14007	T	-0.305808	0.44109	T	0.0991432631356986	0.12262	T	0.713629	0.43132	T	.	.	.	.	.	.	.	.	-4.43	0.29961	T	.	.	0.102	0.18164	B	.;.	.;.	5.217510	0.87565	29.3	0.99915806984636879	0.98379	0.98395	0.82339	D	AEFBI	0.890228	0.82506	D	-0.148436610473869	0.35302	2.02592	-0.0112503291326603	0.39205	2.321086	0.999998340786059	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.41	3.47	0.38831	7.145000	0.76950	9.933000	0.82595	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.1451:0.0:0.8549:0.0	10.770	0.45518	506	0.75555	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	712.43	38	chr20	32022793	.	G	A	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.879;DP=391;ExcessHet=0;FS=2.174;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.106;SOR=0.436	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1126	9	0	1	0
chr20	32071735	32071735	C	G	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172129:exon2:c.C73G:p.P25A,HCK:NM_001172130:exon2:c.C136G:p.P46A,HCK:NM_001172131:exon2:c.C73G:p.P25A,HCK:NM_002110:exon2:c.C136G:p.P46A,HCK:NM_001172132:exon3:c.C76G:p.P26A,HCK:NM_001172133:exon3:c.C73G:p.P25A	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0105029023185	0.0006	0.000998403	0.0003	0.0021	8.646e-05	0	0	0.0003	0	0	0.0002975	46	154602	rs147906206	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0001	0.0025	0.0023	0.0030	0.0002	3.827e-05	0	1.872e-05	0.0026	9.083e-05	0.0004	0	0.0008	0.0008	0.0008	0.0008	0.0024	0.0007	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0.0034	0.0002	0.0014	0	0.247	0.20683	T	0.779	0.11004	T	0.0	0.02946	B	0.002	0.06944	B	0.660694	0.05978	N	1.240240	1	0.08975	N	1.245	0.31408	L	-0.67	0.72678	T	-0.24	0.12099	N	0.22	0.25006	-1.0116	0.26416	T	0.160	0.49447	T	10	0.0047525167	0.00100	T	0.010503	0.27109	T	0.050	0.13987	.	.	0.475430695062	0.47172	0.06030458553689394	0.05970	.	.	0.218865916133	0.01245	T	0.006951	0.31691	T	-0.481002	0.00729	T	-0.470487	0.25464	T	0.00243759738003591	0.00025	T	0.514149	0.16548	T	0.02249149	0.00916	0.030427882	0.01497	0.02249149	0.00916	0.030427882	0.01497	-4.215	0.29339	T	.	.	0.060	0.00890	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.111212	0.03574	0.694	0.59816665029212734	0.06314	0.03789	0.09113	N	AEFBI	0.077547	0.15626	N	-1.12999471740164	0.06115	0.2806529	-1.16011195805502	0.06589	0.317622	0.999582906820994	0.40607	0.626454	0.40138	0	0.80507	0.99744	0	0.675528	0.61593	0	0.631631	0.49550	0	.	.	4.28	-0.253	0.12353	0.152000	0.16120	-0.475000	0.08954	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3642:0.4286:0.0:0.2071	3.176	0.06175	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003525	0.000000	0.006793	0.005848	0.000000	0.008621	0.000000	0.000000	0.05	1343.43	35	chr20	32071735	.	C	G	1343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=418;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.189;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1310:.	9	0	1	0
chr20	32434529	32434529	G	A	exonic	ASXL1	.	nonsynonymous SNV	ASXL1:NM_001363734:exon11:c.G1634A:p.R545Q,ASXL1:NM_015338:exon12:c.G1817A:p.R606Q	Bohring-Opitz syndrome, Autosomal dominant;Myelodysplastic syndrome, somatic	0	1518	4	0	0	4	0.00131579	.	.	.	137330	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.091	0.00573163330783	.	.	8.376e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs587778061	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0001	8.31e-06	6.7e-06	6.246e-05	4.757e-05	0	0	0	7.557e-05	0	0	5.396e-06	0	0.0001	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	1.47e-05	0	0	0.105	0.30097	T	0.17	0.30729	T	0.998	0.73220	D	0.941	0.67658	D	0.000002	0.62929	D	0.058920	0.991342	0.41366	D	2.135	0.59519	M	1.13	0.38556	T	-1.02	0.26843	N	0.237	0.38848	-1.0246	0.22214	T	0.159	0.49228	T	10	0.202584	0.36383	T	0.005732	0.14862	T	0.091	0.26358	0.389	0.41115	0.558342666981	0.55495	0.40875104621991576	0.40791	0.389394466878	0.40179	0.410139232874	0.26476	T	0.19763	0.55436	T	-0.188593	0.22465	T	-0.327149	0.41787	T	0.738233625888824	0.42642	D	0.940606	0.77652	D	0.19157045	0.40790	0.16870488	0.38851	0.19157045	0.40790	0.16870488	0.38850	-5.151	0.38439	T	.	.	0.117	0.23675	B	.;.;.;.;.	.;.;.;.;.	4.434897	0.68801	25.3	0.99946978788278895	0.99913	0.86238	0.45480	D	AEFDBCI	0.155125	0.28027	N	0.397852672095141	0.61304	4.329822	0.446141839732701	0.64468	4.702871	0.999999474996245	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.41	4.45	0.53365	1.983000	0.40270	11.928000	0.99887	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1356:0.0:0.8644:0.0	11.955	0.52263	518	0.74548	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1262.43	40	chr20	32434529	.	G	A	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.755;SOR=0.73	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,120,1800	9	0	1	0
chr20	32456182	32456182	G	A	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon3:c.C323T:p.S108L,NOL4L:NM_080616:exon3:c.C323T:p.S108L,NOL4L:NM_001256798:exon6:c.C1055T:p.S352L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0068475974796	.	0.000798722	0.0005	0	8.708e-05	0	0	4.641e-05	0	0.0041	0.0004463	69	154602	rs541553258	0.0002	0.0002	0.0001	0.0003	0.0036	0.0002	0.0002	0.0033	0.0032	0	0	0	5.218e-05	1.893e-05	0.0002	7.242e-06	0.0002	0.0036	0.0001	0.0001	7.705e-05	0.0001	0.0027	7.083e-05	5.74e-05	0.0016	0.0013	2.404e-05	0	0	0	0.0002	0	0	2.94e-05	0	0.0027	0.491	0.07969	T	0.346	0.17696	T	0.296	0.32457	B	0.024	0.20255	B	0.368460	0.13564	N	0.696787	1	0.08975	N	.	.	.	.	.	.	-0.38	0.13418	N	0.536	0.56403	-1.0615	0.11385	T	0.083	0.32470	T	9	0.0069964826	0.00159	T	0.006848	0.18121	T	0.062	0.17934	.	.	0.043077524339	0.03247	0.1188255053769968	0.11809	0.238803893762	0.26431	.	.	.	0.025161	0.18867	T	-0.527439	0.00398	T	-0.533457	0.18942	T	0.0635478815302345	0.07715	T	0.90041	0.65400	D	0.039680246	0.05524	0.04895584	0.07378	0.039680246	0.05524	0.04895584	0.07378	-3.546	0.17082	T	.	.	0.075	0.16886	B	.;.;.	.;.;.	2.964535	0.39493	21.0	0.97180648979261375	0.32718	0.97248	0.73568	D	AEFDGBI	0.529619	0.55066	D	-0.284787191324329	0.29735	1.651634	-0.156897260039894	0.33144	1.892876	0.999999998185333	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.04	4.09	0.47038	6.548000	0.73797	11.772000	0.95887	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.122000	0.19250	0.0839:0.0:0.9161:0.0	11.949	0.52232	566	0.70798	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2050.43	35	chr20	32456182	.	G	A	2050.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=472;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=1.95;SOR=0.67	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1248	9	0	1	0
chr20	32839770	32839770	G	A	exonic	MAPRE1	.	nonsynonymous SNV	MAPRE1:NM_012325:exon5:c.G511A:p.A171T	.	418	1086	18	0	0	18	0.00821918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0002	0.00299521	0.0019	0.0003	0.0007	0	0	0.0002	0.0055	0.0121	0.0016494	255	154602	rs374092179	0.0008	0.0008	0.0005	0.0012	0.0121	0.0008	0.0008	0.0115	0.0112	2.987e-05	6.708e-05	0	0	0	0.0050	7.194e-05	0.0011	0.0121	0.0005	0.0005	0.0002	0.0007	0.0108	0.0004	0.0003	0.0084	0.0076	9.623e-05	0	0.0003	0	0	0	0.0034	0.0001	0.0005	0.0108	0.244	0.17468	T	0.34	0.18018	T	0.004	0.12183	B	0.006	0.12133	B	0.022673	0.26589	N	0.399541	0.996799	0.43422	D	0.965	0.23975	L	0.75	0.50192	T	0.48	0.03041	N	0.216	0.24135	-1.0915	0.05286	T	0.076	0.30429	T	10	0.0037770271	0.00070	T	.	.	.	0.031	0.07369	.	.	0.417183330711	0.41332	0.4672995081289453	0.46648	0.367858101756	0.38347	0.461358457804	0.33497	T	0.046655	0.27488	T	-0.489096	0.00657	T	-0.463652	0.26202	T	0.0044250417205482	0.00047	T	0.69903	0.30897	T	0.099409126	0.23461	0.11817439	0.28527	0.099409126	0.23461	0.11817439	0.28526	-4.527	0.31240	T	.	.	0.066	0.02200	B	.	.	1.979463	0.25148	16.66	0.97027241803136388	0.32051	0.84481	0.43563	D	AEFDBCI	0.340668	0.43741	N	-0.718343764915602	0.15507	0.7820598	-0.573407941403257	0.20187	1.086516	0.638446806586041	0.22031	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.11	3.08	0.34576	1.529000	0.35602	5.632000	0.49119	-0.199000	0.08999	0.993000	0.37899	1.000000	0.68203	0.120000	0.19168	0.0:0.0:0.6913:0.3087	13.315	0.59840	286	0.88678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.026515	0.05	1432.43	35	chr20	32839770	.	G	A	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.681;DP=447;ExcessHet=0;FS=0.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-2.397;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1041	9	0	1	0
chr20	32912837	32912837	G	C	exonic	EFCAB8	.	nonsynonymous SNV	EFCAB8:NM_001143967:exon17:c.G1829C:p.G610A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	0.0020	0.00479233	0.0009	0.0083	0	0	0	0.0001	0	0	0.0003558	55	154602	rs113341957	0.0004	0.0004	0.0005	0.0004	0.0112	0.0004	0.0004	0.0099	0.0093	0.0112	0.0007	0	0	0	0.0002	5.991e-05	0.0009	1.593e-05	0.0032	0.0032	0.0034	0.0030	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0015	0	0	0	0	2.94e-05	0.0033	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.792	0.78832	.	.	.	.	.	.	.	0.011139214	0.00245	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.4600009700316676	0.45918	.	.	.	.	.	.	.	.	-0.42164	0.01670	T	-0.368045	0.37116	T	0.0318667941371714	0.02284	T	0.589041	0.21605	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.571	0.67664	P	.	.	4.139377	0.62006	24.4	0.99722820032360138	0.82195	0.77798	0.38295	D	AEFDBHCIJ	0.503842	0.53566	D	0.259696499101138	0.54121	3.578422	0.250377029745098	0.52671	3.44039	0.999350527677063	0.39259	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.662026	0.63922	0	.	.	5.36	5.36	0.76624	5.813000	0.68876	10.648000	0.83523	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.727000	0.35000	0.0:0.0:1.0:0.0	14.470	0.67090	154	0.93967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1408.43	35	chr20	32912837	.	G	C	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.265;DP=420;ExcessHet=0;FS=6.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=0.241;SOR=0.518	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1327	9	0	1	0
chr20	32918434	32918434	A	G	exonic	EFCAB8	.	nonsynonymous SNV	EFCAB8:NM_001143967:exon19:c.A2134G:p.T712A	.	424	1087	11	0	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0055	0.00439297	0.0027	0.0140	0.0098	0	0	0.0024	0.0041	0.0003	0.0006727	104	154602	rs116697586	0.0008	0.0007	0.0008	0.0008	0.0136	0.0007	0.0007	0.0126	0.0122	0.0136	0.0027	0.0082	0	0	0.0079	0.0002	0.0021	0.0001	0.0041	0.0041	0.0041	0.0041	0.0121	0.0039	0.0038	0.0113	0.0109	0.0121	0	0.0040	0.0095	0	0	0.0068	0.0002	0.0062	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.003719747	0.00069	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.19286877721724466	0.19204	.	.	.	.	.	.	.	.	-0.588571	0.00171	T	-0.607187	0.12214	T	0.00993325826508491	0.00132	T	0.150085	0.01260	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00563	B	.	.	1.533201	0.19672	14.38	0.16368962797746361	0.00436	0.00270	0.01469	N	AEFDGBI	0.012867	0.00153	N	-0.441996396992325	0.24013	1.29359	-0.366191311481627	0.26013	1.434126	0.00533116372678007	0.10904	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.93	3.93	0.44666	2.394000	0.44104	6.975000	0.57104	-0.110000	0.15115	0.993000	0.37899	1.000000	0.68203	0.031000	0.13245	0.1121:0.0:0.8879:0.0	7.861	0.28672	143	0.94301	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	768.43	44	chr20	32918434	.	A	G	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.459;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=0.085;SOR=0.641	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	9	0	1	0
chr20	32961580	32961580	G	A	exonic	EFCAB8	.	nonsynonymous SNV	EFCAB8:NM_001143967:exon27:c.G3838A:p.V1280M	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0006916	18	26028	rs186828263	0.0003	0.0003	0.0003	0.0004	0.0075	0.0003	0.0003	0.0056	0.0049	0.0003	0.0018	0.0082	0	2.583e-05	0.0075	0.0001	0.0012	7.974e-05	0.0006	0.0006	0.0005	0.0007	0.0025	0.0005	0.0005	0.0019	0.0017	4.811e-05	0	0.0025	0.0095	0	0	0.0034	0.0002	0.0028	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.05287	.	.	.	.	.	.	.	0.008717805	0.00198	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.007973938482530602	0.00762	.	.	.	.	.	.	.	.	-0.445952	0.01193	T	-0.878356	0.00668	T	.	.	.	0.436356	0.11970	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.18705	B	.	.	0.276347	0.06533	3.020	0.71654462440814037	0.09703	0.01270	0.04446	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.00777660664389791	0.11541	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.107536	0.23255	3.47	-3.08	0.05022	-0.262000	0.08706	-1.808000	0.04688	-0.241000	0.07509	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.5273:0.1722:0.3004:0.0	4.678	0.12102	123	0.95099	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	706.43	33	chr20	32961580	.	G	A	706.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.689;DP=364;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.47;SOR=0.392	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1199	9	0	1	0
chr20	33092482	33092482	G	A	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon9:c.G1168A:p.G390R	.	411	1104	6	1	0	8	0.00361011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	.	0.0004	0.00539137	0.0042	0.0002	8.714e-05	0.0240	0.0268	0.0016	0.0102	0.0005	0.0036481	564	154602	rs139946022	0.0024	0.0024	0.0025	0.0023	0.0361	0.0023	0.0023	0.0346	0.0339	5.975e-05	0.0002	0.0012	0.0361	0.0273	0.0012	0.0004	0.0020	0.0005	0.0036	0.0036	0.0024	0.0048	0.0276	0.0033	0.0032	0.0239	0.0225	4.81e-05	0	0.0004	0.0023	0.0276	0.0312	0	0.0007	0.0014	0.0010	0.128	0.26965	T	0.01	0.65728	D	0.747	0.43174	P	0.34	0.42389	B	0.259402	0.15345	N	0.629950	1	0.08975	N	1.245	0.31408	L	5.53	0.00894	T	-1.54	0.37375	N	0.22	0.24634	-0.7539	0.57731	T	0.002	0.00556	T	10	0.006673366	0.00151	T	.	.	.	0.143	0.38195	0.468	0.54052	0.12205267543	0.11705	0.37374091776177837	0.37288	0.0805407383043	0.09068	0.342932283878	0.16877	T	0.00415	0.03562	T	-0.562206	0.00246	T	-0.563426	0.16056	T	0.024583987873152	0.01219	T	0.786121	0.42437	T	0.08183286	0.18824	0.10609642	0.25516	0.08183286	0.18823	0.10609642	0.25516	-1.845	0.02647	T	.	.	0.137	0.29968	B	.	.	3.152347	0.42675	21.6	0.95581147410327949	0.27287	0.76222	0.37367	D	AEFDBI	0.310480	0.41649	N	-0.0235729096167818	0.40788	2.428441	-0.0320966369933884	0.38274	2.252613	0.21123195285544	0.18242	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	4.255000	0.58595	8.497000	0.77347	-0.205000	0.08568	0.988000	0.36536	1.000000	0.68203	0.181000	0.21328	0.0:0.0:1.0:0.0	14.779	0.69375	100	0.95872	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.05	754.43	36	chr20	33092482	.	G	A	754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.965;SOR=0.77	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,988	9	0	1	0
chr20	33097705	33097705	C	T	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon11:c.C1487T:p.A496V	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00263204837488	7.7e-05	0.00119808	0.0009	0	0.0007	0	0	0.0003	0.0022	0.0048	0.0007762	120	154602	rs199856517	0.0004	0.0004	0.0003	0.0005	0.0041	0.0004	0.0004	0.0037	0.0036	5.974e-05	0.0002	3.826e-05	2.519e-05	0	0.0031	0.0002	0.0007	0.0041	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	4.81e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0046	0.13	0.26740	T	0.007	0.69154	D	0.993	0.65571	D	0.716	0.54713	P	0.000033	0.55875	D	0.075509	0.768142	0.34119	D	2.2	0.62015	M	3.25	0.06762	T	-2.87	0.60348	D	0.571	0.59393	-1.0434	0.16294	T	0.052	0.21921	T	10	0.010781407	0.00238	T	0.002632	0.05349	T	0.166	0.42578	.	.	0.119812018005	0.11559	0.35861397347417834	0.35775	0.120734834091	0.13598	0.400557547808	0.25147	T	0.009758	0.08861	T	-0.447885	0.01162	T	-0.414904	0.31661	T	0.0691948620007443	0.08538	T	0.80002	0.44558	T	0.26235396	0.49297	0.2895609	0.54977	0.26235396	0.49297	0.2895609	0.54976	-5.132	0.38242	T	.	.	0.332	0.55355	B	.	.	4.632907	0.73682	26.0	0.9988309296810417	0.95892	0.48454	0.28210	N	AEFGBI	0.130857	0.24958	N	0.355486671861435	0.59031	4.079211	0.304003862488747	0.55775	3.740293	0.664768606090266	0.22310	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.44	5.44	0.79348	1.296000	0.32994	5.759000	0.49672	0.599000	0.40250	0.848000	0.30412	1.000000	0.68203	0.845000	0.39915	0.0:1.0:0.0:0.0	15.104	0.71975	100	0.95872	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.000000	0.003788	0.05	1085.43	34	chr20	33097705	.	C	T	1085.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.515;SOR=0.681	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1200	9	0	1	0
chr20	33217630	33217630	G	C	exonic	BPIFA3	.	nonsynonymous SNV	BPIFA3:NM_001042439:exon1:c.G94C:p.A32P,BPIFA3:NM_178466:exon1:c.G94C:p.A32P	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	.	0.0002	0.00319489	0.0014	0	0.0010	0	0	0.0010	0.0011	0.0057	0.0013195	204	154602	rs181900900	0.0008	0.0008	0.0007	0.0010	0.0056	0.0008	0.0008	0.0052	0.0050	0.0003	0.0007	0.0083	2.519e-05	0	0.0047	0.0003	0.0014	0.0056	0.0009	0.0009	0.0007	0.0010	0.0083	0.0007	0.0007	0.0063	0.0056	0.0001	0	0.0007	0.0061	0	0	0	0.0007	0.0019	0.0083	0.017	0.58626	D	0.014	0.62352	D	0.877	0.68779	P	0.451	0.69275	P	0.165763	0.17523	N	0.481193	0.998	0.22589	N	1.65	0.42232	L	1.75	0.37746	T	-1.1	0.32791	N	0.276	0.33140	-1.0687	0.09701	T	0.112	0.40029	T	10	0.0075567067	0.00172	T	.	.	.	0.123	0.34020	.	.	0.459192005304	0.45545	0.6299885124784714	0.62932	0.0782960899249	0.08811	0.363554656506	0.19902	T	0.030091	0.21412	T	-0.445801	0.01196	T	-0.41191	0.32006	T	0.0636152545167251	0.07724	T	0.648035	0.25918	T	0.25490013	0.48521	0.20711122	0.44955	0.25490013	0.48521	0.20711122	0.44954	-3.708	0.20640	T	.	.	0.147	0.45593	B	.;.	.;.	1.593372	0.20375	14.72	0.99503038794280496	0.68147	0.08710	0.14600	N	AEFDBI	0.086296	0.17498	N	-0.275635036701696	0.30092	1.674727	-0.416724984199146	0.24506	1.342324	1.94871559436246E-4	0.05898	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.36	2.28	0.27583	0.589000	0.23640	1.661000	0.27900	-0.103000	0.15852	0.000000	0.06391	0.004000	0.18990	0.011000	0.09372	0.2333:0.0:0.7667:0.0	6.506	0.21391	96	0.96030	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.009511	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1658.43	34	chr20	33217630	.	G	C	1658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.362;DP=430;ExcessHet=0;FS=3.299;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=-0.452;SOR=0.462	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1222	9	0	1	0
chr20	33288741	33288741	A	G	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon3:c.A116G:p.K39R	.	419	1102	1	0	0	1	0.000453515	0.0001	0.064	.	716908	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0084	0.00858626	0.0026	0.0273	0.0023	0	0	6.129e-05	0.0023	0	0.0024256	375	154602	rs61737957	0.0007	0.0007	0.0008	0.0007	0.0243	0.0007	0.0007	0.0229	0.0224	0.0243	0.0019	0	0	0	0.0004	6.476e-05	0.0020	1.16e-05	0.0076	0.0077	0.0074	0.0079	0.0262	0.0073	0.0071	0.0249	0.0244	0.0262	0	0.0037	0	0	0	0	8.823e-05	0.0052	0	0.612	0.05436	T	0.475	0.12072	T	0.001	0.07471	B	0.002	0.06944	B	0.964438	0.08201	N	0.983940	1	0.08975	N	0.55	0.14455	N	1.5	0.31205	T	-0.99	0.26200	N	0.04	0.01347	-1.0508	0.14175	T	0.017	0.06950	T	9	0.0028855205	0.00046	T	.	.	.	0.050	0.13987	.	.	0.0846915920261	0.08053	0.293957741046879	0.29308	0.1350257562	0.15216	0.2923579216	0.09266	T	0.024274	0.18375	T	-0.623963	0.00104	T	-0.648107	0.09087	T	0.0090914399496975	0.00114	T	0.531747	0.18617	T	0.027346475	0.01914	0.026624478	0.00762	0.027346475	0.01913	0.026624478	0.00762	-4.22	0.27040	T	.	.	0.083	0.12560	B	.;.	.;.	0.143019	0.05365	1.848	0.73213375381383172	0.10247	0.01692	0.05390	N	AEFDBI	0.048193	0.08198	N	-1.31117973487941	0.03546	0.1586006	-1.45548446198128	0.02721	0.1256637	0.999958297649162	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.45	-10.2	0.00305	-0.756000	0.04882	-0.086000	0.12117	0.751000	0.87719	0.002000	0.15269	0.000000	0.08366	0.090000	0.17789	0.1985:0.1113:0.472:0.2183	4.111	0.09528	61	0.97388	.;Lipid-binding serum glycoprotein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	703.43	34	chr20	33288741	.	A	G	703.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.878;DP=458;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.82;ReadPosRankSum=-1.39;SOR=0.478	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	9	0	1	0
chr20	33306964	33306964	G	A	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon15:c.G1372A:p.A458T	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0024276967128	0.0004	0.000199681	0.0002	0	0.0003	0	0.0002	0.0003	0.0011	0.0002	0.0002264	35	154602	rs142612737	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	5.974e-05	0.0004	0.0003	0	3.744e-05	0.0012	0.0003	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	7.212e-05	0	0.0005	0	0	0.0003	0.0034	0.0003	0.0009	0	0.562	0.06341	T	0.299	0.20422	T	0.023	0.18885	B	0.012	0.16012	B	0.233799	0.03536	N	1.583250	1	0.08975	N	1.04	0.26193	L	3.24	0.06845	T	0.03	0.06612	N	0.061	0.03283	-0.9717	0.36841	T	0.015	0.06234	T	10	0.019562542	0.00438	T	0.002428	0.04785	T	0.079	0.23065	.	.	0.0551355673512	0.04727	0.11313821962502961	0.11241	0.172788980557	0.19455	0.230882942677	0.02034	T	0.001109	0.00619	T	-0.595015	0.00156	T	-0.776319	0.02566	T	0.0121603045941184	0.00195	T	0.454055	0.12934	T	0.041686036	0.06185	0.053449728	0.09004	0.041686036	0.06185	0.053449728	0.09003	-3.497	0.16389	T	.	.	0.084	0.09530	B	.	.	0.645019	0.10137	6.879	0.69389018155303894	0.08956	0.01084	0.03998	N	AEFDBI	0.031260	0.03302	N	-1.05724297677758	0.07446	0.3459258	-1.11583973759372	0.07397	0.3596563	0.0272146901132478	0.13760	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	4.63	-2.16	0.06684	-0.032000	0.12217	0.461000	0.18618	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.070000	0.16646	0.2502:0.1654:0.2489:0.3354	0.180	0.00114	49	0.97662	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	974.43	34	chr20	33306964	.	G	A	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.488;DP=387;ExcessHet=0;FS=1.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.238;SOR=0.954	GT:AD:DP:GQ:PL	0/1:22,41:63:99:986,0,497	9	0	1	0
chr20	33309740	33309740	G	A	exonic	BPIFB1	.	stopgain	BPIFB1:NM_033197:exon16:c.G1428A:p.W476X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999914	0.19599	N	.	.	.	.	.	.	.	.	.	0.122	0.11340	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.084114	0.96121	35	0.77624367528176408	0.11954	0.10507	0.15995	N	AEFDBI	0.033231	0.03902	N	0.0349615739048139	0.43451	2.637784	-0.329726337576476	0.27143	1.504128	0.0411595688663605	0.14471	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.44	1.41	0.21461	3.733000	0.54753	3.608000	0.39244	0.665000	0.62972	0.165000	0.23867	1.000000	0.68203	0.001000	0.02609	0.1248:0.0:0.6428:0.2324	4.006	0.09089	48	0.97687	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1657.43	33	chr20	33309740	.	G	A	1657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.202;DP=479;ExcessHet=0;FS=4.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.75;ReadPosRankSum=-0.179;SOR=0.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,99,1485:.	9	0	1	0
chr20	33658831	33658831	T	A	exonic	NECAB3	.	nonsynonymous SNV	NECAB3:NM_031232:exon9:c.A883T:p.I295F,NECAB3:NM_031231:exon10:c.A781T:p.I261F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0516909097117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.75	0.80375	M	2.17	0.27822	T	-3.0	0.62630	D	0.812	0.80767	-0.7306	0.58933	T	0.190	0.54153	T	10	0.5581593	0.64636	D	0.051691	0.64767	D	0.376	0.69443	0.462	0.53079	0.467794223868	0.46406	0.6652581009969321	0.66462	1.25061590108	0.81788	0.655222475529	0.60727	T	0.132726	0.46299	T	0.219443	0.75722	D	0.0774387	0.75406	D	0.968389717626287	0.68225	D	0.859414	0.55137	D	0.4797728	0.65887	0.3526925	0.60843	0.4797728	0.65887	0.3526925	0.60842	-10.821	0.79959	D	.	.	0.383	0.58617	A	.;.;.;.	.;.;.;.	4.593112	0.72674	25.9	0.98692196824646428	0.44780	0.92277	0.55342	D	AEFDBHCI	0.686982	0.64848	D	0.547696755695075	0.69941	5.429288	0.478867983571983	0.66592	4.972147	0.999986650713959	0.51787	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.89	4.89	0.63387	4.570000	0.60586	6.192000	0.54780	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.894000	0.43146	0.0:0.0:0.0:1.0	13.487	0.60826	115	0.95340	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	566.43	34	chr20	33658831	.	T	A	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.644;DP=352;ExcessHet=0;FS=9.953;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.193;SOR=0.107	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1182	9	0	1	0
chr20	33662388	33662388	C	T	exonic	C20orf144	.	stopgain	C20orf144:NM_080825:exon1:c.C43T:p.Q15X	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.861e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs762770370	3.073e-05	3.147e-05	2.962e-05	3.188e-05	3.614e-05	2.316e-05	2.058e-05	2.706e-05	2.376e-05	0	0	0	0	0	0	3.614e-05	5.171e-05	1.262e-05	1.314e-05	1.313e-05	0	2.689e-05	6.545e-05	2.18e-06	8.2e-07	.	.	0	0	6.545e-05	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007829	0.31171	N	0.148744	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.153	0.15749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393806	0.89554	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.206167	0.96266	35	0.9973345306644138	0.82975	0.77749	0.38264	D	AEFGBCI	0.131328	0.25022	N	0.924786695227276	0.92919	11.70948	0.726193367980337	0.84367	8.272376	0.999999976881407	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	5.04	5.04	0.67293	3.824000	0.55423	1.613000	0.27646	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.297000	0.24428	0.0:1.0:0.0:0.0	13.749	0.62374	116	0.95299	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1665.43	33	chr20	33662388	.	C	T	1665.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.57;DP=453;ExcessHet=0;FS=2.998;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.862;SOR=0.92	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1364	9	0	1	0
chr20	33791189	33791189	C	A	exonic	ZNF341	.	nonsynonymous SNV	ZNF341:NM_001282935:exon14:c.C1967A:p.P656H,ZNF341:NM_001282933:exon15:c.C2237A:p.P746H,ZNF341:NM_032819:exon15:c.C2216A:p.P739H	.	404	1117	1	0	0	1	0.000447427	.	.	.	1883989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0182159306807	.	.	1.728e-05	0	0	0	0	3.18e-05	0	0	1.29e-05	2	154602	rs773579457	5.682e-05	5.678e-05	5.177e-05	6.193e-05	6.116e-05	4.68e-05	4.304e-05	4.9e-05	4.484e-05	0	0	0	0	0	0	6.116e-05	0.0002	4.638e-05	3.941e-05	3.94e-05	3.853e-05	4.034e-05	8.818e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.818e-05	0	0	0.014	0.61437	D	0.111	0.37173	T	0.043	0.21573	B	0.026	0.20792	B	0.004313	0.33881	N	0.222782	0.588039	0.32431	D	0.345	0.11182	N	3.14	0.10101	T	-1.1	0.30964	N	0.317	0.35727	-1.0509	0.14147	T	0.021	0.08686	T	10	0.13593346	0.25864	T	0.018216	0.40210	T	0.056	0.15993	0.339	0.32979	0.570406028562	0.56706	0.2326547279693263	0.23180	0.308413385656	0.33155	0.480381190777	0.36110	T	0.019707	0.15652	T	-0.382253	0.03016	T	-0.600319	0.12785	T	0.0786691424441701	0.09816	T	0.616838	0.23625	T	0.15343598	0.34780	0.13569582	0.32482	0.15343598	0.34779	0.13569582	0.32481	-6.103	0.47809	T	.	.	0.111	0.21653	B	.;.	.;.	3.516576	0.49270	22.8	0.99253637747111212	0.56957	0.37649	0.25809	N	AEFDGBI	0.109341	0.21720	N	-0.414226496399574	0.24970	1.352	-0.310125924984803	0.27770	1.543355	0.999937258228717	0.46732	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.528226	0.09195	0	.	.	4.97	4.97	0.65419	2.189000	0.42253	4.016000	0.41206	0.549000	0.26987	0.723000	0.28851	0.857000	0.27449	0.351000	0.25682	0.0:1.0:0.0:0.0	16.766	0.85385	244	0.90442	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	942.43	36	chr20	33791189	.	C	A	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.75;SOR=0.743	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1002	9	0	1	0
chr20	34575211	34575211	T	C	exonic	PIGU	.	nonsynonymous SNV	PIGU:NM_080476:exon11:c.A1087G:p.I363V	.	428	1093	1	0	0	1	0.000457247	.	.	.	2132310	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00451965352345	0.0002	0.000199681	6.609e-05	0.0006	8.685e-05	0	0	1.502e-05	0	0	5.82e-05	9	154602	rs145473483	2.599e-05	2.668e-05	2.45e-05	2.75e-05	0.0007	1.932e-05	1.692e-05	0.0005	0.0004	0.0007	2.236e-05	0	0	0	0	2.698e-06	0.0001	2.319e-05	0.0001	0.0001	6.428e-05	0.0002	0.0004	8.169e-05	6.725e-05	0.0002	0.0002	0.0004	0	6.536e-05	0	0	0	0	1.471e-05	0	0.0002	0.16	0.33254	T	0.193	0.28210	T	0.001	0.07471	B	0.001	0.04355	B	0.001483	0.38855	N	0.257927	0.981446	0.39777	D	0.9	0.23182	L	.	.	.	-0.73	0.20576	N	0.102	0.10911	-1.0465	0.15389	T	0.111	0.39841	T	9	0.043304503	0.03165	T	0.00452	0.11125	T	0.030	0.07022	.	.	0.110392049598	0.10638	.	.	0.152986545687	0.17264	0.468273699284	0.34443	T	0.037129	0.24361	T	-0.372209	0.03483	T	-0.429698	0.29969	T	0.0155192289057744	0.00352	T	0.755224	0.37818	T	0.02901406	0.02329	0.040127654	0.04266	0.02901406	0.02329	0.040127654	0.04266	-3.289	0.13596	T	0.08182636453146966	0.04265	0.058	0.02091	B	.;.;.	.;.;.	1.232254	0.16270	12.43	0.9304987235894866	0.22658	0.70311	0.34538	D	AEFBI	0.121770	0.23660	N	-0.695031756723549	0.16162	0.8210222	-0.579353319794227	0.20032	1.07745	0.0748586982539156	0.15678	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	0.532	0.16309	0.708000	0.25393	0.476000	0.18759	-0.133000	0.13014	0.968000	0.34134	0.199000	0.23556	0.981000	0.58702	0.0:0.2843:0.0:0.7157	9.325	0.37150	293	0.88320	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	578.43	34	chr20	34575211	.	T	C	578.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.105;DP=384;ExcessHet=0;FS=4.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-1.556;SOR=0.439	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr20	34740518	34740518	C	T	exonic	NCOA6	.	nonsynonymous SNV	NCOA6:NM_014071:exon11:c.G5738A:p.S1913N,NCOA6:NM_001318240:exon12:c.G5738A:p.S1913N	.	431	1089	2	0	0	2	0.000917431	.	.	.	694532	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	0.00437236144329	.	0.00259585	0.0007	0.0076	8.67e-05	0	0	0	0.0011	0	0.0006404	99	154602	rs146290271	0.0002	0.0002	0.0002	0.0002	0.0081	0.0002	0.0002	0.0073	0.0070	0.0081	0.0003	0	0	0	0.0005	5.396e-06	0.0003	2.319e-05	0.0017	0.0017	0.0017	0.0017	0.0061	0.0016	0.0015	0.0055	0.0052	0.0061	0	0.0005	0	0	0	0	2.94e-05	0.0014	0	0.395	0.10659	T	0.2	0.27591	T	0.0	0.02946	B	0.001	0.04355	B	0.027093	0.25813	N	0.407539	0.933031	0.27006	N	0.46	0.12951	N	1.85	0.24472	T	-0.11	0.08653	N	0.104	0.09772	-0.9867	0.33420	T	0.016	0.06329	T	10	0.0036070049	0.00065	T	0.004372	0.10655	T	0.067	0.19503	.	.	0.15499578495	0.15088	0.16463658666953399	0.16383	0.116126271502	0.13098	0.382820278406	0.22657	T	0.129959	0.45856	T	-0.703667	0.00035	T	-0.77968	0.02463	T	0.00395541245333831	0.00042	T	0.60344	0.22635	T	0.036320142	0.04446	0.054359768	0.09333	0.036320142	0.04446	0.054359768	0.09333	-5.152	0.38450	T	.	.	0.082	0.08657	B	.;.	.;.	1.062768	0.14447	11.02	0.96864083677926827	0.31392	0.34165	0.25002	N	AEFDBCI	0.068115	0.13423	N	-0.733028111648236	0.15099	0.75794	-0.596507266720254	0.19583	1.051358	0.00208323217943141	0.09143	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.51	1.44	0.21647	-0.020000	0.12466	-0.503000	0.08791	0.599000	0.40250	0.288000	0.25215	0.016000	0.20520	0.999000	0.91618	0.0:0.5912:0.0:0.4088	8.027	0.29605	335	0.86220	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1800.43	35	chr20	34740518	.	C	T	1800.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.939;DP=447;ExcessHet=0;FS=3.121;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.198;SOR=0.48	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1361	9	0	1	0
chr20	34742064	34742064	G	A	exonic	NCOA6	.	nonsynonymous SNV	NCOA6:NM_014071:exon11:c.C4192T:p.P1398S,NCOA6:NM_001318240:exon12:c.C4192T:p.P1398S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00472598371558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	6.546e-05	2.18e-06	8.2e-07	.	.	0	0	6.546e-05	0	0	0	0	0	0.0005	0	0.927	0.02268	T	0.24	0.24406	T	0.0	0.02946	B	0.0	0.01387	B	0.140340	0.18313	N	0.537326	1	0.08975	N	0.14	0.08730	N	1.83	0.24841	T	0.65	0.02332	N	0.06	0.03175	-1.0281	0.21070	T	0.021	0.08686	T	10	0.025263011	0.00726	T	0.004726	0.11753	T	0.045	0.12272	0.188	0.09776	0.134007934775	0.12933	0.24111701487599474	0.24025	0.126821059007	0.14290	0.310003131628	0.11907	T	0.065725	0.32763	T	-0.358457	0.04218	T	-0.752675	0.03383	T	0.032061201700384	0.02316	T	0.686731	0.29555	T	0.02461828	0.01311	0.04105407	0.04580	0.02461828	0.01310	0.04105407	0.04580	-2.846	0.08615	T	.	.	0.067	0.02370	B	.;.	.;.	1.479363	0.19046	14.06	0.70207366691681927	0.09220	0.66717	0.33175	D	AEFBCI	0.072841	0.14549	N	-0.774808360663031	0.13969	0.6921195	-0.597655993652773	0.19553	1.049646	0.00165922759980875	0.08750	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	-0.0461	0.13177	1.192000	0.31759	3.355000	0.37815	-0.185000	0.09859	0.967000	0.34061	1.000000	0.68203	0.989000	0.64315	0.3048:0.1157:0.4103:0.1691	1.223	0.01810	335	0.86220	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2738.43	35	chr20	34742064	.	G	A	2738.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.629;DP=515;ExcessHet=0;FS=2.492;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=2.35;SOR=0.759	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1361	9	0	1	0
chr20	34742369	34742369	T	C	exonic	NCOA6	.	nonsynonymous SNV	NCOA6:NM_014071:exon11:c.A3887G:p.N1296S,NCOA6:NM_001318240:exon12:c.A3887G:p.N1296S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00367510539099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	0	5.5e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.993e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.08634	T	0.897	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.000716	0.42254	N	0.208217	0.88617	0.35853	D	0.22	0.09567	N	1.85	0.24472	T	0.18	0.05035	N	0.101	0.08786	-0.9766	0.35772	T	0.017	0.07092	T	10	0.05152133	0.05046	T	0.003675	0.08464	T	0.066	0.19193	0.25	0.18757	0.171220215726	0.16700	0.22721055605977433	0.22636	0.0985732448278	0.11138	0.368326485157	0.20592	T	0.078844	0.35989	T	-0.367375	0.03729	T	-0.765485	0.02919	T	0.0576223385413272	0.06789	T	0.751425	0.37327	T	0.014709285	0.00104	0.023150122	0.00330	0.014709285	0.00104	0.023150122	0.00330	-2.559	0.06198	T	.	.	0.051	0.00191	B	.;.	.;.	0.494620	0.08635	5.408	0.83826093791380518	0.14941	0.62095	0.31678	D	AEFBCI	0.060297	0.11450	N	-0.753931874591801	0.14526	0.7243557	-0.527336916746407	0.21412	1.15819	0.00266378412040618	0.09616	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.98	0.824	0.17956	0.038000	0.13749	-0.088000	0.12093	-0.163000	0.11536	0.952000	0.33172	0.854000	0.27420	0.996000	0.76049	0.0:0.4221:0.1978:0.3801	4.352	0.10595	335	0.86220	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2676.43	35	chr20	34742369	.	T	C	2676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.04;DP=502;ExcessHet=0;FS=8.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=-0.99;SOR=0.685	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1361	9	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/0:85,26:121:30:0,30,1399	2	0	8	0
chr20	34876769	34876769	C	A	exonic	ACSS2	.	nonsynonymous SNV	ACSS2:NM_001076552:exon1:c.C124A:p.P42T,ACSS2:NM_018677:exon1:c.C124A:p.P42T	.	428	1088	6	0	0	6	0.00274977	.	.	.	716915	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.065	.	0.0013	0.0061901	0.0024	0.0417	0	0	.	0	0	0.0010	0.0004269	66	154602	rs146486104	0.0004	0.0004	0.0004	0.0004	0.0170	0.0004	0.0004	0.0156	0.0151	0.0170	0.0008	0	0	0	0.0011	8.944e-06	0.0008	0.0003	0.0040	0.0040	0.0041	0.0039	0.0140	0.0037	0.0036	0.0130	0.0127	0.0140	0	0.0010	0	0	0	0	4.412e-05	0.0024	0.0006	0.474	0.40573	T	0.449	0.38305	T	0.004	0.12183	B	0.026	0.20792	B	0.000717	0.42254	D	0.241337	0.976324	0.81001	D	0.035	0.08059	N	2.91	0.10008	T	-1.43	0.38734	N	0.116	0.15328	-0.9036	0.47606	T	0.002	0.00707	T	10	0.005499065	0.00121	T	.	.	.	0.065	0.18881	.	.	0.215109475489	0.21095	0.4676459185008698	0.46683	1.79913636405	0.91619	0.542055249214	0.44735	T	0.126139	0.45232	T	-0.509305	0.00507	T	-0.489421	0.23452	T	0.0112966769302697	0.00167	T	0.934107	0.75346	D	0.16320813	0.36447	0.06821388	0.14216	0.16320813	0.36447	0.06821388	0.14216	-1.616	0.02293	T	.	.	0.114	0.46551	B	.;.;.;.;.	.;.;.;.;.	2.336642	0.29942	18.28	0.97882078457065691	0.36607	0.84793	0.43883	D	ALL	0.202961	0.32951	N	-0.527145479086573	0.21206	1.123695	-0.416999882295964	0.24498	1.341826	0.999999999729429	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	5.12	0.551	0.16414	-0.063000	0.11612	-0.450000	0.09105	0.520000	0.23804	0.491000	0.26886	0.000000	0.08366	0.997000	0.79791	0.0:0.5507:0.1517:0.2975	4.782	0.12576	583	0.69484	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	47.46	13	chr20	34876769	.	C	A	47.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.366;DP=111;ExcessHet=0;FS=0;InbreedingCoeff=-0.0552;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.78;ReadPosRankSum=0;SOR=0.446	GT:AD:DP:GQ:PL	0/0:6,0:6:15:0,15,225	9	0	1	0
chr20	34998421	34998421	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon33:c.G4000A:p.G1334R	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.610	.	.	.	1.673e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs372128121	8.899e-06	9.577e-06	8.174e-06	9.632e-06	2.519e-05	4.97e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	2.519e-05	0	0	8.993e-06	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	0.001624	0.38439	N	0.000000	1	0.81001	D	.	.	.	-1.69	0.82985	D	-5.42	0.85247	D	0.618	0.63374	0.819	0.94645	D	0.779	0.92488	D	10	0.8264601	0.81823	D	0.057995	0.67162	D	0.610	0.84719	.	.	0.792808343696	0.79088	0.48224683681404035	0.48144	0.638098247504	0.57551	0.570439219475	0.48740	T	.	.	.	-0.0388461	0.46119	T	-0.0569077	0.66548	D	0.985058307647705	0.76164	D	0.973103	0.90315	D	0.25171784	0.48182	0.22068338	0.46853	0.25171784	0.48182	0.22068338	0.46852	-9.984	0.73816	D	.	.	0.322	0.54653	B	.;.	.;.	5.832927	0.93748	33	0.99892531391290318	0.96589	0.98776	0.86705	D	AEFDBCI	0.967336	0.98981	D	0.831325096218162	0.88020	9.424359	0.696684781914116	0.82127	7.690654	0.99999999999834	0.74766	0.648878	0.45929	0	0.379588	0.06130	0	0.596394	0.31383	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.815000	0.98279	11.936000	0.99985	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.069000	0.16583	0.0:0.0:1.0:0.0	17.902	0.88823	621	0.65931	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1816.43	108	chr20	34998421	.	G	A	1816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=499;ExcessHet=0;FS=4.734;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.459;SOR=0.378	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1234	9	0	1	0
chr20	34999630	34999630	G	C	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon37:c.G4726C:p.E1576Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.640	0.0332701996427	.	.	5.113e-05	0	0	0	0	9.182e-05	0	0	3.88e-05	6	154602	rs763813486	1.3e-05	1.3e-05	1.361e-05	1.238e-05	2.238e-05	8.31e-06	6.7e-06	1.012e-05	8.35e-06	0	2.238e-05	0	0	0	0	1.619e-05	0	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.036	0.43393	D	0.108	0.37589	T	.	.	.	.	.	.	0.003391	0.35013	N	0.000000	0.999992	0.58761	D	.	.	.	-1.52	0.81478	D	-2.32	0.51478	N	0.699	0.70351	0.356	0.88427	D	0.648	0.87727	D	10	0.81161964	0.80441	D	0.03327	0.54861	D	0.640	0.86283	.	.	0.886307474639	0.88518	0.3265689002173703	0.32569	0.646230738328	0.58043	0.615639328957	0.55113	T	.	.	.	0.0353059	0.56428	T	-0.00115817	0.70261	D	0.833227097988129	0.48783	D	0.940306	0.77472	D	0.30912417	0.53710	0.36921373	0.62196	0.30912417	0.53710	0.36921373	0.62196	-9.478	0.70722	D	.	.	0.152	0.33619	B	.;.	.;.	4.171687	0.62732	24.5	0.99815018696923374	0.89885	0.98997	0.89729	D	AEFDGBCI	0.929272	0.91477	D	0.766308916861917	0.83963	8.156963	0.706828620172073	0.82897	7.882395	0.999999999954586	0.74766	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.508809	0.08732	0	.	.	4.05	4.05	0.46415	9.989000	0.99212	11.901000	0.99356	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.831	0.85808	615	0.66512	Myosin tail;Myosin tail	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	541.43	33	chr20	34999630	.	G	C	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=394;ExcessHet=0;FS=6.967;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=2.07;SOR=1.499	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1343	9	0	1	0
chr20	35000390	35000390	G	A	exonic	MYH7B	.	nonsynonymous SNV	MYH7B:NM_020884:exon39:c.G5005A:p.G1669S	.	416	1055	48	3	0	54	0.0249538	.	.	.	728613	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.392	.	0.0027	0.00439297	0.0051	0.0004	0.0023	0	0	0.0036	0.0129	0.0193	0.0044954	695	154602	rs201963394	0.0038	0.0038	0.0032	0.0044	0.0190	0.0037	0.0037	0.0183	0.0179	0.0006	0.0023	0.0005	2.519e-05	0.0002	0.0181	0.0030	0.0043	0.0190	0.0030	0.0030	0.0028	0.0033	0.0151	0.0028	0.0027	0.0124	0.0113	0.0005	0	0.0061	0.0006	0	0	0.0170	0.0036	0.0118	0.0151	0.035	0.43708	D	0.365	0.16717	T	.	.	.	.	.	.	0.038163	0.24316	N	0.205114	0.982128	0.39855	D	.	.	.	-1.7	0.83072	D	-3.35	0.66436	D	0.424	0.46368	-0.2066	0.77501	T	0.448	0.78348	T	10	0.012250483	0.00264	T	.	.	.	0.392	0.70764	.	.	0.624326400291	0.62126	0.25789666232263975	0.25703	0.175981301143	0.19813	0.720171570778	0.70071	T	.	.	.	-0.289717	0.09663	T	-0.17334	0.57136	T	0.0316961208468174	0.02257	T	0.927707	0.73352	D	0.14921352	0.34028	0.30081695	0.56115	0.16378477	0.36542	0.36038232	0.61480	-4.789	0.34463	T	.	.	0.139	0.30608	B	.;.	.;.	4.044325	0.59904	24.2	0.99355405892283677	0.60779	0.92154	0.55065	D	AEFDBHCI	0.773292	0.70735	D	0.0254915060892776	0.43015	2.602944	0.145682470713919	0.46915	2.929722	0.941430718863094	0.27477	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.711	0.71501	0	.	.	4.07	4.07	0.46726	4.877000	0.62779	11.887000	0.98989	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	0.0:0.0:1.0:0.0	16.863	0.85889	614	0.66605	Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015609	0.005051	0.014946	0.011696	0.000000	0.060345	0.018293	0.007576	0.05	1988.43	34	chr20	35000390	.	G	A	1988.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.51;DP=480;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.745;SOR=0.51	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1307	9	0	1	0
chr20	35176182	35176182	C	T	exonic	PROCR	.	nonsynonymous SNV	PROCR:NM_006404:exon3:c.C337T:p.R113C	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.683	0.0622122122142	0.0024	0.000599042	0.0017	0.0003	0.0003	0	0.0021	0.0026	0.0011	0.0004	0.0015718	243	154602	rs146420040	0.0019	0.0019	0.0019	0.0019	0.0023	0.0018	0.0018	0.0022	0.0022	0.0004	0.0008	0.0002	0	0.0014	0.0007	0.0023	0.0015	0.0004	0.0014	0.0014	0.0016	0.0012	0.0025	0.0012	0.0012	0.0022	0.0021	0.0005	0	0.0005	0.0003	0	0.0006	0.0035	0.0025	0.0014	0.0002	0.011	0.55530	D	0.031	0.53788	D	0.998	0.73220	D	0.734	0.55432	P	0.255588	0.15419	N	0.653877	0.998234	0.24467	N	2.425	0.70256	M	-1.68	0.82897	D	-4.49	0.78046	D	0.806	0.80180	-0.3592	0.73287	T	0.483	0.80285	T	10	0.12381315	0.23508	T	0.062212	0.68581	D	0.683	0.88396	.	.	0.88576274008	0.88464	0.673770665950426	0.67315	0.589731283567	0.54461	0.332381784916	0.15294	T	0.321455	0.69255	T	-0.130209	0.31461	T	0.0352608	0.72620	D	0.051731185773291	0.05801	T	0.849215	0.53152	T	0.403985	0.61008	0.24753031	0.50285	0.403985	0.61008	0.24753031	0.50284	-6.077	0.46919	T	.	.	0.217	0.44630	B	.	.	3.873946	0.56256	23.7	0.99877956461658446	0.95491	0.50759	0.28737	D	AEFDBI	0.187621	0.31491	N	0.16863455071315	0.49696	3.167187	0.0684881997569066	0.42976	2.608944	0.0958922438975643	0.16237	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.6	0.951	0.18703	0.181000	0.16691	-0.473000	0.08966	0.589000	0.31548	0.847000	0.30396	0.009000	0.19889	0.994000	0.71098	0.4866:0.3958:0.1175:0.0	8.929	0.34817	415	0.81806	MHC class I-like antigen recognition-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	1689.14	85	chr20	35176182	.	C	T	1689.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.39;DP=459;ExcessHet=0.2348;FS=2.109;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.556;SOR=0.91	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1097	8	0	2	0
chr20	35292083	35292083	G	T	exonic	FAM83C	.	nonsynonymous SNV	FAM83C:NM_178468:exon1:c.C222A:p.S74R	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.0474957519034	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs765952343	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000008	0.62929	D	0.111153	0.999953	0.52396	D	3.28	0.90206	M	2.07	0.20387	T	-3.64	0.69835	D	0.907	0.90818	-0.8678	0.50694	T	0.112	0.40122	T	10	0.9058217	0.89946	D	0.047496	0.62947	D	0.386	0.70276	0.747	0.87821	0.420322003156	0.41653	0.875719911811397	0.87538	0.784736392748	0.65455	0.777630150318	0.78570	T	0.330679	0.70084	T	0.174948	0.71576	D	0.0135245	0.71209	D	0.993661165237427	0.84556	D	0.861114	0.55479	D	0.80355537	0.84134	0.58570075	0.75974	0.80355537	0.84135	0.58570075	0.75975	-11.57	0.82694	D	.	.	0.979	0.90850	P	.	.	1.457709	0.18799	13.93	0.9973214125078147	0.82833	0.75388	0.36909	D	AEFDGBI	0.368904	0.45583	N	0.0437655219497603	0.43856	2.670458	-0.162267439950465	0.32938	1.879024	0.999999468966061	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.38	-5.42	0.02434	-0.175000	0.09816	-3.064000	0.03093	-0.103000	0.15852	0.369000	0.25916	0.000000	0.08366	0.978000	0.57271	0.2324:0.0:0.6644:0.1032	10.658	0.44882	417	0.81662	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1062.43	35	chr20	35292083	.	G	T	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=0.301;SOR=0.732	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1346	9	0	1	0
chr20	35466182	35466182	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_007186:exon7:c.G470A:p.S157N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0195907131719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.91e-07	6.842e-07	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.65419	D	0.01	0.72224	D	0.992	0.64738	D	0.948	0.68536	D	0.000307	0.00561	N	3.758110	0.813624	0.28970	N	1.995	0.54099	M	2.85	0.45248	T	-2.39	0.53258	N	0.511	0.54234	-0.7573	0.57551	T	0.292	0.66412	T	10	0.2783443	0.45404	T	0.019591	0.41992	T	0.169	0.43123	0.193	0.10437	0.567064501529	0.56369	0.22593691439536634	0.22508	0.599782747456	0.55084	0.560197114944	0.47296	T	0.036943	0.32516	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.825030370843214	0.48148	D	0.846915	0.53996	T	0.25235692	0.48250	0.25757244	0.51476	0.25235692	0.48250	0.25757244	0.51476	-3.977	0.23458	T	.	.	0.117	0.38190	B	.;.;.;.	.;.;.;.	3.983217	0.58568	24.0	0.99526756370572023	0.69591	0.82463	0.41687	D	AEFDBHCIJ	0.307806	0.41457	N	0.668227390081113	0.77553	6.696854	0.659302106035942	0.79307	7.054434	0.999998318439002	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.827000	0.47813	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.930	0.86057	516	0.74704	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	102.04	83	chr20	35466182	.	G	A	102.04	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.649;DP=602;ExcessHet=0;FS=65.711;InbreedingCoeff=-0.129;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.194;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1170:.	7	0	1	2
chr20	35502836	35502836	A	C	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_001318219:exon28:c.A2571C:p.L857F,CEP250:NM_007186:exon30:c.A4467C:p.L1489F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00752142283249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.096	0.39340	T	1.0	0.90584	D	0.989	0.78396	D	0.011142	0.29642	N	0.155351	0.807295	0.29043	N	2.565	0.75005	M	2.43	0.15261	T	-1.77	0.41809	N	0.433	0.47208	-1.0144	0.25529	T	0.100	0.37188	T	10	0.2367337	0.40761	T	0.007521	0.19952	T	0.139	0.37390	0.125	0.03095	0.400468435593	0.39662	0.15356438576931045	0.15278	0.645859863428	0.58019	0.43829870224	0.30345	T	0.180427	0.53176	T	-0.11559	0.33847	T	-0.403814	0.32940	T	0.746341228485107	0.43082	D	0.856614	0.54540	D	0.11465619	0.27066	0.15646935	0.36632	0.11465619	0.27066	0.15646935	0.36631	-8.034	0.61302	D	.	.	0.436	0.61526	A	.	.	2.425465	0.31191	18.67	0.99811450715218619	0.89531	0.69781	0.34324	D	AEFDGBCI	0.098271	0.19805	N	0.162468476385509	0.49403	3.141174	0.00896944213053262	0.40131	2.390101	0.999982042497605	0.51787	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	0.972	0.18824	0.007000	0.13074	0.108000	0.14741	0.756000	0.94297	0.000000	0.06391	0.120000	0.22892	0.995000	0.73285	0.755:0.0:0.245:0.0	8.34	0.31400	549	0.72275	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	31.43	35	chr20	35502836	.	A	C	31.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.786;DP=642;ExcessHet=0;FS=261.038;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=2.75;SOR=8.349	GT:AD:DP:GQ:PL	0/0:128,35:163:51:0,51,2587	9	0	1	0
chr20	35618119	35618119	C	T	exonic	SPAG4	.	nonsynonymous SNV	SPAG4:NM_001317931:exon5:c.C340T:p.P114S,SPAG4:NM_003116:exon5:c.C571T:p.P191S	.	430	1046	43	3	0	49	0.0228865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0006	0.0105831	0.0054	9.846e-05	0.0009	0.0001	0	0.0009	0.0078	0.0353	0.0047412	733	154602	rs140056855	0.0027	0.0027	0.0017	0.0037	0.0329	0.0026	0.0026	0.0319	0.0315	0.0003	0.0008	0.0021	0.0001	3.744e-05	0.0106	0.0007	0.0033	0.0329	0.0020	0.0020	0.0016	0.0024	0.0397	0.0018	0.0017	0.0351	0.0333	0.0002	0	0.0017	0.0026	0.0008	0	0.0034	0.0008	0.0033	0.0397	0.047	0.50676	D	0.196	0.27943	T	0.483	0.36807	P	0.122	0.32387	B	0.009356	0.30401	N	0.272384	0.543505	0.31393	N	1.87	0.49600	L	2.3	0.21119	T	-0.88	0.28497	N	0.344	0.38541	-1.0369	0.18264	T	0.044	0.18906	T	10	0.002945125	0.00048	T	.	.	.	0.022	0.04323	.	.	0.43965937752	0.43585	0.6364650575286341	0.63580	0.678647379448	0.59893	0.366997569799	0.20400	T	0.023422	0.17879	T	-0.549546	0.00293	T	-0.537094	0.18583	T	0.00899036296490133	0.00112	T	0.775222	0.40690	T	0.0676733	0.14677	0.08424283	0.19364	0.0676733	0.14676	0.08424283	0.19364	-3.227	0.12813	T	.	.	0.130	0.27762	B	.;.	.;.	2.679779	0.34951	19.77	0.9933598505083997	0.59973	0.67838	0.33579	D	AEFDBCI	0.197722	0.32462	N	-0.0592127924215001	0.39192	2.307264	-0.00617359354353439	0.39435	2.338182	0.99999398983417	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.619478	0.44681	0	0.627883	0.49187	0	.	.	4.14	3.2	0.35826	0.996000	0.29320	1.925000	0.29735	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.861000	0.40843	0.0:0.8882:0.0:0.1118	7.767	0.28147	472	0.77968	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.034091	0.05	823.43	34	chr20	35618119	.	C	T	823.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=425;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.49;ReadPosRankSum=-1.553;SOR=0.718	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr20	35631561	35631561	A	C	exonic	CPNE1	.	stopgain	CPNE1:NM_001198863:exon8:c.T645G:p.Y215X,CPNE1:NM_003915:exon8:c.T660G:p.Y220X,CPNE1:NM_152925:exon8:c.T645G:p.Y215X,CPNE1:NM_152926:exon8:c.T645G:p.Y215X,CPNE1:NM_152927:exon9:c.T645G:p.Y215X,CPNE1:NM_152928:exon9:c.T645G:p.Y215X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0001	0	0	0.0019	0	0	0	6.065e-05	0.0001294	20	154602	rs200788892	6.567e-05	6.567e-05	7.351e-05	5.776e-05	0.0019	5.495e-05	5.107e-05	0.0016	0.0014	0	0	0	0.0019	0	0	9.892e-06	0.0001	2.319e-05	6.568e-05	6.562e-05	3.856e-05	9.403e-05	0.0017	3.515e-05	2.615e-05	0.0009	0.0007	0	0	0	0	0.0017	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.306613	0.14506	U	0.655241	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.211	0.23506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274299	0.80821	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.	7.739637	0.96815	36	0.99372369576823516	0.61498	0.96254	0.68247	D	AEFDBI	0.340290	0.43716	N	0.465468652399849	0.65087	4.778449	0.321348900804571	0.56798	3.84355	0.946543961419194	0.27711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	4.34	0.51267	0.586000	0.23596	3.050000	0.36117	-0.054000	0.16847	0.996000	0.39380	1.000000	0.68203	0.883000	0.42306	0.9269:0.0:0.0731:0.0	11.045	0.47070	378	0.83833	C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|Copine, C2B domain;C2 domain|C2 domain|C2 domain|Copine, C2B domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2332.43	33	chr20	35631561	.	A	C	2332.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=810;ExcessHet=0;FS=1.153;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.743;SOR=0.79	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	9	0	1	0
chr20	35871784	35871784	C	T	exonic	PHF20	.	nonsynonymous SNV	PHF20:NM_016436:exon9:c.C1237T:p.P413S	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00694927272575	0.0018	0.000599042	0.0021	0.0006	0.0016	0	0.0008	0.0027	0	0.0027	0.0019211	297	154602	rs140335933	0.0021	0.0021	0.0021	0.0022	0.0034	0.0021	0.0021	0.0023	0.0023	0.0003	0.0012	0.0015	2.521e-05	0.0007	0.0034	0.0024	0.0019	0.0021	0.0017	0.0017	0.0018	0.0015	0.0031	0.0015	0.0014	0.0025	0.0023	0.0004	0	0.0012	0.0006	0	0.0008	0	0.0028	0.0014	0.0031	0.437	0.09346	T	0.181	0.29346	T	0.01	0.15535	B	0.003	0.08700	B	0.001888	0.37740	N	0.292692	0.999069	0.25002	N	0.66	0.16226	N	1.53	0.44065	T	-1.11	0.28703	N	0.067	0.03956	-1.0360	0.18544	T	0.060	0.25127	T	10	0.003222257	0.00055	T	0.006949	0.18402	T	0.045	0.12272	.	.	0.165150595986	0.16160	0.2653063739811397	0.26443	0.378267525345	0.39244	0.312146902084	0.12232	T	0.014831	0.16353	T	-0.606424	0.00133	T	-0.644383	0.09352	T	0.00281218120764695	0.00029	T	0.649435	0.26018	T	0.02803875	0.02083	0.032952335	0.02112	0.026072677	0.01619	0.032077566	0.01888	-5.219	0.39134	T	.	.	0.074	0.09578	B	.;.;.	.;.;.	-0.093010	0.03683	0.746	0.75157669595966303	0.10967	0.12199	0.17121	N	AEFDGBCI	0.045914	0.07563	N	-1.18060625361538	0.05293	0.2409741	-1.068211244877	0.08332	0.4091928	0.999999965480229	0.74766	0.730579	0.87903	0	0.743671	0.97443	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.56	3.58	0.40133	0.172000	0.16518	0.110000	0.14769	-0.223000	0.07921	0.157000	0.23755	0.005000	0.19230	0.231000	0.22761	0.1396:0.727:0.1334:0.0	11.501	0.49689	482	0.77288	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.000000	0.004076	0.002924	0.000000	0.017241	0.006098	0.003788	0.05	698.43	33	chr20	35871784	.	C	T	698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.151;DP=376;ExcessHet=0;FS=0.959;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.491;SOR=0.487	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1081	9	0	1	0
chr20	36194248	36194248	A	G	exonic	EPB41L1	.	nonsynonymous SNV	EPB41L1:NM_001258331:exon12:c.A1151G:p.H384R,EPB41L1:NM_012156:exon12:c.A1337G:p.H446R,EPB41L1:NM_177996:exon12:c.A1151G:p.H384R,EPB41L1:NM_001258329:exon13:c.A1337G:p.H446R,EPB41L1:NM_001258330:exon13:c.A1244G:p.H415R	.	2	1513	7	0	0	7	0.00230795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0404690956435	.	0.000199681	0.0001	0	8.667e-05	0	0	0.0002	0	0.0001	0.0001423	22	154602	rs146290051	0.0002	0.0002	0.0002	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0	0.0002	0	0	0	0.0014	0.0002	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0006	0.0005	4.81e-05	0	0.0010	0	0	9.416e-05	0	0.0004	0	0	0.09	0.32769	T	0.386	0.41573	T	0.028	0.35330	B	0.113	0.31689	B	0.015451	0.28243	N	0.361835	0.99965	0.49076	D	0.975	0.24501	L	-1.78	0.83737	D	-3.47	0.72594	D	0.514	0.66615	-0.8816	0.49634	T	0.178	0.52427	T	10	0.17512906	0.32428	T	0.040469	0.59392	D	0.437	0.74164	.	.	0.780670533003	0.77865	0.6969529906183726	0.69636	0.35008633747	0.36853	0.786837279797	0.79961	T	0.513182	0.82830	D	-0.104784	0.35630	T	-0.0893549	0.64211	T	0.109602059284025	0.13382	T	0.950405	0.81010	D	0.21239404	0.43590	0.23384911	0.48585	0.21239404	0.43590	0.23384911	0.48584	-12.52	0.87359	D	0.4096263329378928	0.50014	0.139	0.45433	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.728778	0.53327	23.3	0.9961841015902585	0.75233	0.98484	0.83265	D	AEFDGBI	0.894704	0.83397	D	0.20940360482903	0.51653	3.345018	0.285404094228598	0.54686	3.632893	0.999877963024941	0.44625	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.755437	0.99637	0	.	.	5.35	5.35	0.76297	7.380000	0.78983	11.216000	0.89583	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.275000	0.23893	1.0:0.0:0.0:0.0	14.519	0.67426	695	0.58372	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	958.43	38	chr20	36194248	.	A	G	958.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.043;DP=414;ExcessHet=0;FS=1.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.22;ReadPosRankSum=-0.026;SOR=0.89	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	9	0	1	0
chr20	36446779	36446779	C	T	exonic	DLGAP4	.	nonsynonymous SNV	DLGAP4:NM_001365621:exon7:c.C1490T:p.T497M,DLGAP4:NM_014902:exon7:c.C1490T:p.T497M	.	432	1082	8	0	0	8	0.00368324	.	.	.	2286454	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.357	0.0920834244022	0.0002	0.000199681	0.0002	0	0.0004	0	0	0.0003	0	0.0001	0.000207	32	154602	rs192489219	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0046	0.0041	0.0002	0.0006	0	0	0	0.0062	0.0002	0.0005	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	9.695e-05	0.0002	0.0001	7.216e-05	0	0.0004	0	0	0	0.0034	0.0002	0	0.0002	0.003	0.72154	D	0.071	0.44106	T	0.008	0.14655	B	0.003	0.08700	B	0.007455	0.31390	N	0.365553	0.997501	0.22632	N	-0.895	0.01383	N	-2.51	0.89293	D	-0.89	0.24460	N	0.254	0.28732	-0.6641	0.62095	T	0.306	0.67685	T	10	0.04709211	0.03983	T	0.092083	0.75825	D	0.357	0.67782	.	.	0.708804461636	0.70626	0.2868838773768702	0.28601	0.560121123074	0.52549	0.361344277859	0.19581	T	0.031847	0.22228	T	-0.173202	0.24752	T	-0.152419	0.59029	T	0.047667719182149	0.05085	T	0.948505	0.80194	D	0.063621186	0.13416	0.06806646	0.14166	0.063621186	0.13416	0.06806646	0.14166	-6.585	0.51388	T	.	.	0.087	0.14568	B	.;.;.;.	.;.;.;.	3.020568	0.40428	21.2	0.98711629417181601	0.45069	0.66660	0.33155	D	AEFDGBCI	0.178844	0.30612	N	-0.519810980954055	0.21440	1.137831	-0.314450779623496	0.27632	1.534635	0.998803929957331	0.37711	0.643511	0.44296	0	0.610034	0.51514	0	0.688494	0.62686	0	0.542086	0.14980	0	.	.	5.66	3.53	0.39533	2.247000	0.42803	4.002000	0.41083	0.599000	0.40250	0.975000	0.34726	1.000000	0.68203	0.624000	0.32000	0.0:0.7098:0.0:0.2902	6.841	0.23145	564	0.70960	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.008152	0.011696	0.000000	0.008621	0.003049	0.000000	0.05	951.43	69	chr20	36446779	.	C	T	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.559;DP=381;ExcessHet=0;FS=6.381;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-1.649;SOR=0.772	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1289	9	0	1	0
chr20	36815796	36815796	G	A	exonic	SOGA1	.	nonsynonymous SNV	SOGA1:NM_080627:exon5:c.C1646T:p.S549L,SOGA1:NM_199181:exon5:c.C932T:p.S311L	.	.	.	.	.	.	.	.	.	.	.	3394523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.00542887412588	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs572779614	3.474e-06	4.104e-06	1.379e-06	5.601e-06	1.204e-05	1.02e-06	7.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.632e-06	0	1.204e-05	2.626e-05	3.281e-05	0	5.371e-05	0.0002	8.14e-06	5.14e-06	.	.	2.406e-05	0	0	0	0.0002	9.414e-05	0	1.47e-05	0	0	0.334	0.12961	T	0.207	0.26969	T	.	.	.	.	.	.	0.013209	0.28915	N	0.364375	0.999911	0.51042	D	.	.	.	2.15	0.19311	T	-0.9	0.24244	N	0.332	0.38950	-1.0906	0.05433	T	0.048	0.20315	T	10	0.07611668	0.11850	T	0.005429	0.13954	T	0.052	0.14661	0.16	0.06396	0.0675242888579	0.06100	0.4752420899660029	0.47443	1.18552487391	0.80133	0.477685570717	0.35738	T	0.030449	0.21583	T	-0.134721	0.30735	T	-0.431294	0.29788	T	0.852333664894104	0.50368	D	0.824517	0.48627	T	.	.	.	.	.	.	.	.	-5.386	0.40785	T	.	.	0.115	0.23883	B	.;.	.;.	4.943830	0.81613	27.6	0.99852823042034478	0.93191	0.90438	0.51614	D	AEFGBHCI	0.553840	0.56493	D	-0.0498756851220142	0.39607	2.338488	0.122349009304703	0.45695	2.828063	0.999999999633384	0.74766	0.631981	0.41245	0	0.653731	0.59785	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.09	5.09	0.68647	4.962000	0.63395	8.670000	0.78005	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.420	0.87404	783	0.47268	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1431.43	35	chr20	36815796	.	G	A	1431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.689;DP=455;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.33;SOR=0.79	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr20	36876199	36876219	ACTCGGCTGGTAAGGGTTCCA	-	exonic	TLDC2	.	nonframeshift deletion	TLDC2:NM_001304783:exon1:c.25_33del:p.T9_L11del,TLDC2:NM_080628:exon1:c.25_33del:p.T9_L11del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	613.39	62	chr20	36876198	.	CACTCGGCTGGTAAGGGTTCCA	C	613.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=376;ExcessHet=0;FS=1.063;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.503;SOR=0.914	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1126	9	0	1	0
chr20	37007453	37007453	C	G	exonic	RBL1	.	nonsynonymous SNV	RBL1:NM_001323281:exon19:c.G1548C:p.K516N,RBL1:NM_001323282:exon20:c.G1548C:p.K516N,RBL1:NM_002895:exon20:c.G2829C:p.K943N,RBL1:NM_183404:exon20:c.G2829C:p.K943N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.645	0.0858146876721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	2.269e-05	7.792e-05	7.702e-05	3.801e-05	0	0.0003	0.0002	7.038e-05	6.586e-06	6.573e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	9.495e-05	0	0	0	0	0.002	0.72154	D	0.005	0.72224	D	0.738	0.48822	P	0.765	0.56630	P	0.000005	0.62929	D	0.104648	0.973806	0.39053	D	3.28	0.90206	M	-3.12	0.92774	D	-3.34	0.66325	D	0.708	0.71143	0.840	0.94902	D	0.839	0.94628	D	10	0.8987119	0.89228	D	0.085815	0.74611	D	0.645	0.86536	0.835	0.94294	0.945463439951	0.94489	0.6022124185921854	0.60152	0.625094447251	0.56694	0.728086709976	0.71226	T	0.758	0.93414	D	0.118849	0.66256	D	-0.0670579	0.65836	T	0.990135967731476	0.80349	D	0.882912	0.61284	D	0.88073915	0.89727	0.67431754	0.80880	0.88073915	0.89729	0.67431754	0.80881	-10.734	0.78179	D	.	.	0.883	0.81684	P	.;.	.;.	3.686440	0.52496	23.2	0.9987577306951968	0.95244	0.83174	0.42314	D	AEFBI	0.222942	0.34736	N	0.416761997621375	0.62342	4.448737	0.369751200552894	0.59705	4.150779	0.977451831980098	0.29823	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.29	3.32	0.37134	0.426000	0.21081	0.386000	0.17834	0.446000	0.21189	0.998000	0.41325	0.994000	0.32194	0.992000	0.67800	0.0:0.7242:0.0:0.2758	9.678	0.39217	793	0.45818	Retinoblastoma-associated protein, B-box;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	181.73	133	chr20	37007453	.	C	G	181.73	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.577;DP=634;ExcessHet=0.2348;FS=158.382;InbreedingCoeff=-0.1043;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=2.37;SOR=7.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1064	8	0	2	0
chr20	37112363	37112363	G	A	exonic	MROH8	.	unknown	UNKNOWN	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0002	.	0.0004	0	0	0	0.0017	0.0004	0.0034	0.0002	0.0002975	46	154602	rs200835735	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0	0	0.0010	0	0.0009	0.0009	0.0001	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0001	2.404e-05	0	0	0.0006	0	0.0013	0	0.0002	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.000000	0.05	2212.43	38	chr20	37112363	.	G	A	2212.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.052;DP=540;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=-0.2;SOR=0.718	GT:AD:DP:GQ:PL	0/1:105,100:205:99:2224,0,2344	9	0	1	0
chr20	37155121	37155121	C	T	exonic	MROH8	.	unknown	UNKNOWN	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0158731169405	.	0.000199681	7.454e-05	0	0.0003	0	0	5.995e-05	0	0.0001	6.47e-05	10	154602	rs186733407	3.785e-05	3.147e-05	3.425e-05	4.151e-05	0.0002	2.901e-05	2.595e-05	0.0002	0.0001	0	0.0002	0	0	0	0.0002	1.887e-05	2.273e-05	0.0002	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0002	1.714e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0	0	0	0	5.881e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.613	0.51171	P	0.001250	0.39669	N	0.173435	0.762118	0.34051	D	.	.	.	3.39	0.05710	T	-3.2	0.64710	D	0.568	0.59138	-0.9679	0.37632	T	0.052	0.22269	T	10	0.23239979	0.40235	T	0.015873	0.36838	T	0.135	0.36572	.	.	0.104622674875	0.10061	.	.	.	.	0.257571160793	0.04606	T	.	.	.	-0.34118	0.05306	T	-0.443145	0.28456	T	0.823643505573273	0.48045	D	0.747925	0.36851	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.793129	0.54605	23.5	0.99932779221440138	0.99439	0.50569	0.28693	D	AEFDBHCI	0.249846	0.37000	N	0.43490081598097	0.63353	4.567301	0.364219806103615	0.59370	4.114124	0.999999999722781	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.57	4.6	0.56512	1.341000	0.33512	1.232000	0.25050	0.587000	0.30956	0.980000	0.35271	0.558000	0.25505	0.448000	0.27851	0.1745:0.8255:0.0:0.0	11.870	0.51795	342	0.85871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1336.43	36	chr20	37155121	.	C	T	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.978;DP=466;ExcessHet=0;FS=2.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=1.07;SOR=0.87	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1348,0,1252	9	0	1	0
chr20	38013069	38013069	C	T	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.G748A:p.E250K,TTI1:NM_014657:exon3:c.G748A:p.E250K	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00336407576799	0.0006	0.000399361	0.0004	9.615e-05	0.0007	0	0	0.0005	0.0011	6.058e-05	0.0003234	50	154602	rs141259940	0.0003	0.0003	0.0003	0.0003	0.0099	0.0003	0.0003	0.0078	0.0071	5.974e-05	0.0008	0.0004	0	1.873e-05	0.0099	0.0003	0.0006	0.0001	0.0004	0.0004	0.0005	0.0002	0.0007	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0007	0.0003	0	0	0.0034	0.0005	0.0014	0.0002	0.172	0.22660	T	0.533	0.10000	T	0.029	0.19866	B	0.027	0.21085	B	0.000224	0.47286	D	0.217463	0.999998	0.58761	D	1.465	0.36909	L	2.52	0.14160	T	-0.53	0.16393	N	0.144	0.14763	-1.0907	0.05416	T	0.038	0.16462	T	10	0.031507134	0.01286	T	0.003364	0.07512	T	0.064	0.18567	.	.	0.137902524267	0.13322	0.10473473503551949	0.10403	0.157839969041	0.17827	0.35806876421	0.19103	T	0.020634	0.16209	T	-0.464436	0.00922	T	-0.539607	0.18335	T	0.0180308031794487	0.00527	T	0.823018	0.48339	T	0.10643759	0.25167	0.14009862	0.33406	0.10643759	0.25167	0.14009862	0.33405	-5.758	0.44207	T	.	.	0.077	0.06617	B	.;.;.	.;.;.	2.678104	0.34927	19.76	0.99580328912059857	0.72980	0.98408	0.82470	D	AEFBI	.	.	.	0.0348028192118154	0.43443	2.637204	0.208208073737026	0.50303	3.223731	0.999978442099445	0.50053	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.45	5.45	0.79688	4.317000	0.58976	3.360000	0.37852	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.997000	0.79791	0.0:0.9247:0.0:0.0753	13.713	0.62163	749	0.51929	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.030303	0.008152	0.017544	0.000000	0.017241	0.000000	0.000000	0.05	2284.43	36	chr20	38013069	.	C	T	2284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.375;DP=513;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=0.903;SOR=0.776	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	9	0	1	0
chr20	38217470	38217470	T	C	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001348708:exon11:c.A1637G:p.Q546R,KIAA1755:NM_001029864:exon13:c.A2684G:p.Q895R	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0171885190791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.11050	T	0.317	0.48336	T	0.993	0.65571	D	0.968	0.71741	D	0.010258	0.30003	N	0.156990	0.607522	0.32592	D	2.085	0.57729	M	3.31	0.32958	T	-1.48	0.45769	N	0.198	0.21839	-0.8716	0.50409	T	0.126	0.43215	T	10	0.2242235	0.39220	T	0.017189	0.38787	T	0.133	0.36157	0.588	0.71623	0.291694819147	0.28783	0.3587403364864136	0.35788	0.282776195037	0.30734	0.428021550179	0.28939	T	0.003978	0.03393	T	-0.089147	0.38219	T	-0.36583	0.37376	T	0.784741580486298	0.45348	D	0.719228	0.33234	T	0.17231338	0.37915	0.17899276	0.40605	0.17231338	0.37915	0.17899276	0.40604	-6.033	0.46555	T	.	.	0.164	0.36214	B	.;.	.;.	3.817311	0.55095	23.6	0.91030810367990456	0.20281	0.60763	0.31289	D	AEFDGBCI	0.405866	0.47858	N	0.172211271403261	0.49867	3.182507	0.215775595982425	0.50722	3.261313	0.999999999214188	0.74766	0.600919	0.35232	0	0.59043	0.45803	0	0.478664	0.07449	1	0.620204	0.46100	0	.	.	4.59	4.59	0.56297	1.136000	0.31079	4.867000	0.45528	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	10.282	0.42728	895	0.25842	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	328.43	41	chr20	38217470	.	T	C	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.858;SOR=0.941	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,715	9	0	1	0
chr20	38239704	38239704	G	A	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001029864:exon4:c.C1571T:p.T524I,KIAA1755:NM_001348708:exon4:c.C728T:p.T243I	.	426	1075	21	0	0	21	0.00967296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0060	0.00239617	0.0067	0.0016	0.0041	0.0001	0.0009	0.0097	0.0112	0.0049	0.0069339	1072	154602	rs11699859	0.0086	0.0086	0.0087	0.0086	0.0231	0.0085	0.0084	0.0199	0.0187	0.0021	0.0048	0.0250	5.038e-05	0.0012	0.0231	0.0095	0.0090	0.0042	0.0061	0.0061	0.0064	0.0057	0.0091	0.0057	0.0056	0.0085	0.0083	0.0017	0	0.0058	0.0239	0	0.0004	0.0238	0.0091	0.0142	0.0046	0.262	0.16466	T	0.534	0.11263	T	0.998	0.73220	D	0.994	0.82059	D	0.015797	0.28151	N	0.252227	0.730195	0.29837	N	1.67	0.42885	L	3.37	0.05847	T	-1.64	0.39314	N	0.238	0.26837	-1.1234	0.02127	T	0.025	0.10553	T	10	0.0070616305	0.00160	T	.	.	.	0.059	0.16972	.	.	0.345859378078	0.34197	0.3229361013259496	0.32206	0.233706323324	0.25904	0.442297697067	0.30891	T	0.003369	0.02778	T	-0.5648	0.00238	T	-0.573041	0.15172	T	0.0375556806196899	0.03253	T	0.645335	0.25688	T	0.074009895	0.16579	0.094342776	0.22328	0.074009895	0.16579	0.094342776	0.22327	-5.189	0.38830	T	.	.	0.173	0.37932	B	.;.	.;.	4.250465	0.64514	24.7	0.87617255068720179	0.17357	0.74879	0.36642	D	AEFDBIJ	0.298890	0.40808	N	0.401004633049871	0.61479	4.349444	0.362794296047759	0.59280	4.104712	0.061314928042297	0.15227	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	4.43	3.48	0.38946	3.181000	0.50603	5.503000	0.48778	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.730000	0.35099	0.1125:0.0:0.8875:0.0	7.662	0.27573	898	0.25240	.;.	.	.	KIAA1755	Artery_Aorta	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017623	0.000000	0.023098	0.029240	0.050000	0.017241	0.024390	0.007576	0.05	629.43	34	chr20	38239704	.	G	A	629.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.534;DP=402;ExcessHet=0;FS=3.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=-0.709;SOR=0.839	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,120,1800	9	0	1	0
chr20	38323873	38323873	G	T	exonic	BPI	.	stopgain	BPI:NM_001725:exon8:c.G760T:p.E254X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001469	0.38917	N	0.171726	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.937	0.94314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46401	0.93096	D	0.428742	0.93010	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.	.;High;.	9.101139	0.98465	39	0.99677304822373658	0.78977	0.88753	0.48832	D	AEFBI	0.062758	0.12083	N	0.60852027448495	0.73713	6.011273	0.32615941176597	0.57082	3.872807	0.0109280259917912	0.12103	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.46	2.29	0.27658	2.670000	0.46499	3.642000	0.39350	0.654000	0.53741	0.997000	0.40164	1.000000	0.68203	0.121000	0.19209	0.0:0.3203:0.6797:0.0	12.466	0.55101	833	0.38804	Lipid-binding serum glycoprotein, C-terminal;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, N-terminal;Lipid-binding serum glycoprotein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1876.43	35	chr20	38323873	.	G	T	1876.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.355;DP=471;ExcessHet=0;FS=0.661;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.651;SOR=0.784	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1266	9	0	1	0
chr20	38497424	38497424	A	G	exonic	RALGAPB	.	nonsynonymous SNV	RALGAPB:NM_001282917:exon4:c.A461G:p.E154G,RALGAPB:NM_001282918:exon4:c.A461G:p.E154G,RALGAPB:NM_020336:exon4:c.A461G:p.E154G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0347406351716	0.0002	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376920561	1.095e-05	1.095e-05	1.089e-05	1.1e-05	1.439e-05	6.48e-06	5.25e-06	8.52e-06	6.89e-06	0	0	0	0	0	0	1.439e-05	0	0	3.287e-05	3.284e-05	6.426e-05	0	5.882e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	2.414e-05	0	0	0	0	0	0	5.882e-05	0	0	0.494	0.07895	T	0.411	0.14500	T	0.447	0.36006	B	0.168	0.35187	B	0.000002	0.62929	D	0.100373	1	0.81001	D	1.39	0.34934	L	-0.07	0.63738	T	-1.92	0.44657	N	0.674	0.68690	-0.7859	0.55967	T	0.212	0.57321	T	10	0.46004295	0.59228	T	0.034741	0.55878	D	0.253	0.56294	.	.	0.15499578495	0.15088	0.380808061166969	0.37995	1.03285227811	0.75478	0.6066583395	0.53844	T	0.054125	0.29635	T	0.0640633	0.60119	T	-0.130268	0.60949	T	0.77552193403244	0.44774	D	0.931907	0.74605	D	0.17901613	0.38952	0.15158099	0.35700	0.17901613	0.38951	0.15158099	0.35699	-9.597	0.71461	D	.	.	0.313	0.53989	B	.;.;.	.;.;.	4.538655	0.71321	25.7	0.99791897088501891	0.87750	0.99570	0.97553	D	AEFDBIJ	0.854658	0.77170	D	0.295297329439441	0.55911	3.755122	0.417932989800249	0.62682	4.487785	0.999999997091574	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.32	5.32	0.75377	9.078000	0.93430	11.194000	0.88775	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.319	0.73814	855	0.34697	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	219.23	35	chr20	38497424	.	A	G	219.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.636;DP=796;ExcessHet=0.2348;FS=147.349;InbreedingCoeff=-0.1154;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.324;SOR=10.087	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	8	0	2	0
chr20	38771731	38771731	C	T	exonic	ACTR5	.	nonsynonymous SNV	ACTR5:NM_024855:exon9:c.C1739T:p.P580L	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	.	7.7e-05	0.00199681	0.0014	0	0	0.0157	0.0014	0.0001	0	0.0009	0.0011902	184	154602	rs3752289	0.0006	0.0006	0.0005	0.0006	0.0148	0.0005	0.0005	0.0138	0.0134	8.961e-05	4.472e-05	0	0.0148	0.0009	0	5.396e-05	0.0006	0.0010	0.0006	0.0006	0.0004	0.0008	0.0118	0.0005	0.0005	0.0094	0.0086	0	0	0	0	0.0118	0.0008	0	0.0002	0.0005	0.0019	0.004	0.65419	D	0.012	0.63918	D	0.968	0.56581	D	0.146	0.33945	B	0.000023	0.55875	D	0.157530	1	0.81001	D	1.04	0.26193	L	-3.9	0.96015	D	-3.08	0.63323	D	0.341	0.38232	0.494	0.90464	D	0.654	0.87954	D	10	0.007787645	0.00177	T	.	.	.	0.541	0.80842	.	.	0.934926559485	0.93426	0.33475801111339004	0.33388	0.153210047844	0.17289	0.546360373497	0.45343	T	0.111958	0.42786	T	-0.0204343	0.48792	T	0.210195	0.83675	D	0.114955383540869	0.13929	T	0.907609	0.67324	D	0.1081381	0.25570	0.11855706	0.28619	0.1081381	0.25570	0.11855706	0.28618	-8.394	0.63725	D	.	.	0.174	0.38080	B	.	.	4.381918	0.67552	25.1	0.99767552247958691	0.85583	0.98952	0.89087	D	AEFDGBI	0.339297	0.43649	N	0.390557994975293	0.60910	4.285342	0.499078847247196	0.67927	5.150364	0.999999999961335	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.95	5.95	0.96415	3.924000	0.56191	7.633000	0.62825	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	20.393	0.98950	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1027.43	34	chr20	38771731	.	C	T	1027.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=413;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-1.568;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1136	9	0	1	0
chr20	39038505	39038505	T	C	exonic	DHX35	.	nonsynonymous SNV	DHX35:NM_001190809:exon21:c.T1981C:p.S661P,DHX35:NM_021931:exon22:c.T2074C:p.S692P	.	427	1069	25	1	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	0.0070	0.00758786	0.0092	0.0020	0.0032	0.0002	0.0048	0.0092	0.0056	0.0246	0.0088227	1364	154602	rs146274322	0.0085	0.0085	0.0079	0.0092	0.0229	0.0084	0.0084	0.0221	0.0218	0.0014	0.0036	0.0085	0.0001	0.0060	0.0120	0.0082	0.0088	0.0229	0.0063	0.0063	0.0064	0.0061	0.0225	0.0059	0.0058	0.0191	0.0178	0.0015	0	0.0051	0.0124	0.0002	0.0041	0.0102	0.0089	0.0028	0.0225	0.025	0.48186	D	0.083	0.41405	T	0.915	0.50599	P	0.255	0.39216	B	0.028481	0.25594	N	0.436440	0.999924	0.58761	D	1.875	0.49914	L	4.02	0.32958	T	-0.82	0.34198	N	0.288	0.32591	-1.0733	0.08702	T	0.071	0.28773	T	10	0.0060763657	0.00137	T	.	.	.	0.145	0.38592	.	.	0.519675384768	0.51611	0.44099468402265024	0.44016	0.313503313738	0.33640	0.624079525471	0.56304	T	0.007988	0.07355	T	-0.175356	0.24431	T	-0.00573911	0.69964	D	0.0229375191028442	0.01015	T	0.810219	0.47570	T	0.1994504	0.41885	0.21744236	0.46410	0.1994504	0.41885	0.21744236	0.46409	-4.734	0.33813	T	.	.	0.090	0.43088	B	.;.;.;.	.;.;.;.	3.976553	0.58430	24.0	0.99791260496374268	0.87661	0.96421	0.69056	D	AEFBI	0.670895	0.63782	D	0.426617905938296	0.62889	4.512632	0.482390742663397	0.66825	5.002606	0.999999186857235	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	5.077000	0.64249	7.808000	0.69345	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.0:1.0	13.358	0.60082	927	0.17636	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.008152	0.005848	0.050000	0.008621	0.012195	0.026515	0.05	1131.43	34	chr20	39038505	.	T	C	1131.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.895;SOR=0.668	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1153	9	0	1	0
chr20	41100210	41100210	T	C	exonic	TOP1	.	nonsynonymous SNV	TOP1:NM_003286:exon12:c.T1130C:p.I377T	DNA topoisomerase I, camptothecin-resistant (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574	0.0834407527716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.476e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	0.56	0.54540	T	-3.32	0.66085	D	0.82	0.81559	-0.0985	0.80132	T	0.396	0.74836	T	10	0.9008926	0.89450	D	0.083441	0.74116	D	0.574	0.82742	0.722	0.85673	0.540554013241	0.53707	0.9560339756758913	0.95588	2.80145084336	0.98906	0.859892368317	0.91094	D	0.433276	0.78076	T	0.277652	0.81115	D	0.161051	0.80870	D	0.990620062547804	0.80840	D	0.893211	0.63049	D	0.72673106	0.79539	0.6802238	0.81211	0.72673106	0.79541	0.6802238	0.81212	-7.188	0.55395	T	0.21552924678770424	0.28978	0.700	0.72976	P	.	.	4.638435	0.73819	26.1	0.99864711876054513	0.94276	0.99367	0.95101	D	AEFDBIJ	0.901728	0.84877	D	0.864122058876594	0.89897	10.16446	0.811333328112474	0.90570	10.46782	0.99999999931251	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.488	0.75314	921	0.19240	DNA topoisomerase I, DNA binding, eukaryotic-type|DNA topoisomerase I, eukaryotic-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	290.81	57	chr20	41100210	.	T	C	290.81	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.473;DP=484;ExcessHet=2.8389;FS=197.43;InbreedingCoeff=-0.3399;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.29;ReadPosRankSum=0.027;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,7:35:9:.:.:9,0,458:.	5	0	5	0
chr20	41162514	41162514	G	A	exonic	PLCG1	.	nonsynonymous SNV	PLCG1:NM_002660:exon5:c.G575A:p.R192H,PLCG1:NM_182811:exon5:c.G575A:p.R192H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0374315868944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.009	0.66756	D	0.999	0.77913	D	0.886	0.62898	P	0.000001	0.62929	D	0.053454	0.999999	0.58761	D	2.375	0.68372	M	-0.09	0.64086	T	-2.68	0.57275	D	0.746	0.74553	-0.2062	0.77511	T	0.383	0.73899	T	10	0.7169299	0.73408	D	0.037432	0.57615	D	0.253	0.56294	0.394	0.41935	0.62783058892	0.62479	0.36365517737326497	0.36279	.	.	0.844829797745	0.88831	D	0.740999	0.92826	D	0.0359171	0.56509	T	-0.186184	0.55947	T	0.981665074825287	0.74041	D	0.990021	0.96919	D	0.31748208	0.54426	0.21436276	0.45983	0.31748208	0.54426	0.21436276	0.45982	-10.441	0.76508	D	.	.	0.627	0.72173	P	.;.	.;.	5.265790	0.88415	29.6	0.99955013387638114	0.99969	0.96248	0.68218	D	AEFDBCI	0.790789	0.71957	D	0.669830720558076	0.77656	6.717055	0.653445403591647	0.78868	6.963554	0.999999997021225	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.96	4.96	0.65153	6.660000	0.74263	9.867000	0.82099	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.805	0.88508	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1488.43	38	chr20	41162514	.	G	A	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.325;DP=434;ExcessHet=0;FS=2.397;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=1.46;SOR=0.485	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1171	9	0	1	0
chr20	44051315	44051315	A	G	exonic	TOX2	.	nonsynonymous SNV	TOX2:NM_001098796:exon4:c.A295G:p.M99V,TOX2:NM_001098797:exon4:c.A421G:p.M141V,TOX2:NM_001098798:exon4:c.A448G:p.M150V,TOX2:NM_032883:exon5:c.A295G:p.M99V	.	424	1048	47	3	0	53	0.0246626	.	.	.	705498	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.132	.	0.0048	0.00539137	0.0069	0.0017	0.0062	0.0030	0.0015	0.0085	0.0164	0.0079	0.0064682	1000	154602	rs41279272	0.0061	0.0061	0.0059	0.0063	0.0340	0.0060	0.0060	0.0301	0.0286	0.0011	0.0066	0.0385	0.0021	0.0014	0.0340	0.0055	0.0091	0.0070	0.0057	0.0057	0.0058	0.0056	0.0070	0.0054	0.0053	0.0065	0.0063	0.0011	0	0.0070	0.0415	0.0029	0.0010	0.0411	0.0070	0.0133	0.0068	0.012	0.57480	D	0.039	0.51112	D	0.325	0.33132	B	0.06	0.26717	B	0.014830	0.28418	N	0.426812	0.990814	0.41242	D	1.65	0.42232	L	1.09	0.39223	T	-1.29	0.35194	N	0.718	0.72031	-0.9537	0.40327	T	0.045	0.19316	T	10	0.005722612	0.00127	T	.	.	.	0.132	0.35948	.	.	0.415955377315	0.41215	0.5655904180921868	0.56486	0.59240676416	0.54630	0.716925263405	0.69599	T	0.037393	0.24461	T	-0.330464	0.06077	T	-0.24346	0.50460	T	0.0154007402693536	0.00344	T	0.887611	0.61581	D	0.23386055	0.46197	0.26654023	0.52500	0.23386055	0.46197	0.26654023	0.52499	-4.574	0.31982	T	.	.	0.209	0.51874	B	.;.;.;.	.;.;.;.	3.473202	0.48468	22.6	0.87758277527904116	0.17460	0.98286	0.81270	D	AEFDGBI	0.561569	0.56951	D	-0.105033052101989	0.37172	2.158918	0.0124872738930544	0.40293	2.402406	0.480808113755305	0.20784	0.615465	0.37627	0	0.633656	0.55848	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.58	5.58	0.84361	2.220000	0.42549	11.119000	0.86504	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.8443:0.1556:0.0:0.0	11.016	0.46905	684	0.59539	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.010101	0.028533	0.040936	0.000000	0.051724	0.021341	0.026515	0.05	638.43	34	chr20	44051315	.	A	G	638.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.345;DP=366;ExcessHet=0;FS=1.26;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=-0.916;SOR=0.504	GT:AD:DP:GQ:PL	0/0:43,0:43:89:0,89,1229	9	0	1	0
chr20	44719949	44719949	G	A	exonic	CCN5	.	nonsynonymous SNV	CCN5:NM_001323369:exon2:c.G113A:p.R38Q,CCN5:NM_003881:exon2:c.G113A:p.R38Q,CCN5:NM_001323370:exon3:c.G113A:p.R38Q	.	427	1094	1	0	0	1	0.00045683	.	.	.	3292564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0171681928142	0.0003	.	0.0001	0.0003	0	0	0	0.0001	0	6.3e-05	8.41e-05	13	154602	rs142450134	5.063e-05	5.062e-05	3.812e-05	6.327e-05	0.0003	4.126e-05	3.779e-05	0.0001	8.677e-05	0.0002	0	0	0	0	0.0003	5.037e-05	8.281e-05	3.479e-05	0.0001	0.0001	0.0002	0.0001	0.0003	8.665e-05	7.257e-05	0.0001	0.0001	0.0003	0	0	0	0	0	0	0.0001	0.0010	0	0.623	0.31682	T	0.198	0.27767	T	0.259	0.31472	B	0.027	0.21085	B	0.448622	0.12535	N	0.748495	0.98363	0.24868	N	0.915	0.23335	L	0.38	0.57575	T	-0.9	0.47008	N	0.177	0.28146	-1.0592	0.11956	T	0.075	0.30179	T	10	0.1224184	0.23222	T	0.017168	0.38759	T	0.149	0.39377	.	.	0.0884992946249	0.08302	0.28276754992337383	0.28189	0.263708629876	0.28926	0.256210744381	0.04449	T	0.059	0.30914	T	-0.306447	0.08065	T	-0.398532	0.33555	T	0.0194376364018392	0.00647	T	0.751225	0.43132	T	0.032245107	0.03213	0.032663926	0.02036	0.032245107	0.03212	0.032663926	0.02035	-4.994	0.46431	T	.	.	0.075	0.27939	B	.;.;.	.;.;.	2.027580	0.25767	16.88	0.92168037614814891	0.21531	0.58271	0.30597	D	AEFDGBI	0.303216	0.41125	N	-0.83490701020308	0.12424	0.605542	-0.780328621990213	0.14977	0.7854124	0.999991508832863	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.41	1.25	0.20475	1.357000	0.33694	-0.065000	0.12373	-0.799000	0.03183	0.082000	0.22389	0.000000	0.08366	0.010000	0.09038	0.2117:0.1252:0.6631:0.0	6.985	0.23905	448	0.79501	Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP;.;Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP|Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1208.43	34	chr20	44719949	.	G	A	1208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.99;DP=412;ExcessHet=0;FS=3.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-0.157;SOR=0.712	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1304	9	0	1	0
chr20	44750474	44750474	G	A	exonic	KCNK15	.	nonsynonymous SNV	KCNK15:NM_022358:exon2:c.G629A:p.S210N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0226918335369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.371	0.16425	T	.	.	.	.	.	.	0.055241	0.22659	N	0.449490	0.999871	0.19925	N	.	.	.	1.58	0.29085	T	-0.41	0.14000	N	0.029	0.00666	-1.0087	0.27323	T	0.028	0.12103	T	10	0.06207651	0.07881	T	0.022692	0.45601	T	0.132	0.35948	0.305	0.27485	0.268660756437	0.26461	0.44199480540054803	0.44116	.	.	0.437614768744	0.30251	T	.	.	.	-0.35214	0.04594	T	-0.743601	0.03741	T	0.298467755317688	0.24940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10304	B	.	.	1.735612	0.22085	15.48	0.79967793803419107	0.12983	0.71233	0.34925	D	AEFDBHCI	0.198753	0.32560	N	-0.995426255549075	0.08701	0.4089712	-0.879719923097869	0.12574	0.647643	0.999979876789243	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	4.51	1.51	0.22094	4.443000	0.59736	1.353000	0.25823	-0.642000	0.04431	1.000000	0.71638	0.771000	0.26700	0.107000	0.18608	0.5365:0.0:0.4635:0.0	6.830	0.23085	634	0.64659	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3555.43	56	chr20	44750474	.	G	A	3555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.144;DP=774;ExcessHet=0;FS=1.292;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.229;SOR=0.789	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr20	45176026	45176026	G	A	exonic	PI3	.	nonsynonymous SNV	PI3:NM_002638:exon2:c.G245A:p.R82Q	.	.	.	.	.	.	.	.	.	.	.	2378139	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.065	0.0104703001374	0.0002	0.000199681	0.0001	0	0	0.0010	0	7.492e-05	0	6.056e-05	0.0001035	16	154602	rs142652976	7.867e-05	7.867e-05	8.167e-05	7.563e-05	0.0017	6.666e-05	6.201e-05	0.0014	0.0012	0	0	0	0.0017	0	0	3.867e-05	1.656e-05	4.637e-05	3.283e-05	3.281e-05	3.855e-05	2.686e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.398e-05	0	0	0	0	0.0006	0	0	2.941e-05	0	0	0.376	0.11334	T	0.456	0.12740	T	0.372	0.34134	B	0.046	0.24676	B	0.444547	0.12585	N	0.662303	1	0.08975	N	0.86	0.21358	L	-0.59	0.71543	T	-2.02	0.46503	N	0.069	0.04188	-1.0101	0.26886	T	0.162	0.49847	T	10	0.05697897	0.06472	T	0.01047	0.27045	T	0.065	0.18881	.	.	0.370240404367	0.36630	0.14407067592340914	0.14330	0.195488186159	0.21887	0.192969977856	0.00282	T	0.296525	0.66915	T	-0.414196	0.01865	T	-0.51273	0.21035	T	0.0883855819702148	0.11024	T	0.642236	0.25428	T	0.122968845	0.28884	0.09502169	0.22517	0.122968845	0.28884	0.09502169	0.22516	-4.027	0.24206	T	.	.	0.111	0.21466	B	.	.	0.270203	0.06479	2.956	0.81462455988067217	0.13697	0.00354	0.01821	N	AEFDBI	0.031306	0.03316	N	-1.01980558105216	0.08193	0.3833036	-1.12894341660731	0.07151	0.3468001	0.998032557285209	0.36340	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.49	-2.06	0.06894	-1.665000	0.02067	-3.961000	0.02426	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4974:0.0:0.5026:0.0	8.893	0.34603	894	0.26265	WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain|WAP-type 'four-disulfide core' domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	3035.43	33	chr20	45176026	.	G	A	3035.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=810;ExcessHet=0;FS=0.912;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.467;SOR=0.772	GT:AD:DP:GQ:PL	0/1:147,132:279:99:3047,0,3258	9	0	1	0
chr20	45208667	45208667	G	A	exonic	SEMG1	.	nonsynonymous SNV	SEMG1:NM_003007:exon2:c.G1370A:p.R457Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00208075824562	0.0019	0.00179712	0.0008	0.0052	0.0004	0	0.0041	0.0001	0.0012	7.062e-05	0.0007115	110	154602	rs137914795	0.0004	0.0004	0.0004	0.0003	0.0056	0.0003	0.0003	0.0049	0.0046	0.0056	0.0005	0	2.523e-05	0.0042	0.0002	3.788e-05	0.0008	9.399e-05	0.0018	0.0018	0.0017	0.0019	0.0051	0.0016	0.0015	0.0045	0.0043	0.0051	0	0.0005	0	0.0008	0.0038	0	8.82e-05	0.0014	0.0002	0.705	0.04107	T	0.43	0.13713	T	0.123	0.26785	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.2	0.07236	T	0.33	0.03889	N	0.037	0.01135	-0.9221	0.45265	T	0.009	0.03183	T	9	0.005224228	0.00114	T	0.002081	0.03828	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.04206873382196085	0.04151	0.0401084390643	0.04292	.	.	.	0.00208	0.01490	T	-0.704434	0.00034	T	-0.783143	0.02360	T	0.00552064186546192	0.00060	T	0.352865	0.07937	T	0.015121977	0.00123	0.029804213	0.01360	0.015121977	0.00123	0.029804213	0.01359	-2.08	0.03499	T	.	.	0.098	0.16451	B	.	.	0.131064	0.05267	1.766	0.18707940268700241	0.00600	0.00040	0.00335	N	AEFGBI	0.021635	0.00985	N	-1.62985309262346	0.01123	0.04876366	-1.75079241543305	0.00930	0.04162781	0.691501290010414	0.22594	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	1.25	-2.51	0.05996	-1.631000	0.02128	-3.548000	0.02704	-0.102000	0.15922	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3473:0.0:0.6527:0.0	6.417	0.20922	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1405.43	41	chr20	45208667	.	G	A	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.126;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=1.24;SOR=0.737	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr20	45221915	45221915	A	C	exonic	SEMG2	.	nonsynonymous SNV	SEMG2:NM_003008:exon2:c.A283C:p.K95Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00101449227979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.035	0.52389	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.28	0.64929	M	2.64	0.12780	T	-1.8	0.42384	N	0.14	0.13911	-1.0587	0.12083	T	0.068	0.27743	T	9	0.35977793	0.52637	T	0.001014	0.01096	T	0.093	0.26882	0.726	0.86024	0.227934060464	0.22382	0.04954772755484569	0.04897	0.102706332859	0.11620	0.326726287603	0.14439	T	0.00309	0.02494	T	-0.306412	0.08069	T	-0.677916	0.07112	T	0.189342826604843	0.19806	T	0.774523	0.40643	T	0.13739602	0.31815	0.056270942	0.10024	0.13739602	0.31815	0.056270942	0.10024	-3.436	0.15545	T	.	.	0.242	0.47622	B	.	.	1.343472	0.17504	13.20	0.95801988683030492	0.27860	0.01541	0.05062	N	AEFGBI	0.025653	0.01794	N	-0.427626988199434	0.24505	1.323605	-0.778560441311908	0.15021	0.7878849	5.64529560833593E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	1.07	-0.876	0.10086	-0.346000	0.07809	-0.036000	0.12731	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4735:0.0:0.5265:0.0	3.569	0.07462	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1917.43	34	chr20	45221915	.	A	C	1917.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.382;DP=766;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.451;SOR=0.616	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1156	9	0	1	0
chr20	45293997	45293997	C	T	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_030592:exon7:c.G1352A:p.G451E,MATN4:NM_030590:exon8:c.G1475A:p.G492E,MATN4:NM_003833:exon10:c.G1598A:p.G533E	.	438	1082	2	0	0	2	0.000923361	.	.	.	3214379	MATN4-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.105	.	0.0111	0.0109824	0.0031	0.0349	0.0016	0	0	6.086e-05	0	0	0.0029301	453	154602	rs79708482	0.0010	0.0010	0.0011	0.0009	0.0345	0.0010	0.0010	0.0329	0.0322	0.0345	0.0019	3.83e-05	0	0	0.0012	7.196e-05	0.0023	4.644e-05	0.0093	0.0093	0.0098	0.0088	0.0324	0.0089	0.0087	0.0310	0.0304	0.0324	0	0.0029	0	0	0	0	0.0001	0.0076	0.0002	0.116	0.28395	T	0.618	0.10465	T	0.028	0.65571	B	0.023	0.63276	B	0.001855	0.37840	N	0.000000	0.935737	0.27763	N	0.985	0.24966	L	-0.91	0.75001	T	-0.53	0.17417	N	0.136	0.16028	-0.8041	0.54903	T	0.153	0.48257	T	10	0.0044611692	0.00092	T	.	.	.	0.105	0.29889	.	.	0.867671069683	0.86638	0.5262069395933298	0.52544	1.32499314031	0.83536	0.515538156033	0.40999	T	0.019572	0.15567	T	-0.412474	0.01914	T	-0.3402	0.40321	T	0.0154752613227845	0.00349	T	0.827917	0.50835	T	0.16744503	0.37142	0.1614166	0.37547	0.22958209	0.45698	0.14281283	0.33962	-2.097	0.05429	T	0.06435483699727322	0.02043	0.081	0.08368	B	.;.;.;.;.	.;.;.;.;.	2.963606	0.39475	21.0	0.99086828116497372	0.52100	0.50153	0.28597	D	ALL	0.156296	0.28162	N	0.0984178475897963	0.46389	2.879986	0.18672570305669	0.49119	3.11902	0.999999999999563	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	4.44	3.42	0.38259	3.034000	0.49441	4.004000	0.41101	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.968000	0.53726	0.222:0.6615:0.0:0.1165	4.529	0.11399	878	0.29785	.;Matrilin, coiled-coil trimerisation domain;.;Matrilin, coiled-coil trimerisation domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	721.43	33	chr20	45293997	.	C	T	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=377;ExcessHet=0;FS=4.93;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.182;SOR=1.329	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1044	9	0	1	0
chr20	45304759	45304759	C	G	exonic	MATN4	.	nonsynonymous SNV	MATN4:NM_030590:exon3:c.G112C:p.V38L,MATN4:NM_030592:exon3:c.G112C:p.V38L,MATN4:NM_003833:exon4:c.G112C:p.V38L	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	.	0.0103	0.0115815	0.0032	0.0374	0.0016	0	0	6.581e-05	0	0	0.0028913	447	154602	rs114313957	0.0010	0.0010	0.0011	0.0009	0.0350	0.0010	0.0010	0.0333	0.0327	0.0350	0.0019	3.871e-05	0	0	0.0012	7.185e-05	0.0023	4.676e-05	0.0095	0.0095	0.0098	0.0090	0.0329	0.0090	0.0089	0.0315	0.0309	0.0329	0	0.0029	0	0	0	0	0.0001	0.0080	0.0002	0.112	0.28900	T	0.11	0.37310	T	0.002	0.15093	B	0.009	0.17743	B	0.306376	0.14510	N	0.567187	1	0.81001	D	0.025	0.08010	N	-1.76	0.83578	D	-1.24	0.31375	N	0.27	0.32148	-0.9744	0.36257	T	0.095	0.35844	T	10	0.010562807	0.00234	T	.	.	.	0.160	0.41473	0.596	0.72617	0.731689507483	0.72930	0.30429060264883645	0.30342	0.442455837758	0.44211	0.605365216732	0.53662	T	0.027679	0.20215	T	-0.476282	0.00778	T	-0.431855	0.29724	T	0.00699006676985673	0.00079	T	0.89491	0.70155	D	0.40139407	0.60829	0.15064268	0.35518	0.38247988	0.59496	0.1735455	0.39687	-7.422	0.57059	T	0.16016723590682094	0.19522	0.279	0.59131	B	.;.;.;.;.	.;.;.;.;.	2.472060	0.31864	18.87	0.98073234238196871	0.38046	0.78633	0.38824	D	AEFDGBI	0.283488	0.39658	N	-0.567745150262052	0.19931	1.046928	-0.388569665773958	0.25336	1.392733	8.59423414899244E-5	0.04703	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.63947	0.58350	0	.	.	4.2	2.1	0.26226	1.168000	0.31468	3.432000	0.38322	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.998000	0.85391	0.0:0.6284:0.1751:0.1964	4.952	0.13368	872	0.31118	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	699.43	40	chr20	45304759	.	C	G	699.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.173;DP=409;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.503;SOR=0.904	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1374	9	0	1	0
chr20	45308196	45308196	G	C	exonic	RBPJL	.	nonsynonymous SNV	RBPJL:NM_001281448:exon2:c.G76C:p.E26Q,RBPJL:NM_001281449:exon2:c.G76C:p.E26Q,RBPJL:NM_014276:exon2:c.G76C:p.E26Q	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0115	0.0115815	0.0032	0.0350	0.0016	0	0	6.004e-05	0	0	0.0030207	467	154602	rs115744323	0.0010	0.0010	0.0012	0.0009	0.0351	0.0010	0.0010	0.0335	0.0328	0.0351	0.0019	3.827e-05	0	0	0.0012	7.105e-05	0.0024	4.637e-05	0.0095	0.0095	0.0100	0.0090	0.0332	0.0091	0.0089	0.0317	0.0311	0.0332	0	0.0029	0	0	0	0	0.0001	0.0080	0.0002	0.044	0.42487	D	0.672	0.08419	T	0.838	0.46404	P	0.478	0.47030	P	0.496332	0.12000	N	0.737582	1	0.81001	D	1.04	0.26193	L	1.11	0.59037	T	-0.06	0.08495	N	0.41	0.45047	-1.0925	0.05128	T	0.054	0.22693	T	10	0.0033268332	0.00057	T	.	.	.	0.103	0.29403	.	.	0.433713641954	0.42991	0.34072041459186525	0.33985	0.883612736072	0.69867	0.561760663986	0.47516	T	0.04453	0.30794	T	-0.513172	0.00482	T	-0.484845	0.23933	T	0.0231140580180054	0.01037	T	0.589041	0.21605	T	0.1544938	0.34964	0.1365443	0.32662	0.1544938	0.34964	0.1365443	0.32661	-3.179	0.12226	T	.	.	0.095	0.15475	B	.;.;.	.;.;.	4.308810	0.65846	24.9	0.99751114037665656	0.84305	0.83321	0.42447	D	AEFDBHCIJ	0.408431	0.48011	N	0.0337676066701701	0.43395	2.633408	0.0902256011506764	0.44054	2.69476	0.999911177747874	0.45857	0.59774	0.34471	0	0.596491	0.49125	0	0.651303	0.49530	0	0.530356	0.10902	0	.	.	4.24	4.24	0.49486	3.814000	0.55348	8.105000	0.76571	0.671000	0.69459	0.994000	0.38300	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	12.303	0.54206	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	755.43	33	chr20	45308196	.	G	C	755.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.01;DP=388;ExcessHet=0;FS=3.313;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.124;SOR=1.107	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,984	9	0	1	0
chr20	45840716	45840716	T	A	exonic	SNX21	.	nonsynonymous SNV	SNX21:NM_033421:exon4:c.T525A:p.F175L,SNX21:NM_152897:exon4:c.T525A:p.F175L	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.0312831498292	0.0024	0.00259585	0.0006	0.0062	0.0003	0	0	0	0	6.056e-05	0.0005433	84	154602	rs35898295	0.0002	0.0002	0.0002	0.0002	0.0066	0.0002	0.0002	0.0059	0.0056	0.0066	0.0005	0	0	0	0	1.799e-06	0.0007	3.478e-05	0.0015	0.0015	0.0016	0.0014	0.0051	0.0013	0.0012	0.0045	0.0043	0.0051	0	0.0005	0	0	0	0	0	0.0014	0	0.069	0.35537	T	0.211	0.92824	T	0.018	0.38362	B	0.028	0.41250	B	0.000011	0.62929	N	0.113923	0.996969	0.81001	D	2.04	0.55661	M	-0.47	0.70133	T	-5.43	0.85323	D	0.621	0.66187	-0.7922	0.55601	T	0.150	0.47822	T	10	0.010530233	0.00234	T	0.031283	0.53406	D	0.517	0.79400	0.856	0.95547	0.429780353351	0.42593	0.7730206596088646	0.77252	0.415326448694	0.42189	0.829149663448	0.86432	D	0.266762	0.67995	T	-0.0486363	0.44654	T	0.159834	0.80797	D	0.0578951688337985	0.06833	T	0.731327	0.45852	T	0.42744875	0.62585	0.36052287	0.61492	0.42744875	0.62586	0.36052287	0.61492	-8.35	0.63431	D	.	.	0.973	0.89889	P	.;.;.	.;.;.	3.112538	0.41986	21.5	0.99125851126089604	0.53116	0.65219	0.32664	D	AEFBCI	0.204443	0.33087	N	-0.168316841788516	0.34459	1.967071	-0.0985635213258362	0.35450	2.051097	0.910882401398475	0.26351	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	4.32	3.19	0.35720	0.318000	0.19252	-0.195000	0.11000	0.665000	0.62972	0.998000	0.41325	0.649000	0.25954	0.997000	0.79791	0.156:0.1785:0.0:0.6655	3.961	0.08905	797	0.45241	Phox homologous domain|Phox homologous domain|Phox homologous domain;.;Phox homologous domain|Phox homologous domain|Phox homologous domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	996.43	41	chr20	45840716	.	T	A	996.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.659;DP=402;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.665;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1073	9	0	1	0
chr20	45841936	45841936	G	A	exonic	ACOT8	.	nonsynonymous SNV	ACOT8:NM_005469:exon6:c.C862T:p.H288Y	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0119021634721	0.0067	0.00239617	0.0053	0.0018	0.0028	0	0.0027	0.0073	0.0024	0.0047	0.0053816	832	154602	rs148674138	0.0080	0.0080	0.0081	0.0079	0.0093	0.0079	0.0078	0.0092	0.0091	0.0014	0.0031	0.0061	0	0.0028	0.0049	0.0093	0.0069	0.0043	0.0051	0.0051	0.0055	0.0047	0.0085	0.0048	0.0047	0.0080	0.0077	0.0015	0.0055	0.0047	0.0040	0	0.0013	0.0034	0.0085	0.0043	0.0046	0.009	0.57480	D	0.759	0.04652	T	0.175	0.28858	B	0.084	0.29270	B	0.000199	0.48115	D	0.225320	0.999513	0.81001	D	1.955	0.52871	M	.	.	.	-1.09	0.28290	N	0.306	0.34552	-0.5581	0.66476	T	0.231	0.59744	T	9	0.015983373	0.00336	T	0.011902	0.29978	T	0.186	0.46104	.	.	0.59231078066	0.58908	0.5544770968830558	0.55374	0.198422229685	0.22219	0.349779963493	0.17890	T	0.307673	0.67980	T	-0.289998	0.09636	T	-0.17895	0.56621	T	0.0207078205935791	0.00770	T	0.894111	0.63286	D	0.23414735	0.46230	0.20354654	0.44436	0.23414735	0.46230	0.20354654	0.44435	-5.487	0.41747	T	.	.	0.131	0.28261	B	.	.	2.379332	0.30541	18.47	0.99582855476779286	0.73099	0.98498	0.83415	D	AEFDBCI	0.947358	0.95781	D	0.343111006930953	0.58377	4.00951	0.471099906915172	0.66082	4.906	0.999999999999956	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	9.244000	0.94550	6.501000	0.55783	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.718	0.91647	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009834	0.010101	0.006793	0.006944	0.000000	0.017241	0.015244	0.015152	0.05	1369.43	34	chr20	45841936	.	G	A	1369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.298;DP=435;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.039;SOR=0.562	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1037	9	0	1	0
chr20	45876767	45876767	C	T	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.C209T:p.T70M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00480321930846	.	0.000599042	0.0006	0	0	0	0	1.502e-05	0	0.0043	0.0004851	75	154602	rs573326472	0.0002	0.0002	0.0001	0.0004	0.0038	0.0002	0.0002	0.0035	0.0033	2.987e-05	0	0	0	1.872e-05	0	1.709e-05	0.0002	0.0038	0.0001	0.0001	6.424e-05	0.0002	0.0041	9.741e-05	8.255e-05	0.0027	0.0023	0	0	0	0	0	0	0	2.94e-05	0	0.0041	0.013	0.53900	D	0.055	0.46862	T	0.865	0.47557	P	0.131	0.32951	B	0.299983	0.14615	N	0.671682	1	0.08975	N	2.08	0.57402	M	1.9	0.23486	T	0.05	0.06369	N	0.24	0.27077	-1.0620	0.11263	T	0.033	0.14247	T	10	0.0035443306	0.00064	T	0.004803	0.12004	T	0.007	0.00512	0.245	0.17984	0.141422826196	0.13715	0.4031961276512099	0.40235	0.367479578391	0.38306	0.363446593285	0.19887	T	0.020088	0.15881	T	-0.538321	0.00343	T	-0.546557	0.17658	T	0.0211275144703937	0.00814	T	0.789321	0.42944	T	0.036704864	0.04566	0.053494483	0.09022	0.036704864	0.04565	0.053494483	0.09021	-4.63	0.32546	T	.	.	0.094	0.14385	B	.	.	2.465282	0.31763	18.84	0.99344700346251558	0.60331	0.05434	0.11308	N	AEFBI	0.042960	0.06730	N	-0.533127670415854	0.21016	1.112209	-0.617984099759298	0.19030	1.019303	0.992284832802798	0.32785	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	5.36	2.07	0.26004	0.588000	0.23626	1.369000	0.25941	0.599000	0.40250	0.061000	0.21800	0.325000	0.24344	0.379000	0.26312	0.4467:0.4625:0.0:0.0908	6.316	0.20399	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	3786.12	35	chr20	45876767	.	C	T	3786.12	.	AC=2;AF=0.1;AN=20;DP=440;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=32.36;SOR=1.417	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	1	0	0
chr20	45877873	45877873	C	T	exonic	ZSWIM3	.	nonsynonymous SNV	ZSWIM3:NM_080752:exon2:c.C1315T:p.P439S	.	429	1089	3	1	0	5	0.00229043	.	.	.	2765228	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00422138099413	.	.	1.653e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs762486983	7.525e-06	7.524e-06	2.722e-06	1.238e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	0	6.708e-05	0	0	0	0.0003	1.799e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468	0.08534	T	0.373	0.16328	T	0.192	0.29441	B	0.033	0.22329	B	0.000070	0.52346	D	0.081345	0.707373	0.33483	D	2.52	0.73523	M	1.86	0.24285	T	-0.25	0.11008	N	0.284	0.32148	-1.0296	0.20583	T	0.033	0.14203	T	10	0.063771576	0.08357	T	0.004221	0.10184	T	0.031	0.07369	0.255	0.19533	0.0482279557977	0.04254	0.17440652969573478	0.17359	0.862503557744	0.69024	0.326456189156	0.14399	T	0.014026	0.12018	T	-0.27161	0.11579	T	-0.54506	0.17802	T	0.309534043073654	0.25395	T	0.785321	0.42297	T	0.060536794	0.12433	0.08511137	0.19628	0.060536794	0.12433	0.08511137	0.19627	-3.916	0.22542	T	.	.	0.084	0.09481	B	.	.	1.352400	0.17601	13.26	0.96784595747449842	0.31087	0.69665	0.34278	D	AEFBI	0.117145	0.22962	N	-0.447055375520322	0.23840	1.283094	-0.288558736646675	0.28474	1.587935	0.999029841211689	0.38237	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.41	3.49	0.39065	1.505000	0.35344	1.048000	0.23614	0.599000	0.40250	0.348000	0.25742	0.394000	0.24678	0.993000	0.69303	0.0:0.8446:0.0:0.1554	10.063	0.41461	744	0.52588	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1399.43	38	chr20	45877873	.	C	T	1399.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=546;ExcessHet=0;FS=0.66;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.2;ReadPosRankSum=1.55;SOR=0.626	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	9	0	1	0
chr20	45886756	45886756	G	A	exonic	SPATA25	.	stopgain	SPATA25:NM_080608:exon2:c.C445T:p.Q149X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0002	0	0	0	0	0	0	0.0017	0.000194	30	154602	rs541634704	8.62e-05	8.619e-05	2.995e-05	0.0001	0.0014	7.354e-05	6.904e-05	0.0012	0.0012	0	0	0	0	0	0	0	3.311e-05	0.0014	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0014	2.107e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	0.000083	0.51296	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.235	0.26475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201729	0.74054	D	0.481615	0.94238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.672952	0.97867	38	0.99732591896208422	0.82904	0.87940	0.47658	D	AEFDBHCI	0.081015	0.16388	N	1.06441645208058	0.97417	16.09302	0.904351554665136	0.95760	13.93964	0.999999800683877	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	1.712000	0.37560	8.731000	0.78185	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0933:0.0:0.9067:0.0	9.476	0.38037	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3241.12	34	chr20	45886756	.	G	A	3241.12	.	AC=2;AF=0.1;AN=20;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.07;SOR=1.493	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1105	9	1	0	0
chr20	45950261	45950261	T	C	exonic	ZNF335	.	nonsynonymous SNV	ZNF335:NM_022095:exon22:c.A3445G:p.I1149V	.	418	1089	14	1	0	16	0.00729262	.	.	.	208667	not_specified|not_provided|ZNF335-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.00899988980791	0.0002	0.00159744	0.0008	9.798e-05	0.0004	0.0001	0	0.0006	0.0013	0.0047	0.0001552	24	154602	rs143113106	0.0006	0.0006	0.0005	0.0008	0.0046	0.0006	0.0006	0.0042	0.0041	9.498e-05	0.0004	4.649e-05	2.549e-05	9.878e-05	0.0030	0.0004	0.0009	0.0046	0.0004	0.0004	0.0003	0.0005	0.0062	0.0003	0.0003	0.0045	0.0039	7.218e-05	0	0.0003	0	0	0	0.0034	0.0003	0.0005	0.0062	0.001	0.78490	D	0.025	0.56192	D	0.985	0.61118	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.999961	0.52935	D	1.795	0.47270	L	3.06	0.08634	T	-0.27	0.11366	N	0.434	0.47301	-1.1076	0.03284	T	0.032	0.13548	T	10	0.008857846	0.00201	T	0.009	0.23702	T	0.068	0.19811	.	.	0.479518371956	0.47582	0.18307421158142345	0.18226	0.60149478984	0.55188	0.62885928154	0.56983	T	0.091753	0.38862	T	-0.450338	0.01124	T	-0.419252	0.31162	T	0.0541689350982694	0.06218	T	0.89771	0.64209	D	0.30317298	0.53187	0.19128355	0.42579	0.30317298	0.53187	0.19128355	0.42578	-3.031	0.10519	T	0.4789466605307448	0.55797	0.151	0.33435	B	.	.	3.886972	0.56536	23.7	0.99916462444390297	0.98449	0.97138	0.72912	D	AEFDBCI	0.594822	0.58961	D	0.484195710313345	0.66168	4.915221	0.509225164700833	0.68609	5.243758	0.999999998580457	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.86	4.86	0.62624	7.059000	0.76386	5.089000	0.47337	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:0.0:1.0	12.606	0.55881	757	0.50970	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001362	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	683.43	41	chr20	45950261	.	T	C	683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=403;ExcessHet=0;FS=3.457;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=2.24;SOR=1.247	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr20	46550558	46550558	C	T	exonic	OCSTAMP	.	startloss	OCSTAMP:NM_080721:exon1:c.G3A:p.M1?	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.743415468977	0.0009	0.000399361	0.0015	0	0.0073	0	0.0018	0.0008	0	0.0024	0.000414	64	154602	rs201982370	0.0010	0.0010	0.0009	0.0012	0.0072	0.0010	0.0010	0.0055	0.0048	0.0003	0.0004	0	0	0.0001	0.0072	0.0010	0.0014	0.0030	0.0007	0.0007	0.0006	0.0008	0.0017	0.0006	0.0006	0.0010	0.0009	7.214e-05	0.0011	0.0005	0	0	0.0004	0.0102	0.0012	0.0005	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.981	0.59675	D	0.932	0.66722	D	.	.	.	.	1	0.81001	D	.	.	.	0.85	0.47130	T	-0.68	0.19509	N	0.905	0.90590	-0.5239	0.67770	T	0.263	0.63437	T	8	0.05213979	0.05202	T	0.743415	0.97947	D	0.293	0.61272	0.758	0.88730	0.335164054921	0.33125	0.3978455299208361	0.39699	.	.	.	.	.	0.003471	0.02879	T	-0.112038	0.34431	T	0.0638671	0.74502	D	0.152734796077675	0.17319	T	0.9	0.65058	D	0.8784407	0.89539	0.6997496	0.82311	0.8784407	0.89540	0.6997496	0.82312	-8.173	0.62243	D	.	.	.	.	.	.	.	2.151221	0.27404	17.45	0.98501855793267334	0.42228	0.82009	0.41305	D	AEFDBHCI	0.019887	0.00733	N	0.330129444091183	0.57701	3.938492	0.227479204873877	0.51377	3.320807	0.999976488912041	0.50053	0.487112	0.14033	0	0.480063	0.06835	0	0.607795	0.38427	0	0.564101	0.26826	0	.	.	4.14	4.14	0.47821	3.315000	0.51661	5.478000	0.48715	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:1.0:0.0:0.0	12.085	0.52989	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004184	0.005263	0.000000	0.004167	0.000000	0.000000	0.000000	0.009804	0.05	1388.43	33	chr20	46550558	.	C	T	1388.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=460;ExcessHet=0;FS=7.749;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.637;SOR=1.319	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1141	9	0	1	0
chr20	49228847	49228847	A	G	exonic	DDX27	.	nonsynonymous SNV	DDX27:NM_001348187:exon8:c.A839G:p.Q280R,DDX27:NM_017895:exon8:c.A839G:p.Q280R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.0148054819229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.745e-06	4.788e-06	4.093e-06	1.381e-06	3.607e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.607e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.188	0.28669	T	0.775	0.44108	P	0.589	0.50435	P	0.000000	0.84330	D	0.050677	0.999977	0.53665	D	0.4	0.12274	N	2.37	0.15964	T	-2.7	0.57599	D	0.565	0.59223	-1.1055	0.03486	T	0.040	0.17063	T	10	0.51501024	0.62315	D	0.014805	0.35167	T	0.212	0.50341	0.383	0.40134	0.194818534648	0.19098	0.644233229214214	0.64358	0.441427201238	0.44130	0.677466154099	0.63905	T	0.020945	0.16402	T	-0.0956507	0.37142	T	-0.375172	0.36285	T	0.9198899269104	0.57880	D	0.914509	0.69822	D	0.30723283	0.53545	0.39770263	0.64378	0.30723283	0.53545	0.39770263	0.64378	-9.167	0.68766	D	.	.	0.187	0.47880	B	.;.;.	.;.;.	4.640935	0.73888	26.1	0.99747789490402927	0.84002	0.97897	0.77954	D	AEFDGBI	0.839819	0.75719	D	0.370225038162065	0.59815	4.164179	0.468998070933583	0.65947	4.888459	0.999999861121309	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.102000	0.76653	11.238000	0.90335	0.729000	0.85517	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.835:0.0:0.0:0.165	8.986	0.35153	872	0.31118	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	442.43	42	chr20	49228847	.	A	G	442.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.608;DP=397;ExcessHet=0;FS=7.144;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.56;SOR=2.03	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1192	9	0	1	0
chr20	49906820	49906820	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A362C:p.Y121S,SPATA2:NM_006038:exon3:c.A362C:p.Y121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.030845030118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.036	0.52060	D	0.96	0.55278	D	0.663	0.52893	P	0.004612	0.33568	N	0.293492	0.991121	0.81001	D	2.095	0.58118	M	-0.03	0.63077	T	-2.87	0.60348	D	0.71	0.71498	-0.6788	0.61428	T	0.243	0.61201	T	10	0.58538824	0.66081	D	0.030845	0.53068	D	0.331	0.65325	0.434	0.48500	0.362933182269	0.35899	0.6727801292125147	0.67216	0.399734681576	0.40989	0.4348269701	0.29869	T	0.055225	0.29946	T	0.101775	0.64483	D	-0.0915834	0.64042	T	0.774645328521729	0.44721	D	0.831017	0.49766	T	0.51594	0.68026	0.20415933	0.44526	0.51594	0.68027	0.20415933	0.44525	-6.65	0.51433	T	.	.	0.125	0.27313	B	.;.	.;.	3.113050	0.41995	21.5	0.98055628144904006	0.37905	0.90706	0.52107	D	AEDBHCI	0.411785	0.48212	N	0.0525829897013685	0.44261	2.703404	0.0378185106348584	0.41487	2.493255	0.789198283229838	0.23985	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	4.5	0.54382	3.720000	0.54661	2.343000	0.32266	-0.255000	0.07062	1.000000	0.71638	0.998000	0.33993	0.975000	0.56047	0.2698:0.0:0.0:0.7302	10.019	0.41205	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	90.05	34	chr20	49906820	.	T	G	90.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.224;DP=449;ExcessHet=0;FS=46.518;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=-0.209;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:51:.:.:0,51,961:.	8	0	1	1
chr20	49906823	49906823	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A359C:p.Y120S,SPATA2:NM_006038:exon3:c.A359C:p.Y120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.740	0.129027542904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.625	0.76847	M	0.01	0.62459	T	-5.92	0.88963	D	0.947	0.95491	-0.1164	0.79718	T	0.429	0.77173	T	10	0.9058163	0.89946	D	0.129028	0.81103	D	0.740	0.90982	0.704	0.84054	0.484824406055	0.48112	0.7453351515872784	0.74479	0.963419316255	0.73082	0.746162295341	0.73880	T	0.451357	0.79211	T	0.338223	0.85713	D	0.248058	0.85525	D	0.994831421425804	0.86377	D	0.845915	0.52533	T	0.9436017	0.95614	0.89609224	0.94699	0.9436017	0.95614	0.89609224	0.94699	-5.655	0.43291	T	.	.	0.896	0.82547	P	.;.	.;.	5.048950	0.84086	28.2	0.99191121793113657	0.54994	0.95960	0.66903	D	AEDBHCI	0.878899	0.80446	D	0.701199312438925	0.79710	7.135678	0.654387342827681	0.78937	6.978046	0.99999941042468	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	7.515000	0.80659	7.929000	0.74923	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.802	0.78236	970	0.06235	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	96.73	34	chr20	49906823	.	T	G	96.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.391;DP=427;ExcessHet=0;FS=50.461;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=-0.397;SOR=4.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:75:.:.:0,75,1160:.	7	0	1	2
chr20	50191167	50191178	CCCCCGCGGCGC	-	exonic	CEBPB	.	nonframeshift deletion	CEBPB:NM_001285878:exon1:c.65_76del:p.P26_A29del,CEBPB:NM_005194:exon1:c.134_145del:p.P49_A52del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0002	0	0.0001	3.84e-05	1	26028	rs759127954	5.158e-05	6.704e-05	4.957e-05	5.364e-05	0.0001	4.133e-05	3.783e-05	4.846e-05	3.237e-05	7.389e-05	0.0001	0	3.55e-05	5.243e-05	0	4.695e-05	9.34e-05	6.811e-05	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	0.0001	0.0009	0.0007	0.0001	0	0.0013	0	0.0002	0.0002	0	1.479e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1059.39	36	chr20	50191166	.	GCCCCCGCGGCGC	G	1059.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.24;DP=391;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.54;ReadPosRankSum=2.01;SOR=0.611	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	9	0	1	0
chr20	50609578	50609578	C	T	exonic	RIPOR3	.	nonsynonymous SNV	RIPOR3:NM_001290268:exon7:c.G571A:p.A191T,RIPOR3:NM_080829:exon7:c.G559A:p.A187T	.	421	1100	1	0	0	1	0.000454339	.	.	.	3316151	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00386541118707	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150236153	2.594e-05	2.736e-05	2.897e-05	2.272e-05	0.0006	1.85e-05	1.627e-05	0.0004	0.0004	3.683e-05	0	0	0.0006	0	0.0002	4.878e-06	5.696e-05	3.283e-05	3.94e-05	3.937e-05	5.141e-05	2.686e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.378e-05	0	0	0	0	0.0006	0	0	4.412e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.151444	0.17954	N	0.606507	0.999162	0.21555	N	.	.	.	4.61	0.01851	T	3.57	0.00082	N	0.094	0.07398	-0.9557	0.39970	T	0.001	0.00287	T	10	0.015509993	0.00326	T	0.003865	0.09055	T	0.052	0.14661	.	.	0.0401082797425	0.02173	0.060437283224982374	0.05983	0.0921549829616	0.10406	0.374439179897	0.21466	T	0.033536	0.22955	T	-0.391064	0.02648	T	-0.799513	0.01915	T	0.0442298336044189	0.04463	T	0.39496	0.09912	T	0.025052056	0.01401	0.046762332	0.06587	0.025052056	0.01400	0.046762332	0.06587	-1.521	0.01807	T	.	.	0.062	0.01197	B	.;.	.;.	0.630750	0.09991	6.746	0.5344495922378345	0.04941	0.06637	0.12655	N	AEFDBI	0.039143	0.05645	N	-1.44696660894155	0.02241	0.09873631	-1.26544442465266	0.04905	0.2325458	0.00189259774156388	0.08984	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	5.2	-3.32	0.04663	0.279000	0.18532	-1.498000	0.05304	-0.182000	0.10109	0.997000	0.40164	0.000000	0.08366	0.023000	0.12082	0.2279:0.2003:0.1232:0.4486	0.712	0.00867	972	0.05671	FAM65, N-terminal;FAM65, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	279.43	38	chr20	50609578	.	C	T	279.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.24;DP=331;ExcessHet=0;FS=4.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.35;ReadPosRankSum=1.65;SOR=0.502	GT:AD:DP:GQ:PL	0/0:31,0:31:90:0,90,976	9	0	1	0
chr20	51516833	51516833	C	T	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223A:p.G408D,NFATC2:NM_001258292:exon3:c.G1223A:p.G408D,NFATC2:NM_001258294:exon3:c.G626A:p.G209D,NFATC2:NM_001258295:exon3:c.G626A:p.G209D,NFATC2:NM_001258296:exon3:c.G626A:p.G209D,NFATC2:NM_001258297:exon3:c.G626A:p.G209D,NFATC2:NM_012340:exon3:c.G1283A:p.G428D,NFATC2:NM_173091:exon3:c.G1283A:p.G428D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.893	0.262073555344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.882e-07	2.056e-06	0	1.383e-06	9.057e-07	0	0	.	.	0	0	0	0	0	0	9.057e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.7	0.72785	T	-6.5	0.91609	D	0.94	0.95608	0.381	0.88810	D	0.611	0.86246	D	10	0.9135088	0.90714	D	0.262074	0.89547	D	0.893	0.96947	0.711	0.84691	0.919610210409	0.91879	0.8600597117562743	0.85969	1.36751619527	0.84468	0.868866324425	0.92406	D	0.671936	0.90273	D	0.38892	0.89260	D	0.32088	0.89126	D	0.997196435928345	0.90986	D	0.999049	0.99552	D	0.9028719	0.91642	0.8530377	0.91708	0.9028719	0.91643	0.8530377	0.91709	-13.698	0.92426	D	.	.	1.000	0.99795	P	.;.;.;.;.;.	.;.;.;.;.;.	5.517230	0.91744	32	0.99867588980001254	0.94547	0.98253	0.80960	D	AEFDBHI	0.905011	0.85599	D	0.910254360952043	0.92253	11.31834	0.843558426454481	0.92633	11.54079	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	35.45	54	chr20	51516833	.	C	T	35.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.124;DP=479;ExcessHet=0;FS=155.874;InbreedingCoeff=-0.0543;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.8;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,107,1295:.	9	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	61.68	31	chr20	51516834	.	C	G	61.68	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-0.514;DP=459;ExcessHet=0;FS=155.874;InbreedingCoeff=-0.3355;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.92;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:30,0:30:0:.:.:0,0,565:.	1	0	1	8
chr20	51516880	51516880	G	C	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.C1176G:p.I392M,NFATC2:NM_001258292:exon3:c.C1176G:p.I392M,NFATC2:NM_001258294:exon3:c.C579G:p.I193M,NFATC2:NM_001258295:exon3:c.C579G:p.I193M,NFATC2:NM_001258296:exon3:c.C579G:p.I193M,NFATC2:NM_001258297:exon3:c.C579G:p.I193M,NFATC2:NM_012340:exon3:c.C1236G:p.I412M,NFATC2:NM_173091:exon3:c.C1236G:p.I412M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.394	0.0789016952258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.51248	D	0.002	0.79402	D	0.993	0.65571	D	0.976	0.73562	D	0.000004	0.62929	D	0.101064	0.999857	0.49910	D	2.34	0.67151	M	-0.2	0.66113	T	-2.69	0.57435	D	0.855	0.85238	-0.5339	0.67394	T	0.326	0.69461	T	10	0.8859699	0.87925	D	0.078902	0.73111	D	0.394	0.70924	0.749	0.87988	0.788164834858	0.78620	0.7815461693347541	0.78105	1.17859640205	0.79955	0.59225153923	0.51811	T	0.581341	0.86295	D	0.0715492	0.61036	D	-0.135001	0.60547	T	0.960401177406311	0.65796	D	0.892711	0.62952	D	0.7231571	0.79338	0.43122634	0.66747	0.7231571	0.79339	0.43122634	0.66747	-10.085	0.74621	D	.	.	0.166	0.41141	B	.;.;.;.;.;.	.;.;.;.;.;.	0.644535	0.10131	6.875	0.99379905945032365	0.61847	0.22706	0.21836	N	AEFDBHCI	0.179575	0.30687	N	-0.383253309869517	0.26065	1.419718	-0.552818545628636	0.20731	1.118268	0.774347602473775	0.23726	0.562547	0.31514	0	0.653731	0.59785	0	0.608075	0.38828	0	0.635551	0.53088	0	.	.	5.25	-2.82	0.05442	-1.509000	0.02368	-5.415000	0.01727	-1.331000	0.01216	0.000000	0.06391	0.000000	0.08366	0.843000	0.39806	0.33:0.0:0.5555:0.1145	9.859	0.40272	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	804.43	38	chr20	51516880	.	G	C	804.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.475;DP=450;ExcessHet=0;FS=1.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.29;ReadPosRankSum=0.018;SOR=0.918	GT:AD:DP:GQ:PL	0/1:59,38:97:99:816,0,1356	9	0	1	0
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.1	3444.14	121	chr20	54028628	.	C	A	3444.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.68;DP=516;ExcessHet=0.2348;FS=7.311;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=0.426;SOR=0.399	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1274	8	0	2	0
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.040404	0.001359	0.002924	0.050000	0.000000	0.012195	0.007576	0.05556	1027.05	406	chr20	56524998	.	C	T	1027.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.23;DP=1045;ExcessHet=0;FS=34.142;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.01;MQRankSum=-19.17;QD=2.53;ReadPosRankSum=-3.644;SOR=3.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	8	0	1	1
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.020202	0.001359	0.000000	0.050000	0.000000	0.012195	0.007576	0.05	733.43	393	chr20	56525005	.	T	C	733.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.24;DP=1000;ExcessHet=0;FS=70.18;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.08;MQRankSum=-18.41;QD=1.87;ReadPosRankSum=-2.922;SOR=5.24	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,105,1575:.	9	0	1	0
chr20	57503448	57503448	C	T	exonic	CTCFL	.	nonsynonymous SNV	CTCFL:NM_001269054:exon8:c.G1042A:p.A348T,CTCFL:NM_001269041:exon9:c.G1828A:p.A610T,CTCFL:NM_001269044:exon9:c.G1828A:p.A610T,CTCFL:NM_001269046:exon9:c.G1678A:p.A560T,CTCFL:NM_001269049:exon9:c.G1213A:p.A405T,CTCFL:NM_001269040:exon10:c.G1828A:p.A610T,CTCFL:NM_001269042:exon10:c.G1828A:p.A610T,CTCFL:NM_001269043:exon10:c.G1828A:p.A610T,CTCFL:NM_080618:exon11:c.G1828A:p.A610T	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00244467616351	0.0035	0.00279553	0.0016	0.0076	0.0010	0	0.0011	0.0010	0.0033	0.0019	0.0015653	242	154602	rs142170954	0.0013	0.0013	0.0012	0.0013	0.0066	0.0012	0.0012	0.0059	0.0056	0.0066	0.0008	0	5.038e-05	0.0010	0.0026	0.0011	0.0013	0.0026	0.0024	0.0024	0.0025	0.0023	0.0064	0.0022	0.0021	0.0057	0.0055	0.0064	0	0.0010	0	0	0.0006	0	0.0009	0.0024	0.0029	0.033	0.44358	D	0.569	0.58613	T	0.002	0.09854	B	0.0	0.01387	B	0.312266	0.04023	N	1.652230	1	0.08975	N	0	0.06538	N	2.87	0.10578	T	-0.14	0.10656	N	0.156	0.21710	-0.9927	0.31906	T	0.008	0.02638	T	9	0.0034537315	0.00061	T	0.002445	0.04813	T	0.021	0.04004	.	.	0.182106788282	0.17826	0.063785063016116	0.06317	0.523028891513	0.50016	0.259960532188	0.04886	T	0.028496	0.20628	T	-0.588171	0.00172	T	-0.612938	0.11748	T	0.00287389517692217	0.00030	T	0.630437	0.24556	T	0.08795631	0.20501	0.1333032	0.31968	0.08795631	0.20500	0.1333032	0.31967	-3.417	0.20387	T	.	.	0.078	0.20313	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	0.723502	0.10925	7.594	0.93007021166018666	0.22598	0.04391	0.09973	N	ALL	0.106535	0.21253	N	-1.23965273606581	0.04437	0.2002629	-1.32373123613723	0.04125	0.1939236	0.991582545997433	0.32538	0.553676	0.25195	0	0.378051	0.05961	2	0.618467	0.43123	0	0.530356	0.10902	0	.	.	0.158	0.158	0.14233	0.572000	0.23387	-0.647000	0.08048	0.241000	0.18245	0.004000	0.16614	0.004000	0.18990	0.204000	0.22012	.	.	.	906	0.23090	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.005051	0.001359	0.002924	0.000000	0.000000	0.009146	0.007576	0.05	1568.43	33	chr20	57503448	.	C	T	1568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.513;DP=425;ExcessHet=0;FS=0.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.336;SOR=0.575	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1115	9	0	1	0
chr20	57565562	57565562	C	T	exonic	PCK1	.	nonsynonymous SNV	PCK1:NM_002591:exon10:c.C1627T:p.R543W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.0828391094999	.	.	3.299e-05	0.0002	0	0.0001	0	0	0	6.06e-05	2.59e-05	4	154602	rs745817666	2.189e-05	2.257e-05	1.77e-05	2.613e-05	0.0001	1.584e-05	1.356e-05	4.907e-05	3.165e-05	0	0	0	0.0001	0	0	1.889e-05	6.623e-05	2.319e-05	3.943e-05	3.94e-05	5.139e-05	2.691e-05	0.0004	1.716e-05	1.13e-05	6.823e-05	2.855e-05	7.243e-05	0	0	0	0.0004	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.915	0.96218	H	3.09	0.08371	T	-5.16	0.83422	D	0.868	0.86511	-0.6170	0.64113	T	0.134	0.44759	T	10	0.893847	0.88734	D	0.082839	0.73987	D	0.415	0.72555	.	.	0.670596422724	0.66781	0.9702440307178898	0.97013	0.507641427205	0.48948	0.521762907505	0.41874	T	0.468051	0.80214	T	-0.0396463	0.46003	T	0.0352757	0.72620	D	0.984587967395782	0.75845	D	0.982702	0.94130	D	0.7737651	0.82274	0.69521576	0.82056	0.7737651	0.82275	0.69521576	0.82057	-13.236	0.90311	D	0.8765770733946245	0.93564	0.712	0.73454	P	.	.	3.881362	0.56413	23.7	0.99925265675100328	0.99042	0.45606	0.27576	N	AEFGBHCI	0.945750	0.95441	D	0.658626268484992	0.76929	6.577721	0.492196750178446	0.67472	5.088587	0.999835489540713	0.43792	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	4.66	0.57857	0.696000	0.25220	0.311000	0.17083	0.599000	0.40250	0.227000	0.24611	0.009000	0.19889	0.645000	0.32557	0.205:0.795:0.0:0.0	15.671	0.77034	809	0.43032	Phosphoenolpyruvate carboxykinase, GTP-utilising, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	1551.43	40	chr20	57565562	.	C	T	1551.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.49;DP=503;ExcessHet=0;FS=3.089;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.507;SOR=0.931	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr20	57652114	57652114	G	A	exonic	PMEPA1	.	nonsynonymous SNV	PMEPA1:NM_001255976:exon4:c.C719T:p.P240L,PMEPA1:NM_020182:exon4:c.C803T:p.P268L,PMEPA1:NM_199169:exon4:c.C698T:p.P233L,PMEPA1:NM_199170:exon4:c.C653T:p.P218L,PMEPA1:NM_199171:exon4:c.C653T:p.P218L	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0019	0.00179712	0.0065	0.0003	0.0104	0	0	0.0089	0.0135	0.0057	0.0022121	342	154602	rs148829733	0.0029	0.0029	0.0028	0.0030	0.0093	0.0028	0.0028	0.0073	0.0066	0.0006	0.0036	0.0035	2.605e-05	0.0004	0.0093	0.0030	0.0033	0.0040	0.0022	0.0022	0.0022	0.0021	0.0046	0.0020	0.0019	0.0038	0.0035	0.0007	0	0.0046	0.0020	0	0.0004	0.0170	0.0029	0.0024	0.0031	0.007	0.68238	D	0.027	0.63918	D	0.137	0.27402	B	0.037	0.23121	B	0.404171	0.13084	N	0.715319	0.706254	0.33472	D	0.69	0.16971	N	0.97	0.42502	T	-3.43	0.68298	D	0.259	0.42149	-0.9347	0.43439	T	0.083	0.32671	T	10	0.0076191127	0.00173	T	.	.	.	0.029	0.06676	.	.	0.12205267543	0.11705	0.36309227256854276	0.36223	0.632557692363	0.57183	0.494021475315	0.37997	T	0.197134	0.55371	T	-0.52124	0.00433	T	-0.522975	0.19995	T	0.0167556808589164	0.00431	T	0.867913	0.56927	D	0.05512273	0.10670	0.058195956	0.10713	0.05512273	0.10670	0.058195956	0.10712	-4.941	0.36193	T	0.2378468361591428	0.32211	0.113	0.22245	B	.;.;.;.;.	.;.;.;.;.	1.750648	0.22270	15.55	0.96805604297800951	0.31169	0.71454	0.35020	D	AEFDGBCI	0.247569	0.36812	N	-0.436719195244775	0.24192	1.304559	-0.395558123697557	0.25129	1.380115	0.990729299226161	0.32248	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.47	3.38	0.37806	1.325000	0.33330	5.046000	0.46955	0.676000	0.76740	0.988000	0.36536	1.000000	0.68203	0.004000	0.06068	0.0:0.3685:0.4945:0.137	7.425	0.26266	863	0.32847	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009128	0.015625	0.005450	0.011834	0.000000	0.000000	0.018519	0.007576	0.05	499.43	56	chr20	57652114	.	G	A	499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.227;DP=417;ExcessHet=0;FS=2.118;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.84;ReadPosRankSum=-0.546;SOR=1.011	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,104,1162	9	0	1	0
chr20	59007126	59007126	C	T	exonic	CTSZ	.	startloss	CTSZ:NM_001336:exon1:c.G3A:p.M1?	.	216	1305	1	0	0	1	0.000382995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.937131142699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.037	0.51737	D	0.039	0.21116	B	0.025	0.20508	B	0.128836	0.18716	U	0.208574	1	0.81001	D	.	.	.	-0.35	0.68616	T	-0.76	0.21215	N	0.718	0.72031	-0.8508	0.51912	T	0.180	0.52613	T	9	0.9801127	0.97968	D	0.937131	0.99551	D	0.286	0.60456	0.996	0.99957	0.652849316004	0.64995	0.60815482652862	0.60747	.	.	.	.	.	0.074106	0.34859	T	0.176958	0.71763	D	0.0164111	0.71398	D	0.749284565448761	0.43245	D	0.9	0.65058	D	0.8428107	0.86810	0.5403061	0.73433	0.8428107	0.86811	0.5403061	0.73433	-12.704	0.88107	D	.	.	.	.	.	.	.	2.881328	0.38127	20.7	0.98293596767114777	0.39973	0.17163	0.19717	N	ALL	0.019577	0.00693	N	-0.554493579526207	0.20342	1.071704	-0.579025253174854	0.20041	1.077946	0.999999999999724	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.674405	0.61402	0	0.621717	0.48901	0	.	.	3.21	2.25	0.27340	1.056000	0.30089	5.406000	0.48524	0.581000	0.30040	0.128000	0.23311	1.000000	0.68203	0.168000	0.20914	0.0:0.8536:0.0:0.1464	6.237	0.19977	985	0.02828	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	193.49	17	chr20	59007126	.	C	T	193.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=128;ExcessHet=0;FS=0;InbreedingCoeff=-0.0581;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.289;SOR=0.551	GT:AD:DP:GQ:PL	0/0:7,0:7:21:0,21,171	9	0	1	0
chr20	59036733	59036733	C	T	exonic	PRELID3B	.	nonsynonymous SNV	PRELID3B:NM_001256403:exon3:c.G229A:p.D77N,PRELID3B:NM_016045:exon4:c.G319A:p.D107N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0168561392456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.329	0.20100	T	0.011	0.15914	B	0.033	0.22329	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	2.26	0.17596	T	-1.78	0.47852	N	0.837	0.84298	-1.1224	0.02185	T	0.056	0.23602	T	10	0.7449423	0.75221	D	0.016856	0.38312	T	0.091	0.26358	0.503	0.59615	0.325263233342	0.32141	0.6304605146847013	0.62980	0.255388776605	0.28132	0.725858211517	0.70902	T	0.011621	0.10339	T	-0.176279	0.24291	T	-0.490989	0.23289	T	0.929527699947357	0.59364	D	0.712729	0.32446	T	0.345469	0.56712	0.26686448	0.52537	0.345469	0.56712	0.26686448	0.52536	-5.659	0.43327	T	.	.	0.243	0.60378	B	.;.	.;.	3.847476	0.55711	23.6	0.99763980340407643	0.85335	0.99299	0.94153	D	AEFDBI	0.902245	0.84991	D	0.21844601827706	0.52093	3.385787	0.370249439430965	0.59735	4.154082	0.999999999999997	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	7.568000	0.81546	7.538000	0.60033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.339	0.90240	969	0.06854	PRELI/MSF1 domain|PRELI/MSF1 domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1310.43	34	chr20	59036733	.	C	T	1310.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=383;ExcessHet=0;FS=1.984;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.02;ReadPosRankSum=0.24;SOR=1.028	GT:AD:DP:GQ:PL	0/0:33,0:33:81:0,81,1215	9	0	1	0
chr20	59191167	59191167	C	G	exonic	ZNF831	.	nonsynonymous SNV	ZNF831:NM_178457:exon2:c.C148G:p.P50A,ZNF831:NM_001384354:exon4:c.C148G:p.P50A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00108174571408	.	0.000199681	9.226e-06	0	0	0	0	0	0	7.555e-05	1.29e-05	2	154602	rs553290407	1.379e-06	1.368e-06	1.373e-06	1.386e-06	1.169e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.013e-07	0	1.169e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.003	0.68238	D	0.052	0.47581	T	0.995	0.67487	D	0.857	0.61067	P	.	.	.	.	1	0.08975	N	2.095	0.58118	M	3.61	0.04446	T	-0.37	0.13226	N	0.13	0.12484	-1.0007	0.29717	T	0.020	0.08220	T	9	0.10628453	0.19688	T	0.001082	0.01263	T	0.080	0.23350	0.264	0.20946	0.473143432122	0.46942	0.2913476755719448	0.29047	0.19954006279	0.22355	0.430277198553	0.29247	T	0.013842	0.11897	T	-0.345586	0.05011	T	-0.551419	0.17190	T	0.240316584706306	0.22434	T	0.212079	0.02586	T	0.060545158	0.12436	0.096809246	0.23017	0.060545158	0.12436	0.096809246	0.23016	-3.552	0.17168	T	.	.	0.088	0.11749	B	.;.	.;.	1.434552	0.18534	13.79	0.96724714058152483	0.30862	0.45393	0.27528	N	AEFDGBI	0.134240	0.25418	N	-0.047424689420145	0.39717	2.346722	-0.117001568193041	0.34704	1.999315	0.0956412790509868	0.16231	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.64	3.72	0.41857	0.467000	0.21747	0.000000	0.13247	0.331000	0.19555	0.060000	0.21767	0.992000	0.31684	0.964000	0.52637	0.1422:0.72:0.0:0.1378	6.685	0.22329	993	0.01300	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	880.43	33	chr20	59191167	.	C	G	880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.554;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.131;SOR=0.818	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1245	9	0	1	0
chr20	59193754	59193754	C	T	exonic	ZNF831	.	nonsynonymous SNV	ZNF831:NM_178457:exon2:c.C2735T:p.A912V,ZNF831:NM_001384354:exon4:c.C2735T:p.A912V	.	411	1099	12	0	0	12	0.00542986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0107640811923	0.0016	0.000399361	0.0016	0.0001	0.0008	0	0.0003	0.0027	0.0024	0.0001	0.00152	235	154602	rs61742492	0.0012	0.0012	0.0011	0.0013	0.0157	0.0011	0.0011	0.0131	0.0121	0.0003	0.0009	0.0255	0	0.0002	0.0157	0.0006	0.0027	0.0006	0.0014	0.0014	0.0013	0.0016	0.0019	0.0013	0.0012	0.0014	0.0012	0.0001	0	0.0019	0.0268	0	0	0.0034	0.0011	0.0038	0.0008	0.008	0.58626	D	0.177	0.29740	T	0.004	0.12183	B	0.003	0.08700	B	0.642541	0.05876	N	1.230650	1	0.08975	N	0.55	0.14455	N	3.43	0.05440	T	-1.07	0.27876	N	0.039	0.01274	-0.9319	0.43859	T	0.010	0.03492	T	10	0.005129546	0.00111	T	0.010764	0.27663	T	0.027	0.05988	.	.	0.0401082797425	0.02173	0.05713339172068332	0.05654	0.205340813296	0.22955	0.366763174534	0.20366	T	0.004799	0.04217	T	-0.690685	0.00041	T	-0.805431	0.01770	T	0.006050671944802	0.00067	T	0.376562	0.08996	T	0.06877481	0.15012	0.049359716	0.07525	0.06877481	0.15012	0.049359716	0.07524	-4.393	0.29462	T	.	.	0.108	0.21277	B	.;.	.;.	-1.373024	0.00380	0.007	0.81835366463220438	0.13884	0.02077	0.06181	N	AEFDBI	0.047482	0.08001	N	-1.69851546333717	0.00847	0.03663992	-1.74695025622497	0.00945	0.04229511	7.85153011957299E-4	0.07810	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.53	-4.09	0.03685	-2.140000	0.01387	-4.711000	0.02021	-2.499000	0.00264	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.14:0.2853:0.1372:0.4374	1.658	0.02617	993	0.01300	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014617	0.005051	0.017663	0.017544	0.050000	0.051724	0.006135	0.000000	0.05	1112.43	52	chr20	59193754	.	C	T	1112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.756;DP=503;ExcessHet=0;FS=1.954;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.49;SOR=1.026	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,108,1265	9	0	1	0
chr20	59972081	59972081	T	A	exonic	CDH26	.	stopgain	CDH26:NM_177980:exon4:c.T351A:p.Y117X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1342140577	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002232	0.36970	N	0.275955	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.182	0.19728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161363	0.70327	D	0.0908645	0.76303	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.060082	0.60248	24.2	0.99352263892405357	0.60656	0.28212	0.23492	N	AEFGBHCIJ	0.105276	0.21040	N	-0.25791848502514	0.30789	1.720046	-0.592011937939524	0.19700	1.058158	0.999965751200877	0.48965	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.13	-3.05	0.05069	-1.118000	0.03391	-4.324000	0.02216	-0.128000	0.13240	0.185000	0.24126	0.000000	0.08366	0.910000	0.44547	0.0:0.4165:0.0:0.5835	11.295	0.48511	994	0.00715	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1205.43	34	chr20	59972081	.	T	A	1205.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=417;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.587;SOR=0.573	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1127	9	0	1	0
chr20	62009072	62009072	C	T	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon5:c.G1864A:p.E622K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0399214121146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.19361	T	0.426	0.13872	T	0.723	0.42412	P	0.466	0.46637	P	0.000001	0.62929	D	0.054541	1	0.81001	D	1.87	0.49600	L	0.94	0.43672	T	-1.31	0.32791	N	0.457	0.49420	-1.0843	0.06535	T	0.095	0.35844	T	10	0.4298922	0.57420	T	0.039921	0.59082	D	0.111	0.31313	0.509	0.60540	0.311241185304	0.30733	0.4288987444204244	0.42806	1.82042460252	0.91945	0.823706686497	0.85597	D	0.103375	0.41198	T	-0.0704215	0.41259	T	-0.338932	0.40465	T	0.945475578308105	0.62271	D	0.934906	0.75551	D	0.26495337	0.49564	0.18678105	0.41871	0.26495337	0.49564	0.18678105	0.41870	-9.85	0.73009	D	.	.	0.753	0.75196	P	.	.	5.018379	0.83384	28.0	0.99906747833635268	0.97726	0.99322	0.94478	D	AEFGBI	0.865753	0.78496	D	0.24894266095713	0.53585	3.526891	0.371525595802103	0.59815	4.162686	0.999999999996071	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	7.599000	0.82008	7.521000	0.59763	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	18.743	0.91746	934	0.15400	TAFH/NHR1|TAFH/NHR1|TAFH/NHR1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1091.43	103	chr20	62009072	.	C	T	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.69;DP=423;ExcessHet=0;FS=2.578;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.709;SOR=0.973	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1340	9	0	1	0
chr20	62064755	62064755	C	A	exonic	TAF4	.	nonsynonymous SNV	TAF4:NM_003185:exon1:c.G1056T:p.Q352H	.	440	1081	0	1	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.0061901	0.0031	0.0714	0	0	0	0	0	0	0.0005692	88	154602	rs545583149	0.0005	0.0004	0.0005	0.0005	0.0217	0.0005	0.0004	0.0200	0.0193	0.0217	0.0012	0	0	0	0.0004	1.363e-05	0.0016	4.439e-05	0.0062	0.0062	0.0066	0.0058	0.0213	0.0059	0.0058	0.0201	0.0196	0.0213	0	0.0024	0	0	0	0.0070	1.521e-05	0.0054	0	0.063	0.36709	T	0.12	0.35970	T	0.679	0.41373	P	0.276	0.40142	B	0.005396	0.01076	U	11.033200	0.999997	0.08975	N	0.695	0.17993	N	1.75	0.26152	T	-0.83	0.22727	N	0.158	0.16447	-0.9921	0.32063	T	0.053	0.22423	T	10	0.0037680268	0.00070	T	.	.	.	0.061	0.17616	0.224	0.14813	0.456461865991	0.45270	0.4764881069352775	0.47568	0.64836943724	0.58189	0.694449782372	0.66345	T	0.091577	0.38824	T	-0.547167	0.00303	T	-0.543808	0.17924	T	0.0482498971015225	0.05189	T	0.279572	0.04862	T	0.1107636	0.26179	0.16682087	0.38519	0.1107636	0.26178	0.16682087	0.38518	-5.048	0.37357	T	.	.	0.205	0.43074	B	.	.	2.418354	0.31091	18.64	0.88966938511310389	0.18400	0.09521	0.15258	N	AEFDBHCI	0.035339	0.04531	N	-0.717499053747588	0.15530	0.7834528	-0.837298248870857	0.13593	0.705994	0.999985870530217	0.51787	0.455138	0.09556	0	0.475579	0.06741	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	2.3	1.19	0.20120	2.406000	0.44210	0.665000	0.20538	0.380000	0.20399	1.000000	0.71638	0.998000	0.33993	0.771000	0.36558	0.0:0.7883:0.2117:0.0	9.897	0.40496	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003338	0.013699	0.006098	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	101.71	6	chr20	62064755	.	C	A	101.71	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.842;DP=113;ExcessHet=0;FS=0;InbreedingCoeff=-0.0722;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.95;ReadPosRankSum=0.842;SOR=0.693	GT:AD:DP:GQ:PL	0/0:10,0:10:27:0,27,405	9	0	1	0
chr20	62163515	62163515	G	A	exonic	SS18L1	.	nonsynonymous SNV	SS18L1:NM_198935:exon6:c.G614A:p.S205N,SS18L1:NM_001301778:exon7:c.G221A:p.S74N	.	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0161055889078	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774237530	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.48	0.17857	T	0.651	0.40707	P	0.212	0.37394	B	0.000013	0.62929	D	0.181068	0.959805	0.26172	N	1.155	0.29575	L	1.47	0.31987	T	-0.83	0.22727	N	0.372	0.46274	-0.9609	0.39012	T	0.080	0.31765	T	10	0.27515107	0.45071	T	0.016106	0.37202	T	0.123	0.34020	0.191	0.10171	0.171220215726	0.16700	0.38990407730860444	0.38905	0.369277446004	0.38454	0.485124528408	0.36763	T	0.076405	0.35411	T	-0.202838	0.20395	T	-0.529139	0.19371	T	0.876802861690521	0.52669	D	0.862314	0.55722	D	0.2063885	0.42812	0.1822744	0.41144	0.2063885	0.42812	0.1822744	0.41143	-5.827	0.44809	T	.	.	0.123	0.33710	B	.;.	.;.	2.747391	0.36003	20.1	0.99322152752319548	0.59431	0.90717	0.52128	D	AEFDGBCI	0.507842	0.53797	D	0.291497723096936	0.55716	3.735792	0.351321767203974	0.58589	4.030154	0.999904318058718	0.45458	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.32	4.31	0.50718	5.216000	0.65079	5.621000	0.49085	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.2555:0.7445:0.0	14.864	0.70035	912	0.21483	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	573.43	39	chr20	62163515	.	G	A	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.903;DP=392;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-0.202;SOR=0.782	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1009	9	0	1	0
chr20	62310503	62310503	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon76:c.C10516T:p.R3506W	.	403	1106	12	1	0	14	0.00628931	.	.	.	2374032	LAMA5-related_disorder|Inborn_genetic_diseases	.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0334919233534	.	0.000199681	0.0002	0	0.0004	0	0	8.495e-05	0.0027	0.0006	0.0001552	24	154602	rs533441062	0.0001	0.0001	8.866e-05	0.0001	0.0026	9.041e-05	8.509e-05	0.0015	0.0012	0	0.0005	0	0	0	0.0026	4.849e-05	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0001	0.0006	0.0004	7.214e-05	0	0.0009	0	0	0	0	0.0002	0	0.0008	0.066	0.36113	T	0.024	0.56640	D	0.997	0.70673	D	0.446	0.45959	B	0.541681	0.05317	N	1.250980	1	0.08975	N	2.175	0.60977	M	2.05	0.20664	T	-3.05	0.62976	D	0.411	0.45142	-0.9942	0.31512	T	0.058	0.24354	T	10	0.054679066	0.05860	T	0.033492	0.55016	D	0.056	0.15993	0.467	0.53891	0.338449385132	0.33456	0.42126804897189174	0.42042	.	.	0.339464694262	0.16358	T	0.19636	0.55272	T	-0.429112	0.01500	T	-0.500133	0.22333	T	0.0754072055996979	0.09389	T	0.829117	0.49388	T	0.074384496	0.16690	0.08253064	0.18843	0.074384496	0.16690	0.08253064	0.18843	-7.055	0.54435	T	.	.	0.120	0.24800	B	.	.	3.040309	0.40753	21.2	0.99788791021676959	0.87484	0.09359	0.15131	N	AEFDBHCI	0.208683	0.33474	N	-0.248642568077362	0.31158	1.744319	-0.368894836170995	0.25930	1.42906	0.99987059709518	0.44625	0.67177	0.52595	0	0.588066	0.40923	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.15	1.82	0.24209	0.263000	0.18247	2.630000	0.33687	0.674000	0.70861	0.000000	0.06391	0.118000	0.22871	0.558000	0.30364	0.0:0.1343:0.4514:0.4143	9.121	0.35950	779	0.47767	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001515	0.000000	0.002725	0.003012	0.000000	0.000000	0.000000	0.003788	0.05	688.43	56	chr20	62310503	.	G	A	688.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.308;DP=405;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.318;SOR=0.518	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,706	9	0	1	0
chr20	62318575	62318575	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon53:c.G7118A:p.R2373Q	.	415	1106	1	0	0	1	0.000451875	.	.	.	717107	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.071	.	0.0074	0.00539137	0.0021	0.0225	0.0010	0	0	0.0002	0	0.0002	0.0018628	288	154602	rs148907937	0.0007	0.0007	0.0008	0.0007	0.0203	0.0007	0.0007	0.0191	0.0186	0.0203	0.0012	0	2.519e-05	3.888e-05	0.0009	0.0002	0.0015	0.0003	0.0056	0.0056	0.0057	0.0055	0.0193	0.0053	0.0052	0.0182	0.0178	0.0193	0	0.0017	0	0	0	0	0.0002	0.0052	0.0004	0.477	0.08310	T	0.438	0.13403	T	0.003	0.11197	B	0.001	0.04355	B	0.243153	0.15668	N	0.595355	0.999999	0.08975	N	-0.22	0.03977	N	3.01	0.09075	T	-1.14	0.29323	N	0.124	0.11626	-0.9430	0.42137	T	0.005	0.01688	T	10	0.009405822	0.00212	T	.	.	.	0.071	0.20720	.	.	0.171220215726	0.16700	0.16355072683106767	0.16275	.	.	0.3245485425	0.14109	T	0.024843	0.18695	T	-0.757902	0.00016	T	-0.844531	0.01033	T	0.000556431894746657	0.00005	T	0.393561	0.09813	T	0.03571104	0.04255	0.044905763	0.05925	0.03571104	0.04254	0.044905763	0.05924	-4.697	0.33367	T	.	.	0.071	0.04002	B	.	.	0.093896	0.04970	1.533	0.87592801803882803	0.17339	0.02441	0.06877	N	AEFDGBHCI	0.061344	0.11722	N	-1.42637703025254	0.02409	0.1063408	-1.4461713622779	0.02805	0.129691	0.999992304470465	0.74766	0.67177	0.52595	0	0.626922	0.53725	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	3.88	-1.99	0.07047	0.218000	0.17407	-1.026000	0.06564	-0.200000	0.08971	0.270000	0.25046	0.006000	0.19429	0.216000	0.22352	0.0:0.5677:0.0:0.4323	10.853	0.45986	774	0.48577	Laminin alpha, domain I	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	529.43	33	chr20	62318575	.	C	T	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.694;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.395;SOR=0.813	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1052	9	0	1	0
chr20	62326876	62326876	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon39:c.G5203A:p.V1735M	.	414	1102	6	0	0	6	0.00271493	.	.	.	728780	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.422	0.104077176245	0.0067	0.00139776	0.0053	0.0015	0.0056	0	0.0048	0.0073	0.0056	0.0026	0.0052522	812	154602	rs45496002	0.0074	0.0074	0.0074	0.0073	0.0085	0.0072	0.0072	0.0084	0.0083	0.0010	0.0044	0.0041	2.522e-05	0.0054	0.0014	0.0085	0.0068	0.0025	0.0053	0.0053	0.0055	0.0052	0.0092	0.0050	0.0049	0.0086	0.0084	0.0012	0.0011	0.0036	0.0058	0.0002	0.0038	0.0034	0.0092	0.0028	0.0027	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000506	0.43753	D	0.199169	0.99998	0.54805	D	3.91	0.96185	H	0.59	0.53943	T	-2.42	0.53096	N	0.501	0.53357	-0.1358	0.79266	T	0.329	0.69724	T	10	0.014198393	0.00299	T	0.104077	0.77846	D	0.422	0.73078	.	.	0.694235987891	0.69160	0.6043040046195761	0.60361	.	.	0.574169158936	0.49266	T	0.102297	0.40989	T	-0.343552	0.05145	T	-0.254589	0.49363	T	0.108499092748908	0.13268	T	0.920508	0.71260	D	0.5291229	0.68780	0.4694742	0.69231	0.5291229	0.68781	0.4694742	0.69232	-9.666	0.71888	D	.	.	0.36	0.57211	A	.	.	3.777379	0.54290	23.5	0.99853624567196342	0.93279	0.76136	0.37319	D	AEFGBHCI	0.336084	0.43431	N	0.568632276339805	0.71221	5.618392	0.430952153302505	0.63502	4.58528	0.999973373697213	0.50053	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.586000	0.36221	4.661000	0.44237	0.599000	0.40250	0.858000	0.30578	1.000000	0.68203	0.147000	0.20199	0.0:0.92:0.0:0.08	12.036	0.52718	779	0.47767	Laminin IV|Laminin IV|Laminin IV	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1144.43	33	chr20	62326876	.	C	T	1144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.152;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-1.763;SOR=0.724	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,966	9	0	1	0
chr20	62351729	62351729	C	T	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon6:c.G931A:p.A311T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.0858771839085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.60337	D	0.998	0.73220	D	0.942	0.67772	D	0.000002	0.62929	U	0.057162	0.999999	0.81001	D	1.25	0.31749	L	0.1	0.61326	T	-1.89	0.44094	N	0.442	0.48042	-0.6644	0.62082	T	0.288	0.65978	T	10	0.3987872	0.55418	T	0.085877	0.74623	D	0.339	0.66106	0.477	0.55502	0.701373224483	0.69878	0.409326317413586	0.40848	.	.	0.49871045351	0.38647	T	0.048762	0.28111	T	0.0258804	0.55172	T	-0.200601	0.54589	T	0.933867454528809	0.60092	D	0.862314	0.70989	D	0.4071995	0.61229	0.5928032	0.76367	0.4071995	0.61229	0.5928032	0.76368	-5.839	0.44913	T	.	.	0.105	0.48998	B	.;.	.;.	3.254935	0.44492	21.9	0.99854460774262288	0.93368	0.93537	0.58487	D	AEFGBCI	0.478975	0.52132	N	0.125095555906086	0.47635	2.986513	-0.00856271327834855	0.39325	2.330047	0.999999999963016	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.21	3.24	0.36257	4.722000	0.61651	2.159000	0.30968	0.547000	0.25779	1.000000	0.71638	0.974000	0.29927	0.214000	0.22296	0.0:0.844:0.156:0.0	13.726	0.62238	804	0.43891	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1140.43	76	chr20	62351729	.	C	T	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.093;DP=393;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=1.49;SOR=0.606	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1121	9	0	1	0
chr20	62394240	62394240	G	C	exonic	CABLES2	.	nonsynonymous SNV	CABLES2:NM_031215:exon5:c.C631G:p.Q211E	.	.	.	.	.	.	.	.	.	.	.	3428052	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0613659809706	.	.	2.494e-05	0	0	0	0	3.037e-05	0	6.061e-05	1.94e-05	3	154602	rs771284501	2.669e-05	2.668e-05	2.043e-05	3.302e-05	0.0001	1.998e-05	1.755e-05	6.246e-05	4.757e-05	0	0.0001	0	0	0	0	1.169e-05	0.0002	0.0001	1.313e-05	1.312e-05	1.284e-05	1.343e-05	6.533e-05	2.18e-06	8.2e-07	.	.	0	0	6.533e-05	0	0	0	0.0034	0	0	0	0.045	0.40832	D	0.013	0.63109	D	0.858	0.47274	P	0.41	0.44785	B	0.000012	0.62929	D	0.119541	1	0.81001	D	2.63	0.76995	M	0.73	0.50721	T	-1.91	0.44471	N	0.414	0.45426	-0.6525	0.62605	T	0.195	0.54927	T	10	0.34215295	0.51252	T	0.061366	0.68307	D	0.221	0.51721	0.175	0.08135	0.434825671192	0.43100	0.2688563676423325	0.26798	1.22376613677	0.81152	0.628279089928	0.56900	T	0.144926	0.48180	T	-0.153499	0.27767	T	-0.261295	0.48695	T	0.190714166543136	0.19886	T	0.90181	0.65830	D	0.32747856	0.55264	0.2943476	0.55465	0.32747856	0.55264	0.2943476	0.55464	-4.26	0.27612	T	.	.	0.278	0.51121	B	.	.	3.629312	0.51397	23.1	0.99500911973223094	0.68031	0.97317	0.73990	D	AEFGBCI	0.882476	0.81062	D	0.546459969328908	0.69868	5.418377	0.542989693119556	0.70913	5.57538	0.999999999999985	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	5.33	5.33	0.75683	9.459000	0.96801	11.589000	0.93393	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.334000	0.25294	0.0:0.0:1.0:0.0	19.379	0.94513	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	4309.12	34	chr20	62394240	.	G	C	4309.12	.	AC=2;AF=0.1;AN=20;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31;SOR=0.862	GT:AD:DP:GQ:PL	1/1:0,139:139:99:4332,417,0	9	1	0	0
chr20	62656662	62656662	C	T	exonic	SLCO4A1	.	nonsynonymous SNV	SLCO4A1:NM_016354:exon2:c.C208T:p.R70W	.	420	1101	0	1	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00629717700815	0.0002	.	0.0003	0	0.0001	0.0002	0	0.0004	0.0020	0.0002	0.0001682	26	154602	rs200054451	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0001	0	6.848e-05	0.0023	0.0002	3.921e-05	0.0007	0.0001	0.0004	0.0001	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	8.384e-05	2.405e-05	0	6.53e-05	0.0023	0.0006	0.0002	0	0.0002	0.0005	0	0.005	0.63226	D	0.008	0.67890	D	0.997	0.70673	D	0.517	0.48105	P	0.000075	0.00414	N	5.063620	1	0.08975	N	1.04	0.26193	L	0.98	0.42122	T	-3.08	0.63323	D	0.208	0.23125	-1.0010	0.29631	T	0.084	0.32872	T	10	0.023281127	0.00605	T	0.006297	0.16551	T	0.108	0.30607	.	.	0.602001837285	0.59882	0.40409585818787014	0.40325	0.489713154436	0.47727	0.325927197933	0.14319	T	0.247659	0.61734	T	-0.420696	0.01693	T	-0.547243	0.17591	T	0.107744451147869	0.13188	T	0.586841	0.21439	T	0.1302439	0.30397	0.077911854	0.17400	0.1302439	0.30396	0.077911854	0.17400	-5.291	0.39854	T	.	.	0.086	0.11606	B	.;.	.;.	2.833789	0.37365	20.5	0.99738990419462048	0.83337	0.24792	0.22502	N	AEFDBHCI	0.210051	0.33598	N	-0.564148536517401	0.20042	1.053626	-0.758141266452896	0.15522	0.8167826	0.99994174739735	0.47345	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.71	-1.49	0.08259	0.511000	0.22445	0.606000	0.19981	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2706:0.4997:0.1332:0.0965	3.895	0.08640	608	0.67185	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1061.43	33	chr20	62656662	.	C	T	1061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=405;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.376;SOR=0.752	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1085	9	0	1	0
chr20	62657094	62657094	G	A	exonic	SLCO4A1	.	nonsynonymous SNV	SLCO4A1:NM_016354:exon2:c.G640A:p.A214T	.	424	1097	1	0	0	1	0.000455581	.	.	.	2198865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00802692550285	0.0004	0.000399361	0.0010	0.0004	0.0028	0	0	0.0014	0.0040	0	0.0005563	86	154602	rs184112176	0.0005	0.0005	0.0005	0.0005	0.0049	0.0005	0.0004	0.0035	0.0030	0.0005	0.0016	0.0060	2.566e-05	0	0.0049	0.0003	0.0015	1.176e-05	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0007	0.0005	9.62e-05	0	0.0010	0.0052	0	0	0.0102	0.0004	0.0024	0.0004	0.919	0.02315	T	0.583	0.08419	T	0.002	0.09854	B	0.001	0.04355	B	0.035256	0.01799	N	2.209180	1	0.08975	N	-0.265	0.03777	N	1.14	0.38397	T	-0.37	0.13226	N	0.034	0.01135	-1.0790	0.07543	T	0.028	0.11882	T	10	0.0037004054	0.00068	T	0.008027	0.21290	T	0.009	0.00846	.	.	0.195762928549	0.19159	0.33817801998028374	0.33730	0.210088818001	0.23489	0.304499089718	0.11076	T	0.012	0.10324	T	-0.643519	0.00079	T	-0.727226	0.04454	T	0.00367033094755846	0.00039	T	0.355964	0.08087	T	0.0371178	0.04698	0.03891837	0.03866	0.0371178	0.04698	0.03891837	0.03865	-4.212	0.26925	T	.	.	0.062	0.01290	B	.;.	.;.	-0.524265	0.01791	0.138	0.61967128919049363	0.06842	0.05912	0.11864	N	AEFDBCI	0.056838	0.10539	N	-1.33033427514424	0.03334	0.1487158	-1.37099957839821	0.03564	0.1665207	0.999869856751824	0.44398	0.695654	0.57023	0	0.577304	0.33150	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.43	-3.17	0.04882	-0.568000	0.06000	-4.380000	0.02186	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3723:0.1977:0.3297:0.1003	2.112	0.03481	609	0.67094	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006085	0.020619	0.008174	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1191.43	33	chr20	62657094	.	G	A	1191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.367;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.6;SOR=0.744	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1085	9	0	1	0
chr20	62754880	62754880	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon2:c.G910A:p.V304I	.	406	1074	42	0	0	42	0.0191781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	.	0.0062	0.0225639	0.0144	0.0082	0.0088	0.0506	0.0007	0.0101	0.0099	0.0238	0.0103815	1605	154602	rs2273075	0.0081	0.0080	0.0077	0.0085	0.0368	0.0079	0.0079	0.0353	0.0346	0.0072	0.0073	0.0064	0.0368	0.0014	0.0200	0.0061	0.0102	0.0227	0.0090	0.0090	0.0089	0.0091	0.0352	0.0086	0.0084	0.0310	0.0294	0.0072	0	0.0121	0.0049	0.0352	0.0011	0.0204	0.0073	0.0099	0.0300	0.038	0.42783	D	0.11	0.37310	T	0.084	0.24799	B	0.024	0.20255	B	0.007801	0.31194	N	0.254669	0.999893	0.50595	D	1.265	0.31966	L	1.19	0.37578	T	-0.3	0.11913	N	0.182	0.19728	-1.0637	0.10855	T	0.032	0.13898	T	10	0.008374959	0.00190	T	.	.	.	0.193	0.47281	.	.	.	.	0.509259065189681	0.50847	0.376781133715	0.39117	0.539178967476	0.44329	T	0.075811	0.35267	T	-0.421426	0.01675	T	-0.349558	0.39255	T	0.028397520659595	0.01745	T	0.805019	0.45286	T	0.20894349	0.43145	0.2529774	0.50937	0.20894349	0.43145	0.2529774	0.50936	-4.525	0.31214	T	.	.	0.211	0.43949	B	.	.	3.154920	0.42722	21.6	0.99284567613437347	0.58043	0.93323	0.57910	D	AEFDGBCI	0.811549	0.73450	D	-0.283147476488811	0.29799	1.655778	-0.250873902885711	0.29741	1.668761	0.999999972392244	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.602189	0.34648	0	0.579976	0.35079	0	.	.	4.01	4.01	0.45821	6.485000	0.73532	11.428000	0.92732	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.0:0.0:1.0:0.0	16.474	0.83969	856	0.34373	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024267	0.020408	0.029973	0.026316	0.000000	0.000000	0.015432	0.022727	0.1	1326.12	33	chr20	62754880	.	G	A	1326.12	.	AC=2;AF=0.1;AN=20;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.99;SOR=3.086	GT:AD:DP:GQ:PL	1/1:0,37:37:99:1349,111,0	9	1	0	0
chr20	62760170	62760170	G	A	exonic	NTSR1	.	nonsynonymous SNV	NTSR1:NM_002531:exon4:c.G1160A:p.R387Q	.	432	1074	15	1	0	17	0.00785219	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0155135449216	0.0002	0.000399361	0.0006	9.636e-05	0.0006	0	0	0.0002	0	0.0030	0.0005045	78	154602	rs144593693	0.0004	0.0004	0.0002	0.0005	0.0047	0.0003	0.0003	0.0033	0.0028	0	0.0004	0	5.038e-05	0	0.0047	0.0002	0.0007	0.0030	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0001	0.0021	0.0017	2.406e-05	0	0	0	0	0	0.0102	0.0002	0	0.0033	0.086	0.32610	T	0.301	0.20293	T	0.527	0.37646	P	0.063	0.27082	B	0.598508	0.10981	N	0.776441	1	0.08975	N	1.265	0.31966	L	1.18	0.37746	T	-0.66	0.19085	N	0.094	0.07398	-1.0645	0.10666	T	0.040	0.17106	T	10	0.0047889054	0.00101	T	0.015514	0.36282	T	0.086	0.25016	.	.	0.229924730088	0.22615	0.4923813266645538	0.49159	0.351578093821	0.36998	0.211339205503	0.00869	T	0.128948	0.45692	T	-0.549169	0.00295	T	-0.565298	0.15882	T	0.0281949752260124	0.01716	T	0.665633	0.27494	T	0.028310211	0.02149	0.040342845	0.04339	0.028310211	0.02149	0.040342845	0.04339	-4.875	0.35453	T	.	.	0.075	0.05447	B	.	.	1.261590	0.16596	12.64	0.94846945664918647	0.25643	0.77066	0.37852	D	AEFGBCI	0.184983	0.31231	N	-1.14609059208574	0.05844	0.2675029	-1.14255904353463	0.06902	0.3338478	0.00311064925991008	0.09929	0.516011	0.20929	0	0.59043	0.45803	0	0.578056	0.29568	0	0.586402	0.36253	0	.	.	4.43	0.137	0.14085	1.646000	0.36865	0.065000	0.14184	-1.715000	0.00737	0.989000	0.36753	0.000000	0.08366	0.001000	0.02609	0.1479:0.2589:0.5932:0.0	7.262	0.25384	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.003788	0.1	10802.1	38	chr20	62760170	.	G	A	10802.1	.	AC=2;AF=0.1;AN=20;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.04;SOR=1.142	GT:AD:DP:GQ:PL	1/1:0,372:372:99:10825,1115,0	9	1	0	0
chr20	62799019	62799019	G	C	exonic	MRGBP	.	nonsynonymous SNV	MRGBP:NM_018270:exon4:c.G397C:p.D133H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.00656942561252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.112e-06	9.239e-05	6.82e-06	1.378e-06	5.406e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.406e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.62352	D	0.966	0.56202	D	0.707	0.54387	P	0.000038	0.55875	D	0.156761	0.905299	0.36272	D	0.55	0.14455	N	.	.	.	-2.45	0.53577	N	0.342	0.38335	-0.8202	0.53921	T	0.144	0.46587	T	9	0.23870137	0.40996	T	0.006569	0.17329	T	0.236	0.53931	0.057	0.00169	0.295226631146	0.29124	0.2856974752157873	0.28482	2.39889414524	0.97143	0.718333125114	0.69804	T	0.208334	0.56823	T	0.02167	0.54607	T	-0.206649	0.54014	T	0.848781704902649	0.50061	D	0.815218	0.46991	T	0.19818115	0.41711	0.22453395	0.47369	0.19818115	0.41711	0.22453395	0.47368	-6.063	0.46803	T	.	.	0.494	0.64320	A	.	.	5.092635	0.85052	28.5	0.99431126806434078	0.64276	0.91371	0.53399	D	AEFBCI	0.365257	0.45350	N	0.34964454415198	0.58721	4.046143	0.374962083245602	0.60025	4.185745	0.999999999619889	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	3.002000	0.49184	11.386000	0.92637	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	11.864	0.51758	874	0.30607	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	121.05	35	chr20	62799019	.	G	C	121.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.786;DP=732;ExcessHet=0;FS=260.752;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=1.33;SOR=8.086	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	8	0	1	1
chr20	62813521	62813521	G	A	exonic	OGFR	.	nonsynonymous SNV	OGFR:NM_007346:exon7:c.G1906A:p.E636K	.	432	1069	12	1	8	22	0.00650558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.0147520925492	0.0002	0.00119808	4.467e-05	0	0	0	0	0	0	0.0003	6.47e-05	10	154602	rs141833389	0.0002	0.0002	0.0002	0.0003	0.0020	0.0002	0.0002	0.0016	0.0015	0	0.0003	0.0002	0	0	0.0020	0.0001	0.0004	0.0018	0.0003	0.0003	0.0003	0.0004	0.0029	0.0003	0.0002	0.0017	0.0014	2.727e-05	0	0.0006	0.0003	0.0004	0	0	0.0003	0	0.0029	0.0	0.91255	D	0.189	0.32891	T	0.989	0.62824	D	0.414	0.44907	B	.	.	.	.	0.996031	0.42982	D	-0.345	0.03330	N	0.64	0.52867	T	-0.13	0.08971	N	0.092	0.07125	-1.0379	0.17954	T	0.078	0.31012	T	9	0.0072395504	0.00165	T	0.014752	0.35069	T	0.099	0.28413	.	.	0.358340041657	0.35441	0.09033494268068554	0.08966	0.315436995491	0.33822	0.431010186672	0.29347	T	0.006432	0.16810	T	-0.445358	0.01203	T	-0.507588	0.21563	T	0.024594210880279	0.01220	T	0.453055	0.24459	T	0.12535243	0.29388	0.11353322	0.27401	0.12535243	0.29388	0.11353322	0.27400	-8.138	0.62006	D	.	.	0.088	0.25331	B	.;.;.	.;.;.	0.615660	0.09840	6.604	0.97695159505586548	0.35400	0.01551	0.05084	N	AEFBCI	0.041147	0.06216	N	-0.800597508825749	0.13295	0.6539392	-1.01476887837731	0.09460	0.4707727	0.840834699098481	0.24864	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	1.45	0.151	0.14183	-0.146000	0.10233	-0.060000	0.12436	-0.668000	0.04312	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.174:0.0:0.826:0.0	7.297	0.25573	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006104	0.000000	0.002725	0.002976	0.000000	0.008772	0.006250	0.011538	0.05	847.43	37	chr20	62813521	.	G	A	847.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=418;ExcessHet=0;FS=6.594;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.64;MQRankSum=-0.506;QD=12.65;ReadPosRankSum=1.86;SOR=1.488	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,120,1800	9	0	1	0
chr20	63307526	63307526	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon6:c.C533T:p.A178V	.	400	1118	1	0	3	4	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0151199948621	.	.	7.677e-05	0	0	0	0	3.109e-05	0.0012	0.0004	5.82e-05	9	154602	rs768498780	3.835e-05	3.831e-05	2.589e-05	5.094e-05	0.0004	3.029e-05	2.722e-05	0.0003	0.0002	0	0	0	0	0	0.0003	1.709e-05	6.63e-05	0.0004	2.627e-05	2.626e-05	2.568e-05	2.689e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.229	0.20154	T	0.873	0.04571	T	0.003	0.11197	B	0.004	0.10090	B	0.110139	0.19455	N	0.497453	1	0.08975	N	0.145	0.08828	N	-1.14	0.77843	T	-1.81	0.42575	N	0.157	0.16308	-0.9631	0.38586	T	0.183	0.53133	T	10	0.095722616	0.17118	T	0.01512	0.35666	T	0.163	0.42028	0.358	0.36060	0.659689046486	0.65684	0.11606496380848204	0.11534	0.0347258868878	0.03653	0.299514174461	0.10328	T	0.074189	0.34879	T	-0.481884	0.00721	T	-0.613814	0.11677	T	0.0258977482995527	0.01391	T	0.630337	0.24523	T	0.03133635	0.02956	0.048217744	0.07116	0.03133635	0.02955	0.048217744	0.07115	-3.458	0.20194	T	.	.	0.108	0.20547	B	.;.	.;.	0.476614	0.08461	5.220	0.97746682782481153	0.35714	0.03809	0.09143	N	AEFGBI	0.076461	0.15381	N	-1.10377871825932	0.06576	0.3030923	-1.09743743424452	0.07751	0.3782431	5.6264796144962E-5	0.04171	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.92	0.173	0.14321	-0.013000	0.12615	-1.125000	0.06256	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.800000	0.37734	0.0:0.5941:0.0:0.4059	8.414	0.31821	.	.	von Willebrand factor, type A;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1087.43	34	chr20	63307526	.	C	T	1087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.12;DP=412;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.026;SOR=0.525	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1102	9	0	1	0
chr20	63350051	63350051	C	T	exonic	CHRNA4	.	nonsynonymous SNV	CHRNA4:NM_000744:exon5:c.G1360A:p.G454S,CHRNA4:NM_001256573:exon5:c.G832A:p.G278S	Epilepsy, nocturnal frontal lobe, 1, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	.	203653	Inborn_genetic_diseases|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020300,MedGen:C3696898,Orphanet:98784|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.160	0.0745075943865	.	.	0.0009	0	0.0023	0	0	0.0009	0	0.0024	0.000207	32	154602	rs78306886	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	3.231e-05	0.0002	0	0	0.0003	0	0.0002	0.0002	0.0004	0.0002	0.0002	0.0001	0.0002	0.0008	0.0001	8.715e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0002	0	0.0002	0	0.0008	1.0	0.00964	T	0.357	0.18846	T	0.001	0.07471	B	0.001	0.04355	B	0.000000	0.00162	N	23.961300	1	0.08975	N	-0.305	0.03614	N	-0.94	0.75325	T	-0.06	0.07882	N	0.064	0.03613	-0.8873	0.49163	T	0.194	0.54811	T	10	0.015547037	0.00326	T	0.074508	0.72059	D	0.160	0.41473	.	.	0.453772157364	0.45001	0.231048860098491	0.23019	0.397231007556	0.40817	0.37100815773	0.20977	T	0.202893	0.56120	T	-0.461284	0.00965	T	-0.519651	0.20331	T	0.00605308653931316	0.00067	T	0.524448	0.17180	T	0.04909112	0.08663	0.07633782	0.16897	0.04909112	0.08663	0.07633782	0.16897	-3.501	0.16445	T	0.03734474626800161	0.00248	0.065	0.04640	B	.;.	.;.	-0.819570	0.01069	0.047	0.40278633091310984	0.02832	0.01472	0.04908	N	AEFBI	0.058499	0.10979	N	-1.57011433014381	0.01420	0.06194469	-1.5450640880822	0.02010	0.09184581	6.93613943505824E-4	0.07645	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.55	-0.193	0.12593	-0.145000	0.10248	-5.628000	0.01651	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7993:0.0:0.2007	12.235	0.53821	.	.	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000515	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1408.43	114	chr20	63350051	.	C	T	1408.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=1056;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.352;SOR=0.647	GT:AD:DP:GQ:PL	0/0:94,0:94:99:0,120,1800	9	0	1	0
chr20	63521521	63521521	G	A	exonic	PPDPF	.	nonsynonymous SNV	PPDPF:NM_001353423:exon3:c.G65A:p.G22D,PPDPF:NM_024299:exon3:c.G65A:p.G22D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0628913118816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.47320	D	0.054	0.48594	T	1.0	0.90584	D	0.955	0.69585	D	0.000004	0.62929	D	0.105288	0.999903	0.50806	D	2.285	0.65182	M	.	.	.	-4.85	0.84387	D	0.6	0.65758	-0.1776	0.78241	T	0.398	0.75030	T	9	0.4407582	0.58085	T	0.062891	0.68796	D	0.294	0.61388	0.226	0.15109	0.154104182512	0.14974	0.28611654156554023	0.28524	0.549970519472	0.51874	0.776672899723	0.78427	T	0.250608	0.62073	T	0.100446	0.64340	D	-0.0934934	0.63897	T	0.991698861122131	0.82026	D	0.779122	0.41282	T	0.6738382	0.76639	0.6420527	0.79084	0.6738382	0.76640	0.6420527	0.79084	-5.207	0.39013	T	.	.	0.533	0.68830	A	.;.	.;.	3.490397	0.48788	22.7	0.99269076331855632	0.57491	0.98052	0.79193	D	AEFDGBHCI	0.943165	0.94866	D	0.668831547320878	0.77592	6.704466	0.609395759184805	0.75621	6.343103	0.999999999611555	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.83	3.87	0.43823	5.500000	0.66660	9.117000	0.78826	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.1453:0.8547:0.0	14.785	0.69420	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	573.43	33	chr20	63521521	.	G	A	573.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.156;DP=392;ExcessHet=0;FS=3.305;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=0.686;SOR=0.743	GT:AD:DP:GQ:PL	0/1:41,29:70:99:585,0,990	9	0	1	0
chr20	63547160	63547160	C	T	exonic	SRMS	.	nonsynonymous SNV	SRMS:NM_080823:exon1:c.G304A:p.V102M	.	429	1083	9	1	0	11	0.00505282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.247	0.08619345236	0.0008	.	0.0012	0.0004	0.0017	0.0001	0.0003	0.0009	0.0036	0.0035	0.0010155	157	154602	rs138464879	0.0009	0.0009	0.0008	0.0010	0.0042	0.0009	0.0008	0.0031	0.0030	0.0003	0.0010	0	2.526e-05	0.0004	0.0042	0.0008	0.0009	0.0034	0.0006	0.0006	0.0006	0.0006	0.0021	0.0005	0.0005	0.0011	0.0009	0.0003	0	0.0005	0	0	0.0005	0.0034	0.0008	0.0005	0.0021	0.001	0.78490	D	0.003	0.76473	D	0.998	0.73220	D	0.857	0.61067	P	0.000176	0.48594	D	0.000000	0.878905	0.28083	N	4	0.96753	H	0.62	0.53302	T	-2.18	0.49187	N	0.469	0.50508	-0.2543	0.76243	T	0.375	0.73302	T	10	0.051735282	0.05101	T	0.086193	0.74686	D	0.247	0.55478	.	.	0.556733452047	0.55333	0.5273764860082296	0.52661	0.634652527307	0.57311	0.46648401022	0.34199	T	0.269718	0.64193	T	-0.355904	0.04367	T	-0.287373	0.46044	T	0.117160839907432	0.14149	T	0.69903	0.30897	T	0.6387308	0.74763	0.50371265	0.71312	0.6387308	0.74764	0.50371265	0.71313	-9.791	0.72650	D	.	.	0.506	0.64835	A	.	.	3.441952	0.47889	22.5	0.99798441916423419	0.88372	0.60453	0.31200	D	AEFDBI	0.077111	0.15530	N	0.347333977292598	0.58599	4.033104	0.124060493655545	0.45782	2.835346	0.0169534973870808	0.12894	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	1.023000	0.29668	1.456000	0.26643	0.549000	0.26987	0.604000	0.27780	0.839000	0.27283	0.021000	0.11733	0.0:0.8337:0.1663:0.0	12.701	0.56403	.	.	SH3 domain|SH3 domain|SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.006793	0.000000	0.000000	0.000000	0.012270	0.000000	0.05	1434.43	34	chr20	63547160	.	C	T	1434.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.61;DP=456;ExcessHet=0;FS=0.64;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.484;SOR=0.613	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1215	9	0	1	0
chr20	63561117	63561117	G	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon9:c.C5404A:p.L1802I,HELZ2:NM_001037335:exon15:c.C7111A:p.L2371I	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0585356888723	.	.	8.374e-06	0	0	0	0	0	0	6.204e-05	6.5e-06	1	154602	rs764576989	1.301e-05	1.3e-05	5.45e-06	2.064e-05	0.0002	8.32e-06	6.71e-06	0.0001	0.0001	0	0	0	0	0	0	0	1.656e-05	0.0002	6.565e-06	6.561e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.47745	D	0.018	0.59732	D	0.983	0.60381	D	0.913	0.64886	D	0.161766	0.17641	N	0.549745	0.987627	0.40622	D	2.425	0.70256	M	-2.55	0.89561	D	-1.54	0.37375	N	0.52	0.57860	0.642	0.92442	D	0.768	0.92126	D	10	0.51832557	0.62496	D	0.058536	0.67351	D	0.560	0.81946	0.424	0.46857	0.703969262359	0.70140	0.23074138044099424	0.22989	0.748255062631	0.63626	0.546921372414	0.45423	T	0.233758	0.60064	T	-0.0215437	0.48634	T	-0.0871946	0.64373	T	0.819772720336914	0.47756	D	0.837116	0.50934	T	0.30970147	0.53760	0.2425035	0.49672	0.30970147	0.53760	0.2425035	0.49671	-7.865	0.60146	D	.	.	0.210	0.45124	B	.;.	.;.	4.415057	0.68328	25.2	0.99496608126423258	0.67801	0.95500	0.64968	D	AEFDGBI	0.599549	0.59253	D	0.53973155171182	0.69459	5.359908	0.473129793666525	0.66213	4.923157	0.978742033690472	0.29954	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.27	4.27	0.50009	5.533000	0.66873	10.330000	0.83288	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.794000	0.37478	0.0:0.1677:0.8323:0.0	12.579	0.55730	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1169.43	37	chr20	63561117	.	G	T	1169.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.179;DP=547;ExcessHet=0;FS=0.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.161;SOR=0.582	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1257	9	0	1	0
chr20	63561446	63561446	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon8:c.G5150A:p.R1717Q,HELZ2:NM_001037335:exon14:c.G6857A:p.R2286Q	.	425	1087	10	0	0	10	0.00457875	.	.	.	3689219	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.333	0.0711896520816	7.7e-05	.	0.0003	9.899e-05	0.0004	0	0	6.14e-05	0.0012	0.0015	0.0002264	35	154602	rs377628074	0.0002	0.0002	8.186e-05	0.0002	0.0028	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0028	2.07e-05	0.0003	0.0020	5.253e-05	5.249e-05	3.855e-05	6.714e-05	0.0012	2.556e-05	1.829e-05	0.0005	0.0004	2.405e-05	0	0	0	0	0	0	1.471e-05	0	0.0012	0.082	0.33254	T	0.035	0.52389	D	0.999	0.90584	D	0.966	0.79672	D	0.766281	0.09582	N	0.857968	0.971044	0.38842	D	1.325	0.33218	L	-1.54	0.81640	D	-2.26	0.53258	N	0.464	0.54932	-0.2935	0.75167	T	0.536	0.82854	D	10	0.070828885	0.10358	T	0.07119	0.71204	D	0.333	0.65522	.	.	0.671013503938	0.66823	0.5252025767368174	0.52444	0.773432479962	0.64893	0.533091664314	0.43470	T	0.227268	0.59251	T	-0.291813	0.09455	T	-0.216573	0.53067	T	0.0717606276334605	0.08896	T	0.89721	0.64041	D	0.26178193	0.49237	0.13710324	0.32781	0.26178193	0.49237	0.13710324	0.32780	-4.659	0.32904	T	.	.	0.127	0.28750	B	.;.	.;.	4.682045	0.74937	26.2	0.99938172093669664	0.99698	0.96027	0.67203	D	AEFDGBI	0.270643	0.38666	N	0.334820769620035	0.57943	3.963954	0.305031323910823	0.55835	3.746296	0.917380342497508	0.26540	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.46	4.46	0.53567	1.166000	0.31444	3.915000	0.40434	0.549000	0.26987	0.656000	0.28225	0.999000	0.35428	0.952000	0.50033	0.3141:0.6859:0.0:0.0	11.503	0.49697	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1907.43	37	chr20	63561446	.	C	T	1907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.076;DP=595;ExcessHet=0;FS=0.67;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-2.541;SOR=0.604	GT:AD:DP:GQ:PL	0/1:52,75:127:99:1919,0,1215	9	0	1	0
chr20	63562847	63562847	G	C	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_033405:exon3:c.C4268G:p.A1423G,HELZ2:NM_001037335:exon9:c.C5975G:p.A1992G	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0293552788486	0.0019	0.00159744	0.0006	0.0074	0.0006	0	0	0	0	0	0.0004398	68	154602	rs115004564	0.0002	0.0002	0.0002	0.0002	0.0072	0.0002	0.0002	0.0065	0.0062	0.0072	0.0004	0	0	0	0	9.001e-07	0.0006	7.016e-05	0.0017	0.0017	0.0016	0.0018	0.0058	0.0015	0.0015	0.0052	0.0049	0.0058	0	0.0011	0	0	0	0	0	0.0014	0.0002	0.129	0.32769	T	0.049	0.48336	D	0.317	0.32920	B	0.164	0.34953	B	0.050398	0.02011	N	1.899990	1	0.08975	N	2.35	0.67516	M	-1.37	0.80214	T	-1.66	0.41618	N	0.136	0.14196	-0.7444	0.58226	T	0.242	0.61012	T	10	0.007584214	0.00172	T	0.029355	0.51881	D	0.158	0.41098	.	.	0.357519025918	0.35359	0.19286983758689832	0.19204	0.318141264854	0.34044	0.23764424026	0.02582	T	0.034732	0.23438	T	-0.477713	0.00763	T	-0.456089	0.27026	T	0.0128791660437945	0.00221	T	0.327267	0.06786	T	0.09478144	0.22293	0.09677484	0.23008	0.09478144	0.22293	0.09677484	0.23008	-3.582	0.17596	T	.	.	0.087	0.18164	B	.;.	.;.	0.809840	0.11805	8.378	0.91476536918013174	0.20749	0.03021	0.07899	N	AEFDGBHCI	0.064063	0.12417	N	-0.847242135267126	0.12117	0.5887524	-0.945831558238645	0.11019	0.5588422	0.0849718982745498	0.15969	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.48	-0.721	0.10625	-0.706000	0.05149	1.056000	0.23679	0.614000	0.49286	0.000000	0.06391	0.697000	0.26210	0.015000	0.10482	0.0:0.3137:0.3699:0.3164	9.282	0.36894	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.005102	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1338.43	63	chr20	63562847	.	G	C	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=537;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=1.61;SOR=0.706	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1112	9	0	1	0
chr20	63568584	63568584	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon6:c.G1504A:p.A502T	.	396	1124	2	0	0	2	0.000888889	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	0.0059	0.00399361	0.0025	0.0254	0.0012	0.0003	0	3.129e-05	0.0075	0.0005	0.0013519	209	154602	rs61741406	0.0005	0.0005	0.0006	0.0005	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0005	0	2.559e-05	0	0.0009	1.899e-05	0.0010	0.0007	0.0051	0.0051	0.0055	0.0047	0.0183	0.0048	0.0047	0.0172	0.0168	0.0183	0	0.0008	0	0	0	0	1.47e-05	0.0024	0.0006	0.749	0.03598	T	0.988	0.02376	T	0.059	0.23051	B	0.003	0.08700	B	0.125754	0.02765	N	1.765690	1	0.08975	N	0.22	0.09567	N	-1.14	0.77843	T	0.0	0.07008	N	0.032	0.00825	-0.9210	0.45417	T	0.047	0.20275	T	10	0.0034807622	0.00062	T	.	.	.	0.109	0.30843	.	.	0.107399877778	0.10242	0.06021833754805024	0.05961	0.173054112851	0.19489	0.3523671031	0.18269	T	0.015992	0.13307	T	-0.596167	0.00154	T	-0.614193	0.11647	T	0.000890653836295284	0.00008	T	0.443356	0.12326	T	0.07172481	0.15901	0.044105235	0.05638	0.07172481	0.15901	0.044105235	0.05637	-4.13	0.25730	T	.	.	0.072	0.04277	B	.	.	0.690796	0.10597	7.299	0.67948864028608702	0.08508	0.08650	0.14549	N	AEFDGBCI	0.053227	0.09572	N	-1.57227122255346	0.01409	0.06143055	-1.55818833438924	0.01920	0.08759531	0.999999992493442	0.74766	0.72623	0.87236	0	0.594344	0.48745	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.52	-4.86	0.02902	-0.927000	0.04092	-1.103000	0.06322	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1877:0.2152:0.096:0.5011	2.071	0.03395	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.005450	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1426.43	33	chr20	63568584	.	C	T	1426.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.07;DP=424;ExcessHet=0;FS=2.433;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=0.564;SOR=0.954	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1438,0,1444	9	0	1	0
chr20	63693266	63693266	C	T	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon29:c.C2306T:p.P769L,RTEL1:NM_001283009:exon30:c.C2975T:p.P992L,RTEL1:NM_016434:exon30:c.C2975T:p.P992L,RTEL1:NM_032957:exon30:c.C3047T:p.P1016L	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	435	1059	27	1	0	29	0.0135072	.	.	.	430403	not_provided|RTEL1-related_disorder|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3|Dyskeratosis_congenita|not_specified	MedGen:C3661900|.|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032|MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.168	0.139368554332	0.0005	0.00159744	0.0015	0.0012	0.0013	0	0.0005	0.0009	0.0011	0.0058	0.0013648	211	154602	rs143967591	0.0011	0.0011	0.0010	0.0012	0.0096	0.0011	0.0010	0.0075	0.0068	0.0006	0.0012	3.833e-05	0.0003	0.0006	0.0096	0.0008	0.0016	0.0058	0.0009	0.0009	0.0010	0.0009	0.0039	0.0008	0.0008	0.0026	0.0021	0.0011	0	0.0010	0.0003	0.0004	0.0006	0.0034	0.0007	0.0024	0.0039	0.467	0.08559	T	0.529	0.11335	T	0.0	0.02946	B	0.0	0.04355	B	0.047948	0.01979	N	2.248960	1	0.08975	N	-0.205	0.04094	N	-1.43	0.80730	T	-0.83	0.22727	N	0.116	0.15609	-0.8145	0.54275	T	0.210	0.56946	T	10	0.00494954	0.00106	T	0.139369	0.82185	D	0.168	0.42943	.	.	0.362933182269	0.35899	0.2539474739144245	0.25308	.	.	0.239184051752	0.02718	T	0.10823	0.42109	T	-0.465828	0.00903	T	-0.439156	0.28903	T	0.0011363816984353	0.00011	T	0.686731	0.29555	T	0.02644599	0.01702	0.022959659	0.00313	0.029458098	0.02445	0.0238321	0.00396	-4.261	0.31538	T	.	.	0.074	0.06341	B	.;.;.;.	.;.;.;.	0.401937	0.07734	4.412	0.81152595751285961	0.13545	0.02960	0.07796	N	AEFDGBCI	0.046712	0.07786	N	-1.0342140388468	0.07900	0.3686039	-0.98034880072449	0.10227	0.5137404	0.995874279844285	0.34380	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.592323	0.36904	0	.	.	4.82	2.6	0.30173	-0.461000	0.06789	-0.549000	0.08539	-0.989000	0.01856	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4287:0.2354:0.3359	2.886	0.05314	.	.	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010070	0.015152	0.016304	0.008772	0.050000	0.000000	0.003049	0.007634	0.05	1264.43	38	chr20	63693266	.	C	T	1264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=439;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-1.954;SOR=0.882	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1159	9	0	1	0
chr20	63950763	63950763	C	T	exonic	UCKL1	.	nonsynonymous SNV	UCKL1:NM_001193379:exon1:c.G64A:p.G22S,UCKL1:NM_001353478:exon1:c.G64A:p.G22S,UCKL1:NM_001353479:exon1:c.G64A:p.G22S	.	425	1093	3	1	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0206429885906	.	.	0.0001	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs760083748	1.444e-05	1.436e-05	4.275e-06	2.488e-05	0.0002	9.43e-06	7.67e-06	0.0002	0.0001	0	0	0	0	0	0	0	1.743e-05	0.0002	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.535	0.06913	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.36	0.03700	N	0.184	0.19995	-1.0606	0.11607	T	0.071	0.28969	T	7	0.055994898	0.06209	T	0.020643	0.43275	T	0.142	0.37995	0.106	0.01810	0.274366138417	0.27033	.	.	.	.	.	.	.	.	.	.	-0.271662	0.11572	T	-0.426277	0.30358	T	0.0721273689152892	0.08946	T	0.458654	0.13238	T	.	.	.	.	.	.	.	.	-3.491	0.16306	T	.	.	0.078	0.07036	B	.	.	1.957981	0.24871	16.56	0.93640051453406525	0.23519	0.88842	0.48968	D	AEFDBI	0.214506	0.33997	N	-0.505787128826175	0.21893	1.165149	-0.387746015072379	0.25362	1.394237	0.999850595431066	0.44174	0.580535	0.33130	0	0.379588	0.06130	0	0.576033	0.28219	0	0.528226	0.09195	0	.	.	5.18	1.05	0.19280	1.191000	0.31747	1.046000	0.23597	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.912000	0.44740	0.0:0.6905:0.0:0.3095	8.126	0.30159	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1000.43	35	chr20	63950763	.	C	T	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.321;DP=386;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.659;SOR=1.059	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1136	9	0	1	0
chr20	64098464	64098464	C	T	exonic	OPRL1	.	nonsynonymous SNV	OPRL1:NM_001318854:exon3:c.C763T:p.R255C,OPRL1:NM_001318855:exon3:c.C691T:p.R231C,OPRL1:NM_000913:exon4:c.C778T:p.R260C,OPRL1:NM_182647:exon5:c.C778T:p.R260C,OPRL1:NM_001200019:exon6:c.C778T:p.R260C	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.234719722198	.	.	2.498e-05	0	0.0002	0	0	1.524e-05	0	0	1.94e-05	3	154602	rs760977529	1.3e-05	1.3e-05	1.226e-05	1.376e-05	0.0002	8.32e-06	6.7e-06	8.35e-06	5.03e-06	0	4.472e-05	0	5.038e-05	0	0.0002	1.169e-05	0	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.175	0.88760	M	0.9	0.45248	T	-6.38	0.91100	D	0.792	0.78927	0.113	0.84402	D	0.406	0.75550	T	10	0.88268244	0.87584	D	0.23472	0.88423	D	0.556	0.81717	0.588	0.71623	0.732983785101	0.73060	0.7639484260437474	0.76342	1.72559754066	0.90647	0.831435918808	0.86782	D	0.724651	0.92245	D	0.114476	0.65813	D	0.102507	0.77075	D	0.99365907907486	0.84541	D	0.99516	0.98354	D	0.73064345	0.79760	0.45076546	0.68040	0.73064345	0.79761	0.45076546	0.68040	-10.285	0.75600	D	.	.	0.690	0.72561	P	.;.;.	.;.;.	4.848068	0.79215	27.1	0.99929505253814566	0.99279	0.97027	0.72267	D	AEFGBI	0.759799	0.69802	D	0.905448811775916	0.92023	11.19185	0.771000155418814	0.87717	9.319009	0.999901213991562	0.45458	0.516011	0.20929	0	0.588066	0.40923	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.75	4.75	0.59954	5.887000	0.69494	7.667000	0.64568	0.578000	0.29377	1.000000	0.71638	1.000000	0.68203	0.197000	0.21808	0.1632:0.8367:0.0:0.0	12.843	0.57200	.	.	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1904.43	42	chr20	64098464	.	C	T	1904.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.253;DP=456;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.664;SOR=0.711	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1367	9	0	1	0
chr21	10414916	10414921	GTTTCG	-	splicing	BAGE;BAGE4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0039	0.0008	0.0009	0.0017	0.0008	0.0008	0.0014	0.0013	0.0015	0.0002	0.0011	0.0002	0.0004	0.0012	0.0008	0.0009	0.0017	5.37e-05	0.0013	6.559e-05	4.124e-05	0.0002	2.606e-05	1.865e-05	6.423e-05	4.391e-05	0.0001	0	0	0	0	0	0	1.494e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	46.51	51	chr21	10414915	.	AGTTTCG	A	46.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=648;ExcessHet=0;FS=8.451;InbreedingCoeff=-0.0619;MLEAC=1;MLEAF=0.05;MQ=56.23;MQRankSum=-6.227;QD=0.91;ReadPosRankSum=-2.295;SOR=3.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:157,0:157:7:.:.:0,7,3868:.	9	0	1	0
chr21	10598062	10598062	G	A	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon16:c.G910A:p.V304I,TPTE:NM_199260:exon19:c.G1210A:p.V404I,TPTE:NM_199259:exon20:c.G1270A:p.V424I,TPTE:NM_199261:exon21:c.G1324A:p.V442I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.000335182877044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.32355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.20262	.	.	.	.	.	.	.	0.13273898	0.25264	T	.	.	.	.	.	.	.	.	.	0.6662978554120151	0.66567	.	.	.	.	.	0.160745	0.50472	T	.	.	.	.	.	.	.	.	.	0.743726	0.36333	T	.	.	.	.	.	.	.	.	-4.108	0.25511	T	.	.	0.081	0.08465	B	.;.;.;.	.;.;.;.	0.357605	0.07303	3.914	.	.	.	.	.	.	0.022413	0.01117	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.082000	0.11268	-0.533000	0.08625	0.318000	0.19305	0.005000	0.17040	0.000000	0.08366	0.035000	0.13729	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	870.43	39	chr21	10598062	.	G	A	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.981;DP=613;ExcessHet=0;FS=2.736;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=-0.465;SOR=0.907	GT:AD:DP:GQ:PL	0/1:179,53:232:99:882,0,4406	9	0	1	0
chr21	10598093	10598093	C	T	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon16:c.C941T:p.S314L,TPTE:NM_199260:exon19:c.C1241T:p.S414L,TPTE:NM_199259:exon20:c.C1301T:p.S434L,TPTE:NM_199261:exon21:c.C1355T:p.S452L	.	424	1070	27	1	0	29	0.0133702	0.0004	0.332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs147105244	0.0007	0.0018	0.0005	0.0010	0.0076	0.0007	0.0007	0.0071	0.0069	0	0.0004	0.0013	7.568e-05	5.619e-05	0.0033	0.0003	0.0008	0.0076	0.0006	0.0013	0.0005	0.0007	0.0080	0.0005	0.0005	0.0060	0.0053	4.809e-05	0	0.0002	0.0012	0.0004	0	0	0.0006	0.0014	0.0080	.	.	.	0.272	0.27503	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.19593	.	.	.	.	.	.	.	0.014126092	0.00298	T	.	.	.	.	.	.	.	.	.	0.7574105861191883	0.75689	.	.	.	.	.	0.256782	0.62774	T	.	.	.	.	.	.	.	.	.	0.650435	0.26116	T	.	.	.	.	.	.	.	.	-4.445	0.31767	T	.	.	0.082	0.11558	B	.;.;.;.	.;.;.;.	-0.601585	0.01567	0.104	.	.	.	.	.	.	0.019152	0.00640	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.468000	0.02456	-6.787000	0.01306	-1.838000	0.00583	0.010000	0.18352	0.000000	0.08366	0.011000	0.09372	.	.	.	.	.	.;Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain|Tensin phosphatase, C2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	339.43	39	chr21	10598093	.	C	T	339.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.31;DP=560;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.92;MQRankSum=0.46;QD=2.07;ReadPosRankSum=-0.439;SOR=0.671	GT:AD:DP:GQ:PL	0/0:53,0:53:99:0,117,1755	9	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	5620.14	246	chr21	13610400	.	A	G	5620.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.693;DP=883;ExcessHet=0.2348;FS=4.048;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.7;MQRankSum=-0.347;QD=9.88;ReadPosRankSum=1.21;SOR=0.484	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1360	8	0	2	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1360	1	4	5	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1360	1	4	5	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	3455.14	34	chr21	13615163	.	G	A	3455.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.399;DP=605;ExcessHet=0.2348;FS=0.848;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=49.27;MQRankSum=0.479;QD=10.9;ReadPosRankSum=-0.23;SOR=0.642	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1139	8	0	2	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1068	1	5	4	0
chr21	14165268	14165268	A	G	exonic	LIPI	.	nonsynonymous SNV	LIPI:NM_001379566:exon4:c.T361C:p.C121R,LIPI:NM_001302999:exon5:c.T766C:p.C256R,LIPI:NM_001302998:exon6:c.T856C:p.C286R,LIPI:NM_001303000:exon6:c.T856C:p.C286R,LIPI:NM_001303001:exon6:c.T856C:p.C286R,LIPI:NM_001379565:exon6:c.T751C:p.C251R,LIPI:NM_198996:exon6:c.T721C:p.C241R	.	429	1090	3	0	0	3	0.00137426	.	.	.	728831	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.453	.	0.0088	0.00399361	0.0063	0.0016	0.0042	0	0.0033	0.0095	0.0022	0.0025	0.0066105	1022	154602	rs61740029	0.0099	0.0099	0.0101	0.0096	0.0119	0.0097	0.0097	0.0117	0.0116	0.0011	0.0044	0.0042	0	0.0037	0.0010	0.0119	0.0086	0.0022	0.0067	0.0067	0.0073	0.0060	0.0108	0.0063	0.0062	0.0102	0.0099	0.0021	0.0241	0.0065	0.0049	0	0.0032	0.0034	0.0108	0.0047	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99997	0.58761	D	.	.	.	-3.13	0.92829	D	-11.74	0.99533	D	0.98	0.99015	0.356	0.88435	D	0.526	0.82341	D	10	0.05239618	0.05268	T	.	.	.	0.688	0.88632	.	.	0.814061361237	0.81231	0.9542252053832736	0.95406	0.159454785147	0.17994	0.611117839813	0.54473	T	.	.	.	-0.116582	0.33684	T	0.0701491	0.74921	D	0.0998211030086485	0.12338	T	0.643636	0.25529	T	.	.	.	.	.	.	.	.	-13.633	0.91803	D	.	.	0.860	0.81379	P	.;.;.	.;.;.	4.867907	0.79722	27.2	0.99750364855468099	0.84228	0.96754	0.70760	D	AEFBI	0.651918	0.62550	D	0.602693383792135	0.73343	5.950911	0.601728392906544	0.75064	6.245096	0.277532713214437	0.18955	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	6.042000	0.70632	11.034000	0.85096	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	13.845	0.62958	.	.	.;Lipase/vitellogenin|Lipase, N-terminal;Lipase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	1019.43	33	chr21	14165268	.	A	G	1019.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-1.143;SOR=0.771	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr21	14643004	14643004	C	T	exonic	LOC388813	.	nonsynonymous SNV	LOC388813:NM_001256579:exon1:c.G70A:p.V24M	.	432	1070	19	1	0	21	0.00971772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00175089071758	.	0.00279553	0.0036	0.0033	0	0	0.0012	0.0062	0	0.0027	0.0017335	268	154602	rs149223740	0.0066	0.0059	0.0067	0.0065	0.0090	0.0064	0.0063	0.0087	0.0086	0.0030	0.0058	0.0030	0.0002	0.0019	0.0079	0.0090	0.0075	0.0032	0.0063	0.0063	0.0065	0.0061	0.0095	0.0060	0.0058	0.0089	0.0087	0.0035	0	0.0071	0.0020	0.0004	0.0013	0.0136	0.0095	0.0066	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-1.0206	0.23519	T	0.025	0.10509	T	6	0.008035332	0.00182	T	0.001751	0.02960	T	.	.	.	.	.	.	.	.	.	.	0.215360105038	0.01059	T	.	.	.	-0.646999	0.00075	T	-0.692751	0.06231	T	0.00160834843911263	0.00016	T	0.365963	0.08520	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16626	B	.	.	-0.340433	0.02445	0.279	0.29110385859559285	0.01528	0.00345	0.01785	N	AEFBI	0.027808	0.02338	N	-0.806131300588514	0.13153	0.6459952	-0.98692861124557	0.10078	0.505361	4.82889593819539E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.13	-3.21	0.04823	-0.877000	0.04305	-3.100000	0.03061	-1.738000	0.00705	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.151:0.4624:0.0:0.3867	5.757	0.17447	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	393.43	34	chr21	14643004	.	C	T	393.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.886;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.42;ReadPosRankSum=0.2;SOR=0.603	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1268	9	0	1	0
chr21	25764321	25764321	A	G	exonic	GABPA	.	nonsynonymous SNV	GABPA:NM_001197297:exon8:c.A914G:p.E305G,GABPA:NM_002040:exon8:c.A914G:p.E305G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.0180818427994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.167	0.30729	T	0.19	0.29379	B	0.039	0.23607	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.55	0.14455	N	2.6	0.13204	T	-1.79	0.42191	N	0.603	0.62103	-1.0283	0.21005	T	0.025	0.10553	T	10	0.3582465	0.52521	T	0.018082	0.40021	T	0.172	0.43662	0.331	0.31681	0.742730295511	0.74041	0.4257130083918205	0.42488	1.47514625927	0.86607	0.768245518208	0.77162	T	0.180483	0.53183	T	0.0563434	0.59152	T	-0.156843	0.58634	T	0.916794955730438	0.57436	D	0.834817	0.50404	T	0.17643984	0.38556	0.15619034	0.36579	0.17643984	0.38556	0.15619034	0.36578	-3.793	0.20700	T	.	.	0.816	0.79359	P	.;.	.;.	3.850678	0.55778	23.7	0.99746106330811402	0.83852	0.99166	0.92202	D	AEFBI	0.698568	0.65620	D	-0.0487975545162843	0.39656	2.342139	0.124104303685892	0.45785	2.835536	0.999997454474262	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	8.351000	0.89975	11.242000	0.90457	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	1.0:0.0:0.0:0.0	14.231	0.65437	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	291.43	36	chr21	25764321	.	A	G	291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.573;DP=267;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.093;SOR=0.283	GT:AD:DP:GQ:PL	0/1:10,13:23:99:303,0,237	9	0	1	0
chr21	26838216	26838216	C	T	exonic	ADAMTS1	.	nonsynonymous SNV	ADAMTS1:NM_006988:exon9:c.G2267A:p.R756Q	.	422	1087	13	0	0	13	0.00594422	.	.	.	705638	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.312	0.0291091008039	0.0042	0.00119808	0.0031	0.0011	0.0012	0	0.0005	0.0034	0.0044	0.0070	0.0030207	467	154602	rs139455257	0.0041	0.0041	0.0040	0.0042	0.0069	0.0040	0.0040	0.0064	0.0062	0.0010	0.0012	0.0002	2.519e-05	0.0002	0.0028	0.0045	0.0039	0.0069	0.0024	0.0024	0.0026	0.0023	0.0056	0.0022	0.0021	0.0040	0.0034	0.0010	0	0.0014	0.0003	0	0.0002	0.0034	0.0040	0.0014	0.0056	0.158	0.23905	T	0.088	0.40586	T	0.801	0.45051	P	0.487	0.47260	P	.	.	.	.	1	0.81001	D	2.095	0.58118	M	0.72	0.50976	T	-2.61	0.56144	D	0.647	0.65844	-1.0438	0.16177	T	0.117	0.41231	T	9	0.010748833	0.00238	T	0.029109	0.51676	D	0.312	0.63375	.	.	0.928679246179	0.92795	0.7245277106677015	0.72396	0.972859814527	0.73445	0.513216793537	0.40671	T	0.198505	0.55551	T	-0.0848249	0.38927	T	0.108825	0.77494	D	0.0514258731636441	0.05748	T	0.887811	0.61653	D	0.1266369	0.29655	0.15958975	0.37212	0.1266369	0.29655	0.15958975	0.37211	-7.421	0.57052	T	.	.	0.157	0.34645	B	.	.	4.924088	0.81125	27.5	0.99954715456572385	0.99969	0.96197	0.67980	D	AEFGBHCI	0.916561	0.88293	D	0.493642975419749	0.66716	4.986438	0.580926636614329	0.73573	5.992638	1.0	0.98316	0.706548	0.73137	0	0.573888	0.26702	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.568000	0.81546	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:1.0:0.0:0.0	19.914	0.97044	834	0.38640	ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.005848	0.000000	0.000000	0.006098	0.003788	0.05	815.43	34	chr21	26838216	.	C	T	815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.817;DP=380;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.875;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr21	28883019	28883019	G	C	exonic	N6AMT1	.	nonsynonymous SNV	N6AMT1:NM_013240:exon2:c.C187G:p.L63V,N6AMT1:NM_182749:exon2:c.C187G:p.L63V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.00891996860619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.374e-06	1.368e-06	1.367e-06	1.381e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.182	0.29249	T	0.267	0.31683	B	0.344	0.42549	B	0.000001	0.84330	D	0.000000	0.99971	0.48481	D	.	.	.	2.05	0.23884	T	-1.67	0.39887	N	0.269	0.36779	-1.0807	0.07214	T	0.068	0.27980	T	10	0.20549509	0.36778	T	0.00892	0.23511	T	0.136	0.36778	0.605	0.73706	0.202086224978	0.19791	0.7500008193765506	0.74947	0.239248816487	0.26478	0.644442617893	0.59196	T	0.111245	0.42658	T	-0.079276	0.39832	T	-0.351651	0.39015	T	0.84197324514389	0.49489	D	0.875412	0.58680	D	0.60526603	0.72974	0.5888658	0.76149	0.60526603	0.72975	0.5888658	0.76150	-9.033	0.68121	D	.	.	0.169	0.37121	B	.;.	.;.	2.771450	0.36384	20.2	0.99316977462789324	0.59241	0.89172	0.49478	D	AEFGBI	0.392277	0.47039	N	-0.0539261731293429	0.39426	2.324906	0.0466809789711405	0.41912	2.525989	0.999999075343646	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.34	4.45	0.53365	1.334000	0.33433	6.584000	0.56006	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0802:0.0:0.7645:0.1553	8.181	0.30469	964	0.07719	Methyltransferase small domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	575.43	34	chr21	28883019	.	G	C	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.849;DP=361;ExcessHet=0;FS=2.471;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.08;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,858	9	0	1	0
chr21	29109172	29109172	T	C	exonic	MAP3K7CL	.	nonsynonymous SNV	MAP3K7CL:NM_001286622:exon6:c.T41C:p.V14A	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.00194930159095	.	0.000199681	0.0020	0	0	0	.	0	0	0.0028	0.0001423	22	154602	rs538220559	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0030	0.0028	0	2.802e-05	0	2.799e-05	0	0.0004	7.416e-06	0.0002	0.0033	0.0001	0.0001	3.855e-05	0.0002	0.0039	8.661e-05	7.253e-05	0.0026	0.0021	0	0	0	0	0	0	0	1.47e-05	0	0.0039	0.471	0.08458	T	0.939	0.02701	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.19	0.09965	N	0.054	0.02559	-1.0110	0.26604	T	0.034	0.14639	T	5	0.004681319	0.00098	T	0.001949	0.03482	T	0.002	0.00045	0.139	0.04277	0.0401082797425	0.02173	.	.	.	.	.	.	.	.	.	.	-0.640687	0.00083	T	-0.696444	0.06023	T	0.012846215165365	0.00219	T	0.262774	0.04248	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.08320	B	.	.	-0.020509	0.04144	0.990	0.90858427092068716	0.20107	0.00509	0.02386	N	AEFBI	0.040911	0.06150	N	-0.843000800571133	0.12223	0.5944701	-1.05645863391295	0.08572	0.4221408	0.795041696218687	0.24084	0.554377	0.28877	0	0.547309	0.14657	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.95	-0.836	0.10225	-0.679000	0.05304	0.813000	0.21772	0.571000	0.28931	0.000000	0.06391	0.005000	0.19230	0.027000	0.12703	0.0:0.1876:0.2927:0.5197	2.474	0.04293	971	0.05719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	786.43	37	chr21	29109172	.	T	C	786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.185;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.25;ReadPosRankSum=-1.068;SOR=0.711	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1160	9	0	1	0
chr21	30396143	30396152	GCACTACCCA	-	exonic	KRTAP13-1	.	frameshift deletion	KRTAP13-1:NM_181599:exon1:c.57_66del:p.H20Pfs*78	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.000998403	0.0026	0.0005	0.0005	0	0.0014	0.0030	0.0022	0.0053	0.0003074	8	26028	rs536788134	0.0029	0.0029	0.0028	0.0031	0.0061	0.0029	0.0028	0.0057	0.0055	0.0003	0.0007	7.659e-05	0	0.0009	0.0033	0.0032	0.0025	0.0061	0.0018	0.0018	0.0019	0.0016	0.0062	0.0016	0.0015	0.0045	0.0039	0.0006	0	0.0007	0	0	0.0009	0.0034	0.0028	0.0014	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4991.39	359	chr21	30396142	.	TGCACTACCCA	T	4991.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.427;DP=703;ExcessHet=0;FS=2.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=-1.1;SOR=0.744	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr21	30613897	30613897	C	T	exonic	KRTAP6-1	.	nonsynonymous SNV	KRTAP6-1:NM_181602:exon1:c.G8A:p.G3D	.	.	.	.	.	.	.	.	.	.	.	4156154	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0189204305692	.	0.000199681	9.067e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs527457966	3.831e-05	3.831e-05	2.45e-05	5.225e-05	0.0005	3.025e-05	2.719e-05	0.0004	0.0004	0	0	0	0	0	0	0	0.0001	0.0005	4.596e-05	4.594e-05	3.854e-05	5.372e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	0.024	0.56640	D	0.004	0.12183	B	0.011	0.15521	B	0.251838	0.15493	U	0.483859	0.999671	0.20721	N	.	.	.	1.46	0.32238	T	-6.75	0.92692	D	0.337	0.37820	-1.0209	0.23421	T	0.058	0.24354	T	9	0.022904575	0.00584	T	0.01892	0.41136	T	0.112	0.31546	0.127	0.03251	0.195762928549	0.19159	0.047844842746216386	0.04727	0.18329890864	0.20616	.	.	.	0.08128	0.36559	T	-0.440711	0.01281	T	-0.499742	0.22374	T	0.0624964587059831	0.07556	T	0.367163	0.08573	T	0.6390804	0.74782	0.5801334	0.75664	0.6390804	0.74783	0.5801334	0.75665	-7.041	0.54332	T	.	.	0.424	0.60884	A	.	.	3.347642	0.46161	22.3	0.9293642945531253	0.22504	0.70455	0.34597	D	AEFBI	0.071182	0.14161	N	-0.240359810034576	0.31489	1.766245	-0.138437120263132	0.33856	1.941131	4.48301353246486E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.7	2.79	0.31792	0.750000	0.25999	1.258000	0.25213	0.589000	0.31548	0.952000	0.33172	0.001000	0.17328	0.939000	0.47918	0.0:0.7984:0.0:0.2016	8.760	0.33829	489	0.76795	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1249.43	33	chr21	30613897	.	C	T	1249.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.171;DP=449;ExcessHet=0;FS=2.517;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=-0.171;SOR=0.977	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	0	1	0
chr21	30746967	30746967	T	G	exonic	KRTAP21-2	.	nonsynonymous SNV	KRTAP21-2:NM_181617:exon1:c.A236C:p.Y79S	.	427	1088	7	0	0	7	0.0032066	.	.	.	2337610	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.0125015625829	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0013	0.000194	30	154602	rs199587941	0.0002	0.0002	0.0001	0.0002	0.0035	0.0002	0.0001	0.0023	0.0019	5.975e-05	4.472e-05	0	0	0	0.0035	9.445e-05	0.0002	0.0013	7.883e-05	7.875e-05	3.856e-05	0.0001	0.0012	4.496e-05	3.511e-05	0.0005	0.0004	0	0	0	0	0	0	0	8.82e-05	0	0.0012	0.0	0.91255	D	0.199	0.27679	T	0.232	0.30664	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-7.29	0.94457	D	0.238	0.26837	-1.0061	0.28126	T	0.065	0.27017	T	7	0.017139673	0.00364	T	0.012502	0.31128	T	0.031	0.07369	.	.	0.0611884634855	0.05136	0.13285876787855533	0.13209	0.351425158729	0.36983	.	.	.	0.028245	0.20504	T	-0.40337	0.02200	T	-0.392723	0.34233	T	0.0935192221244569	0.11630	T	0.330567	0.06924	T	0.5106307	0.67716	0.55563015	0.74298	0.5106307	0.67717	0.55563015	0.74299	-6.012	0.46381	T	.	.	0.163	0.36073	B	.	.	1.619543	0.20688	14.86	0.80495402631002511	0.13230	0.03952	0.09354	N	AEFI	0.048546	0.08294	N	-0.743499015063855	0.14810	0.740958	-0.830323738216004	0.13761	0.7156483	1.73413948463077E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.5	-0.635	0.10934	-0.397000	0.07329	-3.238000	0.02945	0.572000	0.28966	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.336:0.2041:0.4599	3.764	0.08136	528	0.73785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001554	0.000000	0.000000	0.003497	0.000000	0.000000	0.006098	0.000000	0.05	1184.43	34	chr21	30746967	.	T	G	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.795;DP=435;ExcessHet=0;FS=3.34;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.409;SOR=0.61	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1244	9	0	1	0
chr21	32270528	32270528	C	T	exonic	MIS18A	.	nonsynonymous SNV	MIS18A:NM_018944:exon3:c.G403A:p.V135I	.	.	.	.	.	.	.	.	0.0001	0.004	.	3285957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00371735885598	.	0.000199681	0.0001	0	0	0	0	0	0.0012	0.0010	0.0001035	16	154602	rs573480187	6.593e-05	6.772e-05	3.977e-05	9.259e-05	0.0010	5.477e-05	5.076e-05	0.0008	0.0008	3.338e-05	0	0	2.647e-05	0	0.0009	3.698e-06	6.983e-05	0.0010	7.227e-05	7.219e-05	2.571e-05	0.0001	0.0010	3.971e-05	3.127e-05	0.0004	0.0003	4.816e-05	0	0.0002	0	0	9.445e-05	0	0	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.132095	0.18599	N	0.559047	1	0.08975	N	-2.25	0.00109	N	.	.	.	0.01	0.06868	N	0.114	0.10198	-0.9974	0.30646	T	0.013	0.05033	T	9	0.012464076	0.00268	T	0.003717	0.08620	T	0.036	0.09122	0.115	0.02372	0.260249123532	0.25628	0.14620334094660384	0.14542	0.198902131425	0.22280	0.352131724358	0.18236	T	0.018652	0.14999	T	-0.651437	0.00071	T	-0.777343	0.02534	T	0.0170158532187352	0.00450	T	0.457454	0.13149	T	0.010790694	0.00010	0.022905108	0.00308	0.010790694	0.00010	0.022905108	0.00308	-3.158	0.11975	T	.	.	0.054	0.00321	B	.	.	-0.612840	0.01537	0.099	0.40692670841993728	0.02888	0.00805	0.03273	N	AEFBI	0.019719	0.00711	N	-2.01114989650396	0.00200	0.008577398	-1.93819948571869	0.00411	0.01815399	0.452193116273034	0.20550	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	-6.82	0.01537	-1.095000	0.03466	-3.966000	0.02422	-0.695000	0.04090	0.006000	0.17386	0.000000	0.08366	0.452000	0.27939	0.247:0.4822:0.0:0.2707	6.728	0.22557	902	0.24074	Yippee/Mis18/Cereblon|Mis18 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1	1191.14	33	chr21	32270528	.	C	T	1191.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.07;DP=357;ExcessHet=0.2348;FS=1.928;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.252;SOR=0.97	GT:AD:DP:GQ:PL	0/1:16,20:36:99:544,0,361	8	0	2	0
chr21	32314646	32314646	C	T	exonic	MRAP	.	nonsynonymous SNV	MRAP:NM_206898:exon5:c.C302T:p.A101V	Glucocorticoid deficiency 2, Autosomal recessive	1	1459	60	2	0	64	0.0214621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0008	0.00259585	0.0045	0.0003	0.0053	0	0.0003	0.0026	0.0077	0.0179	0.0040103	620	154602	rs140113354	0.0029	0.0029	0.0023	0.0034	0.0182	0.0028	0.0028	0.0166	0.0164	0.0002	0.0029	0.0047	2.519e-05	0.0004	0.0182	0.0019	0.0034	0.0174	0.0018	0.0018	0.0017	0.0019	0.0135	0.0016	0.0015	0.0109	0.0099	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0135	0.0	0.91255	D	0.606	0.07791	T	0.259	0.31472	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	.	.	.	-2.28	0.87512	D	-0.85	0.23156	N	0.107	0.09207	-0.5881	0.65296	T	0.406	0.75579	T	8	0.0033186674	0.00057	T	.	.	.	0.074	0.21613	.	.	0.68305478711	0.68035	.	.	.	.	.	.	.	.	.	.	-0.414334	0.01861	T	-0.353658	0.38785	T	0.0168495364615181	0.00438	T	0.246275	0.03611	T	.	.	.	.	.	.	.	.	-4.201	0.26766	T	.	.	0.103	0.18622	B	.	.	0.334611	0.07086	3.655	0.47159206942495985	0.03834	0.02825	0.07564	N	AEFDBI	0.029273	0.02734	N	-0.966890229928245	0.09318	0.4404703	-1.08494191079485	0.07996	0.3912705	0.955570176257896	0.28197	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	2.81	0.89	0.18352	-0.665000	0.05386	-1.620000	0.05046	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5902:0.2624:0.1474	4.015	0.09128	928	0.17405	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.013458	0.005051	0.009511	0.003472	0.000000	0.034483	0.015244	0.045455	0.05	1021.43	34	chr21	32314646	.	C	T	1021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.401;DP=407;ExcessHet=0;FS=1.698;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.917;SOR=0.968	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1101	9	0	1	0
chr21	32316543	32316543	C	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon38:c.G6557A:p.R2186Q	.	409	1106	7	0	0	7	0.00315457	.	.	.	2289858	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0103097684326	.	.	0.0003	0	0	0	0	0.0004	0	0.0003	3.88e-05	6	154602	rs750760039	0.0001	0.0001	9.736e-05	0.0001	0.0061	9.827e-05	9.286e-05	0.0045	0.0040	9.497e-05	8.416e-05	3.978e-05	0	0	0.0061	9.178e-05	0.0002	6.319e-05	7.877e-05	7.874e-05	6.422e-05	9.398e-05	0.0001	4.493e-05	3.509e-05	6.804e-05	5.087e-05	0	0	0	0	0	9.407e-05	0.0034	0.0001	0.0005	0	0.656	0.04757	T	0.575	0.08654	T	0.0	0.02946	B	0.0	0.01387	B	0.721426	0.06316	N	1.121610	1	0.08975	N	0.41	0.12415	N	1.55	0.29866	T	0.03	0.06612	N	0.06	0.03175	-1.0074	0.27727	T	0.040	0.17106	T	10	0.022277921	0.00552	T	0.01031	0.26698	T	0.009	0.00846	.	.	0.0401082797425	0.02173	0.0359903506912357	0.03546	.	.	0.280670166016	0.07585	T	0.002712	0.02105	T	-0.57452	0.00208	T	-0.778321	0.02505	T	0.00385126192122698	0.00041	T	0.530047	0.17581	T	0.021470916	0.00751	0.024107015	0.00426	0.021470916	0.00751	0.024107015	0.00426	-3.68	0.19023	T	.	.	0.068	0.02797	B	.	.	0.101126	0.05025	1.576	0.68141817188798681	0.08568	0.08420	0.14351	N	AEFBCI	0.040360	0.05994	N	-1.44206179393607	0.02280	0.1005058	-1.42407571421138	0.03013	0.1397349	0.744262638977223	0.23260	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.31	0.429	0.15721	-0.066000	0.11556	-0.577000	0.08396	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.155000	0.20479	0.125:0.3863:0.2326:0.2561	2.136	0.03534	927	0.17636	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002994	0.000000	0.000000	0.008000	0.000000	0.000000	0.005208	0.000000	0.05	971.43	94	chr21	32316543	.	C	T	971.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.99;DP=404;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.631;SOR=0.82	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1147	9	0	1	0
chr21	32347148	32347148	G	A	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon22:c.C3676T:p.R1226C	.	424	1090	7	1	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0139858086451	.	.	0.0007	0	0	0	0	0	0.0059	0.0014	0.0001035	16	154602	rs566480854	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0024	0.0020	0	0.0002	0	8.404e-05	6.311e-05	0.0036	0.0002	0.0003	0.0011	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	2.405e-05	0	0	0	0.0004	0	0	0.0003	0	0.0010	0.088	0.32296	T	0.073	0.43159	T	0.013	0.16609	B	0.002	0.06944	B	0.295019	0.14699	N	0.685094	1	0.08975	N	1.67	0.42885	L	1.49	0.31470	T	-0.55	0.16799	N	0.141	0.14054	-1.0117	0.26385	T	0.060	0.25054	T	10	0.015949696	0.00335	T	0.013986	0.33799	T	0.083	0.24192	.	.	0.151104730317	0.14643	0.2508486468843186	0.24998	.	.	0.426046043634	0.28667	T	0.003401	0.02809	T	-0.439323	0.01305	T	-0.444367	0.28320	T	0.0157934838937721	0.00368	T	0.741726	0.36078	T	0.039382458	0.05427	0.024635432	0.00487	0.039382458	0.05427	0.024635432	0.00487	-5.307	0.40012	T	.	.	0.141	0.30868	B	.	.	1.335046	0.17408	13.15	0.98348237711314268	0.40517	0.21038	0.21259	N	AEFDBCI	0.107616	0.21435	N	-0.764975208257251	0.14229	0.7071454	-0.763300947918621	0.15396	0.8095159	0.998610620642537	0.37309	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.78	1.59	0.22622	0.455000	0.21555	0.331000	0.17284	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.1194:0.1232:0.2209:0.5366	2.819	0.05128	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	855.43	57	chr21	32347148	.	G	A	855.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=448;ExcessHet=0;FS=4.504;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=1.16;SOR=1.056	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,119,1388	9	0	1	0
chr21	32363296	32363296	A	T	exonic	URB1	.	nonsynonymous SNV	URB1:NM_014825:exon11:c.T1369A:p.S457T	.	431	1045	45	1	0	47	0.0219934	.	.	.	728857	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.093	.	0.0013	0.00279553	0.0090	0.0005	0.0049	0	0.0006	0.0026	0.0083	0.0211	0.0017141	265	154602	rs148292685	0.0028	0.0027	0.0023	0.0033	0.0188	0.0027	0.0027	0.0173	0.0170	0.0002	0.0023	0.0046	0	0.0003	0.0188	0.0018	0.0034	0.0181	0.0018	0.0018	0.0017	0.0019	0.0158	0.0017	0.0016	0.0129	0.0119	0.0002	0	0.0014	0.0066	0.0004	0	0.0034	0.0022	0.0009	0.0158	0.097	0.30943	T	0.0	0.92824	D	0.639	0.40375	P	0.122	0.32387	B	0.000169	0.48594	D	0.142475	0.991012	0.41288	D	1.655	0.42436	L	0.9	0.45248	T	-1.25	0.31576	N	0.441	0.47949	-1.0521	0.13818	T	0.087	0.33606	T	10	0.009563148	0.00215	T	.	.	.	0.093	0.26882	.	.	0.251639045875	0.24756	0.45412995113789095	0.45330	.	.	0.485400110483	0.36802	T	0.007222	0.06635	T	-0.498359	0.00584	T	-0.473039	0.25191	T	0.0195881834834753	0.00662	T	0.570043	0.20293	T	0.043129303	0.06666	0.06393683	0.12740	0.043129303	0.06665	0.06393683	0.12740	-3.765	0.20282	T	.	.	0.088	0.11701	B	.	.	2.918152	0.38732	20.8	0.96721356231228084	0.30851	0.93408	0.58137	D	AEFBI	0.135822	0.25629	N	0.00294503760619186	0.41990	2.521621	0.0258237115526748	0.40916	2.449694	0.998509834216329	0.37090	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.22	2.65	0.30588	3.666000	0.54277	3.057000	0.36144	-0.042000	0.17409	0.997000	0.40164	0.975000	0.29991	0.425000	0.27339	0.7241:0.1411:0.0:0.1348	8.033	0.29634	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013614	0.005263	0.008621	0.008850	0.000000	0.045455	0.023256	0.048780	0.05	1338.43	33	chr21	32363296	.	A	T	1338.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=420;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.92;SOR=0.737	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1095	9	0	1	0
chr21	32657057	32657057	G	A	exonic	SYNJ1	.	nonsynonymous SNV	SYNJ1:NM_001160306:exon19:c.C2510T:p.T837I,SYNJ1:NM_001160302:exon20:c.C2525T:p.T842I,SYNJ1:NM_003895:exon20:c.C2642T:p.T881I,SYNJ1:NM_203446:exon20:c.C2525T:p.T842I	Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	848697	not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_53|Early-onset_Parkinson_disease_20	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530,Orphanet:391411	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.170161897134	.	0.000399361	7.457e-05	0	0	0	0	0	0	0.0005	7.12e-05	11	154602	rs370346211	6.499e-05	6.498e-05	3.811e-05	9.213e-05	0.0010	5.428e-05	5.041e-05	0.0009	0.0008	2.987e-05	0	0	0	0	0	8.993e-07	6.623e-05	0.0010	5.252e-05	5.25e-05	1.285e-05	9.397e-05	0.0017	2.555e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.01	0.65419	D	0.01	0.65728	D	0.467	0.43456	P	0.202	0.49371	B	0.000001	0.84330	D	0.092891	0.894488	0.36027	D	1.12	0.28775	L	-3.63	0.95111	D	-2.66	0.56945	D	0.313	0.55019	0.673	0.92839	D	0.751	0.91497	D	10	0.08629921	0.14656	T	0.170162	0.84779	D	0.406	0.71869	0.422	0.46529	0.846954497262	0.84548	0.6152318850786243	0.61455	0.415776360612	0.42219	0.580437779427	0.50148	T	0.350693	0.71840	T	-0.148802	0.28500	T	-0.0683042	0.65747	T	0.155103711639064	0.17502	T	0.953905	0.83719	D	.	.	.	.	.	.	.	.	-11.718	0.83451	D	.	.	0.374	0.62951	A	.;.;.;.;.	.;.;.;.;.	4.133230	0.61874	24.4	0.99822974172537482	0.90590	0.89407	0.49853	D	AEFGBI	0.372457	0.45809	N	0.220569650358205	0.52196	3.395398	0.327619498307801	0.57169	3.881734	0.902870059822372	0.26138	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.64	4.67	0.58089	1.578000	0.36135	8.334000	0.76984	0.618000	0.50648	0.987000	0.36337	1.000000	0.68203	0.990000	0.65344	0.0:0.1066:0.6496:0.2438	9.856	0.40253	751	0.51694	.;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase;Endonuclease/exonuclease/phosphatase|Inositol polyphosphate-related phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	773.43	34	chr21	32657057	.	G	A	773.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=373;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=1.51;SOR=0.616	GT:AD:DP:GQ:PL	0/1:30,31:61:99:785,0,715	9	0	1	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.05	1342.43	51	chr21	33252732	.	C	G	1342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=517;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.16;SOR=0.692	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1159	9	0	1	0
chr21	33511272	33511272	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon17:c.G2294A:p.S765N,GART:NM_001136005:exon17:c.G2294A:p.S765N,GART:NM_001136006:exon17:c.G2294A:p.S765N	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00820754106356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.272	0.15930	T	0.306	0.19972	T	0.0	0.02946	B	0.001	0.04355	B	0.176279	0.17229	N	0.636881	0.999991	0.08975	N	1.28	0.32218	L	2.26	0.17596	T	-0.39	0.13611	N	0.063	0.03502	-1.0089	0.27261	T	0.027	0.11485	T	10	0.10317451	0.18953	T	0.008208	0.21750	T	0.043	0.11576	0.407	0.44066	0.28297238246	0.27903	0.48847452550041665	0.48767	0.0932375999117	0.10540	0.283710420132	0.08014	T	0.033211	0.22818	T	-0.378459	0.03186	T	-0.781407	0.02411	T	0.0548483468592167	0.06333	T	0.865913	0.56597	D	0.060211282	0.12327	0.058340997	0.10762	0.060211282	0.12327	0.058340997	0.10762	-5.351	0.40445	T	.	.	0.071	0.04681	B	.;.;.	.;.;.	0.876676	0.12494	9.028	0.95456144974075263	0.26983	0.12858	0.17522	N	AEFBHCI	0.057872	0.10816	N	-0.601692097044202	0.18894	0.9845847	-0.516177651924343	0.21714	1.175958	0.999999999508274	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	2.26	0.27418	0.041000	0.13813	0.195000	0.15787	0.599000	0.40250	0.027000	0.20232	0.008000	0.19753	0.661000	0.32996	0.0:0.4465:0.1676:0.386	4.549	0.11505	929	0.16858	PurM-like, C-terminal domain;PurM-like, C-terminal domain;PurM-like, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	858.43	34	chr21	33511272	.	C	T	858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.875;DP=384;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.34;SOR=0.434	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr21	33524824	33524824	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon11:c.G1243A:p.A415T,GART:NM_001136005:exon11:c.G1243A:p.A415T,GART:NM_001136006:exon11:c.G1243A:p.A415T,GART:NM_175085:exon11:c.G1243A:p.A415T	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0544425870304	0.0002	0.00119808	0.0002	0.0009	0.0003	0	0	2.997e-05	0	0.0004	0.0001746	27	154602	rs148363571	8.345e-05	8.345e-05	5.989e-05	0.0001	0.0006	7.136e-05	6.684e-05	0.0004	0.0004	0.0006	0.0001	0.0002	0	0	0.0003	5.126e-05	0.0001	0.0002	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	8.712e-05	0.0002	0.0002	0.0003	0	0.0002	0	0	0	0	5.88e-05	0	0.0004	0.037	0.43085	D	0.045	0.49390	D	0.982	0.60036	D	0.89	0.63157	P	0.000004	0.62929	D	0.139432	0.999995	0.58761	D	3.09	0.87444	M	0.95	0.43279	T	-2.85	0.60029	D	0.605	0.62273	-0.3460	0.73669	T	0.245	0.61412	T	10	0.060266852	0.07376	T	0.054443	0.65859	D	0.189	0.46613	.	.	0.710170224331	0.70764	0.9191495130300564	0.91890	0.497233381256	0.48218	0.389250665903	0.23564	T	0.303184	0.67555	T	-0.212753	0.18994	T	-0.200651	0.54585	T	0.255277395248413	0.23108	T	0.989645	0.96613	D	0.9070178	0.92018	0.64263934	0.79116	0.9070178	0.92019	0.64263934	0.79117	-7.64	0.58589	D	.	.	0.105	0.27613	B	.;.;.;.	.;.;.;.	4.439403	0.68917	25.3	0.9993264388546651	0.99439	0.93447	0.58241	D	AEFGBCI	0.572086	0.57581	D	0.711158570239974	0.80365	7.277985	0.652726950825859	0.78815	6.952593	0.999866711936813	0.44398	0.719381	0.83141	0	0.702456	0.74545	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.03	5.14	0.70008	4.522000	0.60254	5.904000	0.50927	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2502:0.7498:0.0:0.0	15.573	0.76096	933	0.16026	Phosphoribosylglycinamide synthetase, C-domain|Phosphoribosylglycinamide synthetase, C-domain;Phosphoribosylglycinamide synthetase, C-domain|Phosphoribosylglycinamide synthetase, C-domain;Phosphoribosylglycinamide synthetase, C-domain|Phosphoribosylglycinamide synthetase, C-domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1174.43	33	chr21	33524824	.	C	T	1174.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.906;DP=487;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.12;SOR=0.823	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1530	9	0	1	0
chr21	33584623	33584623	T	C	exonic	DONSON	.	nonsynonymous SNV	DONSON:NM_017613:exon4:c.A752G:p.D251G	.	438	1073	11	0	0	11	0.00509968	.	.	.	1618712	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.196	.	0.0004	0.00499201	0.0016	0	0.0003	0.0001	0	0.0005	0.0011	0.0094	0.0014295	221	154602	rs61746119	0.0008	0.0008	0.0005	0.0011	0.0092	0.0008	0.0007	0.0087	0.0085	0	0.0002	0.0020	0	0	0.0026	0.0002	0.0012	0.0092	0.0006	0.0006	0.0004	0.0009	0.0126	0.0005	0.0005	0.0101	0.0092	2.405e-05	0	0.0001	0.0014	0	0	0.0034	0.0003	0	0.0126	0.019	0.50676	D	0.012	0.63918	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.02	0.55341	M	.	.	.	-3.84	0.72240	D	0.898	0.92084	-0.7652	0.57121	T	0.240	0.60821	T	9	0.0062004626	0.00140	T	.	.	.	0.476	0.76816	.	.	0.322230723748	0.31824	0.719153784804947	0.71858	0.533437684241	0.50783	0.43575078249	0.29996	T	0.126613	0.45311	T	0.0888978	0.63065	D	0.361175	0.90746	D	0.0890702401571597	0.11107	T	0.935006	0.75689	D	0.4511943	0.64116	0.43886068	0.67257	0.43606895	0.63149	0.40685904	0.65048	-3.24	0.12976	T	0.6100828284705221	0.67763	0.454	0.73351	A	.;.;.;.	.;.;.;.	4.735504	0.76313	26.5	0.99811261483971392	0.89531	0.95228	0.63913	D	AEFDBHCIJ	0.932795	0.92368	D	0.382170591986687	0.60456	4.234693	0.47903973225008	0.66602	4.97361	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.99	5.99	0.97299	7.465000	0.79922	7.898000	0.73400	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0:0.0:0.0:1.0	16.156	0.81479	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	953.43	33	chr21	33584623	.	T	C	953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.018;DP=392;ExcessHet=0;FS=3.106;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.853;SOR=1.151	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1119	9	0	1	0
chr21	34142562	34142562	G	A	exonic	MRPS6	.	nonsynonymous SNV	MRPS6:NM_032476:exon3:c.G340A:p.A114T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00136263175261	0.0002	0.000399361	0.0001	0	0.0005	0	0	0.0002	0	0	0.0001294	20	154602	rs144194646	0.0001	0.0001	0.0001	9.548e-05	0.0004	8.966e-05	8.447e-05	0.0001	0.0001	0	0.0003	0.0002	0	1.876e-05	0.0004	0.0001	8.321e-05	0	0.0001	0.0001	0.0001	0.0001	0.0002	7.09e-05	5.746e-05	0.0001	7.897e-05	4.813e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.012	0.54683	D	0.175	0.29945	T	0.368	0.34048	B	0.024	0.20255	B	0.008018	0.31069	U	0.201711	0.999243	0.21461	N	0	0.06538	N	.	.	.	-0.31	0.12099	N	0.139	0.13769	-1.0470	0.15246	T	0.048	0.20474	T	9	0.042699546	0.03045	T	0.001363	0.01961	T	0.062	0.17934	.	.	0.258283824007	0.25425	0.36948550286020254	0.36862	0.0411319730794	0.04411	0.439434826374	0.30500	T	0.014866	0.12575	T	-0.370312	0.03578	T	-0.463727	0.26195	T	0.092785087202824	0.11544	T	0.59504	0.22051	T	0.09823937	0.23170	0.10380659	0.24915	0.09823937	0.23169	0.10380659	0.24914	-4.908	0.35825	T	.	.	0.078	0.06896	B	.	.	3.853675	0.55844	23.7	0.99654432638005097	0.77505	0.91557	0.53779	D	AEFBI	0.711140	0.66468	D	-0.0561075331776499	0.39328	2.317571	0.136347361053265	0.46423	2.889	0.999969972998893	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	3.404000	0.52371	9.829000	0.81850	0.618000	0.50648	0.999000	0.42656	1.000000	0.68203	0.883000	0.42306	0.0:0.0:1.0:0.0	17.222	0.86843	404	0.82510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	886.43	34	chr21	34142562	.	G	A	886.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=398;ExcessHet=0;FS=2.799;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-0.728;SOR=1.042	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1100	9	0	1	0
chr21	34449517	34449604	CGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	-	exonic	KCNE1	.	frameshift deletion	KCNE1:NM_001127670:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001270404:exon2:c.31_118del:p.P11Afs*24,KCNE1:NM_001127668:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001127669:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270402:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270403:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_001270405:exon3:c.31_118del:p.P11Afs*24,KCNE1:NM_000219:exon4:c.31_118del:p.P11Afs*24	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	200	1278	43	1	0	45	0.017301	.	.	.	1192622	Long_QT_syndrome_5|not_provided	MONDO:MONDO:0013372,MedGen:C1867904,OMIM:613695,Orphanet:101016,Orphanet:768|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0045	0.0059	0.0042	0.0048	0.0232	0.0044	0.0043	0.0215	0.0208	0.0079	0.0037	0.0084	0.0232	0.0086	0.0043	0.0035	0.0070	0.0035	0.0025	0.0089	0.0026	0.0023	0.0035	0.0022	0.0021	0.0028	0.0026	0.0035	0	0.0008	0.0023	0.0031	0.0013	0	0.0026	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32.33	34	chr21	34449516	.	CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG	C	32.33	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.376;DP=411;ExcessHet=0.7463;FS=9.758;InbreedingCoeff=-0.2229;MLEAC=3;MLEAF=0.15;MQ=37.95;MQRankSum=3.73;QD=0.21;ReadPosRankSum=-3.041;SOR=0.246	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,32:42:10:0|1:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:10,0,310:34449516	7	0	3	0
chr21	34449523	34449523	T	0	exonic	KCNE1	.	.	.	Jervell and Lange-Nielsen syndrome 2, Autosomal recessive;Long QT syndrome 5, Autosomal dominant	406	907	114	84	11	293	0.134542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	578.65	19	chr21	34449523	.	T	*	578.65	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=38.22;MQRankSum=-1.178;QD=3.38;ReadPosRankSum=-1.652;SOR=2.266	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,22:27:12:1|0:34449516_CCGTCACTGCTGCGGGGGGACCTGCGGGCCAGGCCCGACATGTTGCCACCCTGCTGAACTGTCTCCTGCCACAGCTTGGTCAGAAAGGG_C:595,165,110:34449516	4	0	6	0
chr21	34614827	34614827	T	C	exonic	RCAN1	.	nonsynonymous SNV	RCAN1:NM_004414:exon1:c.A185G:p.Q62R	.	380	1139	3	0	0	3	0.00131521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.352371672104	.	0.00119808	5.636e-05	0	0	0	0	0	0	0.0001	4.53e-05	7	154602	rs528556911	6.192e-05	9.029e-05	3.986e-05	8.445e-05	0.0011	5.1e-05	4.691e-05	0.0005	0.0003	0.0003	5.959e-05	0	0.0001	0	0.0011	4.565e-05	0.0002	0.0001	7.31e-05	7.227e-05	5.197e-05	9.52e-05	0.0012	4.015e-05	3.159e-05	0.0005	0.0003	0	0	0	0	0.0012	0	0	5.933e-05	0	0.0002	0.193	0.20912	T	0.383	0.15842	T	0.0	0.02946	B	0.002	0.06944	B	0.683929	0.10235	N	0.854787	0.987265	0.24534	N	0.205	0.09354	N	.	.	.	-0.78	0.21644	N	0.072	0.04547	-1.0782	0.07701	T	0.059	0.24539	T	9	0.015578955	0.00327	T	0.352372	0.92302	D	0.078	0.22779	0.474	0.55020	0.082315109003	0.07666	.	.	0.48447268662	0.47353	0.838611245155	0.87883	D	0.274951	0.64747	T	-0.252364	0.13810	T	-0.60028	0.12788	T	0.0196221726740328	0.00665	T	0.531447	0.17660	T	0.10386237	0.24551	0.09591569	0.22769	0.10386237	0.24550	0.09591569	0.22768	-3.332	0.14153	T	.	.	0.077	0.06387	B	.	.	2.772777	0.36401	20.2	0.80761896155542157	0.13356	0.00662	0.02865	N	AEFDGBHCI	0.089112	0.18063	N	-0.771476851365781	0.14058	0.6971962	-0.625457403382101	0.18840	1.008225	0.9999986752979	0.74766	0.72623	0.87236	0	0.516746	0.08562	0	0.594344	0.31042	0	0.581474	0.35302	0	.	.	4.47	2.1	0.26226	0.517000	0.22539	3.047000	0.36105	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.21:0.0:0.79	6.304	0.20335	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	590.43	37	chr21	34614827	.	T	C	590.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.42;DP=383;ExcessHet=0;FS=0.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.01;SOR=0.826	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1040	9	0	1	0
chr21	34707978	34707978	A	G	exonic	CLIC6	.	nonsynonymous SNV	CLIC6:NM_053277:exon3:c.A1519G:p.T507A,CLIC6:NM_001317009:exon4:c.A1573G:p.T525A	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0211265738612	0.0009	0.000599042	0.0008	0.0003	0.0016	0	0	0.0010	0.0011	0.0007	0.0007568	117	154602	rs139243173	0.0011	0.0011	0.0011	0.0011	0.0017	0.0011	0.0011	0.0012	0.0012	0.0001	0.0009	3.826e-05	0	0.0002	0.0017	0.0013	0.0009	0.0012	0.0006	0.0006	0.0007	0.0006	0.0025	0.0005	0.0005	0.0014	0.0011	9.623e-05	0	0.0006	0	0	0	0.0034	0.0010	0.0005	0.0025	0.088	0.32296	T	0.055	0.46862	T	0.993	0.65571	D	0.742	0.55764	P	0.000026	0.55875	N	0.155567	0.999992	0.58761	D	0.775	0.19437	N	1.84	0.24656	T	-4.03	0.74348	D	0.245	0.37197	-1.1007	0.04008	T	0.051	0.21533	T	10	0.034312516	0.01635	T	0.021127	0.43850	T	0.213	0.50496	.	.	0.442160178816	0.43838	0.7894766188904496	0.78899	0.267909689989	0.29325	0.674465298653	0.63475	T	0.11274	0.42924	T	-0.415308	0.01834	T	-0.376602	0.36119	T	0.10248014716043	0.12628	T	0.79512	0.43772	T	0.09950454	0.23483	0.16087513	0.37448	0.09950454	0.23483	0.16087513	0.37448	-9.721	0.72224	D	.	.	0.458	0.62621	A	.;.	.;.	2.976203	0.39681	21.0	0.98812437915864837	0.46639	0.92332	0.55467	D	AEFDGBCIJ	0.612170	0.60034	D	0.0106295143422893	0.42338	2.549078	-0.0198506048603544	0.38820	2.292602	0.999999985517809	0.74766	0.730579	0.87903	0	0.749866	0.99406	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	4.96	2.6	0.30173	5.295000	0.65488	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.856000	0.40543	0.8542:0.0:0.1458:0.0	9.334	0.37202	730	0.54327	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1086.43	48	chr21	34707978	.	A	G	1086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.733;DP=437;ExcessHet=0;FS=1.977;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.09;ReadPosRankSum=-0.919;SOR=0.489	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	9	0	1	0
chr21	36200470	36200470	G	A	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon4:c.G460A:p.G154S,DOP1B:NM_005128:exon4:c.G460A:p.G154S	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	0.0918726912692	.	.	8.394e-06	0	0	0	0	1.52e-05	0	0	6.5e-06	1	154602	rs762797534	5.482e-06	6.156e-06	6.819e-06	4.132e-06	4.647e-05	2.36e-06	1.7e-06	1.585e-05	9.31e-06	0	0	0	2.521e-05	0	0	2.699e-06	0	4.647e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.5	0.92762	M	1.32	0.35219	T	-5.49	0.85765	D	0.951	0.95956	-0.4797	0.69377	T	0.283	0.65518	T	9	0.95739955	0.95114	D	0.091873	0.75787	D	0.745	0.91198	0.849	0.95143	0.567930657579	0.56458	0.7225848242704457	0.72202	0.722103867686	0.62260	0.737989425659	0.72676	T	0.35969	0.72605	T	0.303291	0.83229	D	0.213366	0.83836	D	0.997385680675507	0.91430	D	0.971503	0.89686	D	0.89659727	0.91081	0.8612076	0.92262	0.89659727	0.91082	0.8612076	0.92262	-8.006	0.61111	D	.	.	0.369	0.57756	A	.	.	5.182189	0.86891	29.1	0.99865267607797581	0.94366	0.95602	0.65379	D	AEFHCI	0.905258	0.85656	D	0.809302949783422	0.86686	8.965226	0.733318709348504	0.84906	8.424852	0.999999999999987	0.74766	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.42	5.42	0.78666	9.392000	0.96616	11.651000	0.93884	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.0:0.0:1.0:0.0	18.557	0.91044	858	0.34001	Dopey, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1149.43	35	chr21	36200470	.	G	A	1149.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.56;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=1.02;SOR=0.775	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr21	36227869	36227869	G	A	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon13:c.G1657A:p.G553R,DOP1B:NM_005128:exon13:c.G1657A:p.G553R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00673894076384	7.7e-05	0.000199681	0.0002	0.0002	0.0002	0.0027	0	0	0	8.074e-05	0.0002135	33	154602	rs149661750	0.0001	0.0001	0.0001	0.0001	0.0009	9.441e-05	8.918e-05	0.0006	0.0006	0.0002	6.873e-05	0	0.0009	5.725e-05	0	9.174e-05	6.711e-05	5.878e-05	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0.0001	0	6.541e-05	0	0.0029	0	0	5.881e-05	0	0	0.075	0.34444	T	0.228	0.25286	T	0.028	0.19712	B	0.003	0.08700	B	0.277604	0.15005	N	0.708493	1	0.08975	N	1.555	0.39373	L	2.76	0.11515	T	-2.4	0.52776	N	0.257	0.29081	-1.0503	0.14313	T	0.025	0.10777	T	10	0.007016301	0.00160	T	0.006739	0.17812	T	0.092	0.26621	0.14	0.04369	0.335661160332	0.33175	0.33454221900335	0.33367	0.214305633905	0.23962	0.32979029417	0.14902	T	0.064311	0.32400	T	-0.602924	0.00140	T	-0.638019	0.09815	T	0.0306286106787079	0.02088	T	0.728227	0.34274	T	0.057524756	0.11460	0.12513292	0.30153	0.057524756	0.11459	0.12513292	0.30153	-2.606	0.06549	T	.	.	0.091	0.12938	B	.	.	2.090485	0.26594	17.17	0.96372018990722708	0.29587	0.22991	0.21930	N	AEFBI	0.066979	0.13144	N	-0.513331684074508	0.21648	1.150424	-0.464414110180385	0.23141	1.260477	0.249000846881698	0.18659	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.76	5.76	0.90726	0.411000	0.20836	0.945000	0.22881	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.125000	0.19370	0.0713:0.0:0.6702:0.2585	8.665	0.33276	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	830.43	35	chr21	36227869	.	G	A	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.252;DP=361;ExcessHet=0;FS=4.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=2.27;SOR=0.223	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1128	9	0	1	0
chr21	36230523	36230523	C	T	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon14:c.C1739T:p.S580L,DOP1B:NM_005128:exon14:c.C1739T:p.S580L	.	431	1088	3	0	0	3	0.00137678	.	.	.	3238084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00994026296851	0.0004	.	0.0003	0	8.637e-05	0	0.0003	0.0004	0	0.0003	0.000207	32	154602	rs146572771	0.0001	0.0001	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	0	4.472e-05	0	0	5.616e-05	0.0021	0.0001	0.0002	0.0001	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0003	0	0	0	0	0.0003	0.0005	0	0.183	0.21718	T	0.279	0.21745	T	0.005	0.12996	B	0.003	0.08700	B	0.149236	0.02949	N	1.556230	1	0.08975	N	0.55	0.14455	N	2.73	0.11839	T	-1.95	0.45222	N	0.144	0.14480	-0.9977	0.30563	T	0.036	0.15378	T	10	0.058980614	0.07019	T	0.00994	0.25878	T	0.029	0.06676	.	.	0.329282125956	0.32538	0.24036934410187832	0.23950	0.156531399099	0.17672	0.304702430964	0.11106	T	0.04866	0.28082	T	-0.576136	0.00203	T	-0.756488	0.03240	T	0.0361699829434695	0.03011	T	0.761924	0.38711	T	0.04846713	0.08453	0.043917168	0.05571	0.04846713	0.08452	0.043917168	0.05571	-3.854	0.21614	T	.	.	0.065	0.01884	B	.	.	1.329643	0.17347	13.11	0.98525918688448855	0.42533	0.28390	0.23541	N	AEFBI	0.080241	0.16219	N	-0.8094847032285	0.13068	0.6411911	-0.825407331804636	0.13880	0.7224161	0.00716703349470812	0.11400	0.651	0.46895	0	0.588066	0.40923	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	5.43	2.63	0.30420	1.520000	0.35506	0.388000	0.17857	-0.284000	0.06380	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.0:0.6604:0.1306:0.2089	6.483	0.21272	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	1103.43	33	chr21	36230523	.	C	T	1103.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.519;DP=389;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=-0.104;SOR=0.602	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1020	9	0	1	0
chr21	37006839	37006839	G	A	exonic	RIPPLY3	.	nonsynonymous SNV	RIPPLY3:NM_018962:exon1:c.G67A:p.A23T	.	474	1046	2	0	0	2	0.00095511	.	.	.	2333987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0065489234023	.	0.000199681	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs557394652	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0001	0.0016	0.0012	0	0.0002	0	0	0	0.0031	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0	0	0.0002	0	0	0	0	0.0005	0.0005	0	0.108	0.29420	T	0.349	0.17531	T	0.394	0.34702	B	0.026	0.20792	B	0.059770	0.02125	U	2.820420	1	0.08975	N	0	0.06538	N	.	.	.	-0.83	0.22727	N	0.055	0.02658	-1.0660	0.10316	T	0.049	0.20868	T	9	0.029904068	0.01117	T	0.006549	0.17272	T	0.040	0.10527	0.132	0.03662	0.0611884634855	0.05136	0.049011800206637125	0.04844	0.0676350951414	0.07558	0.750515222549	0.74523	T	0.072425	0.34450	T	-0.510843	0.00496	T	-0.639503	0.09705	T	0.0999114435331745	0.12348	T	0.40126	0.10220	T	0.03112217	0.02895	0.0414903	0.04728	0.03112217	0.02895	0.0414903	0.04728	-4.881	0.35521	T	.	.	0.102	0.17869	B	.	.	1.603868	0.20502	14.78	0.94129667382370374	0.24312	0.14212	0.18283	N	AEFDBHCI	0.031538	0.03394	N	-1.07497522863407	0.07107	0.3291705	-1.13752857555176	0.06994	0.3385866	0.99997031537233	0.50053	0.495885	0.18260	0	0.475579	0.06741	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	2.65	0.726	0.17401	0.988000	0.29216	1.100000	0.24060	-0.339000	0.05715	0.002000	0.15269	0.116000	0.22850	0.004000	0.06068	0.1435:0.2409:0.6155:0.0	4.112	0.09534	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008600	0.000000	0.010417	0.029762	0.000000	0.000000	0.000000	0.000000	0.05	91.57	18	chr21	37006839	.	G	A	91.57	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=85;ExcessHet=0;FS=0;InbreedingCoeff=-0.0649;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=-1.718;SOR=1.609	GT:AD:DP:GQ:PL	0/0:9,0:9:27:0,27,250	9	0	1	0
chr21	39199440	39199440	C	T	exonic	BRWD1	.	nonsynonymous SNV	BRWD1:NM_018963:exon40:c.G4976A:p.R1659Q,BRWD1:NM_033656:exon40:c.G4976A:p.R1659Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.330	0.0693917241771	.	.	8.245e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs750065928	1.847e-05	1.915e-05	2.178e-05	1.513e-05	5.038e-05	1.265e-05	1.084e-05	1.543e-05	1.304e-05	0	0	0	5.038e-05	0	0	2.248e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.045	0.49390	D	1.0	0.90584	D	0.992	0.80445	D	0.000006	0.62929	D	0.000000	0.962637	0.38302	D	2.85	0.82803	M	-0.13	0.76948	T	-1.33	0.33197	N	0.37	0.56058	0.301	0.87577	D	0.629	0.86972	D	10	0.34526125	0.51503	T	0.069392	0.70717	D	0.330	0.65226	0.419	0.46036	0.832964583142	0.83137	0.24392766923892148	0.24306	0.41255547397	0.41996	0.475422501564	0.35427	T	0.219999	0.58317	T	-0.045109	0.45187	T	-0.0768707	0.65132	T	0.922413170337677	0.58255	D	0.940606	0.83579	D	0.39125502	0.60121	0.33677104	0.59475	0.39125502	0.60121	0.33677104	0.59474	-6.034	0.46563	T	.	.	0.194	0.59628	B	.;.;.	.;.;.	5.135573	0.85965	28.8	0.99952600565060323	0.99957	0.97982	0.78620	D	AEFBI	0.475932	0.51956	N	0.758734146323218	0.83475	8.026614	0.730422036595429	0.84689	8.36241	0.999999999480687	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.51	5.51	0.81769	5.015000	0.63798	7.638000	0.63056	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.632	0.88011	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1560.43	128	chr21	39199440	.	C	T	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.09;DP=511;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.399;SOR=0.716	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr21	39420735	39420735	C	T	exonic	LCA5L	.	nonsynonymous SNV	LCA5L:NM_001384292:exon4:c.G556A:p.E186K,LCA5L:NM_001384294:exon4:c.G556A:p.E186K,LCA5L:NM_001384295:exon5:c.G556A:p.E186K,LCA5L:NM_001384296:exon5:c.G556A:p.E186K,LCA5L:NM_001384285:exon6:c.G946A:p.E316K,LCA5L:NM_001384286:exon6:c.G946A:p.E316K,LCA5L:NM_001384287:exon6:c.G946A:p.E316K,LCA5L:NM_001384289:exon6:c.G946A:p.E316K,LCA5L:NM_001384291:exon6:c.G946A:p.E316K,LCA5L:NM_001384293:exon6:c.G556A:p.E186K,LCA5L:NM_001384303:exon6:c.G556A:p.E186K,LCA5L:NM_001384288:exon7:c.G946A:p.E316K,LCA5L:NM_152505:exon7:c.G946A:p.E316K	.	434	1084	4	0	0	4	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.508	0.0575799952939	.	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0013	0.0002458	38	154602	rs535073284	0.0002	0.0002	0.0001	0.0002	0.0017	0.0002	0.0002	0.0015	0.0014	0	0.0002	0	0	0	0.0017	8.461e-05	0.0003	0.0017	0.0001	0.0001	2.571e-05	0.0002	0.0012	6.515e-05	5.326e-05	0.0005	0.0004	2.414e-05	0	0.0003	0	0	0	0	5.882e-05	0	0.0012	0.0	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.060167	0.999996	0.58761	D	3.185	0.88900	M	-1.4	0.80474	T	-3.54	0.68651	D	0.827	0.82964	0.333	0.88071	D	0.685	0.89128	D	10	0.2940641	0.46980	T	0.05758	0.67017	D	0.508	0.78848	0.234	0.16305	0.850450613299	0.84901	0.25913489865744255	0.25827	0.433100072311	0.43478	0.541312396526	0.44630	T	0.186711	0.54008	T	-0.0201029	0.48840	T	0.162969	0.80988	D	0.277458141969829	0.24064	T	0.848915	0.53103	T	0.87413114	0.89191	0.87427324	0.93162	0.87413114	0.89192	0.87427324	0.93162	-9.057	0.68063	D	.	.	0.267	0.50119	B	.;.;.	.;.;.	5.857444	0.93842	33	0.99934824551316848	0.99579	0.93078	0.57271	D	AEFDBCI	0.770140	0.70518	D	0.77957130562323	0.84812	8.393594	0.756056134041826	0.86608	8.944403	0.999999999999318	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.76	5.76	0.90726	5.304000	0.65535	5.837000	0.50214	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.972	0.97288	947	0.11584	Lebercilin domain;Lebercilin domain;Lebercilin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	463.43	29	chr21	39420735	.	C	T	463.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=235;ExcessHet=0;FS=3.267;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-0.709;SOR=1.371	GT:AD:DP:GQ:PL	0/0:18,0:18:54:0,54,464	9	0	1	0
chr21	39746251	39746251	G	A	exonic	IGSF5	.	stopgain	IGSF5:NM_001080444:exon2:c.G53A:p.W18X	.	1155	365	2	0	0	2	0.00273224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0094	0.00319489	0.0055	0.0015	0.0075	0	0	0.0113	0	0.0025	0.0023027	356	154602	rs117841904	0.0091	0.0080	0.0095	0.0088	0.0120	0.0089	0.0088	0.0117	0.0115	0.0022	0.0060	0.0086	3.115e-05	0.0088	0.0065	0.0120	0.0105	0.0026	0.0077	0.0077	0.0081	0.0072	0.0121	0.0073	0.0072	0.0114	0.0112	0.0023	0.0033	0.0065	0.0075	0	0.0086	0	0.0121	0.0076	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	0.280420	0.14956	U	0.439447	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.17327	0.24741	T	-0.00934242	0.69728	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.777094	0.95720	35	0.98464366047307683	0.41780	0.00366	0.01868	N	AEFBI	0.043234	0.06810	N	-0.196852235120097	0.33265	1.885279	-0.612314695892592	0.19177	1.027725	1.15623113809028E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	.	.	.	0.146000	0.16000	0.187000	0.15699	0.148000	0.17689	0.090000	0.22578	0.062000	0.22056	0.106000	0.18562	.	.	.	889	0.27310	.	B3GALT5-AS1|PCP4	Esophagus_Muscularis|Pituitary	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	169.67	2	chr21	39746251	.	G	A	169.67	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.66;DP=83;ExcessHet=0;FS=6.264;InbreedingCoeff=-0.0711;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.29;SOR=0.061	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,115	9	0	1	0
chr21	41275420	41275420	G	A	exonic	BACE2	.	nonsynonymous SNV	BACE2:NM_138992:exon8:c.G1184A:p.R395K	.	432	1088	1	1	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00633993262405	.	0.000998403	0.0004	0	0.0003	0	0	2.997e-05	0.0011	0.0023	0.0003234	50	154602	rs563744304	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0001	0.0020	0.0019	2.987e-05	2.236e-05	0	0	1.872e-05	0.0012	2.788e-05	0.0002	0.0022	0.0001	0.0001	0.0001	0.0001	0.0029	6.506e-05	5.319e-05	0.0018	0.0014	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0029	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	0.19	0.60236	T	0.42	0.03352	N	0.052	0.02366	-0.9762	0.35860	T	0.091	0.34847	T	8	0.0034328103	0.00060	T	0.00634	0.16668	T	0.069	0.20116	0.215	0.13498	0.49340316462	0.48974	.	.	.	.	.	.	.	.	.	.	-0.35979	0.04142	T	-0.294828	0.45268	T	0.0111159283918314	0.00162	T	0.185281	0.01921	T	.	.	.	.	.	.	.	.	-3.486	0.16237	T	.	.	0.112	0.22024	B	.	.	-0.545021	0.01728	0.128	0.76800135869429942	0.11614	0.01798	0.05614	N	AEFBI	0.035188	0.04487	N	-1.65730765524707	0.01004	0.04355126	-1.8187028748861	0.00701	0.03122278	0.999999306321928	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	-11.0	0.00133	-1.429000	0.02543	-4.803000	0.01979	-0.936000	0.02120	0.001000	0.13787	0.000000	0.08366	0.263000	0.23594	0.1316:0.1673:0.3592:0.3419	3.221	0.06319	975	0.05339	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1513.43	33	chr21	41275420	.	G	A	1513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.573;DP=450;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.573;SOR=0.603	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1191	9	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	749.38	81	chr21	41918930	.	C	G	749.38	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.894;DP=915;ExcessHet=4.5998;FS=112.686;InbreedingCoeff=-0.5212;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.12;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:84,0:84:0:.:.:0,0,1851:.	2	0	6	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	740.79	81	chr21	41918931	.	C	G	740.79	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.421;DP=897;ExcessHet=2.8389;FS=112.686;InbreedingCoeff=-0.4718;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.926;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:76,0:76:2:.:.:0,2,1659:.	4	0	5	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	759.41	80	chr21	41918933	.	C	G	759.41	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.116;DP=836;ExcessHet=2.8389;FS=113.692;InbreedingCoeff=-0.4246;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.05;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1236:.	5	0	5	0
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K,C2CD2:NM_015500:exon4:c.G518A:p.R173K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	367.16	39	chr21	41918935	.	C	T	367.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.384;DP=632;ExcessHet=0.2348;FS=138.574;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.04;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1236:.	9	0	1	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	367.16	39	chr21	41918935	.	C	G	367.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.384;DP=632;ExcessHet=0.2348;FS=138.574;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.04;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:46,0:46:99:.:.:0,102,1236:.	9	0	1	0
chr21	41991659	41991659	C	T	exonic	ZBTB21	.	nonsynonymous SNV	ZBTB21:NM_020727:exon2:c.G2437A:p.V813I,ZBTB21:NM_001098402:exon3:c.G2437A:p.V813I,ZBTB21:NM_001320729:exon3:c.G1834A:p.V612I,ZBTB21:NM_001098403:exon4:c.G1834A:p.V612I,ZBTB21:NM_001320731:exon4:c.G2437A:p.V813I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00268225794095	.	.	.	.	.	.	.	.	.	.	.	.	.	rs924745278	6.704e-05	6.704e-05	6.534e-05	6.875e-05	8.183e-05	5.628e-05	5.171e-05	6.784e-05	6.283e-05	5.974e-05	2.236e-05	0	0	0	0	8.183e-05	4.967e-05	1.159e-05	5.259e-05	5.254e-05	3.855e-05	6.729e-05	0.0001	2.558e-05	1.831e-05	6.287e-05	4.303e-05	0.0001	0	0	0	0	0	0	2.94e-05	0	0	0.413	0.10052	T	0.592	0.08161	T	0.004	0.12183	B	0.001	0.04355	B	0.190116	0.03244	N	1.771920	1	0.08975	N	-0.69	0.01958	N	3.58	0.06214	T	-0.09	0.09460	N	0.049	0.02088	-0.9604	0.39106	T	0.007	0.02478	T	10	0.033360332	0.01510	T	0.002682	0.05492	T	0.015	0.02232	0.349	0.34598	0.15499578495	0.15088	0.09958095292969532	0.09889	0.142958822962	0.16129	0.227120473981	0.01762	T	0.012294	0.10832	T	-0.45541	0.01049	T	-0.828296	0.01293	T	0.0190952640272793	0.00617	T	0.609739	0.23084	T	0.016244464	0.00185	0.020686861	0.00149	0.016244464	0.00185	0.020686861	0.00149	-4.363	0.29051	T	.	.	0.068	0.02639	B	.;.;.;.	.;.;.;.	0.035064	0.04530	1.225	0.30256096209020628	0.01645	0.13745	0.18028	N	AEFGBCI	0.057991	0.10845	N	-1.2492662861105	0.04310	0.1942428	-1.22555734126506	0.05502	0.2623304	0.915432125482879	0.26483	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.01	-1.03	0.09586	-0.135000	0.10399	-5.552000	0.01678	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.121000	0.19209	0.1053:0.2403:0.2241:0.4303	2.2	0.03682	986	0.02773	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1790.43	33	chr21	41991659	.	C	T	1790.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.31;DP=477;ExcessHet=0;FS=2.061;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=-0.987;SOR=0.535	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,102,1530	9	0	1	0
chr21	42111162	42111162	-	CCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA	exonic	UMODL1	.	nonframeshift insertion	UMODL1:NM_001199527:exon11:c.1724_1725insCCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA:p.Q618_R619insVNPSQGSPSQGSLRQESTSQASPSQRSTSQGSPSQVNPSQ,UMODL1:NM_173568:exon11:c.1940_1941insCCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA:p.Q690_R691insVNPSQGSPSQGSLRQESTSQASPSQRSTSQGSPSQVNPSQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.886e-06	4.105e-05	5.536e-06	4.225e-06	3.029e-05	2.03e-06	1.31e-06	8.5e-07	5.8e-07	3.029e-05	0	3.918e-05	0	0	0	3.642e-06	1.684e-05	0	5.258e-05	9.848e-05	6.431e-05	4.033e-05	0.0001	2.558e-05	1.831e-05	4.736e-05	3.052e-05	0.0001	0	6.544e-05	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	441.39	55	chr21	42111162	.	G	GCCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA	441.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=473;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=-0.566;QD=23.23;ReadPosRankSum=-1.738;SOR=0.593	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	4153.92	51	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	*	4153.92	.	AC=5;AF=0.278;AN=18;BaseQRankSum=0.58;DP=769;ExcessHet=3.7549;FS=6.965;InbreedingCoeff=-0.3033;MLEAC=5;MLEAF=0.278;MQ=59.9;MQRankSum=0;QD=9.62;ReadPosRankSum=-0.479;SOR=0.351	GT:AD:DP:GQ:PL	0/0:33,0:56:99:710,809,1937	5	1	3	1
chr21	42477368	42477368	A	C	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon6:c.T536G:p.L179W,RSPH1:NM_080860:exon7:c.T650G:p.L217W	Ciliary dyskinesia, primary, 24, Autosomal recessive	419	1072	30	1	0	32	0.0147059	.	.	.	243626	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_24	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0014202,MedGen:C3809634,OMIM:615481,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.337	.	0.0075	0.00259585	0.0073	0.0017	0.0037	0.0001	0.0020	0.0107	0.0044	0.0054	0.0071603	1107	154602	rs138007679	0.0087	0.0087	0.0087	0.0088	0.0199	0.0086	0.0086	0.0170	0.0159	0.0011	0.0044	0.0179	2.519e-05	0.0018	0.0199	0.0097	0.0100	0.0053	0.0070	0.0070	0.0074	0.0066	0.0108	0.0067	0.0065	0.0101	0.0098	0.0017	0.0100	0.0092	0.0201	0	0.0007	0.0310	0.0108	0.0083	0.0030	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.069443	0.21604	N	0.437144	0.995387	0.23650	N	2.22	0.62911	M	-0.43	0.71662	T	-4.18	0.76094	D	0.69	0.69562	-0.5802	0.65609	T	0.360	0.72201	T	10	0.009697765	0.00218	T	.	.	.	0.337	0.65913	.	.	0.651676189787	0.64878	0.7483150795058281	0.74777	0.640128570775	0.57655	0.587133646011	0.51090	T	0.518742	0.83130	D	-0.320675	0.06842	T	-0.223016	0.52446	T	0.0454924431433719	0.04692	T	0.805019	0.45286	T	0.17939371	0.39008	0.2904774	0.55070	0.19862854	0.41773	0.2573554	0.51450	-7.512	0.57912	D	.	.	0.435	0.64265	A	.;.	.;.	3.936228	0.57567	23.9	0.95818254659302704	0.27904	0.70193	0.34490	D	AEFDGBCI	0.477952	0.52072	N	0.412952004087937	0.62133	4.424404	0.297161445250001	0.55373	3.700439	0.999999681311236	0.74766	0.554377	0.28877	0	0.296712	0.05252	1	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.3	4.3	0.50540	5.217000	0.65084	10.629000	0.83502	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.008000	0.08271	0.9018:0.0:0.0982:0.0	7.699	0.27779	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014617	0.025253	0.016304	0.008824	0.000000	0.017241	0.015244	0.007576	0.05	1474.43	33	chr21	42477368	.	A	C	1474.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.661;DP=435;ExcessHet=0;FS=4.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.494;SOR=0.371	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1060	9	0	1	0
chr21	42565848	42565848	A	T	exonic	SLC37A1	.	nonsynonymous SNV	SLC37A1:NM_001320537:exon15:c.A1243T:p.S415C,SLC37A1:NM_018964:exon16:c.A1243T:p.S415C	.	415	1060	45	2	0	49	0.0225911	.	.	.	728926	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.412	.	0.0051	0.00738818	0.0063	0.0009	0.0054	0	0.0012	0.0074	0.0088	0.0112	0.0062095	960	154602	rs117821416	0.0063	0.0063	0.0062	0.0065	0.0482	0.0062	0.0062	0.0435	0.0417	0.0012	0.0053	0.0073	2.519e-05	0.0008	0.0482	0.0064	0.0079	0.0105	0.0048	0.0048	0.0048	0.0048	0.0097	0.0045	0.0044	0.0075	0.0067	0.0013	0.0439	0.0057	0.0075	0.0004	0.0005	0.0442	0.0064	0.0095	0.0097	0.001	0.78490	D	0.002	0.79402	D	0.991	0.64070	D	0.926	0.66095	D	0.000000	0.84330	D	0.089981	0.999998	0.58761	D	.	.	.	0.23	0.59717	T	-3.44	0.67477	D	0.777	0.77883	-0.4043	0.71892	T	0.264	0.63490	T	10	0.021000087	0.00494	T	.	.	.	0.412	0.72328	.	.	0.596622473119	0.59341	0.7066432131260653	0.70606	1.18097306513	0.80018	0.637778460979	0.58248	T	0.507714	0.82533	D	-0.152753	0.27883	T	0.0171998	0.71450	D	0.0186816729709919	0.00581	T	0.854615	0.54143	D	0.53632385	0.69190	0.38193932	0.63191	0.53632385	0.69191	0.38193932	0.63191	-9.883	0.73208	D	.	.	0.185	0.40065	B	.;.	.;.	4.452089	0.69213	25.3	0.99030630587834523	0.50786	0.97994	0.78718	D	AEFGBI	0.809050	0.73266	D	0.597923731511423	0.73044	5.902358	0.530957509711058	0.70082	5.453411	0.999999846841137	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	4.12	4.12	0.47504	7.375000	0.78897	8.930000	0.78409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	12.426	0.54881	988	0.01987	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033233	0.005051	0.038043	0.052632	0.050000	0.077586	0.030488	0.015152	0.05	2178.43	37	chr21	42565848	.	A	T	2178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.885;DP=537;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=2.12;SOR=0.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:99:.:.:0,105,1575:.	9	0	1	0
chr21	42850149	42850149	T	A	exonic	WDR4	.	nonsynonymous SNV	WDR4:NM_001260474:exon11:c.A1136T:p.Q379L,WDR4:NM_001260475:exon11:c.A701T:p.Q234L,WDR4:NM_001260476:exon11:c.A701T:p.Q234L,WDR4:NM_001260477:exon11:c.A701T:p.Q234L,WDR4:NM_018669:exon11:c.A1139T:p.Q380L,WDR4:NM_033661:exon11:c.A1139T:p.Q380L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0616507693157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.075	0.42794	T	0.002	0.09854	B	0.002	0.06944	B	0.007588	0.31308	N	0.273852	0.878797	0.35708	D	2.075	0.57047	M	0.13	0.60973	T	-3.74	0.71042	D	0.419	0.45898	-0.8889	0.49029	T	0.158	0.49043	T	10	0.16801122	0.31328	T	0.061651	0.68401	D	0.143	0.38195	0.202	0.11659	0.55342899667	0.55001	0.32795068581541864	0.32708	0.022659121963	0.02288	0.363784790039	0.19935	T	0.217063	0.57941	T	-0.0409185	0.45811	T	-0.296553	0.45087	T	0.820024192333221	0.47775	D	0.537046	0.18049	T	0.1408718	0.32484	0.14295752	0.33991	0.1408718	0.32484	0.14295752	0.33990	-7.129	0.54970	T	.	.	0.108	0.20508	B	.;.	.;.	2.019186	0.25662	16.84	0.984204820163609	0.41277	0.89151	0.49445	D	AEFDBCI	0.238015	0.36020	N	-0.316978165714948	0.28502	1.572682	-0.256243640947695	0.29557	1.656874	0.980257894389825	0.30116	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.77	2.35	0.28166	1.899000	0.39450	0.128000	0.15008	0.605000	0.46263	1.000000	0.71638	0.941000	0.28781	0.591000	0.31164	0.1669:0.0922:0.0:0.7409	4.707	0.12235	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1572.43	95	chr21	42850149	.	T	A	1572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.49;DP=727;ExcessHet=0;FS=2.127;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.019;SOR=0.903	GT:AD:DP:GQ:PL	0/0:74,0:74:99:0,120,1800	9	0	1	0
chr21	42859703	42859703	C	T	exonic	WDR4	.	nonsynonymous SNV	WDR4:NM_001260474:exon6:c.G586A:p.V196M,WDR4:NM_001260475:exon6:c.G148A:p.V50M,WDR4:NM_001260476:exon6:c.G148A:p.V50M,WDR4:NM_001260477:exon6:c.G148A:p.V50M,WDR4:NM_018669:exon6:c.G586A:p.V196M,WDR4:NM_033661:exon6:c.G586A:p.V196M	.	.	.	.	.	.	.	.	.	.	.	2108603	not_provided|WDR4-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.041712109932	0.0007	0.000199681	0.0009	0	0.0067	0	0	0.0012	0	0.0006	0.0003687	57	154602	rs141906425	0.0009	0.0009	0.0009	0.0010	0.0011	0.0009	0.0008	0.0010	0.0010	6.255e-05	0.0009	0	2.737e-05	3.998e-05	0	0.0011	0.0008	0.0005	0.0006	0.0006	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0009	0	0	0	0	0.0010	0.0009	0.0002	0.198	0.20532	T	0.249	0.23776	T	0.762	0.43602	P	0.164	0.34953	B	0.001418	0.39109	N	0.165679	0.99777	0.44180	D	1.19	0.30124	L	0.14	0.60854	T	-0.74	0.20791	N	0.423	0.46462	-1.0126	0.26101	T	0.118	0.41495	T	10	0.010695249	0.00237	T	0.041712	0.60078	D	0.139	0.37390	.	.	0.288727942641	0.28479	0.3913877134775434	0.39053	0.054365342963	0.06012	0.753989815712	0.75035	T	0.050875	0.28720	T	-0.370444	0.03571	T	-0.365492	0.37417	T	0.0161224733962806	0.00389	T	0.689231	0.29860	T	0.018684566	0.00391	0.04289067	0.05214	0.021496214	0.00755	0.04085712	0.04512	-7.403	0.56926	T	0.623678614580565	0.69231	0.184	0.40180	B	.;.	.;.	2.085496	0.26530	17.15	0.86386864401040175	0.16501	0.77389	0.38044	D	AEFGBCI	0.136250	0.25684	N	-0.648450693672452	0.17506	0.9013791	-0.654719552084876	0.18097	0.9652906	0.982789366613084	0.30454	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.63	2.82	0.32061	1.383000	0.33992	0.942000	0.22859	-1.005000	0.01788	0.978000	0.35038	0.399000	0.24702	0.001000	0.02609	0.0:0.7469:0.1625:0.0906	7.792	0.28289	964	0.07719	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	455.43	28	chr21	42859703	.	C	T	455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.843;DP=345;ExcessHet=0;FS=2.636;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.108;SOR=0.561	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,946	9	0	1	0
chr21	43797658	43797658	A	G	exonic	RRP1	.	nonsynonymous SNV	RRP1:NM_003683:exon7:c.A580G:p.I194V	.	436	1050	34	2	0	38	0.0177736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0067	0.00439297	0.0076	0.0086	0.0029	0	0.0035	0.0083	0.0089	0.0128	0.0070568	1091	154602	rs34224504	0.0065	0.0066	0.0063	0.0068	0.0144	0.0064	0.0064	0.0119	0.0110	0.0070	0.0039	0.0103	0	0.0037	0.0144	0.0065	0.0074	0.0115	0.0067	0.0068	0.0062	0.0073	0.0120	0.0064	0.0063	0.0095	0.0086	0.0081	0.0011	0.0063	0.0101	0	0.0029	0.0034	0.0066	0.0109	0.0120	.	.	.	0.052	0.47581	T	0.198	0.29589	B	0.068	0.27651	B	0.000014	0.62929	N	0.147144	0.998836	0.45528	D	1.65	0.42232	L	0.93	0.44065	T	-0.7	0.19933	N	0.108	0.09349	-1.0479	0.14988	T	0.082	0.32178	T	10	0.0061847866	0.00139	T	.	.	.	0.124	0.34239	.	.	0.228597637076	0.22478	0.1129430152115122	0.11222	0.396317032902	0.40747	0.324425399303	0.14091	T	0.007208	0.06625	T	-0.620224	0.00110	T	-0.653298	0.08724	T	0.00837291945576133	0.00101	T	0.738226	0.35599	T	0.40382156	0.60996	0.3074112	0.56763	0.40382156	0.60997	0.3074112	0.56762	-8.069	0.61540	D	.	.	0.075	0.05360	B	.	.	0.819982	0.11909	8.475	0.79996522551697846	0.12997	0.81082	0.40563	D	AEFDGBCI	0.103219	0.20685	N	-0.573273131429975	0.19761	1.036678	-0.63292922354271	0.18649	0.9971872	0.999574027058866	0.40495	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	1.02	0.19102	1.350000	0.33615	1.737000	0.28371	-0.065000	0.16512	0.992000	0.37556	0.461000	0.25002	0.088000	0.17685	0.6597:0.0:0.3403:0.0	6.405	0.20863	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014099	0.015152	0.019022	0.005848	0.000000	0.008621	0.018293	0.015152	0.05	750.43	35	chr21	43797658	.	A	G	750.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.042;DP=863;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.91;ReadPosRankSum=-1.46;SOR=0.607	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1078	9	0	1	0
chr21	44291142	44291142	C	G	exonic	AIRE	.	nonsynonymous SNV	AIRE:NM_000383:exon8:c.C927G:p.I309M	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	958977	not_provided|Polyglandular_autoimmune_syndrome,_type_1	MedGen:C3661900|MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.734	0.051600594119	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	9.06e-05	14	154602	rs74162062	0.0001	0.0001	0.0001	0.0001	0.0003	9.349e-05	8.831e-05	0.0002	0.0001	5.975e-05	0	0	0	0	0.0002	0.0001	9.94e-05	0.0003	0.0001	0.0001	0.0001	6.716e-05	0.0002	6.509e-05	5.321e-05	0.0001	7.899e-05	2.407e-05	0	6.534e-05	0	0	0	0	0.0002	0.0005	0.0002	0.003	0.68238	D	0.005	0.72224	D	0.968	0.56581	D	0.726	0.55126	P	0.009445	0.30355	N	0.149595	0.999666	0.48141	D	1.555	0.39373	L	-2.21	0.86963	D	-2.09	0.47683	N	0.653	0.66358	0.472	0.90148	D	0.696	0.89521	D	10	0.6621865	0.70218	D	0.051601	0.64730	D	0.734	0.90721	.	.	0.935899856031	0.93523	0.6584371286038074	0.65780	0.527928288861	0.50385	0.696090936661	0.66580	T	0.49769	0.81945	T	-0.0635664	0.42348	T	-0.0245376	0.68730	D	0.378336071968079	0.28119	T	0.939106	0.77081	D	0.82902205	0.85834	0.672839	0.80798	0.82902205	0.85836	0.672839	0.80799	-10.954	0.79405	D	0.6659994009639238	0.74024	0.596	0.68731	P	.	.	3.948354	0.57820	23.9	0.99488915186248639	0.67347	0.83499	0.42612	D	AEFDBI	0.358850	0.44938	N	0.378446090113252	0.60256	4.212547	0.3332935450562	0.57506	3.916637	0.999994053241565	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.86	3.86	0.43689	0.478000	0.21922	1.637000	0.27771	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	11.703	0.50845	929	0.16858	Zinc finger, PHD-finger|Zinc finger, PHD-type, conserved site|Zinc finger, PHD-finger|Zinc finger, PHD-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1747.43	42	chr21	44291142	.	C	G	1747.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.132;DP=470;ExcessHet=0;FS=3.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.807;SOR=0.455	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr21	44330725	44330725	A	C	exonic	CFAP410	.	nonsynonymous SNV	CFAP410:NM_001271441:exon6:c.T737G:p.V246G	.	423	1095	2	0	2	4	0.000912409	.	.	.	1300581	not_provided|CFAP410-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.002457505785	.	.	0.0003	0	0	0	0	0.0002	0	0.0004	3.84e-05	1	26028	rs750020087	0.0005	0.0005	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	9.511e-05	0	0	2.799e-05	2.08e-05	0.0002	0.0005	0.0006	0.0005	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	0	0	0	0	0	0	0	0.0004	0.0010	0.0002	0.141	0.25560	T	0.086	0.40909	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.32	0.35219	T	0.41	0.03407	N	0.165	0.17416	-1.0169	0.24722	T	0.047	0.20275	T	6	0.041692138	0.02849	T	0.002458	0.04868	T	0.035	0.08770	.	.	0.0762999501168	0.06990	0.22794923434838618	0.22709	0.0853582528376	0.09647	.	.	.	.	.	.	-0.578476	0.00197	T	-0.734567	0.04123	T	0.00746472569067086	0.00086	T	0.0982902	0.00729	T	.	.	.	.	.	.	.	.	-6.145	0.47477	T	.	.	0.058	0.00681	B	.	.	0.246472	0.06261	2.716	0.82854710379441743	0.14410	0.01425	0.04802	N	AEFDBCI	0.022418	0.01119	N	-1.17894961244584	0.05319	0.2421863	-1.33059016686595	0.04040	0.1897337	0.999827307661184	0.43622	0.634777	0.41761	0	0.643519	0.57511	0	0.564498	0.18976	0	0.664235	0.64389	0	.	.	.	.	.	-1.177000	0.03206	0.068000	0.14222	-0.618000	0.04565	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	.	.	.	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1941.43	35	chr21	44330725	.	A	C	1941.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.456;DP=527;ExcessHet=0;FS=1.19;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=0.419;SOR=0.588	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,957	9	0	1	0
chr21	44401722	44401722	C	A	exonic	TRPM2	.	nonsynonymous SNV	TRPM2:NM_001320350:exon16:c.C2363A:p.A788D,TRPM2:NM_001320351:exon16:c.C2363A:p.A788D,TRPM2:NM_003307:exon16:c.C2363A:p.A788D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0645149782045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.24468	T	0.195	0.28032	T	0.411	0.38213	B	0.11	0.31460	B	0.310651	0.14439	N	0.633895	0.999923	0.19989	N	1.1	0.28011	L	-0.03	0.63077	T	-1.76	0.42763	N	0.416	0.45709	-1.0559	0.12803	T	0.097	0.36393	T	10	0.17169914	0.31902	T	0.064515	0.69300	D	0.157	0.40909	0.538	0.64874	0.444907495582	0.44111	0.6686002484349701	0.66798	0.2339395931	0.25932	0.391722887754	0.23912	T	0.338729	0.70796	T	-0.0801978	0.39684	T	-0.352975	0.38864	T	0.15763664740112	0.17694	T	0.705929	0.31637	T	0.18443026	0.39758	0.16879925	0.38866	0.18443026	0.39757	0.16879925	0.38866	-14.777	0.95313	D	.	.	0.575	0.67823	P	.;.;.;.	.;.;.;.	1.403695	0.18178	13.59	0.97995727704635083	0.37438	0.52597	0.29170	D	AEFDBI	0.323728	0.42583	N	-0.687819351312407	0.16367	0.8332879	-0.683209889150857	0.17381	0.9239104	0.229289736254335	0.18446	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.32	3.07	0.34476	1.214000	0.32023	0.428000	0.18294	0.526000	0.24426	0.834000	0.30193	0.001000	0.17328	0.032000	0.13371	0.0:0.1116:0.0:0.8884	8.576	0.32761	846	0.36215	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1391.43	33	chr21	44401722	.	C	A	1391.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.933;DP=435;ExcessHet=0;FS=1.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-3.231;SOR=0.906	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,120,1800	9	0	1	0
chr21	44539627	44539627	G	T	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.C524A:p.T175N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00180915321356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.25979	T	0.41	0.14544	T	0.192	0.29441	B	0.305	0.41207	B	.	.	.	.	1	0.08975	N	3.65	0.94181	H	4.92	0.01404	T	-2.84	0.59873	D	0.31	0.34981	-1.0162	0.24948	T	0.013	0.05129	T	9	0.11628595	0.21931	T	0.001809	0.03115	T	0.061	0.17616	0.196	0.10839	0.27855597813	0.27464	0.021307577349215227	0.02083	0.172056808974	0.19376	0.244697540998	0.03230	T	0.05086	0.28714	T	-0.420857	0.01689	T	-0.67318	0.07406	T	0.304029577742172	0.25170	T	0.266073	0.04370	T	0.0952949	0.22423	0.1002251	0.23956	0.0952949	0.22423	0.1002251	0.23956	-9.502	0.70871	D	.	.	0.106	0.19518	B	.	.	1.166377	0.15557	11.94	0.56949404004896509	0.05662	0.01614	0.05222	N	AEFDGBI	0.029866	0.02897	N	-0.725650685475461	0.15302	0.7700295	-0.973899166601421	0.10373	0.5220618	0.0200161622659042	0.13218	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.09	-1.28	0.08834	0.295000	0.18821	-0.232000	0.10668	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1356:0.3922:0.4722:0.0	5.378	0.15475	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3890.43	227	chr21	44539627	.	G	T	3890.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.717;DP=2525;ExcessHet=0;FS=0.386;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.93;MQRankSum=-0.093;QD=11.08;ReadPosRankSum=-0.517;SOR=0.664	GT:AD:DP:GQ:PL	0/0:321,0:321:99:0,120,1800	9	0	1	0
chr21	44580476	44580476	G	A	exonic	KRTAP10-5	.	nonsynonymous SNV	KRTAP10-5:NM_198694:exon1:c.C103T:p.P35S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00093613202892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.738e-06	3.42e-06	5.449e-06	0	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	0.12754	T	0.877	0.03250	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.08	0.08460	T	-2.15	0.48687	N	0.051	0.02272	-0.9085	0.47037	T	0.014	0.05657	T	9	0.04518804	0.03561	T	9.36E-4	0.00911	T	0.043	0.11576	0.209	0.12639	0.0401082797425	0.02173	0.07066509937605371	0.07003	0.0307842991573	0.03180	0.196288019419	0.00357	T	.	.	.	-0.382541	0.03002	T	-0.78727	0.02241	T	0.15617524087429	0.17584	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02145	B	.	.	1.321438	0.17257	13.05	0.69578118733403005	0.09017	0.07108	0.13134	N	AEFDBCI	0.030063	0.02955	N	-1.52601500577414	0.01680	0.07351673	-1.58541100874676	0.01744	0.0793321	0.991376545030672	0.32467	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	1.96	-0.805	0.10330	-0.384000	0.07447	-5.602000	0.01660	-1.155000	0.01420	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4315:0.0:0.5685:0.0	5.034	0.13763	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1754.43	43	chr21	44580476	.	G	A	1754.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=804;ExcessHet=0;FS=1.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.89;MQRankSum=-1.096;QD=12.1;ReadPosRankSum=-1.29;SOR=0.55	GT:AD:DP:GQ:PL	0/0:125,0:125:99:0,120,1800	9	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	0/1:229,187:416:99:7034,0,8927	2	1	6	1
chr21	44940125	44940125	C	T	exonic	FAM207A	.	nonsynonymous SNV	FAM207A:NM_001316983:exon1:c.C68T:p.A23V,FAM207A:NM_001316984:exon1:c.C68T:p.A23V,FAM207A:NM_001316985:exon1:c.C68T:p.A23V,FAM207A:NM_001316986:exon1:c.C68T:p.A23V,FAM207A:NM_001316987:exon1:c.C68T:p.A23V,FAM207A:NM_058190:exon1:c.C68T:p.A23V	.	376	1140	5	1	0	7	0.00306078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.000399361	0.0068	0	0	0	0	0	0	0.0109	0.0004398	68	154602	rs569129876	0.0003	0.0004	0.0002	0.0004	0.0061	0.0003	0.0003	0.0056	0.0053	0	0	0	3.7e-05	0	0.0015	6.819e-05	0.0004	0.0061	0.0002	0.0002	6.432e-05	0.0003	0.0031	0.0001	9.706e-05	0.0019	0.0015	0	0	0	0	0	0	0.0034	0.0001	0	0.0031	0.013	0.58626	D	0.059	0.56640	T	0.288	0.32258	B	0.147	0.34014	B	0.946071	0.07625	N	1.030690	1	0.08975	N	2.3	0.65703	M	0.82	0.48142	T	-1.44	0.35399	N	0.165	0.20129	-0.9408	0.42489	T	0.131	0.44129	T	10	0.004724562	0.00099	T	.	.	.	0.048	0.13305	0.132	0.03662	0.35139820857	0.34749	0.19249139578881216	0.19167	0.183290922129	0.20616	0.808655440807	0.83286	D	0.005405	0.12627	T	-0.514756	0.00472	T	-0.509437	0.21372	T	0.0745208612003854	0.09271	T	0.547445	0.18775	T	0.05247603	0.09791	0.09237737	0.21768	0.05247603	0.09790	0.09237737	0.21768	-5.139	0.38512	T	.	.	0.115	0.23325	B	.;.;.	.;.;.	1.090377	0.14740	11.29	0.99500197149085245	0.67973	0.00492	0.02329	N	AEFDGBHCI	0.036867	0.04979	N	-0.85774548657028	0.11859	0.5747221	-0.951907042851068	0.10879	0.5507833	0.999999999998941	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.48	1.52	0.22158	0.308000	0.19071	0.085000	0.14440	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.0:0.5951:0.4049:0.0	9.886	0.40431	867	0.32089	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001172	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004167	0.05	394.43	31	chr21	44940125	.	C	T	394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=267;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.372;SOR=0.871	GT:AD:DP:GQ:PL	0/0:29,0:29:60:0,60,900	9	0	1	0
chr21	45184566	45184566	T	A	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001346687:exon7:c.T1636A:p.S546T,ADARB1:NM_015833:exon8:c.T1489A:p.S497T,ADARB1:NM_015834:exon8:c.T1489A:p.S497T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00671238867537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.79e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.29158	T	0.383	0.27679	T	0.033	0.20350	B	0.018	0.18489	B	0.464824	0.12348	N	0.743369	1	0.08975	N	1.015	0.25427	L	1.53	0.30401	T	-0.41	0.14000	N	0.07	0.05162	-1.0064	0.28034	T	0.040	0.17106	T	9	0.08757588	0.14997	T	0.006712	0.17727	T	0.008	0.00669	0.337	0.32654	0.363734036182	0.35979	0.19526595627041057	0.19443	.	.	0.596244215965	0.52374	T	0.302824	0.67520	T	-0.291261	0.09510	T	-0.656152	0.08528	T	0.0363761889056156	0.03046	T	0.435556	0.11926	T	0.110695936	0.26163	0.08189169	0.18646	0.110695936	0.26162	0.08189169	0.18646	-3.91	0.22798	T	.	.	0.065	0.03443	B	.;.;.	.;.;.	0.778336	0.11484	8.086	0.76613829322332938	0.11539	0.01533	0.05044	N	AEFBI	0.026209	0.01928	N	-1.15865057344505	0.05639	0.2575919	-1.24877097255003	0.05149	0.2446654	0.120075729170071	0.16859	0.732398	0.92422	0	0.601575	0.49859	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	0.698	0.698	0.17247	0.215000	0.17352	0.174000	0.15553	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	934	0.15400	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase;.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.38	2	chr21	45184566	.	T	A	34.38	.	AC=2;AF=0.111;AN=18;DP=23;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.19;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	8	1	0	1
chr21	45267554	45267554	G	A	exonic	POFUT2	.	nonsynonymous SNV	POFUT2:NM_015227:exon8:c.C1172T:p.S391L	.	429	1062	31	0	0	31	0.0143852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0099	0.0105831	0.0095	0.0115	0.0063	0.0006	0.0015	0.0095	0.0111	0.0185	0.0092237	1426	154602	rs115237543	0.0088	0.0088	0.0084	0.0092	0.0182	0.0087	0.0086	0.0174	0.0171	0.0104	0.0067	0.0080	0.0008	0.0022	0.0114	0.0087	0.0103	0.0182	0.0088	0.0088	0.0092	0.0084	0.0199	0.0084	0.0082	0.0167	0.0155	0.0105	0.0011	0.0062	0.0066	0.0019	0.0026	0.0272	0.0090	0.0123	0.0199	0.494	0.07895	T	0.031	0.53788	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	2.04	0.00388	N	0.173	0.18512	-1.0652	0.10502	T	0.050	0.21456	T	7	0.0031752586	0.00053	T	.	.	.	0.020	0.03691	.	.	0.0920862733494	0.08535	.	.	.	.	.	.	.	.	.	.	-0.72212	0.00027	T	-0.795116	0.02027	T	2.68504318228224e-05	0.00000	T	0.374863	0.08927	T	.	.	.	.	.	.	.	.	-3.148	0.11855	T	.	.	0.099	0.16756	B	.	.	-0.274959	0.02728	0.361	0.78622477381966449	0.12381	0.01346	0.04623	N	AEFDGBI	0.037692	0.05221	N	-1.54895673051367	0.01541	0.06730489	-1.70822552240981	0.01102	0.04948687	0.999979400801405	0.50053	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	1.42	-2.83	0.05425	-0.477000	0.06663	-0.957000	0.06793	-2.791000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1714:0.5814:0.2472:0.0	5.588	0.16567	929	0.16858	.	.	.	.	.	rs115237543	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.024169	0.015152	0.020380	0.020468	0.000000	0.043103	0.036585	0.018939	0.05	4003.43	36	chr21	45267554	.	G	A	4003.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=603;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=-1.155;SOR=0.627	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1313	9	0	1	0
chr21	45456047	45456047	G	A	exonic	COL18A1	.	nonsynonymous SNV	COL18A1:NM_030582:exon1:c.G517A:p.G173S,COL18A1:NM_130444:exon1:c.G517A:p.G173S	Knobloch syndrome, type 1, Autosomal recessive	1	1504	16	0	1	17	0.00529101	.	.	.	215594	not_specified|Inborn_genetic_diseases|COL18A1-related_disorder|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.0281467067284	0.0027	0.00159744	0.0031	0.0006	0.0016	0	0.0055	0.0042	0.0047	0.0018	0.0029172	451	154602	rs62000960	0.0028	0.0028	0.0027	0.0028	0.0096	0.0027	0.0027	0.0075	0.0068	0.0006	0.0020	0.0016	0	0.0052	0.0096	0.0029	0.0031	0.0021	0.0027	0.0027	0.0027	0.0027	0.0045	0.0025	0.0024	0.0037	0.0033	0.0007	0.0252	0.0045	0.0009	0	0.0039	0.0068	0.0033	0.0024	0.0025	0.193	0.23631	T	0.42	0.14116	T	0.058	0.32486	B	0.04	0.30579	B	0.047472	0.01973	N	2.749370	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.3	0.33197	N	0.135	0.13198	-1.0511	0.14092	T	0.061	0.25383	T	10	0.004279703	0.00086	T	0.028147	0.50866	D	0.019	0.03383	.	.	0.218112801441	0.21410	0.13889922558036855	0.13812	0.0671947334163	0.07511	0.274283051491	0.06707	T	0.061278	0.31612	T	-0.628062	0.00098	T	-0.672609	0.07442	T	0.00253587578120646	0.00026	T	0.534647	0.17878	T	0.04192067	0.06264	0.045697678	0.06207	0.032893058	0.03400	0.048987772	0.07392	-3.779	0.23503	T	.	.	0.091	0.13268	B	.;.	.;.	-0.193884	0.03122	0.499	0.41347441968602916	0.02977	0.03009	0.07878	N	AEFBI	0.243423	0.36471	N	-1.16273116292522	0.05573	0.2544294	-1.28119554121472	0.04685	0.221552	0.999810720525362	0.43459	0.562547	0.31514	0	0.573888	0.26702	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.05	-2.65	0.05739	-1.607000	0.02173	-0.523000	0.08678	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4399:0.1388:0.4213:0.0	5.359	0.15379	680	0.59965	.;Domain of unknown function DUF959, collagen XVIII, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.007049	0.005051	0.008152	0.014620	0.000000	0.008621	0.009146	0.007576	0.05	1643.43	110	chr21	45456047	.	G	A	1643.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.542;DP=881;ExcessHet=0;FS=8.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=-1.056;SOR=1.171	GT:AD:DP:GQ:PL	0/0:66,0:66:99:0,120,1800	9	0	1	0
chr21	45504511	45504520	CGGCCCCCCA	0	exonic	COL18A1	.	.	.	Knobloch syndrome, type 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	17425.2	58	chr21	45504511	.	CGGCCCCCCA	*	17425.2	.	AC=1;AF=0.05;AN=20;DP=499;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=1;MLEAF=0.05;MQ=60;QD=34.93;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:30:91:.:.:1340,1340,1340:.	9	0	1	0
chr21	45987511	45987511	G	A	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon7:c.G751A:p.E251K	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	267479	Collagen_6-related_myopathy|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.680	0.408327497389	0.0002	.	0.0002	0	0	0	0	0.0001	0.0011	0.0009	0.0001488	23	154602	rs145849970	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0010	0.0009	2.987e-05	2.236e-05	3.826e-05	2.519e-05	1.913e-05	0	0.0002	0.0004	0.0012	0.0001	0.0001	7.709e-05	0.0001	0.0008	6.507e-05	5.319e-05	0.0003	0.0002	4.812e-05	0	0	0	0	0	0	0.0001	0	0.0008	0.258	0.16683	T	0.365	0.16914	T	0.999	0.77913	D	0.881	0.62579	P	0.000974	0.40836	D	0.205855	0.99999	0.58761	D	1.7	0.43825	L	-3.37	0.94114	D	-1.79	0.42191	N	0.277	0.31365	0.385	0.88875	D	0.764	0.91956	D	10	0.0976879	0.17611	T	0.408327	0.93544	D	0.680	0.88252	.	.	0.832155817886	0.83056	0.838032652940489	0.83763	0.249061306982	0.27473	0.833469033241	0.87094	D	0.285671	0.65846	T	-0.0426737	0.45550	T	0.115485	0.77935	D	0.137223465590137	0.16033	T	0.89841	0.64469	D	0.22036013	0.44589	0.20740528	0.44998	0.22036013	0.44589	0.20740528	0.44997	-11.471	0.82178	D	0.3804871426567475	0.47497	0.718	0.73696	P	.;.	.;.	5.632094	0.92682	32	0.99906842677596708	0.97726	0.95019	0.63143	D	AEFDBI	0.708223	0.66270	D	0.153172536834939	0.48963	3.102089	0.130464701340641	0.46115	2.862826	0.999999999975603	0.74766	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.82	3.82	0.43153	3.425000	0.52535	11.269000	0.91340	0.618000	0.50648	0.995000	0.38783	1.000000	0.68203	0.763000	0.36255	0.0:0.0:1.0:0.0	16.067	0.80699	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	309.43	34	chr21	45987511	.	G	A	309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=379;ExcessHet=0;FS=2.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.58;ReadPosRankSum=0.24;SOR=1.296	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1340	9	0	1	0
chr21	45999190	45999190	A	C	exonic	COL6A1	.	nonsynonymous SNV	COL6A1:NM_001848:exon26:c.A1712C:p.K571T	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	273707	not_specified|Bethlem_myopathy_1A|not_provided	MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.878	0.470239152179	.	.	0.0002	0	0	0	0	0.0004	0	9.97e-05	9.06e-05	14	154602	rs751040647	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.995e-05	4.619e-05	3.861e-05	0	1.921e-05	0	0.0004	0.0002	1.188e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.238e-05	0.0002	0.0002	2.411e-05	0	0	0	0	0	0	0.0003	0	0	0.051	0.39334	T	0.067	0.44302	T	1.0	0.90584	D	0.946	0.68276	D	0.000169	0.48594	D	0.134020	0.999999	0.58761	D	2.91	0.84121	M	-3.39	0.94210	D	-3.75	0.71157	D	0.76	0.86618	0.622	0.92187	D	0.829	0.94252	D	10	0.8363202	0.82788	D	0.470239	0.94667	D	0.878	0.96391	.	.	0.92042458895	0.91962	0.6979567475493687	0.69736	0.90736318531	0.70896	0.81877219677	0.84840	D	0.689071	0.90942	D	0.206829	0.74532	D	0.425762	0.92924	D	0.89400726556778	0.54532	D	0.90181	0.65830	D	0.2429011	0.47223	0.19661216	0.43399	0.22787972	0.45497	0.20426981	0.44541	-6.982	0.53902	T	0.7037737111120517	0.78308	0.839	0.79163	P	.;.	.;.	3.927283	0.57374	23.8	0.99732631479577305	0.82904	0.99164	0.92173	D	AEFDBI	0.911126	0.86997	D	0.45961291348972	0.64750	4.736756	0.424129925302867	0.63073	4.533902	0.999999999997227	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.5	4.5	0.54382	7.486000	0.80232	8.966000	0.78465	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.781000	0.36947	1.0:0.0:0.0:0.0	14.099	0.64569	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	658.43	39	chr21	45999190	.	A	C	658.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.207;DP=413;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=0.461;SOR=0.719	GT:AD:DP:GQ:PL	0/1:36,32:68:99:670,0,822	9	0	1	0
chr21	46162029	46162029	C	A	exonic	SPATC1L	.	nonsynonymous SNV	SPATC1L:NM_032261:exon3:c.G121T:p.V41L,SPATC1L:NM_001142854:exon4:c.G583T:p.V195L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00725579579803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.03811	T	1.0	0.01155	T	0.06	0.23119	B	0.024	0.20255	B	0.056135	0.22585	N	0.357494	1	0.08975	N	0.345	0.11182	N	1.03	0.40469	T	1.13	0.01182	N	0.207	0.27316	-0.9939	0.31591	T	0.038	0.16505	T	10	0.05888027	0.06991	T	0.007256	0.19253	T	0.029	0.06676	0.185	0.09388	0.151104730317	0.14643	0.25406757110597905	0.25320	0.209469143	0.23414	0.458010822535	0.33037	T	0.004172	0.03581	T	-0.200114	0.20788	T	-0.525226	0.19765	T	0.188584372401237	0.19761	T	.	.	.	0.027505355	0.01952	0.03992587	0.04197	0.027505355	0.01952	0.03992587	0.04196	-2.789	0.08082	T	.	.	0.289	0.64104	B	.;.	.;.	1.968252	0.25002	16.60	0.9141523931608313	0.20682	0.17327	0.19789	N	AEFDBCI	0.075624	0.15190	N	-0.999483017804939	0.08614	0.4046071	-0.86169543767509	0.13006	0.6723406	0.99833092572266	0.36777	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.1	0.096	0.13797	-0.029000	0.12278	0.668000	0.20568	-0.323000	0.05837	0.043000	0.21118	1.000000	0.68203	0.929000	0.46594	0.0:0.397:0.0:0.603	6.649	0.22140	982	0.03397	.;Speriolin, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	541.43	36	chr21	46162029	.	C	A	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.351;SOR=0.716	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,102,1142	9	0	1	0
chr21	46215298	46215298	G	A	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001145437:exon8:c.C653T:p.A218V,LSS:NM_001001438:exon9:c.C893T:p.A298V,LSS:NM_001145436:exon9:c.C860T:p.A287V,LSS:NM_002340:exon9:c.C893T:p.A298V	Cataract 44, Autosomal recessive	433	1079	10	0	0	10	0.00461255	0.0006	0.15	.	1533022	LSS-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0004	0.00519169	0.0040	0.0001	0.0008	0.0194	0.0003	0.0006	0.0074	0.0145	0.0028266	437	154602	rs201713860	0.0015	0.0015	0.0011	0.0019	0.0130	0.0014	0.0014	0.0121	0.0117	3.006e-05	0.0002	0.0002	0.0130	0.0002	0.0029	0.0004	0.0010	0.0126	0.0012	0.0012	0.0008	0.0016	0.0135	0.0010	0.0010	0.0110	0.0100	7.222e-05	0	0.0006	0	0.0135	0.0005	0	0.0004	0.0009	0.0124	0.513	0.07425	T	0.614	0.09298	T	0.002	0.09854	B	0.0	0.01387	B	0.586277	0.11094	N	0.837062	0.984187	0.24822	N	1.495	0.37439	L	1.46	0.32238	T	-1.22	0.31576	N	0.237	0.27197	-1.0098	0.26981	T	0.016	0.06711	T	10	0.0070340037	0.00160	T	0.007566	0.20086	T	0.038	0.09825	.	.	0.184867976434	0.18130	0.5960744481953376	0.59537	0.28602195282	0.31010	0.254594683647	0.04267	T	0.056938	0.30426	T	-0.645131	0.00078	T	-0.685183	0.06672	T	0.0118133632872924	0.00183	T	0.729627	0.34527	T	0.08526793	0.19773	0.049082696	0.07425	0.048312847	0.08399	0.037260924	0.03342	-4.742	0.38758	T	.	.	0.084	0.19720	B	.;.;.;.	.;.;.;.	-0.074480	0.03794	0.802	0.68026145806300997	0.08532	0.14540	0.18457	N	AEFBCI	0.071907	0.14332	N	-1.52998585759555	0.01655	0.07240483	-1.620730661718	0.01534	0.06949419	0.999907498865793	0.45458	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	-8.66	0.00751	-0.058000	0.11707	-0.610000	0.08226	-0.128000	0.13240	0.001000	0.13787	0.000000	0.08366	0.030000	0.13115	0.4401:0.205:0.3549:0.0	8.250	0.30872	934	0.15400	Squalene cyclase, N-terminal;Squalene cyclase, N-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002028	0.000000	0.002732	0.000000	0.000000	0.000000	0.003106	0.011364	0.05	286.43	32	chr21	46215298	.	G	A	286.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.518;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.09;ReadPosRankSum=0.314;SOR=0.614	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1013	9	0	1	0
chr21	46283820	46283820	G	A	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon2:c.C1238T:p.P413L	.	425	1086	11	0	0	11	0.00503894	.	.	.	1284795	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.113	.	0.0003	0.0177716	0.0092	0.0012	0.0007	0.0032	0	4.497e-05	0.0077	0.0638	0.0082017	1268	154602	rs17182566	0.0040	0.0040	0.0024	0.0057	0.0606	0.0039	0.0039	0.0593	0.0587	0.0016	0.0005	3.826e-05	0.0022	0	0.0023	8.099e-05	0.0061	0.0606	0.0033	0.0033	0.0020	0.0046	0.0737	0.0030	0.0029	0.0674	0.0649	0.0015	0	0.0017	0	0.0054	0	0	8.821e-05	0.0099	0.0737	0.004	0.65419	D	0.003	0.76473	D	0.795	0.44777	P	0.095	0.30245	B	0.000018	0.62929	D	0.118770	0.999993	0.08975	N	2.585	0.75554	M	3.66	0.04228	T	-2.28	0.50830	N	0.124	0.12627	-0.9063	0.47297	T	0.009	0.03315	T	10	0.002065301	0.00029	T	.	.	.	0.113	0.31778	.	.	0.134007934775	0.12933	0.5351870173958186	0.53443	0.0676595727789	0.07564	0.444203019142	0.31151	T	0.316252	0.68780	T	-0.597999	0.00150	T	-0.585424	0.14066	T	0.0262718095973514	0.01443	T	0.713829	0.32570	T	0.12150753	0.28572	0.12732299	0.30651	0.12690529	0.29711	0.12732299	0.30651	-4.919	0.35948	T	.	.	0.083	0.09191	B	.;.	.;.	3.537381	0.49663	22.8	0.98798211935288616	0.46413	0.45009	0.27444	N	AEFDBC	0.297975	0.40742	N	-0.0709624492963428	0.38669	2.268441	-0.0533052028531491	0.37348	2.18553	0.99999691295613	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.27	3.43	0.38372	4.157000	0.57925	7.103000	0.57542	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	0.559000	0.30388	0.1256:0.0:0.8744:0.0	12.162	0.53412	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.005435	0.005848	0.000000	0.000000	0.003049	0.018939	0.05	1062.43	38	chr21	46283820	.	G	A	1062.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-1.327;SOR=0.656	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1530	9	0	1	0
chr21	46356980	46356980	C	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon13:c.C1589G:p.P530R,PCNT:NM_006031:exon13:c.C1943G:p.P648R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	21	1498	3	0	0	3	0.00100033	.	.	.	208736	not_specified|Inborn_genetic_diseases|not_provided|PCNT-related_disorder	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.028	0.0264367409791	.	.	0.0001	0	0.0003	0	0	0.0001	0	6.057e-05	9.7e-05	15	154602	rs752992538	8.21e-05	8.277e-05	6.263e-05	0.0001	0.0043	7.003e-05	6.553e-05	0.0030	0.0025	8.963e-05	0.0001	0.0004	0	0	0.0043	5.576e-05	0.0001	6.957e-05	5.252e-05	5.249e-05	6.423e-05	4.028e-05	7.35e-05	2.555e-05	1.829e-05	2.846e-05	1.858e-05	2.404e-05	0	6.536e-05	0	0	0	0.0034	7.35e-05	0	0	0.376	0.11334	T	0.092	0.39954	T	0.175	0.28858	B	0.043	0.24256	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	4.93	0.01395	T	-0.02	0.07299	N	0.161	0.16864	-0.8980	0.48195	T	0.004	0.01365	T	9	0.046045095	0.03747	T	0.026437	0.49346	D	0.028	0.06331	0.307	0.27806	0.382761230579	0.37889	0.021293751230614066	0.02082	0.435177631789	0.43630	0.288303017616	0.08676	T	0.042316	0.26143	T	-0.479757	0.00742	T	-0.657615	0.08427	T	0.0291036537466376	0.01853	T	0.390461	0.09684	T	0.036052596	0.04362	0.055938385	0.09903	0.036052596	0.04362	0.055938385	0.09903	-3.739	0.19895	T	.	.	0.114	0.22717	B	.	.	1.118517	0.15040	11.54	0.86202391918116539	0.16380	0.28482	0.23566	N	AEFDGBCI	0.052614	0.09407	N	-0.941832067931214	0.09877	0.4694408	-0.989674133327664	0.10016	0.5018495	0.999646047427301	0.41316	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	0.721	0.17373	0.945000	0.28654	0.068000	0.14222	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2996:0.53:0.0:0.1703	4.575	0.11621	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.000000	0.020468	0.000000	0.000000	0.000000	0.000000	0.05	1204.43	50	chr21	46356980	.	C	G	1204.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.101;DP=486;ExcessHet=0;FS=1.458;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=1.27;SOR=0.619	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	9	0	1	0
chr21	46357070	46357070	A	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon13:c.A1679G:p.K560R,PCNT:NM_006031:exon13:c.A2033G:p.K678R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	265806	not_provided|not_specified|PCNT-related_disorder|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.0118142633152	0.0003	0.00139776	0.0016	0	8.639e-05	0	0.0077	0.0006	0	0.0062	0.0013777	213	154602	rs149623054	0.0008	0.0008	0.0007	0.0009	0.0054	0.0007	0.0007	0.0050	0.0049	0	0.0001	0.0016	0	0.0075	0.0014	0.0001	0.0010	0.0054	0.0010	0.0010	0.0006	0.0014	0.0048	0.0009	0.0008	0.0033	0.0028	4.81e-05	0	0.0003	0.0020	0	0.0084	0.0034	0.0003	0.0005	0.0048	0.467	0.08559	T	0.537	0.09863	T	0.024	0.19075	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	4.84	0.01481	T	-0.64	0.18670	N	0.061	0.03283	-0.9074	0.47168	T	0.005	0.01615	T	9	0.004591584	0.00096	T	0.011814	0.29802	T	0.026	0.05648	.	.	0.368369118721	0.36443	0.020117236672275794	0.01964	0.25641772079	0.28219	0.280552625656	0.07569	T	0.035494	0.23742	T	-0.577116	0.00201	T	-0.599844	0.12825	T	0.0191197395817799	0.00620	T	0.535046	0.17917	T	0.06112981	0.12624	0.037989493	0.03569	0.06112981	0.12624	0.037989493	0.03568	-3.291	0.13621	T	.	.	0.087	0.11027	B	.	.	1.121635	0.15074	11.57	0.91520135386346169	0.20795	0.27661	0.23340	N	AEFDGBCIJ	0.028903	0.02632	N	-0.865373487050342	0.11673	0.5646436	-0.879794456630278	0.12573	0.6475458	0.999686271407791	0.41756	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	-1.26	0.08892	0.312000	0.19147	0.506000	0.19038	0.756000	0.94297	0.949000	0.33028	0.027000	0.21108	0.046000	0.14843	0.5038:0.0:0.34:0.1562	4.130	0.09612	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1354.43	50	chr21	46357070	.	A	G	1354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.575;DP=484;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.172;SOR=0.496	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1235	9	0	1	0
chr21	46366789	46366789	G	C	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon15:c.G2461C:p.G821R,PCNT:NM_006031:exon15:c.G2815C:p.G939R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0251191999895	.	.	8.364e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs770095294	1.369e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.02760	T	0.83	0.03717	T	0.001	0.07471	B	0.001	0.04355	B	0.362059	0.04310	N	1.571810	1	0.08975	N	0.405	0.12330	N	5.04	0.01277	T	2.08	0.00371	N	0.096	0.07673	-0.8885	0.49063	T	0.004	0.01365	T	10	0.022667646	0.00572	T	0.025119	0.48100	D	0.011	0.01250	0.152	0.05544	0.273938319068	0.27005	0.028705404604973332	0.02820	0.483515035776	0.47301	0.249754846096	0.03742	T	0.013941	0.11965	T	-0.470858	0.00839	T	-0.817277	0.01508	T	0.0215200189124206	0.00856	T	0.476552	0.14308	T	0.022712538	0.00953	0.04663433	0.06541	0.022712538	0.00953	0.04663433	0.06541	-5.564	0.42462	T	.	.	0.119	0.24329	B	.	.	-0.645125	0.01454	0.088	0.37216274567033575	0.02439	0.00650	0.02830	N	AEFDBI	0.015771	0.00317	N	-1.34482070030283	0.03179	0.1415732	-1.36749045767019	0.03604	0.1684548	0.946670015615377	0.27717	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.36	-1.69	0.07747	-0.156000	0.10086	-2.092000	0.04225	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6279:0.1177:0.2544	8.110	0.30067	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1512.43	105	chr21	46366789	.	G	C	1512.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.666;DP=992;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.517;SOR=0.7	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1348	9	0	1	0
chr21	46397402	46397402	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon22:c.G4000A:p.G1334R,PCNT:NM_006031:exon22:c.G4354A:p.G1452R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1508	13	1	0	15	0.00494886	.	.	.	169657	Microcephalic_osteodysplastic_primordial_dwarfism_type_II|not_provided|not_specified|Intellectual_disability	MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.227	.	0.0015	0.00359425	0.0032	0.0004	0.0005	0	0	0.0025	0	0.0126	0.0030401	470	154602	rs143796569	0.0033	0.0033	0.0031	0.0036	0.0127	0.0032	0.0032	0.0121	0.0118	0.0006	0.0006	3.826e-05	0	0.0005	0.0017	0.0031	0.0038	0.0127	0.0019	0.0019	0.0017	0.0021	0.0162	0.0017	0.0017	0.0133	0.0122	0.0006	0.0011	0.0007	0.0003	0	0.0002	0	0.0025	0.0019	0.0162	0.108	0.29420	T	0.084	0.41239	T	0.998	0.73220	D	0.807	0.58472	P	0.303674	0.14554	N	0.511594	0.999996	0.08975	N	1.845	0.48678	L	0.33	0.58323	T	-2.26	0.50502	N	0.262	0.29659	-0.7313	0.58898	T	0.275	0.64691	T	10	0.008995593	0.00203	T	.	.	.	0.227	0.52620	0.235	0.16457	0.71884942748	0.71637	0.04303776020404046	0.04248	0.484201137751	0.47341	0.288807570934	0.08749	T	0.045761	0.27221	T	-0.27923	0.10749	T	-0.16284	0.58094	T	0.0360778288447019	0.02995	T	0.767723	0.39623	T	0.091336384	0.21400	0.09635771	0.22893	0.091336384	0.21399	0.09635771	0.22892	-3.128	0.11621	T	.	.	0.200	0.42375	B	.	.	3.667143	0.52131	23.2	0.99645901095198219	0.76943	0.83027	0.42181	D	AEFDBHCIJ	0.350761	0.44410	N	0.268513640601526	0.54561	3.621278	0.185254883641047	0.49038	3.111961	0.999999999999948	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.46	5.46	0.80021	4.162000	0.57962	6.481000	0.55737	-0.154000	0.11915	0.960000	0.33603	0.998000	0.33993	0.004000	0.06068	0.0:0.0:1.0:0.0	16.801	0.85476	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.015152	0.05	2140.43	41	chr21	46397402	.	G	A	2140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=532;ExcessHet=0;FS=1.057;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.96;ReadPosRankSum=-0.029;SOR=0.727	GT:AD:DP:GQ:PL	0/1:120,95:215:99:2152,0,2683	9	0	1	0
chr21	46416316	46416316	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon30:c.C6044T:p.T2015I,PCNT:NM_006031:exon30:c.C6398T:p.T2133I	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00175282429645	.	.	1.648e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs747029002	7.526e-06	7.525e-06	4.084e-06	1.1e-05	0.0003	4.04e-06	2.95e-06	6.092e-05	2.521e-05	2.99e-05	0	0	0	0	0.0003	3.597e-06	0	4.639e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.077	0.42436	T	0.054	0.22658	B	0.015	0.17295	B	0.208980	0.16412	N	0.451006	1	0.08975	N	0.69	0.16971	N	4.83	0.01493	T	-0.3	0.11913	N	0.135	0.13198	-0.9108	0.46756	T	0.004	0.01192	T	10	0.060669154	0.07487	T	0.001753	0.02960	T	0.029	0.06676	0.303	0.27164	0.234412748748	0.23057	0.06646310231716109	0.06584	0.0901202381982	0.10162	0.282076597214	0.07784	T	0.029296	0.21023	T	-0.402176	0.02241	T	-0.751828	0.03415	T	0.0298921390949175	0.01973	T	0.370863	0.08760	T	0.022501264	0.00918	0.023585005	0.00371	0.022501264	0.00917	0.023585005	0.00371	-6.516	0.50410	T	.	.	0.113	0.22464	B	.	.	0.002619	0.04302	1.082	0.9066221714022541	0.19914	0.04530	0.10162	N	AEFDBCI	0.022916	0.01206	N	-1.18378882082529	0.05245	0.2386384	-1.2237560884999	0.05530	0.2637454	0.213893834849491	0.18273	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.34	-0.299	0.12173	-0.072000	0.11446	-0.251000	0.10506	-0.136000	0.12710	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.344:0.2175:0.2493:0.1892	0.306	0.00260	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	4989.43	35	chr21	46416316	.	C	T	4989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.603;DP=1174;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.363;SOR=0.666	GT:AD:DP:GQ:PL	0/0:47,0:47:99:0,102,1629	9	0	1	0
chr21	46443908	46443908	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon45:c.C9208T:p.R3070C,PCNT:NM_006031:exon45:c.C9799T:p.R3267C	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	6	1514	2	0	0	2	0.000660066	.	.	.	1964921	not_provided|PCNT-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00847201958454	.	.	4.224e-05	0	0	0	0	1.544e-05	0	0.0002	3.88e-05	6	154602	rs773911532	1.849e-05	1.847e-05	1.499e-05	2.202e-05	0.0003	1.266e-05	1.085e-05	0.0002	0.0001	2.991e-05	0	0	0	0	0	2.698e-06	1.659e-05	0.0003	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.127	0.27080	T	0.203	0.27325	T	0.561	0.38362	P	0.057	0.26280	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.63	0.01817	T	-0.14	0.09135	N	0.147	0.14905	-0.9303	0.44095	T	0.003	0.00800	T	9	0.054762274	0.05881	T	0.008472	0.22407	T	0.057	0.16321	0.34	0.33141	0.337868961071	0.33390	0.24305179013395167	0.24219	0.111437477428	0.12582	0.374944597483	0.21538	T	0.07657	0.35450	T	-0.515136	0.00469	T	-0.685585	0.06649	T	0.0545116628553073	0.06276	T	0.367963	0.08605	T	0.06861978	0.14964	0.029796133	0.01358	0.06861978	0.14964	0.029796133	0.01357	-5.986	0.46163	T	.	.	0.112	0.22061	B	.	.	0.565849	0.09345	6.125	0.571473947808259	0.05705	0.02987	0.07842	N	AEFDBCI	0.026913	0.02105	N	-1.09506449607721	0.06733	0.3108223	-1.2477238573795	0.05165	0.2454418	0.991304362671191	0.32442	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	2.85	-3.47	0.04452	-1.534000	0.02317	-2.176000	0.04101	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1772:0.2206:0.3505:0.2517	0.851	0.01097	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1400.43	38	chr21	46443908	.	C	T	1400.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.54;DP=432;ExcessHet=0;FS=2.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.035;SOR=0.981	GT:AD:DP:GQ:PL	0/0:42,0:42:99:0,99,1485	9	0	1	0
chr21	46498665	46498665	G	A	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon5:c.G487A:p.V163I,DIP2A:NM_001146116:exon5:c.G487A:p.V163I,DIP2A:NM_001353942:exon5:c.G487A:p.V163I,DIP2A:NM_001353943:exon5:c.G487A:p.V163I,DIP2A:NM_015151:exon5:c.G487A:p.V163I,DIP2A:NM_206889:exon5:c.G487A:p.V163I,DIP2A:NM_206890:exon5:c.G487A:p.V163I,DIP2A:NM_206891:exon5:c.G487A:p.V163I	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	0.0004	0.00239617	0.0023	0.0001	0.0008	0	0.0002	0.0005	0.0056	0.0134	0.0019534	302	154602	rs199555654	0.0012	0.0012	0.0008	0.0016	0.0129	0.0011	0.0011	0.0123	0.0120	2.987e-05	0.0002	0.0001	5.038e-05	0.0003	0.0029	0.0004	0.0008	0.0129	0.0006	0.0006	0.0005	0.0007	0.0098	0.0005	0.0004	0.0076	0.0068	2.408e-05	0	0.0007	0	0.0004	0.0005	0	0.0003	0.0005	0.0098	0.513	0.07846	T	0.685	0.09760	T	0.002	0.12996	B	0.008	0.16012	B	0.154993	0.17844	N	0.553623	0.916083	0.36543	D	1.155	0.29575	L	1.95	0.22678	T	-0.02	0.14978	N	0.101	0.12913	-1.0395	0.17465	T	0.028	0.12190	T	10	0.0039798617	0.00077	T	.	.	.	0.102	0.29158	.	.	0.171220215726	0.16700	0.14141041502785617	0.14064	0.203220193723	0.22737	0.23514983058	0.02371	T	0.016431	0.13584	T	-0.598165	0.00150	T	-0.620322	0.11160	T	0.0129738828206204	0.00225	T	0.69953	0.30934	T	0.016957363	0.00235	0.019281289	0.00083	0.016957363	0.00235	0.019281289	0.00083	-4.619	0.35351	T	.	.	0.079	0.07697	B	.;.;.;.;.	.;.;.;.;.	1.436971	0.18559	13.80	0.98899051363821378	0.48145	0.93939	0.59631	D	AEFDGBI	0.203856	0.33033	N	-0.524796650724327	0.21281	1.128194	-0.410740659589951	0.24682	1.352972	0.999989550224191	0.51787	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.54	-0.171	0.12677	1.725000	0.37696	-1.545000	0.05202	0.676000	0.76740	0.576000	0.27554	0.000000	0.08366	0.998000	0.85391	0.3391:0.1261:0.5348:0.0	5.795	0.17647	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1326.43	33	chr21	46498665	.	G	A	1326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.802;DP=460;ExcessHet=0;FS=2.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.171;SOR=0.96	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,949	9	0	1	0
chr21	46511510	46511510	C	T	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146115:exon7:c.C869T:p.P290L,DIP2A:NM_001353944:exon7:c.C749T:p.P250L,DIP2A:NM_001146116:exon8:c.C986T:p.P329L,DIP2A:NM_001353942:exon8:c.C1001T:p.P334L,DIP2A:NM_001353943:exon8:c.C998T:p.P333L,DIP2A:NM_015151:exon8:c.C998T:p.P333L,DIP2A:NM_206889:exon8:c.C998T:p.P333L,DIP2A:NM_206890:exon8:c.C998T:p.P333L,DIP2A:NM_206891:exon8:c.C998T:p.P333L	.	420	1090	12	0	0	12	0.00547445	.	.	.	3215065	DIP2A-related_disorder|not_specified	.|MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.150	0.0313655495448	0.0008	0.000599042	0.0008	0.0002	0.0011	0	0.0005	0.0009	0.0025	0.0014	0.0006986	108	154602	rs201955611	0.0005	0.0005	0.0005	0.0006	0.0056	0.0005	0.0005	0.0040	0.0035	0.0003	0.0008	0.0018	2.523e-05	0.0007	0.0056	0.0004	0.0007	0.0013	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0005	0.0004	2.405e-05	0	0.0006	0.0029	0	0.0003	0	0.0006	0.0005	0.0010	0.072	0.35537	T	0.047	0.53072	D	0.027	0.21686	B	0.031	0.25278	B	0.000016	0.62929	N	0.069434	0.999997	0.58761	D	2.295	0.65404	M	3.01	0.09075	T	-4.54	0.86073	D	0.414	0.52208	-1.0761	0.08124	T	0.028	0.12014	T	10	0.023014784	0.00590	T	0.031366	0.53467	D	0.150	0.39571	.	.	0.117191471859	0.11215	0.4926527262117567	0.49186	0.910803748371	0.71052	0.458713203669	0.33134	T	0.231246	0.59752	T	-0.490637	0.00644	T	-0.523094	0.19982	T	0.0913932192506496	0.11382	T	0.792821	0.43457	T	0.06356217	0.13397	0.069522865	0.14658	0.06356217	0.13397	0.069522865	0.14657	-9.961	0.74769	D	.	.	0.081	0.10594	B	.;.;.;.;.	.;.;.;.;.	2.125960	0.27065	17.33	0.76005210028885517	0.11296	0.97185	0.73190	D	AEFDBI	0.431272	0.49363	N	-0.615868547784577	0.18467	0.9590107	-0.568762003828735	0.20309	1.093646	0.999997742995741	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	3.61	0.40494	4.997000	0.63662	1.357000	0.25852	-0.800000	0.03169	1.000000	0.71638	0.089000	0.22506	0.005000	0.06747	0.0:0.8525:0.0:0.1475	11.458	0.49439	929	0.16858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.000000	0.017544	0.000000	0.000000	0.006098	0.000000	0.05	1607.43	39	chr21	46511510	.	C	T	1607.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.11;DP=449;ExcessHet=0;FS=0.65;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-1.391;SOR=0.621	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr21	46554290	46554290	C	G	exonic	DIP2A	.	nonsynonymous SNV	DIP2A:NM_001146116:exon26:c.C3140G:p.P1047R,DIP2A:NM_001353942:exon26:c.C3155G:p.P1052R,DIP2A:NM_001353943:exon26:c.C3152G:p.P1051R,DIP2A:NM_015151:exon26:c.C3152G:p.P1051R	.	.	.	.	.	.	.	.	0.9585	0.716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.490	0.0462632352962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.835	0.82492	M	3.0	0.09167	T	-7.89	0.96166	D	0.899	0.89912	-1.0571	0.12491	T	0.104	0.38144	T	10	0.87549686	0.86838	D	0.046263	0.62377	D	0.490	0.77720	.	.	0.388112687808	0.38423	0.7537106396637245	0.75318	1.17263309596	0.79805	0.714290738106	0.69215	T	0.254746	0.62544	T	0.184187	0.72428	D	0.026795	0.72070	D	0.997364103794098	0.91383	D	0.994121	0.98052	D	0.72192657	0.79268	0.6456876	0.79285	0.72192657	0.79270	0.6456876	0.79286	-16.993	0.98905	D	.	.	0.963	0.90645	P	.;.	.;.	5.514882	0.91719	32	0.99852026726937171	0.93102	0.99373	0.95182	D	AEFDBI	0.883191	0.81190	D	0.859282996750251	0.89628	10.05119	0.817512757809453	0.90984	10.66205	0.999999999999979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.813000	0.84661	7.490000	0.59357	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:1.0:0.0:0.0	18.859	0.92234	923	0.18507	.;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	934.43	34	chr21	46554290	.	C	G	934.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.767;DP=419;ExcessHet=0;FS=5.292;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.323;SOR=0.259	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr21	46644435	46644435	G	A	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001242864:exon4:c.G274A:p.D92N,PRMT2:NM_001242865:exon4:c.G274A:p.D92N,PRMT2:NM_001242866:exon4:c.G274A:p.D92N,PRMT2:NM_001286676:exon4:c.G274A:p.D92N,PRMT2:NM_001286677:exon4:c.G274A:p.D92N,PRMT2:NM_001286678:exon4:c.G274A:p.D92N,PRMT2:NM_001535:exon4:c.G274A:p.D92N,PRMT2:NM_206962:exon5:c.G274A:p.D92N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0297116877802	7.7e-05	0.000399361	0.0006	9.61e-05	8.637e-05	0	0	0.0002	0	0.0037	0.0005045	78	154602	rs368371949	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0031	3.039e-05	7.057e-05	0.0016	0	0	0.0009	4.242e-05	0.0004	0.0036	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	4.814e-05	0	0.0003	0.0020	0	0	0.0034	8.822e-05	0.0005	0.0039	0.108	0.32610	T	0.076	0.48594	T	0.765	0.43734	P	0.09	0.29851	B	0.245791	0.15614	N	0.662303	0.96647	0.38532	D	0.31	0.10265	N	1.23	0.64818	T	-1.55	0.37566	N	0.22	0.40565	-0.6489	0.62762	T	0.344	0.70956	T	10	0.010130763	0.00227	T	0.029712	0.52165	D	0.159	0.41286	.	.	0.745666496146	0.74337	0.2334560231516428	0.23260	0.875556418809	0.69553	0.504767417908	0.39493	T	0.292313	0.66504	T	-0.471031	0.00837	T	-0.450218	0.27673	T	0.0413580048778191	0.03938	T	0.909209	0.68535	D	0.09193214	0.21556	0.08043132	0.18192	0.09193214	0.21556	0.08043132	0.18192	-6.397	0.50992	T	.	.	0.116	0.25000	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.901546	0.38459	20.7	0.98603844435972243	0.43546	0.93948	0.59658	D	AEFBI	0.697419	0.65543	D	0.161174955586193	0.49343	3.135714	0.123962002689382	0.45776	2.834937	0.999999999864039	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.835000	0.62471	9.514000	0.80924	0.618000	0.50648	0.826000	0.30074	1.000000	0.68203	0.020000	0.11549	0.0:0.0:1.0:0.0	17.049	0.86386	867	0.32089	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1438.43	33	chr21	46644435	.	G	A	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.179;DP=458;ExcessHet=0;FS=2.993;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.012;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1217	9	0	1	0
chr21	46663509	46663509	T	G	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001286676:exon7:c.T781G:p.S261A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.0183228474484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.797	0.04104	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.58761	D	.	.	.	-0.5	0.70480	T	-0.92	0.24676	N	0.143	0.14338	-1.0687	0.09701	T	0.114	0.40536	T	7	0.07742116	0.12217	T	0.018323	0.40344	T	0.083	0.24192	0.411	0.44723	0.684796550594	0.68210	.	.	.	.	.	.	.	.	.	.	-0.0150794	0.49552	T	-0.259437	0.48880	T	0.0354677671357309	0.02887	T	0.160284	0.01445	T	.	.	.	.	.	.	.	.	-3.472	0.16042	T	.	.	0.064	0.01738	B	.	.	0.484705	0.08540	5.305	0.87047882955521516	0.16952	0.03385	0.08491	N	AEFDGBI	0.028130	0.02420	N	-1.19980419821022	0.05004	0.227118	-1.3211968955631	0.04157	0.1954755	0.999999999999828	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.15	-10.3	0.00281	-1.092000	0.03476	-2.571000	0.03595	0.665000	0.62972	0.002000	0.15269	0.000000	0.08366	0.883000	0.42306	0.179:0.3128:0.2724:0.2357	1.625	0.02558	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1287.43	35	chr21	46663509	.	T	G	1287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.984;DP=433;ExcessHet=0;FS=1.467;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.54;SOR=0.86	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1201	9	0	1	0
chr22	15528187	15528187	G	A	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.G29A:p.G10D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00194894870343	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549380368	4.984e-06	1.712e-05	5.693e-06	4.274e-06	9.222e-05	2.07e-06	1.33e-06	2.443e-05	1.277e-05	9.222e-05	0	0	7.622e-05	0	0	9.421e-07	0	0	5.278e-05	7.22e-05	5.16e-05	5.402e-05	0.0002	2.566e-05	1.837e-05	9.588e-05	6.979e-05	0.0002	0	0	0	0	0	0	0	0	0	0.61	0.05468	T	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.89	0.00001	T	-0.43	0.14390	N	0.096	0.07673	-1.2616	0.00003	T	0.000	0.00039	T	7	0.08759901	0.15003	T	0.107185	0.78314	D	.	.	0.377	0.39156	0.45212351173	0.44835	0.26472902336126547	0.26385	.	.	0.43172198534	0.29444	T	0.001975	0.01384	T	-0.322482	0.06696	T	-0.701	0.05771	T	0.0358192599351296	0.02950	T	0.325267	0.06676	T	.	.	.	.	.	.	.	.	-4.021	0.24117	T	.	.	0.063	0.01470	B	.	.	0.343213	0.07169	3.752	0.57186098607399849	0.05714	0.00035	0.00307	N	AEFI	0.015273	0.00283	N	-1.35635181669614	0.03059	0.1360845	-1.42178285214135	0.03035	0.140812	1.12885909207597E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.362000	0.02701	.	.	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	39.43	79	chr22	15528187	.	G	A	39.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.971;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.23;MQRankSum=0.315;QD=0.33;ReadPosRankSum=-2.658;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:49,0:49:99:.:.:0,105,1800:.	9	0	1	0
chr22	16591592	16591592	C	T	exonic	CCT8L2	.	stopgain	CCT8L2:NM_014406:exon1:c.G959A:p.W320X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0041	0.00319489	0.0011	0.0121	0.0002	0.0001	0	1.498e-05	0	6.056e-05	0.0009702	150	154602	rs144853652	0.0003	0.0003	0.0003	0.0002	0.0107	0.0003	0.0003	0.0098	0.0094	0.0107	0.0005	0	5.038e-05	0	0	3.597e-06	0.0005	3.478e-05	0.0030	0.0030	0.0032	0.0028	0.0106	0.0028	0.0027	0.0098	0.0094	0.0106	0	0.0010	0	0	0	0	2.94e-05	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	0.003320	0.35125	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.028	0.00618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0330601	0.46970	T	0.18913	0.82519	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.826492	0.93721	33	0.96534567284765505	0.30165	0.00533	0.02466	N	AEFBI	0.022442	0.01122	N	0.0960463296848085	0.46279	2.870655	-0.332390554090526	0.27059	1.498879	3.86578303881523E-4	0.06781	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.98	0.923	0.18539	0.110000	0.15273	-2.033000	0.04315	0.396000	0.20521	0.005000	0.17040	0.000000	0.08366	0.003000	0.05239	0.0:0.7691:0.0:0.2309	3.863	0.08511	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2639.43	35	chr22	16591592	.	C	T	2639.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.79;DP=541;ExcessHet=0;FS=6.444;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.7;MQRankSum=-0.583;QD=11.84;ReadPosRankSum=0.727;SOR=1.001	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1170:.	9	0	1	0
chr22	17120943	17120963	CCGCGTCTGCCGCCGCCTCCC	-	exonic	TMEM121B	.	nonframeshift deletion	TMEM121B:NM_031890:exon1:c.165_185del:p.R60_G66del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	30.49	16	chr22	17120942	.	GCCGCGTCTGCCGCCGCCTCCC	G	30.49	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.335;DP=110;ExcessHet=0;FS=0;InbreedingCoeff=-0.0604;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.91;ReadPosRankSum=1.46;SOR=0.307	GT:AD:DP:GQ:PL	0/0:6,0:6:18:0,18,191	9	0	1	0
chr22	17159184	17159184	G	C	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_033070:exon1:c.C68G:p.A23G	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0119	0	.	0	0	0	.	0.5	2.59e-05	4	154602	rs762935429	1.976e-05	1.851e-05	1.785e-05	2.188e-05	0.0005	1.269e-05	1.077e-05	0.0003	0.0002	0	0	0.0004	0	0	0	2.203e-06	9.459e-05	0.0005	3.315e-05	3.286e-05	2.59e-05	4.077e-05	0.0004	1.27e-05	8.04e-06	7.312e-05	3.037e-05	0	0	0	0.0006	0	0	0	1.48e-05	0	0.0004	0.279	0.15561	T	0.545	0.30339	T	0.252	0.37518	B	0.046	0.33554	B	0.092628	0.02469	N	2.156600	1	0.08975	N	.	.	.	1.9	0.25344	T	-0.13	0.31375	N	0.162	0.30574	-1.0637	0.10855	T	0.029	0.12322	T	10	0.0019942522	0.00028	T	.	.	.	0.011	0.01250	0.439	0.49321	0.0297737177859	0.01360	0.2856602383385985	0.28479	0.183019468109	0.20584	0.743837893009	0.73537	T	0.002232	0.01633	T	-0.303529	0.08331	T	-0.673775	0.07368	T	0.375364273786545	0.28004	T	0.329067	0.15423	T	0.040015228	0.05634	0.055125155	0.09611	0.040015228	0.05634	0.055125155	0.09610	-3.592	0.17742	T	.	.	0.064	0.08176	B	.;.	.;.	0.522668	0.08917	5.695	0.89773634207811637	0.19088	0.04800	0.10519	N	ALL	0.042748	0.06672	N	-1.26777256562825	0.04070	0.1830002	-1.36495707322495	0.03632	0.1698515	0.999999999964074	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.15	-1.27	0.08863	-0.473000	0.06694	0.291000	0.16873	-0.969000	0.01949	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5715:0.0:0.4285:0.0	4.993	0.13569	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006345	0.000000	0.011290	0.015464	0.000000	0.000000	0.000000	0.004545	0.05	609.43	35	chr22	17159184	.	G	C	609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.224;DP=324;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.98;SOR=0.438	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,647	9	0	1	0
chr22	17497533	17497533	C	T	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290047:exon3:c.C352T:p.H118Y	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.00838328274117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378250296	4.105e-06	4.104e-06	6.807e-06	1.375e-06	0.0003	1.48e-06	9.7e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.60972	D	0.999	0.77913	D	0.994	0.82059	D	0.002143	0.37138	U	0.000000	0.999998	0.81001	D	2.055	0.56616	M	.	.	.	.	.	.	0.566	0.67908	-0.5481	0.66858	T	0.290	0.66172	T	10	0.4917826	0.61034	T	0.008383	0.22181	T	0.487	0.77528	0.601	0.73226	0.472102515431	0.46837	.	.	.	.	.	.	.	0.46181	0.79843	T	0.383113	0.88908	D	0.312539	0.88769	D	0.734459042549133	0.42443	D	0.950705	0.81134	D	0.11635601	0.27445	0.14481634	0.34367	0.11635601	0.27445	0.14481634	0.34366	-9.95	0.73612	D	.	.	0.915	0.83831	P	.;.	.;.	4.420128	0.68456	25.2	0.99751444724291105	0.84305	0.98429	0.82685	D	AEFDBI	0.846575	0.76345	D	0.676562058660337	0.78096	6.803365	0.622834828915364	0.76601	6.521311	0.999999999999999	0.74766	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.53	5.53	0.82530	7.346000	0.78586	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.243000	0.23080	0.0:1.0:0.0:0.0	19.818	0.96578	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1736.43	33	chr22	17497533	.	C	T	1736.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.172;DP=442;ExcessHet=0;FS=2.256;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=1.79;SOR=0.48	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1120	9	0	1	0
chr22	17548817	17548817	G	A	exonic	CECR2	.	nonsynonymous SNV	CECR2:NM_001290046:exon17:c.G3038A:p.R1013H,CECR2:NM_001290047:exon17:c.G3530A:p.R1177H	.	426	1065	30	1	0	32	0.0148011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	.	0.0007	0.00579073	0.0043	0.0003	0.0006	0.0002	0	0.0009	0.0022	0.0266	0.0036351	562	154602	rs200418423	0.0022	0.0022	0.0014	0.0029	0.0267	0.0021	0.0021	0.0258	0.0255	0.0002	0.0005	0.0047	2.519e-05	0	0.0085	0.0004	0.0029	0.0267	0.0014	0.0014	0.0010	0.0018	0.0256	0.0012	0.0012	0.0219	0.0205	0.0002	0	0.0008	0.0052	0.0002	0	0.0034	0.0007	0.0019	0.0256	0.0	0.91255	D	0.007	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000123	0.49741	D	0.000000	0.802596	0.34531	D	2.485	0.72352	M	1.58	0.29085	T	-1.73	0.41046	N	0.455	0.49237	-0.8044	0.54885	T	0.135	0.45029	T	10	0.0065469146	0.00148	T	.	.	.	0.092	0.26621	.	.	0.522664700966	0.51911	0.3080170032615043	0.30714	.	.	0.470560133457	0.34757	T	0.097323	0.40003	T	-0.400013	0.02315	T	-0.326418	0.41865	T	0.0489526375774208	0.05315	T	0.957304	0.83911	D	0.07036674	0.15493	0.07400179	0.16143	0.07036674	0.15493	0.07400179	0.16143	-2.476	0.05620	T	.	.	0.079	0.10159	B	.;.;.;.	.;.;.;.	3.736716	0.53487	23.4	0.99944137029088442	0.99868	0.89588	0.50148	D	AEFDBI	0.311219	0.41702	N	0.457077275495663	0.64607	4.718927	0.386242642175001	0.60714	4.262352	0.356995313021246	0.19739	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.11	3.07	0.34476	3.345000	0.51899	6.595000	0.56038	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.446000	0.27806	0.0856:0.1618:0.7527:0.0	8.031	0.29624	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012588	0.015152	0.004076	0.005848	0.000000	0.000000	0.021341	0.041667	0.05	3686.43	36	chr22	17548817	.	G	A	3686.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.927;DP=664;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.282;SOR=0.682	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	9	0	1	0
chr22	17818078	17818078	T	C	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.A4583G:p.D1528G	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.10336439934	7.9e-05	0.000199681	0.0004	0	0.0005	0.0004	0.0024	0.0003	0.0012	6.381e-05	0.0002717	42	154602	rs202169174	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0005	0.0005	5.975e-05	0.0003	0	0.0008	0.0011	0.0002	6.386e-05	0.0004	8.12e-05	0.0002	0.0002	0.0001	0.0003	0.0008	0.0001	0.0001	0.0003	0.0002	4.821e-05	0	0.0002	0	0.0008	0.0012	0	0.0001	0.0005	0	0.001	0.78490	D	0.011	0.64786	D	0.991	0.64070	D	0.793	0.57829	P	.	.	.	.	0.96678	0.38552	D	2.135	0.59519	M	-0.47	0.70133	T	-3.0	0.62343	D	0.531	0.55972	-0.5419	0.67092	T	0.308	0.67894	T	9	0.053913713	0.05658	T	0.103364	0.77736	D	0.302	0.62290	.	.	0.27064940482	0.26676	0.3398932298647577	0.33902	0.521112319639	0.49893	0.618978083134	0.55585	T	0.149467	0.48848	T	-0.177586	0.24095	T	-0.136489	0.60421	T	0.139885798096657	0.16265	T	0.960654	0.85269	D	0.23267986	0.46060	0.28038278	0.54013	0.23267986	0.46060	0.28038278	0.54012	-7.068	0.54529	T	.	.	0.655	0.71115	P	.	.	3.627292	0.51366	23.1	0.99820269769798275	0.90326	0.98478	0.83201	D	AEFDBI	0.903922	0.85359	D	0.253848712971567	0.53829	3.550283	0.272721975034911	0.53953	3.561874	0.99999947791861	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	7.573000	0.81745	7.604000	0.61663	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.353000	0.25727	0.0:0.0:0.0:1.0	14.550	0.67651	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2991.43	36	chr22	17818078	.	T	C	2991.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.112;DP=758;ExcessHet=0;FS=4.504;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.555;SOR=0.746	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,963	9	0	1	0
chr22	17818742	17818742	T	C	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.A3919G:p.R1307G	.	421	1079	22	0	0	22	0.0100917	.	.	.	2821910	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.111	.	0.0042	0.00239617	0.0070	0.0008	0.0023	0	0.0060	0.0092	0.0036	0.0096	0.0063259	978	154602	rs148613283	0.0062	0.0061	0.0059	0.0064	0.0140	0.0060	0.0060	0.0115	0.0106	0.0008	0.0037	0.0197	0	0.0055	0.0140	0.0061	0.0072	0.0079	0.0047	0.0047	0.0049	0.0045	0.0068	0.0044	0.0043	0.0059	0.0057	0.0011	0.0164	0.0033	0.0173	0	0.0060	0.0102	0.0064	0.0047	0.0068	0.11	0.29158	T	0.402	0.14912	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.05	0.61923	T	-1.5	0.36586	N	0.053	0.02462	-1.0258	0.21821	T	0.100	0.37265	T	9	0.0034341514	0.00060	T	.	.	.	0.111	0.31313	.	.	0.110392049598	0.10638	0.15928954186605174	0.15849	0.187826864618	0.21109	0.24967700243	0.03734	T	0.009145	0.08348	T	-0.584683	0.00180	T	-0.602245	0.12624	T	0.00563762928683914	0.00061	T	0.611839	0.23263	T	0.15011574	0.34191	0.16634323	0.38433	0.15011574	0.34190	0.16634323	0.38432	-2.769	0.07901	T	.	.	0.072	0.04436	B	.	.	1.689708	0.21528	15.24	0.93228658380557139	0.22909	0.89311	0.49699	D	AEFDBI	0.262554	0.38027	N	-0.661398927744951	0.17130	0.878795	-0.614906612488756	0.19110	1.023887	0.0406099331030281	0.14447	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.683762	0.67416	0	.	.	4.54	2.4	0.28568	1.782000	0.38284	0.571000	0.19607	0.665000	0.62972	0.319000	0.25494	0.373000	0.24578	0.017000	0.10941	0.0:0.1689:0.1611:0.6701	4.744	0.12403	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.025253	0.002717	0.011696	0.000000	0.017241	0.006098	0.007576	0.05	1488.43	35	chr22	17818742	.	T	C	1488.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.049;DP=465;ExcessHet=0;FS=1.405;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=1.85;SOR=0.765	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	9	0	1	0
chr22	17819107	17819107	G	C	exonic	MICAL3	.	nonsynonymous SNV	MICAL3:NM_015241:exon26:c.C3554G:p.P1185R	.	.	.	.	.	.	.	.	.	.	.	2397289	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.063	0.0252900793812	8.3e-05	0.000399361	3.979e-05	0.0005	0	0	0	0	0	0	3.88e-05	6	154602	rs369298683	1.557e-05	1.573e-05	1.161e-05	1.972e-05	0.0007	1.001e-05	8.49e-06	0.0004	0.0004	0.0007	0	0	0	0	0	0	1.807e-05	0	0.0001	0.0001	0.0002	0.0001	0.0005	9.143e-05	7.699e-05	0.0003	0.0002	0.0005	0	0.0001	0	0	0	0	0	0	0	0.064	0.36509	T	0.38	0.15988	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	0.06	0.61798	T	-1.04	0.27259	N	0.167	0.17691	-0.9982	0.30423	T	0.146	0.46967	T	9	0.03174585	0.01313	T	0.02529	0.48264	D	0.090	0.26093	.	.	0.123314135267	0.11883	0.14650178680549264	0.14572	0.153836466492	0.17363	0.257728993893	0.04624	T	0.011096	0.09944	T	-0.329221	0.06171	T	-0.396422	0.33802	T	0.0366320974257186	0.03091	T	0.518348	0.16810	T	0.048973158	0.08623	0.13618414	0.32586	0.048973158	0.08622	0.13618414	0.32585	-5.486	0.41737	T	.	.	0.082	0.08802	B	.	.	2.668008	0.34779	19.72	0.71727807737978411	0.09728	0.37366	0.25745	N	AEFDBI	0.099990	0.20116	N	-0.65785732163797	0.17231	0.8849592	-0.617664758035936	0.19039	1.019783	0.315443224719336	0.19330	0.706548	0.73137	0	0.724815	0.89359	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	4.79	4.79	0.60909	3.275000	0.51342	7.267000	0.57978	0.596000	0.33519	0.117000	0.23121	0.999000	0.35428	0.009000	0.08673	0.1007:0.0:0.8993:0.0	9.120	0.35945	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1262.43	35	chr22	17819107	.	G	C	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=454;ExcessHet=0;FS=3.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.572;SOR=1.11	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1082	9	0	1	0
chr22	18083708	18083708	G	A	exonic	PEX26	.	nonsynonymous SNV	PEX26:NM_001127649:exon3:c.G643A:p.E215K,PEX26:NM_001199319:exon4:c.G643A:p.E215K,PEX26:NM_017929:exon4:c.G643A:p.E215K	Peroxisome biogenesis disorder 7A (Zellweger), Autosomal recessive;Peroxisome biogenesis disorder 7B, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	194477	Peroxisome_biogenesis_disorder_7A_(Zellweger)|Peroxisome_biogenesis_disorder_7B|not_specified|PEX26-related_disorder	MONDO:MONDO:0013938,MedGen:C3888385,OMIM:614872,Orphanet:912|MONDO:MONDO:0013939,MedGen:C3553951,OMIM:614873,Orphanet:44|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.365	0.123340403968	0.0005	.	0.0009	0.0002	0.0003	0	0	0.0015	0.0011	0.0005	0.0008732	135	154602	rs138232280	0.0007	0.0007	0.0006	0.0007	0.0012	0.0006	0.0006	0.0006	0.0004	0.0001	0.0005	0.0238	0	0	0.0012	0.0002	0.0017	0.0005	0.0006	0.0006	0.0006	0.0006	0.0002	0.0005	0.0005	0.0001	8.877e-05	4.81e-05	0	0.0001	0.0205	0	0	0	0.0002	0.0019	0.0002	0.025	0.47320	D	0.065	0.44702	T	0.056	0.22806	B	0.077	0.28532	B	0.501528	0.11943	U	0.728570	0.999937	0.19486	N	2.48	0.72069	M	-3.86	0.95891	D	-1.89	0.44094	N	0.212	0.23632	0.253	0.86794	D	0.796	0.93079	D	10	0.004815489	0.00102	T	0.12334	0.80449	D	0.365	0.68495	.	.	0.903713951654	0.90275	0.2661718834971586	0.26530	0.235404877095	0.26070	0.301500797272	0.10624	T	0.425144	0.77535	T	-0.169927	0.25245	T	-0.125488	0.61349	T	0.0207640288071702	0.00776	T	0.756024	0.37907	T	0.10178639	0.24046	0.10650318	0.25622	0.100597024	0.23754	0.11740387	0.28341	-4.459	0.30348	T	0.32182961278269184	0.41997	0.078	0.08754	B	.;.;.;.	.;.;.;.	2.228751	0.28446	17.80	0.99340286383022636	0.60131	0.87351	0.46864	D	AEFBI	0.164825	0.29126	N	-0.292560633461185	0.29434	1.632258	-0.26013970414808	0.29423	1.648356	0.999905256849197	0.45458	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.76	2.62	0.30337	1.596000	0.36329	4.926000	0.46086	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.457000	0.28051	0.0875:0.1746:0.7379:0.0	8.120	0.30128	835	0.38313	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	2219.43	33	chr22	18083708	.	G	A	2219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.69;DP=533;ExcessHet=0;FS=5.133;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-1.254;SOR=0.586	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,102,1530	9	0	1	0
chr22	18607138	18607138	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G4297A:p.A1433T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00321510054802	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389368890	4.305e-05	5.775e-05	4.472e-05	4.134e-05	0.0003	3.391e-05	3.104e-05	0.0001	9.711e-05	3.336e-05	0.0003	0	2.781e-05	0.0001	0.0002	2.843e-05	5.276e-05	8.956e-05	5.393e-05	6.753e-05	2.975e-05	7.993e-05	7.864e-05	2.438e-05	1.738e-05	1.294e-05	6.59e-06	6.171e-05	0	7.864e-05	0	0	0.0001	0	4.876e-05	0	0	.	.	.	0.203	0.27325	T	.	.	.	.	.	.	0.302050	0.03961	N	1.510760	1	0.08975	N	0.69	0.16971	N	.	.	.	.	.	.	0.022	0.00372	-1.0012	0.29574	T	0.029	0.12234	T	10	0.022256345	0.00551	T	0.003215	0.07057	T	.	.	.	.	0.0297737177859	0.01360	0.19249087248950256	0.19167	.	.	0.343607842922	0.16976	T	0.00235	0.01749	T	-0.59188	0.00163	T	-0.775592	0.02589	T	0.0269799418747425	0.01542	T	0.464953	0.13579	T	0.016749132	0.00219	0.03692622	0.03239	0.016749132	0.00219	0.03692622	0.03238	-3.538	0.16968	T	.	.	0.079	0.07083	B	.	.	0.295992	0.06720	3.229	0.89430226685874015	0.18790	0.00141	0.00861	N	AEFI	0.017714	0.00484	N	-1.1963147721946	0.05056	0.229593	-1.22891391192758	0.05451	0.2597388	1.61461239895288E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.58	1.42	0.21524	-0.485000	0.06601	0.412000	0.18122	-0.718000	0.03832	0.000000	0.06391	0.003000	0.18671	0.022000	0.11911	0.0:0.2807:0.0:0.7193	4.745	0.12409	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	33.43	37	chr22	18607138	.	C	T	33.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.164;DP=361;ExcessHet=0;FS=1.739;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=31.37;MQRankSum=-0.968;QD=0.52;ReadPosRankSum=0.751;SOR=1.322	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr22	18608149	18608149	G	A	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C3286T:p.R1096C	.	.	.	.	.	.	.	.	.	.	.	2350021	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00276962705946	.	0.000199681	0.0006	0.0004	0.0005	0.0006	0	0.0010	0	0	3.84e-05	1	26028	rs556282269	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	2.997e-05	0.0002	0	0.0001	0.0002	0	0.0003	0.0002	5.87e-05	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	6.574e-05	0	0	0	0.0034	0.0004	0	0	.	.	.	0.208	0.26883	T	.	.	.	.	.	.	0.310805	0.14437	N	0.676525	0.869823	0.35541	D	-0.22	0.03977	N	.	.	.	.	.	.	0.182	0.19728	-1.0350	0.18857	T	0.026	0.11309	T	10	0.024347723	0.00667	T	0.00277	0.05752	T	.	.	.	.	0.162503812791	0.15892	0.4640396563928599	0.46322	.	.	0.543227553368	0.44901	T	0.00176	0.01186	T	-0.36059	0.04096	T	-0.433773	0.29507	T	0.0393806223401046	0.03579	T	0.537046	0.18049	T	0.08319255	0.19201	0.04585534	0.06264	0.08319255	0.19201	0.04585534	0.06263	-3.707	0.19422	T	.	.	0.106	0.19639	B	.	.	2.603862	0.33808	19.45	0.9983230336340293	0.91370	0.59323	0.30883	D	AEFDBI	0.331781	0.43139	N	-0.568051534427148	0.19921	1.046359	-0.489555897896383	0.22440	1.218865	0.00467561365466144	0.10667	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.42	2.39	0.28492	3.069000	0.49724	0.805000	0.21696	0.306000	0.19039	0.993000	0.37899	0.001000	0.17328	0.591000	0.31164	0.1254:0.0:0.8746:0.0	8.488	0.32242	866	0.32446	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	5027.43	33	chr22	18608149	.	G	A	5027.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.398;DP=1069;ExcessHet=0;FS=5.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=43.18;MQRankSum=2.5;QD=15.33;ReadPosRankSum=-0.426;SOR=0.454	GT:AD:DP:GQ:PL	0/1:127,201:328:99:5039,0,2720	9	0	1	0
chr22	18608671	18608671	G	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.C2764A:p.Q922K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00365694657123	.	0.000199681	9.308e-06	0	0	0	0	0	0	6.864e-05	3.84e-05	1	26028	rs529630375	6.853e-07	1.368e-06	1.364e-06	0	1.163e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.163e-05	6.562e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.429	0.13752	T	.	.	.	.	.	.	0.080881	0.20898	N	0.468333	1	0.08975	N	2.6	0.76081	M	.	.	.	.	.	.	0.22	0.24634	-1.0316	0.19937	T	0.029	0.12365	T	10	0.08099523	0.13209	T	0.003657	0.08433	T	.	.	.	.	0.0846915920261	0.08053	0.3579798448792119	0.35711	.	.	0.31769490242	0.13071	T	0.024838	0.18689	T	-0.305081	0.08189	T	-0.573061	0.15170	T	0.138753823035031	0.16167	T	0.40256	0.10281	T	0.0810756	0.18609	0.111420766	0.26876	0.0810756	0.18609	0.111420766	0.26875	-4.139	0.25863	T	.	.	0.081	0.08081	B	.	.	1.791327	0.22773	15.75	0.93761993757176787	0.23709	0.01782	0.05581	N	AEFDBI	0.043064	0.06762	N	-0.469575339527884	0.23082	1.237009	-0.549363481283875	0.20823	1.123657	1.81443320349107E-4	0.05844	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.08	4.08	0.46880	1.293000	0.32959	3.905000	0.40374	0.306000	0.19039	0.016000	0.19238	0.995000	0.32472	0.326000	0.25110	0.1143:0.0:0.8857:0.0	8.178	0.30454	866	0.32446	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1200.43	33	chr22	18608671	.	G	T	1200.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.37;DP=741;ExcessHet=0;FS=2.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.8;MQRankSum=-4.965;QD=4.8;ReadPosRankSum=-0.627;SOR=0.897	GT:AD:DP:GQ:PL	0/0:44,0:44:99:0,102,1530	9	0	1	0
chr22	18922842	18922842	G	T	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon6:c.C500A:p.T167N,LOC102724788:NM_001368249:exon6:c.C824A:p.T275N,LOC102724788:NM_001368250:exon6:c.C500A:p.T167N,PRODH:NM_016335:exon6:c.C824A:p.T275N	.	1	1438	83	0	0	83	0.02805	.	.	.	1159078	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0333	0.0720847	0.0579	0.0104	0.1609	0.1818	0.0085	0.0437	0.0444	0.0283	0.0576771	8917	154602	rs5747933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.604	0.07354	T	0.544	0.14961	T	0.372	0.34134	B	0.175	0.35598	B	0.065048	0.21909	N	0.496209	1	0.08975	P	.	.	.	1.43	0.32958	T	-0.27	0.12847	N	0.189	0.22998	-1.0145	0.25497	T	0.000	0.00039	T	9	0.0017009974	0.00021	T	.	.	.	0.021	0.04004	.	.	.	.	0.4946535748930686	0.49386	0.331359197874	0.35213	0.406710684299	0.26002	T	0.011657	0.16015	T	-0.651722	0.00071	T	-0.56511	0.15900	T	0.00372201777991252	0.00039	T	0.756224	0.37950	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.38444	B	.;.;.;.;.	.;.;.;.;.	0.135227	0.05303	1.794	0.91944369770692291	0.21271	0.02689	0.07326	N	AEFBI	0.081638	0.16523	N	-0.749487469426016	0.14647	0.731409	-0.754882130175184	0.15603	0.821413	0.792135918401755	0.24033	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.18	0.756	0.17569	-0.000000	0.12910	-0.138000	0.11547	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.093000	0.17941	0.3838:0.0:0.6162:0.0	6.269	0.20150	929	0.16858	Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;Proline dehydrogenase domain;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0.032226	0.035354	0.036685	0.026316	0.000000	0.025862	0.024390	0.030303	0.05	1336.43	70	chr22	18922842	.	G	T	1336.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.132;DP=571;ExcessHet=0;FS=0.874;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.91;ReadPosRankSum=0.014;SOR=0.589	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	9	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,146:146:99:4207,438,0	3	5	2	0
chr22	19187701	19187701	C	G	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_007098:exon29:c.G4462C:p.D1488H	.	414	1099	5	1	3	10	0.0031746	.	.	.	2355074	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.203	0.00836569693606	.	.	0.0003	0.0001	0	0	0	0.0003	0.0023	0.0008	0.0002264	35	154602	rs55790642	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	2.987e-05	0.0004	0	0	3.756e-05	0.0019	0.0001	0.0005	0.0009	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0002	0.0011	0.0009	2.405e-05	0	0.0016	0	0	0	0.0034	0.0001	0.0005	0.0004	0.005	0.63226	D	0.011	0.64786	D	0.01	0.15535	B	0.123	0.32463	B	0.000081	0.51296	D	0.128172	0.999936	0.81001	D	2.925	0.84406	M	1.96	0.22270	T	-5.15	0.83357	D	0.712	0.75374	-1.0461	0.15505	T	0.071	0.28969	T	10	0.2636627	0.43846	T	0.008366	0.22156	T	0.203	0.48915	0.636	0.77251	0.331876078066	0.32801	0.6385750003449644	0.63791	.	.	0.54824411869	0.45610	T	0.273284	0.64572	T	-0.263308	0.12516	T	-0.255206	0.49300	T	0.266176612776529	0.23583	T	0.973953	0.90669	D	0.3304299	0.55506	0.3358819	0.59396	0.3304299	0.55506	0.3358819	0.59396	-10.839	0.78767	D	0.3875285088100992	0.48114	0.126	0.26700	B	.;.	.;.	2.344107	0.30048	18.31	0.97817227886842006	0.36168	0.89150	0.49444	D	AEFBI	0.400571	0.47540	N	-0.330410291918967	0.27998	1.540702	-0.304700158715722	0.27947	1.554455	0.99997802662466	0.50053	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	3.97	2.95	0.33285	2.877000	0.48205	-0.077000	0.12225	-0.176000	0.10722	1.000000	0.71638	0.001000	0.17328	0.753000	0.35893	0.0:0.8265:0.0:0.1735	10.016	0.41186	756	0.51065	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.005051	0.000000	0.002924	0.000000	0.017241	0.003049	0.007576	0.05	609.43	38	chr22	19187701	.	C	G	609.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=383;ExcessHet=0;FS=5.176;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-1.633;SOR=1.367	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1331	9	0	1	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F,CLTCL1:NM_007098:exon2:c.G130T:p.V44F	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027750	0.005102	0.013587	0.038462	0.000000	0.008621	0.051829	0.049242	0.15	3604.45	38	chr22	19275743	.	C	A	3604.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.275;DP=569;ExcessHet=0.7463;FS=3.685;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.04;SOR=0.675	GT:AD:DP:GQ:PL	0/1:64,52:116:99:1177,0,1476	7	0	3	0
chr22	19851751	19851751	A	G	exonic	RTL10	.	nonsynonymous SNV	RTL10:NM_024627:exon3:c.T511C:p.F171L	.	407	1105	10	0	0	10	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00897574364418	0.0005	0.000998403	0.0008	9.643e-05	0.0017	0	0	0.0011	0.0022	0.0003	0.000815	126	154602	rs146494789	0.0005	0.0005	0.0006	0.0005	0.0038	0.0005	0.0005	0.0026	0.0022	0.0004	0.0017	0.0007	0	0.0006	0.0038	0.0005	0.0011	0.0003	0.0007	0.0007	0.0006	0.0008	0.0026	0.0005	0.0005	0.0020	0.0017	7.217e-05	0	0.0026	0.0017	0	0.0004	0.0034	0.0006	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.356	0.33761	B	0.127	0.32738	B	0.067624	0.21727	N	0.193173	0.994486	0.23508	N	0.695	0.17993	N	1.61	0.28391	T	-4.73	0.80085	D	0.471	0.50688	-1.0364	0.18419	T	0.057	0.23942	T	10	0.012423575	0.00267	T	0.008976	0.23655	T	0.168	0.42943	0.662	0.79996	0.0297737177859	0.01360	0.8014412379080333	0.80098	0.67947272554	0.59938	.	.	.	0.028873	0.20816	T	-0.340529	0.05351	T	-0.280937	0.46709	T	0.115045605656371	0.13938	T	0.423358	0.11306	T	0.5533073	0.70139	0.47706148	0.69702	0.5533073	0.70140	0.47706148	0.69703	-6.086	0.46993	T	.	.	0.946	0.86474	P	.;.;.	.;.;.	2.418089	0.31091	18.64	0.95260150240671637	0.26529	0.19128	0.20539	N	AEFBHCI	0.067359	0.13238	N	-0.727718963089323	0.15246	0.7666364	-0.794973346936875	0.14618	0.7647365	0.999986480081085	0.51787	0.719381	0.83141	0	0.723133	0.82719	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	3.68	2.64	0.30504	1.361000	0.33740	5.127000	0.47629	-0.059000	0.16651	0.005000	0.17040	0.999000	0.35428	0.435000	0.27561	0.8795:0.0:0.1205:0.0	5.792	0.17629	890	0.26919	Domain of unknown function DUF4939;Domain of unknown function DUF4939;Domain of unknown function DUF4939	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2021.43	33	chr22	19851751	.	A	G	2021.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.216;DP=474;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.112;SOR=0.492	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1239	9	0	1	0
chr22	19962734	19962734	G	A	exonic	COMT	.	nonsynonymous SNV	COMT:NM_007310:exon1:c.G58A:p.G20R,COMT:NM_000754:exon3:c.G208A:p.G70R,COMT:NM_001135161:exon3:c.G208A:p.G70R,COMT:NM_001135162:exon3:c.G208A:p.G70R,COMT:NM_001362828:exon3:c.G208A:p.G70R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.342445407757	.	0.000199681	3.329e-05	0.0002	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs149909767	4.79e-06	4.788e-06	2.723e-06	6.877e-06	3.478e-05	1.99e-06	1.28e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	8.993e-07	3.312e-05	3.478e-05	1.969e-05	1.968e-05	0	4.028e-05	7.215e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.215e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.048408	0.999998	0.58761	D	2.985	0.85602	M	-0.48	0.97753	T	-7.86	0.96085	D	0.329	0.40264	0.441	0.89705	D	0.616	0.86431	D	10	0.8913274	0.88475	D	0.342445	0.92051	D	0.505	0.78662	0.453	0.51612	0.983335598377	0.98315	0.8418285972771966	0.84142	0.918071185387	0.71324	0.545649051666	0.45243	T	0.53584	0.84019	D	0.108224	0.65168	D	0.154348	0.80457	D	0.972999691963196	0.69918	D	0.782022	0.41734	T	0.8176523	0.85062	0.7792742	0.86984	0.8176523	0.85063	0.7792742	0.86985	-10.69	0.77930	D	.	.	0.381	0.59268	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.176754	0.62841	24.5	0.99898590409480803	0.97124	0.96526	0.69580	D	AEFDBHCI	0.870450	0.79142	D	0.636201058566478	0.75477	6.313073	0.486661467316937	0.67105	5.039731	0.999999999988779	0.74766	0.645754	0.44609	0	0.643519	0.57511	0	0.52208	0.10781	0	0.723	0.93126	0	.	.	5.5	4.49	0.54177	6.140000	0.71491	3.594000	0.39199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0768:0.0:0.9232:0.0	13.491	0.60848	729	0.54495	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1662.43	41	chr22	19962734	.	G	A	1662.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.748;DP=510;ExcessHet=0;FS=3.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.343;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,108,1620:.	9	0	1	0
chr22	20086609	20086609	G	A	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon2:c.G646A:p.A216T,DGCR8:NM_022720:exon2:c.G646A:p.A216T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00193208963559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.09401	T	0.575	0.08654	T	0.0	0.02946	B	0.0	0.04355	B	0.133168	0.18560	N	0.585440	0.961	0.26140	N	-0.345	0.03330	N	1.54	0.30133	T	-0.27	0.11366	N	0.035	0.05037	-0.9799	0.35025	T	0.028	0.11971	T	10	0.027662486	0.00909	T	0.001932	0.03430	T	0.083	0.24192	0.19	0.10039	0.128874641272	0.12493	0.0497393239573337	0.04916	0.461642990956	0.45703	0.323139131069	0.13896	T	0.039902	0.25348	T	-0.384546	0.02916	T	-0.79015	0.02161	T	0.0463597104420978	0.04850	T	0.689231	0.29860	T	0.019033695	0.00428	0.036093496	0.02989	0.019033695	0.00428	0.036093496	0.02988	-4.433	0.30001	T	.	.	0.066	0.02829	B	.;.;.	.;.;.	0.946070	0.13218	9.720	0.91884284865738175	0.21202	0.53784	0.29456	D	AEFGBHCI	.	.	.	-0.843617222102925	0.12207	0.5936505	-0.700013108260653	0.16960	0.8996539	0.999902649838013	0.45458	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.56	0.209	0.14503	-0.220000	0.09220	0.559000	0.19493	0.618000	0.50648	0.490000	0.26879	0.985000	0.30750	0.998000	0.85391	0.3757:0.0:0.6243:0.0	7.795	0.28304	534	0.73357	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	80.04	42	chr22	20086609	.	G	A	80.04	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.501;DP=1008;ExcessHet=0;FS=128.648;InbreedingCoeff=-0.1694;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=-1.55;SOR=7.523	GT:AD:DP:GQ:PL	0/1:93,42:135:89:89,0,1561	6	0	1	3
chr22	20090052	20090052	G	A	exonic	DGCR8	.	nonsynonymous SNV	DGCR8:NM_001190326:exon5:c.G1100A:p.S367N,DGCR8:NM_022720:exon5:c.G1100A:p.S367N	.	417	1101	4	0	0	4	0.00181324	.	.	.	2237156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00301021311388	7.7e-05	0.000599042	0.0003	0	0.0002	0	0	0.0003	0	0.0013	0.000304	47	154602	rs145885136	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0.0002	0.0002	0	0	0.0001	0.0028	0.0002	0.0004	0.0010	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	2.406e-05	0	0.0001	0	0	9.416e-05	0	0.0005	0.0005	0.0014	0.993	0.02057	T	0.81	0.03968	T	0.0	0.02946	B	0.0	0.04355	B	0.050787	0.23039	N	0.523136	1	0.08975	N	0.435	0.12660	N	1.58	0.29085	T	0.36	0.03700	N	0.172	0.20129	-1.0021	0.29313	T	0.021	0.08917	T	10	0.006638795	0.00150	T	0.00301	0.06457	T	0.058	0.16647	.	.	0.168254554758	0.16434	0.10410192845986155	0.10340	0.444651635802	0.44368	0.386800229549	0.23217	T	0.027038	0.19884	T	-0.670359	0.00055	T	-0.792048	0.02109	T	0.00930253370207399	0.00118	T	0.644436	0.25592	T	0.020965641	0.00675	0.03642604	0.03086	0.020965641	0.00675	0.03642604	0.03086	-3.834	0.26534	T	.	.	0.057	0.00573	B	.;.;.	.;.;.	0.108114	0.05080	1.619	0.80561314442821363	0.13261	0.39315	0.26185	N	AEFDBCI	0.065971	0.12897	N	-1.03483059164331	0.07888	0.3679912	-0.938095346857306	0.11200	0.5691298	0.999995720959474	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.31	-2.55	0.05922	0.481000	0.21969	-0.060000	0.12436	0.618000	0.50648	0.984000	0.35821	0.000000	0.08366	0.962000	0.52141	0.3055:0.1064:0.4797:0.1084	3.445	0.07046	536	0.73233	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.006793	0.005848	0.000000	0.000000	0.000000	0.003788	0.05	2278.43	33	chr22	20090052	.	G	A	2278.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.629;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.839;SOR=0.691	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1350	9	0	1	0
chr22	20112643	20112643	-	C	exonic	TRMT2A	.	frameshift insertion	TRMT2A:NM_001331039:exon12:c.1851dupG:p.P618Afs*15,TRMT2A:NM_022727:exon12:c.1797dupG:p.P600Afs*15,TRMT2A:NM_182984:exon13:c.1797dupG:p.P600Afs*15	.	426	1079	17	0	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00499201	0.0094	0.0015	0.0017	0.0001	0.0118	0.0117	0.0066	0.0145	0.0011142	29	26028	rs554627514	0.0094	0.0094	0.0091	0.0097	0.0148	0.0093	0.0092	0.0142	0.0139	0.0013	0.0029	0.0029	0	0.0121	0.0049	0.0100	0.0078	0.0148	0.0066	0.0066	0.0067	0.0065	0.0137	0.0063	0.0061	0.0110	0.0100	0.0015	0	0.0041	0.0026	0	0.0089	0.0102	0.0103	0.0047	0.0137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.008152	0.002924	0.000000	0.008621	0.012195	0.022727	0.05	1292.39	116	chr22	20112643	.	G	GC	1292.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.778;DP=457;ExcessHet=0;FS=2.402;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=1.16;SOR=0.551	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1093	9	0	1	0
chr22	20566526	20566526	-	CAGCAGCAGCAG	exonic	MED15	.	nonframeshift insertion	MED15:NM_001293236:exon6:c.537_538insCAGCAGCAGCAG:p.Q191_A192insQQQQ,MED15:NM_001003891:exon7:c.750_751insCAGCAGCAGCAG:p.Q262_A263insQQQQ,MED15:NM_001293234:exon7:c.750_751insCAGCAGCAGCAG:p.Q262_A263insQQQQ,MED15:NM_001293235:exon7:c.672_673insCAGCAGCAGCAG:p.Q236_A237insQQQQ,MED15:NM_001293237:exon7:c.672_673insCAGCAGCAGCAG:p.Q236_A237insQQQQ,MED15:NM_015889:exon7:c.750_751insCAGCAGCAGCAG:p.Q262_A263insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0038	0.0013	0.0003	0.0039	0.0015	0	0.0028	0.0003074	8	26028	rs780625319	0.0014	0.0014	0.0014	0.0015	0.0114	0.0014	0.0014	0.0092	0.0084	0.0054	0.0013	0.0061	0.0002	0.0048	0.0114	0.0009	0.0023	0.0026	0.0028	0.0028	0.0025	0.0032	0.0047	0.0026	0.0025	0.0042	0.0040	0.0047	0.0089	0.0024	0.0078	0.0004	0.0060	0.0103	0.0011	0.0034	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3625.54	34	chr22	20566526	.	A	ACAGCAGCAGCAG	3625.54	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.25;DP=515;ExcessHet=0.6204;FS=8.117;InbreedingCoeff=0.0476;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=1.02;SOR=0.57	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,103,1074	9	1	0	0
chr22	20713301	20713301	C	G	exonic	PI4KA	.	nonsynonymous SNV	PI4KA:NM_001362862:exon47:c.G5458C:p.V1820L,PI4KA:NM_001362863:exon47:c.G5485C:p.V1829L,PI4KA:NM_058004:exon48:c.G5551C:p.V1851L	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	421	1056	45	0	0	45	0.0208623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	.	.	.	0.0202	0.0063	0.0605	0.0527	0.0082	0.0064	0.0172	0.0338	3.84e-05	1	26028	rs2539908	2.797e-06	1.783e-05	2.776e-06	2.817e-06	4.715e-05	6.5e-07	4.4e-07	7.81e-06	2.92e-06	0	4.715e-05	0	0	1.946e-05	0	9.146e-07	0	0	1.985e-05	0.0002	1.291e-05	2.716e-05	4.854e-05	5.28e-06	2.46e-06	8.04e-06	3.01e-06	4.854e-05	0	0	0	0	0	0	1.475e-05	0	0	0.013	0.53900	D	0.013	0.63109	D	0.073	0.24078	B	0.248	0.38946	B	0.000021	0.62929	D	0.116872	1	0.81001	D	.	.	.	-0.98	0.75789	T	-2.69	0.57435	D	0.869	0.86618	0.369	0.88627	D	0.599	0.85735	D	10	0.01217702	0.00263	T	.	.	.	0.724	0.90280	.	.	0.605592448911	0.60243	0.6654920846434981	0.66486	1.74699568536	0.90943	0.831675469875	0.86819	D	0.79687	0.94779	D	0.229653	0.76689	D	0.0921041	0.76385	D	0.0803201361400897	0.10029	T	0.786621	0.42620	T	0.23820485	0.46695	0.27315837	0.53232	0.30731863	0.53553	0.33544958	0.59358	-11.766	0.83692	D	.	.	0.998	0.97755	P	.;.	.;.	4.749898	0.76689	26.6	0.99595769859117222	0.73866	0.98823	0.87323	D	AEFDBI	0.887850	0.82045	D	0.46259864049377	0.64920	4.757898	0.43892521500404	0.64010	4.646552	0.995158567282838	0.33979	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.69	3.65	0.40985	5.917000	0.69720	7.596000	0.61403	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.1509:0.8491:0.0:0.0	14.187	0.65154	946	0.12043	Phosphatidylinositol 3/4-kinase, conserved site|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3/4-kinase, conserved site|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.014052	0.020833	0.005479	0.026087	0.000000	0.027273	0.014706	0.016949	0.05	30.43	35	chr22	20713301	.	C	G	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=350;ExcessHet=0;FS=2.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.25;MQRankSum=-6.661;QD=0.66;ReadPosRankSum=-2.01;SOR=1.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:33,0:33:99:.:.:0,99,998:.	9	0	1	0
chr22	20996785	20996785	T	C	exonic	LZTR1	.	nonsynonymous SNV	LZTR1:NM_006767:exon19:c.T2309C:p.V770A	Noonan syndrome 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	798071	LZTR1-related_schwannomatosis|not_specified|not_provided|Hereditary_cancer-predisposing_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0014299,MedGen:C3810283,OMIM:615670,Orphanet:93921|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.335	0.0938021153193	.	.	4.975e-05	0	0	0	0	3.022e-05	0	0.0002	4.53e-05	7	154602	rs752880731	2.942e-05	2.941e-05	2.043e-05	3.851e-05	0.0005	2.217e-05	1.97e-05	0.0002	0.0002	0	0	0	0	0	0.0005	1.259e-05	4.968e-05	0.0003	1.971e-05	1.969e-05	2.571e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	1.471e-05	0	0.0002	0.197	0.20607	T	0.462	0.12526	T	0.979	0.59044	D	0.581	0.50218	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.5	0.37844	L	-0.46	0.70014	T	-1.43	0.35194	N	0.827	0.82257	-0.4214	0.71347	T	0.392	0.74546	T	10	0.36777124	0.53237	T	0.093802	0.76138	D	0.335	0.65718	0.437	0.48993	0.662442163852	0.65961	0.5158371027638383	0.51506	0.0763063782578	0.08565	0.787131428719	0.80006	T	0.066024	0.32839	T	-0.0741497	0.40660	T	-0.0439635	0.67433	D	0.218964889645576	0.21412	T	0.810219	0.46129	T	0.2103275	0.43326	0.15434203	0.36228	0.2103275	0.43326	0.15434203	0.36227	-9.124	0.68491	D	0.12599599016221305	0.12637	0.433	0.61357	A	.;.	.;.	4.797793	0.77929	26.8	0.99486029985715463	0.67180	0.98758	0.86475	D	AEFGBHCI	0.817808	0.73921	D	0.505935215048662	0.67441	5.081948	0.537756541897708	0.70548	5.521707	0.999999999998515	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.36	5.36	0.76624	6.042000	0.70632	7.785000	0.68758	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.352	0.60051	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1737.43	34	chr22	20996785	.	T	C	1737.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.767;DP=497;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-1.412;SOR=0.674	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr22	21001287	21001287	C	G	exonic	THAP7	.	nonsynonymous SNV	THAP7:NM_030573:exon2:c.G205C:p.E69Q,THAP7:NM_001008695:exon3:c.G205C:p.E69Q	.	413	1080	28	1	0	30	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.495	.	0.0029	0.00359425	0.0042	0.0008	0.0022	0.0001	0.0005	0.0044	0.0022	0.0103	0.0038292	592	154602	rs145388226	0.0037	0.0037	0.0033	0.0041	0.0153	0.0036	0.0036	0.0127	0.0117	0.0004	0.0021	0.0052	0	0.0004	0.0153	0.0035	0.0050	0.0107	0.0029	0.0029	0.0030	0.0029	0.0100	0.0027	0.0026	0.0077	0.0069	0.0005	0	0.0036	0.0066	0	0.0003	0.0170	0.0042	0.0019	0.0100	0.071	0.35165	T	0.065	0.44702	T	0.999	0.77913	D	0.959	0.70163	D	0.005322	0.32892	N	0.207655	0.984501	0.40154	D	1.86	0.49225	L	-4.04	0.96465	D	-1.0	0.26422	N	0.51	0.54147	0.868	0.95255	D	0.878	0.95945	D	10	0.011849105	0.00257	T	.	.	.	0.495	0.78036	.	.	0.928443736517	0.92771	0.5106856479628384	0.50990	1.04383462817	0.75888	0.704212069511	0.67754	T	0.470217	0.80343	T	-0.0868601	0.38593	T	0.11185	0.77694	D	0.0140772103541453	0.00273	T	0.733327	0.34901	T	0.17945296	0.39017	0.0818451	0.18634	0.17945296	0.39017	0.0818451	0.18634	-6.156	0.47566	T	.	.	0.173	0.39630	B	.;.	.;.	4.919085	0.81005	27.4	0.99763001721582423	0.85254	0.82732	0.41920	D	AEFDGBHCI	0.284901	0.39765	N	0.501033597613452	0.67151	5.043596	0.531477224639649	0.70120	5.45857	0.999999999999998	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	5.32	5.32	0.75377	2.065000	0.41068	7.533000	0.59948	0.599000	0.40250	0.928000	0.32210	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	16.538	0.84226	851	0.35303	THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger;THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger|THAP-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.002717	0.005848	0.000000	0.008621	0.021472	0.003788	0.05	912.43	33	chr22	21001287	.	C	G	912.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.16;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=1.5;SOR=0.722	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1029	9	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:10,2:12:50:50,0,262	2	0	8	0
chr22	21221866	21221866	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.G382A:p.G128R	.	367	1072	83	0	0	83	0.0372699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	.	.	.	0.0101	0.0015	0.0037	0.0001	0.0029	0.0088	0.0164	0.0331	0.0010373	27	26028	rs201167132	0.0033	0.0036	0.0033	0.0034	0.0057	0.0031	0.0031	0.0042	0.0038	0	0.0032	0.0150	4.759e-05	0.0013	0.0057	0.0034	0.0043	0.0053	0.0035	0.0055	0.0035	0.0035	0.0142	0.0032	0.0030	0.0107	0.0094	0.0007	0.0014	0.0034	0.0237	0.0006	0.0013	0.0254	0.0041	0.0046	0.0142	0.005	0.63226	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999955	0.52396	D	.	.	.	2.16	0.19166	T	-6.12	0.90060	D	0.284	0.32148	-0.7560	0.57620	T	0.158	0.49076	T	6	0.01360032	0.00288	T	.	.	.	0.205	0.49236	0.762	0.89053	.	.	0.9514192744851678	0.95125	3.4416008843	0.99721	.	.	.	.	.	.	-0.084608	0.38964	T	-0.35931	0.38133	T	0.0540700048513329	0.06201	T	0.90231	0.65919	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65132	A	.;.	.;.	1.949334	0.24760	16.52	0.99714884515000801	0.81633	0.95373	0.64467	D	AEFDBI	0.718415	0.66962	D	0.309555566560693	0.56638	3.828811	0.0371836120562764	0.41456	2.490915	0.148356361276714	0.17397	0.549168	0.22868	0	0.627178	0.54094	0	0.600433	0.31921	0	0.564101	0.26826	0	.	.	2.4	2.4	0.28568	6.258000	0.72447	7.360000	0.58341	0.288000	0.18739	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:1.0:0.0:0.0	8.346	0.31437	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	219.43	39	chr22	21221866	.	C	T	219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=498;ExcessHet=0;FS=0.922;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.5;MQRankSum=-0.258;QD=1.51;ReadPosRankSum=1.31;SOR=0.885	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1244	9	0	1	0
chr22	21221897	21221897	G	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon8:c.C351A:p.S117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00293438226244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.23905	T	0.087	0.42086	T	.	.	.	.	.	.	.	.	.	.	0.996417	0.23022	N	.	.	.	3.14	0.07920	T	-1.43	0.35194	N	0.158	0.16447	-0.9669	0.37834	T	0.015	0.06042	T	7	0.22265306	0.39023	T	0.002934	0.06221	T	0.097	0.27909	0.534	0.64293	0.043077524339	0.03247	0.36817744738067076	0.36731	1.93781020124	0.93215	.	.	.	.	.	.	-0.321371	0.06786	T	-0.699404	0.05859	T	0.36116955568088	0.27455	T	0.550145	0.18957	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.55617	B	.;.	.;.	1.618993	0.20681	14.86	0.97841901274871423	0.36332	0.76670	0.37621	D	AEFDBI	0.177013	0.30424	N	-0.211117377127981	0.32677	1.845458	-0.229100765260101	0.30499	1.717718	1.38587184881176E-5	0.02871	0.553676	0.25195	0	0.563428	0.19063	0	0.600433	0.31921	0	0.620846	0.47308	0	.	.	2.4	1.36	0.21139	3.770000	0.55020	3.561000	0.39087	0.322000	0.19397	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.1994:0.0:0.8006:0.0	4.456	0.11063	444	0.79803	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	565.43	39	chr22	21221897	.	G	T	565.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=495;ExcessHet=0;FS=13.355;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.06;MQRankSum=-0.85;QD=3.93;ReadPosRankSum=2.04;SOR=1.733	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1244	9	0	1	0
chr22	21636684	21636684	C	T	exonic	CCDC116	.	nonsynonymous SNV	CCDC116:NM_152612:exon5:c.C1456T:p.R486C	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0119427295809	7.7e-05	.	3.304e-05	0	0	0.0002	0	3.008e-05	0	0	2.59e-05	4	154602	rs375044936	1.368e-05	1.368e-05	1.634e-05	1.1e-05	0.0003	8.94e-06	7.26e-06	6.094e-05	2.522e-05	2.987e-05	6.708e-05	0	0.0001	0	0.0003	8.993e-06	0	0	1.972e-05	1.97e-05	0	4.037e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.94e-05	0	0	0.01	0.56456	D	0.008	0.67890	D	.	.	.	.	.	.	0.010815	0.01287	N	2.692820	1	0.08975	N	0.345	0.11182	N	2.62	0.12988	T	-2.71	0.57762	D	0.186	0.20262	-1.0410	0.17011	T	0.024	0.10239	T	10	0.09136385	0.15999	T	0.011943	0.30057	T	0.062	0.17934	.	.	0.287603790349	0.28378	0.053356699290155504	0.05277	0.728362422751	0.62609	0.215942502022	0.01088	T	0.022762	0.17490	T	-0.460155	0.00981	T	-0.673056	0.07414	T	0.294436872005463	0.24774	T	0.60344	0.22635	T	0.11040578	0.26097	0.076185286	0.16849	0.11040578	0.26097	0.076185286	0.16849	-4.894	0.35667	T	.	.	0.111	0.21578	B	.	.	1.255395	0.16525	12.60	0.98051661175658233	0.37874	0.03642	0.08892	N	AEFDBHCI	0.064464	0.12517	N	-0.652359776245304	0.17393	0.8945453	-0.83606114088844	0.13623	0.7077136	0.999999705646514	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.55	-2.06	0.06894	-0.289000	0.08401	.	.	-0.314000	0.05961	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.3996:0.2451:0.2607:0.0946	2.318	0.03946	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1323.43	34	chr22	21636684	.	C	T	1323.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.393;DP=394;ExcessHet=0;FS=0.962;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=-0.591;SOR=0.839	GT:AD:DP:GQ:PL	0/1:21,52:73:99:1335,0,384	9	0	1	0
chr22	21644159	21644159	G	A	exonic	SDF2L1	.	nonsynonymous SNV	SDF2L1:NM_022044:exon3:c.G650A:p.G217D	.	427	1088	6	1	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0447191739502	0.0038	0.00159744	0.0027	0.0010	0.0013	0	0.0002	0.0044	0.0011	0.0004	0.0027684	428	154602	rs115168940	0.0038	0.0038	0.0039	0.0038	0.0073	0.0037	0.0037	0.0055	0.0049	0.0013	0.0014	0.0059	0	0.0005	0.0073	0.0045	0.0044	0.0005	0.0024	0.0024	0.0024	0.0025	0.0041	0.0022	0.0022	0.0037	0.0036	0.0008	0	0.0020	0.0049	0	0.0004	0.0034	0.0041	0.0024	0.0002	0.57	0.06184	T	0.681	0.06090	T	0.514	0.37393	P	0.054	0.25828	B	0.016671	0.27917	N	0.371241	0.781482	0.34272	D	1.59	0.40313	L	-1.22	0.78752	T	0.1	0.05810	N	0.266	0.30118	-0.7785	0.56387	T	0.116	0.40986	T	10	0.0073853135	0.00168	T	0.044719	0.61626	D	0.313	0.63482	.	.	0.765095103448	0.76294	0.6927252417250336	0.69212	0.726935891434	0.62541	0.406749486923	0.26007	T	0.009684	0.08804	T	-0.301714	0.08499	T	-0.204249	0.54243	T	0.0133324912370801	0.00240	T	0.620638	0.23835	T	0.1369972	0.31739	0.14080918	0.33553	0.1369972	0.31739	0.14080918	0.33552	-3.821	0.21119	T	.	.	0.099	0.16886	B	.	.	1.904878	0.24190	16.30	0.96348574672304754	0.29506	0.65494	0.32756	D	AEFDGBHCI	0.442773	0.50036	N	-0.60194394863958	0.18886	0.9841236	-0.526318390417999	0.21439	1.159821	0.999999999962908	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.630245	0.45026	0	0.735409	0.98432	0	.	.	4.62	3.58	0.40133	1.681000	0.37234	.	.	0.613000	0.49114	0.008000	0.17931	1.000000	0.68203	0.959000	0.51448	0.0:0.1674:0.8326:0.0	12.649	0.56113	946	0.12043	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.013587	0.011696	0.000000	0.000000	0.006098	0.003788	0.1	3231.14	33	chr22	21644159	.	G	A	3231.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.14;DP=493;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-0.576;SOR=0.704	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1150	8	0	2	0
chr22	21867418	21867418	-	CCG	exonic	MAPK1	.	nonframeshift insertion	MAPK1:NM_002745:exon1:c.22_23insCGG:p.A7_G8insA,MAPK1:NM_138957:exon1:c.22_23insCGG:p.A7_G8insA	.	10	1488	21	0	3	24	0.00700701	.	.	.	1164574	MAPK1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0052	0	0	0	0	0.0031	0	0.0147	0.0001153	3	26028	rs770506771	0.0044	0.0040	0.0042	0.0045	0.0455	0.0042	0.0042	0.0406	0.0388	0.0017	0.0455	0.0024	0.0007	0.0062	0.0063	0.0035	0.0055	0.0326	0.0084	0.0086	0.0070	0.0099	0.0416	0.0081	0.0079	0.0369	0.0351	0.0032	0.0220	0.0365	0.0035	0.0031	0.0082	0.0069	0.0037	0.0024	0.0416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1656.1	37	chr22	21867418	.	C	CCCG	1656.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.66;DP=402;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.26;ReadPosRankSum=0.214;SOR=0.693	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,105,1575	8	0	2	0
chr22	21939549	21939551	TCC	-	exonic	PPM1F	.	nonframeshift deletion	PPM1F:NM_014634:exon3:c.336_338del:p.E113del	.	398	1089	34	1	0	36	0.0162602	.	.	.	2090960	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0058	0.00399361	0.0070	0.0009	0.0049	0	0.0032	0.0079	0	0.0121	0.0029968	78	26028	rs551955938	0.0046	0.0047	0.0044	0.0049	0.0111	0.0045	0.0045	0.0095	0.0093	0.0006	0.0028	0.0043	0	0.0013	0.0111	0.0047	0.0040	0.0101	0.0036	0.0036	0.0036	0.0035	0.0083	0.0033	0.0032	0.0063	0.0055	0.0008	0.0154	0.0031	0.0058	0	0.0008	0	0.0054	0.0052	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009063	0.005051	0.004076	0.014620	0.000000	0.017241	0.006098	0.015152	0.05	1412.39	36	chr22	21939548	.	TTCC	T	1412.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.557;DP=415;ExcessHet=0;FS=1.707;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.87;ReadPosRankSum=0.992;SOR=0.483	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1035	9	0	1	0
chr22	21960392	21960392	G	A	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon14:c.C1583T:p.T528M,TOP3B:NM_001282113:exon14:c.C1583T:p.T528M,TOP3B:NM_003935:exon14:c.C1583T:p.T528M,TOP3B:NM_001349845:exon15:c.C1583T:p.T528M,TOP3B:NM_001349847:exon15:c.C1583T:p.T528M,TOP3B:NM_001349848:exon15:c.C1175T:p.T392M,TOP3B:NM_001349851:exon15:c.C1175T:p.T392M,TOP3B:NM_001349850:exon16:c.C1175T:p.T392M,TOP3B:NM_001349852:exon16:c.C1175T:p.T392M	.	415	1097	10	0	0	10	0.00453721	.	.	.	3219483	TOP3B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.195	0.0425010395945	7.7e-05	0.000599042	0.0003	9.679e-05	8.67e-05	0.0003	0	4.531e-05	0	0.0018	0.0002717	42	154602	rs147509770	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0020	0.0019	8.962e-05	8.945e-05	0	7.557e-05	0	0.0005	5.306e-05	0.0001	0.0022	0.0001	0.0001	0.0001	0.0001	0.0025	8.165e-05	6.722e-05	0.0014	0.0011	2.406e-05	0	0	0	0.0002	0	0	7.353e-05	0	0.0025	0.03	0.45393	D	0.072	0.43344	T	0.991	0.64070	D	0.867	0.61644	P	0.001143	0.40056	N	0.302936	0.999846	0.81001	D	2.36	0.67893	M	1.89	0.23688	T	-3.07	0.63207	D	0.473	0.50868	-0.9014	0.47846	T	0.142	0.46294	T	10	0.036013365	0.01877	T	0.042501	0.60499	D	0.226	0.52472	.	.	0.651897154517	0.64899	0.6038160417844033	0.60312	0.600032869069	0.55099	0.484015822411	0.36609	T	0.208799	0.56883	T	-0.394629	0.02510	T	-0.346109	0.39651	T	0.12212483032637	0.14636	T	0.985451	0.95004	D	0.18290748	0.39533	0.19713458	0.43479	0.18290748	0.39533	0.19713458	0.43478	-8.135	0.61986	D	.	.	0.069	0.02993	B	.;.	.;.	3.269241	0.44742	22.0	0.99770295086759542	0.85834	0.94587	0.61652	D	AEFBHCI	0.572043	0.57579	D	0.23492681432104	0.52897	3.461274	0.10889608198656	0.45001	2.771286	0.999999999993348	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.69	3.4	0.38031	6.419000	0.73253	.	.	0.669000	0.69127	1.000000	0.71638	0.986000	0.30841	0.083000	0.17415	0.0778:0.0:0.9222:0.0	15.258	0.73299	699	0.57969	DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central;DNA topoisomerase, type IA, central|DNA topoisomerase, type IA, DNA-binding domain|DNA topoisomerase, type IA, central	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	989.43	34	chr22	21960392	.	G	A	989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.114;DP=436;ExcessHet=0;FS=1.514;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=-2.408;SOR=0.842	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,100,1285	9	0	1	0
chr22	22488805	22488805	A	C	exonic	ZNF280B	.	nonsynonymous SNV	ZNF280B:NM_080764:exon4:c.T594G:p.N198K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00252688950903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.061	0.04307	-0.9942	0.31512	T	0.029	0.12409	T	9	0.05628407	0.06286	T	0.002527	0.05065	T	.	.	0.475	0.55182	0.0954503805726	0.09146	0.06166468175566257	0.06106	.	.	0.266985476017	0.05751	T	.	.	.	-0.336859	0.05609	T	-0.721651	0.04716	T	0.0755121106860529	0.09403	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14660	B	.;.	.;.	0.250540	0.06301	2.756	0.4548289947603445	0.03573	0.10114	0.15709	N	AEFBCI	0.091929	0.18615	N	-1.08875478264031	0.06849	0.3164875	-1.11981966354707	0.07322	0.3557024	0.99962066985609	0.41093	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.32	-0.817	0.10289	0.215000	0.17352	.	.	0.756000	0.94297	0.021000	0.19753	0.009000	0.19889	0.156000	0.20513	0.4114:0.3318:0.096:0.1608	1.752	0.02796	976	0.04745	Domain of unknown function DUF4195;Domain of unknown function DUF4195	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1761.43	43	chr22	22488805	.	A	C	1761.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.373;DP=503;ExcessHet=0;FS=0.59;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.194;SOR=0.616	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1233	9	0	1	0
chr22	22893764	22893764	G	A	exonic	IGLL5	.	nonsynonymous SNV	IGLL5:NM_001178126:exon2:c.G271A:p.E91K	.	221	1300	1	0	0	1	0.000384468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0013323200771	.	.	8.536e-06	0	0	0	0	1.533e-05	0	0	3.84e-05	1	26028	rs780170000	8.912e-06	8.893e-06	1.228e-05	5.512e-06	0.0001	4.97e-06	3.83e-06	5.399e-05	4.044e-05	0	0	0	0	0	0	2.703e-06	1.662e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.524	0.07163	T	0.858	0.03428	T	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.11	0.08516	N	6.6	0.00518	T	0.03	0.06612	N	0.162	0.17140	-1.0008	0.29688	T	0.001	0.00255	T	9	0.064441204	0.08546	T	0.001332	0.01885	T	0.088	0.25558	0.528	0.63412	0.0138822411134	0.00435	0.3248549572680669	0.32398	.	.	.	.	.	0.007097	0.10324	T	-0.230114	0.16634	T	-0.568319	0.15603	T	0.0219013190740585	0.00898	T	0.329867	0.06895	T	0.025624841	0.01522	0.043898933	0.05568	0.025624841	0.01522	0.043898933	0.05567	-3.71	0.19466	T	.	.	0.095	0.19478	B	.;.	.;.	0.862627	0.12349	8.890	0.6371960184901353	0.07299	0.06386	0.12388	N	AEFDGBHCI	0.064658	0.12568	N	-1.53081958122469	0.01650	0.07217557	-1.55712885552432	0.01927	0.08793651	0.999261986527133	0.38940	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.39	-2.76	0.05547	0.183000	0.16729	-2.542000	0.03629	-2.652000	0.00222	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4532:0.1799:0.3669:0.0	4.124	0.09587	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2402.43	40	chr22	22893764	.	G	A	2402.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.327;DP=550;ExcessHet=0;FS=2.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.225;SOR=0.919	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1415	9	0	1	0
chr22	23059518	23059518	C	T	exonic	RSPH14	.	nonsynonymous SNV	RSPH14:NM_014433:exon7:c.G991A:p.E331K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	0.0064	0.00499201	0.0017	0.0174	0.0010	0	0	0.0001	0.0011	0	0.0016171	250	154602	rs35881601	0.0006	0.0006	0.0007	0.0005	0.0182	0.0005	0.0005	0.0170	0.0165	0.0182	0.0011	0	0	0	0.0009	9.083e-05	0.0012	2.319e-05	0.0046	0.0046	0.0048	0.0044	0.0160	0.0043	0.0042	0.0150	0.0146	0.0160	0	0.0010	0	0	0	0.0136	0.0001	0.0019	0	0.441	0.09236	T	0.136	0.34009	T	0.297	0.32486	B	0.015	0.17295	B	0.141128	0.18287	U	0.426141	1	0.08975	N	.	.	.	1.31	0.35405	T	-1.32	0.32991	N	0.286	0.32370	-0.9984	0.30367	T	0.019	0.08173	T	10	0.0056070983	0.00124	T	.	.	.	0.036	0.09122	.	.	0.0806252709748	0.07271	0.33719632424649787	0.33632	0.0378799756702	0.04022	0.336980044842	0.15985	T	0.034682	0.23417	T	-0.704151	0.00034	T	-0.769961	0.02769	T	0.00496675466765927	0.00053	T	0.477752	0.14377	T	0.025501456	0.01495	0.036009185	0.02962	0.025501456	0.01495	0.036009185	0.02962	-5.082	0.37717	T	.	.	0.091	0.13174	B	.	.	0.788636	0.11589	8.181	0.95249440915040795	0.26504	0.10820	0.16215	N	AEFDBI	0.078276	0.15789	N	-1.23005951294644	0.04569	0.206493	-1.33170685925118	0.04026	0.1890519	0.999084327888007	0.38397	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.08	-4.37	0.03381	-0.001000	0.12880	-0.227000	0.10711	-0.182000	0.10109	0.046000	0.21249	0.000000	0.08366	0.001000	0.02609	0.121:0.3076:0.2761:0.2953	1.474	0.02276	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.015152	0.014946	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1387.43	35	chr22	23059518	.	C	T	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.068;DP=426;ExcessHet=0;FS=4.693;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.311;SOR=0.519	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1333	9	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3559.91	73	chr22	23311788	.	T	TCCGG	3559.91	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.584;DP=874;ExcessHet=7.0302;FS=18.299;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.4;MQRankSum=-7.428;QD=5.06;ReadPosRankSum=0.133;SOR=1.82	GT:AD:DP:GQ:PL	0/1:88,12:100:99:238,0,3639	3	0	7	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	586.45	59	chr22	23311830	.	G	A	586.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.54;DP=598;ExcessHet=0.7463;FS=41.55;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=57.49;MQRankSum=-8.96;QD=2;ReadPosRankSum=-2.878;SOR=3.036	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	7	0	3	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2983.14	146	chr22	23765457	.	G	A	2983.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.67;DP=545;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=2.42;SOR=0.69	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1272	8	0	2	0
chr22	23767396	23767396	G	A	exonic	CHCHD10	.	nonsynonymous SNV	CHCHD10:NM_001301339:exon2:c.C239T:p.P80L,CHCHD10:NM_213720:exon2:c.C239T:p.P80L	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Autosomal dominant;Spinal muscular atrophy, Jokela type, Autosomal dominant	430	1083	8	1	0	10	0.00459559	.	.	.	200688	Amyotrophic_lateral_sclerosis|not_provided|CHCHD10-related_disorder|Inborn_genetic_diseases|Lower_motor_neuron_syndrome_with_late-adult_onset|Frontotemporal_dementia_and/or_amyotrophic_lateral_sclerosis_2|Autosomal_dominant_mitochondrial_myopathy_with_exercise_intolerance	Human_Phenotype_Ontology:HP:0007354,MONDO:MONDO:0004976,MedGen:C0002736,Orphanet:803|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014025,MedGen:C3554398,OMIM:615048,Orphanet:276435|MONDO:MONDO:0014395,MedGen:C4014648,OMIM:615911,Orphanet:275872|MONDO:MONDO:0014532,MedGen:C4015513,OMIM:616209,Orphanet:457050	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.209	0.148140662492	.	.	0.0003	0	0.0005	0	0	0.0005	0.0016	0.0001	0.0002199	34	154602	rs775332895	0.0003	0.0003	0.0002	0.0003	0.0053	0.0002	0.0002	0.0036	0.0030	0.0001	0.0004	0.0031	0	0	0.0053	0.0002	0.0008	0.0001	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	7.91e-05	5.995e-05	2.407e-05	0	0.0002	0.0032	0	0	0.0306	0.0001	0.0014	0.0002	0.03	0.45756	D	0.099	0.42614	T	0.006	0.13644	B	0.003	0.08700	B	0.000020	0.62929	D	0.068756	1	0.81001	D	2.815	0.81989	M	0.77	0.49919	T	-3.69	0.81350	D	0.291	0.40864	-0.9373	0.43041	T	0.120	0.41886	T	10	0.024107188	0.00652	T	0.148141	0.83009	D	0.209	0.49871	.	.	0.307332253619	0.30352	0.3363326049649592	0.33546	0.525480461567	0.50209	0.57265996933	0.49054	T	0.192511	0.55454	T	-0.310997	0.07661	T	-0.356541	0.38453	T	0.203633466627662	0.20615	T	0.773923	0.40554	T	0.24851625	0.47838	0.29895586	0.55930	0.2675743	0.49828	0.24994572	0.50575	-10.671	0.77823	D	0.57011163419731	0.63733	0.213	0.44161	B	.;.	.;.	4.719142	0.75895	26.4	0.99354833210579085	0.60738	0.93675	0.58871	D	AEFDGBCI	0.939817	0.94091	D	-0.0561776601896449	0.39326	2.317335	0.0444492831249205	0.41804	2.517685	0.999999999999737	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.581474	0.35302	0	.	.	3.66	3.66	0.41111	6.625000	0.74112	9.564000	0.80999	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.300000	0.24500	0.0:0.0:1.0:0.0	13.735	0.62295	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009734	0.010204	0.008197	0.032738	0.000000	0.017241	0.000000	0.003876	0.05	1100.43	41	chr22	23767396	.	G	A	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.827;DP=445;ExcessHet=0;FS=2.816;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-1.029;SOR=1.025	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1182	9	0	1	0
chr22	24184196	24184196	A	G	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon4:c.A500G:p.Q167R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0159881866537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.0	0.92824	D	0.981	0.59675	D	0.954	0.69447	D	0.000000	0.84330	D	0.000000	0.98526	0.40259	D	3.1	0.87590	M	2.99	0.09262	T	-2.03	0.46673	N	0.827	0.82257	-1.1100	0.03070	T	0.073	0.29483	T	10	0.76971775	0.76984	D	0.015988	0.37021	T	0.248	0.55615	0.531	0.63855	0.318252033908	0.31440	0.9404017170496947	0.94021	0.757803639477	0.64090	0.532331466675	0.43363	T	0.04606	0.27311	T	0.0259974	0.55189	T	-0.200433	0.54606	T	0.964543879032135	0.66990	D	0.855414	0.54290	D	0.26278225	0.49341	0.26346824	0.52152	0.26278225	0.49341	0.26346824	0.52151	-4.037	0.24355	T	.	.	0.677	0.72014	P	.	.	4.053398	0.60094	24.2	0.99698774388286016	0.80453	0.96689	0.70415	D	AEFBI	0.768213	0.70384	D	0.414389128409707	0.62212	4.433595	0.290003101562571	0.54953	3.659138	0.999998116928616	0.74766	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.66	3.66	0.41111	4.390000	0.59409	11.053000	0.85327	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.086000	0.17578	1.0:0.0:0.0:0.0	10.627	0.44707	804	0.43891	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2580.43	37	chr22	24184196	.	A	G	2580.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.426;DP=539;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.586;SOR=0.798	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1370	9	0	1	0
chr22	24623906	24623906	A	G	exonic	GGT1	.	nonsynonymous SNV	GGT1:NM_001288833:exon11:c.A1010G:p.D337G,GGT1:NM_013430:exon11:c.A1010G:p.D337G,GGT1:NM_013421:exon12:c.A1010G:p.D337G	.	472	1015	35	0	0	35	0.0169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.00642018502782	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201278692	0.0001	0.0014	9.32e-05	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	0	0.0002	0.0011	0	7.524e-05	0.0005	5.962e-05	0.0001	0.0011	1.977e-05	0.0002	2.577e-05	1.349e-05	4.424e-05	5.26e-06	2.46e-06	1.175e-05	6.26e-06	0	0	0	0	0	0	0	4.424e-05	0	0	0.042	0.45039	D	0.109	0.37449	T	0.003	0.11197	B	0.008	0.13708	B	0.026060	0.25985	U	0.393704	0.984754	0.24772	N	0.86	0.21358	L	3.06	0.08634	T	-2.81	0.59389	D	0.31	0.37923	-1.0345	0.19014	T	0.023	0.09787	T	10	0.16224849	0.30413	T	0.00642	0.16899	T	0.071	0.20720	.	.	0.221890330934	0.21812	0.7310437235026361	0.75440	.	.	0.432777583599	0.29587	T	0.174211	0.52335	T	-0.213582	0.18877	T	-0.544572	0.17850	T	0.226054698228836	0.21762	T	0.886611	0.61335	D	0.32057133	0.54688	0.22708768	0.47707	0.32057133	0.54688	0.22708768	0.47706	-7.992	0.61016	D	.	.	0.162	0.37558	B	.;.;.;.	.;.;.;.	2.344238	0.30048	18.32	0.96975519854809777	0.31839	0.76743	0.37663	D	AEFI	0.563045	0.57039	D	-0.572254272150079	0.19791	1.03857	-0.607656926219025	0.19295	1.034643	4.35844693757602E-4	0.06970	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	3.53	2.49	0.29274	3.351000	0.51947	4.330000	0.43024	0.725000	0.85415	0.220000	0.24536	0.114000	0.22828	0.481000	0.28588	0.8995:0.0:0.1005:0.0	8.022	0.29573	684	0.59539	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	144.43	39	chr22	24623906	.	A	G	144.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=313;ExcessHet=0;FS=8.688;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=44.46;MQRankSum=-4.3;QD=3.07;ReadPosRankSum=-3.239;SOR=2.376	GT:AD:DP:GQ:PL	0/0:25,0:25:72:0,72,1080	9	0	1	0
chr22	24874423	24874423	G	A	exonic	SGSM1	.	nonsynonymous SNV	SGSM1:NM_001039948:exon13:c.G1300A:p.D434N,SGSM1:NM_133454:exon13:c.G1300A:p.D434N	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0174424626638	0.0003	0.00139776	0.0003	0.0019	0.0003	0	0	4.639e-05	0.0012	0.0004	0.0002587	40	154602	rs186909479	0.0001	0.0001	9.286e-05	0.0001	0.0020	9.837e-05	9.251e-05	0.0016	0.0015	0.0020	0.0005	3.877e-05	5.058e-05	0	0.0007	1.712e-05	0.0003	0.0004	0.0006	0.0006	0.0007	0.0005	0.0018	0.0005	0.0005	0.0015	0.0014	0.0018	0	0.0005	0	0	0	0	2.945e-05	0.0005	0.0006	0.997	0.01938	T	0.729	0.05470	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999998	0.08975	N	0.49	0.13296	N	3.3	0.06368	T	0.41	0.03407	N	0.076	0.05037	-0.9152	0.46194	T	0.010	0.03537	T	9	0.007812887	0.00177	T	0.017442	0.39139	T	0.012	0.01476	.	.	0.082315109003	0.07666	0.1871336922046553	0.18631	0.225505390066	0.25090	0.349540293217	0.17855	T	0.005898	0.05345	T	-0.719836	0.00028	T	-0.825785	0.01339	T	0.00130709587206664	0.00013	T	0.659134	0.26825	T	0.02868884	0.02245	0.035835255	0.02910	0.02868884	0.02244	0.035835255	0.02909	-7.663	0.58750	D	.	.	0.077	0.06250	B	.;.	.;.	0.515741	0.08847	5.624	0.87332881994676115	0.17152	0.01917	0.05860	N	AEFDGBI	0.042292	0.06543	N	-1.34485262101184	0.03178	0.1415585	-1.34841978827546	0.03824	0.1791869	0.00277868603759175	0.09698	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.52	-0.18	0.12643	0.665000	0.24764	2.358000	0.32355	-0.137000	0.12594	0.000000	0.06391	0.027000	0.21108	0.036000	0.13842	0.4206:0.0:0.5794:0.0	6.938	0.23658	598	0.68232	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	345.43	45	chr22	24874423	.	G	A	345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.44;DP=392;ExcessHet=0;FS=15.464;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=-1.079;SOR=2.256	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,972	9	0	1	0
chr22	25039259	25039259	A	G	exonic	KIAA1671	.	nonsynonymous SNV	KIAA1671:NM_001145206:exon3:c.A2129G:p.N710S	.	419	1102	1	0	0	1	0.000453515	.	.	.	2355232	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0136069529937	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs530114371	0.0005	0.0005	0.0002	0.0007	0.0080	0.0004	0.0004	0.0075	0.0073	3.165e-05	0	0	0	0	0.0004	3.707e-06	0.0006	0.0080	0.0003	0.0003	0.0001	0.0004	0.0081	0.0002	0.0002	0.0061	0.0054	0	0	0	0	0.0002	0	0	0	0	0.0081	0.389	0.10874	T	0.152	0.32249	T	0.002	0.09854	B	0.004	0.10090	B	0.289500	0.03885	N	1.510590	1	0.08975	N	0.345	0.11182	N	.	.	.	-0.11	0.08653	N	0.028	0.00666	-1.0314	0.20002	T	0.041	0.17742	T	9	0.0059318244	0.00133	T	0.013607	0.33144	T	0.027	0.05988	0.141	0.04462	0.0482279557977	0.04254	0.021907980680781005	0.02142	.	.	0.214803129435	0.01031	T	0.003238	0.02647	T	-0.362516	0.03990	T	-0.758506	0.03167	T	0.0552996024489403	0.06408	T	0.428957	0.11607	T	0.021419799	0.00743	0.020019269	0.00115	0.021419799	0.00743	0.020019269	0.00115	-3.092	0.11205	T	.	.	0.110	0.21125	B	.;.	.;.	-0.392873	0.02240	0.228	0.57883426245279512	0.05868	0.03318	0.08386	N	AEFDGBCI	0.027735	0.02320	N	-1.49487200703248	0.01886	0.08274148	-1.50829625266019	0.02280	0.1046071	0.0156996546555569	0.12744	0.67177	0.52595	0	0.563428	0.19063	0	0.49644	0.08281	0	0.711	0.71501	0	.	.	4.23	-1.88	0.07294	-0.189000	0.09625	0.650000	0.20403	-0.070000	0.16343	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3885:0.1657:0.4458:0.0	5.386	0.15521	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1824.43	67	chr22	25039259	.	A	G	1824.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.053;DP=590;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=3.06;SOR=0.704	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1077	9	0	1	0
chr22	25768548	25768548	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon4:c.C632T:p.P211L,MYO18B:NM_032608:exon4:c.C632T:p.P211L	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	420	1101	1	0	0	1	0.000453926	.	.	.	1423851	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.149	0.0410908211033	.	.	2.205e-05	0	0.0001	0	0	1.854e-05	0	0	1.29e-05	2	154602	rs764257264	1.365e-05	1.436e-05	1.557e-05	1.166e-05	6.455e-05	8.73e-06	7.03e-06	1.069e-05	6.6e-06	6.455e-05	0	0	0	0	0	1.387e-05	3.487e-05	0	6.583e-06	6.568e-06	1.287e-05	0	6.547e-05	0	0	.	.	0	0	6.547e-05	0	0	0	0	0	0	0	0.175	0.22400	T	0.152	0.32249	T	0.001	0.07471	B	0.001	0.04355	B	0.587888	0.05574	N	1.300310	1	0.08975	N	0.975	0.24501	L	-2.13	0.86481	D	-1.97	0.45587	N	0.091	0.07673	-0.8024	0.55003	T	0.340	0.70640	T	10	0.059815794	0.07250	T	0.041091	0.59735	D	0.149	0.39377	.	.	0.55350970329	0.55009	0.05915908334816703	0.05855	0.0670969358633	0.07497	0.237263262272	0.02549	T	0.041528	0.25887	T	-0.178219	0.24000	T	-0.493776	0.22995	T	0.056632458768991	0.06628	T	0.642236	0.25428	T	0.031141577	0.02900	0.04054467	0.04406	0.031141577	0.02900	0.04054467	0.04405	-4.577	0.31882	T	.	.	0.077	0.17146	B	.;.;.	.;.;.	0.627693	0.09959	6.717	0.59948464685036373	0.06345	0.01934	0.05894	N	AEFBI	0.058258	0.10917	N	-1.22357390031165	0.04660	0.2107868	-1.25495687725636	0.05058	0.240115	0.992643723146123	0.32916	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.72	-2.12	0.06766	-0.174000	0.09830	-3.471000	0.02762	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.050000	0.15192	0.3338:0.4469:0.0:0.2193	4.546	0.11480	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	697.43	38	chr22	25768548	.	C	T	697.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.46;DP=426;ExcessHet=0;FS=4.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.82;ReadPosRankSum=0.035;SOR=1.266	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1202	9	0	1	0
chr22	26027319	26027319	C	T	exonic	MYO18B	.	nonsynonymous SNV	MYO18B:NM_001318245:exon43:c.C7348T:p.R2450W,MYO18B:NM_032608:exon43:c.C7345T:p.R2449W	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, Autosomal recessive	426	1089	7	0	0	7	0.00320366	.	.	.	578584	not_provided|Klippel-Feil_anomaly-myopathy-facial_dysmorphism_syndrome	MedGen:C3661900|MONDO:MONDO:0014689,MedGen:C4225285,OMIM:616549,Orphanet:447974	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.632	0.293313125239	0.0042	0.00219649	0.0049	0.0014	0.0041	0.0001	0.0029	0.0067	0.0022	0.0033	0.0048835	755	154602	rs149103381	0.0057	0.0057	0.0057	0.0057	0.0065	0.0056	0.0056	0.0064	0.0064	0.0006	0.0044	0.0022	7.557e-05	0.0034	0.0029	0.0065	0.0052	0.0035	0.0045	0.0044	0.0049	0.0040	0.0069	0.0042	0.0041	0.0064	0.0062	0.0015	0	0.0047	0.0020	0.0002	0.0034	0	0.0069	0.0066	0.0033	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.000114	0.50451	D	0.000000	0.877567	0.35685	D	1.935	0.51832	L	-3.13	0.92938	D	-4.62	0.79143	D	0.704	0.70790	0.799	0.94404	D	0.805	0.93400	D	10	0.023308277	0.00606	T	0.293313	0.90637	D	0.632	0.85872	.	.	0.93149503283	0.93079	0.5363631325941575	0.53561	0.403975214382	0.41314	0.521508395672	0.41839	T	0.480227	0.80931	T	-0.0663114	0.41914	T	0.135977	0.79282	D	0.0359432094479308	0.02971	T	0.889211	0.62120	D	0.4668643	0.65098	0.41178858	0.65400	0.46537626	0.65006	0.44655162	0.67766	-6.469	0.50046	T	.	.	0.207	0.46960	B	.;.;.	.;.;.	4.662254	0.74425	26.2	0.9991325294484098	0.98238	0.86569	0.45877	D	AEFDBI	0.621542	0.60619	D	0.343025289852147	0.58371	4.009039	0.245234731715821	0.52377	3.413073	0.799939675151461	0.24168	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.17	2.9	0.32809	0.880000	0.27798	2.803000	0.34863	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.716000	0.34643	0.4518:0.5482:0.0:0.0	11.895	0.51932	905	0.23532	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	13591.1	391	chr22	26027319	.	C	T	13591.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.33;DP=2835;ExcessHet=0.2348;FS=0.52;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.269;SOR=0.773	GT:AD:DP:GQ:PL	0/1:322,284:606:99:6579,0,7326	8	0	2	0
chr22	26292616	26292616	T	C	exonic	SEZ6L	.	nonsynonymous SNV	SEZ6L:NM_001184773:exon2:c.T305C:p.L102P,SEZ6L:NM_001184774:exon2:c.T305C:p.L102P,SEZ6L:NM_001184775:exon2:c.T305C:p.L102P,SEZ6L:NM_001184776:exon2:c.T305C:p.L102P,SEZ6L:NM_001184777:exon2:c.T305C:p.L102P,SEZ6L:NM_021115:exon2:c.T305C:p.L102P	.	427	1093	2	0	0	2	0.000914077	.	.	.	3321349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.024	0.0262413228191	.	.	1.718e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs760566198	1.506e-05	1.505e-05	5.447e-06	2.477e-05	0.0002	9.86e-06	8.42e-06	0.0002	0.0001	0	0	0	2.52e-05	0	0	0	0	0.0002	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.009	0.57480	D	0.215	0.34359	T	0.61	0.49514	P	0.205	0.46637	B	.	.	.	.	0.999999	0.08975	N	0.695	0.17993	N	0.88	0.46028	T	-1.11	0.32590	N	0.163	0.17278	-1.0531	0.13547	T	0.052	0.21999	T	9	0.07964423	0.12837	T	0.026241	0.49161	D	0.024	0.04979	0.147	0.05039	0.082315109003	0.07666	0.3719180183878013	0.37105	0.262336419958	0.28795	0.346765100956	0.17445	T	0.019165	0.37447	T	-0.417015	0.01788	T	-0.57711	0.14803	T	0.0535650141537189	0.06115	T	0.621038	0.23867	T	0.2555223	0.48587	0.16159925	0.37579	0.2555223	0.48587	0.16159925	0.37579	-3.136	0.11820	T	.	.	0.086	0.10739	B	.;.;.;.;.;.	.;.;.;.;.;.	0.794638	0.11650	8.236	0.98714387292128003	0.45098	0.02761	0.07453	N	AEFDGI	0.145605	0.26886	N	-1.01049505470971	0.08385	0.3929746	-1.10539335969296	0.07596	0.370129	0.0208627410430535	0.13298	0.624846	0.39970	0	0.547309	0.14657	0	0.650271	0.49498	0	0.620846	0.47308	0	.	.	3.76	-0.962	0.09806	-1.080000	0.03517	-0.528000	0.08651	0.630000	0.51874	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.1506:0.3872:0.0:0.4621	4.727	0.12326	957	0.09725	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1294.43	34	chr22	26292616	.	T	C	1294.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.835;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-0.903;SOR=0.687	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,106,1171	9	0	1	0
chr22	26310779	26310779	A	G	exonic	SEZ6L	.	nonsynonymous SNV	SEZ6L:NM_001184773:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184774:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184775:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184776:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184777:exon7:c.A1624G:p.I542V,SEZ6L:NM_021115:exon7:c.A1624G:p.I542V	.	424	1094	4	0	0	4	0.00182482	.	.	.	705854	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.092	.	.	0.00698882	0.0052	0	0.0003	0.0001	0	9.002e-05	0.0088	0.0370	0.0044307	685	154602	rs201153704	0.0024	0.0024	0.0014	0.0035	0.0380	0.0023	0.0023	0.0369	0.0365	8.961e-05	8.944e-05	0	5.038e-05	0	0.0014	6.295e-05	0.0025	0.0380	0.0014	0.0014	0.0007	0.0021	0.0421	0.0012	0.0012	0.0373	0.0355	4.813e-05	0	6.535e-05	0	0.0004	0	0	2.941e-05	0.0005	0.0421	0.774	0.04848	T	1.0	0.01155	T	0.007	0.32352	B	0.021	0.30390	B	0.000024	0.55875	D	0.000000	0.999958	0.52396	D	0.91	0.23283	L	1.7	0.26885	T	-0.26	0.12472	N	0.314	0.35620	-1.0936	0.04959	T	0.033	0.14029	T	10	0.0046571195	0.00097	T	.	.	.	0.092	0.26621	.	.	0.151262610727	0.14761	0.3172950724787446	0.31642	0.530585399254	0.50596	0.478166282177	0.35804	T	0.002857	0.28885	T	-0.534999	0.00359	T	-0.512697	0.21039	T	0.0226508922278272	0.00983	T	0.754725	0.37732	T	0.04657927	0.07821	0.070292026	0.14916	0.04657927	0.07820	0.070292026	0.14915	-4.131	0.27513	T	.	.	0.097	0.20780	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.783543	0.22673	15.72	0.30382040753451883	0.01659	0.88814	0.48925	D	AEFDGBI	0.576422	0.57842	D	-0.512700816274117	0.21669	1.151643	-0.337123294966255	0.26910	1.48965	0.921292655432764	0.26666	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	2.958000	0.48838	6.936000	0.56975	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.554000	0.30269	1.0:0.0:0.0:0.0	14.281	0.65764	928	0.17405	.;CUB domain|CUB domain|CUB domain|CUB domain;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.05	2989.43	35	chr22	26310779	.	A	G	2989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.632;DP=551;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.48;SOR=0.847	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1085	9	0	1	0
chr22	26472896	26472896	C	T	exonic	HPS4	.	nonsynonymous SNV	HPS4:NM_152841:exon3:c.G305A:p.R102Q,HPS4:NM_001349896:exon5:c.G320A:p.R107Q,HPS4:NM_001349899:exon5:c.G320A:p.R107Q,HPS4:NM_001349900:exon5:c.G320A:p.R107Q,HPS4:NM_001349901:exon5:c.G320A:p.R107Q,HPS4:NM_001349902:exon5:c.G320A:p.R107Q,HPS4:NM_001349903:exon5:c.G320A:p.R107Q,HPS4:NM_001349904:exon5:c.G320A:p.R107Q,HPS4:NM_001349905:exon5:c.G320A:p.R107Q,HPS4:NM_022081:exon5:c.G320A:p.R107Q,HPS4:NM_001349898:exon6:c.G320A:p.R107Q	Hermansky-Pudlak syndrome 4	0	225	1	0	0	1	0.00221729	.	.	.	1496551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.030594940404	.	.	9.073e-05	0.0005	0	0	0	1.5e-05	0	0.0003	7.12e-05	11	154602	rs138885334	2.941e-05	2.941e-05	2.722e-05	3.163e-05	0.0003	2.216e-05	1.97e-05	0.0002	0.0002	0.0003	0	3.826e-05	0	0	0	1.799e-06	0	0.0003	7.879e-05	7.874e-05	7.708e-05	8.058e-05	0.0004	4.493e-05	3.51e-05	0.0001	8.431e-05	0.0002	0	0	0	0.0002	0	0	0	0	0.0004	0.804	0.03244	T	1.0	0.01155	T	0.015	0.17086	B	0.005	0.11217	B	0.340632	0.13969	N	0.713260	1	0.08975	N	-0.63	0.02141	N	-2.5	0.89219	D	0.06	0.06253	N	0.187	0.20395	-0.8001	0.55139	T	0.290	0.66192	T	10	0.025896043	0.00770	T	0.030595	0.52874	D	0.222	0.51872	.	.	0.413113201963	0.40925	0.13032444309316935	0.12957	0.0497487252383	0.05457	0.193119958043	0.00285	T	0.112777	0.42931	T	-0.251769	0.13882	T	-0.293449	0.45413	T	0.00782777089625597	0.00092	T	0.823018	0.53499	T	0.025390426	0.01472	0.04204029	0.04915	0.025390426	0.01472	0.04204029	0.04914	-6.667	0.51561	T	.	.	0.063	0.04041	B	.;.;.;.	.;.;.;.	1.784317	0.22686	15.72	0.50039488949088673	0.04314	0.03972	0.09383	N	AEFGBI	0.026986	0.02126	N	-1.15262201165808	0.05737	0.2623213	-1.01437155200594	0.09468	0.4712618	0.999909670550041	0.45458	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.3	-0.891	0.10038	1.115000	0.30823	0.054000	0.14040	-0.773000	0.03420	0.830000	0.30133	0.066000	0.22130	0.922000	0.45779	0.0:0.2587:0.0:0.7413	11.425	0.49245	975	0.05339	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1111.43	34	chr22	26472896	.	C	T	1111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.8;DP=408;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.369;SOR=0.733	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr22	27221505	27221505	G	A	exonic	LINC01638	.	stopgain	LINC01638:NM_001350812:exon3:c.C325T:p.R109X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0039189	102	26028	rs373432568	0	0.0004	0	0	.	0	0	.	.	0	.	0	.	0	0	0	0	.	0.0029	0.0029	0.0032	0.0026	0.0050	0.0027	0.0026	0.0046	0.0044	0.0010	0	0.0012	0.0037	0	0.0009	0	0.0050	0.0019	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	65.31	5	chr22	27221505	.	G	A	65.31	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.036;DP=36;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.842;SOR=1.179	GT:AD:DP:GQ:PL	0/0:5,0:5:15:0,15,133	8	0	1	1
chr22	27798945	27798945	-	TGCTGC	exonic	MN1	.	nonframeshift insertion	MN1:NM_002430:exon1:c.1598_1599insGCAGCA:p.Q550_R551insQQ	Meningioma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2352190	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0.0021	0.0071	0.0015	0	0.0056	0	0.0004	0.0002689	7	26028	rs572936881	0.0048	0.0049	0.0050	0.0047	0.0056	0.0047	0.0047	0.0054	0.0054	0.0019	0.0037	0.0045	0.0008	0.0027	0.0016	0.0056	0.0045	0.0005	0.0039	0.0039	0.0042	0.0036	0.0058	0.0036	0.0035	0.0053	0.0051	0.0018	0.0110	0.0033	0.0047	0.0014	0.0018	0.0034	0.0058	0.0059	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4129.77	42	chr22	27798945	.	T	TTGCTGC	4129.77	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.514;DP=463;ExcessHet=1.5895;FS=0.556;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=0.752;SOR=0.645	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	9	0	1	0
chr22	27799019	27799019	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G1525A:p.G509R	Meningioma, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.450389650239	.	.	1.08e-05	0	0	0	0	1.944e-05	0	0	6.5e-06	1	154602	rs750223477	1.371e-06	1.368e-06	1.363e-06	1.378e-06	1.163e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	0	1.163e-05	6.579e-06	6.57e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.7	0.43825	L	0.82	0.48142	T	-5.24	0.83967	D	0.597	0.61596	-0.7123	0.59839	T	0.202	0.55822	T	10	0.7261462	0.73986	D	0.45039	0.94331	D	0.350	0.67142	0.163	0.06730	0.830204933196	0.82859	0.5631363646666874	0.56240	.	.	0.878211259842	0.93718	D	0.510078	0.82662	D	0.162359	0.70420	D	-0.0045596	0.70039	D	0.991491615772247	0.81797	D	0.777822	0.41150	T	0.8752438	0.89280	0.79458374	0.87931	0.8752438	0.89281	0.79458374	0.87931	-3.146	0.11832	T	.	.	0.911	0.83490	P	.	.	4.501093	0.70397	25.5	0.99884114199925322	0.95970	0.95884	0.66568	D	AEFDBCI	0.744043	0.68715	D	0.487671595248547	0.66368	4.941222	0.496996680669056	0.67789	5.131485	0.999999999999863	0.74766	0.582742	0.33608	0	0.547309	0.14657	0	0.606884	0.38211	0	0.620976	0.48614	0	.	.	4.78	4.78	0.60666	4.346000	0.59146	7.465000	0.59093	0.442000	0.21104	0.933000	0.32380	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	16.417	0.83582	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	650.43	42	chr22	27799019	.	C	T	650.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=408;ExcessHet=0;FS=0.972;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.787;SOR=0.682	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1342	9	0	1	0
chr22	27800488	27800488	C	T	exonic	MN1	.	nonsynonymous SNV	MN1:NM_002430:exon1:c.G56A:p.G19D	Meningioma, Autosomal dominant	7	1505	9	1	0	11	0.00364118	.	.	.	2822098	not_provided|MN1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.201	0.120888495442	0.0011	0.000599042	0.0012	0.0003	0.0011	0	0	0.0017	0	0.0007	0.0013389	207	154602	rs200030766	0.0017	0.0017	0.0017	0.0017	0.0076	0.0016	0.0016	0.0058	0.0052	0.0006	0.0011	0.0001	0	9.362e-05	0.0076	0.0019	0.0015	0.0009	0.0010	0.0010	0.0012	0.0008	0.0018	0.0009	0.0008	0.0015	0.0014	0.0002	0	0.0008	0	0	0	0.0068	0.0018	0.0019	0.0008	0.025	0.47320	D	0.048	0.48594	D	0.98	0.59353	D	0.814	0.58796	P	0.000820	0.41658	D	0.162027	0.810772	0.34638	D	0.55	0.14455	N	-0.23	0.66652	T	-3.21	0.64826	D	0.421	0.46086	-0.3595	0.73278	T	0.264	0.63555	T	10	0.053245902	0.05485	T	0.120888	0.80153	D	0.201	0.48592	.	.	0.913458879596	0.91259	0.20549739420354574	0.20466	.	.	0.726483404636	0.70992	T	0.357939	0.72457	T	-0.318439	0.07026	T	-0.237456	0.51047	T	0.04247010871768	0.04141	T	0.820918	0.48005	T	0.3958386	0.60443	0.38204172	0.63200	0.3958386	0.60443	0.38204172	0.63200	-4.761	0.34133	T	.	.	0.408	0.60003	A	.	.	4.314686	0.65983	24.9	0.99686653108324652	0.79641	0.97344	0.74157	D	AEFDGBHCI	0.533522	0.55294	D	0.393937005260213	0.61094	4.305913	0.429794301250253	0.63429	4.576503	0.999999999986842	0.74766	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.618803	0.45993	0	.	.	4.74	4.74	0.59717	3.651000	0.54172	2.601000	0.33522	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.8402:0.1598:0.0	13.349	0.60031	981	0.03995	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.006793	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	932.43	35	chr22	27800488	.	C	T	932.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=411;ExcessHet=0;FS=1.867;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.77;SOR=0.484	GT:AD:DP:GQ:PL	0/0:46,0:46:99:0,102,1530	9	0	1	0
chr22	29049788	29049788	G	A	exonic	ZNRF3	.	nonsynonymous SNV	ZNRF3:NM_001206998:exon8:c.G1607A:p.R536H,ZNRF3:NM_032173:exon8:c.G1307A:p.R436H	.	403	1114	4	1	0	6	0.00268577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.237002407516	.	0.00119808	0.0002	0.0001	0	0.0001	0	3.332e-05	0	0.0015	0.0002458	38	154602	rs535336653	0.0001	0.0001	7.937e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	3e-05	0	0	5.059e-05	0	0.0003	1.356e-05	0.0003	0.0017	8.534e-05	8.53e-05	8.993e-05	8.055e-05	0.0019	4.953e-05	3.959e-05	0.0010	0.0007	4.81e-05	0	0	0	0	0	0	2.941e-05	0	0.0019	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.094804	1	0.81001	D	2.71	0.79292	M	-1.29	0.79475	T	-3.16	0.64246	D	0.756	0.75466	0.390	0.88949	D	0.662	0.88280	D	10	0.04617992	0.03778	T	0.237002	0.88524	D	0.527	0.80007	.	.	0.590544468772	0.58731	0.5038077736553115	0.50302	1.3380251993	0.83785	0.796861767769	0.81485	T	0.168746	0.51587	T	-0.0309096	0.47284	T	0.152745	0.80358	D	0.200743988799566	0.20456	T	0.929607	0.73996	D	0.605956	0.73011	0.46000928	0.68634	0.605956	0.73012	0.46000928	0.68635	-3.575	0.23038	T	.	.	0.077	0.17016	B	.;.;.	.;.;.	5.063782	0.84412	28.3	0.99948547792593212	0.99923	0.94399	0.61041	D	AEFDBHCI	0.834732	0.75274	D	0.784287673539401	0.85112	8.480324	0.75716432449942	0.86689	8.971154	0.999999999999944	0.74766	0.706548	0.73137	0	0.446627	0.06534	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.53	5.53	0.82530	7.550000	0.81121	9.877000	0.82171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	18.456	0.90669	522	0.74218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1014.43	34	chr22	29049788	.	G	A	1014.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.38;DP=393;ExcessHet=0;FS=0.833;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.991;SOR=0.799	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr22	29359902	29359902	C	G	exonic	AP1B1	.	nonsynonymous SNV	AP1B1:NM_001378564:exon3:c.G30C:p.K10N,AP1B1:NM_001378565:exon3:c.G30C:p.K10N,AP1B1:NM_001127:exon4:c.G201C:p.K67N,AP1B1:NM_001166019:exon4:c.G201C:p.K67N,AP1B1:NM_001378562:exon4:c.G201C:p.K67N,AP1B1:NM_001378563:exon4:c.G201C:p.K67N,AP1B1:NM_001378566:exon4:c.G201C:p.K67N,AP1B1:NM_145730:exon4:c.G201C:p.K67N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0646385240552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.36	0.34452	T	-4.73	0.81514	D	0.896	0.89800	-0.1729	0.78357	T	0.342	0.70794	T	10	0.9235403	0.91705	D	0.064639	0.69339	D	0.456	0.75483	0.85	0.95202	0.75375576864	0.75152	0.900457964013698	0.90017	1.72199341639	0.90600	0.91699886322	0.98086	D	.	.	.	0.107895	0.65133	D	-0.0827932	0.64699	T	0.998911261558533	0.95567	D	0.873813	0.58316	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	0.99585	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.819043	0.55127	23.6	0.99779609979252026	0.86693	0.91995	0.54713	D	AEFGBHCIJ	0.613462	0.60115	D	0.621287581978768	0.74523	6.147158	0.44672416156738	0.64506	4.707457	0.989341622411072	0.31795	0.722319	0.85440	0	0.702456	0.74545	0	0.779548	0.98927	0	0.735409	0.98432	0	.	.	5.09	1.82	0.24209	1.453000	0.34778	0.013000	0.13471	-0.176000	0.10722	1.000000	0.71638	0.477000	0.25082	0.620000	0.31896	0.0:0.7813:0.0:0.2187	10.780	0.45572	528	0.73785	.;.;.;.;.;.;Clathrin/coatomer adaptor, adaptin-like, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1845.43	39	chr22	29359902	.	C	G	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.266;DP=549;ExcessHet=0;FS=2.503;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.46;ReadPosRankSum=0.119;SOR=0.901	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr22	29480863	29480863	G	T	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G601T:p.A201S	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3064934	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.897769238069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200689019	6.415e-06	7.525e-06	1.565e-06	1.151e-05	0.0001	2.76e-06	1.99e-06	6.795e-05	4.954e-05	0	0	0	0	0	0	0	0	0.0001	6.577e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.163	0.23450	T	0.019	0.59159	D	.	.	.	.	.	.	0.002125	0.37183	N	0.000000	0.999189	0.46274	D	.	.	.	-2.44	0.88767	D	-1.81	0.42575	N	0.384	0.42541	0.478	0.90230	D	0.735	0.90930	D	10	0.683918	0.71445	D	0.897769	0.99229	D	0.492	0.77847	0.487	0.57098	0.906718020243	0.90578	0.0794037847154352	0.07875	1.00132167106	0.74418	0.883590042591	0.94440	D	.	.	.	0.0533033	0.58766	T	-0.16121	0.58243	T	0.90866756439209	0.56332	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31733	B	.	.	2.814082	0.37057	20.4	0.98617029883909002	0.43718	0.99305	0.94239	D	AEFBHCIJ	0.805684	0.73020	D	0.388637900373202	0.60806	4.273699	0.302348734661275	0.55676	3.730633	0.999999999999999	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.08	4.08	0.46880	6.065000	0.70812	11.239000	0.90365	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:1.0:0.0	13.896	0.63273	677	0.60274	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	537.43	35	chr22	29480863	.	G	T	537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.405;DP=353;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=0.405;SOR=0.585	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,927	9	0	1	0
chr22	29517289	29517289	C	T	exonic	THOC5	.	nonsynonymous SNV	THOC5:NM_001002879:exon16:c.G1567A:p.V523M,THOC5:NM_003678:exon16:c.G1567A:p.V523M,THOC5:NM_001002877:exon17:c.G1567A:p.V523M,THOC5:NM_001002878:exon17:c.G1567A:p.V523M	.	424	1093	4	1	0	6	0.00273723	.	.	.	717394	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0048	0.00199681	0.0079	0.0003	0.0010	0.0002	0.0497	0.0081	0.0144	0.0036	0.0068757	1063	154602	rs35832657	0.0057	0.0057	0.0055	0.0059	0.0047	0.0056	0.0056	0.0046	0.0046	0.0005	0.0010	0.0005	5.038e-05	0.0468	0.0014	0.0047	0.0042	0.0033	0.0076	0.0076	0.0060	0.0092	0.0078	0.0072	0.0071	0.0073	0.0070	0.0006	0	0.0014	0.0006	0	0.0524	0.0068	0.0078	0.0033	0.0029	0.149	0.24758	T	0.134	0.34241	T	0.511	0.37337	P	0.19	0.36341	B	0.017798	0.27636	N	0.377606	0.981909	0.39830	D	1.5	0.37844	L	1.96	0.22270	T	0.02	0.06739	N	0.095	0.07673	-1.0865	0.06138	T	0.027	0.11485	T	10	0.003942013	0.00076	T	.	.	.	0.019	0.03383	.	.	0.227260227426	0.22338	0.32356302766989165	0.32269	0.38442944275	0.39743	0.4578769207	0.33019	T	0.047751	0.27815	T	-0.53238	0.00372	T	-0.524529	0.19837	T	0.00957599986548387	0.00124	T	0.793521	0.43550	T	0.04675316	0.07878	0.040385965	0.04352	0.04675316	0.07877	0.040385965	0.04352	-5.928	0.45673	T	.	.	0.073	0.04477	B	.;.;.;.	.;.;.;.	2.641559	0.34369	19.61	0.98948394188266864	0.49093	0.54726	0.29686	D	AEFGBCI	0.140236	0.26208	N	-0.0681999825516591	0.38794	2.277601	0.00620692629987976	0.40002	2.380486	0.0463850564062381	0.14688	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	3.22	0.36041	1.137000	0.31091	2.734000	0.34411	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.734000	0.35233	0.0:0.6966:0.0:0.3034	8.073	0.29863	718	0.55760	.;.;.;.	.	.	.	.	rs35832657	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1651.43	33	chr22	29517289	.	C	T	1651.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=489;ExcessHet=0;FS=2.944;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=-0.265;SOR=0.957	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	0	1	0
chr22	30264407	30264407	C	T	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.G172A:p.G58R,OSM:NM_020530:exon3:c.G235A:p.G79R	.	425	1095	2	0	0	2	0.000912409	.	.	.	2379467	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.124	0.0170308012819	7.8e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001164	18	154602	rs201309766	6.979e-05	7.046e-05	6.399e-05	7.564e-05	0.0002	5.847e-05	5.458e-05	7.31e-06	5.72e-06	2.987e-05	0	0.0027	0	1.875e-05	0.0002	1.259e-05	0.0002	2.319e-05	0.0001	0.0001	0.0001	9.414e-05	0.0003	6.512e-05	5.323e-05	8.875e-05	5.285e-05	2.413e-05	0	0.0003	0.0023	0	0	0	1.47e-05	0.0010	0	0.849	0.02760	T	0.107	0.37730	T	0.974	0.57829	D	0.432	0.45448	B	0.200627	0.16609	N	0.447704	1	0.08975	N	0.975	0.24501	L	0.88	0.46028	T	-3.05	0.62976	D	0.115	0.28849	-1.0583	0.12184	T	0.069	0.28346	T	10	0.012436718	0.00267	T	0.017031	0.38558	T	0.124	0.34239	0.608	0.74063	0.51098835382	0.50741	0.3514713097159909	0.35061	0.616651085367	0.56118	0.346108019352	0.17347	T	0.792151	0.94611	D	-0.264782	0.12344	T	-0.43659	0.29190	T	0.135352280672931	0.15868	T	0.684832	0.29327	T	0.1265225	0.29632	0.10349002	0.24831	0.1265225	0.29632	0.10349002	0.24830	-3.892	0.22182	T	.	.	0.271	0.50527	B	.;.	.;.	1.102738	0.14872	11.40	0.77363440788990545	0.11845	0.06112	0.12089	N	AEFBCI	0.074140	0.14852	N	-0.578131697500554	0.19610	1.027672	-0.739898980609514	0.15971	0.8426153	0.99972530039703	0.42220	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.73	1.56	0.22423	-0.144000	0.10263	0.268000	0.16624	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.7583:0.0:0.2417	6.134	0.19440	338	0.86082	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	376.43	38	chr22	30264407	.	C	T	376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.82;DP=344;ExcessHet=0;FS=2.717;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=-0.418;SOR=1.162	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1110	9	0	1	0
chr22	30264461	30264461	G	A	exonic	OSM	.	nonsynonymous SNV	OSM:NM_001319108:exon3:c.C118T:p.R40C,OSM:NM_020530:exon3:c.C181T:p.R61C	.	420	1099	2	1	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.0147840155308	.	0.000599042	0.0005	0	0	0	0	1.645e-05	0	0.0045	0.0004334	67	154602	rs200818557	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	3.013e-05	2.266e-05	0	5.083e-05	0	0	1.998e-05	0.0004	0.0032	8.534e-05	8.529e-05	5.138e-05	0.0001	0.0023	4.953e-05	3.959e-05	0.0013	0.0010	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0023	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.895	0.63489	P	0.023233	0.01588	N	2.507170	0.999999	0.08975	N	0.805	0.20218	L	0.66	0.52416	T	-5.58	0.86450	D	0.218	0.31253	-0.9647	0.38270	T	0.091	0.34901	T	10	0.014133632	0.00298	T	0.014784	0.35118	T	0.189	0.46613	0.753	0.88319	0.692355517538	0.68971	0.22521156646811497	0.22436	0.759215101539	0.64160	0.242099702358	0.02982	T	0.808837	0.95201	D	-0.380118	0.03111	T	-0.32058	0.42512	T	0.159890631516883	0.17864	T	0.830517	0.49623	T	0.3187266	0.54532	0.25054592	0.50647	0.3187266	0.54532	0.25054592	0.50646	-5.824	0.44783	T	.	.	0.252	0.48695	B	.;.	.;.	3.077179	0.41385	21.3	0.99804786413155533	0.88906	0.08837	0.14706	N	AEFDBCI	0.112233	0.22191	N	-0.557073973783821	0.20262	1.066874	-0.697375101596618	0.17025	0.9034543	0.999579913021674	0.40495	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.73	-0.0743	0.13065	0.316000	0.19217	2.765000	0.34631	0.676000	0.76740	0.000000	0.06391	0.146000	0.23136	0.332000	0.25247	0.0:0.0:0.3786:0.6214	9.039	0.35467	338	0.86082	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	452.43	38	chr22	30264461	.	G	A	452.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1;DP=334;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.168;SOR=0.61	GT:AD:DP:GQ:PL	0/0:33,0:33:90:0,90,1350	9	0	1	0
chr22	30341838	30341838	G	A	exonic	SF3A1	.	nonsynonymous SNV	SF3A1:NM_005877:exon7:c.C925T:p.L309F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.0366141577596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.011	0.92824	D	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.8	0.81625	M	0.94	0.43672	T	-3.63	0.69714	D	0.746	0.74553	-0.1632	0.78592	T	0.401	0.75209	T	10	0.7940153	0.78908	D	0.036614	0.57104	D	0.577	0.82912	0.435	0.48664	0.666889075856	0.66407	0.6995076552216609	0.69891	2.04020034352	0.94242	0.875791788101	0.93386	D	0.675557	0.90417	D	0.234942	0.77185	D	0.0997011	0.76888	D	0.96374773979187	0.66749	D	0.912709	0.68911	D	0.5394313	0.69364	0.55511105	0.74269	0.5394313	0.69365	0.55511105	0.74270	-11.959	0.84651	D	.	.	0.969	0.95337	P	.;.	.;.	5.016676	0.83347	28.0	0.9979600140967686	0.88106	0.97974	0.78556	D	AEFDBCI	0.935665	0.93086	D	1.03831942631861	0.96805	15.16961	0.997827093304162	0.98585	18.70847	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.97	5.97	0.96935	9.953000	0.98977	9.980000	0.82917	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.804000	0.37906	0.0:0.0:1.0:0.0	20.428	0.99077	306	0.87689	Splicing factor 3A subunit 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	53.43	33	chr22	30341838	.	G	A	53.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.742;DP=601;ExcessHet=0;FS=99.289;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=-0.334;SOR=7.328	GT:AD:DP:GQ:PL	0/0:90,0:90:71:0,71,2002	9	0	1	0
chr22	30370855	30370855	C	T	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon5:c.C950T:p.A317V,CCDC157:NM_001318334:exon5:c.C950T:p.A317V	.	370	1148	3	1	0	5	0.00217297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.0193088133658	.	0.000199681	2.662e-05	0.0001	0	0.0001	0	1.618e-05	0	0	2.59e-05	4	154602	rs546033949	1.164e-05	1.163e-05	8.177e-06	1.514e-05	0.0004	7.09e-06	5.8e-06	6.746e-05	3.274e-05	0	0	0	0	0	0.0004	3.597e-06	4.973e-05	9.281e-05	3.282e-05	3.281e-05	3.853e-05	2.685e-05	0.0004	1.26e-05	7.97e-06	7.29e-05	3.029e-05	4.811e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.279	0.15561	T	0.222	0.25748	T	0.239	0.30839	B	0.038	0.23361	B	0.167215	0.17482	N	0.576604	1	0.08975	N	2.48	0.72069	M	1.09	0.39223	T	-1.02	0.26843	N	0.121	0.11197	-1.0755	0.08246	T	0.060	0.25273	T	10	0.02668956	0.00829	T	0.019309	0.41638	T	0.116	0.32463	.	.	0.124217242631	0.12060	0.1175032244188644	0.11678	0.150935704758	0.17036	0.30754750967	0.11537	T	0.002283	0.01681	T	-0.291043	0.09531	T	-0.472449	0.25253	T	0.0586722493171692	0.06957	T	0.762324	0.38756	T	0.033732396	0.03651	0.046223067	0.06395	0.033732396	0.03650	0.046223067	0.06395	-6.068	0.46844	T	.	.	0.100	0.17317	B	.;.	.;.	2.280214	0.29155	18.03	0.99484468000770643	0.67069	0.11664	0.16782	N	AEFDBCI	0.076144	0.15311	N	-0.524206453479251	0.21298	1.129329	-0.486766421460147	0.22517	1.223421	0.998550781949711	0.37186	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	5.93	1.14	0.19817	0.093000	0.14925	1.239000	0.25094	0.599000	0.40250	0.000000	0.06391	0.571000	0.25572	0.734000	0.35233	0.3981:0.2768:0.1048:0.2203	1.182	0.01734	282	0.88846	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.05	1110.43	33	chr22	30370855	.	C	T	1110.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.627;DP=389;ExcessHet=0;FS=1.811;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.558;SOR=0.467	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr22	30374007	30374007	-	GGGAGCTGG	exonic	CCDC157	.	nonframeshift insertion	CCDC157:NM_001017437:exon9:c.1588_1589insGGGAGCTGG:p.L532_E533insGEL,CCDC157:NM_001318334:exon9:c.1588_1589insGGGAGCTGG:p.L532_E533insGEL	.	412	1108	1	0	1	2	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	8.998e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.998e-07	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	815.39	34	chr22	30374007	.	C	CGGGAGCTGG	815.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.867;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.68;ReadPosRankSum=0.75;SOR=0.651	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1354	9	0	1	0
chr22	30376488	30376511	CAGCCCTGCACATCCCCACCTCGG	-	exonic	CCDC157	.	nonframeshift deletion	CCDC157:NM_001017437:exon12:c.2002_2025del:p.P690_P697del,CCDC157:NM_001318334:exon12:c.2002_2025del:p.P690_P697del	.	0	224	2	0	0	2	0.00444444	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00858626	0.0013	0.0029	0.0003	0.0071	0.0003	0.0002	0	0.0027	0.0016905	44	26028	rs566846265	0.0015	0.0015	0.0013	0.0018	0.0180	0.0015	0.0015	0.0169	0.0165	0.0049	0.0008	0.0008	0.0180	0.0007	0.0009	0.0003	0.0025	0.0085	0.0040	0.0043	0.0038	0.0041	0.0154	0.0037	0.0036	0.0127	0.0117	0.0095	0	0.0015	0.0012	0.0154	0.0008	0	0.0009	0.0038	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	535.39	43	chr22	30376487	.	CCAGCCCTGCACATCCCCACCTCGG	C	535.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.089;DP=469;ExcessHet=0;FS=1.186;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.017;SOR=0.902	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1112	9	0	1	0
chr22	31125869	31125869	G	A	exonic	INPP5J	.	nonsynonymous SNV	INPP5J:NM_001284285:exon2:c.G1130A:p.S377N,INPP5J:NM_001284286:exon3:c.G929A:p.S310N,INPP5J:NM_001284288:exon3:c.G29A:p.S10N,INPP5J:NM_001284289:exon4:c.G29A:p.S10N	.	416	1100	5	1	0	7	0.00317173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	.	0.00459265	0.0034	0	0.0004	0	0.0002	0	0	0.0245	0.0028848	446	154602	rs377079595	0.0016	0.0016	0.0008	0.0023	0.0253	0.0015	0.0015	0.0245	0.0241	5.987e-05	0	0	2.523e-05	0	0.0005	6.304e-06	0.0015	0.0253	0.0008	0.0008	0.0004	0.0013	0.0251	0.0007	0.0006	0.0215	0.0201	2.408e-05	0	0	0	0	0	0	0	0	0.0251	0.071	0.35165	T	0.433	0.54541	T	0.089	0.25085	B	0.023	0.19966	B	0.189149	0.16893	N	0.570205	1	0.08975	N	0.55	0.14455	N	-4.42	0.98594	D	-0.36	0.17624	N	0.026	0.03175	0.533	0.91004	D	0.867	0.95586	D	9	0.00186342	0.00025	T	.	.	.	0.210	0.50028	0.196	0.10839	0.705752615724	0.70319	0.23007665260745036	0.22922	.	.	0.327621459961	0.14575	T	0.022098	0.17096	T	-0.411504	0.01943	T	-0.34495	0.39784	T	0.0041052172781681	0.00044	T	0.275872	0.05105	T	0.037090052	0.04688	0.05958177	0.11206	0.037090052	0.04688	0.05958177	0.11206	-4.984	0.36666	T	.	.	0.072	0.04558	B	.;.;.;.	.;.;.;.	0.901266	0.12752	9.271	0.95187413145797173	0.26366	0.06949	0.12975	N	AEFBI	0.087784	0.17799	N	-0.646289283163877	0.17568	0.9051356	-0.659119622214626	0.17986	0.9588734	0.998900227076684	0.37938	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	4.99	3.96	0.45097	0.813000	0.26883	0.653000	0.20435	-0.103000	0.15852	0.002000	0.15269	0.000000	0.08366	0.849000	0.40138	0.0:0.1615:0.6714:0.167	8.936	0.34860	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	898.43	38	chr22	31125869	.	G	A	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.914;DP=410;ExcessHet=0;FS=1.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.445;SOR=0.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:42,0:42:99:.:.:0,102,1530:.	9	0	1	0
chr22	31136716	31136716	A	G	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon6:c.T1283C:p.L428P	.	420	1095	7	0	0	7	0.00318616	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.102795277501	0.0007	0.000199681	0.0008	0	0.0009	0	0	0.0011	0.0022	0.0008	0.0007568	117	154602	rs142563030	0.0008	0.0008	0.0007	0.0008	0.0040	0.0007	0.0007	0.0027	0.0023	5.984e-05	0.0008	0.0105	0	1.873e-05	0.0040	0.0006	0.0013	0.0007	0.0009	0.0009	0.0010	0.0007	0.0019	0.0007	0.0007	0.0014	0.0012	9.621e-05	0	0.0019	0.0098	0	0	0.0034	0.0008	0.0028	0.0008	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.001648	0.38382	N	0.169627	1	0.81001	D	2.695	0.78878	M	1.4	0.33630	T	-2.37	0.52289	N	0.946	0.95374	-0.6777	0.61479	T	0.216	0.57823	T	10	0.043250263	0.03155	T	0.102795	0.77647	D	0.280	0.59740	.	.	0.673645370697	0.67088	0.8436023340581396	0.84321	0.515464313229	0.49457	0.554244875908	0.46455	T	0.147861	0.48615	T	-0.199143	0.20928	T	-0.115179	0.62196	T	0.181187972426414	0.19310	T	0.665433	0.27458	T	0.82684386	0.85684	0.779948	0.87026	0.82684386	0.85686	0.779948	0.87027	-10.495	0.76819	D	.	.	0.318	0.54346	B	.	.	4.623292	0.73436	26.0	0.99874126562707	0.95160	0.97507	0.75198	D	AEFDBI	0.854298	0.77131	D	0.615315093846427	0.74143	6.082795	0.559952795195116	0.72091	5.75577	0.999998253996538	0.74766	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	5.84	5.84	0.93373	4.807000	0.62267	11.162000	0.87682	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.300000	0.24500	1.0:0.0:0.0:0.0	13.600	0.61479	624	0.65661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.003788	0.05	724.43	37	chr22	31136716	.	A	G	724.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.93;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.24;ReadPosRankSum=-1.089;SOR=0.645	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1258	9	0	1	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.15	2119.45	34	chr22	31140088	.	A	T	2119.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.78;DP=516;ExcessHet=0.7463;FS=1.108;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.032;SOR=0.596	GT:AD:DP:GQ:PL	0/1:53,25:78:99:637,0,1384	7	0	3	0
chr22	31712857	31712857	T	C	exonic	PRR14L	.	nonsynonymous SNV	PRR14L:NM_173566:exon4:c.A4982G:p.D1661G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0721082512026	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219810216	2.143e-06	2.052e-06	2.819e-06	1.449e-06	9.494e-05	5.7e-07	1.6e-07	2.515e-05	1.297e-05	9.494e-05	0	0	0	0	0	0	0	0	2.628e-05	2.627e-05	3.854e-05	1.345e-05	9.646e-05	8.14e-06	5.14e-06	3.248e-05	1.914e-05	9.646e-05	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.01	0.65728	D	0.703	0.41913	P	0.342	0.42471	B	0.000143	0.49130	D	0.000000	0.521837	0.31563	N	2.16	0.60381	M	2.69	0.12268	T	-4.49	0.78046	D	0.621	0.63628	-1.0358	0.18606	T	0.054	0.22770	T	9	0.56543154	0.65023	D	0.072108	0.71447	D	0.081	0.23632	0.25	0.18757	0.143184338766	0.13958	0.32299055199621746	0.32212	0.457463786155	0.45379	0.370160698891	0.20855	T	0.064648	0.32488	T	-0.272894	0.11436	T	-0.393101	0.34188	T	0.898087203502655	0.55011	D	0.70353	0.31362	T	0.48812267	0.66391	0.39988604	0.64540	0.48812267	0.66391	0.39988604	0.64540	-3.257	0.13189	T	.	.	0.253	0.48746	B	.	.	3.458289	0.48188	22.6	0.99753862357606127	0.84460	0.82990	0.42148	D	AEFBI	0.113219	0.22348	N	0.097710491064832	0.46355	2.877194	0.0874168666303178	0.43914	2.683415	0.151050272252107	0.17440	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	3.3	0.36912	2.723000	0.46947	3.531000	0.38953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.256000	0.23417	0.0:0.2311:0.0:0.7689	7.995	0.29424	154	0.93967	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1605.43	33	chr22	31712857	.	T	C	1605.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.06;SOR=0.687	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	0	1	0
chr22	35658768	35658768	C	A	exonic	APOL6	.	nonsynonymous SNV	APOL6:NM_030641:exon3:c.C204A:p.D68E	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00235998141077	.	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0009	0.0001552	24	154602	rs553196772	7.867e-05	7.867e-05	6.262e-05	9.488e-05	0.0008	6.666e-05	6.201e-05	0.0006	0.0006	0	0	0	0.0003	1.872e-05	0	3.058e-05	3.311e-05	0.0008	3.284e-05	3.281e-05	0	6.715e-05	0.0004	1.26e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.411e-05	0	0.0004	0.115	0.28520	T	0.13	0.34716	T	0.997	0.70673	D	0.854	0.60866	P	0.000194	0.48115	N	0.132959	1	0.08975	N	1.83	0.48079	L	3.52	0.04905	T	-3.41	0.67129	D	0.154	0.15888	-1.0142	0.25593	T	0.023	0.09923	T	10	0.052827924	0.05378	T	0.00236	0.04590	T	0.133	0.36157	0.713	0.84872	0.496165130923	0.49253	0.440622452961107	0.43979	0.645859863428	0.58019	0.380053311586	0.22265	T	0.197911	0.55473	T	-0.440325	0.01288	T	-0.478077	0.24650	T	0.163656800985336	0.18138	T	0.517048	0.16713	T	0.21972328	0.44511	0.22824171	0.47860	0.21972328	0.44511	0.22824171	0.47859	-5.817	0.44722	T	.	.	0.537	0.66216	A	.	.	1.539961	0.19747	14.42	0.9836373721809859	0.40668	0.08804	0.14678	N	AEFBI	0.084925	0.17214	N	-0.588292178418372	0.19298	1.00897	-0.825862740642293	0.13868	0.7217798	0.988925660688703	0.31670	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.14	-0.686	0.10755	0.042000	0.13834	-1.891000	0.04543	-0.182000	0.10109	0.036000	0.20778	0.000000	0.08366	0.001000	0.02609	0.1592:0.5038:0.1547:0.1823	2.047	0.03346	671	0.60868	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1351.43	35	chr22	35658768	.	C	A	1351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.497;DP=411;ExcessHet=0;FS=9.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=-0.48;SOR=0.221	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1155	9	0	1	0
chr22	35727155	35727155	G	C	exonic	APOL5	.	nonsynonymous SNV	APOL5:NM_030642:exon3:c.G1087C:p.G363R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00462983158996	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	0.991	0.64070	D	0.831	0.59664	P	0.002968	0.00929	N	13.518900	1	0.08975	N	0	0.06538	N	3.49	0.05071	T	-1.46	0.35792	N	0.151	0.15469	-1.0453	0.15738	T	0.019	0.07800	T	10	0.15380505	0.29024	T	0.00463	0.11472	T	0.097	0.27909	0.332	0.31843	0.252162846088	0.24830	0.09838960696724006	0.09769	0.786334357911	0.65532	0.331536322832	0.15166	T	0.003006	0.02402	T	-0.323414	0.06623	T	-0.702338	0.05699	T	0.428490310907364	0.30005	T	0.450755	0.12737	T	0.12324908	0.28944	0.09204823	0.21672	0.12324908	0.28944	0.09204823	0.21672	-3.533	0.16897	T	.	.	0.157	0.34754	B	.	.	1.524235	0.19565	14.33	0.96474023681937215	0.29946	0.02432	0.06860	N	AEFBI	0.031704	0.03443	N	-0.822808184625	0.12728	0.6223153	-1.03817747273771	0.08955	0.442918	0.999756728135617	0.42595	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.613276	0.41899	0	.	.	3.06	-2.08	0.06852	-0.252000	0.08825	-0.258000	0.10450	-0.354000	0.05547	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.4553:0.2135:0.3311:0.0	3.389	0.06858	835	0.38313	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1716.43	36	chr22	35727155	.	G	C	1716.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.626;DP=568;ExcessHet=0;FS=2.338;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.102;SOR=0.765	GT:AD:DP:GQ:PL	0/1:48,75:123:99:1728,0,1055	9	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T,APOL3:NM_014349:exon4:c.G469A:p.A157T,APOL3:NM_145639:exon4:c.G469A:p.A157T,APOL3:NM_145642:exon4:c.G82A:p.A28T,APOL3:NM_030644:exon5:c.G469A:p.A157T,APOL3:NM_145641:exon5:c.G82A:p.A28T	.	420	1018	81	3	0	87	0.0409797	.	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.019134	0.000000	0.013587	0.023392	0.050000	0.043103	0.024390	0.041667	0.05	1422.43	37	chr22	36141727	.	C	T	1422.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.966;DP=938;ExcessHet=0;FS=0.702;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.753;SOR=0.583	GT:AD:DP:GQ:PL	0/0:104,0:104:99:0,120,1800	9	0	1	0
chr22	36227655	36227655	C	A	exonic	APOL2	.	stopgain	APOL2:NM_030882:exon5:c.G763T:p.E255X,APOL2:NM_145637:exon6:c.G763T:p.E255X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638208	0.05852	N	1.186950	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244707	0.78104	D	0.113728	0.77818	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Recessive	.;.;High	4.700427	0.75409	26.3	0.96897571075513667	0.31523	0.01732	0.05474	N	AEFDBHI	0.031705	0.03443	N	-0.314676139406015	0.28589	1.578193	-0.688775489018297	0.17240	0.9158465	0.998919003679291	0.37962	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.82	0.094	0.13789	-0.406000	0.07249	-20.000000	0.00162	-0.381000	0.05390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.1179:0.202:0.4845	0.853	0.01101	615	0.66512	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	483.43	37	chr22	36227655	.	C	A	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.975;DP=693;ExcessHet=0;FS=209.595;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=0.781;SOR=8.155	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1414	9	0	1	0
chr22	36265601	36265601	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G711C:p.R237S,APOL1:NM_001362927:exon5:c.G711C:p.R237S,APOL1:NM_001136540:exon6:c.G765C:p.R255S,APOL1:NM_003661:exon6:c.G765C:p.R255S,APOL1:NM_145343:exon7:c.G813C:p.R271S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000907701874081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.085e-06	0.0006	2.76e-06	1.4e-06	2.728e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.728e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.30375	T	0.283	0.46632	T	0.002	0.09854	B	0.001	0.04355	B	0.000540	0.00634	N	5.050130	1	0.08975	N	0	0.06538	N	3.93	0.03435	T	-0.32	0.12283	N	0.052	0.05287	-0.9365	0.43164	T	0.006	0.02131	T	10	0.08132845	0.13302	T	9.08E-4	0.00866	T	0.011	0.01250	0.408	0.44230	0.185906805712	0.18197	0.18011142860078055	0.17930	0.0660165172608	0.07365	0.244562089443	0.03216	T	0.00853	0.07826	T	-0.342634	0.05208	T	-0.729947	0.04330	T	0.0890489221116852	0.11104	T	0.716728	0.32905	T	0.07998894	0.18304	0.038347237	0.03684	0.07998894	0.18304	0.038347237	0.03684	-1.822	0.02808	T	.	.	0.273	0.50708	B	.;.;.;.;.	.;.;.;.;.	-2.042542	0.00092	0.002	0.34530247570989991	0.02117	0.00520	0.02423	N	AEFDBI	0.218833	0.34379	N	-1.93437648620656	0.00291	0.01250946	-2.04200221281962	0.00249	0.0109851	0.999770420652857	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-2.263000	0.01256	-8.769000	0.00916	-1.311000	0.01235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.2804:0.3507:0.139	1.741	0.02774	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	202.93	164	chr22	36265601	.	G	C	202.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.251;DP=1274;ExcessHet=0.2348;FS=165.798;InbreedingCoeff=-0.1355;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.67;SOR=9.308	GT:AD:DP:GQ:PL	0/1:120,24:151:99:107,0,4411	8	0	2	0
chr22	36265604	36265604	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G714C:p.E238D,APOL1:NM_001362927:exon5:c.G714C:p.E238D,APOL1:NM_001136540:exon6:c.G768C:p.E256D,APOL1:NM_003661:exon6:c.G768C:p.E256D,APOL1:NM_145343:exon7:c.G816C:p.E272D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00111242078578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.19157	T	0.196	0.28860	T	0.992	0.64738	D	0.989	0.78396	D	0.770951	0.06597	N	1.103480	1	0.08975	N	1.665	0.42610	L	3.83	0.03702	T	-1.87	0.43717	N	0.092	0.11483	-1.0243	0.22311	T	0.022	0.09421	T	10	0.27728033	0.45294	T	0.001112	0.01336	T	0.082	0.23913	0.507	0.60232	0.53906709209	0.53559	0.16556427240615473	0.16476	0.360721973955	0.37738	0.259047538042	0.04778	T	0.012596	0.11043	T	-0.333464	0.05853	T	-0.716774	0.04953	T	0.245490476489067	0.22670	T	0.777122	0.41012	T	0.06793174	0.14756	0.04626168	0.06409	0.06793174	0.14756	0.04626168	0.06409	-3.75	0.20954	T	.	.	0.137	0.29779	B	.;.;.;.;.	.;.;.;.;.	0.291250	0.06675	3.178	0.98905130924322504	0.48254	0.01941	0.05908	N	AEFDBI	0.220069	0.34487	N	-0.670268106369882	0.16873	0.8634436	-1.02054216251253	0.09334	0.4637797	0.994276953357058	0.33564	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-0.470000	0.06717	-7.429000	0.01158	-1.187000	0.01379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.341:0.3049:0.2002:0.1539	0.870	0.01134	489	0.76795	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	201.06	161	chr22	36265604	.	G	C	201.06	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.908;DP=1212;ExcessHet=0.2348;FS=243.904;InbreedingCoeff=-0.1651;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=2.75;SOR=8.349	GT:AD:DP:GQ:PL	0/1:121,26:155:99:146,0,3475	7	0	2	1
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	394.14	110	chr22	36316560	.	G	C	394.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.366;DP=800;ExcessHet=0.2348;FS=166.366;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.04;ReadPosRankSum=2.69;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:62,0:62:99:.:.:0,119,1355:.	8	0	2	0
chr22	37690718	37690718	G	A	exonic	NOL12	.	nonsynonymous SNV	NOL12:NM_024313:exon5:c.G403A:p.E135K	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0155113613445	0.0005	0.000798722	0.0015	9.612e-05	0.0006	0	0	0.0003	0.0011	0.0095	0.0012807	198	154602	rs145024039	0.0009	0.0009	0.0006	0.0012	0.0102	0.0008	0.0008	0.0096	0.0094	2.987e-05	0.0011	0.0006	0	0	0.0069	0.0002	0.0011	0.0102	0.0005	0.0005	0.0004	0.0007	0.0068	0.0004	0.0004	0.0050	0.0044	4.811e-05	0	0.0012	0.0003	0	0	0	0.0003	0.0028	0.0068	0.226	0.18562	T	0.177	0.29740	T	0.001	0.07471	B	0.007	0.12992	B	0.034120	0.24812	N	0.473753	0.999662	0.48141	D	0.665	0.16292	N	-1.58	0.81987	D	-2.17	0.49018	N	0.183	0.24010	-0.6489	0.62762	T	0.379	0.73617	T	10	0.008024216	0.00182	T	0.015511	0.36282	T	0.184	0.45763	.	.	0.817218031774	0.81549	0.1844012022333423	0.18359	0.205769546886	0.22999	0.308107256889	0.11621	T	0.136981	0.46967	T	-0.384245	0.02928	T	-0.317469	0.42853	T	0.0128320111089835	0.00219	T	0.756224	0.37950	T	0.032080587	0.03167	0.07723831	0.17185	0.032080587	0.03167	0.07723831	0.17185	-4.832	0.34962	T	.	.	0.065	0.01884	B	.;.	.;.	1.690263	0.21535	15.24	0.97801011383678182	0.36065	0.74321	0.36356	D	AEFDBI	0.099683	0.20061	N	-0.44344244901885	0.23963	1.290566	-0.374349883680045	0.25765	1.418876	0.999968973121682	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	1.82	0.24209	2.056000	0.40981	1.525000	0.27119	0.676000	0.76740	0.995000	0.38783	0.993000	0.31925	0.032000	0.13371	0.1094:0.1536:0.7369:0.0	7.526	0.26824	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.007576	0.05	1419.43	40	chr22	37690718	.	G	A	1419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.89;DP=437;ExcessHet=0;FS=5.555;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.1;SOR=1.103	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1246	9	0	1	0
chr22	37723688	37723688	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C1132T:p.P378S	Deafness, autosomal recessive 28, Autosomal recessive	0	1514	7	1	0	9	0.00296345	.	.	.	1213503	Autosomal_recessive_nonsyndromic_hearing_loss_28|not_provided	MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00180592756995	0.0008	0.000798722	0.0010	0.0002	0.0005	0	0.0005	0.0012	0.0011	0.0021	0.0008667	134	154602	rs183024099	0.0007	0.0007	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	5.974e-05	0.0003	7.652e-05	0	0.0004	0.0035	0.0006	0.0009	0.0023	0.0006	0.0006	0.0005	0.0007	0.0023	0.0005	0.0004	0.0013	0.0010	0.0001	0	0.0003	0	0	0.0005	0	0.0009	0.0014	0.0023	0.061	0.37118	T	0.817	0.03863	T	0.045	0.21781	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.13	0.28900	L	2.03	0.20959	T	-0.59	0.17624	N	0.076	0.05037	-1.0034	0.28933	T	0.038	0.16548	T	9	0.0077746212	0.00177	T	0.001806	0.03089	T	0.016	0.02506	.	.	0.223847106136	0.22009	0.04789874257510578	0.04732	0.117284125893	0.13220	0.193930521607	0.00302	T	0.013988	0.11991	T	-0.573058	0.00212	T	-0.602102	0.12634	T	0.000805022622784938	0.00007	T	0.435556	0.11926	T	0.028344397	0.02157	0.039629165	0.04098	0.029824128	0.02540	0.047284674	0.06776	-4.377	0.29244	T	.	.	0.076	0.06069	B	.;.	.;.	0.062877	0.04731	1.363	0.6690620911893076	0.08196	0.06183	0.12167	N	AEFBCI	0.021011	0.00889	N	-1.01697570965288	0.08251	0.3862314	-1.13209244568928	0.07094	0.343778	0.0187579447496675	0.13093	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	2.35	-0.167	0.12693	0.058000	0.14178	-0.203000	0.10926	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6263:0.2253:0.1484	4.692	0.12168	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	2880.43	109	chr22	37723688	.	C	T	2880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.095;DP=993;ExcessHet=0;FS=0.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.499;SOR=0.747	GT:AD:DP:GQ:PL	0/0:105,0:105:99:0,120,1800	9	0	1	0
chr22	37726466	37726466	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C3910A:p.R1304S	Deafness, autosomal recessive 28, Autosomal recessive	12	1503	6	0	1	7	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0630658994067	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550274094	2.143e-06	5.472e-06	0	4.334e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.719e-05	1.241e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.288	0.21144	T	1.0	0.90584	D	0.967	0.71530	D	.	.	.	.	0.667469	0.33110	D	1.04	0.26193	L	0.28	0.59037	T	-2.85	0.60029	D	0.652	0.66272	-0.7008	0.60400	T	0.252	0.62223	T	9	0.53869605	0.63595	D	0.063066	0.68850	D	0.248	0.55615	.	.	0.739818014902	0.73748	0.30916848207918823	0.30829	0.386630532738	0.39955	0.733280956745	0.71986	T	0.231116	0.59735	T	-0.125418	0.32240	T	-0.202596	0.54400	T	0.66301017999649	0.39028	D	0.738026	0.35555	T	0.506153	0.67455	0.45054185	0.68025	0.506153	0.67456	0.45054185	0.68025	-6.34	0.49039	T	.	.	0.891	0.82188	P	.;.	.;.	3.964497	0.58165	23.9	0.99811766037908878	0.89531	0.84548	0.43631	D	AEFDBI	0.436405	0.49664	N	0.411215872464132	0.62037	4.413393	0.426874021853534	0.63244	4.554486	0.999992995891553	0.74766	0.634777	0.41761	0	0.61073	0.52368	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.322000	0.43474	3.929000	0.40522	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	16.290	0.82575	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001021	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	285.43	24	chr22	37726466	.	C	A	285.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.977;DP=208;ExcessHet=0;FS=1.485;InbreedingCoeff=-0.0531;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.306;SOR=0.4	GT:AD:DP:GQ:PL	0/0:19,0:19:51:0,51,765	9	0	1	0
chr22	37768157	37768157	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_007032:exon9:c.G1417A:p.G473S,TRIOBP:NM_001039141:exon19:c.G6556A:p.G2186S	Deafness, autosomal recessive 28, Autosomal recessive	2	1510	10	0	0	10	0.00330033	.	.	.	231218	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00889148132108	0.0006	0.000599042	0.0006	0.0008	0.0005	0	0	0.0006	0	0.0008	0.0004786	74	154602	rs191901426	0.0004	0.0004	0.0004	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	0.0004	0.0002	0.0003	2.521e-05	0	0.0061	0.0004	0.0008	0.0010	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0005	0.0003	0	0	0.0068	0.0005	0	0.0010	0.315	0.13789	T	0.422	0.14034	T	0.024	0.19075	B	0.005	0.11217	B	.	.	.	.	0.99921	0.23853	N	-0.14	0.04484	N	2.24	0.20664	T	-0.84	0.31375	N	0.16	0.16725	-0.9859	0.33615	T	0.016	0.06473	T	9	0.008279085	0.00188	T	0.008891	0.23439	T	0.014	0.01968	.	.	0.253205268125	0.24938	0.06350221973927411	0.06289	0.258245614036	0.28380	0.423331797123	0.28295	T	0.011622	0.10346	T	-0.562184	0.00246	T	-0.67305	0.07414	T	0.0107156518032679	0.00151	T	0.764923	0.39623	T	0.04071498	0.05863	0.05715914	0.10342	0.045274626	0.07382	0.068579115	0.14340	-3.564	0.22438	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	2.722786	0.35617	19.95	0.97346928616857309	0.33505	0.70160	0.34476	D	AEFGBCI	0.119296	0.23289	N	-0.617639284489508	0.18415	0.9558382	-0.410331147442293	0.24693	1.354	0.998590507875126	0.37268	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.01	1.64	0.22949	1.488000	0.35160	6.434000	0.55639	0.662000	0.56354	0.791000	0.29607	1.000000	0.68203	0.987000	0.62547	0.3357:0.0:0.5106:0.1537	4.545	0.11478	809	0.43032	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005539	0.005051	0.008152	0.011696	0.000000	0.000000	0.003049	0.000000	0.05	913.43	33	chr22	37768157	.	G	A	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.793;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.153;SOR=0.613	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1296	9	0	1	0
chr22	37823563	37823563	C	G	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon1:c.C157G:p.P53A	.	409	1095	16	0	2	18	0.00725295	.	.	.	2822189	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.079	0.00372938010165	0.0044	0.000998403	0.0037	0.0016	0.0025	0	0	0.0047	0.0034	0.0053	0.0033699	521	154602	rs78650836	0.0054	0.0054	0.0054	0.0055	0.0061	0.0053	0.0053	0.0060	0.0059	0.0011	0.0020	0.0109	0	0.0003	0.0061	0.0061	0.0052	0.0047	0.0037	0.0037	0.0040	0.0032	0.0057	0.0034	0.0033	0.0052	0.0050	0.0016	0	0.0021	0.0104	0	0.0002	0.0136	0.0057	0.0028	0.0050	0.344	0.12552	T	0.762	0.04603	T	0.12	0.26678	B	0.023	0.19966	B	0.001413	0.39109	N	0.253805	0.985627	0.24693	N	0.91	0.23283	L	1.23	0.36872	T	-1.24	0.31375	N	0.264	0.29889	-1.0526	0.13682	T	0.031	0.13418	T	10	0.005166143	0.00112	T	0.003729	0.08651	T	0.079	0.23065	.	.	0.561065777782	0.55768	0.12042932136369706	0.11969	0.0635665618396	0.07079	0.426131874323	0.28679	T	0.034868	0.23493	T	-0.476906	0.00771	T	-0.45659	0.26971	T	0.00276266210519693	0.00029	T	0.459554	0.13284	T	0.050487977	0.09128	0.042460885	0.05062	0.050487977	0.09127	0.042460885	0.05062	-5.106	0.37971	T	.	.	0.069	0.03231	B	.	.	1.385777	0.17977	13.48	0.88235374183900261	0.17819	0.83030	0.42184	D	AEFDBI	0.195672	0.32270	N	-0.178552182088162	0.34029	1.937445	0.0200353589479204	0.40646	2.429099	0.999956360252973	0.48110	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.562822	0.20929	0	.	.	5.25	4.24	0.49486	1.413000	0.34333	2.949000	0.35703	0.599000	0.40250	0.936000	0.32490	1.000000	0.68203	0.094000	0.17991	0.2991:0.6141:0.0:0.0869	6.697	0.22394	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.005450	0.000000	0.000000	0.000000	0.012195	0.015152	0.05	1489.43	37	chr22	37823563	.	C	G	1489.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.513;DP=462;ExcessHet=0;FS=28.351;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.2;ReadPosRankSum=2.25;SOR=0.322	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,99,1485	9	0	1	0
chr22	37824853	37824853	G	C	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon2:c.G490C:p.V164L	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.844423935742	0.0003	0.000998403	0.0033	0	0.0033	0	0	0.0038	0.0042	0.0040	0.0009832	152	154602	rs201220537	0.0008	0.0008	0.0007	0.0008	0.0100	0.0007	0.0007	0.0075	0.0067	0.0004	0.0017	0.0088	0	0	0.0100	0.0005	0.0019	0.0012	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0008	0.0013	0.0011	0.0005	0	0.0018	0.0079	0	0	0.0241	0.0007	0.0038	0.0012	0.451	0.08969	T	0.517	0.10572	T	0.067	0.23653	B	0.013	0.16460	B	0.001388	0.39175	N	0.216529	0.567405	0.32265	D	1.005	0.25186	L	-0.59	0.71543	T	-0.81	0.22294	N	0.253	0.28616	-0.7832	0.56121	T	0.164	0.50144	T	10	0.010802358	0.00239	T	0.844424	0.98798	D	0.146	0.38789	0.501	0.59304	0.751730520737	0.74948	0.19785064172882888	0.19702	1.03962625952	0.75747	0.965840280056	0.99958	D	0.034564	0.23370	T	-0.336506	0.05634	T	-0.275159	0.47298	T	0.0344886640305371	0.02721	T	0.465653	0.13651	T	0.45275438	0.64216	0.33595946	0.59404	0.45275438	0.64216	0.33595946	0.59403	-3.212	0.12628	T	.	.	0.160	0.35435	B	.	.	3.462266	0.48258	22.6	0.95845559521342216	0.27976	0.89866	0.50614	D	ALL	0.395779	0.47251	N	-0.18601357204842	0.33717	1.916028	0.00386481695361777	0.39894	2.372386	0.999999927828875	0.74766	0.443343	0.08805	1	0.578056	0.33634	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	4.81	4.81	0.61401	4.773000	0.62025	6.009000	0.52614	0.502000	0.22824	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.1625:0.0:0.8375:0.0	9.770	0.39750	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	493.43	33	chr22	37824853	.	G	C	493.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=-0.943;SOR=0.622	GT:AD:DP:GQ:PL	0/1:37,23:60:99:505,0,803	9	0	1	0
chr22	38082797	38082797	A	G	exonic	SLC16A8	.	nonsynonymous SNV	SLC16A8:NM_013356:exon3:c.T77C:p.F26S	.	414	1088	20	0	0	20	0.00910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.614	.	0.0008	0.00519169	0.0059	0	0.0024	0.0003	0.0009	0.0028	0.0028	0.0189	0.0025355	392	154602	rs76230437	0.0021	0.0021	0.0017	0.0025	0.0140	0.0020	0.0020	0.0133	0.0131	0.0003	0.0010	0.0024	2.555e-05	0.0001	0.0047	0.0014	0.0024	0.0140	0.0016	0.0016	0.0014	0.0017	0.0153	0.0014	0.0014	0.0125	0.0115	0.0001	0.0121	0.0007	0.0026	0	0.0003	0	0.0018	0.0024	0.0153	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000005	0.62929	D	0.000000	0.999998	0.58761	D	3.575	0.93507	H	0.9	0.45248	T	-6.62	0.95815	D	0.673	0.68082	-0.2105	0.77401	T	0.322	0.69056	T	10	0.011802018	0.00256	T	.	.	.	0.614	0.84932	.	.	0.650396906566	0.64749	0.9199488251834103	0.91970	0.940998533728	0.72202	0.707973182201	0.68300	T	0.451162	0.79199	T	-0.0446398	0.45257	T	0.174778	0.81693	D	0.155474108007556	0.17531	T	0.933907	0.75876	D	0.9502605	0.96292	0.95024955	0.98414	0.9502605	0.96292	0.95024955	0.98415	-10.613	0.77494	D	.	.	0.950	0.86878	P	.;.	.;.	4.806610	0.78151	26.8	0.99847016519748233	0.92663	0.94348	0.60879	D	AEFDGBHCI	0.887559	0.81990	D	0.800811689162397	0.86157	8.796093	0.705053027307735	0.82764	7.848117	0.999999999989457	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.45	4.45	0.53365	7.292000	0.78084	6.765000	0.56546	0.745000	0.86679	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.018	0.64051	504	0.75712	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007700	0.010870	0.005464	0.002994	0.000000	0.000000	0.012579	0.015504	0.05	523.43	37	chr22	38082797	.	A	G	523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.054;DP=362;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=1.23;SOR=0.412	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1237	9	0	1	0
chr22	38169240	38169240	T	C	exonic	PLA2G6	.	nonsynonymous SNV	PLA2G6:NM_001004426:exon2:c.A187G:p.R63G,PLA2G6:NM_001199562:exon2:c.A187G:p.R63G,PLA2G6:NM_001349864:exon2:c.A187G:p.R63G,PLA2G6:NM_001349865:exon2:c.A187G:p.R63G,PLA2G6:NM_001349866:exon2:c.A187G:p.R63G,PLA2G6:NM_003560:exon2:c.A187G:p.R63G	Infantile neuroaxonal dystrophy 1, Autosomal recessive;Neurodegeneration with brain iron accumulation 2B, Autosomal recessive;Parkinson disease 14, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	689290	not_provided|Infantile_neuroaxonal_dystrophy	MedGen:C3661900|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600,Orphanet:35069	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.154	.	0.0045	0.00359425	0.0011	0.0131	0.0003	0	0	0	0	0	0.0010479	162	154602	rs11570606	0.0003	0.0003	0.0004	0.0003	0.0117	0.0003	0.0003	0.0108	0.0104	0.0117	0.0004	0	0	0	0.0005	8.994e-06	0.0006	5.798e-05	0.0035	0.0035	0.0035	0.0034	0.0122	0.0032	0.0031	0.0113	0.0110	0.0122	0	0.0008	0	0	0	0	0	0.0033	0	0.117	0.49117	T	0.303	0.92824	T	0.456	0.59675	P	0.109	0.70672	B	0.010118	0.30062	N	0.391272	0.957729	0.26251	N	1.6	0.40776	L	0.06	0.74689	T	-1.53	0.77637	N	0.41	0.52918	-0.8689	0.50612	T	0.209	0.56906	T	10	0.0058707297	0.00131	T	.	.	.	0.154	0.40340	.	.	0.825430356861	0.82378	0.45696718359733185	0.45614	0.359941591937	0.37683	0.365423500538	0.20173	T	0.159208	0.50255	T	-0.308645	0.07868	T	-0.205093	0.54163	T	0.025088363342983	0.01285	T	0.876412	0.67374	D	0.12935235	0.30215	0.10047697	0.24023	0.08232969	0.18961	0.0922209	0.21722	-4.913	0.35881	T	0.16304576920600222	0.20066	0.124	0.35056	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.310840	0.29582	18.17	0.99668153854644137	0.78394	0.60549	0.31227	D	AEFBI	0.204246	0.33069	N	-0.114062243429727	0.36780	2.13065	-0.0476923648846562	0.37590	2.20302	0.948613022331147	0.27808	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.81	3.76	0.42368	2.044000	0.40863	2.392000	0.32546	0.665000	0.62972	1.000000	0.71638	0.996000	0.32793	0.955000	0.50612	0.0:0.0965:0.1886:0.7149	4.978	0.13500	360	0.84920	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	492.43	33	chr22	38169240	.	T	C	492.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.303;DP=446;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.23;ReadPosRankSum=-0.453;SOR=0.793	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1336	9	0	1	0
chr22	38474565	38474565	C	G	exonic	KDELR3	.	nonsynonymous SNV	KDELR3:NM_006855:exon2:c.C134G:p.T45S,KDELR3:NM_016657:exon2:c.C134G:p.T45S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0150566900736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.38633	T	0.079	0.42086	T	0.087	0.24971	B	0.081	0.29521	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	0.96	0.43279	T	-2.61	0.56466	D	0.723	0.72567	-0.9911	0.32321	T	0.115	0.40808	T	10	0.5921849	0.66442	D	0.015057	0.35570	T	0.206	0.49396	0.535	0.64439	0.563432924419	0.56005	0.5362329687764102	0.53548	0.172976115961	0.19485	0.718571424484	0.69839	T	0.048711	0.28096	T	0.0682807	0.60639	T	-0.139696	0.60145	T	0.954832136631012	0.64360	D	0.909209	0.67884	D	0.37715387	0.59110	0.30954057	0.56968	0.37715387	0.59110	0.30954057	0.56967	-4.403	0.29598	T	.	.	0.169	0.39408	B	.;.	.;.	3.487442	0.48728	22.7	0.99268119735971039	0.57457	0.98892	0.88252	D	AEFDBI	0.941372	0.94455	D	0.101124488174029	0.46514	2.890701	0.239387150744312	0.52048	3.382379	0.999999999975655	0.74766	0.706548	0.73137	0	0.60822	0.50512	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.55	4.55	0.55429	7.879000	0.85694	4.817000	0.45088	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:1.0:0.0:0.0	17.498	0.87618	680	0.59965	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	994.43	34	chr22	38474565	.	C	G	994.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.3;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.604;SOR=0.697	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1068	9	0	1	0
chr22	38474603	38474603	A	C	exonic	KDELR3	.	nonsynonymous SNV	KDELR3:NM_006855:exon2:c.A172C:p.I58L,KDELR3:NM_016657:exon2:c.A172C:p.I58L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	0.00319489	0.0017	0	0	0	0	0	0.0011	0.0127	0.0014748	228	154602	rs568333738	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0098	0.0095	0	0	3.83e-05	2.522e-05	0	0.0003	1.711e-05	0.0009	0.0103	0.0003	0.0003	0.0002	0.0004	0.0094	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0	0	0	0	0	0.0094	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.06944	B	0.105508	0.19655	N	0.541750	0.997948	0.22431	N	-1.445	0.00556	N	1.68	0.27184	T	0.22	0.04694	N	0.262	0.30004	-0.9493	0.41092	T	0.013	0.04890	T	10	0.009103596	0.00206	T	.	.	.	0.052	0.14661	.	.	0.252162846088	0.24830	0.5907734261890317	0.59007	0.130440611418	0.14714	0.389241188765	0.23563	T	0.001511	0.00960	T	-0.633445	0.00091	T	-0.672288	0.07462	T	0.0159804674286735	0.00380	T	0.782222	0.42297	T	0.037487485	0.04815	0.041220337	0.04634	0.037487485	0.04814	0.041220337	0.04634	-1.126	0.01546	T	.	.	0.059	0.00919	B	.;.	.;.	0.767367	0.11374	7.987	0.66478726392947529	0.08071	0.14611	0.18494	N	AEFDBI	0.125112	0.24148	N	-1.11595518390641	0.06359	0.2924936	-0.923119287250423	0.11550	0.5890433	0.504631949144205	0.20971	0.706548	0.73137	0	0.627178	0.54094	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.55	1.03	0.19161	-0.580000	0.05920	0.181000	0.15632	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.4613:0.2049:0.3338:0.0	6.035	0.18924	680	0.59965	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	1004.43	34	chr22	38474603	.	A	C	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.964;DP=402;ExcessHet=0;FS=2.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.593;SOR=1.032	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1068	9	0	1	0
chr22	38628888	38628890	AGA	-	exonic	FAM227A	.	nonframeshift deletion	FAM227A:NM_001384271:exon6:c.94_96del:p.S32del,FAM227A:NM_001013647:exon7:c.565_567del:p.S189del,FAM227A:NM_001291030:exon7:c.286_288del:p.S96del,FAM227A:NM_001384270:exon7:c.286_288del:p.S96del	.	436	1074	11	1	0	13	0.00601573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00359425	0.0034	0.0103	0.0049	0	0	0.0018	0	0.0043	0.0003842	10	26028	rs201151092	0.0010	0.0010	0.0010	0.0011	0.0078	0.0010	0.0010	0.0070	0.0067	0.0078	0.0011	0.0044	0.0021	4.06e-05	0.0069	0.0005	0.0022	0.0027	0.0031	0.0032	0.0032	0.0031	0.0086	0.0029	0.0028	0.0079	0.0076	0.0086	0	0.0017	0.0046	0.0015	0	0.0102	0.0006	0.0028	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001244	0.005319	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	249.39	35	chr22	38628887	.	GAGA	G	249.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=258;ExcessHet=0;FS=4.752;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-0.908;SOR=1.479	GT:AD:DP:GQ:PL	0/0:24,0:24:72:0,72,619	9	0	1	0
chr22	39031824	39031824	G	T	exonic	APOBEC3D	.	nonsynonymous SNV	APOBEC3D:NM_001363781:exon3:c.G341T:p.G114V,APOBEC3D:NM_152426:exon6:c.G893T:p.G298V	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.0324937952481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.209e-06	8.209e-06	5.445e-06	1.1e-05	0.0005	4.38e-06	3.46e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	5.396e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.153	0.32144	T	0.997	0.70673	D	0.955	0.69585	D	.	.	.	.	1	0.08975	N	2.105	0.58435	M	-0.09	0.64086	T	-3.09	0.65742	D	0.173	0.18512	-0.8063	0.54772	T	0.279	0.65068	T	9	0.16435307	0.30750	T	0.032494	0.54307	D	0.115	0.32236	0.46	0.52753	0.298056030225	0.29408	0.09466985776421802	0.09398	0.887394481255	0.70061	0.213677242398	0.00977	T	0.129594	0.45796	T	-0.180121	0.23716	T	-0.496508	0.22710	T	0.500771343708038	0.32657	D	0.531747	0.17685	T	0.12241637	0.28766	0.10363549	0.24870	0.12241637	0.28766	0.10363549	0.24869	-4.613	0.32335	T	.	.	0.168	0.37482	B	.;.;.;.	.;.;.;.	-0.026534	0.04101	0.967	0.95022929075127416	0.26008	0.01058	0.03933	N	AEFGBI	0.083356	0.16887	N	-0.706052876794826	0.15851	0.8025349	-0.979017599329552	0.10257	0.5154352	0.982264842244097	0.30375	0.634777	0.41761	0	0.643519	0.57511	0	0.601644	0.32324	0	0.655142	0.61905	0	.	.	1.84	-1.76	0.07574	-0.456000	0.06829	-4.065000	0.02363	-0.320000	0.05874	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5978:0.0:0.4022:0.0	5.176	0.14462	350	0.85473	.;APOBEC-like, N-terminal|APOBEC/CMP deaminase, zinc-binding|Cytidine and deoxycytidylate deaminase domain;APOBEC-like, N-terminal|APOBEC/CMP deaminase, zinc-binding|Cytidine and deoxycytidylate deaminase domain;APOBEC-like, N-terminal|APOBEC/CMP deaminase, zinc-binding|Cytidine and deoxycytidylate deaminase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3565.43	34	chr22	39031824	.	G	T	3565.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.901;DP=587;ExcessHet=0;FS=0.932;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=48.57;MQRankSum=0.014;QD=13.3;ReadPosRankSum=-0.831;SOR=0.783	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr22	39043062	39043062	G	C	exonic	APOBEC3F	.	nonsynonymous SNV	APOBEC3F:NM_001006666:exon2:c.G143C:p.R48P,APOBEC3F:NM_145298:exon2:c.G143C:p.R48P	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0008	0.0101837	0.0025	0.0212	0.0018	0.0002	0	0.0004	0	0.0023	0.0030352	79	26028	rs35053197	0.0012	0.0015	0.0013	0.0012	0.0255	0.0012	0.0012	0.0241	0.0235	0.0255	0.0026	0.0001	0.0001	0	0.0021	0.0005	0.0021	0.0019	0.0088	0.0089	0.0090	0.0085	0.0288	0.0084	0.0082	0.0275	0.0269	0.0288	0	0.0048	0	0.0004	0	0	0.0006	0.0057	0.0021	1.0	0.05567	T	0.604	0.11551	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.645	0.00393	N	0.09	0.61443	T	2.38	0.00266	N	0.069	0.05670	-1.0857	0.06281	T	0.025	0.10643	T	9	0.0034030378	0.00060	T	.	.	.	0.048	0.13305	.	.	0.137902524267	0.13322	0.5381786369226277	0.53742	0.5166844113	0.49556	0.315591454506	0.12754	T	0.001673	0.01102	T	-0.258157	0.13117	T	-0.608601	0.12099	T	0.00348881894533622	0.00037	T	0.460954	0.20620	T	0.17501996	0.38337	0.09503999	0.22522	0.17501996	0.38337	0.09503999	0.22522	-3.741	0.19925	T	.	.	0.068	0.02765	B	.;.	.;.	-0.858469	0.00998	0.040	0.35880786322282848	0.02277	0.00008	0.00134	N	AEFGBI	0.010635	0.00079	N	-1.90318807659781	0.00338	0.01452353	-1.95974569447857	0.00371	0.01640468	0.998976998915207	0.38110	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	1.14	-2.28	0.06438	-1.252000	0.02990	-2.949000	0.03201	-1.133000	0.01453	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1993:0.2767:0.2:0.324	0.275	0.00219	344	0.85734	APOBEC-like, N-terminal|Cytidine and deoxycytidylate deaminase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007455	0.010204	0.009537	0.008197	0.000000	0.017241	0.003086	0.007634	0.05	469.43	36	chr22	39043062	.	G	C	469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=7.05;DP=482;ExcessHet=0;FS=2.818;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.19;MQRankSum=-8.201;QD=2.78;ReadPosRankSum=1.94;SOR=1.044	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1382	9	0	1	0
chr22	39364270	39364270	A	G	exonic	SYNGR1	.	nonsynonymous SNV	SYNGR1:NM_145738:exon1:c.A76G:p.S26G	.	417	1091	13	1	0	15	0.00682749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0043	0.00798722	0.0042	0.0096	0.0092	0	0	0.0042	0.0099	0.0003	0.0041785	646	154602	rs77424082	0.0034	0.0034	0.0034	0.0033	0.0240	0.0033	0.0033	0.0207	0.0195	0.0093	0.0100	0.0266	0	7.491e-05	0.0240	0.0025	0.0083	0.0003	0.0061	0.0061	0.0065	0.0057	0.0142	0.0058	0.0057	0.0127	0.0121	0.0089	0	0.0142	0.0242	0	0.0005	0.0442	0.0030	0.0175	0.0002	0.079	0.33753	T	0.025	0.56192	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.46	0.35792	N	0.117	0.10626	-1.0215	0.23227	T	0.043	0.18576	T	7	0.0036369264	0.00066	T	.	.	.	0.027	0.05988	.	.	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.702086	0.00035	T	-0.773313	0.02661	T	0.00149790500072616	0.00015	T	0.245875	0.03603	T	.	.	.	.	.	.	.	.	-3.098	0.11273	T	.	.	0.079	0.07460	B	.	.	0.973775	0.13511	10.03	0.74917177669923385	0.10876	0.00080	0.00545	N	AEFDGBHCI	0.011557	0.00105	N	-1.26110416149846	0.04155	0.1869824	-1.39628340502482	0.03291	0.1532431	0.999999853745799	0.74766	0.608966	0.35542	0	0.573888	0.26702	0	0.769059	0.98459	0	0.613276	0.41899	0	.	.	2.03	-2.36	0.06282	0.258000	0.18156	-0.569000	0.08436	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.182:0.0:0.378:0.44	2.541	0.04438	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.037764	0.146465	0.046196	0.011696	0.000000	0.017241	0.006098	0.000000	0.05	887.43	34	chr22	39364270	.	A	G	887.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.058;DP=439;ExcessHet=0;FS=1.534;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=1.17;SOR=0.522	GT:AD:DP:GQ:PL	0/1:76,44:120:99:899,0,1802	9	0	1	0
chr22	39487401	39487401	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C54G:p.C18W,MGAT3:NM_002409:exon2:c.C54G:p.C18W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.00928000961584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.053e-05	0.0007	6.065e-05	4.032e-05	0.0002	4.107e-05	3.778e-05	7.907e-05	5.367e-05	0.0002	0	0	2.526e-05	1.888e-05	0	5.279e-05	8.352e-05	2.351e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	.	.	.	-2.82	0.98918	D	0.891	0.89020	-0.6091	0.64441	T	0.254	0.62417	T	9	0.9666564	0.96163	D	0.00928	0.24366	T	0.467	0.76222	0.891	0.97367	0.427940940899	0.42412	0.9367500656120937	0.93655	2.60696827796	0.98215	0.840098500252	0.88110	D	0.721539	0.92134	D	0.344	0.86089	D	0.256068	0.85906	D	0.962799787521362	0.66471	D	0.887111	0.61484	D	0.7679175	0.81923	0.73513645	0.84346	0.7679175	0.81924	0.73513645	0.84347	-6.473	0.50078	T	.	.	0.914	0.93695	P	.;.;.	.;.;.	3.752512	0.53796	23.4	0.99322247773775674	0.59431	0.91717	0.54114	D	AEFDBCI	0.909483	0.86618	D	0.365176442442986	0.59547	4.134862	0.35561719820587	0.58846	4.057947	0.999785587597136	0.43007	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	4.14	0.47821	1.635000	0.36747	1.717000	0.28234	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.845:0.0:0.155	9.950	0.40802	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	38.37	69	chr22	39487401	.	C	G	38.37	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.804;DP=833;ExcessHet=0;FS=60.063;InbreedingCoeff=-0.1767;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.343;SOR=5.417	GT:AD:DP:GQ:PL	0/0:76,0:76:65:0,65,1473	5	0	1	4
chr22	39487402	39487402	C	T	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C55T:p.L19F,MGAT3:NM_002409:exon2:c.C55T:p.L19F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00225134861256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.51853	D	0.032	0.92824	D	0.981	0.59675	D	0.617	0.51308	P	0.000129	0.49741	D	0.078023	0.998146	0.44558	D	0.805	0.20218	L	.	.	.	-0.98	0.62343	N	0.325	0.36569	-0.8478	0.52120	T	0.148	0.47451	T	9	0.3317296	0.50390	T	0.002251	0.04287	T	0.132	0.35948	0.308	0.27967	0.265929055128	0.26215	0.6870414125027167	0.68644	1.20213456134	0.80570	0.743240952492	0.73449	T	0.227817	0.59320	T	0.032352	0.56037	T	-0.191305	0.55468	T	0.788089334964752	0.45565	D	0.828317	0.49240	T	0.17247206	0.37940	0.14032614	0.33453	0.17247206	0.37940	0.14032614	0.33452	-4.246	0.27412	T	.	.	0.099	0.71346	B	.;.;.	.;.;.	3.240580	0.44233	21.9	0.98664390496305698	0.44372	0.93304	0.57859	D	AEFDBCI	0.842683	0.75978	D	0.417591785815999	0.62390	4.454057	0.478240209882256	0.66549	4.966743	0.999999884736667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	5.15	0.70287	4.720000	0.61636	7.504000	0.59526	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8512:0.1488:0.0	14.273	0.65712	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	64.73	36	chr22	39487402	.	C	T	64.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.383;DP=604;ExcessHet=0;FS=81.914;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.59;ReadPosRankSum=0.283;SOR=6.09	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,105,1404	7	0	1	2
chr22	39488527	39488527	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C1180G:p.Q394E,MGAT3:NM_002409:exon2:c.C1180G:p.Q394E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0020343775265	.	.	8.367e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs566293253	1.095e-05	1.094e-05	1.226e-05	9.631e-06	0.0003	6.48e-06	5.25e-06	0.0002	0.0001	0	0	0	0.0003	0	0.0003	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.06606	T	0.965	0.02516	T	0.002	0.09854	B	0.002	0.06944	B	0.000147	0.49130	D	0.138597	0.574709	0.32323	D	0.685	0.16464	N	.	.	.	0.14	0.05405	N	0.239	0.26957	-1.0042	0.28696	T	0.081	0.32119	T	9	0.2754413	0.45103	T	0.002034	0.03695	T	0.056	0.15993	0.635	0.77142	0.261217442401	0.25729	0.8760049446827185	0.87567	1.18081421564	0.80015	0.600806057453	0.53018	T	0.22298	0.58699	T	-0.328594	0.06218	T	-0.445351	0.28210	T	0.0672730067747869	0.08263	T	0.857714	0.54741	D	0.123945855	0.29092	0.12373317	0.29832	0.123945855	0.29092	0.12373317	0.29831	-4.027	0.24206	T	.	.	0.071	0.03698	B	.	.	2.122461	0.27015	17.32	0.82860752655228309	0.14414	0.85408	0.44538	D	AEFDBCI	0.452129	0.50582	N	-0.42653382799965	0.24543	1.325932	-0.210570395257627	0.31154	1.76056	0.999999875414773	0.74766	0.700653	0.57754	0	0.702456	0.74545	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	5.37	4.33	0.51083	3.605000	0.53839	5.929000	0.51288	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.981000	0.58702	0.0:0.8669:0.1331:0.0	16.203	0.81921	906	0.23090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1694.43	36	chr22	39488527	.	C	G	1694.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=488;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-1.924;SOR=0.708	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1485	9	0	1	0
chr22	39513545	39513545	T	C	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.T614C:p.I205T,MIEF1:NM_019008:exon6:c.T614C:p.I205T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.0111785295086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.017	0.60972	D	0.684	0.41517	P	0.419	0.45047	B	0.000000	0.84330	D	0.078099	0.999927	0.51308	D	1.59	0.40313	L	3.12	0.08106	T	-1.97	0.45587	N	0.668	0.67650	-1.0462	0.15476	T	0.027	0.11663	T	10	0.28728196	0.46311	T	0.011179	0.28538	T	0.197	0.47942	0.479	0.55823	0.434606191737	0.43079	0.6967121627676782	0.69612	0.646926983572	0.58097	0.768396914005	0.77185	T	0.023916	0.18170	T	-0.00951075	0.50334	T	-0.251438	0.49675	T	0.673523485660553	0.39495	D	0.941806	0.78262	D	0.6869494	0.77346	0.41197166	0.65413	0.6869494	0.77347	0.41197166	0.65413	-6.327	0.48936	T	.	.	0.511	0.65078	A	.;.;.	.;.;.	3.964871	0.58176	23.9	0.99494184934074625	0.67630	0.98101	0.79606	D	AEFDBI	0.785088	0.71558	D	0.268882310333112	0.54578	3.623107	0.385690595718469	0.60681	4.258515	0.999999999999953	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	6.263000	0.72483	7.926000	0.74773	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	16.629	0.84866	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1593.43	34	chr22	39513545	.	T	C	1593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.286;DP=465;ExcessHet=0;FS=3.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.004;SOR=0.465	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr22	39513595	39513595	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G664A:p.D222N,MIEF1:NM_019008:exon6:c.G664A:p.D222N	.	416	1098	8	0	0	8	0.00362976	.	.	.	2822212	Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.176	0.00398576918541	0.0022	0.000798722	0.0027	0.0006	0.0010	0	0.0003	0.0030	0.0033	0.0061	0.0027425	424	154602	rs138446352	0.0029	0.0029	0.0028	0.0031	0.0068	0.0029	0.0028	0.0059	0.0057	0.0004	0.0013	0.0047	0	0.0003	0.0068	0.0030	0.0023	0.0063	0.0022	0.0022	0.0022	0.0022	0.0039	0.0020	0.0019	0.0030	0.0029	0.0006	0.0055	0.0019	0.0037	0	0.0002	0.0068	0.0034	0.0033	0.0039	0.004	0.68238	D	0.007	0.69154	D	0.684	0.41517	P	0.5	0.47649	P	0.000001	0.84330	D	0.126579	0.998673	0.45259	D	2.375	0.68372	M	3.1	0.08283	T	-2.44	0.53420	N	0.649	0.66016	-1.2257	0.00038	T	0.043	0.18285	T	10	0.010844678	0.00240	T	0.003986	0.09431	T	0.176	0.44373	.	.	0.610735333248	0.60760	0.6501875904085627	0.64954	0.519585128678	0.49787	0.832304000854	0.86915	D	0.052605	0.29209	T	-0.491669	0.00636	T	-0.476552	0.24814	T	0.0348281721890081	0.02780	T	0.958404	0.84340	D	0.6891166	0.77464	0.6608541	0.80128	0.6891166	0.77465	0.6608541	0.80129	-4.804	0.34638	T	.	.	0.203	0.42735	B	.;.;.	.;.;.	4.335055	0.66457	25.0	0.99904953837129651	0.97576	0.98909	0.88484	D	AEFDBI	0.942117	0.94628	D	0.575323907249772	0.71638	5.681228	0.670959388944183	0.80180	7.241852	0.999999999993547	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.639134	0.45391	0	0.714379	0.83352	0	.	.	6.07	6.07	0.98675	8.000000	0.88004	11.853000	0.98135	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.1333:0.8667:0.0	16.051	0.80567	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.006793	0.002924	0.000000	0.000000	0.012195	0.011364	0.05	1730.43	34	chr22	39513595	.	G	A	1730.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.47;DP=455;ExcessHet=0;FS=1.387;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=2.04;SOR=0.554	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr22	39513721	39513721	G	A	exonic	MIEF1	.	nonsynonymous SNV	MIEF1:NM_001304564:exon6:c.G790A:p.D264N,MIEF1:NM_019008:exon6:c.G790A:p.D264N	.	426	1081	15	0	0	15	0.00689022	.	.	.	3407988	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.342	.	0.0078	0.00199681	0.0062	0.0016	0.0016	0	0.0055	0.0093	0.0088	0.0033	0.0066235	1024	154602	rs2232091	0.0090	0.0090	0.0092	0.0088	0.0109	0.0089	0.0088	0.0107	0.0106	0.0013	0.0021	0.0007	2.519e-05	0.0049	0.0010	0.0109	0.0061	0.0038	0.0062	0.0062	0.0068	0.0056	0.0106	0.0058	0.0057	0.0100	0.0097	0.0017	0.0011	0.0041	0	0	0.0044	0	0.0106	0.0061	0.0046	0.127	0.27783	T	0.195	0.29639	T	0.722	0.42387	P	0.383	0.43945	B	0.000037	0.55875	D	0.195954	0.999756	0.48800	D	-0.11	0.04642	N	3.09	0.08371	T	-1.14	0.33998	N	0.314	0.35408	-1.1016	0.03903	T	0.022	0.09467	T	10	0.0066976547	0.00152	T	.	.	.	0.342	0.66392	.	.	0.505640481493	0.50201	0.26399582594437004	0.26312	0.396982738473	0.40801	0.562705039978	0.47649	T	0.016089	0.13370	T	-0.639447	0.00084	T	-0.679622	0.07007	T	0.0437599858947382	0.04377	T	0.711829	0.32527	T	0.1715629	0.37797	0.24830832	0.50379	0.1715629	0.37796	0.24830832	0.50378	-5.711	0.43791	T	.	.	0.097	0.15921	B	.;.;.	.;.;.	4.298561	0.65610	24.9	0.99827324287167707	0.90939	0.99524	0.97054	D	AEFDBI	0.926441	0.90755	D	0.38966932153605	0.60862	4.27994	0.548490651309824	0.71293	5.632706	1.0	0.98316	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	9.992000	0.99232	7.577000	0.60860	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	20.644	0.99572	900	0.24599	Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain;Mab-21 domain|Mab-21 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	2292.43	34	chr22	39513721	.	G	A	2292.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.954;DP=518;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.252;SOR=0.667	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1530	9	0	1	0
chr22	39532512	39532512	G	A	exonic	RPS19BP1	.	nonsynonymous SNV	RPS19BP1:NM_194326:exon2:c.C64T:p.P22S	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0068	0.00778754	0.0025	0.0279	0.0010	0	0	1.52e-05	0	6.058e-05	0.0022639	350	154602	rs75899575	0.0007	0.0007	0.0008	0.0007	0.0281	0.0007	0.0007	0.0266	0.0260	0.0281	0.0009	0	0	0	0.0009	7.195e-06	0.0016	5.797e-05	0.0069	0.0069	0.0070	0.0068	0.0238	0.0065	0.0064	0.0226	0.0221	0.0238	0	0.0031	0	0	0	0	2.94e-05	0.0052	0	0.485	0.08115	T	0.618	0.07493	T	0.001	0.07471	B	0.003	0.08700	B	0.447315	0.12552	N	0.754197	1	0.08975	N	0.205	0.09354	N	1.04	0.40218	T	-0.15	0.09297	N	0.098	0.07949	-1.0659	0.10339	T	0.018	0.07470	T	10	0.0026219785	0.00040	T	.	.	.	0.017	0.02790	.	.	0.250039746154	0.24611	0.11767168548345407	0.11694	0.567776707679	0.53022	0.404454112053	0.25688	T	0.011804	0.10480	T	-0.692043	0.00041	T	-0.747251	0.03595	T	0.0024548098871675	0.00025	T	0.717928	0.33070	T	0.024459455	0.01279	0.048950154	0.07378	0.024459455	0.01279	0.048950154	0.07378	-3.702	0.19348	T	.	.	0.058	0.00670	B	.	.	0.570594	0.09389	6.171	0.79282050083999434	0.12671	0.05213	0.11040	N	AEFDGBHCI	0.090806	0.18398	N	-1.06764966621116	0.07246	0.3360129	-1.05030683462919	0.08701	0.4290944	0.999999834079268	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.44	1.92	0.24912	0.198000	0.17018	-0.819000	0.07303	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.1636:0.4892:0.3472:0.0	8.183	0.30484	883	0.28872	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.005051	0.000000	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1093.43	37	chr22	39532512	.	G	A	1093.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.185;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-0.628;SOR=0.743	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1159	9	0	1	0
chr22	39663823	39663823	G	C	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon18:c.G3474C:p.Q1158H,CACNA1I:NM_021096:exon19:c.G3579C:p.Q1193H	.	256	1257	9	0	0	9	0.00356718	.	.	.	2819537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.495	0.18197023949	0.0037	0.000798722	0.0035	0.0009	0.0009	0	0.0017	0.0057	0.0022	0.0005	0.0034346	531	154602	rs58500586	0.0040	0.0040	0.0040	0.0040	0.0040	0.0039	0.0039	0.0039	0.0038	0.0008	0.0013	0.0334	0	0.0014	0.0033	0.0040	0.0049	0.0005	0.0032	0.0032	0.0031	0.0032	0.0039	0.0029	0.0028	0.0035	0.0034	0.0008	0	0.0036	0.0325	0	0.0008	0	0.0039	0.0033	0.0002	0.062	0.39097	T	0.099	0.39340	T	0.995	0.77913	D	0.834	0.86255	P	0.000001	0.62929	D	0.057229	0.999703	0.48408	D	1.53	0.38800	L	-4.32	0.97218	D	-1.85	0.43524	N	0.424	0.49965	0.866	0.95222	D	0.886	0.96202	D	10	0.0099307	0.00223	T	0.18197	0.85590	D	0.495	0.78036	0.322	0.30226	0.575872055055	0.57256	0.7720933594612088	0.77159	0.919939869185	0.71406	0.56018435955	0.47294	T	0.313575	0.68531	T	-0.164328	0.26097	T	-0.0078684	0.69824	D	0.0288592784236747	0.01817	T	0.870713	0.57574	D	0.18445477	0.39761	0.17871086	0.40557	0.18445477	0.39760	0.17871086	0.40557	-10.51	0.80738	D	.	.	0.226	0.46539	B	.;.;.;.	.;.;.;.	3.645095	0.51706	23.1	0.99636912810891531	0.76387	0.81778	0.41114	D	AEFDGBHCI	0.639350	0.61743	D	0.407672679434896	0.61845	4.39106	0.404821502751809	0.61864	4.392677	0.999999999998786	0.74766	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	5.4	5.4	0.77957	2.568000	0.45628	1.950000	0.29880	-0.724000	0.03774	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:1.0:0.0	19.174	0.93579	843	0.36859	.;.;.;Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	4345.43	34	chr22	39663823	.	G	C	4345.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.254;DP=614;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=-0.675;SOR=0.672	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,102,1530	9	0	1	0
chr22	40681609	40681609	G	A	exonic	MCHR1	.	nonsynonymous SNV	MCHR1:NM_005297:exon2:c.G743A:p.R248Q	.	409	1111	2	0	0	2	0.000899281	.	.	.	3200706	MCHR1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.214	0.00613381426101	0.0028	0.00139776	0.0038	0.0016	0.0042	0.0001	0.0045	0.0054	0.0033	0.0002	0.0038357	593	154602	rs45439291	0.0036	0.0036	0.0037	0.0035	0.0041	0.0035	0.0035	0.0040	0.0039	0.0007	0.0032	0.0013	0.0002	0.0050	0.0029	0.0041	0.0040	0.0002	0.0032	0.0032	0.0035	0.0028	0.0047	0.0030	0.0029	0.0043	0.0041	0.0011	0.0011	0.0043	0.0009	0	0.0035	0	0.0047	0.0066	0	0.101	0.30375	T	0.334	0.18340	T	0.916	0.50672	P	0.472	0.46817	P	0.000007	0.62929	D	0.105851	0.999581	0.47691	D	1.465	0.36909	L	0.95	0.43279	T	-1.31	0.32791	N	0.25	0.71854	-1.0161	0.24980	T	0.086	0.33494	T	10	0.0070323944	0.00160	T	0.006134	0.16052	T	0.214	0.50650	.	.	0.718718502515	0.71624	0.7911548810894585	0.79067	0.223380580121	0.24866	0.60483288765	0.53586	T	0.130781	0.45988	T	-0.145341	0.29042	T	0.0195427	0.71600	D	0.0113317289092057	0.00168	T	0.873313	0.58144	D	0.19810665	0.41700	0.13951473	0.33285	0.19810665	0.41700	0.13951473	0.33285	-4.208	0.26867	T	.	.	0.122	0.35705	B	.;.	.;.	4.576941	0.72268	25.8	0.9987684645875583	0.95410	0.95028	0.63176	D	AEFDBI	0.631920	0.61272	D	0.338690941548145	0.58145	3.985161	0.363045021883884	0.59297	4.106359	0.999999991555061	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.24	4.2	0.48814	3.939000	0.56302	8.682000	0.78047	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8369:0.1631	12.976	0.57942	225	0.91282	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	2499.43	34	chr22	40681609	.	G	A	2499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=1.65;SOR=0.665	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1313	9	0	1	0
chr22	40681891	40681891	C	T	exonic	MCHR1	.	nonsynonymous SNV	MCHR1:NM_005297:exon2:c.C1025T:p.T342M	.	418	1082	22	0	0	22	0.010064	.	.	.	2819570	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.214	.	0.0031	0.00279553	0.0038	0.0028	0.0035	0.0002	0	0.0048	0.0159	0.0031	0.0035252	545	154602	rs149604804	0.0025	0.0025	0.0024	0.0027	0.0319	0.0024	0.0024	0.0281	0.0267	0.0032	0.0050	0.0388	7.557e-05	7.778e-05	0.0319	0.0014	0.0054	0.0029	0.0033	0.0033	0.0029	0.0038	0.0071	0.0031	0.0030	0.0060	0.0056	0.0020	0	0.0071	0.0375	0	0	0.0374	0.0021	0.0076	0.0019	0.046	0.42199	D	0.004	0.74150	D	0.44	0.35893	B	0.032	0.22131	B	0.023897	0.26361	N	0.408414	0.623305	0.32725	D	0.55	0.14455	N	-0.14	0.65006	T	-1.43	0.35194	N	0.101	0.26233	-0.9628	0.38645	T	0.084	0.32814	T	10	0.0035276115	0.00063	T	.	.	.	0.214	0.50650	.	.	0.754221005394	0.75199	0.43508045162272774	0.43425	0.13624951485	0.15368	0.481234312057	0.36227	T	0.119658	0.44134	T	-0.365716	0.03817	T	-0.297973	0.44937	T	0.00477826744732981	0.00051	T	0.855914	0.54393	D	0.02864106	0.02232	0.07494837	0.16448	0.02864106	0.02232	0.07494837	0.16447	-5.493	0.41803	T	.	.	0.083	0.11317	B	.;.	.;.	3.091181	0.41625	21.4	0.99813455680614382	0.89708	0.20435	0.21040	N	AEFDBI	0.130182	0.24864	N	-0.51816805231956	0.21493	1.141	-0.497936638140864	0.22211	1.205269	0.999998815703172	0.74766	0.614807	0.35715	0	0.547309	0.14657	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	5.02	4.0	0.45673	0.566000	0.23296	2.828000	0.35004	0.594000	0.32500	0.062000	0.21832	0.994000	0.32194	0.559000	0.30388	0.0:0.9036:0.0:0.0964	9.823	0.40062	225	0.91282	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026687	0.015152	0.043478	0.032164	0.000000	0.008621	0.018293	0.011364	0.05	1574.43	34	chr22	40681891	.	C	T	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-0.327;SOR=0.705	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1313	9	0	1	0
chr22	41150154	41150154	C	A	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon13:c.C2695A:p.P899T,EP300:NM_001429:exon14:c.C2773A:p.P925T	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	137778	Rubinstein-Taybi_syndrome_due_to_CREBBP_mutations|not_provided|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|Colorectal_cancer|Menke-Hennekam_syndrome_2|not_specified	MONDO:MONDO:0008393,MedGen:C4551859,OMIM:180849,Orphanet:353277,Orphanet:783|MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|MONDO:MONDO:0005575,MedGen:C0346629,OMIM:114500|MONDO:MONDO:0020769,MedGen:C5193035,OMIM:618333|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.289	0.025352112342	0.0050	0.00159744	0.0040	0.0018	0.0062	0	0.0015	0.0055	0.0024	0.0012	0.0039456	610	154602	rs148884710	0.0063	0.0063	0.0065	0.0060	0.0075	0.0062	0.0061	0.0074	0.0073	0.0010	0.0062	0.0004	0	0.0014	0.0024	0.0075	0.0054	0.0012	0.0040	0.0040	0.0041	0.0039	0.0063	0.0037	0.0036	0.0058	0.0056	0.0014	0	0.0057	0.0017	0	0.0012	0.0136	0.0063	0.0061	0.0002	0.05	0.39575	D	0.282	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	0.004949	0.33236	N	0.135740	0.818666	0.34743	D	1.75	0.45442	L	-1.79	0.83815	D	-2.0	0.46146	N	0.567	0.59053	-0.5627	0.66301	T	0.297	0.66867	T	10	0.009721637	0.00219	T	0.025352	0.48322	D	0.289	0.60808	.	.	0.889773523501	0.88869	0.25618946718022345	0.25532	.	.	0.598065972328	0.52631	T	0.443073	0.78700	T	-0.286318	0.10008	T	-0.174657	0.57015	T	0.00952088067982375	0.00123	T	0.839216	0.51320	T	0.06929695	0.15169	0.066059254	0.13479	0.06929695	0.15169	0.066059254	0.13478	-4.886	0.35577	T	0.13307475687638656	0.14248	0.083	0.09433	B	.	.	2.778162	0.36485	20.3	0.94580481384287529	0.25122	0.91930	0.54572	D	AEFBHI	0.156378	0.28173	N	-0.445340009290879	0.23899	1.286636	-0.277761325775103	0.28832	1.610663	0.353908257737698	0.19710	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.92	3.85	0.43556	1.827000	0.38740	2.733000	0.34404	-0.257000	0.07002	0.765000	0.29300	0.994000	0.32194	0.813000	0.38311	0.0:0.7318:0.1307:0.1375	8.050	0.29736	285	0.88719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.020202	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1404.43	42	chr22	41150154	.	C	A	1404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.002;DP=471;ExcessHet=0;FS=0.762;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.231;SOR=0.824	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr22	41177668	41177668	C	T	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon30:c.C5879T:p.P1960L,EP300:NM_001429:exon31:c.C5957T:p.P1986L	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	193837	not_provided|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|EP300-related_disorder	MedGen:C3661900|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.530	0.0651680743862	0.0002	0.000399361	0.0001	0.0002	0	0.0008	0	9.008e-05	0	6.057e-05	0.0001164	18	154602	rs144626200	0.0001	0.0001	0.0001	0.0001	0.0019	0.0001	0.0001	0.0015	0.0014	5.974e-05	2.236e-05	0	0.0019	0	0.0003	7.644e-05	0.0001	6.956e-05	0.0001	0.0001	0.0001	0.0001	0.0017	9.149e-05	7.704e-05	0.0009	0.0007	9.634e-05	0	0	0	0.0017	0	0	8.821e-05	0.0005	0.0002	0.002	0.72154	D	0.269	0.22426	T	0.707	0.42016	P	0.07	0.27859	B	0.000187	0.48115	D	0.000000	0.999981	0.54805	D	0	0.06538	N	-1.77	0.83660	D	-2.78	0.58896	D	0.241	0.27197	-0.3337	0.74026	T	0.377	0.73460	T	10	0.06782848	0.09507	T	0.065168	0.69499	D	0.530	0.80188	.	.	0.96811254239	0.96777	0.32907522848969234	0.32820	.	.	0.598594665527	0.52705	T	0.708065	0.91650	D	-0.0735545	0.40757	T	0.0264817	0.72048	D	0.101496444469703	0.12520	T	0.874113	0.58433	D	0.192003	0.40852	0.19229583	0.42735	0.192003	0.40852	0.19229583	0.42734	-4.389	0.29408	T	0.22479075339028512	0.30362	0.158	0.35034	B	.	.	3.895206	0.56705	23.8	0.99005125967742491	0.50231	0.95720	0.65868	D	AEFDBHCI	0.374337	0.45928	N	-0.0346021781631769	0.40293	2.390393	0.0396714604461606	0.41576	2.500083	0.999999999943203	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.32	5.32	0.75377	1.732000	0.37769	7.662000	0.64290	0.599000	0.40250	0.781000	0.29485	1.000000	0.68203	0.282000	0.24066	0.0:1.0:0.0:0.0	19.005	0.92823	255	0.89985	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1574.43	35	chr22	41177668	.	C	T	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=449;ExcessHet=0;FS=2.271;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.371;SOR=0.816	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1211	9	0	1	0
chr22	41238078	41238078	A	G	exonic	CHADL	.	nonsynonymous SNV	CHADL:NM_138481:exon3:c.T994C:p.S332P	.	452	1057	12	1	0	14	0.00657895	.	.	.	2347163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.557145678989	.	.	0	.	0	.	.	0	0	0	3.84e-05	1	26028	rs755194551	0.0002	0.0002	0.0001	0.0002	0.0038	0.0001	0.0001	0.0032	0.0030	0	0.0001	0	3.824e-05	0	0.0033	2.95e-05	0.0004	0.0038	0.0002	0.0002	0.0001	0.0003	0.0042	0.0002	0.0001	0.0028	0.0023	2.427e-05	0	0.0004	0	0.0004	0	0	5.952e-05	0.0005	0.0042	0.369	0.11586	T	0.165	0.30926	T	0.815	0.45525	P	0.274	0.40037	B	0.051785	0.22951	N	0.397144	1	0.08975	N	0.47	0.13106	N	0.22	0.59851	T	-0.09	0.08340	N	0.206	0.22870	-0.9785	0.35345	T	0.104	0.38243	T	10	0.044615835	0.03439	T	0.557146	0.95942	D	0.080	0.23350	0.315	0.29096	0.263140351381	0.25927	0.2954393941868553	0.29456	0.0445187300976	0.04807	0.871395349503	0.92767	D	0.002134	0.01537	T	-0.0684965	0.41567	T	-0.336167	0.40778	T	0.284155040979385	0.24345	T	0.552145	0.19060	T	0.08458383	0.19585	0.12655723	0.30478	0.08458383	0.19585	0.12655723	0.30477	-1.843	0.02640	T	.	.	0.225	0.45653	B	.	.	2.142989	0.27288	17.41	0.98117474734074439	0.38407	0.04016	0.09447	N	AEFDBCIJ	0.058885	0.11081	N	-0.444567700248682	0.23925	1.288218	-0.528128382001617	0.21391	1.15694	0.999998958435255	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.166054	0.03999	2	0.603991	0.37454	0	.	.	4.31	-2.29	0.06419	0.706000	0.25365	0.597000	0.19884	0.654000	0.53741	0.026000	0.20160	0.090000	0.22521	0.921000	0.45669	0.1998:0.6025:0.092:0.1057	5.635	0.16809	159	0.93837	Cysteine-rich flanking region, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	242.51	20	chr22	41238078	.	A	G	242.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.94;DP=182;ExcessHet=0;FS=0;InbreedingCoeff=-0.059;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.7;ReadPosRankSum=0.368;SOR=0.653	GT:AD:DP:GQ:PL	0/0:7,0:7:9:0,9,144	9	0	1	0
chr22	41586172	41586172	C	T	exonic	PMM1	.	nonsynonymous SNV	PMM1:NM_002676:exon2:c.G109A:p.A37T	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0745809131451	.	0.000199681	0.0001	9.796e-05	0.0002	0	0	4.538e-05	0	0.0005	9.7e-05	15	154602	rs542899408	7.883e-05	8.209e-05	6.412e-05	9.369e-05	0.0007	6.68e-05	6.214e-05	0.0005	0.0005	5.985e-05	0.0001	3.829e-05	0	0	0.0005	3.418e-05	0.0001	0.0007	5.254e-05	5.25e-05	6.426e-05	4.029e-05	0.0006	2.556e-05	1.829e-05	0.0002	9.003e-05	7.218e-05	0	0	0	0	0	0	2.941e-05	0	0.0006	0.263	0.16412	T	0.311	0.19660	T	0.0	0.02946	B	0.0	0.01387	B	0.172779	0.17327	N	0.579827	0.961079	0.26122	N	0.79	0.19579	N	-4.82	0.98198	D	-0.37	0.13226	N	0.29	0.32812	0.203	0.85960	D	0.799	0.93198	D	10	0.07840848	0.12493	T	0.074581	0.72077	D	0.258	0.56959	0.331	0.31681	0.923209768708	0.92242	0.33109612779718284	0.33022	0.343857825352	0.36312	0.406272530556	0.25940	T	0.690261	0.90987	D	-0.260927	0.12793	T	-0.260861	0.48738	T	0.0173662253853184	0.00475	T	0.489851	0.15048	T	0.034704678	0.03946	0.053919658	0.09175	0.034704678	0.03946	0.053919658	0.09175	-5.305	0.39993	T	.	.	0.081	0.08368	B	.	.	1.777443	0.22601	15.69	0.96056974389854899	0.28582	0.73038	0.35733	D	AEFBI	0.222293	0.34681	N	-0.88754881873684	0.11138	0.5358867	-0.780586264683251	0.14971	0.7850493	0.950279873373783	0.27887	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.18	1.96	0.25203	1.226000	0.32167	1.786000	0.28758	-0.860000	0.02636	0.548000	0.27330	0.928000	0.28476	0.485000	0.28678	0.0:0.6429:0.1339:0.2233	6.133	0.19432	107	0.95615	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1071.43	38	chr22	41586172	.	C	T	1071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.686;DP=419;ExcessHet=0;FS=0.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.758;SOR=0.796	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	9	0	1	0
chr22	41926277	41926277	C	A	exonic	TNFRSF13C	.	nonsynonymous SNV	TNFRSF13C:NM_052945:exon2:c.G191T:p.G64V	Immunodeficiency, common variable, 4, Autosomal recessive	14	1482	25	1	0	27	0.00902708	.	.	.	433978	not_provided|Immunodeficiency,_common_variable,_4	MedGen:C3661900|MONDO:MONDO:0013284,MedGen:C3150739,OMIM:613494,Orphanet:1572	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.030	.	.	0.00199681	0.0072	0.0045	0	0	0.0385	0.0190	0.0111	0.0031	0.0015524	240	154602	rs547352394	0.0107	0.0100	0.0109	0.0105	0.0180	0.0106	0.0105	0.0148	0.0136	0.0026	0.0029	0.0081	0	0.0112	0.0180	0.0121	0.0085	0.0024	0.0071	0.0071	0.0077	0.0065	0.0119	0.0068	0.0066	0.0112	0.0110	0.0019	0.0296	0.0020	0.0086	0.0002	0.0059	0.0548	0.0119	0.0076	0.0021	0.059	0.37536	T	0.007	0.69154	D	0.011	0.15914	B	0.008	0.13708	B	0.716831	0.06290	N	1.197160	0.99991	0.19694	N	1.795	0.47270	L	1.54	0.30133	T	-5.08	0.82896	D	0.329	0.36989	-1.0025	0.29197	T	0.046	0.19559	T	10	0.0050999224	0.00110	T	.	.	.	0.030	0.07022	.	.	0.043077524339	0.03247	0.21823140091659454	0.21739	2.12773366393	0.95105	0.886562466621	0.94825	D	0.436239	0.78270	T	-0.611609	0.00124	T	-0.638987	0.09743	T	0.0436186475804897	0.04351	T	0.466353	0.13696	T	0.24082784	0.46990	0.2816598	0.54149	0.24082784	0.46990	0.2816598	0.54148	-4.531	0.31292	T	.	.	0.176	0.38534	B	.	.	3.422904	0.47532	22.5	0.98457614893853174	0.41699	0.48203	0.28154	N	ALL	0.068657	0.13554	N	-0.818823518578959	0.12829	0.6279373	-0.812902956999267	0.14183	0.7397709	0.999999999999692	0.74766	0.623204	0.39778	0	0.52208	0.09955	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.16	0.969	0.18805	0.300000	0.18911	2.272000	0.31837	0.446000	0.21189	0.000000	0.06391	0.387000	0.24645	0.189000	0.21571	0.2398:0.6279:0.0:0.1322	3.756	0.08111	130	0.94779	.	RP1-257I20.14|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|NDUFA6|TNFRSF13C|NDUFA6|NDUFA6|NDUFA6|TNFRSF13C|NDUFA6	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Colon_Sigmoid|Colon_Transverse|Lung|Muscle_Skeletal|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Stomach|Thyroid|Whole_Blood|Whole_Blood	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020394	0.005435	0.027363	0.044643	0.000000	0.040541	0.003788	0.020202	0.05	582.43	31	chr22	41926277	.	C	A	582.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.363;DP=224;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.391;SOR=0.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:15,0:15:45:.:.:0,45,504:.	9	0	1	0
chr22	42127869	42127869	G	A	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon5:c.C805T:p.L269F,CYP2D6:NM_000106:exon6:c.C958T:p.L320F	.	.	.	.	.	.	.	.	.	.	.	3420149	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.0444875125525	.	0.000199681	3.307e-05	0	0	0	0	6.018e-05	0	0	3.23e-05	5	154602	rs141289473	2.809e-05	2.875e-05	3.408e-05	2.203e-05	5.997e-05	2.09e-05	1.881e-05	1.629e-05	1.384e-05	5.997e-05	0	0.0003	0	0	0	2.342e-05	9.954e-05	0	1.321e-05	1.315e-05	0	2.701e-05	2.951e-05	2.19e-06	8.2e-07	4.9e-06	1.83e-06	0	0	0	0	0	0	0	2.951e-05	0	0	0.249	0.17183	T	0.372	0.16376	T	.	.	.	.	.	.	0.012364	0.29198	N	0.290714	0.710761	0.30016	N	1.43	0.35840	L	-1.39	0.80387	T	-1.72	0.40850	N	0.12	0.12341	-0.5167	0.68039	T	0.370	0.72955	T	10	0.15510112	0.29241	T	0.044488	0.61512	D	0.083	0.24192	.	.	0.703703398174	0.70113	0.37556111801300057	0.37470	0.183019468109	0.20584	0.630135655403	0.57165	T	0.004095	0.19042	T	-0.1093	0.34885	T	-0.264328	0.48391	T	0.0812236443161964	0.10143	T	0.845715	0.52723	T	0.2515379	0.48163	0.2163878	0.46264	0.2515379	0.48163	0.2163878	0.46263	-5.254	0.41914	T	.	.	0.161	0.53300	B	.;.;.;.;.	.;.;.;.;.	2.258877	0.28859	17.94	0.99134606585577456	0.53356	0.69555	0.34234	D	AEFDGI	0.372583	0.45817	N	-0.190727706731438	0.33518	1.902592	-0.116003791237404	0.34743	2.002068	0.0023806286249498	0.09366	0.580535	0.33130	0	0.550933	0.16991	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.45	2.26	0.27418	2.196000	0.42320	3.750000	0.39681	0.595000	0.32841	0.682000	0.28457	1.000000	0.68203	0.219000	0.22435	0.3801:0.0:0.6199:0.0	5.823	0.17795	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1948.43	37	chr22	42127869	.	G	A	1948.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=837;ExcessHet=0;FS=2.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=2.35;SOR=0.867	GT:AD:DP:GQ:PL	0/0:48,0:48:99:0,120,1800	9	0	1	0
chr22	42128181	42128181	A	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.T683A:p.M228K,CYP2D6:NM_000106:exon5:c.T836A:p.M279K	.	2	1515	4	1	0	6	0.00197628	.	.	.	817952	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.321	.	.	0.00419329	0.0023	0.0003	0.0182	0	0	0	0	0.0051	0.0017464	270	154602	rs1135828	0.0010	0.0012	0.0008	0.0012	0.0114	0.0009	0.0009	0.0108	0.0105	0	0.0086	0	0.0002	0	0	1.083e-05	0.0011	0.0114	0.0010	0.0010	0.0006	0.0013	0.0161	0.0008	0.0008	0.0131	0.0120	0.0001	0	0.0040	0	0	0	0	1.503e-05	0.0005	0.0161	0.008	0.58626	D	0.021	0.60972	D	.	.	.	.	.	.	0.107920	0.19550	N	0.495958	0.999682	0.48270	D	1.74	0.45129	L	-0.11	0.64445	T	-4.41	0.77965	D	0.413	0.53181	-0.8752	0.50135	T	0.146	0.46967	T	10	0.010121793	0.00226	T	.	.	.	0.321	0.64318	.	.	0.588834294336	0.58558	0.7882639691376796	0.78778	0.183163157925	0.20599	0.341386795044	0.16645	T	0.025134	0.38968	T	-0.204384	0.20176	T	-0.0569654	0.66543	D	0.0681880821534846	0.08396	T	0.637336	0.25103	T	0.36416996	0.58151	0.341908	0.59924	0.36416996	0.58152	0.341908	0.59923	-6.928	0.53507	T	.	.	0.295	0.52614	B	.;.;.;.;.	.;.;.;.;.	3.172921	0.43041	21.7	0.95143471143796843	0.26268	0.55735	0.29939	D	AEFDI	0.650506	0.62459	D	-0.421261016782285	0.24725	1.337097	-0.320743469659828	0.27429	1.521972	0.0255723852043059	0.13657	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.4	3.28	0.36691	4.791000	0.62154	9.013000	0.78554	0.691000	0.84096	0.666000	0.28313	0.987000	0.30940	0.355000	0.25773	0.8373:0.1627:0.0:0.0	10.398	0.43398	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1201.43	37	chr22	42128181	.	A	T	1201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.64;DP=442;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.31;MQRankSum=-9.004;QD=12.39;ReadPosRankSum=-1.306;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr22	42128185	42128185	C	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon4:c.G679A:p.E227K,CYP2D6:NM_000106:exon5:c.G832A:p.E278K	.	2	1515	4	1	0	6	0.00197628	.	.	.	817953	Tramadol_response	MedGen:CN078023	no_assertion_criteria_provided	drug_response	.	.	.	.	.	.	.	.	0.329	.	.	0.00399361	0.0007	0	0	0	0	0	0	0.0051	0.0011526	30	26028	rs77913725	0.0007	0.0009	0.0005	0.0010	0.0115	0.0007	0.0007	0.0109	0.0107	0	2.265e-05	0	0.0002	0	0	9.019e-06	0.0009	0.0115	0.0005	0.0005	0.0002	0.0008	0.0152	0.0004	0.0004	0.0124	0.0114	9.816e-05	0	0	0	0	0	0	1.478e-05	0.0005	0.0152	0.01	0.56456	D	0.141	0.33442	T	.	.	.	.	.	.	0.000330	0.45700	D	0.148252	0.999976	0.53665	D	1.35	0.33515	L	-0.24	0.66834	T	-3.74	0.71042	D	0.426	0.50868	-0.7333	0.58796	T	0.252	0.62166	T	10	0.0071584284	0.00163	T	.	.	.	0.329	0.65126	0.598	0.72862	0.648949747153	0.64603	0.7808645444419238	0.78037	0.140136811154	0.15799	0.427451491356	0.28861	T	0.018513	0.37672	T	-0.121261	0.32916	T	-0.118472	0.61929	T	0.131292493978093	0.15501	T	0.791621	0.47040	T	0.4159809	0.61824	0.3414125	0.59881	0.4159809	0.61824	0.3414125	0.59880	-9.076	0.68184	D	.	.	0.273	0.52881	B	.;.;.;.;.	.;.;.;.;.	2.420013	0.31114	18.64	0.9975775541097498	0.84772	0.44473	0.27326	N	AEFDI	0.482620	0.52341	N	-0.473328352916868	0.22956	1.229463	-0.444953648382078	0.23692	1.293378	8.61634359655264E-4	0.07931	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.4	2.0	0.25495	0.365000	0.20076	-0.008000	0.13101	0.549000	0.26987	0.023000	0.19925	0.000000	0.08366	0.295000	0.24381	0.0:0.6826:0.3174:0.0	12.683	0.56296	106	0.95650	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1167.43	37	chr22	42128185	.	C	T	1167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.15;DP=444;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.54;MQRankSum=-8.928;QD=11.67;ReadPosRankSum=-1.111;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:40,0:40:99:.:.:0,99,1485:.	9	0	1	0
chr22	42128800	42128800	G	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.C497G:p.S166W,CYP2D6:NM_000106:exon4:c.C650G:p.S217W	.	1	1516	3	1	1	6	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0353281402425	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201501394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.63226	D	0.006	0.72224	D	.	.	.	.	.	.	0.610193	0.10874	N	0.809840	0.999998	0.08975	N	3.585	0.93597	H	-0.53	0.70833	T	-5.02	0.82511	D	0.407	0.44761	-0.5342	0.67382	T	0.525	0.82331	D	10	0.73166484	0.74340	D	0.035328	0.56271	D	0.377	0.69527	0.739	0.87147	0.797118731521	0.79523	0.6576490673856101	0.65701	0.62449848004	0.56654	0.281570315361	0.07713	T	0.018476	0.33252	T	0.0312242	0.55886	T	-0.192925	0.55316	T	0.853606224060059	0.50479	D	0.946705	0.79569	D	0.13943303	0.32209	0.06706871	0.13825	0.13943303	0.32209	0.06706871	0.13825	-7.435	0.57151	T	.	.	0.288	0.53610	B	.;.;.;.;.	.;.;.;.;.	2.245967	0.28682	17.88	0.98072392765842675	0.38038	0.15440	0.18913	N	AEFDBI	0.269854	0.38604	N	-0.121494686086378	0.36458	2.107586	-0.412024604287615	0.24644	1.350678	0.00190668887536416	0.08993	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.37	2.35	0.28166	0.231000	0.17651	-4.767000	0.01995	-0.241000	0.07509	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1349:0.0:0.8651:0.0	6.523	0.21482	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2518.43	218	chr22	42128800	.	G	C	2518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.88;DP=882;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.11;MQRankSum=0.194;QD=11.55;ReadPosRankSum=-0.182;SOR=0.717	GT:AD:DP:GQ:PL	0/0:59,0:59:99:0,120,1800	9	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.15	1737.45	37	chr22	42128812	.	A	G	1737.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.4;DP=1007;ExcessHet=0.7463;FS=13.924;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.79;MQRankSum=-8.092;QD=2.38;ReadPosRankSum=-4.665;SOR=2.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:59,0:59:99:.:.:0,120,1800:.	7	0	3	0
chr22	42143481	42143481	C	T	exonic	CYP2D7	.	unknown	UNKNOWN	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0011	0	0	0.0053	0.004	0.0011	0	0.0009	3.84e-05	1	26028	rs4987139	0.0004	0.0005	0.0004	0.0004	0.0025	0.0004	0.0004	0.0015	0.0012	0.0005	0.0005	3.931e-05	0.0016	0.0004	0.0025	0.0004	0.0005	0.0008	0.0005	0.0005	0.0004	0.0006	0.0023	0.0004	0.0004	0.0013	0.0010	0.0004	0	0.0003	0	0.0023	0.0004	0.0103	0.0004	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.800530	0.06766	N	1.107710	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.04072	-0.9561	0.39898	T	0.048	0.20632	T	8	0.0048719347	0.00104	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.00855	0.07843	T	-0.815897	0.00006	T	-0.949371	0.00264	T	0.0229050145701607	0.01012	T	0.394361	0.09853	T	0.03325054	0.03505	0.04795191	0.07020	0.03325054	0.03505	0.04795191	0.07019	-3.791	0.20670	T	.	.	0.080	0.08997	B	.;.	.;.	0.047556	0.04620	1.285	0.78165188309843625	0.12183	0.00151	0.00912	N	AEFGI	0.005706	0.00010	N	-2.19974811969637	0.00077	0.003290962	-2.31385125181725	0.00062	0.002710541	0.974647965769969	0.29560	0.092769	0.02424	0	0.130567	0.03505	0	0.072005	0.02045	0	0.079188	0.02158	0	.	.	3.55	-7.1	0.01394	-1.205000	0.03124	-15.477000	0.00355	-1.872000	0.00551	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3557:0.0:0.6443	12.327	0.54340	106	0.95650	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2059.43	35	chr22	42143481	.	C	T	2059.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.071;DP=438;ExcessHet=0;FS=5.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59;MQRankSum=-1.326;QD=17.75;ReadPosRankSum=1.34;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,55:116:99:0|1:42143481_C_T:2071,0,2286:42143481	9	0	1	0
chr22	42573996	42573996	G	A	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon10:c.G694A:p.V232M,SERHL2:NM_014509:exon12:c.G886A:p.V296M	.	430	1084	8	0	0	8	0.00367647	.	.	.	2383963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.384	0.0341924514892	.	.	0.0002	0	0.0003	0.0001	0	4.497e-05	0	0.0007	0.0001229	19	154602	rs754746774	0.0002	0.0002	0.0001	0.0002	0.0009	0.0002	0.0002	0.0008	0.0007	3.131e-05	2.36e-05	0	0.0001	0	0	0.0001	0.0002	0.0009	8.063e-05	7.97e-05	3.929e-05	0.0001	0.0013	4.591e-05	3.587e-05	0.0006	0.0004	4.897e-05	0	0	0	0.0002	0	0	4.469e-05	0	0.0013	0.0	0.91255	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000003	0.62929	D	0.000000	0.976405	0.58761	D	3.685	0.94485	H	-0.8	0.73845	T	-2.09	0.57275	N	0.273	0.49874	-0.2095	0.77427	T	0.515	0.81816	D	10	0.13664976	0.25998	T	0.034192	0.55504	D	0.384	0.70112	0.658	0.79585	0.403896168776	0.40002	0.41492812635463944	0.41408	0.0056557040718	0.00497	0.517875909805	0.41326	T	0.029448	0.21097	T	-0.158969	0.26919	T	-0.101962	0.63246	T	0.39264857288154	0.28665	T	0.627737	0.24333	T	0.28807154	0.51813	0.2577608	0.51498	0.28807154	0.51813	0.2577608	0.51497	-8.298	0.63082	D	.	.	0.359	0.57142	A	.;.;.	.;.;.	2.675347	0.34885	19.75	0.99540693313363526	0.70461	0.54383	0.29602	D	AEFDGBCI	0.105711	0.21114	N	0.0416566926404181	0.43761	2.662634	-0.22952283946443	0.30483	1.716746	0.00371688280736598	0.10248	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	3.97	-1.41	0.08473	2.055000	0.40971	0.506000	0.19038	0.520000	0.23804	0.989000	0.36753	0.044000	0.21668	0.010000	0.09038	0.1573:0.1326:0.5735:0.1366	3.446	0.07050	254	0.90023	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1450.43	51	chr22	42573996	.	G	A	1450.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.352;DP=462;ExcessHet=0;FS=3.279;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.75;MQRankSum=1.31;QD=11.89;ReadPosRankSum=0.918;SOR=0.455	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1485	9	0	1	0
chr22	42693749	42693749	G	A	exonic	A4GALT	.	nonsynonymous SNV	A4GALT:NM_001318038:exon3:c.C203T:p.T68I,A4GALT:NM_017436:exon3:c.C203T:p.T68I	NOR polyagglutination syndrome	434	1084	4	0	0	4	0.00184162	.	.	.	3047892	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.139	0.0349490304366	0.0002	.	0.0002	0.0001	0	0	0	5.461e-05	0	0.0011	0.0001358	21	154602	rs138624393	0.0001	0.0001	4.369e-05	0.0002	0.0014	9.013e-05	8.495e-05	0.0012	0.0011	0	2.247e-05	0	0	0	0.0007	1.442e-05	0.0002	0.0014	6.649e-05	6.59e-05	5.19e-05	8.183e-05	0.0006	3.556e-05	2.745e-05	0.0002	9.146e-05	2.444e-05	0	0.0002	0	0	0	0.0034	2.962e-05	0	0.0006	0.263	0.16412	T	0.158	0.31629	T	0.0	0.02946	B	0.0	0.01387	B	0.001503	0.00793	N	14.057900	1	0.08975	N	0.205	0.09354	N	-1.32	0.79761	T	-0.7	0.19933	N	0.12	0.11340	-0.9043	0.47527	T	0.213	0.57361	T	10	0.014195502	0.00299	T	0.034949	0.56019	D	0.139	0.37390	.	.	0.374970422459	0.37104	0.20409890434069342	0.20326	0.355704073165	0.37328	0.244355797768	0.03197	T	0.211447	0.57222	T	-0.452129	0.01097	T	-0.462762	0.26298	T	0.025397695315313	0.01324	T	0.282772	0.04965	T	0.030589743	0.02750	0.020435588	0.00136	0.030589743	0.02750	0.020435588	0.00136	-4.961	0.36414	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.195260	0.03114	0.496	0.20128296514327737	0.00710	0.06922	0.12948	N	AEFDBI	0.079287	0.16012	N	-1.57322005863349	0.01404	0.06120057	-1.68757035226395	0.01193	0.05371005	0.999999997379293	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.55	-9.1	0.00610	0.495000	0.22191	-0.946000	0.06830	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1488:0.3896:0.1658:0.2958	2.589	0.04545	520	0.74355	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000507	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1898.43	41	chr22	42693749	.	G	A	1898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.23;DP=609;ExcessHet=0;FS=1.314;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.527;SOR=0.642	GT:AD:DP:GQ:PL	0/0:80,0:80:99:0,120,1800	9	0	1	0
chr22	42876169	42876169	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1193C:p.G398A,PACSIN2:NM_001349974:exon9:c.G1076C:p.G359A,PACSIN2:NM_001184970:exon10:c.G1316C:p.G439A,PACSIN2:NM_001349968:exon10:c.G1199C:p.G400A,PACSIN2:NM_001349971:exon10:c.G1199C:p.G400A,PACSIN2:NM_001349972:exon10:c.G1199C:p.G400A,PACSIN2:NM_001349973:exon10:c.G1199C:p.G400A,PACSIN2:NM_007229:exon10:c.G1316C:p.G439A,PACSIN2:NM_001349969:exon11:c.G1322C:p.G441A,PACSIN2:NM_001349970:exon11:c.G1322C:p.G441A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.331	0.0254803859673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.163	0.36101	T	0.163	0.28433	B	0.275	0.40079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-1.25	0.00764	N	0.93	0.44065	T	-5.05	0.82700	D	0.881	0.88246	-1.0312	0.20066	T	0.078	0.30982	T	10	0.46578756	0.59561	T	0.02548	0.48447	D	0.331	0.65325	0.59	0.71874	0.494299846589	0.49065	0.8212394961090356	0.82080	1.14006450707	0.78893	0.730294823647	0.71549	T	0.218106	0.58073	T	0.0853842	0.62666	D	-0.115128	0.62199	T	0.993790447711945	0.84746	D	0.963804	0.86758	D	0.64337987	0.75011	0.45086116	0.68045	0.64337987	0.75013	0.45086116	0.68046	-8.064	0.61506	D	.	.	0.6	0.68879	P	.;.;.;.;.;.	.;.;.;.;.;.	4.018423	0.59328	24.1	0.99759516428132045	0.84931	0.99027	0.90159	D	AEFDBHI	0.888467	0.82160	D	0.0270718389996554	0.43088	2.608705	0.19236442317033	0.49428	3.146068	0.999999999995945	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	7.505000	0.80519	7.475000	0.59195	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:1.0:0.0:0.0	18.415	0.90512	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	113.25	33	chr22	42876169	.	C	G	113.25	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.796;DP=422;ExcessHet=0;FS=63.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=2.8;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1400:.	9	0	1	0
chr22	42876170	42876170	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1192C:p.G398R,PACSIN2:NM_001349974:exon9:c.G1075C:p.G359R,PACSIN2:NM_001184970:exon10:c.G1315C:p.G439R,PACSIN2:NM_001349968:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349971:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349972:exon10:c.G1198C:p.G400R,PACSIN2:NM_001349973:exon10:c.G1198C:p.G400R,PACSIN2:NM_007229:exon10:c.G1315C:p.G439R,PACSIN2:NM_001349969:exon11:c.G1321C:p.G441R,PACSIN2:NM_001349970:exon11:c.G1321C:p.G441R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.0530753557218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.046	0.83351	D	0.984	0.60733	D	0.949	0.68658	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.37	0.34214	L	0.71	0.51228	T	-6.91	0.93329	D	0.967	0.97750	-0.5260	0.67692	T	0.279	0.65079	T	10	0.8409664	0.83253	D	0.053075	0.65324	D	0.432	0.73807	0.698	0.83499	0.717345707198	0.71486	0.9082068975641326	0.90793	1.20414093018	0.80632	0.800867199898	0.82094	T	0.251894	0.65675	T	0.292036	0.82323	D	0.181713	0.82095	D	0.998328506946564	0.93833	D	0.964504	0.87464	D	0.8715425	0.88984	0.8007015	0.88313	0.8715425	0.88985	0.8007015	0.88314	-10.858	0.78873	D	.	.	0.980	0.91062	P	.;.;.;.;.;.	.;.;.;.;.;.	4.850563	0.79284	27.1	0.99923753845000329	0.98917	0.99027	0.90159	D	AEFDBHI	0.910423	0.86832	D	0.735828190663937	0.81979	7.650927	0.703653582705833	0.82657	7.821377	0.999999999995945	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	4.65	0.57626	7.505000	0.80519	5.792000	0.49877	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:1.0:0.0:0.0	18.415	0.90512	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	122.01	57	chr22	42876170	.	C	G	122.01	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-0.997;DP=540;ExcessHet=0.2348;FS=63.084;InbreedingCoeff=-0.1896;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=2.44;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1400:.	6	0	2	2
chr22	42876171	42876171	C	G	exonic	PACSIN2	.	nonsynonymous SNV	PACSIN2:NM_001184971:exon9:c.G1191C:p.E397D,PACSIN2:NM_001349974:exon9:c.G1074C:p.E358D,PACSIN2:NM_001184970:exon10:c.G1314C:p.E438D,PACSIN2:NM_001349968:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349971:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349972:exon10:c.G1197C:p.E399D,PACSIN2:NM_001349973:exon10:c.G1197C:p.E399D,PACSIN2:NM_007229:exon10:c.G1314C:p.E438D,PACSIN2:NM_001349969:exon11:c.G1320C:p.E440D,PACSIN2:NM_001349970:exon11:c.G1320C:p.E440D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00861372167055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	0.09866	T	0.57	0.10930	T	0.002	0.09854	B	0.008	0.13708	B	0.000008	0.62929	N	0.142987	0.999992	0.58761	D	0.745	0.18958	N	0.8	0.48769	T	-0.66	0.20145	N	0.353	0.41557	-1.0846	0.06480	T	0.054	0.22770	T	10	0.09133887	0.15991	T	0.008614	0.22755	T	0.104	0.29647	0.383	0.40134	0.270001397563	0.26616	0.5478621391655023	0.54712	0.331067288021	0.35186	0.692147135735	0.66015	T	0.050046	0.28483	T	-0.197532	0.21160	T	-0.521518	0.20141	T	0.284930050373077	0.24378	T	0.681032	0.40135	T	0.07302861	0.16289	0.05882683	0.10938	0.07302861	0.16289	0.05882683	0.10938	-4.183	0.28163	T	.	.	0.114	0.29806	B	.;.;.;.;.;.	.;.;.;.;.;.	0.300918	0.06766	3.282	0.97610557482568283	0.34904	0.19696	0.20760	N	AEFDBHI	0.146058	0.26942	N	-1.07765627730981	0.07057	0.3266908	-0.966091899784433	0.10552	0.5321817	0.964408446714129	0.28757	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	4.65	-0.306	0.12147	-1.821000	0.01807	-0.631000	0.08125	-0.187000	0.09635	0.001000	0.13787	0.028000	0.21151	0.900000	0.43643	0.0:0.6498:0.0:0.3502	12.342	0.54424	749	0.51929	SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain|SH3 domain|SH3 domain|SH3 domain|PACSIN1/PACSIN2, SH3 domain;SH3 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	119.17	40	chr22	42876171	.	C	G	119.17	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.904;DP=487;ExcessHet=0.2348;FS=63.084;InbreedingCoeff=-0.1088;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=2.47;SOR=6.447	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:39,0:39:99:.:.:0,99,1400:.	8	0	2	0
chr22	43124099	43124099	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon2:c.C77T:p.T26I	.	429	1079	13	1	0	15	0.0069029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	0.0083	0.00279553	0.0083	0.0019	0.0025	0.0002	0.0210	0.0105	0.0121	0.0059	0.0080529	1245	154602	rs11090143	0.0098	0.0098	0.0097	0.0098	0.0104	0.0097	0.0096	0.0103	0.0102	0.0019	0.0029	0.0026	7.557e-05	0.0232	0.0029	0.0104	0.0090	0.0077	0.0075	0.0075	0.0075	0.0075	0.0105	0.0071	0.0070	0.0099	0.0096	0.0019	0.0022	0.0033	0.0026	0.0002	0.0235	0	0.0105	0.0066	0.0050	0.039	0.42487	D	0.079	0.42086	T	0.051	0.22415	B	0.048	0.24975	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.92	0.23082	T	-1.69	0.40274	N	0.1	0.08227	-0.9956	0.31136	T	0.015	0.05897	T	9	0.0035405755	0.00063	T	.	.	.	0.019	0.03383	.	.	0.143124449307	0.13826	0.030796811608915953	0.03028	0.0923363113691	0.10425	0.284139275551	0.08076	T	0.140903	0.47568	T	-0.708882	0.00032	T	-0.780649	0.02433	T	0.0135060138231187	0.00247	T	0.348865	0.07732	T	0.04954497	0.08812	0.043538105	0.05439	0.04954497	0.08812	0.043538105	0.05438	-3.591	0.17727	T	.	.	0.210	0.43707	B	.	.	0.426402	0.07970	4.681	0.99461169962531915	0.65788	0.01242	0.04380	N	AEFDBI	0.027895	0.02361	N	-1.34130423540383	0.03215	0.1432762	-1.44065222837804	0.02856	0.1321483	0.99934780394985	0.39222	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.55	-2.62	0.05793	-0.887000	0.04260	-0.612000	0.08217	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.193:0.3557:0.1897:0.2616	0.524	0.00576	809	0.43032	.	.	.	.	.	rs11090143	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1484.43	131	chr22	43124099	.	C	T	1484.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=446;ExcessHet=0;FS=2.216;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.589;SOR=0.646	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	9	0	1	0
chr22	43159279	43159279	C	T	exonic	TSPO	.	nonsynonymous SNV	TSPO:NM_000714:exon2:c.C41T:p.A14V,TSPO:NM_001256530:exon2:c.C41T:p.A14V,TSPO:NM_001256531:exon2:c.C41T:p.A14V	.	424	1092	6	0	0	6	0.00273973	.	.	.	717496	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.076	.	0.0017	0.000998403	0.0035	0	0	0	0	0.0050	0.0132	0.0032	0.0011966	185	154602	rs187866832	0.0025	0.0025	0.0025	0.0025	0.0029	0.0024	0.0024	0.0028	0.0027	0.0006	0.0007	0.0001	5.497e-05	0.0005	0.0012	0.0029	0.0017	0.0029	0.0015	0.0015	0.0016	0.0014	0.0025	0.0014	0.0013	0.0022	0.0021	0.0007	0	0.0011	0	0.0002	9.409e-05	0	0.0025	0.0014	0.0017	0.328	0.14645	T	0.347	0.17640	T	0.004	0.12183	B	0.003	0.08700	B	0.283718	0.14897	N	0.660844	1	0.08975	N	.	.	.	1.01	0.41058	T	1.42	0.00846	N	0.074	0.04790	-1.0458	0.15592	T	0.033	0.14117	T	10	0.009313464	0.00210	T	.	.	.	0.076	0.22200	.	.	0.0482279557977	0.04254	0.10879833319805587	0.10808	0.214014092029	0.23928	0.367172718048	0.20426	T	0.003149	0.02556	T	-0.684004	0.00045	T	-0.75709	0.03218	T	0.00154720271831872	0.00016	T	0.614539	0.24845	T	0.02948194	0.02450	0.055886913	0.09886	0.02948194	0.02450	0.055886913	0.09885	-3.875	0.21928	T	.	.	0.069	0.05535	B	.;.;.;.	.;.;.;.	0.425206	0.07959	4.668	0.92481344580476355	0.21912	0.02152	0.06328	N	AEFBCI	0.028731	0.02587	N	-1.40272070203532	0.02615	0.1157139	-1.37777533153695	0.03490	0.1629015	0.844556457785788	0.24929	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.28	-1.96	0.07113	0.166000	0.16400	-2.744000	0.03406	-1.619000	0.00871	0.558000	0.27409	0.000000	0.08366	0.114000	0.18915	0.0:0.1833:0.0:0.8167	10.984	0.46727	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001035	0.000000	0.000000	0.000000	0.000000	0.008772	0.000000	0.003846	0.05	280.43	46	chr22	43159279	.	C	T	280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.101;DP=344;ExcessHet=0;FS=1.219;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.1;ReadPosRankSum=1.25;SOR=0.484	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1260	9	0	1	0
chr22	43222689	43222689	C	A	exonic	SCUBE1	.	nonsynonymous SNV	SCUBE1:NM_173050:exon12:c.G1381T:p.A461S	.	.	.	.	.	.	.	.	.	.	.	2819645	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.191	.	0.0078	0.00259585	0.0101	0.0013	0.0068	0	0.0266	0.0150	0.0191	0.0007	0.0062548	967	154602	rs148458324	0.0086	0.0086	0.0088	0.0085	0.0099	0.0085	0.0084	0.0098	0.0097	0.0015	0.0048	0.0033	0	0.0115	0.0005	0.0099	0.0082	0.0008	0.0069	0.0069	0.0067	0.0071	0.0114	0.0065	0.0064	0.0107	0.0105	0.0013	0	0.0059	0.0029	0	0.0097	0.0204	0.0114	0.0047	0.0008	0.728	0.03834	T	0.812	0.03921	T	0.0	0.02946	B	0.001	0.04355	B	0.605376	0.10918	N	0.847688	0.999989	0.18198	N	0.64	0.16041	N	-1.91	0.84701	D	0.17	0.05125	N	0.124	0.11626	-0.9013	0.47857	T	0.159	0.49228	T	10	0.0034600794	0.00061	T	.	.	.	0.191	0.46948	.	.	0.496990393407	0.49334	0.10792654409032168	0.10721	0.118087529541	0.13296	0.23724129796	0.02547	T	0.039613	0.25250	T	-0.539652	0.00336	T	-0.536918	0.18600	T	6.78933502058499e-05	0.00001	T	0.593441	0.21910	T	0.04204918	0.06304	0.03674438	0.03182	0.04204918	0.06304	0.03674438	0.03181	-3.705	0.19392	T	.	.	0.066	0.02145	B	.	.	-0.608563	0.01548	0.101	0.39279338805310293	0.02701	0.12143	0.17086	N	AEFDBCI	0.105545	0.21087	N	-1.50251163103726	0.01833	0.08038085	-1.45736851483141	0.02704	0.1248541	0.783797137851401	0.23892	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.16	-1.2	0.09062	-0.984000	0.03865	-0.087000	0.12105	-0.206000	0.08541	0.000000	0.06391	0.001000	0.17328	0.008000	0.08271	0.2337:0.4632:0.0:0.3031	6.171	0.19634	682	0.59757	.	RRP7A|TTLL12|RRP7A|RRP7BP|RRP7BP|TTLL12|TTLL12|TTLL12|TTLL12|TTLL12|TTLL12	Adipose_Subcutaneous|Cells_Cultured_fibroblasts|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Lung|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	rs148458324	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001517	0.005102	0.004087	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	683.43	40	chr22	43222689	.	C	A	683.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=386;ExcessHet=0;FS=2.245;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.38;SOR=1.091	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1062	9	0	1	0
chr22	43339179	43339179	T	C	exonic	SCUBE1	.	nonsynonymous SNV	SCUBE1:NM_173050:exon2:c.A145G:p.I49V	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0429586923884	0.0044	0.00259585	0.0036	0.0012	0.0070	0	0.0002	0.0050	0.0022	0.0008	0.0040232	622	154602	rs41307223	0.0058	0.0058	0.0059	0.0056	0.0067	0.0057	0.0056	0.0066	0.0065	0.0013	0.0066	0.0047	2.519e-05	0.0008	0.0024	0.0067	0.0057	0.0014	0.0036	0.0036	0.0038	0.0034	0.0059	0.0034	0.0033	0.0051	0.0049	0.0010	0	0.0059	0.0066	0	0.0005	0	0.0055	0.0066	0.0002	0.128	0.32453	T	0.212	0.26549	T	0.576	0.38723	P	0.491	0.47360	P	0.000468	0.44119	D	0.153757	0.713825	0.38165	D	0.31	0.10265	N	-2.62	0.90017	D	-0.46	0.18042	N	0.424	0.50146	-0.1767	0.78263	T	0.528	0.82443	D	10	0.023702234	0.00628	T	0.042959	0.60734	D	0.310	0.63162	.	.	0.668504534348	0.66570	0.31666423516101494	0.31579	0.564018394391	0.52809	0.601668417454	0.53140	T	0.250563	0.62068	T	-0.341728	0.05269	T	-0.25425	0.49397	T	0.0319113684244572	0.02292	T	0.842116	0.51891	T	0.07546713	0.17005	0.08004372	0.18072	0.07546713	0.17005	0.08004372	0.18072	-5.165	0.38584	T	.	.	0.109	0.20934	B	.;.;.	.;.;.	3.918274	0.57191	23.8	0.99589753804653647	0.73513	0.85321	0.44443	D	AEFDGBI	0.383883	0.46522	N	-0.0903113963266658	0.37817	2.20565	-0.0282576151071083	0.38443	2.265059	0.0755478525238884	0.15700	0.516011	0.20929	0	0.563428	0.19063	0	0.584781	0.30282	0	0.586402	0.36253	0	.	.	4.44	3.38	0.37806	1.780000	0.38264	4.118000	0.41957	0.663000	0.56723	0.989000	0.36753	1.000000	0.68203	0.998000	0.85391	0.151:0.0:0.0:0.849	10.071	0.41505	742	0.52873	EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF domain|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2458.43	34	chr22	43339179	.	T	C	2458.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.461;DP=510;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.237;SOR=0.785	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1278	9	0	1	0
chr22	43537405	43537406	CT	-	exonic	EFCAB6	.	frameshift deletion	EFCAB6:NM_198856:exon27:c.3563_3564del:p.Q1188Rfs*43,EFCAB6:NM_022785:exon29:c.4019_4020del:p.Q1340Rfs*43	.	434	1082	6	0	0	6	0.00276498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0059	0.00559105	0.0070	0.0010	0.0026	0.0107	0.0136	0.0091	0.0088	0.0008	0.001191	31	26028	rs3833393	0.0060	0.0060	0.0058	0.0062	0.0101	0.0059	0.0059	0.0093	0.0090	0.0012	0.0033	0.0042	0.0101	0.0151	0.0050	0.0061	0.0057	0.0011	0.0067	0.0067	0.0064	0.0070	0.0147	0.0064	0.0062	0.0121	0.0111	0.0013	0.0110	0.0041	0.0055	0.0147	0.0151	0.0170	0.0090	0.0061	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007056	0.015152	0.009511	0.005848	0.000000	0.000000	0.003049	0.003788	0.05	1475.39	33	chr22	43537404	.	CCT	C	1475.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.005;DP=414;ExcessHet=0;FS=1.62;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.007;SOR=0.902	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1042	9	0	1	0
chr22	43668979	43668979	T	C	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon14:c.A1251G:p.I417M,EFCAB6:NM_022785:exon16:c.A1707G:p.I569M	.	432	1082	8	0	0	8	0.00368324	.	.	.	2778107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00135067105522	0.0009	0.000399361	0.0003	0.0022	0	0	0	0.0001	0	6.057e-05	0.0002199	34	154602	rs145207977	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	9.973e-05	0.0020	0.0019	0.0024	0.0002	0	0	0	0.0007	4.948e-05	0.0002	0.0002	0.0005	0.0005	0.0004	0.0006	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0	0.0001	0	0	0	0.0034	2.939e-05	0	0	0.28	0.17821	T	0.321	0.19073	T	0.005	0.12996	B	0.021	0.19346	B	0.385040	0.04443	N	1.367690	1	0.08975	N	0.09	0.08384	N	1.0	0.41392	T	-0.58	0.17417	N	0.17	0.18103	-1.0338	0.19236	T	0.034	0.14509	T	10	0.0091484785	0.00207	T	0.001351	0.01936	T	0.071	0.20720	.	.	0.206339911435	0.20273	0.15748144635412276	0.15669	0.0553457390412	0.06125	0.261881053448	0.05117	T	0.002625	0.02014	T	-0.698719	0.00037	T	-0.781986	0.02394	T	0.013556022078353	0.00249	T	0.380662	0.09189	T	0.060081076	0.12286	0.04823514	0.07123	0.060081076	0.12285	0.04823514	0.07122	-4.503	0.35633	T	.	.	0.062	0.04041	B	.;.	.;.	-1.480321	0.00307	0.005	0.087601175916635202	0.00075	0.00660	0.02859	N	AEFI	0.060162	0.11414	N	-2.20717203241649	0.00074	0.003162222	-2.30085149022259	0.00066	0.002902564	0.999992603108497	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-9.94	0.00371	-2.825000	0.00815	-5.106000	0.01847	-0.126000	0.13398	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.307:0.1844:0.2234:0.2852	0.061	0.00014	923	0.18507	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.000000	0.05	446.43	68	chr22	43668979	.	T	C	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.102;DP=377;ExcessHet=0;FS=0.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=-1.817;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,963	9	0	1	0
chr22	43716927	43716927	C	T	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon7:c.G347A:p.R116H,EFCAB6:NM_022785:exon9:c.G803A:p.R268H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00175234999014	0.0003	0.000599042	3.308e-05	0.0003	8.667e-05	0	0	0	0	0	4.53e-05	7	154602	rs147122126	1.824e-05	1.779e-05	1.811e-05	1.838e-05	0.0005	1.269e-05	1.078e-05	0.0003	0.0003	0.0005	0	0	0	1.891e-05	0.0002	3.65e-06	1.698e-05	2.582e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	1.471e-05	0	0	0.552	0.18122	T	0.146	0.33000	T	0.006	0.13644	B	0.003	0.08700	B	0.083368	0.02378	N	1.965940	1	0.08975	N	0.315	0.10303	N	2.53	0.30937	T	-0.21	0.11366	N	0.038	0.03283	-1.0332	0.19427	T	0.043	0.18618	T	10	0.014961451	0.00314	T	0.001752	0.02960	T	0.010	0.01040	.	.	0.0762999501168	0.06990	0.10833851835732601	0.10762	0.0647259842314	0.07223	0.205652922392	0.00640	T	0.00192	0.01337	T	-0.654032	0.00068	T	-0.79528	0.02023	T	0.00893086520400332	0.00111	T	0.518348	0.16810	T	0.01569159	0.00152	0.021333128	0.00189	0.01569159	0.00152	0.021333128	0.00188	-3.911	0.22467	T	.	.	0.066	0.04002	B	.;.;.	.;.;.	-1.757004	0.00172	0.003	0.7896240202416076	0.12529	0.00165	0.00980	N	AEFBI	0.035739	0.04649	N	-1.4500401624287	0.02216	0.0976216	-1.59986192844343	0.01656	0.07518209	0.191302074556226	0.18003	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.52	-6.48	0.01726	-1.581000	0.02223	-8.831000	0.00907	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.1429:0.6203:0.0:0.2368	6.977	0.23863	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	567.43	35	chr22	43716927	.	C	T	567.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.608;DP=383;ExcessHet=0;FS=3.724;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=2.12;SOR=0.333	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1014	9	0	1	0
chr22	43716966	43716966	G	A	exonic	EFCAB6	.	nonsynonymous SNV	EFCAB6:NM_198856:exon7:c.C308T:p.S103L,EFCAB6:NM_022785:exon9:c.C764T:p.S255L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.00382281226393	0.0002	0.000599042	4.245e-05	0.0003	8.694e-05	0	0	1.522e-05	0	0	5.17e-05	8	154602	rs140710834	1.514e-05	1.779e-05	1.57e-05	1.456e-05	0.0005	9.73e-06	8.26e-06	0.0003	0.0003	0.0005	0	0	0	1.929e-05	0.0002	1.857e-06	0	1.424e-05	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0	0	0.085	0.32769	T	0.08	0.41913	T	0.022	0.31830	B	0.004	0.18140	B	0.628919	0.10706	N	0.786837	1	0.08975	N	1.545	0.39105	L	2.47	0.32238	T	-1.22	0.30964	N	0.134	0.14054	-1.0508	0.14175	T	0.040	0.17191	T	10	0.027482957	0.00894	T	0.003823	0.08930	T	0.010	0.01040	.	.	0.319686207203	0.31575	0.1486478235031512	0.14786	0.0538018748346	0.05943	0.320154309273	0.13445	T	0.002215	0.01614	T	-0.571006	0.00218	T	-0.676019	0.07228	T	0.0122786471620202	0.00199	T	0.770723	0.40088	T	0.053326912	0.10075	0.08027486	0.18146	0.053326912	0.10074	0.08027486	0.18145	-3.172	0.15959	T	.	.	0.072	0.06295	B	.;.;.	.;.;.	0.912022	0.12864	9.377	0.9711074812602033	0.32409	0.03569	0.08779	N	AEFBI	0.066185	0.12948	N	-0.822676152049629	0.12732	0.6224954	-0.894824991675551	0.12216	0.627079	9.88824216422676E-4	0.08091	0.553676	0.25195	0	0.59043	0.45803	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	3.9	1.81	0.24139	0.251000	0.18025	1.893000	0.29531	0.618000	0.50648	0.000000	0.06391	0.010000	0.20010	0.019000	0.11356	0.2277:0.0:0.7723:0.0	6.211	0.19841	922	0.19044	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	559.43	41	chr22	43716966	.	G	A	559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.252;DP=380;ExcessHet=0;FS=15.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-1.119;SOR=0.029	GT:AD:DP:GQ:PL	0/0:32,0:32:81:0,81,1215	9	0	1	0
chr22	43981460	43981460	A	G	exonic	SAMM50	.	nonsynonymous SNV	SAMM50:NM_015380:exon11:c.A1006G:p.R336G	.	.	.	.	.	.	.	.	0.1094	0.462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.0657227945957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.998	0.73220	D	0.96	0.70309	D	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	3.005	0.85968	M	0.75	0.50192	T	-4.9	0.81514	D	0.967	0.97750	-0.5462	0.66930	T	0.311	0.68094	T	10	0.941803	0.93505	D	0.065723	0.69664	D	0.457	0.75551	0.793	0.91438	0.750199644012	0.74794	0.9330939661303611	0.93288	0.872656408786	0.69455	0.84783667326	0.89287	D	0.264585	0.63638	T	0.276898	0.81049	D	0.159968	0.80804	D	0.994433462619781	0.85721	D	0.957304	0.83911	D	0.8322926	0.86063	0.714973	0.83178	0.8322926	0.86064	0.714973	0.83179	-12.142	0.85536	D	.	.	0.846	0.79563	P	.	.	3.570199	0.50282	22.9	0.99434715645601779	0.64472	0.98339	0.81784	D	AEFBI	0.853939	0.77093	D	0.281068212351746	0.55189	3.68317	0.106182645707031	0.44865	2.760003	0.00148793294782743	0.08576	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	2.78	0.31702	4.794000	0.62175	4.893000	0.45784	0.750000	0.87069	1.000000	0.71638	0.999000	0.35428	0.119000	0.19126	0.6368:0.3632:0.0:0.0	10.399	0.43402	798	0.45050	Bacterial surface antigen (D15)	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1596.43	136	chr22	43981460	.	A	G	1596.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.881;DP=478;ExcessHet=0;FS=3.085;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-2.296;SOR=0.519	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,102,1530	9	0	1	0
chr22	44845325	44845325	C	G	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon8:c.C653G:p.T218R,ARHGAP8:NM_181335:exon8:c.C653G:p.T218R,ARHGAP8:NM_001017526:exon9:c.C746G:p.T249R,PRR5-ARHGAP8:NM_181334:exon11:c.C1046G:p.T349R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00539301862585	.	0.000399361	0.0002	9.615e-05	0	0	0	0	0	0.0011	0.0001358	21	154602	rs145431642	8.346e-05	8.345e-05	5.989e-05	0.0001	0.0011	7.136e-05	6.684e-05	0.0009	0.0009	8.961e-05	4.472e-05	0	0	0	0.0003	1.529e-05	3.312e-05	0.0011	5.91e-05	5.906e-05	6.425e-05	5.373e-05	0.0010	3.076e-05	2.209e-05	0.0004	0.0003	2.407e-05	0	0	0	0.0004	0	0	1.47e-05	0	0.0010	0.386	0.16358	T	0.342	0.20293	T	0.69	0.66517	P	0.289	0.64797	B	0.006145	0.32237	U	0.000000	0.844081	0.28590	N	0.49	0.13296	N	2.24	0.17923	T	-1.75	0.45949	N	0.674	0.68169	-1.0352	0.18794	T	0.033	0.14334	T	10	0.09463295	0.16840	T	0.005393	0.13832	T	0.154	0.40340	0.461	0.52916	0.18274738541	0.17906	0.5818524812085284	0.62814	.	.	0.554955005646	0.46555	T	0.033028	0.22741	T	-0.316806	0.07162	T	-0.288444	0.45936	T	0.0476152077317238	0.05074	T	0.844516	0.53646	T	0.17005074	0.37557	0.25028655	0.50616	0.17005074	0.37557	0.25028655	0.50615	-4.614	0.36633	T	.	.	0.101	0.36712	B	.;.;.;.;.	.;.;.;.;.	4.014833	0.59257	24.1	0.99079652325223466	0.51930	0.69534	0.34226	D	AEFDBI	0.233224	0.35618	N	-0.320652415185496	0.28364	1.563885	-0.212445041178614	0.31088	1.756168	0.991232278584707	0.32418	0.626454	0.40138	0	0.547309	0.14657	0	0.80507	0.99327	0	0.564101	0.26826	0	.	.	3.95	3.95	0.44952	1.581000	0.36167	2.808000	0.34891	0.599000	0.40250	0.877000	0.30928	0.994000	0.32194	0.839000	0.39591	0.0:1.0:0.0:0.0	13.059	0.58404	987	0.02648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	677.43	35	chr22	44845325	.	C	G	677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.67;DP=401;ExcessHet=0;FS=4.322;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.53;ReadPosRankSum=-0.35;SOR=1.21	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1184	9	0	1	0
chr22	44916594	44916594	C	T	exonic	PHF21B	.	nonsynonymous SNV	PHF21B:NM_001242450:exon4:c.G214A:p.V72I,PHF21B:NM_138415:exon4:c.G250A:p.V84I,PHF21B:NM_001135862:exon5:c.G250A:p.V84I	.	421	1088	12	1	0	14	0.00639269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0104042366725	0.0043	0.00179712	0.0036	0.0009	0.0035	0	0.0027	0.0051	0.0058	0.0015	0.003965	613	154602	rs138308961	0.0049	0.0049	0.0049	0.0048	0.0076	0.0048	0.0048	0.0058	0.0055	0.0010	0.0034	0.0036	0.0001	0.0027	0.0076	0.0056	0.0042	0.0015	0.0039	0.0039	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0010	0	0.0037	0.0052	0.0010	0.0025	0.0034	0.0064	0.0024	0.0023	0.213	0.19430	T	1.0	0.03286	T	0.002	0.09854	B	0.001	0.04355	B	0.525238	0.11697	N	0.752021	1	0.08975	N	-0.695	0.01866	N	1.79	0.26588	T	-0.48	0.15379	N	0.09	0.06854	-0.9591	0.39349	T	0.017	0.07187	T	10	0.0038067102	0.00071	T	0.010404	0.26893	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.1004894143022053	0.09979	0.221649798542	0.24701	0.321861863136	0.13703	T	0.002552	0.01944	T	-0.573847	0.00210	T	-0.593343	0.13378	T	0.00159362167491895	0.00016	T	0.708829	0.33695	T	0.027578209	0.01969	0.025226051	0.00561	0.027578209	0.01969	0.025226051	0.00561	-4.674	0.33088	T	.	.	0.075	0.09530	B	.;.;.;.	.;.;.;.	0.112492	0.05115	1.646	0.7899496041791233	0.12543	0.27577	0.23316	N	AEFDBI	0.052872	0.09477	N	-1.13130737173451	0.06093	0.2795663	-1.02488837871269	0.09239	0.4585332	0.996356704372072	0.34689	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.06	-4.81	0.02948	0.705000	0.25350	-5.986000	0.01532	-0.828000	0.02899	0.994000	0.38300	0.000000	0.08366	0.908000	0.44358	0.0:0.2463:0.1133:0.6404	8.736	0.33686	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004545	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	680.43	36	chr22	44916594	.	C	T	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.815;DP=419;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=1.83;SOR=1.044	GT:AD:DP:GQ:PL	0/0:49,0:49:99:0,120,1800	9	0	1	0
chr22	44920438	44920438	A	G	exonic	PHF21B	.	nonsynonymous SNV	PHF21B:NM_001242450:exon3:c.T137C:p.L46S,PHF21B:NM_138415:exon3:c.T173C:p.L58S,PHF21B:NM_001135862:exon4:c.T173C:p.L58S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0585019420961	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423782570	4.107e-06	4.104e-06	5.448e-06	2.753e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.45318	T	1.0	0.90584	D	0.996	0.92359	D	0.000056	0.53742	D	0.000000	0.999974	0.81001	D	1.895	0.50365	L	1.95	0.22474	T	-1.83	0.55025	N	0.845	0.84090	-1.0347	0.18951	T	0.106	0.38661	T	10	0.45451695	0.58906	T	0.058502	0.67341	D	0.324	0.64624	0.121	0.02793	0.179529687257	0.17594	0.5906322730857828	0.58993	1.13069525492	0.78602	0.762233614922	0.76263	T	0.010033	0.09096	T	0.125902	0.66960	D	-0.056927	0.66546	D	0.892239689826965	0.54330	D	0.90251	0.65969	D	0.3933129	0.60266	0.47742426	0.69725	0.3933129	0.60266	0.47742426	0.69725	-5.806	0.44626	T	.	.	0.751	0.88666	P	.;.;.;.	.;.;.;.	4.850225	0.79271	27.1	0.99879700701294316	0.95572	0.98091	0.79521	D	AEFDBI	0.925428	0.90497	D	0.618198973773252	0.74327	6.113671	0.589966781820191	0.74218	6.099976	0.999996154564353	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	8.110000	0.89414	10.866000	0.83993	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	13.779	0.62559	982	0.03397	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	419.43	35	chr22	44920438	.	A	G	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.91;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=0.761;SOR=0.846	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,990	9	0	1	0
chr22	45358784	45358784	T	G	exonic	SMC1B	.	nonsynonymous SNV	SMC1B:NM_001291501:exon19:c.A2874C:p.E958D,SMC1B:NM_148674:exon19:c.A2874C:p.E958D	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	.	.	0.00858626	0.0047	0	0.0002	0	0	3.001e-05	0.0022	0.0339	0.0040426	625	154602	rs199833095	0.0020	0.0020	0.0011	0.0029	0.0319	0.0019	0.0019	0.0309	0.0305	5.993e-05	2.249e-05	0	5.051e-05	0	0.0012	2.161e-05	0.0024	0.0319	0.0011	0.0011	0.0007	0.0016	0.0346	0.0010	0.0009	0.0303	0.0286	2.405e-05	0	6.535e-05	0	0	0	0	1.47e-05	0.0005	0.0346	0.521	0.07720	T	0.581	0.13403	T	.	.	.	.	.	.	0.068704	0.21654	N	0.423379	0.810817	0.34638	D	.	.	.	-1.22	0.78752	T	-0.33	0.17210	N	0.138	0.19325	-0.8382	0.52766	T	0.218	0.58098	T	10	0.0029177666	0.00047	T	.	.	.	0.142	0.37995	0.407	0.44066	0.431743554055	0.42795	0.3097513824259511	0.30888	0.263362769857	0.28890	0.442795038223	0.30959	T	.	.	.	-0.534962	0.00359	T	-0.516145	0.20686	T	0.0206704880206403	0.00767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24666	B	.;.	.;.	1.416175	0.18325	13.67	0.97378250090919793	0.33656	0.35729	0.25369	N	AEFBI	0.113646	0.22415	N	-0.500214194332908	0.22074	1.176106	-0.350356827993745	0.26498	1.463999	5.54846206246965E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.07	3.92	0.44525	0.300000	0.18911	0.871000	0.22313	0.661000	0.55757	0.028000	0.20300	0.727000	0.26391	0.997000	0.79791	0.1349:0.1337:0.141:0.5903	2.014	0.03283	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.015152	0.05	942.43	35	chr22	45358784	.	T	G	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.046;DP=404;ExcessHet=0;FS=0.895;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.18;SOR=0.926	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,105,1575	9	0	1	0
chr22	45361894	45361894	C	T	exonic	SMC1B	.	nonsynonymous SNV	SMC1B:NM_001291501:exon17:c.G2653A:p.E885K,SMC1B:NM_148674:exon17:c.G2653A:p.E885K	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0419537346349	.	0.000399361	0.0004	0	0	0	0	4.497e-05	0	0.0024	0.0002911	45	154602	rs529272643	0.0002	0.0002	9.665e-05	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	2.987e-05	0	0	5.039e-05	0	0.0002	2.608e-05	8.279e-05	0.0026	7.88e-05	8.531e-05	6.425e-05	9.402e-05	0.0021	4.494e-05	3.51e-05	0.0011	0.0009	0	0	0	0	0	0	0	2.94e-05	0	0.0021	0.077	0.34095	T	0.441	0.29153	T	.	.	.	.	.	.	0.073836	0.21321	N	0.390864	1	0.08975	N	.	.	.	-1.37	0.80214	T	-2.07	0.47344	N	0.107	0.09349	-0.7602	0.57394	T	0.315	0.68477	T	10	0.009447187	0.00213	T	0.041954	0.60207	D	0.293	0.61272	0.521	0.62368	0.393040851499	0.38920	0.20166413036344266	0.20083	0.316803316336	0.33933	0.379671275616	0.22210	T	.	.	.	-0.367649	0.03714	T	-0.306427	0.44042	T	0.0287950819075432	0.01806	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.14568	B	.;.	.;.	2.424068	0.31176	18.66	0.99533059515087774	0.70025	0.06815	0.12839	N	AEFBI	0.045216	0.07368	N	-0.183835733549436	0.33807	1.92227	-0.144182127154261	0.33634	1.925924	0.00212161380240355	0.09174	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.31	4.22	0.49153	1.010000	0.29500	4.838000	0.45259	0.599000	0.40250	0.338000	0.25657	1.000000	0.68203	0.886000	0.42526	0.0:0.7046:0.1778:0.1176	6.953	0.23736	981	0.03995	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2248.43	34	chr22	45361894	.	C	T	2248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.26;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.539;SOR=0.688	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,100,1310	9	0	1	0
chr22	45417760	45417760	A	G	exonic	RIBC2	.	nonsynonymous SNV	RIBC2:NM_015653:exon3:c.A370G:p.K124E	.	441	1071	9	1	0	11	0.00510915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.00651781173854	0.0009	0.000599042	0.0011	0.0003	0.0006	0	0.0033	0.0012	0.0033	0.0010	0.0011319	175	154602	rs142282889	0.0016	0.0016	0.0016	0.0016	0.0017	0.0016	0.0015	0.0017	0.0017	0.0001	0.0009	0.0003	0	0.0026	0.0012	0.0017	0.0019	0.0013	0.0012	0.0012	0.0012	0.0012	0.0017	0.0010	0.0010	0.0015	0.0014	0.0003	0	0.0008	0.0009	0	0.0023	0	0.0017	0.0014	0.0012	.	.	.	0.024	0.56640	D	.	.	.	.	.	.	0.001457	0.38980	N	0.201297	0.874003	0.35618	D	.	.	.	.	.	.	.	.	.	0.443	0.48134	-0.9447	0.41863	T	0.111	0.39959	T	9	0.016529292	0.00349	T	0.006518	0.17186	T	.	.	.	.	0.490771696789	0.48710	0.3461498239524725	0.34528	.	.	0.316656112671	0.12914	T	0.125318	0.45095	T	-0.196895	0.21252	T	-0.0617691	0.66209	T	0.0280455961307354	0.01694	T	0.813119	0.46553	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33823	B	.	.	3.099383	0.41763	21.4	0.99756186296661209	0.84694	0.83452	0.42568	D	AEFDBI	0.286885	0.39916	N	0.10507870177138	0.46700	2.906336	-0.00778896768607706	0.39363	2.332682	1.99062549117029E-5	0.02871	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.567892	0.33627	0	.	.	4.85	1.3	0.20778	2.562000	0.45576	2.276000	0.31865	0.756000	0.94297	0.988000	0.36536	0.001000	0.17328	0.998000	0.85391	0.585:0.2906:0.0:0.1244	7.810	0.28386	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	1532.43	34	chr22	45417760	.	A	G	1532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=448;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=1.18;SOR=0.631	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,930	9	0	1	0
chr22	46260510	46260510	T	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A2813T:p.D938V	.	.	.	.	.	.	.	.	.	.	.	3572691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0124996695879	0.0012	0.000199681	0.0002	0.0019	0	0	0	0	0	0	0.0001358	21	154602	rs148751289	8.072e-05	8.209e-05	9.937e-05	6.188e-05	0.0027	6.868e-05	6.42e-05	0.0022	0.0021	0.0027	6.708e-05	0	0	0	0.0003	0	0.0004	1.159e-05	0.0007	0.0007	0.0007	0.0006	0.0023	0.0006	0.0005	0.0020	0.0018	0.0023	0	0.0004	0	0	0	0	0	0.0005	0	0.092	0.31682	T	0.051	0.47828	T	0.091	0.25247	B	0.024	0.20255	B	0.595970	0.11004	N	0.787491	0.999999	0.08975	N	1.525	0.38595	L	1.12	0.38718	T	-2.54	0.55025	D	0.232	0.26111	-1.0200	0.23715	T	0.081	0.32090	T	10	0.010771632	0.00238	T	0.013	0.31128	T	0.030	0.07022	.	.	0.308904156042	0.30501	0.6299400935212984	0.62928	.	.	0.247323602438	0.03491	T	0.346529	0.71477	T	-0.560583	0.00252	T	-0.583253	0.14255	T	0.00533656173736405	0.00058	T	0.39826	0.10085	T	0.11565282	0.27288	0.08455849	0.19460	0.11565282	0.27287	0.08455849	0.19460	-3.13	0.11644	T	.	.	0.127	0.27100	B	.	.	0.683604	0.10520	7.234	0.69287760366046658	0.08924	0.04816	0.10540	N	AEFBI	0.063615	0.12304	N	-1.0075160222352	0.08447	0.3960936	-1.05123531729038	0.08681	0.4280391	0.988538528921663	0.31548	0.516011	0.20929	0	0.563428	0.19063	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.33	0.405	0.15579	0.153000	0.16140	0.112000	0.14796	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.1931:0.29:0.5169	8.006	0.29484	939	0.14249	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1711.43	35	chr22	46260510	.	T	A	1711.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.222;DP=977;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=0.097;SOR=0.731	GT:AD:DP:GQ:PL	0/0:143,0:143:99:0,120,1800	9	0	1	0
chr22	46262850	46262850	G	A	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.C473T:p.P158L	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	0.0081869	0	0	0	.	0	0	0	.	0.0021899	57	26028	rs535999056	0.0006	0.0005	0.0006	0.0005	0.0251	0.0006	0.0005	0.0234	0.0227	0.0251	0.0016	0	0	0	0.0008	9.074e-06	0.0018	5.256e-05	0.0063	0.0062	0.0070	0.0056	0.0218	0.0060	0.0058	0.0206	0.0202	0.0218	0	0.0019	0	0	0	0	1.502e-05	0.0039	0	0.358	0.11994	T	0.04	0.50809	D	0.004	0.12183	B	0.004	0.10090	B	0.058426	0.02110	N	2.293200	1	0.08975	N	0	0.06538	N	1.25	0.36512	T	-0.19	0.09965	N	0.054	0.02559	-1.0333	0.19395	T	0.036	0.15640	T	10	0.0038966835	0.00074	T	.	.	.	0.022	0.04323	.	.	0.152612264143	0.14878	0.12178686994108999	0.12105	.	.	0.728449046612	0.71280	T	0.093589	0.39242	T	-0.680644	0.00048	T	-0.733555	0.04169	T	0.156881481409073	0.17638	T	0.352565	0.07917	T	0.029211916	0.02380	0.0436498	0.05476	0.029211916	0.02380	0.0436498	0.05476	-2.956	0.09715	T	.	.	0.139	0.30529	B	.	.	0.400247	0.07713	4.393	0.80217543067494157	0.13099	0.02793	0.07509	N	AEFDBCI	0.036549	0.04886	N	-1.47302741418062	0.02042	0.08976276	-1.57619902165922	0.01801	0.08202044	0.999999986387083	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.33	-6.67	0.01618	0.416000	0.20918	-0.278000	0.10292	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0959:0.2589:0.2761:0.3691	2.308	0.03923	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000885	0.000000	0.004132	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	90.56	5	chr22	46262850	.	G	A	90.56	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.52;DP=115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0635;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=1.24;SOR=1.022	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,327	9	0	1	0
chr22	46262935	46262935	C	T	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.G388A:p.V130M	.	438	1000	78	6	0	90	0.0430622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00750178425146	.	0.00119808	0	.	.	.	.	.	.	.	0.0022284	58	26028	rs555983963	0.0073	0.0059	0.0070	0.0077	0.0364	0.0072	0.0071	0.0300	0.0276	0.0007	0.0055	0.0241	0	0.0008	0.0364	0.0069	0.0095	0.0298	0.0057	0.0056	0.0057	0.0056	0.0273	0.0053	0.0052	0.0235	0.0220	0.0012	0	0.0060	0.0207	0.0004	0.0002	0.0144	0.0070	0.0103	0.0273	0.106	0.29688	T	0.129	0.34837	T	0.002	0.09854	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.04	0.40218	T	-0.34	0.12661	N	0.085	0.06190	-1.0511	0.14092	T	0.039	0.16849	T	9	0.003783077	0.00071	T	0.007502	0.19899	T	0.024	0.04979	.	.	0.144782658237	0.14088	0.1122755194000412	0.11156	.	.	0.766550064087	0.76907	T	0.129762	0.45823	T	-0.643599	0.00079	T	-0.690155	0.06380	T	0.0338523007500729	0.02613	T	0.283372	0.04986	T	0.029207122	0.02378	0.06186876	0.12017	0.029207122	0.02377	0.06186876	0.12016	-6.417	0.49642	T	.	.	0.315	0.54160	B	.	.	0.317506	0.06923	3.465	0.90352359249839387	0.19616	0.00728	0.03057	N	AEFDBCIJ	0.024055	0.01430	N	-1.43408809024655	0.02345	0.1034341	-1.54963673240453	0.01979	0.09036567	0.999999410641253	0.74766	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	2.75	-5.51	0.02366	-1.631000	0.02128	-0.250000	0.10515	0.514000	0.23422	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.1501:0.1918:0.2983:0.3599	0.949	0.01285	945	0.12563	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016014	0.000000	0.000000	0.023810	0.000000	0.000000	0.016393	0.050000	0.05	41.48	13	chr22	46262935	.	C	T	41.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.01;DP=108;ExcessHet=0;FS=0;InbreedingCoeff=-0.0571;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=0.339;SOR=0.765	GT:AD:DP:GQ:PL	0/0:11,0:11:33:0,33,308	9	0	1	0
chr22	46297422	46297422	G	T	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.G22T:p.D8Y	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.00359022138172	0.0022	0.000798722	0.0019	0.0004	0.0011	0	0.0006	0.0029	0.0055	0.0006	0.0019211	297	154602	rs201868940	0.0029	0.0030	0.0031	0.0028	0.0033	0.0029	0.0028	0.0032	0.0032	0.0003	0.0017	0.0103	0	0.0004	0.0005	0.0033	0.0029	0.0004	0.0018	0.0018	0.0019	0.0018	0.0030	0.0016	0.0016	0.0027	0.0026	0.0006	0	0.0007	0.0089	0	9.409e-05	0	0.0030	0.0019	0.0002	0.003	0.68238	D	0.04	0.50809	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.0	0.09167	T	-1.66	0.39692	N	0.237	0.26717	-0.9892	0.32803	T	0.018	0.07282	T	6	0.004812926	0.00102	T	0.00359	0.08216	T	0.034	0.08419	.	.	0.322230723748	0.31824	0.1897403424630426	0.18892	0.561206550401	0.52626	0.459089487791	0.33185	T	.	.	.	-0.581865	0.00188	T	-0.608456	0.12110	T	0.0594588973204298	0.07083	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.894186	0.24061	16.25	0.98556596083164094	0.42922	0.02206	0.06433	N	ALL	0.044940	0.07291	N	-0.613890695189538	0.18526	0.9625419	-0.804448488505187	0.14388	0.7515169	0.999999966901385	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.35	0.068	0.13679	0.112000	0.15312	0.729000	0.21072	-0.169000	0.11342	0.001000	0.13787	0.001000	0.17328	0.006000	0.07323	0.1664:0.2724:0.5612:0.0	3.415	0.06946	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1759.43	36	chr22	46297422	.	G	T	1759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.294;DP=477;ExcessHet=0;FS=1.22;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-1.689;SOR=0.566	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1119	9	0	1	0
chr22	46313941	46313941	G	T	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon6:c.G979T:p.A327S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00350357144774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	4.084e-06	1.375e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.03598	T	0.638	0.07015	T	.	.	.	.	.	.	0.153039	0.02978	N	1.814990	1	0.08975	N	.	.	.	3.17	0.07599	T	0.08	0.06026	N	0.058	0.02964	-0.9923	0.32012	T	0.011	0.04321	T	10	0.037608862	0.02125	T	0.003504	0.07939	T	0.026	0.05648	.	.	0.0401082797425	0.02173	0.09508078543260313	0.09440	0.152755714231	0.17239	0.277024567127	0.07082	T	.	.	.	-0.383771	0.02948	T	-0.789037	0.02191	T	0.0932864095329328	0.11602	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11269	B	.	.	0.049954	0.04636	1.297	0.34764142606908965	0.02145	0.02217	0.06454	N	AEFDGBI	0.038615	0.05492	N	-1.43971385594193	0.02299	0.1013543	-1.55448147742208	0.01945	0.0887944	0.999834910211568	0.43792	0.706548	0.73137	0	0.702456	0.74545	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	4.42	-5.66	0.02255	0.062000	0.14264	-1.634000	0.05018	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3697:0.2414:0.2561:0.1327	1.151	0.01676	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1227.43	35	chr22	46313941	.	G	T	1227.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.453;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=-1.022;SOR=0.633	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1239,0,1352	9	0	1	0
chr22	46397724	46397724	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon12:c.A5651G:p.N1884S,CELSR1:NM_014246:exon12:c.A5651G:p.N1884S	.	417	1053	52	0	0	52	0.0240964	.	.	.	2736118	not_provided|CELSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0035	0.00439297	0.0102	0.0019	0.0097	0.0003	0.0262	0.0119	0.0145	0.0112	0.0043208	668	154602	rs144122307	0.0055	0.0055	0.0054	0.0056	0.0336	0.0054	0.0054	0.0297	0.0282	0.0009	0.0044	0.0041	2.63e-05	0.0065	0.0336	0.0056	0.0063	0.0071	0.0043	0.0043	0.0041	0.0046	0.0060	0.0041	0.0040	0.0051	0.0049	0.0013	0	0.0050	0.0023	0.0002	0.0087	0.0068	0.0055	0.0095	0.0060	0.095	0.31235	T	0.099	0.38891	T	0.104	0.25941	B	0.024	0.20255	B	0.000929	0.41028	U	0.149021	0.970658	0.25693	N	1.8	0.47472	L	1.59	0.28836	T	-2.85	0.60029	D	0.468	0.50418	-1.0883	0.05821	T	0.051	0.21689	T	10	0.0123339	0.00265	T	.	.	.	0.099	0.28413	.	.	0.51743518642	0.51388	0.17866635132833883	0.17785	0.180036691928	0.20253	0.33372759819	0.15496	T	0.476755	0.80727	T	-0.553792	0.00277	T	-0.564115	0.15992	T	0.0322841818226493	0.02352	T	0.834417	0.50357	T	0.123880945	0.29080	0.12335056	0.29745	0.123880945	0.29079	0.12335056	0.29745	-5.796	0.44540	T	.	.	0.093	0.14062	B	.	.	2.594154	0.33663	19.40	0.90232056920767623	0.19504	0.97015	0.72198	D	AEFDBI	0.707286	0.66206	D	-0.195903848770706	0.33304	1.887959	-0.176973184716431	0.32385	1.84195	0.999991459268569	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.39	4.39	0.52211	5.776000	0.68576	7.625000	0.62478	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.0:1.0	13.567	0.61287	970	0.06235	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022750	0.020408	0.020436	0.032164	0.100000	0.025862	0.018750	0.011364	0.1	1277.14	49	chr22	46397724	.	T	C	1277.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.031;DP=370;ExcessHet=0.2348;FS=8.594;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.773;SOR=0.227	GT:AD:DP:GQ:PL	0/1:27,21:48:99:492,0,760	8	0	2	0
chr22	46535334	46535334	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon1:c.G1837A:p.G613R,CELSR1:NM_014246:exon1:c.G1837A:p.G613R	.	.	.	.	.	.	.	.	.	.	.	3303853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.100319960599	0.0002	.	6.841e-05	0.0008	0	0	0	0	0	0	5.17e-05	8	154602	rs143033156	3.63e-05	3.694e-05	4.498e-05	2.754e-05	0.0009	2.832e-05	2.568e-05	0.0007	0.0006	0.0009	6.71e-05	0	0	0	0	8.993e-07	0.0003	1.159e-05	0.0003	0.0003	0.0004	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0004	0	0	0	0	0	0.0005	0	0.006	0.61437	D	0.012	0.63918	D	0.263	0.31569	B	0.075	0.28327	B	.	.	.	.	1	0.08975	N	1.545	0.39105	L	-0.35	0.68616	T	-1.36	0.33798	N	0.27	0.30574	-0.8703	0.50506	T	0.202	0.55850	T	9	0.05043149	0.04775	T	0.10032	0.77252	D	0.052	0.14661	0.497	0.58678	0.439949123286	0.43613	0.476051785479342	0.47525	1.93016318214	0.93125	0.509177863598	0.40107	T	0.157818	0.50058	T	-0.380978	0.03072	T	-0.403057	0.33028	T	0.0198681116057246	0.00689	T	0.633137	0.24745	T	0.13051149	0.30450	0.11785879	0.28451	0.13051149	0.30449	0.11785879	0.28450	-4.302	0.28205	T	.	.	0.130	0.27791	B	.	.	2.543064	0.32903	19.18	0.99442253785875967	0.64820	0.24376	0.22374	N	AEFDBCI	0.118475	0.23165	N	-0.609805794255696	0.18649	0.9698817	-0.656948126538891	0.18041	0.9620416	0.999803647244683	0.43304	0.609539	0.35627	0	0.588066	0.40923	0	0.493711	0.08198	1	0.586402	0.36253	0	.	.	4.63	3.61	0.40494	1.755000	0.38008	2.347000	0.32290	0.433000	0.20966	0.084000	0.22438	0.269000	0.24035	0.003000	0.05239	0.1742:0.7333:0.0:0.0925	6.776	0.22806	940	0.13648	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	813.43	71	chr22	46535334	.	C	T	813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.527;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.745;SOR=0.693	GT:AD:DP:GQ:PL	0/0:77,0:77:99:0,120,1800	9	0	1	0
chr22	49774251	49774251	G	T	exonic	BRD1	.	nonsynonymous SNV	BRD1:NM_001349941:exon12:c.C3537A:p.D1179E,BRD1:NM_001304808:exon13:c.C3552A:p.D1184E,BRD1:NM_001304809:exon13:c.C3159A:p.D1053E,BRD1:NM_001349940:exon13:c.C3306A:p.D1102E,BRD1:NM_001349942:exon13:c.C2010A:p.D670E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.019065115992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.949	0.03631	T	0.52	0.10465	T	0.792	0.90584	P	0.138	0.84481	B	0.000000	0.84330	D	0.089052	0.999949	0.81001	D	1.01	0.25309	L	2.46	0.14907	T	-0.55	0.16799	N	0.265	0.30118	-1.0509	0.14147	T	0.097	0.36341	T	10	0.15361354	0.28992	T	0.019065	0.41331	T	0.191	0.46948	0.097	0.01334	0.650458046018	0.64755	0.24556380584350712	0.24470	1.03228781939	0.75458	0.679062843323	0.64134	T	0.051458	0.28885	T	-0.182387	0.23381	T	-0.499763	0.22372	T	0.485498648395369	0.32099	T	0.789121	0.43725	T	0.11890768	0.28007	0.10271489	0.24625	0.11890768	0.28007	0.10271489	0.24625	-4.321	0.28470	T	.	.	0.190	0.48386	B	.;.;.;.	.;.;.;.	4.225325	0.63937	24.6	0.87024749474708052	0.16936	0.98970	0.89343	D	AEFDBI	0.667309	0.63547	D	0.165806715718946	0.49562	3.155272	0.209780043201895	0.50390	3.231511	0.999945897474997	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.89	3.88	0.43959	4.550000	0.60443	5.071000	0.47178	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0776:0.0:0.9224:0.0	13.305	0.59785	988	0.01987	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	780.43	35	chr22	49774251	.	G	T	780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.564;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.811;SOR=0.769	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1046	9	0	1	0
chr22	49804325	49804325	C	T	exonic	BRD1	.	nonsynonymous SNV	BRD1:NM_001349941:exon2:c.G1403A:p.R468Q,BRD1:NM_001304808:exon3:c.G1403A:p.R468Q,BRD1:NM_001304809:exon3:c.G1403A:p.R468Q,BRD1:NM_001349940:exon3:c.G1565A:p.R522Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.0154400872994	.	.	1.66e-05	9.636e-05	0	0	0	1.51e-05	0	0	1.29e-05	2	154602	rs761625739	7.553e-06	7.524e-06	6.826e-06	8.289e-06	4.536e-05	4.05e-06	2.96e-06	7.52e-06	2.81e-06	2.989e-05	4.536e-05	0	0	0	0	6.312e-06	1.66e-05	0	1.97e-05	1.97e-05	3.853e-05	0	4.824e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	1.47e-05	0	0	0.019	0.51248	D	0.029	0.54541	D	0.998	0.73220	D	0.76	0.56425	P	0.000001	0.84330	D	0.053429	0.999928	0.51308	D	1.745	0.45235	L	2.59	0.15964	T	-2.23	0.50012	N	0.344	0.41557	-0.9682	0.37571	T	0.141	0.46091	T	10	0.33954617	0.51039	T	0.01544	0.36172	T	0.127	0.34888	0.483	0.56462	0.488820726603	0.48513	0.305498928296785	0.30462	1.97522762311	0.93589	0.670330047607	0.62885	T	0.183825	0.53630	T	-0.232942	0.16262	T	-0.390853	0.34450	T	0.80504035949707	0.46699	D	0.966803	0.88371	D	0.40259817	0.60912	0.25797743	0.51523	0.40259817	0.60912	0.25797743	0.51523	-11.292	0.81235	D	.	.	0.221	0.47172	B	.;.;.;.	.;.;.;.	5.355025	0.89820	31	0.99947796125352817	0.99923	0.90057	0.50941	D	AEFBI	0.304277	0.41202	N	0.41485716532334	0.62239	4.436571	0.481916284204249	0.66793	4.998455	0.999999996121008	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.05	5.05	0.67566	5.935000	0.69862	7.544000	0.60141	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.390	0.90424	976	0.04745	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1513.43	34	chr22	49804325	.	C	T	1513.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.849;DP=441;ExcessHet=0;FS=0.664;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.38;SOR=0.593	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,981	9	0	1	0
chr22	49884936	49884936	C	T	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.C1274T:p.A425V	.	426	1039	54	3	0	60	0.0280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0036	0.00399361	0.0050	0.0012	0.0048	0	0.0014	0.0052	0.0112	0.0108	0.0047606	736	154602	rs146411541	0.0044	0.0044	0.0040	0.0047	0.0234	0.0043	0.0042	0.0202	0.0190	0.0013	0.0044	0.0203	5.043e-05	0.0007	0.0234	0.0037	0.0067	0.0105	0.0037	0.0037	0.0036	0.0038	0.0104	0.0034	0.0033	0.0081	0.0073	0.0010	0	0.0053	0.0196	0	0.0014	0.0102	0.0043	0.0071	0.0104	0.639	0.05017	T	0.486	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.625807	0.10734	N	0.810413	1	0.08975	N	-1.39	0.00611	N	0.97	0.42502	T	-0.11	0.08653	N	0.043	0.01577	-0.9929	0.31853	T	0.018	0.07329	T	10	0.002109021	0.00030	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.14576151107688307	0.14499	0.416527251118	0.42292	0.305198401213	0.11181	T	0.022249	0.17186	T	-0.703328	0.00035	T	-0.775382	0.02595	T	0.000719385774239782	0.00007	T	0.331767	0.06954	T	0.012989459	0.00046	0.023819037	0.00395	0.012989459	0.00046	0.023819037	0.00395	-3.132	0.11668	T	.	.	0.064	0.01577	B	.	.	-0.973239	0.00810	0.027	0.27354374797518821	0.01354	0.00434	0.02127	N	AEFBI	0.015799	0.00319	N	-1.86894502346642	0.00397	0.01708544	-1.83612183965624	0.00650	0.02891738	0.935458911534085	0.27214	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.6	-3.87	0.03939	-0.396000	0.07338	-1.679000	0.04930	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.0:0.38:0.1225:0.4976	6.952	0.23732	974	0.05496	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.020202	0.021739	0.014620	0.000000	0.025862	0.009146	0.007576	0.05	1415.43	47	chr22	49884936	.	C	T	1415.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.395;DP=746;ExcessHet=0;FS=2.067;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.51;ReadPosRankSum=-0.142;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1058:.	9	0	1	0
chr22	49904452	49904452	G	C	exonic	ALG12	.	nonsynonymous SNV	ALG12:NM_024105:exon8:c.C1047G:p.I349M	Congenital disorder of glycosylation, type Ig	0	1517	5	0	0	5	0.00164528	.	.	.	1547680	ALG12-congenital_disorder_of_glycosylation	MONDO:MONDO:0011783,MedGen:C2931001,OMIM:607143,Orphanet:79324	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.031	0.00856137026006	7.7e-05	0.000399361	0.0003	0	0	0	0	0.0002	0	0.0016	0.0002781	43	154602	rs182006999	0.0001	0.0001	8.848e-05	0.0002	0.0021	0.0001	0.0001	0.0014	0.0014	2.987e-05	2.236e-05	0	0	0	0.0021	4.766e-05	0.0001	0.0017	7.224e-05	7.218e-05	1.285e-05	0.0001	0.0012	3.969e-05	3.126e-05	0.0005	0.0004	0	0	0	0	0	0.0003	0.0034	1.47e-05	0	0.0012	0.123	0.27544	T	0.094	0.39645	T	0.26	0.31497	B	0.207	0.37187	B	0.400203	0.13135	N	0.707951	1	0.08975	N	1.585	0.39878	L	-0.07	0.63738	T	-1.11	0.28703	N	0.215	0.24010	-1.0767	0.08003	T	0.061	0.25383	T	10	0.012331128	0.00265	T	0.008561	0.22631	T	0.111	0.31313	.	.	0.17948927462	0.17512	0.5176862772715713	0.51691	0.248513406715	0.27412	0.277180492878	0.07102	T	0.093122	0.39147	T	-0.489112	0.00657	T	-0.494366	0.22934	T	0.0353767079927297	0.02872	T	0.662434	0.27137	T	0.06713221	0.14508	0.061813682	0.11996	0.06713221	0.14508	0.061813682	0.11996	-4.43	0.29961	T	0.2191416735944042	0.29522	0.073	0.04681	B	.	.	-2.106206	0.00080	0.001	0.82895025659052868	0.14432	0.02145	0.06315	N	AEFBI	0.051189	0.09019	N	-1.45694317415716	0.02163	0.09519366	-1.72847761038609	0.01017	0.04560119	0.999999989191555	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.77	-9.54	0.00481	-4.502000	0.00258	-15.955000	0.00333	-0.140000	0.12423	0.000000	0.06391	0.000000	0.08366	0.249000	0.23237	0.2083:0.1843:0.3701:0.2373	1.528	0.02377	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.05	1280.43	40	chr22	49904452	.	G	C	1280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.6;DP=457;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.327;SOR=0.709	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,99,1485	9	0	1	0
chr22	49922288	49922325	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	0	exonic	CRELD2	.	.	.	.	435	791	175	16	105	312	0.115707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5625.99	88	chr22	49922288	.	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	*	5625.99	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.35;DP=718;ExcessHet=0.0135;FS=5.172;InbreedingCoeff=0.5238;MLEAC=2;MLEAF=0.1;MQ=59.91;MQRankSum=0;QD=15.85;ReadPosRankSum=-1.306;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|0:0,0:69:99:1|1:49922284_CG_C:2541,2541,2541:49922284	8	0	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	12080.7	73	chr22	49922304	.	C	*	12080.7	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.08;DP=764;ExcessHet=0.0952;FS=0.682;InbreedingCoeff=0.3407;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=18.76;ReadPosRankSum=1.16;SOR=0.667	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,69:69:99:1|1:49922284_CG_C:2541,208,0:49922284	6	2	2	0
chr22	49922325	49922325	G	0	exonic	CRELD2	.	.	.	.	441	818	50	1	212	264	0.0308057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1333.4	73	chr22	49922325	.	G	*	1333.4	.	AC=4;AF=0.25;AN=16;BaseQRankSum=1.44;DP=700;ExcessHet=0;FS=4.378;InbreedingCoeff=0.5821;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=-0.434;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,69:69:99:1|1:49922284_CG_C:2541,208,0:49922284	6	2	0	2
chr22	50217099	50217099	G	A	exonic	SELENOO	.	unknown	UNKNOWN	.	426	1083	13	0	0	13	0.00596604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	.	0.0010	0.00319489	0.0038	0.0002	0.0024	0	0.0003	0.0011	0.0034	0.0208	0.0031953	494	154602	rs199789705	0.0023	0.0023	0.0018	0.0029	0.0209	0.0023	0.0022	0.0201	0.0198	0.0003	0.0024	0.0005	5.039e-05	7.64e-05	0.0045	0.0012	0.0023	0.0209	0.0015	0.0015	0.0010	0.0020	0.0203	0.0014	0.0013	0.0170	0.0158	9.626e-05	0.0263	0.0016	0	0	0	0.0034	0.0011	0.0014	0.0203	0.291	0.14945	T	0.351	0.17425	T	0.462	0.36386	P	0.153	0.34292	B	0.018225	0.27531	N	0.394088	0.998546	0.45064	D	2.125	0.59049	M	0.84	0.47477	T	-1.71	0.40660	N	0.545	0.57177	-1.0709	0.09216	T	0.099	0.36856	T	10	0.009378403	0.00212	T	.	.	.	0.133	0.36157	.	.	0.518697010188	0.51514	.	.	0.120188886323	0.13538	0.569876730442	0.48660	T	0.024215	0.18341	T	-0.402997	0.02213	T	-0.335397	0.40865	T	0.0174574593105553	0.00482	T	0.990701	0.97129	D	0.06846839	0.14919	0.10141093	0.24276	0.06846839	0.14919	0.10141093	0.24276	.	.	.	.	.	0.150	0.33179	B	.;.	.;.	2.366881	0.30367	18.41	0.99534063890246804	0.70087	0.91253	0.53161	D	AEFBCI	0.754708	0.69450	D	-0.143293376161727	0.35522	2.041333	-0.0995806134462495	0.35407	2.048166	0.999332909088477	0.39185	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	3.01	0.33872	4.593000	0.60743	2.069000	0.30434	0.614000	0.49286	1.000000	0.71638	0.989000	0.31174	0.358000	0.25841	0.0:0.132:0.7307:0.1373	11.953	0.52253	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.002717	0.008772	0.000000	0.008621	0.015244	0.022727	0.05	1858.43	46	chr22	50217099	.	G	A	1858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.39;DP=548;ExcessHet=0;FS=1.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.708;SOR=0.531	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chr22	50250480	50250480	T	C	exonic	HDAC10	.	nonsynonymous SNV	HDAC10:NM_001159286:exon3:c.A238G:p.K80E,HDAC10:NM_032019:exon3:c.A238G:p.K80E	.	.	.	.	.	.	.	.	.	.	.	2338957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.087	0.0145243464094	0.0005	0.000199681	0.0001	0	0.0003	0	0	0.0002	0	0	0.0001358	21	154602	rs148308549	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0005	0.0003	5.974e-05	0.0003	3.827e-05	5.038e-05	0	0.0010	0.0002	0.0004	0	0.0001	0.0001	0.0001	0.0001	0.0003	9.156e-05	7.71e-05	0.0002	0.0001	2.411e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.568482	0.05466	N	1.240830	1	0.08975	N	-0.05	0.04954	N	-0.51	0.70597	T	-0.05	0.07736	N	0.208	0.23125	-0.9421	0.42282	T	0.118	0.41538	T	10	0.029790789	0.01105	T	0.014524	0.34691	T	0.087	0.25287	.	.	0.644343247723	0.64140	0.3086635120164532	0.30779	0.0697882760953	0.07817	0.286497175694	0.08415	T	0.022443	0.17299	T	-0.43044	0.01473	T	-0.559882	0.16388	T	0.0128985856314781	0.00222	T	0.492351	0.15167	T	0.08123539	0.18654	0.058270615	0.10737	0.08123539	0.18654	0.058270615	0.10737	-2.816	0.08332	T	.	.	0.066	0.03588	B	.;.;.	.;.;.	0.695321	0.10640	7.340	0.5105994877713077	0.04494	0.13332	0.17796	N	AEFDGBHCI	0.171346	0.29831	N	-1.89436164921566	0.00353	0.01514469	-1.86660270326305	0.00568	0.02523626	0.999999850486748	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	4.95	-2.93	0.05261	-0.076000	0.11374	-0.100000	0.11953	-0.913000	0.02247	0.000000	0.06391	0.000000	0.08366	0.413000	0.27073	0.0:0.4732:0.1769:0.3499	9.132	0.36014	641	0.64016	Histone deacetylase domain;Histone deacetylase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1603.43	35	chr22	50250480	.	T	C	1603.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.327;DP=497;ExcessHet=0;FS=4.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-1.828;SOR=1.035	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,106,1494	9	0	1	0
chr22	50504410	50504410	G	A	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon12:c.C1573T:p.H525Y,LMF2:NM_033200:exon12:c.C1648T:p.H550Y	.	.	.	.	.	.	.	.	.	.	.	2357802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0129807038453	.	.	2.539e-05	0	0	0.0002	0.0002	0	0	0	1.94e-05	3	154602	rs780084108	2.123e-05	2.121e-05	1.635e-05	2.615e-05	0.0002	1.521e-05	1.326e-05	6.512e-05	4.449e-05	5.975e-05	0	0	0.0002	3.828e-05	0	1.709e-05	1.657e-05	1.159e-05	6.581e-06	1.313e-05	0	1.347e-05	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.103	0.36709	T	1.0	0.01155	T	0.326	0.33151	B	0.285	0.40506	B	0.072820	0.21386	N	0.508491	0.986481	0.24612	N	2.585	0.75554	M	2.0	0.21473	T	-1.72	0.40850	N	0.466	0.50237	-0.9761	0.35882	T	0.132	0.44406	T	10	0.13219777	0.25161	T	0.012981	0.32017	T	0.063	0.18251	0.384	0.40298	0.0138822411134	0.00435	0.405017126622431	0.40417	.	.	0.515106201172	0.40938	T	0.101563	0.40844	T	-0.364968	0.03857	T	-0.432027	0.29705	T	0.0540959283001503	0.06205	T	0.689731	0.29897	T	0.049853615	0.08915	0.06583013	0.13397	0.049853615	0.08915	0.06583013	0.13396	-8.284	0.62988	D	.	.	0.087	0.14108	B	.;.	.;.	1.276007	0.16750	12.74	0.94384705840035754	0.24761	0.09686	0.15386	N	AEFDBI	0.169139	0.29595	N	-0.272555152267224	0.30211	1.682488	-0.36775310906194	0.25965	1.431206	0.999654676407947	0.41424	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	5.93	0.919	0.18518	1.367000	0.33809	2.329000	0.32183	0.674000	0.70861	0.997000	0.40164	1.000000	0.68203	0.088000	0.17685	0.244:0.0:0.622:0.134	6.555	0.21654	721	0.55360	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1622.43	40	chr22	50504410	.	G	A	1622.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.151;DP=556;ExcessHet=0;FS=3.477;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.217;SOR=0.54	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1485	9	0	1	0
chr22	50506312	50506312	G	A	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon4:c.C493T:p.R165C,LMF2:NM_033200:exon4:c.C568T:p.R190C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0652309030402	8.5e-05	.	0.0001	0	0	0	0	0.0002	0	0.0001	1.29e-05	2	154602	rs369957226	4.008e-05	4.173e-05	4.378e-05	3.628e-05	5.605e-05	3.165e-05	2.845e-05	2.827e-05	2.545e-05	0	5.605e-05	0	0	0	0	3.801e-05	0.0002	3.787e-05	4.6e-05	4.597e-05	5.139e-05	4.036e-05	0.0001	2.11e-05	1.527e-05	4.766e-05	3.34e-05	0	0	0	0	0	0	0	0.0001	0	0	0.043	0.43393	D	0.057	0.46406	T	1.0	0.90584	D	0.98	0.74843	D	0.000007	0.62929	D	0.109424	1	0.81001	D	3.375	0.91388	M	1.86	0.24285	T	-3.94	0.73378	D	0.688	0.69474	-0.6724	0.61720	T	0.192	0.54463	T	10	0.63569343	0.68768	D	0.065231	0.69517	D	0.294	0.61388	.	.	0.245660935333	0.24156	0.6503332190980121	0.64969	.	.	0.788398265839	0.80199	T	0.186447	0.53974	T	-0.036106	0.46525	T	-0.0203404	0.69006	D	0.895915746688843	0.54755	D	0.976102	0.95021	D	0.30524707	0.53371	0.22214288	0.47049	0.30524707	0.53371	0.22214288	0.47048	-9.416	0.72359	D	.	.	0.180	0.39151	B	.;.	.;.	6.386372	0.95125	34	0.99938504011787122	0.99698	0.97543	0.75437	D	AEFDBI	0.927985	0.91149	D	0.792736289133258	0.85647	8.639497	0.726185792658214	0.84367	8.272223	0.999999997856543	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.69	4.69	0.58546	7.519000	0.80715	9.770000	0.81549	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:0.0:1.0:0.0	16.574	0.84483	721	0.55360	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2416.43	36	chr22	50506312	.	G	A	2416.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.486;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.82;ReadPosRankSum=-0.061;SOR=0.663	GT:AD:DP:GQ:PL	0/1:63,100:163:99:2428,0,1336	9	0	1	0
chr22	50518185	50518185	G	A	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon7:c.G553A:p.V185I,NCAPH2:NM_014551:exon7:c.G553A:p.V185I,NCAPH2:NM_152299:exon7:c.G553A:p.V185I	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	.	7.7e-05	0.00239617	0.0015	9.667e-05	0.0003	0.0007	0	0.0002	0.0011	0.0095	0.0013066	202	154602	rs141520277	0.0007	0.0007	0.0004	0.0010	0.0097	0.0007	0.0007	0.0091	0.0089	2.987e-05	0.0002	0	0.0004	0.0001	0.0007	9.892e-05	0.0009	0.0097	0.0004	0.0004	0.0002	0.0007	0.0089	0.0004	0.0003	0.0068	0.0061	0.0001	0	0.0005	0	0.0002	9.413e-05	0	0.0002	0	0.0089	0.441	0.10482	T	0.662	0.10317	T	0.002	0.09854	B	0.002	0.06944	B	0.302923	0.14566	N	0.680496	0.999956	0.19072	N	-0.55	0.02420	N	.	.	.	-0.25	0.12661	N	0.115	0.12484	-0.9903	0.32525	T	0.026	0.11309	T	9	0.0058460534	0.00131	T	.	.	.	0.102	0.29158	.	.	0.043077524339	0.03247	0.15264807490715637	0.15186	0.0876526127641	0.09892	0.26955395937	0.06083	T	0.062638	0.31969	T	-0.530691	0.00380	T	-0.527401	0.19548	T	0.0134559734271834	0.00245	T	0.526647	0.21331	T	0.016304871	0.00189	0.020559615	0.00142	0.016304871	0.00189	0.020559615	0.00142	-4.001	0.30229	T	.	.	0.067	0.06205	B	.;.;.;.;.	.;.;.;.;.	2.317690	0.29672	18.20	0.90085364007390722	0.19369	0.22735	0.21846	N	AEFBCI	0.034646	0.04329	N	-0.986672695720712	0.08887	0.4184748	-0.77080244989161	0.15211	0.7989128	0.995998143665359	0.34457	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.23	2.83	0.32150	2.972000	0.48948	3.962000	0.40756	-0.105000	0.15698	0.989000	0.36753	0.994000	0.32194	0.138000	0.19872	0.765:0.1521:0.0829:0.0	6.741	0.22623	641	0.64016	Condensin II complex subunit H2, middle domain;.;Condensin II complex subunit H2, middle domain;Condensin II complex subunit H2, middle domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.011364	0.05	1230.43	33	chr22	50518185	.	G	A	1230.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.718;DP=429;ExcessHet=0;FS=2.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.634;SOR=0.464	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1290	9	0	1	0
chr22	50556402	50556402	C	A	exonic	SYCE3	.	nonsynonymous SNV	SYCE3:NM_001123225:exon2:c.G4T:p.D2Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0467710545259	0.0022	0.00139776	0.0009	0.0073	0.0024	0	0	0.0001	0	0.0001	0.0002264	35	154602	rs138319189	0.0002	0.0002	0.0002	0.0002	0.0074	0.0002	0.0002	0.0067	0.0064	0.0074	0.0003	0	0	0	0.0005	1.855e-06	0.0006	2.525e-05	0.0024	0.0024	0.0024	0.0024	0.0083	0.0022	0.0021	0.0076	0.0073	0.0083	0	0.0008	0	0	0	0.0034	1.47e-05	0.0028	0	0.031	0.45039	D	0.084	0.41239	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.994951	0.42484	D	.	.	.	0.77	0.49642	T	-1.15	0.29525	N	0.198	0.23632	-0.8930	0.48668	T	0.092	0.35038	T	8	0.0062077343	0.00140	T	0.046771	0.62615	D	0.063	0.18251	.	.	0.576212830723	0.57290	0.7573529543399594	0.75683	.	.	0.7505235672	0.74524	T	0.124591	0.44973	T	-0.510762	0.00497	T	-0.499201	0.22430	T	0.00789776804348384	0.00093	T	0.322368	0.06563	T	0.2315951	0.45933	0.24911918	0.50476	0.2315951	0.45933	0.24911918	0.50475	-4.979	0.36611	T	.	.	0.131	0.28086	B	.;.	.;.	3.652430	0.51842	23.2	0.63868491206143085	0.07338	0.96834	0.71191	D	AEFBI	0.645644	0.62146	D	-0.0300852706319451	0.40498	2.405935	0.104705550443986	0.44787	2.753898	0.994419781520435	0.33626	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	5.117000	0.64504	7.331000	0.58204	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.538000	0.29892	0.0:1.0:0.0:0.0	16.931	0.86060	584	0.69381	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001217	0.005263	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1445.43	33	chr22	50556402	.	C	A	1445.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.308;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.01;ReadPosRankSum=-0.065;SOR=0.716	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1043	9	0	1	0
chr22	50572903	50572903	C	T	exonic	CPT1B	.	nonsynonymous SNV	CPT1B:NM_001145134:exon10:c.G1222A:p.A408T,CPT1B:NM_001145137:exon10:c.G1324A:p.A442T,CPT1B:NM_001145135:exon11:c.G1324A:p.A442T,CPT1B:NM_004377:exon11:c.G1324A:p.A442T,CPT1B:NM_152245:exon11:c.G1324A:p.A442T,CPT1B:NM_152246:exon11:c.G1324A:p.A442T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.0601826744322	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247337562	2.744e-06	3.42e-06	1.363e-06	4.142e-06	2.32e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	0	3.324e-05	2.32e-05	6.569e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.22	0.18956	T	0.247	0.25135	T	0.287	0.32229	B	0.217	0.37636	B	0.000074	0.52346	D	0.170615	0.99816	0.44581	D	0.55	0.14455	N	-2.47	0.88997	D	-0.38	0.18248	N	0.35	0.40364	-0.4616	0.70014	T	0.464	0.79273	T	10	0.26291424	0.43765	T	0.060183	0.67916	D	0.243	0.54921	0.57	0.69299	0.838405115158	0.83686	0.5926167342360834	0.59191	.	.	0.540082097054	0.44456	T	0.381032	0.74344	T	-0.0669955	0.41805	T	-0.152483	0.59023	T	0.253366918699887	0.23023	T	0.954805	0.82790	D	0.08403632	0.19431	0.11395912	0.27505	0.08403632	0.19431	0.11395912	0.27505	-8.13	0.61953	D	.	.	0.091	0.27702	B	.;.;.;.;.	.;.;.;.;.	3.732909	0.53412	23.4	0.99413821022577464	0.63405	0.88740	0.48813	D	AEFDBI	0.252380	0.37208	N	-0.310700526235894	0.28741	1.587786	-0.182173325228077	0.32191	1.829041	0.00922569437812714	0.11818	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.98	1.52	0.22158	2.924000	0.48572	2.629000	0.33681	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2936:0.6241:0.0:0.0824	7.337	0.25788	584	0.69381	Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.003497	0.000000	0.000000	0.000000	0.000000	0.05	569.43	48	chr22	50572903	.	C	T	569.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.358;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=1.39;SOR=0.56	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	9	0	1	0
chrX	6533750	6533750	C	T	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G556A:p.V186M	.	434	1062	26	0	0	26	0.012093	.	.	.	3886662	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	.	.	0.0109	0.0078	0.0053	0	0.0141	0.0140	0.0103	0.0102	0.0002135	33	154602	rs74393938	0.0014	0.0055	0.0019	0.0003	0.0017	0.0013	0.0013	0.0014	0.0013	0.0008	0.0008	0.0047	0.0002	0.0033	0.0003	0.0012	0.0022	0.0017	0.0030	0.0069	0.0041	0	0.0035	0.0027	0.0026	0.0028	0.0026	0.0035	0	0.0018	0.0029	0.0003	0.0071	0	0.0028	0.0055	0.0017	0.0	0.91255	D	0.101	0.38596	T	0.982	0.60036	D	0.729	0.55225	P	.	.	.	.	0.999973	0.19072	N	0.695	0.17993	N	1.91	0.23283	T	0.14	0.05405	N	0.075	0.25867	-1.0439	0.16148	T	0.046	0.19800	T	8	0.0052250326	0.00114	T	.	.	.	0.057	0.16321	.	.	.	.	0.010725019350369076	0.01033	0.268142659766	0.29341	0.496027678251	0.38275	T	0.001791	0.01214	T	-0.39512	0.02492	T	-0.805339	0.01772	T	0.0207467507570982	0.00774	T	0.432757	0.11777	T	0.15995844	0.35904	0.15014142	0.35422	0.15995844	0.35904	0.15014142	0.35422	-4.895	0.35678	T	.	.	0.144	0.33573	B	.;.;.	.;.;.	0.449974	0.08202	4.937	0.85326322252058417	0.15823	0.04088	0.09549	N	AEFI	.	.	.	.	.	.	.	.	.	7.46993312473294E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.463	0.15912	-0.735000	0.04992	0.109000	0.14755	0.173000	0.17773	0.000000	0.06391	0.012000	0.20211	0.002000	0.04165	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.075304	0.057692	0.100935	0.063953	0.000000	0.048193	0.057292	0.040462	0.1111	927.46	606	chrX	6533750	.	C	T	927.46	.	AC=2;AF=0.111;AN=18;BaseQRankSum=3.31;DP=1715;ExcessHet=0.2348;FS=11.274;InbreedingCoeff=-0.1467;MLEAC=2;MLEAF=0.111;MQ=50.12;MQRankSum=-1.865;QD=2.01;ReadPosRankSum=2.76;SOR=1.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1249:.	7	0	2	1
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0059	0.0058	0.0016	0.0098	0.0043	0.0043	0.0088	0.0085	0.0014	0.0046	0.0098	0.0098	0.0174	0.0058	0.0036	0.0063	0.0023	0.0017	0.0036	0.0022	0.0003	0.0021	0.0015	0.0014	0.0018	0.0016	0.0007	0	0.0020	0.0041	0.0021	0.0012	0.0104	0.0021	0.0030	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	5958.23	606	chrX	6533758	.	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	5958.23	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.06;DP=1766;ExcessHet=0;FS=39.705;InbreedingCoeff=0.5912;MLEAC=1;MLEAF=0.05;MQ=48.87;MQRankSum=-1.097;QD=14.5;ReadPosRankSum=4.49;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1249	9	0	1	0
chrX	6533758	6533758	-	GTTCTTCCATCTCGCTTTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	exonic	VCX3A	.	nonframeshift insertion	VCX3A:NM_016379:exon3:c.547_548insCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAAAGCGAGATGGAAGAAC:p.E182_L183insPLSQESQVEEPLSQESEMEE	.	425	1048	35	4	10	53	0.0201029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.054e-05	8.109e-05	7.508e-05	6.128e-05	0.0003	5.728e-05	5.292e-05	4.931e-05	4.471e-05	0	0	0	0	0.0004	0.0003	6.324e-05	0.0001	1.863e-05	6.941e-05	7.125e-05	7.997e-05	3.873e-05	0.0001	3.179e-05	2.25e-05	3.964e-05	2.571e-05	3.653e-05	0	0	0.0004	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5958.23	606	chrX	6533758	.	A	AGTTCTTCCATCTCGCTTTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	5958.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.06;DP=1766;ExcessHet=0;FS=39.705;InbreedingCoeff=0.5912;MLEAC=2;MLEAF=0.1;MQ=48.87;MQRankSum=-1.097;QD=14.5;ReadPosRankSum=4.49;SOR=0.757	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1249	9	1	0	0
chrX	6533823	6533823	C	0	exonic	VCX3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2480.08	536	chrX	6533823	.	C	*	2480.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-0.647;DP=1689;ExcessHet=3.1439;FS=0;InbreedingCoeff=-0.2795;MLEAC=3;MLEAF=0.375;MQ=43.28;MQRankSum=2.7;QD=6.09;ReadPosRankSum=-1.527;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,5:44:82:.:.:82,0,1617:.	2	0	2	6
chrX	6533828	6533828	C	0	exonic	VCX3A	.	.	.	.	589	631	262	5	35	307	0.177314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2213.76	525	chrX	6533828	.	C	*	2213.76	.	AC=2;AF=0.25;AN=8;BaseQRankSum=1.77;DP=1645;ExcessHet=1.1394;FS=0.808;InbreedingCoeff=-0.1733;MLEAC=3;MLEAF=0.375;MQ=44.04;MQRankSum=2.51;QD=6.05;ReadPosRankSum=-2.447;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,5:44:82:.:.:82,0,1617:.	2	0	2	6
chrX	6533883	6533883	T	0	exonic	VCX3A	.	.	.	.	601	892	23	0	6	29	0.0127283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	129.62	299	chrX	6533883	.	T	*	129.62	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.041;DP=1121;ExcessHet=0.2348;FS=3.546;InbreedingCoeff=-0.2137;MLEAC=1;MLEAF=0.071;MQ=36.89;MQRankSum=0.109;QD=0.46;ReadPosRankSum=-2.69;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1186:.	6	0	1	3
chrX	6533918	6533918	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G388C:p.V130L	.	544	964	11	0	3	14	0.00567303	.	.	.	1318923	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00113823230889	.	.	4.171e-05	0	0.0001	0.0002	0	2.631e-05	0	0	0.0001537	4	26028	rs780354662	0.0006	0.0027	0.0008	0.0001	0.0045	0.0006	0.0005	0.0039	0.0036	0.0002	0.0045	0.0008	0.0003	0.0010	0.0008	0.0005	0.0009	0.0004	0.0027	0.0049	0.0035	0	0.0095	0.0024	0.0023	0.0076	0.0070	0.0020	0.0101	0.0095	0.0014	0.0007	0.0011	0	0.0023	0.0047	0.0012	0.49	0.07994	T	0.409	0.14588	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.23600	N	0.755	0.19153	N	2.2	0.18570	T	-1.11	0.28703	N	0.043	0.01577	-0.9677	0.37673	T	0.018	0.07423	T	8	0.0094252825	0.00213	T	0.001138	0.01410	T	0.007	0.00512	0.176	0.08257	0.043077524339	0.03247	0.0029763199075203426	0.00277	0.262585590398	0.28824	0.465717852116	0.34094	T	0.005635	0.05080	T	-0.812437	0.00006	T	-1.0337	0.00085	T	0.006969164911672	0.00079	T	0.438156	0.12052	T	0.095408544	0.22454	0.074618824	0.16342	0.095408544	0.22454	0.074618824	0.16342	-7.177	0.55316	T	.	.	0.159	0.35204	B	.	.	-0.490809	0.01897	0.157	0.28057428731072176	0.01423	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.32790682951601E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.896000	0.01696	-1.954000	0.04440	-1.658000	0.00817	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.624	0.22011	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	299.43	172	chrX	6533918	.	C	G	299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.874;DP=507;ExcessHet=0;FS=25.233;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.65;MQRankSum=-3.588;QD=21.39;ReadPosRankSum=-3.004;SOR=2.199	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1186	9	0	1	0
chrX	7843857	7843976	GAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	-	exonic	VCX	.	nonframeshift deletion	VCX:NM_013452:exon3:c.462_581del:p.V160_E199del	.	491	1013	15	2	1	20	0.00929095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0	0.0004	0	0.0005	0	0.0002	.	.	.	.	0.0011	0.0015	0.0010	0.0012	0.0012	0.0010	0.0010	0.0009	0.0009	0.0003	0.0007	0.0028	0.0002	0.0031	0.0012	0.0009	0.0017	0.0011	0.0021	0.0026	0.0024	9.715e-05	0.0030	0.0018	0.0017	0.0024	0.0022	0.0030	0.0026	0.0021	0.0019	0	0.0016	0	0.0018	0.0013	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	633.39	78	chrX	7843856	.	TGAGTCAGGAGAGCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACC	T	633.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=1063;ExcessHet=0;FS=1.846;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.05;MQRankSum=5.29;QD=3.37;ReadPosRankSum=-0.913;SOR=0.859	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	9	0	1	0
chrX	7843869	7843869	C	0	exonic	VCX	.	.	.	.	476	994	38	2	12	54	0.0206897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	255.58	255	chrX	7843869	.	C	*	255.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.792;DP=1214;ExcessHet=0.2348;FS=6.483;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=41.71;MQRankSum=1.51;QD=0.63;ReadPosRankSum=2.77;SOR=0.375	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1221	9	0	1	0
chrX	7843933	7843933	A	0	exonic	VCX	.	.	.	.	462	969	41	24	26	115	0.0439073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2855.6	268	chrX	7843933	.	A	*	2855.6	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.48;DP=2088;ExcessHet=0.8432;FS=4.354;InbreedingCoeff=-0.1556;MLEAC=1;MLEAF=0.071;MQ=48.67;MQRankSum=-1.363;QD=3.44;ReadPosRankSum=-4.535;SOR=1.105	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:176,0:176:0:.:.:0,0,217:.	6	0	1	3
chrX	7843963	7843963	G	A	exonic	VCX	.	nonsynonymous SNV	VCX:NM_013452:exon3:c.G568A:p.V190M	.	437	977	32	24	52	132	0.0393314	.	.	.	2823790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.114	.	.	0.00397351	0.0023	0.0005	0.0015	0	0.0064	0.0024	0.0034	0.0033	0.0033311	515	154602	rs201876650	0.0058	0.0087	0.0070	0.0034	0.0127	0.0057	0.0056	0.0090	0.0078	0.0004	0.0027	0.0047	4.041e-05	0.0127	0.0127	0.0060	0.0058	0.0058	0.0042	0.0065	0.0052	0.0001	0.0066	0.0038	0.0037	0.0059	0.0056	0.0006	0	0.0016	0.0077	0	0.0070	0	0.0066	0.0033	0.0061	0.138	0.25873	T	0.106	0.37872	T	0.96	0.55278	D	0.35	0.42815	B	.	.	.	.	1	0.08975	N	0.255	0.09829	N	1.95	0.22474	T	-0.73	0.25986	N	0.067	0.03956	-0.9754	0.36037	T	0.015	0.06090	T	8	0.0065913796	0.00149	T	.	.	.	0.114	0.32008	.	.	0.043077524339	0.03247	0.0032430097609367696	0.00302	0.354020575304	0.37190	0.454822123051	0.32603	T	0.011581	0.10309	T	-0.720018	0.00028	T	-0.892538	0.00557	T	0.00885473886292793	0.00110	T	0.460954	0.13351	T	0.105991945	0.25061	0.08594243	0.19877	0.105991945	0.25061	0.08594243	0.19877	-6.074	0.46894	T	.	.	0.125	0.26514	B	.;.	.;.	1.214405	0.16076	12.30	0.56313972898184261	0.05526	0.00026	0.00253	N	AEFI	.	.	.	.	.	.	.	.	.	2.63253077637493E-4	0.06244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.318000	0.02813	-3.812000	0.02521	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.6784:0.3216:0.0	5.945	0.18451	1000	0.00083	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.007212	0.010753	0.001873	0.011628	0.000000	0.012048	0.010582	0.011561	0.0625	1387.9	268	chrX	7843963	.	G	A	1387.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.865;DP=2148;ExcessHet=0.2633;FS=0;InbreedingCoeff=0.0188;MLEAC=1;MLEAF=0.063;MQ=54.76;MQRankSum=-12.94;QD=3.13;ReadPosRankSum=0.484;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:176,0:176:0:.:.:0,0,217:.	7	0	1	2
chrX	7843963	7843963	G	0	exonic	VCX	.	.	.	.	437	977	32	24	52	132	0.0393314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	1387.9	268	chrX	7843963	.	G	*	1387.9	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.865;DP=2148;ExcessHet=0.2633;FS=0;InbreedingCoeff=0.0188;MLEAC=1;MLEAF=0.063;MQ=54.76;MQRankSum=-12.94;QD=3.13;ReadPosRankSum=0.484;SOR=0.61	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:176,0:176:0:.:.:0,0,217:.	7	0	1	2
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	49411.6	293	chrX	7843976	.	C	*	49411.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=2757;ExcessHet=1.5895;FS=0.561;InbreedingCoeff=-0.25;MLEAC=2;MLEAF=0.1;MQ=50.26;MQRankSum=-10.23;QD=18.45;ReadPosRankSum=1.56;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:261:99:.:.:8585,7213,7574:.	8	0	2	0
chrX	8170097	8170097	-	GCTCTCCTGACTCAGTGGTTCCTCCACCTG	exonic	VCX2	.	nonframeshift insertion	VCX2:NM_016378:exon3:c.354_355insCAGGTGGAGGAACCACTGAGTCAGGAGAGC:p.S118_E119insQVEEPLSQES	.	431	1063	15	11	2	39	0.0171059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0037	0.0011	0.0002	0.0036	0.0030	0	0.0008	0.0025161	389	154602	rs770371411	0.0055	0.0055	0.0054	0.0055	0.0073	0.0053	0.0053	0.0065	0.0062	0.0073	0.0042	0.0029	0.0027	0.0236	0.0073	0.0048	0.0074	0.0032	0.0029	0.0054	0.0035	0.0005	0.0033	0.0026	0.0025	0.0028	0.0027	0.0026	0	0.0015	0.0025	0.0004	0.0067	0	0.0033	0.0008	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3251.08	182	chrX	8170097	.	C	CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	3251.08	.	AC=2;AF=0.1;AN=20;DP=1229;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=57.81;QD=28.97;SOR=0.892	GT:AD:DP:GQ:PL	0/0:91,0:91:99:0,120,1800	9	1	0	0
chrX	8465953	8465953	T	C	exonic	VCX3B	.	nonsynonymous SNV	VCX3B:NM_001001888:exon3:c.T311C:p.L104P	.	583	926	13	0	0	13	0.00697051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.0148344	0.0091	0.02	0	0.0101	0.0024	0.0054	0.0183	0.0597	0.0004075	63	154602	rs757924718	0.0021	0.0041	0.0029	0.0005	0.0163	0.0021	0.0020	0.0150	0.0144	0.0100	0.0012	0.0005	0.0163	0.0012	0.0039	0.0011	0.0027	0.0097	0.0064	0.0084	0.0078	7.195e-05	0.0326	0.0059	0.0057	0.0259	0.0234	0.0128	0	0.0021	0.0010	0.0326	0.0014	0.0184	0.0030	0.0010	0.0193	0.077	0.34095	T	0.028	0.92824	D	0.995	0.67487	D	0.914	0.64984	D	.	.	.	.	0.999672	0.27400	N	2.215	0.62545	M	1.34	0.34841	T	-3.12	0.67705	D	0.077	0.31478	-0.9992	0.30143	T	0.117	0.41253	T	8	0.0037917495	0.00071	T	.	.	.	0.033	0.08068	.	.	0.0716867268079	0.06686	0.01163524341529036	0.01123	1.41972277544	0.85595	0.461865663528	0.33567	T	0.020686	0.16245	T	-0.669382	0.00055	T	-0.72391	0.04609	T	0.0342637401029684	0.02682	T	0.387861	0.15733	T	0.5320773	0.68949	0.47997195	0.69881	0.5320773	0.68950	0.47997195	0.69881	-4.74	0.33884	T	.	.	0.152	0.44227	B	.;.;.	.;.;.	1.555792	0.19936	14.51	0.48072168084454964	0.03982	0.01121	0.04088	N	AEFI	.	.	.	.	.	.	.	.	.	1.37016822449587E-4	0.05486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.654	0.17006	0.189000	0.16845	-1.360000	0.05625	0.304000	0.19002	0.017000	0.19353	0.000000	0.08366	0.009000	0.08673	.	.	.	1000	0.00083	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007641	0.000000	0.006276	0.007092	0.000000	0.013699	0.000000	0.020548	0.0625	412.73	24	chrX	8465953	.	T	C	412.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-4.629;DP=214;ExcessHet=0;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=34.9;MQRankSum=1.67;QD=10.32;ReadPosRankSum=2.03;SOR=0.754	GT:AD:DP:GQ:PL	0/0:20,0:20:60:0,60,806	7	0	1	2
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:21:0|1:10469688_G_A:21,0,1780:10469688	2	0	8	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,6:55:21:0|1:10469688_G_A:21,0,1780:10469688	2	0	8	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	855.13	159	chrX	10469693	.	T	C	855.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.741;DP=818;ExcessHet=2.8389;FS=132.372;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=0.056;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1122:.	5	0	5	0
chrX	11298822	11298822	T	G	exonic	AMELX	.	nonsynonymous SNV	AMELX:NM_182681:exon4:c.T371G:p.M124R,AMELX:NM_001142:exon5:c.T419G:p.M140R,AMELX:NM_182680:exon6:c.T461G:p.M154R	Amelogenesis imperfecta, type 1E, X-linked dominant	.	.	.	.	.	.	.	.	.	.	3269141	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.388	0.0378976658795	.	.	0.0001	0	0	0	0	0.0002	0	0	8.41e-05	13	154602	rs753460403	4.19e-05	4.188e-05	3.539e-05	5.504e-05	0.0002	3.211e-05	2.872e-05	3.734e-05	3.31e-05	0	0	0	0	0	0.0002	4.988e-05	6.51e-05	0	2.718e-05	2.617e-05	2.575e-05	3.06e-05	5.686e-05	7.22e-06	3e-06	1.509e-05	8.18e-06	0	0	0	0	0	0	0	5.686e-05	0	0	0.054	0.38633	T	0.32	0.19131	T	0.036	0.27697	B	0.037	0.26930	B	0.243092	0.15669	N	0.644569	0.998842	0.45546	D	1.895	0.50365	L	-2.32	0.87830	D	-2.41	0.52938	N	0.544	0.58883	-0.2404	0.76616	T	0.570	0.84440	D	10	0.27935392	0.45508	T	0.037898	0.57897	D	0.388	0.70440	0.466	0.53729	0.970349058238	0.97003	0.2684882265780249	0.26761	0.341586652739	0.36092	0.425849348307	0.28641	T	0.889764	0.97751	D	-0.117331	0.33562	T	-0.19098	0.55499	T	0.0532661639168595	0.06064	T	0.778722	0.46599	T	0.7159908	0.78939	0.56142896	0.74623	0.7159908	0.78940	0.56142896	0.74624	-6.929	0.53580	T	.	.	0.289	0.52052	B	.;.;.	.;.;.	2.394557	0.30754	18.53	0.94630701022475383	0.25218	0.52396	0.29122	D	AEFBI	.	.	.	.	.	.	.	.	.	0.96075279939547	0.28509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	3.66	0.41111	2.180000	0.42167	3.103000	0.36327	0.609000	0.47794	1.000000	0.71638	0.999000	0.35428	0.986000	0.61781	0.0:0.0:0.1653:0.8347	10.208	0.42303	556	0.71678	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3100.12	34	chrX	11298822	.	T	G	3100.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.83;DP=448;ExcessHet=0;FS=3.443;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=32.63;ReadPosRankSum=0.419;SOR=0.571	GT:AD:DP:GQ:PL	0/0:41,0:41:99:0,99,1485	9	1	0	0
chrX	12721496	12721496	A	G	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368396:exon17:c.A4933G:p.K1645E,FRMPD4:NM_001368397:exon17:c.A4927G:p.K1643E,FRMPD4:NM_001368395:exon19:c.A5038G:p.K1680E	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	35.14	2	chrX	12721496	.	A	G	35.14	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	./.:.:.:.:.	3	0	1	6
chrX	19006244	19006244	C	T	exonic	ADGRG2	.	nonsynonymous SNV	ADGRG2:NM_001184835:exon18:c.G1597A:p.V533I,ADGRG2:NM_001079860:exon19:c.G1645A:p.V549I,ADGRG2:NM_001184836:exon19:c.G1639A:p.V547I,ADGRG2:NM_001184837:exon19:c.G1621A:p.V541I,ADGRG2:NM_001079859:exon20:c.G1669A:p.V557I,ADGRG2:NM_001184833:exon20:c.G1663A:p.V555I,ADGRG2:NM_001079858:exon21:c.G1711A:p.V571I,ADGRG2:NM_001184834:exon21:c.G1711A:p.V571I,ADGRG2:NM_005756:exon21:c.G1702A:p.V568I	Vas deferens, congenital bilateral aplasia of, X-linked, X-linked	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.506	0.199608050538	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.126e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.68238	D	0.017	0.61642	D	0.982	0.62824	D	0.889	0.66722	P	0.018258	0.27526	N	0.253396	0.999999	0.58761	D	.	.	.	-0.69	0.72678	T	-0.93	0.25770	N	0.398	0.44474	0.291	0.87420	D	0.583	0.85026	D	10	0.5254202	0.62881	D	0.199608	0.86661	D	0.506	0.78724	0.629	0.76478	0.722859865974	0.72041	0.6416323352482324	0.64098	0.996152370031	0.74244	0.469520270824	0.34614	T	0.47716	0.80751	T	0.033539	0.56193	T	-0.1896	0.55628	T	0.945970356464386	0.62372	D	0.949505	0.93643	D	0.35900885	0.57760	0.37994355	0.63038	0.35900885	0.57761	0.37994355	0.63038	-10.458	0.77094	D	.	.	0.248	0.50835	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.404048	0.68072	25.2	0.99843338897045975	0.92316	0.94748	0.62194	D	AEFHCI	.	.	.	.	.	.	.	.	.	0.999999999961142	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	5.6	0.84997	7.312000	0.78274	7.619000	0.62229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.707	0.91605	215	0.91651	.;.;.;.;.;.;GPS motif|GPS motif|GPS motif;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1920.12	34	chrX	19006244	.	C	T	1920.12	.	AC=2;AF=0.1;AN=20;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.09;SOR=1.112	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,102,1370	9	1	0	0
chrX	19007306	19007306	C	T	exonic	ADGRG2	.	nonsynonymous SNV	ADGRG2:NM_001184835:exon17:c.G1504A:p.V502I,ADGRG2:NM_001079860:exon18:c.G1552A:p.V518I,ADGRG2:NM_001184836:exon18:c.G1546A:p.V516I,ADGRG2:NM_001184837:exon18:c.G1528A:p.V510I,ADGRG2:NM_001079859:exon19:c.G1576A:p.V526I,ADGRG2:NM_001184833:exon19:c.G1570A:p.V524I,ADGRG2:NM_001079858:exon20:c.G1618A:p.V540I,ADGRG2:NM_001184834:exon20:c.G1618A:p.V540I,ADGRG2:NM_005756:exon20:c.G1609A:p.V537I	Vas deferens, congenital bilateral aplasia of, X-linked, X-linked	427	1093	1	1	0	3	0.00137049	.	.	.	1018962	Vas_deferens,_congenital_bilateral_aplasia_of,_X-linked	MONDO:MONDO:0010511,MedGen:C4310815,OMIM:300985	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.117	0.355043431874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.292e-05	3.369e-05	3.812e-05	2.229e-05	0.0075	2.41e-05	2.139e-05	0.0054	0.0047	0	0	0	0	0	0.0075	4.774e-06	2.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.13566	T	0.254	0.23433	T	0.174	0.28827	B	0.309	0.41361	B	0.000090	0.51296	D	0.000000	0.999953	0.81001	D	.	.	.	1.46	0.32238	T	0.22	0.04694	N	0.267	0.30233	-1.0911	0.05351	T	0.074	0.29865	T	10	0.24090284	0.41259	T	0.355043	0.92368	D	0.117	0.32689	0.431	0.48007	0.332276917938	0.32835	0.330266794788699	0.32939	0.469536968289	0.46258	0.53571498394	0.43841	T	0.089113	0.38302	T	-0.169049	0.25379	T	-0.480603	0.24382	T	0.750431418418884	0.43309	D	0.880112	0.59716	D	0.10649234	0.25181	0.13962427	0.33308	0.10649234	0.25181	0.13962427	0.33307	-6.776	0.53939	T	.	.	0.088	0.13174	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.970770	0.39591	21.0	0.99694639151532571	0.80180	0.98863	0.87857	D	AEFDGI	.	.	.	.	.	.	.	.	.	0.999999997643772	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.76	5.76	0.90726	5.387000	0.65993	4.858000	0.45442	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	18.891	0.92377	197	0.92378	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.006207	0.013605	0.003711	0.015810	0.000000	0.011765	0.000000	0.000000	0.1	1382.12	34	chrX	19007306	.	C	T	1382.12	.	AC=2;AF=0.1;AN=20;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.79;SOR=1.298	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1485	9	1	0	0
chrX	19670872	19670872	A	T	exonic	SH3KBP1	.	startloss	SH3KBP1:NM_001184960:exon1:c.T2A:p.M1?,SH3KBP1:NM_001353897:exon1:c.T2A:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.70525855371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.93	0.44065	T	0.92	0.01573	N	0.897	0.89689	-0.6039	0.64656	T	0.234	0.60112	T	8	0.99084127	0.99597	D	0.705259	0.97594	D	0.335	0.65718	0.891	0.97367	0.870825782553	0.86956	.	.	.	.	.	.	.	.	.	.	-0.135806	0.30560	T	-0.432852	0.29611	T	0.917128324508667	0.57483	D	0.9	0.65058	D	.	.	.	.	.	.	.	.	-4.286	0.27980	T	.	.	.	.	.	.	.	2.466728	0.31786	18.85	0.94594489098654544	0.25149	0.93989	0.59779	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	6.199000	0.72039	11.203000	0.89108	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.693	0.68712	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1163.43	78	chrX	19670872	.	A	T	1163.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.748;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.756;SOR=0.669	GT:AD:DP:GQ:PL	0/0:33,0:33:73:0,73,908	9	0	1	0
chrX	22273563	22273563	C	T	exonic	CBLL2	.	nonsynonymous SNV	CBLL2:NM_152577:exon1:c.C572T:p.P191L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0901992998527	.	0.000264901	1.144e-05	0.0001	0	0	0	0	0	0	1.94e-05	3	154602	rs187258946	1.823e-06	1.821e-06	2.722e-06	0	7.584e-05	3e-07	1.1e-07	1.255e-05	4.69e-06	7.584e-05	0	0	0	0	0	0	0	0	8.957e-06	8.703e-06	0	2.958e-05	3.26e-05	0	0	.	.	3.26e-05	0	0	0	0	0	0	0	0	0	0.192	0.20988	T	0.283	0.21478	T	0.675	0.41275	P	0.091	0.29943	B	0.051492	0.22977	N	0.414041	0.999968	0.18878	N	.	.	.	1.39	0.33842	T	-3.36	0.66549	D	0.21	0.23380	-1.0591	0.11981	T	0.050	0.21222	T	10	0.09459221	0.16830	T	0.090199	0.75472	D	0.050	0.13987	.	.	0.0401082797425	0.02173	0.3513259426761962	0.35046	0.738883210993	0.63125	0.21640586853	0.01113	T	0.005009	0.04439	T	-0.371685	0.03509	T	-0.771676	0.02713	T	0.152590383755824	0.17308	T	0.442056	0.12263	T	0.04594244	0.07608	0.08490266	0.19565	0.04594244	0.07607	0.08490266	0.19565	-5.262	0.39566	T	.	.	0.120	0.24800	B	.	.	1.552788	0.19898	14.49	0.95675336032870584	0.27526	0.08971	0.14817	N	AEFGI	.	.	.	.	.	.	.	.	.	4.46483686073756E-4	0.07004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.25	-0.709	0.10671	1.232000	0.32238	-2.931000	0.03218	-0.176000	0.10722	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.5556:0.0:0.4444	7.670	0.27622	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1691.12	147	chrX	22273563	.	C	T	1691.12	.	AC=2;AF=0.1;AN=20;DP=565;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.67;SOR=0.877	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1714,170,0	9	1	0	0
chrX	24364309	24364312	GCTC	0	exonic	SUPT20HL1	.	.	.	.	367	1045	21	4	85	114	0.0136857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	387.08	116	chrX	24364309	.	GCTC	*	387.08	.	AC=2;AF=0.1;AN=20;DP=706;ExcessHet=0.0405;FS=3.191;InbreedingCoeff=0.5699;MLEAC=2;MLEAF=0.1;MQ=60;QD=4.96;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:47,0:47:99:.:.:0,99,1485:.	8	0	2	0
chrX	24364310	24364336	CTCCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	0	189	21	5	11	42	0.0757946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	980.93	116	chrX	24364310	.	CTCCTGCTCCTGCTCTAGCTGCTGCTG	*	980.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.6;DP=702;ExcessHet=0.0405;FS=2.962;InbreedingCoeff=0.5699;MLEAC=2;MLEAF=0.1;MQ=59.9;MQRankSum=0;QD=11.96;ReadPosRankSum=1.75;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:44,0:44:63:.:.:0,63,1413:.	9	1	0	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	891.6	89	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	891.6	.	AC=5;AF=0.313;AN=16;BaseQRankSum=0.018;DP=696;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.3406;MLEAC=6;MLEAF=0.375;MQ=59.94;MQRankSum=0;QD=5.24;ReadPosRankSum=3.95;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:41,0:41:0:.:.:0,0,1159:.	5	2	1	2
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	516.19	42	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*	516.19	.	AC=4;AF=0.2;AN=20;DP=658;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.5238;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=3.91;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,99,1364:.	7	1	2	0
chrX	27460881	27460881	C	A	exonic	PPP4R3C	.	stopgain	PPP4R3C:NM_207319:exon1:c.G2416T:p.E806X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.771179	0.77233	26.7	0.5617988358136039	0.05497	0.14904	0.18645	N	AEFI	.	.	.	.	.	.	.	.	.	1.18809282208356E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0443366	0.03230	3.25	0.363	0.15353	-0.040000	0.12056	-0.333000	0.09875	-0.360000	0.05510	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.0:0.5974:0.0:0.4026	6.627	0.22028	709	0.56835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	38.71	1	chrX	27460881	.	C	A	38.71	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=19.35;SOR=0.693	GT:AD:DP:GQ:PL	./.:.:.:.:.	4	1	0	5
chrX	27462060	27462060	C	A	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.G1237T:p.D413Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.20242	B	0.042	0.24114	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10513404	0.19417	T	.	.	.	.	.	.	.	.	.	0.252805400713279	0.25194	.	.	.	.	.	0.060629	0.31438	T	.	.	.	.	.	.	.	.	.	0.256074	0.03980	T	0.10046905	0.23722	0.1403559	0.33459	0.10046905	0.23722	0.1403559	0.33458	-4.006	0.23893	T	.	.	0.145	0.32079	B	.	.	0.835138	0.12065	8.621	0.72893456889119002	0.10133	0.02846	0.07600	N	AEFI	.	.	.	.	.	.	.	.	.	1.33951483526704E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0455939	0.04545	4.45	1.11	0.19640	0.596000	0.23744	-0.147000	0.11458	0.599000	0.40250	0.006000	0.17386	0.000000	0.08366	0.470000	0.28341	0.0:0.5494:0.0:0.4506	5.911	0.18267	654	0.62520	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.83	6	chrX	27462060	.	C	A	32.83	.	AC=2;AF=0.1;AN=20;DP=46;ExcessHet=0;FS=0;InbreedingCoeff=0.5482;MLEAC=1;MLEAF=0.05;MQ=60;QD=16.41;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,71	9	1	0	0
chrX	27463292	27463292	G	A	exonic	PPP4R3C	.	nonsynonymous SNV	PPP4R3C:NM_207319:exon1:c.C5T:p.A2V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.30008	B	0.086	0.29521	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10254136	0.18799	T	.	.	.	.	.	.	.	.	.	0.22131342728465525	0.22047	.	.	.	.	.	0.048662	0.28082	T	.	.	.	.	.	.	.	.	.	0.316668	0.06305	T	0.028472312	0.02189	0.07439113	0.16269	0.028472312	0.02188	0.07439113	0.16268	-6.335	0.48999	T	.	.	0.412	0.60232	A	.	.	0.111378	0.05106	1.639	0.75492423112391516	0.11096	0.50009	0.28564	D	AEFI	.	.	.	.	.	.	.	.	.	5.01881244539671E-5	0.03989	.	.	.	.	.	.	.	.	.	.	.	.	0.0443366	0.03230	4.33	-2.07	0.06873	1.375000	0.33900	-0.158000	0.11351	-0.824000	0.02932	0.913000	0.31760	0.000000	0.08366	0.001000	0.02609	0.1655:0.1204:0.3264:0.3877	1.713	0.02721	628	0.65206	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	31.46	0	chrX	27463292	.	G	A	31.46	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0;DP=11;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=7.87;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	4	0	1	5
chrX	27822288	27822288	G	A	exonic	MAGEB10	.	nonsynonymous SNV	MAGEB10:NM_182506:exon3:c.G982A:p.V328I	.	431	1057	19	15	0	49	0.0226537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0024	0.00741722	0.0064	0.0008	0.0008	0.0002	0.0046	0.0045	0.0174	0.0311	0.0060931	942	154602	rs146965052	0.0050	0.0050	0.0045	0.0062	0.0317	0.0049	0.0049	0.0304	0.0299	0.0006	0.0005	0.0050	6.622e-05	0.0052	0.0191	0.0037	0.0049	0.0317	0.0034	0.0035	0.0034	0.0034	0.0260	0.0031	0.0030	0.0211	0.0194	0.0006	0	0.0005	0.0057	0.0006	0.0051	0.0229	0.0043	0.0026	0.0260	0.572	0.06145	T	0.157	0.31730	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	4.7	0.01673	T	-0.36	0.13035	N	0.027	0.00571	-0.9027	0.47705	T	0.002	0.00676	T	9	0.002999872	0.00049	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.30905830003244733	0.30818	0.274155545098	0.29911	0.38194924593	0.22533	T	0.003	0.01994	T	-0.97411	0.00000	T	-1.14902	0.00008	T	0.00272581046394871	0.00028	T	0.119788	0.00924	T	0.028556041	0.02212	0.043278653	0.05349	0.028556041	0.02211	0.043278653	0.05349	-4.851	0.35179	T	.	.	0.078	0.07697	B	.;.	.;.	-0.436274	0.02080	0.193	0.44550226678641525	0.03433	0.00020	0.00220	N	AEFI	.	.	.	.	.	.	.	.	.	0.845199729666652	0.24940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.79	-3.16	0.04897	0.067000	0.14378	-0.627000	0.08144	-0.901000	0.02322	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2507:0.0:0.7493:0.0	11.516	0.49773	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.015862	0.000000	0.009276	0.011858	0.000000	0.047059	0.008850	0.047368	0.1	1336.12	37	chrX	27822288	.	G	A	1336.12	.	AC=2;AF=0.1;AN=20;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=33.4;SOR=1.151	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	1	0	0
chrX	32491292	32491292	C	G	exonic	DMD	.	nonsynonymous SNV	DMD:NM_000109:exon20:c.G2583C:p.Q861H,DMD:NM_004006:exon20:c.G2607C:p.Q869H,DMD:NM_004009:exon20:c.G2595C:p.Q865H,DMD:NM_004010:exon20:c.G2238C:p.Q746H	Becker muscular dystrophy, X-linked recessive;Cardiomyopathy, dilated, 3B, X-linked;Duchenne muscular dystrophy, X-linked recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	100423	Duchenne_muscular_dystrophy|Cardiovascular_phenotype|not_provided|Becker_muscular_dystrophy|Dystrophin_deficiency|Cardiomyopathy	MONDO:MONDO:0010679,MedGen:C0013264,OMIM:310200,Orphanet:98896|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0010311,MedGen:C0917713,OMIM:300376,Orphanet:98895|.|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0610916565765	.	.	5.698e-05	0	0	0	0	8.335e-05	0	9.878e-05	7.12e-05	11	154602	rs398123898	4.007e-05	4.006e-05	2.586e-05	6.879e-05	0.0005	3.037e-05	2.705e-05	8.516e-05	3.547e-05	0	0	0	0	0	0.0005	3.326e-05	0.0002	7.388e-05	4.452e-05	5.221e-05	5.14e-05	2.899e-05	9.385e-05	1.701e-05	1.045e-05	3.688e-05	2.388e-05	0	0	0	0	0	0	0	9.385e-05	0	0	0.165	0.23450	T	0.094	0.39799	T	0.005	0.12996	B	0.007	0.12992	B	0.003095	0.35449	U	0.000000	0.77123	0.34153	D	.	.	.	0.67	0.52187	T	-2.16	0.48850	N	0.377	0.42345	-1.0699	0.09436	T	0.080	0.31795	T	10	0.1790573	0.33021	T	0.061092	0.68219	D	0.061	0.17616	0.582	0.70861	0.602010829724	0.59883	0.4214835518902081	0.42064	0.0753087020864	0.08442	0.48566108942	0.36838	T	0.338063	0.70737	T	-0.377467	0.03232	T	-0.584347	0.14158	T	0.0524767003953457	0.05929	T	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47305	B	.;.;.;.	.;.;.;.	2.602255	0.33784	19.44	0.96243219841989613	0.29157	0.93708	0.58964	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0026877181337749	0.09631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.03	4.17	0.48303	1.400000	0.34186	2.646000	0.33784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1583:0.7581:0.0:0.0836	7.963	0.29240	645	0.63593	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.000000	0.000000	0.005263	0.1	1137.12	34	chrX	32491292	.	C	G	1137.12	.	AC=2;AF=0.1;AN=20;DP=343;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.92;SOR=1.329	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,976	9	1	0	0
chrX	37011352	37011352	C	T	exonic	FAM47C	.	nonsynonymous SNV	FAM47C:NM_001013736:exon1:c.C2942T:p.A981V	.	442	1077	2	1	0	4	0.00185357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00158015599224	0.0004	0.000794702	0.0006	0.0001	0.0002	0	0	0.0006	0	0.0017	0.0005627	87	154602	rs200986221	0.0006	0.0006	0.0006	0.0006	0.0039	0.0006	0.0006	0.0024	0.0020	0.0002	0.0003	5.165e-05	0	0.0001	0.0039	0.0006	0.0007	0.0014	0.0005	0.0006	0.0006	0.0004	0.0015	0.0004	0.0004	0.0006	0.0006	6.486e-05	0	0.0006	0.0004	0	0	0.0046	0.0008	0.0007	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	3.045	0.86684	M	0.85	0.47130	T	-3.7	0.70553	D	0.121	0.11197	-0.8342	0.53028	T	0.288	0.66007	T	8	0.027403772	0.00887	T	0.00158	0.02523	T	0.091	0.26358	.	.	0.383590876969	0.37966	0.07224352157520364	0.07161	0.576733969968	0.53626	0.412240058184	0.26766	T	0.199502	0.55679	T	-0.449666	0.01134	T	-0.448769	0.27832	T	0.08678783384658	0.10833	T	0.818618	0.47570	T	0.44358116	0.63632	0.4298475	0.66653	0.44358116	0.63633	0.4298475	0.66653	-6.801	0.52567	T	.	.	0.531	0.65959	A	.	.	2.590179	0.33598	19.39	0.99602916536774433	0.74338	0.02959	0.07794	N	AEFGBI	.	.	.	.	.	.	.	.	.	5.73669041342223E-5	0.04171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.502	0.16138	0.665000	0.24764	1.197000	0.24809	0.318000	0.19305	0.424000	0.26361	0.122000	0.22912	0.027000	0.12703	.	.	.	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.002755	0.000000	0.001855	0.000000	0.000000	0.011765	0.008889	0.000000	0.1	4677.12	36	chrX	37011352	.	C	T	4677.12	.	AC=2;AF=0.1;AN=20;DP=486;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.62;QD=33.17;SOR=0.996	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,99,1485	9	1	0	0
chrX	41342742	41342742	T	C	exonic	DDX3X	.	nonsynonymous SNV	DDX3X:NM_001193417:exon5:c.T401C:p.L134P,DDX3X:NM_001193416:exon6:c.T449C:p.L150P,DDX3X:NM_001356:exon6:c.T449C:p.L150P	Mental retardation, X-linked 102, X-linked recessive, X-linked dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.368	0.197333078672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.296e-07	1.098e-05	1.373e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	0.000013	0.62929	N	0.061588	1	0.81001	D	3.33	0.90841	M	1.75	0.26152	T	-6.27	0.90648	D	0.8	0.79889	-0.4382	0.70790	T	0.330	0.69809	T	10	0.5868119	0.66157	D	0.197333	0.86531	D	0.368	0.68757	0.479	0.55823	0.885084433051	0.88395	0.9883408913819848	0.98828	3.5385108973	0.99787	0.880453169346	0.94022	D	0.620388	0.88092	D	-0.0265147	0.47920	T	-0.275863	0.47226	T	0.997506201267242	0.91716	D	0.982502	0.94607	D	0.97501546	0.98708	0.9353828	0.97461	0.97501546	0.98708	0.9353828	0.97462	-16.03	0.97806	D	.	.	1.000	0.99585	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	6.536607	0.95367	34	0.99917132033924416	0.98518	0.95249	0.63992	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999900113	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	4.58	0.56077	8.017000	0.88732	7.929000	0.74923	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0739:0.0:0.9261	10.932	0.46436	672	0.60758	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	59.43	33	chrX	41342742	.	T	C	59.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.081;DP=490;ExcessHet=0;FS=47.74;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=-1.49;SOR=4.978	GT:AD:DP:GQ:PL	0/0:93,0:93:86:0,86,2007	9	0	1	0
chrX	43711977	43711977	G	C	splicing	MAOA	NM_001270458:exon5:c.12+1G>C;NM_000240:exon4:c.411+1G>C	.	.	Brunner syndrome, X-linked recessive	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.832e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736392	0.99964	D	0.82	0.99964	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.369539	0.90025	31	0.99460041581299097	0.65736	0.98664	0.85307	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999883	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.958413	0.64584	5.48	5.48	0.80675	8.797000	0.91506	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.419	0.90527	571	0.70397	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	117.82	60	chrX	43711977	.	G	C	117.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.379;DP=423;ExcessHet=0;FS=79.785;InbreedingCoeff=-0.0781;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=0.751;SOR=6.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:23,0:23:3:.:.:0,3,431:.	9	0	1	0
chrX	43795824	43795824	C	T	exonic	MAOB	.	nonsynonymous SNV	MAOB:NM_000898:exon7:c.G683A:p.R228Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0102905191659	9.5e-05	.	9.148e-05	0.0005	0.0003	0	0	2.088e-05	0	0	5.17e-05	8	154602	rs143144504	1.641e-05	1.639e-05	1.634e-05	1.657e-05	0.0003	1.026e-05	8.46e-06	0.0001	8.739e-05	0.0003	5.683e-05	5.162e-05	0	0	0	5.946e-06	4.342e-05	1.849e-05	0.0002	0.0002	0.0001	0.0002	0.0005	0.0001	8.568e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	1.881e-05	0	0.0004	0.08	0.33585	T	0.185	0.28958	T	0.012	0.16265	B	0.014	0.16862	B	0.000045	0.53742	N	0.127637	0.999971	0.53665	D	3.4	0.91674	M	2.89	0.10196	T	-2.91	0.60982	D	0.173	0.18512	-1.0877	0.05925	T	0.033	0.14117	T	10	0.16933647	0.31535	T	0.010291	0.26654	T	0.194	0.47447	.	.	0.615258636671	0.61215	0.6399899603650349	0.63933	0.559000460533	0.52461	0.239816755056	0.02774	T	0.916357	0.98466	D	-0.580541	0.00191	T	-0.717649	0.04910	T	0.293531487486441	0.24737	T	0.828317	0.49240	T	0.3967599	0.60507	0.34384835	0.60091	0.3967599	0.60508	0.34384835	0.60090	-7.025	0.54216	T	.	.	0.089	0.12037	B	.	.	1.818327	0.23107	15.89	0.99733944373921501	0.82975	0.69458	0.34196	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00629976409731053	0.11180	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.29	3.53	0.39533	1.780000	0.38264	0.004000	0.13336	0.599000	0.40250	0.981000	0.35396	0.000000	0.08366	0.937000	0.47636	0.1391:0.7088:0.0:0.1521	7.056	0.24281	611	0.66908	Amine oxidase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1558.12	34	chrX	43795824	.	C	T	1558.12	.	AC=2;AF=0.1;AN=20;DP=360;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.85;SOR=0.767	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1192	9	1	0	0
chrX	43949845	43949845	G	T	exonic	NDP	.	nonsynonymous SNV	NDP:NM_000266:exon3:c.C356A:p.T119N	Exudative vitreoretinopathy 2, X-linked;Norrie disease, X-linked recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	0.848934047868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.821e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.023	0.57104	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	-2.86	0.91421	D	-0.48	0.15379	N	0.763	0.76111	0.669	0.92791	D	0.756	0.91699	D	10	0.7414721	0.74987	D	0.848934	0.98835	D	0.432	0.73807	0.303	0.27164	0.874857478104	0.87363	0.9214386032337198	0.92119	1.51525843767	0.87307	0.725381135941	0.70832	T	0.829721	0.95921	D	0.159	0.70108	D	-0.00938454	0.69725	D	0.928087174892426	0.59132	D	0.90121	0.65680	D	0.92449695	0.93689	0.7455573	0.84960	0.92449695	0.93690	0.7455573	0.84961	-5.736	0.44013	T	0.5982011192753721	0.66514	0.982	0.91490	P	.;.;.	.;.;.	5.763249	0.93440	33	0.99460827355771064	0.65788	0.97286	0.73800	D	ALL	.	.	.	.	.	.	.	.	.	1.0	0.98316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.96	5.96	0.96695	9.564000	0.97283	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.357	0.94409	854	0.34840	Glycoprotein hormone subunit beta|Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal;Glycoprotein hormone subunit beta|Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal;Glycoprotein hormone subunit beta|Cystine knot, C-terminal|Cystine knot, C-terminal|Cystine knot, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	244.43	33	chrX	43949845	.	G	T	244.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.315;DP=416;ExcessHet=0;FS=54.306;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=1.6;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,102,1211:.	9	0	1	0
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K	.	429	1051	29	13	0	55	0.0254984	.	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015214	0.000000	0.014842	0.031621	0.000000	0.011765	0.017699	0.005263	0.3	7136.92	35	chrX	44232585	.	C	T	7136.92	.	AC=6;AF=0.3;AN=20;DP=493;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=29.01;SOR=0.76	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2776,288,0	7	3	0	0
chrX	47147429	47147429	G	A	exonic	RBM10	.	nonsynonymous SNV	RBM10:NM_001204468:exon2:c.G143A:p.R48Q	TARP syndrome, X-linked recessive	0	1521	1	0	0	1	0.000328623	.	.	.	1309528	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	0.000264901	2.732e-05	0	0	0	0	2.512e-05	0	0.0001	6.47e-05	10	154602	rs781795179	3.557e-05	3.551e-05	3.268e-05	4.145e-05	0.0007	2.663e-05	2.338e-05	0.0002	0.0001	7.582e-05	0	0	0	0	0.0007	3.331e-05	6.526e-05	5.552e-05	8.934e-05	8.699e-05	0.0001	5.864e-05	0.0004	4.807e-05	3.683e-05	7.454e-05	5.457e-05	0	0	0	0	0	0	0	0.0002	0.0007	0.0004	.	.	.	0.174	0.30045	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	0.06723988	0.09340	T	.	.	.	.	.	.	.	0.47764994848	0.47394	0.11643227861072186	0.11571	.	.	0.500855743885	0.38948	T	.	.	.	-0.161479	0.26531	T	-0.357239	0.38373	T	.	.	.	0.848715	0.53056	T	.	.	.	.	.	.	.	.	-4.425	0.29894	T	.	.	0.163	0.35972	B	.	.	1.861153	0.23640	16.10	0.9258238159509864	0.22040	0.64560	0.32446	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999839408728	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.856915	0.52390	4.19	4.19	0.48645	1.722000	0.37665	2.867000	0.35241	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	11.505	0.49710	59	0.97452	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2337.12	33	chrX	47147429	.	G	A	2337.12	.	AC=2;AF=0.1;AN=20;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.5;SOR=0.846	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,960	9	1	0	0
chrX	47206074	47206074	C	G	exonic	UBA1	.	nonsynonymous SNV	UBA1:NM_003334:exon15:c.C1702G:p.L568V,UBA1:NM_153280:exon15:c.C1702G:p.L568V	Spinal muscular atrophy, X-linked 2, infantile, X-linked recessive	0	1515	5	2	0	9	0.0029615	.	.	.	348774	not_provided|Infantile-onset_X-linked_spinal_muscular_atrophy|not_specified|VEXAS_syndrome|UBA1-related_disorder	MedGen:C3661900|MONDO:MONDO:0010532,MedGen:C1844934,OMIM:301830,Orphanet:1145|MedGen:CN169374|MONDO:MONDO:0026777,MedGen:C5435753,OMIM:301054,Orphanet:596753|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.387	.	0.0015	0.0121854	0.0107	0.0004	0.0002	0.0760	0.0467	0.0043	0.0199	0.0046	0.0065394	1011	154602	rs150574055	0.0035	0.0035	0.0035	0.0034	0.0632	0.0034	0.0033	0.0608	0.0598	7.61e-05	2.895e-05	0.0068	0.0632	0.0239	0.0007	0.0005	0.0047	0.0032	0.0041	0.0043	0.0037	0.0050	0.0553	0.0038	0.0036	0.0489	0.0465	0.0003	0	0.0002	0.0106	0.0553	0.0253	0	0.0009	0.0040	0.0042	0.001	0.78490	D	0.04	0.50809	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	0.999977	0.53665	D	1.825	0.47900	L	1.02	0.40749	T	-2.58	0.55662	D	0.23	0.25867	-0.9738	0.36387	T	0.086	0.33466	T	10	0.008150339	0.00185	T	.	.	.	0.387	0.70358	.	.	0.60981389998	0.60667	0.9420543238114985	0.94186	2.24202852939	0.96017	0.593292593956	0.51958	T	0.358144	0.72474	T	-0.305049	0.08192	T	-0.171481	0.57307	T	0.0309580145602591	0.02140	T	0.783222	0.41972	T	0.907926	0.92102	0.80922645	0.88851	0.93025076	0.94263	0.8394118	0.90800	-9.952	0.73624	D	.	.	0.124	0.26232	B	.;.	.;.	1.962893	0.24933	16.58	0.99711111975796818	0.81353	0.96297	0.68452	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999998742051088	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.63	2.38	0.28415	2.094000	0.41344	0.014000	0.13486	0.594000	0.32500	0.967000	0.34061	0.001000	0.17328	0.899000	0.43558	0.0:0.7544:0.0:0.2456	8.296	0.31147	471	0.78036	THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001380	0.000000	0.001855	0.000000	0.000000	0.000000	0.004464	0.000000	0.1	3681.12	39	chrX	47206074	.	C	G	3681.12	.	AC=2;AF=0.1;AN=20;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.54;SOR=0.74	GT:AD:DP:GQ:PL	0/0:43,0:43:99:0,102,1530	9	1	0	0
chrX	47585624	47585624	G	A	exonic	TIMP1	.	nonsynonymous SNV	TIMP1:NM_003254:exon5:c.G410A:p.R137Q	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0586425759986	.	.	1.583e-05	0	0	0	0	2.765e-05	0	0	3.84e-05	1	26028	rs777619063	1.76e-05	1.701e-05	1.735e-05	1.815e-05	2.251e-05	1.1e-05	9.08e-06	1.406e-05	1.16e-05	0	0	0	0	0	0	2.251e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.26085	T	0.266	0.22627	T	0.092	0.25296	B	0.004	0.10090	B	0.484442	0.05000	N	1.333290	1	0.08975	N	1.16	0.29674	L	-3.45	0.94469	D	-1.16	0.31981	N	0.033	0.00882	-0.2890	0.75293	T	0.548	0.83422	D	10	0.09915224	0.17975	T	0.058643	0.67390	D	0.258	0.56959	.	.	0.716283694267	0.71379	0.5470285922204727	0.54628	0.334639800498	0.35475	0.24970947206	0.03737	T	0.631595	0.88589	D	-0.011742	0.50020	T	-0.254643	0.49357	T	0.153419673442841	0.17373	T	0.763624	0.39028	T	0.1721012	0.37881	0.120657034	0.29116	0.1721012	0.37881	0.120657034	0.29115	-5.864	0.45127	T	.	.	0.081	0.08465	B	.;.	.;.	1.350294	0.17577	13.25	0.98812031197524197	0.46639	0.03467	0.08621	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999990632467258	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.29	-4.22	0.03541	-0.494000	0.06532	0.128000	0.15008	0.670000	0.69193	0.001000	0.13787	0.000000	0.08366	0.978000	0.57271	0.4854:0.1274:0.2554:0.1318	2.155	0.03578	541	0.72942	Netrin domain;Netrin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.05	1702.43	120	chrX	47585624	.	G	A	1702.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.32;DP=470;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.717;SOR=0.899	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1172	9	0	1	0
chrX	47586579	47586579	C	T	exonic	TIMP1	.	nonsynonymous SNV	TIMP1:NM_003254:exon6:c.C512T:p.T171M	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.330603257133	0.0003	0.000794702	0.0006	0.0002	0	0	0	0.0007	0	0.0014	0.0005433	84	154602	rs199775125	0.0005	0.0005	0.0005	0.0005	0.0031	0.0005	0.0005	0.0019	0.0015	0.0001	0.0001	0.0006	3.311e-05	4.948e-05	0.0031	0.0005	0.0005	0.0015	0.0005	0.0005	0.0004	0.0005	0.0008	0.0004	0.0003	0.0006	0.0005	3.223e-05	0	0.0003	0.0004	0	0	0.0091	0.0008	0.0007	0.0004	0.174	0.22486	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000019	0.62929	D	0.000000	1	0.81001	D	2.865	0.83145	M	-3.41	0.94306	D	-3.59	0.74661	D	0.34	0.38129	0.884	0.95458	D	0.875	0.95861	D	10	0.098468155	0.17805	T	0.330603	0.91740	D	0.778	0.92583	.	.	0.957758064135	0.95731	0.7855805453621594	0.78509	0.92833888011	0.71719	0.590929746628	0.51625	T	0.698376	0.91293	D	0.0666663	0.60441	T	0.292906	0.87846	D	0.162283289508909	0.18038	T	0.855914	0.55137	D	0.28810596	0.51816	0.38470557	0.63405	0.28810596	0.51816	0.38470557	0.63405	-7.563	0.58052	D	.	.	0.240	0.48407	B	.;.	.;.	3.737428	0.53497	23.4	0.99923947470345009	0.98917	0.69739	0.34308	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999986710587	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	1.811000	0.38580	5.888000	0.50725	0.599000	0.40250	0.930000	0.32276	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	13.223	0.59323	541	0.72942	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004129	0.000000	0.007421	0.003953	0.000000	0.000000	0.000000	0.005263	0.1	2259.12	37	chrX	47586579	.	C	T	2259.12	.	AC=2;AF=0.1;AN=20;DP=391;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.96;SOR=0.744	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1046	9	1	0	0
chrX	49039321	49039321	G	A	exonic	TFE3	.	nonsynonymous SNV	TFE3:NM_001282142:exon3:c.C5T:p.S2L,TFE3:NM_006521:exon3:c.C320T:p.S107L	Renal cell carcinoma, papillary, 1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00633501382377	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1264471344	3.693e-06	3.652e-06	4.101e-06	2.843e-06	3.338e-05	8.6e-07	5.8e-07	9.6e-07	2.7e-07	0	0	0	3.338e-05	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.213	0.26467	T	0.081	0.24602	B	0.006	0.12133	B	0.033198	0.24930	N	0.326142	0.592321	0.32467	D	1.7	0.43825	L	2.36	0.16089	T	-1.73	0.41046	N	0.299	0.33796	-1.0749	0.08369	T	0.033	0.14290	T	10	0.24231541	0.41425	T	0.006335	0.16639	T	0.049	0.13647	0.27	0.21893	0.138757226776	0.13463	0.5193158588637525	0.51854	0.814098478581	0.66863	0.759120702744	0.75799	T	0.589346	0.86673	D	-0.247526	0.14404	T	-0.59333	0.13380	T	0.7932049036026	0.45900	D	0.885811	0.61165	D	0.2122582	0.43572	0.26008326	0.51767	0.2122582	0.43572	0.26008326	0.51766	-3.557	0.17239	T	.	.	0.142	0.31177	B	.	.	4.345984	0.66707	25.0	0.99770152349359653	0.85834	0.95598	0.65363	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999971519615	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.36	4.5	0.54382	3.035000	0.49449	11.610000	0.93539	0.676000	0.76740	0.982000	0.35529	1.000000	0.68203	1.000000	0.97212	0.0948:0.0:0.9052:0.0	10.422	0.43544	36	0.98055	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	210.33	44	chrX	49039321	.	G	A	210.33	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.35;DP=461;ExcessHet=0.7463;FS=280.432;InbreedingCoeff=-0.3003;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=-0.037;SOR=8.409	GT:AD:DP:GQ:PL	0/1:39,21:60:83:83,0,572	4	0	3	3
chrX	49177028	49177028	G	A	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon8:c.C926T:p.P309L,PRICKLE3:NM_006150:exon8:c.C1130T:p.P377L	.	425	1094	2	1	0	4	0.00182482	.	.	.	2672483	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0682883945711	0.0008	.	0.0004	0	0.0001	0	0	0.0007	0.0023	0	0.0003558	55	154602	rs146977278	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	3.795e-05	0.0004	0.0007	0	2.491e-05	0.0005	0.0004	0.0005	0.0001	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	3.221e-05	0	0.0004	0.0004	0	0	0	0.0004	0.0006	0	.	.	.	0.014	0.62352	D	0.179	0.28995	B	0.024	0.20255	B	0.826197	0.09141	N	0.893166	0.999771	0.20412	N	0.975	0.24501	L	-0.41	0.69413	T	.	.	.	0.1	0.08227	-0.9910	0.32347	T	0.152	0.48170	T	10	0.039325178	0.02414	T	0.068288	0.70409	D	.	.	.	.	0.227934060464	0.22382	0.2038643009975765	0.20303	.	.	0.466102302074	0.34146	T	0.048143	0.27930	T	-0.506863	0.00523	T	-0.606165	0.12298	T	0.020521925720414	0.00752	T	0.785921	0.42389	T	0.04416957	0.07014	0.06827266	0.14237	0.04416957	0.07013	0.06827266	0.14236	-6.389	0.49424	T	.	.	0.079	0.07130	B	.;.	.;.	1.510766	0.19408	14.25	0.90563371248063629	0.19818	0.06321	0.12318	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999887207933	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.39	2.59	0.30091	0.807000	0.26800	5.012000	0.46677	-0.121000	0.13915	0.001000	0.13787	0.994000	0.32194	0.001000	0.02609	0.0:0.1923:0.6043:0.2033	6.734	0.22585	33	0.98110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000696	0.000000	0.001859	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	901.43	43	chrX	49177028	.	G	A	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.387;DP=404;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.86;SOR=0.407	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,100,968	9	0	1	0
chrX	49178082	49178082	C	T	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon7:c.G662A:p.R221H,PRICKLE3:NM_006150:exon7:c.G866A:p.R289H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.601	.	.	0.00317881	0.0010	0	0	0	0	2.198e-05	0	0.0145	0.001229	190	154602	rs782568147	0.0006	0.0006	0.0004	0.0010	0.0115	0.0005	0.0005	0.0107	0.0104	3.898e-05	0	0	0	0	0.0003	1.334e-05	0.0008	0.0115	0.0003	0.0003	0.0002	0.0005	0.0107	0.0002	0.0002	0.0077	0.0067	3.199e-05	0	0	0	0	0	0	0	0	0.0107	.	.	.	0.001	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.029851	0.25394	N	0.195727	1	0.81001	D	3.04	0.86592	M	-2.27	0.87433	D	.	.	.	0.247	0.27910	0.623	0.92193	D	0.777	0.92415	D	10	0.012093872	0.00261	T	.	.	.	.	.	0.477	0.55502	0.546349033029	0.54290	0.4699079486218128	0.46909	.	.	0.754472136497	0.75107	T	0.645958	0.89198	D	-0.321791	0.06752	T	-0.223976	0.52353	T	0.298052274499515	0.24923	T	0.944206	0.78893	D	0.3708152	0.58646	0.42456776	0.66292	0.3708152	0.58646	0.42456776	0.66292	-9.083	0.68229	D	.	.	0.274	0.50754	B	.;.;.	.;.;.	4.314309	0.65983	24.9	0.99883031657004795	0.95892	0.93812	0.59262	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999999999478884	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.89	4.03	0.46115	6.018000	0.70464	3.213000	0.36811	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.8995:0.0:0.1005	10.342	0.43069	33	0.98110	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|LIM2 prickle	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1560.43	129	chrX	49178082	.	C	T	1560.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.792;DP=448;ExcessHet=0;FS=1.439;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.134;SOR=0.888	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1124	9	0	1	0
chrX	49248482	49248482	G	A	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon11:c.G1288A:p.A430T	Ritscher-Schinzel syndrome 2, X-linked recessive	420	1072	18	12	0	42	0.0192132	.	.	.	101446	Ritscher-Schinzel_syndrome_2|not_specified|not_provided	MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0053	0.00582781	0.0082	0.0008	0.0022	0	0.0221	0.0117	0.0114	0.0042	0.007225	1117	154602	rs144632022	0.0078	0.0078	0.0079	0.0077	0.0247	0.0077	0.0076	0.0209	0.0194	0.0011	0.0036	0.0105	0	0.0186	0.0247	0.0081	0.0080	0.0040	0.0060	0.0061	0.0062	0.0054	0.0082	0.0056	0.0054	0.0076	0.0073	0.0012	0	0.0044	0.0083	0.0003	0.0179	0.0092	0.0082	0.0059	0.0019	0.152	0.24468	T	0.537	0.09863	T	0.992	0.64738	D	0.666	0.52990	P	0.004755	0.33426	N	0.310015	0.553096	0.31318	N	2.25	0.63811	M	.	.	.	-0.65	0.18877	N	0.1	0.08227	-0.7477	0.58055	T	0.129	0.43767	T	9	0.008079827	0.00183	T	.	.	.	0.181	0.45247	.	.	0.704060556882	0.70149	0.04173131593554087	0.04118	0.440805406712	0.44083	0.524738907814	0.42294	T	0.205176	0.56416	T	-0.355553	0.04388	T	-0.276539	0.47159	T	0.0165678910958323	0.00418	T	0.925307	0.72522	D	0.14986268	0.34145	0.18517926	0.41615	0.14986268	0.34144	0.18517926	0.41614	-5.044	0.37314	T	0.2009483441160326	0.26683	0.094	0.14293	B	.	.	3.193679	0.43402	21.7	0.99910940227758416	0.98022	0.94361	0.60920	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99996077201853	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	4.632000	0.61009	7.481000	0.59259	0.672000	0.70159	0.991000	0.37257	1.000000	0.68203	0.836000	0.39433	0.0:0.1609:0.8391:0.0	12.854	0.57257	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.020862	0.013605	0.016760	0.015810	0.071429	0.000000	0.053097	0.010526	0.15	1628.43	37	chrX	49248482	.	G	A	1628.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.63;DP=423;ExcessHet=0;FS=1.409;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.611;SOR=0.871	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,105,1141	8	1	1	0
chrX	49305467	49305467	C	T	exonic	GAGE10	.	nonsynonymous SNV	GAGE10:NM_001098413:exon3:c.C145T:p.R49C	.	.	.	.	.	.	.	.	.	.	.	3439635	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00546082088018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs5906771	1.954e-05	5.373e-05	2.626e-05	5.696e-06	0.0001	1.256e-05	1.066e-05	2.66e-05	1.437e-05	3.938e-05	5.925e-05	0.0001	0.0001	0	0	1.077e-05	6.599e-05	1.883e-05	1.815e-05	4.36e-05	2.578e-05	0	6.856e-05	3.01e-06	1.13e-06	1.135e-05	4.24e-06	6.856e-05	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.043	0.49942	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.86	0.10482	T	-0.58	0.17417	N	0.066	0.03841	-0.9911	0.32321	T	0.015	0.06138	T	9	0.060540706	0.07451	T	0.005461	0.14045	T	0.012	0.01476	0.262	0.20631	0.0884992946249	0.08302	0.013619594397315221	0.01319	0.00741002353109	0.00654	0.38353741169	0.22757	T	.	.	.	-0.492277	0.00632	T	-0.944898	0.00279	T	0.0351085627920025	0.02827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04640	B	.	.	0.647095	0.10153	6.898	0.83999236235221719	0.15039	0.00112	0.00708	N	AEFI	.	.	.	.	.	.	.	.	.	0.672134013985369	0.22386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.2	-2.41	0.06184	-0.497000	0.06509	-9.164000	0.00858	-2.061000	0.00413	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.227:0.4184:0.1674:0.1872	1.184	0.01737	49	0.97662	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	44.43	62	chrX	49305467	.	C	T	44.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.451;DP=359;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.68;MQRankSum=0.332;QD=2.47;ReadPosRankSum=0.178;SOR=0.551	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,535	9	0	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.05	95.71	12	chrX	49332776	.	A	T	95.71	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=94;ExcessHet=0;FS=0;InbreedingCoeff=0.1192;MLEAC=1;MLEAF=0.05;MQ=33.73;MQRankSum=0.967;QD=15.95;ReadPosRankSum=1.38;SOR=0.707	GT:AD:DP:GQ:PL	0/0:10,0:10:30:0,30,392	9	0	1	0
chrX	49591237	49591237	A	T	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.A122T:p.E41V,GAGE2A:NM_001127212:exon3:c.A122T:p.E41V,GAGE2C:NM_001472:exon3:c.A122T:p.E41V	.	721	774	27	0	0	27	0.0171429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	.	0.0087	0.0014	0.0006	0	0.0233	0.0120	0.0220	0.0122	0.0006531	17	26028	rs200636160	0.0069	0.0088	0.0094	1.011e-05	0.0080	0.0067	0.0066	0.0078	0.0077	0.0005	0.0006	0.0009	0	0.0121	0.0067	0.0080	0.0058	0.0048	0.0046	0.0057	0.0060	0	0.0084	0.0042	0.0041	0.0072	0.0069	0.0004	0.0265	0.0006	0.0005	0	0.0095	0.0055	0.0079	0.0034	0.0084	0.05	0.39575	D	0.006	0.70582	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	1	0.08975	N	2.74	0.80084	M	2.81	0.10975	T	-3.9	0.72932	D	0.059	0.03069	-1.0666	0.10177	T	0.065	0.26878	T	9	0.0044246614	0.00090	T	.	.	.	0.038	0.09825	.	.	.	.	0.014046565320850092	0.01361	.	.	.	.	.	0.035837	0.23874	T	-0.709744	0.00032	T	-0.786725	0.02256	T	0.0613656344429564	0.07381	T	0.424758	0.11367	T	0.22350249	0.44973	0.12378093	0.29843	0.22350249	0.44973	0.12378093	0.29842	-4.815	0.34766	T	.	.	0.230	0.46285	B	.	.	2.309269	0.29559	18.16	0.98125996659211223	0.38473	0.02861	0.07626	N	AEFI	.	.	.	.	.	.	.	.	.	1.69540920329682E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	-0.325	0.12072	0.763000	0.26183	-1.950000	0.04446	-0.583000	0.04693	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5866:0.4134:0.0:0.0	3.627	0.07658	361	0.84870	GAGE|GAGE	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.006565	0.000000	0.002475	0.000000	0.000000	0.016667	0.008000	0.024194	0.05556	912.32	67	chrX	49591237	.	A	T	912.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.58;DP=766;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=37.26;MQRankSum=-3.888;QD=2.1;ReadPosRankSum=0.157;SOR=0.716	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	8	0	1	1
chrX	49591239	49591239	G	C	exonic	GAGE2A;GAGE2B;GAGE2C	.	nonsynonymous SNV	GAGE2B:NM_001098411:exon3:c.G124C:p.E42Q,GAGE2A:NM_001127212:exon3:c.G124C:p.E42Q,GAGE2C:NM_001472:exon3:c.G124C:p.E42Q	.	719	796	7	0	0	7	0.00437774	.	.	.	2427987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.026	0.157473108887	.	.	0.0002	0	0.0001	0	0	0.0001	0	0.0014	.	.	.	rs782567731	0.0001	0.0001	0.0002	0	0.0019	9.285e-05	8.546e-05	0.0010	0.0009	0	0	0	0	0	0.0019	4.724e-05	0.0001	0.0012	7.776e-05	9.27e-05	0.0001	0	0.0006	3.625e-05	2.571e-05	4.776e-05	3.078e-05	0	0	0	0	0	0	0.0056	0.0001	0	0.0006	0.242	0.17584	T	0.307	0.19908	T	0.997	0.70673	D	0.995	0.83170	D	.	.	.	.	1	0.08975	N	1.275	0.32135	L	2.76	0.11515	T	-0.98	0.25986	N	0.035	0.01004	-1.0219	0.23096	T	0.035	0.14943	T	9	0.03190556	0.01332	T	0.157473	0.83805	D	0.026	0.05648	0.301	0.26843	0.0401082797425	0.02173	0.008468814377004048	0.00810	.	.	.	.	.	0.009057	0.08271	T	-0.823822	0.00005	T	-1.00658	0.00127	T	0.112882897257805	0.13720	T	0.466753	0.13720	T	0.08280276	0.19091	0.048656292	0.07272	0.08280276	0.19091	0.048656292	0.07272	-4.182	0.26490	T	.	.	0.158	0.34884	B	.	.	0.286244	0.06629	3.124	0.98039619249071663	0.37782	0.00125	0.00780	N	AEFI	.	.	.	.	.	.	.	.	.	1.65398576066174E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.06	0.038	0.13516	-2.646000	0.00933	-20.000000	0.00162	-0.590000	0.04653	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4088:0.5912:0.0	4.609	0.11784	361	0.84870	GAGE|GAGE	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	1198.32	67	chrX	49591239	.	G	C	1198.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.909;DP=506;ExcessHet=0;FS=0.564;MLEAC=1;MLEAF=0.056;MQ=37.36;MQRankSum=-1.044;QD=6.08;ReadPosRankSum=0.701;SOR=0.626	GT:AD:DP:GQ:PL	0/1:133,64:197:99:1209,0,3354	8	0	1	1
chrX	50351646	50351646	G	A	exonic	CCNB3	.	nonsynonymous SNV	CCNB3:NM_033670:exon8:c.G819A:p.M273I,CCNB3:NM_033031:exon13:c.G4131A:p.M1377I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	0.00238411	0.0009	0	0	0	0	0	0	0.0080	0.0009185	142	154602	rs782511818	0.0004	0.0005	0.0003	0.0008	0.0081	0.0004	0.0004	0.0075	0.0072	0	2.841e-05	0	3.311e-05	0	0	9.501e-06	0.0010	0.0081	0.0002	0.0002	0.0001	0.0002	0.0068	0.0001	8.57e-05	0.0044	0.0036	0	0	0	0	0	0	0	0	0	0.0068	0.06	0.37326	T	0.497	0.14200	T	0.011	0.15914	B	0.024	0.20255	B	0.833268	0.09089	N	0.925137	1	0.08975	N	0.425	0.12573	N	2.26	0.28604	T	-1.37	0.40850	N	0.042	0.07262	-0.9946	0.31405	T	0.048	0.20632	T	9	0.003655225	0.00067	T	.	.	.	0.071	0.20720	0.556	0.67409	0.128874641272	0.12493	0.26894415798703614	0.26807	0.172477267296	0.19426	0.250379860401	0.03808	T	0.034572	0.23374	T	-0.837586	0.00003	T	-0.97022	0.00205	T	0.0212427887055575	0.00826	T	0.474753	0.14697	T	0.14114736	0.32535	0.16856702	0.38827	0.14114736	0.32534	0.16856702	0.38826	-2.359	0.05815	T	.	.	0.226	0.47697	B	.;.;.;.	.;.;.;.	-0.198960	0.03094	0.489	0.56639679177426872	0.05596	0.05133	0.10941	N	AEFBI	.	.	.	.	.	.	.	.	.	6.03337684721714E-4	0.07437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	-2.08	0.06852	1.008000	0.29475	0.037000	0.13814	-0.135000	0.12811	0.012000	0.18695	0.000000	0.08366	0.015000	0.10482	0.496:0.0:0.504:0.0	11.039	0.47033	410	0.82135	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	2908.12	38	chrX	50351646	.	G	A	2908.12	.	AC=2;AF=0.1;AN=20;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.51;SOR=1	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1298	9	1	0	0
chrX	50910985	50910985	C	T	exonic	BMP15	.	nonsynonymous SNV	BMP15:NM_005448:exon1:c.C202T:p.R68W	Ovarian dysgenesis 2;Premature ovarian failure 4	2	1519	0	1	0	2	0.000657895	.	.	.	26513	not_provided|BMP15-related_disorder|Ovarian_dysgenesis_2|Premature_ovarian_failure_4	MedGen:C3661900|.|MONDO:MONDO:0010349,MedGen:C1845294,OMIM:300510,Orphanet:243|MONDO:MONDO:0800317,MedGen:C1845295	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.478	0.10899076348	0.0012	0.000529801	0.0010	0.0002	0.0011	0	0	0.0015	0	0.0005	0.0006598	102	154602	rs104894763	0.0012	0.0011	0.0012	0.0011	0.0014	0.0011	0.0011	0.0013	0.0013	0.0003	0.0004	0	3.442e-05	0	0.0002	0.0014	0.0011	0.0002	0.0006	0.0006	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0008	0.0001	0	0.0006	0	0	0	0	0.0011	0.0013	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.877	0.62241	P	0.145698	0.18137	N	0.596339	4.31394e-06	0.08975	A	2.19	0.61577	M	-1.7	0.83072	D	-4.55	0.78553	D	0.152	0.15609	0.168	0.85358	D	0.604	0.85919	D	9	0.3806206	0.54166	T	0.108991	0.78576	D	0.478	0.76946	.	.	0.971775905515	0.97146	0.670924096729619	0.67030	0.163686205249	0.18462	0.222533464432	0.01461	T	0.775334	0.94020	D	-0.194452	0.21606	T	-0.0551444	0.66669	D	0.0815904214978218	0.10190	T	0.881912	0.60169	D	0.19270205	0.40950	0.21276787	0.45760	0.19270205	0.40950	0.21276787	0.45759	-7.927	0.60572	D	0.6123033005061981	0.67998	0.138	0.30022	B	.	.	2.367815	0.30382	18.42	0.99811462840855392	0.89531	0.89350	0.49762	D	AEFBI	.	.	.	.	.	.	.	.	.	0.012641970244775	0.12355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	1.82	0.24209	2.048000	0.40903	0.248000	0.16392	0.599000	0.40250	0.987000	0.36337	0.006000	0.19429	0.028000	0.12845	0.4708:0.4425:0.0:0.0867	6.515	0.21439	611	0.66908	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002082	0.006944	0.000000	0.000000	0.000000	0.000000	0.004566	0.005263	0.1	2095.12	55	chrX	50910985	.	C	T	2095.12	.	AC=2;AF=0.1;AN=20;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.36;SOR=0.844	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1107	9	1	0	0
chrX	52648266	52648266	G	A	exonic	SSX7	.	nonsynonymous SNV	SSX7:NM_173358:exon6:c.C461T:p.T154I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000817274776393	.	.	2.36e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs782020031	7.304e-06	7.284e-06	9.532e-06	2.771e-06	0.0001	3.14e-06	2.27e-06	6.139e-05	4.292e-05	0	0	0	0	0	0	0	2.176e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.383	0.11085	T	0.11	0.37310	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	3.14	0.07920	T	-1.71	0.40660	N	0.025	0.00485	-0.9556	0.39988	T	0.010	0.03811	T	8	0.031101704	0.01242	T	8.17E-4	0.00670	T	0.007	0.00512	0.147	0.05039	0.0297737177859	0.01360	0.014652215416546387	0.01422	0.0118324598183	0.01115	.	.	.	0.005813	0.05258	T	-0.759279	0.00015	T	-1.03628	0.00082	T	0.0150498860078606	0.00325	T	0.450755	0.12737	T	0.049002983	0.08633	0.10290494	0.24676	0.049002983	0.08633	0.10290494	0.24675	-4.29	0.28037	T	.	.	0.104	0.18910	B	.	.	-1.607515	0.00236	0.004	0.3534925184982502	0.02213	0.00073	0.00509	N	AEFDBIJ	.	.	.	.	.	.	.	.	.	0.0533420267329011	0.14936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	-1.12	0.09306	-2.287000	0.01232	-9.962000	0.00755	-1.686000	0.00778	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	484	0.77165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1743.12	39	chrX	52648266	.	G	A	1743.12	.	AC=2;AF=0.1;AN=20;DP=378;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.13;SOR=1.101	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1104	9	1	0	0
chrX	54198365	54198365	A	G	exonic	WNK3	.	nonsynonymous SNV	WNK3:NM_001002838:exon23:c.T5191C:p.S1731P,WNK3:NM_020922:exon24:c.T5362C:p.S1788P	.	.	.	.	.	.	.	.	.	.	.	3352884	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00131764900483	.	.	4.038e-05	0	0	0	0	7.259e-05	0	0	2.59e-05	4	154602	rs782784534	3.196e-05	3.187e-05	2.996e-05	3.604e-05	0.0022	2.32e-05	2.053e-05	0.0011	0.0009	0.0002	0.0001	0	0	0	0.0022	1.904e-05	2.175e-05	1.876e-05	8.948e-05	8.706e-05	7.71e-05	0.0001	0.0001	4.814e-05	3.688e-05	6.154e-05	4.302e-05	3.25e-05	0	9.54e-05	0	0	0	0	0.0001	0.0007	0	1.0	0.00964	T	0.186	0.28860	T	0.0	0.02946	B	0.001	0.04355	B	0.318723	0.14308	N	0.638947	0.99141	0.24037	N	-0.455	0.02793	N	1.79	0.25509	T	1.24	0.01024	N	0.09	0.18376	-1.0063	0.28065	T	0.022	0.09147	T	10	0.028395921	0.00972	T	0.001318	0.01860	T	0.070	0.20419	0.037	0.00022	0.043077524339	0.03247	0.17727445779099443	0.17646	0.266795107304	0.29218	0.310416817665	0.11970	T	0.051767	0.28972	T	-0.664821	0.00059	T	-0.967044	0.00213	T	0.430793076753616	0.30090	T	0.49565	0.15376	T	0.06103195	0.12592	0.10125964	0.24237	0.06103195	0.12592	0.10125964	0.24236	-3.64	0.19052	T	.	.	0.057	0.00553	B	.;.;.;.	.;.;.;.	0.677317	0.10460	7.176	0.88140520019254942	0.17747	0.11983	0.16986	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00460755504829235	0.10636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	-0.464	0.11553	-0.033000	0.12196	0.563000	0.19530	-0.137000	0.12594	0.978000	0.35038	0.937000	0.28687	0.993000	0.69303	0.2922:0.1357:0.2926:0.2796	0.332	0.00298	6	0.99319	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1	1523.12	34	chrX	54198365	.	A	G	1523.12	.	AC=2;AF=0.1;AN=20;DP=352;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.73;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1095	9	1	0	0
chrX	54923239	54923239	G	A	exonic	TRO	.	nonsynonymous SNV	TRO:NM_001039705:exon3:c.G707A:p.G236D,TRO:NM_016157:exon3:c.G707A:p.G236D,TRO:NM_177556:exon3:c.G707A:p.G236D	.	432	1086	3	1	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0186922391521	9.7e-05	0.0010596	0.0002	0	0	0	0	4.323e-05	0	0.0015	0.0001746	27	154602	rs374465129	6.557e-05	6.556e-05	6.125e-05	7.428e-05	0.0011	5.314e-05	4.883e-05	0.0008	0.0008	0	0	0	0	0	0.0010	2.375e-06	0.0002	0.0011	3.593e-05	4.358e-05	2.573e-05	5.953e-05	0.0015	1.139e-05	6.66e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0015	0.006	0.91255	D	0.053	0.92824	T	0.987	0.61912	D	0.672	0.53180	P	.	.	.	.	0.999987	0.26361	N	1.905	0.50856	L	0.7	0.61677	T	-5.15	0.83357	D	0.069	0.32591	-1.0035	0.28903	T	0.141	0.46110	T	9	0.010899931	0.00277	T	0.018692	0.40835	T	0.119	0.33137	.	.	0.363158594168	0.35926	0.06763277267137109	0.06701	0.198132890157	0.22192	0.432678818703	0.29574	T	0.111761	0.51817	T	-0.433075	0.01421	T	-0.424938	0.30510	T	0.241990615110049	0.22511	T	0.737626	0.39577	T	0.2581469	0.48862	0.27122822	0.53021	0.2581469	0.48862	0.27122822	0.53020	-3.79	0.20655	T	.	.	0.340	0.55896	B	.;.;.;.;.	.;.;.;.;.	1.928570	0.24491	16.42	0.98992888954538183	0.49983	0.44868	0.27413	N	AEFBI	.	.	.	.	.	.	.	.	.	0.879168098366055	0.25581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	2.14	0.26518	3.357000	0.51997	2.029000	0.30245	-0.262000	0.06890	1.000000	0.71638	0.997000	0.33255	0.627000	0.32078	0.0:0.0:0.7128:0.2872	6.519	0.21463	203	0.92088	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.005263	0.05	2044.43	146	chrX	54923239	.	G	A	2044.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.19;DP=467;ExcessHet=0;FS=8.722;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=1.66;SOR=0.452	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chrX	54930743	54930743	G	A	exonic	TRO	.	nonsynonymous SNV	TRO:NM_001271183:exon10:c.G2612A:p.G871D,TRO:NM_001271184:exon11:c.G2828A:p.G943D,TRO:NM_001039705:exon12:c.G4019A:p.G1340D	.	431	1088	2	1	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0185322580024	0.0049	0.0013245	0.0040	0.0011	0.0016	0	0.0077	0.0055	0.0064	0.0019	0.0039068	604	154602	rs45438793	0.0060	0.0060	0.0062	0.0058	0.0071	0.0059	0.0059	0.0069	0.0069	0.0009	0.0014	0.0002	0	0.0063	0.0007	0.0071	0.0048	0.0020	0.0039	0.0039	0.0040	0.0036	0.0064	0.0036	0.0034	0.0059	0.0056	0.0009	0	0.0021	0	0	0.0053	0	0.0064	0.0032	0.0018	0.003	0.72154	D	0.064	0.45530	T	0.714	0.42167	P	0.287	0.40572	B	.	.	.	.	0.999999	0.27885	N	1.675	0.43121	L	3.53	0.04852	T	-1.18	0.30140	N	0.13	0.18784	-0.9891	0.32828	T	0.011	0.04134	T	9	0.00421834	0.00084	T	0.018532	0.40624	T	0.047	0.12962	.	.	0.49676076625	0.49313	0.5887888548704555	0.58808	0.50681636426	0.48873	0.449943006039	0.31935	T	0.103384	0.41200	T	-0.649239	0.00073	T	-0.701777	0.05729	T	0.0278239442332322	0.01662	T	0.59564	0.35555	T	0.31000856	0.53787	0.29474315	0.55505	0.31000856	0.53787	0.29474315	0.55504	-7.292	0.56138	T	.	.	0.116	0.28693	B	.;.;.;.	.;.;.;.	1.391865	0.18044	13.52	0.90964002902904995	0.20213	0.04367	0.09940	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00314597987317509	0.09954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.76	-0.913	0.09966	1.206000	0.31926	2.181000	0.31130	-0.161000	0.11593	0.007000	0.17678	1.000000	0.68203	0.997000	0.79791	0.1228:0.5492:0.328:0.0	6.558	0.21668	203	0.92088	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.003546	0.006803	0.001855	0.000000	0.000000	0.000000	0.000000	0.015789	0.1	4552.12	35	chrX	54930743	.	G	A	4552.12	.	AC=2;AF=0.1;AN=20;DP=483;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.55;SOR=1.119	GT:AD:DP:GQ:PL	1/1:0,149:149:99:4575,447,0	9	1	0	0
chrX	55090045	55090045	T	A	exonic	PAGE2	.	nonsynonymous SNV	PAGE2:NM_207339:exon2:c.T25A:p.S9T	.	440	1057	19	6	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0048	0.00344371	0.0043	0.0002	0.0030	0	0.0062	0.0060	0.0095	0.0023	0.0044566	689	154602	rs150926284	0.0049	0.0050	0.0049	0.0050	0.0318	0.0048	0.0048	0.0273	0.0256	0.0013	0.0070	0.0217	0	0.0058	0.0318	0.0046	0.0066	0.0028	0.0049	0.0050	0.0048	0.0052	0.0119	0.0046	0.0045	0.0102	0.0095	0.0008	0	0.0119	0.0177	0	0.0054	0.0187	0.0057	0.0066	0.0011	0.049	0.46513	D	0.055	0.50809	T	0.771	0.43934	P	0.412	0.44859	B	.	.	.	.	1	0.08975	N	2.36	0.67893	M	2.91	0.10008	T	-1.51	0.48687	N	0.129	0.12341	-1.0673	0.10017	T	0.024	0.10329	T	9	0.0045550764	0.00094	T	.	.	.	0.060	0.17295	.	.	0.328752806141	0.32485	0.018657148972269076	0.01819	0.136816043676	0.15430	.	.	.	0.028316	0.20539	T	-0.809942	0.00006	T	-0.932476	0.00322	T	0.00985324527288945	0.00130	T	0.657134	0.28166	T	0.09552606	0.22482	0.12426142	0.29954	0.09552606	0.22482	0.12426142	0.29953	-4.322	0.28484	T	.	.	0.127	0.27039	B	.;.;.	.;.;.	-0.125858	0.03490	0.654	0.88367974457232812	0.17922	0.00387	0.01950	N	AEFI	.	.	.	.	.	.	.	.	.	4.44181529862095E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.921	-1.84	0.07387	-0.577000	0.05940	-5.748000	0.01609	0.257000	0.18371	0.000000	0.06391	0.000000	0.08366	0.249000	0.23237	0.3306:0.2742:0.0:0.3952	1.402	0.02137	284	0.88763	GAGE|GAGE;GAGE|GAGE;GAGE|GAGE	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.037625	0.000000	0.056180	0.047337	0.000000	0.024096	0.011561	0.018293	0.05	822.43	42	chrX	55090045	.	T	A	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.427;DP=423;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=1;QD=9.79;ReadPosRankSum=-0.971;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:37,0:37:99:.:.:0,99,1090:.	9	0	1	0
chrX	55091459	55091459	T	C	splicing	PAGE2	NM_207339:exon4:c.319+2T>C	.	.	.	.	.	.	.	.	.	.	0.9220	0.494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186599605	2.739e-06	2.733e-06	4.086e-06	0	3.567e-06	7.3e-07	2e-07	9.5e-07	2.6e-07	0	0	0	0	0	0	3.567e-06	0	0	9.497e-06	8.788e-06	1.301e-05	0	1.943e-05	0	0	.	.	0	0	0	0	0	0	0	1.943e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999827	0.20203	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.465382	0.00909	T	-0.906266	0.00460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	2.147820	0.27353	17.43	0.51903810393775407	0.04648	0.07289	0.13311	N	AEFGI	.	.	.	.	.	.	.	.	.	1.11925870257151E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	0.104644	0.22880	1.13	1.13	0.19758	1.214000	0.32023	2.449000	0.32805	0.500000	0.22704	0.923000	0.32050	0.093000	0.22564	0.062000	0.16114	0.0:0.0:0.0:1.0	4.169	0.09783	284	0.88763	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1615.12	33	chrX	55091459	.	T	C	1615.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.99;DP=364;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=43.46;MQRankSum=2.26;QD=27.37;ReadPosRankSum=1.45;SOR=1.238	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,999	9	1	0	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1034.14	541	chrX	55146088	.	G	T	1034.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.883;DP=4997;ExcessHet=0.2348;FS=0.83;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.338;SOR=0.881	GT:AD:DP:GQ:PL	0/0:567,0:567:92:0,92,14164	8	0	2	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	1/1:62,552:614:53:15409,53,0	0	2	8	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3333	11747.7	759	chrX	55146139	.	G	A	11747.7	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.35;DP=6406;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.78;SOR=0.663	GT:AD:DP:GQ:PL	0/1:390,281:671:99:5839,0,10279	3	0	6	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3889	17194.3	727	chrX	55146173	.	G	A	17194.3	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-0.183;DP=6264;ExcessHet=7.0302;FS=0.657;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=-1.269;SOR=0.764	GT:AD:DP:GQ:PL	0/1:383,265:648:99:5714,0,10777	2	0	7	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:351,212:563:99:4774,0,10478	2	0	8	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:78,426:504:99:14924,0,653	0	1	9	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	236.43	454	chrX	55146214	.	G	A	236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.119;DP=4391;ExcessHet=0;FS=0.905;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=-1.383;SOR=0.687	GT:AD:DP:GQ:PL	0/0:448,0:448:99:0,120,1800	9	0	1	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	8214.98	454	chrX	55146226	.	A	G	8214.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.09;DP=4470;ExcessHet=4.5998;FS=0.676;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=0.786;SOR=0.622	GT:AD:DP:GQ:PL	0/1:390,57:447:99:311,0,13698	4	0	6	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	6121.17	451	chrX	55146242	.	C	T	6121.17	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.896;DP=4085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.81;ReadPosRankSum=0.288;SOR=0.605	GT:AD:DP:GQ:PL	0/0:362,38:400:22:0,22,13505	5	0	5	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.35	12199.0	433	chrX	55146247	.	G	C	12199.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.305;DP=3949;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.28;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,127:379:99:0|1:55146247_G_C:4315,0,9962:55146247	3	0	7	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12021.9	417	chrX	55146252	.	A	AT	12021.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.697;DP=3806;ExcessHet=7.0302;FS=0.667;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.372;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,116:357:99:0|1:55146247_G_C:4049,0,9675:55146247	3	0	7	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:175,166:341:99:5070,0,6386	0	1	9	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	11620.9	409	chrX	55146255	.	TG	T	11620.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.137;DP=3477;ExcessHet=7.0302;FS=0.698;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.267;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:230,109:339:99:0|1:55146247_G_C:3885,0,9330:55146247	3	0	7	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:46,191:237:99:6956,0,1128	0	1	9	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	10330.0	270	chrX	55146283	.	C	T	10330.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.191;DP=2533;ExcessHet=7.0302;FS=1.237;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-0.86;SOR=0.773	GT:AD:DP:GQ:PL	0/1:147,47:194:99:800,0,4431	3	0	7	0
chrX	57286949	57286949	C	T	exonic	FAAH2	.	nonsynonymous SNV	FAAH2:NM_001353840:exon1:c.C124T:p.R42W,FAAH2:NM_001353841:exon1:c.C124T:p.R42W,FAAH2:NM_174912:exon1:c.C124T:p.R42W	.	428	1080	9	5	0	19	0.0087196	.	.	.	706283	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0078	0.00211921	0.0089	0.0016	0.0022	0	0.0098	0.0142	0.0061	0.0030	0.0073996	1144	154602	rs146874627	0.0088	0.0089	0.0089	0.0087	0.0100	0.0087	0.0086	0.0098	0.0098	0.0012	0.0031	0.0164	0	0.0061	0.0081	0.0100	0.0085	0.0021	0.0064	0.0065	0.0068	0.0054	0.0100	0.0060	0.0058	0.0093	0.0090	0.0013	0.0029	0.0044	0.0174	0	0.0041	0.0094	0.0100	0.0074	0.0020	0.021	0.49117	D	0.02	0.58613	D	0.929	0.51690	P	0.113	0.31689	B	0.404686	0.13077	U	0.702213	1	0.08975	N	0	0.06538	N	-0.07	0.63738	T	-1.15	0.29525	N	0.086	0.06322	-1.0016	0.29459	T	0.049	0.21026	T	10	0.004681617	0.00098	T	.	.	.	0.103	0.29403	.	.	0.377799810692	0.37387	0.42640651768739274	0.42557	0.00108011335869	0.00091	0.271109580994	0.06286	T	0.036219	0.24020	T	-0.585711	0.00178	T	-0.604715	0.12417	T	0.0351959300131901	0.02841	T	0.510949	0.16331	T	0.08045157	0.18436	0.08182378	0.18625	0.08045157	0.18436	0.08182378	0.18625	-7.775	0.59526	D	.	.	0.111	0.21390	B	.	.	1.255009	0.16525	12.59	0.98180243606286532	0.38941	0.00498	0.02351	N	ALL	.	.	.	.	.	.	.	.	.	0.999999998981444	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.584	0.11115	-0.808000	0.04622	-0.213000	0.10835	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.2945:0.4171:0.2885:0.0	3.303	0.06579	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.006203	0.006803	0.003711	0.003953	0.142857	0.011765	0.008889	0.000000	0.1	1462.12	39	chrX	57286949	.	C	T	1462.12	.	AC=2;AF=0.1;AN=20;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.11;SOR=0.823	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,99,1205	9	1	0	0
chrX	57594011	57594011	T	A	exonic	ZXDB	.	nonsynonymous SNV	ZXDB:NM_007157:exon1:c.T1963A:p.S655T	.	461	1006	39	16	0	71	0.0340855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	.	.	0.00476821	0.0102	0.0005	0.0021	0	0.0026	0.0124	0.0074	0.0266	0.000414	64	154602	rs200727091	0.0080	0.0079	0.0076	0.0088	0.0217	0.0078	0.0078	0.0179	0.0175	0.0012	0.0022	0.0024	3.422e-05	0.0024	0.0217	0.0084	0.0071	0.0189	0.0054	0.0055	0.0056	0.0045	0.0154	0.0050	0.0048	0.0110	0.0095	0.0009	0	0.0033	0.0020	0	0.0023	0.0051	0.0087	0.0056	0.0154	0.072	0.34982	T	0.259	0.23097	T	0.982	0.60036	D	0.952	0.69102	D	0.000935	0.41028	D	0.214546	0.645411	0.32914	D	2.69	0.78713	M	2.89	0.10196	T	-1.29	0.32387	N	0.057	0.02861	-1.0177	0.24463	T	0.056	0.23450	T	10	0.003385067	0.00059	T	.	.	.	0.068	0.19811	.	.	0.271610670623	0.26767	0.13645945271760762	0.13569	1.06917988701	0.76748	0.664134502411	0.62000	T	0.015966	0.13288	T	-0.689409	0.00042	T	-0.750091	0.03482	T	0.0196635630188806	0.00669	T	0.638236	0.25169	T	0.16438235	0.36641	0.20183867	0.44182	0.16438235	0.36641	0.20183867	0.44181	-3.943	0.22948	T	.	.	0.070	0.03552	B	.	.	1.238939	0.16346	12.48	0.96316169248732064	0.29397	0.43791	0.27176	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999977116689479	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77	3.77	0.42499	0.791000	0.26577	0.064000	0.14171	0.605000	0.46263	0.664000	0.28295	0.001000	0.17328	0.330000	0.25202	0.0:0.0:0.0:1.0	9.871	0.40341	434	0.80536	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.022149	0.021277	0.020952	0.005988	0.000000	0.000000	0.043243	0.029940	0.15	1842.43	42	chrX	57594011	.	T	A	1842.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.275;DP=293;ExcessHet=0;FS=0.928;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=29.64;MQRankSum=0.435;QD=20.7;ReadPosRankSum=1.45;SOR=0.559	GT:AD:DP:GQ:PL	0/0:23,0:23:60:0,60,900	8	1	1	0
chrX	64348684	64348684	C	T	exonic	MTMR8	.	nonsynonymous SNV	MTMR8:NM_017677:exon6:c.G708A:p.M236I	.	.	.	.	.	.	.	.	.	.	.	2254947	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.232	0.0339547160608	.	.	6.887e-05	0	0	0	0	4.193e-05	0	0.0004	5.82e-05	9	154602	rs749084903	3.281e-05	3.278e-05	2.179e-05	5.509e-05	0.0003	2.402e-05	2.131e-05	0.0002	0.0001	0	0	0	0	0	0	2.495e-05	0	0.0003	8.925e-06	8.705e-06	0	2.922e-05	1.88e-05	0	0	.	.	0	0	0	0	0	0	0	1.88e-05	0	0	0.285	0.15251	T	0.213	0.26467	T	0.019	0.17989	B	0.057	0.26280	B	0.043269	0.23756	U	0.313431	0.971197	0.38853	D	0.365	0.12025	N	-3.02	0.92258	D	-2.18	0.49187	N	0.029	0.00666	-0.2759	0.75652	T	0.538	0.82936	D	10	0.107062966	0.19870	T	0.033955	0.55345	D	0.232	0.53354	0.588	0.71623	0.779187872226	0.77714	0.49965509067083197	0.49886	0.00292671141453	0.00252	0.584353327751	0.50699	T	0.570123	0.85752	D	-0.345825	0.04995	T	-0.412564	0.31929	T	0.0641206353561728	0.07800	T	0.811819	0.46320	T	0.45026684	0.64057	0.31158525	0.57164	0.45026684	0.64058	0.31158525	0.57164	-6.666	0.51554	T	.	.	0.343	0.56111	A	.	.	1.634863	0.20867	14.95	0.93899757759594127	0.23928	0.62625	0.31838	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0100392947981125	0.11955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	1.66	0.23081	0.679000	0.24971	-0.021000	0.12925	0.530000	0.24713	1.000000	0.71638	0.955000	0.29136	0.999000	0.91618	0.0:0.7948:0.2051:0.0	10.018	0.41201	16	0.98727	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1368.12	33	chrX	64348684	.	C	T	1368.12	.	AC=2;AF=0.1;AN=20;DP=357;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.5;SOR=0.866	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1045	9	1	0	0
chrX	68063950	68063950	C	A	exonic	OPHN1	.	nonsynonymous SNV	OPHN1:NM_002547:exon21:c.G2062T:p.A688S	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, X-linked recessive	3	1510	6	3	0	12	0.00395778	.	.	.	581027	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00801115731321	0.0003	.	0.0002	0	0	0	0	0.0002	0	0.0006	0.0001164	18	154602	rs199985543	0.0001	0.0001	0.0001	0.0001	0.0008	9.517e-05	8.914e-05	0.0006	0.0005	3.791e-05	0	5.196e-05	0	0	0.0005	8.444e-05	0.0001	0.0008	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0003	0.0002	0	0	0	0	0	0	0.0047	0.0003	0	0.0012	0.214	0.19361	T	0.563	0.09022	T	0.437	0.35811	B	0.079	0.28749	B	0.628488	0.10710	N	0.840010	0.999998	0.58761	D	1.5	0.37844	L	0.37	0.57729	T	0.31	0.04022	N	0.013	0.00142	-1.0854	0.06335	T	0.065	0.26913	T	10	0.020160109	0.00460	T	0.008011	0.21239	T	0.052	0.14661	.	.	0.453355646836	0.44958	0.14333798803478884	0.14256	0.108704804716	0.12261	0.317064553499	0.12976	T	0.037865	0.24634	T	-0.636397	0.00088	T	-0.792232	0.02104	T	0.0361243636386479	0.03002	T	0.59504	0.22051	T	0.06756745	0.14643	0.077193834	0.17173	0.06756745	0.14643	0.077193834	0.17173	-3.13	0.11644	T	.	.	0.082	0.08512	B	.	.	0.938481	0.13140	9.642	0.95496962069569757	0.27082	0.66499	0.33099	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0963765374112277	0.16251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	2.27	0.27501	0.927000	0.28418	0.924000	0.22727	-0.823000	0.02940	1.000000	0.71638	1.000000	0.68203	0.886000	0.42526	0.1911:0.6018:0.0:0.207	3.806	0.08295	388	0.83355	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	2082.12	34	chrX	68063950	.	C	A	2082.12	.	AC=2;AF=0.1;AN=20;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.62;SOR=0.88	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2105,204,0	9	1	0	0
chrX	70259192	70259192	G	A	exonic	P2RY4	.	nonsynonymous SNV	P2RY4:NM_002565:exon1:c.C433T:p.R145C	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0671892039497	.	.	4.615e-05	0	0.0003	0	0	2.104e-05	0	0	3.88e-05	6	154602	rs779083147	1.457e-05	1.457e-05	1.633e-05	1.101e-05	0.0002	8.63e-06	6.98e-06	9.327e-05	6.58e-05	0	0.0002	0	0	2.474e-05	0	8.313e-06	2.169e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.075	0.42794	T	0.883	0.48537	P	0.534	0.48679	P	0.006502	0.31983	U	0.225320	0.999972	0.18612	N	1.95	0.52479	M	1.06	0.39781	T	-2.72	0.57920	D	0.08	0.05542	-0.7369	0.58611	T	0.200	0.55598	T	10	0.22726518	0.39602	T	0.067189	0.70095	D	0.137	0.36984	0.627	0.76254	0.71204735072	0.70952	0.38582829178056804	0.38497	0.125945359065	0.14199	0.44898211956	0.31804	T	0.193902	0.54951	T	-0.449655	0.01134	T	-0.587482	0.13884	T	0.260845759680666	0.23351	T	0.929107	0.73907	D	0.21791165	0.44286	0.21885228	0.46603	0.21791165	0.44286	0.21885228	0.46602	-7.821	0.59844	D	.	.	0.192	0.41156	B	.	.	2.600456	0.33751	19.43	0.99877407120082262	0.95410	0.09284	0.15071	N	AEFBI	.	.	.	.	.	.	.	.	.	0.682183300018903	0.22493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2	4.2	0.48814	1.618000	0.36565	.	.	0.665000	0.62972	0.006000	0.17386	0.004000	0.18990	0.940000	0.48062	0.0:0.0:0.7973:0.2027	10.840	0.45916	49	0.97662	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2637.43	40	chrX	70259192	.	G	A	2637.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=708;ExcessHet=0;FS=1.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-0.037;SOR=0.85	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,947	9	0	1	0
chrX	71132486	71132486	C	A	exonic	MED12	.	nonsynonymous SNV	MED12:NM_005120:exon31:c.C4363A:p.Q1455K	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.241700162124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.20683	T	0.008	0.67890	D	0.369	0.53992	B	0.228	0.53582	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.735	0.44892	L	-1.72	0.83241	D	-1.68	0.40082	N	0.447	0.48504	0.215	0.86169	D	0.573	0.84590	D	10	0.31668365	0.49087	T	0.242	0.88728	D	0.388	0.70440	0.18	0.08751	0.860353500639	0.85900	0.6648393513809717	0.66420	1.85016524394	0.92279	0.762914896011	0.76364	T	0.063556	0.76455	T	0.0957126	0.63826	D	-0.100292	0.63375	T	0.916253924369812	0.57361	D	0.952405	0.81824	D	0.70098966	0.78111	0.48342672	0.70093	0.70098966	0.78112	0.48342672	0.70093	-9.551	0.71176	D	0.3797417666767791	0.47431	0.486	0.63946	A	.;.;.	.;.;.	6.355741	0.95072	34	0.98931499766976383	0.48750	0.99687	0.98670	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999996063	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	4.15	0.47978	7.562000	0.81274	7.712000	0.66855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.180	0.81711	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	30.43	43	chrX	71132486	.	C	A	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.414;DP=332;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.715;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:31,0:31:81:.:.:0,81,1215:.	9	0	1	0
chrX	71132508	71132508	G	A	exonic	MED12	.	nonsynonymous SNV	MED12:NM_005120:exon31:c.G4385A:p.R1462H	Lujan-Fryns syndrome, X-linked recessive;Ohdo syndrome, X-linked, X-linked recessive;Opitz-Kaveggia syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	3989180	Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0532773367809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.23e-07	9.105e-07	1.368e-06	0	1.199e-06	0	0	.	.	0	0	0	0	0	0	1.199e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.48642	D	0.016	0.62352	D	0.999	0.77913	D	0.793	0.65636	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.895	0.22405	L	1.57	0.29342	T	-2.3	0.51157	N	0.189	0.22486	-0.9772	0.35638	T	0.118	0.41429	T	10	0.33247966	0.50453	T	0.053277	0.65404	D	0.189	0.46613	0.177	0.08379	0.570812337038	0.56747	0.2729233534793469	0.27205	2.73687855107	0.98670	0.808748006821	0.83301	D	0.06368	0.77069	T	-0.0744537	0.40612	T	-0.344724	0.39809	T	0.97456431388855	0.70561	D	0.782222	0.44648	T	0.51946896	0.68229	0.37043124	0.62293	0.51946896	0.68230	0.37043124	0.62292	-8.153	0.62392	D	0.1870124154972805	0.24366	0.479	0.65798	A	.;.;.	.;.;.	4.671454	0.74661	26.2	0.9993576874508725	0.99579	0.98980	0.89484	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999999996063	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.15	4.15	0.47978	5.550000	0.66974	3.576000	0.39140	0.676000	0.76740	1.000000	0.71638	0.822000	0.27135	0.996000	0.76049	0.0:0.0:1.0:0.0	16.180	0.81711	519	0.74455	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	36.43	43	chrX	71132508	.	G	A	36.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.449;DP=313;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=2.1;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:72:.:.:0,72,1080:.	9	0	1	0
chrX	71612921	71612921	G	A	exonic	GCNA	.	nonsynonymous SNV	GCNA:NM_052957:exon13:c.G2015A:p.G672E	.	.	.	.	.	.	.	.	.	.	.	3261886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.545	0.152402218779	9.5e-05	.	9.384e-05	0.0001	0	0	0	6.396e-05	0	0.0004	7.12e-05	11	154602	rs367815000	5.1e-05	5.099e-05	5.173e-05	4.952e-05	0.0002	4.027e-05	3.619e-05	6.058e-05	4.24e-05	0	0	0	0	0	0.0002	5.7e-05	0	0.0001	5.37e-05	6.093e-05	3.854e-05	8.852e-05	0.0007	2.327e-05	1.565e-05	0.0001	5.528e-05	0	0	0	0	0	0	0	7.525e-05	0	0.0007	0.002	0.72154	D	0.007	0.69154	D	1.0	0.90584	D	0.994	0.82059	D	.	.	.	.	0.999994	0.58761	D	2.485	0.72352	M	0.76	0.49919	T	-6.57	0.91912	D	0.368	0.40963	-0.4610	0.70034	T	0.294	0.66536	T	9	0.4491158	0.58585	T	0.152402	0.83382	D	0.545	0.81077	.	.	0.703120990762	0.70054	0.7768380179041626	0.77633	0.260186088043	0.28586	0.488753944635	0.37265	T	0.232897	0.59957	T	0.0381955	0.56810	T	0.113281	0.77790	D	0.396918185812601	0.28826	T	0.520648	0.16939	T	0.5679257	0.70946	0.60655797	0.77125	0.5679257	0.70947	0.60655797	0.77126	-8.015	0.61172	D	.	.	0.521	0.65533	A	.;.	.;.	2.146596	0.27338	17.43	0.98374754741387938	0.40791	0.97230	0.73460	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999999686793045	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	3.45	0.38602	6.189000	0.71974	3.973000	0.40841	-0.727000	0.03751	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.8075:0.1925	10.653	0.44854	253	0.90069	SprT-like;SprT-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2288.12	38	chrX	71612921	.	G	A	2288.12	.	AC=2;AF=0.1;AN=20;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.72;SOR=0.719	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	1	0	0
chrX	72129941	72129941	G	A	exonic	RTL5	.	nonsynonymous SNV	RTL5:NM_001024455:exon1:c.C1600T:p.R534C	.	433	1078	9	2	0	13	0.00599355	.	.	.	1196403	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.00205762552757	0.0003	0.000264901	0.0004	0	0	0	0	0.0007	0.0016	0.0001	0.0004075	63	154602	rs201122770	0.0004	0.0004	0.0004	0.0004	0.0085	0.0004	0.0004	0.0063	0.0055	0.0002	0.0001	0	0	2.468e-05	0.0085	0.0004	0.0009	0.0004	0.0003	0.0003	0.0004	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	3.259e-05	0	0.0002	0	0	0	0	0.0005	0.0033	0	.	.	.	0.039	0.51112	D	0.999	0.77913	D	0.681	0.53500	P	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	0.146	0.14763	-1.0553	0.12961	T	0.034	0.14813	T	8	0.04572305	0.03677	T	0.002058	0.03775	T	.	.	.	.	0.104622674875	0.10061	0.10675133778025742	0.10605	.	.	0.481512129307	0.36265	T	0.008167	0.07514	T	-0.343047	0.05179	T	-0.360625	0.37981	T	0.0234708476110938	0.01080	T	0.712229	0.32360	T	0.11841067	0.27899	0.1761174	0.40124	0.11841067	0.27899	0.1761174	0.40123	-7.391	0.56841	T	.	.	0.137	0.29887	B	.	.	2.047866	0.26035	16.97	0.97678823172180584	0.35300	0.13250	0.17750	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999909703249938	0.45458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.87	2.99	0.33673	0.751000	0.26013	5.958000	0.51771	0.676000	0.76740	0.770000	0.29357	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.7525:0.2475	7.799	0.28328	264	0.89640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.009649	0.000000	0.007421	0.011858	0.000000	0.023529	0.008850	0.015789	0.05	2920.43	38	chrX	72129941	.	G	A	2920.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.11;DP=620;ExcessHet=0;FS=1.034;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.87;ReadPosRankSum=0.932;SOR=0.785	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,101,1111	9	0	1	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.25	632.51	118	chrX	74591813	.	G	A	632.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.041;DP=664;ExcessHet=2.8389;FS=0.949;InbreedingCoeff=-0.3742;MLEAC=5;MLEAF=0.25;MQ=58.42;MQRankSum=-6.076;QD=1.81;ReadPosRankSum=-2.665;SOR=0.746	GT:AD:DP:GQ:PL	0/0:38,0:38:65:0,65,1404	5	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,14:168:99:0|1:74591902_T_A:124,0,6414:74591902	2	0	8	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.3	3679.98	394	chrX	74591957	.	C	T	3679.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.459;DP=1750;ExcessHet=4.5998;FS=3.02;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=58.76;MQRankSum=-13.15;QD=2.3;ReadPosRankSum=-2.776;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1345:.	4	0	6	0
chrX	75785041	75785041	A	G	exonic	MAGEE2	.	nonsynonymous SNV	MAGEE2:NM_138703:exon1:c.T11C:p.V4A	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00709480685192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.878e-07	9.105e-07	1.445e-06	0	3.391e-05	0	0	.	.	0	0	0	3.391e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.026	0.55759	D	0.984	0.60733	D	0.935	0.67021	D	.	.	.	.	0.973689	0.25533	N	1.1	0.28011	L	3.36	0.05918	T	-0.17	0.09627	N	0.315	0.35514	-1.0022	0.29284	T	0.024	0.10194	T	9	0.28062907	0.45639	T	0.007095	0.18786	T	0.070	0.20419	0.401	0.43081	0.566629817802	0.56326	0.426789600324093	0.42595	0.076962351002	0.08643	0.736687958241	0.72486	T	0.004696	0.04103	T	-0.267627	0.12022	T	-0.622204	0.11013	T	0.694611157277904	0.40463	D	0.432757	0.11777	T	0.108274765	0.25600	0.21569638	0.46169	0.108274765	0.25600	0.21569638	0.46168	-2.961	0.09767	T	.	.	0.154	0.33981	B	.	.	3.421312	0.47502	22.5	0.99622183160786404	0.75473	0.55012	0.29758	D	AEFBHCI	.	.	.	.	.	.	.	.	.	0.778642236857883	0.23799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.86	2.86	0.32427	2.471000	0.44786	8.154000	0.76719	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	6.717	0.22496	222	0.91398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	892.43	35	chrX	75785041	.	A	G	892.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.06;DP=388;ExcessHet=0;FS=2.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.67;SOR=1.002	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1090	9	0	1	0
chrX	76429971	76429971	A	G	exonic	MAGEE1	.	nonsynonymous SNV	MAGEE1:NM_020932:exon1:c.A2041G:p.M681V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0117351664862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.147	0.32783	T	0.872	0.47902	P	0.637	0.51992	P	.	.	.	.	1	0.08975	N	0.6	0.15550	N	4.13	0.02865	T	-1.54	0.37375	N	0.199	0.21969	-0.9200	0.45554	T	0.009	0.03096	T	9	0.19013369	0.34644	T	0.011735	0.29644	T	0.077	0.22490	0.308	0.27967	0.123314135267	0.11883	0.3757554135382434	0.37489	0.380110707672	0.39380	0.608645558357	0.54124	T	0.012534	0.11001	T	-0.395587	0.02475	T	-0.80601	0.01757	T	0.160753927982676	0.17927	T	0.473853	0.14122	T	0.16362625	0.36516	0.22304338	0.47170	0.16362625	0.36516	0.22304338	0.47169	-3.59	0.17713	T	.	.	0.167	0.36850	B	.	.	1.813487	0.23047	15.86	0.65384492911815251	0.07757	0.07585	0.13596	N	AEFBI	.	.	.	.	.	.	.	.	.	0.818258183788373	0.24477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.35	1.11	0.19640	0.156000	0.16200	0.421000	0.18220	0.660000	0.55035	0.938000	0.32564	0.000000	0.08366	0.997000	0.79791	0.6769:0.0:0.0:0.3231	3.998	0.09057	203	0.92088	MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1623.43	35	chrX	76429971	.	A	G	1623.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.402;DP=428;ExcessHet=0;FS=1.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-1.442;SOR=0.547	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1215	9	0	1	0
chrX	80704743	80704743	A	G	exonic	BRWD3	.	nonsynonymous SNV	BRWD3:NM_153252:exon23:c.T2656C:p.S886P	Mental retardation, X-linked 93, X-linked recessive	.	.	.	.	.	.	.	.	.	.	1859655	Inborn_genetic_diseases|Intellectual_disability,_X-linked_93	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010393,MedGen:C1970841,OMIM:300659	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.389	0.1382621176	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302507238	1.002e-05	1.002e-05	6.807e-06	1.653e-05	0.0005	5.38e-06	3.93e-06	8.518e-05	3.547e-05	0	0	0	0	0	0.0005	9.506e-06	0	1.848e-05	1.784e-05	1.742e-05	2.571e-05	0	3.759e-05	2.96e-06	1.11e-06	6.23e-06	2.33e-06	0	0	0	0	0	0	0	3.759e-05	0	0	0.085	0.32769	T	0.032	0.53426	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.005	0.85968	M	0.19	0.60236	T	-3.27	0.65512	D	0.573	0.59563	-0.5300	0.67541	T	0.304	0.67529	T	9	0.63860476	0.68926	D	0.138262	0.82076	D	0.389	0.70521	0.193	0.10437	0.846378076208	0.84490	0.5157468198618969	0.51497	2.26358370421	0.96201	0.598690986633	0.52719	T	0.27365	0.64611	T	0.145286	0.68826	D	-0.0290827	0.68430	D	0.888039668609059	0.53859	D	0.857114	0.54640	D	0.7886466	0.83189	0.7017698	0.82425	0.7886466	0.83190	0.7017698	0.82426	-9.308	0.69657	D	0.21831460123370247	0.29395	0.470	0.63162	A	.	.	4.254794	0.64612	24.7	0.99830148092842197	0.91198	0.98166	0.80172	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999885004579819	0.44867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	4.48	0.53973	8.718000	0.91150	11.080000	0.85733	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	13.223	0.59329	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2100.12	34	chrX	80704743	.	A	G	2100.12	.	AC=2;AF=0.1;AN=20;DP=383;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.27;SOR=0.772	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1050	9	1	0	0
chrX	85345867	85345867	C	G	exonic	POF1B	.	nonsynonymous SNV	POF1B:NM_001307940:exon6:c.G716C:p.C239S,POF1B:NM_024921:exon6:c.G716C:p.C239S	Premature ovarian failure 2B	4	1501	12	5	0	22	0.00727513	.	.	.	352987	Premature_ovarian_failure_2B|not_provided	MONDO:MONDO:0010373,MedGen:C1845105,OMIM:300604|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.026	.	0.0088	0.00397351	0.0096	0.0017	0.0011	0	0.0166	0.0142	0.0101	0.0042	0.0085057	1315	154602	rs147563033	0.0092	0.0092	0.0093	0.0091	0.0105	0.0091	0.0090	0.0103	0.0102	0.0011	0.0024	0.0010	3.359e-05	0.0151	0.0052	0.0105	0.0070	0.0042	0.0066	0.0067	0.0067	0.0065	0.0106	0.0062	0.0061	0.0099	0.0096	0.0016	0	0.0031	0.0011	0	0.0137	0	0.0106	0.0033	0.0029	0.429	0.09572	T	0.791	0.04181	T	0.007	0.14184	B	0.006	0.12133	B	0.995461	0.08001	N	0.997829	1	0.08975	N	-0.205	0.04094	N	3.03	0.08898	T	0.35	0.03761	N	0.079	0.05414	-0.9142	0.46325	T	0.010	0.03492	T	10	0.0040031075	0.00077	T	.	.	.	0.026	0.05648	0.366	0.37361	0.177238962908	0.17366	0.16096798308850868	0.16017	0.185179823169	0.20821	0.35507184267	0.18666	T	0.109109	0.42270	T	-0.792882	0.00009	T	-0.900666	0.00498	T	0.00361283273125933	0.00038	T	0.19558	0.02146	T	0.07154347	0.15846	0.10647079	0.25614	0.047734335	0.08208	0.10647079	0.25614	-1.73	0.02447	T	.	.	0.080	0.08224	B	.;.	.;.	-0.132603	0.03453	0.637	0.16059575269840681	0.00416	0.38039	0.25898	N	AEFGCI	.	.	.	.	.	.	.	.	.	3.79943363162852E-5	0.03775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.32	0.397	0.15537	0.664000	0.24749	1.994000	0.30091	-0.814000	0.03034	0.899000	0.31403	1.000000	0.68203	0.024000	0.12247	0.0:0.218:0.0:0.782	7.245	0.25292	877	0.30165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.006203	0.006803	0.005566	0.000000	0.000000	0.023529	0.000000	0.015789	0.05	1839.43	130	chrX	85345867	.	C	G	1839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.511;DP=437;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=-0.724;SOR=0.648	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1019	9	0	1	0
chrX	86148643	86148643	T	C	exonic	DACH2	.	nonsynonymous SNV	DACH2:NM_001139514:exon1:c.T23C:p.V8A,DACH2:NM_053281:exon1:c.T23C:p.V8A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.270126585564	9.5e-05	.	6.901e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs372249697	1.876e-05	1.912e-05	1.11e-05	3.471e-05	0.0003	1.225e-05	9.96e-06	0.0002	0.0001	0	0	0	0	0	0.0003	3.632e-06	2.231e-05	0.0003	2.703e-05	2.612e-05	3.858e-05	0	5.672e-05	7.18e-06	2.99e-06	1.505e-05	8.17e-06	0	0	0	0	0	0	0	5.672e-05	0	0	0.038	0.52492	D	0.385	0.16037	T	0.75	0.43260	P	0.554	0.49340	P	0.055873	0.22606	N	0.307980	0.869175	0.35530	D	0.695	0.17993	N	-1.99	0.85320	D	0.33	0.04613	N	0.113	0.12627	-0.2283	0.76932	T	0.460	0.79015	T	10	0.18623462	0.34080	T	0.270127	0.89846	D	0.280	0.59740	.	.	0.679697690268	0.67697	0.284635990108321	0.28376	0.39003678143	0.40224	0.768338322639	0.77177	T	0.082294	0.36795	T	-0.206867	0.19824	T	-0.242778	0.50528	T	0.13765742135028	0.16072	T	0.665133	0.27420	T	0.12608854	0.29542	0.17572379	0.40058	0.12608854	0.29541	0.17572379	0.40057	-3.62	0.18861	T	.	.	0.095	0.30130	B	.;.	.;.	2.106240	0.26800	17.24	0.98726427815802931	0.45289	0.78474	0.38721	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.983682901759247	0.30598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.64	4.64	0.57399	2.280000	0.43103	3.220000	0.36848	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.0:1.0	13.311	0.59815	949	0.11373	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	401.43	39	chrX	86148643	.	T	C	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.199;DP=281;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=1.46;SOR=0.567	GT:AD:DP:GQ:PL	0/0:14,0:14:42:0,42,418	9	0	1	0
chrX	87518112	87518117	ACTGGC	-	exonic	KLHL4	.	nonframeshift deletion	KLHL4:NM_019117:exon1:c.219_224del:p.L74_A75del,KLHL4:NM_057162:exon1:c.219_224del:p.L74_A75del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	3.84e-05	1	26028	rs746719631	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0006	0.0005	7.576e-05	0	0	0	4.939e-05	0	0.0002	2.17e-05	0.0008	7.136e-05	8.702e-05	2.57e-05	0.0002	0.0007	3.463e-05	2.511e-05	0.0001	5.509e-05	3.237e-05	0	0	0	0	0	0	9.395e-05	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2972.08	35	chrX	87518111	.	TACTGGC	T	2972.08	.	AC=2;AF=0.1;AN=20;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.5;SOR=1.146	GT:AD:DP:GQ:PL	1/1:0,67:67:99:2995,202,0	9	1	0	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	238.93	40	chrX	91436668	.	G	A	238.93	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.083;DP=730;ExcessHet=0.7463;FS=172.257;InbreedingCoeff=-0.1901;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.879;SOR=9.419	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1180	7	0	3	0
chrX	96738667	96738667	G	A	exonic	DIAPH2	.	nonsynonymous SNV	DIAPH2:NM_006729:exon3:c.G247A:p.A83T,DIAPH2:NM_007309:exon3:c.G247A:p.A83T	Premature ovarian failure	16	1496	7	3	0	13	0.00432612	.	.	.	717879	not_provided|Premature_ovarian_failure_2A	MedGen:C3661900|MONDO:MONDO:0010350,MedGen:C1845293,OMIM:300511	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.139	.	0.0072	0.0018543	0.0066	0.0015	0.0026	0	0.0075	0.0102	0.0080	0.0017	0.0067593	1045	154602	rs20374	0.0086	0.0087	0.0088	0.0083	0.0102	0.0085	0.0084	0.0100	0.0099	0.0007	0.0037	0.0007	0	0.0070	0.0051	0.0102	0.0070	0.0020	0.0063	0.0064	0.0069	0.0051	0.0106	0.0060	0.0058	0.0098	0.0095	0.0014	0.0015	0.0027	0.0008	0	0.0095	0.0093	0.0106	0.0066	0.0011	0.334	0.12961	T	0.369	0.16522	T	0.003	0.35185	B	0.003	0.17295	B	0.021744	0.26770	N	0.317981	1	0.08975	N	-0.49	0.02651	N	-1.4	0.80899	T	0.33	0.03889	N	0.036	0.02179	-0.9458	0.41681	T	0.163	0.49930	T	10	0.0035434961	0.00064	T	.	.	.	0.139	0.37390	.	.	0.573349579966	0.57003	0.2628030064812272	0.26193	0.315393690545	0.33817	0.296181857586	0.09834	T	0.225414	0.59015	T	-0.679394	0.00048	T	-0.738291	0.03963	T	0.0115623902065956	0.00175	T	0.656934	0.28590	T	0.08711413	0.20272	0.11687879	0.28216	0.07234743	0.16085	0.11687879	0.28215	-3.177	0.12202	T	.	.	0.067	0.02518	B	.;.;.;.;.	.;.;.;.;.	0.457584	0.08275	5.019	0.98235523041168726	0.39431	0.07731	0.13732	N	AEFGI	.	.	.	.	.	.	.	.	.	0.88857088110601	0.25792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.62	4.76	0.60189	0.148000	0.16042	0.271000	0.16657	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.899000	0.43558	0.0804:0.1345:0.644:0.141	5.599	0.16623	709	0.56835	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.007597	0.000000	0.007421	0.003968	0.000000	0.000000	0.017699	0.010526	0.1	861.12	33	chrX	96738667	.	G	A	861.12	.	AC=2;AF=0.1;AN=20;DP=294;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.7;SOR=0.693	GT:AD:DP:GQ:PL	0/0:21,0:21:63:0,63,602	9	1	0	0
chrX	101101134	101101134	A	G	exonic	CENPI	.	nonsynonymous SNV	CENPI:NM_001318523:exon1:c.A64G:p.S22G,CENPI:NM_006733:exon2:c.A64G:p.S22G,CENPI:NM_001318521:exon3:c.A64G:p.S22G	.	435	1082	3	2	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00806711514515	.	.	0.0001	0	0	0	0	0.0001	0	0.0007	0.0001552	24	154602	rs756978716	0.0001	0.0001	8.167e-05	0.0002	0.0012	9.322e-05	8.723e-05	0.0007	0.0006	3.788e-05	0	0	0	7.404e-05	0.0012	5.702e-05	0.0003	0.0009	0.0001	0.0001	5.138e-05	0.0002	0.0011	6.098e-05	4.796e-05	0.0003	0.0002	3.239e-05	0	9.564e-05	0	0	0	0	0.0001	0	0.0011	0.006	0.61437	D	0.211	0.39040	T	0.379	0.34321	B	0.197	0.36707	B	0.161957	0.17635	N	0.623726	1	0.08975	N	2.32	0.66415	M	.	.	.	-3.75	0.71157	D	0.038	0.01203	-0.9782	0.35413	T	0.115	0.40740	T	9	0.05924046	0.07090	T	0.008067	0.21393	T	0.048	0.13305	0.586	0.71371	0.503490013456	0.49987	0.16220429147848664	0.16140	0.453547560882	0.45046	0.301502674818	0.10625	T	0.067462	0.34036	T	-0.486088	0.00683	T	-0.568416	0.15595	T	0.127370544891984	0.15137	T	0.69563	0.30512	T	0.14671522	0.33572	0.16325995	0.37881	0.14671522	0.33572	0.16325995	0.37880	-4.338	0.29285	T	.	.	0.103	0.18539	B	.;.;.;.;.	.;.;.;.;.	1.857358	0.23593	16.08	0.99089110128888491	0.52173	0.08005	0.13984	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.99998778157432	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.85	3.63	0.40741	1.532000	0.35634	4.268000	0.42834	0.665000	0.62972	0.015000	0.19116	0.342000	0.24428	0.438000	0.27627	0.7904:0.2096:0.0:0.0	7.786	0.28255	103	0.95740	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1138.43	97	chrX	101101134	.	A	G	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.786;DP=402;ExcessHet=0;FS=0.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.647;SOR=0.553	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1087	9	0	1	0
chrX	101490261	101490261	G	C	exonic	ARMCX4	.	nonsynonymous SNV	ARMCX4:NM_001256155:exon2:c.G1672C:p.A558P	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.017737179562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6e-07	9.105e-07	0	2.934e-06	1.22e-06	0	0	.	.	0	0	0	0	0	0	1.22e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.8	0.25344	T	.	.	.	0.151	0.15469	-1.0178	0.24431	T	0.052	0.22076	T	4	0.082437515	0.13607	T	0.017737	0.39556	T	0.020	0.03691	.	.	0.18995819373	0.18626	0.19057574849772474	0.18975	.	.	0.26898920536	0.06010	T	.	.	.	-0.440627	0.01283	T	-0.870706	0.00736	T	0.197886496782303	0.20299	T	0.364964	0.08484	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.38941	B	.	.	1.800962	0.22893	15.80	0.84224674782475417	0.15168	0.09727	0.15418	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.782451526878275	0.23868	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	0.059	0.13644	-0.484000	0.06608	0.596000	0.19873	0.596000	0.33519	0.000000	0.06391	0.005000	0.19230	0.860000	0.40782	0.0994:0.1512:0.438:0.3114	2.746	0.04942	124	0.95048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1881.43	94	chrX	101490261	.	G	C	1881.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.74;DP=627;ExcessHet=0;FS=3.891;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.321;SOR=0.905	GT:AD:DP:GQ:PL	0/0:40,0:40:99:0,104,1259	9	0	1	0
chrX	101656880	101656897	CTGCAGCCCCAGTAGGTG	-	exonic	ARMCX2	.	nonframeshift deletion	ARMCX2:NM_014782:exon5:c.692_709del:p.A231_A236del,ARMCX2:NM_001282231:exon6:c.692_709del:p.A231_A236del,ARMCX2:NM_177949:exon6:c.692_709del:p.A231_A236del	.	440	1079	2	1	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010596	0.0002	0.0015	0.0002	0.0006	0	0	0	0	0.0001537	4	26028	rs781992902	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0023	0.0022	0.0014	0.0003	0	0.0028	2.469e-05	0.0002	9.738e-05	0.0004	3.694e-05	0.0004	0.0005	0.0004	0.0005	0.0012	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0006	0	0.0012	0	0	7.574e-05	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2178.08	81	chrX	101656879	.	TCTGCAGCCCCAGTAGGTG	T	2178.08	.	AC=2;AF=0.1;AN=20;DP=491;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.77;SOR=1.27	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,102,1460:.	9	1	0	0
chrX	101837842	101837842	T	C	splicing	NXF5	NM_032946:exon14:c.861-2A>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.734e-06	2.732e-06	2.722e-06	2.756e-06	0.0002	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0.0002	2.377e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0745386	0.40600	T	-0.344846	0.39794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.990415	0.58732	24.0	0.7594037366881613	0.11270	0.98145	0.79986	D	AEFI	.	.	.	.	.	.	.	.	.	0.00562926216291384	0.10996	.	.	.	.	.	.	.	.	.	.	.	.	0.692431	0.42671	2.33	2.33	0.27981	7.306000	0.78218	7.832000	0.70156	0.462000	0.21616	1.000000	0.71638	0.999000	0.35428	0.067000	0.16453	0.0:0.0:0.0:1.0	7.883	0.28794	111	0.95468	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	2612.43	34	chrX	101837842	.	T	C	2612.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.819;DP=392;ExcessHet=0;FS=5.216;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=59.43;MQRankSum=0.26;QD=22.52;ReadPosRankSum=0.249;SOR=1	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1331,114,0	8	1	1	0
chrX	102937494	102937494	A	G	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.A176G:p.D59G	.	0	1489	25	8	0	41	0.0135807	.	.	.	45690	not_provided|Deafness-intellectual_disability,_Martin-Probst_type_syndrome	MedGen:C3661900|MONDO:MONDO:0010353,MeSH:C564495,MedGen:C1845285,OMIM:300519,Orphanet:85321	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.545	0.00914952256515	0.0002	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0074	0.0079	0.0037	0.0041073	635	154602	rs145606134	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0055	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0053	0.0038	0.0037	0.0048	0.0046	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0053	0.0072	0.0027	0.0	0.91255	D	0.159	0.31527	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.999725	0.48557	D	1.17	0.29769	L	-1.43	0.80730	T	-5.98	0.89334	D	0.114	0.10198	-0.1217	0.79595	T	0.523	0.82202	D	10	0.013548255	0.00287	T	0.00915	0.24059	T	0.545	0.81077	.	.	0.946209569742	0.94564	0.8151536628486657	0.81471	1.42694036343	0.85735	0.395712047815	0.24472	T	0.393944	0.75322	T	-0.3125	0.07530	T	-0.219049	0.52828	T	0.0529671403931466	0.06013	T	0.970603	0.89432	D	0.86647743	0.88585	0.78075004	0.87075	0.8872234	0.90271	0.78075004	0.87076	-9.044	0.67981	D	.	.	0.170	0.37407	B	.	.	3.214743	0.43774	21.8	0.9970586797448715	0.80936	0.68189	0.33708	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0206921607590511	0.13282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	0.779	0.17694	3.121000	0.50131	.	.	0.587000	0.30956	1.000000	0.71638	0.997000	0.33255	0.978000	0.57271	0.9999:0.0:1.0E-4:0.0	5.606	0.16661	144	0.94257	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018031	0.000000	0.027933	0.011858	0.000000	0.011765	0.017778	0.015789	0.05	7132.43	34	chrX	102937494	.	A	G	7132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.185;DP=687;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.05;MQRankSum=-0.848;QD=20.03;ReadPosRankSum=-0.478;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1039:.	9	0	1	0
chrX	102937495	102937495	C	A	exonic	RAB40AL	.	nonsynonymous SNV	RAB40AL:NM_001031834:exon1:c.C177A:p.D59E	.	0	1489	25	8	0	41	0.0135807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.00674651568241	9.5e-05	0.0015894	0.0048	0.0002	0.0015	0	0.0022	0.0073	0.0079	0.0037	0.0041009	634	154602	rs138133927	0.0057	0.0057	0.0056	0.0059	0.0116	0.0056	0.0056	0.0090	0.0081	0.0009	0.0021	0.0340	0	0.0019	0.0116	0.0058	0.0062	0.0037	0.0041	0.0041	0.0039	0.0044	0.0052	0.0038	0.0036	0.0047	0.0045	0.0006	0.0029	0.0036	0.0348	0	0.0015	0.0046	0.0052	0.0072	0.0027	0.186	0.21467	T	0.223	0.25670	T	1.0	0.90584	D	1.0	0.97372	D	0.000202	0.47681	U	0.000000	0.995827	0.42875	D	0.8	0.19659	N	-1.46	0.80983	T	-2.59	0.55821	D	0.079	0.05414	-0.4167	0.71497	T	0.431	0.77303	T	10	0.012709081	0.00272	T	0.006747	0.17840	T	0.407	0.71946	0.579	0.70476	0.837426278938	0.83587	0.644573263597182	0.64392	0.618518087764	0.56239	0.414517879486	0.27081	T	0.374216	0.73806	T	-0.550421	0.00290	T	-0.560806	0.16301	T	0.0864815356212415	0.10795	T	0.89531	0.63576	D	0.29524654	0.52475	0.22132494	0.46939	0.34425616	0.56615	0.22132494	0.46938	-7.072	0.54558	T	.	.	0.280	0.51271	B	.	.	2.272102	0.29044	18.00	0.99452021776926569	0.65325	0.51442	0.28896	D	AEFGI	.	.	.	.	.	.	.	.	.	0.0141870613087505	0.12564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.779	-0.373	0.11893	-0.262000	0.08706	.	.	-0.315000	0.05944	0.974000	0.34632	0.150000	0.23170	0.977000	0.56843	0.0:0.7394:0.0:0.2606	5.090	0.14040	144	0.94257	Small GTP-binding protein domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018031	0.000000	0.027933	0.011858	0.000000	0.011765	0.017778	0.015789	0.05	7132.43	34	chrX	102937495	.	C	A	7132.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.81;DP=686;ExcessHet=0;FS=1.732;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.94;MQRankSum=-0.848;QD=20.03;ReadPosRankSum=-0.434;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1039:.	9	0	1	0
chrX	104013456	104013456	G	A	exonic	H2BW1	.	nonsynonymous SNV	H2BW1:NM_001002916:exon1:c.C205T:p.P69S	.	415	1095	4	8	0	20	0.00904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0003	0.0018543	0.0014	0	0	0.0002	0	0.0004	0.0033	0.0100	0.0013325	206	154602	rs142056526	0.0007	0.0007	0.0005	0.0010	0.0091	0.0006	0.0006	0.0084	0.0081	7.576e-05	2.841e-05	0	3.311e-05	0	0.0027	0.0002	0.0007	0.0091	0.0002	0.0003	0.0002	0.0004	0.0063	0.0002	0.0001	0.0040	0.0033	0	0	9.305e-05	0	0	0	0	0.0002	0.0006	0.0063	0.354	0.12148	T	0.862	0.03390	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	0.26	0.04380	N	0.042	0.01498	-0.9510	0.40799	T	0.020	0.08266	T	9	0.006279409	0.00142	T	.	.	.	0.011	0.01250	.	.	0.383760037723	0.37989	0.10350498165794607	0.10280	0.0104087271665	0.00958	0.252202391624	0.04004	T	.	.	.	-0.831986	0.00004	T	-0.961044	0.00229	T	0.0229975353072115	0.01023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11558	B	.;.	.;.	-1.090626	0.00652	0.018	0.6920171505637408	0.08897	0.12500	0.17307	N	AEFBI	.	.	.	.	.	.	.	.	.	1.19901015166295E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.66	-0.483	0.11472	-1.051000	0.03618	-9.698000	0.00788	-1.508000	0.01019	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1306:0.3775:0.4919:0.0	5.583	0.16543	465	0.78421	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.002065	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.010526	0.1	2694.12	37	chrX	104013456	.	G	A	2694.12	.	AC=2;AF=0.1;AN=20;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.27;SOR=0.761	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1052	9	1	0	0
chrX	105953052	105953052	G	A	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon28:c.G4532A:p.R1511Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.100376736559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310620401	9.333e-06	1.366e-05	9.605e-06	8.754e-06	7.712e-05	4.72e-06	3.44e-06	1.276e-05	4.77e-06	7.712e-05	0	0	0	0	0	4.85e-06	8.927e-05	0	8.936e-06	8.715e-06	1.286e-05	0	1.879e-05	0	0	.	.	0	0	0	0	0	0	0	1.879e-05	0	0	0.607	0.05517	T	1.0	0.24054	T	0.978	0.58756	D	0.665	0.52961	P	0.003268	0.35183	N	0.000000	0.963676	0.30849	N	0.22	0.09567	N	3.59	0.04544	T	1.29	0.01197	N	0.192	0.24510	-0.9712	0.36946	T	0.008	0.02801	T	10	0.17936581	0.33067	T	0.100377	0.77262	D	0.141	0.37795	0.671	0.80903	0.544616563029	0.54116	0.160381047828648	0.15959	.	.	0.340765118599	0.16553	T	0.069542	0.33736	T	-0.349545	0.04756	T	-0.739874	0.03896	T	0.19898120481026	0.20360	T	0.874313	0.58483	D	0.08465641	0.19604	0.06595036	0.13441	0.08465641	0.19604	0.06595036	0.13441	-3.059	0.10831	T	.	.	0.175	0.38227	B	.;.	.;.	3.529247	0.49512	22.8	0.36473162965347944	0.02348	0.80943	0.40455	D	AEFBI	.	.	.	.	.	.	.	.	.	0.0390535489101785	0.14376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.88	4.92	0.64147	4.684000	0.61374	6.479000	0.55733	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3465:0.0:0.6535:0.0	3.678	0.07834	38	0.97995	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) domain;Citron homology (CNH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1179.43	34	chrX	105953052	.	G	A	1179.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.89;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=-2.14;SOR=0.673	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,947	9	0	1	0
chrX	106821996	106821996	G	A	exonic	TBC1D8B	.	nonsynonymous SNV	TBC1D8B:NM_017752:exon4:c.G380A:p.G127E,TBC1D8B:NM_198881:exon4:c.G380A:p.G127E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.172439048508	.	.	1.173e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs747341691	9.121e-07	9.106e-07	0	2.76e-06	1.854e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.854e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.988	0.07048	T	1.0	0.01155	T	0.019	0.19712	B	0.025	0.20508	B	0.000046	0.53742	D	0.125363	0.999984	0.54805	D	0.69	0.16971	N	3.25	0.20255	T	-0.93	0.30762	N	0.176	0.25867	-1.0703	0.09348	T	0.026	0.11176	T	10	0.13226977	0.25175	T	0.172439	0.84942	D	0.093	0.26882	0.441	0.49648	0.220303561663	0.21668	0.5093646614819456	0.50858	0.104447900269	0.11818	0.754188656807	0.75065	T	0.030408	0.21564	T	-0.317853	0.07074	T	-0.537984	0.18495	T	0.183996594666775	0.19484	T	0.838216	0.51127	T	0.23744212	0.46608	0.30672336	0.56696	0.23744212	0.46608	0.30672336	0.56695	-5.17	0.39396	T	.	.	0.242	0.47676	B	.;.;.;.	.;.;.;.	3.631534	0.51449	23.1	0.82348952576753343	0.14146	0.94991	0.63042	D	AEFGI	.	.	.	.	.	.	.	.	.	0.998166884696514	0.36515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.61	5.61	0.85347	4.135000	0.57758	6.414000	0.55601	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0897:0.0:0.9103:0.0	10.724	0.45253	341	0.85936	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	834.43	33	chrX	106821996	.	G	A	834.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=307;ExcessHet=0;FS=1.172;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=0.505;SOR=0.948	GT:AD:DP:GQ:PL	0/0:32,0:32:96:0,96,1002	9	0	1	0
chrX	107597478	107597478	G	T	exonic	FRMPD3	.	nonsynonymous SNV	FRMPD3:NM_032428:exon15:c.G1698T:p.M566I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.020221352277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.074	0.42976	T	.	.	.	.	.	.	0.000001	0.62929	D	0.059268	0.963695	0.26014	N	1.61	0.41143	L	0.92	0.44461	T	-1.07	0.27876	N	0.399	0.43995	-1.0040	0.28755	T	0.115	0.40808	T	8	0.29202157	0.46780	T	0.020221	0.42769	T	0.151	0.39764	0.187	0.09646	0.716984601551	0.71450	0.46247178280610884	0.46165	0.202117880483	0.22627	.	.	.	0.006972	0.14237	T	-0.15718	0.27196	T	-0.463555	0.26214	T	0.896074712276459	0.54773	D	0.835616	0.50622	T	0.79222447	0.83412	0.79564935	0.87997	0.79222447	0.83414	0.79564935	0.87998	-2.548	0.06118	T	.	.	0.616	0.80305	P	.;.	.;.	3.437893	0.47809	22.5	0.99145084450446896	0.53655	0.92829	0.56647	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.941971109108724	0.27501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.93	4.93	0.64394	4.310000	0.58934	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	16.205	0.81944	26	0.98304	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2326.43	172	chrX	107597478	.	G	T	2326.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=487;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=0.135;SOR=0.706	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1006	9	0	1	0
chrX	107981733	107981733	G	C	exonic	TEX13B	.	nonsynonymous SNV	TEX13B:NM_031273:exon2:c.C395G:p.T132S	.	426	1040	29	27	0	83	0.0383726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0041	0.00715232	0.0107	0.0017	0.0012	0.0002	0.0208	0.0093	0.0230	0.0409	0.0098964	1530	154602	rs144538520	0.0074	0.0074	0.0067	0.0090	0.0357	0.0073	0.0072	0.0343	0.0338	0.0008	0.0011	0.0011	6.626e-05	0.0207	0.0136	0.0059	0.0069	0.0357	0.0059	0.0060	0.0054	0.0071	0.0334	0.0055	0.0054	0.0277	0.0256	0.0008	0	0.0027	0.0008	0.0003	0.0220	0.0183	0.0070	0.0046	0.0334	0.055	0.38407	T	0.072	0.43344	T	0.473	0.36591	P	0.19	0.36341	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	.	.	.	-1.94	0.45042	N	0.064	0.03613	-1.0435	0.16265	T	0.038	0.16505	T	8	0.0036247373	0.00066	T	.	.	.	0.034	0.08419	0.141	0.04462	.	.	0.05130291475236664	0.05072	0.454918704517	0.45175	0.351358294487	0.18122	T	0.014065	0.12045	T	-0.758781	0.00015	T	-0.836951	0.01145	T	0.004441021523127	0.00047	T	0.354465	0.08000	T	0.07995067	0.18293	0.07362963	0.16021	0.07995067	0.18293	0.07362963	0.16021	-6.018	0.46431	T	.	.	0.203	0.42720	B	.	.	-0.130754	0.03462	0.642	0.62979613999287676	0.07103	0.05061	0.10852	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00245125484351227	0.09445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.89	0.013	0.13417	0.707000	0.25379	-0.649000	0.08038	-0.139000	0.12461	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.3637:0.0:0.4321:0.2042	2.812	0.05111	18	0.98631	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011042	0.000000	0.007421	0.015810	0.000000	0.000000	0.004425	0.036842	0.05	2342.43	209	chrX	107981733	.	G	C	2342.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=541;ExcessHet=0;FS=1.704;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=0.422;SOR=0.855	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1009	9	0	1	0
chrX	111744726	111744728	ACC	-	exonic	ALG13	.	nonframeshift deletion	ALG13:NM_001099922:exon24:c.2754_2756del:p.P945del,ALG13:NM_001257231:exon24:c.2520_2522del:p.P867del	Epileptic encephalopathy, early infantile, 36, X-linked dominant	209	1301	2	3	7	15	0.00306513	.	.	.	488365	not_provided|Developmental_and_epileptic_encephalopathy,_36|not_specified|ALG13-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	4.531e-05	0	0	0	0	8.02e-05	0	0	3.84e-05	1	26028	rs759349340	0.0016	0.0070	0.0022	0.0002	0.0025	0.0015	0.0015	0.0022	0.0020	0.0021	0.0010	0.0007	0.0010	0.0004	0.0009	0.0016	0.0017	0.0025	0.0010	0.0019	0.0013	0.0002	0.0023	0.0009	0.0008	0.0015	0.0013	0.0019	0	0.0009	0	0.0023	0.0003	0	0.0007	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1558.39	112	chrX	111744725	.	TACC	T	1558.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.241;DP=517;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.233;SOR=0.62	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	9	0	1	0
chrX	111744740	111744740	C	T	exonic	ALG13	.	nonsynonymous SNV	ALG13:NM_001099922:exon24:c.C2768T:p.P923L,ALG13:NM_001257231:exon24:c.C2534T:p.P845L	Epileptic encephalopathy, early infantile, 36, X-linked dominant	654	866	1	0	1	2	0.000577034	.	.	.	1300432	Developmental_and_epileptic_encephalopathy,_36|not_provided	MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00412533288095	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047232159	2.122e-06	4.611e-06	1.484e-06	3.725e-06	2.691e-06	3.5e-07	1.3e-07	4.5e-07	1.7e-07	0	0	0	0	0	0	2.691e-06	0	0	2.109e-05	1.799e-05	1.354e-05	4.763e-05	4.233e-05	3.5e-06	1.31e-06	7.02e-06	2.63e-06	0	0	0	0	0	0	0	4.233e-05	0	0	0.311	0.13971	T	0.015	0.63918	D	0.001	0.09854	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.57	0.13552	T	-0.57	0.17210	N	0.319	0.36674	-0.9500	0.40972	T	0.023	0.09878	T	9	0.0726859	0.10883	T	0.004125	0.09869	T	0.033	0.08068	.	.	0.202312658747	0.19855	0.12072852462948136	0.11999	0.229146923257	0.25477	0.671368002892	0.63033	T	0.234269	0.60126	T	-0.354687	0.04439	T	-0.74726	0.03594	T	0.070731392063292	0.08753	T	0.441056	0.12198	T	0.051979087	0.09625	0.06890565	0.14451	0.051979087	0.09625	0.06890565	0.14451	-7.139	0.55582	T	.	.	0.093	0.20857	B	.;.	.;.	0.256523	0.06355	2.816	0.97265682194445291	0.33112	0.04393	0.09975	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00262573375994294	0.09584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.957	0.18736	1.171000	0.31505	1.886000	0.29485	0.513000	0.23382	0.001000	0.13787	0.135000	0.23037	0.033000	0.13494	0.0:0.5362:0.0:0.4638	6.352	0.20586	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2532.43	148	chrX	111744740	.	C	T	2532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=719;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=4.13;SOR=0.885	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1138	9	0	1	0
chrX	112809934	112809934	-	GGGG	exonic	AMOT	.	frameshift insertion	AMOT:NM_001113490:exon4:c.1589_1590insCCCC:p.E531Pfs*16,AMOT:NM_133265:exon5:c.362_363insCCCC:p.E122Pfs*16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	33.39	38	chrX	112809934	.	T	TGGGG	33.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=323;ExcessHet=0;FS=12.768;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.88;ReadPosRankSum=0.173;SOR=3.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:27,0:27:81:.:.:0,81,822:.	9	0	1	0
chrX	112809937	112809940	CCCC	-	exonic	AMOT	.	frameshift deletion	AMOT:NM_001113490:exon4:c.1584_1587del:p.E528Dfs*51,AMOT:NM_133265:exon5:c.357_360del:p.E119Dfs*51	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	34.01	38	chrX	112809936	.	ACCCC	A	34.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.2;DP=319;ExcessHet=0;FS=12.768;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.843;SOR=3.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:26,0:26:78:.:.:0,78,769:.	8	0	1	1
chrX	115124004	115124004	-	A	splicing	LRCH2	NM_001243963:exon16:c.1741-2->T;NM_020871:exon17:c.1792-2->T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.78e-05	0.0008	0	0	0	0	0	0	0.0003074	8	26028	rs782624065	0.0004	0.0017	0.0005	5.92e-05	0.0009	0.0004	0.0003	0.0004	0.0003	0.0006	0.0005	0.0005	0.0003	6.009e-05	0.0009	0.0004	0.0004	0.0002	0.0002	0.0001	0.0002	6.078e-05	0.0004	9.767e-05	8.05e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0	5.706e-05	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	32.12	16	chrX	115124004	.	T	TA	32.12	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0;DP=47;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.063;MQ=60;MQRankSum=0;QD=6.42;ReadPosRankSum=-1.645;SOR=0.368	GT:AD:DP:GQ:PL	0/0:4,0:4:12:0,12,132	7	0	1	2
chrX	115190343	115190343	G	A	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G902A:p.R301Q	.	436	1072	8	6	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00555910250286	.	0.000529801	0.0017	0	0	0	0	0.0004	0	0.0081	0.0003493	54	154602	rs782148400	0.0006	0.0006	0.0005	0.0008	0.0058	0.0006	0.0005	0.0053	0.0051	4.057e-05	3.71e-05	0	0	0	0.0030	0.0004	0.0006	0.0058	0.0003	0.0003	0.0003	0.0004	0.0034	0.0003	0.0002	0.0017	0.0013	6.425e-05	0	0.0003	0	0	0	0.0092	0.0004	0.0007	0.0034	0.001	0.78490	D	0.009	0.66756	D	0.961	0.55431	D	0.056	0.26147	B	.	.	.	.	0.999993	0.58761	D	0.345	0.11182	N	3.31	0.06291	T	-2.14	0.48523	N	0.08	0.05542	-0.9108	0.46756	T	0.011	0.04088	T	8	0.0052516162	0.00115	T	0.005559	0.14349	T	0.127	0.34888	.	.	0.0806252709748	0.07271	0.02179087180370503	0.02131	.	.	0.323629528284	0.13971	T	0.219223	0.58217	T	-0.691757	0.00041	T	-0.763826	0.02977	T	0.122868388725934	0.14708	T	0.651035	0.26183	T	0.1228379	0.28857	0.21272378	0.45753	0.1228379	0.28857	0.21272378	0.45752	-4.448	0.30203	T	.	.	0.196	0.41753	B	.	.	2.253689	0.28792	17.91	0.97920023763002328	0.36879	0.33780	0.24911	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.390695504827626	0.20044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.869	0.18233	3.148000	0.50343	3.062000	0.36164	-0.574000	0.04772	1.000000	0.71638	0.214000	0.23665	0.005000	0.06747	.	.	.	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.001160	0.000000	0.000000	0.000000	0.000000	0.031250	0.000000	0.000000	0.1	3319.12	120	chrX	115190343	.	G	A	3319.12	.	AC=2;AF=0.1;AN=20;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.31;SOR=0.693	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,99,1126	9	1	0	0
chrX	115191251	115191251	G	C	exonic	RBMXL3	.	nonsynonymous SNV	RBMXL3:NM_001145346:exon1:c.G1810C:p.G604R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00110957278096	.	.	6.42e-05	0	0	0	0	0	0	0.0002	.	.	.	rs782710190	3.831e-06	3.644e-06	2.844e-06	5.866e-06	8.111e-05	9e-07	6.1e-07	2.691e-05	1.574e-05	0	0	0	0	0	0	0	0	8.111e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.009	0.66756	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	0.823741	0.28849	N	0.55	0.14455	N	3.16	0.07711	T	-0.92	0.24676	N	0.089	0.06720	-1.0093	0.27136	T	0.024	0.10284	T	9	0.10722035	0.19907	T	0.00111	0.01336	T	0.045	0.12272	0.223	0.14665	0.0297737177859	0.01360	0.013959050396835768	0.01352	.	.	0.465356886387	0.34044	T	0.00635	0.05784	T	-0.478669	0.00753	T	-0.925351	0.00352	T	0.333493186673047	0.26365	T	0.377362	0.09032	T	0.10245201	0.24209	0.17778194	0.40403	0.10245201	0.24209	0.17778194	0.40402	-6.235	0.48205	T	.	.	0.258	0.49235	B	.	.	0.706112	0.10749	7.438	0.99485778274628633	0.67124	0.01046	0.03903	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00406908259766134	0.10401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.853	0.853	0.18139	-0.275000	0.08557	-0.279000	0.10284	0.304000	0.19002	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.3355:0.0:0.6645:0.0	3.849	0.08457	937	0.14592	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	3094.43	292	chrX	115191251	.	G	C	3094.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.088;DP=1331;ExcessHet=0;FS=4.584;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.88;MQRankSum=0.941;QD=10.6;ReadPosRankSum=1.55;SOR=0.712	GT:AD:DP:GQ:PL	0/0:96,0:96:99:0,120,1800	9	0	1	0
chrX	118346576	118346576	G	A	exonic	WDR44	.	nonsynonymous SNV	WDR44:NM_001184965:exon1:c.G73A:p.V25M,WDR44:NM_001184966:exon1:c.G73A:p.V25M,WDR44:NM_019045:exon1:c.G73A:p.V25M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.0329487250461	0.0008	0.000264901	0.0007	0	0.0007	0	0	0.0010	0	0.0008	0.0006727	104	154602	rs187698818	0.0007	0.0007	0.0007	0.0006	0.0055	0.0006	0.0006	0.0037	0.0031	0.0001	0.0005	0.0051	3.491e-05	5.024e-05	0.0055	0.0006	0.0010	0.0004	0.0006	0.0006	0.0007	0.0005	0.0008	0.0005	0.0005	0.0006	0.0006	6.553e-05	0.0015	0.0004	0.0061	0	0	0.0046	0.0008	0	0	0.078	0.38185	T	0.228	0.34359	T	0.212	0.32920	B	0.035	0.28532	B	0.598794	0.10979	N	0.807531	1	0.08975	N	1.355	0.33814	L	-0.89	0.74793	T	-0.27	0.11366	N	0.148	0.15046	-0.9574	0.39662	T	0.182	0.52965	T	10	0.0048140883	0.00102	T	0.032949	0.54634	D	0.055	0.15663	.	.	0.284112513307	0.28011	0.05988480309334891	0.05928	0.224643676936	0.24998	0.361828774214	0.19652	T	0.113065	0.42981	T	-0.474375	0.00799	T	-0.526988	0.19589	T	0.00422034054563488	0.00045	T	0.813919	0.47665	T	0.06921623	0.15145	0.114033476	0.27525	0.06921623	0.15145	0.114033476	0.27524	-5.265	0.41464	T	.	.	0.246	0.48050	B	.;.;.	.;.;.	1.471088	0.18947	14.01	0.97075750636822389	0.32260	0.09800	0.15473	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999969169477	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.787	0.17740	0.481000	0.21969	1.945000	0.29852	0.672000	0.70159	0.001000	0.13787	0.018000	0.20648	0.959000	0.51448	0.2082:0.0:0.4186:0.3732	3.363	0.06775	758	0.50837	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.003446	0.000000	0.007421	0.003953	0.000000	0.000000	0.000000	0.000000	0.1	1623.12	37	chrX	118346576	.	G	A	1623.12	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=28.48;SOR=0.8	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1024	9	1	0	0
chrX	119605784	119605784	G	T	exonic	NKRF	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.186e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.34	1	chrX	119605784	.	G	T	34.34	.	AC=2;AF=0.111;AN=18;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.17;SOR=0.693	GT:AD:DP:GQ:PL	0/0:2,0:2:6:0,6,49	8	1	0	1
chrX	120159182	120159182	G	A	exonic	RHOXF2;RHOXF2B	.	nonsynonymous SNV	RHOXF2B:NM_001099685:exon2:c.G247A:p.A83T,RHOXF2:NM_032498:exon2:c.G247A:p.A83T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	.	0.0058	0.00423841	0.0020	0.0173	0.0010	0	0	6.357e-05	0.0033	0.0017	0.0015071	233	154602	rs145501005	0.0006	0.0006	0.0007	0.0004	0.0155	0.0005	0.0005	0.0143	0.0138	0.0155	0.0015	0	0	0	0.0010	5.114e-05	0.0014	0.0014	0.0043	0.0049	0.0051	0.0025	0.0146	0.0040	0.0039	0.0135	0.0130	0.0146	0	0.0021	0	0	0	0.0046	0.0002	0.0060	0.0008	0.697	0.04213	T	0.434	0.13557	T	0.972	0.57405	D	0.585	0.50320	P	.	.	.	.	1	0.08975	N	0.145	0.08828	N	-2.94	0.91851	D	0.57	0.02638	N	0.032	0.00825	-0.4687	0.69770	T	0.312	0.68220	T	9	0.0043082833	0.00087	T	.	.	.	0.271	0.58633	.	.	0.182106788282	0.17826	0.062111799702617265	0.06151	1.84720833392	0.92245	0.294213175774	0.09540	T	0.009456	0.08612	T	-0.626585	0.00100	T	-0.659196	0.08321	T	0.0182163499870305	0.00542	T	0.265573	0.04334	T	0.02980009	0.02535	0.068799615	0.14414	0.02980009	0.02534	0.068799615	0.14414	-5.026	0.37121	T	.	.	0.070	0.03336	B	.	.	-1.595531	0.00242	0.004	0.92195039762088904	0.21564	0.03231	0.08245	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.018996162786571	0.13118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.02	0.068	0.13682	-2.653000	0.00928	-7.006000	0.01253	-2.361000	0.00305	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1927:0.2873:0.52:0.0	2.994	0.05626	900	0.24599	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.003915	0.000000	0.005607	0.014706	0.000000	0.000000	0.000000	0.000000	0.2	3944.53	36	chrX	120159182	.	G	A	3944.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.157;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=40.15;MQRankSum=1.24;QD=29.66;ReadPosRankSum=1.49;SOR=0.561	GT:AD:DP:GQ:PL	0/0:27,0:27:81:0,81,849	8	2	0	0
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S,ATP1B4:NM_012069:exon8:c.A910T:p.T304S	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.021424	0.000000	0.018553	0.035573	0.000000	0.011765	0.026549	0.026316	0.1	643.12	34	chrX	120379482	.	A	T	643.12	.	AC=2;AF=0.1;AN=20;DP=284;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.62;SOR=1.508	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1050	9	1	0	0
chrX	125322151	125322151	C	G	exonic	TEX13C	.	nonsynonymous SNV	TEX13C:NM_001195272:exon1:c.C2032G:p.P678A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000529801	0.0002	0.0041	0	0	0	0	0	0	7.68e-05	2	26028	rs781099974	0.0002	0.0002	0.0003	0.0001	0.0043	0.0002	0.0002	0.0034	0.0031	0.0043	0.0003	0	0	0	0.0007	1.285e-05	0.0007	0	0.0011	0.0012	0.0013	0.0004	0.0042	0.0009	0.0009	0.0035	0.0032	0.0042	0	0.0003	0	0	0	0	2.241e-05	0.0009	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.007076949	0.00161	T	.	.	.	.	.	.	.	.	.	0.02885650039510475	0.02835	.	.	0.290801823139	0.09039	T	0.032233	0.22396	T	.	.	.	.	.	.	.	.	.	0.337066	0.07215	T	0.029817805	0.02540	0.07703134	0.17119	0.029817805	0.02540	0.07703134	0.17119	-6.576	0.50869	T	.	.	0.411	0.60199	A	.	.	-0.491861	0.01894	0.156	0.44585277230600173	0.03438	0.01539	0.05057	N	AEFI	.	.	.	.	.	.	.	.	.	1.69574411765972E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0448725	0.03863	1.85	-0.102	0.12951	-1.235000	0.03037	-15.654000	0.00347	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4853:0.304:0.2107	2.741	0.04930	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.006849	0.020408	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	7474.12	41	chrX	125322151	.	C	G	7474.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.1;DP=646;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=52.19;MQRankSum=-0.497;QD=29.43;ReadPosRankSum=-0.957;SOR=0.827	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	1	0	0
chrX	128051332	128051332	T	C	exonic	ACTRT1	.	nonsynonymous SNV	ACTRT1:NM_138289:exon1:c.A875G:p.N292S	.	432	1088	1	1	0	3	0.00137678	.	.	.	729395	ACTRT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0002	0.00980132	0.0043	0.0002	0.0002	0.0189	0	0.0003	0.0047	0.0228	0.0041526	642	154602	rs144040239	0.0018	0.0018	0.0014	0.0027	0.0232	0.0018	0.0017	0.0221	0.0217	7.575e-05	5.681e-05	0.0002	0.0165	0	0	0.0002	0.0025	0.0232	0.0013	0.0014	0.0011	0.0018	0.0228	0.0011	0.0011	0.0181	0.0163	0.0001	0	0.0002	0	0.0210	0	0	0.0002	0	0.0228	0.001	0.78490	D	0.093	0.39799	T	0.068	0.23728	B	0.053	0.25678	B	0.959912	0.08231	N	0.979351	0.999724	0.20581	P	-0.335	0.03518	N	-3.34	0.93975	D	-0.35	0.12847	N	0.009	0.00081	-0.4540	0.70268	T	0.441	0.77940	T	9	0.0028595328	0.00046	T	.	.	.	0.167	0.42761	.	.	0.963932189499	0.96354	0.05842282876162072	0.05783	0.0227418883383	0.02294	0.356238663197	0.18837	T	0.234293	0.60129	T	-0.500566	0.00568	T	-0.471533	0.25351	T	0.0188815835424042	0.00598	T	0.884412	0.60756	D	0.12419294	0.29144	0.19353229	0.42928	0.12419294	0.29144	0.19353229	0.42927	-2.933	0.09477	T	.	.	0.078	0.07036	B	.	.	0.342767	0.07164	3.747	0.89093378480203977	0.18505	0.64423	0.32402	D	AEFI	.	.	.	.	.	.	.	.	.	1.64707869108042E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.58	-0.401	0.11789	1.280000	0.32807	-0.041000	0.12668	-0.123000	0.13640	0.825000	0.30060	0.000000	0.08366	0.209000	0.22154	0.189:0.1148:0.1727:0.5236	1.184	0.01738	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.002753	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.010526	0.05	2111.43	36	chrX	128051332	.	T	C	2111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.8;DP=476;ExcessHet=0;FS=7.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.64;SOR=0.539	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,996	9	0	1	0
chrX	129540739	129540739	C	T	splicing	OCRL	NM_001318784:exon2:c.40-2C>T	.	.	Dent disease 2, X-linked recessive;Lowe syndrome, X-linked recessive	.	.	.	.	.	.	.	.	.	.	208866	not_specified|Nephrolithiasis/nephrocalcinosis|Lowe_syndrome|not_provided	MedGen:CN169374|MedGen:CN580796|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphanet:534|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0004	0.0013245	0.0002	0.0024	0.0001	0	0	0	0	0	0.0002393	37	154602	rs201211377	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0030	0.0039	0	0	0	0	0.0015	1.671e-05	0.0005	0	0.0008	0.0009	0.0008	0.0008	0.0029	0.0007	0.0006	0.0024	0.0022	0.0029	0	0.0002	0	0	0	0	0	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1730.12	33	chrX	129540739	.	C	T	1730.12	.	AC=2;AF=0.1;AN=20;DP=365;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.32;SOR=1.421	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1079	9	1	0	0
chrX	130015675	130015675	C	T	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.C2903T:p.P968L,BCORL1:NM_001379451:exon4:c.C2903T:p.P968L,BCORL1:NM_021946:exon4:c.C2903T:p.P968L,BCORL1:NM_001184772:exon5:c.C2903T:p.P968L	.	.	.	.	.	.	.	.	.	.	.	377752	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.062	0.0455335532336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057522774	9.106e-07	9.105e-07	0	2.751e-06	1.187e-06	0	0	.	.	0	0	0	0	0	0	1.187e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	.	.	.	.	.	.	0.002626	0.36208	N	0.000000	0.999966	0.58761	D	.	.	.	0.66	0.52416	T	-2.17	0.59059	N	0.139	0.15187	-0.8955	0.48437	T	0.145	0.46805	T	10	0.22638425	0.39492	T	0.045534	0.62027	D	0.062	0.17934	0.28	0.23483	0.250512400709	0.24649	0.3154304744124127	0.31456	0.988027751352	0.73976	0.314581632614	0.12600	T	0.029618	0.21180	T	-0.188311	0.22507	T	-0.508272	0.21492	T	0.797715161658799	0.46199	D	0.769823	0.39947	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.06896	B	.;.;.	.;.;.	2.812999	0.37040	20.4	0.99821877145779758	0.90502	0.85202	0.44314	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.419282137340248	0.20278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	4.3	0.50540	3.603000	0.53825	5.901000	0.50888	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.9188:0.0:0.0812	12.857	0.57275	428	0.80967	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2142.12	38	chrX	130015675	.	C	T	2142.12	.	AC=2;AF=0.1;AN=20;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=34;SOR=0.79	GT:AD:DP:GQ:PL	0/0:37,0:37:99:0,102,1193	9	1	0	0
chrX	130037465	130037465	G	C	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_021946:exon9:c.G4404C:p.W1468C,BCORL1:NM_001379450:exon10:c.G4626C:p.W1542C,BCORL1:NM_001379451:exon10:c.G4626C:p.W1542C,BCORL1:NM_001184772:exon11:c.G4626C:p.W1542C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.611	0.90846864204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.008445	0.30835	N	0.000000	1	0.81001	D	.	.	.	-0.04	0.70133	T	-10.7	0.99376	D	0.787	0.79118	-0.1559	0.78771	T	0.317	0.68664	T	10	0.9441531	0.93739	D	0.908469	0.99316	D	0.611	0.84773	0.706	0.84236	0.947644542773	0.94709	0.9761163991730438	0.97601	1.60845377238	0.88855	0.78032708168	0.78976	T	0.195907	0.55213	T	0.404881	0.90195	D	0.343807	0.90071	D	0.9997518658638	0.98831	D	0.953705	0.82322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	0.96661	P	.;.;.	.;.;.	4.361537	0.67072	25.0	0.99189171163999446	0.54935	0.99827	0.99715	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999991068464	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.69	5.69	0.88346	9.602000	0.97623	11.786000	0.96242	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:1.0:0.0	18.829	0.92098	428	0.80967	.;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3007.12	35	chrX	130037465	.	G	C	3007.12	.	AC=2;AF=0.1;AN=20;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=30.07;SOR=1.007	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1224	9	1	0	0
chrX	130346693	130346693	-	GA	splicing	SLC25A14	NM_001282198:exon3:c.212+2->GA;NM_001282197:exon4:c.308+2->GA;NM_001282195:exon4:c.317+2->GA;NM_001282196:exon4:c.308+2->GA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.624e-06	4.554e-06	5.452e-06	2.877e-06	0.0002	1.35e-06	9.9e-07	7.525e-05	4.871e-05	0.0002	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2613.08	34	chrX	130346693	.	T	TGA	2613.08	.	AC=2;AF=0.1;AN=20;DP=384;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=23.53;SOR=1.197	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1064	9	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:18,13:38:64:64,0,284	2	0	8	0
chrX	136874454	136874454	T	A	splicing	RBMX	NM_002139:exon9:c.866-2A>T	.	.	.	445	1073	4	0	0	4	0.00186047	1.0000	0.946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1430362735	0	1.5e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176775	0.71745	D	0.016149	0.71380	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.960501	0.95966	35	0.98945982966482604	0.49036	0.99128	0.91637	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999999548	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.876862	0.54422	5.32	5.32	0.75377	7.890000	0.85834	6.026000	0.52860	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.535	0.67543	681	0.59854	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	47.43	33	chrX	136874454	.	T	A	47.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.306;DP=343;ExcessHet=0;FS=5.798;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.48;MQRankSum=-4.924;QD=1.9;ReadPosRankSum=-3.097;SOR=2.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:28,0:28:84:.:.:0,84,812:.	9	0	1	0
chrX	136875533	136875533	C	T	exonic	RBMX	.	nonsynonymous SNV	RBMX:NM_001164803:exon4:c.G269A:p.R90H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0276807064717	0.0017	0.0013245	0.0006	0.0037	0.0003	0	0	0.0003	0.0016	9.894e-05	0.000414	64	154602	rs146041009	0.0003	0.0003	0.0003	0.0003	0.0033	0.0002	0.0002	0.0027	0.0025	0.0033	0.0004	0.0027	0	0	0.0022	9.975e-05	0.0007	1.848e-05	0.0011	0.0011	0.0011	0.0010	0.0028	0.0010	0.0009	0.0023	0.0021	0.0028	0	0.0023	0.0030	0	0	0.0046	7.521e-05	0.0013	0	0.001	0.78490	D	0.102	0.38450	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.06	0.08634	T	-2.02	0.46503	N	0.153	0.15749	-0.7781	0.56409	T	0.006	0.02168	T	7	0.003775984	0.00070	T	0.027681	0.50460	D	0.135	0.36572	.	.	0.284112513307	0.28011	.	.	.	.	.	.	.	.	.	.	-0.273503	0.11369	T	-0.630644	0.10366	T	0.00834481131533364	0.00101	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	-2.444	0.05410	T	.	.	0.064	0.01762	B	.	.	0.365468	0.07381	4.003	0.9684539224068176	0.31320	0.39335	0.26190	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999594460471771	0.40745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	0.479	0.16007	-0.351000	0.07760	-0.241000	0.10591	-1.953000	0.00482	0.137000	0.23458	0.000000	0.08366	0.363000	0.25954	0.0763:0.3698:0.1895:0.3644	4.178	0.09821	681	0.59854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.005513	0.006803	0.011152	0.003953	0.000000	0.000000	0.000000	0.000000	0.05	712.43	38	chrX	136875533	.	C	T	712.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=335;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.783;SOR=0.627	GT:AD:DP:GQ:PL	0/0:27,0:27:72:0,72,1080	9	0	1	0
chrX	141002698	141002698	G	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.G5A:p.G2D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.174944969968	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489607447	3.644e-06	4.644e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.501e-05	8.693e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.867e-05	0	0	1.0	0.00964	T	0.83	0.03717	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.42	0.05507	T	3.49	0.00088	N	0.129	0.12341	-0.9803	0.34932	T	0.004	0.01365	T	7	0.101397336	0.18524	T	0.956671	0.99710	D	0.048	0.13305	0.368	0.37687	0.0762999501168	0.06990	0.0013652190435889872	0.00126	.	.	.	.	.	0.001901	0.01317	T	-0.516307	0.00462	T	-0.979416	0.00183	T	0.017921037392752	0.00518	T	0.210779	0.02549	T	0.29532337	0.52483	0.49253887	0.70646	0.29532337	0.52482	0.49253887	0.70647	-3.082	0.11090	T	.	.	0.065	0.01859	B	.	.	-0.813678	0.01081	0.048	0.10498859933170923	0.00134	0.00130	0.00805	N	AEFGI	.	.	.	.	.	.	.	.	.	1.57588558597822E-4	0.05650	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.839000	0.01779	-1.303000	0.05769	-1.688000	0.00776	0.423000	0.26353	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	667.43	108	chrX	141002698	.	G	A	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.946;DP=792;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.855;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1029:.	9	0	1	0
chrX	141002700	141002700	C	A	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.C7A:p.Q3K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.197173342896	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259136219	3.644e-06	4.462e-05	4.085e-06	2.752e-06	3.314e-05	8.5e-07	5.8e-07	.	.	0	2.841e-05	0	3.314e-05	0	0	1.188e-06	2.173e-05	0	3.502e-05	8.694e-05	5.138e-05	0	9.447e-05	1.118e-05	6.51e-06	2.503e-05	1.293e-05	9.447e-05	0	0	0	0	0	0	1.868e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	0.04	0.06488	N	0.108	0.09349	-0.9550	0.40096	T	0.005	0.01651	T	7	0.12508819	0.23766	T	0.952237	0.99675	D	0.045	0.12272	0.331	0.31681	0.165133752707	0.16062	0.002219422540313533	0.00205	.	.	.	.	.	0.002738	0.02136	T	-0.519706	0.00442	T	-0.984298	0.00171	T	0.0147115752779718	0.00306	T	0.207979	0.02486	T	0.37449184	0.58914	0.31594577	0.57578	0.37449184	0.58915	0.31594577	0.57577	-2.352	0.04847	T	.	.	0.080	0.07697	B	.	.	-0.828410	0.01052	0.045	0.23927780063318618	0.01034	0.00199	0.01145	N	AEFGI	.	.	.	.	.	.	.	.	.	3.31293657876148E-4	0.06583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.300000	0.01219	-9.105000	0.00867	-1.852000	0.00570	0.323000	0.25529	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	667.43	108	chrX	141002700	.	C	A	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.766;DP=788;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1029:.	9	0	1	0
chrX	141002746	141002754	CCAACGAGG	-	exonic	SPANXB1	.	nonframeshift deletion	SPANXB1:NM_032461:exon1:c.53_61del:p.E26_N28del	.	406	1110	6	0	0	6	0.00269542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259923760	0.0016	0.0037	0.0023	3.326e-05	0.0412	0.0015	0.0015	0.0392	0.0384	0.0003	0.0002	0.0006	0.0412	0.0004	0	0.0005	0.0023	0.0003	0.0024	0.0044	0.0035	5.547e-05	0.0518	0.0022	0.0021	0.0454	0.0430	0.0005	0.0044	0.0017	0.0011	0.0518	0.0002	0	0.0010	0.0051	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1261.39	108	chrX	141002745	.	TCCAACGAGG	T	1261.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.239;DP=870;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=-1.808;QD=7.13;ReadPosRankSum=-1.069;SOR=0.7	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1029	9	0	1	0
chrX	141002778	141002778	A	G	exonic	SPANXB1	.	nonsynonymous SNV	SPANXB1:NM_032461:exon1:c.A85G:p.K29E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.490410965177	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1413270893	3.015e-05	4.766e-05	2.356e-05	4.414e-05	0.0005	2.181e-05	1.867e-05	0.0003	0.0003	0	2.859e-05	5.27e-05	0	0	0.0005	2.472e-06	2.232e-05	0.0005	9.264e-06	3.623e-05	1.327e-05	0	3.205e-05	0	0	.	.	3.205e-05	0	0	0	0	0	0	0	0	0	0.255	0.16848	T	0.0	0.92824	D	0.046	0.21875	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	0.71	0.02130	N	0.156	0.16168	-0.9264	0.44659	T	0.009	0.03140	T	7	0.153458	0.28965	T	0.810796	0.98525	D	0.010	0.01040	0.376	0.38994	0.17258766438	0.16869	5.155462172028699E-4	0.00047	.	.	.	.	.	6.67E-4	0.00291	T	-0.479234	0.00747	T	-0.926163	0.00349	T	0.0435153923911886	0.04332	T	0.193081	0.02071	T	0.25475404	0.48506	0.36679494	0.62002	0.25475404	0.48506	0.36679494	0.62001	-0.492	0.00579	T	.	.	0.065	0.01986	B	.	.	0.714838	0.10837	7.517	0.50371471360100617	0.04372	0.01882	0.05788	N	AEFGI	.	.	.	.	.	.	.	.	.	4.65814759757675E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.12910	0.000000	0.13247	0.000000	0.17513	0.935000	0.32453	0.000000	0.08366	0.092000	0.17891	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	109.43	108	chrX	141002778	.	A	G	109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.393;DP=812;ExcessHet=0;FS=1.434;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.86;MQRankSum=0.526;QD=0.36;ReadPosRankSum=0.645;SOR=0.555	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,105,1029	9	0	1	0
chrX	141241591	141241591	C	T	exonic	SPANXC	.	nonsynonymous SNV	SPANXC:NM_022661:exon2:c.G220A:p.E74K	.	485	1035	2	0	0	2	0.000965251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0028	0.00370861	0.0012	0.0114	0.0004	0.0002	0.0002	0	0	0.0005	0.0006147	16	26028	rs144140529	0.0005	0.0010	0.0006	0.0001	0.0046	0.0004	0.0004	0.0040	0.0037	0.0038	0.0017	0.0004	0.0046	0	0	0.0002	0.0010	0.0004	0.0021	0.0034	0.0025	8.653e-05	0.0126	0.0018	0.0017	0.0081	0.0067	0.0045	0	0.0022	0.0013	0.0126	0	0	0.0002	0.0013	0.0009	0.079	0.33753	T	0.174	0.30045	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	2.87	0.10386	T	-2.96	0.61722	D	0.03	0.00717	-1.0044	0.28636	T	0.017	0.06998	T	7	0.0074335635	0.00169	T	.	.	.	0.054	0.15330	.	.	0.162503812791	0.15892	0.02255201064952654	0.02207	1.80444484246	0.91712	0.552129626274	0.46158	T	0.02339	0.17862	T	-0.803484	0.00007	T	-0.922079	0.00368	T	0.00340634439614215	0.00036	T	0.49935	0.15589	T	0.42769095	0.62601	0.55343646	0.74175	0.42769095	0.62601	0.55343646	0.74176	-2.947	0.09621	T	.	.	0.249	0.48417	B	.	.	1.629340	0.20803	14.92	0.85525766617131993	0.15947	0.00193	0.01117	N	AEFI	.	.	.	.	.	.	.	.	.	1.15699708666578E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.602000	0.05776	.	.	0.203000	0.17936	0.009000	0.18154	0.000000	0.08366	0.005000	0.06747	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000743	0.007246	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1309.43	33	chrX	141241591	.	C	T	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.654;DP=502;ExcessHet=0;FS=3.598;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=45.96;MQRankSum=3.61;QD=7.66;ReadPosRankSum=-3.467;SOR=0.897	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1433	9	0	1	0
chrX	141697582	141697582	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T177G:p.F59L	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	0.1278	0.1912	0.1492	0.0663	0.1286	0.1287	0.1	0.0933	0.122392	18922	154602	rs1059179	0.0003	0.0005	0.0003	0.0005	0.0069	0.0003	0.0003	0.0061	0.0058	0.0013	0.0003	0.0004	0.0069	0	0	4.767e-05	0.0007	0.0006	0.0007	0.0022	0.0010	3.12e-05	0.0058	0.0006	0.0005	0.0038	0.0032	0.0017	0	9.699e-05	0.0004	0.0058	0	0	5.726e-05	0	0.0008	0.099	0.30656	T	0.262	0.22895	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	.	.	.	3.37	0.05847	T	0.1	0.05810	N	0.032	0.00825	-0.9312	0.43963	T	0.011	0.04134	T	6	0.002481401	0.00037	T	.	.	.	0.007	0.00512	0.222	0.14518	.	.	0.002543207102614836	0.00236	6.5508806655E-4	0.00063	.	.	.	0.002088	0.01490	T	-0.864755	0.00002	T	-0.93746	0.00304	T	0.000143023294762927	0.00001	T	0.338066	0.07246	T	0.109959066	0.25994	0.18032092	0.40823	0.109959066	0.25994	0.18032092	0.40823	-2.404	0.05157	T	.	.	0.543	0.66497	A	.	.	0.058166	0.04700	1.338	0.76663715438598801	0.11559	0.00267	0.01455	N	AEI	.	.	.	.	.	.	.	.	.	1.17943017809801E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.488000	0.06578	.	.	-1.340000	0.01205	0.007000	0.17678	0.000000	0.08366	0.001000	0.02609	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.182722	0.163265	0.161710	0.147619	0.214286	0.258824	0.165919	0.184211	0.05	295.43	34	chrX	141697582	.	A	C	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.98;DP=502;ExcessHet=0;FS=37.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.72;MQRankSum=-6.472;QD=1.5;ReadPosRankSum=-1.594;SOR=4.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1212:.	9	0	1	0
chrX	141697584	141697584	A	C	exonic	SPANXD	.	nonsynonymous SNV	SPANXD:NM_032417:exon2:c.T175G:p.F59V	.	448	1073	0	1	0	2	0.000931099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	.	.	0.1280	0.1911	0.1489	0.0664	0.1287	0.1291	0.0998	0.0935	0.122508	18940	154602	rs1059178	0.0003	0.0005	0.0003	0.0004	0.0069	0.0003	0.0003	0.0062	0.0059	0.0012	0.0002	0.0004	0.0069	0	0	4.767e-05	0.0006	0.0006	0.0007	0.0022	0.0009	3.116e-05	0.0061	0.0005	0.0005	0.0041	0.0034	0.0015	0	9.673e-05	0.0004	0.0061	0	0	5.721e-05	0	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.46	0.05249	T	1.39	0.00846	N	0.04	0.01347	-0.9290	0.44284	T	0.007	0.02518	T	6	0.0030126572	0.00049	T	.	.	.	0.014	0.01968	.	.	.	.	0.0037548928829723997	0.00351	6.18377004847E-4	0.00059	.	.	.	0.001182	0.00684	T	-0.925117	0.00000	T	-1.01479	0.00113	T	0.000251681771553671	0.00002	T	0.279972	0.04873	T	0.06468569	0.13749	0.18236877	0.41160	0.06468569	0.13749	0.18236877	0.41159	-2.648	0.06877	T	.	.	0.049	0.00117	B	.	.	-0.299377	0.02620	0.328	0.12841224857465558	0.00235	0.00017	0.00201	N	AEFI	.	.	.	.	.	.	.	.	.	6.6803492725993E-5	0.04366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.105000	0.01427	.	.	-1.874000	0.00549	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	.	.	.	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.182582	0.156463	0.159851	0.147619	0.214286	0.258824	0.174888	0.184211	0.05	295.43	34	chrX	141697584	.	A	C	295.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.452;DP=504;ExcessHet=0;FS=37.606;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.53;MQRankSum=-6.472;QD=1.5;ReadPosRankSum=-1.864;SOR=4.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:34,0:34:99:.:.:0,99,1212:.	9	0	1	0
chrX	141905826	141905930	TGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.422_526del:p.V162_S196del	.	418	1079	25	0	0	25	0.0114521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0104	0.0044	0.0039	0.0188	0.0036	0.0047	0.0139	.	.	.	.	0.0006	0.0007	0.0009	2.752e-06	0.0014	0.0006	0.0006	0.0012	0.0011	0.0011	0.0009	0.0003	0.0007	0.0052	0.0010	0.0003	0.0008	0.0014	0.0013	0.0016	0.0018	8.611e-05	0.0022	0.0011	0.0011	0.0015	0.0013	0.0018	0	0.0006	0.0011	0.0003	0.0030	0.0047	0.0009	0.0032	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	513.39	35	chrX	141905825	.	TTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG	T	513.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=580;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.25;MQRankSum=-3.718;QD=3.17;ReadPosRankSum=-0.742;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:38,0:38:99:.:.:0,114,1167:.	9	0	1	0
chrX	141905856	141905856	C	0	exonic	MAGEC1	.	.	.	.	444	598	240	231	9	711	0.369863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	11535.3	35	chrX	141905856	.	C	*	11535.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.096;DP=741;ExcessHet=0;FS=0.656;InbreedingCoeff=0.798;MLEAC=1;MLEAF=0.05;MQ=59.77;MQRankSum=0;QD=20.67;ReadPosRankSum=0.179;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:68:99:.:.:2048,2048,2048:.	9	0	1	0
chrX	141905868	141905868	T	C	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.T464C:p.F155S	.	423	1074	10	6	9	31	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	.	0.0013245	0.0037	0.0006	0.0010	0	0	0.0040	0.0079	0.0105	0.0020116	311	154602	rs139443648	0.0024	0.0024	0.0023	0.0025	0.0142	0.0023	0.0023	0.0113	0.0102	0.0002	0.0021	0.0020	0	5.074e-05	0.0142	0.0023	0.0027	0.0065	0.0022	0.0022	0.0021	0.0022	0.0062	0.0019	0.0019	0.0046	0.0042	0.0003	0	0.0058	0.0023	0	0	0.0047	0.0027	0.0039	0.0062	0.329	0.13175	T	0.545	0.09588	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.07	0.03033	T	-0.66	0.19085	N	0.041	0.01421	-0.8946	0.48521	T	0.005	0.01761	T	8	0.006348878	0.00143	T	.	.	.	0.023	0.04649	.	.	0.0401082797425	0.02173	0.01917039542671657	0.01871	.	.	0.492900371552	0.37841	T	0.004114	0.03522	T	-0.81659	0.00006	T	-0.942583	0.00286	T	0.00239010341465473	0.00025	T	0.230377	0.03106	T	0.084212095	0.19481	0.12148678	0.29312	0.084212095	0.19480	0.12148678	0.29311	-6.287	0.48619	T	.	.	0.806	0.77589	P	.	.	0.291508	0.06680	3.180	0.28806100477940155	0.01497	0.00185	0.01079	N	AEFBCI	.	.	.	.	.	.	.	.	.	9.22317778584206E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.895000	0.04226	.	.	-3.646000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3347:0.0:0.6653	3.636	0.07689	987	0.02648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.009682	0.013793	0.005566	0.003953	0.000000	0.011765	0.008850	0.026316	0.2222	8657.98	35	chrX	141905868	.	T	C	8657.98	.	AC=4;AF=0.222;AN=18;DP=923;ExcessHet=0;FS=0;InbreedingCoeff=0.8566;MLEAC=4;MLEAF=0.222;MQ=59.94;QD=32.31;SOR=1.016	GT:AD:DP:GQ:PL	0/0:70,0:70:99:0,120,1800	7	2	0	1
chrX	141906161	141906161	-	CTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCC	exonic	MAGEC1	.	nonframeshift insertion	MAGEC1:NM_005462:exon4:c.757_758insCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCC:p.S266_S267insPLQIPVSPSSSSTLLSLFQSSPERTQSTFEGFAQS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.241e-05	5.362e-05	3.344e-05	9.938e-05	0.0016	3.529e-05	2.927e-05	0.0004	0.0002	0	0.0001	0	9.528e-05	0.0007	0.0016	1.242e-05	0	9.01e-05	0	5.469e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6909.94	334	chrX	141906161	.	T	TCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCC	6909.94	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-2.139;DP=1100;ExcessHet=0;FS=0.408;InbreedingCoeff=0.1111;MLEAC=2;MLEAF=0.5;MQ=57.69;MQRankSum=-5.826;QD=29.16;ReadPosRankSum=0.418;SOR=0.725	GT:AD:DP:GQ:PL	./.:35,0:35:0:0,0,0	1	0	1	8
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	28567.8	36	chrX	141906385	.	C	*	28567.8	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.664;DP=1477;ExcessHet=0;FS=0;InbreedingCoeff=0.9267;MLEAC=2;MLEAF=0.111;MQ=56.79;MQRankSum=2.21;QD=27.47;ReadPosRankSum=1.45;SOR=0.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:0,0:126:99:.:.:3658,3658,3658:.	8	1	0	1
chrX	151664231	151664248	CCCAATGGACCAGCAGGA	-	exonic	PASD1	.	nonframeshift deletion	PASD1:NM_173493:exon11:c.954_971del:p.M320_P325del	.	431	1075	14	2	0	18	0.00830258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.0018543	0.0034	0.0012	0.0027	0	0	0.0052	0.0032	0.0011	0.0004995	13	26028	rs759972296	0.0050	0.0050	0.0050	0.0049	0.0169	0.0049	0.0048	0.0137	0.0126	0.0008	0.0028	0.0010	0	0.0003	0.0169	0.0059	0.0043	0.0014	0.0033	0.0033	0.0034	0.0029	0.0056	0.0030	0.0029	0.0050	0.0048	0.0006	0	0.0023	0.0019	0	0.0002	0.0433	0.0056	0.0073	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2590.08	33	chrX	151664230	.	GCCCAATGGACCAGCAGGA	G	2590.08	.	AC=2;AF=0.1;AN=20;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=31.05;SOR=1.179	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,102,1078	9	1	0	0
chrX	151674158	151674158	C	T	exonic	PASD1	.	nonsynonymous SNV	PASD1:NM_173493:exon15:c.C2147T:p.T716I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0031	0.00264901	0.0042	0.0009	0.0171	0	0.0042	0.0035	0.0016	0.0013	0.0040232	622	154602	rs143262698	0.0048	0.0048	0.0049	0.0046	0.0161	0.0047	0.0046	0.0150	0.0145	0.0006	0.0161	0.0008	0	0.0028	0.0080	0.0050	0.0043	0.0017	0.0036	0.0036	0.0036	0.0035	0.0084	0.0033	0.0032	0.0070	0.0065	0.0011	0	0.0084	0.0004	0	0.0039	0.0046	0.0046	0.0026	0.0023	0.12	0.27904	T	0.239	0.24477	T	0.112	0.26290	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.29	0.35775	T	-1.85	0.43334	N	0.032	0.00825	-1.0396	0.17434	T	0.028	0.12190	T	9	0.0035764873	0.00065	T	.	.	.	0.024	0.04979	.	.	0.043077524339	0.03247	0.060607713547500275	0.06000	0.139529830647	0.15728	0.277859985828	0.07195	T	0.005014	0.04439	T	-0.848443	0.00003	T	-0.97788	0.00186	T	0.0231710599362346	0.01044	T	0.336666	0.07200	T	0.026629966	0.01745	0.05294489	0.08822	0.026629966	0.01745	0.05294489	0.08821	-3.413	0.15232	T	.	.	0.084	0.09530	B	.	.	-0.824512	0.01060	0.046	0.9847232234108565	0.41873	0.00482	0.02293	N	AEFBI	.	.	.	.	.	.	.	.	.	0.986050087452869	0.30996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.26	-6.52	0.01703	-1.979000	0.01583	-1.966000	0.04420	-1.819000	0.00603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2561:0.1488:0.116:0.4791	1.542	0.02404	821	0.40814	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.002070	0.000000	0.003717	0.003953	0.000000	0.000000	0.000000	0.000000	0.05	1004.43	69	chrX	151674158	.	C	T	1004.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.65;DP=362;ExcessHet=0;FS=2.2;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=-0.913;SOR=1.038	GT:AD:DP:GQ:PL	0/0:27,0:27:57:0,57,855	9	0	1	0
chrX	151739696	151739696	G	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon4:c.G338T:p.G113V	.	429	1069	18	6	0	30	0.0138376	.	.	.	743181	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	0.0466069080944	0.0054	0.00344371	0.0060	0.0011	0.0035	0	0.0009	0.0083	0.0064	0.0077	0.0059572	921	154602	rs144366408	0.0066	0.0066	0.0065	0.0068	0.0169	0.0065	0.0064	0.0138	0.0126	0.0008	0.0033	0.0158	3.311e-05	0.0019	0.0169	0.0070	0.0072	0.0076	0.0050	0.0050	0.0052	0.0046	0.0080	0.0047	0.0045	0.0073	0.0071	0.0010	0.0044	0.0026	0.0155	0	0.0008	0.0140	0.0080	0.0106	0.0042	0.414	0.10020	T	0.316	0.19362	T	0.013	0.16609	B	0.015	0.17295	B	0.021695	0.26783	N	0.401066	0.999997	0.58761	D	1.5	0.37844	L	-4.34	0.97267	D	-0.31	0.12099	N	0.125	0.11769	-0.1750	0.78305	T	0.659	0.88141	D	10	0.0054856837	0.00121	T	0.046607	0.62536	D	0.193	0.47281	.	.	0.839038645063	0.83750	0.56561791884801	0.56488	0.0802067649774	0.09027	0.346496105194	0.17404	T	0.101624	0.40855	T	-0.39713	0.02417	T	-0.33852	0.40512	T	0.0100142106092321	0.00134	T	0.692631	0.30204	T	0.06027341	0.12350	0.060847368	0.11654	0.06027341	0.12350	0.060847368	0.11653	-4.882	0.35532	T	.	.	0.076	0.05979	B	.	.	1.296129	0.16976	12.88	0.95539897949477193	0.27185	0.86342	0.45603	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.0675586635227689	0.15430	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.58	2.75	0.31439	0.245000	0.17917	2.952000	0.35717	-0.785000	0.03297	0.851000	0.30461	1.000000	0.68203	0.862000	0.40904	0.1718:0.1496:0.5206:0.1579	2.259	0.03814	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015225	0.000000	0.024119	0.007905	0.000000	0.023529	0.008850	0.015789	0.05	1381.43	95	chrX	151739696	.	G	T	1381.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.384;DP=416;ExcessHet=0;FS=5.137;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=0.374;SOR=0.356	GT:AD:DP:GQ:PL	0/0:39,0:39:99:0,99,1184	9	0	1	0
chrX	151743683	151743683	C	T	exonic	CNGA2	.	nonsynonymous SNV	CNGA2:NM_005140:exon7:c.C1180T:p.H394Y	.	.	.	.	.	.	.	.	.	.	.	3429539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.667	0.187654065958	0.0002	.	0.0002	0	0	0	0	0.0004	0	0.0002	0.0001811	28	154602	rs200521778	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0	5.681e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	6.27e-05	6.092e-05	5.14e-05	8.868e-05	0.0004	2.901e-05	2.071e-05	4.841e-05	3.351e-05	0	0	0	0	0	0	0	0.0001	0	0.0004	0.004	0.65419	D	0.004	0.74150	D	0.997	0.70673	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	0.996441	0.43208	D	1.445	0.36358	L	-4.07	0.96562	D	-2.45	0.53577	N	0.235	0.26475	1.041	0.97925	D	0.913	0.97130	D	10	0.48001093	0.60374	T	0.187654	0.85952	D	0.667	0.87625	.	.	0.799962852074	0.79809	0.8676456651138357	0.86729	0.426352930789	0.43014	0.836189746857	0.87513	D	0.438415	0.78408	T	0.0796878	0.62005	D	0.208754	0.83599	D	0.144749343395233	0.16678	T	0.960254	0.85028	D	0.6571252	0.75745	0.63970804	0.78954	0.6571252	0.75746	0.63970804	0.78955	-8.458	0.64151	D	.	.	0.184	0.39832	B	.	.	4.346217	0.66720	25.0	0.99696143090792833	0.80316	0.96157	0.67794	D	AEFBI	.	.	.	.	.	.	.	.	.	0.995152058102218	0.33979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.96	4.96	0.65153	7.568000	0.81546	7.725000	0.67498	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	14.865	0.70043	758	0.50837	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2369.43	33	chrX	151743683	.	C	T	2369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.147;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=1.08;SOR=0.667	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1167	9	0	1	0
chrX	151923710	151923710	G	A	exonic	MAGEA4	.	nonsynonymous SNV	MAGEA4:NM_001011548:exon3:c.G46A:p.V16I,MAGEA4:NM_001011549:exon3:c.G46A:p.V16I,MAGEA4:NM_001011550:exon3:c.G46A:p.V16I,MAGEA4:NM_002362:exon3:c.G46A:p.V16I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0014020762755	0.0014	0.0015894	0.0004	0.0044	0	0	0	0	0	0.0002	0.000401	62	154602	rs142773415	0.0002	0.0002	0.0002	0.0001	0.0059	0.0002	0.0002	0.0052	0.0049	0.0059	0.0001	0	0	0	0.0005	1.9e-05	0.0003	9.236e-05	0.0013	0.0014	0.0013	0.0015	0.0047	0.0012	0.0011	0.0041	0.0039	0.0047	0	9.409e-05	0	0	0	0	1.882e-05	0.0013	0.0004	0.019	0.50132	D	0.115	0.39799	T	0.31	0.32798	B	0.035	0.22741	B	0.000108	0.00454	N	5.141020	1	0.08975	N	-0.345	0.03330	N	3.68	0.04151	T	0.53	0.03243	N	0.024	0.00445	-0.9839	0.34093	T	0.007	0.02598	T	10	0.004689902	0.00099	T	0.001402	0.02062	T	0.032	0.07718	.	.	0.043077524339	0.03247	0.040876506513299944	0.04032	0.0039295795262	0.00340	0.229633182287	0.01941	T	0.001018	0.02288	T	-0.818099	0.00005	T	-0.946965	0.00272	T	0.0130391264606733	0.00227	T	0.492651	0.15191	T	0.042650685	0.06507	0.05261352	0.08704	0.042650685	0.06506	0.05261352	0.08703	-4.843	0.35088	T	.	.	0.080	0.07889	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	-1.854720	0.00140	0.002	0.68819901232604863	0.08777	0.01265	0.04434	N	AEFCI	.	.	.	.	.	.	.	.	.	0.034652362980842	0.14164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.4	-3.6	0.04277	-4.156000	0.00322	-20.000000	0.00162	-3.737000	0.00063	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4147:0.323:0.2623	4.904	0.13144	728	0.54609	Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal;Melanoma associated antigen, N-terminal|Melanoma associated antigen, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1845.43	117	chrX	151923710	.	G	A	1845.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.27;DP=637;ExcessHet=0;FS=0.696;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.77;ReadPosRankSum=-0.202;SOR=0.571	GT:AD:DP:GQ:PL	0/0:45,0:45:99:0,114,1710	9	0	1	0
chrX	152736690	152736690	A	G	exonic	MAGEA12	.	nonsynonymous SNV	MAGEA12:NM_005367:exon2:c.A529G:p.I177V,MAGEA12:NM_001166386:exon3:c.A529G:p.I177V,MAGEA12:NM_001166387:exon3:c.A529G:p.I177V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00140421189835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2	0.07236	T	0.49	0.02993	N	0.138	0.13626	.	.	.	.	.	.	.	0.034472078	0.01657	T	.	.	.	.	.	.	.	.	.	0.8282672130425578	0.82784	.	.	.	.	.	0.004214	0.03621	T	.	.	.	.	.	.	.	.	.	0.0451455	0.00319	T	.	.	.	.	.	.	.	.	-1.588	0.01954	T	.	.	0.096	0.16451	B	.;.;.	.;.;.	-1.008770	0.00759	0.024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.014000	0.29553	.	.	0.291000	0.18778	0.118000	0.23139	0.000000	0.08366	0.022000	0.11911	.	.	.	663	0.61610	MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	5377.12	34	chrX	152736690	.	A	G	5377.12	.	AC=2;AF=0.1;AN=20;DP=497;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.54;SOR=0.715	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1394	9	1	0	0
chrX	152759467	152759467	C	T	exonic	CSAG3	.	nonsynonymous SNV	CSAG3:NM_001129826:exon1:c.C97T:p.R33C,CSAG3:NM_001129828:exon1:c.C97T:p.R33C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348141659	6.124e-05	6.847e-05	8.669e-05	5.975e-06	0.0002	4.923e-05	4.485e-05	0.0001	7.707e-05	7.703e-05	5.771e-05	0	0.0002	0	0	6.412e-05	2.242e-05	1.878e-05	6.421e-05	0.0001	6.459e-05	6.329e-05	0.0001	2.964e-05	2.111e-05	3.784e-05	2.452e-05	3.257e-05	0	0.0001	0	0	0	0	9.687e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078345686	0.12474	T	.	.	.	.	.	.	.	.	.	0.001029494994407996	0.00094	.	.	0.466442525387	0.34193	T	.	.	.	.	.	.	.	.	.	.	.	.	0.464354	0.13557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32275	B	.;.	.;.	-0.624189	0.01506	0.095	0.12380550230466277	0.00213	0.00038	0.00324	N	AEFI	.	.	.	.	.	.	.	.	.	3.28319088965819E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0445101	0.03527	0.109	-0.218	0.12495	-3.961000	0.00366	.	.	-5.466000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	728	0.54609	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1435.43	39	chrX	152759467	.	C	T	1435.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.413;DP=472;ExcessHet=0;FS=5.211;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.61;MQRankSum=-1.865;QD=9.2;ReadPosRankSum=-0.962;SOR=1.148	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1485	9	0	1	0
chrX	153318951	153318951	G	A	exonic	PNMA6F	.	nonsynonymous SNV	PNMA6F:NM_001354980:exon2:c.C1724T:p.P575L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00238411	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs367643840	0.0002	0.0002	0.0001	0.0002	0.0089	0.0001	0.0001	0.0060	0.0050	0	0	0	0	0	0	5.074e-05	0.0002	0.0089	0.0003	0.0003	0.0002	0.0004	0.0099	0.0002	0.0002	0.0070	0.0061	3.182e-05	0	0	0	0	0.0002	0	3.748e-05	0	0.0099	.	.	.	0.158	0.31629	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.20262	.	.	.	.	.	.	.	0.006699115	0.00152	T	.	.	.	.	.	.	.	.	.	0.06829098680561384	0.06767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456254	0.13085	T	0.040178064	0.05686	0.0960383	0.22802	0.040178064	0.05686	0.0960383	0.22802	-4.491	0.30770	T	.	.	0.076	0.05756	B	.	.	0.456208	0.08259	5.004	0.43446540396354594	0.03271	0.01953	0.05932	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.0896961982384377	0.16091	.	.	.	.	.	.	.	.	.	.	.	.	0.0469443	0.06290	2.59	0.689	0.17197	0.185000	0.16767	.	.	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.182:0.0:0.527:0.291	2.467	0.04277	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	974.43	67	chrX	153318951	.	G	A	974.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.256;DP=325;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.54;ReadPosRankSum=-0.928;SOR=0.67	GT:AD:DP:GQ:PL	0/0:14,0:14:39:0,39,585	9	0	1	0
chrX	153320143	153320160	CTCCTGCCTCACCTGCTG	-	exonic	PNMA6F	.	nonframeshift deletion	PNMA6F:NM_001354980:exon2:c.515_532del:p.A172_G177del	.	925	591	4	2	0	8	0.00672269	.	.	.	2824248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0013	0.0014	0.0017	0.0074	0.0013	0.0013	0.0037	0.0031	0.0009	0.0004	0.0008	0.0011	0.0006	0.0074	0.0015	0.0018	0.0044	0.0014	0.0018	0.0017	0.0007	0.0080	0.0012	0.0012	0.0053	0.0044	0.0011	0	0.0012	0.0008	0.0003	0.0002	0.0047	0.0016	0.0013	0.0080	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	974.39	80	chrX	153320142	.	CCTCCTGCCTCACCTGCTG	C	974.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.874;DP=468;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-2.19;QD=12.18;ReadPosRankSum=-0.519;SOR=0.643	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1080	9	0	1	0
chrX	153398312	153398329	CTCCTGCCTCACCTGCTG	-	exonic	PNMA6E	.	nonframeshift deletion	PNMA6E:NM_001367770:exon2:c.521_538del:p.A174_G179del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402068443	0.0002	0.0001	0.0002	0.0002	0.0032	0.0001	0.0001	0.0011	0.0007	0.0001	0	0.0001	0	0	0.0032	0.0002	0.0002	9.1e-05	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0001	0.0002	0.0002	3.849e-05	0	0.0001	0	0	0	0	0.0004	0.0008	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1191.08	65	chrX	153398311	.	CCTCCTGCCTCACCTGCTG	C	1191.08	.	AC=2;AF=0.1;AN=20;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=59.27;QD=34.7;SOR=0.997	GT:AD:DP:GQ:PL	0/0:26,0:26:75:0,75,1125	9	1	0	0
chrX	153398330	153398347	CTCCTGCCTCACCTACAC	-	exonic	PNMA6E	.	nonframeshift deletion	PNMA6E:NM_001367770:exon2:c.503_520del:p.G168_G173del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0019	0.0016	1.045e-05	0.0049	0.0010	0.0010	0.0038	0.0035	0.0002	0.0049	0.0012	0	0.0005	0.0016	0.0009	0.0010	0.0024	0.0010	0.0016	0.0014	0	0.0026	0.0009	0.0008	0.0017	0.0015	0.0002	0	0.0026	0.0012	0	0.0007	0	0.0013	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	343.7	40	chrX	153398329	.	GCTCCTGCCTCACCTACAC	G	343.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.36;DP=339;ExcessHet=0;FS=6.819;InbreedingCoeff=0.6078;MLEAC=1;MLEAF=0.05;MQ=59.56;MQRankSum=-2.069;QD=5.21;ReadPosRankSum=2.72;SOR=0.24	GT:AD:DP:GQ:PL	0/0:31,0:31:44:0,44,876	9	0	1	0
chrX	153398329	153398347	GCTCCTGCCTCACCTACAC	0	exonic	PNMA6E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	343.7	40	chrX	153398329	.	GCTCCTGCCTCACCTACAC	*	343.7	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.36;DP=339;ExcessHet=0;FS=6.819;InbreedingCoeff=0.6078;MLEAC=2;MLEAF=0.1;MQ=59.56;MQRankSum=-2.069;QD=5.21;ReadPosRankSum=2.72;SOR=0.24	GT:AD:DP:GQ:PL	0/0:31,0:31:44:0,44,876	9	1	0	0
chrX	153445355	153445355	C	T	exonic	TREX2	.	nonsynonymous SNV	TREX2:NM_080701:exon2:c.G76A:p.E26K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0112890624705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.02489	T	1.0	0.01155	T	0.985	0.61118	D	0.475	0.46927	P	0.036979	0.24457	U	0.268985	1	0.08975	N	0.17	0.09006	N	0.96	0.42888	T	0.65	0.02332	N	0.275	0.31478	-1.0214	0.23259	T	0.051	0.21728	T	10	0.06624699	0.09056	T	0.011289	0.28764	T	0.101	0.28911	0.585	0.71245	0.0551355673512	0.04727	0.4331797872171364	0.43234	0.0642824886983	0.07162	0.510533928871	0.40298	T	0.058354	0.30818	T	-0.360928	0.04077	T	-0.756224	0.03249	T	0.248056441545486	0.22786	T	0.762924	0.38892	T	0.17246482	0.37939	0.10459686	0.25124	0.17246482	0.37938	0.10459686	0.25123	.	.	.	.	.	0.190	0.47859	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.882999	0.12561	9.091	0.958450697743082	0.27976	0.08259	0.14211	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.71165621105691	0.22827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.04	3.13	0.35090	-0.023000	0.12403	.	.	0.596000	0.33519	0.000000	0.06391	0.992000	0.31684	0.026000	0.12556	0.0:0.6079:0.1837:0.2084	4.365	0.10653	209	0.91859	.;.;Exonuclease, RNase T/DNA polymerase III;.;.;Exonuclease, RNase T/DNA polymerase III;Exonuclease, RNase T/DNA polymerase III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1433.43	39	chrX	153445355	.	C	T	1433.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.2;DP=453;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.502;SOR=0.777	GT:AD:DP:GQ:PL	0/0:35,0:35:99:0,99,1120	9	0	1	0
chrX	153454430	153454430	T	G	exonic	HAUS7	.	nonsynonymous SNV	HAUS7:NM_001385482:exon9:c.A1009C:p.I337L,HAUS7:NM_017518:exon9:c.A1039C:p.I347L,HAUS7:NM_001385481:exon10:c.A1186C:p.I396L,HAUS7:NM_001385483:exon11:c.A1186C:p.I396L	.	440	1081	1	0	0	1	0.000462321	.	.	.	3440098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00377253459785	.	0.000529801	0.0003	0	0	0	0	2.208e-05	0	0.0028	0.000304	47	154602	rs782355109	0.0002	0.0002	0.0001	0.0003	0.0031	0.0001	0.0001	0.0027	0.0026	0	0	0	0	0	0	6.003e-06	0.0002	0.0031	2.798e-05	3.525e-05	1.297e-05	6.638e-05	0.0012	7.43e-06	4.06e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.488	0.11621	T	0.001	0.07471	B	0.001	0.04355	B	0.250626	0.03644	N	1.512690	1	0.08975	N	1.555	0.39373	L	.	.	.	.	.	.	0.064	0.03613	-0.9985	0.30339	T	0.047	0.20077	T	10	0.0067394674	0.00153	T	0.003773	0.08775	T	0.011	0.01250	0.235	0.16457	0.54574068947	0.54228	0.09474064088135943	0.09406	0.18377037293	0.20665	0.352742552757	0.18325	T	0.033454	0.22918	T	-0.618581	0.00112	T	-0.666873	0.07810	T	0.0156692515515907	0.00361	T	0.486851	0.14885	T	0.07363954	0.16471	0.059761744	0.11269	0.07363954	0.16470	0.059761744	0.11269	-1.954	0.03012	T	.	.	0.098	0.16231	B	.	.	-0.137169	0.03426	0.625	0.89521708936478395	0.18868	0.01652	0.05304	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999840260000731	0.43971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	-2.69	0.05668	-0.410000	0.07214	.	.	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.233000	0.22815	0.0:0.2026:0.4905:0.3069	5.391	0.15546	203	0.92088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1138.12	38	chrX	153454430	.	T	G	1138.12	.	AC=2;AF=0.1;AN=20;DP=367;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=27.1;SOR=1.127	GT:AD:DP:GQ:PL	0/0:38,0:38:99:0,102,1016	9	1	0	0
chrX	153771591	153771591	G	A	exonic	PLXNB3	.	nonsynonymous SNV	PLXNB3:NM_005393:exon14:c.G2453A:p.R818H,PLXNB3:NM_001163257:exon15:c.G2522A:p.R841H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0458884280316	.	.	1.329e-05	0	0	0	0	2.395e-05	0	0	1.94e-05	3	154602	rs781971591	3.658e-06	4.553e-06	4.093e-06	2.775e-06	4.758e-06	8.6e-07	5.8e-07	1.11e-06	7.5e-07	0	0	0	0	0	0	4.758e-06	0	0	1.766e-05	1.739e-05	1.284e-05	2.825e-05	9.252e-05	2.93e-06	1.1e-06	.	.	0	0	9.252e-05	0	0	0	0	1.875e-05	0	0	0.006	0.61437	D	0.022	0.58613	D	0.943	0.53072	P	0.512	0.47969	P	0.001207	0.39820	N	0.206585	1	0.81001	D	2.08	0.57402	M	5.2	0.01185	T	-1.08	0.28084	N	0.277	0.31365	-0.7665	0.57049	T	0.264	0.63566	T	10	0.1541211	0.29078	T	0.045888	0.62195	D	0.087	0.25287	0.48	0.55983	0.144782658237	0.14088	0.4517087416295866	0.45088	.	.	0.596589684486	0.52423	T	0.02539	0.18993	T	-0.262834	0.12572	T	-0.61532	0.11556	T	0.569686831463863	0.35223	D	0.830517	0.49623	T	0.117462814	0.27690	0.09479928	0.22456	0.117462814	0.27690	0.09479928	0.22455	-6.463	0.51901	T	.	.	0.089	0.13876	B	.;.	.;.	3.480665	0.48608	22.6	0.99944423116592718	0.99868	0.34317	0.25039	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.989331732556295	0.31792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	3.17	0.35510	0.796000	0.26646	.	.	0.672000	0.70159	0.006000	0.17386	1.000000	0.68203	0.810000	0.38174	0.105:0.0:0.573:0.322	5.160	0.14386	55	0.97548	.;PSI domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1884.12	45	chrX	153771591	.	G	A	1884.12	.	AC=2;AF=0.1;AN=20;DP=414;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;QD=29.44;SOR=1.402	GT:AD:DP:GQ:PL	0/0:33,0:33:99:0,99,1165	9	1	0	0
chrX	154362534	154362534	G	A	exonic	FLNA	.	nonsynonymous SNV	FLNA:NM_001110556:exon17:c.C2449T:p.P817S,FLNA:NM_001456:exon17:c.C2449T:p.P817S	Cardiac valvular dysplasia, X-linked, X-linked recessive;Congenital short bowel syndrome, X-linked recessive;FG syndrome 2;Frontometaphyseal dysplasia 1, X-linked recessive;Heterotopia, periventricular, X-linked dominant;Intestinal pseudoobstruction, neuronal, X-linked recessive;Melnick-Needles syndrome, X-linked dominant;Otopalatodigital syndrome, type I, X-linked dominant;Otopalatodigital syndrome, type II, X-linked dominant;Terminal osseous dysplasia	1	1519	2	0	0	2	0.000657895	.	.	.	191890	not_specified|Heterotopia,_periventricular,_X-linked_dominant|Oto-palato-digital_syndrome,_type_II|Melnick-Needles_syndrome|Frontometaphyseal_dysplasia|Connective_tissue_disorder|Disorder_of_sexual_differentiation|FLNA-related_disorder|not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MedGen:CN169374|MONDO:MONDO:0010233,MedGen:C1848213,OMIM:300049,Orphanet:2149,Orphanet:82004|MONDO:MONDO:0010571,MedGen:C1844696,OMIM:304120,Orphanet:669,Orphanet:90652|MONDO:MONDO:0010650,MedGen:C0025237,OMIM:309350,Orphanet:2484|MONDO:MONDO:0015942,MedGen:C0265293,OMIM:PS305620,Orphanet:1826|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0002145,MedGen:C2930619,Orphanet:90771|.|MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.320	0.170743209791	0.0002	.	0.0005	0	0.0001	0	0.0002	0.0008	0	0.0007	0.0005045	78	154602	rs200053635	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0004	0.0007	0.0006	3.788e-05	2.84e-05	0.0002	0	0.0001	0.0010	0.0005	0.0004	0.0009	0.0003	0.0003	0.0003	0.0003	0.0018	0.0002	0.0002	0.0007	0.0005	0	0	9.326e-05	0	0	0	0	0.0005	0	0.0018	0.009	0.57480	D	0.024	0.56640	D	0.996	0.68779	D	0.983	0.75793	D	0.000023	0.55875	N	0.069507	0.999266	0.46490	D	2.42	0.70002	M	-0.56	0.71187	T	-4.3	0.76496	D	0.109	0.39760	-0.0163	0.81916	T	0.519	0.82028	D	10	0.0738256	0.11204	T	0.170743	0.84821	D	0.320	0.64215	.	.	0.862928642666	0.86159	0.5124451592651809	0.51166	0.679247475551	0.59926	0.561857461929	0.47530	T	0.777463	0.94095	D	-0.356586	0.04327	T	-0.370492	0.36831	T	0.0884660829645406	0.11033	T	0.957004	0.83719	D	0.2130943	0.43679	0.33343104	0.59180	0.2130943	0.43679	0.33343104	0.59179	-9.267	0.69400	D	0.27806414843201943	0.37291	0.172	0.43186	B	.;.;.;.;.	.;.;.;.;.	3.274559	0.44839	22.0	0.99204873185051512	0.55412	0.71265	0.34939	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999999952404109	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.13	4.26	0.49832	3.460000	0.52793	10.019000	0.83127	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.177000	0.21203	0.0783:0.1303:0.6544:0.137	6.054	0.19026	84	0.96491	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.003953	0.000000	0.000000	0.000000	0.000000	0.05	1829.43	40	chrX	154362534	.	G	A	1829.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.105;DP=512;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.221;SOR=0.516	GT:AD:DP:GQ:PL	0/0:36,0:36:99:0,99,1030	9	0	1	0
chrX	154532990	154532990	C	T	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon9:c.G1093A:p.A365T,G6PD:NM_001042351:exon9:c.G1003A:p.A335T,G6PD:NM_001360016:exon9:c.G1003A:p.A335T	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	0	1498	15	9	0	33	0.0108947	.	.	YES	25402	Inborn_genetic_diseases|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CHATHAM|G6PD-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.609	0.640463473904	9.5e-05	.	0.0002	0	0.0001	0.0002	0	0.0001	0.0016	0.0007	0.0001811	28	154602	rs5030869	0.0001	0.0001	9.529e-05	0.0002	0.0022	0.0001	0.0001	0.0014	0.0013	0	0	0	0	0	0.0022	3.563e-05	0.0004	0.0017	7.98e-05	7.825e-05	7.708e-05	8.587e-05	0.0018	4.146e-05	3.011e-05	0.0007	0.0005	0	0	0	0	0	0	0	7.524e-05	0	0.0018	0.003	0.68238	D	0.009	0.70582	D	0.961	0.55431	D	0.632	0.51815	P	0.000000	0.84330	D	0.000000	0.999204	0.46326	D	1.83	0.48079	L	-4.86	0.98263	D	-0.84	0.22944	N	0.512	0.54322	1.016	0.97462	D	0.924	0.97493	D	10	0.2626309	0.43733	T	0.640463	0.96934	D	0.609	0.84666	.	.	0.992300379967	0.99221	0.8653505156550084	0.86500	1.81731878846	0.91879	0.608502745628	0.54105	T	0.753592	0.93267	D	0.170001	0.71124	D	0.430885	0.93071	D	0.076977080891245	0.09596	T	0.884712	0.60854	D	0.8069284	0.84352	0.7171555	0.83304	0.8257544	0.85611	0.75738084	0.85663	-7.3	0.56622	T	0.3153788254411631	0.41341	0.298	0.63352	B	.;.;.;.;.	.;.;.;.;.	2.540493	0.32863	19.17	0.99848937268831928	0.92838	0.45951	0.27652	N	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999456961947	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.77	5.77	0.91077	0.969000	0.28967	3.211000	0.36801	0.581000	0.30040	0.460000	0.26644	0.997000	0.33255	0.179000	0.21265	0.0:0.83:0.17:0.0	11.968	0.52337	80	0.96670	Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;Glucose-6-phosphate dehydrogenase, C-terminal;.;Glucose-6-phosphate dehydrogenase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002069	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.005263	0.1	4019.12	37	chrX	154532990	.	C	T	4019.12	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.94;DP=489;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.99;ReadPosRankSum=-1.073;SOR=0.365	GT:AD:DP:GQ:PL	0/0:34,0:34:99:0,99,1046	9	1	0	0
chrX	154928650	154928650	T	G	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.A5140C:p.T1714P	Hemophilia A, X-linked recessive	4	1516	2	0	0	2	0.000659196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.638951313294	.	.	4.66e-05	0	0	0	0	8.492e-05	0	0	.	.	.	rs782088688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.033	0.53072	D	0.42	0.35330	B	0.309	0.41361	B	0.022606	0.26600	N	0.438807	1	0.08975	N	2.595	0.75868	M	-5.29	0.98959	D	-2.65	0.56787	D	0.402	0.44283	0.820	0.94651	D	0.927	0.97591	D	10	0.53945625	0.63636	D	0.638951	0.96918	D	0.461	0.75822	0.502	0.59460	0.854897914107	0.85350	0.8754036737759816	0.87507	0.0648840509856	0.07242	0.45993065834	0.33301	T	0.803789	0.95025	D	0.0617012	0.59827	T	-0.149147	0.59319	T	0.593873679637909	0.36159	D	0.614838	0.23473	T	0.62355924	0.73954	0.50074077	0.71137	0.62355924	0.73955	0.50074077	0.71137	-9.226	0.69140	D	0.4567278971524397	0.53960	0.167	0.36830	B	.	.	3.616941	0.51161	23.1	0.98910297975181272	0.48363	0.39238	0.26168	N	AEFBI	.	.	.	.	.	.	.	.	.	8.9553578480018E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	2.51	0.29435	1.302000	0.33063	4.993000	0.46541	-0.194000	0.09177	0.888000	0.31154	1.000000	0.68203	0.991000	0.66497	0.0:0.1066:0.1956:0.6978	4.474	0.11145	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	151.05	33	chrX	154928650	.	T	G	151.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.479;DP=470;ExcessHet=0;FS=76.863;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=59.85;MQRankSum=-1.937;QD=1.56;ReadPosRankSum=0.734;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0/0:35,0:35:99:.:.:0,105,1148:.	8	0	1	1
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000688	0.000000	0.000000	0.000000	0.071429	0.000000	0.000000	0.000000	0.1667	123.91	33	chrX	154928659	.	G	T	123.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.172;DP=961;ExcessHet=0;FS=73.374;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.333;MQ=59.86;MQRankSum=-2.121;QD=1.23;ReadPosRankSum=2.33;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	./.:60,0:60:0:.:.:0,0,753:.	2	0	1	7
chrY	9467257	9467257	G	A	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.G257A:p.R86Q,TSPY1:NM_003308:exon1:c.G257A:p.R86Q	.	1147	333	32	10	0	52	0.0724234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	.	0.1667	.	.	0	.	.	.	0.2	3.84e-05	1	26028	rs777840135	0.0001	0.0005	.	0.0001	0.0011	9.158e-05	8.115e-05	0.0007	0.0006	0	0	0	0	0.0001	0	6.671e-05	8.002e-05	0.0011	3.003e-05	0.0002	.	3.003e-05	0.0007	0	0	.	.	0	0	0	0	0.0007	0	0	0	0	0	0.413	0.10052	T	0.586	0.15059	T	0.942	0.58077	P	0.102	0.43842	B	.	.	.	.	.	.	.	1.24	0.30952	L	1.55	0.29866	T	0.29	0.04161	N	0.051	0.04790	-1.0424	0.16592	T	0.020	0.08500	T	5	0.0024063885	0.00036	T	.	.	.	0.052	0.14661	.	.	0.15556083564	0.15200	0.056038622022919246	0.05544	.	.	.	.	.	0.009498	0.08644	T	-0.450626	0.01120	T	-0.885069	0.00613	T	0.039082858610258	0.03525	T	0.458954	0.13262	T	0.09309585	0.21857	0.15247531	0.35872	0.09309585	0.21857	0.15247531	0.35871	-3.152	0.11903	T	.	.	0.072	0.09578	B	.;.	.;.	0.182618	0.05701	2.146	0.81828080224814892	0.13880	0.00167	0.00991	N	AEF	.	.	.	.	.	.	.	.	.	1.11426519872457E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.090000	0.11129	.	.	0.221000	0.18078	0.946000	0.32893	0.000000	0.08366	0.005000	0.06747	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	179.62	.	chrY	9467257	.	G	A	179.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.98;DP=81;ExcessHet=0.3476;FS=3.14;MLEAC=3;MLEAF=0.214;MQ=35.37;MQRankSum=-0.493;QD=10.57;ReadPosRankSum=0.366;SOR=2.093	GT:AD:DP:GQ:PL	0/0:8,0:8:24:0,24,239	5	0	2	3